Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.17000007_17000008dupCA2643675365ATP13A2c.1039+4_1039+5dup (n.1039+4_1039+5dup)
c.1024+4_1024+5dup (n.1024+4_1024+5dup)
n.647+4_647+5dup
n.178+4_178+5dup
c.199+4_199+5dup (n.199+4_199+5dup)
c.178+4_178+5dup (n.178+4_178+5dup)
c.1036+4_1036+5dup (n.1036+4_1036+5dup)
c.1012+4_1012+5dup (n.1012+4_1012+5dup)
c.1021+4_1021+5dup (n.1021+4_1021+5dup)
c.997+4_997+5dup (n.997+4_997+5dup)
c.1009+4_1009+5dup (n.1009+4_1009+5dup)
 gnomAD v4
1g.17000007T>CCA2547283238ATP13A2c.1039+4A>G (n.1039+4A>G)
c.1024+4A>G (n.1024+4A>G)
n.647+4A>G
n.178+4A>G
c.199+4A>G (n.199+4A>G)
c.178+4A>G (n.178+4A>G)
c.1036+4A>G (n.1036+4A>G)
c.1012+4A>G (n.1012+4A>G)
c.1021+4A>G (n.1021+4A>G)
c.997+4A>G (n.997+4A>G)
c.1009+4A>G (n.1009+4A>G)
 gnomAD v4
1g.17000008C=CA1156038048ATP13A2c.1039+3G= (n.1039+3G=)
c.1024+3G= (n.1024+3G=)
n.647+3G=
n.178+3G=
c.199+3G= (n.199+3G=)
c.178+3G= (n.178+3G=)
c.1036+3G= (n.1036+3G=)
c.1012+3G= (n.1012+3G=)
c.1021+3G= (n.1021+3G=)
c.997+3G= (n.997+3G=)
c.1009+3G= (n.1009+3G=)
1g.17000008C>GCA521449912ATP13A2c.1039+3G>C (n.1039+3G>C)
c.1024+3G>C (n.1024+3G>C)
n.647+3G>C
n.178+3G>C
c.199+3G>C (n.199+3G>C)
c.178+3G>C (n.178+3G>C)
c.1036+3G>C (n.1036+3G>C)
c.1012+3G>C (n.1012+3G>C)
c.1021+3G>C (n.1021+3G>C)
c.997+3G>C (n.997+3G>C)
c.1009+3G>C (n.1009+3G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000008C>TCA2643675367ATP13A2c.1039+3G>A (n.1039+3G>A)
c.1024+3G>A (n.1024+3G>A)
n.647+3G>A
n.178+3G>A
c.199+3G>A (n.199+3G>A)
c.178+3G>A (n.178+3G>A)
c.1036+3G>A (n.1036+3G>A)
c.1012+3G>A (n.1012+3G>A)
c.1021+3G>A (n.1021+3G>A)
c.997+3G>A (n.997+3G>A)
c.1009+3G>A (n.1009+3G>A)
 gnomAD v4
1g.17000009A>CCA338256336ATP13A2c.1039+2T>G (n.1039+2T>G)
c.1024+2T>G (n.1024+2T>G)
n.647+2T>G
n.178+2T>G
c.199+2T>G (n.199+2T>G)
c.178+2T>G (n.178+2T>G)
c.1036+2T>G (n.1036+2T>G)
c.1012+2T>G (n.1012+2T>G)
c.1021+2T>G (n.1021+2T>G)
c.997+2T>G (n.997+2T>G)
c.1009+2T>G (n.1009+2T>G)
1g.17000009A>GCA338256333ATP13A2c.1039+2T>C (n.1039+2T>C)
c.1024+2T>C (n.1024+2T>C)
n.647+2T>C
n.178+2T>C
c.199+2T>C (n.199+2T>C)
c.178+2T>C (n.178+2T>C)
c.1036+2T>C (n.1036+2T>C)
c.1012+2T>C (n.1012+2T>C)
c.1021+2T>C (n.1021+2T>C)
c.997+2T>C (n.997+2T>C)
c.1009+2T>C (n.1009+2T>C)
1g.17000009A>TCA338256335ATP13A2c.1039+2T>A (n.1039+2T>A)
c.1024+2T>A (n.1024+2T>A)
n.647+2T>A
n.178+2T>A
c.199+2T>A (n.199+2T>A)
c.178+2T>A (n.178+2T>A)
c.1036+2T>A (n.1036+2T>A)
c.1012+2T>A (n.1012+2T>A)
c.1021+2T>A (n.1021+2T>A)
c.997+2T>A (n.997+2T>A)
c.1009+2T>A (n.1009+2T>A)
1g.17000010C>ACA338256338ATP13A2c.1039+1G>T (n.1039+1G>T)
c.1024+1G>T (n.1024+1G>T)
n.647+1G>T
n.178+1G>T
c.199+1G>T (n.199+1G>T)
c.178+1G>T (n.178+1G>T)
c.1036+1G>T (n.1036+1G>T)
c.1012+1G>T (n.1012+1G>T)
c.1021+1G>T (n.1021+1G>T)
c.997+1G>T (n.997+1G>T)
c.1009+1G>T (n.1009+1G>T)
1g.17000010C>GCA338256339ATP13A2c.1039+1G>C (n.1039+1G>C)
c.1024+1G>C (n.1024+1G>C)
n.647+1G>C
n.178+1G>C
c.199+1G>C (n.199+1G>C)
c.178+1G>C (n.178+1G>C)
c.1036+1G>C (n.1036+1G>C)
c.1012+1G>C (n.1012+1G>C)
c.1021+1G>C (n.1021+1G>C)
c.997+1G>C (n.997+1G>C)
c.1009+1G>C (n.1009+1G>C)
1g.17000010C>TCA338256341ATP13A2c.1039+1G>A (n.1039+1G>A)
c.1024+1G>A (n.1024+1G>A)
n.647+1G>A
n.178+1G>A
c.199+1G>A (n.199+1G>A)
c.178+1G>A (n.178+1G>A)
c.1036+1G>A (n.1036+1G>A)
c.1012+1G>A (n.1012+1G>A)
c.1021+1G>A (n.1021+1G>A)
c.997+1G>A (n.997+1G>A)
c.1009+1G>A (n.1009+1G>A)
1g.17000011C>ACA338256345ATP13A2c.1039G>T (p.Gly347Ter)
c.1024G>T (p.Gly342Ter)
n.647G>T
n.178G>T
c.199G>T (p.Gly67Ter)
c.962G>T
c.178G>T (p.Gly60Ter)
c.1036G>T (p.Gly346Ter)
c.1012G>T (p.Gly338Ter)
c.1021G>T (p.Gly341Ter)
c.997G>T (p.Gly333Ter)
c.1009G>T (p.Gly337Ter)
1g.17000011C>GCA338256351ATP13A2c.1039G>C (p.Gly347Arg)
c.1024G>C (p.Gly342Arg)
n.647G>C
n.178G>C
c.199G>C (p.Gly67Arg)
c.962G>C
c.178G>C (p.Gly60Arg)
c.1036G>C (p.Gly346Arg)
c.1012G>C (p.Gly338Arg)
c.1021G>C (p.Gly341Arg)
c.997G>C (p.Gly333Arg)
c.1009G>C (p.Gly337Arg)
1g.17000011C>TCA338256354ATP13A2c.1039G>A (p.Gly347Arg)
c.1024G>A (p.Gly342Arg)
n.647G>A
n.178G>A
c.199G>A (p.Gly67Arg)
c.962G>A
c.178G>A (p.Gly60Arg)
c.1036G>A (p.Gly346Arg)
c.1012G>A (p.Gly338Arg)
c.1021G>A (p.Gly341Arg)
c.997G>A (p.Gly333Arg)
c.1009G>A (p.Gly337Arg)
1g.17000012T>ACA416094557ATP13A2c.1038A>T (p.Thr346=)
c.1023A>T (p.Thr341=)
n.646A>T
n.177A>T
c.198A>T (p.Thr66=)
c.961A>T
c.177A>T (p.Thr59=)
c.1035A>T (p.Thr345=)
c.1011A>T (p.Thr337=)
c.1020A>T (p.Thr340=)
c.996A>T (p.Thr332=)
c.1008A>T (p.Thr336=)
 gnomAD v4
1g.17000012T>CCA416094559ATP13A2c.1038A>G (p.Thr346=)
c.1023A>G (p.Thr341=)
n.646A>G
n.177A>G
c.198A>G (p.Thr66=)
c.961A>G
c.177A>G (p.Thr59=)
c.1035A>G (p.Thr345=)
c.1011A>G (p.Thr337=)
c.1020A>G (p.Thr340=)
c.996A>G (p.Thr332=)
c.1008A>G (p.Thr336=)
1g.17000012T>GCA18641619ATP13A2c.1038A>C (p.Thr346=)
c.1023A>C (p.Thr341=)
n.646A>C
n.177A>C
c.198A>C (p.Thr66=)
c.961A>C
c.177A>C (p.Thr59=)
c.1035A>C (p.Thr345=)
c.1011A>C (p.Thr337=)
c.1020A>C (p.Thr340=)
c.996A>C (p.Thr332=)
c.1008A>C (p.Thr336=)
 dbSNP
1g.17000012T=CA1156038051ATP13A2c.1038A= (p.Thr346=)
c.1023A= (p.Thr341=)
n.646A=
n.177A=
c.198A= (p.Thr66=)
c.961A=
c.177A= (p.Thr59=)
c.1035A= (p.Thr345=)
c.1011A= (p.Thr337=)
c.1020A= (p.Thr340=)
c.996A= (p.Thr332=)
c.1008A= (p.Thr336=)
1g.17000013G>ACA338256356ATP13A2c.1037C>T (p.Thr346Ile)
c.1022C>T (p.Thr341Ile)
n.645C>T
n.176C>T
c.197C>T (p.Thr66Ile)
c.960C>T
c.176C>T (p.Thr59Ile)
c.1034C>T (p.Thr345Ile)
c.1010C>T (p.Thr337Ile)
c.1019C>T (p.Thr340Ile)
c.995C>T (p.Thr332Ile)
c.1007C>T (p.Thr336Ile)
 gnomAD v4
1g.17000013G>CCA338256358ATP13A2c.1037C>G (p.Thr346Arg)
c.1022C>G (p.Thr341Arg)
n.645C>G
n.176C>G
c.197C>G (p.Thr66Arg)
c.960C>G
c.176C>G (p.Thr59Arg)
c.1034C>G (p.Thr345Arg)
c.1010C>G (p.Thr337Arg)
c.1019C>G (p.Thr340Arg)
c.995C>G (p.Thr332Arg)
c.1007C>G (p.Thr336Arg)
1g.17000013G=CA1156038056ATP13A2c.1037C= (p.Thr346=)
c.1022C= (p.Thr341=)
n.645C=
n.176C=
c.197C= (p.Thr66=)
c.960C=
c.176C= (p.Thr59=)
c.1034C= (p.Thr345=)
c.1010C= (p.Thr337=)
c.1019C= (p.Thr340=)
c.995C= (p.Thr332=)
c.1007C= (p.Thr336=)
1g.17000013G>TCA338256359ATP13A2c.1037C>A (p.Thr346Lys)
c.1022C>A (p.Thr341Lys)
n.645C>A
n.176C>A
c.197C>A (p.Thr66Lys)
c.960C>A
c.176C>A (p.Thr59Lys)
c.1034C>A (p.Thr345Lys)
c.1010C>A (p.Thr337Lys)
c.1019C>A (p.Thr340Lys)
c.995C>A (p.Thr332Lys)
c.1007C>A (p.Thr336Lys)
 dbSNP gnomAD v2
1g.17000014T>ACA338256361ATP13A2c.1036A>T (p.Thr346Ser)
c.1021A>T (p.Thr341Ser)
n.644A>T
n.175A>T
c.196A>T (p.Thr66Ser)
c.959A>T
c.175A>T (p.Thr59Ser)
c.1033A>T (p.Thr345Ser)
c.1009A>T (p.Thr337Ser)
c.1018A>T (p.Thr340Ser)
c.994A>T (p.Thr332Ser)
c.1006A>T (p.Thr336Ser)
1g.17000014T>CCA338256364ATP13A2c.1036A>G (p.Thr346Ala)
c.1021A>G (p.Thr341Ala)
n.644A>G
n.175A>G
c.196A>G (p.Thr66Ala)
c.959A>G
c.175A>G (p.Thr59Ala)
c.1033A>G (p.Thr345Ala)
c.1009A>G (p.Thr337Ala)
c.1018A>G (p.Thr340Ala)
c.994A>G (p.Thr332Ala)
c.1006A>G (p.Thr336Ala)
1g.17000014T>GCA338256370ATP13A2c.1036A>C (p.Thr346Pro)
c.1021A>C (p.Thr341Pro)
n.644A>C
n.175A>C
c.196A>C (p.Thr66Pro)
c.959A>C
c.175A>C (p.Thr59Pro)
c.1033A>C (p.Thr345Pro)
c.1009A>C (p.Thr337Pro)
c.1018A>C (p.Thr340Pro)
c.994A>C (p.Thr332Pro)
c.1006A>C (p.Thr336Pro)
1g.17000015C>ACA416094563ATP13A2c.1035G>T (p.Leu345=)
c.1020G>T (p.Leu340=)
n.643G>T
n.174G>T
c.195G>T (p.Leu65=)
c.958G>T
c.174G>T (p.Leu58=)
c.1032G>T (p.Leu344=)
c.1008G>T (p.Leu336=)
c.1017G>T (p.Leu339=)
c.993G>T (p.Leu331=)
c.1005G>T (p.Leu335=)
 gnomAD v4
1g.17000015C>GCA416094564ATP13A2c.1035G>C (p.Leu345=)
c.1020G>C (p.Leu340=)
n.643G>C
n.174G>C
c.195G>C (p.Leu65=)
c.958G>C
c.174G>C (p.Leu58=)
c.1032G>C (p.Leu344=)
c.1008G>C (p.Leu336=)
c.1017G>C (p.Leu339=)
c.993G>C (p.Leu331=)
c.1005G>C (p.Leu335=)
1g.17000015C>TCA416094565ATP13A2c.1035G>A (p.Leu345=)
c.1020G>A (p.Leu340=)
n.643G>A
n.174G>A
c.195G>A (p.Leu65=)
c.958G>A
c.174G>A (p.Leu58=)
c.1032G>A (p.Leu344=)
c.1008G>A (p.Leu336=)
c.1017G>A (p.Leu339=)
c.993G>A (p.Leu331=)
c.1005G>A (p.Leu335=)
 gnomAD v4
1g.17000016A>CCA338256371ATP13A2c.1034T>G (p.Leu345Arg)
c.1019T>G (p.Leu340Arg)
n.642T>G
n.173T>G
c.194T>G (p.Leu65Arg)
c.957T>G
c.173T>G (p.Leu58Arg)
c.1031T>G (p.Leu344Arg)
c.1007T>G (p.Leu336Arg)
c.1016T>G (p.Leu339Arg)
c.992T>G (p.Leu331Arg)
c.1004T>G (p.Leu335Arg)
1g.17000016A>GCA338256373ATP13A2c.1034T>C (p.Leu345Pro)
c.1019T>C (p.Leu340Pro)
n.642T>C
n.173T>C
c.194T>C (p.Leu65Pro)
c.957T>C
c.173T>C (p.Leu58Pro)
c.1031T>C (p.Leu344Pro)
c.1007T>C (p.Leu336Pro)
c.1016T>C (p.Leu339Pro)
c.992T>C (p.Leu331Pro)
c.1004T>C (p.Leu335Pro)
 ClinVar gnomAD v4
1g.17000016A>TCA338256372ATP13A2c.1034T>A (p.Leu345Gln)
c.1019T>A (p.Leu340Gln)
n.642T>A
n.173T>A
c.194T>A (p.Leu65Gln)
c.957T>A
c.173T>A (p.Leu58Gln)
c.1031T>A (p.Leu344Gln)
c.1007T>A (p.Leu336Gln)
c.1016T>A (p.Leu339Gln)
c.992T>A (p.Leu331Gln)
c.1004T>A (p.Leu335Gln)
1g.17000020_17000021delCA2695197977ATP13A2c.1033_1034del (p.Leu345AspfsTer?)
c.1018_1019del (p.Leu340AspfsTer?)
n.641_642del
n.172_173del
c.193_194del (p.Leu65AspfsTer?)
c.956_957del
c.172_173del (p.Leu58AspfsTer?)
c.1030_1031del (p.Leu344AspfsTer?)
c.1006_1007del (p.Leu336AspfsTer?)
c.1015_1016del (p.Leu339AspfsTer?)
c.991_992del (p.Leu331AspfsTer?)
c.1003_1004del (p.Leu335AspfsTer?)
 ClinVar
1g.17000018_17000021delCA2574235082ATP13A2c.1031_1034del (p.Ser344Ter)
c.1016_1019del (p.Ser339Ter)
n.639_642del
n.170_173del
c.191_194del (p.Ser64Ter)
c.954_957del
c.170_173del (p.Ser57Ter)
c.1028_1031del (p.Ser343Ter)
c.1004_1007del (p.Ser335Ter)
c.1013_1016del (p.Ser338Ter)
c.989_992del (p.Ser330Ter)
c.1001_1004del (p.Ser334Ter)
1g.17000017G>ACA416094566ATP13A2c.1033C>T (p.Leu345=)
c.1018C>T (p.Leu340=)
n.641C>T
n.172C>T
c.193C>T (p.Leu65=)
c.956C>T
c.172C>T (p.Leu58=)
c.1030C>T (p.Leu344=)
c.1006C>T (p.Leu336=)
c.1015C>T (p.Leu339=)
c.991C>T (p.Leu331=)
c.1003C>T (p.Leu335=)
1g.17000017G>CCA338256374ATP13A2c.1033C>G (p.Leu345Val)
c.1018C>G (p.Leu340Val)
n.641C>G
n.172C>G
c.193C>G (p.Leu65Val)
c.956C>G
c.172C>G (p.Leu58Val)
c.1030C>G (p.Leu344Val)
c.1006C>G (p.Leu336Val)
c.1015C>G (p.Leu339Val)
c.991C>G (p.Leu331Val)
c.1003C>G (p.Leu335Val)
1g.17000017G>TCA338256375ATP13A2c.1033C>A (p.Leu345Met)
c.1018C>A (p.Leu340Met)
n.641C>A
n.172C>A
c.193C>A (p.Leu65Met)
c.956C>A
c.172C>A (p.Leu58Met)
c.1030C>A (p.Leu344Met)
c.1006C>A (p.Leu336Met)
c.1015C>A (p.Leu339Met)
c.991C>A (p.Leu331Met)
c.1003C>A (p.Leu335Met)
1g.17000018A=CA1156038061ATP13A2c.1032T= (p.Ser344=)
c.1017T= (p.Ser339=)
n.640T=
n.171T=
c.192T= (p.Ser64=)
c.955T=
c.171T= (p.Ser57=)
c.1029T= (p.Ser343=)
c.1005T= (p.Ser335=)
c.1014T= (p.Ser338=)
c.990T= (p.Ser330=)
c.1002T= (p.Ser334=)
1g.17000018A>CCA416094568ATP13A2c.1032T>G (p.Ser344=)
c.1017T>G (p.Ser339=)
n.640T>G
n.171T>G
c.192T>G (p.Ser64=)
c.955T>G
c.171T>G (p.Ser57=)
c.1029T>G (p.Ser343=)
c.1005T>G (p.Ser335=)
c.1014T>G (p.Ser338=)
c.990T>G (p.Ser330=)
c.1002T>G (p.Ser334=)
1g.17000018A>GCA637399ATP13A2c.1032T>C (p.Ser344=)
c.1017T>C (p.Ser339=)
n.640T>C
n.171T>C
c.192T>C (p.Ser64=)
c.955T>C
c.171T>C (p.Ser57=)
c.1029T>C (p.Ser343=)
c.1005T>C (p.Ser335=)
c.1014T>C (p.Ser338=)
c.990T>C (p.Ser330=)
c.1002T>C (p.Ser334=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000018A>TCA416094570ATP13A2c.1032T>A (p.Ser344=)
c.1017T>A (p.Ser339=)
n.640T>A
n.171T>A
c.192T>A (p.Ser64=)
c.955T>A
c.171T>A (p.Ser57=)
c.1029T>A (p.Ser343=)
c.1005T>A (p.Ser335=)
c.1014T>A (p.Ser338=)
c.990T>A (p.Ser330=)
c.1002T>A (p.Ser334=)
1g.17000019G>ACA338256401ATP13A2c.1031C>T (p.Ser344Phe)
c.1016C>T (p.Ser339Phe)
n.639C>T
n.170C>T
c.191C>T (p.Ser64Phe)
c.954C>T
c.170C>T (p.Ser57Phe)
c.1028C>T (p.Ser343Phe)
c.1004C>T (p.Ser335Phe)
c.1013C>T (p.Ser338Phe)
c.989C>T (p.Ser330Phe)
c.1001C>T (p.Ser334Phe)
 gnomAD v4
1g.17000019G>CCA338256382ATP13A2c.1031C>G (p.Ser344Cys)
c.1016C>G (p.Ser339Cys)
n.639C>G
n.170C>G
c.191C>G (p.Ser64Cys)
c.954C>G
c.170C>G (p.Ser57Cys)
c.1028C>G (p.Ser343Cys)
c.1004C>G (p.Ser335Cys)
c.1013C>G (p.Ser338Cys)
c.989C>G (p.Ser330Cys)
c.1001C>G (p.Ser334Cys)
 gnomAD v4
1g.17000019G>TCA338256385ATP13A2c.1031C>A (p.Ser344Tyr)
c.1016C>A (p.Ser339Tyr)
n.639C>A
n.170C>A
c.191C>A (p.Ser64Tyr)
c.954C>A
c.170C>A (p.Ser57Tyr)
c.1028C>A (p.Ser343Tyr)
c.1004C>A (p.Ser335Tyr)
c.1013C>A (p.Ser338Tyr)
c.989C>A (p.Ser330Tyr)
c.1001C>A (p.Ser334Tyr)
1g.17000020A=CA1156038069ATP13A2c.1030T= (p.Ser344=)
c.1015T= (p.Ser339=)
n.638T=
n.169T=
c.190T= (p.Ser64=)
c.953T=
c.169T= (p.Ser57=)
c.1027T= (p.Ser343=)
c.1003T= (p.Ser335=)
c.1012T= (p.Ser338=)
c.988T= (p.Ser330=)
c.1000T= (p.Ser334=)
1g.17000020A>CCA338256404ATP13A2c.1030T>G (p.Ser344Ala)
c.1015T>G (p.Ser339Ala)
n.638T>G
n.169T>G
c.190T>G (p.Ser64Ala)
c.953T>G
c.169T>G (p.Ser57Ala)
c.1027T>G (p.Ser343Ala)
c.1003T>G (p.Ser335Ala)
c.1012T>G (p.Ser338Ala)
c.988T>G (p.Ser330Ala)
c.1000T>G (p.Ser334Ala)
1g.17000020A>GCA637400ATP13A2c.1030T>C (p.Ser344Pro)
c.1015T>C (p.Ser339Pro)
n.638T>C
n.169T>C
c.190T>C (p.Ser64Pro)
c.953T>C
c.169T>C (p.Ser57Pro)
c.1027T>C (p.Ser343Pro)
c.1003T>C (p.Ser335Pro)
c.1012T>C (p.Ser338Pro)
c.988T>C (p.Ser330Pro)
c.1000T>C (p.Ser334Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000020A>TCA338256408ATP13A2c.1030T>A (p.Ser344Thr)
c.1015T>A (p.Ser339Thr)
n.638T>A
n.169T>A
c.190T>A (p.Ser64Thr)
c.953T>A
c.169T>A (p.Ser57Thr)
c.1027T>A (p.Ser343Thr)
c.1003T>A (p.Ser335Thr)
c.1012T>A (p.Ser338Thr)
c.988T>A (p.Ser330Thr)
c.1000T>A (p.Ser334Thr)
 gnomAD v4
1g.17000021G>ACA416094573ATP13A2c.1029C>T (p.Ser343=)
c.1014C>T (p.Ser338=)
n.637C>T
n.168C>T
c.189C>T (p.Ser63=)
c.952C>T
c.168C>T (p.Ser56=)
c.1026C>T (p.Ser342=)
c.1002C>T (p.Ser334=)
c.1011C>T (p.Ser337=)
c.987C>T (p.Ser329=)
c.999C>T (p.Ser333=)
 gnomAD v4
1g.17000021G>CCA338256409ATP13A2c.1029C>G (p.Ser343Arg)
c.1014C>G (p.Ser338Arg)
n.637C>G
n.168C>G
c.189C>G (p.Ser63Arg)
c.952C>G
c.168C>G (p.Ser56Arg)
c.1026C>G (p.Ser342Arg)
c.1002C>G (p.Ser334Arg)
c.1011C>G (p.Ser337Arg)
c.987C>G (p.Ser329Arg)
c.999C>G (p.Ser333Arg)
1g.17000021G>TCA338256410ATP13A2c.1029C>A (p.Ser343Arg)
c.1014C>A (p.Ser338Arg)
n.637C>A
n.168C>A
c.189C>A (p.Ser63Arg)
c.952C>A
c.168C>A (p.Ser56Arg)
c.1026C>A (p.Ser342Arg)
c.1002C>A (p.Ser334Arg)
c.1011C>A (p.Ser337Arg)
c.987C>A (p.Ser329Arg)
c.999C>A (p.Ser333Arg)
 gnomAD v4
1g.17000022C>ACA338256411ATP13A2c.1028G>T (p.Ser343Ile)
c.1013G>T (p.Ser338Ile)
n.636G>T
n.167G>T
c.188G>T (p.Ser63Ile)
c.951G>T
c.167G>T (p.Ser56Ile)
c.1025G>T (p.Ser342Ile)
c.1001G>T (p.Ser334Ile)
c.1010G>T (p.Ser337Ile)
c.986G>T (p.Ser329Ile)
c.998G>T (p.Ser333Ile)
 dbSNP gnomAD v4
1g.17000022C=CA1156038072ATP13A2c.1028G= (p.Ser343=)
c.1013G= (p.Ser338=)
n.636G=
n.167G=
c.188G= (p.Ser63=)
c.951G=
c.167G= (p.Ser56=)
c.1025G= (p.Ser342=)
c.1001G= (p.Ser334=)
c.1010G= (p.Ser337=)
c.986G= (p.Ser329=)
c.998G= (p.Ser333=)
1g.17000022C>GCA338256413ATP13A2c.1028G>C (p.Ser343Thr)
c.1013G>C (p.Ser338Thr)
n.636G>C
n.167G>C
c.188G>C (p.Ser63Thr)
c.951G>C
c.167G>C (p.Ser56Thr)
c.1025G>C (p.Ser342Thr)
c.1001G>C (p.Ser334Thr)
c.1010G>C (p.Ser337Thr)
c.986G>C (p.Ser329Thr)
c.998G>C (p.Ser333Thr)
 gnomAD v4
1g.17000022C>TCA338256416ATP13A2c.1028G>A (p.Ser343Asn)
c.1013G>A (p.Ser338Asn)
n.636G>A
n.167G>A
c.188G>A (p.Ser63Asn)
c.951G>A
c.167G>A (p.Ser56Asn)
c.1025G>A (p.Ser342Asn)
c.1001G>A (p.Ser334Asn)
c.1010G>A (p.Ser337Asn)
c.986G>A (p.Ser329Asn)
c.998G>A (p.Ser333Asn)
 dbSNP gnomAD v2
1g.17000023T>ACA338256426ATP13A2c.1027A>T (p.Ser343Cys)
c.1012A>T (p.Ser338Cys)
n.635A>T
n.166A>T
c.187A>T (p.Ser63Cys)
c.950A>T
c.166A>T (p.Ser56Cys)
c.1024A>T (p.Ser342Cys)
c.1000A>T (p.Ser334Cys)
c.1009A>T (p.Ser337Cys)
c.985A>T (p.Ser329Cys)
c.997A>T (p.Ser333Cys)
1g.17000023T>CCA338256421ATP13A2c.1027A>G (p.Ser343Gly)
c.1012A>G (p.Ser338Gly)
n.635A>G
n.166A>G
c.187A>G (p.Ser63Gly)
c.950A>G
c.166A>G (p.Ser56Gly)
c.1024A>G (p.Ser342Gly)
c.1000A>G (p.Ser334Gly)
c.1009A>G (p.Ser337Gly)
c.985A>G (p.Ser329Gly)
c.997A>G (p.Ser333Gly)
1g.17000023T>GCA338256418ATP13A2c.1027A>C (p.Ser343Arg)
c.1012A>C (p.Ser338Arg)
n.635A>C
n.166A>C
c.187A>C (p.Ser63Arg)
c.950A>C
c.166A>C (p.Ser56Arg)
c.1024A>C (p.Ser342Arg)
c.1000A>C (p.Ser334Arg)
c.1009A>C (p.Ser337Arg)
c.985A>C (p.Ser329Arg)
c.997A>C (p.Ser333Arg)
1g.17000024C>ACA338256428ATP13A2c.1026G>T (p.Glu342Asp)
c.1011G>T (p.Glu337Asp)
n.634G>T
n.165G>T
c.186G>T (p.Glu62Asp)
c.949G>T
c.165G>T (p.Glu55Asp)
c.1023G>T (p.Glu341Asp)
c.999G>T (p.Glu333Asp)
c.1008G>T (p.Glu336Asp)
c.984G>T (p.Glu328Asp)
c.996G>T (p.Glu332Asp)
1g.17000024C=CA1156038078ATP13A2c.1026G= (p.Glu342=)
c.1011G= (p.Glu337=)
n.634G=
n.165G=
c.186G= (p.Glu62=)
c.949G=
c.165G= (p.Glu55=)
c.1023G= (p.Glu341=)
c.999G= (p.Glu333=)
c.1008G= (p.Glu336=)
c.984G= (p.Glu328=)
c.996G= (p.Glu332=)
1g.17000024C>GCA338256432ATP13A2c.1026G>C (p.Glu342Asp)
c.1011G>C (p.Glu337Asp)
n.634G>C
n.165G>C
c.186G>C (p.Glu62Asp)
c.949G>C
c.165G>C (p.Glu55Asp)
c.1023G>C (p.Glu341Asp)
c.999G>C (p.Glu333Asp)
c.1008G>C (p.Glu336Asp)
c.984G>C (p.Glu328Asp)
c.996G>C (p.Glu332Asp)
1g.17000024C>TCA416094578ATP13A2c.1026G>A (p.Glu342=)
c.1011G>A (p.Glu337=)
n.634G>A
n.165G>A
c.186G>A (p.Glu62=)
c.949G>A
c.165G>A (p.Glu55=)
c.1023G>A (p.Glu341=)
c.999G>A (p.Glu333=)
c.1008G>A (p.Glu336=)
c.984G>A (p.Glu328=)
c.996G>A (p.Glu332=)
 dbSNP gnomAD v2
1g.17000025delCA2643675370ATP13A2c.1025del (p.Glu342GlyfsTer4)
c.1010del (p.Glu337GlyfsTer4)
n.633del
n.164del
c.185del (p.Glu62GlyfsTer4)
c.948del
c.164del (p.Glu55GlyfsTer4)
c.1022del (p.Glu341GlyfsTer4)
c.998del (p.Glu333GlyfsTer4)
c.1007del (p.Glu336GlyfsTer4)
c.983del (p.Glu328GlyfsTer4)
c.995del (p.Glu332GlyfsTer4)
 gnomAD v4
1g.17000025T>ACA338256438ATP13A2c.1025A>T (p.Glu342Val)
c.1010A>T (p.Glu337Val)
n.633A>T
n.164A>T
c.185A>T (p.Glu62Val)
c.948A>T
c.164A>T (p.Glu55Val)
c.1022A>T (p.Glu341Val)
c.998A>T (p.Glu333Val)
c.1007A>T (p.Glu336Val)
c.983A>T (p.Glu328Val)
c.995A>T (p.Glu332Val)
1g.17000025T>CCA18641621ATP13A2c.1025A>G (p.Glu342Gly)
c.1010A>G (p.Glu337Gly)
n.633A>G
n.164A>G
c.185A>G (p.Glu62Gly)
c.948A>G
c.164A>G (p.Glu55Gly)
c.1022A>G (p.Glu341Gly)
c.998A>G (p.Glu333Gly)
c.1007A>G (p.Glu336Gly)
c.983A>G (p.Glu328Gly)
c.995A>G (p.Glu332Gly)
 dbSNP gnomAD v4
1g.17000025T>GCA338256448ATP13A2c.1025A>C (p.Glu342Ala)
c.1010A>C (p.Glu337Ala)
n.633A>C
n.164A>C
c.185A>C (p.Glu62Ala)
c.948A>C
c.164A>C (p.Glu55Ala)
c.1022A>C (p.Glu341Ala)
c.998A>C (p.Glu333Ala)
c.1007A>C (p.Glu336Ala)
c.983A>C (p.Glu328Ala)
c.995A>C (p.Glu332Ala)
1g.17000025T=CA1141241026ATP13A2c.1025A= (p.Glu342=)
c.1010A= (p.Glu337=)
n.633A=
n.164A=
c.185A= (p.Glu62=)
c.948A=
c.164A= (p.Glu55=)
c.1022A= (p.Glu341=)
c.998A= (p.Glu333=)
c.1007A= (p.Glu336=)
c.983A= (p.Glu328=)
c.995A= (p.Glu332=)
1g.17000026C>ACA338256456ATP13A2c.1024G>T (p.Glu342Ter)
c.1009G>T (p.Glu337Ter)
n.632G>T
n.163G>T
c.184G>T (p.Glu62Ter)
c.947G>T
c.163G>T (p.Glu55Ter)
c.1021G>T (p.Glu341Ter)
c.997G>T (p.Glu333Ter)
c.1006G>T (p.Glu336Ter)
c.982G>T (p.Glu328Ter)
c.994G>T (p.Glu332Ter)
1g.17000026C=CA1156038086ATP13A2c.1024G= (p.Glu342=)
c.1009G= (p.Glu337=)
n.632G=
n.163G=
c.184G= (p.Glu62=)
c.947G=
c.163G= (p.Glu55=)
c.1021G= (p.Glu341=)
c.997G= (p.Glu333=)
c.1006G= (p.Glu336=)
c.982G= (p.Glu328=)
c.994G= (p.Glu332=)
1g.17000026C>GCA338256459ATP13A2c.1024G>C (p.Glu342Gln)
c.1009G>C (p.Glu337Gln)
n.632G>C
n.163G>C
c.184G>C (p.Glu62Gln)
c.947G>C
c.163G>C (p.Glu55Gln)
c.1021G>C (p.Glu341Gln)
c.997G>C (p.Glu333Gln)
c.1006G>C (p.Glu336Gln)
c.982G>C (p.Glu328Gln)
c.994G>C (p.Glu332Gln)
1g.17000026C>TCA338256469ATP13A2c.1024G>A (p.Glu342Lys)
c.1009G>A (p.Glu337Lys)
n.632G>A
n.163G>A
c.184G>A (p.Glu62Lys)
c.947G>A
c.163G>A (p.Glu55Lys)
c.1021G>A (p.Glu341Lys)
c.997G>A (p.Glu333Lys)
c.1006G>A (p.Glu336Lys)
c.982G>A (p.Glu328Lys)
c.994G>A (p.Glu332Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.17000027A=CA1156038096ATP13A2c.1023T= (p.Asn341=)
c.1008T= (p.Asn336=)
n.631T=
n.162T=
c.183T= (p.Asn61=)
c.946T=
c.162T= (p.Asn54=)
c.1020T= (p.Asn340=)
c.996T= (p.Asn332=)
c.1005T= (p.Asn335=)
c.981T= (p.Asn327=)
c.993T= (p.Asn331=)
1g.17000027A>CCA338256470ATP13A2c.1023T>G (p.Asn341Lys)
c.1008T>G (p.Asn336Lys)
n.631T>G
n.162T>G
c.183T>G (p.Asn61Lys)
c.946T>G
c.162T>G (p.Asn54Lys)
c.1020T>G (p.Asn340Lys)
c.996T>G (p.Asn332Lys)
c.1005T>G (p.Asn335Lys)
c.981T>G (p.Asn327Lys)
c.993T>G (p.Asn331Lys)
1g.17000027A>GCA637401ATP13A2c.1023T>C (p.Asn341=)
c.1008T>C (p.Asn336=)
n.631T>C
n.162T>C
c.183T>C (p.Asn61=)
c.946T>C
c.162T>C (p.Asn54=)
c.1020T>C (p.Asn340=)
c.996T>C (p.Asn332=)
c.1005T>C (p.Asn335=)
c.981T>C (p.Asn327=)
c.993T>C (p.Asn331=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000027A>TCA338256471ATP13A2c.1023T>A (p.Asn341Lys)
c.1008T>A (p.Asn336Lys)
n.631T>A
n.162T>A
c.183T>A (p.Asn61Lys)
c.946T>A
c.162T>A (p.Asn54Lys)
c.1020T>A (p.Asn340Lys)
c.996T>A (p.Asn332Lys)
c.1005T>A (p.Asn335Lys)
c.981T>A (p.Asn327Lys)
c.993T>A (p.Asn331Lys)
 dbSNP
1g.17000028T>ACA338256476ATP13A2c.1022A>T (p.Asn341Ile)
c.1007A>T (p.Asn336Ile)
n.630A>T
n.161A>T
c.182A>T (p.Asn61Ile)
c.945A>T
c.161A>T (p.Asn54Ile)
c.1019A>T (p.Asn340Ile)
c.995A>T (p.Asn332Ile)
c.1004A>T (p.Asn335Ile)
c.980A>T (p.Asn327Ile)
c.992A>T (p.Asn331Ile)
1g.17000028T>CCA338256478ATP13A2c.1022A>G (p.Asn341Ser)
c.1007A>G (p.Asn336Ser)
n.630A>G
n.161A>G
c.182A>G (p.Asn61Ser)
c.945A>G
c.161A>G (p.Asn54Ser)
c.1019A>G (p.Asn340Ser)
c.995A>G (p.Asn332Ser)
c.1004A>G (p.Asn335Ser)
c.980A>G (p.Asn327Ser)
c.992A>G (p.Asn331Ser)
 dbSNP
1g.17000028T>GCA338256474ATP13A2c.1022A>C (p.Asn341Thr)
c.1007A>C (p.Asn336Thr)
n.630A>C
n.161A>C
c.182A>C (p.Asn61Thr)
c.945A>C
c.161A>C (p.Asn54Thr)
c.1019A>C (p.Asn340Thr)
c.995A>C (p.Asn332Thr)
c.1004A>C (p.Asn335Thr)
c.980A>C (p.Asn327Thr)
c.992A>C (p.Asn331Thr)
1g.17000028T=CA1156038112ATP13A2c.1022A= (p.Asn341=)
c.1007A= (p.Asn336=)
n.630A=
n.161A=
c.182A= (p.Asn61=)
c.945A=
c.161A= (p.Asn54=)
c.1019A= (p.Asn340=)
c.995A= (p.Asn332=)
c.1004A= (p.Asn335=)
c.980A= (p.Asn327=)
c.992A= (p.Asn331=)
1g.17000029T>ACA338256480ATP13A2c.1021A>T (p.Asn341Tyr)
c.1006A>T (p.Asn336Tyr)
n.629A>T
n.160A>T
c.181A>T (p.Asn61Tyr)
c.944A>T
c.160A>T (p.Asn54Tyr)
c.1018A>T (p.Asn340Tyr)
c.994A>T (p.Asn332Tyr)
c.1003A>T (p.Asn335Tyr)
c.979A>T (p.Asn327Tyr)
c.991A>T (p.Asn331Tyr)
1g.17000029T>CCA338256484ATP13A2c.1021A>G (p.Asn341Asp)
c.1006A>G (p.Asn336Asp)
n.629A>G
n.160A>G
c.181A>G (p.Asn61Asp)
c.944A>G
c.160A>G (p.Asn54Asp)
c.1018A>G (p.Asn340Asp)
c.994A>G (p.Asn332Asp)
c.1003A>G (p.Asn335Asp)
c.979A>G (p.Asn327Asp)
c.991A>G (p.Asn331Asp)
1g.17000029T>GCA338256487ATP13A2c.1021A>C (p.Asn341His)
c.1006A>C (p.Asn336His)
n.629A>C
n.160A>C
c.181A>C (p.Asn61His)
c.944A>C
c.160A>C (p.Asn54His)
c.1018A>C (p.Asn340His)
c.994A>C (p.Asn332His)
c.1003A>C (p.Asn335His)
c.979A>C (p.Asn327His)
c.991A>C (p.Asn331His)
1g.17000030C>ACA416094587ATP13A2c.1020G>T (p.Val340=)
c.1005G>T (p.Val335=)
n.628G>T
n.159G>T
c.180G>T (p.Val60=)
c.943G>T
c.159G>T (p.Val53=)
c.1017G>T (p.Val339=)
c.993G>T (p.Val331=)
c.1002G>T (p.Val334=)
c.978G>T (p.Val326=)
c.990G>T (p.Val330=)
1g.17000030C>GCA416094588ATP13A2c.1020G>C (p.Val340=)
c.1005G>C (p.Val335=)
n.628G>C
n.159G>C
c.180G>C (p.Val60=)
c.943G>C
c.159G>C (p.Val53=)
c.1017G>C (p.Val339=)
c.993G>C (p.Val331=)
c.1002G>C (p.Val334=)
c.978G>C (p.Val326=)
c.990G>C (p.Val330=)
1g.17000030C>TCA416094589ATP13A2c.1020G>A (p.Val340=)
c.1005G>A (p.Val335=)
n.628G>A
n.159G>A
c.180G>A (p.Val60=)
c.943G>A
c.159G>A (p.Val53=)
c.1017G>A (p.Val339=)
c.993G>A (p.Val331=)
c.1002G>A (p.Val334=)
c.978G>A (p.Val326=)
c.990G>A (p.Val330=)
1g.17000031A>CCA338256491ATP13A2c.1019T>G (p.Val340Gly)
c.1004T>G (p.Val335Gly)
n.627T>G
n.158T>G
c.179T>G (p.Val60Gly)
c.942T>G
c.158T>G (p.Val53Gly)
c.1016T>G (p.Val339Gly)
c.992T>G (p.Val331Gly)
c.1001T>G (p.Val334Gly)
c.977T>G (p.Val326Gly)
c.989T>G (p.Val330Gly)
1g.17000031A>GCA338256500ATP13A2c.1019T>C (p.Val340Ala)
c.1004T>C (p.Val335Ala)
n.627T>C
n.158T>C
c.179T>C (p.Val60Ala)
c.942T>C
c.158T>C (p.Val53Ala)
c.1016T>C (p.Val339Ala)
c.992T>C (p.Val331Ala)
c.1001T>C (p.Val334Ala)
c.977T>C (p.Val326Ala)
c.989T>C (p.Val330Ala)
1g.17000031A>TCA338256502ATP13A2c.1019T>A (p.Val340Glu)
c.1004T>A (p.Val335Glu)
n.627T>A
n.158T>A
c.179T>A (p.Val60Glu)
c.942T>A
c.158T>A (p.Val53Glu)
c.1016T>A (p.Val339Glu)
c.992T>A (p.Val331Glu)
c.1001T>A (p.Val334Glu)
c.977T>A (p.Val326Glu)
c.989T>A (p.Val330Glu)
1g.17000032C>ACA338256508ATP13A2c.1018G>T (p.Val340Leu)
c.1003G>T (p.Val335Leu)
n.626G>T
n.157G>T
c.178G>T (p.Val60Leu)
c.941G>T
c.157G>T (p.Val53Leu)
c.1015G>T (p.Val339Leu)
c.991G>T (p.Val331Leu)
c.1000G>T (p.Val334Leu)
c.976G>T (p.Val326Leu)
c.988G>T (p.Val330Leu)
 dbSNP
1g.17000032C=CA1156038116ATP13A2c.1018G= (p.Val340=)
c.1003G= (p.Val335=)
n.626G=
n.157G=
c.178G= (p.Val60=)
c.941G=
c.157G= (p.Val53=)
c.1015G= (p.Val339=)
c.991G= (p.Val331=)
c.1000G= (p.Val334=)
c.976G= (p.Val326=)
c.988G= (p.Val330=)
1g.17000032C>GCA338256512ATP13A2c.1018G>C (p.Val340Leu)
c.1003G>C (p.Val335Leu)
n.626G>C
n.157G>C
c.178G>C (p.Val60Leu)
c.941G>C
c.157G>C (p.Val53Leu)
c.1015G>C (p.Val339Leu)
c.991G>C (p.Val331Leu)
c.1000G>C (p.Val334Leu)
c.976G>C (p.Val326Leu)
c.988G>C (p.Val330Leu)
1g.17000032C>TCA18641628ATP13A2c.1018G>A (p.Val340Met)
c.1003G>A (p.Val335Met)
n.626G>A
n.157G>A
c.178G>A (p.Val60Met)
c.941G>A
c.157G>A (p.Val53Met)
c.1015G>A (p.Val339Met)
c.991G>A (p.Val331Met)
c.1000G>A (p.Val334Met)
c.976G>A (p.Val326Met)
c.988G>A (p.Val330Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000033C>ACA338256520ATP13A2c.1017G>T (p.Met339Ile)
c.1002G>T (p.Met334Ile)
n.625G>T
n.156G>T
c.177G>T (p.Met59Ile)
c.940G>T
c.156G>T (p.Met52Ile)
c.1014G>T (p.Met338Ile)
c.990G>T (p.Met330Ile)
c.999G>T (p.Met333Ile)
c.975G>T (p.Met325Ile)
c.987G>T (p.Met329Ile)
1g.17000033C=CA1156038142ATP13A2c.1017G= (p.Met339=)
c.1002G= (p.Met334=)
n.625G=
n.156G=
c.177G= (p.Met59=)
c.940G=
c.156G= (p.Met52=)
c.1014G= (p.Met338=)
c.990G= (p.Met330=)
c.999G= (p.Met333=)
c.975G= (p.Met325=)
c.987G= (p.Met329=)
1g.17000033C>GCA338256523ATP13A2c.1017G>C (p.Met339Ile)
c.1002G>C (p.Met334Ile)
n.625G>C
n.156G>C
c.177G>C (p.Met59Ile)
c.940G>C
c.156G>C (p.Met52Ile)
c.1014G>C (p.Met338Ile)
c.990G>C (p.Met330Ile)
c.999G>C (p.Met333Ile)
c.975G>C (p.Met325Ile)
c.987G>C (p.Met329Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.17000033C>TCA338256528ATP13A2c.1017G>A (p.Met339Ile)
c.1002G>A (p.Met334Ile)
n.625G>A
n.156G>A
c.177G>A (p.Met59Ile)
c.940G>A
c.156G>A (p.Met52Ile)
c.1014G>A (p.Met338Ile)
c.990G>A (p.Met330Ile)
c.999G>A (p.Met333Ile)
c.975G>A (p.Met325Ile)
c.987G>A (p.Met329Ile)
1g.17000034A>CCA338256536ATP13A2c.1016T>G (p.Met339Arg)
c.1001T>G (p.Met334Arg)
n.624T>G
n.155T>G
c.176T>G (p.Met59Arg)
c.939T>G
c.155T>G (p.Met52Arg)
c.1013T>G (p.Met338Arg)
c.989T>G (p.Met330Arg)
c.998T>G (p.Met333Arg)
c.974T>G (p.Met325Arg)
c.986T>G (p.Met329Arg)
1g.17000034A>GCA338256531ATP13A2c.1016T>C (p.Met339Thr)
c.1001T>C (p.Met334Thr)
n.624T>C
n.155T>C
c.176T>C (p.Met59Thr)
c.939T>C
c.155T>C (p.Met52Thr)
c.1013T>C (p.Met338Thr)
c.989T>C (p.Met330Thr)
c.998T>C (p.Met333Thr)
c.974T>C (p.Met325Thr)
c.986T>C (p.Met329Thr)
 gnomAD v4
1g.17000034A>TCA338256532ATP13A2c.1016T>A (p.Met339Lys)
c.1001T>A (p.Met334Lys)
n.624T>A
n.155T>A
c.176T>A (p.Met59Lys)
c.939T>A
c.155T>A (p.Met52Lys)
c.1013T>A (p.Met338Lys)
c.989T>A (p.Met330Lys)
c.998T>A (p.Met333Lys)
c.974T>A (p.Met325Lys)
c.986T>A (p.Met329Lys)
1g.17000035T>ACA338256539ATP13A2c.1015A>T (p.Met339Leu)
c.1000A>T (p.Met334Leu)
n.623A>T
n.154A>T
c.175A>T (p.Met59Leu)
c.938A>T
c.154A>T (p.Met52Leu)
c.1012A>T (p.Met338Leu)
c.988A>T (p.Met330Leu)
c.997A>T (p.Met333Leu)
c.973A>T (p.Met325Leu)
c.985A>T (p.Met329Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.17000035T>CCA338256540ATP13A2c.1015A>G (p.Met339Val)
c.1000A>G (p.Met334Val)
n.623A>G
n.154A>G
c.175A>G (p.Met59Val)
c.938A>G
c.154A>G (p.Met52Val)
c.1012A>G (p.Met338Val)
c.988A>G (p.Met330Val)
c.997A>G (p.Met333Val)
c.973A>G (p.Met325Val)
c.985A>G (p.Met329Val)
 dbSNP gnomAD v2 gnomAD v4
1g.17000035T>GCA338256544ATP13A2c.1015A>C (p.Met339Leu)
c.1000A>C (p.Met334Leu)
n.623A>C
n.154A>C
c.175A>C (p.Met59Leu)
c.938A>C
c.154A>C (p.Met52Leu)
c.1012A>C (p.Met338Leu)
c.988A>C (p.Met330Leu)
c.997A>C (p.Met333Leu)
c.973A>C (p.Met325Leu)
c.985A>C (p.Met329Leu)
1g.17000035T=CA1156038156ATP13A2c.1015A= (p.Met339=)
c.1000A= (p.Met334=)
n.623A=
n.154A=
c.175A= (p.Met59=)
c.938A=
c.154A= (p.Met52=)
c.1012A= (p.Met338=)
c.988A= (p.Met330=)
c.997A= (p.Met333=)
c.973A= (p.Met325=)
c.985A= (p.Met329=)
1g.17000036G>ACA416094593ATP13A2c.1014C>T (p.Cys338=)
c.999C>T (p.Cys333=)
n.622C>T
n.153C>T
c.174C>T (p.Cys58=)
c.937C>T
c.153C>T (p.Cys51=)
c.1011C>T (p.Cys337=)
c.987C>T (p.Cys329=)
c.996C>T (p.Cys332=)
c.972C>T (p.Cys324=)
c.984C>T (p.Cys328=)
1g.17000036G>CCA338256548ATP13A2c.1014C>G (p.Cys338Trp)
c.999C>G (p.Cys333Trp)
n.622C>G
n.153C>G
c.174C>G (p.Cys58Trp)
c.937C>G
c.153C>G (p.Cys51Trp)
c.1011C>G (p.Cys337Trp)
c.987C>G (p.Cys329Trp)
c.996C>G (p.Cys332Trp)
c.972C>G (p.Cys324Trp)
c.984C>G (p.Cys328Trp)
1g.17000036G>TCA338256552ATP13A2c.1014C>A (p.Cys338Ter)
c.999C>A (p.Cys333Ter)
n.622C>A
n.153C>A
c.174C>A (p.Cys58Ter)
c.937C>A
c.153C>A (p.Cys51Ter)
c.1011C>A (p.Cys337Ter)
c.987C>A (p.Cys329Ter)
c.996C>A (p.Cys332Ter)
c.972C>A (p.Cys324Ter)
c.984C>A (p.Cys328Ter)
1g.17000037C>ACA338256558ATP13A2c.1013G>T (p.Cys338Phe)
c.998G>T (p.Cys333Phe)
n.621G>T
n.152G>T
c.173G>T (p.Cys58Phe)
c.936G>T
c.152G>T (p.Cys51Phe)
c.1010G>T (p.Cys337Phe)
c.986G>T (p.Cys329Phe)
c.995G>T (p.Cys332Phe)
c.971G>T (p.Cys324Phe)
c.983G>T (p.Cys328Phe)
1g.17000037C>GCA338256563ATP13A2c.1013G>C (p.Cys338Ser)
c.998G>C (p.Cys333Ser)
n.621G>C
n.152G>C
c.173G>C (p.Cys58Ser)
c.936G>C
c.152G>C (p.Cys51Ser)
c.1010G>C (p.Cys337Ser)
c.986G>C (p.Cys329Ser)
c.995G>C (p.Cys332Ser)
c.971G>C (p.Cys324Ser)
c.983G>C (p.Cys328Ser)
1g.17000037C>TCA338256564ATP13A2c.1013G>A (p.Cys338Tyr)
c.998G>A (p.Cys333Tyr)
n.621G>A
n.152G>A
c.173G>A (p.Cys58Tyr)
c.936G>A
c.152G>A (p.Cys51Tyr)
c.1010G>A (p.Cys337Tyr)
c.986G>A (p.Cys329Tyr)
c.995G>A (p.Cys332Tyr)
c.971G>A (p.Cys324Tyr)
c.983G>A (p.Cys328Tyr)
 gnomAD v4
1g.17000038A=CA1156038160ATP13A2c.1012T= (p.Cys338=)
c.997T= (p.Cys333=)
n.620T=
n.151T=
c.172T= (p.Cys58=)
c.935T=
c.151T= (p.Cys51=)
c.1009T= (p.Cys337=)
c.985T= (p.Cys329=)
c.994T= (p.Cys332=)
c.970T= (p.Cys324=)
c.982T= (p.Cys328=)
1g.17000038A>CCA338256566ATP13A2c.1012T>G (p.Cys338Gly)
c.997T>G (p.Cys333Gly)
n.620T>G
n.151T>G
c.172T>G (p.Cys58Gly)
c.935T>G
c.151T>G (p.Cys51Gly)
c.1009T>G (p.Cys337Gly)
c.985T>G (p.Cys329Gly)
c.994T>G (p.Cys332Gly)
c.970T>G (p.Cys324Gly)
c.982T>G (p.Cys328Gly)
 dbSNP
1g.17000038A>GCA338256568ATP13A2c.1012T>C (p.Cys338Arg)
c.997T>C (p.Cys333Arg)
n.620T>C
n.151T>C
c.172T>C (p.Cys58Arg)
c.935T>C
c.151T>C (p.Cys51Arg)
c.1009T>C (p.Cys337Arg)
c.985T>C (p.Cys329Arg)
c.994T>C (p.Cys332Arg)
c.970T>C (p.Cys324Arg)
c.982T>C (p.Cys328Arg)
1g.17000038A>TCA338256571ATP13A2c.1012T>A (p.Cys338Ser)
c.997T>A (p.Cys333Ser)
n.620T>A
n.151T>A
c.172T>A (p.Cys58Ser)
c.935T>A
c.151T>A (p.Cys51Ser)
c.1009T>A (p.Cys337Ser)
c.985T>A (p.Cys329Ser)
c.994T>A (p.Cys332Ser)
c.970T>A (p.Cys324Ser)
c.982T>A (p.Cys328Ser)
1g.17000039C>ACA338256577ATP13A2c.1011G>T (p.Glu337Asp)
c.996G>T (p.Glu332Asp)
n.619G>T
n.150G>T
c.171G>T (p.Glu57Asp)
c.934G>T
c.150G>T (p.Glu50Asp)
c.1008G>T (p.Glu336Asp)
c.984G>T (p.Glu328Asp)
c.993G>T (p.Glu331Asp)
c.969G>T (p.Glu323Asp)
c.981G>T (p.Glu327Asp)
1g.17000039C=CA1156038164ATP13A2c.1011G= (p.Glu337=)
c.996G= (p.Glu332=)
n.619G=
n.150G=
c.171G= (p.Glu57=)
c.934G=
c.150G= (p.Glu50=)
c.1008G= (p.Glu336=)
c.984G= (p.Glu328=)
c.993G= (p.Glu331=)
c.969G= (p.Glu323=)
c.981G= (p.Glu327=)
1g.17000039C>GCA338256578ATP13A2c.1011G>C (p.Glu337Asp)
c.996G>C (p.Glu332Asp)
n.619G>C
n.150G>C
c.171G>C (p.Glu57Asp)
c.934G>C
c.150G>C (p.Glu50Asp)
c.1008G>C (p.Glu336Asp)
c.984G>C (p.Glu328Asp)
c.993G>C (p.Glu331Asp)
c.969G>C (p.Glu323Asp)
c.981G>C (p.Glu327Asp)
1g.17000039C>TCA416094596ATP13A2c.1011G>A (p.Glu337=)
c.996G>A (p.Glu332=)
n.619G>A
n.150G>A
c.171G>A (p.Glu57=)
c.934G>A
c.150G>A (p.Glu50=)
c.1008G>A (p.Glu336=)
c.984G>A (p.Glu328=)
c.993G>A (p.Glu331=)
c.969G>A (p.Glu323=)
c.981G>A (p.Glu327=)
 dbSNP gnomAD v2 gnomAD v4
1g.17000040T>ACA338256585ATP13A2c.1010A>T (p.Glu337Val)
c.995A>T (p.Glu332Val)
n.618A>T
n.149A>T
c.170A>T (p.Glu57Val)
c.933A>T
c.149A>T (p.Glu50Val)
c.1007A>T (p.Glu336Val)
c.983A>T (p.Glu328Val)
c.992A>T (p.Glu331Val)
c.968A>T (p.Glu323Val)
c.980A>T (p.Glu327Val)
1g.17000040T>CCA338256586ATP13A2c.1010A>G (p.Glu337Gly)
c.995A>G (p.Glu332Gly)
n.618A>G
n.149A>G
c.170A>G (p.Glu57Gly)
c.933A>G
c.149A>G (p.Glu50Gly)
c.1007A>G (p.Glu336Gly)
c.983A>G (p.Glu328Gly)
c.992A>G (p.Glu331Gly)
c.968A>G (p.Glu323Gly)
c.980A>G (p.Glu327Gly)
1g.17000040T>GCA338256582ATP13A2c.1010A>C (p.Glu337Ala)
c.995A>C (p.Glu332Ala)
n.618A>C
n.149A>C
c.170A>C (p.Glu57Ala)
c.933A>C
c.149A>C (p.Glu50Ala)
c.1007A>C (p.Glu336Ala)
c.983A>C (p.Glu328Ala)
c.992A>C (p.Glu331Ala)
c.968A>C (p.Glu323Ala)
c.980A>C (p.Glu327Ala)
1g.17000041C>ACA338256588ATP13A2c.1009G>T (p.Glu337Ter)
c.994G>T (p.Glu332Ter)
n.617G>T
n.148G>T
c.169G>T (p.Glu57Ter)
c.932G>T
c.148G>T (p.Glu50Ter)
c.1006G>T (p.Glu336Ter)
c.982G>T (p.Glu328Ter)
c.991G>T (p.Glu331Ter)
c.967G>T (p.Glu323Ter)
c.979G>T (p.Glu327Ter)
1g.17000041C=CA1144793556ATP13A2c.1009G= (p.Glu337=)
c.994G= (p.Glu332=)
n.617G=
n.148G=
c.169G= (p.Glu57=)
c.932G=
c.148G= (p.Glu50=)
c.1006G= (p.Glu336=)
c.982G= (p.Glu328=)
c.991G= (p.Glu331=)
c.967G= (p.Glu323=)
c.979G= (p.Glu327=)
1g.17000041C>GCA338256587ATP13A2c.1009G>C (p.Glu337Gln)
c.994G>C (p.Glu332Gln)
n.617G>C
n.148G>C
c.169G>C (p.Glu57Gln)
c.932G>C
c.148G>C (p.Glu50Gln)
c.1006G>C (p.Glu336Gln)
c.982G>C (p.Glu328Gln)
c.991G>C (p.Glu331Gln)
c.967G>C (p.Glu323Gln)
c.979G>C (p.Glu327Gln)
1g.17000041C>TCA637402ATP13A2c.1009G>A (p.Glu337Lys)
c.994G>A (p.Glu332Lys)
n.617G>A
n.148G>A
c.169G>A (p.Glu57Lys)
c.932G>A
c.148G>A (p.Glu50Lys)
c.1006G>A (p.Glu336Lys)
c.982G>A (p.Glu328Lys)
c.991G>A (p.Glu331Lys)
c.967G>A (p.Glu323Lys)
c.979G>A (p.Glu327Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000042G>ACA416094602ATP13A2c.1008C>T (p.Gly336=)
c.993C>T (p.Gly331=)
n.616C>T
n.147C>T
c.168C>T (p.Gly56=)
c.931C>T
c.147C>T (p.Gly49=)
c.1005C>T (p.Gly335=)
c.981C>T (p.Gly327=)
c.990C>T (p.Gly330=)
c.966C>T (p.Gly322=)
c.978C>T (p.Gly326=)
 dbSNP gnomAD v2 gnomAD v4
1g.17000042G>CCA416094601ATP13A2c.1008C>G (p.Gly336=)
c.993C>G (p.Gly331=)
n.616C>G
n.147C>G
c.168C>G (p.Gly56=)
c.931C>G
c.147C>G (p.Gly49=)
c.1005C>G (p.Gly335=)
c.981C>G (p.Gly327=)
c.990C>G (p.Gly330=)
c.966C>G (p.Gly322=)
c.978C>G (p.Gly326=)
1g.17000042G=CA1156038170ATP13A2c.1008C= (p.Gly336=)
c.993C= (p.Gly331=)
n.616C=
n.147C=
c.168C= (p.Gly56=)
c.931C=
c.147C= (p.Gly49=)
c.1005C= (p.Gly335=)
c.981C= (p.Gly327=)
c.990C= (p.Gly330=)
c.966C= (p.Gly322=)
c.978C= (p.Gly326=)
1g.17000042G>TCA416094600ATP13A2c.1008C>A (p.Gly336=)
c.993C>A (p.Gly331=)
n.616C>A
n.147C>A
c.168C>A (p.Gly56=)
c.931C>A
c.147C>A (p.Gly49=)
c.1005C>A (p.Gly335=)
c.981C>A (p.Gly327=)
c.990C>A (p.Gly330=)
c.966C>A (p.Gly322=)
c.978C>A (p.Gly326=)
1g.17000043C>ACA338256589ATP13A2c.1007G>T (p.Gly336Val)
c.992G>T (p.Gly331Val)
n.615G>T
n.146G>T
c.167G>T (p.Gly56Val)
c.930G>T
c.146G>T (p.Gly49Val)
c.1004G>T (p.Gly335Val)
c.980G>T (p.Gly327Val)
c.989G>T (p.Gly330Val)
c.965G>T (p.Gly322Val)
c.977G>T (p.Gly326Val)
1g.17000043C=CA1156038174ATP13A2c.1007G= (p.Gly336=)
c.992G= (p.Gly331=)
n.615G=
n.146G=
c.167G= (p.Gly56=)
c.930G=
c.146G= (p.Gly49=)
c.1004G= (p.Gly335=)
c.980G= (p.Gly327=)
c.989G= (p.Gly330=)
c.965G= (p.Gly322=)
c.977G= (p.Gly326=)
1g.17000043C>GCA338256592ATP13A2c.1007G>C (p.Gly336Ala)
c.992G>C (p.Gly331Ala)
n.615G>C
n.146G>C
c.167G>C (p.Gly56Ala)
c.930G>C
c.146G>C (p.Gly49Ala)
c.1004G>C (p.Gly335Ala)
c.980G>C (p.Gly327Ala)
c.989G>C (p.Gly330Ala)
c.965G>C (p.Gly322Ala)
c.977G>C (p.Gly326Ala)
1g.17000043C>TCA338256594ATP13A2c.1007G>A (p.Gly336Asp)
c.992G>A (p.Gly331Asp)
n.615G>A
n.146G>A
c.167G>A (p.Gly56Asp)
c.930G>A
c.146G>A (p.Gly49Asp)
c.1004G>A (p.Gly335Asp)
c.980G>A (p.Gly327Asp)
c.989G>A (p.Gly330Asp)
c.965G>A (p.Gly322Asp)
c.977G>A (p.Gly326Asp)
 dbSNP
1g.17000044C>ACA338256597ATP13A2c.1006G>T (p.Gly336Cys)
c.991G>T (p.Gly331Cys)
n.614G>T
n.145G>T
c.166G>T (p.Gly56Cys)
c.929G>T
c.145G>T (p.Gly49Cys)
c.1003G>T (p.Gly335Cys)
c.979G>T (p.Gly327Cys)
c.988G>T (p.Gly330Cys)
c.964G>T (p.Gly322Cys)
c.976G>T (p.Gly326Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000044C=CA1156038190ATP13A2c.1006G= (p.Gly336=)
c.991G= (p.Gly331=)
n.614G=
n.145G=
c.166G= (p.Gly56=)
c.929G=
c.145G= (p.Gly49=)
c.1003G= (p.Gly335=)
c.979G= (p.Gly327=)
c.988G= (p.Gly330=)
c.964G= (p.Gly322=)
c.976G= (p.Gly326=)
1g.17000044C>GCA338256602ATP13A2c.1006G>C (p.Gly336Arg)
c.991G>C (p.Gly331Arg)
n.614G>C
n.145G>C
c.166G>C (p.Gly56Arg)
c.929G>C
c.145G>C (p.Gly49Arg)
c.1003G>C (p.Gly335Arg)
c.979G>C (p.Gly327Arg)
c.988G>C (p.Gly330Arg)
c.964G>C (p.Gly322Arg)
c.976G>C (p.Gly326Arg)
1g.17000044C>TCA338256605ATP13A2c.1006G>A (p.Gly336Ser)
c.991G>A (p.Gly331Ser)
n.614G>A
n.145G>A
c.166G>A (p.Gly56Ser)
c.929G>A
c.145G>A (p.Gly49Ser)
c.1003G>A (p.Gly335Ser)
c.979G>A (p.Gly327Ser)
c.988G>A (p.Gly330Ser)
c.964G>A (p.Gly322Ser)
c.976G>A (p.Gly326Ser)
 dbSNP gnomAD v4
1g.17000045G>ACA151942ATP13A2c.1005C>T (p.Ala335=)
c.990C>T (p.Ala330=)
n.613C>T
n.144C>T
c.165C>T (p.Ala55=)
c.928C>T
c.144C>T (p.Ala48=)
c.1002C>T (p.Ala334=)
c.978C>T (p.Ala326=)
c.987C>T (p.Ala329=)
c.963C>T (p.Ala321=)
c.975C>T (p.Ala325=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000045G>CCA416094605ATP13A2c.1005C>G (p.Ala335=)
c.990C>G (p.Ala330=)
n.613C>G
n.144C>G
c.165C>G (p.Ala55=)
c.928C>G
c.144C>G (p.Ala48=)
c.1002C>G (p.Ala334=)
c.978C>G (p.Ala326=)
c.987C>G (p.Ala329=)
c.963C>G (p.Ala321=)
c.975C>G (p.Ala325=)
1g.17000045G=CA1140639552ATP13A2c.1005C= (p.Ala335=)
c.990C= (p.Ala330=)
n.613C=
n.144C=
c.165C= (p.Ala55=)
c.928C=
c.144C= (p.Ala48=)
c.1002C= (p.Ala334=)
c.978C= (p.Ala326=)
c.987C= (p.Ala329=)
c.963C= (p.Ala321=)
c.975C= (p.Ala325=)
1g.17000045G>TCA416094606ATP13A2c.1005C>A (p.Ala335=)
c.990C>A (p.Ala330=)
n.613C>A
n.144C>A
c.165C>A (p.Ala55=)
c.928C>A
c.144C>A (p.Ala48=)
c.1002C>A (p.Ala334=)
c.978C>A (p.Ala326=)
c.987C>A (p.Ala329=)
c.963C>A (p.Ala321=)
c.975C>A (p.Ala325=)
1g.17000046G>ACA637403ATP13A2c.1004C>T (p.Ala335Val)
c.989C>T (p.Ala330Val)
n.612C>T
n.143C>T
c.164C>T (p.Ala55Val)
c.927C>T
c.143C>T (p.Ala48Val)
c.1001C>T (p.Ala334Val)
c.977C>T (p.Ala326Val)
c.986C>T (p.Ala329Val)
c.962C>T (p.Ala321Val)
c.974C>T (p.Ala325Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000046G>CCA338256627ATP13A2c.1004C>G (p.Ala335Gly)
c.989C>G (p.Ala330Gly)
n.612C>G
n.143C>G
c.164C>G (p.Ala55Gly)
c.927C>G
c.143C>G (p.Ala48Gly)
c.1001C>G (p.Ala334Gly)
c.977C>G (p.Ala326Gly)
c.986C>G (p.Ala329Gly)
c.962C>G (p.Ala321Gly)
c.974C>G (p.Ala325Gly)
1g.17000046G=CA1156038227ATP13A2c.1004C= (p.Ala335=)
c.989C= (p.Ala330=)
n.612C=
n.143C=
c.164C= (p.Ala55=)
c.927C=
c.143C= (p.Ala48=)
c.1001C= (p.Ala334=)
c.977C= (p.Ala326=)
c.986C= (p.Ala329=)
c.962C= (p.Ala321=)
c.974C= (p.Ala325=)
1g.17000046G>TCA338256629ATP13A2c.1004C>A (p.Ala335Asp)
c.989C>A (p.Ala330Asp)
n.612C>A
n.143C>A
c.164C>A (p.Ala55Asp)
c.927C>A
c.143C>A (p.Ala48Asp)
c.1001C>A (p.Ala334Asp)
c.977C>A (p.Ala326Asp)
c.986C>A (p.Ala329Asp)
c.962C>A (p.Ala321Asp)
c.974C>A (p.Ala325Asp)
1g.17000047C>ACA338256638ATP13A2c.1003G>T (p.Ala335Ser)
c.988G>T (p.Ala330Ser)
n.611G>T
n.142G>T
c.163G>T (p.Ala55Ser)
c.926G>T
c.142G>T (p.Ala48Ser)
c.1000G>T (p.Ala334Ser)
c.976G>T (p.Ala326Ser)
c.985G>T (p.Ala329Ser)
c.961G>T (p.Ala321Ser)
c.973G>T (p.Ala325Ser)
 ClinVar dbSNP gnomAD v4
1g.17000047C=CA1156038234ATP13A2c.1003G= (p.Ala335=)
c.988G= (p.Ala330=)
n.611G=
n.142G=
c.163G= (p.Ala55=)
c.926G=
c.142G= (p.Ala48=)
c.1000G= (p.Ala334=)
c.976G= (p.Ala326=)
c.985G= (p.Ala329=)
c.961G= (p.Ala321=)
c.973G= (p.Ala325=)
1g.17000047C>GCA637404ATP13A2c.1003G>C (p.Ala335Pro)
c.988G>C (p.Ala330Pro)
n.611G>C
n.142G>C
c.163G>C (p.Ala55Pro)
c.926G>C
c.142G>C (p.Ala48Pro)
c.1000G>C (p.Ala334Pro)
c.976G>C (p.Ala326Pro)
c.985G>C (p.Ala329Pro)
c.961G>C (p.Ala321Pro)
c.973G>C (p.Ala325Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000047C>TCA338256634ATP13A2c.1003G>A (p.Ala335Thr)
c.988G>A (p.Ala330Thr)
n.611G>A
n.142G>A
c.163G>A (p.Ala55Thr)
c.926G>A
c.142G>A (p.Ala48Thr)
c.1000G>A (p.Ala334Thr)
c.976G>A (p.Ala326Thr)
c.985G>A (p.Ala329Thr)
c.961G>A (p.Ala321Thr)
c.973G>A (p.Ala325Thr)
1g.17000048C>ACA416094607ATP13A2c.1002G>T (p.Val334=)
c.987G>T (p.Val329=)
n.610G>T
n.141G>T
c.162G>T (p.Val54=)
c.925G>T
c.141G>T (p.Val47=)
c.999G>T (p.Val333=)
c.975G>T (p.Val325=)
c.984G>T (p.Val328=)
c.960G>T (p.Val320=)
c.972G>T (p.Val324=)
1g.17000048C>GCA416094608ATP13A2c.1002G>C (p.Val334=)
c.987G>C (p.Val329=)
n.610G>C
n.141G>C
c.162G>C (p.Val54=)
c.925G>C
c.141G>C (p.Val47=)
c.999G>C (p.Val333=)
c.975G>C (p.Val325=)
c.984G>C (p.Val328=)
c.960G>C (p.Val320=)
c.972G>C (p.Val324=)
1g.17000048C>TCA416094609ATP13A2c.1002G>A (p.Val334=)
c.987G>A (p.Val329=)
n.610G>A
n.141G>A
c.162G>A (p.Val54=)
c.925G>A
c.141G>A (p.Val47=)
c.999G>A (p.Val333=)
c.975G>A (p.Val325=)
c.984G>A (p.Val328=)
c.960G>A (p.Val320=)
c.972G>A (p.Val324=)
1g.17000049A>CCA338256644ATP13A2c.1001T>G (p.Val334Gly)
c.986T>G (p.Val329Gly)
n.609T>G
n.140T>G
c.161T>G (p.Val54Gly)
c.924T>G
c.140T>G (p.Val47Gly)
c.998T>G (p.Val333Gly)
c.974T>G (p.Val325Gly)
c.983T>G (p.Val328Gly)
c.959T>G (p.Val320Gly)
c.971T>G (p.Val324Gly)
1g.17000049A>GCA338256647ATP13A2c.1001T>C (p.Val334Ala)
c.986T>C (p.Val329Ala)
n.609T>C
n.140T>C
c.161T>C (p.Val54Ala)
c.924T>C
c.140T>C (p.Val47Ala)
c.998T>C (p.Val333Ala)
c.974T>C (p.Val325Ala)
c.983T>C (p.Val328Ala)
c.959T>C (p.Val320Ala)
c.971T>C (p.Val324Ala)
1g.17000049A>TCA338256650ATP13A2c.1001T>A (p.Val334Glu)
c.986T>A (p.Val329Glu)
n.609T>A
n.140T>A
c.161T>A (p.Val54Glu)
c.924T>A
c.140T>A (p.Val47Glu)
c.998T>A (p.Val333Glu)
c.974T>A (p.Val325Glu)
c.983T>A (p.Val328Glu)
c.959T>A (p.Val320Glu)
c.971T>A (p.Val324Glu)
1g.17000050C>ACA338256654ATP13A2c.1000G>T (p.Val334Leu)
c.985G>T (p.Val329Leu)
n.608G>T
n.139G>T
c.160G>T (p.Val54Leu)
c.923G>T
c.139G>T (p.Val47Leu)
c.997G>T (p.Val333Leu)
c.973G>T (p.Val325Leu)
c.982G>T (p.Val328Leu)
c.958G>T (p.Val320Leu)
c.970G>T (p.Val324Leu)
1g.17000050C=CA1156038236ATP13A2c.1000G= (p.Val334=)
c.985G= (p.Val329=)
n.608G=
n.139G=
c.160G= (p.Val54=)
c.923G=
c.139G= (p.Val47=)
c.997G= (p.Val333=)
c.973G= (p.Val325=)
c.982G= (p.Val328=)
c.958G= (p.Val320=)
c.970G= (p.Val324=)
1g.17000050C>GCA18641657ATP13A2c.1000G>C (p.Val334Leu)
c.985G>C (p.Val329Leu)
n.608G>C
n.139G>C
c.160G>C (p.Val54Leu)
c.923G>C
c.139G>C (p.Val47Leu)
c.997G>C (p.Val333Leu)
c.973G>C (p.Val325Leu)
c.982G>C (p.Val328Leu)
c.958G>C (p.Val320Leu)
c.970G>C (p.Val324Leu)
 dbSNP gnomAD v4
1g.17000050C>TCA338256659ATP13A2c.1000G>A (p.Val334Met)
c.985G>A (p.Val329Met)
n.608G>A
n.139G>A
c.160G>A (p.Val54Met)
c.923G>A
c.139G>A (p.Val47Met)
c.997G>A (p.Val333Met)
c.973G>A (p.Val325Met)
c.982G>A (p.Val328Met)
c.958G>A (p.Val320Met)
c.970G>A (p.Val324Met)
1g.17000051C>ACA416094615ATP13A2c.999G>T (p.Leu333=)
c.984G>T (p.Leu328=)
n.607G>T
n.138G>T
c.159G>T (p.Leu53=)
c.922G>T
c.138G>T (p.Leu46=)
c.996G>T (p.Leu332=)
c.972G>T (p.Leu324=)
c.981G>T (p.Leu327=)
c.957G>T (p.Leu319=)
c.969G>T (p.Leu323=)
1g.17000051C=CA1148245060ATP13A2c.999G= (p.Leu333=)
c.984G= (p.Leu328=)
n.607G=
n.138G=
c.159G= (p.Leu53=)
c.922G=
c.138G= (p.Leu46=)
c.996G= (p.Leu332=)
c.972G= (p.Leu324=)
c.981G= (p.Leu327=)
c.957G= (p.Leu319=)
c.969G= (p.Leu323=)
1g.17000051C>GCA416094617ATP13A2c.999G>C (p.Leu333=)
c.984G>C (p.Leu328=)
n.607G>C
n.138G>C
c.159G>C (p.Leu53=)
c.922G>C
c.138G>C (p.Leu46=)
c.996G>C (p.Leu332=)
c.972G>C (p.Leu324=)
c.981G>C (p.Leu327=)
c.957G>C (p.Leu319=)
c.969G>C (p.Leu323=)
 gnomAD v4
1g.17000051C>TCA637405ATP13A2c.999G>A (p.Leu333=)
c.984G>A (p.Leu328=)
n.607G>A
n.138G>A
c.159G>A (p.Leu53=)
c.922G>A
c.138G>A (p.Leu46=)
c.996G>A (p.Leu332=)
c.972G>A (p.Leu324=)
c.981G>A (p.Leu327=)
c.957G>A (p.Leu319=)
c.969G>A (p.Leu323=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000052A>CCA338256667ATP13A2c.998T>G (p.Leu333Arg)
c.983T>G (p.Leu328Arg)
n.606T>G
n.137T>G
c.158T>G (p.Leu53Arg)
c.921T>G
c.137T>G (p.Leu46Arg)
c.995T>G (p.Leu332Arg)
c.971T>G (p.Leu324Arg)
c.980T>G (p.Leu327Arg)
c.956T>G (p.Leu319Arg)
c.968T>G (p.Leu323Arg)
1g.17000052A>GCA338256670ATP13A2c.998T>C (p.Leu333Pro)
c.983T>C (p.Leu328Pro)
n.606T>C
n.137T>C
c.158T>C (p.Leu53Pro)
c.921T>C
c.137T>C (p.Leu46Pro)
c.995T>C (p.Leu332Pro)
c.971T>C (p.Leu324Pro)
c.980T>C (p.Leu327Pro)
c.956T>C (p.Leu319Pro)
c.968T>C (p.Leu323Pro)
1g.17000052A>TCA338256672ATP13A2c.998T>A (p.Leu333Gln)
c.983T>A (p.Leu328Gln)
n.606T>A
n.137T>A
c.158T>A (p.Leu53Gln)
c.921T>A
c.137T>A (p.Leu46Gln)
c.995T>A (p.Leu332Gln)
c.971T>A (p.Leu324Gln)
c.980T>A (p.Leu327Gln)
c.956T>A (p.Leu319Gln)
c.968T>A (p.Leu323Gln)
1g.17000053G>ACA416094619ATP13A2c.997C>T (p.Leu333=)
c.982C>T (p.Leu328=)
n.605C>T
n.136C>T
c.157C>T (p.Leu53=)
c.920C>T
c.136C>T (p.Leu46=)
c.994C>T (p.Leu332=)
c.970C>T (p.Leu324=)
c.979C>T (p.Leu327=)
c.955C>T (p.Leu319=)
c.967C>T (p.Leu323=)
 ClinVar dbSNP gnomAD v4
1g.17000053G>CCA338256674ATP13A2c.997C>G (p.Leu333Val)
c.982C>G (p.Leu328Val)
n.605C>G
n.136C>G
c.157C>G (p.Leu53Val)
c.920C>G
c.136C>G (p.Leu46Val)
c.994C>G (p.Leu332Val)
c.970C>G (p.Leu324Val)
c.979C>G (p.Leu327Val)
c.955C>G (p.Leu319Val)
c.967C>G (p.Leu323Val)
1g.17000053G=CA1156038248ATP13A2c.997C= (p.Leu333=)
c.982C= (p.Leu328=)
n.605C=
n.136C=
c.157C= (p.Leu53=)
c.920C=
c.136C= (p.Leu46=)
c.994C= (p.Leu332=)
c.970C= (p.Leu324=)
c.979C= (p.Leu327=)
c.955C= (p.Leu319=)
c.967C= (p.Leu323=)
1g.17000053G>TCA338256676ATP13A2c.997C>A (p.Leu333Met)
c.982C>A (p.Leu328Met)
n.605C>A
n.136C>A
c.157C>A (p.Leu53Met)
c.920C>A
c.136C>A (p.Leu46Met)
c.994C>A (p.Leu332Met)
c.970C>A (p.Leu324Met)
c.979C>A (p.Leu327Met)
c.955C>A (p.Leu319Met)
c.967C>A (p.Leu323Met)
1g.17000054G>ACA416094620ATP13A2c.996C>T (p.Ala332=)
c.981C>T (p.Ala327=)
n.604C>T
n.135C>T
c.156C>T (p.Ala52=)
c.919C>T
c.135C>T (p.Ala45=)
c.993C>T (p.Ala331=)
c.969C>T (p.Ala323=)
c.978C>T (p.Ala326=)
c.954C>T (p.Ala318=)
c.966C>T (p.Ala322=)
 dbSNP gnomAD v2 gnomAD v4
1g.17000054G>CCA416094621ATP13A2c.996C>G (p.Ala332=)
c.981C>G (p.Ala327=)
n.604C>G
n.135C>G
c.156C>G (p.Ala52=)
c.919C>G
c.135C>G (p.Ala45=)
c.993C>G (p.Ala331=)
c.969C>G (p.Ala323=)
c.978C>G (p.Ala326=)
c.954C>G (p.Ala318=)
c.966C>G (p.Ala322=)
1g.17000054G=CA1156038258ATP13A2c.996C= (p.Ala332=)
c.981C= (p.Ala327=)
n.604C=
n.135C=
c.156C= (p.Ala52=)
c.919C=
c.135C= (p.Ala45=)
c.993C= (p.Ala331=)
c.969C= (p.Ala323=)
c.978C= (p.Ala326=)
c.954C= (p.Ala318=)
c.966C= (p.Ala322=)
1g.17000054G>TCA416094622ATP13A2c.996C>A (p.Ala332=)
c.981C>A (p.Ala327=)
n.604C>A
n.135C>A
c.156C>A (p.Ala52=)
c.919C>A
c.135C>A (p.Ala45=)
c.993C>A (p.Ala331=)
c.969C>A (p.Ala323=)
c.978C>A (p.Ala326=)
c.954C>A (p.Ala318=)
c.966C>A (p.Ala322=)
1g.17000055G>ACA637406ATP13A2c.995C>T (p.Ala332Val)
c.980C>T (p.Ala327Val)
n.603C>T
n.134C>T
c.155C>T (p.Ala52Val)
c.918C>T
c.134C>T (p.Ala45Val)
c.992C>T (p.Ala331Val)
c.968C>T (p.Ala323Val)
c.977C>T (p.Ala326Val)
c.953C>T (p.Ala318Val)
c.965C>T (p.Ala322Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000055G>CCA338256678ATP13A2c.995C>G (p.Ala332Gly)
c.980C>G (p.Ala327Gly)
n.603C>G
n.134C>G
c.155C>G (p.Ala52Gly)
c.918C>G
c.134C>G (p.Ala45Gly)
c.992C>G (p.Ala331Gly)
c.968C>G (p.Ala323Gly)
c.977C>G (p.Ala326Gly)
c.953C>G (p.Ala318Gly)
c.965C>G (p.Ala322Gly)
1g.17000055G=CA1156038336ATP13A2c.995C= (p.Ala332=)
c.980C= (p.Ala327=)
n.603C=
n.134C=
c.155C= (p.Ala52=)
c.918C=
c.134C= (p.Ala45=)
c.992C= (p.Ala331=)
c.968C= (p.Ala323=)
c.977C= (p.Ala326=)
c.953C= (p.Ala318=)
c.965C= (p.Ala322=)
1g.17000055G>TCA338256677ATP13A2c.995C>A (p.Ala332Asp)
c.980C>A (p.Ala327Asp)
n.603C>A
n.134C>A
c.155C>A (p.Ala52Asp)
c.918C>A
c.134C>A (p.Ala45Asp)
c.992C>A (p.Ala331Asp)
c.968C>A (p.Ala323Asp)
c.977C>A (p.Ala326Asp)
c.953C>A (p.Ala318Asp)
c.965C>A (p.Ala322Asp)
 dbSNP
1g.17000056C>ACA338256682ATP13A2c.994G>T (p.Ala332Ser)
c.979G>T (p.Ala327Ser)
n.602G>T
n.133G>T
c.154G>T (p.Ala52Ser)
c.917G>T
c.133G>T (p.Ala45Ser)
c.991G>T (p.Ala331Ser)
c.967G>T (p.Ala323Ser)
c.976G>T (p.Ala326Ser)
c.952G>T (p.Ala318Ser)
c.964G>T (p.Ala322Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.17000056C=CA1141827733ATP13A2c.994G= (p.Ala332=)
c.979G= (p.Ala327=)
n.602G=
n.133G=
c.154G= (p.Ala52=)
c.917G=
c.133G= (p.Ala45=)
c.991G= (p.Ala331=)
c.967G= (p.Ala323=)
c.976G= (p.Ala326=)
c.952G= (p.Ala318=)
c.964G= (p.Ala322=)
1g.17000056C>GCA338256686ATP13A2c.994G>C (p.Ala332Pro)
c.979G>C (p.Ala327Pro)
n.602G>C
n.133G>C
c.154G>C (p.Ala52Pro)
c.917G>C
c.133G>C (p.Ala45Pro)
c.991G>C (p.Ala331Pro)
c.967G>C (p.Ala323Pro)
c.976G>C (p.Ala326Pro)
c.952G>C (p.Ala318Pro)
c.964G>C (p.Ala322Pro)
 gnomAD v4
1g.17000056C>TCA637407ATP13A2c.994G>A (p.Ala332Thr)
c.979G>A (p.Ala327Thr)
n.602G>A
n.133G>A
c.154G>A (p.Ala52Thr)
c.917G>A
c.133G>A (p.Ala45Thr)
c.991G>A (p.Ala331Thr)
c.967G>A (p.Ala323Thr)
c.976G>A (p.Ala326Thr)
c.952G>A (p.Ala318Thr)
c.964G>A (p.Ala322Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000057G>ACA239659ATP13A2c.993C>T (p.Ala331=)
c.978C>T (p.Ala326=)
n.601C>T
n.132C>T
c.153C>T (p.Ala51=)
c.916C>T
c.132C>T (p.Ala44=)
c.990C>T (p.Ala330=)
c.966C>T (p.Ala322=)
c.975C>T (p.Ala325=)
c.951C>T (p.Ala317=)
c.963C>T (p.Ala321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.17000057G>CCA416094631ATP13A2c.993C>G (p.Ala331=)
c.978C>G (p.Ala326=)
n.601C>G
n.132C>G
c.153C>G (p.Ala51=)
c.916C>G
c.132C>G (p.Ala44=)
c.990C>G (p.Ala330=)
c.966C>G (p.Ala322=)
c.975C>G (p.Ala325=)
c.951C>G (p.Ala317=)
c.963C>G (p.Ala321=)
1g.17000057G=CA1147367292ATP13A2c.993C= (p.Ala331=)
c.978C= (p.Ala326=)
n.601C=
n.132C=
c.153C= (p.Ala51=)
c.916C=
c.132C= (p.Ala44=)
c.990C= (p.Ala330=)
c.966C= (p.Ala322=)
c.975C= (p.Ala325=)
c.951C= (p.Ala317=)
c.963C= (p.Ala321=)
1g.17000057G>TCA416094630ATP13A2c.993C>A (p.Ala331=)
c.978C>A (p.Ala326=)
n.601C>A
n.132C>A
c.153C>A (p.Ala51=)
c.916C>A
c.132C>A (p.Ala44=)
c.990C>A (p.Ala330=)
c.966C>A (p.Ala322=)
c.975C>A (p.Ala325=)
c.951C>A (p.Ala317=)
c.963C>A (p.Ala321=)
1g.17000058G>ACA338256694ATP13A2c.992C>T (p.Ala331Val)
c.977C>T (p.Ala326Val)
n.600C>T
n.131C>T
c.152C>T (p.Ala51Val)
c.915C>T
c.131C>T (p.Ala44Val)
c.989C>T (p.Ala330Val)
c.965C>T (p.Ala322Val)
c.974C>T (p.Ala325Val)
c.950C>T (p.Ala317Val)
c.962C>T (p.Ala321Val)
1g.17000058G>CCA338256697ATP13A2c.992C>G (p.Ala331Gly)
c.977C>G (p.Ala326Gly)
n.600C>G
n.131C>G
c.152C>G (p.Ala51Gly)
c.915C>G
c.131C>G (p.Ala44Gly)
c.989C>G (p.Ala330Gly)
c.965C>G (p.Ala322Gly)
c.974C>G (p.Ala325Gly)
c.950C>G (p.Ala317Gly)
c.962C>G (p.Ala321Gly)
1g.17000058G>TCA338256699ATP13A2c.992C>A (p.Ala331Asp)
c.977C>A (p.Ala326Asp)
n.600C>A
n.131C>A
c.152C>A (p.Ala51Asp)
c.915C>A
c.131C>A (p.Ala44Asp)
c.989C>A (p.Ala330Asp)
c.965C>A (p.Ala322Asp)
c.974C>A (p.Ala325Asp)
c.950C>A (p.Ala317Asp)
c.962C>A (p.Ala321Asp)
1g.17000059C>ACA338256705ATP13A2c.991G>T (p.Ala331Ser)
c.976G>T (p.Ala326Ser)
n.599G>T
n.130G>T
c.151G>T (p.Ala51Ser)
c.914G>T
c.130G>T (p.Ala44Ser)
c.988G>T (p.Ala330Ser)
c.964G>T (p.Ala322Ser)
c.973G>T (p.Ala325Ser)
c.949G>T (p.Ala317Ser)
c.961G>T (p.Ala321Ser)
1g.17000059C>GCA338256708ATP13A2c.991G>C (p.Ala331Pro)
c.976G>C (p.Ala326Pro)
n.599G>C
n.130G>C
c.151G>C (p.Ala51Pro)
c.914G>C
c.130G>C (p.Ala44Pro)
c.988G>C (p.Ala330Pro)
c.964G>C (p.Ala322Pro)
c.973G>C (p.Ala325Pro)
c.949G>C (p.Ala317Pro)
c.961G>C (p.Ala321Pro)
1g.17000059C>TCA338256712ATP13A2c.991G>A (p.Ala331Thr)
c.976G>A (p.Ala326Thr)
n.599G>A
n.130G>A
c.151G>A (p.Ala51Thr)
c.914G>A
c.130G>A (p.Ala44Thr)
c.988G>A (p.Ala330Thr)
c.964G>A (p.Ala322Thr)
c.973G>A (p.Ala325Thr)
c.949G>A (p.Ala317Thr)
c.961G>A (p.Ala321Thr)
 gnomAD v4
1g.17000060A>CCA338256719ATP13A2c.990T>G (p.Asp330Glu)
c.975T>G (p.Asp325Glu)
n.598T>G
n.129T>G
c.150T>G (p.Asp50Glu)
c.913T>G
c.129T>G (p.Asp43Glu)
c.987T>G (p.Asp329Glu)
c.963T>G (p.Asp321Glu)
c.972T>G (p.Asp324Glu)
c.948T>G (p.Asp316Glu)
c.960T>G (p.Asp320Glu)
1g.17000060A>GCA416094638ATP13A2c.990T>C (p.Asp330=)
c.975T>C (p.Asp325=)
n.598T>C
n.129T>C
c.150T>C (p.Asp50=)
c.913T>C
c.129T>C (p.Asp43=)
c.987T>C (p.Asp329=)
c.963T>C (p.Asp321=)
c.972T>C (p.Asp324=)
c.948T>C (p.Asp316=)
c.960T>C (p.Asp320=)
1g.17000060A>TCA338256721ATP13A2c.990T>A (p.Asp330Glu)
c.975T>A (p.Asp325Glu)
n.598T>A
n.129T>A
c.150T>A (p.Asp50Glu)
c.913T>A
c.129T>A (p.Asp43Glu)
c.987T>A (p.Asp329Glu)
c.963T>A (p.Asp321Glu)
c.972T>A (p.Asp324Glu)
c.948T>A (p.Asp316Glu)
c.960T>A (p.Asp320Glu)
1g.17000061T>ACA338256738ATP13A2c.989A>T (p.Asp330Val)
c.974A>T (p.Asp325Val)
n.597A>T
n.128A>T
c.149A>T (p.Asp50Val)
c.912A>T
c.128A>T (p.Asp43Val)
c.986A>T (p.Asp329Val)
c.962A>T (p.Asp321Val)
c.971A>T (p.Asp324Val)
c.947A>T (p.Asp316Val)
c.959A>T (p.Asp320Val)
 gnomAD v4
1g.17000061T>CCA338256739ATP13A2c.989A>G (p.Asp330Gly)
c.974A>G (p.Asp325Gly)
n.597A>G
n.128A>G
c.149A>G (p.Asp50Gly)
c.912A>G
c.128A>G (p.Asp43Gly)
c.986A>G (p.Asp329Gly)
c.962A>G (p.Asp321Gly)
c.971A>G (p.Asp324Gly)
c.947A>G (p.Asp316Gly)
c.959A>G (p.Asp320Gly)
1g.17000061T>GCA338256737ATP13A2c.989A>C (p.Asp330Ala)
c.974A>C (p.Asp325Ala)
n.597A>C
n.128A>C
c.149A>C (p.Asp50Ala)
c.912A>C
c.128A>C (p.Asp43Ala)
c.986A>C (p.Asp329Ala)
c.962A>C (p.Asp321Ala)
c.971A>C (p.Asp324Ala)
c.947A>C (p.Asp316Ala)
c.959A>C (p.Asp320Ala)
1g.17000062C>ACA338256741ATP13A2c.988G>T (p.Asp330Tyr)
c.973G>T (p.Asp325Tyr)
n.596G>T
n.127G>T
c.148G>T (p.Asp50Tyr)
c.911G>T
c.127G>T (p.Asp43Tyr)
c.985G>T (p.Asp329Tyr)
c.961G>T (p.Asp321Tyr)
c.970G>T (p.Asp324Tyr)
c.946G>T (p.Asp316Tyr)
c.958G>T (p.Asp320Tyr)
1g.17000062C>GCA338256744ATP13A2c.988G>C (p.Asp330His)
c.973G>C (p.Asp325His)
n.596G>C
n.127G>C
c.148G>C (p.Asp50His)
c.911G>C
c.127G>C (p.Asp43His)
c.985G>C (p.Asp329His)
c.961G>C (p.Asp321His)
c.970G>C (p.Asp324His)
c.946G>C (p.Asp316His)
c.958G>C (p.Asp320His)
1g.17000062C>TCA338256749ATP13A2c.988G>A (p.Asp330Asn)
c.973G>A (p.Asp325Asn)
n.596G>A
n.127G>A
c.148G>A (p.Asp50Asn)
c.911G>A
c.127G>A (p.Asp43Asn)
c.985G>A (p.Asp329Asn)
c.961G>A (p.Asp321Asn)
c.970G>A (p.Asp324Asn)
c.946G>A (p.Asp316Asn)
c.958G>A (p.Asp320Asn)
1g.17000063A>CCA338256756ATP13A2c.987T>G (p.Cys329Trp)
c.972T>G (p.Cys324Trp)
n.595T>G
n.126T>G
c.147T>G (p.Cys49Trp)
c.910T>G
c.126T>G (p.Cys42Trp)
c.984T>G (p.Cys328Trp)
c.960T>G (p.Cys320Trp)
c.969T>G (p.Cys323Trp)
c.945T>G (p.Cys315Trp)
c.957T>G (p.Cys319Trp)
1g.17000063A>GCA416094647ATP13A2c.987T>C (p.Cys329=)
c.972T>C (p.Cys324=)
n.595T>C
n.126T>C
c.147T>C (p.Cys49=)
c.910T>C
c.126T>C (p.Cys42=)
c.984T>C (p.Cys328=)
c.960T>C (p.Cys320=)
c.969T>C (p.Cys323=)
c.945T>C (p.Cys315=)
c.957T>C (p.Cys319=)
1g.17000063A>TCA338256760ATP13A2c.987T>A (p.Cys329Ter)
c.972T>A (p.Cys324Ter)
n.595T>A
n.126T>A
c.147T>A (p.Cys49Ter)
c.910T>A
c.126T>A (p.Cys42Ter)
c.984T>A (p.Cys328Ter)
c.960T>A (p.Cys320Ter)
c.969T>A (p.Cys323Ter)
c.945T>A (p.Cys315Ter)
c.957T>A (p.Cys319Ter)
1g.17000064C>ACA338256767ATP13A2c.986G>T (p.Cys329Phe)
c.971G>T (p.Cys324Phe)
n.594G>T
n.125G>T
c.146G>T (p.Cys49Phe)
c.909G>T
c.125G>T (p.Cys42Phe)
c.983G>T (p.Cys328Phe)
c.959G>T (p.Cys320Phe)
c.968G>T (p.Cys323Phe)
c.944G>T (p.Cys315Phe)
c.956G>T (p.Cys319Phe)
1g.17000064C>GCA338256763ATP13A2c.986G>C (p.Cys329Ser)
c.971G>C (p.Cys324Ser)
n.594G>C
n.125G>C
c.146G>C (p.Cys49Ser)
c.909G>C
c.125G>C (p.Cys42Ser)
c.983G>C (p.Cys328Ser)
c.959G>C (p.Cys320Ser)
c.968G>C (p.Cys323Ser)
c.944G>C (p.Cys315Ser)
c.956G>C (p.Cys319Ser)
1g.17000064C>TCA338256765ATP13A2c.986G>A (p.Cys329Tyr)
c.971G>A (p.Cys324Tyr)
n.594G>A
n.125G>A
c.146G>A (p.Cys49Tyr)
c.909G>A
c.125G>A (p.Cys42Tyr)
c.983G>A (p.Cys328Tyr)
c.959G>A (p.Cys320Tyr)
c.968G>A (p.Cys323Tyr)
c.944G>A (p.Cys315Tyr)
c.956G>A (p.Cys319Tyr)
1g.17000065A>CCA338256770ATP13A2c.985T>G (p.Cys329Gly)
c.970T>G (p.Cys324Gly)
n.593T>G
n.124T>G
c.145T>G (p.Cys49Gly)
c.908T>G
c.124T>G (p.Cys42Gly)
c.982T>G (p.Cys328Gly)
c.958T>G (p.Cys320Gly)
c.967T>G (p.Cys323Gly)
c.943T>G (p.Cys315Gly)
c.955T>G (p.Cys319Gly)
1g.17000065A>GCA338256771ATP13A2c.985T>C (p.Cys329Arg)
c.970T>C (p.Cys324Arg)
n.593T>C
n.124T>C
c.145T>C (p.Cys49Arg)
c.908T>C
c.124T>C (p.Cys42Arg)
c.982T>C (p.Cys328Arg)
c.958T>C (p.Cys320Arg)
c.967T>C (p.Cys323Arg)
c.943T>C (p.Cys315Arg)
c.955T>C (p.Cys319Arg)
 gnomAD v4
1g.17000065A>TCA338256772ATP13A2c.985T>A (p.Cys329Ser)
c.970T>A (p.Cys324Ser)
n.593T>A
n.124T>A
c.145T>A (p.Cys49Ser)
c.908T>A
c.124T>A (p.Cys42Ser)
c.982T>A (p.Cys328Ser)
c.958T>A (p.Cys320Ser)
c.967T>A (p.Cys323Ser)
c.943T>A (p.Cys315Ser)
c.955T>A (p.Cys319Ser)
1g.17000066G>ACA416094652ATP13A2c.984C>T (p.Pro328=)
c.969C>T (p.Pro323=)
n.592C>T
n.123C>T
c.144C>T (p.Pro48=)
c.907C>T
c.123C>T (p.Pro41=)
c.981C>T (p.Pro327=)
c.957C>T (p.Pro319=)
c.966C>T (p.Pro322=)
c.942C>T (p.Pro314=)
c.954C>T (p.Pro318=)
1g.17000066G>CCA416094653ATP13A2c.984C>G (p.Pro328=)
c.969C>G (p.Pro323=)
n.592C>G
n.123C>G
c.144C>G (p.Pro48=)
c.907C>G
c.123C>G (p.Pro41=)
c.981C>G (p.Pro327=)
c.957C>G (p.Pro319=)
c.966C>G (p.Pro322=)
c.942C>G (p.Pro314=)
c.954C>G (p.Pro318=)
1g.17000066G>TCA416094654ATP13A2c.984C>A (p.Pro328=)
c.969C>A (p.Pro323=)
n.592C>A
n.123C>A
c.144C>A (p.Pro48=)
c.907C>A
c.123C>A (p.Pro41=)
c.981C>A (p.Pro327=)
c.957C>A (p.Pro319=)
c.966C>A (p.Pro322=)
c.942C>A (p.Pro314=)
c.954C>A (p.Pro318=)
1g.17000067G>ACA338256773ATP13A2c.983C>T (p.Pro328Leu)
c.968C>T (p.Pro323Leu)
n.591C>T
n.122C>T
c.143C>T (p.Pro48Leu)
c.906C>T
c.122C>T (p.Pro41Leu)
c.980C>T (p.Pro327Leu)
c.956C>T (p.Pro319Leu)
c.965C>T (p.Pro322Leu)
c.941C>T (p.Pro314Leu)
c.953C>T (p.Pro318Leu)
1g.17000067G>CCA338256774ATP13A2c.983C>G (p.Pro328Arg)
c.968C>G (p.Pro323Arg)
n.591C>G
n.122C>G
c.143C>G (p.Pro48Arg)
c.906C>G
c.122C>G (p.Pro41Arg)
c.980C>G (p.Pro327Arg)
c.956C>G (p.Pro319Arg)
c.965C>G (p.Pro322Arg)
c.941C>G (p.Pro314Arg)
c.953C>G (p.Pro318Arg)
1g.17000067G>TCA338256775ATP13A2c.983C>A (p.Pro328His)
c.968C>A (p.Pro323His)
n.591C>A
n.122C>A
c.143C>A (p.Pro48His)
c.906C>A
c.122C>A (p.Pro41His)
c.980C>A (p.Pro327His)
c.956C>A (p.Pro319His)
c.965C>A (p.Pro322His)
c.941C>A (p.Pro314His)
c.953C>A (p.Pro318His)
1g.17000068G>ACA338256778ATP13A2c.982C>T (p.Pro328Ser)
c.967C>T (p.Pro323Ser)
n.590C>T
n.121C>T
c.142C>T (p.Pro48Ser)
c.905C>T
c.121C>T (p.Pro41Ser)
c.979C>T (p.Pro327Ser)
c.955C>T (p.Pro319Ser)
c.964C>T (p.Pro322Ser)
c.940C>T (p.Pro314Ser)
c.952C>T (p.Pro318Ser)
1g.17000068G>CCA338256779ATP13A2c.982C>G (p.Pro328Ala)
c.967C>G (p.Pro323Ala)
n.590C>G
n.121C>G
c.142C>G (p.Pro48Ala)
c.905C>G
c.121C>G (p.Pro41Ala)
c.979C>G (p.Pro327Ala)
c.955C>G (p.Pro319Ala)
c.964C>G (p.Pro322Ala)
c.940C>G (p.Pro314Ala)
c.952C>G (p.Pro318Ala)
1g.17000068G>TCA338256777ATP13A2c.982C>A (p.Pro328Thr)
c.967C>A (p.Pro323Thr)
n.590C>A
n.121C>A
c.142C>A (p.Pro48Thr)
c.905C>A
c.121C>A (p.Pro41Thr)
c.979C>A (p.Pro327Thr)
c.955C>A (p.Pro319Thr)
c.964C>A (p.Pro322Thr)
c.940C>A (p.Pro314Thr)
c.952C>A (p.Pro318Thr)
1g.17000069C>ACA338256783ATP13A2c.981G>T (p.Met327Ile)
c.966G>T (p.Met322Ile)
n.589G>T
n.120G>T
c.141G>T (p.Met47Ile)
c.904G>T
c.120G>T (p.Met40Ile)
c.978G>T (p.Met326Ile)
c.954G>T (p.Met318Ile)
c.963G>T (p.Met321Ile)
c.939G>T (p.Met313Ile)
c.951G>T (p.Met317Ile)
1g.17000069C>GCA338256781ATP13A2c.981G>C (p.Met327Ile)
c.966G>C (p.Met322Ile)
n.589G>C
n.120G>C
c.141G>C (p.Met47Ile)
c.904G>C
c.120G>C (p.Met40Ile)
c.978G>C (p.Met326Ile)
c.954G>C (p.Met318Ile)
c.963G>C (p.Met321Ile)
c.939G>C (p.Met313Ile)
c.951G>C (p.Met317Ile)
1g.17000069C>TCA338256786ATP13A2c.981G>A (p.Met327Ile)
c.966G>A (p.Met322Ile)
n.589G>A
n.120G>A
c.141G>A (p.Met47Ile)
c.904G>A
c.120G>A (p.Met40Ile)
c.978G>A (p.Met326Ile)
c.954G>A (p.Met318Ile)
c.963G>A (p.Met321Ile)
c.939G>A (p.Met313Ile)
c.951G>A (p.Met317Ile)
 gnomAD v4
1g.17000070A>CCA338256789ATP13A2c.980T>G (p.Met327Arg)
c.965T>G (p.Met322Arg)
n.588T>G
n.119T>G
c.140T>G (p.Met47Arg)
c.903T>G
c.119T>G (p.Met40Arg)
c.977T>G (p.Met326Arg)
c.953T>G (p.Met318Arg)
c.962T>G (p.Met321Arg)
c.938T>G (p.Met313Arg)
c.950T>G (p.Met317Arg)
1g.17000070A>GCA338256792ATP13A2c.980T>C (p.Met327Thr)
c.965T>C (p.Met322Thr)
n.588T>C
n.119T>C
c.140T>C (p.Met47Thr)
c.903T>C
c.119T>C (p.Met40Thr)
c.977T>C (p.Met326Thr)
c.953T>C (p.Met318Thr)
c.962T>C (p.Met321Thr)
c.938T>C (p.Met313Thr)
c.950T>C (p.Met317Thr)
1g.17000070A>TCA338256797ATP13A2c.980T>A (p.Met327Lys)
c.965T>A (p.Met322Lys)
n.588T>A
n.119T>A
c.140T>A (p.Met47Lys)
c.903T>A
c.119T>A (p.Met40Lys)
c.977T>A (p.Met326Lys)
c.953T>A (p.Met318Lys)
c.962T>A (p.Met321Lys)
c.938T>A (p.Met313Lys)
c.950T>A (p.Met317Lys)
1g.17000071T>ACA18641668ATP13A2c.979A>T (p.Met327Leu)
c.964A>T (p.Met322Leu)
n.587A>T
n.118A>T
c.139A>T (p.Met47Leu)
c.902A>T
c.118A>T (p.Met40Leu)
c.976A>T (p.Met326Leu)
c.952A>T (p.Met318Leu)
c.961A>T (p.Met321Leu)
c.937A>T (p.Met313Leu)
c.949A>T (p.Met317Leu)
 dbSNP
1g.17000071T>CCA338256804ATP13A2c.979A>G (p.Met327Val)
c.964A>G (p.Met322Val)
n.587A>G
n.118A>G
c.139A>G (p.Met47Val)
c.902A>G
c.118A>G (p.Met40Val)
c.976A>G (p.Met326Val)
c.952A>G (p.Met318Val)
c.961A>G (p.Met321Val)
c.937A>G (p.Met313Val)
c.949A>G (p.Met317Val)
1g.17000071T>GCA338256811ATP13A2c.979A>C (p.Met327Leu)
c.964A>C (p.Met322Leu)
n.587A>C
n.118A>C
c.139A>C (p.Met47Leu)
c.902A>C
c.118A>C (p.Met40Leu)
c.976A>C (p.Met326Leu)
c.952A>C (p.Met318Leu)
c.961A>C (p.Met321Leu)
c.937A>C (p.Met313Leu)
c.949A>C (p.Met317Leu)
1g.17000071T=CA1156038363ATP13A2c.979A= (p.Met327=)
c.964A= (p.Met322=)
n.587A=
n.118A=
c.139A= (p.Met47=)
c.902A=
c.118A= (p.Met40=)
c.976A= (p.Met326=)
c.952A= (p.Met318=)
c.961A= (p.Met321=)
c.937A= (p.Met313=)
c.949A= (p.Met317=)
1g.17000072C>ACA416094666ATP13A2c.978G>T (p.Leu326=)
c.963G>T (p.Leu321=)
n.586G>T
n.117G>T
c.138G>T (p.Leu46=)
c.901G>T
c.117G>T (p.Leu39=)
c.975G>T (p.Leu325=)
c.951G>T (p.Leu317=)
c.960G>T (p.Leu320=)
c.936G>T (p.Leu312=)
c.948G>T (p.Leu316=)
1g.17000072C=CA1156038383ATP13A2c.978G= (p.Leu326=)
c.963G= (p.Leu321=)
n.586G=
n.117G=
c.138G= (p.Leu46=)
c.901G=
c.117G= (p.Leu39=)
c.975G= (p.Leu325=)
c.951G= (p.Leu317=)
c.960G= (p.Leu320=)
c.936G= (p.Leu312=)
c.948G= (p.Leu316=)
1g.17000072C>GCA416094667ATP13A2c.978G>C (p.Leu326=)
c.963G>C (p.Leu321=)
n.586G>C
n.117G>C
c.138G>C (p.Leu46=)
c.901G>C
c.117G>C (p.Leu39=)
c.975G>C (p.Leu325=)
c.951G>C (p.Leu317=)
c.960G>C (p.Leu320=)
c.936G>C (p.Leu312=)
c.948G>C (p.Leu316=)
1g.17000072C>TCA18641670ATP13A2c.978G>A (p.Leu326=)
c.963G>A (p.Leu321=)
n.586G>A
n.117G>A
c.138G>A (p.Leu46=)
c.901G>A
c.117G>A (p.Leu39=)
c.975G>A (p.Leu325=)
c.951G>A (p.Leu317=)
c.960G>A (p.Leu320=)
c.936G>A (p.Leu312=)
c.948G>A (p.Leu316=)
 dbSNP
1g.17000073A>CCA338256820ATP13A2c.977T>G (p.Leu326Arg)
c.962T>G (p.Leu321Arg)
n.585T>G
n.116T>G
c.137T>G (p.Leu46Arg)
c.900T>G
c.116T>G (p.Leu39Arg)
c.974T>G (p.Leu325Arg)
c.950T>G (p.Leu317Arg)
c.959T>G (p.Leu320Arg)
c.935T>G (p.Leu312Arg)
c.947T>G (p.Leu316Arg)
1g.17000073A>GCA338256813ATP13A2c.977T>C (p.Leu326Pro)
c.962T>C (p.Leu321Pro)
n.585T>C
n.116T>C
c.137T>C (p.Leu46Pro)
c.900T>C
c.116T>C (p.Leu39Pro)
c.974T>C (p.Leu325Pro)
c.950T>C (p.Leu317Pro)
c.959T>C (p.Leu320Pro)
c.935T>C (p.Leu312Pro)
c.947T>C (p.Leu316Pro)
1g.17000073A>TCA338256817ATP13A2c.977T>A (p.Leu326Gln)
c.962T>A (p.Leu321Gln)
n.585T>A
n.116T>A
c.137T>A (p.Leu46Gln)
c.900T>A
c.116T>A (p.Leu39Gln)
c.974T>A (p.Leu325Gln)
c.950T>A (p.Leu317Gln)
c.959T>A (p.Leu320Gln)
c.935T>A (p.Leu312Gln)
c.947T>A (p.Leu316Gln)
1g.17000074G>ACA416094668ATP13A2c.976C>T (p.Leu326=)
c.961C>T (p.Leu321=)
n.584C>T
n.115C>T
c.136C>T (p.Leu46=)
c.899C>T
c.115C>T (p.Leu39=)
c.973C>T (p.Leu325=)
c.949C>T (p.Leu317=)
c.958C>T (p.Leu320=)
c.934C>T (p.Leu312=)
c.946C>T (p.Leu316=)
 gnomAD v4
1g.17000074G>CCA338256838ATP13A2c.976C>G (p.Leu326Val)
c.961C>G (p.Leu321Val)
n.584C>G
n.115C>G
c.136C>G (p.Leu46Val)
c.899C>G
c.115C>G (p.Leu39Val)
c.973C>G (p.Leu325Val)
c.949C>G (p.Leu317Val)
c.958C>G (p.Leu320Val)
c.934C>G (p.Leu312Val)
c.946C>G (p.Leu316Val)
1g.17000074G=CA1156038389ATP13A2c.976C= (p.Leu326=)
c.961C= (p.Leu321=)
n.584C=
n.115C=
c.136C= (p.Leu46=)
c.899C=
c.115C= (p.Leu39=)
c.973C= (p.Leu325=)
c.949C= (p.Leu317=)
c.958C= (p.Leu320=)
c.934C= (p.Leu312=)
c.946C= (p.Leu316=)
1g.17000074G>TCA637408ATP13A2c.976C>A (p.Leu326Met)
c.961C>A (p.Leu321Met)
n.584C>A
n.115C>A
c.136C>A (p.Leu46Met)
c.899C>A
c.115C>A (p.Leu39Met)
c.973C>A (p.Leu325Met)
c.949C>A (p.Leu317Met)
c.958C>A (p.Leu320Met)
c.934C>A (p.Leu312Met)
c.946C>A (p.Leu316Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000075C>ACA416094669ATP13A2c.975G>T (p.Gly325=)
c.960G>T (p.Gly320=)
n.583G>T
n.114G>T
c.135G>T (p.Gly45=)
c.898G>T
c.114G>T (p.Gly38=)
c.972G>T (p.Gly324=)
c.948G>T (p.Gly316=)
c.957G>T (p.Gly319=)
c.933G>T (p.Gly311=)
c.945G>T (p.Gly315=)
1g.17000075C=CA1156038397ATP13A2c.975G= (p.Gly325=)
c.960G= (p.Gly320=)
n.583G=
n.114G=
c.135G= (p.Gly45=)
c.898G=
c.114G= (p.Gly38=)
c.972G= (p.Gly324=)
c.948G= (p.Gly316=)
c.957G= (p.Gly319=)
c.933G= (p.Gly311=)
c.945G= (p.Gly315=)
1g.17000075C>GCA416094671ATP13A2c.975G>C (p.Gly325=)
c.960G>C (p.Gly320=)
n.583G>C
n.114G>C
c.135G>C (p.Gly45=)
c.898G>C
c.114G>C (p.Gly38=)
c.972G>C (p.Gly324=)
c.948G>C (p.Gly316=)
c.957G>C (p.Gly319=)
c.933G>C (p.Gly311=)
c.945G>C (p.Gly315=)
1g.17000075C>TCA18641700ATP13A2c.975G>A (p.Gly325=)
c.960G>A (p.Gly320=)
n.583G>A
n.114G>A
c.135G>A (p.Gly45=)
c.898G>A
c.114G>A (p.Gly38=)
c.972G>A (p.Gly324=)
c.948G>A (p.Gly316=)
c.957G>A (p.Gly319=)
c.933G>A (p.Gly311=)
c.945G>A (p.Gly315=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.17000077delCA2574235113ATP13A2c.975del (p.Leu326Ter)
c.960del (p.Leu321Ter)
n.583del
n.114del
c.135del (p.Leu46Ter)
c.898del
c.114del (p.Leu39Ter)
c.972del (p.Leu325Ter)
c.948del (p.Leu317Ter)
c.957del (p.Leu320Ter)
c.933del (p.Leu312Ter)
c.945del (p.Leu316Ter)
1g.17000076C>ACA338256842ATP13A2c.974G>T (p.Gly325Val)
c.959G>T (p.Gly320Val)
n.582G>T
n.113G>T
c.134G>T (p.Gly45Val)
c.897G>T
c.113G>T (p.Gly38Val)
c.971G>T (p.Gly324Val)
c.947G>T (p.Gly316Val)
c.956G>T (p.Gly319Val)
c.932G>T (p.Gly311Val)
c.944G>T (p.Gly315Val)
1g.17000076C=CA1156038404ATP13A2c.974G= (p.Gly325=)
c.959G= (p.Gly320=)
n.582G=
n.113G=
c.134G= (p.Gly45=)
c.897G=
c.113G= (p.Gly38=)
c.971G= (p.Gly324=)
c.947G= (p.Gly316=)
c.956G= (p.Gly319=)
c.932G= (p.Gly311=)
c.944G= (p.Gly315=)
1g.17000076C>GCA338256845ATP13A2c.974G>C (p.Gly325Ala)
c.959G>C (p.Gly320Ala)
n.582G>C
n.113G>C
c.134G>C (p.Gly45Ala)
c.897G>C
c.113G>C (p.Gly38Ala)
c.971G>C (p.Gly324Ala)
c.947G>C (p.Gly316Ala)
c.956G>C (p.Gly319Ala)
c.932G>C (p.Gly311Ala)
c.944G>C (p.Gly315Ala)
1g.17000076C>TCA338256848ATP13A2c.974G>A (p.Gly325Glu)
c.959G>A (p.Gly320Glu)
n.582G>A
n.113G>A
c.134G>A (p.Gly45Glu)
c.897G>A
c.113G>A (p.Gly38Glu)
c.971G>A (p.Gly324Glu)
c.947G>A (p.Gly316Glu)
c.956G>A (p.Gly319Glu)
c.932G>A (p.Gly311Glu)
c.944G>A (p.Gly315Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.17000077C>ACA338256852ATP13A2c.973G>T (p.Gly325Trp)
c.958G>T (p.Gly320Trp)
n.581G>T
n.112G>T
c.133G>T (p.Gly45Trp)
c.896G>T
c.112G>T (p.Gly38Trp)
c.970G>T (p.Gly324Trp)
c.946G>T (p.Gly316Trp)
c.955G>T (p.Gly319Trp)
c.931G>T (p.Gly311Trp)
c.943G>T (p.Gly315Trp)
 COSMIC COSMIC
1g.17000077C>GCA338256858ATP13A2c.973G>C (p.Gly325Arg)
c.958G>C (p.Gly320Arg)
n.581G>C
n.112G>C
c.133G>C (p.Gly45Arg)
c.896G>C
c.112G>C (p.Gly38Arg)
c.970G>C (p.Gly324Arg)
c.946G>C (p.Gly316Arg)
c.955G>C (p.Gly319Arg)
c.931G>C (p.Gly311Arg)
c.943G>C (p.Gly315Arg)
1g.17000077C>TCA338256855ATP13A2c.973G>A (p.Gly325Arg)
c.958G>A (p.Gly320Arg)
n.581G>A
n.112G>A
c.133G>A (p.Gly45Arg)
c.896G>A
c.112G>A (p.Gly38Arg)
c.970G>A (p.Gly324Arg)
c.946G>A (p.Gly316Arg)
c.955G>A (p.Gly319Arg)
c.931G>A (p.Gly311Arg)
c.943G>A (p.Gly315Arg)
 gnomAD v4
1g.17000078A=CA1156038420ATP13A2c.972T= (p.Gly324=)
c.957T= (p.Gly319=)
n.580T=
n.111T=
c.132T= (p.Gly44=)
c.895T=
c.111T= (p.Gly37=)
c.969T= (p.Gly323=)
c.945T= (p.Gly315=)
c.954T= (p.Gly318=)
c.930T= (p.Gly310=)
c.942T= (p.Gly314=)
1g.17000078A>CCA416094681ATP13A2c.972T>G (p.Gly324=)
c.957T>G (p.Gly319=)
n.580T>G
n.111T>G
c.132T>G (p.Gly44=)
c.895T>G
c.111T>G (p.Gly37=)
c.969T>G (p.Gly323=)
c.945T>G (p.Gly315=)
c.954T>G (p.Gly318=)
c.930T>G (p.Gly310=)
c.942T>G (p.Gly314=)
 dbSNP
1g.17000078A>GCA416094682ATP13A2c.972T>C (p.Gly324=)
c.957T>C (p.Gly319=)
n.580T>C
n.111T>C
c.132T>C (p.Gly44=)
c.895T>C
c.111T>C (p.Gly37=)
c.969T>C (p.Gly323=)
c.945T>C (p.Gly315=)
c.954T>C (p.Gly318=)
c.930T>C (p.Gly310=)
c.942T>C (p.Gly314=)
1g.17000078A>TCA416094685ATP13A2c.972T>A (p.Gly324=)
c.957T>A (p.Gly319=)
n.580T>A
n.111T>A
c.132T>A (p.Gly44=)
c.895T>A
c.111T>A (p.Gly37=)
c.969T>A (p.Gly323=)
c.945T>A (p.Gly315=)
c.954T>A (p.Gly318=)
c.930T>A (p.Gly310=)
c.942T>A (p.Gly314=)
1g.17000079C>ACA338256864ATP13A2c.971G>T (p.Gly324Val)
c.956G>T (p.Gly319Val)
n.579G>T
n.110G>T
c.131G>T (p.Gly44Val)
c.894G>T
c.110G>T (p.Gly37Val)
c.968G>T (p.Gly323Val)
c.944G>T (p.Gly315Val)
c.953G>T (p.Gly318Val)
c.929G>T (p.Gly310Val)
c.941G>T (p.Gly314Val)
1g.17000079C=CA1156038427ATP13A2c.971G= (p.Gly324=)
c.956G= (p.Gly319=)
n.579G=
n.110G=
c.131G= (p.Gly44=)
c.894G=
c.110G= (p.Gly37=)
c.968G= (p.Gly323=)
c.944G= (p.Gly315=)
c.953G= (p.Gly318=)
c.929G= (p.Gly310=)
c.941G= (p.Gly314=)
1g.17000079C>GCA338256872ATP13A2c.971G>C (p.Gly324Ala)
c.956G>C (p.Gly319Ala)
n.579G>C
n.110G>C
c.131G>C (p.Gly44Ala)
c.894G>C
c.110G>C (p.Gly37Ala)
c.968G>C (p.Gly323Ala)
c.944G>C (p.Gly315Ala)
c.953G>C (p.Gly318Ala)
c.929G>C (p.Gly310Ala)
c.941G>C (p.Gly314Ala)
1g.17000079C>TCA338256873ATP13A2c.971G>A (p.Gly324Asp)
c.956G>A (p.Gly319Asp)
n.579G>A
n.110G>A
c.131G>A (p.Gly44Asp)
c.894G>A
c.110G>A (p.Gly37Asp)
c.968G>A (p.Gly323Asp)
c.944G>A (p.Gly315Asp)
c.953G>A (p.Gly318Asp)
c.929G>A (p.Gly310Asp)
c.941G>A (p.Gly314Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.17000080C>ACA338256875ATP13A2c.970G>T (p.Gly324Cys)
c.955G>T (p.Gly319Cys)
n.578G>T
n.109G>T
c.130G>T (p.Gly44Cys)
c.893G>T
c.109G>T (p.Gly37Cys)
c.967G>T (p.Gly323Cys)
c.943G>T (p.Gly315Cys)
c.952G>T (p.Gly318Cys)
c.928G>T (p.Gly310Cys)
c.940G>T (p.Gly314Cys)
1g.17000080C>GCA338256877ATP13A2c.970G>C (p.Gly324Arg)
c.955G>C (p.Gly319Arg)
n.578G>C
n.109G>C
c.130G>C (p.Gly44Arg)
c.893G>C
c.109G>C (p.Gly37Arg)
c.967G>C (p.Gly323Arg)
c.943G>C (p.Gly315Arg)
c.952G>C (p.Gly318Arg)
c.928G>C (p.Gly310Arg)
c.940G>C (p.Gly314Arg)
1g.17000080C>TCA338256879ATP13A2c.970G>A (p.Gly324Ser)
c.955G>A (p.Gly319Ser)
n.578G>A
n.109G>A
c.130G>A (p.Gly44Ser)
c.893G>A
c.109G>A (p.Gly37Ser)
c.967G>A (p.Gly323Ser)
c.943G>A (p.Gly315Ser)
c.952G>A (p.Gly318Ser)
c.928G>A (p.Gly310Ser)
c.940G>A (p.Gly314Ser)
 gnomAD v4
1g.17000081C>ACA338256882ATP13A2c.969G>T (p.Glu323Asp)
c.954G>T (p.Glu318Asp)
n.577G>T
n.108G>T
c.129G>T (p.Glu43Asp)
c.892G>T
c.108G>T (p.Glu36Asp)
c.966G>T (p.Glu322Asp)
c.942G>T (p.Glu314Asp)
c.951G>T (p.Glu317Asp)
c.927G>T (p.Glu309Asp)
c.939G>T (p.Glu313Asp)
1g.17000081C>GCA338256885ATP13A2c.969G>C (p.Glu323Asp)
c.954G>C (p.Glu318Asp)
n.577G>C
n.108G>C
c.129G>C (p.Glu43Asp)
c.892G>C
c.108G>C (p.Glu36Asp)
c.966G>C (p.Glu322Asp)
c.942G>C (p.Glu314Asp)
c.951G>C (p.Glu317Asp)
c.927G>C (p.Glu309Asp)
c.939G>C (p.Glu313Asp)
1g.17000081C>TCA416094690ATP13A2c.969G>A (p.Glu323=)
c.954G>A (p.Glu318=)
n.577G>A
n.108G>A
c.129G>A (p.Glu43=)
c.892G>A
c.108G>A (p.Glu36=)
c.966G>A (p.Glu322=)
c.942G>A (p.Glu314=)
c.951G>A (p.Glu317=)
c.927G>A (p.Glu309=)
c.939G>A (p.Glu313=)
1g.17000082T>ACA338256887ATP13A2c.968A>T (p.Glu323Val)
c.953A>T (p.Glu318Val)
n.576A>T
n.107A>T
c.128A>T (p.Glu43Val)
c.891A>T
c.107A>T (p.Glu36Val)
c.965A>T (p.Glu322Val)
c.941A>T (p.Glu314Val)
c.950A>T (p.Glu317Val)
c.926A>T (p.Glu309Val)
c.938A>T (p.Glu313Val)
1g.17000082T>CCA18641716ATP13A2c.968A>G (p.Glu323Gly)
c.953A>G (p.Glu318Gly)
n.576A>G
n.107A>G
c.128A>G (p.Glu43Gly)
c.891A>G
c.107A>G (p.Glu36Gly)
c.965A>G (p.Glu322Gly)
c.941A>G (p.Glu314Gly)
c.950A>G (p.Glu317Gly)
c.926A>G (p.Glu309Gly)
c.938A>G (p.Glu313Gly)
 dbSNP
1g.17000082T>GCA338256895ATP13A2c.968A>C (p.Glu323Ala)
c.953A>C (p.Glu318Ala)
n.576A>C
n.107A>C
c.128A>C (p.Glu43Ala)
c.891A>C
c.107A>C (p.Glu36Ala)
c.965A>C (p.Glu322Ala)
c.941A>C (p.Glu314Ala)
c.950A>C (p.Glu317Ala)
c.926A>C (p.Glu309Ala)
c.938A>C (p.Glu313Ala)
1g.17000082T=CA1156038435ATP13A2c.968A= (p.Glu323=)
c.953A= (p.Glu318=)
n.576A=
n.107A=
c.128A= (p.Glu43=)
c.891A=
c.107A= (p.Glu36=)
c.965A= (p.Glu322=)
c.941A= (p.Glu314=)
c.950A= (p.Glu317=)
c.926A= (p.Glu309=)
c.938A= (p.Glu313=)
1g.17000083C>ACA338256898ATP13A2c.967G>T (p.Glu323Ter)
c.952G>T (p.Glu318Ter)
n.575G>T
n.106G>T
c.127G>T (p.Glu43Ter)
c.890G>T
c.106G>T (p.Glu36Ter)
c.964G>T (p.Glu322Ter)
c.940G>T (p.Glu314Ter)
c.949G>T (p.Glu317Ter)
c.925G>T (p.Glu309Ter)
c.937G>T (p.Glu313Ter)
1g.17000083C>GCA338256906ATP13A2c.967G>C (p.Glu323Gln)
c.952G>C (p.Glu318Gln)
n.575G>C
n.106G>C
c.127G>C (p.Glu43Gln)
c.890G>C
c.106G>C (p.Glu36Gln)
c.964G>C (p.Glu322Gln)
c.940G>C (p.Glu314Gln)
c.949G>C (p.Glu317Gln)
c.925G>C (p.Glu309Gln)
c.937G>C (p.Glu313Gln)
1g.17000083C>TCA338256900ATP13A2c.967G>A (p.Glu323Lys)
c.952G>A (p.Glu318Lys)
n.575G>A
n.106G>A
c.127G>A (p.Glu43Lys)
c.890G>A
c.106G>A (p.Glu36Lys)
c.964G>A (p.Glu322Lys)
c.940G>A (p.Glu314Lys)
c.949G>A (p.Glu317Lys)
c.925G>A (p.Glu309Lys)
c.937G>A (p.Glu313Lys)
1g.17000084C>ACA338256908ATP13A2c.966G>T (p.Gln322His)
c.951G>T (p.Gln317His)
n.574G>T
n.105G>T
c.126G>T (p.Gln42His)
c.889G>T
c.105G>T (p.Gln35His)
c.963G>T (p.Gln321His)
c.939G>T (p.Gln313His)
c.948G>T (p.Gln316His)
c.924G>T (p.Gln308His)
c.936G>T (p.Gln312His)
1g.17000084C=CA1156038443ATP13A2c.966G= (p.Gln322=)
c.951G= (p.Gln317=)
n.574G=
n.105G=
c.126G= (p.Gln42=)
c.889G=
c.105G= (p.Gln35=)
c.963G= (p.Gln321=)
c.939G= (p.Gln313=)
c.948G= (p.Gln316=)
c.924G= (p.Gln308=)
c.936G= (p.Gln312=)
1g.17000084C>GCA338256909ATP13A2c.966G>C (p.Gln322His)
c.951G>C (p.Gln317His)
n.574G>C
n.105G>C
c.126G>C (p.Gln42His)
c.889G>C
c.105G>C (p.Gln35His)
c.963G>C (p.Gln321His)
c.939G>C (p.Gln313His)
c.948G>C (p.Gln316His)
c.924G>C (p.Gln308His)
c.936G>C (p.Gln312His)
1g.17000084C>TCA637409ATP13A2c.966G>A (p.Gln322=)
c.951G>A (p.Gln317=)
n.574G>A
n.105G>A
c.126G>A (p.Gln42=)
c.889G>A
c.105G>A (p.Gln35=)
c.963G>A (p.Gln321=)
c.939G>A (p.Gln313=)
c.948G>A (p.Gln316=)
c.924G>A (p.Gln308=)
c.936G>A (p.Gln312=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000085delCA2580060644ATP13A2c.965del (p.Gln322ArgfsTer5)
c.950del (p.Gln317ArgfsTer5)
n.573del
n.104del
c.125del (p.Gln42ArgfsTer5)
c.888del
c.104del (p.Gln35ArgfsTer5)
c.962del (p.Gln321ArgfsTer5)
c.938del (p.Gln313ArgfsTer5)
c.947del (p.Gln316ArgfsTer5)
c.923del (p.Gln308ArgfsTer5)
c.935del (p.Gln312ArgfsTer5)
 ClinVar
1g.17000085T>ACA338256912ATP13A2c.965A>T (p.Gln322Leu)
c.950A>T (p.Gln317Leu)
n.573A>T
n.104A>T
c.125A>T (p.Gln42Leu)
c.888A>T
c.104A>T (p.Gln35Leu)
c.962A>T (p.Gln321Leu)
c.938A>T (p.Gln313Leu)
c.947A>T (p.Gln316Leu)
c.923A>T (p.Gln308Leu)
c.935A>T (p.Gln312Leu)
1g.17000085T>CCA18641722ATP13A2c.965A>G (p.Gln322Arg)
c.950A>G (p.Gln317Arg)
n.573A>G
n.104A>G
c.125A>G (p.Gln42Arg)
c.888A>G
c.104A>G (p.Gln35Arg)
c.962A>G (p.Gln321Arg)
c.938A>G (p.Gln313Arg)
c.947A>G (p.Gln316Arg)
c.923A>G (p.Gln308Arg)
c.935A>G (p.Gln312Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.17000085T>GCA338256919ATP13A2c.965A>C (p.Gln322Pro)
c.950A>C (p.Gln317Pro)
n.573A>C
n.104A>C
c.125A>C (p.Gln42Pro)
c.888A>C
c.104A>C (p.Gln35Pro)
c.962A>C (p.Gln321Pro)
c.938A>C (p.Gln313Pro)
c.947A>C (p.Gln316Pro)
c.923A>C (p.Gln308Pro)
c.935A>C (p.Gln312Pro)
1g.17000085T=CA1140474560ATP13A2c.965A= (p.Gln322=)
c.950A= (p.Gln317=)
n.573A=
n.104A=
c.125A= (p.Gln42=)
c.888A=
c.104A= (p.Gln35=)
c.962A= (p.Gln321=)
c.938A= (p.Gln313=)
c.947A= (p.Gln316=)
c.923A= (p.Gln308=)
c.935A= (p.Gln312=)
1g.17000086G>ACA338256922ATP13A2c.964C>T (p.Gln322Ter)
c.949C>T (p.Gln317Ter)
n.572C>T
n.103C>T
c.124C>T (p.Gln42Ter)
c.887C>T
c.103C>T (p.Gln35Ter)
c.961C>T (p.Gln321Ter)
c.937C>T (p.Gln313Ter)
c.946C>T (p.Gln316Ter)
c.922C>T (p.Gln308Ter)
c.934C>T (p.Gln312Ter)
1g.17000086G>CCA338256956ATP13A2c.964C>G (p.Gln322Glu)
c.949C>G (p.Gln317Glu)
n.572C>G
n.103C>G
c.124C>G (p.Gln42Glu)
c.887C>G
c.103C>G (p.Gln35Glu)
c.961C>G (p.Gln321Glu)
c.937C>G (p.Gln313Glu)
c.946C>G (p.Gln316Glu)
c.922C>G (p.Gln308Glu)
c.934C>G (p.Gln312Glu)
1g.17000086G>TCA338256959ATP13A2c.964C>A (p.Gln322Lys)
c.949C>A (p.Gln317Lys)
n.572C>A
n.103C>A
c.124C>A (p.Gln42Lys)
c.887C>A
c.103C>A (p.Gln35Lys)
c.961C>A (p.Gln321Lys)
c.937C>A (p.Gln313Lys)
c.946C>A (p.Gln316Lys)
c.922C>A (p.Gln308Lys)
c.934C>A (p.Gln312Lys)
1g.17000087G>ACA416094700ATP13A2c.963C>T (p.Pro321=)
c.948C>T (p.Pro316=)
n.571C>T
n.102C>T
c.123C>T (p.Pro41=)
c.886C>T
c.102C>T (p.Pro34=)
c.960C>T (p.Pro320=)
c.936C>T (p.Pro312=)
c.945C>T (p.Pro315=)
c.921C>T (p.Pro307=)
c.933C>T (p.Pro311=)
1g.17000087G>CCA416094699ATP13A2c.963C>G (p.Pro321=)
c.948C>G (p.Pro316=)
n.571C>G
n.102C>G
c.123C>G (p.Pro41=)
c.886C>G
c.102C>G (p.Pro34=)
c.960C>G (p.Pro320=)
c.936C>G (p.Pro312=)
c.945C>G (p.Pro315=)
c.921C>G (p.Pro307=)
c.933C>G (p.Pro311=)
1g.17000087G>TCA416094698ATP13A2c.963C>A (p.Pro321=)
c.948C>A (p.Pro316=)
n.571C>A
n.102C>A
c.123C>A (p.Pro41=)
c.886C>A
c.102C>A (p.Pro34=)
c.960C>A (p.Pro320=)
c.936C>A (p.Pro312=)
c.945C>A (p.Pro315=)
c.921C>A (p.Pro307=)
c.933C>A (p.Pro311=)
 gnomAD v4
1g.17000088G>ACA338256978ATP13A2c.962C>T (p.Pro321Leu)
c.947C>T (p.Pro316Leu)
n.570C>T
n.101C>T
c.122C>T (p.Pro41Leu)
c.885C>T
c.101C>T (p.Pro34Leu)
c.959C>T (p.Pro320Leu)
c.935C>T (p.Pro312Leu)
c.944C>T (p.Pro315Leu)
c.920C>T (p.Pro307Leu)
c.932C>T (p.Pro311Leu)
 gnomAD v4
1g.17000088G>CCA338256984ATP13A2c.962C>G (p.Pro321Arg)
c.947C>G (p.Pro316Arg)
n.570C>G
n.101C>G
c.122C>G (p.Pro41Arg)
c.885C>G
c.101C>G (p.Pro34Arg)
c.959C>G (p.Pro320Arg)
c.935C>G (p.Pro312Arg)
c.944C>G (p.Pro315Arg)
c.920C>G (p.Pro307Arg)
c.932C>G (p.Pro311Arg)
1g.17000088G>TCA338256992ATP13A2c.962C>A (p.Pro321His)
c.947C>A (p.Pro316His)
n.570C>A
n.101C>A
c.122C>A (p.Pro41His)
c.885C>A
c.101C>A (p.Pro34His)
c.959C>A (p.Pro320His)
c.935C>A (p.Pro312His)
c.944C>A (p.Pro315His)
c.920C>A (p.Pro307His)
c.932C>A (p.Pro311His)
 gnomAD v4
1g.17000088_17000091delinsGGCACA1156038450ATP13A2c.959_962delinsTGCC (p.Leu320=)
c.944_947delinsTGCC (p.Leu315=)
n.567_570delinsTGCC
n.98_101delinsTGCC
c.119_122delinsTGCC (p.Leu40=)
c.882_885delinsTGCC
c.98_101delinsTGCC (p.Leu33=)
c.956_959delinsTGCC (p.Leu319=)
c.932_935delinsTGCC (p.Leu311=)
c.941_944delinsTGCC (p.Leu314=)
c.917_920delinsTGCC (p.Leu306=)
c.929_932delinsTGCC (p.Leu310=)
1g.17000089G>ACA637410ATP13A2c.961C>T (p.Pro321Ser)
c.946C>T (p.Pro316Ser)
n.569C>T
n.100C>T
c.121C>T (p.Pro41Ser)
c.884C>T
c.100C>T (p.Pro34Ser)
c.958C>T (p.Pro320Ser)
c.934C>T (p.Pro312Ser)
c.943C>T (p.Pro315Ser)
c.919C>T (p.Pro307Ser)
c.931C>T (p.Pro311Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000089G>CCA338256997ATP13A2c.961C>G (p.Pro321Ala)
c.946C>G (p.Pro316Ala)
n.569C>G
n.100C>G
c.121C>G (p.Pro41Ala)
c.884C>G
c.100C>G (p.Pro34Ala)
c.958C>G (p.Pro320Ala)
c.934C>G (p.Pro312Ala)
c.943C>G (p.Pro315Ala)
c.919C>G (p.Pro307Ala)
c.931C>G (p.Pro311Ala)
1g.17000089G=CA1156038460ATP13A2c.961C= (p.Pro321=)
c.946C= (p.Pro316=)
n.569C=
n.100C=
c.121C= (p.Pro41=)
c.884C=
c.100C= (p.Pro34=)
c.958C= (p.Pro320=)
c.934C= (p.Pro312=)
c.943C= (p.Pro315=)
c.919C= (p.Pro307=)
c.931C= (p.Pro311=)
1g.17000089G>TCA338257005ATP13A2c.961C>A (p.Pro321Thr)
c.946C>A (p.Pro316Thr)
n.569C>A
n.100C>A
c.121C>A (p.Pro41Thr)
c.884C>A
c.100C>A (p.Pro34Thr)
c.958C>A (p.Pro320Thr)
c.934C>A (p.Pro312Thr)
c.943C>A (p.Pro315Thr)
c.919C>A (p.Pro307Thr)
c.931C>A (p.Pro311Thr)
 dbSNP gnomAD v2
1g.17000092_17000094delCA1156038457ATP13A2c.959_961del (p.Leu320del)
c.944_946del (p.Leu315del)
n.567_569del
n.98_100del
c.119_121del (p.Leu40del)
c.882_884del
c.98_100del (p.Leu33del)
c.956_958del (p.Leu319del)
c.932_934del (p.Leu311del)
c.941_943del (p.Leu314del)
c.917_919del (p.Leu306del)
c.929_931del (p.Leu310del)
 dbSNP
1g.17000090C>ACA416094708ATP13A2c.960G>T (p.Leu320=)
c.945G>T (p.Leu315=)
n.568G>T
n.99G>T
c.120G>T (p.Leu40=)
c.883G>T
c.99G>T (p.Leu33=)
c.957G>T (p.Leu319=)
c.933G>T (p.Leu311=)
c.942G>T (p.Leu314=)
c.918G>T (p.Leu306=)
c.930G>T (p.Leu310=)
1g.17000090C>GCA416094709ATP13A2c.960G>C (p.Leu320=)
c.945G>C (p.Leu315=)
n.568G>C
n.99G>C
c.120G>C (p.Leu40=)
c.883G>C
c.99G>C (p.Leu33=)
c.957G>C (p.Leu319=)
c.933G>C (p.Leu311=)
c.942G>C (p.Leu314=)
c.918G>C (p.Leu306=)
c.930G>C (p.Leu310=)
1g.17000090C>TCA416094710ATP13A2c.960G>A (p.Leu320=)
c.945G>A (p.Leu315=)
n.568G>A
n.99G>A
c.120G>A (p.Leu40=)
c.883G>A
c.99G>A (p.Leu33=)
c.957G>A (p.Leu319=)
c.933G>A (p.Leu311=)
c.942G>A (p.Leu314=)
c.918G>A (p.Leu306=)
c.930G>A (p.Leu310=)
1g.17000091A>CCA338257020ATP13A2c.959T>G (p.Leu320Arg)
c.944T>G (p.Leu315Arg)
n.567T>G
n.98T>G
c.119T>G (p.Leu40Arg)
c.882T>G
c.98T>G (p.Leu33Arg)
c.956T>G (p.Leu319Arg)
c.932T>G (p.Leu311Arg)
c.941T>G (p.Leu314Arg)
c.917T>G (p.Leu306Arg)
c.929T>G (p.Leu310Arg)
1g.17000091A>GCA338257024ATP13A2c.959T>C (p.Leu320Pro)
c.944T>C (p.Leu315Pro)
n.567T>C
n.98T>C
c.119T>C (p.Leu40Pro)
c.882T>C
c.98T>C (p.Leu33Pro)
c.956T>C (p.Leu319Pro)
c.932T>C (p.Leu311Pro)
c.941T>C (p.Leu314Pro)
c.917T>C (p.Leu306Pro)
c.929T>C (p.Leu310Pro)
1g.17000091A>TCA338257026ATP13A2c.959T>A (p.Leu320Gln)
c.944T>A (p.Leu315Gln)
n.567T>A
n.98T>A
c.119T>A (p.Leu40Gln)
c.882T>A
c.98T>A (p.Leu33Gln)
c.956T>A (p.Leu319Gln)
c.932T>A (p.Leu311Gln)
c.941T>A (p.Leu314Gln)
c.917T>A (p.Leu306Gln)
c.929T>A (p.Leu310Gln)
1g.17000092G>ACA416094712ATP13A2c.958C>T (p.Leu320=)
c.943C>T (p.Leu315=)
n.566C>T
n.97C>T
c.118C>T (p.Leu40=)
c.881C>T
c.97C>T (p.Leu33=)
c.955C>T (p.Leu319=)
c.931C>T (p.Leu311=)
c.940C>T (p.Leu314=)
c.916C>T (p.Leu306=)
c.928C>T (p.Leu310=)
1g.17000092G>CCA338257028ATP13A2c.958C>G (p.Leu320Val)
c.943C>G (p.Leu315Val)
n.566C>G
n.97C>G
c.118C>G (p.Leu40Val)
c.881C>G
c.97C>G (p.Leu33Val)
c.955C>G (p.Leu319Val)
c.931C>G (p.Leu311Val)
c.940C>G (p.Leu314Val)
c.916C>G (p.Leu306Val)
c.928C>G (p.Leu310Val)
1g.17000092G>TCA338257033ATP13A2c.958C>A (p.Leu320Met)
c.943C>A (p.Leu315Met)
n.566C>A
n.97C>A
c.118C>A (p.Leu40Met)
c.881C>A
c.97C>A (p.Leu33Met)
c.955C>A (p.Leu319Met)
c.931C>A (p.Leu311Met)
c.940C>A (p.Leu314Met)
c.916C>A (p.Leu306Met)
c.928C>A (p.Leu310Met)
1g.17000093C>ACA416094717ATP13A2c.957G>T (p.Val319=)
c.942G>T (p.Val314=)
n.565G>T
n.96G>T
c.117G>T (p.Val39=)
c.880G>T
c.96G>T (p.Val32=)
c.954G>T (p.Val318=)
c.930G>T (p.Val310=)
c.939G>T (p.Val313=)
c.915G>T (p.Val305=)
c.927G>T (p.Val309=)
1g.17000093C>GCA416094718ATP13A2c.957G>C (p.Val319=)
c.942G>C (p.Val314=)
n.565G>C
n.96G>C
c.117G>C (p.Val39=)
c.880G>C
c.96G>C (p.Val32=)
c.954G>C (p.Val318=)
c.930G>C (p.Val310=)
c.939G>C (p.Val313=)
c.915G>C (p.Val305=)
c.927G>C (p.Val309=)
1g.17000093C>TCA416094719ATP13A2c.957G>A (p.Val319=)
c.942G>A (p.Val314=)
n.565G>A
n.96G>A
c.117G>A (p.Val39=)
c.880G>A
c.96G>A (p.Val32=)
c.954G>A (p.Val318=)
c.930G>A (p.Val310=)
c.939G>A (p.Val313=)
c.915G>A (p.Val305=)
c.927G>A (p.Val309=)
1g.17000094A>CCA338257042ATP13A2c.956T>G (p.Val319Gly)
c.941T>G (p.Val314Gly)
n.564T>G
n.95T>G
c.116T>G (p.Val39Gly)
c.879T>G
c.95T>G (p.Val32Gly)
c.953T>G (p.Val318Gly)
c.929T>G (p.Val310Gly)
c.938T>G (p.Val313Gly)
c.914T>G (p.Val305Gly)
c.926T>G (p.Val309Gly)
1g.17000094A>GCA338257044ATP13A2c.956T>C (p.Val319Ala)
c.941T>C (p.Val314Ala)
n.564T>C
n.95T>C
c.116T>C (p.Val39Ala)
c.879T>C
c.95T>C (p.Val32Ala)
c.953T>C (p.Val318Ala)
c.929T>C (p.Val310Ala)
c.938T>C (p.Val313Ala)
c.914T>C (p.Val305Ala)
c.926T>C (p.Val309Ala)
1g.17000094A>TCA338257045ATP13A2c.956T>A (p.Val319Glu)
c.941T>A (p.Val314Glu)
n.564T>A
n.95T>A
c.116T>A (p.Val39Glu)
c.879T>A
c.95T>A (p.Val32Glu)
c.953T>A (p.Val318Glu)
c.929T>A (p.Val310Glu)
c.938T>A (p.Val313Glu)
c.914T>A (p.Val305Glu)
c.926T>A (p.Val309Glu)
1g.17000095C>ACA338257046ATP13A2c.955G>T (p.Val319Leu)
c.940G>T (p.Val314Leu)
n.563G>T
n.94G>T
c.115G>T (p.Val39Leu)
c.878G>T
c.94G>T (p.Val32Leu)
c.952G>T (p.Val318Leu)
c.928G>T (p.Val310Leu)
c.937G>T (p.Val313Leu)
c.913G>T (p.Val305Leu)
c.925G>T (p.Val309Leu)
 dbSNP
1g.17000095C=CA1156038468ATP13A2c.955G= (p.Val319=)
c.940G= (p.Val314=)
n.563G=
n.94G=
c.115G= (p.Val39=)
c.878G=
c.94G= (p.Val32=)
c.952G= (p.Val318=)
c.928G= (p.Val310=)
c.937G= (p.Val313=)
c.913G= (p.Val305=)
c.925G= (p.Val309=)
1g.17000095C>GCA338257049ATP13A2c.955G>C (p.Val319Leu)
c.940G>C (p.Val314Leu)
n.563G>C
n.94G>C
c.115G>C (p.Val39Leu)
c.878G>C
c.94G>C (p.Val32Leu)
c.952G>C (p.Val318Leu)
c.928G>C (p.Val310Leu)
c.937G>C (p.Val313Leu)
c.913G>C (p.Val305Leu)
c.925G>C (p.Val309Leu)
 ClinVar dbSNP
1g.17000095C>TCA338257050ATP13A2c.955G>A (p.Val319Met)
c.940G>A (p.Val314Met)
n.563G>A
n.94G>A
c.115G>A (p.Val39Met)
c.878G>A
c.94G>A (p.Val32Met)
c.952G>A (p.Val318Met)
c.928G>A (p.Val310Met)
c.937G>A (p.Val313Met)
c.913G>A (p.Val305Met)
c.925G>A (p.Val309Met)
 dbSNP gnomAD v4
1g.17000096C>ACA416094723ATP13A2c.954G>T (p.Leu318=)
c.939G>T (p.Leu313=)
n.562G>T
n.93G>T
c.114G>T (p.Leu38=)
c.877G>T
c.93G>T (p.Leu31=)
c.951G>T (p.Leu317=)
c.927G>T (p.Leu309=)
c.936G>T (p.Leu312=)
c.912G>T (p.Leu304=)
c.924G>T (p.Leu308=)
1g.17000096C>GCA416094725ATP13A2c.954G>C (p.Leu318=)
c.939G>C (p.Leu313=)
n.562G>C
n.93G>C
c.114G>C (p.Leu38=)
c.877G>C
c.93G>C (p.Leu31=)
c.951G>C (p.Leu317=)
c.927G>C (p.Leu309=)
c.936G>C (p.Leu312=)
c.912G>C (p.Leu304=)
c.924G>C (p.Leu308=)
1g.17000096C>TCA416094724ATP13A2c.954G>A (p.Leu318=)
c.939G>A (p.Leu313=)
n.562G>A
n.93G>A
c.114G>A (p.Leu38=)
c.877G>A
c.93G>A (p.Leu31=)
c.951G>A (p.Leu317=)
c.927G>A (p.Leu309=)
c.936G>A (p.Leu312=)
c.912G>A (p.Leu304=)
c.924G>A (p.Leu308=)
1g.17000097A>CCA338257060ATP13A2c.953T>G (p.Leu318Arg)
c.938T>G (p.Leu313Arg)
n.561T>G
n.92T>G
c.113T>G (p.Leu38Arg)
c.876T>G
c.92T>G (p.Leu31Arg)
c.950T>G (p.Leu317Arg)
c.926T>G (p.Leu309Arg)
c.935T>G (p.Leu312Arg)
c.911T>G (p.Leu304Arg)
c.923T>G (p.Leu308Arg)
1g.17000097A>GCA338257071ATP13A2c.953T>C (p.Leu318Pro)
c.938T>C (p.Leu313Pro)
n.561T>C
n.92T>C
c.113T>C (p.Leu38Pro)
c.876T>C
c.92T>C (p.Leu31Pro)
c.950T>C (p.Leu317Pro)
c.926T>C (p.Leu309Pro)
c.935T>C (p.Leu312Pro)
c.911T>C (p.Leu304Pro)
c.923T>C (p.Leu308Pro)
1g.17000097A>TCA338257057ATP13A2c.953T>A (p.Leu318Gln)
c.938T>A (p.Leu313Gln)
n.561T>A
n.92T>A
c.113T>A (p.Leu38Gln)
c.876T>A
c.92T>A (p.Leu31Gln)
c.950T>A (p.Leu317Gln)
c.926T>A (p.Leu309Gln)
c.935T>A (p.Leu312Gln)
c.911T>A (p.Leu304Gln)
c.923T>A (p.Leu308Gln)
1g.17000098G>ACA416094730ATP13A2c.952C>T (p.Leu318=)
c.937C>T (p.Leu313=)
n.560C>T
n.91C>T
c.112C>T (p.Leu38=)
c.875C>T
c.91C>T (p.Leu31=)
c.949C>T (p.Leu317=)
c.925C>T (p.Leu309=)
c.934C>T (p.Leu312=)
c.910C>T (p.Leu304=)
c.922C>T (p.Leu308=)
1g.17000098G>CCA338257073ATP13A2c.952C>G (p.Leu318Val)
c.937C>G (p.Leu313Val)
n.560C>G
n.91C>G
c.112C>G (p.Leu38Val)
c.875C>G
c.91C>G (p.Leu31Val)
c.949C>G (p.Leu317Val)
c.925C>G (p.Leu309Val)
c.934C>G (p.Leu312Val)
c.910C>G (p.Leu304Val)
c.922C>G (p.Leu308Val)
1g.17000098G>TCA338257074ATP13A2c.952C>A (p.Leu318Met)
c.937C>A (p.Leu313Met)
n.560C>A
n.91C>A
c.112C>A (p.Leu38Met)
c.875C>A
c.91C>A (p.Leu31Met)
c.949C>A (p.Leu317Met)
c.925C>A (p.Leu309Met)
c.934C>A (p.Leu312Met)
c.910C>A (p.Leu304Met)
c.922C>A (p.Leu308Met)
1g.17000099G>ACA637411ATP13A2c.951C>T (p.Cys317=)
c.936C>T (p.Cys312=)
n.559C>T
n.90C>T
c.111C>T (p.Cys37=)
c.874C>T
c.90C>T (p.Cys30=)
c.948C>T (p.Cys316=)
c.924C>T (p.Cys308=)
c.933C>T (p.Cys311=)
c.909C>T (p.Cys303=)
c.921C>T (p.Cys307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.17000099G>CCA338257077ATP13A2c.951C>G (p.Cys317Trp)
c.936C>G (p.Cys312Trp)
n.559C>G
n.90C>G
c.111C>G (p.Cys37Trp)
c.874C>G
c.90C>G (p.Cys30Trp)
c.948C>G (p.Cys316Trp)
c.924C>G (p.Cys308Trp)
c.933C>G (p.Cys311Trp)
c.909C>G (p.Cys303Trp)
c.921C>G (p.Cys307Trp)
1g.17000099G=CA1142236806ATP13A2c.951C= (p.Cys317=)
c.936C= (p.Cys312=)
n.559C=
n.90C=
c.111C= (p.Cys37=)
c.874C=
c.90C= (p.Cys30=)
c.948C= (p.Cys316=)
c.924C= (p.Cys308=)
c.933C= (p.Cys311=)
c.909C= (p.Cys303=)
c.921C= (p.Cys307=)
1g.17000099G>TCA338257080ATP13A2c.951C>A (p.Cys317Ter)
c.936C>A (p.Cys312Ter)
n.559C>A
n.90C>A
c.111C>A (p.Cys37Ter)
c.874C>A
c.90C>A (p.Cys30Ter)
c.948C>A (p.Cys316Ter)
c.924C>A (p.Cys308Ter)
c.933C>A (p.Cys311Ter)
c.909C>A (p.Cys303Ter)
c.921C>A (p.Cys307Ter)
1g.17000100C>ACA338257082ATP13A2c.950G>T (p.Cys317Phe)
c.935G>T (p.Cys312Phe)
n.558G>T
n.89G>T
c.110G>T (p.Cys37Phe)
c.873G>T
c.89G>T (p.Cys30Phe)
c.947G>T (p.Cys316Phe)
c.923G>T (p.Cys308Phe)
c.932G>T (p.Cys311Phe)
c.908G>T (p.Cys303Phe)
c.920G>T (p.Cys307Phe)
1g.17000100C=CA1156038476ATP13A2c.950G= (p.Cys317=)
c.935G= (p.Cys312=)
n.558G=
n.89G=
c.110G= (p.Cys37=)
c.873G=
c.89G= (p.Cys30=)
c.947G= (p.Cys316=)
c.923G= (p.Cys308=)
c.932G= (p.Cys311=)
c.908G= (p.Cys303=)
c.920G= (p.Cys307=)
1g.17000100C>GCA637412ATP13A2c.950G>C (p.Cys317Ser)
c.935G>C (p.Cys312Ser)
n.558G>C
n.89G>C
c.110G>C (p.Cys37Ser)
c.873G>C
c.89G>C (p.Cys30Ser)
c.947G>C (p.Cys316Ser)
c.923G>C (p.Cys308Ser)
c.932G>C (p.Cys311Ser)
c.908G>C (p.Cys303Ser)
c.920G>C (p.Cys307Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.17000100C>TCA338257098ATP13A2c.950G>A (p.Cys317Tyr)
c.935G>A (p.Cys312Tyr)
n.558G>A
n.89G>A
c.110G>A (p.Cys37Tyr)
c.873G>A
c.89G>A (p.Cys30Tyr)
c.947G>A (p.Cys316Tyr)
c.923G>A (p.Cys308Tyr)
c.932G>A (p.Cys311Tyr)
c.908G>A (p.Cys303Tyr)
c.920G>A (p.Cys307Tyr)
1g.17000101A>CCA338257099ATP13A2c.949T>G (p.Cys317Gly)
c.934T>G (p.Cys312Gly)
n.557T>G
n.88T>G
c.109T>G (p.Cys37Gly)
c.872T>G
c.88T>G (p.Cys30Gly)
c.946T>G (p.Cys316Gly)
c.922T>G (p.Cys308Gly)
c.931T>G (p.Cys311Gly)
c.907T>G (p.Cys303Gly)
c.919T>G (p.Cys307Gly)
1g.17000101A>GCA338257100ATP13A2c.949T>C (p.Cys317Arg)
c.934T>C (p.Cys312Arg)
n.557T>C
n.88T>C
c.109T>C (p.Cys37Arg)
c.872T>C
c.88T>C (p.Cys30Arg)
c.946T>C (p.Cys316Arg)
c.922T>C (p.Cys308Arg)
c.931T>C (p.Cys311Arg)
c.907T>C (p.Cys303Arg)
c.919T>C (p.Cys307Arg)
1g.17000101A>TCA338257102ATP13A2c.949T>A (p.Cys317Ser)
c.934T>A (p.Cys312Ser)
n.557T>A
n.88T>A
c.109T>A (p.Cys37Ser)
c.872T>A
c.88T>A (p.Cys30Ser)
c.946T>A (p.Cys316Ser)
c.922T>A (p.Cys308Ser)
c.931T>A (p.Cys311Ser)
c.907T>A (p.Cys303Ser)
c.919T>A (p.Cys307Ser)
1g.17000102G>ACA416094733ATP13A2c.948C>T (p.Asp316=)
c.933C>T (p.Asp311=)
n.556C>T
n.87C>T
c.108C>T (p.Asp36=)
c.871C>T
c.87C>T (p.Asp29=)
c.945C>T (p.Asp315=)
c.921C>T (p.Asp307=)
c.930C>T (p.Asp310=)
c.906C>T (p.Asp302=)
c.918C>T (p.Asp306=)
1g.17000102G>CCA338257105ATP13A2c.948C>G (p.Asp316Glu)
c.933C>G (p.Asp311Glu)
n.556C>G
n.87C>G
c.108C>G (p.Asp36Glu)
c.871C>G
c.87C>G (p.Asp29Glu)
c.945C>G (p.Asp315Glu)
c.921C>G (p.Asp307Glu)
c.930C>G (p.Asp310Glu)
c.906C>G (p.Asp302Glu)
c.918C>G (p.Asp306Glu)
1g.17000102G>TCA338257106ATP13A2c.948C>A (p.Asp316Glu)
c.933C>A (p.Asp311Glu)
n.556C>A
n.87C>A
c.108C>A (p.Asp36Glu)
c.871C>A
c.87C>A (p.Asp29Glu)
c.945C>A (p.Asp315Glu)
c.921C>A (p.Asp307Glu)
c.930C>A (p.Asp310Glu)
c.906C>A (p.Asp302Glu)
c.918C>A (p.Asp306Glu)
1g.17000103T>ACA338257111ATP13A2c.947A>T (p.Asp316Val)
c.932A>T (p.Asp311Val)
n.555A>T
n.86A>T
c.107A>T (p.Asp36Val)
c.870A>T
c.86A>T (p.Asp29Val)
c.944A>T (p.Asp315Val)
c.920A>T (p.Asp307Val)
c.929A>T (p.Asp310Val)
c.905A>T (p.Asp302Val)
c.917A>T (p.Asp306Val)
 gnomAD v4
1g.17000103T>CCA338257110ATP13A2c.947A>G (p.Asp316Gly)
c.932A>G (p.Asp311Gly)
n.555A>G
n.86A>G
c.107A>G (p.Asp36Gly)
c.870A>G
c.86A>G (p.Asp29Gly)
c.944A>G (p.Asp315Gly)
c.920A>G (p.Asp307Gly)
c.929A>G (p.Asp310Gly)
c.905A>G (p.Asp302Gly)
c.917A>G (p.Asp306Gly)
1g.17000103T>GCA338257108ATP13A2c.947A>C (p.Asp316Ala)
c.932A>C (p.Asp311Ala)
n.555A>C
n.86A>C
c.107A>C (p.Asp36Ala)
c.870A>C
c.86A>C (p.Asp29Ala)
c.944A>C (p.Asp315Ala)
c.920A>C (p.Asp307Ala)
c.929A>C (p.Asp310Ala)
c.905A>C (p.Asp302Ala)
c.917A>C (p.Asp306Ala)
1g.17000104C>ACA338257112ATP13A2c.946G>T (p.Asp316Tyr)
c.931G>T (p.Asp311Tyr)
n.554G>T
n.85G>T
c.106G>T (p.Asp36Tyr)
c.869G>T
c.85G>T (p.Asp29Tyr)
c.943G>T (p.Asp315Tyr)
c.919G>T (p.Asp307Tyr)
c.928G>T (p.Asp310Tyr)
c.904G>T (p.Asp302Tyr)
c.916G>T (p.Asp306Tyr)
1g.17000104C>GCA338257114ATP13A2c.946G>C (p.Asp316His)
c.931G>C (p.Asp311His)
n.554G>C
n.85G>C
c.106G>C (p.Asp36His)
c.869G>C
c.85G>C (p.Asp29His)
c.943G>C (p.Asp315His)
c.919G>C (p.Asp307His)
c.928G>C (p.Asp310His)
c.904G>C (p.Asp302His)
c.916G>C (p.Asp306His)
1g.17000104C>TCA338257115ATP13A2c.946G>A (p.Asp316Asn)
c.931G>A (p.Asp311Asn)
n.554G>A
n.85G>A
c.106G>A (p.Asp36Asn)
c.869G>A
c.85G>A (p.Asp29Asn)
c.943G>A (p.Asp315Asn)
c.919G>A (p.Asp307Asn)
c.928G>A (p.Asp310Asn)
c.904G>A (p.Asp302Asn)
c.916G>A (p.Asp306Asn)
 gnomAD v4
1g.17000105T>ACA416094738ATP13A2c.945A>T (p.Gly315=)
c.930A>T (p.Gly310=)
n.553A>T
n.84A>T
c.105A>T (p.Gly35=)
c.868A>T
c.84A>T (p.Gly28=)
c.942A>T (p.Gly314=)
c.918A>T (p.Gly306=)
c.927A>T (p.Gly309=)
c.903A>T (p.Gly301=)
c.915A>T (p.Gly305=)
1g.17000105T>CCA416094739ATP13A2c.945A>G (p.Gly315=)
c.930A>G (p.Gly310=)
n.553A>G
n.84A>G
c.105A>G (p.Gly35=)
c.868A>G
c.84A>G (p.Gly28=)
c.942A>G (p.Gly314=)
c.918A>G (p.Gly306=)
c.927A>G (p.Gly309=)
c.903A>G (p.Gly301=)
c.915A>G (p.Gly305=)
1g.17000105T>GCA416094741ATP13A2c.945A>C (p.Gly315=)
c.930A>C (p.Gly310=)
n.553A>C
n.84A>C
c.105A>C (p.Gly35=)
c.868A>C
c.84A>C (p.Gly28=)
c.942A>C (p.Gly314=)
c.918A>C (p.Gly306=)
c.927A>C (p.Gly309=)
c.903A>C (p.Gly301=)
c.915A>C (p.Gly305=)
1g.17000106C>ACA338257120ATP13A2c.944G>T (p.Gly315Val)
c.929G>T (p.Gly310Val)
n.552G>T
n.83G>T
c.104G>T (p.Gly35Val)
c.867G>T
c.83G>T (p.Gly28Val)
c.941G>T (p.Gly314Val)
c.917G>T (p.Gly306Val)
c.926G>T (p.Gly309Val)
c.902G>T (p.Gly301Val)
c.914G>T (p.Gly305Val)
1g.17000106C>GCA338257122ATP13A2c.944G>C (p.Gly315Ala)
c.929G>C (p.Gly310Ala)
n.552G>C
n.83G>C
c.104G>C (p.Gly35Ala)
c.867G>C
c.83G>C (p.Gly28Ala)
c.941G>C (p.Gly314Ala)
c.917G>C (p.Gly306Ala)
c.926G>C (p.Gly309Ala)
c.902G>C (p.Gly301Ala)
c.914G>C (p.Gly305Ala)
1g.17000106C>TCA338257123ATP13A2c.944G>A (p.Gly315Glu)
c.929G>A (p.Gly310Glu)
n.552G>A
n.83G>A
c.104G>A (p.Gly35Glu)
c.867G>A
c.83G>A (p.Gly28Glu)
c.941G>A (p.Gly314Glu)
c.917G>A (p.Gly306Glu)
c.926G>A (p.Gly309Glu)
c.902G>A (p.Gly301Glu)
c.914G>A (p.Gly305Glu)
1g.17000107C>ACA338257124ATP13A2c.943G>T (p.Gly315Ter)
c.928G>T (p.Gly310Ter)
n.551G>T
n.82G>T
c.103G>T (p.Gly35Ter)
c.866G>T
c.82G>T (p.Gly28Ter)
c.940G>T (p.Gly314Ter)
c.916G>T (p.Gly306Ter)
c.925G>T (p.Gly309Ter)
c.901G>T (p.Gly301Ter)
c.913G>T (p.Gly305Ter)
1g.17000107C=CA1142368882ATP13A2c.943G= (p.Gly315=)
c.928G= (p.Gly310=)
n.551G=
n.82G=
c.103G= (p.Gly35=)
c.866G=
c.82G= (p.Gly28=)
c.940G= (p.Gly314=)
c.916G= (p.Gly306=)
c.925G= (p.Gly309=)
c.901G= (p.Gly301=)
c.913G= (p.Gly305=)
1g.17000107C>GCA338257126ATP13A2c.943G>C (p.Gly315Arg)
c.928G>C (p.Gly310Arg)
n.551G>C
n.82G>C
c.103G>C (p.Gly35Arg)
c.866G>C
c.82G>C (p.Gly28Arg)
c.940G>C (p.Gly314Arg)
c.916G>C (p.Gly306Arg)
c.925G>C (p.Gly309Arg)
c.901G>C (p.Gly301Arg)
c.913G>C (p.Gly305Arg)
1g.17000107C>TCA276126ATP13A2c.943G>A (p.Gly315Arg)
c.928G>A (p.Gly310Arg)
n.551G>A
n.82G>A
c.103G>A (p.Gly35Arg)
c.866G>A
c.82G>A (p.Gly28Arg)
c.940G>A (p.Gly314Arg)
c.916G>A (p.Gly306Arg)
c.925G>A (p.Gly309Arg)
c.901G>A (p.Gly301Arg)
c.913G>A (p.Gly305Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched