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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 0.5245 None gnomAD-4.0.0 3.18212E-06
33814 2 E/K None rs760254702 0.5245 None gnomAD-2.1.1 8.04E-06
33814 2 E/K None rs760254702 0.5245 None gnomAD-4.0.0 4.77327E-06
33814 2 E/V None None 0.5245 None gnomAD-4.0.0 1.20032E-06
33816 4 Y/C None None 0.6673 None gnomAD-4.0.0 1.36836E-06
33817 5 E/K None rs771596824 0.5832 None gnomAD-2.1.1 2.41E-05
33817 5 E/K None rs771596824 0.5832 None gnomAD-3.1.2 1.31E-05
33817 5 E/K None rs771596824 0.5832 None gnomAD-4.0.0 1.05335E-05
33819 7 Y/H None None 0.1164 None gnomAD-4.0.0 1.20032E-06
33820 8 M/T None rs995436105 0.5915 None gnomAD-3.1.2 6.57E-06
33820 8 M/T None rs995436105 0.5915 None gnomAD-4.0.0 6.57142E-06
33821 9 I/L None None 0.2654 None gnomAD-4.0.0 3.60097E-06
33821 9 I/T None None 0.2654 None gnomAD-4.0.0 1.20032E-06
33822 10 A/V None rs745421965 0.2052 None gnomAD-2.1.1 4.02E-06
33822 10 A/V None rs745421965 0.2052 None gnomAD-3.1.2 6.57E-06
33822 10 A/V None rs745421965 0.2052 None gnomAD-4.0.0 2.02995E-06
33823 11 E/K None rs778556139 0.3292 None gnomAD-2.1.1 4.02E-06
33823 11 E/K None rs778556139 0.3292 None gnomAD-4.0.0 3.18241E-06
33825 13 L/F None rs1389553978 0.1134 None gnomAD-2.1.1 4.02E-06
33825 13 L/F None rs1389553978 0.1134 None gnomAD-4.0.0 1.36841E-06
33825 13 L/I None None 0.1134 None gnomAD-4.0.0 6.84205E-07
33825 13 L/P None rs1559044679 0.1134 None gnomAD-2.1.1 4.02E-06
33825 13 L/P None rs1559044679 0.1134 None gnomAD-4.0.0 1.59121E-06
33827 15 R/C None rs372067498 0.5687 None gnomAD-2.1.1 3.22E-05
33827 15 R/C None rs372067498 0.5687 None gnomAD-3.1.2 1.97E-05
33827 15 R/C None rs372067498 0.5687 None gnomAD-4.0.0 2.16907E-05
33827 15 R/H None rs376403708 0.5687 None gnomAD-2.1.1 3.68023E-04
33827 15 R/H None rs376403708 0.5687 None gnomAD-3.1.2 2.82582E-04
33827 15 R/H None rs376403708 0.5687 None 1000 genomes 1.99681E-04
33827 15 R/H None rs376403708 0.5687 None gnomAD-4.0.0 1.5739E-04
33827 15 R/P None None 0.5687 None gnomAD-4.0.0 6.84212E-07
33827 15 R/S None rs372067498 0.5687 None gnomAD-3.1.2 6.58E-06
33827 15 R/S None rs372067498 0.5687 None gnomAD-4.0.0 6.57566E-06
33828 16 G/D None rs1690860089 0.2831 None gnomAD-3.1.2 6.57E-06
33828 16 G/D None rs1690860089 0.2831 None gnomAD-4.0.0 1.23938E-06
33828 16 G/V None None 0.2831 None gnomAD-4.0.0 1.36842E-06
33829 17 E/K None rs755890947 0.4237 None gnomAD-2.1.1 4.02E-06
33829 17 E/K None rs755890947 0.4237 None gnomAD-4.0.0 1.59124E-06
33830 18 F/I None rs1575289681 0.3346 None gnomAD-4.0.0 1.5912E-06
33830 18 F/Y None None 0.3346 None gnomAD-4.0.0 1.5912E-06
33831 19 G/R None None 0.184 None gnomAD-4.0.0 1.20032E-05
33832 20 I/T None rs1476820246 0.1854 None gnomAD-2.1.1 7.14E-06
33832 20 I/T None rs1476820246 0.1854 None gnomAD-3.1.2 1.31E-05
33832 20 I/T None rs1476820246 0.1854 None gnomAD-4.0.0 1.1774E-05
33834 22 H/R None None 0.2124 None gnomAD-4.0.0 2.05261E-06
33834 22 H/Y None rs534907370 0.2124 None gnomAD-2.1.1 8.05E-06
33834 22 H/Y None rs534907370 0.2124 None gnomAD-3.1.2 6.58E-06
33834 22 H/Y None rs534907370 0.2124 None 1000 genomes 1.99681E-04
33834 22 H/Y None rs534907370 0.2124 None gnomAD-4.0.0 6.81644E-06
33835 23 R/C None rs781516399 0.2958 None gnomAD-2.1.1 8.05E-06
33835 23 R/C None rs781516399 0.2958 None gnomAD-4.0.0 7.95699E-06
33835 23 R/H None rs373854384 0.2958 None gnomAD-2.1.1 3.57E-05
33835 23 R/H None rs373854384 0.2958 None gnomAD-3.1.2 1.31E-05
33835 23 R/H None rs373854384 0.2958 None gnomAD-4.0.0 1.48727E-05
33836 24 C/S None rs766439271 0.0791 None gnomAD-2.1.1 1.14305E-04
33836 24 C/S None rs766439271 0.0791 None gnomAD-3.1.2 6.57E-05
33836 24 C/S None rs766439271 0.0791 None gnomAD-4.0.0 1.00388E-04
33836 24 C/W None None 0.0791 None gnomAD-4.0.0 6.84207E-07
33837 25 V/A None rs1274232213 0.2356 None gnomAD-2.1.1 4.02E-06
33837 25 V/A None rs1274232213 0.2356 None gnomAD-4.0.0 5.47366E-06
33838 26 E/K None rs750880689 0.1243 None gnomAD-2.1.1 4.02E-06
33838 26 E/K None rs750880689 0.1243 None gnomAD-4.0.0 3.1826E-06
33839 27 T/I None None 0.6238 None gnomAD-4.0.0 1.59131E-06
33840 28 S/F None rs1202069310 0.5382 None gnomAD-3.1.2 1.31E-05
33840 28 S/F None rs1202069310 0.5382 None gnomAD-4.0.0 5.12462E-06
33840 28 S/T None None 0.5382 None gnomAD-4.0.0 1.59125E-06
33842 30 K/E None rs2154136431 0.8389 None gnomAD-3.1.2 6.57E-06
33842 30 K/E None rs2154136431 0.8389 None gnomAD-4.0.0 6.56573E-06
33843 31 K/N None rs377406091 0.6499 None gnomAD-2.1.1 4.02E-06
33843 31 K/N None rs377406091 0.6499 None gnomAD-3.1.2 6.57E-06
33843 31 K/N None rs377406091 0.6499 None gnomAD-4.0.0 7.68634E-06
33844 32 T/I None rs1559043994 0.2682 None gnomAD-2.1.1 4.02E-06
33844 32 T/I None rs1559043994 0.2682 None gnomAD-3.1.2 6.57E-06
33844 32 T/I None rs1559043994 0.2682 None gnomAD-4.0.0 2.56211E-06
33845 33 Y/H None rs1227515280 0.1333 None gnomAD-2.1.1 4.02E-06
33845 33 Y/H None rs1227515280 0.1333 None gnomAD-4.0.0 6.36468E-06
33846 34 M/I None rs1690830241 0.0871 None gnomAD-4.0.0 1.20032E-06
33846 34 M/V None rs565546848 0.0871 None gnomAD-2.1.1 1.21E-05
33846 34 M/V None rs565546848 0.0871 None gnomAD-3.1.2 2.63E-05
33846 34 M/V None rs565546848 0.0871 None 1000 genomes 1.99681E-04
33846 34 M/V None rs565546848 0.0871 None gnomAD-4.0.0 8.05491E-06
33847 35 A/D None None 0.0899 None gnomAD-4.0.0 1.3684E-06
33847 35 A/V None rs1690829202 0.0899 None gnomAD-4.0.0 6.84199E-07
33848 36 K/N None rs774004640 0.1198 None gnomAD-2.1.1 2.01E-05
33848 36 K/N None rs774004640 0.1198 None gnomAD-4.0.0 2.05253E-05
33848 36 K/R None rs759258408 0.1198 None gnomAD-2.1.1 4.02E-06
33848 36 K/R None rs759258408 0.1198 None gnomAD-4.0.0 1.59109E-06
33849 37 F/C None None 0.1942 None gnomAD-4.0.0 2.73673E-06
33850 38 V/D None None 0.1797 None gnomAD-4.0.0 6.84178E-07
33850 38 V/G None None 0.1797 None gnomAD-4.0.0 6.84178E-07
33850 38 V/I None rs1176483211 0.1797 None gnomAD-3.1.2 6.57E-06
33850 38 V/I None rs1176483211 0.1797 None gnomAD-4.0.0 6.57099E-06
33851 39 K/N None None 0.6278 None gnomAD-4.0.0 2.40064E-06
33851 39 K/Q None rs1394900631 0.6278 None gnomAD-2.1.1 8.04E-06
33851 39 K/Q None rs1394900631 0.6278 None gnomAD-4.0.0 3.18224E-06
33851 39 K/T None rs770508302 0.6278 None gnomAD-2.1.1 4.02E-06
33851 39 K/T None rs770508302 0.6278 None gnomAD-4.0.0 1.59113E-06
33853 41 K/E None rs727505163 0.4542 None gnomAD-2.1.1 7.14E-06
33853 41 K/E None rs727505163 0.4542 None gnomAD-3.1.2 6.57E-06
33853 41 K/E None rs727505163 0.4542 None gnomAD-4.0.0 3.84262E-06
33854 42 G/R None None 0.3865 None gnomAD-4.0.0 6.84185E-07
33855 43 T/A None None 0.8349 None gnomAD-4.0.0 1.20039E-06
33855 43 T/P None None 0.8349 None gnomAD-4.0.0 1.20039E-06
33857 45 Q/H None rs1690812361 0.1506 None gnomAD-4.0.0 1.36838E-06
33857 45 Q/R None None 0.1506 None gnomAD-4.0.0 1.20032E-06
33858 46 V/D None rs1172459056 0.4976 None gnomAD-3.1.2 1.31E-05
33858 46 V/D None rs1172459056 0.4976 None gnomAD-4.0.0 1.85904E-06
33858 46 V/G None None 0.4976 None gnomAD-4.0.0 2.73674E-06
33858 46 V/L None rs1060500584 0.4976 None gnomAD-3.1.2 6.57E-06
33858 46 V/L None rs1060500584 0.4976 None gnomAD-4.0.0 6.57117E-06
33860 48 V/I None rs141082389 0.1475 None gnomAD-2.1.1 4.02E-06
33860 48 V/I None rs141082389 0.1475 None gnomAD-3.1.2 2.63E-05
33860 48 V/I None rs141082389 0.1475 None 1000 genomes 1.99681E-04
33860 48 V/I None rs141082389 0.1475 None gnomAD-4.0.0 8.05524E-06
33863 51 E/G None None 0.1483 None gnomAD-4.0.0 4.80129E-06
33863 51 E/K None rs1690803197 0.1483 None gnomAD-4.0.0 3.18234E-06
33864 52 I/V None None 0.1992 None gnomAD-4.0.0 2.0526E-06
33866 54 I/V None None 0.1461 None gnomAD-4.0.0 1.59122E-06
33867 55 L/M None None 0.1365 None gnomAD-4.0.0 1.36841E-06
33867 55 L/V None rs76194811 0.1365 None gnomAD-2.1.1 8.03E-05
33867 55 L/V None rs76194811 0.1365 None gnomAD-3.1.2 2.63E-05
33867 55 L/V None rs76194811 0.1365 None 1000 genomes 1.99681E-04
33867 55 L/V None rs76194811 0.1365 None gnomAD-4.0.0 4.77136E-05
33868 56 N/I None rs748022692 0.4926 None gnomAD-2.1.1 4.02E-06
33868 56 N/I None rs748022692 0.4926 None gnomAD-4.0.0 1.59122E-06
33869 57 I/T None rs1253957228 0.3536 None gnomAD-2.1.1 8.03E-06
33869 57 I/T None rs1253957228 0.3536 None gnomAD-3.1.2 1.97E-05
33869 57 I/T None rs1253957228 0.3536 None gnomAD-4.0.0 9.91477E-06
33870 58 A/G None rs935055445 0.1207 None gnomAD-2.1.1 4.02E-06
33870 58 A/G None rs935055445 0.1207 None gnomAD-4.0.0 4.78957E-06
33871 59 R/K None rs1456770394 0.3634 None gnomAD-2.1.1 4.02E-06
33871 59 R/K None rs1456770394 0.3634 None gnomAD-3.1.2 1.31E-05
33871 59 R/K None rs1456770394 0.3634 None gnomAD-4.0.0 3.84353E-06
33871 59 R/S None rs797046068 0.3634 None gnomAD-4.0.0 7.52649E-06
33872 60 H/N None rs1690791818 0.1848 None gnomAD-4.0.0 1.59142E-06
33872 60 H/Q None rs1275685669 0.1848 None gnomAD-2.1.1 4.02E-06
33872 60 H/Q None rs1275685669 0.1848 None gnomAD-4.0.0 6.84242E-07
33872 60 H/R None None 0.1848 None gnomAD-4.0.0 1.20032E-06
33873 61 R/G None None 0.4717 None gnomAD-4.0.0 1.59141E-06
33873 61 R/T None None 0.4717 None gnomAD-4.0.0 1.59144E-06
33875 63 I/V None rs1343609511 0.096 None gnomAD-2.1.1 4.02E-06
33875 63 I/V None rs1343609511 0.096 None gnomAD-4.0.0 2.05279E-06
33877 65 H/N None rs1690786587 0.4258 None gnomAD-4.0.0 6.84306E-07
33877 65 H/Q None rs755256603 0.4258 None gnomAD-2.1.1 4.02E-06
33877 65 H/Q None rs755256603 0.4258 None gnomAD-4.0.0 6.84314E-07
33877 65 H/Y None rs1690786587 0.4258 None gnomAD-4.0.0 6.84306E-07
33878 66 L/F None rs1235957959 0.1314 None gnomAD-4.0.0 6.8432E-07
33879 67 H/R None rs762414833 0.3638 None gnomAD-2.1.1 1.21E-05
33879 67 H/R None rs762414833 0.3638 None gnomAD-4.0.0 4.10608E-06
33879 67 H/Y None rs1247427318 0.3638 None gnomAD-2.1.1 3.18E-05
33879 67 H/Y None rs1247427318 0.3638 None gnomAD-3.1.2 1.31E-05
33879 67 H/Y None rs1247427318 0.3638 None gnomAD-4.0.0 6.40828E-06
33880 68 E/A None rs1690780313 0.1903 None gnomAD-4.0.0 1.36875E-06
33880 68 E/Q None None 0.1903 None gnomAD-4.0.0 1.20032E-06
33883 71 E/G None rs1329397426 0.658 None gnomAD-2.1.1 4.03E-06
33883 71 E/G None rs1329397426 0.658 None gnomAD-4.0.0 1.59281E-06
33883 71 E/K None None 0.658 None gnomAD-4.0.0 1.20032E-06
33884 72 S/R None rs758420542 0.3316 None gnomAD-2.1.1 4.03E-06
33884 72 S/R None rs758420542 0.3316 None gnomAD-4.0.0 1.59328E-06
33885 73 M/I None rs777177959 0.852 None gnomAD-2.1.1 8.06E-06
33885 73 M/I None rs777177959 0.852 None gnomAD-3.1.2 6.57E-06
33885 73 M/I None rs777177959 0.852 None gnomAD-4.0.0 1.42606E-05
33885 73 M/T None None 0.852 None gnomAD-4.0.0 1.20032E-06
33886 74 E/D None rs1171862038 0.4613 None gnomAD-4.0.0 1.36932E-06
33886 74 E/Q None None 0.4613 None gnomAD-4.0.0 2.40065E-06
33887 75 E/K None rs1455680068 0.2303 None gnomAD-2.1.1 1.61E-05
33887 75 E/K None rs1455680068 0.2303 None gnomAD-3.1.2 1.97E-05
33887 75 E/K None rs1455680068 0.2303 None gnomAD-4.0.0 4.34036E-06
33888 76 L/S None rs549890031 0.1525 None gnomAD-2.1.1 8.07E-06
33888 76 L/S None rs549890031 0.1525 None gnomAD-3.1.2 6.57E-06
33888 76 L/S None rs549890031 0.1525 None 1000 genomes 1.99681E-04
33888 76 L/S None rs549890031 0.1525 None gnomAD-4.0.0 1.86014E-06
33889 77 V/I None rs34924609 0.1078 None gnomAD-2.1.1 3.11952E-03
33889 77 V/I None rs34924609 0.1078 None gnomAD-3.1.2 3.52187E-03
33889 77 V/I None rs34924609 0.1078 None 1000 genomes 1.19808E-03
33889 77 V/I None rs34924609 0.1078 None gnomAD-4.0.0 5.39094E-03
33890 78 M/I None None 0.1065 None gnomAD-4.0.0 6.84854E-07
33890 78 M/L None rs754298968 0.1065 None gnomAD-2.1.1 1.21E-05
33890 78 M/L None rs754298968 0.1065 None gnomAD-4.0.0 6.37696E-06
33893 81 E/D None rs764487443 0.2034 None gnomAD-2.1.1 1.21E-05
33893 81 E/D None rs764487443 0.2034 None gnomAD-3.1.2 1.31E-05
33893 81 E/D None rs764487443 0.2034 None gnomAD-4.0.0 6.20361E-06
33893 81 E/K None None 0.2034 None gnomAD-4.0.0 3.60097E-06
33894 82 F/I None None 0.2573 None gnomAD-4.0.0 2.40065E-06
33895 83 I/L None rs759278414 0.1308 None gnomAD-4.0.0 6.85192E-07
33895 83 I/T None rs1575286728 0.1308 None gnomAD-3.1.2 6.57E-06
33895 83 I/T None rs1575286728 0.1308 None gnomAD-4.0.0 3.10224E-06
33895 83 I/V None rs759278414 0.1308 None gnomAD-2.1.1 4.05E-06
33895 83 I/V None rs759278414 0.1308 None gnomAD-3.1.2 6.57E-06
33895 83 I/V None rs759278414 0.1308 None gnomAD-4.0.0 1.86142E-06
33896 84 S/L None rs376813674 0.2879 None gnomAD-2.1.1 4.05E-06
33896 84 S/L None rs376813674 0.2879 None gnomAD-3.1.2 1.97E-05
33896 84 S/L None rs376813674 0.2879 None gnomAD-4.0.0 4.96493E-06
33897 85 G/V None None 0.1101 None gnomAD-4.0.0 1.20033E-06
33898 86 L/F None rs371930491 0.2372 None gnomAD-4.0.0 2.74189E-06
33898 86 L/P None rs1575286611 0.2372 None gnomAD-4.0.0 2.40067E-06
33899 87 D/G None rs794729560 0.0736 None gnomAD-2.1.1 4.06E-06
33899 87 D/G None rs794729560 0.0736 None gnomAD-4.0.0 3.1973E-06
33901 89 F/S None None 0.1181 None gnomAD-4.0.0 6.85716E-07
33902 90 E/K None rs762592218 0.1393 None gnomAD-2.1.1 3.18E-05
33902 90 E/K None rs762592218 0.1393 None gnomAD-3.1.2 6.57E-06
33902 90 E/K None rs762592218 0.1393 None gnomAD-4.0.0 2.48411E-06
33902 90 E/Q None rs762592218 0.1393 None gnomAD-2.1.1 4.06E-06
33902 90 E/Q None rs762592218 0.1393 None gnomAD-4.0.0 4.11508E-06
33903 91 R/C None rs772574722 0.0999 None gnomAD-2.1.1 4.69E-05
33903 91 R/C None rs772574722 0.0999 None gnomAD-3.1.2 3.94E-05
33903 91 R/C None rs772574722 0.0999 None gnomAD-4.0.0 2.60895E-05
33903 91 R/H None rs72629782 0.0999 None gnomAD-2.1.1 2.41827E-04
33903 91 R/H None rs72629782 0.0999 None gnomAD-3.1.2 1.90576E-04
33903 91 R/H None rs72629782 0.0999 None 1000 genomes 5.99042E-04
33903 91 R/H None rs72629782 0.0999 Other
Literature None
33903 91 R/H None rs72629782 0.0999 None gnomAD-4.0.0 9.25565E-05
33903 91 R/L None rs72629782 0.0999 None gnomAD-4.0.0 1.37218E-06
33903 91 R/S None None 0.0999 None gnomAD-3.1.2 6.57E-06
33903 91 R/S None None 0.0999 None gnomAD-4.0.0 2.48471E-06
33904 92 I/T None rs748029947 0.1231 None gnomAD-2.1.1 4.07E-06
33904 92 I/T None rs748029947 0.1231 None gnomAD-4.0.0 7.54692E-06
33904 92 I/V None None 0.1231 None gnomAD-4.0.0 1.08029E-05
33906 94 T/I None rs776487376 0.3343 None gnomAD-2.1.1 4.08E-06
33906 94 T/I None rs776487376 0.3343 None gnomAD-4.0.0 6.8625E-07
33906 94 T/P None None 0.3343 None gnomAD-4.0.0 1.20032E-06
33906 94 T/R None None 0.3343 None gnomAD-4.0.0 2.745E-06
33909 97 F/I None rs1015489403 0.2315 None gnomAD-3.1.2 6.57E-06
33909 97 F/I None rs1015489403 0.2315 None gnomAD-4.0.0 6.56944E-06
33909 97 F/V None rs1015489403 0.2315 None gnomAD-2.1.1 8.16E-06
33909 97 F/V None rs1015489403 0.2315 None gnomAD-3.1.2 6.57E-06
33909 97 F/V None rs1015489403 0.2315 None gnomAD-4.0.0 3.72865E-06
33910 98 E/K None rs943777958 0.6884 None gnomAD-2.1.1 2.53E-05
33910 98 E/K None rs943777958 0.6884 None gnomAD-3.1.2 1.31E-05
33910 98 E/K None rs943777958 0.6884 None gnomAD-4.0.0 2.29979E-05
33911 99 L/F None None 0.1497 None gnomAD-4.0.0 1.20032E-06
33912 100 N/S None rs1436628843 0.15 None gnomAD-2.1.1 4.08E-06
33912 100 N/S None rs1436628843 0.15 None gnomAD-3.1.2 6.57E-06
33912 100 N/S None rs1436628843 0.15 None gnomAD-4.0.0 2.5788E-06
33913 101 E/G None None 0.1119 None gnomAD-4.0.0 2.40064E-06
33913 101 E/K None rs1376195366 0.1119 None gnomAD-2.1.1 4.09E-06
33913 101 E/K None rs1376195366 0.1119 None gnomAD-4.0.0 2.05995E-06
33913 101 E/Q None rs1376195366 0.1119 None gnomAD-4.0.0 6.86651E-07
33914 102 R/T None None 0.3789 None gnomAD-4.0.0 1.60466E-06
33915 103 E/K None rs1690736229 0.272 None gnomAD-3.1.2 6.57E-06
33915 103 E/K None rs1690736229 0.272 None gnomAD-4.0.0 6.57047E-06
33917 105 V/I None rs768379988 0.0982 None gnomAD-2.1.1 1.63E-05
33917 105 V/I None rs768379988 0.0982 None gnomAD-3.1.2 6.57E-06
33917 105 V/I None rs768379988 0.0982 None gnomAD-4.0.0 1.67863E-05
33917 105 V/L None rs768379988 0.0982 None gnomAD-4.0.0 6.86694E-07
33918 106 S/G None rs1363833448 0.3218 None gnomAD-2.1.1 3.18E-05
33918 106 S/G None rs1363833448 0.3218 None gnomAD-3.1.2 6.57E-06
33918 106 S/G None rs1363833448 0.3218 None gnomAD-4.0.0 6.5697E-06
33918 106 S/R None rs952080555 0.3218 None gnomAD-2.1.1 4.09E-06
33918 106 S/R None rs952080555 0.3218 None gnomAD-4.0.0 3.20916E-06
33919 107 Y/F None None 0.129 None gnomAD-4.0.0 1.6046E-06
33921 109 H/Y None rs1410541718 0.3773 None gnomAD-2.1.1 4.09E-06
33921 109 H/Y None rs1410541718 0.3773 None gnomAD-4.0.0 2.05989E-06
33922 110 Q/H None rs55886356 0.1232 None gnomAD-2.1.1 7.06851E-03
33922 110 Q/H None rs55886356 0.1232 None gnomAD-3.1.2 7.54697E-03
33922 110 Q/H None rs55886356 0.1232 None 1000 genomes 4.59265E-03
33922 110 Q/H None rs55886356 0.1232 None gnomAD-4.0.0 1.00219E-02
33922 110 Q/R None None 0.1232 None gnomAD-4.0.0 6.86511E-07
33923 111 V/I None None 0.1431 None gnomAD-4.0.0 6.86481E-07
33924 112 C/Y None None 0.0775 None gnomAD-4.0.0 6.86374E-07
33925 113 E/G None None 0.1782 None gnomAD-4.0.0 6.86249E-07
33925 113 E/K None rs780205747 0.1782 None gnomAD-2.1.1 1.22E-05
33925 113 E/K None rs780205747 0.1782 None gnomAD-4.0.0 8.01333E-06
33928 116 Q/R None rs772264395 0.3232 None gnomAD-3.1.2 6.57E-06
33928 116 Q/R None rs772264395 0.3232 None gnomAD-4.0.0 1.41607E-05
33929 117 F/S None None 0.2166 None gnomAD-4.0.0 1.60075E-06
33930 118 L/S None None 0.1239 None gnomAD-4.0.0 2.40067E-06
33931 119 H/Y None rs746021065 0.1788 None gnomAD-2.1.1 4.07E-06
33931 119 H/Y None rs746021065 0.1788 None gnomAD-4.0.0 1.60008E-06
33933 121 H/N None None 0.3977 None gnomAD-4.0.0 1.59916E-06
33933 121 H/Q None rs757788117 0.3977 None gnomAD-2.1.1 4.06E-06
33933 121 H/Q None rs757788117 0.3977 None gnomAD-3.1.2 6.57E-06
33933 121 H/Q None rs757788117 0.3977 None gnomAD-4.0.0 6.56953E-06
33933 121 H/R None rs778857510 0.3977 None gnomAD-2.1.1 2.44E-05
33933 121 H/R None rs778857510 0.3977 None gnomAD-4.0.0 1.16545E-05
33934 122 N/S None None 0.4103 None gnomAD-4.0.0 1.59831E-06
33935 123 I/M None rs76106451 0.0973 None gnomAD-2.1.1 2.16E-05
33935 123 I/M None rs76106451 0.0973 None gnomAD-3.1.2 1.97E-05
33935 123 I/M None rs76106451 0.0973 None 1000 genomes 1.99681E-04
33935 123 I/M None rs76106451 0.0973 None gnomAD-4.0.0 1.24114E-05
33935 123 I/T None rs778304667 0.0973 None gnomAD-2.1.1 4.05E-06
33935 123 I/T None rs778304667 0.0973 None gnomAD-4.0.0 1.37078E-06
33935 123 I/V None rs56376197 0.0973 None gnomAD-2.1.1 5.00068E-03
33935 123 I/V None rs56376197 0.0973 None gnomAD-3.1.2 1.49078E-02
33935 123 I/V None rs56376197 0.0973 None 1000 genomes 1.23802E-02
33935 123 I/V None rs56376197 0.0973 None gnomAD-4.0.0 2.72457E-03
33936 124 G/A None rs753079587 0.0949 None gnomAD-2.1.1 1.08E-05
33936 124 G/A None rs753079587 0.0949 None gnomAD-4.0.0 2.39871E-05
33936 124 G/E None None 0.0949 None gnomAD-4.0.0 6.85346E-07
33937 125 H/N None rs1690708183 0.1318 None gnomAD-4.0.0 3.1943E-06
33939 127 D/E None None 0.1709 None gnomAD-4.0.0 1.59602E-06
33939 127 D/Y None None 0.1709 None gnomAD-4.0.0 1.59637E-06
33940 128 I/T None rs184789288 0.1659 None gnomAD-3.1.2 6.57E-06
33940 128 I/T None rs184789288 0.1659 None 1000 genomes 1.99681E-04
33940 128 I/T None rs184789288 0.1659 None gnomAD-4.0.0 6.56694E-06
33940 128 I/V None rs1354041065 0.1659 None gnomAD-2.1.1 4.05E-06
33940 128 I/V None rs1354041065 0.1659 None gnomAD-4.0.0 1.59572E-06
33941 129 R/T None rs762498249 0.1363 None gnomAD-2.1.1 1.08E-05
33941 129 R/T None rs762498249 0.1363 None gnomAD-3.1.2 2.63E-05
33941 129 R/T None rs762498249 0.1363 None gnomAD-4.0.0 7.70074E-06
33943 131 E/G None None 0.1556 None gnomAD-4.0.0 1.20032E-06
33944 132 N/S None rs2154136201 0.1485 None gnomAD-4.0.0 2.73857E-06
33944 132 N/Y None rs1690702377 0.1485 None gnomAD-4.0.0 4.78086E-06
33945 133 I/T None None 0.1025 None gnomAD-4.0.0 2.40064E-06
33945 133 I/V None rs1356126685 0.1025 None gnomAD-2.1.1 4.03E-06
33945 133 I/V None rs1356126685 0.1025 None gnomAD-4.0.0 6.37314E-06
33946 134 I/T None rs1559041085 0.0698 None gnomAD-4.0.0 1.20032E-06
33947 135 Y/C None rs557060548 0.124 None gnomAD-2.1.1 4.03E-06
33947 135 Y/C None rs557060548 0.124 None gnomAD-3.1.2 1.31E-05
33947 135 Y/C None rs557060548 0.124 None 1000 genomes 1.99681E-04
33947 135 Y/C None rs557060548 0.124 None gnomAD-4.0.0 2.47939E-06
33947 135 Y/S None rs557060548 0.124 None gnomAD-4.0.0 1.36892E-06
33949 137 T/I None rs1559040993 0.3517 None gnomAD-2.1.1 3.18E-05
33949 137 T/I None rs1559040993 0.3517 None gnomAD-3.1.2 6.57E-06
33949 137 T/I None rs1559040993 0.3517 None gnomAD-4.0.0 6.57358E-06
33950 138 R/G None rs1013907314 0.6407 None gnomAD-3.1.2 6.57E-06
33950 138 R/G None rs1013907314 0.6407 None gnomAD-4.0.0 3.71867E-06
33951 139 R/S None rs761821275 0.8643 None gnomAD-2.1.1 2.01E-05
33951 139 R/S None rs761821275 0.8643 None gnomAD-4.0.0 6.36665E-06
33953 141 S/C None rs1575284524 0.5547 None gnomAD-4.0.0 9.54885E-06
33954 142 T/I None rs368172120 0.3072 None gnomAD-4.0.0 2.0527E-06
33954 142 T/N None rs368172120 0.3072 None gnomAD-2.1.1 4.02E-06
33956 144 K/E None None 0.1167 None gnomAD-4.0.0 6.84214E-07
33956 144 K/Q None rs1690684721 0.1167 None gnomAD-3.1.2 1.31E-05
33956 144 K/Q None rs1690684721 0.1167 None gnomAD-4.0.0 3.71808E-06
33957 145 I/L None None 0.1251 None gnomAD-4.0.0 1.59129E-06
33958 146 I/T None rs760516584 0.1259 None gnomAD-2.1.1 2.01E-05
33958 146 I/T None rs760516584 0.1259 None gnomAD-3.1.2 1.31E-05
33958 146 I/T None rs760516584 0.1259 None gnomAD-4.0.0 1.23937E-05
33959 147 E/K None rs886055224 0.1622 None gnomAD-2.1.1 4.02E-06
33959 147 E/K None rs886055224 0.1622 None gnomAD-3.1.2 2.63E-05
33959 147 E/K None rs886055224 0.1622 None gnomAD-4.0.0 1.42532E-05
33959 147 E/V None None 0.1622 None gnomAD-4.0.0 1.20032E-06
33960 148 F/L None rs1690680023 0.1852 None gnomAD-3.1.2 6.57E-06
33960 148 F/L None rs1690680023 0.1852 None gnomAD-4.0.0 6.57341E-06
33960 148 F/S None rs1690678952 0.1852 None gnomAD-3.1.2 6.57E-06
33960 148 F/S None rs1690678952 0.1852 None gnomAD-4.0.0 2.56202E-06
33961 149 G/A None None 0.1703 None gnomAD-4.0.0 6.84197E-07
33961 149 G/S None rs775256517 0.1703 None gnomAD-2.1.1 4.02E-06
33961 149 G/S None rs775256517 0.1703 None gnomAD-4.0.0 1.36841E-06
33961 149 G/V None rs1184245523 0.1703 None gnomAD-2.1.1 4.02E-06
33961 149 G/V None rs1184245523 0.1703 None gnomAD-4.0.0 6.84197E-07
33962 150 Q/R None None 0.1132 None gnomAD-4.0.0 1.59119E-06
33964 152 R/C None rs779064623 0.1451 None gnomAD-2.1.1 8.04E-06
33964 152 R/C None rs779064623 0.1451 None gnomAD-3.1.2 1.97E-05
33964 152 R/C None rs779064623 0.1451 None gnomAD-4.0.0 1.23943E-05
33964 152 R/G None rs779064623 0.1451 None gnomAD-2.1.1 4.02E-06
33964 152 R/G None rs779064623 0.1451 None gnomAD-3.1.2 6.57E-06
33964 152 R/G None rs779064623 0.1451 None gnomAD-4.0.0 6.57471E-06
33964 152 R/H None rs55669553 0.1451 None gnomAD-2.1.1 3.45492E-03
33964 152 R/H None rs55669553 0.1451 None gnomAD-3.1.2 1.77468E-03
33964 152 R/H None rs55669553 0.1451 None 1000 genomes 5.99042E-03
33964 152 R/H None rs55669553 0.1451 None gnomAD-4.0.0 2.20038E-03
33964 152 R/L None None 0.1451 None gnomAD-4.0.0 1.36841E-06
33964 152 R/S None None 0.1451 None gnomAD-2.1.1 5.71E-05
33964 152 R/S None None 0.1451 None gnomAD-3.1.2 3.29E-05
33964 152 R/S None None 0.1451 None gnomAD-4.0.0 8.42812E-05
33965 153 Q/H None None 0.47 None gnomAD-4.0.0 1.59124E-06
33965 153 Q/R None None 0.47 None gnomAD-4.0.0 1.20032E-06
33967 155 K/I None None 0.5937 None gnomAD-4.0.0 1.59121E-06
33969 157 G/E None None 0.3504 None gnomAD-4.0.0 1.20032E-06
33970 158 D/N None rs749832500 0.472 None gnomAD-2.1.1 1.21E-05
33970 158 D/N None rs749832500 0.472 None gnomAD-3.1.2 6.57E-06
33970 158 D/N None rs749832500 0.472 None gnomAD-4.0.0 4.33801E-06
33971 159 N/D None None 0.6996 None gnomAD-4.0.0 1.59125E-06
33972 160 F/S None None 0.1906 None gnomAD-4.0.0 1.59127E-06
33976 164 F/L None None 0.1264 None gnomAD-4.0.0 1.59127E-06
33976 164 F/S None None 0.1264 None gnomAD-4.0.0 6.84211E-07
33976 164 F/Y None None 0.1264 None gnomAD-4.0.0 1.36842E-06
33977 165 T/A None rs1434947550 0.646 None gnomAD-3.1.2 1.31E-05
33977 165 T/A None rs1434947550 0.646 None gnomAD-4.0.0 3.04476E-06
33977 165 T/I None None 0.646 None gnomAD-4.0.0 3.1826E-06
33978 166 A/T None rs756665400 0.1718 None gnomAD-2.1.1 4.02E-06
33978 166 A/T None rs756665400 0.1718 None gnomAD-4.0.0 1.36847E-06
33979 167 P/R None rs200238877 0.194 None gnomAD-2.1.1 2.99908E-04
33979 167 P/R None rs200238877 0.194 None gnomAD-3.1.2 8.67451E-04
33979 167 P/R None rs200238877 0.194 None 1000 genomes 9.98403E-04
33979 167 P/R None rs200238877 0.194 None gnomAD-4.0.0 1.67309E-04
33980 168 E/D None rs2154136129 0.0944 None gnomAD-3.1.2 6.57E-06
33980 168 E/D None rs2154136129 0.0944 None gnomAD-4.0.0 6.56538E-06
33980 168 E/G None rs1559040103 0.0944 None gnomAD-2.1.1 4.02E-06
33980 168 E/G None rs1559040103 0.0944 None gnomAD-4.0.0 1.59129E-06
33980 168 E/K None None 0.0944 None gnomAD-4.0.0 6.84228E-07
33980 168 E/Q None None 0.0944 None gnomAD-4.0.0 2.05268E-06
33981 169 Y/H None rs781686886 0.0947 None gnomAD-2.1.1 1.21E-05
33981 169 Y/H None rs781686886 0.0947 None gnomAD-3.1.2 3.29E-05
33981 169 Y/H None rs781686886 0.0947 None gnomAD-4.0.0 9.9151E-06
33982 170 Y/C None rs888342815 0.1217 None gnomAD-3.1.2 6.57E-06
33982 170 Y/C None rs888342815 0.1217 None gnomAD-4.0.0 6.57047E-06
33982 170 Y/D None rs1289613235 0.1217 None gnomAD-2.1.1 4.02E-06
33982 170 Y/D None rs1289613235 0.1217 None gnomAD-4.0.0 6.84224E-07
33982 170 Y/F None None 0.1217 None gnomAD-4.0.0 3.18277E-06
33982 170 Y/H None rs1289613235 0.1217 None gnomAD-2.1.1 4.02E-06
33982 170 Y/H None rs1289613235 0.1217 None gnomAD-4.0.0 1.36845E-06
33984 172 P/H None None 0.092 None gnomAD-4.0.0 1.36852E-06
33984 172 P/L None rs1392647027 0.092 None gnomAD-2.1.1 4.02E-06
33984 172 P/L None rs1392647027 0.092 None gnomAD-4.0.0 1.36852E-06
33984 172 P/R None None 0.092 None gnomAD-4.0.0 6.84258E-07
33984 172 P/S None None 0.092 None gnomAD-4.0.0 3.18299E-06
33985 173 E/Q None rs534613934 0.0666 None gnomAD-2.1.1 4.64E-05
33985 173 E/Q None rs534613934 0.0666 None gnomAD-3.1.2 5.91E-05
33985 173 E/Q None rs534613934 0.0666 None 1000 genomes 3.99361E-04
33985 173 E/Q None rs534613934 0.0666 None gnomAD-4.0.0 4.48352E-05
33986 174 V/D None None 0.107 None gnomAD-4.0.0 3.60097E-06
33986 174 V/I None None 0.107 None gnomAD-4.0.0 1.59164E-06
33987 175 H/N None rs1690646810 0.1829 None gnomAD-4.0.0 1.59176E-06
33987 175 H/R None None 0.1829 None gnomAD-4.0.0 1.59172E-06
33987 175 H/Y None rs1690646810 0.1829 None gnomAD-3.1.2 6.57E-06
33987 175 H/Y None rs1690646810 0.1829 None gnomAD-4.0.0 6.57117E-06
33988 176 Q/H None rs1690644273 0.3955 None gnomAD-3.1.2 6.57E-06
33988 176 Q/H None rs1690644273 0.3955 None gnomAD-4.0.0 6.56961E-06
33989 177 H/Y None rs1462346829 0.3798 None gnomAD-2.1.1 8.04E-06
33989 177 H/Y None rs1462346829 0.3798 None gnomAD-4.0.0 4.77509E-06
33991 179 V/F None rs1423532628 0.1713 None gnomAD-2.1.1 8.04E-06
33991 179 V/F None rs1423532628 0.1713 None gnomAD-4.0.0 4.77544E-06
33992 180 V/D None None 0.1124 None gnomAD-4.0.0 1.20032E-06
33992 180 V/I None None 0.1124 None gnomAD-4.0.0 1.20032E-06
33993 181 S/N None None 0.2627 None gnomAD-4.0.0 1.59193E-06
33994 182 T/K None rs1419643205 0.2644 None gnomAD-2.1.1 4.02E-06
33994 182 T/K None rs1419643205 0.2644 None gnomAD-3.1.2 6.57E-06
33994 182 T/K None rs1419643205 0.2644 None gnomAD-4.0.0 8.96875E-06
33996 184 T/I None None 0.1236 None gnomAD-4.0.0 1.59158E-06
33997 185 D/N None None 0.1158 None gnomAD-4.0.0 1.59169E-06
33998 186 M/T None rs1559039438 0.0835 None gnomAD-4.0.0 1.59151E-06
33998 186 M/V None None 0.0835 None gnomAD-4.0.0 1.59161E-06
33999 187 W/C None rs764821435 0.078 None gnomAD-2.1.1 1.21E-05
33999 187 W/C None rs764821435 0.078 None gnomAD-4.0.0 4.77458E-06
33999 187 W/R None None 0.078 None gnomAD-4.0.0 1.20032E-06
33999 187 W/S None None 0.078 None gnomAD-4.0.0 6.84273E-07
34000 188 S/T None rs1452192430 0.0988 None gnomAD-2.1.1 4.02E-06
34000 188 S/T None rs1452192430 0.0988 None gnomAD-4.0.0 1.59151E-06
34001 189 L/F None rs1225450640 0.1436 None gnomAD-3.1.2 6.57E-06
34001 189 L/F None rs1225450640 0.1436 None gnomAD-4.0.0 2.02983E-06
34003 191 T/P None None 0.0776 None gnomAD-4.0.0 1.36845E-06
34004 192 L/P None None 0.111 None gnomAD-4.0.0 1.36845E-06
34004 192 L/Q None rs727504897 0.111 None gnomAD-2.1.1 8.04E-06
34004 192 L/Q None rs727504897 0.111 None gnomAD-4.0.0 1.36845E-05
34004 192 L/V None None 0.111 None gnomAD-4.0.0 1.20032E-06
34006 194 Y/H None None 0.0727 None gnomAD-4.0.0 1.59124E-06
34007 195 V/A None rs370702360 0.0722 None gnomAD-2.1.1 4.02E-06
34007 195 V/A None rs370702360 0.0722 None gnomAD-3.1.2 6.57E-06
34007 195 V/A None rs370702360 0.0722 None gnomAD-4.0.0 6.57056E-06
34009 197 L/F None rs760604476 0.1342 None gnomAD-2.1.1 8.04E-06
34009 197 L/F None rs760604476 0.1342 None gnomAD-3.1.2 6.57E-06
34009 197 L/F None rs760604476 0.1342 None gnomAD-4.0.0 2.72657E-05
34010 198 S/N None None 0.0885 None gnomAD-4.0.0 2.73676E-06
34010 198 S/R None rs727503534 0.0885 None gnomAD-2.1.1 2.41E-05
34010 198 S/R None rs727503534 0.0885 None gnomAD-3.1.2 6.57E-06
34010 198 S/R None rs727503534 0.0885 None gnomAD-4.0.0 1.859E-06
34011 199 G/S None None 0.0906 None gnomAD-4.0.0 1.20032E-06
34012 200 I/S None None 0.2051 None gnomAD-4.0.0 4.10515E-06
34012 200 I/T None None 0.2051 None gnomAD-4.0.0 1.36838E-06
34014 202 P/L None rs1369028729 0.0991 None gnomAD-2.1.1 4.02E-06
34014 202 P/L None rs1369028729 0.0991 None gnomAD-4.0.0 1.59121E-06
34014 202 P/S None rs775271604 0.0991 None gnomAD-2.1.1 8.04E-06
34014 202 P/S None rs775271604 0.0991 None gnomAD-4.0.0 1.36839E-06
34014 202 P/T None rs775271604 0.0991 None gnomAD-2.1.1 8.04E-06
34014 202 P/T None rs775271604 0.0991 None gnomAD-3.1.2 1.31E-05
34014 202 P/T None rs775271604 0.0991 None gnomAD-4.0.0 1.48724E-05
34015 203 F/L None None 0.0835 None gnomAD-4.0.0 1.20032E-06
34018 206 E/A None None 1.0784 None gnomAD-4.0.0 1.20032E-06
34018 206 E/D None None 1.0784 None gnomAD-4.0.0 1.59121E-06
34019 207 T/I None None 0.4893 None gnomAD-4.0.0 1.20032E-06
34020 208 N/I None None 0.632 None gnomAD-4.0.0 1.59122E-06
34021 209 Q/R None None 0.6329 None gnomAD-4.0.0 2.40064E-06
34022 210 Q/R None None 0.3258 None gnomAD-4.0.0 2.73679E-06
34023 211 I/N None rs1254337927 0.1254 None gnomAD-2.1.1 3.18E-05
34023 211 I/N None rs1254337927 0.1254 None gnomAD-3.1.2 6.57E-06
34023 211 I/N None rs1254337927 0.1254 None gnomAD-4.0.0 2.02987E-06
34024 212 I/F None None 0.2106 None gnomAD-4.0.0 1.20037E-06
34024 212 I/M None rs1296908123 0.2106 None gnomAD-2.1.1 4.02E-06
34024 212 I/M None rs1296908123 0.2106 None gnomAD-4.0.0 6.84203E-07
34024 212 I/T None rs779963495 0.2106 None gnomAD-2.1.1 4.02E-06
34024 212 I/T None rs779963495 0.2106 None gnomAD-4.0.0 4.10523E-06
34025 213 E/G None None 0.2909 None gnomAD-4.0.0 1.20032E-06
34025 213 E/K None None 0.2909 None gnomAD-4.0.0 1.36844E-06
34025 213 E/Q None None 0.2909 None gnomAD-4.0.0 2.05267E-06
34026 214 N/S None rs759826620 0.1835 None gnomAD-2.1.1 4.02E-06
34026 214 N/S None rs759826620 0.1835 None gnomAD-4.0.0 1.3684E-06
34027 215 I/V None rs1690594509 0.0466 None gnomAD-3.1.2 6.57E-06
34027 215 I/V None rs1690594509 0.0466 None gnomAD-4.0.0 6.56935E-06
34028 216 M/L None None 0.2439 None gnomAD-4.0.0 1.20045E-06
34030 218 A/P None None 0.1668 None gnomAD-4.0.0 1.59126E-06
34032 220 Y/C None rs1160872040 0.1989 None gnomAD-3.1.2 6.57E-06
34032 220 Y/C None rs1160872040 0.1989 None gnomAD-4.0.0 6.56927E-06
34032 220 Y/H None None 0.1989 None gnomAD-4.0.0 1.59129E-06
34033 221 T/S None None 0.7477 None gnomAD-4.0.0 1.59132E-06
34035 223 D/E None rs370647845 0.2719 None gnomAD-2.1.1 1.43E-05
34035 223 D/E None rs370647845 0.2719 None gnomAD-3.1.2 1.97E-05
34035 223 D/E None rs370647845 0.2719 None gnomAD-4.0.0 1.61122E-05
34035 223 D/N None rs144963736 0.2719 None gnomAD-2.1.1 9.46118E-04
34035 223 D/N None rs144963736 0.2719 None gnomAD-3.1.2 2.52333E-03
34035 223 D/N None rs144963736 0.2719 None 1000 genomes 2.99521E-03
34035 223 D/N None rs144963736 0.2719 None gnomAD-4.0.0 4.97589E-04
34035 223 D/Y None rs144963736 0.2719 None gnomAD-2.1.1 3.18E-05
34035 223 D/Y None rs144963736 0.2719 None gnomAD-3.1.2 6.57E-06
34035 223 D/Y None rs144963736 0.2719 None gnomAD-4.0.0 6.57108E-06
34036 224 E/K None None 0.9502 None gnomAD-4.0.0 2.7369E-06
34037 225 E/A None None 0.5991 None gnomAD-4.0.0 1.20032E-06
34038 226 A/P None None 0.1474 None gnomAD-4.0.0 6.84246E-07
34038 226 A/T None rs1690579265 0.1474 None gnomAD-4.0.0 6.84246E-07
34039 227 F/L None rs1178807411 0.1099 None gnomAD-2.1.1 4.02E-06
34039 227 F/L None rs1178807411 0.1099 None gnomAD-4.0.0 1.59145E-06
34039 227 F/S None rs1553496582 0.1099 None gnomAD-3.1.2 6.57E-06
34039 227 F/S None rs1553496582 0.1099 None gnomAD-4.0.0 1.36337E-05
34041 229 E/G None rs1255397275 0.4569 None gnomAD-2.1.1 4.02E-06
34041 229 E/G None rs1255397275 0.4569 None gnomAD-4.0.0 4.10553E-06
34041 229 E/K None rs377600383 0.4569 None gnomAD-2.1.1 1.178E-04
34041 229 E/K None rs377600383 0.4569 None gnomAD-3.1.2 1.37951E-04
34041 229 E/K None rs377600383 0.4569 None gnomAD-4.0.0 7.49853E-05
34042 230 I/L None rs745822255 0.1666 None gnomAD-2.1.1 1.21E-05
34042 230 I/L None rs745822255 0.1666 None gnomAD-4.0.0 7.52681E-06
34042 230 I/T None rs373173599 0.1666 None gnomAD-2.1.1 7.14E-06
34042 230 I/T None rs373173599 0.1666 None gnomAD-3.1.2 2.63E-05
34042 230 I/T None rs373173599 0.1666 None gnomAD-4.0.0 8.05622E-06
34043 231 S/G None None 0.1676 None gnomAD-4.0.0 4.10558E-06
34044 232 I/L None rs1690568887 0.8636 None gnomAD-4.0.0 6.8427E-06
34044 232 I/S None None 0.8636 None gnomAD-4.0.0 6.84277E-07
34044 232 I/T None rs1349271119 0.8636 None gnomAD-4.0.0 1.36855E-06
34044 232 I/V None rs1690568887 0.8636 None gnomAD-3.1.2 6.57E-06
34044 232 I/V None rs1690568887 0.8636 None gnomAD-4.0.0 4.33795E-06
34045 233 E/D None None 0.3479 None gnomAD-4.0.0 1.59171E-06
34046 234 A/S None None 0.0568 None gnomAD-4.0.0 1.59178E-06
34046 234 A/V None None 0.0568 None gnomAD-4.0.0 1.20032E-06
34047 235 M/I None None 0.1442 None gnomAD-4.0.0 1.5919E-06
34047 235 M/R None rs745563787 0.1442 None gnomAD-2.1.1 4.02E-06
34047 235 M/R None rs745563787 0.1442 None gnomAD-4.0.0 1.59183E-06
34047 235 M/T None rs745563787 0.1442 None gnomAD-2.1.1 4.02E-06
34047 235 M/T None rs745563787 0.1442 None gnomAD-4.0.0 1.59183E-06
34047 235 M/V None rs755244797 0.1442 None gnomAD-2.1.1 8.04E-06
34047 235 M/V None rs755244797 0.1442 None gnomAD-4.0.0 9.55079E-06
34048 236 D/G None None 0.2232 None gnomAD-4.0.0 6.84318E-07
34048 236 D/N None rs778467259 0.2232 None gnomAD-2.1.1 8.04E-06
34048 236 D/N None rs778467259 0.2232 None gnomAD-4.0.0 3.18391E-06
34048 236 D/Y None rs778467259 0.2232 None gnomAD-2.1.1 3.18E-05
34048 236 D/Y None rs778467259 0.2232 None gnomAD-3.1.2 6.57E-06
34048 236 D/Y None rs778467259 0.2232 None gnomAD-4.0.0 6.56918E-06
34050 238 V/I None rs1575280335 0.0794 None gnomAD-4.0.0 7.52809E-06
34051 239 D/E None None 0.4943 None gnomAD-4.0.0 6.84435E-07
34051 239 D/Y None None 0.4943 None gnomAD-4.0.0 1.59237E-06
34052 240 R/G None rs756924372 0.1044 None gnomAD-2.1.1 4.02E-06
34052 240 R/G None rs756924372 0.1044 None gnomAD-4.0.0 1.36891E-06
34052 240 R/Q None rs369245991 0.1044 None gnomAD-2.1.1 3.62E-05
34052 240 R/Q None rs369245991 0.1044 None gnomAD-3.1.2 1.97E-05
34052 240 R/Q None rs369245991 0.1044 None gnomAD-4.0.0 3.90516E-05
34052 240 R/W None rs756924372 0.1044 None gnomAD-4.0.0 4.10673E-06
34055 243 V/A None rs752582515 0.1854 None gnomAD-2.1.1 1.40936E-04
34055 243 V/A None rs752582515 0.1854 None gnomAD-3.1.2 6.57E-06
34055 243 V/A None rs752582515 0.1854 None gnomAD-4.0.0 2.78988E-05
34055 243 V/L None None 0.1854 None gnomAD-4.0.0 1.5929E-06
34057 245 E/A None rs1418716706 0.3814 None gnomAD-2.1.1 4.03E-06
34057 245 E/A None rs1418716706 0.3814 None gnomAD-4.0.0 1.59332E-06
34057 245 E/D None rs767376871 0.3814 None gnomAD-2.1.1 4.03E-06
34057 245 E/D None rs767376871 0.3814 None gnomAD-3.1.2 6.57E-06
34057 245 E/D None rs767376871 0.3814 None gnomAD-4.0.0 6.57004E-06
34057 245 E/K None rs1173824558 0.3814 None gnomAD-2.1.1 4.03E-06
34057 245 E/K None rs1173824558 0.3814 None gnomAD-4.0.0 1.59339E-06
34058 246 R/K None rs886039007 0.2378 None gnomAD-2.1.1 3.18E-05
34058 246 R/K None rs886039007 0.2378 None gnomAD-3.1.2 4.6E-05
34058 246 R/K None rs886039007 0.2378 None gnomAD-4.0.0 8.06061E-06
34059 247 K/R None rs1690541706 0.5645 None gnomAD-4.0.0 6.84671E-07
34060 248 S/P None rs373945220 0.3724 None gnomAD-2.1.1 4.03E-06
34060 248 S/P None rs373945220 0.3724 None gnomAD-3.1.2 6.57E-06
34061 249 R/C None rs879220772 0.0865 None gnomAD-3.1.2 2.63E-05
34061 249 R/C None rs879220772 0.0865 None gnomAD-4.0.0 8.98247E-06
34061 249 R/H None rs774174825 0.0865 None gnomAD-2.1.1 8.07E-06
34061 249 R/H None rs774174825 0.0865 None gnomAD-4.0.0 1.02726E-05
34061 249 R/L None None 0.0865 None gnomAD-4.0.0 6.84839E-07
34062 250 M/K None None 0.0938 None gnomAD-4.0.0 6.84852E-07
34062 250 M/L None None 0.0938 None gnomAD-4.0.0 1.59473E-06
34062 250 M/R None rs1690534459 0.0938 None gnomAD-4.0.0 4.10911E-06
34062 250 M/T None rs1690534459 0.0938 None gnomAD-4.0.0 6.84852E-07
34063 251 T/I None None 0.386 None gnomAD-4.0.0 1.59526E-06
34064 252 A/T None rs200237973 0.1059 None gnomAD-2.1.1 1.72057E-04
34064 252 A/T None rs200237973 0.1059 None gnomAD-3.1.2 2.69343E-04
34064 252 A/T None rs200237973 0.1059 None gnomAD-4.0.0 3.65373E-04
34064 252 A/V None rs149921607 0.1059 None gnomAD-2.1.1 6.37E-05
34064 252 A/V None rs149921607 0.1059 None gnomAD-3.1.2 4.6E-05
34064 252 A/V None rs149921607 0.1059 None 1000 genomes 1.99681E-04
34064 252 A/V None rs149921607 0.1059 None gnomAD-4.0.0 6.82341E-06
34065 253 S/L None rs769936820 0.3626 None gnomAD-2.1.1 4.04E-06
34065 253 S/L None rs769936820 0.3626 None gnomAD-3.1.2 6.57E-06
34065 253 S/L None rs769936820 0.3626 None gnomAD-4.0.0 7.70537E-06
34065 253 S/P None rs1690528772 0.3626 None gnomAD-4.0.0 1.37007E-06
34066 254 E/A None None 0.2764 None gnomAD-4.0.0 1.20032E-06
34067 255 A/D None None 0.0761 None gnomAD-4.0.0 2.74112E-06
34067 255 A/G None rs769172246 0.0761 None gnomAD-4.0.0 6.85278E-07
34067 255 A/P None rs776959962 0.0761 None gnomAD-4.0.0 1.59688E-06
34067 255 A/T None rs776959962 0.0761 None gnomAD-2.1.1 4.05E-06
34067 255 A/T None rs776959962 0.0761 None gnomAD-4.0.0 1.59688E-06
34068 256 L/R None rs747379775 0.1582 None gnomAD-2.1.1 4.05E-06
34068 256 L/R None rs747379775 0.1582 None gnomAD-4.0.0 1.59707E-06
34069 257 Q/R None rs780466011 0.4015 None gnomAD-2.1.1 8.1E-06
34069 257 Q/R None rs780466011 0.4015 None gnomAD-4.0.0 2.05596E-06
34070 258 H/Q None None 0.1103 None gnomAD-4.0.0 6.8546E-07
34072 260 W/R None rs375159973 0.1089 None gnomAD-2.1.1 8.11E-06
34072 260 W/R None rs375159973 0.1089 None gnomAD-3.1.2 1.97E-05
34072 260 W/R None rs375159973 0.1089 CM
MmD-HD
Literature None
34072 260 W/R None rs375159973 0.1089 None gnomAD-4.0.0 2.17264E-05
34074 262 K/N None rs748885900 0.4627 None gnomAD-2.1.1 4.06E-06
34074 262 K/N None rs748885900 0.4627 None gnomAD-3.1.2 6.57E-06
34074 262 K/N None rs748885900 0.4627 None gnomAD-4.0.0 2.57237E-06
34074 262 K/R None None 0.4627 None gnomAD-4.0.0 6.8564E-07
34075 263 Q/E None rs777288641 0.2596 None gnomAD-2.1.1 4.07E-06
34077 265 I/M None None 0.3011 None gnomAD-4.0.0 6.85709E-07
34077 265 I/T None rs1290306844 0.3011 None gnomAD-2.1.1 4.07E-06
34077 265 I/T None rs1290306844 0.3011 None gnomAD-4.0.0 2.05707E-06
34078 266 E/D None rs1043486033 0.5519 None gnomAD-2.1.1 4.07E-06
34078 266 E/D None rs1043486033 0.5519 None gnomAD-4.0.0 1.37137E-06
34078 266 E/K None rs1454101167 0.5519 None gnomAD-2.1.1 4.07E-06
34078 266 E/K None rs1454101167 0.5519 None gnomAD-4.0.0 1.59958E-06
34078 266 E/Q None rs1454101167 0.5519 None gnomAD-3.1.2 6.57E-06
34078 266 E/Q None rs1454101167 0.5519 None gnomAD-4.0.0 6.57039E-06
34079 267 R/K None rs755581166 0.7308 None gnomAD-2.1.1 8.13E-06
34079 267 R/K None rs755581166 0.7308 None gnomAD-4.0.0 2.05707E-06
34080 268 V/D None None 0.1423 None gnomAD-4.0.0 2.40065E-06
34080 268 V/L None rs1467698015 0.1423 None gnomAD-2.1.1 1.44E-05
34080 268 V/L None rs1467698015 0.1423 None gnomAD-3.1.2 1.97E-05
34080 268 V/L None rs1467698015 0.1423 None gnomAD-4.0.0 7.71686E-06
34081 269 S/G None rs752173730 0.3069 None gnomAD-2.1.1 8.13E-06
34081 269 S/G None rs752173730 0.3069 None gnomAD-4.0.0 1.59871E-06
34081 269 S/N None None 0.3069 None gnomAD-4.0.0 6.85606E-07
34082 270 T/I None None 0.6336 None gnomAD-4.0.0 1.37101E-06
34082 270 T/N None rs1375940766 0.6336 None gnomAD-2.1.1 3.19E-05
34082 270 T/N None rs1375940766 0.6336 None gnomAD-3.1.2 6.57E-06
34082 270 T/N None rs1375940766 0.6336 None gnomAD-4.0.0 2.48303E-06
34083 271 K/R None None 0.5156 None gnomAD-4.0.0 1.20032E-06
34084 272 V/A None None 0.4359 None gnomAD-4.0.0 1.59754E-06
34084 272 V/I None rs767405843 0.4359 None gnomAD-2.1.1 4.06E-06
34084 272 V/I None rs767405843 0.4359 None gnomAD-4.0.0 3.195E-06
34085 273 I/M None rs1188731609 0.1749 None gnomAD-2.1.1 4.06E-06
34085 273 I/M None rs1188731609 0.1749 None gnomAD-4.0.0 6.85299E-07
34085 273 I/T None None 0.1749 None gnomAD-4.0.0 1.20032E-06
34086 274 R/I None None 0.8814 None gnomAD-4.0.0 6.85191E-07
34086 274 R/K None None 0.8814 None gnomAD-4.0.0 6.85191E-07
34086 274 R/T None rs569650065 0.8814 None gnomAD-2.1.1 1.22E-05
34086 274 R/T None rs569650065 0.8814 None gnomAD-3.1.2 3.29E-05
34086 274 R/T None rs569650065 0.8814 None 1000 genomes 1.99681E-04
34086 274 R/T None rs569650065 0.8814 None gnomAD-4.0.0 4.96362E-06
34087 275 T/A None None 0.2741 None gnomAD-4.0.0 1.59652E-06
34087 275 T/I None None 0.2741 None gnomAD-4.0.0 6.85123E-07
34087 275 T/K None None 0.2741 None gnomAD-4.0.0 6.85123E-07
34090 278 H/Q None None 0.1048 None gnomAD-4.0.0 1.20032E-06
34090 278 H/Y None None 0.1048 None gnomAD-4.0.0 6.84947E-07
34091 279 R/Q None rs763708375 0.4576 None gnomAD-2.1.1 3.23E-05
34091 279 R/Q None rs763708375 0.4576 None gnomAD-3.1.2 3.94E-05
34091 279 R/Q None rs763708375 0.4576 None gnomAD-4.0.0 7.07026E-05
34091 279 R/W None rs140319117 0.4576 None gnomAD-2.1.1 1.01552E-03
34091 279 R/W None rs140319117 0.4576 None gnomAD-3.1.2 9.7976E-04
34091 279 R/W None rs140319117 0.4576 None 1000 genomes 7.98722E-04
34091 279 R/W None rs140319117 0.4576 HMERF
Literature None
34091 279 R/W None rs140319117 0.4576 None gnomAD-4.0.0 1.37625E-03
34092 280 R/C None rs765435004 0.6487 None gnomAD-2.1.1 2.02E-05
34092 280 R/C None rs765435004 0.6487 None gnomAD-3.1.2 6.57E-06
34092 280 R/C None rs765435004 0.6487 None gnomAD-4.0.0 6.82188E-06
34092 280 R/H None rs757918924 0.6487 None gnomAD-2.1.1 5.66E-05
34092 280 R/H None rs757918924 0.6487 None gnomAD-3.1.2 3.94E-05
34092 280 R/H None rs757918924 0.6487 None gnomAD-4.0.0 9.36361E-05
34094 282 Y/H None None 0.1604 None gnomAD-4.0.0 1.59316E-06
34094 282 Y/S None rs1414440071 0.1604 None gnomAD-2.1.1 3.19E-05
34094 282 Y/S None rs1414440071 0.1604 None gnomAD-3.1.2 6.57E-06
34094 282 Y/S None rs1414440071 0.1604 None gnomAD-4.0.0 1.30194E-05
34095 283 H/P None rs1437743604 0.785 None gnomAD-3.1.2 1.97E-05
34095 283 H/P None rs1437743604 0.785 None gnomAD-4.0.0 5.12826E-06
34096 284 T/I None rs375002174 0.5334 None gnomAD-2.1.1 8.07E-06
34096 284 T/I None rs375002174 0.5334 None gnomAD-3.1.2 6.57E-06
34096 284 T/I None rs375002174 0.5334 None gnomAD-4.0.0 6.19917E-06
34096 284 T/N None rs375002174 0.5334 None gnomAD-2.1.1 5.24E-05
34096 284 T/N None rs375002174 0.5334 None gnomAD-3.1.2 5.26E-05
34096 284 T/N None rs375002174 0.5334 None gnomAD-4.0.0 3.84349E-05
34097 285 L/M None rs775734528 0.1869 None gnomAD-2.1.1 4.03E-06
34097 285 L/M None rs775734528 0.1869 None gnomAD-4.0.0 1.59257E-06
34097 285 L/P None rs1324222809 0.1869 None gnomAD-2.1.1 8.06E-06
34097 285 L/P None rs1324222809 0.1869 None gnomAD-4.0.0 3.42212E-06
34097 285 L/Q None None 0.1869 None gnomAD-4.0.0 6.84423E-07
34097 285 L/R None None 0.1869 None gnomAD-4.0.0 1.36885E-06
34098 286 I/F None None 0.2745 None gnomAD-4.0.0 1.59223E-06
34098 286 I/T None rs1480810435 0.2745 None gnomAD-3.1.2 6.57E-06
34098 286 I/T None rs1480810435 0.2745 None gnomAD-4.0.0 6.57289E-06
34099 287 K/N None rs772381654 0.6935 None gnomAD-2.1.1 4.03E-06
34099 287 K/N None rs772381654 0.6935 None gnomAD-4.0.0 1.592E-06
34099 287 K/R None None 0.6935 None gnomAD-4.0.0 1.3687E-06
34101 289 D/N None None 1.1201 None gnomAD-4.0.0 1.5918E-06
34102 290 L/R None rs748971754 0.4672 None gnomAD-2.1.1 2.82E-05
34102 290 L/R None rs748971754 0.4672 None gnomAD-3.1.2 6.57E-06
34102 290 L/R None rs748971754 0.4672 None gnomAD-4.0.0 6.40649E-06
34103 291 N/D None None 0.9786 None gnomAD-4.0.0 6.84271E-07
34103 291 N/H None None 0.9786 None gnomAD-4.0.0 1.36854E-06
34103 291 N/I None rs557630306 0.9786 None gnomAD-2.1.1 2.86E-05
34103 291 N/I None rs557630306 0.9786 None gnomAD-3.1.2 2.63E-05
34103 291 N/I None rs557630306 0.9786 None 1000 genomes 1.99681E-04
34103 291 N/I None rs557630306 0.9786 None gnomAD-4.0.0 5.57726E-06
34103 291 N/S None rs557630306 0.9786 None gnomAD-2.1.1 4.02E-06
34103 291 N/S None rs557630306 0.9786 None gnomAD-3.1.2 6.57E-06
34103 291 N/S None rs557630306 0.9786 None gnomAD-4.0.0 1.23939E-06
34104 292 M/I None None 0.2006 None gnomAD-4.0.0 2.73697E-06
34104 292 M/R None rs769416699 0.2006 None gnomAD-2.1.1 4.02E-06
34104 292 M/R None rs769416699 0.2006 None gnomAD-4.0.0 6.84235E-07
34104 292 M/T None rs769416699 0.2006 None gnomAD-4.0.0 6.84235E-07
34104 292 M/V None rs1559035751 0.2006 None gnomAD-2.1.1 4.02E-06
34104 292 M/V None rs1559035751 0.2006 None gnomAD-4.0.0 2.05274E-06
34105 293 V/D None rs747672013 0.5378 None gnomAD-2.1.1 4.02E-06
34105 293 V/D None rs747672013 0.5378 None gnomAD-4.0.0 1.59135E-06
34106 294 V/M None rs780748204 0.2061 None gnomAD-2.1.1 4.02E-06
34108 296 A/P None None 0.1319 None gnomAD-4.0.0 1.36845E-06
34108 296 A/T None None 0.1319 None gnomAD-4.0.0 1.36845E-06
34108 296 A/V None None 0.1319 None gnomAD-4.0.0 6.84224E-07
34109 297 A/T None rs786205293 0.0738 None gnomAD-2.1.1 8.04E-06
34109 297 A/T None rs786205293 0.0738 None gnomAD-4.0.0 4.10524E-06
34109 297 A/V None rs1475114423 0.0738 None gnomAD-2.1.1 4.02E-06
34109 297 A/V None rs1475114423 0.0738 None gnomAD-4.0.0 3.18251E-06
34110 298 R/Q None rs565347600 0.1495 None gnomAD-2.1.1 3.22E-05
34110 298 R/Q None rs565347600 0.1495 None gnomAD-3.1.2 1.97E-05
34110 298 R/Q None rs565347600 0.1495 None 1000 genomes 1.99681E-04
34110 298 R/Q None rs565347600 0.1495 None gnomAD-4.0.0 1.61106E-05
34110 298 R/W None rs754873937 0.1495 None gnomAD-2.1.1 4.29E-05
34110 298 R/W None rs754873937 0.1495 None gnomAD-3.1.2 5.26E-05
34110 298 R/W None rs754873937 0.1495 None gnomAD-4.0.0 1.48729E-05
34112 300 S/A None rs889518198 0.0853 None gnomAD-3.1.2 6.57E-06
34112 300 S/A None rs889518198 0.0853 None gnomAD-4.0.0 1.23931E-06
34112 300 S/F None rs1252666695 0.0853 None gnomAD-2.1.1 4.02E-06
34112 300 S/F None rs1252666695 0.0853 None gnomAD-4.0.0 1.59114E-06
34112 300 S/P None None 0.0853 None gnomAD-4.0.0 6.84182E-07
34113 301 C/W None rs794729561 0.3694 None gnomAD-4.0.0 1.59107E-06
34113 301 C/Y None None 0.3694 None gnomAD-4.0.0 1.20032E-06
34115 303 G/R None None 0.1546 None gnomAD-4.0.0 1.59105E-06
34116 304 A/T None None 0.221 None gnomAD-4.0.0 1.36834E-06
34116 304 A/V None rs1690458726 0.221 None gnomAD-3.1.2 6.57E-06
34116 304 A/V None rs1690458726 0.221 None gnomAD-4.0.0 6.57168E-06
34117 305 I/V None None 0.2283 None gnomAD-4.0.0 1.59103E-06
34118 306 R/Q None rs551905996 0.2024 None gnomAD-2.1.1 4.64E-05
34118 306 R/Q None rs551905996 0.2024 None gnomAD-3.1.2 9.86E-05
34118 306 R/Q None rs551905996 0.2024 None 1000 genomes 1.99681E-04
34118 306 R/Q None rs551905996 0.2024 None gnomAD-4.0.0 3.77956E-05
34119 307 S/F None None 0.3401 None gnomAD-4.0.0 3.60097E-06
34119 307 S/P None rs1690455117 0.3401 None gnomAD-4.0.0 1.59101E-06
34120 308 Q/P None None 0.7617 None gnomAD-4.0.0 1.20046E-06
34122 310 G/A None None 0.6028 None gnomAD-4.0.0 1.59098E-06
34122 310 G/R None rs1195753595 0.6028 None gnomAD-2.1.1 4.02E-06
34122 310 G/R None rs1195753595 0.6028 None gnomAD-4.0.0 1.591E-06
34123 311 V/A None rs1060500587 0.255 None gnomAD-2.1.1 4.02E-06
34123 311 V/A None rs1060500587 0.255 None gnomAD-4.0.0 1.59097E-06
34123 311 V/G None rs1060500587 0.255 None gnomAD-3.1.2 1.32E-05
34123 311 V/G None rs1060500587 0.255 None gnomAD-4.0.0 3.84472E-06
34123 311 V/M None rs1690450339 0.255 None gnomAD-3.1.2 6.57E-06
34123 311 V/M None rs1690450339 0.255 None gnomAD-4.0.0 2.02973E-06
34124 312 S/N None rs1271436308 0.2806 None gnomAD-2.1.1 7.13E-06
34124 312 S/N None rs1271436308 0.2806 None gnomAD-3.1.2 6.57E-06
34124 312 S/N None rs1271436308 0.2806 None gnomAD-4.0.0 6.19627E-06
34125 313 V/A None rs762110611 0.4147 None gnomAD-2.1.1 4.02E-06
34125 313 V/A None rs762110611 0.4147 None gnomAD-3.1.2 6.57E-06
34125 313 V/A None rs762110611 0.4147 None gnomAD-4.0.0 6.40403E-06
34125 313 V/I None rs765603620 0.4147 None gnomAD-2.1.1 1.2E-05
34125 313 V/I None rs765603620 0.4147 None gnomAD-4.0.0 2.73662E-06
34125 313 V/L None rs765603620 0.4147 None gnomAD-2.1.1 4.02E-06
34125 313 V/L None rs765603620 0.4147 None gnomAD-4.0.0 4.10493E-06
34126 314 A/V None rs1280930563 0.1078 None gnomAD-3.1.2 6.57E-06
34126 314 A/V None rs1280930563 0.1078 None gnomAD-4.0.0 6.4049E-06
34127 315 K/E None rs1327804969 0.6285 None gnomAD-3.1.2 1.31E-05
34127 315 K/E None rs1327804969 0.6285 None gnomAD-4.0.0 3.04471E-06
34128 316 V/G None None 0.0906 None gnomAD-4.0.0 2.05247E-06
34128 316 V/L None rs753871187 0.0906 None gnomAD-2.1.1 1.61E-05
34128 316 V/L None rs753871187 0.0906 None gnomAD-4.0.0 1.43188E-05
34130 318 V/G None None 0.1266 None gnomAD-4.0.0 1.591E-06
34131 319 A/T None None 0.3402 None gnomAD-4.0.0 2.40064E-06
34132 320 S/F None None 0.7101 None gnomAD-4.0.0 1.20032E-06
34132 320 S/P None rs876658098 0.7101 None gnomAD-2.1.1 3.18E-05
34132 320 S/P None rs876658098 0.7101 None gnomAD-3.1.2 6.57E-06
34132 320 S/P None rs876658098 0.7101 None gnomAD-4.0.0 6.57082E-06
34132 320 S/T None rs876658098 0.7101 None gnomAD-2.1.1 4.01E-06
34132 320 S/T None rs876658098 0.7101 None gnomAD-4.0.0 2.05246E-06
34133 321 I/L None rs1328046092 0.9 None gnomAD-2.1.1 4.02E-06
34133 321 I/L None rs1328046092 0.9 None gnomAD-3.1.2 6.57E-06
34133 321 I/L None rs1328046092 0.9 None gnomAD-4.0.0 2.47856E-06
34133 321 I/T None rs764179161 0.9 None gnomAD-2.1.1 3.92E-05
34133 321 I/T None rs764179161 0.9 None gnomAD-3.1.2 5.26E-05
34133 321 I/T None rs764179161 0.9 None gnomAD-4.0.0 4.2136E-05
34133 321 I/V None None 0.9 None gnomAD-4.0.0 6.84155E-07
34134 322 E/D None None 0.6125 None gnomAD-4.0.0 1.59096E-06
34134 322 E/K None rs1690433095 0.6125 None gnomAD-3.1.2 6.57E-06
34134 322 E/K None rs1690433095 0.6125 None gnomAD-4.0.0 5.12333E-06
34135 323 I/T None rs917268577 0.5633 None gnomAD-4.0.0 2.7366E-06