TITINdb

Map SAVs to Structure

Position	Domain position	SAV	Structural Position	RS	Q(SASA)	Disease	Source	MAF
31709	2	P/H	2	rs869320739	0.1185	HMERF	Literature	None
31709	2	P/R	2	rs869320739	0.1185	HMERF	Literature	None
31710	3	G/S	3	rs770979567	0.2148	None	gnomAD-2.1.1	4.15E-06
31710	3	G/S	3	rs770979567	0.2148	None	gnomAD-3.1.2	6.57E-06
31710	3	G/S	3	rs770979567	0.2148	None	gnomAD-4.0.0	3.11743E-06
31711	4	P/L	4	None	0.3963	None	gnomAD-4.0.0	6.88534E-07
31712	5	C/R	5	rs869320740	0.1439	None	gnomAD-2.1.1	4.11E-06
31712	5	C/R	5	rs869320740	0.1439	MFM HMERF	Literature	None
31712	5	C/R	5	rs869320740	0.1439	None	gnomAD-4.0.0	3.43489E-06
31712	5	C/W	5	None	0.1439	HMERF	Literature	None
31712	5	C/Y	5	None	0.1439	MFM HMERF	Literature	None
31716	9	T/N	11	rs879097606	0.3938	None	gnomAD-4.0.0	1.59902E-06
31716	9	T/S	11	None	0.3938	None	gnomAD-4.0.0	1.59929E-06
31717	10	V/I	12	rs150930737	0.2804	None	gnomAD-2.1.1	6.85E-05
31717	10	V/I	12	rs150930737	0.2804	None	gnomAD-3.1.2	3.94E-05
31717	10	V/I	12	rs150930737	0.2804	None	1000 genomes	1.99681E-04
31717	10	V/I	12	rs150930737	0.2804	None	gnomAD-4.0.0	3.53841E-05
31718	11	S/I	13	rs758006837	0.3403	None	gnomAD-2.1.1	2.88E-05
31718	11	S/I	13	rs758006837	0.3403	None	gnomAD-3.1.2	3.29E-05
31718	11	S/I	13	rs758006837	0.3403	None	gnomAD-4.0.0	8.74991E-05
31718	11	S/N	13	None	0.3403	None	gnomAD-4.0.0	6.85286E-07
31718	11	S/R	13	rs781462223	0.3403	None	gnomAD-2.1.1	5.27E-05
31718	11	S/R	13	rs781462223	0.3403	None	gnomAD-4.0.0	6.85142E-07
31719	12	R/K	14	None	0.7418	None	gnomAD-4.0.0	1.5955E-06
31720	13	V/A	15	None	0.2666	None	gnomAD-4.0.0	1.59454E-06
31720	13	V/E	15	rs1696965426	0.2666	None	gnomAD-3.1.2	6.57E-06
31720	13	V/E	15	rs1696965426	0.2666	None	gnomAD-4.0.0	6.57428E-06
31720	13	V/I	15	rs1575443877	0.2666	None	gnomAD-4.0.0	1.59457E-06
31721	14	T/I	16	None	0.2397	None	gnomAD-4.0.0	6.84617E-07
31723	16	E/K	18	rs1225039103	0.5229	None	gnomAD-2.1.1	4.04E-06
31723	16	E/K	18	rs1225039103	0.5229	None	gnomAD-4.0.0	1.59239E-06
31724	17	K/Q	19	rs1322640877	0.5408	None	gnomAD-2.1.1	4.03E-06
31724	17	K/Q	19	rs1322640877	0.5408	None	gnomAD-4.0.0	1.59222E-06
31725	18	C/G	20	None	0.0954	None	gnomAD-4.0.0	6.84342E-07
31725	18	C/R	20	rs1295856798	0.0954	None	gnomAD-3.1.2	6.57E-06
31725	18	C/R	20	rs1295856798	0.0954	None	gnomAD-4.0.0	1.85936E-06
31726	19	T/A	21	rs761422470	0.2169	None	gnomAD-2.1.1	4.03E-06
31726	19	T/A	21	rs761422470	0.2169	None	gnomAD-4.0.0	2.73723E-06
31726	19	T/S	21	None	0.2169	None	gnomAD-4.0.0	1.36861E-06
31727	20	L/S	22	None	0.1099	None	gnomAD-4.0.0	2.40064E-06
31728	21	A/S	23	rs1360534996	0.2099	None	gnomAD-3.1.2	6.57E-06
31728	21	A/S	23	rs1360534996	0.2099	None	gnomAD-4.0.0	6.57004E-06
31728	21	A/T	23	None	0.2099	None	gnomAD-4.0.0	3.18359E-06
31729	22	W/C	24	rs869320742	0.1214	HMERF	Literature	None
31729	22	W/C	24	rs869320742	0.1214	None	gnomAD-4.0.0	6.1583E-06
31729	22	W/L	24	rs786205367	0.1214	MFM HMERF	Literature	None
31729	22	W/R	24	rs869320741	0.1214	HMERF	Literature	None
31730	23	S/C	25	rs1213250473	0.3929	None	gnomAD-4.0.0	6.15831E-06
31730	23	S/G	25	rs1213250473	0.3929	None	gnomAD-2.1.1	4.03E-06
31730	23	S/G	25	rs1213250473	0.3929	None	gnomAD-4.0.0	6.84257E-07
31730	23	S/N	25	rs2555816	0.3929	None	gnomAD-4.0.0	1.20032E-06
31731	24	L/I	26	rs1364685585	0.7265	None	gnomAD-2.1.1	4.03E-06
31731	24	L/I	26	rs1364685585	0.7265	None	gnomAD-4.0.0	1.59148E-06
31732	25	P/L	27	rs753334568	0.1783	None	gnomAD-2.1.1	1.21E-05
31732	25	P/L	27	rs753334568	0.1783	None	gnomAD-3.1.2	1.31E-05
31732	25	P/L	27	rs753334568	0.1783	CM HMERF	Literature	None
31732	25	P/L	27	rs753334568	0.1783	None	gnomAD-4.0.0	9.29582E-06
31732	25	P/R	27	None	0.1783	None	gnomAD-4.0.0	6.84245E-07
31735	28	D/H	30	None	0.3251	None	gnomAD-4.0.0	1.36847E-06
31735	28	D/V	30	rs760640290	0.3251	None	gnomAD-2.1.1	4.03E-06
31735	28	D/V	30	rs760640290	0.3251	None	gnomAD-4.0.0	3.18276E-06
31736	29	G/A	31	rs1401862112	0.3151	None	gnomAD-4.0.0	4.10542E-06
31736	29	G/E	31	rs1401862112	0.3151	None	gnomAD-2.1.1	3.19E-05
31736	29	G/E	31	rs1401862112	0.3151	None	gnomAD-3.1.2	6.57E-06
31736	29	G/E	31	rs1401862112	0.3151	None	gnomAD-4.0.0	6.57065E-06
31736	29	G/R	31	rs771799061	0.3151	None	gnomAD-2.1.1	8.06E-06
31736	29	G/R	31	rs771799061	0.3151	None	gnomAD-3.1.2	6.57E-06
31736	29	G/R	31	rs771799061	0.3151	None	gnomAD-4.0.0	8.6759E-06
31737	30	G/E	32	rs1696939367	0.6178	None	gnomAD-3.1.2	6.57E-06
31737	30	G/E	32	rs1696939367	0.6178	None	gnomAD-4.0.0	6.57099E-06
31739	32	E/D	34	None	0.8843	None	gnomAD-4.0.0	6.84219E-07
31740	33	I/T	35	rs200781956	0.1900	None	gnomAD-2.1.1	8.05E-06
31740	33	I/T	35	rs200781956	0.1900	None	gnomAD-3.1.2	6.57E-06
31740	33	I/T	35	rs200781956	0.1900	None	gnomAD-4.0.0	6.57186E-06
31740	33	I/V	35	None	0.1900	None	gnomAD-4.0.0	1.20032E-06
31742	35	H/D	37	None	0.2117	None	gnomAD-4.0.0	1.36845E-06
31742	35	H/Q	37	rs771123318	0.2117	None	gnomAD-2.1.1	4.03E-06
31742	35	H/Q	37	rs771123318	0.2117	None	gnomAD-3.1.2	6.57E-06
31742	35	H/Q	37	rs771123318	0.2117	None	gnomAD-4.0.0	6.57099E-06
31742	35	H/R	37	rs774491202	0.2117	None	gnomAD-2.1.1	4.03E-06
31742	35	H/R	37	rs774491202	0.2117	None	gnomAD-3.1.2	6.57E-06
31742	35	H/R	37	rs774491202	0.2117	None	gnomAD-4.0.0	6.5703E-06
31743	36	Y/H	38	None	0.1168	None	gnomAD-4.0.0	2.40064E-06
31744	37	I/V	39	rs749403545	0.2482	None	gnomAD-2.1.1	1.61E-05
31744	37	I/V	39	rs749403545	0.2482	None	gnomAD-3.1.2	1.31E-05
31744	37	I/V	39	rs749403545	0.2482	None	gnomAD-4.0.0	9.29536E-06
31745	38	V/G	40	rs886042114	0.0953	None	gnomAD-3.1.2	6.57E-06
31745	38	V/G	40	rs886042114	0.0953	None	gnomAD-4.0.0	6.57177E-06
31745	38	V/L	40	None	0.0953	None	gnomAD-4.0.0	6.84225E-07
31745	38	V/M	40	rs377191543	0.0953	None	gnomAD-2.1.1	3.57E-05
31745	38	V/M	40	rs377191543	0.0953	None	gnomAD-3.1.2	2.63E-05
31745	38	V/M	40	rs377191543	0.0953	None	gnomAD-4.0.0	1.79711E-05
31746	39	E/G	41	None	0.1057	None	gnomAD-4.0.0	1.20032E-06
31747	40	R/I	42	None	0.2639	None	gnomAD-4.0.0	2.40064E-06
31748	41	R/C	43	rs142525903	0.1849	None	gnomAD-2.1.1	9.89512E-04
31748	41	R/C	43	rs142525903	0.1849	None	gnomAD-3.1.2	7.42688E-04
31748	41	R/C	43	rs142525903	0.1849	None	1000 genomes	1.19808E-03
31748	41	R/C	43	rs142525903	0.1849	None	gnomAD-4.0.0	5.91154E-04
31748	41	R/H	43	rs547575746	0.1849	None	gnomAD-2.1.1	1.21E-05
31748	41	R/H	43	rs547575746	0.1849	None	1000 genomes	None
31748	41	R/H	43	rs547575746	0.1849	None	gnomAD-4.0.0	1.84739E-05
31748	41	R/L	43	None	0.1849	None	gnomAD-4.0.0	6.84219E-07
31748	41	R/S	43	rs142525903	0.1849	None	gnomAD-2.1.1	4.02E-06
31748	41	R/S	43	rs142525903	0.1849	None	gnomAD-4.0.0	6.84216E-07
31749	42	E/A	44	None	0.1949	None	gnomAD-4.0.0	1.20032E-06
31749	42	E/D	44	None	0.1949	None	gnomAD-4.0.0	6.84213E-07
31749	42	E/K	44	rs139542862	0.1949	None	gnomAD-2.1.1	8.57E-05
31749	42	E/K	44	rs139542862	0.1949	None	gnomAD-3.1.2	1.24882E-04
31749	42	E/K	44	rs139542862	0.1949	None	1000 genomes	3.99361E-04
31749	42	E/K	44	rs139542862	0.1949	None	gnomAD-4.0.0	6.07269E-05
31751	44	S/C	54	rs372132740	0.6036	None	gnomAD-2.1.1	4.02E-06
31751	44	S/C	54	rs372132740	0.6036	None	gnomAD-3.1.2	1.31E-05
31751	44	S/C	54	rs372132740	0.6036	None	gnomAD-4.0.0	3.04475E-06
31751	44	S/G	54	rs372132740	0.6036	None	gnomAD-2.1.1	4.02E-06
31751	44	S/R	54	rs753420295	0.6036	None	gnomAD-2.1.1	4.02E-06
31751	44	S/R	54	rs753420295	0.6036	None	gnomAD-4.0.0	8.8948E-06
31751	44	S/T	54	rs1223455292	0.6036	None	gnomAD-2.1.1	4.02E-06
31754	47	N/T	64	None	0.8398	None	gnomAD-4.0.0	1.59121E-06
31755	48	W/C	65	rs755654150	0.2244	None	gnomAD-2.1.1	4.02E-06
31755	48	W/C	65	rs755654150	0.2244	None	gnomAD-4.0.0	1.59124E-06
31757	50	I/T	67	rs72648259	0.5589	None	gnomAD-2.1.1	3.89211E-04
31757	50	I/T	67	rs72648259	0.5589	None	gnomAD-3.1.2	4.86311E-04
31757	50	I/T	67	rs72648259	0.5589	None	1000 genomes	3.99361E-04
31757	50	I/T	67	rs72648259	0.5589	None	gnomAD-4.0.0	5.37846E-04
31757	50	I/V	67	None	0.5589	None	gnomAD-4.0.0	1.20032E-06
31758	51	V/D	68	None	0.2159	None	gnomAD-4.0.0	1.20032E-06
31759	52	E/A	69	rs767475236	0.1990	None	gnomAD-2.1.1	4.02E-06
31759	52	E/A	69	rs767475236	0.1990	None	gnomAD-4.0.0	1.59121E-06
31761	54	E/K	75	rs727505342	0.6762	None	gnomAD-2.1.1	1.21E-05
31761	54	E/K	75	rs727505342	0.6762	None	gnomAD-3.1.2	1.97E-05
31761	54	E/K	75	rs727505342	0.6762	None	gnomAD-4.0.0	9.29459E-06
31763	56	P/L	83	None	0.6459	None	gnomAD-4.0.0	2.40064E-06
31763	56	P/S	83	None	0.6459	None	gnomAD-4.0.0	1.20032E-06
31764	57	T/N	88	rs1357116939	0.4408	None	gnomAD-4.0.0	1.20032E-06
31764	57	T/S	88	rs1175551497	0.4408	None	gnomAD-2.1.1	4.02E-06
31764	57	T/S	88	rs1175551497	0.4408	None	gnomAD-4.0.0	1.36838E-06
31766	59	S/F	90	rs191484894	0.3119	None	gnomAD-2.1.1	3.38793E-03
31766	59	S/F	90	rs191484894	0.3119	None	gnomAD-3.1.2	1.77438E-03
31766	59	S/F	90	rs191484894	0.3119	None	1000 genomes	5.99042E-03
31766	59	S/F	90	rs191484894	0.3119	None	gnomAD-4.0.0	2.17057E-03
31767	60	Y/C	91	rs1431446089	0.2411	None	gnomAD-2.1.1	4.02E-06
31767	60	Y/C	91	rs1431446089	0.2411	None	gnomAD-4.0.0	4.77354E-06
31768	61	V/F	92	None	0.4206	None	gnomAD-4.0.0	1.36839E-06
31768	61	V/L	92	rs1696890603	0.4206	None	gnomAD-4.0.0	1.36839E-06
31769	62	V/F	93	None	0.1207	None	gnomAD-4.0.0	6.84196E-07
31769	62	V/I	93	rs374445709	0.1207	None	gnomAD-2.1.1	4.64E-05
31769	62	V/I	93	rs374445709	0.1207	None	gnomAD-3.1.2	5.26E-05
31769	62	V/I	93	rs374445709	0.1207	None	gnomAD-4.0.0	1.73513E-05
31770	63	T/N	94	rs1250046145	0.4522	None	gnomAD-2.1.1	4.02E-06
31770	63	T/N	94	rs1250046145	0.4522	None	gnomAD-4.0.0	3.18231E-06
31771	64	R/K	96	rs397517760	0.8588	None	gnomAD-2.1.1	8.04E-06
31771	64	R/K	96	rs397517760	0.8588	None	gnomAD-3.1.2	1.97E-05
31771	64	R/K	96	rs397517760	0.8588	None	gnomAD-4.0.0	1.9714E-05
31774	67	K/E	99	rs762265902	0.4443	None	gnomAD-2.1.1	5.36E-05
31774	67	K/E	99	rs762265902	0.4443	None	gnomAD-3.1.2	7.23E-05
31774	67	K/E	99	rs762265902	0.4443	None	gnomAD-4.0.0	1.07814E-04
31776	69	N/S	102	rs1696881072	0.2950	None	gnomAD-4.0.0	1.36838E-06
31777	70	E/A	103	rs955172279	0.2830	None	gnomAD-3.1.2	1.97E-05
31777	70	E/A	103	rs955172279	0.2830	None	gnomAD-4.0.0	7.68565E-06
31777	70	E/D	103	None	0.2830	None	gnomAD-4.0.0	1.20033E-06
31777	70	E/K	103	rs1203504106	0.2830	None	gnomAD-2.1.1	4.02E-06
31777	70	E/K	103	rs1203504106	0.2830	None	gnomAD-3.1.2	6.57E-06
31777	70	E/K	103	rs1203504106	0.2830	None	gnomAD-4.0.0	1.85901E-06
31778	71	Y/H	104	rs540043466	0.0941	None	gnomAD-4.0.0	1.20032E-06
31778	71	Y/N	104	rs540043466	0.0941	None	gnomAD-3.1.2	6.57E-06
31778	71	Y/N	104	rs540043466	0.0941	None	gnomAD-4.0.0	6.57324E-06
31779	72	I/T	105	rs1460359915	0.1620	None	gnomAD-2.1.1	1.07E-05
31779	72	I/T	105	rs1460359915	0.1620	None	gnomAD-3.1.2	2.63E-05
31779	72	I/T	105	rs1460359915	0.1620	None	gnomAD-4.0.0	1.4872E-05
31779	72	I/V	105	rs886039071	0.1620	None	gnomAD-3.1.2	6.57E-06
31779	72	I/V	105	rs886039071	0.1620	None	gnomAD-4.0.0	6.57091E-06
31780	73	F/C	106	rs1696875038	0.1162	None	gnomAD-3.1.2	6.57E-06
31780	73	F/C	106	rs1696875038	0.1162	None	gnomAD-4.0.0	6.57073E-06
31781	74	R/L	107	rs748984928	0.0972	None	gnomAD-2.1.1	8.04E-06
31781	74	R/L	107	rs748984928	0.0972	None	gnomAD-4.0.0	1.3684E-06
31781	74	R/P	107	rs748984928	0.0972	None	gnomAD-3.1.2	6.57E-06
31781	74	R/P	107	rs748984928	0.0972	None	gnomAD-4.0.0	6.57134E-06
31781	74	R/Q	107	None	0.0972	None	gnomAD-2.1.1	1.61E-05
31781	74	R/Q	107	None	0.0972	None	gnomAD-3.1.2	3.29E-05
31781	74	R/Q	107	None	0.0972	None	gnomAD-4.0.0	1.36329E-05
31782	75	V/L	108	rs377076423	0.0965	None	gnomAD-2.1.1	8.04E-06
31782	75	V/L	108	rs377076423	0.0965	None	gnomAD-4.0.0	2.05259E-06
31782	75	V/M	108	rs377076423	0.0965	None	gnomAD-2.1.1	1.07E-05
31782	75	V/M	108	rs377076423	0.0965	None	gnomAD-3.1.2	1.97E-05
31782	75	V/M	108	rs377076423	0.0965	None	gnomAD-4.0.0	3.09833E-06
31783	76	R/T	109	rs1696869417	0.2225	None	gnomAD-3.1.2	6.57E-06
31783	76	R/T	109	rs1696869417	0.2225	None	gnomAD-4.0.0	2.02984E-06
31784	77	A/T	110	None	0.1028	None	gnomAD-4.0.0	1.20032E-06
31784	77	A/V	110	rs1553520967	0.1028	HMERF	Literature	None
31785	78	V/I	111	rs755742174	0.1051	None	gnomAD-2.1.1	4.02E-06
31785	78	V/I	111	rs755742174	0.1051	None	gnomAD-4.0.0	8.21039E-06
31786	79	N/K	112	rs869320743	0.1035	HMERF	Literature	None
31786	79	N/K	112	rs869320743	0.1035	None	gnomAD-4.0.0	1.20033E-06
31786	79	N/S	112	rs1696865626	0.1035	None	gnomAD-4.0.0	1.20032E-06
31787	80	K/N	113	rs1225133278	0.4802	None	gnomAD-2.1.1	4.02E-06
31787	80	K/N	113	rs1225133278	0.4802	None	gnomAD-4.0.0	2.0526E-06
31787	80	K/T	113	None	0.4802	None	gnomAD-4.0.0	1.3684E-06
31788	81	Y/C	114	rs397517761	0.6574	None	gnomAD-4.0.0	1.20032E-06
31788	81	Y/H	114	rs1696861248	0.6574	None	gnomAD-3.1.2	1.31E-05
31788	81	Y/H	114	rs1696861248	0.6574	None	gnomAD-4.0.0	1.31428E-05
31789	82	G/D	115	None	0.2506	None	gnomAD-4.0.0	4.77377E-06
31789	82	G/R	115	rs1450258389	0.2506	None	gnomAD-2.1.1	4.02E-06
31790	83	P/S	117	rs1235693684	0.5852	None	gnomAD-2.1.1	3.18E-05
31790	83	P/S	117	rs1235693684	0.5852	None	gnomAD-3.1.2	6.57E-06
31790	83	P/S	117	rs1235693684	0.5852	None	gnomAD-4.0.0	2.56222E-06
31791	84	G/D	118	rs869320744	0.1474	MFM HMERF	Literature	None
31791	84	G/R	118	rs1696856005	0.1474	MFM HMERF	Literature	None
31791	84	G/V	118	None	0.1474	MFM HMERF	Literature	None
31792	85	V/A	119	None	0.4202	None	gnomAD-4.0.0	6.84225E-07
31792	85	V/G	119	rs767359045	0.4202	None	gnomAD-2.1.1	4.02E-06
31792	85	V/G	119	rs767359045	0.4202	None	gnomAD-4.0.0	1.36845E-06
31792	85	V/M	119	rs994348588	0.4202	None	gnomAD-2.1.1	8.05E-06
31792	85	V/M	119	rs994348588	0.4202	None	gnomAD-3.1.2	1.31E-05
31792	85	V/M	119	rs994348588	0.4202	None	gnomAD-4.0.0	5.57713E-06
31793	86	P/A	120	None	0.3099	None	gnomAD-4.0.0	1.36846E-06
31793	86	P/L	120	rs1696849077	0.3099	None	gnomAD-4.0.0	1.44039E-05
31793	86	P/T	120	rs1466581888	0.3099	None	gnomAD-2.1.1	4.02E-06
31793	86	P/T	120	rs1466581888	0.3099	None	gnomAD-4.0.0	3.42116E-06
31794	87	V/A	121	rs2154145428	0.2046	None	gnomAD-4.0.0	3.18273E-06
31794	87	V/L	121	rs1346238621	0.2046	None	gnomAD-2.1.1	3.18E-05
31795	88	E/Q	122	None	0.2693	None	gnomAD-4.0.0	1.20032E-06
31795	88	E/V	122	rs1441773765	0.2693	None	gnomAD-2.1.1	4.02E-06
31795	88	E/V	122	rs1441773765	0.2693	None	gnomAD-4.0.0	1.59138E-06
31797	90	E/K	125	rs1381214987	0.7048	None	gnomAD-4.0.0	6.84261E-07
31797	90	E/Q	125	rs1381214987	0.7048	None	gnomAD-2.1.1	4.03E-06
31797	90	E/Q	125	rs1381214987	0.7048	None	gnomAD-4.0.0	1.36852E-06
31797	90	E/V	125	rs1183343848	0.7048	None	gnomAD-2.1.1	4.03E-06
31797	90	E/V	125	rs1183343848	0.7048	None	gnomAD-4.0.0	4.7745E-06
31798	91	P/A	126	None	0.4239	None	gnomAD-4.0.0	1.20032E-06
31799	92	I/T	127	rs1696841409	0.2370	None	gnomAD-4.0.0	1.20032E-06
31799	92	I/V	127	rs370916420	0.2370	None	gnomAD-2.1.1	6.44E-05
31799	92	I/V	127	rs370916420	0.2370	None	gnomAD-3.1.2	4.6E-05
31799	92	I/V	127	rs370916420	0.2370	None	gnomAD-4.0.0	6.01123E-05
31800	93	V/A	129	None	0.3202	None	gnomAD-4.0.0	3.60097E-06
31800	93	V/I	129	rs766203953	0.3202	None	gnomAD-2.1.1	4.03E-06
31800	93	V/I	129	rs766203953	0.3202	None	gnomAD-4.0.0	3.184E-06
31803	96	N/T	132	rs2154145420	0.7600	None	gnomAD-3.1.2	6.57E-06

Position	Domain position	SAV	RS	Q(SASA)	Source	Structural Position	Disease	AlphaMissense (IC)	AlphaMissense (N2AB)	CADD	Condel	DUET	FATHMM	M-CAP	mCSM	MetaLR	MetaSVM	MPC	MutationAssessor	MutationTaster	MutPred	MVP	PolyPhen-2	PrimateAI	PROVEAN	REVEL	Rhapsody	SIFT	Zygosity	Comments	MAF	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH	Site Annotation	Predicted PPI	mCSM-PPI
31709	2	P/H	rs869320739	0.1185	http://www.ncbi.nlm.nih.gov/pubmed/30666435;	2	HMERF;	0.9968	0.9984	35.0	D	None	0.36	0.414471	-1.198	0.5733	0.6398	0.478253869194	4.385	1.0	0.762	0.530606565545	0.999	0.673968195915	-8.1	0.603	0.744	None	het	Genetic analysis of genes in 12 HMERF families; co-segregates with condition (n = 1, 1 affected (total 2))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31709	2	P/R	rs869320739	0.1185	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144;	2	HMERF;	0.9921	0.9952	32.0	D	-0.93	0.39	0.64395	-0.808	0.3763	-0.1115	0.126169370151	4.04	1.0	0.769	0.36256342048	0.235	0.684821546078	-8.1	0.811	0.464	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 3, 3 affected (total 6))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31710	3	G/S	rs770979567	0.2148	gnomAD-2.1.1	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	4.15E-06	0	0	0	0	None	0	None	4.15E-06	0	9.18E-06	0	None	N	None
31710	3	G/S	rs770979567	0.2148	gnomAD-3.1.2	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31710	3	G/S	rs770979567	0.2148	gnomAD-4.0.0	3	None	0.3359	0.3546	31.0	N	-1.127	0.67	0.11145	-1.153	0.3237	-0.4497	0.463496485926	1.635	1.0	0.365	0.264081493735	1.0	0.699509263039	-5.4	0.429	0.819	0.007	None	None	3.11743E-06	0	1.67966E-05	0	0	None	0	1.66113E-04	3.11743E-06	2.55574E-06	0	0	None	N	None
31711	4	P/L	None	0.3963	gnomAD-4.0.0	4	None	0.1432	0.1743	35.0	D	None	0.4	0.078754	-0.7	0.5018	0.2576	0.410852780124	2.98	1.0	0.489	0.653323239085	0.997	0.485599607229	-8.08	0.485	0.705	0.016	None	None	6.88534E-07	0	0	0	0	None	0	0	6.88534E-07	9.0413E-07	0	0	None	N	None
31712	5	C/R	rs869320740	0.1439	gnomAD-2.1.1	5	None	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	None	None	4.11E-06	0	0	0	0	None	0	None	4.11E-06	0	9.1E-06	0	None	N	None
31712	5	C/R	rs869320740	0.1439	http://www.ncbi.nlm.nih.gov/pubmed/22577215; http://www.ncbi.nlm.nih.gov/pubmed/22577218; http://www.ncbi.nlm.nih.gov/pubmed/23514108; http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24444549; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/25253871; http://www.ncbi.nlm.nih.gov/pubmed/25500009; http://www.ncbi.nlm.nih.gov/pubmed/30666435; http://www.ncbi.nlm.nih.gov/pubmed/32912888; http://www.ncbi.nlm.nih.gov/pubmed/34553419;	5	MFM; HMERF;	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	het	Found in multiple studies with full penetrance; WES prioritisation in single family; co-segregates in 3 families tested; WES/WGS prioritisation in 12 HMERF families, full penetrance; Genetic analysis of genes in 127 undiagnosed patients, likely MFM; Genetic analysis of genes in 12 HMERF families; WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF; Genetic analysis of CN patient (familial)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31712	5	C/R	rs869320740	0.1439	gnomAD-4.0.0	5	None	0.8445	0.9364	33.0	N	-1.28	0.64	0.101561	-1.338	0.244	-0.6217	0.55330903894	2.01	1.0	0.551	0.637424115254	0.996	0.645527899265	-6.78	0.791	0.743	0.063	None	None	3.43489E-06	0	0	0	0	None	1.88501E-05	0	3.43489E-06	2.7073E-06	0	1.66301E-05	None	N	None
31712	5	C/W	None	0.1439	http://www.ncbi.nlm.nih.gov/pubmed/34108290;	5	HMERF;	0.8964	0.9503	35.0	N	None	0.62	0.090194	-1.323	0.2535	-0.5982	0.522453031342	2.01	1.0	0.583	0.343101102393	0.999	0.61898869276	-7.15	0.399	0.679	0.014	het	Genetic analysis of single KR family with HMERF; co-segregates with condition (n = 2, 2 affected (total 2), 2 predeceased with similar pathology)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31712	5	C/Y	None	0.1439	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	5	MFM; HMERF;	0.7862	0.8868	35.0	N	-1.682	0.64	0.323025	-1.158	0.2617	-0.6289	0.557958373062	2.01	0.999952	0.485	0.515430650102	0.996	0.66642922163	-6.83	0.723	0.674	0.028	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31716	9	T/N	rs879097606	0.3938	gnomAD-4.0.0	11	None	0.0955	0.112	33.0	N	None	0.31	0.035246	-0.325	0.3192	-0.4667	0.385700388264	1.74	0.995628	0.41	0.359557344763	0.998	0.470650672913	-3.15	0.259	0.504	0.078	None	None	1.59902E-06	0	0	0	0	None	0	0	1.59902E-06	2.87495E-06	0	0	None	N	None
31716	9	T/S	None	0.3938	gnomAD-4.0.0	11	None	0.085	0.0976	26.7	N	None	0.46	0.075368	-0.614	0.1675	-0.7828	0.151187822174	0.98	0.957309	0.474	0.228597637076	0.828	0.408800601959	-2.35	0.142	0.476	0.113	None	None	1.59929E-06	0	0	0	0	None	0	0	1.59929E-06	2.87578E-06	0	0	None	N	None
31717	10	V/I	rs150930737	0.2804	gnomAD-2.1.1	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	6.85E-05	4.14E-05	8.52E-05	0	0	None	3.31E-05	None	6.85E-05	0	1.10751E-04	0	None	N	None
31717	10	V/I	rs150930737	0.2804	gnomAD-3.1.2	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	3.94E-05	2.41E-05	1.30873E-04	0	0	None	0	0	3.94E-05	2.94E-05	2.07297E-04	0	None	N	None
31717	10	V/I	rs150930737	0.2804	1000 genomes	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	1.99681E-04	8E-04	0	None	0	0	None	None	1.99681E-04	None	0	None	None	N	None
31717	10	V/I	rs150930737	0.2804	gnomAD-4.0.0	12	None	0.0657	0.0709	None	N	-0.378	None	None	-0.461	None	None	None	None	None	None	None	0.003	None	None	0.084	0.141	None	None	None	3.53841E-05	9.33607E-05	8.34251E-05	0	0	None	1.56573E-05	1.65453E-04	3.53841E-05	2.54709E-05	8.81154E-05	8.01847E-05	None	N	None
31718	11	S/I	rs758006837	0.3403	gnomAD-2.1.1	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	2.88E-05	0	0	0	0	None	0	None	2.88E-05	0	6.32E-05	0	None	N	None
31718	11	S/I	rs758006837	0.3403	gnomAD-3.1.2	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	3.29E-05	2.41E-05	0	0	0	None	0	0	3.29E-05	5.88E-05	0	0	None	N	None
31718	11	S/I	rs758006837	0.3403	gnomAD-4.0.0	13	None	0.2815	0.3229	None	N	0.063	None	None	-0.184	None	None	None	None	None	None	None	0.994	None	None	0.403	0.698	None	None	None	8.74991E-05	4.00588E-05	0	0	0	None	0	0	8.74991E-05	1.10336E-04	0	1.28271E-04	None	N	None
31718	11	S/N	None	0.3403	gnomAD-4.0.0	13	None	0.1937	0.2217	27.6	N	None	0.23	0.053876	-0.269	0.27	-0.5484	0.107153835273	2.13	0.999951	0.408	0.242244723065	0.4	0.612805485725	-2.37	0.219	0.268	0.082	None	None	6.85286E-07	0	0	0	0	None	0	0	6.85286E-07	9.00743E-07	0	0	None	N	None
31718	11	S/R	rs781462223	0.3403	gnomAD-2.1.1	13	None	0.73	0.7457	35.0	N	-0.151	0.27	0.058011	-0.341	0.4199	-0.1666	0.425696506401	2.095	0.999996	0.51	0.476908202251	0.997	0.621730327606	-3.97	0.589	0.617	0.03	None	None	5.27E-05	0	0	0	0	None	4.27603E-04	None	5.27E-05	0	0	0	None	N	None
31718	11	S/R	rs781462223	0.3403	gnomAD-4.0.0	13	None	0.73	0.7457	35.0	N	-0.151	0.27	0.058011	-0.341	0.4199	-0.1666	0.425696506401	2.095	0.999996	0.51	0.476908202251	0.997	0.621730327606	-3.97	0.589	0.617	0.03	None	None	6.85142E-07	0	0	0	0	None	0	0	6.85142E-07	9.00586E-07	0	0	None	N	None
31719	12	R/K	None	0.7418	gnomAD-4.0.0	14	None	0.152	0.1711	29.8	N	None	0.44	0.088792	-0.117	0.2326	-0.5968	0.462811898634	0.05	0.999598	0.508	0.29385284311	0.997	0.585062384605	-1.8	0.307	0.538	0.403	None	None	1.5955E-06	0	0	0	0	None	0	0	1.5955E-06	2.86781E-06	0	0	None	N	None
31720	13	V/A	None	0.2666	gnomAD-4.0.0	15	None	0.5476	0.5615	27.9	N	None	0.26	0.030173	-1.198	0.2535	-0.5752	0.129564647105	1.755	0.997195	0.624	0.596957824077	0.334	0.544869661331	-3.33	0.386	0.487	0.005	None	None	1.59454E-06	0	0	0	0	None	0	0	1.59454E-06	0	0	3.0281E-05	None	N	None
31720	13	V/E	rs1696965426	0.2666	gnomAD-3.1.2	15	None	0.7342	0.7694	34.0	N	None	0.25	0.051124	-1.017	0.4557	0.0726	0.379909709384	3.05	0.999848	0.752	0.674931257369	0.781	0.531563043594	-5.07	0.575	0.646	0.001	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31720	13	V/E	rs1696965426	0.2666	gnomAD-4.0.0	15	None	0.7342	0.7694	34.0	N	None	0.25	0.051124	-1.017	0.4557	0.0726	0.379909709384	3.05	0.999848	0.752	0.674931257369	0.781	0.531563043594	-5.07	0.575	0.646	0.001	None	None	6.57428E-06	2.41441E-05	0	0	0	None	0	0	6.57428E-06	0	0	0	None	N	None
31720	13	V/I	rs1575443877	0.2666	gnomAD-4.0.0	15	None	0.0713	0.0734	23.3	N	None	0.4	0.015347	-0.664	0.119	-0.9083	0.0693580137507	1.02	0.783856	0.486	0.270447802918	0.002	0.41344588995	-0.62	0.072	0.213	0.251	None	None	1.59457E-06	0	0	0	0	None	0	0	1.59457E-06	0	0	3.02737E-05	None	N	None
31721	14	T/I	None	0.2397	gnomAD-4.0.0	16	None	0.7582	0.781	35.0	N	None	0.15	0.161916	-0.065	0.5259	0.2059	0.480749730577	3.035	1.0	0.522	0.515715180578	1.0	0.724783480167	-5.17	0.527	0.755	0.004	None	None	6.84617E-07	0	0	0	0	None	0	0	6.84617E-07	8.99956E-07	0	0	None	N	None
31723	16	E/K	rs1225039103	0.5229	gnomAD-2.1.1	18	None	0.6829	0.6814	35.0	N	-0.021	0.44	0.055397	-0.254	0.3662	-0.3421	0.489131336793	1.39	1.0	0.628	0.355450299083	0.999	0.683223247528	-3.4	0.4	0.579	0.009	None	None	4.04E-06	0	0	0	0	None	3.27E-05	None	4.04E-06	0	0	0	None	N	None
31723	16	E/K	rs1225039103	0.5229	gnomAD-4.0.0	18	None	0.6829	0.6814	35.0	N	-0.021	0.44	0.055397	-0.254	0.3662	-0.3421	0.489131336793	1.39	1.0	0.628	0.355450299083	0.999	0.683223247528	-3.4	0.4	0.579	0.009	None	None	1.59239E-06	0	0	0	0	None	0	0	1.59239E-06	0	1.43349E-05	0	None	N	None
31724	17	K/Q	rs1322640877	0.5408	gnomAD-2.1.1	19	None	0.3846	0.4196	35.0	N	-1.035	0.43	0.02812	-0.773	0.3076	-0.45	0.478647829999	1.58	0.999982	0.533	0.214338557667	1.0	0.669890522957	-2.83	0.408	0.692	0.036	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.93E-06	0	None	N	None
31724	17	K/Q	rs1322640877	0.5408	gnomAD-4.0.0	19	None	0.3846	0.4196	35.0	N	-1.035	0.43	0.02812	-0.773	0.3076	-0.45	0.478647829999	1.58	0.999982	0.533	0.214338557667	1.0	0.669890522957	-2.83	0.408	0.692	0.036	None	None	1.59222E-06	0	0	0	0	None	0	0	1.59222E-06	2.86017E-06	0	0	None	N	None
31725	18	C/G	None	0.0954	gnomAD-4.0.0	20	None	0.6022	0.6873	35.0	N	None	0.48	0.098386	-1.795	0.4764	0.2089	0.515532960109	2.915	1.0	0.643	0.848252707701	1.0	0.795032978058	-9.4	0.595	0.841	0.001	None	None	6.84342E-07	0	0	0	0	None	0	0	6.84342E-07	8.99603E-07	0	0	None	N	None
31725	18	C/R	rs1295856798	0.0954	gnomAD-3.1.2	20	None	0.9956	0.997	35.0	N	None	0.44	0.12374	-1.096	0.4764	0.2089	0.615612516959	2.915	1.0	0.621	0.840290290131	1.0	0.863804221153	-9.43	0.608	0.886	0.002	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31725	18	C/R	rs1295856798	0.0954	gnomAD-4.0.0	20	None	0.9956	0.997	35.0	N	None	0.44	0.12374	-1.096	0.4764	0.2089	0.615612516959	2.915	1.0	0.621	0.840290290131	1.0	0.863804221153	-9.43	0.608	0.886	0.002	None	None	1.85936E-06	0	0	0	0	None	0	0	1.85936E-06	2.54318E-06	0	0	None	N	None
31726	19	T/A	rs761422470	0.2169	gnomAD-2.1.1	21	None	0.1857	0.1998	35.0	D	-1.068	0.31	0.035651	-0.934	0.3508	-0.3217	0.400853539877	2.075	0.999998	0.533	0.225215365344	0.998	0.587307155132	-4.12	0.502	0.473	0.018	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	0	1.66058E-04	None	N	None
31726	19	T/A	rs761422470	0.2169	gnomAD-4.0.0	21	None	0.1857	0.1998	35.0	D	-1.068	0.31	0.035651	-0.934	0.3508	-0.3217	0.400853539877	2.075	0.999998	0.533	0.225215365344	0.998	0.587307155132	-4.12	0.502	0.473	0.018	None	None	2.73723E-06	0	0	0	0	None	0	3.47222E-04	2.73723E-06	1.79914E-06	0	0	None	N	None
31726	19	T/S	None	0.2169	gnomAD-4.0.0	21	None	0.1738	0.186	34.0	N	None	0.39	0.048039	-1.197	0.2695	-0.5958	0.345281913784	1.785	0.999987	0.554	0.199424873507	0.996	0.592045545578	-3.05	0.401	0.479	0.085	None	None	1.36861E-06	0	0	0	0	None	0	0	1.36861E-06	1.79914E-06	0	0	None	N	None
31727	20	L/S	None	0.1099	gnomAD-4.0.0	22	None	0.9842	0.9905	35.0	D	None	-0.16	0.145489	-2.937	0.5945	0.545	0.49287828436	4.14	0.999887	0.738	0.871487081793	0.994	0.621750354767	-4.93	0.685	0.795	0.001	None	None	2.40064E-06	0	0	1.94099E-04	0	None	0	0	2.40064E-06	1.3125E-06	0	0	None	N	None
31728	21	A/S	rs1360534996	0.2099	gnomAD-3.1.2	23	None	0.0726	0.077	24.7	N	None	0.73	0.014747	-1.385	0.0547	-1.0047	0.0860152842358	-1.075	0.520624	0.361	0.184867976434	0.025	0.507393538952	-0.67	0.077	0.331	0.629	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31728	21	A/S	rs1360534996	0.2099	gnomAD-4.0.0	23	None	0.0726	0.077	24.7	N	None	0.73	0.014747	-1.385	0.0547	-1.0047	0.0860152842358	-1.075	0.520624	0.361	0.184867976434	0.025	0.507393538952	-0.67	0.077	0.331	0.629	None	None	6.57004E-06	0	0	0	0	None	0	0	6.57004E-06	1.47003E-05	0	0	None	N	None
31728	21	A/T	None	0.2099	gnomAD-4.0.0	23	None	0.0729	0.0738	25.7	N	None	0.53	0.056105	-1.19	0.0972	-0.7507	0.22973312364	0.025	0.727958	0.404	0.313818047136	0.698	0.544990062714	-2.2	0.102	0.467	0.304	None	None	3.18359E-06	0	0	0	0	None	0	0	3.18359E-06	5.7186E-06	0	0	None	N	None
31729	22	W/C	rs869320742	0.1214	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/29997562; http://www.ncbi.nlm.nih.gov/pubmed/30666435;	24	HMERF;	0.9937	0.9945	35.0	D	-1.772	-2.1	0.906106	-2.137	0.9126	1.075	0.580146131267	4.065	1.0	0.88	0.905035043352	1.0	0.737920999527	-11.7	0.956	0.865	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, full penetrance (n = 2, 2 affected (total 4)); Genetic analysis of genes in 12 HMERF families (n = 4, 4 affected)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31729	22	W/C	rs869320742	0.1214	gnomAD-4.0.0	24	None	0.9937	0.9945	35.0	D	-1.772	-2.1	0.906106	-2.137	0.9126	1.075	0.580146131267	4.065	1.0	0.88	0.905035043352	1.0	0.737920999527	-11.7	0.956	0.865	None	None	None	6.1583E-06	0	0	0	0	None	0	0	6.1583E-06	8.09561E-06	0	0	None	N	None
31729	22	W/L	rs786205367	0.1214	http://www.ncbi.nlm.nih.gov/pubmed/23446887;	24	MFM; HMERF;	0.9589	0.9639	35.0	D	-2.41	-2.05	0.886584	-2.078	0.8963	1.0594	0.615072577956	4.065	1.0	0.817	0.947208517384	1.0	0.743577480316	-11.7	0.903	0.851	None	het	Genetic analysis of single JP family; co-segregates within family (n = 5, 5 affected (total 10)); linkage analysis; not found in ethnic controls	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31729	22	W/R	rs869320741	0.1214	http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/34553419;	24	HMERF;	0.999	0.9992	34.0	D	-2.066	-2.1	0.826566	-2.347	0.9048	1.0871	0.615612516959	4.41	1.0	0.866	0.922935033018	1.0	0.772392213345	-12.6	0.934	0.917	None	het	WES/WGS prioritisation in 12 HMERF families; dominant effect, unknown penetrance	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31730	23	S/C	rs1213250473	0.3929	gnomAD-4.0.0	25	None	0.0932	0.0987	26.4	N	None	0.23	0.051686	-0.459	0.2691	-0.4844	0.205046829069	1.335	0.991249	0.594	0.40032279838	0.851	0.369446098804	-3.65	0.282	0.429	0.019	None	None	6.15831E-06	0	0	0	0	None	0	0	6.15831E-06	8.09556E-06	0	0	None	N	None
31730	23	S/G	rs1213250473	0.3929	gnomAD-2.1.1	25	None	0.0743	0.0722	25.3	N	-0.861	0.26	0.027417	-0.835	0.1554	-0.8744	0.0842442114282	0.295	0.962798	0.56	0.144782658237	0.042	0.340060412884	-2.3	0.13	0.241	0.24	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.92E-06	0	None	N	None
31730	23	S/G	rs1213250473	0.3929	gnomAD-4.0.0	25	None	0.0743	0.0722	25.3	N	-0.861	0.26	0.027417	-0.835	0.1554	-0.8744	0.0842442114282	0.295	0.962798	0.56	0.144782658237	0.042	0.340060412884	-2.3	0.13	0.241	0.24	None	None	6.84257E-07	0	0	0	0	None	0	0	6.84257E-07	8.99507E-07	0	0	None	N	None
31730	23	S/N	rs2555816	0.3929	gnomAD-4.0.0	25	None	0.0629	0.0608	25.5	N	None	0.32	0.025395	-0.531	0.0862	-1.0504	0.0778949114422	0.135	0.97774	0.524	0.0551355673512	None	0.381716907024	-0.82	0.073	0.103	0.216	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31731	24	L/I	rs1364685585	0.7265	gnomAD-2.1.1	26	None	0.072	0.08	25.1	N	-0.643	0.44	0.026084	-0.592	0.0876	-1.009	0.0908942553913	-0.285	0.931437	0.37	0.230578612272	None	0.508881211281	-0.78	0.06	0.079	0.514	None	None	4.03E-06	0	2.9E-05	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31731	24	L/I	rs1364685585	0.7265	gnomAD-4.0.0	26	None	0.072	0.08	25.1	N	-0.643	0.44	0.026084	-0.592	0.0876	-1.009	0.0908942553913	-0.285	0.931437	0.37	0.230578612272	None	0.508881211281	-0.78	0.06	0.079	0.514	None	None	1.59148E-06	0	0	0	0	None	0	0	1.59148E-06	0	0	3.02444E-05	None	N	None
31732	25	P/L	rs753334568	0.1783	gnomAD-2.1.1	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	1.21E-05	0	0	0	0	None	3.27E-05	None	1.21E-05	0	1.78E-05	0	None	N	None
31732	25	P/L	rs753334568	0.1783	gnomAD-3.1.2	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	None
31732	25	P/L	rs753334568	0.1783	http://www.ncbi.nlm.nih.gov/pubmed/22526018; http://www.ncbi.nlm.nih.gov/pubmed/23486992; http://www.ncbi.nlm.nih.gov/pubmed/23606733; http://www.ncbi.nlm.nih.gov/pubmed/24636144; http://www.ncbi.nlm.nih.gov/pubmed/25500009; http://www.ncbi.nlm.nih.gov/pubmed/33449170; http://www.ncbi.nlm.nih.gov/pubmed/34670883;	27	CM; HMERF;	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	hom / comp het with R34091W	Incomplete penetrance, more severe when homozygous; Found in genetic analysis of TTN in 30 CM patients (homozygous); genetic analysis of genes in 127 undiagnosed patients (likely MFM); WES/WGS prioritisation in 12 HMERF families; genetic analysis in single NMD patient (heterozygous); genetic analysis of CN patient (sporadic) and unaffected carrier (brother); Domain unfolded in vitro (Tm 17 degrees lower than WT)	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31732	25	P/L	rs753334568	0.1783	gnomAD-4.0.0	27	None	0.9061	0.9487	35.0	D	-0.671	-0.83	0.343457	-0.762	0.7892	0.8939	0.469182032742	4.295	1.0	0.791	0.908895312635	1.0	0.702523589134	-9.0	0.727	0.888	None	None	None	9.29582E-06	0	1.66706E-05	0	0	None	0	0	9.29582E-06	1.01715E-05	1.09786E-05	1.60123E-05	None	N	None
31732	25	P/R	None	0.1783	gnomAD-4.0.0	27	None	0.9881	0.9928	35.0	D	None	-0.87	0.305465	-0.9	0.7441	0.7319	0.4773412541	3.49	1.0	0.817	0.817229753402	1.0	0.694204866886	-8.1	0.764	0.879	None	None	None	6.84245E-07	0	0	0	0	None	0	0	6.84245E-07	0	1.15937E-05	0	None	N	None
31735	28	D/H	None	0.3251	gnomAD-4.0.0	30	None	0.7492	0.8421	34.0	N	None	0.3	0.109803	-0.617	0.5153	0.1624	0.503932569898	3.285	1.0	0.444	0.434272847907	1.0	0.631531894207	-5.83	0.562	0.637	None	None	None	1.36847E-06	0	0	0	0	None	0	0	1.36847E-06	1.79898E-06	0	0	None	I	None
31735	28	D/V	rs760640290	0.3251	gnomAD-2.1.1	30	None	0.6031	0.7668	35.0	N	0.191	0.32	0.142792	0.108	0.5129	0.2634	0.551701854119	2.89	1.0	0.547	0.744084085339	1.0	0.565736472607	-7.77	0.595	0.712	None	None	None	4.03E-06	0	0	0	0	None	3.27E-05	None	4.03E-06	0	0	0	None	I	None
31735	28	D/V	rs760640290	0.3251	gnomAD-4.0.0	30	None	0.6031	0.7668	35.0	N	0.191	0.32	0.142792	0.108	0.5129	0.2634	0.551701854119	2.89	1.0	0.547	0.744084085339	1.0	0.565736472607	-7.77	0.595	0.712	None	None	None	3.18276E-06	0	0	0	0	None	0	0	3.18276E-06	0	1.43279E-05	3.02425E-05	None	I	None
31736	29	G/A	rs1401862112	0.3151	gnomAD-4.0.0	31	None	0.9151	0.9515	33.0	D	None	0.42	0.162239	-0.201	0.5315	0.3314	0.480971576196	3.26	1.0	0.554	0.341226946553	1.0	0.574804663658	-5.4	0.555	0.727	None	None	None	4.10542E-06	0	0	0	0	None	0	0	4.10542E-06	5.39694E-06	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3151	gnomAD-2.1.1	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	3.19E-05	0	0	0	0	None	0	None	3.19E-05	2.87853E-04	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3151	gnomAD-3.1.2	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	I	None
31736	29	G/E	rs1401862112	0.3151	gnomAD-4.0.0	31	None	0.996	0.9975	34.0	D	-0.569	0.44	0.440336	-0.542	0.5628	0.4588	0.526218639335	3.75	1.0	0.639	0.630653710976	1.0	0.642987132072	-7.2	0.673	0.847	None	None	None	6.57065E-06	0	0	0	0	None	0	0	6.57065E-06	1.46994E-05	0	0	None	I	None
31736	29	G/R	rs771799061	0.3151	gnomAD-2.1.1	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	8.06E-06	0	2.9E-05	0	0	None	3.27E-05	None	8.06E-06	0	0	0	None	I	None
31736	29	G/R	rs771799061	0.3151	gnomAD-3.1.2	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	0	2.06868E-04	0	None	I	None
31736	29	G/R	rs771799061	0.3151	gnomAD-4.0.0	31	None	0.9837	0.9891	34.0	N	-0.42	0.44	0.198204	-0.224	0.4683	0.0619	0.506463245118	2.83	1.0	0.639	0.66194393445	1.0	0.662546098232	-7.2	0.606	0.827	None	None	None	8.6759E-06	0	1.66672E-05	0	6.69135E-05	None	0	1.64528E-04	8.6759E-06	5.93339E-06	2.19568E-05	0	None	I	None
31737	30	G/E	rs1696939367	0.6178	gnomAD-3.1.2	32	None	0.9205	0.9261	34.0	D	None	-0.13	0.239999	-0.516	0.5827	0.3436	0.526218639335	3.04	1.0	0.454	0.683185250435	1.0	0.680708289146	-7.2	0.66	0.793	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	I	None
31737	30	G/E	rs1696939367	0.6178	gnomAD-4.0.0	32	None	0.9205	0.9261	34.0	D	None	-0.13	0.239999	-0.516	0.5827	0.3436	0.526218639335	3.04	1.0	0.454	0.683185250435	1.0	0.680708289146	-7.2	0.66	0.793	None	None	None	6.57099E-06	0	0	0	0	None	0	0	6.57099E-06	1.46985E-05	0	0	None	I	None
31739	32	E/D	None	0.8843	gnomAD-4.0.0	34	None	0.0898	0.0912	24.2	N	None	0.35	0.010112	-0.201	0.0943	-0.9845	0.0867052795859	0.585	0.94924	0.445	0.110078149338	0.024	0.378312498331	-1.47	0.025	0.272	0.249	None	None	6.84219E-07	0	0	0	0	None	0	0	6.84219E-07	8.99475E-07	0	0	None	I	None
31740	33	I/T	rs200781956	0.1900	gnomAD-2.1.1	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	8.05E-06	1.29199E-04	0	0	0	None	0	None	8.05E-06	0	0	0	None	I	None
31740	33	I/T	rs200781956	0.1900	gnomAD-3.1.2	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	I	None
31740	33	I/T	rs200781956	0.1900	gnomAD-4.0.0	35	None	0.8765	0.9222	None	D	-2.375	None	None	-2.082	None	None	None	None	None	None	None	0.062	None	None	0.473	0.711	None	None	None	6.57186E-06	2.41289E-05	0	0	0	None	0	0	6.57186E-06	0	0	0	None	I	None
31740	33	I/V	None	0.1900	gnomAD-4.0.0	35	None	0.1003	0.1356	23.5	N	None	0.21	0.015155	-1.532	0.1281	-0.94	0.0704899027279	0.355	0.97344	0.533	0.415055319159	None	0.540414512157	-0.61	0.121	0.128	0.369	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31742	35	H/D	None	0.2117	gnomAD-4.0.0	37	None	0.5909	0.4798	33.0	N	None	0.45	0.078955	-0.702	0.3761	-0.3079	0.540324238068	1.645	1.0	0.581	0.439763647824	1.0	0.753438413143	-6.6	0.505	0.722	0.044	None	None	1.36845E-06	0	0	0	0	None	0	0	1.36845E-06	1.79894E-06	0	0	None	N	None
31742	35	H/Q	rs771123318	0.2117	gnomAD-2.1.1	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	4.03E-06	6.46E-05	0	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31742	35	H/Q	rs771123318	0.2117	gnomAD-3.1.2	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31742	35	H/Q	rs771123318	0.2117	gnomAD-4.0.0	37	None	0.5493	0.4492	28.1	N	-0.266	0.44	0.029906	-0.593	0.3524	-0.2835	0.464746737721	2.38	0.999919	0.53	0.453024522228	1.0	0.738911509514	-5.83	0.442	0.686	0.008	None	None	6.57099E-06	2.41208E-05	0	0	0	None	0	0	6.57099E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.2117	gnomAD-2.1.1	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	4.03E-06	6.46E-05	0	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.2117	gnomAD-3.1.2	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31742	35	H/R	rs774491202	0.2117	gnomAD-4.0.0	37	None	0.3645	0.2797	34.0	N	-1.008	0.49	0.038587	-1.076	0.2987	-0.4753	0.509939644612	1.54	1.0	0.598	0.347217280506	1.0	0.759366393089	-5.7	0.496	0.659	0.006	None	None	6.5703E-06	2.41243E-05	0	0	0	None	0	0	6.5703E-06	0	0	0	None	N	None
31743	36	Y/H	None	0.1168	gnomAD-4.0.0	38	None	0.9026	0.8799	35.0	D	None	-1.46	0.392808	-2.51	0.8381	1.0062	0.52537510995	4.255	0.999999	0.788	0.754091465348	1.0	0.794683933258	-4.5	0.871	0.795	None	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	1.3125E-06	0	3.66327E-05	None	N	None
31744	37	I/V	rs749403545	0.2482	gnomAD-2.1.1	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	1.61E-05	6.46E-05	2.9E-05	0	0	None	0	None	1.61E-05	0	1.78E-05	0	None	I	None
31744	37	I/V	rs749403545	0.2482	gnomAD-3.1.2	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	1.31E-05	2.41E-05	0	0	0	None	0	0	1.31E-05	1.47E-05	0	0	None	I	None
31744	37	I/V	rs749403545	0.2482	gnomAD-4.0.0	39	None	0.071	0.0669	25.7	N	-1.62	0.46	0.016471	-1.855	0.0901	-1.0535	0.0722674987003	0.005	0.977625	0.289	0.372087925617	0.016	0.514977753162	-0.63	0.029	0.243	0.436	None	None	9.29536E-06	2.66951E-05	1.66678E-05	0	0	None	0	0	9.29536E-06	1.01713E-05	0	0	None	I	None
31745	38	V/G	rs886042114	0.0953	gnomAD-3.1.2	40	None	0.9232	0.901	35.0	D	None	-0.37	0.14743	-2.992	0.6468	0.6518	0.470077644791	4.02	1.0	0.665	0.896930761969	0.983	0.534128785133	-6.3	0.724	0.899	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31745	38	V/G	rs886042114	0.0953	gnomAD-4.0.0	40	None	0.9232	0.901	35.0	D	None	-0.37	0.14743	-2.992	0.6468	0.6518	0.470077644791	4.02	1.0	0.665	0.896930761969	0.983	0.534128785133	-6.3	0.724	0.899	None	None	None	6.57177E-06	0	0	0	0	None	0	0	6.57177E-06	1.47003E-05	0	0	None	N	None
31745	38	V/L	None	0.0953	gnomAD-4.0.0	40	None	0.2823	0.2445	24.1	N	None	-0.07	0.029929	-0.622	0.2258	-0.6452	0.20217626629	1.745	0.99984	0.518	0.571897645862	0.598	0.633503139019	-2.63	0.208	0.493	0.065	None	None	6.84225E-07	0	0	0	0	None	1.87294E-05	0	6.84225E-07	0	0	0	None	N	None
31745	38	V/M	rs377191543	0.0953	gnomAD-2.1.1	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	3.57E-05	8.26E-05	2.83E-05	0	1.02764E-04	None	3.27E-05	None	3.57E-05	4E-05	2.35E-05	0	None	N	None
31745	38	V/M	rs377191543	0.0953	gnomAD-3.1.2	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	2.63E-05	7.24E-05	6.54E-05	0	0	None	0	0	2.63E-05	0	0	0	None	N	None
31745	38	V/M	rs377191543	0.0953	gnomAD-4.0.0	40	None	0.4794	0.4185	None	D	-1.212	None	None	-0.874	None	None	None	None	None	None	None	0.994	None	None	0.507	0.693	None	None	None	1.79711E-05	8.00918E-05	1.66683E-05	0	4.45891E-05	None	1.56211E-05	0	1.79711E-05	1.35619E-05	3.2933E-05	0	None	N	None
31746	39	E/G	None	0.1057	gnomAD-4.0.0	41	None	0.9306	0.9155	35.0	D	None	0.26	0.045045	-1.726	0.5548	0.43	0.500420847697	4.19	0.999999	0.544	0.500050830518	1.0	0.687032699585	-6.3	0.584	0.799	0.002	None	None	1.20032E-06	6.33473E-05	0	0	0	None	0	0	1.20032E-06	0	0	0	None	N	None
31747	40	R/I	None	0.2639	gnomAD-4.0.0	42	None	0.861	0.8821	32.0	N	None	0.48	0.096974	-0.956	0.3374	-0.4328	0.615612516959	1.53	1.0	0.606	0.627195870872	1.0	0.754267275333	-5.92	0.446	0.885	0.052	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	2.625E-06	0	0	None	I	None
31748	41	R/C	rs142525903	0.1849	gnomAD-2.1.1	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	9.89512E-04	1.23987E-03	4.24713E-04	1.69344E-02	0	None	3.27E-05	None	9.89512E-04	0	3.20628E-04	2.10615E-03	None	N	None
31748	41	R/C	rs142525903	0.1849	gnomAD-3.1.2	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	7.42688E-04	8.68768E-04	2.61849E-04	1.49942E-02	0	None	0	0	7.42688E-04	2.2053E-04	0	2.87356E-03	None	N	None
31748	41	R/C	rs142525903	0.1849	1000 genomes	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	1.19808E-03	4.5E-03	0	None	0	0	None	None	1.19808E-03	None	0	None	None	N	None
31748	41	R/C	rs142525903	0.1849	gnomAD-4.0.0	43	None	0.6683	0.6592	None	N	-1.626	None	None	-1.875	None	None	None	None	None	None	None	1.0	None	None	0.496	0.903	None	None	None	5.91154E-04	1.23964E-03	3.99933E-04	1.67917E-02	0	None	0	3.63036E-03	5.91154E-04	1.72066E-04	1.09791E-05	1.8247E-03	None	N	None
31748	41	R/H	rs547575746	0.1849	gnomAD-2.1.1	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	1.21E-05	0	0	0	0	None	0	None	1.21E-05	0	2.67E-05	0	None	N	None
31748	41	R/H	rs547575746	0.1849	1000 genomes	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	None	0	0	None	0	0	None	None	None	None	0	None	None	N	None
31748	41	R/H	rs547575746	0.1849	gnomAD-4.0.0	43	None	0.7752	0.7991	35.0	N	-2.626	0.26	0.053942	-2.119	0.5259	0.2059	0.515550123524	3.1	1.0	0.775	0.403469152278	1.0	0.749572873116	-4.17	0.678	0.762	0.01	None	None	1.84739E-05	0	0	0	2.52054E-05	None	0	0	1.84739E-05	1.8889E-05	3.47802E-05	3.31334E-05	None	N	None
31748	41	R/L	None	0.1849	gnomAD-4.0.0	43	None	0.9406	0.9595	35.0	N	None	0.31	0.082512	-1.068	0.5048	0.1192	0.516030974754	2.71	1.0	0.8	0.602559457607	1.0	0.751916527748	-5.9	0.68	0.779	0.011	None	None	6.84219E-07	0	0	0	0	None	0	0	6.84219E-07	8.99475E-07	0	0	None	N	None
31748	41	R/S	rs142525903	0.1849	gnomAD-2.1.1	43	None	0.9928	0.9932	33.0	N	-1.926	0.4	0.078116	-2.175	0.386	-0.272	0.491463298746	1.8	1.0	0.766	0.403328974453	1.0	0.738461136818	-4.63	0.559	0.773	0.092	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31748	41	R/S	rs142525903	0.1849	gnomAD-4.0.0	43	None	0.9928	0.9932	33.0	N	-1.926	0.4	0.078116	-2.175	0.386	-0.272	0.491463298746	1.8	1.0	0.766	0.403328974453	1.0	0.738461136818	-4.63	0.559	0.773	0.092	None	None	6.84216E-07	0	0	0	0	None	0	0	6.84216E-07	0	1.15934E-05	0	None	N	None
31749	42	E/A	None	0.1949	gnomAD-4.0.0	44	None	0.9492	0.9696	35.0	N	None	0.32	0.034329	-0.95	0.4085	-0.1478	0.476869963243	2.33	0.999992	0.502	0.435699915968	0.999	0.709261596203	-5.03	0.563	0.643	0.008	None	None	1.20032E-06	0	0	0	2.75482E-04	None	0	0	1.20032E-06	0	0	0	None	N	None
31749	42	E/D	None	0.1949	gnomAD-4.0.0	44	None	0.8144	0.855	31.0	N	None	0.33	0.039873	-1.339	0.2342	-0.5844	0.442122350618	0.915	0.844455	0.33	0.388653054685	0.999	0.708458185196	-1.39	0.141	0.458	0.356	None	None	6.84213E-07	0	0	0	0	None	0	0	6.84213E-07	0	1.15931E-05	0	None	N	None
31749	42	E/K	rs139542862	0.1949	gnomAD-2.1.1	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	8.57E-05	2.89304E-04	2.83E-05	0	0	None	3.27E-05	None	8.57E-05	0	1.17277E-04	0	None	N	None
31749	42	E/K	rs139542862	0.1949	gnomAD-3.1.2	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	1.24882E-04	2.65508E-04	0	0	0	None	0	0	1.24882E-04	1.17599E-04	0	0	None	N	None
31749	42	E/K	rs139542862	0.1949	1000 genomes	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	3.99361E-04	1.5E-03	0	None	0	0	None	None	3.99361E-04	None	0	None	None	N	None
31749	42	E/K	rs139542862	0.1949	gnomAD-4.0.0	44	None	0.972	0.9802	None	N	-0.806	None	None	-0.793	None	None	None	None	None	None	None	1.0	None	None	0.419	0.573	None	None	None	6.07269E-05	1.99957E-04	0	0	0	None	3.12471E-05	0	6.07269E-05	6.61135E-05	2.19573E-05	1.60072E-05	None	N	None
31751	44	S/C	rs372132740	0.6036	gnomAD-2.1.1	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31751	44	S/C	rs372132740	0.6036	gnomAD-3.1.2	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	None
31751	44	S/C	rs372132740	0.6036	gnomAD-4.0.0	54	None	0.5644	0.5206	None	N	-0.307	None	None	-0.421	None	None	None	None	None	None	None	1.0	None	None	0.574	0.67	None	None	None	3.04475E-06	0	0	0	0	None	0	0	3.04475E-06	3.61474E-06	0	0	None	N	None
31751	44	S/G	rs372132740	0.6036	gnomAD-2.1.1	54	None	0.3106	0.2925	32.0	N	-0.561	0.57	0.022976	-0.231	0.2541	-0.575	0.443632335628	0.67	0.99997	0.405	0.247322355667	0.999	0.640796303749	-2.37	0.29	0.418	0.061	None	None	4.02E-06	0	0	0	5.58E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31751	44	S/R	rs753420295	0.6036	gnomAD-2.1.1	54	None	0.9744	0.9605	33.0	N	-0.143	0.42	0.044515	-0.156	0.2993	-0.4593	0.489826376215	1.24	0.999169	0.541	0.327686398923	1.0	0.727062344551	-3.9	0.591	0.604	0.149	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31751	44	S/R	rs753420295	0.6036	gnomAD-4.0.0	54	None	0.9744	0.9605	33.0	N	-0.143	0.42	0.044515	-0.156	0.2993	-0.4593	0.489826376215	1.24	0.999169	0.541	0.327686398923	1.0	0.727062344551	-3.9	0.591	0.604	0.149	None	None	8.8948E-06	0	0	0	0	None	0	0	8.8948E-06	1.07936E-05	0	1.65678E-05	None	N	None
31751	44	S/T	rs1223455292	0.6036	gnomAD-2.1.1	54	None	0.2847	0.2262	29.6	N	-0.209	0.41	0.047277	-0.31	0.3731	-0.3139	0.444156248343	1.125	0.999989	0.464	0.269558022972	0.999	0.675976037979	-2.43	0.306	0.403	0.061	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	N	None
31754	47	N/T	None	0.8398	gnomAD-4.0.0	64	None	0.1965	0.1985	34.0	N	None	0.43	0.034367	0.002	0.1324	-0.7378	0.332056083419	-0.18	1.0	0.499	0.243972157842	0.904	0.412829428911	-4.43	0.409	0.435	0.193	None	None	1.59121E-06	0	0	0	0	None	0	0	1.59121E-06	2.85814E-06	0	0	None	I	None
31755	48	W/C	rs755654150	0.2244	gnomAD-2.1.1	65	None	0.9981	0.9971	35.0	D	-1.199	0.44	0.309834	-1.203	0.5524	0.4173	0.580146131267	4.005	1.0	0.688	0.65561748683	1.0	0.756372332573	-10.97	0.622	0.699	None	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	I	None
31755	48	W/C	rs755654150	0.2244	gnomAD-4.0.0	65	None	0.9981	0.9971	35.0	D	-1.199	0.44	0.309834	-1.203	0.5524	0.4173	0.580146131267	4.005	1.0	0.688	0.65561748683	1.0	0.756372332573	-10.97	0.622	0.699	None	None	None	1.59124E-06	0	0	0	0	None	0	0	1.59124E-06	2.85822E-06	0	0	None	I	None
31757	50	I/T	rs72648259	0.5589	gnomAD-2.1.1	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	3.89211E-04	1.23987E-04	3.11297E-04	3.86997E-04	0	None	3.92131E-04	None	3.89211E-04	0	5.62755E-04	9.82043E-04	None	I	None
31757	50	I/T	rs72648259	0.5589	gnomAD-3.1.2	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	4.86311E-04	2.17171E-04	5.23903E-04	0	0	None	0	0	4.86311E-04	7.49625E-04	4.13736E-04	1.91388E-03	None	I	None
31757	50	I/T	rs72648259	0.5589	1000 genomes	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	3.99361E-04	0	1.4E-03	None	0	1E-03	None	None	3.99361E-04	None	0	None	None	I	None
31757	50	I/T	rs72648259	0.5589	gnomAD-4.0.0	67	None	0.1476	0.1335	None	N	-0.661	None	None	-1.197	None	None	None	None	None	None	None	0.998	None	None	0.421	0.651	None	None	None	5.37846E-04	1.5994E-04	4.16639E-04	4.05433E-04	0	None	0	4.94886E-04	5.37846E-04	6.18747E-04	5.05006E-04	6.40225E-04	None	I	None
31757	50	I/V	None	0.5589	gnomAD-4.0.0	67	None	0.0802	0.0762	27.9	N	None	0.51	0.017627	-0.832	0.1185	-0.7658	0.21331176577	-0.255	0.99991	0.436	0.597732455086	0.889	0.505946338177	-0.57	0.135	0.361	0.283	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31758	51	V/D	None	0.2159	gnomAD-4.0.0	68	None	0.894	0.9024	34.0	D	None	0.36	0.05198	-1.533	0.4984	0.323	0.570767969123	3.51	1.0	0.684	0.864996732094	0.999	0.569831907749	-4.93	0.496	0.805	0.001	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31759	52	E/A	rs767475236	0.1990	gnomAD-2.1.1	69	None	0.1371	0.1446	34.0	N	-0.527	0.41	0.046147	-0.585	0.1087	-0.7842	0.278250640249	-0.315	0.999986	0.52	0.329540904979	0.822	0.591227412224	-4.23	0.407	0.585	0.222	None	None	4.02E-06	0	0	0	5.58E-05	None	0	None	4.02E-06	0	0	0	None	I	None
31759	52	E/A	rs767475236	0.1990	gnomAD-4.0.0	69	None	0.1371	0.1446	34.0	N	-0.527	0.41	0.046147	-0.585	0.1087	-0.7842	0.278250640249	-0.315	0.999986	0.52	0.329540904979	0.822	0.591227412224	-4.23	0.407	0.585	0.222	None	None	1.59121E-06	0	0	0	2.77331E-05	None	0	0	1.59121E-06	0	0	0	None	I	None
31761	54	E/K	rs727505342	0.6762	gnomAD-2.1.1	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	1.21E-05	0	0	0	0	None	3.27E-05	None	1.21E-05	0	1.78E-05	0	None	I	None
31761	54	E/K	rs727505342	0.6762	gnomAD-3.1.2	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	1.97E-05	4.83E-05	0	0	0	None	0	0	1.97E-05	1.47E-05	0	0	None	I	None
31761	54	E/K	rs727505342	0.6762	gnomAD-4.0.0	75	None	0.1272	0.1171	32.0	N	-0.117	0.47	0.063134	-0.186	0.2584	-0.5824	0.489131336793	0.58	1.0	0.632	0.332646915603	1.0	0.641759991646	-2.87	0.411	0.574	0.014	None	None	9.29459E-06	2.66539E-05	1.6665E-05	0	0	None	0	1.64962E-04	9.29459E-06	7.62842E-06	2.19578E-05	0	None	I	None
31763	56	P/L	None	0.6459	gnomAD-4.0.0	83	None	0.0836	0.0887	28.1	N	None	0.35	0.014109	-0.303	0.1025	-0.9896	0.0853964992584	0.905	0.990678	0.489	0.396494342077	None	0.448989510536	-2.91	0.084	0.181	0.317	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	2.625E-06	0	0	None	N	None
31763	56	P/S	None	0.6459	gnomAD-4.0.0	83	None	0.0826	0.0814	32.0	N	None	0.51	0.039526	-0.638	0.0978	-0.9186	0.0926084460139	-0.175	0.775348	0.48	0.144782658237	0.012	0.384919255972	-2.92	0.184	0.271	0.49	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31764	57	T/N	rs1357116939	0.4408	gnomAD-4.0.0	88	None	0.1058	0.1049	34.0	N	None	0.19	0.032777	-0.634	0.3464	-0.4055	0.435477278085	0.9	0.999936	0.593	0.370789594751	0.997	0.612722873688	-3.27	0.361	0.497	0.121	None	None	1.20032E-06	0	0	0	2.75482E-04	None	0	0	1.20032E-06	0	0	0	None	N	None
31764	57	T/S	rs1175551497	0.4408	gnomAD-2.1.1	88	None	0.0846	0.0828	29.4	N	-0.764	0.26	0.054713	-0.97	0.166	-0.784	0.148518372193	0.095	0.999321	0.556	0.158396225186	0.775	0.553517818451	-2.42	0.18	0.273	0.219	None	None	4.02E-06	0	0	0	5.57E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31764	57	T/S	rs1175551497	0.4408	gnomAD-4.0.0	88	None	0.0846	0.0828	29.4	N	-0.764	0.26	0.054713	-0.97	0.166	-0.784	0.148518372193	0.095	0.999321	0.556	0.158396225186	0.775	0.553517818451	-2.42	0.18	0.273	0.219	None	None	1.36838E-06	0	0	0	5.03931E-05	None	0	0	1.36838E-06	0	0	0	None	N	None
31766	59	S/F	rs191484894	0.3119	gnomAD-2.1.1	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	3.38793E-03	2.0656E-04	7.63877E-04	1.06465E-03	1.02554E-04	None	2.16979E-02	None	3.38793E-03	4E-05	1.70344E-03	2.94695E-03	None	N	None
31766	59	S/F	rs191484894	0.3119	gnomAD-3.1.2	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	1.77438E-03	2.41266E-04	1.83414E-03	8.64055E-04	0	None	0	0	1.77438E-03	1.66093E-03	2.3198E-02	1.91388E-03	None	N	None
31766	59	S/F	rs191484894	0.3119	1000 genomes	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	5.99042E-03	0	1.4E-03	None	0	2E-03	None	None	5.99042E-03	None	2.76E-02	None	None	N	None
31766	59	S/F	rs191484894	0.3119	gnomAD-4.0.0	90	None	0.3409	0.3462	None	N	-0.632	None	None	-0.708	None	None	None	None	None	None	None	1.0	None	None	0.466	0.863	None	None	None	2.17057E-03	3.19838E-04	9.83301E-04	8.44538E-04	1.56048E-04	None	6.24785E-05	4.12405E-03	2.17057E-03	1.05695E-03	2.11787E-02	2.92903E-03	None	N	None
31767	60	Y/C	rs1431446089	0.2411	gnomAD-2.1.1	91	None	0.0456	0.0545	29.1	N	-1.294	0.21	0.028868	-1.257	0.0967	-1.0012	0.105087784206	-0.19	0.879862	0.765	0.345859378078	None	0.288083076477	-2.25	0.233	0.396	0.267	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.89E-06	0	None	I	None
31767	60	Y/C	rs1431446089	0.2411	gnomAD-4.0.0	91	None	0.0456	0.0545	29.1	N	-1.294	0.21	0.028868	-1.257	0.0967	-1.0012	0.105087784206	-0.19	0.879862	0.765	0.345859378078	None	0.288083076477	-2.25	0.233	0.396	0.267	None	None	4.77354E-06	0	0	0	0	None	0	0	4.77354E-06	8.57456E-06	0	0	None	I	None
31768	61	V/F	None	0.4206	gnomAD-4.0.0	92	None	0.3297	0.3609	31.0	N	None	0.34	0.049762	-0.751	0.3166	-0.2603	0.490862917705	2.06	0.871656	0.567	0.745290931308	0.995	0.568578720093	-3.78	0.321	0.687	0.034	None	None	1.36839E-06	0	0	0	0	None	0	0	1.36839E-06	1.79892E-06	0	0	None	N	None
31768	61	V/L	rs1696890603	0.4206	gnomAD-4.0.0	92	None	0.3038	0.3373	25.7	N	None	0.41	0.070535	-0.371	0.1669	-0.6728	0.193643975851	1.255	0.607744	0.543	0.330331372229	0.78	0.587210297585	-2.23	0.19	0.522	0.168	None	None	1.36839E-06	0	0	0	0	None	0	0	1.36839E-06	1.79892E-06	0	0	None	N	None
31769	62	V/F	None	0.1207	gnomAD-4.0.0	93	None	0.5945	0.6224	26.0	N	None	0.2	0.040893	-0.944	0.4813	0.1176	0.509736370805	2.835	0.951108	0.696	0.811294113689	0.998	0.572769999504	-3.57	0.438	0.814	0.003	None	None	6.84196E-07	0	0	0	0	None	0	0	6.84196E-07	8.9946E-07	0	0	None	N	None
31769	62	V/I	rs374445709	0.1207	gnomAD-2.1.1	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	4.64E-05	4.13E-05	2.83E-05	0	2.05065E-04	None	9.8E-05	None	4.64E-05	0	3.13E-05	0	None	N	None
31769	62	V/I	rs374445709	0.1207	gnomAD-3.1.2	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	5.26E-05	9.65E-05	6.55E-05	0	1.93125E-04	None	0	0	5.26E-05	2.94E-05	0	0	None	N	None
31769	62	V/I	rs374445709	0.1207	gnomAD-4.0.0	93	None	0.0903	0.0905	None	N	-0.089	None	None	-0.105	None	None	None	None	None	None	None	0.982	None	None	0.212	0.609	None	None	None	1.73513E-05	6.67468E-05	1.66717E-05	0	8.91544E-05	None	0	0	1.73513E-05	1.27141E-05	2.19578E-05	1.60113E-05	None	N	None
31770	63	T/N	rs1250046145	0.4522	gnomAD-2.1.1	94	None	0.1156	0.1291	27.5	D	-0.944	0.31	0.024867	-0.465	0.352	-0.1731	0.435477278085	1.455	0.92462	0.6	0.40032279838	0.997	0.641125798225	-3.23	0.326	0.605	0.013	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	N	None
31770	63	T/N	rs1250046145	0.4522	gnomAD-4.0.0	94	None	0.1156	0.1291	27.5	D	-0.944	0.31	0.024867	-0.465	0.352	-0.1731	0.435477278085	1.455	0.92462	0.6	0.40032279838	0.997	0.641125798225	-3.23	0.326	0.605	0.013	None	None	3.18231E-06	0	2.28655E-05	0	0	None	0	0	3.18231E-06	0	0	3.02407E-05	None	N	None
31771	64	R/K	rs397517760	0.8588	gnomAD-2.1.1	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	8.04E-06	1.29132E-04	0	0	0	None	0	None	8.04E-06	0	0	0	None	I	None
31771	64	R/K	rs397517760	0.8588	gnomAD-3.1.2	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	1.97E-05	7.24E-05	0	0	0	None	0	0	1.97E-05	0	0	0	None	I	None
31771	64	R/K	rs397517760	0.8588	gnomAD-4.0.0	96	None	0.1118	0.1278	24.5	N	0.052	0.51	0.055513	-0.228	0.076	-0.969	0.0857408686986	0.29	0.623894	0.599	0.124217242631	0.001	0.541529119015	-1.35	0.084	0.212	0.635	None	None	1.9714E-05	7.23729E-05	0	0	0	None	0	0	1.9714E-05	0	0	0	None	I	None
31774	67	K/E	rs762265902	0.4443	gnomAD-2.1.1	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	5.36E-05	4.13E-05	0	0	0	None	0	None	5.36E-05	0	1.09443E-04	0	None	N	None
31774	67	K/E	rs762265902	0.4443	gnomAD-3.1.2	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	7.23E-05	2.41E-05	0	0	1.9253E-04	None	0	0	7.23E-05	1.32295E-04	0	0	None	N	None
31774	67	K/E	rs762265902	0.4443	gnomAD-4.0.0	99	None	0.1923	0.1776	None	N	0.029	None	None	-0.084	None	None	None	None	None	None	None	0.999	None	None	0.402	0.675	None	None	None	1.07814E-04	3.99765E-05	0	3.37838E-05	2.22846E-05	None	0	0	1.07814E-04	1.40703E-04	0	4.80169E-05	None	N	None
31776	69	N/S	rs1696881072	0.2950	gnomAD-4.0.0	102	None	0.2069	0.203	35.0	N	None	0.53	0.026675	-1.077	0.2729	-0.538	0.418019226632	0.895	0.999984	0.521	0.163833314356	0.999	0.577157557011	-3.57	0.397	0.517	0.07	None	None	1.36838E-06	0	0	0	0	None	0	0	1.36838E-06	1.79893E-06	0	0	None	N	None
31777	70	E/A	rs955172279	0.2830	gnomAD-3.1.2	103	None	0.5821	0.6161	35.0	N	None	0.32	0.063676	-0.963	0.4394	-0.0316	0.476869963243	2.39	1.0	0.627	0.476754456241	0.999	0.659404635429	-5.0	0.58	0.704	0.009	None	None	1.97E-05	0	0	2.88018E-04	0	None	0	0	1.97E-05	2.94E-05	0	0	None	N	None
31777	70	E/A	rs955172279	0.2830	gnomAD-4.0.0	103	None	0.5821	0.6161	35.0	N	None	0.32	0.063676	-0.963	0.4394	-0.0316	0.476869963243	2.39	1.0	0.627	0.476754456241	0.999	0.659404635429	-5.0	0.58	0.704	0.009	None	None	7.68565E-06	0	0	4.08965E-05	0	None	0	0	7.68565E-06	9.57153E-06	1.33998E-05	0	None	N	None
31777	70	E/D	None	0.2830	gnomAD-4.0.0	103	None	0.7207	0.743	24.9	N	None	0.34	0.032649	-1.103	0.3222	-0.4718	0.442122350618	2.01	0.998204	0.582	0.212008924253	0.999	0.660281121731	-2.6	0.437	0.467	0.127	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.3125E-06	0	0	None	N	None
31777	70	E/K	rs1203504106	0.2830	gnomAD-2.1.1	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	0	1.65618E-04	None	N	None
31777	70	E/K	rs1203504106	0.2830	gnomAD-3.1.2	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	6.57E-06	0	6.55E-05	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31777	70	E/K	rs1203504106	0.2830	gnomAD-4.0.0	103	None	0.6443	0.6402	35.0	N	-0.786	0.4	0.055069	-0.662	0.3961	-0.2344	0.489131336793	2.055	1.0	0.625	0.436132833422	0.999	0.727969884872	-2.8	0.373	0.595	0.01	None	None	1.85901E-06	0	1.66689E-05	0	0	None	0	0	1.85901E-06	8.47606E-07	0	1.60113E-05	None	N	None
31778	71	Y/H	rs540043466	0.0941	gnomAD-4.0.0	104	None	0.9943	0.9946	35.0	D	None	-2.5	0.65179	-2.266	0.9198	1.0975	0.52537510995	4.06	1.0	0.859	0.78946127699	1.0	0.776722669601	-4.5	0.872	0.833	None	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31778	71	Y/N	rs540043466	0.0941	gnomAD-3.1.2	104	None	0.9725	0.97	35.0	D	None	-2.49	0.687111	-3.04	0.9198	1.0975	0.590220216331	4.41	1.0	0.858	0.923049238605	1.0	0.771500945091	-8.1	0.907	0.884	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31778	71	Y/N	rs540043466	0.0941	gnomAD-4.0.0	104	None	0.9725	0.97	35.0	D	None	-2.49	0.687111	-3.04	0.9198	1.0975	0.590220216331	4.41	1.0	0.858	0.923049238605	1.0	0.771500945091	-8.1	0.907	0.884	None	None	None	6.57324E-06	2.41336E-05	0	0	0	None	0	0	6.57324E-06	0	0	0	None	N	None
31779	72	I/T	rs1460359915	0.1620	gnomAD-2.1.1	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	1.07E-05	0	0	0	5.12E-05	None	0	None	1.07E-05	0	1.56E-05	0	None	N	None
31779	72	I/T	rs1460359915	0.1620	gnomAD-3.1.2	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	2.63E-05	2.41E-05	0	0	0	None	0	0	2.63E-05	4.41E-05	0	0	None	N	None
31779	72	I/T	rs1460359915	0.1620	gnomAD-4.0.0	105	None	0.1934	0.2061	27.8	N	-2.535	0.6	0.035689	-2.499	0.115	-0.9204	0.106872434951	0.95	0.717802	0.419	0.626236102369	0.001	0.348646640778	-1.08	0.118	0.54	0.349	None	None	1.4872E-05	1.33461E-05	0	0	0	None	0	0	1.4872E-05	1.6952E-05	0	4.80338E-05	None	N	None
31779	72	I/V	rs886039071	0.1620	gnomAD-3.1.2	105	None	0.068	0.0673	26.2	N	None	0.51	0.011351	-1.585	0.1231	-0.9295	0.0710446202875	0.4	0.854849	0.438	0.363751660372	None	0.276381254196	-0.08	0.071	0.211	0.462	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31779	72	I/V	rs886039071	0.1620	gnomAD-4.0.0	105	None	0.068	0.0673	26.2	N	None	0.51	0.011351	-1.585	0.1231	-0.9295	0.0710446202875	0.4	0.854849	0.438	0.363751660372	None	0.276381254196	-0.08	0.071	0.211	0.462	None	None	6.57091E-06	0	0	0	0	None	0	0	6.57091E-06	1.47003E-05	0	0	None	N	None
31780	73	F/C	rs1696875038	0.1162	gnomAD-3.1.2	106	None	0.9493	0.9327	35.0	D	None	0.06	0.584292	-1.19	0.669	0.7504	0.553271594919	4.02	1.0	0.706	0.877205771031	1.0	0.69451636076	-7.2	0.717	0.845	0.001	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	None
31780	73	F/C	rs1696875038	0.1162	gnomAD-4.0.0	106	None	0.9493	0.9327	35.0	D	None	0.06	0.584292	-1.19	0.669	0.7504	0.553271594919	4.02	1.0	0.706	0.877205771031	1.0	0.69451636076	-7.2	0.717	0.845	0.001	None	None	6.57073E-06	0	0	0	0	None	0	0	6.57073E-06	1.46998E-05	0	0	None	N	None
31781	74	R/L	rs748984928	0.0972	gnomAD-2.1.1	107	None	0.9188	0.9301	35.0	D	-1.236	0.15	0.313893	-1.036	0.5468	0.2927	0.516030974754	3.03	1.0	0.708	0.765735979443	1.0	0.635109961033	-6.3	0.727	0.737	0.004	None	None	8.04E-06	0	5.8E-05	0	0	None	0	None	8.04E-06	0	0	0	None	I	None
31781	74	R/L	rs748984928	0.0972	gnomAD-4.0.0	107	None	0.9188	0.9301	35.0	D	-1.236	0.15	0.313893	-1.036	0.5468	0.2927	0.516030974754	3.03	1.0	0.708	0.765735979443	1.0	0.635109961033	-6.3	0.727	0.737	0.004	None	None	1.3684E-06	0	4.47227E-05	0	0	None	0	0	1.3684E-06	0	0	0	None	I	None
31781	74	R/P	rs748984928	0.0972	gnomAD-3.1.2	107	None	0.9992	0.9995	None	D	None	None	None	-1.322	None	None	None	None	None	None	None	1.0	None	None	0.694	0.819	None	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	I	None
31781	74	R/P	rs748984928	0.0972	gnomAD-4.0.0	107	None	0.9992	0.9995	None	D	None	None	None	-1.322	None	None	None	None	None	None	None	1.0	None	None	0.694	0.819	None	None	None	6.57134E-06	2.41313E-05	0	0	0	None	0	0	6.57134E-06	0	0	0	None	I	None
31781	74	R/Q	None	0.0972	gnomAD-2.1.1	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	1.61E-05	6.46E-05	5.8E-05	0	5.57E-05	None	0	None	1.61E-05	0	0	0	None	I	None
31781	74	R/Q	None	0.0972	gnomAD-3.1.2	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	3.29E-05	7.24E-05	0	0	0	None	0	0	3.29E-05	1.47E-05	2.06954E-04	0	None	I	None
31781	74	R/Q	None	0.0972	gnomAD-4.0.0	107	None	0.4266	0.4907	35.0	N	-1.259	0.24	0.082874	-1.194	0.4943	0.0764	0.496624975885	3.07	0.999999	0.719	0.435915822735	1.0	0.555395901203	-3.6	0.562	0.787	0.005	None	None	1.36329E-05	8.00983E-05	3.33411E-05	0	2.22826E-05	None	0	0	1.36329E-05	9.32361E-06	1.09784E-05	1.60108E-05	None	I	None
31782	75	V/L	rs377076423	0.0965	gnomAD-2.1.1	108	None	0.5354	0.513	24.1	D	-1.282	-0.64	0.064274	-1.05	0.4332	-0.1794	0.0908555217513	2.69	0.999964	0.811	0.647671066071	0.117	0.660209536552	-2.7	0.545	0.303	0.009	None	None	8.04E-06	0	0	0	1.11396E-04	None	0	None	8.04E-06	0	0	0	None	N	None
31782	75	V/L	rs377076423	0.0965	gnomAD-4.0.0	108	None	0.5354	0.513	24.1	D	-1.282	-0.64	0.064274	-1.05	0.4332	-0.1794	0.0908555217513	2.69	0.999964	0.811	0.647671066071	0.117	0.660209536552	-2.7	0.545	0.303	0.009	None	None	2.05259E-06	0	0	0	5.03905E-05	None	0	0	2.05259E-06	8.99475E-07	0	0	None	N	None
31782	75	V/M	rs377076423	0.0965	gnomAD-2.1.1	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	1.07E-05	1.23967E-04	0	0	0	None	0	None	1.07E-05	0	0	0	None	N	None
31782	75	V/M	rs377076423	0.0965	gnomAD-3.1.2	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	1.97E-05	7.24E-05	0	0	0	None	0	0	1.97E-05	0	0	0	None	N	None
31782	75	V/M	rs377076423	0.0965	gnomAD-4.0.0	108	None	0.676	0.6249	None	D	-1.749	None	None	-1.223	None	None	None	None	None	None	None	0.993	None	None	0.669	0.723	None	None	None	3.09833E-06	6.67361E-05	0	0	0	None	0	0	3.09833E-06	0	0	0	None	N	None
31783	76	R/T	rs1696869417	0.2225	gnomAD-3.1.2	109	None	0.3845	0.3969	25.0	N	None	0.4	0.049413	-1.305	0.1601	-0.83	0.317368450248	1.32	0.999987	0.649	0.311387274539	0.638	0.553548455238	-4.83	0.348	0.667	0.163	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31783	76	R/T	rs1696869417	0.2225	gnomAD-4.0.0	109	None	0.3845	0.3969	25.0	N	None	0.4	0.049413	-1.305	0.1601	-0.83	0.317368450248	1.32	0.999987	0.649	0.311387274539	0.638	0.553548455238	-4.83	0.348	0.667	0.163	None	None	2.02984E-06	1.74709E-05	0	0	0	None	0	0	2.02984E-06	1.2049E-06	0	0	None	N	None
31784	77	A/T	None	0.1028	gnomAD-4.0.0	110	None	0.8176	0.8058	34.0	D	None	-1.02	0.168175	-1.913	0.7437	0.7353	0.377117936334	3.47	0.999946	0.818	0.676012115908	0.946	0.605536878109	-3.2	0.789	0.702	0.005	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31784	77	A/V	rs1553520967	0.1028	http://www.ncbi.nlm.nih.gov/pubmed/30666435;	110	HMERF;	0.874	0.8651	35.0	D	None	-0.99	0.1368	-0.853	0.6984	0.6785	0.382416266666	3.815	0.997895	0.815	0.663723012633	0.946	0.630804181099	-3.4	0.69	0.68	0.005	het	Genetic analysis of genes in 12 HMERF families; co-segregates with condition (n = 6, 6 affected (8 total))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31785	78	V/I	rs755742174	0.1051	gnomAD-2.1.1	111	None	0.1195	0.11	24.1	N	-0.744	0.09	0.044566	-0.732	0.2295	-0.5866	0.10609617995	1.265	0.999991	0.467	0.53906709209	0.767	0.484132349491	-0.83	0.187	0.322	0.113	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31785	78	V/I	rs755742174	0.1051	gnomAD-4.0.0	111	None	0.1195	0.11	24.1	N	-0.744	0.09	0.044566	-0.732	0.2295	-0.5866	0.10609617995	1.265	0.999991	0.467	0.53906709209	0.767	0.484132349491	-0.83	0.187	0.322	0.113	None	None	8.21039E-06	0	0	0	0	None	0	0	8.21039E-06	8.99473E-06	1.15931E-05	1.65662E-05	None	N	None
31786	79	N/K	rs869320743	0.1035	http://www.ncbi.nlm.nih.gov/pubmed/23486992; http://www.ncbi.nlm.nih.gov/pubmed/30666435;	112	HMERF;	0.9985	0.9984	31.0	D	-0.663	0.15	0.525558	-0.285	0.5354	0.2801	0.496214373149	4.38	0.99998	0.832	0.32471235697	1.0	0.742648363113	-5.4	0.842	0.737	None	het	Genetic analysis of genes in 127 undiagnosed patients, likely MFM; co-segregates with condition (n = 2, 2 affected (total 7))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31786	79	N/K	rs869320743	0.1035	gnomAD-4.0.0	112	None	0.9985	0.9984	31.0	D	-0.663	0.15	0.525558	-0.285	0.5354	0.2801	0.496214373149	4.38	0.99998	0.832	0.32471235697	1.0	0.742648363113	-5.4	0.842	0.737	None	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.3125E-06	0	0	None	N	None
31786	79	N/S	rs1696865626	0.1035	gnomAD-4.0.0	112	None	0.7233	0.687	33.0	N	None	0.26	0.039837	-1.211	0.5023	0.2207	0.418019226632	3.025	0.999999	0.746	0.317958651998	0.999	0.637088537216	-4.5	0.623	0.58	None	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31787	80	K/N	rs1225133278	0.4802	gnomAD-2.1.1	113	None	0.7108	0.6861	28.8	N	0.173	0.42	0.043593	0.078	0.3029	-0.5369	0.500188843923	2.125	0.999708	0.483	0.232513804876	1.0	0.735992968082	-3.67	0.323	0.671	0.006	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	I	None
31787	80	K/N	rs1225133278	0.4802	gnomAD-4.0.0	113	None	0.7108	0.6861	28.8	N	0.173	0.42	0.043593	0.078	0.3029	-0.5369	0.500188843923	2.125	0.999708	0.483	0.232513804876	1.0	0.735992968082	-3.67	0.323	0.671	0.006	None	None	2.0526E-06	0	2.23604E-05	0	0	None	0	0	2.0526E-06	1.79895E-06	0	0	None	I	None
31787	80	K/T	None	0.4802	gnomAD-4.0.0	113	None	0.3401	0.3318	35.0	N	None	0.45	0.067981	-0.218	0.3639	-0.2572	0.504634987189	2.015	1.0	0.48	0.364926071151	1.0	0.722498059273	-4.43	0.553	0.621	0.006	None	None	1.3684E-06	0	0	0	0	None	0	0	1.3684E-06	1.79895E-06	0	0	None	I	None
31788	81	Y/C	rs397517761	0.6574	gnomAD-4.0.0	114	None	0.6137	0.6373	35.0	N	None	0.42	0.049131	0.06	0.3324	-0.3681	0.505690747866	1.33	0.999998	0.54	0.425028116352	1.0	0.790256500244	-7.2	0.42	0.756	0.001	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	I	None
31788	81	Y/H	rs1696861248	0.6574	gnomAD-3.1.2	114	None	0.6351	0.5957	35.0	N	None	0.47	0.028808	0.193	0.3295	-0.3744	0.509770243166	1.09	0.999997	0.468	0.331365685468	0.999	0.790243148804	-3.8	0.457	0.625	None	None	None	1.31E-05	2.41E-05	0	0	0	None	0	0	1.31E-05	1.47E-05	0	0	None	I	None
31788	81	Y/H	rs1696861248	0.6574	gnomAD-4.0.0	114	None	0.6351	0.5957	35.0	N	None	0.47	0.028808	0.193	0.3295	-0.3744	0.509770243166	1.09	0.999997	0.468	0.331365685468	0.999	0.790243148804	-3.8	0.457	0.625	None	None	None	1.31428E-05	2.41231E-05	0	0	0	None	0	0	1.31428E-05	1.47003E-05	0	0	None	I	None
31789	82	G/D	None	0.2506	gnomAD-4.0.0	115	None	0.9678	0.968	33.0	D	None	-0.32	0.592459	-0.875	0.7113	0.7539	0.527275360279	4.415	1.0	0.89	0.635084727198	1.0	0.839864015579	-6.0	0.851	0.893	None	None	None	4.77377E-06	0	0	0	0	None	0	0	4.77377E-06	5.71687E-06	0	3.02425E-05	None	N	None
31789	82	G/R	rs1450258389	0.2506	gnomAD-2.1.1	115	None	0.9364	0.9344	34.0	D	-0.375	-0.35	0.607348	-0.623	0.7113	0.7539	0.506463245118	4.065	1.0	0.897	0.814767087539	1.0	0.83599114418	-6.93	0.835	0.896	None	None	None	4.02E-06	0	0	0	5.57E-05	None	0	None	4.02E-06	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5852	gnomAD-2.1.1	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	3.18E-05	1.14811E-04	0	0	0	None	0	None	3.18E-05	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5852	gnomAD-3.1.2	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	None
31790	83	P/S	rs1235693684	0.5852	gnomAD-4.0.0	117	None	0.1408	0.1185	27.9	N	-0.845	0.64	0.155213	-0.985	0.1902	-0.8043	0.313104685664	1.03	0.999996	0.324	0.27132560031	0.781	0.501752257347	-3.68	0.224	0.697	0.229	None	None	2.56222E-06	1.69165E-05	0	0	0	None	0	0	2.56222E-06	2.39311E-06	0	0	None	N	None
31791	84	G/D	rs869320744	0.1474	http://www.ncbi.nlm.nih.gov/pubmed/23514108; http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.984	0.9869	33.0	D	-1.821	-0.04	0.77622	-1.545	0.6711	0.687	0.527275360279	3.775	1.0	0.762	0.495038369364	1.0	0.733057260513	-5.37	0.944	0.875	0.003	het	WES prioritisation of single US family + 45 unrelated probands; Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31791	84	G/R	rs1696856005	0.1474	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.9924	0.9928	31.0	D	-1.008	-0.05	0.796429	-0.934	0.6711	0.687	0.506463245118	4.125	1.0	0.764	0.703283205912	1.0	0.730574846268	-6.23	0.954	0.916	0.001	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31791	84	G/V	None	0.1474	http://www.ncbi.nlm.nih.gov/pubmed/25253871;	118	MFM; HMERF;	0.9787	0.9832	33.0	D	-0.713	-0.06	0.814048	-0.698	0.6711	0.687	0.518063289252	4.125	1.0	0.71	0.684650895497	1.0	0.655536830425	-7.07	0.916	0.903	0.002	het	Genetic analysis of Fn3-119 in 187 MFM patients to assess diagnostic value of sub-sarcolemmal necklace alignments of cytoplasmic bodies for HMERF	None	None	None	None	None	None	None	None	None	None	None	None	None	N	None
31792	85	V/A	None	0.4202	gnomAD-4.0.0	119	None	0.1381	0.1399	35.0	N	None	0.63	0.030857	-1.242	0.1801	-0.7676	0.379395075477	0.58	0.999999	0.362	0.516659694907	0.998	0.617439746857	-2.58	0.246	0.545	0.229	None	None	6.84225E-07	0	0	0	0	None	0	0	6.84225E-07	8.99496E-07	0	0	None	N	None
31792	85	V/G	rs767359045	0.4202	gnomAD-2.1.1	119	None	0.1794	0.1854	35.0	N	-1.386	0.57	0.061854	-1.459	0.3203	-0.4058	0.511671324212	1.605	1.0	0.425	0.735492212333	1.0	0.514628052711	-4.92	0.505	0.799	0.07	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.9E-06	0	None	N	None
31792	85	V/G	rs767359045	0.4202	gnomAD-4.0.0	119	None	0.1794	0.1854	35.0	N	-1.386	0.57	0.061854	-1.459	0.3203	-0.4058	0.511671324212	1.605	1.0	0.425	0.735492212333	1.0	0.514628052711	-4.92	0.505	0.799	0.07	None	None	1.36845E-06	0	0	0	0	None	0	0	1.36845E-06	1.79899E-06	0	0	None	N	None
31792	85	V/M	rs994348588	0.4202	gnomAD-2.1.1	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	8.05E-06	0	2.9E-05	0	0	None	0	None	8.05E-06	0	8.9E-06	0	None	N	None
31792	85	V/M	rs994348588	0.4202	gnomAD-3.1.2	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	1.31E-05	4.82E-05	0	0	0	None	0	0	1.31E-05	0	0	0	None	N	None
31792	85	V/M	rs994348588	0.4202	gnomAD-4.0.0	119	None	0.1133	0.1096	29.3	N	-0.49	0.56	0.057179	-0.524	0.3478	-0.3924	0.436120074318	1.495	0.999996	0.363	0.476598743245	0.999	0.627392292023	-2.17	0.176	0.737	0.028	None	None	5.57713E-06	5.33917E-05	1.66672E-05	0	0	None	0	0	5.57713E-06	3.39044E-06	0	0	None	N	None
31793	86	P/A	None	0.3099	gnomAD-4.0.0	120	None	0.0615	0.0667	29.6	N	None	0.5	0.051585	-1.404	0.3896	-0.1789	0.358767660476	1.76	0.998786	0.361	0.326074293725	0.996	0.647182404995	-6.23	0.404	0.563	0.138	None	None	1.36846E-06	0	0	0	0	None	0	0	1.36846E-06	1.799E-06	0	0	None	N	None
31793	86	P/L	rs1696849077	0.3099	gnomAD-4.0.0	120	None	0.2731	0.3041	35.0	D	None	0.52	0.076889	-0.808	0.4817	0.1975	0.390075350529	3.4	0.999999	0.512	0.617224619168	0.998	0.70672917366	-7.43	0.476	0.733	0.162	None	None	1.44039E-05	0	0	0	0	None	0	0	1.44039E-05	1.575E-05	0	0	None	N	None
31793	86	P/T	rs1466581888	0.3099	gnomAD-2.1.1	120	None	0.1696	0.2073	32.0	N	-1.591	0.45	0.048471	-1.289	0.4693	0.0912	0.460054079252	3.4	0.999217	0.353	0.411799315854	0.999	0.679494559765	-6.23	0.386	0.703	0.049	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	None
31793	86	P/T	rs1466581888	0.3099	gnomAD-4.0.0	120	None	0.1696	0.2073	32.0	N	-1.591	0.45	0.048471	-1.289	0.4693	0.0912	0.460054079252	3.4	0.999217	0.353	0.411799315854	0.999	0.679494559765	-6.23	0.386	0.703	0.049	None	None	3.42116E-06	0	0	0	0	None	0	0	3.42116E-06	0	5.79764E-05	0	None	N	None
31794	87	V/A	rs2154145428	0.2046	gnomAD-4.0.0	121	None	0.0808	0.0825	24.8	N	None	0.66	0.009166	-1.527	0.0629	-1.0388	0.100938685441	-0.045	0.563481	0.316	0.132336055621	None	0.274833500385	-2.88	0.129	0.252	0.315	None	None	3.18273E-06	0	0	0	5.546E-05	None	0	0	3.18273E-06	0	0	0	None	N	None
31794	87	V/L	rs1346238621	0.2046	gnomAD-2.1.1	121	None	0.0875	0.0862	22.7	N	-0.538	0.64	0.008844	-0.686	0.0321	-1.0691	0.0819424430668	-2.43	0.647279	0.361	0.115124310173	None	0.265345513821	-0.64	0.085	0.182	0.575	None	None	3.18E-05	0	0	0	0	None	0	None	3.18E-05	0	6.48E-05	0	None	N	None
31795	88	E/Q	None	0.2693	gnomAD-4.0.0	122	None	0.1906	0.2043	27.3	N	None	0.47	0.073865	-0.747	0.3346	-0.4389	0.459616259529	2.285	0.999994	0.214	0.240491677333	0.999	0.568341493607	-2.1	0.164	0.798	0.217	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31795	88	E/V	rs1441773765	0.2693	gnomAD-2.1.1	122	None	0.178	0.2044	35.0	N	0.449	0.4	0.044487	0.029	0.3542	-0.2938	0.498535268662	2.285	0.999996	0.434	0.590258251349	0.999	0.555458724499	-5.7	0.508	0.769	0.008	None	None	4.02E-06	0	2.9E-05	0	0	None	0	None	4.02E-06	0	0	0	None	N	None
31795	88	E/V	rs1441773765	0.2693	gnomAD-4.0.0	122	None	0.178	0.2044	35.0	N	0.449	0.4	0.044487	0.029	0.3542	-0.2938	0.498535268662	2.285	0.999996	0.434	0.590258251349	0.999	0.555458724499	-5.7	0.508	0.769	0.008	None	None	1.59138E-06	0	2.28645E-05	0	0	None	0	0	1.59138E-06	0	0	0	None	N	None
31797	90	E/K	rs1381214987	0.7048	gnomAD-4.0.0	125	None	0.1037	0.0935	22.5	N	None	0.2	0.038732	0.353	0.2668	-0.7305	0.0972544661453	2.295	0.991159	0.418	0.192905019026	0.1	0.409070819616	-2.26	0.137	0.546	0.185	None	None	6.84261E-07	0	0	0	0	None	0	0	6.84261E-07	8.99533E-07	0	0	None	N	None
31797	90	E/Q	rs1381214987	0.7048	gnomAD-2.1.1	125	None	0.103	0.1043	22.1	N	0.339	0.18	0.010968	0.05	0.2588	-0.7469	0.0828350699555	2.5	0.998091	0.273	0.124217242631	0.002	0.337676733732	-1.91	0.105	0.361	0.11	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.91E-06	0	None	N	None
31797	90	E/Q	rs1381214987	0.7048	gnomAD-4.0.0	125	None	0.103	0.1043	22.1	N	0.339	0.18	0.010968	0.05	0.2588	-0.7469	0.0828350699555	2.5	0.998091	0.273	0.124217242631	0.002	0.337676733732	-1.91	0.105	0.361	0.11	None	None	1.36852E-06	0	0	0	0	None	0	0	1.36852E-06	1.79907E-06	0	0	None	N	None
31797	90	E/V	rs1183343848	0.7048	gnomAD-2.1.1	125	None	0.1285	0.1315	25.2	N	0.393	0.2	0.057818	0.132	0.2541	-0.7309	0.112508237102	2.32	0.985031	0.433	0.482283251092	0.437	0.332622230053	-5.46	0.157	0.586	0.074	None	None	4.03E-06	0	2.9E-05	0	0	None	0	None	4.03E-06	0	0	0	None	N	None
31797	90	E/V	rs1183343848	0.7048	gnomAD-4.0.0	125	None	0.1285	0.1315	25.2	N	0.393	0.2	0.057818	0.132	0.2541	-0.7309	0.112508237102	2.32	0.985031	0.433	0.482283251092	0.437	0.332622230053	-5.46	0.157	0.586	0.074	None	None	4.7745E-06	0	2.28676E-05	0	0	None	0	0	4.7745E-06	2.85881E-06	0	3.0248E-05	None	N	None
31798	91	P/A	None	0.4239	gnomAD-4.0.0	126	None	0.0622	0.066	23.5	N	None	0.12	0.014404	-0.758	0.1465	-0.9032	0.0817590803949	1.04	0.997893	0.336	0.128392430309	0.002	0.460526943207	-7.2	0.159	0.308	0.014	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	None
31799	92	I/T	rs1696841409	0.2370	gnomAD-4.0.0	127	None	0.1395	0.1134	28.1	N	None	0.09	0.043374	-1.963	0.2334	-0.6993	0.120721004158	1.715	0.999777	0.423	0.613098244845	0.181	0.501574277878	-3.83	0.282	0.586	0.007	None	None	1.20032E-06	6.33473E-05	0	0	0	None	0	0	1.20032E-06	0	0	0	None	N	None
31799	92	I/V	rs370916420	0.2370	gnomAD-2.1.1	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	6.44E-05	0	0	0	0	None	3.27E-05	None	6.44E-05	0	1.33585E-04	0	None	N	None
31799	92	I/V	rs370916420	0.2370	gnomAD-3.1.2	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	4.6E-05	0	6.54E-05	0	0	None	0	3.16456E-03	4.6E-05	7.35E-05	0	0	None	N	None
31799	92	I/V	rs370916420	0.2370	gnomAD-4.0.0	127	None	0.0496	0.0489	None	N	-1.286	None	None	-1.129	None	None	None	None	None	None	None	None	None	None	0.06	0.144	None	None	None	6.01123E-05	0	1.66617E-05	0	0	None	0	1.65071E-04	6.01123E-05	7.46002E-05	1.09813E-05	9.60553E-05	None	N	None
31800	93	V/A	None	0.3202	gnomAD-4.0.0	129	None	0.2086	0.2014	32.0	N	None	0.07	0.030708	-1.115	0.201	-0.7464	0.104108345011	1.905	0.939321	0.295	0.465975295344	0.025	0.531350672245	-3.33	0.23	0.445	0.237	None	None	3.60097E-06	0	0	0	0	None	0	0	3.60097E-06	3.93751E-06	0	0	None	N	None
31800	93	V/I	rs766203953	0.3202	gnomAD-2.1.1	129	None	0.0603	0.0614	22.6	N	-0.398	0.14	0.02447	-0.536	0.1006	-0.9901	0.0684251949703	-0.14	0.765492	0.295	0.206339911435	None	0.39274841547	-0.39	0.099	0.058	0.478	None	None	4.03E-06	0	0	0	0	None	3.27E-05	None	4.03E-06	0	0	0	None	N	None
31800	93	V/I	rs766203953	0.3202	gnomAD-4.0.0	129	None	0.0603	0.0614	22.6	N	-0.398	0.14	0.02447	-0.536	0.1006	-0.9901	0.0684251949703	-0.14	0.765492	0.295	0.206339911435	None	0.39274841547	-0.39	0.099	0.058	0.478	None	None	3.184E-06	0	0	0	0	None	0	0	3.184E-06	0	2.86664E-05	0	None	N	None
31803	96	N/T	rs2154145420	0.7600	gnomAD-3.1.2	132	None	0.4565	0.439	34.0	N	None	0.36	0.045682	0.054	0.2578	-0.5106	0.462432038134	2.245	1.0	0.231	0.349429436713	0.997	0.685251712799	-4.6	0.336	0.711	0.019	None	None	6.57E-06	0	0	0	0	None	0	3.16456E-03	6.57E-06	0	0	0	None	N	None

Whole Population MAF	African (AFR)	Latin American (AMR)
Amish (AMS)	Ashkenazi Jewish (ASJ)	East Asian (EAS)
European/1KGP (EUR)	Finnish (FIN)	Middle Eastern (MDE)
Non-Finnish European (NFE)	South Asian (SAS)	Other (OTH)

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