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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 0.588 None gnomAD-4.0.0 3.18212E-06
33814 2 E/K None rs760254702 0.588 None gnomAD-2.1.1 8.04E-06
33814 2 E/K None rs760254702 0.588 None gnomAD-4.0.0 4.77327E-06
33814 2 E/V None None 0.588 None gnomAD-4.0.0 1.20032E-06
33816 4 Y/C None None 0.6683 None gnomAD-4.0.0 1.36836E-06
33817 5 E/K None rs771596824 0.6342 None gnomAD-2.1.1 2.41E-05
33817 5 E/K None rs771596824 0.6342 None gnomAD-3.1.2 1.31E-05
33817 5 E/K None rs771596824 0.6342 None gnomAD-4.0.0 1.05335E-05
33819 7 Y/H None None 0.1204 None gnomAD-4.0.0 1.20032E-06
33820 8 M/T None rs995436105 0.5405 None gnomAD-3.1.2 6.57E-06
33820 8 M/T None rs995436105 0.5405 None gnomAD-4.0.0 6.57142E-06
33821 9 I/L None None 0.2571 None gnomAD-4.0.0 3.60097E-06
33821 9 I/T None None 0.2571 None gnomAD-4.0.0 1.20032E-06
33822 10 A/V None rs745421965 0.2014 None gnomAD-2.1.1 4.02E-06
33822 10 A/V None rs745421965 0.2014 None gnomAD-3.1.2 6.57E-06
33822 10 A/V None rs745421965 0.2014 None gnomAD-4.0.0 2.02995E-06
33823 11 E/K None rs778556139 0.3373 None gnomAD-2.1.1 4.02E-06
33823 11 E/K None rs778556139 0.3373 None gnomAD-4.0.0 3.18241E-06
33825 13 L/F None rs1389553978 0.1169 None gnomAD-2.1.1 4.02E-06
33825 13 L/F None rs1389553978 0.1169 None gnomAD-4.0.0 1.36841E-06
33825 13 L/I None None 0.1169 None gnomAD-4.0.0 6.84205E-07
33825 13 L/P None rs1559044679 0.1169 None gnomAD-2.1.1 4.02E-06
33825 13 L/P None rs1559044679 0.1169 None gnomAD-4.0.0 1.59121E-06
33827 15 R/C None rs372067498 0.5079 None gnomAD-2.1.1 3.22E-05
33827 15 R/C None rs372067498 0.5079 None gnomAD-3.1.2 1.97E-05
33827 15 R/C None rs372067498 0.5079 None gnomAD-4.0.0 2.16907E-05
33827 15 R/H None rs376403708 0.5079 None gnomAD-2.1.1 3.68023E-04
33827 15 R/H None rs376403708 0.5079 None gnomAD-3.1.2 2.82582E-04
33827 15 R/H None rs376403708 0.5079 None 1000 genomes 1.99681E-04
33827 15 R/H None rs376403708 0.5079 None gnomAD-4.0.0 1.5739E-04
33827 15 R/P None None 0.5079 None gnomAD-4.0.0 6.84212E-07
33827 15 R/S None rs372067498 0.5079 None gnomAD-3.1.2 6.58E-06
33827 15 R/S None rs372067498 0.5079 None gnomAD-4.0.0 6.57566E-06
33828 16 G/D None rs1690860089 0.2303 None gnomAD-3.1.2 6.57E-06
33828 16 G/D None rs1690860089 0.2303 None gnomAD-4.0.0 1.23938E-06
33828 16 G/V None None 0.2303 None gnomAD-4.0.0 1.36842E-06
33829 17 E/K None rs755890947 0.6066 None gnomAD-2.1.1 4.02E-06
33829 17 E/K None rs755890947 0.6066 None gnomAD-4.0.0 1.59124E-06
33830 18 F/I None rs1575289681 0.2252 None gnomAD-4.0.0 1.5912E-06
33830 18 F/Y None None 0.2252 None gnomAD-4.0.0 1.5912E-06
33831 19 G/R None None 0.1945 None gnomAD-4.0.0 1.20032E-05
33832 20 I/T None rs1476820246 0.2688 None gnomAD-2.1.1 7.14E-06
33832 20 I/T None rs1476820246 0.2688 None gnomAD-3.1.2 1.31E-05
33832 20 I/T None rs1476820246 0.2688 None gnomAD-4.0.0 1.1774E-05
33834 22 H/R None None 0.1983 None gnomAD-4.0.0 2.05261E-06
33834 22 H/Y None rs534907370 0.1983 None gnomAD-2.1.1 8.05E-06
33834 22 H/Y None rs534907370 0.1983 None gnomAD-3.1.2 6.58E-06
33834 22 H/Y None rs534907370 0.1983 None 1000 genomes 1.99681E-04
33834 22 H/Y None rs534907370 0.1983 None gnomAD-4.0.0 6.81644E-06
33835 23 R/C None rs781516399 0.2654 None gnomAD-2.1.1 8.05E-06
33835 23 R/C None rs781516399 0.2654 None gnomAD-4.0.0 7.95699E-06
33835 23 R/H None rs373854384 0.2654 None gnomAD-2.1.1 3.57E-05
33835 23 R/H None rs373854384 0.2654 None gnomAD-3.1.2 1.31E-05
33835 23 R/H None rs373854384 0.2654 None gnomAD-4.0.0 1.48727E-05
33836 24 C/S None rs766439271 0.0779 None gnomAD-2.1.1 1.14305E-04
33836 24 C/S None rs766439271 0.0779 None gnomAD-3.1.2 6.57E-05
33836 24 C/S None rs766439271 0.0779 None gnomAD-4.0.0 1.00388E-04
33836 24 C/W None None 0.0779 None gnomAD-4.0.0 6.84207E-07
33837 25 V/A None rs1274232213 0.2118 None gnomAD-2.1.1 4.02E-06
33837 25 V/A None rs1274232213 0.2118 None gnomAD-4.0.0 5.47366E-06
33838 26 E/K None rs750880689 0.128 None gnomAD-2.1.1 4.02E-06
33838 26 E/K None rs750880689 0.128 None gnomAD-4.0.0 3.1826E-06
33839 27 T/I None None 0.5135 None gnomAD-4.0.0 1.59131E-06
33840 28 S/F None rs1202069310 0.4883 None gnomAD-3.1.2 1.31E-05
33840 28 S/F None rs1202069310 0.4883 None gnomAD-4.0.0 5.12462E-06
33840 28 S/T None None 0.4883 None gnomAD-4.0.0 1.59125E-06
33842 30 K/E None rs2154136431 0.501 None gnomAD-3.1.2 6.57E-06
33842 30 K/E None rs2154136431 0.501 None gnomAD-4.0.0 6.56573E-06
33843 31 K/N None rs377406091 0.6593 None gnomAD-2.1.1 4.02E-06
33843 31 K/N None rs377406091 0.6593 None gnomAD-3.1.2 6.57E-06
33843 31 K/N None rs377406091 0.6593 None gnomAD-4.0.0 7.68634E-06
33844 32 T/I None rs1559043994 0.2441 None gnomAD-2.1.1 4.02E-06
33844 32 T/I None rs1559043994 0.2441 None gnomAD-3.1.2 6.57E-06
33844 32 T/I None rs1559043994 0.2441 None gnomAD-4.0.0 2.56211E-06
33845 33 Y/H None rs1227515280 0.1389 None gnomAD-2.1.1 4.02E-06
33845 33 Y/H None rs1227515280 0.1389 None gnomAD-4.0.0 6.36468E-06
33846 34 M/I None rs1690830241 0.0882 None gnomAD-4.0.0 1.20032E-06
33846 34 M/V None rs565546848 0.0882 None gnomAD-2.1.1 1.21E-05
33846 34 M/V None rs565546848 0.0882 None gnomAD-3.1.2 2.63E-05
33846 34 M/V None rs565546848 0.0882 None 1000 genomes 1.99681E-04
33846 34 M/V None rs565546848 0.0882 None gnomAD-4.0.0 8.05491E-06
33847 35 A/D None None 0.0894 None gnomAD-4.0.0 1.3684E-06
33847 35 A/V None rs1690829202 0.0894 None gnomAD-4.0.0 6.84199E-07
33848 36 K/N None rs774004640 0.1147 None gnomAD-2.1.1 2.01E-05
33848 36 K/N None rs774004640 0.1147 None gnomAD-4.0.0 2.05253E-05
33848 36 K/R None rs759258408 0.1147 None gnomAD-2.1.1 4.02E-06
33848 36 K/R None rs759258408 0.1147 None gnomAD-4.0.0 1.59109E-06
33849 37 F/C None None 0.2155 None gnomAD-4.0.0 2.73673E-06
33850 38 V/D None None 0.1709 None gnomAD-4.0.0 6.84178E-07
33850 38 V/G None None 0.1709 None gnomAD-4.0.0 6.84178E-07
33850 38 V/I None rs1176483211 0.1709 None gnomAD-3.1.2 6.57E-06
33850 38 V/I None rs1176483211 0.1709 None gnomAD-4.0.0 6.57099E-06
33851 39 K/N None None 0.7171 None gnomAD-4.0.0 2.40064E-06
33851 39 K/Q None rs1394900631 0.7171 None gnomAD-2.1.1 8.04E-06
33851 39 K/Q None rs1394900631 0.7171 None gnomAD-4.0.0 3.18224E-06
33851 39 K/T None rs770508302 0.7171 None gnomAD-2.1.1 4.02E-06
33851 39 K/T None rs770508302 0.7171 None gnomAD-4.0.0 1.59113E-06
33853 41 K/E None rs727505163 0.6543 None gnomAD-2.1.1 7.14E-06
33853 41 K/E None rs727505163 0.6543 None gnomAD-3.1.2 6.57E-06
33853 41 K/E None rs727505163 0.6543 None gnomAD-4.0.0 3.84262E-06
33854 42 G/R None None 0.4497 None gnomAD-4.0.0 6.84185E-07
33855 43 T/A None None 0.8018 None gnomAD-4.0.0 1.20039E-06
33855 43 T/P None None 0.8018 None gnomAD-4.0.0 1.20039E-06
33857 45 Q/H None rs1690812361 0.3407 None gnomAD-4.0.0 1.36838E-06
33857 45 Q/R None None 0.3407 None gnomAD-4.0.0 1.20032E-06
33858 46 V/D None rs1172459056 0.526 None gnomAD-3.1.2 1.31E-05
33858 46 V/D None rs1172459056 0.526 None gnomAD-4.0.0 1.85904E-06
33858 46 V/G None None 0.526 None gnomAD-4.0.0 2.73674E-06
33858 46 V/L None rs1060500584 0.526 None gnomAD-3.1.2 6.57E-06
33858 46 V/L None rs1060500584 0.526 None gnomAD-4.0.0 6.57117E-06
33860 48 V/I None rs141082389 0.1652 None gnomAD-2.1.1 4.02E-06
33860 48 V/I None rs141082389 0.1652 None gnomAD-3.1.2 2.63E-05
33860 48 V/I None rs141082389 0.1652 None 1000 genomes 1.99681E-04
33860 48 V/I None rs141082389 0.1652 None gnomAD-4.0.0 8.05524E-06
33863 51 E/G None None 0.1501 None gnomAD-4.0.0 4.80129E-06
33863 51 E/K None rs1690803197 0.1501 None gnomAD-4.0.0 3.18234E-06
33864 52 I/V None None 0.2257 None gnomAD-4.0.0 2.0526E-06
33866 54 I/V None None 0.1408 None gnomAD-4.0.0 1.59122E-06
33867 55 L/M None None 0.1397 None gnomAD-4.0.0 1.36841E-06
33867 55 L/V None rs76194811 0.1397 None gnomAD-2.1.1 8.03E-05
33867 55 L/V None rs76194811 0.1397 None gnomAD-3.1.2 2.63E-05
33867 55 L/V None rs76194811 0.1397 None 1000 genomes 1.99681E-04
33867 55 L/V None rs76194811 0.1397 None gnomAD-4.0.0 4.77136E-05
33868 56 N/I None rs748022692 0.4417 None gnomAD-2.1.1 4.02E-06
33868 56 N/I None rs748022692 0.4417 None gnomAD-4.0.0 1.59122E-06
33869 57 I/T None rs1253957228 0.3531 None gnomAD-2.1.1 8.03E-06
33869 57 I/T None rs1253957228 0.3531 None gnomAD-3.1.2 1.97E-05
33869 57 I/T None rs1253957228 0.3531 None gnomAD-4.0.0 9.91477E-06
33870 58 A/G None rs935055445 0.1258 None gnomAD-2.1.1 4.02E-06
33870 58 A/G None rs935055445 0.1258 None gnomAD-4.0.0 4.78957E-06
33871 59 R/K None rs1456770394 0.4238 None gnomAD-2.1.1 4.02E-06
33871 59 R/K None rs1456770394 0.4238 None gnomAD-3.1.2 1.31E-05
33871 59 R/K None rs1456770394 0.4238 None gnomAD-4.0.0 3.84353E-06
33871 59 R/S None rs797046068 0.4238 None gnomAD-4.0.0 7.52649E-06
33872 60 H/N None rs1690791818 0.1838 None gnomAD-4.0.0 1.59142E-06
33872 60 H/Q None rs1275685669 0.1838 None gnomAD-2.1.1 4.02E-06
33872 60 H/Q None rs1275685669 0.1838 None gnomAD-4.0.0 6.84242E-07
33872 60 H/R None None 0.1838 None gnomAD-4.0.0 1.20032E-06
33873 61 R/G None None 0.4909 None gnomAD-4.0.0 1.59141E-06
33873 61 R/T None None 0.4909 None gnomAD-4.0.0 1.59144E-06
33875 63 I/V None rs1343609511 0.0923 None gnomAD-2.1.1 4.02E-06
33875 63 I/V None rs1343609511 0.0923 None gnomAD-4.0.0 2.05279E-06
33877 65 H/N None rs1690786587 0.4187 None gnomAD-4.0.0 6.84306E-07
33877 65 H/Q None rs755256603 0.4187 None gnomAD-2.1.1 4.02E-06
33877 65 H/Q None rs755256603 0.4187 None gnomAD-4.0.0 6.84314E-07
33877 65 H/Y None rs1690786587 0.4187 None gnomAD-4.0.0 6.84306E-07
33878 66 L/F None rs1235957959 0.1427 None gnomAD-4.0.0 6.8432E-07
33879 67 H/R None rs762414833 0.4229 None gnomAD-2.1.1 1.21E-05
33879 67 H/R None rs762414833 0.4229 None gnomAD-4.0.0 4.10608E-06
33879 67 H/Y None rs1247427318 0.4229 None gnomAD-2.1.1 3.18E-05
33879 67 H/Y None rs1247427318 0.4229 None gnomAD-3.1.2 1.31E-05
33879 67 H/Y None rs1247427318 0.4229 None gnomAD-4.0.0 6.40828E-06
33880 68 E/A None rs1690780313 0.2041 None gnomAD-4.0.0 1.36875E-06
33880 68 E/Q None None 0.2041 None gnomAD-4.0.0 1.20032E-06
33883 71 E/G None rs1329397426 0.48 None gnomAD-2.1.1 4.03E-06
33883 71 E/G None rs1329397426 0.48 None gnomAD-4.0.0 1.59281E-06
33883 71 E/K None None 0.48 None gnomAD-4.0.0 1.20032E-06
33884 72 S/R None rs758420542 0.3505 None gnomAD-2.1.1 4.03E-06
33884 72 S/R None rs758420542 0.3505 None gnomAD-4.0.0 1.59328E-06
33885 73 M/I None rs777177959 1.0024 None gnomAD-2.1.1 8.06E-06
33885 73 M/I None rs777177959 1.0024 None gnomAD-3.1.2 6.57E-06
33885 73 M/I None rs777177959 1.0024 None gnomAD-4.0.0 1.42606E-05
33885 73 M/T None None 1.0024 None gnomAD-4.0.0 1.20032E-06
33886 74 E/D None rs1171862038 0.6461 None gnomAD-4.0.0 1.36932E-06
33886 74 E/Q None None 0.6461 None gnomAD-4.0.0 2.40065E-06
33887 75 E/K None rs1455680068 0.2812 None gnomAD-2.1.1 1.61E-05
33887 75 E/K None rs1455680068 0.2812 None gnomAD-3.1.2 1.97E-05
33887 75 E/K None rs1455680068 0.2812 None gnomAD-4.0.0 4.34036E-06
33888 76 L/S None rs549890031 0.1533 None gnomAD-2.1.1 8.07E-06
33888 76 L/S None rs549890031 0.1533 None gnomAD-3.1.2 6.57E-06
33888 76 L/S None rs549890031 0.1533 None 1000 genomes 1.99681E-04
33888 76 L/S None rs549890031 0.1533 None gnomAD-4.0.0 1.86014E-06
33889 77 V/I None rs34924609 0.108 None gnomAD-2.1.1 3.11952E-03
33889 77 V/I None rs34924609 0.108 None gnomAD-3.1.2 3.52187E-03
33889 77 V/I None rs34924609 0.108 None 1000 genomes 1.19808E-03
33889 77 V/I None rs34924609 0.108 None gnomAD-4.0.0 5.39094E-03
33890 78 M/I None None 0.1109 None gnomAD-4.0.0 6.84854E-07
33890 78 M/L None rs754298968 0.1109 None gnomAD-2.1.1 1.21E-05
33890 78 M/L None rs754298968 0.1109 None gnomAD-4.0.0 6.37696E-06
33893 81 E/D None rs764487443 0.2091 None gnomAD-2.1.1 1.21E-05
33893 81 E/D None rs764487443 0.2091 None gnomAD-3.1.2 1.31E-05
33893 81 E/D None rs764487443 0.2091 None gnomAD-4.0.0 6.20361E-06
33893 81 E/K None None 0.2091 None gnomAD-4.0.0 3.60097E-06
33894 82 F/I None None 0.2715 None gnomAD-4.0.0 2.40065E-06
33895 83 I/L None rs759278414 0.1361 None gnomAD-4.0.0 6.85192E-07
33895 83 I/T None rs1575286728 0.1361 None gnomAD-3.1.2 6.57E-06
33895 83 I/T None rs1575286728 0.1361 None gnomAD-4.0.0 3.10224E-06
33895 83 I/V None rs759278414 0.1361 None gnomAD-2.1.1 4.05E-06
33895 83 I/V None rs759278414 0.1361 None gnomAD-3.1.2 6.57E-06
33895 83 I/V None rs759278414 0.1361 None gnomAD-4.0.0 1.86142E-06
33896 84 S/L None rs376813674 0.2965 None gnomAD-2.1.1 4.05E-06
33896 84 S/L None rs376813674 0.2965 None gnomAD-3.1.2 1.97E-05
33896 84 S/L None rs376813674 0.2965 None gnomAD-4.0.0 4.96493E-06
33897 85 G/V None None 0.1117 None gnomAD-4.0.0 1.20033E-06
33898 86 L/F None rs371930491 0.2331 None gnomAD-4.0.0 2.74189E-06
33898 86 L/P None rs1575286611 0.2331 None gnomAD-4.0.0 2.40067E-06
33899 87 D/G None rs794729560 0.0707 None gnomAD-2.1.1 4.06E-06
33899 87 D/G None rs794729560 0.0707 None gnomAD-4.0.0 3.1973E-06
33901 89 F/S None None 0.1208 None gnomAD-4.0.0 6.85716E-07
33902 90 E/K None rs762592218 0.1251 None gnomAD-2.1.1 3.18E-05
33902 90 E/K None rs762592218 0.1251 None gnomAD-3.1.2 6.57E-06
33902 90 E/K None rs762592218 0.1251 None gnomAD-4.0.0 2.48411E-06
33902 90 E/Q None rs762592218 0.1251 None gnomAD-2.1.1 4.06E-06
33902 90 E/Q None rs762592218 0.1251 None gnomAD-4.0.0 4.11508E-06
33903 91 R/C None rs772574722 0.1032 None gnomAD-2.1.1 4.69E-05
33903 91 R/C None rs772574722 0.1032 None gnomAD-3.1.2 3.94E-05
33903 91 R/C None rs772574722 0.1032 None gnomAD-4.0.0 2.60895E-05
33903 91 R/H None rs72629782 0.1032 None gnomAD-2.1.1 2.41827E-04
33903 91 R/H None rs72629782 0.1032 None gnomAD-3.1.2 1.90576E-04
33903 91 R/H None rs72629782 0.1032 None 1000 genomes 5.99042E-04
33903 91 R/H None rs72629782 0.1032 Other
Literature None
33903 91 R/H None rs72629782 0.1032 None gnomAD-4.0.0 9.25565E-05
33903 91 R/L None rs72629782 0.1032 None gnomAD-4.0.0 1.37218E-06
33903 91 R/S None None 0.1032 None gnomAD-3.1.2 6.57E-06
33903 91 R/S None None 0.1032 None gnomAD-4.0.0 2.48471E-06
33904 92 I/T None rs748029947 0.1105 None gnomAD-2.1.1 4.07E-06
33904 92 I/T None rs748029947 0.1105 None gnomAD-4.0.0 7.54692E-06
33904 92 I/V None None 0.1105 None gnomAD-4.0.0 1.08029E-05
33906 94 T/I None rs776487376 0.3378 None gnomAD-2.1.1 4.08E-06
33906 94 T/I None rs776487376 0.3378 None gnomAD-4.0.0 6.8625E-07
33906 94 T/P None None 0.3378 None gnomAD-4.0.0 1.20032E-06
33906 94 T/R None None 0.3378 None gnomAD-4.0.0 2.745E-06
33909 97 F/I None rs1015489403 0.2232 None gnomAD-3.1.2 6.57E-06
33909 97 F/I None rs1015489403 0.2232 None gnomAD-4.0.0 6.56944E-06
33909 97 F/V None rs1015489403 0.2232 None gnomAD-2.1.1 8.16E-06
33909 97 F/V None rs1015489403 0.2232 None gnomAD-3.1.2 6.57E-06
33909 97 F/V None rs1015489403 0.2232 None gnomAD-4.0.0 3.72865E-06
33910 98 E/K None rs943777958 0.6675 None gnomAD-2.1.1 2.53E-05
33910 98 E/K None rs943777958 0.6675 None gnomAD-3.1.2 1.31E-05
33910 98 E/K None rs943777958 0.6675 None gnomAD-4.0.0 2.29979E-05
33911 99 L/F None None 0.1352 None gnomAD-4.0.0 1.20032E-06
33912 100 N/S None rs1436628843 0.1511 None gnomAD-2.1.1 4.08E-06
33912 100 N/S None rs1436628843 0.1511 None gnomAD-3.1.2 6.57E-06
33912 100 N/S None rs1436628843 0.1511 None gnomAD-4.0.0 2.5788E-06
33913 101 E/G None None 0.1252 None gnomAD-4.0.0 2.40064E-06
33913 101 E/K None rs1376195366 0.1252 None gnomAD-2.1.1 4.09E-06
33913 101 E/K None rs1376195366 0.1252 None gnomAD-4.0.0 2.05995E-06
33913 101 E/Q None rs1376195366 0.1252 None gnomAD-4.0.0 6.86651E-07
33914 102 R/T None None 0.1897 None gnomAD-4.0.0 1.60466E-06
33915 103 E/K None rs1690736229 0.3137 None gnomAD-3.1.2 6.57E-06
33915 103 E/K None rs1690736229 0.3137 None gnomAD-4.0.0 6.57047E-06
33917 105 V/I None rs768379988 0.1026 None gnomAD-2.1.1 1.63E-05
33917 105 V/I None rs768379988 0.1026 None gnomAD-3.1.2 6.57E-06
33917 105 V/I None rs768379988 0.1026 None gnomAD-4.0.0 1.67863E-05
33917 105 V/L None rs768379988 0.1026 None gnomAD-4.0.0 6.86694E-07
33918 106 S/G None rs1363833448 0.3517 None gnomAD-2.1.1 3.18E-05
33918 106 S/G None rs1363833448 0.3517 None gnomAD-3.1.2 6.57E-06
33918 106 S/G None rs1363833448 0.3517 None gnomAD-4.0.0 6.5697E-06
33918 106 S/R None rs952080555 0.3517 None gnomAD-2.1.1 4.09E-06
33918 106 S/R None rs952080555 0.3517 None gnomAD-4.0.0 3.20916E-06
33919 107 Y/F None None 0.1352 None gnomAD-4.0.0 1.6046E-06
33921 109 H/Y None rs1410541718 0.3921 None gnomAD-2.1.1 4.09E-06
33921 109 H/Y None rs1410541718 0.3921 None gnomAD-4.0.0 2.05989E-06
33922 110 Q/H None rs55886356 0.1265 None gnomAD-2.1.1 7.06851E-03
33922 110 Q/H None rs55886356 0.1265 None gnomAD-3.1.2 7.54697E-03
33922 110 Q/H None rs55886356 0.1265 None 1000 genomes 4.59265E-03
33922 110 Q/H None rs55886356 0.1265 None gnomAD-4.0.0 1.00219E-02
33922 110 Q/R None None 0.1265 None gnomAD-4.0.0 6.86511E-07
33923 111 V/I None None 0.1486 None gnomAD-4.0.0 6.86481E-07
33924 112 C/Y None None 0.0785 None gnomAD-4.0.0 6.86374E-07
33925 113 E/G None None 0.1941 None gnomAD-4.0.0 6.86249E-07
33925 113 E/K None rs780205747 0.1941 None gnomAD-2.1.1 1.22E-05
33925 113 E/K None rs780205747 0.1941 None gnomAD-4.0.0 8.01333E-06
33928 116 Q/R None rs772264395 0.3332 None gnomAD-3.1.2 6.57E-06
33928 116 Q/R None rs772264395 0.3332 None gnomAD-4.0.0 1.41607E-05
33929 117 F/S None None 0.1975 None gnomAD-4.0.0 1.60075E-06
33930 118 L/S None None 0.1217 None gnomAD-4.0.0 2.40067E-06
33931 119 H/Y None rs746021065 0.1745 None gnomAD-2.1.1 4.07E-06
33931 119 H/Y None rs746021065 0.1745 None gnomAD-4.0.0 1.60008E-06
33933 121 H/N None None 0.3862 None gnomAD-4.0.0 1.59916E-06
33933 121 H/Q None rs757788117 0.3862 None gnomAD-2.1.1 4.06E-06
33933 121 H/Q None rs757788117 0.3862 None gnomAD-3.1.2 6.57E-06
33933 121 H/Q None rs757788117 0.3862 None gnomAD-4.0.0 6.56953E-06
33933 121 H/R None rs778857510 0.3862 None gnomAD-2.1.1 2.44E-05
33933 121 H/R None rs778857510 0.3862 None gnomAD-4.0.0 1.16545E-05
33934 122 N/S None None 0.433 None gnomAD-4.0.0 1.59831E-06
33935 123 I/M None rs76106451 0.0977 None gnomAD-2.1.1 2.16E-05
33935 123 I/M None rs76106451 0.0977 None gnomAD-3.1.2 1.97E-05
33935 123 I/M None rs76106451 0.0977 None 1000 genomes 1.99681E-04
33935 123 I/M None rs76106451 0.0977 None gnomAD-4.0.0 1.24114E-05
33935 123 I/T None rs778304667 0.0977 None gnomAD-2.1.1 4.05E-06
33935 123 I/T None rs778304667 0.0977 None gnomAD-4.0.0 1.37078E-06
33935 123 I/V None rs56376197 0.0977 None gnomAD-2.1.1 5.00068E-03
33935 123 I/V None rs56376197 0.0977 None gnomAD-3.1.2 1.49078E-02
33935 123 I/V None rs56376197 0.0977 None 1000 genomes 1.23802E-02
33935 123 I/V None rs56376197 0.0977 None gnomAD-4.0.0 2.72457E-03
33936 124 G/A None rs753079587 0.093 None gnomAD-2.1.1 1.08E-05
33936 124 G/A None rs753079587 0.093 None gnomAD-4.0.0 2.39871E-05
33936 124 G/E None None 0.093 None gnomAD-4.0.0 6.85346E-07
33937 125 H/N None rs1690708183 0.1431 None gnomAD-4.0.0 3.1943E-06
33939 127 D/E None None 0.2045 None gnomAD-4.0.0 1.59602E-06
33939 127 D/Y None None 0.2045 None gnomAD-4.0.0 1.59637E-06
33940 128 I/T None rs184789288 0.1666 None gnomAD-3.1.2 6.57E-06
33940 128 I/T None rs184789288 0.1666 None 1000 genomes 1.99681E-04
33940 128 I/T None rs184789288 0.1666 None gnomAD-4.0.0 6.56694E-06
33940 128 I/V None rs1354041065 0.1666 None gnomAD-2.1.1 4.05E-06
33940 128 I/V None rs1354041065 0.1666 None gnomAD-4.0.0 1.59572E-06
33941 129 R/T None rs762498249 0.1746 None gnomAD-2.1.1 1.08E-05
33941 129 R/T None rs762498249 0.1746 None gnomAD-3.1.2 2.63E-05
33941 129 R/T None rs762498249 0.1746 None gnomAD-4.0.0 7.70074E-06
33943 131 E/G None None 0.1426 None gnomAD-4.0.0 1.20032E-06
33944 132 N/S None rs2154136201 0.181 None gnomAD-4.0.0 2.73857E-06
33944 132 N/Y None rs1690702377 0.181 None gnomAD-4.0.0 4.78086E-06
33945 133 I/T None None 0.0997 None gnomAD-4.0.0 2.40064E-06
33945 133 I/V None rs1356126685 0.0997 None gnomAD-2.1.1 4.03E-06
33945 133 I/V None rs1356126685 0.0997 None gnomAD-4.0.0 6.37314E-06
33946 134 I/T None rs1559041085 0.0718 None gnomAD-4.0.0 1.20032E-06
33947 135 Y/C None rs557060548 0.1204 None gnomAD-2.1.1 4.03E-06
33947 135 Y/C None rs557060548 0.1204 None gnomAD-3.1.2 1.31E-05
33947 135 Y/C None rs557060548 0.1204 None 1000 genomes 1.99681E-04
33947 135 Y/C None rs557060548 0.1204 None gnomAD-4.0.0 2.47939E-06
33947 135 Y/S None rs557060548 0.1204 None gnomAD-4.0.0 1.36892E-06
33949 137 T/I None rs1559040993 0.3775 None gnomAD-2.1.1 3.18E-05
33949 137 T/I None rs1559040993 0.3775 None gnomAD-3.1.2 6.57E-06
33949 137 T/I None rs1559040993 0.3775 None gnomAD-4.0.0 6.57358E-06
33950 138 R/G None rs1013907314 0.6861 None gnomAD-3.1.2 6.57E-06
33950 138 R/G None rs1013907314 0.6861 None gnomAD-4.0.0 3.71867E-06
33951 139 R/S None rs761821275 0.8778 None gnomAD-2.1.1 2.01E-05
33951 139 R/S None rs761821275 0.8778 None gnomAD-4.0.0 6.36665E-06
33953 141 S/C None rs1575284524 0.5878 None gnomAD-4.0.0 9.54885E-06
33954 142 T/I None rs368172120 0.2798 None gnomAD-4.0.0 2.0527E-06
33954 142 T/N None rs368172120 0.2798 None gnomAD-2.1.1 4.02E-06
33956 144 K/E None None 0.1162 None gnomAD-4.0.0 6.84214E-07
33956 144 K/Q None rs1690684721 0.1162 None gnomAD-3.1.2 1.31E-05
33956 144 K/Q None rs1690684721 0.1162 None gnomAD-4.0.0 3.71808E-06
33957 145 I/L None None 0.1231 None gnomAD-4.0.0 1.59129E-06
33958 146 I/T None rs760516584 0.1146 None gnomAD-2.1.1 2.01E-05
33958 146 I/T None rs760516584 0.1146 None gnomAD-3.1.2 1.31E-05
33958 146 I/T None rs760516584 0.1146 None gnomAD-4.0.0 1.23937E-05
33959 147 E/K None rs886055224 0.1806 None gnomAD-2.1.1 4.02E-06
33959 147 E/K None rs886055224 0.1806 None gnomAD-3.1.2 2.63E-05
33959 147 E/K None rs886055224 0.1806 None gnomAD-4.0.0 1.42532E-05
33959 147 E/V None None 0.1806 None gnomAD-4.0.0 1.20032E-06
33960 148 F/L None rs1690680023 0.1817 None gnomAD-3.1.2 6.57E-06
33960 148 F/L None rs1690680023 0.1817 None gnomAD-4.0.0 6.57341E-06
33960 148 F/S None rs1690678952 0.1817 None gnomAD-3.1.2 6.57E-06
33960 148 F/S None rs1690678952 0.1817 None gnomAD-4.0.0 2.56202E-06
33961 149 G/A None None 0.1619 None gnomAD-4.0.0 6.84197E-07
33961 149 G/S None rs775256517 0.1619 None gnomAD-2.1.1 4.02E-06
33961 149 G/S None rs775256517 0.1619 None gnomAD-4.0.0 1.36841E-06
33961 149 G/V None rs1184245523 0.1619 None gnomAD-2.1.1 4.02E-06
33961 149 G/V None rs1184245523 0.1619 None gnomAD-4.0.0 6.84197E-07
33962 150 Q/R None None 0.1671 None gnomAD-4.0.0 1.59119E-06
33964 152 R/C None rs779064623 0.1563 None gnomAD-2.1.1 8.04E-06
33964 152 R/C None rs779064623 0.1563 None gnomAD-3.1.2 1.97E-05
33964 152 R/C None rs779064623 0.1563 None gnomAD-4.0.0 1.23943E-05
33964 152 R/G None rs779064623 0.1563 None gnomAD-2.1.1 4.02E-06
33964 152 R/G None rs779064623 0.1563 None gnomAD-3.1.2 6.57E-06
33964 152 R/G None rs779064623 0.1563 None gnomAD-4.0.0 6.57471E-06
33964 152 R/H None rs55669553 0.1563 None gnomAD-2.1.1 3.45492E-03
33964 152 R/H None rs55669553 0.1563 None gnomAD-3.1.2 1.77468E-03
33964 152 R/H None rs55669553 0.1563 None 1000 genomes 5.99042E-03
33964 152 R/H None rs55669553 0.1563 None gnomAD-4.0.0 2.20038E-03
33964 152 R/L None None 0.1563 None gnomAD-4.0.0 1.36841E-06
33964 152 R/S None None 0.1563 None gnomAD-2.1.1 5.71E-05
33964 152 R/S None None 0.1563 None gnomAD-3.1.2 3.29E-05
33964 152 R/S None None 0.1563 None gnomAD-4.0.0 8.42812E-05
33965 153 Q/H None None 0.4818 None gnomAD-4.0.0 1.59124E-06
33965 153 Q/R None None 0.4818 None gnomAD-4.0.0 1.20032E-06
33967 155 K/I None None 0.5697 None gnomAD-4.0.0 1.59121E-06
33969 157 G/E None None 0.2385 None gnomAD-4.0.0 1.20032E-06
33970 158 D/N None rs749832500 0.485 None gnomAD-2.1.1 1.21E-05
33970 158 D/N None rs749832500 0.485 None gnomAD-3.1.2 6.57E-06
33970 158 D/N None rs749832500 0.485 None gnomAD-4.0.0 4.33801E-06
33971 159 N/D None None 0.5984 None gnomAD-4.0.0 1.59125E-06
33972 160 F/S None None 0.2247 None gnomAD-4.0.0 1.59127E-06
33976 164 F/L None None 0.1396 None gnomAD-4.0.0 1.59127E-06
33976 164 F/S None None 0.1396 None gnomAD-4.0.0 6.84211E-07
33976 164 F/Y None None 0.1396 None gnomAD-4.0.0 1.36842E-06
33977 165 T/A None rs1434947550 0.6621 None gnomAD-3.1.2 1.31E-05
33977 165 T/A None rs1434947550 0.6621 None gnomAD-4.0.0 3.04476E-06
33977 165 T/I None None 0.6621 None gnomAD-4.0.0 3.1826E-06
33978 166 A/T None rs756665400 0.1755 None gnomAD-2.1.1 4.02E-06
33978 166 A/T None rs756665400 0.1755 None gnomAD-4.0.0 1.36847E-06
33979 167 P/R None rs200238877 0.2558 None gnomAD-2.1.1 2.99908E-04
33979 167 P/R None rs200238877 0.2558 None gnomAD-3.1.2 8.67451E-04
33979 167 P/R None rs200238877 0.2558 None 1000 genomes 9.98403E-04
33979 167 P/R None rs200238877 0.2558 None gnomAD-4.0.0 1.67309E-04
33980 168 E/D None rs2154136129 0.1045 None gnomAD-3.1.2 6.57E-06
33980 168 E/D None rs2154136129 0.1045 None gnomAD-4.0.0 6.56538E-06
33980 168 E/G None rs1559040103 0.1045 None gnomAD-2.1.1 4.02E-06
33980 168 E/G None rs1559040103 0.1045 None gnomAD-4.0.0 1.59129E-06
33980 168 E/K None None 0.1045 None gnomAD-4.0.0 6.84228E-07
33980 168 E/Q None None 0.1045 None gnomAD-4.0.0 2.05268E-06
33981 169 Y/H None rs781686886 0.099 None gnomAD-2.1.1 1.21E-05
33981 169 Y/H None rs781686886 0.099 None gnomAD-3.1.2 3.29E-05
33981 169 Y/H None rs781686886 0.099 None gnomAD-4.0.0 9.9151E-06
33982 170 Y/C None rs888342815 0.1225 None gnomAD-3.1.2 6.57E-06
33982 170 Y/C None rs888342815 0.1225 None gnomAD-4.0.0 6.57047E-06
33982 170 Y/D None rs1289613235 0.1225 None gnomAD-2.1.1 4.02E-06
33982 170 Y/D None rs1289613235 0.1225 None gnomAD-4.0.0 6.84224E-07
33982 170 Y/F None None 0.1225 None gnomAD-4.0.0 3.18277E-06
33982 170 Y/H None rs1289613235 0.1225 None gnomAD-2.1.1 4.02E-06
33982 170 Y/H None rs1289613235 0.1225 None gnomAD-4.0.0 1.36845E-06
33984 172 P/H None None 0.1002 None gnomAD-4.0.0 1.36852E-06
33984 172 P/L None rs1392647027 0.1002 None gnomAD-2.1.1 4.02E-06
33984 172 P/L None rs1392647027 0.1002 None gnomAD-4.0.0 1.36852E-06
33984 172 P/R None None 0.1002 None gnomAD-4.0.0 6.84258E-07
33984 172 P/S None None 0.1002 None gnomAD-4.0.0 3.18299E-06
33985 173 E/Q None rs534613934 0.0751 None gnomAD-2.1.1 4.64E-05
33985 173 E/Q None rs534613934 0.0751 None gnomAD-3.1.2 5.91E-05
33985 173 E/Q None rs534613934 0.0751 None 1000 genomes 3.99361E-04
33985 173 E/Q None rs534613934 0.0751 None gnomAD-4.0.0 4.48352E-05
33986 174 V/D None None 0.1229 None gnomAD-4.0.0 3.60097E-06
33986 174 V/I None None 0.1229 None gnomAD-4.0.0 1.59164E-06
33987 175 H/N None rs1690646810 0.186 None gnomAD-4.0.0 1.59176E-06
33987 175 H/R None None 0.186 None gnomAD-4.0.0 1.59172E-06
33987 175 H/Y None rs1690646810 0.186 None gnomAD-3.1.2 6.57E-06
33987 175 H/Y None rs1690646810 0.186 None gnomAD-4.0.0 6.57117E-06
33988 176 Q/H None rs1690644273 0.3562 None gnomAD-3.1.2 6.57E-06
33988 176 Q/H None rs1690644273 0.3562 None gnomAD-4.0.0 6.56961E-06
33989 177 H/Y None rs1462346829 0.4872 None gnomAD-2.1.1 8.04E-06
33989 177 H/Y None rs1462346829 0.4872 None gnomAD-4.0.0 4.77509E-06
33991 179 V/F None rs1423532628 0.2513 None gnomAD-2.1.1 8.04E-06
33991 179 V/F None rs1423532628 0.2513 None gnomAD-4.0.0 4.77544E-06
33992 180 V/D None None 0.1046 None gnomAD-4.0.0 1.20032E-06
33992 180 V/I None None 0.1046 None gnomAD-4.0.0 1.20032E-06
33993 181 S/N None None 0.2285 None gnomAD-4.0.0 1.59193E-06
33994 182 T/K None rs1419643205 0.2572 None gnomAD-2.1.1 4.02E-06
33994 182 T/K None rs1419643205 0.2572 None gnomAD-3.1.2 6.57E-06
33994 182 T/K None rs1419643205 0.2572 None gnomAD-4.0.0 8.96875E-06
33996 184 T/I None None 0.1288 None gnomAD-4.0.0 1.59158E-06
33997 185 D/N None None 0.1227 None gnomAD-4.0.0 1.59169E-06
33998 186 M/T None rs1559039438 0.0876 None gnomAD-4.0.0 1.59151E-06
33998 186 M/V None None 0.0876 None gnomAD-4.0.0 1.59161E-06
33999 187 W/C None rs764821435 0.0857 None gnomAD-2.1.1 1.21E-05
33999 187 W/C None rs764821435 0.0857 None gnomAD-4.0.0 4.77458E-06
33999 187 W/R None None 0.0857 None gnomAD-4.0.0 1.20032E-06
33999 187 W/S None None 0.0857 None gnomAD-4.0.0 6.84273E-07
34000 188 S/T None rs1452192430 0.1021 None gnomAD-2.1.1 4.02E-06
34000 188 S/T None rs1452192430 0.1021 None gnomAD-4.0.0 1.59151E-06
34001 189 L/F None rs1225450640 0.1489 None gnomAD-3.1.2 6.57E-06
34001 189 L/F None rs1225450640 0.1489 None gnomAD-4.0.0 2.02983E-06
34003 191 T/P None None 0.0764 None gnomAD-4.0.0 1.36845E-06
34004 192 L/P None None 0.1182 None gnomAD-4.0.0 1.36845E-06
34004 192 L/Q None rs727504897 0.1182 None gnomAD-2.1.1 8.04E-06
34004 192 L/Q None rs727504897 0.1182 None gnomAD-4.0.0 1.36845E-05
34004 192 L/V None None 0.1182 None gnomAD-4.0.0 1.20032E-06
34006 194 Y/H None None 0.08 None gnomAD-4.0.0 1.59124E-06
34007 195 V/A None rs370702360 0.0727 None gnomAD-2.1.1 4.02E-06
34007 195 V/A None rs370702360 0.0727 None gnomAD-3.1.2 6.57E-06
34007 195 V/A None rs370702360 0.0727 None gnomAD-4.0.0 6.57056E-06
34009 197 L/F None rs760604476 0.1409 None gnomAD-2.1.1 8.04E-06
34009 197 L/F None rs760604476 0.1409 None gnomAD-3.1.2 6.57E-06
34009 197 L/F None rs760604476 0.1409 None gnomAD-4.0.0 2.72657E-05
34010 198 S/N None None 0.0871 None gnomAD-4.0.0 2.73676E-06
34010 198 S/R None rs727503534 0.0871 None gnomAD-2.1.1 2.41E-05
34010 198 S/R None rs727503534 0.0871 None gnomAD-3.1.2 6.57E-06
34010 198 S/R None rs727503534 0.0871 None gnomAD-4.0.0 1.859E-06
34011 199 G/S None None 0.0938 None gnomAD-4.0.0 1.20032E-06
34012 200 I/S None None 0.2133 None gnomAD-4.0.0 4.10515E-06
34012 200 I/T None None 0.2133 None gnomAD-4.0.0 1.36838E-06
34014 202 P/L None rs1369028729 0.0978 None gnomAD-2.1.1 4.02E-06
34014 202 P/L None rs1369028729 0.0978 None gnomAD-4.0.0 1.59121E-06
34014 202 P/S None rs775271604 0.0978 None gnomAD-2.1.1 8.04E-06
34014 202 P/S None rs775271604 0.0978 None gnomAD-4.0.0 1.36839E-06
34014 202 P/T None rs775271604 0.0978 None gnomAD-2.1.1 8.04E-06
34014 202 P/T None rs775271604 0.0978 None gnomAD-3.1.2 1.31E-05
34014 202 P/T None rs775271604 0.0978 None gnomAD-4.0.0 1.48724E-05
34015 203 F/L None None 0.087 None gnomAD-4.0.0 1.20032E-06
34018 206 E/A None None 1.088 None gnomAD-4.0.0 1.20032E-06
34018 206 E/D None None 1.088 None gnomAD-4.0.0 1.59121E-06
34019 207 T/I None None 0.4709 None gnomAD-4.0.0 1.20032E-06
34020 208 N/I None None 0.8214 None gnomAD-4.0.0 1.59122E-06
34021 209 Q/R None None 0.4555 None gnomAD-4.0.0 2.40064E-06
34022 210 Q/R None None 0.3249 None gnomAD-4.0.0 2.73679E-06
34023 211 I/N None rs1254337927 0.14 None gnomAD-2.1.1 3.18E-05
34023 211 I/N None rs1254337927 0.14 None gnomAD-3.1.2 6.57E-06
34023 211 I/N None rs1254337927 0.14 None gnomAD-4.0.0 2.02987E-06
34024 212 I/F None None 0.2053 None gnomAD-4.0.0 1.20037E-06
34024 212 I/M None rs1296908123 0.2053 None gnomAD-2.1.1 4.02E-06
34024 212 I/M None rs1296908123 0.2053 None gnomAD-4.0.0 6.84203E-07
34024 212 I/T None rs779963495 0.2053 None gnomAD-2.1.1 4.02E-06
34024 212 I/T None rs779963495 0.2053 None gnomAD-4.0.0 4.10523E-06
34025 213 E/G None None 0.2784 None gnomAD-4.0.0 1.20032E-06
34025 213 E/K None None 0.2784 None gnomAD-4.0.0 1.36844E-06
34025 213 E/Q None None 0.2784 None gnomAD-4.0.0 2.05267E-06
34026 214 N/S None rs759826620 0.2198 None gnomAD-2.1.1 4.02E-06
34026 214 N/S None rs759826620 0.2198 None gnomAD-4.0.0 1.3684E-06
34027 215 I/V None rs1690594509 0.0473 None gnomAD-3.1.2 6.57E-06
34027 215 I/V None rs1690594509 0.0473 None gnomAD-4.0.0 6.56935E-06
34028 216 M/L None None 0.2214 None gnomAD-4.0.0 1.20045E-06
34030 218 A/P None None 0.1621 None gnomAD-4.0.0 1.59126E-06
34032 220 Y/C None rs1160872040 0.2042 None gnomAD-3.1.2 6.57E-06
34032 220 Y/C None rs1160872040 0.2042 None gnomAD-4.0.0 6.56927E-06
34032 220 Y/H None None 0.2042 None gnomAD-4.0.0 1.59129E-06
34033 221 T/S None None 0.7786 None gnomAD-4.0.0 1.59132E-06
34035 223 D/E None rs370647845 0.2564 None gnomAD-2.1.1 1.43E-05
34035 223 D/E None rs370647845 0.2564 None gnomAD-3.1.2 1.97E-05
34035 223 D/E None rs370647845 0.2564 None gnomAD-4.0.0 1.61122E-05
34035 223 D/N None rs144963736 0.2564 None gnomAD-2.1.1 9.46118E-04
34035 223 D/N None rs144963736 0.2564 None gnomAD-3.1.2 2.52333E-03
34035 223 D/N None rs144963736 0.2564 None 1000 genomes 2.99521E-03
34035 223 D/N None rs144963736 0.2564 None gnomAD-4.0.0 4.97589E-04
34035 223 D/Y None rs144963736 0.2564 None gnomAD-2.1.1 3.18E-05
34035 223 D/Y None rs144963736 0.2564 None gnomAD-3.1.2 6.57E-06
34035 223 D/Y None rs144963736 0.2564 None gnomAD-4.0.0 6.57108E-06
34036 224 E/K None None 0.9566 None gnomAD-4.0.0 2.7369E-06
34037 225 E/A None None 0.6584 None gnomAD-4.0.0 1.20032E-06
34038 226 A/P None None 0.1471 None gnomAD-4.0.0 6.84246E-07
34038 226 A/T None rs1690579265 0.1471 None gnomAD-4.0.0 6.84246E-07
34039 227 F/L None rs1178807411 0.1168 None gnomAD-2.1.1 4.02E-06
34039 227 F/L None rs1178807411 0.1168 None gnomAD-4.0.0 1.59145E-06
34039 227 F/S None rs1553496582 0.1168 None gnomAD-3.1.2 6.57E-06
34039 227 F/S None rs1553496582 0.1168 None gnomAD-4.0.0 1.36337E-05
34041 229 E/G None rs1255397275 0.5253 None gnomAD-2.1.1 4.02E-06
34041 229 E/G None rs1255397275 0.5253 None gnomAD-4.0.0 4.10553E-06
34041 229 E/K None rs377600383 0.5253 None gnomAD-2.1.1 1.178E-04
34041 229 E/K None rs377600383 0.5253 None gnomAD-3.1.2 1.37951E-04
34041 229 E/K None rs377600383 0.5253 None gnomAD-4.0.0 7.49853E-05
34042 230 I/L None rs745822255 0.2031 None gnomAD-2.1.1 1.21E-05
34042 230 I/L None rs745822255 0.2031 None gnomAD-4.0.0 7.52681E-06
34042 230 I/T None rs373173599 0.2031 None gnomAD-2.1.1 7.14E-06
34042 230 I/T None rs373173599 0.2031 None gnomAD-3.1.2 2.63E-05
34042 230 I/T None rs373173599 0.2031 None gnomAD-4.0.0 8.05622E-06
34043 231 S/G None None 0.1799 None gnomAD-4.0.0 4.10558E-06
34044 232 I/L None rs1690568887 0.9065 None gnomAD-4.0.0 6.8427E-06
34044 232 I/S None None 0.9065 None gnomAD-4.0.0 6.84277E-07
34044 232 I/T None rs1349271119 0.9065 None gnomAD-4.0.0 1.36855E-06
34044 232 I/V None rs1690568887 0.9065 None gnomAD-3.1.2 6.57E-06
34044 232 I/V None rs1690568887 0.9065 None gnomAD-4.0.0 4.33795E-06
34045 233 E/D None None 0.3643 None gnomAD-4.0.0 1.59171E-06
34046 234 A/S None None 0.0597 None gnomAD-4.0.0 1.59178E-06
34046 234 A/V None None 0.0597 None gnomAD-4.0.0 1.20032E-06
34047 235 M/I None None 0.167 None gnomAD-4.0.0 1.5919E-06
34047 235 M/R None rs745563787 0.167 None gnomAD-2.1.1 4.02E-06
34047 235 M/R None rs745563787 0.167 None gnomAD-4.0.0 1.59183E-06
34047 235 M/T None rs745563787 0.167 None gnomAD-2.1.1 4.02E-06
34047 235 M/T None rs745563787 0.167 None gnomAD-4.0.0 1.59183E-06
34047 235 M/V None rs755244797 0.167 None gnomAD-2.1.1 8.04E-06
34047 235 M/V None rs755244797 0.167 None gnomAD-4.0.0 9.55079E-06
34048 236 D/G None None 0.1958 None gnomAD-4.0.0 6.84318E-07
34048 236 D/N None rs778467259 0.1958 None gnomAD-2.1.1 8.04E-06
34048 236 D/N None rs778467259 0.1958 None gnomAD-4.0.0 3.18391E-06
34048 236 D/Y None rs778467259 0.1958 None gnomAD-2.1.1 3.18E-05
34048 236 D/Y None rs778467259 0.1958 None gnomAD-3.1.2 6.57E-06
34048 236 D/Y None rs778467259 0.1958 None gnomAD-4.0.0 6.56918E-06
34050 238 V/I None rs1575280335 0.082 None gnomAD-4.0.0 7.52809E-06
34051 239 D/E None None 0.5045 None gnomAD-4.0.0 6.84435E-07
34051 239 D/Y None None 0.5045 None gnomAD-4.0.0 1.59237E-06
34052 240 R/G None rs756924372 0.0979 None gnomAD-2.1.1 4.02E-06
34052 240 R/G None rs756924372 0.0979 None gnomAD-4.0.0 1.36891E-06
34052 240 R/Q None rs369245991 0.0979 None gnomAD-2.1.1 3.62E-05
34052 240 R/Q None rs369245991 0.0979 None gnomAD-3.1.2 1.97E-05
34052 240 R/Q None rs369245991 0.0979 None gnomAD-4.0.0 3.90516E-05
34052 240 R/W None rs756924372 0.0979 None gnomAD-4.0.0 4.10673E-06
34055 243 V/A None rs752582515 0.1994 None gnomAD-2.1.1 1.40936E-04
34055 243 V/A None rs752582515 0.1994 None gnomAD-3.1.2 6.57E-06
34055 243 V/A None rs752582515 0.1994 None gnomAD-4.0.0 2.78988E-05
34055 243 V/L None None 0.1994 None gnomAD-4.0.0 1.5929E-06
34057 245 E/A None rs1418716706 0.5278 None gnomAD-2.1.1 4.03E-06
34057 245 E/A None rs1418716706 0.5278 None gnomAD-4.0.0 1.59332E-06
34057 245 E/D None rs767376871 0.5278 None gnomAD-2.1.1 4.03E-06
34057 245 E/D None rs767376871 0.5278 None gnomAD-3.1.2 6.57E-06
34057 245 E/D None rs767376871 0.5278 None gnomAD-4.0.0 6.57004E-06
34057 245 E/K None rs1173824558 0.5278 None gnomAD-2.1.1 4.03E-06
34057 245 E/K None rs1173824558 0.5278 None gnomAD-4.0.0 1.59339E-06
34058 246 R/K None rs886039007 0.2317 None gnomAD-2.1.1 3.18E-05
34058 246 R/K None rs886039007 0.2317 None gnomAD-3.1.2 4.6E-05
34058 246 R/K None rs886039007 0.2317 None gnomAD-4.0.0 8.06061E-06
34059 247 K/R None rs1690541706 0.5595 None gnomAD-4.0.0 6.84671E-07
34060 248 S/P None rs373945220 0.3487 None gnomAD-2.1.1 4.03E-06
34060 248 S/P None rs373945220 0.3487 None gnomAD-3.1.2 6.57E-06
34061 249 R/C None rs879220772 0.0936 None gnomAD-3.1.2 2.63E-05
34061 249 R/C None rs879220772 0.0936 None gnomAD-4.0.0 8.98247E-06
34061 249 R/H None rs774174825 0.0936 None gnomAD-2.1.1 8.07E-06
34061 249 R/H None rs774174825 0.0936 None gnomAD-4.0.0 1.02726E-05
34061 249 R/L None None 0.0936 None gnomAD-4.0.0 6.84839E-07
34062 250 M/K None None 0.0954 None gnomAD-4.0.0 6.84852E-07
34062 250 M/L None None 0.0954 None gnomAD-4.0.0 1.59473E-06
34062 250 M/R None rs1690534459 0.0954 None gnomAD-4.0.0 4.10911E-06
34062 250 M/T None rs1690534459 0.0954 None gnomAD-4.0.0 6.84852E-07
34063 251 T/I None None 0.3751 None gnomAD-4.0.0 1.59526E-06
34064 252 A/T None rs200237973 0.1092 None gnomAD-2.1.1 1.72057E-04
34064 252 A/T None rs200237973 0.1092 None gnomAD-3.1.2 2.69343E-04
34064 252 A/T None rs200237973 0.1092 None gnomAD-4.0.0 3.65373E-04
34064 252 A/V None rs149921607 0.1092 None gnomAD-2.1.1 6.37E-05
34064 252 A/V None rs149921607 0.1092 None gnomAD-3.1.2 4.6E-05
34064 252 A/V None rs149921607 0.1092 None 1000 genomes 1.99681E-04
34064 252 A/V None rs149921607 0.1092 None gnomAD-4.0.0 6.82341E-06
34065 253 S/L None rs769936820 0.3916 None gnomAD-2.1.1 4.04E-06
34065 253 S/L None rs769936820 0.3916 None gnomAD-3.1.2 6.57E-06
34065 253 S/L None rs769936820 0.3916 None gnomAD-4.0.0 7.70537E-06
34065 253 S/P None rs1690528772 0.3916 None gnomAD-4.0.0 1.37007E-06
34066 254 E/A None None 0.2567 None gnomAD-4.0.0 1.20032E-06
34067 255 A/D None None 0.0784 None gnomAD-4.0.0 2.74112E-06
34067 255 A/G None rs769172246 0.0784 None gnomAD-4.0.0 6.85278E-07
34067 255 A/P None rs776959962 0.0784 None gnomAD-4.0.0 1.59688E-06
34067 255 A/T None rs776959962 0.0784 None gnomAD-2.1.1 4.05E-06
34067 255 A/T None rs776959962 0.0784 None gnomAD-4.0.0 1.59688E-06
34068 256 L/R None rs747379775 0.1681 None gnomAD-2.1.1 4.05E-06
34068 256 L/R None rs747379775 0.1681 None gnomAD-4.0.0 1.59707E-06
34069 257 Q/R None rs780466011 0.3983 None gnomAD-2.1.1 8.1E-06
34069 257 Q/R None rs780466011 0.3983 None gnomAD-4.0.0 2.05596E-06
34070 258 H/Q None None 0.0969 None gnomAD-4.0.0 6.8546E-07
34072 260 W/R None rs375159973 0.1083 None gnomAD-2.1.1 8.11E-06
34072 260 W/R None rs375159973 0.1083 None gnomAD-3.1.2 1.97E-05
34072 260 W/R None rs375159973 0.1083 CM
MmD-HD
Literature None
34072 260 W/R None rs375159973 0.1083 None gnomAD-4.0.0 2.17264E-05
34074 262 K/N None rs748885900 0.4649 None gnomAD-2.1.1 4.06E-06
34074 262 K/N None rs748885900 0.4649 None gnomAD-3.1.2 6.57E-06
34074 262 K/N None rs748885900 0.4649 None gnomAD-4.0.0 2.57237E-06
34074 262 K/R None None 0.4649 None gnomAD-4.0.0 6.8564E-07
34075 263 Q/E None rs777288641 0.2607 None gnomAD-2.1.1 4.07E-06
34077 265 I/M None None 0.3218 None gnomAD-4.0.0 6.85709E-07
34077 265 I/T None rs1290306844 0.3218 None gnomAD-2.1.1 4.07E-06
34077 265 I/T None rs1290306844 0.3218 None gnomAD-4.0.0 2.05707E-06
34078 266 E/D None rs1043486033 0.4887 None gnomAD-2.1.1 4.07E-06
34078 266 E/D None rs1043486033 0.4887 None gnomAD-4.0.0 1.37137E-06
34078 266 E/K None rs1454101167 0.4887 None gnomAD-2.1.1 4.07E-06
34078 266 E/K None rs1454101167 0.4887 None gnomAD-4.0.0 1.59958E-06
34078 266 E/Q None rs1454101167 0.4887 None gnomAD-3.1.2 6.57E-06
34078 266 E/Q None rs1454101167 0.4887 None gnomAD-4.0.0 6.57039E-06
34079 267 R/K None rs755581166 0.7196 None gnomAD-2.1.1 8.13E-06
34079 267 R/K None rs755581166 0.7196 None gnomAD-4.0.0 2.05707E-06
34080 268 V/D None None 0.1099 None gnomAD-4.0.0 2.40065E-06
34080 268 V/L None rs1467698015 0.1099 None gnomAD-2.1.1 1.44E-05
34080 268 V/L None rs1467698015 0.1099 None gnomAD-3.1.2 1.97E-05
34080 268 V/L None rs1467698015 0.1099 None gnomAD-4.0.0 7.71686E-06
34081 269 S/G None rs752173730 0.2952 None gnomAD-2.1.1 8.13E-06
34081 269 S/G None rs752173730 0.2952 None gnomAD-4.0.0 1.59871E-06
34081 269 S/N None None 0.2952 None gnomAD-4.0.0 6.85606E-07
34082 270 T/I None None 0.5661 None gnomAD-4.0.0 1.37101E-06
34082 270 T/N None rs1375940766 0.5661 None gnomAD-2.1.1 3.19E-05
34082 270 T/N None rs1375940766 0.5661 None gnomAD-3.1.2 6.57E-06
34082 270 T/N None rs1375940766 0.5661 None gnomAD-4.0.0 2.48303E-06
34083 271 K/R None None 0.5302 None gnomAD-4.0.0 1.20032E-06
34084 272 V/A None None 0.4351 None gnomAD-4.0.0 1.59754E-06
34084 272 V/I None rs767405843 0.4351 None gnomAD-2.1.1 4.06E-06
34084 272 V/I None rs767405843 0.4351 None gnomAD-4.0.0 3.195E-06
34085 273 I/M None rs1188731609 0.1815 None gnomAD-2.1.1 4.06E-06
34085 273 I/M None rs1188731609 0.1815 None gnomAD-4.0.0 6.85299E-07
34085 273 I/T None None 0.1815 None gnomAD-4.0.0 1.20032E-06
34086 274 R/I None None 0.9381 None gnomAD-4.0.0 6.85191E-07
34086 274 R/K None None 0.9381 None gnomAD-4.0.0 6.85191E-07
34086 274 R/T None rs569650065 0.9381 None gnomAD-2.1.1 1.22E-05
34086 274 R/T None rs569650065 0.9381 None gnomAD-3.1.2 3.29E-05
34086 274 R/T None rs569650065 0.9381 None 1000 genomes 1.99681E-04
34086 274 R/T None rs569650065 0.9381 None gnomAD-4.0.0 4.96362E-06
34087 275 T/A None None 0.2284 None gnomAD-4.0.0 1.59652E-06
34087 275 T/I None None 0.2284 None gnomAD-4.0.0 6.85123E-07
34087 275 T/K None None 0.2284 None gnomAD-4.0.0 6.85123E-07
34090 278 H/Q None None 0.1057 None gnomAD-4.0.0 1.20032E-06
34090 278 H/Y None None 0.1057 None gnomAD-4.0.0 6.84947E-07
34091 279 R/Q None rs763708375 0.351 None gnomAD-2.1.1 3.23E-05
34091 279 R/Q None rs763708375 0.351 None gnomAD-3.1.2 3.94E-05
34091 279 R/Q None rs763708375 0.351 None gnomAD-4.0.0 7.07026E-05
34091 279 R/W None rs140319117 0.351 None gnomAD-2.1.1 1.01552E-03
34091 279 R/W None rs140319117 0.351 None gnomAD-3.1.2 9.7976E-04
34091 279 R/W None rs140319117 0.351 None 1000 genomes 7.98722E-04
34091 279 R/W None rs140319117 0.351 HMERF
Literature None
34091 279 R/W None rs140319117 0.351 None gnomAD-4.0.0 1.37625E-03
34092 280 R/C None rs765435004 0.6654 None gnomAD-2.1.1 2.02E-05
34092 280 R/C None rs765435004 0.6654 None gnomAD-3.1.2 6.57E-06
34092 280 R/C None rs765435004 0.6654 None gnomAD-4.0.0 6.82188E-06
34092 280 R/H None rs757918924 0.6654 None gnomAD-2.1.1 5.66E-05
34092 280 R/H None rs757918924 0.6654 None gnomAD-3.1.2 3.94E-05
34092 280 R/H None rs757918924 0.6654 None gnomAD-4.0.0 9.36361E-05
34094 282 Y/H None None 0.1341 None gnomAD-4.0.0 1.59316E-06
34094 282 Y/S None rs1414440071 0.1341 None gnomAD-2.1.1 3.19E-05
34094 282 Y/S None rs1414440071 0.1341 None gnomAD-3.1.2 6.57E-06
34094 282 Y/S None rs1414440071 0.1341 None gnomAD-4.0.0 1.30194E-05
34095 283 H/P None rs1437743604 0.7825 None gnomAD-3.1.2 1.97E-05
34095 283 H/P None rs1437743604 0.7825 None gnomAD-4.0.0 5.12826E-06
34096 284 T/I None rs375002174 0.4396 None gnomAD-2.1.1 8.07E-06
34096 284 T/I None rs375002174 0.4396 None gnomAD-3.1.2 6.57E-06
34096 284 T/I None rs375002174 0.4396 None gnomAD-4.0.0 6.19917E-06
34096 284 T/N None rs375002174 0.4396 None gnomAD-2.1.1 5.24E-05
34096 284 T/N None rs375002174 0.4396 None gnomAD-3.1.2 5.26E-05
34096 284 T/N None rs375002174 0.4396 None gnomAD-4.0.0 3.84349E-05
34097 285 L/M None rs775734528 0.1898 None gnomAD-2.1.1 4.03E-06
34097 285 L/M None rs775734528 0.1898 None gnomAD-4.0.0 1.59257E-06
34097 285 L/P None rs1324222809 0.1898 None gnomAD-2.1.1 8.06E-06
34097 285 L/P None rs1324222809 0.1898 None gnomAD-4.0.0 3.42212E-06
34097 285 L/Q None None 0.1898 None gnomAD-4.0.0 6.84423E-07
34097 285 L/R None None 0.1898 None gnomAD-4.0.0 1.36885E-06
34098 286 I/F None None 0.2621 None gnomAD-4.0.0 1.59223E-06
34098 286 I/T None rs1480810435 0.2621 None gnomAD-3.1.2 6.57E-06
34098 286 I/T None rs1480810435 0.2621 None gnomAD-4.0.0 6.57289E-06
34099 287 K/N None rs772381654 0.7371 None gnomAD-2.1.1 4.03E-06
34099 287 K/N None rs772381654 0.7371 None gnomAD-4.0.0 1.592E-06
34099 287 K/R None None 0.7371 None gnomAD-4.0.0 1.3687E-06
34101 289 D/N None None 1.0711 None gnomAD-4.0.0 1.5918E-06
34102 290 L/R None rs748971754 0.4628 None gnomAD-2.1.1 2.82E-05
34102 290 L/R None rs748971754 0.4628 None gnomAD-3.1.2 6.57E-06
34102 290 L/R None rs748971754 0.4628 None gnomAD-4.0.0 6.40649E-06
34103 291 N/D None None 0.9961 None gnomAD-4.0.0 6.84271E-07
34103 291 N/H None None 0.9961 None gnomAD-4.0.0 1.36854E-06
34103 291 N/I None rs557630306 0.9961 None gnomAD-2.1.1 2.86E-05
34103 291 N/I None rs557630306 0.9961 None gnomAD-3.1.2 2.63E-05
34103 291 N/I None rs557630306 0.9961 None 1000 genomes 1.99681E-04
34103 291 N/I None rs557630306 0.9961 None gnomAD-4.0.0 5.57726E-06
34103 291 N/S None rs557630306 0.9961 None gnomAD-2.1.1 4.02E-06
34103 291 N/S None rs557630306 0.9961 None gnomAD-3.1.2 6.57E-06
34103 291 N/S None rs557630306 0.9961 None gnomAD-4.0.0 1.23939E-06
34104 292 M/I None None 0.2276 None gnomAD-4.0.0 2.73697E-06
34104 292 M/R None rs769416699 0.2276 None gnomAD-2.1.1 4.02E-06
34104 292 M/R None rs769416699 0.2276 None gnomAD-4.0.0 6.84235E-07
34104 292 M/T None rs769416699 0.2276 None gnomAD-4.0.0 6.84235E-07
34104 292 M/V None rs1559035751 0.2276 None gnomAD-2.1.1 4.02E-06
34104 292 M/V None rs1559035751 0.2276 None gnomAD-4.0.0 2.05274E-06
34105 293 V/D None rs747672013 0.5622 None gnomAD-2.1.1 4.02E-06
34105 293 V/D None rs747672013 0.5622 None gnomAD-4.0.0 1.59135E-06
34106 294 V/M None rs780748204 0.2082 None gnomAD-2.1.1 4.02E-06
34108 296 A/P None None 0.1334 None gnomAD-4.0.0 1.36845E-06
34108 296 A/T None None 0.1334 None gnomAD-4.0.0 1.36845E-06
34108 296 A/V None None 0.1334 None gnomAD-4.0.0 6.84224E-07
34109 297 A/T None rs786205293 0.0809 None gnomAD-2.1.1 8.04E-06
34109 297 A/T None rs786205293 0.0809 None gnomAD-4.0.0 4.10524E-06
34109 297 A/V None rs1475114423 0.0809 None gnomAD-2.1.1 4.02E-06
34109 297 A/V None rs1475114423 0.0809 None gnomAD-4.0.0 3.18251E-06
34110 298 R/Q None rs565347600 0.1683 None gnomAD-2.1.1 3.22E-05
34110 298 R/Q None rs565347600 0.1683 None gnomAD-3.1.2 1.97E-05
34110 298 R/Q None rs565347600 0.1683 None 1000 genomes 1.99681E-04
34110 298 R/Q None rs565347600 0.1683 None gnomAD-4.0.0 1.61106E-05
34110 298 R/W None rs754873937 0.1683 None gnomAD-2.1.1 4.29E-05
34110 298 R/W None rs754873937 0.1683 None gnomAD-3.1.2 5.26E-05
34110 298 R/W None rs754873937 0.1683 None gnomAD-4.0.0 1.48729E-05
34112 300 S/A None rs889518198 0.0699 None gnomAD-3.1.2 6.57E-06
34112 300 S/A None rs889518198 0.0699 None gnomAD-4.0.0 1.23931E-06
34112 300 S/F None rs1252666695 0.0699 None gnomAD-2.1.1 4.02E-06
34112 300 S/F None rs1252666695 0.0699 None gnomAD-4.0.0 1.59114E-06
34112 300 S/P None None 0.0699 None gnomAD-4.0.0 6.84182E-07
34113 301 C/W None rs794729561 0.2435 None gnomAD-4.0.0 1.59107E-06
34113 301 C/Y None None 0.2435 None gnomAD-4.0.0 1.20032E-06
34115 303 G/R None None 0.1861 None gnomAD-4.0.0 1.59105E-06
34116 304 A/T None None 0.153 None gnomAD-4.0.0 1.36834E-06
34116 304 A/V None rs1690458726 0.153 None gnomAD-3.1.2 6.57E-06
34116 304 A/V None rs1690458726 0.153 None gnomAD-4.0.0 6.57168E-06
34117 305 I/V None None 0.3334 None gnomAD-4.0.0 1.59103E-06
34118 306 R/Q None rs551905996 0.2767 None gnomAD-2.1.1 4.64E-05
34118 306 R/Q None rs551905996 0.2767 None gnomAD-3.1.2 9.86E-05
34118 306 R/Q None rs551905996 0.2767 None 1000 genomes 1.99681E-04
34118 306 R/Q None rs551905996 0.2767 None gnomAD-4.0.0 3.77956E-05
34119 307 S/F None None 0.9195 None gnomAD-4.0.0 3.60097E-06
34119 307 S/P None rs1690455117 0.9195 None gnomAD-4.0.0 1.59101E-06
34120 308 Q/P None None 0.3905 None gnomAD-4.0.0 1.20046E-06
34122 310 G/A None None 0.7218 None gnomAD-4.0.0 1.59098E-06
34122 310 G/R None rs1195753595 0.7218 None gnomAD-2.1.1 4.02E-06
34122 310 G/R None rs1195753595 0.7218 None gnomAD-4.0.0 1.591E-06
34123 311 V/A None rs1060500587 0.2928 None gnomAD-2.1.1 4.02E-06
34123 311 V/A None rs1060500587 0.2928 None gnomAD-4.0.0 1.59097E-06
34123 311 V/G None rs1060500587 0.2928 None gnomAD-3.1.2 1.32E-05
34123 311 V/G None rs1060500587 0.2928 None gnomAD-4.0.0 3.84472E-06
34123 311 V/M None rs1690450339 0.2928 None gnomAD-3.1.2 6.57E-06
34123 311 V/M None rs1690450339 0.2928 None gnomAD-4.0.0 2.02973E-06
34124 312 S/N None rs1271436308 0.2865 None gnomAD-2.1.1 7.13E-06
34124 312 S/N None rs1271436308 0.2865 None gnomAD-3.1.2 6.57E-06
34124 312 S/N None rs1271436308 0.2865 None gnomAD-4.0.0 6.19627E-06
34125 313 V/A None rs762110611 0.4079 None gnomAD-2.1.1 4.02E-06
34125 313 V/A None rs762110611 0.4079 None gnomAD-3.1.2 6.57E-06
34125 313 V/A None rs762110611 0.4079 None gnomAD-4.0.0 6.40403E-06
34125 313 V/I None rs765603620 0.4079 None gnomAD-2.1.1 1.2E-05
34125 313 V/I None rs765603620 0.4079 None gnomAD-4.0.0 2.73662E-06
34125 313 V/L None rs765603620 0.4079 None gnomAD-2.1.1 4.02E-06
34125 313 V/L None rs765603620 0.4079 None gnomAD-4.0.0 4.10493E-06
34126 314 A/V None rs1280930563 0.1004 None gnomAD-3.1.2 6.57E-06
34126 314 A/V None rs1280930563 0.1004 None gnomAD-4.0.0 6.4049E-06
34127 315 K/E None rs1327804969 0.695 None gnomAD-3.1.2 1.31E-05
34127 315 K/E None rs1327804969 0.695 None gnomAD-4.0.0 3.04471E-06
34128 316 V/G None None 0.0989 None gnomAD-4.0.0 2.05247E-06
34128 316 V/L None rs753871187 0.0989 None gnomAD-2.1.1 1.61E-05
34128 316 V/L None rs753871187 0.0989 None gnomAD-4.0.0 1.43188E-05
34130 318 V/G None None 0.0996 None gnomAD-4.0.0 1.591E-06
34131 319 A/T None None 0.2289 None gnomAD-4.0.0 2.40064E-06
34132 320 S/F None None 0.6543 None gnomAD-4.0.0 1.20032E-06
34132 320 S/P None rs876658098 0.6543 None gnomAD-2.1.1 3.18E-05
34132 320 S/P None rs876658098 0.6543 None gnomAD-3.1.2 6.57E-06
34132 320 S/P None rs876658098 0.6543 None gnomAD-4.0.0 6.57082E-06
34132 320 S/T None rs876658098 0.6543 None gnomAD-2.1.1 4.01E-06
34132 320 S/T None rs876658098 0.6543 None gnomAD-4.0.0 2.05246E-06
34133 321 I/L None rs1328046092 0.8472 None gnomAD-2.1.1 4.02E-06
34133 321 I/L None rs1328046092 0.8472 None gnomAD-3.1.2 6.57E-06
34133 321 I/L None rs1328046092 0.8472 None gnomAD-4.0.0 2.47856E-06
34133 321 I/T None rs764179161 0.8472 None gnomAD-2.1.1 3.92E-05
34133 321 I/T None rs764179161 0.8472 None gnomAD-3.1.2 5.26E-05
34133 321 I/T None rs764179161 0.8472 None gnomAD-4.0.0 4.2136E-05
34133 321 I/V None None 0.8472 None gnomAD-4.0.0 6.84155E-07
34134 322 E/D None None 0.6921 None gnomAD-4.0.0 1.59096E-06
34134 322 E/K None rs1690433095 0.6921 None gnomAD-3.1.2 6.57E-06
34134 322 E/K None rs1690433095 0.6921 None gnomAD-4.0.0 5.12333E-06
34135 323 I/T None rs917268577 0.6112 None gnomAD-4.0.0 2.7366E-06