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Pin SAV |
Position |
Domain position |
SAV |
Structural Position |
RS |
Q(SASA) |
Disease |
Source |
MAF |
---|---|---|---|---|---|---|---|---|---|
104 | 1 | P/S | 1 | rs752692701 | 0.1259 | None | gnomAD-2.1.1 | 8.09E-06 | |
104 | 1 | P/S | 1 | rs752692701 | 0.1259 | None | gnomAD-4.0.0 | 8.013E-06 | |
105 | 2 | N/H | 2 | rs780972429 | 0.3470 | None | gnomAD-2.1.1 | 1.21E-05 | |
105 | 2 | N/H | 2 | rs780972429 | 0.3470 | None | gnomAD-4.0.0 | 2.74527E-06 | |
105 | 2 | N/K | 2 | None | 0.3470 | None | gnomAD-4.0.0 | 6.86165E-07 | |
107 | 4 | V/F | 4 | None | 0.3859 | None | gnomAD-4.0.0 | 6.86168E-07 | |
107 | 4 | V/I | 4 | rs755127321 | 0.3859 | None | gnomAD-2.1.1 | 1.62E-05 | |
107 | 4 | V/I | 4 | rs755127321 | 0.3859 | None | gnomAD-4.0.0 | 4.11701E-06 | |
108 | 5 | Q/E | 5 | None | 0.3497 | None | gnomAD-4.0.0 | 1.60107E-06 | |
108 | 5 | Q/K | 5 | rs1428387902 | 0.3497 | None | gnomAD-3.1.2 | 6.57E-06 | |
108 | 5 | Q/K | 5 | rs1428387902 | 0.3497 | None | gnomAD-4.0.0 | 6.5716E-06 | |
108 | 5 | Q/R | 5 | None | 0.3497 | None | gnomAD-4.0.0 | 1.20032E-06 | |
109 | 6 | R/Q | 7 | rs766434493 | 0.2352 | None | gnomAD-2.1.1 | 1.21E-05 | |
109 | 6 | R/Q | 7 | rs766434493 | 0.2352 | None | gnomAD-3.1.2 | 1.31E-05 | |
109 | 6 | R/Q | 7 | rs766434493 | 0.2352 | None | gnomAD-4.0.0 | 8.07592E-06 | |
111 | 8 | Q/R | 9 | None | 0.4324 | None | gnomAD-4.0.0 | 6.85677E-07 | |
112 | 9 | S/C | 11 | None | 0.1989 | None | gnomAD-3.1.2 | 6.57E-06 | |
112 | 9 | S/C | 11 | None | 0.1989 | None | gnomAD-4.0.0 | 2.57113E-06 | |
112 | 9 | S/N | 11 | None | 0.1989 | None | gnomAD-4.0.0 | 6.8547E-07 | |
113 | 10 | M/I | 13 | None | 0.3272 | None | gnomAD-4.0.0 | 1.59693E-06 | |
113 | 10 | M/T | 13 | rs2094010012 | 0.3272 | None | gnomAD-4.0.0 | 3.60097E-06 | |
113 | 10 | M/V | 13 | rs1060500430 | 0.3272 | None | gnomAD-2.1.1 | 4.02E-06 | |
113 | 10 | M/V | 13 | rs1060500430 | 0.3272 | None | gnomAD-4.0.0 | 3.19452E-06 | |
114 | 11 | T/I | 14 | rs750606005 | 0.4706 | None | gnomAD-3.1.2 | 6.57E-06 | |
114 | 11 | T/I | 14 | rs750606005 | 0.4706 | None | gnomAD-4.0.0 | 6.57073E-06 | |
114 | 11 | T/N | 14 | rs750606005 | 0.4706 | None | gnomAD-2.1.1 | 1.07E-05 | |
114 | 11 | T/N | 14 | rs750606005 | 0.4706 | None | gnomAD-3.1.2 | 6.57E-06 | |
114 | 11 | T/N | 14 | rs750606005 | 0.4706 | None | gnomAD-4.0.0 | 2.56822E-06 | |
115 | 12 | V/M | 16 | rs564777385 | 0.2766 | None | gnomAD-2.1.1 | 3.57E-05 | |
115 | 12 | V/M | 16 | rs564777385 | 0.2766 | None | gnomAD-3.1.2 | 3.29E-05 | |
115 | 12 | V/M | 16 | rs564777385 | 0.2766 | None | 1000 genomes | 3.99361E-04 | |
115 | 12 | V/M | 16 | rs564777385 | 0.2766 | None | gnomAD-4.0.0 | 1.36526E-05 | |
116 | 13 | R/T | 18 | rs569775318 | 0.7219 | None | gnomAD-2.1.1 | 4.01E-06 | |
116 | 13 | R/T | 18 | rs569775318 | 0.7219 | None | gnomAD-3.1.2 | 2.63E-05 | |
116 | 13 | R/T | 18 | rs569775318 | 0.7219 | None | 1000 genomes | 1.99681E-04 | |
116 | 13 | R/T | 18 | rs569775318 | 0.7219 | None | gnomAD-4.0.0 | 2.97707E-05 | |
117 | 14 | Q/L | 23 | rs2094009394 | 0.3559 | None | gnomAD-4.0.0 | 1.59457E-06 | |
119 | 16 | S/T | 25 | rs371981798 | 0.2347 | None | gnomAD-2.1.1 | 4E-06 | |
119 | 16 | S/T | 25 | rs371981798 | 0.2347 | None | gnomAD-3.1.2 | 6.57E-06 | |
119 | 16 | S/T | 25 | rs371981798 | 0.2347 | None | gnomAD-4.0.0 | 2.48068E-06 | |
122 | 19 | R/S | 29 | None | 0.4976 | None | gnomAD-4.0.0 | 1.59266E-06 | |
123 | 20 | L/F | 30 | rs890453511 | 0.2364 | None | gnomAD-4.0.0 | 2.05324E-06 | |
124 | 21 | Q/R | 31 | rs1307913669 | 0.3581 | None | gnomAD-2.1.1 | 3.99E-06 | |
124 | 21 | Q/R | 31 | rs1307913669 | 0.3581 | None | gnomAD-4.0.0 | 1.59211E-06 | |
125 | 22 | V/L | 33 | rs368101663 | 0.1004 | None | gnomAD-2.1.1 | 7.09E-06 | |
125 | 22 | V/L | 33 | rs368101663 | 0.1004 | None | gnomAD-3.1.2 | 1.31E-05 | |
125 | 22 | V/L | 33 | rs368101663 | 0.1004 | None | gnomAD-4.0.0 | 1.31413E-05 | |
125 | 22 | V/M | 33 | None | 0.1004 | None | gnomAD-4.0.0 | 1.59222E-06 | |
127 | 24 | V/M | 35 | rs749010768 | 0.1183 | None | gnomAD-2.1.1 | 3.98E-06 | |
127 | 24 | V/M | 35 | rs749010768 | 0.1183 | None | gnomAD-4.0.0 | 4.1051E-06 | |
128 | 25 | T/N | 38 | rs769628564 | 0.3115 | None | gnomAD-4.0.0 | 1.36826E-06 | |
128 | 25 | T/S | 38 | rs769628564 | 0.3115 | None | gnomAD-2.1.1 | 3.98E-06 | |
128 | 25 | T/S | 38 | rs769628564 | 0.3115 | None | gnomAD-4.0.0 | 6.8413E-07 | |
129 | 26 | G/E | 40 | None | 0.1756 | None | gnomAD-4.0.0 | 1.20032E-06 | |
129 | 26 | G/R | 40 | rs727503708 | 0.1756 | None | gnomAD-4.0.0 | 1.59097E-06 | |
130 | 27 | I/V | 41 | rs926251115 | 0.3407 | None | gnomAD-3.1.2 | 6.57E-06 | |
130 | 27 | I/V | 41 | rs926251115 | 0.3407 | None | gnomAD-4.0.0 | 6.57142E-06 | |
131 | 28 | P/L | 42 | rs781001961 | 0.3928 | None | gnomAD-2.1.1 | 3.98E-06 | |
131 | 28 | P/L | 42 | rs781001961 | 0.3928 | None | gnomAD-3.1.2 | 1.97E-05 | |
131 | 28 | P/L | 42 | rs781001961 | 0.3928 | None | gnomAD-4.0.0 | 1.97114E-05 | |
131 | 28 | P/S | 42 | rs747867752 | 0.3928 | None | gnomAD-2.1.1 | 1.19E-05 | |
131 | 28 | P/S | 42 | rs747867752 | 0.3928 | None | gnomAD-3.1.2 | 6.57E-06 | |
131 | 28 | P/S | 42 | rs747867752 | 0.3928 | None | gnomAD-4.0.0 | 6.19567E-06 | |
132 | 29 | T/A | 43 | rs1337018303 | 0.6381 | None | gnomAD-4.0.0 | 1.59065E-06 | |
133 | 30 | P/A | 44 | rs556390708 | 0.1684 | None | gnomAD-3.1.2 | 6.57E-06 | |
133 | 30 | P/A | 44 | rs556390708 | 0.1684 | None | gnomAD-4.0.0 | 6.57082E-06 | |
133 | 30 | P/L | 44 | None | 0.1684 | None | gnomAD-4.0.0 | 1.59062E-06 | |
133 | 30 | P/S | 44 | rs556390708 | 0.1684 | None | gnomAD-3.1.2 | 6.57E-06 | |
133 | 30 | P/S | 44 | rs556390708 | 0.1684 | None | 1000 genomes | 1.99681E-04 | |
133 | 30 | P/S | 44 | rs556390708 | 0.1684 | None | gnomAD-4.0.0 | 6.56573E-06 | |
133 | 30 | P/T | 44 | None | 0.1684 | None | gnomAD-4.0.0 | 2.40064E-06 | |
134 | 31 | V/G | 45 | rs754896104 | 0.6167 | None | gnomAD-2.1.1 | 7.96E-06 | |
134 | 31 | V/G | 45 | rs754896104 | 0.6167 | None | gnomAD-4.0.0 | 2.73632E-06 | |
134 | 31 | V/L | 45 | None | 0.6167 | None | gnomAD-4.0.0 | 6.84088E-07 | |
135 | 32 | V/E | 46 | rs1332868582 | 0.1936 | None | gnomAD-3.1.2 | 6.57E-06 | |
135 | 32 | V/E | 46 | rs1332868582 | 0.1936 | None | gnomAD-4.0.0 | 1.85875E-06 | |
135 | 32 | V/M | 46 | None | 0.1936 | None | gnomAD-4.0.0 | 1.59059E-06 | |
137 | 34 | F/I | 48 | None | 0.1434 | None | gnomAD-4.0.0 | 1.5905E-06 | |
137 | 34 | F/L | 48 | rs1482023535 | 0.1434 | None | gnomAD-2.1.1 | 3.98E-06 | |
137 | 34 | F/L | 48 | rs1482023535 | 0.1434 | None | gnomAD-4.0.0 | 1.5905E-06 | |
138 | 35 | Y/C | 49 | rs1561513682 | 0.2063 | None | gnomAD-2.1.1 | 3.98E-06 | |
138 | 35 | Y/C | 49 | rs1561513682 | 0.2063 | None | gnomAD-4.0.0 | 1.5905E-06 | |
139 | 36 | R/Q | 50 | rs780003580 | 0.2597 | None | gnomAD-2.1.1 | 2.39E-05 | |
139 | 36 | R/Q | 50 | rs780003580 | 0.2597 | None | gnomAD-4.0.0 | 1.36814E-05 | |
139 | 36 | R/W | 50 | rs752970602 | 0.2597 | None | gnomAD-2.1.1 | 8.49E-05 | |
139 | 36 | R/W | 50 | rs752970602 | 0.2597 | None | gnomAD-3.1.2 | 4.6E-05 | |
139 | 36 | R/W | 50 | rs752970602 | 0.2597 | None | gnomAD-4.0.0 | 1.06568E-04 | |
141 | 38 | G/E | 52 | rs750730828 | 0.4526 | None | gnomAD-2.1.1 | 2.83E-05 | |
141 | 38 | G/E | 52 | rs750730828 | 0.4526 | None | gnomAD-3.1.2 | 2.63E-05 | |
141 | 38 | G/E | 52 | rs750730828 | 0.4526 | None | gnomAD-4.0.0 | 1.61088E-05 | |
141 | 38 | G/R | 52 | rs758547822 | 0.4526 | None | gnomAD-2.1.1 | 3.98E-06 | |
141 | 38 | G/R | 52 | rs758547822 | 0.4526 | None | gnomAD-4.0.0 | 1.59049E-06 | |
142 | 39 | A/T | 55 | rs765532193 | 0.3464 | None | gnomAD-2.1.1 | 3.98E-06 | |
142 | 39 | A/T | 55 | rs765532193 | 0.3464 | None | gnomAD-3.1.2 | 1.31E-05 | |
142 | 39 | A/T | 55 | rs765532193 | 0.3464 | None | gnomAD-4.0.0 | 3.84156E-06 | |
143 | 40 | E/K | 56 | rs754182768 | 0.3338 | None | gnomAD-2.1.1 | 3.58E-05 | |
143 | 40 | E/K | 56 | rs754182768 | 0.3338 | None | gnomAD-3.1.2 | 1.97E-05 | |
143 | 40 | E/K | 56 | rs754182768 | 0.3338 | None | gnomAD-4.0.0 | 3.71746E-05 | |
143 | 40 | E/V | 56 | None | 0.3338 | None | gnomAD-4.0.0 | 1.20032E-06 | |
145 | 42 | Q/K | 59 | None | 0.8773 | None | gnomAD-4.0.0 | 1.59047E-06 | |
146 | 43 | S/N | 70 | rs1029708061 | 0.3716 | None | gnomAD-2.1.1 | 3.98E-06 | |
146 | 43 | S/N | 70 | rs1029708061 | 0.3716 | None | gnomAD-4.0.0 | 3.4203E-06 | |
146 | 43 | S/R | 70 | None | 0.3716 | None | gnomAD-4.0.0 | 3.42031E-06 | |
147 | 44 | S/F | 73 | None | 0.2351 | None | gnomAD-4.0.0 | 1.20032E-06 | |
149 | 46 | D/N | 115 | rs1465558432 | 0.6883 | None | gnomAD-2.1.1 | 1.19E-05 | |
149 | 46 | D/N | 115 | rs1465558432 | 0.6883 | None | gnomAD-4.0.0 | 5.47248E-06 | |
150 | 47 | F/L | 121 | None | 0.2989 | None | gnomAD-4.0.0 | 5.47247E-06 | |
151 | 48 | Q/H | 122 | rs975437384 | 0.4300 | None | gnomAD-3.1.2 | 6.57E-06 | |
151 | 48 | Q/H | 122 | rs975437384 | 0.4300 | None | gnomAD-4.0.0 | 6.57056E-06 | |
152 | 49 | I/T | 123 | rs1178553128 | 0.2263 | None | gnomAD-2.1.1 | 3.98E-06 | |
152 | 49 | I/T | 123 | rs1178553128 | 0.2263 | None | gnomAD-4.0.0 | 2.73623E-06 | |
154 | 51 | Q/K | 127 | None | 0.4138 | None | gnomAD-4.0.0 | 1.59044E-06 | |
155 | 52 | E/Q | 130 | rs1429805491 | 0.7528 | None | gnomAD-2.1.1 | 3.98E-06 | |
155 | 52 | E/Q | 130 | rs1429805491 | 0.7528 | None | gnomAD-4.0.0 | 1.59045E-06 | |
156 | 53 | G/S | 131 | None | 0.4017 | None | gnomAD-4.0.0 | 1.20032E-06 | |
157 | 54 | D/G | 134 | None | 0.2281 | None | gnomAD-4.0.0 | 1.20032E-06 | |
157 | 54 | D/N | 134 | rs1471570172 | 0.2281 | None | gnomAD-2.1.1 | 3.98E-06 | |
157 | 54 | D/N | 134 | rs1471570172 | 0.2281 | None | gnomAD-3.1.2 | 6.57E-06 | |
157 | 54 | D/N | 134 | rs1471570172 | 0.2281 | None | gnomAD-4.0.0 | 4.33674E-06 | |
158 | 55 | L/F | 135 | rs1490704308 | 0.2006 | None | gnomAD-2.1.1 | 3.18E-05 | |
158 | 55 | L/F | 135 | rs1490704308 | 0.2006 | None | gnomAD-3.1.2 | 6.57E-06 | |
158 | 55 | L/F | 135 | rs1490704308 | 0.2006 | None | gnomAD-4.0.0 | 1.85869E-06 | |
158 | 55 | L/V | 135 | None | 0.2006 | None | gnomAD-4.0.0 | 6.84056E-07 | |
159 | 56 | Y/C | 136 | rs765935940 | 0.1759 | None | gnomAD-2.1.1 | 7.95E-06 | |
159 | 56 | Y/C | 136 | rs765935940 | 0.1759 | None | gnomAD-4.0.0 | 2.73623E-06 | |
160 | 57 | S/C | 137 | None | 0.1699 | None | gnomAD-4.0.0 | 1.20032E-06 | |
160 | 57 | S/G | 137 | rs1482623810 | 0.1699 | None | gnomAD-2.1.1 | 3.98E-06 | |
160 | 57 | S/N | 137 | None | 0.1699 | None | gnomAD-4.0.0 | 1.20032E-06 | |
161 | 58 | L/S | 138 | None | 0.1167 | None | gnomAD-4.0.0 | 1.20032E-06 | |
162 | 59 | L/Q | 139 | rs145438758 | 0.2619 | None | gnomAD-2.1.1 | 3.54E-05 | |
162 | 59 | L/Q | 139 | rs145438758 | 0.2619 | None | gnomAD-3.1.2 | 3.94E-05 | |
162 | 59 | L/Q | 139 | rs145438758 | 0.2619 | None | 1000 genomes | 1.99681E-04 | |
162 | 59 | L/Q | 139 | rs145438758 | 0.2619 | None | gnomAD-4.0.0 | 9.29267E-06 | |
162 | 59 | L/R | 139 | rs145438758 | 0.2619 | None | gnomAD-2.1.1 | 6.37E-05 | |
162 | 59 | L/R | 139 | rs145438758 | 0.2619 | None | gnomAD-3.1.2 | 2.63E-05 | |
162 | 59 | L/R | 139 | rs145438758 | 0.2619 | None | gnomAD-4.0.0 | 2.62826E-05 | |
162 | 59 | L/V | 139 | rs762430512 | 0.2619 | None | gnomAD-2.1.1 | 3.98E-06 | |
162 | 59 | L/V | 139 | rs762430512 | 0.2619 | None | gnomAD-4.0.0 | 1.59044E-06 | |
163 | 60 | I/S | 140 | None | 0.1074 | None | gnomAD-4.0.0 | 1.20032E-06 | |
163 | 60 | I/V | 140 | rs2094004196 | 0.1074 | None | gnomAD-4.0.0 | 1.36812E-06 | |
164 | 61 | A/V | 141 | rs140166195 | 0.3353 | None | gnomAD-2.1.1 | 7.95E-06 | |
164 | 61 | A/V | 141 | rs140166195 | 0.3353 | None | gnomAD-4.0.0 | 1.59045E-06 | |
167 | 64 | Y/F | 145 | rs1331857304 | 0.3694 | None | gnomAD-2.1.1 | 3.98E-06 | |
167 | 64 | Y/F | 145 | rs1331857304 | 0.3694 | None | gnomAD-3.1.2 | 1.31E-05 | |
167 | 64 | Y/F | 145 | rs1331857304 | 0.3694 | None | gnomAD-4.0.0 | 3.84167E-06 | |
167 | 64 | Y/H | 145 | rs1226873128 | 0.3694 | None | gnomAD-2.1.1 | 1.59E-05 | |
167 | 64 | Y/H | 145 | rs1226873128 | 0.3694 | None | gnomAD-3.1.2 | 6.57E-06 | |
167 | 64 | Y/H | 145 | rs1226873128 | 0.3694 | None | gnomAD-4.0.0 | 1.30108E-05 | |
168 | 65 | P/L | 146 | None | 0.2722 | None | gnomAD-4.0.0 | 4.77133E-06 | |
169 | 66 | E/K | 148 | None | 0.5275 | None | gnomAD-4.0.0 | 1.59046E-06 | |
170 | 67 | D/G | 149 | None | 0.2271 | None | gnomAD-4.0.0 | 2.40075E-06 | |
172 | 69 | G/E | 152 | None | 0.1874 | None | gnomAD-4.0.0 | 1.20032E-06 | |
176 | 73 | V/A | 156 | None | 0.1015 | None | gnomAD-4.0.0 | 1.59045E-06 | |
176 | 73 | V/I | 156 | None | 0.1015 | None | gnomAD-4.0.0 | 6.84061E-07 | |
176 | 73 | V/L | 156 | rs941179323 | 0.1015 | None | gnomAD-3.1.2 | 3.29E-05 | |
176 | 73 | V/L | 156 | rs941179323 | 0.1015 | None | gnomAD-4.0.0 | 6.84061E-07 | |
177 | 74 | N/S | 157 | None | 0.3212 | None | gnomAD-4.0.0 | 1.20032E-06 | |
178 | 75 | A/D | 158 | None | 0.0886 |
DCM LVNC |
Literature | None | |
178 | 75 | A/S | 158 | None | 0.0886 | None | gnomAD-4.0.0 | 1.59045E-06 | |
178 | 75 | A/V | 158 | rs1304644881 | 0.0886 | None | gnomAD-3.1.2 | 6.57E-06 | |
178 | 75 | A/V | 158 | rs1304644881 | 0.0886 | None | gnomAD-4.0.0 | 8.05436E-06 | |
179 | 76 | T/A | 159 | rs1453734474 | 0.3368 | None | gnomAD-2.1.1 | 3.98E-06 | |
179 | 76 | T/A | 159 | rs1453734474 | 0.3368 | None | gnomAD-4.0.0 | 2.73623E-06 | |
180 | 77 | N/S | 161 | rs568119356 | 0.1253 | None | gnomAD-2.1.1 | 2.39E-05 | |
180 | 77 | N/S | 161 | rs568119356 | 0.1253 | None | gnomAD-3.1.2 | 1.97E-05 | |
180 | 77 | N/S | 161 | rs568119356 | 0.1253 | None | 1000 genomes | 3.99361E-04 | |
180 | 77 | N/S | 161 | rs568119356 | 0.1253 | None | gnomAD-4.0.0 | 1.23903E-05 | |
181 | 78 | S/N | 162 | rs72647843 | 0.5158 | None | gnomAD-2.1.1 | 5.7996E-03 | |
181 | 78 | S/N | 162 | rs72647843 | 0.5158 | None | gnomAD-3.1.2 | 1.64213E-02 | |
181 | 78 | S/N | 162 | rs72647843 | 0.5158 | None | 1000 genomes | 1.81709E-02 | |
181 | 78 | S/N | 162 | rs72647843 | 0.5158 | None | gnomAD-4.0.0 | 3.19547E-03 | |
181 | 78 | S/R | 162 | None | 0.5158 | None | gnomAD-4.0.0 | 6.84065E-07 | |
181 | 78 | S/T | 162 | None | 0.5158 | None | gnomAD-4.0.0 | 6.8406E-07 | |
182 | 79 | V/A | 163 | rs779093531 | 0.2021 | None | gnomAD-2.1.1 | 7.96E-06 | |
182 | 79 | V/A | 163 | rs779093531 | 0.2021 | None | gnomAD-3.1.2 | 6.57E-06 | |
182 | 79 | V/A | 163 | rs779093531 | 0.2021 | None | gnomAD-4.0.0 | 6.19593E-06 | |
182 | 79 | V/G | 163 | None | 0.2021 | None | gnomAD-4.0.0 | 6.84062E-07 | |
182 | 79 | V/I | 163 | rs370941860 | 0.2021 | None | gnomAD-2.1.1 | 1.59E-05 | |
182 | 79 | V/I | 163 | rs370941860 | 0.2021 | None | gnomAD-3.1.2 | 1.97E-05 | |
182 | 79 | V/I | 163 | rs370941860 | 0.2021 | None | gnomAD-4.0.0 | 1.05326E-05 | |
183 | 80 | G/R | 164 | rs757439753 | 0.0944 | None | gnomAD-2.1.1 | 1.19E-05 | |
183 | 80 | G/R | 164 | rs757439753 | 0.0944 | None | gnomAD-3.1.2 | 6.57E-06 | |
183 | 80 | G/R | 164 | rs757439753 | 0.0944 | None | gnomAD-4.0.0 | 1.11522E-05 | |
185 | 82 | A/S | 166 | rs2094001955 | 0.0700 | None | gnomAD-3.1.2 | 6.57E-06 | |
185 | 82 | A/S | 166 | rs2094001955 | 0.0700 | None | gnomAD-4.0.0 | 6.57013E-06 | |
185 | 82 | A/V | 166 | None | 0.0700 | None | gnomAD-4.0.0 | 1.59047E-06 | |
186 | 83 | T/A | 168 | rs1486250871 | 0.2097 | None | gnomAD-3.1.2 | 6.57E-06 | |
186 | 83 | T/A | 168 | rs1486250871 | 0.2097 | None | gnomAD-4.0.0 | 6.5697E-06 | |
186 | 83 | T/S | 168 | rs1184900499 | 0.2097 | None | gnomAD-4.0.0 | 1.59047E-06 | |
187 | 84 | S/L | 169 | rs754029303 | 0.0869 | None | gnomAD-2.1.1 | 1.06E-05 | |
187 | 84 | S/L | 169 | rs754029303 | 0.0869 | None | gnomAD-3.1.2 | 6.57E-06 | |
187 | 84 | S/L | 169 | rs754029303 | 0.0869 | None | gnomAD-4.0.0 | 8.05453E-06 | |
188 | 85 | T/A | 171 | rs1207248463 | 0.2105 | None | gnomAD-2.1.1 | 3.98E-06 | |
188 | 85 | T/A | 171 | rs1207248463 | 0.2105 | None | gnomAD-4.0.0 | 1.36813E-06 | |
188 | 85 | T/I | 171 | rs1470901624 | 0.2105 | None | gnomAD-3.1.2 | 6.57E-06 | |
188 | 85 | T/I | 171 | rs1470901624 | 0.2105 | None | gnomAD-4.0.0 | 2.47829E-06 | |
189 | 86 | A/G | 172 | rs1261657168 | 0.1022 | None | gnomAD-2.1.1 | 7.96E-06 | |
189 | 86 | A/G | 172 | rs1261657168 | 0.1022 | None | gnomAD-4.0.0 | 4.78847E-06 | |
189 | 86 | A/S | 172 | rs794729610 | 0.1022 | None | gnomAD-3.1.2 | 6.57E-06 | |
189 | 86 | A/S | 172 | rs794729610 | 0.1022 | None | gnomAD-4.0.0 | 6.57056E-06 | |
190 | 87 | E/D | 173 | rs753196873 | 0.3632 | None | gnomAD-2.1.1 | 7.96E-06 | |
190 | 87 | E/D | 173 | rs753196873 | 0.3632 | None | gnomAD-3.1.2 | 5.91E-05 | |
190 | 87 | E/D | 173 | rs753196873 | 0.3632 | None | gnomAD-4.0.0 | 1.36305E-05 | |
190 | 87 | E/Q | 173 | None | 0.3632 | None | gnomAD-4.0.0 | 1.59053E-06 | |
192 | 89 | L/M | 175 | None | 0.4807 | None | gnomAD-4.0.0 | 6.84072E-07 | |
192 | 89 | L/R | 175 | rs1375853157 | 0.4807 | None | gnomAD-3.1.2 | 6.57E-06 | |
192 | 89 | L/R | 175 | rs1375853157 | 0.4807 | None | gnomAD-4.0.0 | 2.56104E-06 | |
193 | 90 | V/F | 177 | None | 0.1054 | None | gnomAD-4.0.0 | 1.20032E-06 |