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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

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

Disease Associations

Disease Zygosity Comments

Population Frequencies

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)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90 100 110 120 130 140 150 160 170 180 190 200 210 220 230 240 250 260 270 280 290 300 310 320
K E L Y E K Y M I A E D L G R G E F G I V H R C V E T S S K K T Y M A K F V K V K G T D Q V L V K K E I S I L N I A R H R N I L H L H E S F E S M E E L V M I F E F I S G L D I F E R I N T S A F E L N E R E I V S Y V H Q V C E A L Q F L H S H N I G H F D I R P E N I I Y Q T R R S S T I K I I E F G Q A R Q L K P G D N F R L L F T A P E Y Y A P E V H Q H D V V S T A T D M W S L G T L V Y V L L S G I N P F L A E T N Q Q I I E N I M N A E Y T F D E E A F K E I S I E A M D F V D R L L V K E R K S R M T A S E A L Q H P W L K Q K I E R V S T K V I R T L K H R R Y Y H T L I K K D L N M V V S A A R I S C G G A I R S Q K G V S V A K V K V A S I E I G P V S G Q I M H A V G E E G G H V K Y V C K I E N Y D Q S T Q V T W Y F G V R Q L E N S E K Y E I T Y E D G V A I L Y V K D I T K L D D G T Y R C K V V N D Y G E D S S Y A E L F V K
K E L Y E K Y M I A E D L G R G E F G I V H R C V E T S S K K T Y M A K F V K V K G T D Q V L V K K E I S I L N I A R H R N I L H L H E S F E S M E E L V M I F E F I S G L D I F E R I N T S A F E L N E R E I V S Y V H Q V C E A L Q F L H S H N I G H F D I R P E N I I Y Q T R R S S T I K I I E F G Q A R Q L K P G D N F R L L F T A P E Y Y A P E V H Q H D V V S T A T D M W S L G T L V Y V L L S G I N P F L A E T N Q Q I I E N I M N A E Y T F D E E A F K E I S I E A M D F V D R L L V K E R K S R M T A S E A L Q H P W L K Q K I E R V S T K V I R T L K H R R Y Y H T L I K K D L N M V V S A A R I S C G G A I R S Q K G V S V A K V K V A S I E I G - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33814 2 E/D None rs1690878070 0.5719 None gnomAD-4.0.0 3.18212E-06
33814 2 E/K None rs760254702 0.5719 None gnomAD-2.1.1 8.04E-06
33814 2 E/K None rs760254702 0.5719 None gnomAD-4.0.0 4.77327E-06
33814 2 E/V None None 0.5719 None gnomAD-4.0.0 1.20032E-06
33816 4 Y/C None None 0.6586 None gnomAD-4.0.0 1.36836E-06
33817 5 E/K None rs771596824 0.6246 None gnomAD-2.1.1 2.41E-05
33817 5 E/K None rs771596824 0.6246 None gnomAD-3.1.2 1.31E-05
33817 5 E/K None rs771596824 0.6246 None gnomAD-4.0.0 1.05335E-05
33819 7 Y/H None None 0.1172 None gnomAD-4.0.0 1.20032E-06
33820 8 M/T None rs995436105 0.5511 None gnomAD-3.1.2 6.57E-06
33820 8 M/T None rs995436105 0.5511 None gnomAD-4.0.0 6.57142E-06
33821 9 I/L None None 0.2557 None gnomAD-4.0.0 3.60097E-06
33821 9 I/T None None 0.2557 None gnomAD-4.0.0 1.20032E-06
33822 10 A/V None rs745421965 0.2033 None gnomAD-2.1.1 4.02E-06
33822 10 A/V None rs745421965 0.2033 None gnomAD-3.1.2 6.57E-06
33822 10 A/V None rs745421965 0.2033 None gnomAD-4.0.0 2.02995E-06
33823 11 E/K None rs778556139 0.3422 None gnomAD-2.1.1 4.02E-06
33823 11 E/K None rs778556139 0.3422 None gnomAD-4.0.0 3.18241E-06
33825 13 L/F None rs1389553978 0.1237 None gnomAD-2.1.1 4.02E-06
33825 13 L/F None rs1389553978 0.1237 None gnomAD-4.0.0 1.36841E-06
33825 13 L/I None None 0.1237 None gnomAD-4.0.0 6.84205E-07
33825 13 L/P None rs1559044679 0.1237 None gnomAD-2.1.1 4.02E-06
33825 13 L/P None rs1559044679 0.1237 None gnomAD-4.0.0 1.59121E-06
33827 15 R/C None rs372067498 0.5728 None gnomAD-2.1.1 3.22E-05
33827 15 R/C None rs372067498 0.5728 None gnomAD-3.1.2 1.97E-05
33827 15 R/C None rs372067498 0.5728 None gnomAD-4.0.0 2.16907E-05
33827 15 R/H None rs376403708 0.5728 None gnomAD-2.1.1 3.68023E-04
33827 15 R/H None rs376403708 0.5728 None gnomAD-3.1.2 2.82582E-04
33827 15 R/H None rs376403708 0.5728 None 1000 genomes 1.99681E-04
33827 15 R/H None rs376403708 0.5728 None gnomAD-4.0.0 1.5739E-04
33827 15 R/P None None 0.5728 None gnomAD-4.0.0 6.84212E-07
33827 15 R/S None rs372067498 0.5728 None gnomAD-3.1.2 6.58E-06
33827 15 R/S None rs372067498 0.5728 None gnomAD-4.0.0 6.57566E-06
33828 16 G/D None rs1690860089 0.2521 None gnomAD-3.1.2 6.57E-06
33828 16 G/D None rs1690860089 0.2521 None gnomAD-4.0.0 1.23938E-06
33828 16 G/V None None 0.2521 None gnomAD-4.0.0 1.36842E-06
33829 17 E/K None rs755890947 0.4139 None gnomAD-2.1.1 4.02E-06
33829 17 E/K None rs755890947 0.4139 None gnomAD-4.0.0 1.59124E-06
33830 18 F/I None rs1575289681 0.231 None gnomAD-4.0.0 1.5912E-06
33830 18 F/Y None None 0.231 None gnomAD-4.0.0 1.5912E-06
33831 19 G/R None None 0.1989 None gnomAD-4.0.0 1.20032E-05
33832 20 I/T None rs1476820246 0.2646 None gnomAD-2.1.1 7.14E-06
33832 20 I/T None rs1476820246 0.2646 None gnomAD-3.1.2 1.31E-05
33832 20 I/T None rs1476820246 0.2646 None gnomAD-4.0.0 1.1774E-05
33834 22 H/R None None 0.1956 None gnomAD-4.0.0 2.05261E-06
33834 22 H/Y None rs534907370 0.1956 None gnomAD-2.1.1 8.05E-06
33834 22 H/Y None rs534907370 0.1956 None gnomAD-3.1.2 6.58E-06
33834 22 H/Y None rs534907370 0.1956 None 1000 genomes 1.99681E-04
33834 22 H/Y None rs534907370 0.1956 None gnomAD-4.0.0 6.81644E-06
33835 23 R/C None rs781516399 0.2729 None gnomAD-2.1.1 8.05E-06
33835 23 R/C None rs781516399 0.2729 None gnomAD-4.0.0 7.95699E-06
33835 23 R/H None rs373854384 0.2729 None gnomAD-2.1.1 3.57E-05
33835 23 R/H None rs373854384 0.2729 None gnomAD-3.1.2 1.31E-05
33835 23 R/H None rs373854384 0.2729 None gnomAD-4.0.0 1.48727E-05
33836 24 C/S None rs766439271 0.0769 None gnomAD-2.1.1 1.14305E-04
33836 24 C/S None rs766439271 0.0769 None gnomAD-3.1.2 6.57E-05
33836 24 C/S None rs766439271 0.0769 None gnomAD-4.0.0 1.00388E-04
33836 24 C/W None None 0.0769 None gnomAD-4.0.0 6.84207E-07
33837 25 V/A None rs1274232213 0.213 None gnomAD-2.1.1 4.02E-06
33837 25 V/A None rs1274232213 0.213 None gnomAD-4.0.0 5.47366E-06
33838 26 E/K None rs750880689 0.1179 None gnomAD-2.1.1 4.02E-06
33838 26 E/K None rs750880689 0.1179 None gnomAD-4.0.0 3.1826E-06
33839 27 T/I None None 0.5228 None gnomAD-4.0.0 1.59131E-06
33840 28 S/F None rs1202069310 0.4976 None gnomAD-3.1.2 1.31E-05
33840 28 S/F None rs1202069310 0.4976 None gnomAD-4.0.0 5.12462E-06
33840 28 S/T None None 0.4976 None gnomAD-4.0.0 1.59125E-06
33842 30 K/E None rs2154136431 0.4978 None gnomAD-3.1.2 6.57E-06
33842 30 K/E None rs2154136431 0.4978 None gnomAD-4.0.0 6.56573E-06
33843 31 K/N None rs377406091 0.6254 None gnomAD-2.1.1 4.02E-06
33843 31 K/N None rs377406091 0.6254 None gnomAD-3.1.2 6.57E-06
33843 31 K/N None rs377406091 0.6254 None gnomAD-4.0.0 7.68634E-06
33844 32 T/I None rs1559043994 0.2508 None gnomAD-2.1.1 4.02E-06
33844 32 T/I None rs1559043994 0.2508 None gnomAD-3.1.2 6.57E-06
33844 32 T/I None rs1559043994 0.2508 None gnomAD-4.0.0 2.56211E-06
33845 33 Y/H None rs1227515280 0.1374 None gnomAD-2.1.1 4.02E-06
33845 33 Y/H None rs1227515280 0.1374 None gnomAD-4.0.0 6.36468E-06
33846 34 M/I None rs1690830241 0.0879 None gnomAD-4.0.0 1.20032E-06
33846 34 M/V None rs565546848 0.0879 None gnomAD-2.1.1 1.21E-05
33846 34 M/V None rs565546848 0.0879 None gnomAD-3.1.2 2.63E-05
33846 34 M/V None rs565546848 0.0879 None 1000 genomes 1.99681E-04
33846 34 M/V None rs565546848 0.0879 None gnomAD-4.0.0 8.05491E-06
33847 35 A/D None None 0.0886 None gnomAD-4.0.0 1.3684E-06
33847 35 A/V None rs1690829202 0.0886 None gnomAD-4.0.0 6.84199E-07
33848 36 K/N None rs774004640 0.1161 None gnomAD-2.1.1 2.01E-05
33848 36 K/N None rs774004640 0.1161 None gnomAD-4.0.0 2.05253E-05
33848 36 K/R None rs759258408 0.1161 None gnomAD-2.1.1 4.02E-06
33848 36 K/R None rs759258408 0.1161 None gnomAD-4.0.0 1.59109E-06
33849 37 F/C None None 0.2171 None gnomAD-4.0.0 2.73673E-06
33850 38 V/D None None 0.1771 None gnomAD-4.0.0 6.84178E-07
33850 38 V/G None None 0.1771 None gnomAD-4.0.0 6.84178E-07
33850 38 V/I None rs1176483211 0.1771 None gnomAD-3.1.2 6.57E-06
33850 38 V/I None rs1176483211 0.1771 None gnomAD-4.0.0 6.57099E-06
33851 39 K/N None None 0.7401 None gnomAD-4.0.0 2.40064E-06
33851 39 K/Q None rs1394900631 0.7401 None gnomAD-2.1.1 8.04E-06
33851 39 K/Q None rs1394900631 0.7401 None gnomAD-4.0.0 3.18224E-06
33851 39 K/T None rs770508302 0.7401 None gnomAD-2.1.1 4.02E-06
33851 39 K/T None rs770508302 0.7401 None gnomAD-4.0.0 1.59113E-06
33853 41 K/E None rs727505163 0.448 None gnomAD-2.1.1 7.14E-06
33853 41 K/E None rs727505163 0.448 None gnomAD-3.1.2 6.57E-06
33853 41 K/E None rs727505163 0.448 None gnomAD-4.0.0 3.84262E-06
33854 42 G/R None None 0.3864 None gnomAD-4.0.0 6.84185E-07
33855 43 T/A None None 0.7844 None gnomAD-4.0.0 1.20039E-06
33855 43 T/P None None 0.7844 None gnomAD-4.0.0 1.20039E-06
33857 45 Q/H None rs1690812361 0.1843 None gnomAD-4.0.0 1.36838E-06
33857 45 Q/R None None 0.1843 None gnomAD-4.0.0 1.20032E-06
33858 46 V/D None rs1172459056 0.4698 None gnomAD-3.1.2 1.31E-05
33858 46 V/D None rs1172459056 0.4698 None gnomAD-4.0.0 1.85904E-06
33858 46 V/G None None 0.4698 None gnomAD-4.0.0 2.73674E-06
33858 46 V/L None rs1060500584 0.4698 None gnomAD-3.1.2 6.57E-06
33858 46 V/L None rs1060500584 0.4698 None gnomAD-4.0.0 6.57117E-06
33860 48 V/I None rs141082389 0.1419 None gnomAD-2.1.1 4.02E-06
33860 48 V/I None rs141082389 0.1419 None gnomAD-3.1.2 2.63E-05
33860 48 V/I None rs141082389 0.1419 None 1000 genomes 1.99681E-04
33860 48 V/I None rs141082389 0.1419 None gnomAD-4.0.0 8.05524E-06
33863 51 E/G None None 0.1317 None gnomAD-4.0.0 4.80129E-06
33863 51 E/K None rs1690803197 0.1317 None gnomAD-4.0.0 3.18234E-06
33864 52 I/V None None 0.2106 None gnomAD-4.0.0 2.0526E-06
33866 54 I/V None None 0.1395 None gnomAD-4.0.0 1.59122E-06
33867 55 L/M None None 0.1372 None gnomAD-4.0.0 1.36841E-06
33867 55 L/V None rs76194811 0.1372 None gnomAD-2.1.1 8.03E-05
33867 55 L/V None rs76194811 0.1372 None gnomAD-3.1.2 2.63E-05
33867 55 L/V None rs76194811 0.1372 None 1000 genomes 1.99681E-04
33867 55 L/V None rs76194811 0.1372 None gnomAD-4.0.0 4.77136E-05
33868 56 N/I None rs748022692 0.4971 None gnomAD-2.1.1 4.02E-06
33868 56 N/I None rs748022692 0.4971 None gnomAD-4.0.0 1.59122E-06
33869 57 I/T None rs1253957228 0.3391 None gnomAD-2.1.1 8.03E-06
33869 57 I/T None rs1253957228 0.3391 None gnomAD-3.1.2 1.97E-05
33869 57 I/T None rs1253957228 0.3391 None gnomAD-4.0.0 9.91477E-06
33870 58 A/G None rs935055445 0.1185 None gnomAD-2.1.1 4.02E-06
33870 58 A/G None rs935055445 0.1185 None gnomAD-4.0.0 4.78957E-06
33871 59 R/K None rs1456770394 0.4976 None gnomAD-2.1.1 4.02E-06
33871 59 R/K None rs1456770394 0.4976 None gnomAD-3.1.2 1.31E-05
33871 59 R/K None rs1456770394 0.4976 None gnomAD-4.0.0 3.84353E-06
33871 59 R/S None rs797046068 0.4976 None gnomAD-4.0.0 7.52649E-06
33872 60 H/N None rs1690791818 0.182 None gnomAD-4.0.0 1.59142E-06
33872 60 H/Q None rs1275685669 0.182 None gnomAD-2.1.1 4.02E-06
33872 60 H/Q None rs1275685669 0.182 None gnomAD-4.0.0 6.84242E-07
33872 60 H/R None None 0.182 None gnomAD-4.0.0 1.20032E-06
33873 61 R/G None None 0.4975 None gnomAD-4.0.0 1.59141E-06
33873 61 R/T None None 0.4975 None gnomAD-4.0.0 1.59144E-06
33875 63 I/V None rs1343609511 0.0889 None gnomAD-2.1.1 4.02E-06
33875 63 I/V None rs1343609511 0.0889 None gnomAD-4.0.0 2.05279E-06
33877 65 H/N None rs1690786587 0.4156 None gnomAD-4.0.0 6.84306E-07
33877 65 H/Q None rs755256603 0.4156 None gnomAD-2.1.1 4.02E-06
33877 65 H/Q None rs755256603 0.4156 None gnomAD-4.0.0 6.84314E-07
33877 65 H/Y None rs1690786587 0.4156 None gnomAD-4.0.0 6.84306E-07
33878 66 L/F None rs1235957959 0.1486 None gnomAD-4.0.0 6.8432E-07
33879 67 H/R None rs762414833 0.3969 None gnomAD-2.1.1 1.21E-05
33879 67 H/R None rs762414833 0.3969 None gnomAD-4.0.0 4.10608E-06
33879 67 H/Y None rs1247427318 0.3969 None gnomAD-2.1.1 3.18E-05
33879 67 H/Y None rs1247427318 0.3969 None gnomAD-3.1.2 1.31E-05
33879 67 H/Y None rs1247427318 0.3969 None gnomAD-4.0.0 6.40828E-06
33880 68 E/A None rs1690780313 0.1997 None gnomAD-4.0.0 1.36875E-06
33880 68 E/Q None None 0.1997 None gnomAD-4.0.0 1.20032E-06
33883 71 E/G None rs1329397426 0.4869 None gnomAD-2.1.1 4.03E-06
33883 71 E/G None rs1329397426 0.4869 None gnomAD-4.0.0 1.59281E-06
33883 71 E/K None None 0.4869 None gnomAD-4.0.0 1.20032E-06
33884 72 S/R None rs758420542 0.3373 None gnomAD-2.1.1 4.03E-06
33884 72 S/R None rs758420542 0.3373 None gnomAD-4.0.0 1.59328E-06
33885 73 M/I None rs777177959 0.9163 None gnomAD-2.1.1 8.06E-06
33885 73 M/I None rs777177959 0.9163 None gnomAD-3.1.2 6.57E-06
33885 73 M/I None rs777177959 0.9163 None gnomAD-4.0.0 1.42606E-05
33885 73 M/T None None 0.9163 None gnomAD-4.0.0 1.20032E-06
33886 74 E/D None rs1171862038 0.4787 None gnomAD-4.0.0 1.36932E-06
33886 74 E/Q None None 0.4787 None gnomAD-4.0.0 2.40065E-06
33887 75 E/K None rs1455680068 0.2703 None gnomAD-2.1.1 1.61E-05
33887 75 E/K None rs1455680068 0.2703 None gnomAD-3.1.2 1.97E-05
33887 75 E/K None rs1455680068 0.2703 None gnomAD-4.0.0 4.34036E-06
33888 76 L/S None rs549890031 0.153 None gnomAD-2.1.1 8.07E-06
33888 76 L/S None rs549890031 0.153 None gnomAD-3.1.2 6.57E-06
33888 76 L/S None rs549890031 0.153 None 1000 genomes 1.99681E-04
33888 76 L/S None rs549890031 0.153 None gnomAD-4.0.0 1.86014E-06
33889 77 V/I None rs34924609 0.1054 None gnomAD-2.1.1 3.11952E-03
33889 77 V/I None rs34924609 0.1054 None gnomAD-3.1.2 3.52187E-03
33889 77 V/I None rs34924609 0.1054 None 1000 genomes 1.19808E-03
33889 77 V/I None rs34924609 0.1054 None gnomAD-4.0.0 5.39094E-03
33890 78 M/I None None 0.1107 None gnomAD-4.0.0 6.84854E-07
33890 78 M/L None rs754298968 0.1107 None gnomAD-2.1.1 1.21E-05
33890 78 M/L None rs754298968 0.1107 None gnomAD-4.0.0 6.37696E-06
33893 81 E/D None rs764487443 0.2127 None gnomAD-2.1.1 1.21E-05
33893 81 E/D None rs764487443 0.2127 None gnomAD-3.1.2 1.31E-05
33893 81 E/D None rs764487443 0.2127 None gnomAD-4.0.0 6.20361E-06
33893 81 E/K None None 0.2127 None gnomAD-4.0.0 3.60097E-06
33894 82 F/I None None 0.2605 None gnomAD-4.0.0 2.40065E-06
33895 83 I/L None rs759278414 0.1299 None gnomAD-4.0.0 6.85192E-07
33895 83 I/T None rs1575286728 0.1299 None gnomAD-3.1.2 6.57E-06
33895 83 I/T None rs1575286728 0.1299 None gnomAD-4.0.0 3.10224E-06
33895 83 I/V None rs759278414 0.1299 None gnomAD-2.1.1 4.05E-06
33895 83 I/V None rs759278414 0.1299 None gnomAD-3.1.2 6.57E-06
33895 83 I/V None rs759278414 0.1299 None gnomAD-4.0.0 1.86142E-06
33896 84 S/L None rs376813674 0.2664 None gnomAD-2.1.1 4.05E-06
33896 84 S/L None rs376813674 0.2664 None gnomAD-3.1.2 1.97E-05
33896 84 S/L None rs376813674 0.2664 None gnomAD-4.0.0 4.96493E-06
33897 85 G/V None None 0.1124 None gnomAD-4.0.0 1.20033E-06
33898 86 L/F None rs371930491 0.2446 None gnomAD-4.0.0 2.74189E-06
33898 86 L/P None rs1575286611 0.2446 None gnomAD-4.0.0 2.40067E-06
33899 87 D/G None rs794729560 0.0716 None gnomAD-2.1.1 4.06E-06
33899 87 D/G None rs794729560 0.0716 None gnomAD-4.0.0 3.1973E-06
33901 89 F/S None None 0.1188 None gnomAD-4.0.0 6.85716E-07
33902 90 E/K None rs762592218 0.1207 None gnomAD-2.1.1 3.18E-05
33902 90 E/K None rs762592218 0.1207 None gnomAD-3.1.2 6.57E-06
33902 90 E/K None rs762592218 0.1207 None gnomAD-4.0.0 2.48411E-06
33902 90 E/Q None rs762592218 0.1207 None gnomAD-2.1.1 4.06E-06
33902 90 E/Q None rs762592218 0.1207 None gnomAD-4.0.0 4.11508E-06
33903 91 R/C None rs772574722 0.105 None gnomAD-2.1.1 4.69E-05
33903 91 R/C None rs772574722 0.105 None gnomAD-3.1.2 3.94E-05
33903 91 R/C None rs772574722 0.105 None gnomAD-4.0.0 2.60895E-05
33903 91 R/H None rs72629782 0.105 None gnomAD-2.1.1 2.41827E-04
33903 91 R/H None rs72629782 0.105 None gnomAD-3.1.2 1.90576E-04
33903 91 R/H None rs72629782 0.105 None 1000 genomes 5.99042E-04
33903 91 R/H None rs72629782 0.105 Other
Literature None
33903 91 R/H None rs72629782 0.105 None gnomAD-4.0.0 9.25565E-05
33903 91 R/L None rs72629782 0.105 None gnomAD-4.0.0 1.37218E-06
33903 91 R/S None None 0.105 None gnomAD-3.1.2 6.57E-06
33903 91 R/S None None 0.105 None gnomAD-4.0.0 2.48471E-06
33904 92 I/T None rs748029947 0.1179 None gnomAD-2.1.1 4.07E-06
33904 92 I/T None rs748029947 0.1179 None gnomAD-4.0.0 7.54692E-06
33904 92 I/V None None 0.1179 None gnomAD-4.0.0 1.08029E-05
33906 94 T/I None rs776487376 0.3405 None gnomAD-2.1.1 4.08E-06
33906 94 T/I None rs776487376 0.3405 None gnomAD-4.0.0 6.8625E-07
33906 94 T/P None None 0.3405 None gnomAD-4.0.0 1.20032E-06
33906 94 T/R None None 0.3405 None gnomAD-4.0.0 2.745E-06
33909 97 F/I None rs1015489403 0.2336 None gnomAD-3.1.2 6.57E-06
33909 97 F/I None rs1015489403 0.2336 None gnomAD-4.0.0 6.56944E-06
33909 97 F/V None rs1015489403 0.2336 None gnomAD-2.1.1 8.16E-06
33909 97 F/V None rs1015489403 0.2336 None gnomAD-3.1.2 6.57E-06
33909 97 F/V None rs1015489403 0.2336 None gnomAD-4.0.0 3.72865E-06
33910 98 E/K None rs943777958 0.6711 None gnomAD-2.1.1 2.53E-05
33910 98 E/K None rs943777958 0.6711 None gnomAD-3.1.2 1.31E-05
33910 98 E/K None rs943777958 0.6711 None gnomAD-4.0.0 2.29979E-05
33911 99 L/F None None 0.1378 None gnomAD-4.0.0 1.20032E-06
33912 100 N/S None rs1436628843 0.1538 None gnomAD-2.1.1 4.08E-06
33912 100 N/S None rs1436628843 0.1538 None gnomAD-3.1.2 6.57E-06
33912 100 N/S None rs1436628843 0.1538 None gnomAD-4.0.0 2.5788E-06
33913 101 E/G None None 0.1161 None gnomAD-4.0.0 2.40064E-06
33913 101 E/K None rs1376195366 0.1161 None gnomAD-2.1.1 4.09E-06
33913 101 E/K None rs1376195366 0.1161 None gnomAD-4.0.0 2.05995E-06
33913 101 E/Q None rs1376195366 0.1161 None gnomAD-4.0.0 6.86651E-07
33914 102 R/T None None 0.2302 None gnomAD-4.0.0 1.60466E-06
33915 103 E/K None rs1690736229 0.3121 None gnomAD-3.1.2 6.57E-06
33915 103 E/K None rs1690736229 0.3121 None gnomAD-4.0.0 6.57047E-06
33917 105 V/I None rs768379988 0.1016 None gnomAD-2.1.1 1.63E-05
33917 105 V/I None rs768379988 0.1016 None gnomAD-3.1.2 6.57E-06
33917 105 V/I None rs768379988 0.1016 None gnomAD-4.0.0 1.67863E-05
33917 105 V/L None rs768379988 0.1016 None gnomAD-4.0.0 6.86694E-07
33918 106 S/G None rs1363833448 0.3463 None gnomAD-2.1.1 3.18E-05
33918 106 S/G None rs1363833448 0.3463 None gnomAD-3.1.2 6.57E-06
33918 106 S/G None rs1363833448 0.3463 None gnomAD-4.0.0 6.5697E-06
33918 106 S/R None rs952080555 0.3463 None gnomAD-2.1.1 4.09E-06
33918 106 S/R None rs952080555 0.3463 None gnomAD-4.0.0 3.20916E-06
33919 107 Y/F None None 0.1361 None gnomAD-4.0.0 1.6046E-06
33921 109 H/Y None rs1410541718 0.3889 None gnomAD-2.1.1 4.09E-06
33921 109 H/Y None rs1410541718 0.3889 None gnomAD-4.0.0 2.05989E-06
33922 110 Q/H None rs55886356 0.125 None gnomAD-2.1.1 7.06851E-03
33922 110 Q/H None rs55886356 0.125 None gnomAD-3.1.2 7.54697E-03
33922 110 Q/H None rs55886356 0.125 None 1000 genomes 4.59265E-03
33922 110 Q/H None rs55886356 0.125 None gnomAD-4.0.0 1.00219E-02
33922 110 Q/R None None 0.125 None gnomAD-4.0.0 6.86511E-07
33923 111 V/I None None 0.1468 None gnomAD-4.0.0 6.86481E-07
33924 112 C/Y None None 0.0766 None gnomAD-4.0.0 6.86374E-07
33925 113 E/G None None 0.1895 None gnomAD-4.0.0 6.86249E-07
33925 113 E/K None rs780205747 0.1895 None gnomAD-2.1.1 1.22E-05
33925 113 E/K None rs780205747 0.1895 None gnomAD-4.0.0 8.01333E-06
33928 116 Q/R None rs772264395 0.3292 None gnomAD-3.1.2 6.57E-06
33928 116 Q/R None rs772264395 0.3292 None gnomAD-4.0.0 1.41607E-05
33929 117 F/S None None 0.2018 None gnomAD-4.0.0 1.60075E-06
33930 118 L/S None None 0.118 None gnomAD-4.0.0 2.40067E-06
33931 119 H/Y None rs746021065 0.1733 None gnomAD-2.1.1 4.07E-06
33931 119 H/Y None rs746021065 0.1733 None gnomAD-4.0.0 1.60008E-06
33933 121 H/N None None 0.3825 None gnomAD-4.0.0 1.59916E-06
33933 121 H/Q None rs757788117 0.3825 None gnomAD-2.1.1 4.06E-06
33933 121 H/Q None rs757788117 0.3825 None gnomAD-3.1.2 6.57E-06
33933 121 H/Q None rs757788117 0.3825 None gnomAD-4.0.0 6.56953E-06
33933 121 H/R None rs778857510 0.3825 None gnomAD-2.1.1 2.44E-05
33933 121 H/R None rs778857510 0.3825 None gnomAD-4.0.0 1.16545E-05
33934 122 N/S None None 0.4081 None gnomAD-4.0.0 1.59831E-06
33935 123 I/M None rs76106451 0.0979 None gnomAD-2.1.1 2.16E-05
33935 123 I/M None rs76106451 0.0979 None gnomAD-3.1.2 1.97E-05
33935 123 I/M None rs76106451 0.0979 None 1000 genomes 1.99681E-04
33935 123 I/M None rs76106451 0.0979 None gnomAD-4.0.0 1.24114E-05
33935 123 I/T None rs778304667 0.0979 None gnomAD-2.1.1 4.05E-06
33935 123 I/T None rs778304667 0.0979 None gnomAD-4.0.0 1.37078E-06
33935 123 I/V None rs56376197 0.0979 None gnomAD-2.1.1 5.00068E-03
33935 123 I/V None rs56376197 0.0979 None gnomAD-3.1.2 1.49078E-02
33935 123 I/V None rs56376197 0.0979 None 1000 genomes 1.23802E-02
33935 123 I/V None rs56376197 0.0979 None gnomAD-4.0.0 2.72457E-03
33936 124 G/A None rs753079587 0.0933 None gnomAD-2.1.1 1.08E-05
33936 124 G/A None rs753079587 0.0933 None gnomAD-4.0.0 2.39871E-05
33936 124 G/E None None 0.0933 None gnomAD-4.0.0 6.85346E-07
33937 125 H/N None rs1690708183 0.1359 None gnomAD-4.0.0 3.1943E-06
33939 127 D/E None None 0.147 None gnomAD-4.0.0 1.59602E-06
33939 127 D/Y None None 0.147 None gnomAD-4.0.0 1.59637E-06
33940 128 I/T None rs184789288 0.1677 None gnomAD-3.1.2 6.57E-06
33940 128 I/T None rs184789288 0.1677 None 1000 genomes 1.99681E-04
33940 128 I/T None rs184789288 0.1677 None gnomAD-4.0.0 6.56694E-06
33940 128 I/V None rs1354041065 0.1677 None gnomAD-2.1.1 4.05E-06
33940 128 I/V None rs1354041065 0.1677 None gnomAD-4.0.0 1.59572E-06
33941 129 R/T None rs762498249 0.1645 None gnomAD-2.1.1 1.08E-05
33941 129 R/T None rs762498249 0.1645 None gnomAD-3.1.2 2.63E-05
33941 129 R/T None rs762498249 0.1645 None gnomAD-4.0.0 7.70074E-06
33943 131 E/G None None 0.1339 None gnomAD-4.0.0 1.20032E-06
33944 132 N/S None rs2154136201 0.1648 None gnomAD-4.0.0 2.73857E-06
33944 132 N/Y None rs1690702377 0.1648 None gnomAD-4.0.0 4.78086E-06
33945 133 I/T None None 0.1032 None gnomAD-4.0.0 2.40064E-06
33945 133 I/V None rs1356126685 0.1032 None gnomAD-2.1.1 4.03E-06
33945 133 I/V None rs1356126685 0.1032 None gnomAD-4.0.0 6.37314E-06
33946 134 I/T None rs1559041085 0.0739 None gnomAD-4.0.0 1.20032E-06
33947 135 Y/C None rs557060548 0.1223 None gnomAD-2.1.1 4.03E-06
33947 135 Y/C None rs557060548 0.1223 None gnomAD-3.1.2 1.31E-05
33947 135 Y/C None rs557060548 0.1223 None 1000 genomes 1.99681E-04
33947 135 Y/C None rs557060548 0.1223 None gnomAD-4.0.0 2.47939E-06
33947 135 Y/S None rs557060548 0.1223 None gnomAD-4.0.0 1.36892E-06
33949 137 T/I None rs1559040993 0.3571 None gnomAD-2.1.1 3.18E-05
33949 137 T/I None rs1559040993 0.3571 None gnomAD-3.1.2 6.57E-06
33949 137 T/I None rs1559040993 0.3571 None gnomAD-4.0.0 6.57358E-06
33950 138 R/G None rs1013907314 0.6385 None gnomAD-3.1.2 6.57E-06
33950 138 R/G None rs1013907314 0.6385 None gnomAD-4.0.0 3.71867E-06
33951 139 R/S None rs761821275 0.8834 None gnomAD-2.1.1 2.01E-05
33951 139 R/S None rs761821275 0.8834 None gnomAD-4.0.0 6.36665E-06
33953 141 S/C None rs1575284524 0.594 None gnomAD-4.0.0 9.54885E-06
33954 142 T/I None rs368172120 0.3244 None gnomAD-4.0.0 2.0527E-06
33954 142 T/N None rs368172120 0.3244 None gnomAD-2.1.1 4.02E-06
33956 144 K/E None None 0.1233 None gnomAD-4.0.0 6.84214E-07
33956 144 K/Q None rs1690684721 0.1233 None gnomAD-3.1.2 1.31E-05
33956 144 K/Q None rs1690684721 0.1233 None gnomAD-4.0.0 3.71808E-06
33957 145 I/L None None 0.1217 None gnomAD-4.0.0 1.59129E-06
33958 146 I/T None rs760516584 0.1201 None gnomAD-2.1.1 2.01E-05
33958 146 I/T None rs760516584 0.1201 None gnomAD-3.1.2 1.31E-05
33958 146 I/T None rs760516584 0.1201 None gnomAD-4.0.0 1.23937E-05
33959 147 E/K None rs886055224 0.147 None gnomAD-2.1.1 4.02E-06
33959 147 E/K None rs886055224 0.147 None gnomAD-3.1.2 2.63E-05
33959 147 E/K None rs886055224 0.147 None gnomAD-4.0.0 1.42532E-05
33959 147 E/V None None 0.147 None gnomAD-4.0.0 1.20032E-06
33960 148 F/L None rs1690680023 0.1804 None gnomAD-3.1.2 6.57E-06
33960 148 F/L None rs1690680023 0.1804 None gnomAD-4.0.0 6.57341E-06
33960 148 F/S None rs1690678952 0.1804 None gnomAD-3.1.2 6.57E-06
33960 148 F/S None rs1690678952 0.1804 None gnomAD-4.0.0 2.56202E-06
33961 149 G/A None None 0.1345 None gnomAD-4.0.0 6.84197E-07
33961 149 G/S None rs775256517 0.1345 None gnomAD-2.1.1 4.02E-06
33961 149 G/S None rs775256517 0.1345 None gnomAD-4.0.0 1.36841E-06
33961 149 G/V None rs1184245523 0.1345 None gnomAD-2.1.1 4.02E-06
33961 149 G/V None rs1184245523 0.1345 None gnomAD-4.0.0 6.84197E-07
33962 150 Q/R None None 0.1177 None gnomAD-4.0.0 1.59119E-06
33964 152 R/C None rs779064623 0.2183 None gnomAD-2.1.1 8.04E-06
33964 152 R/C None rs779064623 0.2183 None gnomAD-3.1.2 1.97E-05
33964 152 R/C None rs779064623 0.2183 None gnomAD-4.0.0 1.23943E-05
33964 152 R/G None rs779064623 0.2183 None gnomAD-2.1.1 4.02E-06
33964 152 R/G None rs779064623 0.2183 None gnomAD-3.1.2 6.57E-06
33964 152 R/G None rs779064623 0.2183 None gnomAD-4.0.0 6.57471E-06
33964 152 R/H None rs55669553 0.2183 None gnomAD-2.1.1 3.45492E-03
33964 152 R/H None rs55669553 0.2183 None gnomAD-3.1.2 1.77468E-03
33964 152 R/H None rs55669553 0.2183 None 1000 genomes 5.99042E-03
33964 152 R/H None rs55669553 0.2183 None gnomAD-4.0.0 2.20038E-03
33964 152 R/L None None 0.2183 None gnomAD-4.0.0 1.36841E-06
33964 152 R/S None None 0.2183 None gnomAD-2.1.1 5.71E-05
33964 152 R/S None None 0.2183 None gnomAD-3.1.2 3.29E-05
33964 152 R/S None None 0.2183 None gnomAD-4.0.0 8.42812E-05
33965 153 Q/H None None 0.5025 None gnomAD-4.0.0 1.59124E-06
33965 153 Q/R None None 0.5025 None gnomAD-4.0.0 1.20032E-06
33967 155 K/I None None 0.6218 None gnomAD-4.0.0 1.59121E-06
33969 157 G/E None None 0.2288 None gnomAD-4.0.0 1.20032E-06
33970 158 D/N None rs749832500 0.4696 None gnomAD-2.1.1 1.21E-05
33970 158 D/N None rs749832500 0.4696 None gnomAD-3.1.2 6.57E-06
33970 158 D/N None rs749832500 0.4696 None gnomAD-4.0.0 4.33801E-06
33971 159 N/D None None 0.5762 None gnomAD-4.0.0 1.59125E-06
33972 160 F/S None None 0.2404 None gnomAD-4.0.0 1.59127E-06
33976 164 F/L None None 0.1233 None gnomAD-4.0.0 1.59127E-06
33976 164 F/S None None 0.1233 None gnomAD-4.0.0 6.84211E-07
33976 164 F/Y None None 0.1233 None gnomAD-4.0.0 1.36842E-06
33977 165 T/A None rs1434947550 0.6447 None gnomAD-3.1.2 1.31E-05
33977 165 T/A None rs1434947550 0.6447 None gnomAD-4.0.0 3.04476E-06
33977 165 T/I None None 0.6447 None gnomAD-4.0.0 3.1826E-06
33978 166 A/T None rs756665400 0.1726 None gnomAD-2.1.1 4.02E-06
33978 166 A/T None rs756665400 0.1726 None gnomAD-4.0.0 1.36847E-06
33979 167 P/R None rs200238877 0.2401 None gnomAD-2.1.1 2.99908E-04
33979 167 P/R None rs200238877 0.2401 None gnomAD-3.1.2 8.67451E-04
33979 167 P/R None rs200238877 0.2401 None 1000 genomes 9.98403E-04
33979 167 P/R None rs200238877 0.2401 None gnomAD-4.0.0 1.67309E-04
33980 168 E/D None rs2154136129 0.097 None gnomAD-3.1.2 6.57E-06
33980 168 E/D None rs2154136129 0.097 None gnomAD-4.0.0 6.56538E-06
33980 168 E/G None rs1559040103 0.097 None gnomAD-2.1.1 4.02E-06
33980 168 E/G None rs1559040103 0.097 None gnomAD-4.0.0 1.59129E-06
33980 168 E/K None None 0.097 None gnomAD-4.0.0 6.84228E-07
33980 168 E/Q None None 0.097 None gnomAD-4.0.0 2.05268E-06
33981 169 Y/H None rs781686886 0.0966 None gnomAD-2.1.1 1.21E-05
33981 169 Y/H None rs781686886 0.0966 None gnomAD-3.1.2 3.29E-05
33981 169 Y/H None rs781686886 0.0966 None gnomAD-4.0.0 9.9151E-06
33982 170 Y/C None rs888342815 0.1116 None gnomAD-3.1.2 6.57E-06
33982 170 Y/C None rs888342815 0.1116 None gnomAD-4.0.0 6.57047E-06
33982 170 Y/D None rs1289613235 0.1116 None gnomAD-2.1.1 4.02E-06
33982 170 Y/D None rs1289613235 0.1116 None gnomAD-4.0.0 6.84224E-07
33982 170 Y/F None None 0.1116 None gnomAD-4.0.0 3.18277E-06
33982 170 Y/H None rs1289613235 0.1116 None gnomAD-2.1.1 4.02E-06
33982 170 Y/H None rs1289613235 0.1116 None gnomAD-4.0.0 1.36845E-06
33984 172 P/H None None 0.0931 None gnomAD-4.0.0 1.36852E-06
33984 172 P/L None rs1392647027 0.0931 None gnomAD-2.1.1 4.02E-06
33984 172 P/L None rs1392647027 0.0931 None gnomAD-4.0.0 1.36852E-06
33984 172 P/R None None 0.0931 None gnomAD-4.0.0 6.84258E-07
33984 172 P/S None None 0.0931 None gnomAD-4.0.0 3.18299E-06
33985 173 E/Q None rs534613934 0.0689 None gnomAD-2.1.1 4.64E-05
33985 173 E/Q None rs534613934 0.0689 None gnomAD-3.1.2 5.91E-05
33985 173 E/Q None rs534613934 0.0689 None 1000 genomes 3.99361E-04
33985 173 E/Q None rs534613934 0.0689 None gnomAD-4.0.0 4.48352E-05
33986 174 V/D None None 0.117 None gnomAD-4.0.0 3.60097E-06
33986 174 V/I None None 0.117 None gnomAD-4.0.0 1.59164E-06
33987 175 H/N None rs1690646810 0.1969 None gnomAD-4.0.0 1.59176E-06
33987 175 H/R None None 0.1969 None gnomAD-4.0.0 1.59172E-06
33987 175 H/Y None rs1690646810 0.1969 None gnomAD-3.1.2 6.57E-06
33987 175 H/Y None rs1690646810 0.1969 None gnomAD-4.0.0 6.57117E-06
33988 176 Q/H None rs1690644273 0.3338 None gnomAD-3.1.2 6.57E-06
33988 176 Q/H None rs1690644273 0.3338 None gnomAD-4.0.0 6.56961E-06
33989 177 H/Y None rs1462346829 0.5063 None gnomAD-2.1.1 8.04E-06
33989 177 H/Y None rs1462346829 0.5063 None gnomAD-4.0.0 4.77509E-06
33991 179 V/F None rs1423532628 0.2424 None gnomAD-2.1.1 8.04E-06
33991 179 V/F None rs1423532628 0.2424 None gnomAD-4.0.0 4.77544E-06
33992 180 V/D None None 0.1029 None gnomAD-4.0.0 1.20032E-06
33992 180 V/I None None 0.1029 None gnomAD-4.0.0 1.20032E-06
33993 181 S/N None None 0.2276 None gnomAD-4.0.0 1.59193E-06
33994 182 T/K None rs1419643205 0.2554 None gnomAD-2.1.1 4.02E-06
33994 182 T/K None rs1419643205 0.2554 None gnomAD-3.1.2 6.57E-06
33994 182 T/K None rs1419643205 0.2554 None gnomAD-4.0.0 8.96875E-06
33996 184 T/I None None 0.1248 None gnomAD-4.0.0 1.59158E-06
33997 185 D/N None None 0.1219 None gnomAD-4.0.0 1.59169E-06
33998 186 M/T None rs1559039438 0.0861 None gnomAD-4.0.0 1.59151E-06
33998 186 M/V None None 0.0861 None gnomAD-4.0.0 1.59161E-06
33999 187 W/C None rs764821435 0.0802 None gnomAD-2.1.1 1.21E-05
33999 187 W/C None rs764821435 0.0802 None gnomAD-4.0.0 4.77458E-06
33999 187 W/R None None 0.0802 None gnomAD-4.0.0 1.20032E-06
33999 187 W/S None None 0.0802 None gnomAD-4.0.0 6.84273E-07
34000 188 S/T None rs1452192430 0.0984 None gnomAD-2.1.1 4.02E-06
34000 188 S/T None rs1452192430 0.0984 None gnomAD-4.0.0 1.59151E-06
34001 189 L/F None rs1225450640 0.1446 None gnomAD-3.1.2 6.57E-06
34001 189 L/F None rs1225450640 0.1446 None gnomAD-4.0.0 2.02983E-06
34003 191 T/P None None 0.0741 None gnomAD-4.0.0 1.36845E-06
34004 192 L/P None None 0.1176 None gnomAD-4.0.0 1.36845E-06
34004 192 L/Q None rs727504897 0.1176 None gnomAD-2.1.1 8.04E-06
34004 192 L/Q None rs727504897 0.1176 None gnomAD-4.0.0 1.36845E-05
34004 192 L/V None None 0.1176 None gnomAD-4.0.0 1.20032E-06
34006 194 Y/H None None 0.0749 None gnomAD-4.0.0 1.59124E-06
34007 195 V/A None rs370702360 0.0753 None gnomAD-2.1.1 4.02E-06
34007 195 V/A None rs370702360 0.0753 None gnomAD-3.1.2 6.57E-06
34007 195 V/A None rs370702360 0.0753 None gnomAD-4.0.0 6.57056E-06
34009 197 L/F None rs760604476 0.1397 None gnomAD-2.1.1 8.04E-06
34009 197 L/F None rs760604476 0.1397 None gnomAD-3.1.2 6.57E-06
34009 197 L/F None rs760604476 0.1397 None gnomAD-4.0.0 2.72657E-05
34010 198 S/N None None 0.0897 None gnomAD-4.0.0 2.73676E-06
34010 198 S/R None rs727503534 0.0897 None gnomAD-2.1.1 2.41E-05
34010 198 S/R None rs727503534 0.0897 None gnomAD-3.1.2 6.57E-06
34010 198 S/R None rs727503534 0.0897 None gnomAD-4.0.0 1.859E-06
34011 199 G/S None None 0.0984 None gnomAD-4.0.0 1.20032E-06
34012 200 I/S None None 0.2149 None gnomAD-4.0.0 4.10515E-06
34012 200 I/T None None 0.2149 None gnomAD-4.0.0 1.36838E-06
34014 202 P/L None rs1369028729 0.0912 None gnomAD-2.1.1 4.02E-06
34014 202 P/L None rs1369028729 0.0912 None gnomAD-4.0.0 1.59121E-06
34014 202 P/S None rs775271604 0.0912 None gnomAD-2.1.1 8.04E-06
34014 202 P/S None rs775271604 0.0912 None gnomAD-4.0.0 1.36839E-06
34014 202 P/T None rs775271604 0.0912 None gnomAD-2.1.1 8.04E-06
34014 202 P/T None rs775271604 0.0912 None gnomAD-3.1.2 1.31E-05
34014 202 P/T None rs775271604 0.0912 None gnomAD-4.0.0 1.48724E-05
34015 203 F/L None None 0.0803 None gnomAD-4.0.0 1.20032E-06
34018 206 E/A None None 1.0905 None gnomAD-4.0.0 1.20032E-06
34018 206 E/D None None 1.0905 None gnomAD-4.0.0 1.59121E-06
34019 207 T/I None None 0.4705 None gnomAD-4.0.0 1.20032E-06
34020 208 N/I None None 0.8361 None gnomAD-4.0.0 1.59122E-06
34021 209 Q/R None None 0.4486 None gnomAD-4.0.0 2.40064E-06
34022 210 Q/R None None 0.3275 None gnomAD-4.0.0 2.73679E-06
34023 211 I/N None rs1254337927 0.1291 None gnomAD-2.1.1 3.18E-05
34023 211 I/N None rs1254337927 0.1291 None gnomAD-3.1.2 6.57E-06
34023 211 I/N None rs1254337927 0.1291 None gnomAD-4.0.0 2.02987E-06
34024 212 I/F None None 0.231 None gnomAD-4.0.0 1.20037E-06
34024 212 I/M None rs1296908123 0.231 None gnomAD-2.1.1 4.02E-06
34024 212 I/M None rs1296908123 0.231 None gnomAD-4.0.0 6.84203E-07
34024 212 I/T None rs779963495 0.231 None gnomAD-2.1.1 4.02E-06
34024 212 I/T None rs779963495 0.231 None gnomAD-4.0.0 4.10523E-06
34025 213 E/G None None 0.2731 None gnomAD-4.0.0 1.20032E-06
34025 213 E/K None None 0.2731 None gnomAD-4.0.0 1.36844E-06
34025 213 E/Q None None 0.2731 None gnomAD-4.0.0 2.05267E-06
34026 214 N/S None rs759826620 0.1912 None gnomAD-2.1.1 4.02E-06
34026 214 N/S None rs759826620 0.1912 None gnomAD-4.0.0 1.3684E-06
34027 215 I/V None rs1690594509 0.0433 None gnomAD-3.1.2 6.57E-06
34027 215 I/V None rs1690594509 0.0433 None gnomAD-4.0.0 6.56935E-06
34028 216 M/L None None 0.2736 None gnomAD-4.0.0 1.20045E-06
34030 218 A/P None None 0.1548 None gnomAD-4.0.0 1.59126E-06
34032 220 Y/C None rs1160872040 0.1907 None gnomAD-3.1.2 6.57E-06
34032 220 Y/C None rs1160872040 0.1907 None gnomAD-4.0.0 6.56927E-06
34032 220 Y/H None None 0.1907 None gnomAD-4.0.0 1.59129E-06
34033 221 T/S None None 0.729 None gnomAD-4.0.0 1.59132E-06
34035 223 D/E None rs370647845 0.2715 None gnomAD-2.1.1 1.43E-05
34035 223 D/E None rs370647845 0.2715 None gnomAD-3.1.2 1.97E-05
34035 223 D/E None rs370647845 0.2715 None gnomAD-4.0.0 1.61122E-05
34035 223 D/N None rs144963736 0.2715 None gnomAD-2.1.1 9.46118E-04
34035 223 D/N None rs144963736 0.2715 None gnomAD-3.1.2 2.52333E-03
34035 223 D/N None rs144963736 0.2715 None 1000 genomes 2.99521E-03
34035 223 D/N None rs144963736 0.2715 None gnomAD-4.0.0 4.97589E-04
34035 223 D/Y None rs144963736 0.2715 None gnomAD-2.1.1 3.18E-05
34035 223 D/Y None rs144963736 0.2715 None gnomAD-3.1.2 6.57E-06
34035 223 D/Y None rs144963736 0.2715 None gnomAD-4.0.0 6.57108E-06
34036 224 E/K None None 0.9542 None gnomAD-4.0.0 2.7369E-06
34037 225 E/A None None 0.658 None gnomAD-4.0.0 1.20032E-06
34038 226 A/P None None 0.15 None gnomAD-4.0.0 6.84246E-07
34038 226 A/T None rs1690579265 0.15 None gnomAD-4.0.0 6.84246E-07
34039 227 F/L None rs1178807411 0.1144 None gnomAD-2.1.1 4.02E-06
34039 227 F/L None rs1178807411 0.1144 None gnomAD-4.0.0 1.59145E-06
34039 227 F/S None rs1553496582 0.1144 None gnomAD-3.1.2 6.57E-06
34039 227 F/S None rs1553496582 0.1144 None gnomAD-4.0.0 1.36337E-05
34041 229 E/G None rs1255397275 0.4656 None gnomAD-2.1.1 4.02E-06
34041 229 E/G None rs1255397275 0.4656 None gnomAD-4.0.0 4.10553E-06
34041 229 E/K None rs377600383 0.4656 None gnomAD-2.1.1 1.178E-04
34041 229 E/K None rs377600383 0.4656 None gnomAD-3.1.2 1.37951E-04
34041 229 E/K None rs377600383 0.4656 None gnomAD-4.0.0 7.49853E-05
34042 230 I/L None rs745822255 0.199 None gnomAD-2.1.1 1.21E-05
34042 230 I/L None rs745822255 0.199 None gnomAD-4.0.0 7.52681E-06
34042 230 I/T None rs373173599 0.199 None gnomAD-2.1.1 7.14E-06
34042 230 I/T None rs373173599 0.199 None gnomAD-3.1.2 2.63E-05
34042 230 I/T None rs373173599 0.199 None gnomAD-4.0.0 8.05622E-06
34043 231 S/G None None 0.1743 None gnomAD-4.0.0 4.10558E-06
34044 232 I/L None rs1690568887 0.8999 None gnomAD-4.0.0 6.8427E-06
34044 232 I/S None None 0.8999 None gnomAD-4.0.0 6.84277E-07
34044 232 I/T None rs1349271119 0.8999 None gnomAD-4.0.0 1.36855E-06
34044 232 I/V None rs1690568887 0.8999 None gnomAD-3.1.2 6.57E-06
34044 232 I/V None rs1690568887 0.8999 None gnomAD-4.0.0 4.33795E-06
34045 233 E/D None None 0.3471 None gnomAD-4.0.0 1.59171E-06
34046 234 A/S None None 0.0586 None gnomAD-4.0.0 1.59178E-06
34046 234 A/V None None 0.0586 None gnomAD-4.0.0 1.20032E-06
34047 235 M/I None None 0.166 None gnomAD-4.0.0 1.5919E-06
34047 235 M/R None rs745563787 0.166 None gnomAD-2.1.1 4.02E-06
34047 235 M/R None rs745563787 0.166 None gnomAD-4.0.0 1.59183E-06
34047 235 M/T None rs745563787 0.166 None gnomAD-2.1.1 4.02E-06
34047 235 M/T None rs745563787 0.166 None gnomAD-4.0.0 1.59183E-06
34047 235 M/V None rs755244797 0.166 None gnomAD-2.1.1 8.04E-06
34047 235 M/V None rs755244797 0.166 None gnomAD-4.0.0 9.55079E-06
34048 236 D/G None None 0.1907 None gnomAD-4.0.0 6.84318E-07
34048 236 D/N None rs778467259 0.1907 None gnomAD-2.1.1 8.04E-06
34048 236 D/N None rs778467259 0.1907 None gnomAD-4.0.0 3.18391E-06
34048 236 D/Y None rs778467259 0.1907 None gnomAD-2.1.1 3.18E-05
34048 236 D/Y None rs778467259 0.1907 None gnomAD-3.1.2 6.57E-06
34048 236 D/Y None rs778467259 0.1907 None gnomAD-4.0.0 6.56918E-06
34050 238 V/I None rs1575280335 0.0795 None gnomAD-4.0.0 7.52809E-06
34051 239 D/E None None 0.492 None gnomAD-4.0.0 6.84435E-07
34051 239 D/Y None None 0.492 None gnomAD-4.0.0 1.59237E-06
34052 240 R/G None rs756924372 0.0952 None gnomAD-2.1.1 4.02E-06
34052 240 R/G None rs756924372 0.0952 None gnomAD-4.0.0 1.36891E-06
34052 240 R/Q None rs369245991 0.0952 None gnomAD-2.1.1 3.62E-05
34052 240 R/Q None rs369245991 0.0952 None gnomAD-3.1.2 1.97E-05
34052 240 R/Q None rs369245991 0.0952 None gnomAD-4.0.0 3.90516E-05
34052 240 R/W None rs756924372 0.0952 None gnomAD-4.0.0 4.10673E-06
34055 243 V/A None rs752582515 0.2003 None gnomAD-2.1.1 1.40936E-04
34055 243 V/A None rs752582515 0.2003 None gnomAD-3.1.2 6.57E-06
34055 243 V/A None rs752582515 0.2003 None gnomAD-4.0.0 2.78988E-05
34055 243 V/L None None 0.2003 None gnomAD-4.0.0 1.5929E-06
34057 245 E/A None rs1418716706 0.7454 None gnomAD-2.1.1 4.03E-06
34057 245 E/A None rs1418716706 0.7454 None gnomAD-4.0.0 1.59332E-06
34057 245 E/D None rs767376871 0.7454 None gnomAD-2.1.1 4.03E-06
34057 245 E/D None rs767376871 0.7454 None gnomAD-3.1.2 6.57E-06
34057 245 E/D None rs767376871 0.7454 None gnomAD-4.0.0 6.57004E-06
34057 245 E/K None rs1173824558 0.7454 None gnomAD-2.1.1 4.03E-06
34057 245 E/K None rs1173824558 0.7454 None gnomAD-4.0.0 1.59339E-06
34058 246 R/K None rs886039007 0.2105 None gnomAD-2.1.1 3.18E-05
34058 246 R/K None rs886039007 0.2105 None gnomAD-3.1.2 4.6E-05
34058 246 R/K None rs886039007 0.2105 None gnomAD-4.0.0 8.06061E-06
34059 247 K/R None rs1690541706 0.6233 None gnomAD-4.0.0 6.84671E-07
34060 248 S/P None rs373945220 0.3762 None gnomAD-2.1.1 4.03E-06
34060 248 S/P None rs373945220 0.3762 None gnomAD-3.1.2 6.57E-06
34061 249 R/C None rs879220772 0.0893 None gnomAD-3.1.2 2.63E-05
34061 249 R/C None rs879220772 0.0893 None gnomAD-4.0.0 8.98247E-06
34061 249 R/H None rs774174825 0.0893 None gnomAD-2.1.1 8.07E-06
34061 249 R/H None rs774174825 0.0893 None gnomAD-4.0.0 1.02726E-05
34061 249 R/L None None 0.0893 None gnomAD-4.0.0 6.84839E-07
34062 250 M/K None None 0.0893 None gnomAD-4.0.0 6.84852E-07
34062 250 M/L None None 0.0893 None gnomAD-4.0.0 1.59473E-06
34062 250 M/R None rs1690534459 0.0893 None gnomAD-4.0.0 4.10911E-06
34062 250 M/T None rs1690534459 0.0893 None gnomAD-4.0.0 6.84852E-07
34063 251 T/I None None 0.3738 None gnomAD-4.0.0 1.59526E-06
34064 252 A/T None rs200237973 0.1058 None gnomAD-2.1.1 1.72057E-04
34064 252 A/T None rs200237973 0.1058 None gnomAD-3.1.2 2.69343E-04
34064 252 A/T None rs200237973 0.1058 None gnomAD-4.0.0 3.65373E-04
34064 252 A/V None rs149921607 0.1058 None gnomAD-2.1.1 6.37E-05
34064 252 A/V None rs149921607 0.1058 None gnomAD-3.1.2 4.6E-05
34064 252 A/V None rs149921607 0.1058 None 1000 genomes 1.99681E-04
34064 252 A/V None rs149921607 0.1058 None gnomAD-4.0.0 6.82341E-06
34065 253 S/L None rs769936820 0.3909 None gnomAD-2.1.1 4.04E-06
34065 253 S/L None rs769936820 0.3909 None gnomAD-3.1.2 6.57E-06
34065 253 S/L None rs769936820 0.3909 None gnomAD-4.0.0 7.70537E-06
34065 253 S/P None rs1690528772 0.3909 None gnomAD-4.0.0 1.37007E-06
34066 254 E/A None None 0.2377 None gnomAD-4.0.0 1.20032E-06
34067 255 A/D None None 0.0767 None gnomAD-4.0.0 2.74112E-06
34067 255 A/G None rs769172246 0.0767 None gnomAD-4.0.0 6.85278E-07
34067 255 A/P None rs776959962 0.0767 None gnomAD-4.0.0 1.59688E-06
34067 255 A/T None rs776959962 0.0767 None gnomAD-2.1.1 4.05E-06
34067 255 A/T None rs776959962 0.0767 None gnomAD-4.0.0 1.59688E-06
34068 256 L/R None rs747379775 0.1651 None gnomAD-2.1.1 4.05E-06
34068 256 L/R None rs747379775 0.1651 None gnomAD-4.0.0 1.59707E-06
34069 257 Q/R None rs780466011 0.401 None gnomAD-2.1.1 8.1E-06
34069 257 Q/R None rs780466011 0.401 None gnomAD-4.0.0 2.05596E-06
34070 258 H/Q None None 0.0942 None gnomAD-4.0.0 6.8546E-07
34072 260 W/R None rs375159973 0.1058 None gnomAD-2.1.1 8.11E-06
34072 260 W/R None rs375159973 0.1058 None gnomAD-3.1.2 1.97E-05
34072 260 W/R None rs375159973 0.1058 CM
MmD-HD
Literature None
34072 260 W/R None rs375159973 0.1058 None gnomAD-4.0.0 2.17264E-05
34074 262 K/N None rs748885900 0.4656 None gnomAD-2.1.1 4.06E-06
34074 262 K/N None rs748885900 0.4656 None gnomAD-3.1.2 6.57E-06
34074 262 K/N None rs748885900 0.4656 None gnomAD-4.0.0 2.57237E-06
34074 262 K/R None None 0.4656 None gnomAD-4.0.0 6.8564E-07
34075 263 Q/E None rs777288641 0.2563 None gnomAD-2.1.1 4.07E-06
34077 265 I/M None None 0.3291 None gnomAD-4.0.0 6.85709E-07
34077 265 I/T None rs1290306844 0.3291 None gnomAD-2.1.1 4.07E-06
34077 265 I/T None rs1290306844 0.3291 None gnomAD-4.0.0 2.05707E-06
34078 266 E/D None rs1043486033 0.4921 None gnomAD-2.1.1 4.07E-06
34078 266 E/D None rs1043486033 0.4921 None gnomAD-4.0.0 1.37137E-06
34078 266 E/K None rs1454101167 0.4921 None gnomAD-2.1.1 4.07E-06
34078 266 E/K None rs1454101167 0.4921 None gnomAD-4.0.0 1.59958E-06
34078 266 E/Q None rs1454101167 0.4921 None gnomAD-3.1.2 6.57E-06
34078 266 E/Q None rs1454101167 0.4921 None gnomAD-4.0.0 6.57039E-06
34079 267 R/K None rs755581166 0.7076 None gnomAD-2.1.1 8.13E-06
34079 267 R/K None rs755581166 0.7076 None gnomAD-4.0.0 2.05707E-06
34080 268 V/D None None 0.1142 None gnomAD-4.0.0 2.40065E-06
34080 268 V/L None rs1467698015 0.1142 None gnomAD-2.1.1 1.44E-05
34080 268 V/L None rs1467698015 0.1142 None gnomAD-3.1.2 1.97E-05
34080 268 V/L None rs1467698015 0.1142 None gnomAD-4.0.0 7.71686E-06
34081 269 S/G None rs752173730 0.2916 None gnomAD-2.1.1 8.13E-06
34081 269 S/G None rs752173730 0.2916 None gnomAD-4.0.0 1.59871E-06
34081 269 S/N None None 0.2916 None gnomAD-4.0.0 6.85606E-07
34082 270 T/I None None 0.5656 None gnomAD-4.0.0 1.37101E-06
34082 270 T/N None rs1375940766 0.5656 None gnomAD-2.1.1 3.19E-05
34082 270 T/N None rs1375940766 0.5656 None gnomAD-3.1.2 6.57E-06
34082 270 T/N None rs1375940766 0.5656 None gnomAD-4.0.0 2.48303E-06
34083 271 K/R None None 0.5159 None gnomAD-4.0.0 1.20032E-06
34084 272 V/A None None 0.4432 None gnomAD-4.0.0 1.59754E-06
34084 272 V/I None rs767405843 0.4432 None gnomAD-2.1.1 4.06E-06
34084 272 V/I None rs767405843 0.4432 None gnomAD-4.0.0 3.195E-06
34085 273 I/M None rs1188731609 0.1796 None gnomAD-2.1.1 4.06E-06
34085 273 I/M None rs1188731609 0.1796 None gnomAD-4.0.0 6.85299E-07
34085 273 I/T None None 0.1796 None gnomAD-4.0.0 1.20032E-06
34086 274 R/I None None 0.94 None gnomAD-4.0.0 6.85191E-07
34086 274 R/K None None 0.94 None gnomAD-4.0.0 6.85191E-07
34086 274 R/T None rs569650065 0.94 None gnomAD-2.1.1 1.22E-05
34086 274 R/T None rs569650065 0.94 None gnomAD-3.1.2 3.29E-05
34086 274 R/T None rs569650065 0.94 None 1000 genomes 1.99681E-04
34086 274 R/T None rs569650065 0.94 None gnomAD-4.0.0 4.96362E-06
34087 275 T/A None None 0.2412 None gnomAD-4.0.0 1.59652E-06
34087 275 T/I None None 0.2412 None gnomAD-4.0.0 6.85123E-07
34087 275 T/K None None 0.2412 None gnomAD-4.0.0 6.85123E-07
34090 278 H/Q None None 0.1088 None gnomAD-4.0.0 1.20032E-06
34090 278 H/Y None None 0.1088 None gnomAD-4.0.0 6.84947E-07
34091 279 R/Q None rs763708375 0.364 None gnomAD-2.1.1 3.23E-05
34091 279 R/Q None rs763708375 0.364 None gnomAD-3.1.2 3.94E-05
34091 279 R/Q None rs763708375 0.364 None gnomAD-4.0.0 7.07026E-05
34091 279 R/W None rs140319117 0.364 None gnomAD-2.1.1 1.01552E-03
34091 279 R/W None rs140319117 0.364 None gnomAD-3.1.2 9.7976E-04
34091 279 R/W None rs140319117 0.364 None 1000 genomes 7.98722E-04
34091 279 R/W None rs140319117 0.364 HMERF
Literature None
34091 279 R/W None rs140319117 0.364 None gnomAD-4.0.0 1.37625E-03
34092 280 R/C None rs765435004 0.6395 None gnomAD-2.1.1 2.02E-05
34092 280 R/C None rs765435004 0.6395 None gnomAD-3.1.2 6.57E-06
34092 280 R/C None rs765435004 0.6395 None gnomAD-4.0.0 6.82188E-06
34092 280 R/H None rs757918924 0.6395 None gnomAD-2.1.1 5.66E-05
34092 280 R/H None rs757918924 0.6395 None gnomAD-3.1.2 3.94E-05
34092 280 R/H None rs757918924 0.6395 None gnomAD-4.0.0 9.36361E-05
34094 282 Y/H None None 0.133 None gnomAD-4.0.0 1.59316E-06
34094 282 Y/S None rs1414440071 0.133 None gnomAD-2.1.1 3.19E-05
34094 282 Y/S None rs1414440071 0.133 None gnomAD-3.1.2 6.57E-06
34094 282 Y/S None rs1414440071 0.133 None gnomAD-4.0.0 1.30194E-05
34095 283 H/P None rs1437743604 0.7897 None gnomAD-3.1.2 1.97E-05
34095 283 H/P None rs1437743604 0.7897 None gnomAD-4.0.0 5.12826E-06
34096 284 T/I None rs375002174 0.4633 None gnomAD-2.1.1 8.07E-06
34096 284 T/I None rs375002174 0.4633 None gnomAD-3.1.2 6.57E-06
34096 284 T/I None rs375002174 0.4633 None gnomAD-4.0.0 6.19917E-06
34096 284 T/N None rs375002174 0.4633 None gnomAD-2.1.1 5.24E-05
34096 284 T/N None rs375002174 0.4633 None gnomAD-3.1.2 5.26E-05
34096 284 T/N None rs375002174 0.4633 None gnomAD-4.0.0 3.84349E-05
34097 285 L/M None rs775734528 0.1937 None gnomAD-2.1.1 4.03E-06
34097 285 L/M None rs775734528 0.1937 None gnomAD-4.0.0 1.59257E-06
34097 285 L/P None rs1324222809 0.1937 None gnomAD-2.1.1 8.06E-06
34097 285 L/P None rs1324222809 0.1937 None gnomAD-4.0.0 3.42212E-06
34097 285 L/Q None None 0.1937 None gnomAD-4.0.0 6.84423E-07
34097 285 L/R None None 0.1937 None gnomAD-4.0.0 1.36885E-06
34098 286 I/F None None 0.2515 None gnomAD-4.0.0 1.59223E-06
34098 286 I/T None rs1480810435 0.2515 None gnomAD-3.1.2 6.57E-06
34098 286 I/T None rs1480810435 0.2515 None gnomAD-4.0.0 6.57289E-06
34099 287 K/N None rs772381654 0.7407 None gnomAD-2.1.1 4.03E-06
34099 287 K/N None rs772381654 0.7407 None gnomAD-4.0.0 1.592E-06
34099 287 K/R None None 0.7407 None gnomAD-4.0.0 1.3687E-06
34101 289 D/N None None 1.189 None gnomAD-4.0.0 1.5918E-06
34102 290 L/R None rs748971754 0.4763 None gnomAD-2.1.1 2.82E-05
34102 290 L/R None rs748971754 0.4763 None gnomAD-3.1.2 6.57E-06
34102 290 L/R None rs748971754 0.4763 None gnomAD-4.0.0 6.40649E-06
34103 291 N/D None None 1.0812 None gnomAD-4.0.0 6.84271E-07
34103 291 N/H None None 1.0812 None gnomAD-4.0.0 1.36854E-06
34103 291 N/I None rs557630306 1.0812 None gnomAD-2.1.1 2.86E-05
34103 291 N/I None rs557630306 1.0812 None gnomAD-3.1.2 2.63E-05
34103 291 N/I None rs557630306 1.0812 None 1000 genomes 1.99681E-04
34103 291 N/I None rs557630306 1.0812 None gnomAD-4.0.0 5.57726E-06
34103 291 N/S None rs557630306 1.0812 None gnomAD-2.1.1 4.02E-06
34103 291 N/S None rs557630306 1.0812 None gnomAD-3.1.2 6.57E-06
34103 291 N/S None rs557630306 1.0812 None gnomAD-4.0.0 1.23939E-06
34104 292 M/I None None 0.2216 None gnomAD-4.0.0 2.73697E-06
34104 292 M/R None rs769416699 0.2216 None gnomAD-2.1.1 4.02E-06
34104 292 M/R None rs769416699 0.2216 None gnomAD-4.0.0 6.84235E-07
34104 292 M/T None rs769416699 0.2216 None gnomAD-4.0.0 6.84235E-07
34104 292 M/V None rs1559035751 0.2216 None gnomAD-2.1.1 4.02E-06
34104 292 M/V None rs1559035751 0.2216 None gnomAD-4.0.0 2.05274E-06
34105 293 V/D None rs747672013 0.5787 None gnomAD-2.1.1 4.02E-06
34105 293 V/D None rs747672013 0.5787 None gnomAD-4.0.0 1.59135E-06
34106 294 V/M None rs780748204 0.2087 None gnomAD-2.1.1 4.02E-06
34108 296 A/P None None 0.1383 None gnomAD-4.0.0 1.36845E-06
34108 296 A/T None None 0.1383 None gnomAD-4.0.0 1.36845E-06
34108 296 A/V None None 0.1383 None gnomAD-4.0.0 6.84224E-07
34109 297 A/T None rs786205293 0.0837 None gnomAD-2.1.1 8.04E-06
34109 297 A/T None rs786205293 0.0837 None gnomAD-4.0.0 4.10524E-06
34109 297 A/V None rs1475114423 0.0837 None gnomAD-2.1.1 4.02E-06
34109 297 A/V None rs1475114423 0.0837 None gnomAD-4.0.0 3.18251E-06
34110 298 R/Q None rs565347600 0.1799 None gnomAD-2.1.1 3.22E-05
34110 298 R/Q None rs565347600 0.1799 None gnomAD-3.1.2 1.97E-05
34110 298 R/Q None rs565347600 0.1799 None 1000 genomes 1.99681E-04
34110 298 R/Q None rs565347600 0.1799 None gnomAD-4.0.0 1.61106E-05
34110 298 R/W None rs754873937 0.1799 None gnomAD-2.1.1 4.29E-05
34110 298 R/W None rs754873937 0.1799 None gnomAD-3.1.2 5.26E-05
34110 298 R/W None rs754873937 0.1799 None gnomAD-4.0.0 1.48729E-05
34112 300 S/A None rs889518198 0.0778 None gnomAD-3.1.2 6.57E-06
34112 300 S/A None rs889518198 0.0778 None gnomAD-4.0.0 1.23931E-06
34112 300 S/F None rs1252666695 0.0778 None gnomAD-2.1.1 4.02E-06
34112 300 S/F None rs1252666695 0.0778 None gnomAD-4.0.0 1.59114E-06
34112 300 S/P None None 0.0778 None gnomAD-4.0.0 6.84182E-07
34113 301 C/W None rs794729561 0.3183 None gnomAD-4.0.0 1.59107E-06
34113 301 C/Y None None 0.3183 None gnomAD-4.0.0 1.20032E-06
34115 303 G/R None None 0.1493 None gnomAD-4.0.0 1.59105E-06
34116 304 A/T None None 0.1753 None gnomAD-4.0.0 1.36834E-06
34116 304 A/V None rs1690458726 0.1753 None gnomAD-3.1.2 6.57E-06
34116 304 A/V None rs1690458726 0.1753 None gnomAD-4.0.0 6.57168E-06
34117 305 I/V None None 0.214 None gnomAD-4.0.0 1.59103E-06
34118 306 R/Q None rs551905996 0.196 None gnomAD-2.1.1 4.64E-05
34118 306 R/Q None rs551905996 0.196 None gnomAD-3.1.2 9.86E-05
34118 306 R/Q None rs551905996 0.196 None 1000 genomes 1.99681E-04
34118 306 R/Q None rs551905996 0.196 None gnomAD-4.0.0 3.77956E-05
34119 307 S/F None None 0.2542 None gnomAD-4.0.0 3.60097E-06
34119 307 S/P None rs1690455117 0.2542 None gnomAD-4.0.0 1.59101E-06
34120 308 Q/P None None 0.8395 None gnomAD-4.0.0 1.20046E-06
34122 310 G/A None None 0.6522 None gnomAD-4.0.0 1.59098E-06
34122 310 G/R None rs1195753595 0.6522 None gnomAD-2.1.1 4.02E-06
34122 310 G/R None rs1195753595 0.6522 None gnomAD-4.0.0 1.591E-06
34123 311 V/A None rs1060500587 0.2366 None gnomAD-2.1.1 4.02E-06
34123 311 V/A None rs1060500587 0.2366 None gnomAD-4.0.0 1.59097E-06
34123 311 V/G None rs1060500587 0.2366 None gnomAD-3.1.2 1.32E-05
34123 311 V/G None rs1060500587 0.2366 None gnomAD-4.0.0 3.84472E-06
34123 311 V/M None rs1690450339 0.2366 None gnomAD-3.1.2 6.57E-06
34123 311 V/M None rs1690450339 0.2366 None gnomAD-4.0.0 2.02973E-06
34124 312 S/N None rs1271436308 0.2908 None gnomAD-2.1.1 7.13E-06
34124 312 S/N None rs1271436308 0.2908 None gnomAD-3.1.2 6.57E-06
34124 312 S/N None rs1271436308 0.2908 None gnomAD-4.0.0 6.19627E-06
34125 313 V/A None rs762110611 0.4153 None gnomAD-2.1.1 4.02E-06
34125 313 V/A None rs762110611 0.4153 None gnomAD-3.1.2 6.57E-06
34125 313 V/A None rs762110611 0.4153 None gnomAD-4.0.0 6.40403E-06
34125 313 V/I None rs765603620 0.4153 None gnomAD-2.1.1 1.2E-05
34125 313 V/I None rs765603620 0.4153 None gnomAD-4.0.0 2.73662E-06
34125 313 V/L None rs765603620 0.4153 None gnomAD-2.1.1 4.02E-06
34125 313 V/L None rs765603620 0.4153 None gnomAD-4.0.0 4.10493E-06
34126 314 A/V None rs1280930563 0.1001 None gnomAD-3.1.2 6.57E-06
34126 314 A/V None rs1280930563 0.1001 None gnomAD-4.0.0 6.4049E-06
34127 315 K/E None rs1327804969 0.687 None gnomAD-3.1.2 1.31E-05
34127 315 K/E None rs1327804969 0.687 None gnomAD-4.0.0 3.04471E-06
34128 316 V/G None None 0.0979 None gnomAD-4.0.0 2.05247E-06
34128 316 V/L None rs753871187 0.0979 None gnomAD-2.1.1 1.61E-05
34128 316 V/L None rs753871187 0.0979 None gnomAD-4.0.0 1.43188E-05
34130 318 V/G None None 0.0972 None gnomAD-4.0.0 1.591E-06
34131 319 A/T None None 0.2314 None gnomAD-4.0.0 2.40064E-06
34132 320 S/F None None 0.65 None gnomAD-4.0.0 1.20032E-06
34132 320 S/P None rs876658098 0.65 None gnomAD-2.1.1 3.18E-05
34132 320 S/P None rs876658098 0.65 None gnomAD-3.1.2 6.57E-06
34132 320 S/P None rs876658098 0.65 None gnomAD-4.0.0 6.57082E-06
34132 320 S/T None rs876658098 0.65 None gnomAD-2.1.1 4.01E-06
34132 320 S/T None rs876658098 0.65 None gnomAD-4.0.0 2.05246E-06
34133 321 I/L None rs1328046092 0.8566 None gnomAD-2.1.1 4.02E-06
34133 321 I/L None rs1328046092 0.8566 None gnomAD-3.1.2 6.57E-06
34133 321 I/L None rs1328046092 0.8566 None gnomAD-4.0.0 2.47856E-06
34133 321 I/T None rs764179161 0.8566 None gnomAD-2.1.1 3.92E-05
34133 321 I/T None rs764179161 0.8566 None gnomAD-3.1.2 5.26E-05
34133 321 I/T None rs764179161 0.8566 None gnomAD-4.0.0 4.2136E-05
34133 321 I/V None None 0.8566 None gnomAD-4.0.0 6.84155E-07
34134 322 E/D None None 0.5167 None gnomAD-4.0.0 1.59096E-06
34134 322 E/K None rs1690433095 0.5167 None gnomAD-3.1.2 6.57E-06
34134 322 E/K None rs1690433095 0.5167 None gnomAD-4.0.0 5.12333E-06
34135 323 I/T None rs917268577 0.6166 None gnomAD-4.0.0 2.7366E-06