Select a Data Table to View:



Download domain sequence (FASTA)
Export SAV table to CSV

Select columns to include

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 - - -
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 0.1568 None gnomAD-4.0.0 3.18212E-06
33814 2 E/K None rs760254702 0.1568 None gnomAD-2.1.1 8.04E-06
33814 2 E/K None rs760254702 0.1568 None gnomAD-4.0.0 4.77327E-06
33814 2 E/V None None 0.1568 None gnomAD-4.0.0 1.20032E-06
33816 4 Y/C None None 0.3191 None gnomAD-4.0.0 1.36836E-06
33817 5 E/K None rs771596824 0.7439 None gnomAD-2.1.1 2.41E-05
33817 5 E/K None rs771596824 0.7439 None gnomAD-3.1.2 1.31E-05
33817 5 E/K None rs771596824 0.7439 None gnomAD-4.0.0 1.05335E-05
33819 7 Y/H None None 0.0911 None gnomAD-4.0.0 1.20032E-06
33820 8 M/T None rs995436105 0.6316 None gnomAD-3.1.2 6.57E-06
33820 8 M/T None rs995436105 0.6316 None gnomAD-4.0.0 6.57142E-06
33821 9 I/L None None 0.2739 None gnomAD-4.0.0 3.60097E-06
33821 9 I/T None None 0.2739 None gnomAD-4.0.0 1.20032E-06
33822 10 A/V None rs745421965 0.1596 None gnomAD-2.1.1 4.02E-06
33822 10 A/V None rs745421965 0.1596 None gnomAD-3.1.2 6.57E-06
33822 10 A/V None rs745421965 0.1596 None gnomAD-4.0.0 2.02995E-06
33823 11 E/K None rs778556139 0.2328 None gnomAD-2.1.1 4.02E-06
33823 11 E/K None rs778556139 0.2328 None gnomAD-4.0.0 3.18241E-06
33825 13 L/F None rs1389553978 0.0957 None gnomAD-2.1.1 4.02E-06
33825 13 L/F None rs1389553978 0.0957 None gnomAD-4.0.0 1.36841E-06
33825 13 L/I None None 0.0957 None gnomAD-4.0.0 6.84205E-07
33825 13 L/P None rs1559044679 0.0957 None gnomAD-2.1.1 4.02E-06
33825 13 L/P None rs1559044679 0.0957 None gnomAD-4.0.0 1.59121E-06
33827 15 R/C None rs372067498 0.3668 None gnomAD-2.1.1 3.22E-05
33827 15 R/C None rs372067498 0.3668 None gnomAD-3.1.2 1.97E-05
33827 15 R/C None rs372067498 0.3668 None gnomAD-4.0.0 2.16907E-05
33827 15 R/H None rs376403708 0.3668 None gnomAD-2.1.1 3.68023E-04
33827 15 R/H None rs376403708 0.3668 None gnomAD-3.1.2 2.82582E-04
33827 15 R/H None rs376403708 0.3668 None 1000 genomes 1.99681E-04
33827 15 R/H None rs376403708 0.3668 None gnomAD-4.0.0 1.5739E-04
33827 15 R/P None None 0.3668 None gnomAD-4.0.0 6.84212E-07
33827 15 R/S None rs372067498 0.3668 None gnomAD-3.1.2 6.58E-06
33827 15 R/S None rs372067498 0.3668 None gnomAD-4.0.0 6.57566E-06
33828 16 G/D None rs1690860089 0.1672 None gnomAD-3.1.2 6.57E-06
33828 16 G/D None rs1690860089 0.1672 None gnomAD-4.0.0 1.23938E-06
33828 16 G/V None None 0.1672 None gnomAD-4.0.0 1.36842E-06
33829 17 E/K None rs755890947 0.3122 None gnomAD-2.1.1 4.02E-06
33829 17 E/K None rs755890947 0.3122 None gnomAD-4.0.0 1.59124E-06
33830 18 F/I None rs1575289681 0.2325 None gnomAD-4.0.0 1.5912E-06
33830 18 F/Y None None 0.2325 None gnomAD-4.0.0 1.5912E-06
33831 19 G/R None None 0.1074 None gnomAD-4.0.0 1.20032E-05
33832 20 I/T None rs1476820246 0.1603 None gnomAD-2.1.1 7.14E-06
33832 20 I/T None rs1476820246 0.1603 None gnomAD-3.1.2 1.31E-05
33832 20 I/T None rs1476820246 0.1603 None gnomAD-4.0.0 1.1774E-05
33834 22 H/R None None 0.1726 None gnomAD-4.0.0 2.05261E-06
33834 22 H/Y None rs534907370 0.1726 None gnomAD-2.1.1 8.05E-06
33834 22 H/Y None rs534907370 0.1726 None gnomAD-3.1.2 6.58E-06
33834 22 H/Y None rs534907370 0.1726 None 1000 genomes 1.99681E-04
33834 22 H/Y None rs534907370 0.1726 None gnomAD-4.0.0 6.81644E-06
33835 23 R/C None rs781516399 0.2449 None gnomAD-2.1.1 8.05E-06
33835 23 R/C None rs781516399 0.2449 None gnomAD-4.0.0 7.95699E-06
33835 23 R/H None rs373854384 0.2449 None gnomAD-2.1.1 3.57E-05
33835 23 R/H None rs373854384 0.2449 None gnomAD-3.1.2 1.31E-05
33835 23 R/H None rs373854384 0.2449 None gnomAD-4.0.0 1.48727E-05
33836 24 C/S None rs766439271 0.0800 None gnomAD-2.1.1 1.14305E-04
33836 24 C/S None rs766439271 0.0800 None gnomAD-3.1.2 6.57E-05
33836 24 C/S None rs766439271 0.0800 None gnomAD-4.0.0 1.00388E-04
33836 24 C/W None None 0.0800 None gnomAD-4.0.0 6.84207E-07
33837 25 V/A None rs1274232213 0.2062 None gnomAD-2.1.1 4.02E-06
33837 25 V/A None rs1274232213 0.2062 None gnomAD-4.0.0 5.47366E-06
33838 26 E/K None rs750880689 0.0953 None gnomAD-2.1.1 4.02E-06
33838 26 E/K None rs750880689 0.0953 None gnomAD-4.0.0 3.1826E-06
33839 27 T/I None None 0.5322 None gnomAD-4.0.0 1.59131E-06
33840 28 S/F None rs1202069310 0.5327 None gnomAD-3.1.2 1.31E-05
33840 28 S/F None rs1202069310 0.5327 None gnomAD-4.0.0 5.12462E-06
33840 28 S/T None None 0.5327 None gnomAD-4.0.0 1.59125E-06
33842 30 K/E None rs2154136431 0.6369 None gnomAD-3.1.2 6.57E-06
33842 30 K/E None rs2154136431 0.6369 None gnomAD-4.0.0 6.56573E-06
33843 31 K/N None rs377406091 0.3053 None gnomAD-2.1.1 4.02E-06
33843 31 K/N None rs377406091 0.3053 None gnomAD-3.1.2 6.57E-06
33843 31 K/N None rs377406091 0.3053 None gnomAD-4.0.0 7.68634E-06
33844 32 T/I None rs1559043994 0.2325 None gnomAD-2.1.1 4.02E-06
33844 32 T/I None rs1559043994 0.2325 None gnomAD-3.1.2 6.57E-06
33844 32 T/I None rs1559043994 0.2325 None gnomAD-4.0.0 2.56211E-06
33845 33 Y/H None rs1227515280 0.1229 None gnomAD-2.1.1 4.02E-06
33845 33 Y/H None rs1227515280 0.1229 None gnomAD-4.0.0 6.36468E-06
33846 34 M/I None rs1690830241 0.0785 None gnomAD-4.0.0 1.20032E-06
33846 34 M/V None rs565546848 0.0785 None gnomAD-2.1.1 1.21E-05
33846 34 M/V None rs565546848 0.0785 None gnomAD-3.1.2 2.63E-05
33846 34 M/V None rs565546848 0.0785 None 1000 genomes 1.99681E-04
33846 34 M/V None rs565546848 0.0785 None gnomAD-4.0.0 8.05491E-06
33847 35 A/D None None 0.0996 None gnomAD-4.0.0 1.3684E-06
33847 35 A/V None rs1690829202 0.0996 None gnomAD-4.0.0 6.84199E-07
33848 36 K/N None rs774004640 0.0865 None gnomAD-2.1.1 2.01E-05
33848 36 K/N None rs774004640 0.0865 None gnomAD-4.0.0 2.05253E-05
33848 36 K/R None rs759258408 0.0865 None gnomAD-2.1.1 4.02E-06
33848 36 K/R None rs759258408 0.0865 None gnomAD-4.0.0 1.59109E-06
33849 37 F/C None None 0.1847 None gnomAD-4.0.0 2.73673E-06
33850 38 V/D None None 0.1276 None gnomAD-4.0.0 6.84178E-07
33850 38 V/G None None 0.1276 None gnomAD-4.0.0 6.84178E-07
33850 38 V/I None rs1176483211 0.1276 None gnomAD-3.1.2 6.57E-06
33850 38 V/I None rs1176483211 0.1276 None gnomAD-4.0.0 6.57099E-06
33851 39 K/N None None 0.3049 None gnomAD-4.0.0 2.40064E-06
33851 39 K/Q None rs1394900631 0.3049 None gnomAD-2.1.1 8.04E-06
33851 39 K/Q None rs1394900631 0.3049 None gnomAD-4.0.0 3.18224E-06
33851 39 K/T None rs770508302 0.3049 None gnomAD-2.1.1 4.02E-06
33851 39 K/T None rs770508302 0.3049 None gnomAD-4.0.0 1.59113E-06
33853 41 K/E None rs727505163 0.4631 None gnomAD-2.1.1 7.14E-06
33853 41 K/E None rs727505163 0.4631 None gnomAD-3.1.2 6.57E-06
33853 41 K/E None rs727505163 0.4631 None gnomAD-4.0.0 3.84262E-06
33854 42 G/R None None 0.3629 None gnomAD-4.0.0 6.84185E-07
33855 43 T/A None None 0.8319 None gnomAD-4.0.0 1.20039E-06
33855 43 T/P None None 0.8319 None gnomAD-4.0.0 1.20039E-06
33857 45 Q/H None rs1690812361 0.0954 None gnomAD-4.0.0 1.36838E-06
33857 45 Q/R None None 0.0954 None gnomAD-4.0.0 1.20032E-06
33858 46 V/D None rs1172459056 0.4640 None gnomAD-3.1.2 1.31E-05
33858 46 V/D None rs1172459056 0.4640 None gnomAD-4.0.0 1.85904E-06
33858 46 V/G None None 0.4640 None gnomAD-4.0.0 2.73674E-06
33858 46 V/L None rs1060500584 0.4640 None gnomAD-3.1.2 6.57E-06
33858 46 V/L None rs1060500584 0.4640 None gnomAD-4.0.0 6.57117E-06
33860 48 V/I None rs141082389 0.1090 None gnomAD-2.1.1 4.02E-06
33860 48 V/I None rs141082389 0.1090 None gnomAD-3.1.2 2.63E-05
33860 48 V/I None rs141082389 0.1090 None 1000 genomes 1.99681E-04
33860 48 V/I None rs141082389 0.1090 None gnomAD-4.0.0 8.05524E-06
33863 51 E/G None None 0.1064 None gnomAD-4.0.0 4.80129E-06
33863 51 E/K None rs1690803197 0.1064 None gnomAD-4.0.0 3.18234E-06
33864 52 I/V None None 0.1557 None gnomAD-4.0.0 2.0526E-06
33866 54 I/V None None 0.1726 None gnomAD-4.0.0 1.59122E-06
33867 55 L/M None None 0.1207 None gnomAD-4.0.0 1.36841E-06
33867 55 L/V None rs76194811 0.1207 None gnomAD-2.1.1 8.03E-05
33867 55 L/V None rs76194811 0.1207 None gnomAD-3.1.2 2.63E-05
33867 55 L/V None rs76194811 0.1207 None 1000 genomes 1.99681E-04
33867 55 L/V None rs76194811 0.1207 None gnomAD-4.0.0 4.77136E-05
33868 56 N/I None rs748022692 0.3897 None gnomAD-2.1.1 4.02E-06
33868 56 N/I None rs748022692 0.3897 None gnomAD-4.0.0 1.59122E-06
33869 57 I/T None rs1253957228 0.5758 None gnomAD-2.1.1 8.03E-06
33869 57 I/T None rs1253957228 0.5758 None gnomAD-3.1.2 1.97E-05
33869 57 I/T None rs1253957228 0.5758 None gnomAD-4.0.0 9.91477E-06
33870 58 A/G None rs935055445 0.1496 None gnomAD-2.1.1 4.02E-06
33870 58 A/G None rs935055445 0.1496 None gnomAD-4.0.0 4.78957E-06
33871 59 R/K None rs1456770394 0.1810 None gnomAD-2.1.1 4.02E-06
33871 59 R/K None rs1456770394 0.1810 None gnomAD-3.1.2 1.31E-05
33871 59 R/K None rs1456770394 0.1810 None gnomAD-4.0.0 3.84353E-06
33871 59 R/S None rs797046068 0.1810 None gnomAD-4.0.0 7.52649E-06
33872 60 H/N None rs1690791818 0.1621 None gnomAD-4.0.0 1.59142E-06
33872 60 H/Q None rs1275685669 0.1621 None gnomAD-2.1.1 4.02E-06
33872 60 H/Q None rs1275685669 0.1621 None gnomAD-4.0.0 6.84242E-07
33872 60 H/R None None 0.1621 None gnomAD-4.0.0 1.20032E-06
33873 61 R/G None None 0.4242 None gnomAD-4.0.0 1.59141E-06
33873 61 R/T None None 0.4242 None gnomAD-4.0.0 1.59144E-06
33875 63 I/V None rs1343609511 0.0912 None gnomAD-2.1.1 4.02E-06
33875 63 I/V None rs1343609511 0.0912 None gnomAD-4.0.0 2.05279E-06
33877 65 H/N None rs1690786587 0.2573 None gnomAD-4.0.0 6.84306E-07
33877 65 H/Q None rs755256603 0.2573 None gnomAD-2.1.1 4.02E-06
33877 65 H/Q None rs755256603 0.2573 None gnomAD-4.0.0 6.84314E-07
33877 65 H/Y None rs1690786587 0.2573 None gnomAD-4.0.0 6.84306E-07
33878 66 L/F None rs1235957959 0.0905 None gnomAD-4.0.0 6.8432E-07
33879 67 H/R None rs762414833 0.2045 None gnomAD-2.1.1 1.21E-05
33879 67 H/R None rs762414833 0.2045 None gnomAD-4.0.0 4.10608E-06
33879 67 H/Y None rs1247427318 0.2045 None gnomAD-2.1.1 3.18E-05
33879 67 H/Y None rs1247427318 0.2045 None gnomAD-3.1.2 1.31E-05
33879 67 H/Y None rs1247427318 0.2045 None gnomAD-4.0.0 6.40828E-06
33880 68 E/A None rs1690780313 0.1430 None gnomAD-4.0.0 1.36875E-06
33880 68 E/Q None None 0.1430 None gnomAD-4.0.0 1.20032E-06
33883 71 E/G None rs1329397426 0.4389 None gnomAD-2.1.1 4.03E-06
33883 71 E/G None rs1329397426 0.4389 None gnomAD-4.0.0 1.59281E-06
33883 71 E/K None None 0.4389 None gnomAD-4.0.0 1.20032E-06
33884 72 S/R None rs758420542 0.1927 None gnomAD-2.1.1 4.03E-06
33884 72 S/R None rs758420542 0.1927 None gnomAD-4.0.0 1.59328E-06
33885 73 M/I None rs777177959 0.5816 None gnomAD-2.1.1 8.06E-06
33885 73 M/I None rs777177959 0.5816 None gnomAD-3.1.2 6.57E-06
33885 73 M/I None rs777177959 0.5816 None gnomAD-4.0.0 1.42606E-05
33885 73 M/T None None 0.5816 None gnomAD-4.0.0 1.20032E-06
33886 74 E/D None rs1171862038 0.4840 None gnomAD-4.0.0 1.36932E-06
33886 74 E/Q None None 0.4840 None gnomAD-4.0.0 2.40065E-06
33887 75 E/K None rs1455680068 0.1780 None gnomAD-2.1.1 1.61E-05
33887 75 E/K None rs1455680068 0.1780 None gnomAD-3.1.2 1.97E-05
33887 75 E/K None rs1455680068 0.1780 None gnomAD-4.0.0 4.34036E-06
33888 76 L/S None rs549890031 0.1030 None gnomAD-2.1.1 8.07E-06
33888 76 L/S None rs549890031 0.1030 None gnomAD-3.1.2 6.57E-06
33888 76 L/S None rs549890031 0.1030 None 1000 genomes 1.99681E-04
33888 76 L/S None rs549890031 0.1030 None gnomAD-4.0.0 1.86014E-06
33889 77 V/I None rs34924609 0.0787 None gnomAD-2.1.1 3.11952E-03
33889 77 V/I None rs34924609 0.0787 None gnomAD-3.1.2 3.52187E-03
33889 77 V/I None rs34924609 0.0787 None 1000 genomes 1.19808E-03
33889 77 V/I None rs34924609 0.0787 None gnomAD-4.0.0 5.39094E-03
33890 78 M/I None None 0.1104 None gnomAD-4.0.0 6.84854E-07
33890 78 M/L None rs754298968 0.1104 None gnomAD-2.1.1 1.21E-05
33890 78 M/L None rs754298968 0.1104 None gnomAD-4.0.0 6.37696E-06
33893 81 E/D None rs764487443 0.1375 None gnomAD-2.1.1 1.21E-05
33893 81 E/D None rs764487443 0.1375 None gnomAD-3.1.2 1.31E-05
33893 81 E/D None rs764487443 0.1375 None gnomAD-4.0.0 6.20361E-06
33893 81 E/K None None 0.1375 None gnomAD-4.0.0 3.60097E-06
33894 82 F/I None None 0.2360 None gnomAD-4.0.0 2.40065E-06
33895 83 I/L None rs759278414 0.1085 None gnomAD-4.0.0 6.85192E-07
33895 83 I/T None rs1575286728 0.1085 None gnomAD-3.1.2 6.57E-06
33895 83 I/T None rs1575286728 0.1085 None gnomAD-4.0.0 3.10224E-06
33895 83 I/V None rs759278414 0.1085 None gnomAD-2.1.1 4.05E-06
33895 83 I/V None rs759278414 0.1085 None gnomAD-3.1.2 6.57E-06
33895 83 I/V None rs759278414 0.1085 None gnomAD-4.0.0 1.86142E-06
33896 84 S/L None rs376813674 0.2839 None gnomAD-2.1.1 4.05E-06
33896 84 S/L None rs376813674 0.2839 None gnomAD-3.1.2 1.97E-05
33896 84 S/L None rs376813674 0.2839 None gnomAD-4.0.0 4.96493E-06
33897 85 G/V None None 0.0857 None gnomAD-4.0.0 1.20033E-06
33898 86 L/F None rs371930491 0.1554 None gnomAD-4.0.0 2.74189E-06
33898 86 L/P None rs1575286611 0.1554 None gnomAD-4.0.0 2.40067E-06
33899 87 D/G None rs794729560 0.0688 None gnomAD-2.1.1 4.06E-06
33899 87 D/G None rs794729560 0.0688 None gnomAD-4.0.0 3.1973E-06
33901 89 F/S None None 0.0937 None gnomAD-4.0.0 6.85716E-07
33902 90 E/K None rs762592218 0.1095 None gnomAD-2.1.1 3.18E-05
33902 90 E/K None rs762592218 0.1095 None gnomAD-3.1.2 6.57E-06
33902 90 E/K None rs762592218 0.1095 None gnomAD-4.0.0 2.48411E-06
33902 90 E/Q None rs762592218 0.1095 None gnomAD-2.1.1 4.06E-06
33902 90 E/Q None rs762592218 0.1095 None gnomAD-4.0.0 4.11508E-06
33903 91 R/C None rs772574722 0.0939 None gnomAD-2.1.1 4.69E-05
33903 91 R/C None rs772574722 0.0939 None gnomAD-3.1.2 3.94E-05
33903 91 R/C None rs772574722 0.0939 None gnomAD-4.0.0 2.60895E-05
33903 91 R/H None rs72629782 0.0939 None gnomAD-2.1.1 2.41827E-04
33903 91 R/H None rs72629782 0.0939 None gnomAD-3.1.2 1.90576E-04
33903 91 R/H None rs72629782 0.0939 None 1000 genomes 5.99042E-04
33903 91 R/H None rs72629782 0.0939 Other
Literature None
33903 91 R/H None rs72629782 0.0939 None gnomAD-4.0.0 9.25565E-05
33903 91 R/L None rs72629782 0.0939 None gnomAD-4.0.0 1.37218E-06
33903 91 R/S None None 0.0939 None gnomAD-3.1.2 6.57E-06
33903 91 R/S None None 0.0939 None gnomAD-4.0.0 2.48471E-06
33904 92 I/T None rs748029947 0.0965 None gnomAD-2.1.1 4.07E-06
33904 92 I/T None rs748029947 0.0965 None gnomAD-4.0.0 7.54692E-06
33904 92 I/V None None 0.0965 None gnomAD-4.0.0 1.08029E-05
33906 94 T/I None rs776487376 0.3074 None gnomAD-2.1.1 4.08E-06
33906 94 T/I None rs776487376 0.3074 None gnomAD-4.0.0 6.8625E-07
33906 94 T/P None None 0.3074 None gnomAD-4.0.0 1.20032E-06
33906 94 T/R None None 0.3074 None gnomAD-4.0.0 2.745E-06
33909 97 F/I None rs1015489403 0.1510 None gnomAD-3.1.2 6.57E-06
33909 97 F/I None rs1015489403 0.1510 None gnomAD-4.0.0 6.56944E-06
33909 97 F/V None rs1015489403 0.1510 None gnomAD-2.1.1 8.16E-06
33909 97 F/V None rs1015489403 0.1510 None gnomAD-3.1.2 6.57E-06
33909 97 F/V None rs1015489403 0.1510 None gnomAD-4.0.0 3.72865E-06
33910 98 E/K None rs943777958 0.5829 None gnomAD-2.1.1 2.53E-05
33910 98 E/K None rs943777958 0.5829 None gnomAD-3.1.2 1.31E-05
33910 98 E/K None rs943777958 0.5829 None gnomAD-4.0.0 2.29979E-05
33911 99 L/F None None 0.1243 None gnomAD-4.0.0 1.20032E-06
33912 100 N/S None rs1436628843 0.1323 None gnomAD-2.1.1 4.08E-06
33912 100 N/S None rs1436628843 0.1323 None gnomAD-3.1.2 6.57E-06
33912 100 N/S None rs1436628843 0.1323 None gnomAD-4.0.0 2.5788E-06
33913 101 E/G None None 0.1006 None gnomAD-4.0.0 2.40064E-06
33913 101 E/K None rs1376195366 0.1006 None gnomAD-2.1.1 4.09E-06
33913 101 E/K None rs1376195366 0.1006 None gnomAD-4.0.0 2.05995E-06
33913 101 E/Q None rs1376195366 0.1006 None gnomAD-4.0.0 6.86651E-07
33914 102 R/T None None 0.2435 None gnomAD-4.0.0 1.60466E-06
33915 103 E/K None rs1690736229 0.1494 None gnomAD-3.1.2 6.57E-06
33915 103 E/K None rs1690736229 0.1494 None gnomAD-4.0.0 6.57047E-06
33917 105 V/I None rs768379988 0.0823 None gnomAD-2.1.1 1.63E-05
33917 105 V/I None rs768379988 0.0823 None gnomAD-3.1.2 6.57E-06
33917 105 V/I None rs768379988 0.0823 None gnomAD-4.0.0 1.67863E-05
33917 105 V/L None rs768379988 0.0823 None gnomAD-4.0.0 6.86694E-07
33918 106 S/G None rs1363833448 0.1844 None gnomAD-2.1.1 3.18E-05
33918 106 S/G None rs1363833448 0.1844 None gnomAD-3.1.2 6.57E-06
33918 106 S/G None rs1363833448 0.1844 None gnomAD-4.0.0 6.5697E-06
33918 106 S/R None rs952080555 0.1844 None gnomAD-2.1.1 4.09E-06
33918 106 S/R None rs952080555 0.1844 None gnomAD-4.0.0 3.20916E-06
33919 107 Y/F None None 0.1069 None gnomAD-4.0.0 1.6046E-06
33921 109 H/Y None rs1410541718 0.2429 None gnomAD-2.1.1 4.09E-06
33921 109 H/Y None rs1410541718 0.2429 None gnomAD-4.0.0 2.05989E-06
33922 110 Q/H None rs55886356 0.0780 None gnomAD-2.1.1 7.06851E-03
33922 110 Q/H None rs55886356 0.0780 None gnomAD-3.1.2 7.54697E-03
33922 110 Q/H None rs55886356 0.0780 None 1000 genomes 4.59265E-03
33922 110 Q/H None rs55886356 0.0780 None gnomAD-4.0.0 1.00219E-02
33922 110 Q/R None None 0.0780 None gnomAD-4.0.0 6.86511E-07
33923 111 V/I None None 0.1396 None gnomAD-4.0.0 6.86481E-07
33924 112 C/Y None None 0.0853 None gnomAD-4.0.0 6.86374E-07
33925 113 E/G None None 0.2213 None gnomAD-4.0.0 6.86249E-07
33925 113 E/K None rs780205747 0.2213 None gnomAD-2.1.1 1.22E-05
33925 113 E/K None rs780205747 0.2213 None gnomAD-4.0.0 8.01333E-06
33928 116 Q/R None rs772264395 0.2090 None gnomAD-3.1.2 6.57E-06
33928 116 Q/R None rs772264395 0.2090 None gnomAD-4.0.0 1.41607E-05
33929 117 F/S None None 0.1297 None gnomAD-4.0.0 1.60075E-06
33930 118 L/S None None 0.1271 None gnomAD-4.0.0 2.40067E-06
33931 119 H/Y None rs746021065 0.1260 None gnomAD-2.1.1 4.07E-06
33931 119 H/Y None rs746021065 0.1260 None gnomAD-4.0.0 1.60008E-06
33933 121 H/N None None 0.3919 None gnomAD-4.0.0 1.59916E-06
33933 121 H/Q None rs757788117 0.3919 None gnomAD-2.1.1 4.06E-06
33933 121 H/Q None rs757788117 0.3919 None gnomAD-3.1.2 6.57E-06
33933 121 H/Q None rs757788117 0.3919 None gnomAD-4.0.0 6.56953E-06
33933 121 H/R None rs778857510 0.3919 None gnomAD-2.1.1 2.44E-05
33933 121 H/R None rs778857510 0.3919 None gnomAD-4.0.0 1.16545E-05
33934 122 N/S None None 0.2591 None gnomAD-4.0.0 1.59831E-06
33935 123 I/M None rs76106451 0.1209 None gnomAD-2.1.1 2.16E-05
33935 123 I/M None rs76106451 0.1209 None gnomAD-3.1.2 1.97E-05
33935 123 I/M None rs76106451 0.1209 None 1000 genomes 1.99681E-04
33935 123 I/M None rs76106451 0.1209 None gnomAD-4.0.0 1.24114E-05
33935 123 I/T None rs778304667 0.1209 None gnomAD-2.1.1 4.05E-06
33935 123 I/T None rs778304667 0.1209 None gnomAD-4.0.0 1.37078E-06
33935 123 I/V None rs56376197 0.1209 None gnomAD-2.1.1 5.00068E-03
33935 123 I/V None rs56376197 0.1209 None gnomAD-3.1.2 1.49078E-02
33935 123 I/V None rs56376197 0.1209 None 1000 genomes 1.23802E-02
33935 123 I/V None rs56376197 0.1209 None gnomAD-4.0.0 2.72457E-03
33936 124 G/A None rs753079587 0.1006 None gnomAD-2.1.1 1.08E-05
33936 124 G/A None rs753079587 0.1006 None gnomAD-4.0.0 2.39871E-05
33936 124 G/E None None 0.1006 None gnomAD-4.0.0 6.85346E-07
33937 125 H/N None rs1690708183 0.1072 None gnomAD-4.0.0 3.1943E-06
33939 127 D/E None None 0.1006 None gnomAD-4.0.0 1.59602E-06
33939 127 D/Y None None 0.1006 None gnomAD-4.0.0 1.59637E-06
33940 128 I/T None rs184789288 0.1433 None gnomAD-3.1.2 6.57E-06
33940 128 I/T None rs184789288 0.1433 None 1000 genomes 1.99681E-04
33940 128 I/T None rs184789288 0.1433 None gnomAD-4.0.0 6.56694E-06
33940 128 I/V None rs1354041065 0.1433 None gnomAD-2.1.1 4.05E-06
33940 128 I/V None rs1354041065 0.1433 None gnomAD-4.0.0 1.59572E-06
33941 129 R/T None rs762498249 0.0852 None gnomAD-2.1.1 1.08E-05
33941 129 R/T None rs762498249 0.0852 None gnomAD-3.1.2 2.63E-05
33941 129 R/T None rs762498249 0.0852 None gnomAD-4.0.0 7.70074E-06
33943 131 E/G None None 0.1295 None gnomAD-4.0.0 1.20032E-06
33944 132 N/S None rs2154136201 0.1422 None gnomAD-4.0.0 2.73857E-06
33944 132 N/Y None rs1690702377 0.1422 None gnomAD-4.0.0 4.78086E-06
33945 133 I/T None None 0.0892 None gnomAD-4.0.0 2.40064E-06
33945 133 I/V None rs1356126685 0.0892 None gnomAD-2.1.1 4.03E-06
33945 133 I/V None rs1356126685 0.0892 None gnomAD-4.0.0 6.37314E-06
33946 134 I/T None rs1559041085 0.0676 None gnomAD-4.0.0 1.20032E-06
33947 135 Y/C None rs557060548 0.0959 None gnomAD-2.1.1 4.03E-06
33947 135 Y/C None rs557060548 0.0959 None gnomAD-3.1.2 1.31E-05
33947 135 Y/C None rs557060548 0.0959 None 1000 genomes 1.99681E-04
33947 135 Y/C None rs557060548 0.0959 None gnomAD-4.0.0 2.47939E-06
33947 135 Y/S None rs557060548 0.0959 None gnomAD-4.0.0 1.36892E-06
33949 137 T/I None rs1559040993 0.2465 None gnomAD-2.1.1 3.18E-05
33949 137 T/I None rs1559040993 0.2465 None gnomAD-3.1.2 6.57E-06
33949 137 T/I None rs1559040993 0.2465 None gnomAD-4.0.0 6.57358E-06
33950 138 R/G None rs1013907314 0.4970 None gnomAD-3.1.2 6.57E-06
33950 138 R/G None rs1013907314 0.4970 None gnomAD-4.0.0 3.71867E-06
33951 139 R/S None rs761821275 0.6352 None gnomAD-2.1.1 2.01E-05
33951 139 R/S None rs761821275 0.6352 None gnomAD-4.0.0 6.36665E-06
33953 141 S/C None rs1575284524 0.3702 None gnomAD-4.0.0 9.54885E-06
33954 142 T/I None rs368172120 0.1801 None gnomAD-4.0.0 2.0527E-06
33954 142 T/N None rs368172120 0.1801 None gnomAD-2.1.1 4.02E-06
33956 144 K/E None None 0.1035 None gnomAD-4.0.0 6.84214E-07
33956 144 K/Q None rs1690684721 0.1035 None gnomAD-3.1.2 1.31E-05
33956 144 K/Q None rs1690684721 0.1035 None gnomAD-4.0.0 3.71808E-06
33957 145 I/L None None 0.1212 None gnomAD-4.0.0 1.59129E-06
33958 146 I/T None rs760516584 0.1230 None gnomAD-2.1.1 2.01E-05
33958 146 I/T None rs760516584 0.1230 None gnomAD-3.1.2 1.31E-05
33958 146 I/T None rs760516584 0.1230 None gnomAD-4.0.0 1.23937E-05
33959 147 E/K None rs886055224 0.1169 None gnomAD-2.1.1 4.02E-06
33959 147 E/K None rs886055224 0.1169 None gnomAD-3.1.2 2.63E-05
33959 147 E/K None rs886055224 0.1169 None gnomAD-4.0.0 1.42532E-05
33959 147 E/V None None 0.1169 None gnomAD-4.0.0 1.20032E-06
33960 148 F/L None rs1690680023 0.1404 None gnomAD-3.1.2 6.57E-06
33960 148 F/L None rs1690680023 0.1404 None gnomAD-4.0.0 6.57341E-06
33960 148 F/S None rs1690678952 0.1404 None gnomAD-3.1.2 6.57E-06
33960 148 F/S None rs1690678952 0.1404 None gnomAD-4.0.0 2.56202E-06
33961 149 G/A None None 0.1210 None gnomAD-4.0.0 6.84197E-07
33961 149 G/S None rs775256517 0.1210 None gnomAD-2.1.1 4.02E-06
33961 149 G/S None rs775256517 0.1210 None gnomAD-4.0.0 1.36841E-06
33961 149 G/V None rs1184245523 0.1210 None gnomAD-2.1.1 4.02E-06
33961 149 G/V None rs1184245523 0.1210 None gnomAD-4.0.0 6.84197E-07
33962 150 Q/R None None 0.1069 None gnomAD-4.0.0 1.59119E-06
33964 152 R/C None rs779064623 0.1790 None gnomAD-2.1.1 8.04E-06
33964 152 R/C None rs779064623 0.1790 None gnomAD-3.1.2 1.97E-05
33964 152 R/C None rs779064623 0.1790 None gnomAD-4.0.0 1.23943E-05
33964 152 R/G None rs779064623 0.1790 None gnomAD-2.1.1 4.02E-06
33964 152 R/G None rs779064623 0.1790 None gnomAD-3.1.2 6.57E-06
33964 152 R/G None rs779064623 0.1790 None gnomAD-4.0.0 6.57471E-06
33964 152 R/H None rs55669553 0.1790 None gnomAD-2.1.1 3.45492E-03
33964 152 R/H None rs55669553 0.1790 None gnomAD-3.1.2 1.77468E-03
33964 152 R/H None rs55669553 0.1790 None 1000 genomes 5.99042E-03
33964 152 R/H None rs55669553 0.1790 None gnomAD-4.0.0 2.20038E-03
33964 152 R/L None None 0.1790 None gnomAD-4.0.0 1.36841E-06
33964 152 R/S None None 0.1790 None gnomAD-2.1.1 5.71E-05
33964 152 R/S None None 0.1790 None gnomAD-3.1.2 3.29E-05
33964 152 R/S None None 0.1790 None gnomAD-4.0.0 8.42812E-05
33965 153 Q/H None None 0.3773 None gnomAD-4.0.0 1.59124E-06
33965 153 Q/R None None 0.3773 None gnomAD-4.0.0 1.20032E-06
33967 155 K/I None None 0.5481 None gnomAD-4.0.0 1.59121E-06
33969 157 G/E None None 0.2489 None gnomAD-4.0.0 1.20032E-06
33970 158 D/N None rs749832500 0.2688 None gnomAD-2.1.1 1.21E-05
33970 158 D/N None rs749832500 0.2688 None gnomAD-3.1.2 6.57E-06
33970 158 D/N None rs749832500 0.2688 None gnomAD-4.0.0 4.33801E-06
33971 159 N/D None None 0.5794 None gnomAD-4.0.0 1.59125E-06
33972 160 F/S None None 0.1308 None gnomAD-4.0.0 1.59127E-06
33976 164 F/L None None 0.0925 None gnomAD-4.0.0 1.59127E-06
33976 164 F/S None None 0.0925 None gnomAD-4.0.0 6.84211E-07
33976 164 F/Y None None 0.0925 None gnomAD-4.0.0 1.36842E-06
33977 165 T/A None rs1434947550 0.2959 None gnomAD-3.1.2 1.31E-05
33977 165 T/A None rs1434947550 0.2959 None gnomAD-4.0.0 3.04476E-06
33977 165 T/I None None 0.2959 None gnomAD-4.0.0 3.1826E-06
33978 166 A/T None rs756665400 0.0916 None gnomAD-2.1.1 4.02E-06
33978 166 A/T None rs756665400 0.0916 None gnomAD-4.0.0 1.36847E-06
33979 167 P/R None rs200238877 0.1504 None gnomAD-2.1.1 2.99908E-04
33979 167 P/R None rs200238877 0.1504 None gnomAD-3.1.2 8.67451E-04
33979 167 P/R None rs200238877 0.1504 None 1000 genomes 9.98403E-04
33979 167 P/R None rs200238877 0.1504 None gnomAD-4.0.0 1.67309E-04
33980 168 E/D None rs2154136129 0.0709 None gnomAD-3.1.2 6.57E-06
33980 168 E/D None rs2154136129 0.0709 None gnomAD-4.0.0 6.56538E-06
33980 168 E/G None rs1559040103 0.0709 None gnomAD-2.1.1 4.02E-06
33980 168 E/G None rs1559040103 0.0709 None gnomAD-4.0.0 1.59129E-06
33980 168 E/K None None 0.0709 None gnomAD-4.0.0 6.84228E-07
33980 168 E/Q None None 0.0709 None gnomAD-4.0.0 2.05268E-06
33981 169 Y/H None rs781686886 0.0746 None gnomAD-2.1.1 1.21E-05
33981 169 Y/H None rs781686886 0.0746 None gnomAD-3.1.2 3.29E-05
33981 169 Y/H None rs781686886 0.0746 None gnomAD-4.0.0 9.9151E-06
33982 170 Y/C None rs888342815 0.0880 None gnomAD-3.1.2 6.57E-06
33982 170 Y/C None rs888342815 0.0880 None gnomAD-4.0.0 6.57047E-06
33982 170 Y/D None rs1289613235 0.0880 None gnomAD-2.1.1 4.02E-06
33982 170 Y/D None rs1289613235 0.0880 None gnomAD-4.0.0 6.84224E-07
33982 170 Y/F None None 0.0880 None gnomAD-4.0.0 3.18277E-06
33982 170 Y/H None rs1289613235 0.0880 None gnomAD-2.1.1 4.02E-06
33982 170 Y/H None rs1289613235 0.0880 None gnomAD-4.0.0 1.36845E-06
33984 172 P/H None None 0.0953 None gnomAD-4.0.0 1.36852E-06
33984 172 P/L None rs1392647027 0.0953 None gnomAD-2.1.1 4.02E-06
33984 172 P/L None rs1392647027 0.0953 None gnomAD-4.0.0 1.36852E-06
33984 172 P/R None None 0.0953 None gnomAD-4.0.0 6.84258E-07
33984 172 P/S None None 0.0953 None gnomAD-4.0.0 3.18299E-06
33985 173 E/Q None rs534613934 0.0640 None gnomAD-2.1.1 4.64E-05
33985 173 E/Q None rs534613934 0.0640 None gnomAD-3.1.2 5.91E-05
33985 173 E/Q None rs534613934 0.0640 None 1000 genomes 3.99361E-04
33985 173 E/Q None rs534613934 0.0640 None gnomAD-4.0.0 4.48352E-05
33986 174 V/D None None 0.0921 None gnomAD-4.0.0 3.60097E-06
33986 174 V/I None None 0.0921 None gnomAD-4.0.0 1.59164E-06
33987 175 H/N None rs1690646810 0.1326 None gnomAD-4.0.0 1.59176E-06
33987 175 H/R None None 0.1326 None gnomAD-4.0.0 1.59172E-06
33987 175 H/Y None rs1690646810 0.1326 None gnomAD-3.1.2 6.57E-06
33987 175 H/Y None rs1690646810 0.1326 None gnomAD-4.0.0 6.57117E-06
33988 176 Q/H None rs1690644273 0.4602 None gnomAD-3.1.2 6.57E-06
33988 176 Q/H None rs1690644273 0.4602 None gnomAD-4.0.0 6.56961E-06
33989 177 H/Y None rs1462346829 0.3028 None gnomAD-2.1.1 8.04E-06
33989 177 H/Y None rs1462346829 0.3028 None gnomAD-4.0.0 4.77509E-06
33991 179 V/F None rs1423532628 0.1803 None gnomAD-2.1.1 8.04E-06
33991 179 V/F None rs1423532628 0.1803 None gnomAD-4.0.0 4.77544E-06
33992 180 V/D None None 0.1005 None gnomAD-4.0.0 1.20032E-06
33992 180 V/I None None 0.1005 None gnomAD-4.0.0 1.20032E-06
33993 181 S/N None None 0.1744 None gnomAD-4.0.0 1.59193E-06
33994 182 T/K None rs1419643205 0.1461 None gnomAD-2.1.1 4.02E-06
33994 182 T/K None rs1419643205 0.1461 None gnomAD-3.1.2 6.57E-06
33994 182 T/K None rs1419643205 0.1461 None gnomAD-4.0.0 8.96875E-06
33996 184 T/I None None 0.0999 None gnomAD-4.0.0 1.59158E-06
33997 185 D/N None None 0.1035 None gnomAD-4.0.0 1.59169E-06
33998 186 M/T None rs1559039438 0.0645 None gnomAD-4.0.0 1.59151E-06
33998 186 M/V None None 0.0645 None gnomAD-4.0.0 1.59161E-06
33999 187 W/C None rs764821435 0.0724 None gnomAD-2.1.1 1.21E-05
33999 187 W/C None rs764821435 0.0724 None gnomAD-4.0.0 4.77458E-06
33999 187 W/R None None 0.0724 None gnomAD-4.0.0 1.20032E-06
33999 187 W/S None None 0.0724 None gnomAD-4.0.0 6.84273E-07
34000 188 S/T None rs1452192430 0.0718 None gnomAD-2.1.1 4.02E-06
34000 188 S/T None rs1452192430 0.0718 None gnomAD-4.0.0 1.59151E-06
34001 189 L/F None rs1225450640 0.1411 None gnomAD-3.1.2 6.57E-06
34001 189 L/F None rs1225450640 0.1411 None gnomAD-4.0.0 2.02983E-06
34003 191 T/P None None 0.0730 None gnomAD-4.0.0 1.36845E-06
34004 192 L/P None None 0.0889 None gnomAD-4.0.0 1.36845E-06
34004 192 L/Q None rs727504897 0.0889 None gnomAD-2.1.1 8.04E-06
34004 192 L/Q None rs727504897 0.0889 None gnomAD-4.0.0 1.36845E-05
34004 192 L/V None None 0.0889 None gnomAD-4.0.0 1.20032E-06
34006 194 Y/H None None 0.0628 None gnomAD-4.0.0 1.59124E-06
34007 195 V/A None rs370702360 0.0550 None gnomAD-2.1.1 4.02E-06
34007 195 V/A None rs370702360 0.0550 None gnomAD-3.1.2 6.57E-06
34007 195 V/A None rs370702360 0.0550 None gnomAD-4.0.0 6.57056E-06
34009 197 L/F None rs760604476 0.1202 None gnomAD-2.1.1 8.04E-06
34009 197 L/F None rs760604476 0.1202 None gnomAD-3.1.2 6.57E-06
34009 197 L/F None rs760604476 0.1202 None gnomAD-4.0.0 2.72657E-05
34010 198 S/N None None 0.0803 None gnomAD-4.0.0 2.73676E-06
34010 198 S/R None rs727503534 0.0803 None gnomAD-2.1.1 2.41E-05
34010 198 S/R None rs727503534 0.0803 None gnomAD-3.1.2 6.57E-06
34010 198 S/R None rs727503534 0.0803 None gnomAD-4.0.0 1.859E-06
34011 199 G/S None None 0.0861 None gnomAD-4.0.0 1.20032E-06
34012 200 I/S None None 0.1425 None gnomAD-4.0.0 4.10515E-06
34012 200 I/T None None 0.1425 None gnomAD-4.0.0 1.36838E-06
34014 202 P/L None rs1369028729 0.0843 None gnomAD-2.1.1 4.02E-06
34014 202 P/L None rs1369028729 0.0843 None gnomAD-4.0.0 1.59121E-06
34014 202 P/S None rs775271604 0.0843 None gnomAD-2.1.1 8.04E-06
34014 202 P/S None rs775271604 0.0843 None gnomAD-4.0.0 1.36839E-06
34014 202 P/T None rs775271604 0.0843 None gnomAD-2.1.1 8.04E-06
34014 202 P/T None rs775271604 0.0843 None gnomAD-3.1.2 1.31E-05
34014 202 P/T None rs775271604 0.0843 None gnomAD-4.0.0 1.48724E-05
34015 203 F/L None None 0.0761 None gnomAD-4.0.0 1.20032E-06
34018 206 E/A None None 0.7884 None gnomAD-4.0.0 1.20032E-06
34018 206 E/D None None 0.7884 None gnomAD-4.0.0 1.59121E-06
34019 207 T/I None None 0.3625 None gnomAD-4.0.0 1.20032E-06
34020 208 N/I None None 0.4453 None gnomAD-4.0.0 1.59122E-06
34021 209 Q/R None None 0.5569 None gnomAD-4.0.0 2.40064E-06
34022 210 Q/R None None 0.3973 None gnomAD-4.0.0 2.73679E-06
34023 211 I/N None rs1254337927 0.1060 None gnomAD-2.1.1 3.18E-05
34023 211 I/N None rs1254337927 0.1060 None gnomAD-3.1.2 6.57E-06
34023 211 I/N None rs1254337927 0.1060 None gnomAD-4.0.0 2.02987E-06
34024 212 I/F None None 0.1128 None gnomAD-4.0.0 1.20037E-06
34024 212 I/M None rs1296908123 0.1128 None gnomAD-2.1.1 4.02E-06
34024 212 I/M None rs1296908123 0.1128 None gnomAD-4.0.0 6.84203E-07
34024 212 I/T None rs779963495 0.1128 None gnomAD-2.1.1 4.02E-06
34024 212 I/T None rs779963495 0.1128 None gnomAD-4.0.0 4.10523E-06
34025 213 E/G None None 0.4637 None gnomAD-4.0.0 1.20032E-06
34025 213 E/K None None 0.4637 None gnomAD-4.0.0 1.36844E-06
34025 213 E/Q None None 0.4637 None gnomAD-4.0.0 2.05267E-06
34026 214 N/S None rs759826620 0.1798 None gnomAD-2.1.1 4.02E-06
34026 214 N/S None rs759826620 0.1798 None gnomAD-4.0.0 1.3684E-06
34027 215 I/V None rs1690594509 0.0414 None gnomAD-3.1.2 6.57E-06
34027 215 I/V None rs1690594509 0.0414 None gnomAD-4.0.0 6.56935E-06
34028 216 M/L None None 0.1975 None gnomAD-4.0.0 1.20045E-06
34030 218 A/P None None 0.1076 None gnomAD-4.0.0 1.59126E-06
34032 220 Y/C None rs1160872040 0.1347 None gnomAD-3.1.2 6.57E-06
34032 220 Y/C None rs1160872040 0.1347 None gnomAD-4.0.0 6.56927E-06
34032 220 Y/H None None 0.1347 None gnomAD-4.0.0 1.59129E-06
34033 221 T/S None None 0.4670 None gnomAD-4.0.0 1.59132E-06
34035 223 D/E None rs370647845 0.2044 None gnomAD-2.1.1 1.43E-05
34035 223 D/E None rs370647845 0.2044 None gnomAD-3.1.2 1.97E-05
34035 223 D/E None rs370647845 0.2044 None gnomAD-4.0.0 1.61122E-05
34035 223 D/N None rs144963736 0.2044 None gnomAD-2.1.1 9.46118E-04
34035 223 D/N None rs144963736 0.2044 None gnomAD-3.1.2 2.52333E-03
34035 223 D/N None rs144963736 0.2044 None 1000 genomes 2.99521E-03
34035 223 D/N None rs144963736 0.2044 None gnomAD-4.0.0 4.97589E-04
34035 223 D/Y None rs144963736 0.2044 None gnomAD-2.1.1 3.18E-05
34035 223 D/Y None rs144963736 0.2044 None gnomAD-3.1.2 6.57E-06
34035 223 D/Y None rs144963736 0.2044 None gnomAD-4.0.0 6.57108E-06
34036 224 E/K None None 0.7231 None gnomAD-4.0.0 2.7369E-06
34037 225 E/A None None 0.6493 None gnomAD-4.0.0 1.20032E-06
34038 226 A/P None None 0.1051 None gnomAD-4.0.0 6.84246E-07
34038 226 A/T None rs1690579265 0.1051 None gnomAD-4.0.0 6.84246E-07
34039 227 F/L None rs1178807411 0.0775 None gnomAD-2.1.1 4.02E-06
34039 227 F/L None rs1178807411 0.0775 None gnomAD-4.0.0 1.59145E-06
34039 227 F/S None rs1553496582 0.0775 None gnomAD-3.1.2 6.57E-06
34039 227 F/S None rs1553496582 0.0775 None gnomAD-4.0.0 1.36337E-05
34041 229 E/G None rs1255397275 0.3863 None gnomAD-2.1.1 4.02E-06
34041 229 E/G None rs1255397275 0.3863 None gnomAD-4.0.0 4.10553E-06
34041 229 E/K None rs377600383 0.3863 None gnomAD-2.1.1 1.178E-04
34041 229 E/K None rs377600383 0.3863 None gnomAD-3.1.2 1.37951E-04
34041 229 E/K None rs377600383 0.3863 None gnomAD-4.0.0 7.49853E-05
34042 230 I/L None rs745822255 0.1170 None gnomAD-2.1.1 1.21E-05
34042 230 I/L None rs745822255 0.1170 None gnomAD-4.0.0 7.52681E-06
34042 230 I/T None rs373173599 0.1170 None gnomAD-2.1.1 7.14E-06
34042 230 I/T None rs373173599 0.1170 None gnomAD-3.1.2 2.63E-05
34042 230 I/T None rs373173599 0.1170 None gnomAD-4.0.0 8.05622E-06
34043 231 S/G None None 0.1443 None gnomAD-4.0.0 4.10558E-06
34044 232 I/L None rs1690568887 0.7420 None gnomAD-4.0.0 6.8427E-06
34044 232 I/S None None 0.7420 None gnomAD-4.0.0 6.84277E-07
34044 232 I/T None rs1349271119 0.7420 None gnomAD-4.0.0 1.36855E-06
34044 232 I/V None rs1690568887 0.7420 None gnomAD-3.1.2 6.57E-06
34044 232 I/V None rs1690568887 0.7420 None gnomAD-4.0.0 4.33795E-06
34045 233 E/D None None 0.2371 None gnomAD-4.0.0 1.59171E-06
34046 234 A/S None None 0.0518 None gnomAD-4.0.0 1.59178E-06
34046 234 A/V None None 0.0518 None gnomAD-4.0.0 1.20032E-06
34047 235 M/I None None 0.1029 None gnomAD-4.0.0 1.5919E-06
34047 235 M/R None rs745563787 0.1029 None gnomAD-2.1.1 4.02E-06
34047 235 M/R None rs745563787 0.1029 None gnomAD-4.0.0 1.59183E-06
34047 235 M/T None rs745563787 0.1029 None gnomAD-2.1.1 4.02E-06
34047 235 M/T None rs745563787 0.1029 None gnomAD-4.0.0 1.59183E-06
34047 235 M/V None rs755244797 0.1029 None gnomAD-2.1.1 8.04E-06
34047 235 M/V None rs755244797 0.1029 None gnomAD-4.0.0 9.55079E-06
34048 236 D/G None None 0.2898 None gnomAD-4.0.0 6.84318E-07
34048 236 D/N None rs778467259 0.2898 None gnomAD-2.1.1 8.04E-06
34048 236 D/N None rs778467259 0.2898 None gnomAD-4.0.0 3.18391E-06
34048 236 D/Y None rs778467259 0.2898 None gnomAD-2.1.1 3.18E-05
34048 236 D/Y None rs778467259 0.2898 None gnomAD-3.1.2 6.57E-06
34048 236 D/Y None rs778467259 0.2898 None gnomAD-4.0.0 6.56918E-06
34050 238 V/I None rs1575280335 0.0765 None gnomAD-4.0.0 7.52809E-06
34051 239 D/E None None 0.3324 None gnomAD-4.0.0 6.84435E-07
34051 239 D/Y None None 0.3324 None gnomAD-4.0.0 1.59237E-06
34052 240 R/G None rs756924372 0.3466 None gnomAD-2.1.1 4.02E-06
34052 240 R/G None rs756924372 0.3466 None gnomAD-4.0.0 1.36891E-06
34052 240 R/Q None rs369245991 0.3466 None gnomAD-2.1.1 3.62E-05
34052 240 R/Q None rs369245991 0.3466 None gnomAD-3.1.2 1.97E-05
34052 240 R/Q None rs369245991 0.3466 None gnomAD-4.0.0 3.90516E-05
34052 240 R/W None rs756924372 0.3466 None gnomAD-4.0.0 4.10673E-06
34055 243 V/A None rs752582515 0.1305 None gnomAD-2.1.1 1.40936E-04
34055 243 V/A None rs752582515 0.1305 None gnomAD-3.1.2 6.57E-06
34055 243 V/A None rs752582515 0.1305 None gnomAD-4.0.0 2.78988E-05
34055 243 V/L None None 0.1305 None gnomAD-4.0.0 1.5929E-06
34057 245 E/A None rs1418716706 0.3153 None gnomAD-2.1.1 4.03E-06
34057 245 E/A None rs1418716706 0.3153 None gnomAD-4.0.0 1.59332E-06
34057 245 E/D None rs767376871 0.3153 None gnomAD-2.1.1 4.03E-06
34057 245 E/D None rs767376871 0.3153 None gnomAD-3.1.2 6.57E-06
34057 245 E/D None rs767376871 0.3153 None gnomAD-4.0.0 6.57004E-06
34057 245 E/K None rs1173824558 0.3153 None gnomAD-2.1.1 4.03E-06
34057 245 E/K None rs1173824558 0.3153 None gnomAD-4.0.0 1.59339E-06
34058 246 R/K None rs886039007 0.1646 None gnomAD-2.1.1 3.18E-05
34058 246 R/K None rs886039007 0.1646 None gnomAD-3.1.2 4.6E-05
34058 246 R/K None rs886039007 0.1646 None gnomAD-4.0.0 8.06061E-06
34059 247 K/R None rs1690541706 0.8834 None gnomAD-4.0.0 6.84671E-07
34060 248 S/P None rs373945220 0.3919 None gnomAD-2.1.1 4.03E-06
34060 248 S/P None rs373945220 0.3919 None gnomAD-3.1.2 6.57E-06
34061 249 R/C None rs879220772 0.0685 None gnomAD-3.1.2 2.63E-05
34061 249 R/C None rs879220772 0.0685 None gnomAD-4.0.0 8.98247E-06
34061 249 R/H None rs774174825 0.0685 None gnomAD-2.1.1 8.07E-06
34061 249 R/H None rs774174825 0.0685 None gnomAD-4.0.0 1.02726E-05
34061 249 R/L None None 0.0685 None gnomAD-4.0.0 6.84839E-07
34062 250 M/K None None 0.0912 None gnomAD-4.0.0 6.84852E-07
34062 250 M/L None None 0.0912 None gnomAD-4.0.0 1.59473E-06
34062 250 M/R None rs1690534459 0.0912 None gnomAD-4.0.0 4.10911E-06
34062 250 M/T None rs1690534459 0.0912 None gnomAD-4.0.0 6.84852E-07
34063 251 T/I None None 0.1942 None gnomAD-4.0.0 1.59526E-06
34064 252 A/T None rs200237973 0.0882 None gnomAD-2.1.1 1.72057E-04
34064 252 A/T None rs200237973 0.0882 None gnomAD-3.1.2 2.69343E-04
34064 252 A/T None rs200237973 0.0882 None gnomAD-4.0.0 3.65373E-04
34064 252 A/V None rs149921607 0.0882 None gnomAD-2.1.1 6.37E-05
34064 252 A/V None rs149921607 0.0882 None gnomAD-3.1.2 4.6E-05
34064 252 A/V None rs149921607 0.0882 None 1000 genomes 1.99681E-04
34064 252 A/V None rs149921607 0.0882 None gnomAD-4.0.0 6.82341E-06
34065 253 S/L None rs769936820 0.1991 None gnomAD-2.1.1 4.04E-06
34065 253 S/L None rs769936820 0.1991 None gnomAD-3.1.2 6.57E-06
34065 253 S/L None rs769936820 0.1991 None gnomAD-4.0.0 7.70537E-06
34065 253 S/P None rs1690528772 0.1991 None gnomAD-4.0.0 1.37007E-06
34066 254 E/A None None 0.2253 None gnomAD-4.0.0 1.20032E-06
34067 255 A/D None None 0.0749 None gnomAD-4.0.0 2.74112E-06
34067 255 A/G None rs769172246 0.0749 None gnomAD-4.0.0 6.85278E-07
34067 255 A/P None rs776959962 0.0749 None gnomAD-4.0.0 1.59688E-06
34067 255 A/T None rs776959962 0.0749 None gnomAD-2.1.1 4.05E-06
34067 255 A/T None rs776959962 0.0749 None gnomAD-4.0.0 1.59688E-06
34068 256 L/R None rs747379775 0.1292 None gnomAD-2.1.1 4.05E-06
34068 256 L/R None rs747379775 0.1292 None gnomAD-4.0.0 1.59707E-06
34069 257 Q/R None rs780466011 0.3505 None gnomAD-2.1.1 8.1E-06
34069 257 Q/R None rs780466011 0.3505 None gnomAD-4.0.0 2.05596E-06
34070 258 H/Q None None 0.1050 None gnomAD-4.0.0 6.8546E-07
34072 260 W/R None rs375159973 0.1071 None gnomAD-2.1.1 8.11E-06
34072 260 W/R None rs375159973 0.1071 None gnomAD-3.1.2 1.97E-05
34072 260 W/R None rs375159973 0.1071 CM
MmD-HD
Literature None
34072 260 W/R None rs375159973 0.1071 None gnomAD-4.0.0 2.17264E-05
34074 262 K/N None rs748885900 0.3613 None gnomAD-2.1.1 4.06E-06
34074 262 K/N None rs748885900 0.3613 None gnomAD-3.1.2 6.57E-06
34074 262 K/N None rs748885900 0.3613 None gnomAD-4.0.0 2.57237E-06
34074 262 K/R None None 0.3613 None gnomAD-4.0.0 6.8564E-07
34075 263 Q/E None rs777288641 0.1700 None gnomAD-2.1.1 4.07E-06
34077 265 I/M None None 0.2174 None gnomAD-4.0.0 6.85709E-07
34077 265 I/T None rs1290306844 0.2174 None gnomAD-2.1.1 4.07E-06
34077 265 I/T None rs1290306844 0.2174 None gnomAD-4.0.0 2.05707E-06
34078 266 E/D None rs1043486033 0.5115 None gnomAD-2.1.1 4.07E-06
34078 266 E/D None rs1043486033 0.5115 None gnomAD-4.0.0 1.37137E-06
34078 266 E/K None rs1454101167 0.5115 None gnomAD-2.1.1 4.07E-06
34078 266 E/K None rs1454101167 0.5115 None gnomAD-4.0.0 1.59958E-06
34078 266 E/Q None rs1454101167 0.5115 None gnomAD-3.1.2 6.57E-06
34078 266 E/Q None rs1454101167 0.5115 None gnomAD-4.0.0 6.57039E-06
34079 267 R/K None rs755581166 0.6379 None gnomAD-2.1.1 8.13E-06
34079 267 R/K None rs755581166 0.6379 None gnomAD-4.0.0 2.05707E-06
34080 268 V/D None None 0.1156 None gnomAD-4.0.0 2.40065E-06
34080 268 V/L None rs1467698015 0.1156 None gnomAD-2.1.1 1.44E-05
34080 268 V/L None rs1467698015 0.1156 None gnomAD-3.1.2 1.97E-05
34080 268 V/L None rs1467698015 0.1156 None gnomAD-4.0.0 7.71686E-06
34081 269 S/G None rs752173730 0.2559 None gnomAD-2.1.1 8.13E-06
34081 269 S/G None rs752173730 0.2559 None gnomAD-4.0.0 1.59871E-06
34081 269 S/N None None 0.2559 None gnomAD-4.0.0 6.85606E-07
34082 270 T/I None None 0.5591 None gnomAD-4.0.0 1.37101E-06
34082 270 T/N None rs1375940766 0.5591 None gnomAD-2.1.1 3.19E-05
34082 270 T/N None rs1375940766 0.5591 None gnomAD-3.1.2 6.57E-06
34082 270 T/N None rs1375940766 0.5591 None gnomAD-4.0.0 2.48303E-06
34083 271 K/R None None 0.4839 None gnomAD-4.0.0 1.20032E-06
34084 272 V/A None None 0.4179 None gnomAD-4.0.0 1.59754E-06
34084 272 V/I None rs767405843 0.4179 None gnomAD-2.1.1 4.06E-06
34084 272 V/I None rs767405843 0.4179 None gnomAD-4.0.0 3.195E-06
34085 273 I/M None rs1188731609 0.1161 None gnomAD-2.1.1 4.06E-06
34085 273 I/M None rs1188731609 0.1161 None gnomAD-4.0.0 6.85299E-07
34085 273 I/T None None 0.1161 None gnomAD-4.0.0 1.20032E-06
34086 274 R/I None None 0.7229 None gnomAD-4.0.0 6.85191E-07
34086 274 R/K None None 0.7229 None gnomAD-4.0.0 6.85191E-07
34086 274 R/T None rs569650065 0.7229 None gnomAD-2.1.1 1.22E-05
34086 274 R/T None rs569650065 0.7229 None gnomAD-3.1.2 3.29E-05
34086 274 R/T None rs569650065 0.7229 None 1000 genomes 1.99681E-04
34086 274 R/T None rs569650065 0.7229 None gnomAD-4.0.0 4.96362E-06
34087 275 T/A None None 0.2202 None gnomAD-4.0.0 1.59652E-06
34087 275 T/I None None 0.2202 None gnomAD-4.0.0 6.85123E-07
34087 275 T/K None None 0.2202 None gnomAD-4.0.0 6.85123E-07
34090 278 H/Q None None 0.0965 None gnomAD-4.0.0 1.20032E-06
34090 278 H/Y None None 0.0965 None gnomAD-4.0.0 6.84947E-07
34091 279 R/Q None rs763708375 0.3625 None gnomAD-2.1.1 3.23E-05
34091 279 R/Q None rs763708375 0.3625 None gnomAD-3.1.2 3.94E-05
34091 279 R/Q None rs763708375 0.3625 None gnomAD-4.0.0 7.07026E-05
34091 279 R/W None rs140319117 0.3625 None gnomAD-2.1.1 1.01552E-03
34091 279 R/W None rs140319117 0.3625 None gnomAD-3.1.2 9.7976E-04
34091 279 R/W None rs140319117 0.3625 None 1000 genomes 7.98722E-04
34091 279 R/W None rs140319117 0.3625 HMERF
Literature None
34091 279 R/W None rs140319117 0.3625 None gnomAD-4.0.0 1.37625E-03
34092 280 R/C None rs765435004 0.4020 None gnomAD-2.1.1 2.02E-05
34092 280 R/C None rs765435004 0.4020 None gnomAD-3.1.2 6.57E-06
34092 280 R/C None rs765435004 0.4020 None gnomAD-4.0.0 6.82188E-06
34092 280 R/H None rs757918924 0.4020 None gnomAD-2.1.1 5.66E-05
34092 280 R/H None rs757918924 0.4020 None gnomAD-3.1.2 3.94E-05
34092 280 R/H None rs757918924 0.4020 None gnomAD-4.0.0 9.36361E-05
34094 282 Y/H None None 0.0917 None gnomAD-4.0.0 1.59316E-06
34094 282 Y/S None rs1414440071 0.0917 None gnomAD-2.1.1 3.19E-05
34094 282 Y/S None rs1414440071 0.0917 None gnomAD-3.1.2 6.57E-06
34094 282 Y/S None rs1414440071 0.0917 None gnomAD-4.0.0 1.30194E-05
34095 283 H/P None rs1437743604 0.6317 None gnomAD-3.1.2 1.97E-05
34095 283 H/P None rs1437743604 0.6317 None gnomAD-4.0.0 5.12826E-06
34096 284 T/I None rs375002174 0.5371 None gnomAD-2.1.1 8.07E-06
34096 284 T/I None rs375002174 0.5371 None gnomAD-3.1.2 6.57E-06
34096 284 T/I None rs375002174 0.5371 None gnomAD-4.0.0 6.19917E-06
34096 284 T/N None rs375002174 0.5371 None gnomAD-2.1.1 5.24E-05
34096 284 T/N None rs375002174 0.5371 None gnomAD-3.1.2 5.26E-05
34096 284 T/N None rs375002174 0.5371 None gnomAD-4.0.0 3.84349E-05
34097 285 L/M None rs775734528 0.1089 None gnomAD-2.1.1 4.03E-06
34097 285 L/M None rs775734528 0.1089 None gnomAD-4.0.0 1.59257E-06
34097 285 L/P None rs1324222809 0.1089 None gnomAD-2.1.1 8.06E-06
34097 285 L/P None rs1324222809 0.1089 None gnomAD-4.0.0 3.42212E-06
34097 285 L/Q None None 0.1089 None gnomAD-4.0.0 6.84423E-07
34097 285 L/R None None 0.1089 None gnomAD-4.0.0 1.36885E-06
34098 286 I/F None None 0.1460 None gnomAD-4.0.0 1.59223E-06
34098 286 I/T None rs1480810435 0.1460 None gnomAD-3.1.2 6.57E-06
34098 286 I/T None rs1480810435 0.1460 None gnomAD-4.0.0 6.57289E-06
34099 287 K/N None rs772381654 0.3855 None gnomAD-2.1.1 4.03E-06
34099 287 K/N None rs772381654 0.3855 None gnomAD-4.0.0 1.592E-06
34099 287 K/R None None 0.3855 None gnomAD-4.0.0 1.3687E-06
34101 289 D/N None None 0.7991 None gnomAD-4.0.0 1.5918E-06
34102 290 L/R None rs748971754 0.4811 None gnomAD-2.1.1 2.82E-05
34102 290 L/R None rs748971754 0.4811 None gnomAD-3.1.2 6.57E-06
34102 290 L/R None rs748971754 0.4811 None gnomAD-4.0.0 6.40649E-06
34103 291 N/D None None 0.7989 None gnomAD-4.0.0 6.84271E-07
34103 291 N/H None None 0.7989 None gnomAD-4.0.0 1.36854E-06
34103 291 N/I None rs557630306 0.7989 None gnomAD-2.1.1 2.86E-05
34103 291 N/I None rs557630306 0.7989 None gnomAD-3.1.2 2.63E-05
34103 291 N/I None rs557630306 0.7989 None 1000 genomes 1.99681E-04
34103 291 N/I None rs557630306 0.7989 None gnomAD-4.0.0 5.57726E-06
34103 291 N/S None rs557630306 0.7989 None gnomAD-2.1.1 4.02E-06
34103 291 N/S None rs557630306 0.7989 None gnomAD-3.1.2 6.57E-06
34103 291 N/S None rs557630306 0.7989 None gnomAD-4.0.0 1.23939E-06
34104 292 M/I None None 0.1459 None gnomAD-4.0.0 2.73697E-06
34104 292 M/R None rs769416699 0.1459 None gnomAD-2.1.1 4.02E-06
34104 292 M/R None rs769416699 0.1459 None gnomAD-4.0.0 6.84235E-07
34104 292 M/T None rs769416699 0.1459 None gnomAD-4.0.0 6.84235E-07
34104 292 M/V None rs1559035751 0.1459 None gnomAD-2.1.1 4.02E-06
34104 292 M/V None rs1559035751 0.1459 None gnomAD-4.0.0 2.05274E-06
34105 293 V/D None rs747672013 0.3600 None gnomAD-2.1.1 4.02E-06
34105 293 V/D None rs747672013 0.3600 None gnomAD-4.0.0 1.59135E-06
34106 294 V/M None rs780748204 0.1604 None gnomAD-2.1.1 4.02E-06
34108 296 A/P None None 0.1154 None gnomAD-4.0.0 1.36845E-06
34108 296 A/T None None 0.1154 None gnomAD-4.0.0 1.36845E-06
34108 296 A/V None None 0.1154 None gnomAD-4.0.0 6.84224E-07
34109 297 A/T None rs786205293 0.0616 None gnomAD-2.1.1 8.04E-06
34109 297 A/T None rs786205293 0.0616 None gnomAD-4.0.0 4.10524E-06
34109 297 A/V None rs1475114423 0.0616 None gnomAD-2.1.1 4.02E-06
34109 297 A/V None rs1475114423 0.0616 None gnomAD-4.0.0 3.18251E-06
34110 298 R/Q None rs565347600 0.1343 None gnomAD-2.1.1 3.22E-05
34110 298 R/Q None rs565347600 0.1343 None gnomAD-3.1.2 1.97E-05
34110 298 R/Q None rs565347600 0.1343 None 1000 genomes 1.99681E-04
34110 298 R/Q None rs565347600 0.1343 None gnomAD-4.0.0 1.61106E-05
34110 298 R/W None rs754873937 0.1343 None gnomAD-2.1.1 4.29E-05
34110 298 R/W None rs754873937 0.1343 None gnomAD-3.1.2 5.26E-05
34110 298 R/W None rs754873937 0.1343 None gnomAD-4.0.0 1.48729E-05
34112 300 S/A None rs889518198 0.0704 None gnomAD-3.1.2 6.57E-06
34112 300 S/A None rs889518198 0.0704 None gnomAD-4.0.0 1.23931E-06
34112 300 S/F None rs1252666695 0.0704 None gnomAD-2.1.1 4.02E-06
34112 300 S/F None rs1252666695 0.0704 None gnomAD-4.0.0 1.59114E-06
34112 300 S/P None None 0.0704 None gnomAD-4.0.0 6.84182E-07
34113 301 C/W None rs794729561 0.2576 None gnomAD-4.0.0 1.59107E-06
34113 301 C/Y None None 0.2576 None gnomAD-4.0.0 1.20032E-06
34115 303 G/R None None 0.1248 None gnomAD-4.0.0 1.59105E-06
34116 304 A/T None None 0.1353 None gnomAD-4.0.0 1.36834E-06
34116 304 A/V None rs1690458726 0.1353 None gnomAD-3.1.2 6.57E-06
34116 304 A/V None rs1690458726 0.1353 None gnomAD-4.0.0 6.57168E-06
34117 305 I/V None None 0.1466 None gnomAD-4.0.0 1.59103E-06
34118 306 R/Q None rs551905996 0.1242 None gnomAD-2.1.1 4.64E-05
34118 306 R/Q None rs551905996 0.1242 None gnomAD-3.1.2 9.86E-05
34118 306 R/Q None rs551905996 0.1242 None 1000 genomes 1.99681E-04
34118 306 R/Q None rs551905996 0.1242 None gnomAD-4.0.0 3.77956E-05
34119 307 S/F None None 0.2208 None gnomAD-4.0.0 3.60097E-06
34119 307 S/P None rs1690455117 0.2208 None gnomAD-4.0.0 1.59101E-06
34120 308 Q/P None None 0.5736 None gnomAD-4.0.0 1.20046E-06
34122 310 G/A None None 0.4098 None gnomAD-4.0.0 1.59098E-06
34122 310 G/R None rs1195753595 0.4098 None gnomAD-2.1.1 4.02E-06
34122 310 G/R None rs1195753595 0.4098 None gnomAD-4.0.0 1.591E-06
34123 311 V/A None rs1060500587 0.2148 None gnomAD-2.1.1 4.02E-06
34123 311 V/A None rs1060500587 0.2148 None gnomAD-4.0.0 1.59097E-06
34123 311 V/G None rs1060500587 0.2148 None gnomAD-3.1.2 1.32E-05
34123 311 V/G None rs1060500587 0.2148 None gnomAD-4.0.0 3.84472E-06
34123 311 V/M None rs1690450339 0.2148 None gnomAD-3.1.2 6.57E-06
34123 311 V/M None rs1690450339 0.2148 None gnomAD-4.0.0 2.02973E-06
34124 312 S/N None rs1271436308 0.2175 None gnomAD-2.1.1 7.13E-06
34124 312 S/N None rs1271436308 0.2175 None gnomAD-3.1.2 6.57E-06
34124 312 S/N None rs1271436308 0.2175 None gnomAD-4.0.0 6.19627E-06
34125 313 V/A None rs762110611 0.3626 None gnomAD-2.1.1 4.02E-06
34125 313 V/A None rs762110611 0.3626 None gnomAD-3.1.2 6.57E-06
34125 313 V/A None rs762110611 0.3626 None gnomAD-4.0.0 6.40403E-06
34125 313 V/I None rs765603620 0.3626 None gnomAD-2.1.1 1.2E-05
34125 313 V/I None rs765603620 0.3626 None gnomAD-4.0.0 2.73662E-06
34125 313 V/L None rs765603620 0.3626 None gnomAD-2.1.1 4.02E-06
34125 313 V/L None rs765603620 0.3626 None gnomAD-4.0.0 4.10493E-06
34126 314 A/V None rs1280930563 0.0956 None gnomAD-3.1.2 6.57E-06
34126 314 A/V None rs1280930563 0.0956 None gnomAD-4.0.0 6.4049E-06
34127 315 K/E None rs1327804969 0.5424 None gnomAD-3.1.2 1.31E-05
34127 315 K/E None rs1327804969 0.5424 None gnomAD-4.0.0 3.04471E-06
34128 316 V/G None None 0.0741 None gnomAD-4.0.0 2.05247E-06
34128 316 V/L None rs753871187 0.0741 None gnomAD-2.1.1 1.61E-05
34128 316 V/L None rs753871187 0.0741 None gnomAD-4.0.0 1.43188E-05
34130 318 V/G None None 0.0912 None gnomAD-4.0.0 1.591E-06
34131 319 A/T None None 0.3866 None gnomAD-4.0.0 2.40064E-06
34132 320 S/F None None 0.4819 None gnomAD-4.0.0 1.20032E-06
34132 320 S/P None rs876658098 0.4819 None gnomAD-2.1.1 3.18E-05
34132 320 S/P None rs876658098 0.4819 None gnomAD-3.1.2 6.57E-06
34132 320 S/P None rs876658098 0.4819 None gnomAD-4.0.0 6.57082E-06
34132 320 S/T None rs876658098 0.4819 None gnomAD-2.1.1 4.01E-06
34132 320 S/T None rs876658098 0.4819 None gnomAD-4.0.0 2.05246E-06
34133 321 I/L None rs1328046092 1.1730 None gnomAD-2.1.1 4.02E-06
34133 321 I/L None rs1328046092 1.1730 None gnomAD-3.1.2 6.57E-06
34133 321 I/L None rs1328046092 1.1730 None gnomAD-4.0.0 2.47856E-06
34133 321 I/T None rs764179161 1.1730 None gnomAD-2.1.1 3.92E-05
34133 321 I/T None rs764179161 1.1730 None gnomAD-3.1.2 5.26E-05
34133 321 I/T None rs764179161 1.1730 None gnomAD-4.0.0 4.2136E-05
34133 321 I/V None None 1.1730 None gnomAD-4.0.0 6.84155E-07
34134 322 E/D None None - None gnomAD-4.0.0 1.59096E-06
34134 322 E/K None rs1690433095 - None gnomAD-3.1.2 6.57E-06
34134 322 E/K None rs1690433095 - None gnomAD-4.0.0 5.12333E-06
34135 323 I/T None rs917268577 - None gnomAD-4.0.0 2.7366E-06