Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552533T>CCA2557356242F5c.1296+24A>G (n.1296+24A>G)
c.885+24A>G (n.885+24A>G)
 gnomAD v4
1g.169552533T>GCA1234376F5c.1296+24A>C (n.1296+24A>C)
c.885+24A>C (n.885+24A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552533T=CA1144140125F5c.1296+24A= (n.1296+24A=)
c.885+24A= (n.885+24A=)
1g.169552534G>ACA1234377F5c.1296+23C>T (n.1296+23C>T)
c.885+23C>T (n.885+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552534G=CA1149055250F5c.1296+23C= (n.1296+23C=)
c.885+23C= (n.885+23C=)
1g.169552534G>TCA1206146741F5c.1296+23C>A (n.1296+23C>A)
c.885+23C>A (n.885+23C>A)
 dbSNP gnomAD v4
1g.169552535A>GCA2649035996F5c.1296+22T>C (n.1296+22T>C)
c.885+22T>C (n.885+22T>C)
 gnomAD v4
1g.169552538C>TCA2649035997F5c.1296+19G>A (n.1296+19G>A)
c.885+19G>A (n.885+19G>A)
 gnomAD v4
1g.169552539T>CCA2649035999F5c.1296+18A>G (n.1296+18A>G)
c.885+18A>G (n.885+18A>G)
 gnomAD v4
1g.169552540G>CCA1206146743F5c.1296+17C>G (n.1296+17C>G)
c.885+17C>G (n.885+17C>G)
 dbSNP
1g.169552540G=CA1206146742F5c.1296+17C= (n.1296+17C=)
c.885+17C= (n.885+17C=)
1g.169552541T>CCA1206146746F5c.1296+16A>G (n.1296+16A>G)
c.885+16A>G (n.885+16A>G)
 dbSNP gnomAD v4
1g.169552541T=CA1206146745F5c.1296+16A= (n.1296+16A=)
c.885+16A= (n.885+16A=)
1g.169552542A>GCA2649036000F5c.1296+15T>C (n.1296+15T>C)
c.885+15T>C (n.885+15T>C)
 gnomAD v4
1g.169552542A>TCA2649036002F5c.1296+15T>A (n.1296+15T>A)
c.885+15T>A (n.885+15T>A)
 gnomAD v4
1g.169552544T>CCA527131281F5c.1296+13A>G (n.1296+13A>G)
c.885+13A>G (n.885+13A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169552544T=CA1206146747F5c.1296+13A= (n.1296+13A=)
c.885+13A= (n.885+13A=)
1g.169552545T>GCA2739275393F5c.1296+12A>C (n.1296+12A>C)
c.885+12A>C (n.885+12A>C)
 ClinVar
1g.169552546G=CA1206146749F5c.1296+11C= (n.1296+11C=)
c.885+11C= (n.885+11C=)
1g.169552546G>TCA1008978407F5c.1296+11C>A (n.1296+11C>A)
c.885+11C>A (n.885+11C>A)
 dbSNP gnomAD v3 gnomAD v4
1g.169552547T>GCA1234378F5c.1296+10A>C (n.1296+10A>C)
c.885+10A>C (n.885+10A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552547T=CA1206146750F5c.1296+10A= (n.1296+10A=)
c.885+10A= (n.885+10A=)
1g.169552548G>ACA527131282F5c.1296+9C>T (n.1296+9C>T)
c.885+9C>T (n.885+9C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.169552548G=CA1206146752F5c.1296+9C= (n.1296+9C=)
c.885+9C= (n.885+9C=)
1g.169552549T>CCA2649036003F5c.1296+8A>G (n.1296+8A>G)
c.885+8A>G (n.885+8A>G)
 gnomAD v4
1g.169552555_169552558delCA2573948487F5c.1296+5_1296+8del
c.885+5_885+8del
 gnomAD v4
1g.169552551A>GCA2586964395F5c.1296+6T>C (n.1296+6T>C)
c.885+6T>C (n.885+6T>C)
1g.169552551A>TCA2649036004F5c.1296+6T>A (n.1296+6T>A)
c.885+6T>A (n.885+6T>A)
 gnomAD v4
1g.169552553T>ACA1234379F5c.1296+4A>T (n.1296+4A>T)
c.885+4A>T (n.885+4A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552553T=CA1206146754F5c.1296+4A= (n.1296+4A=)
c.885+4A= (n.885+4A=)
1g.169552555A>CCA343127544F5c.1296+2T>G (n.1296+2T>G)
c.885+2T>G (n.885+2T>G)
1g.169552555A>GCA343127546F5c.1296+2T>C (n.1296+2T>C)
c.885+2T>C (n.885+2T>C)
 gnomAD v4
1g.169552555A>TCA343127532F5c.1296+2T>A (n.1296+2T>A)
c.885+2T>A (n.885+2T>A)
1g.169552556C>ACA343127554F5c.1296+1G>T (n.1296+1G>T)
c.885+1G>T (n.885+1G>T)
1g.169552556C>GCA343127558F5c.1296+1G>C (n.1296+1G>C)
c.885+1G>C (n.885+1G>C)
1g.169552556C>TCA343127561F5c.1296+1G>A (n.1296+1G>A)
c.885+1G>A (n.885+1G>A)
1g.169552557T>ACA343127564F5c.1296A>T (p.Lys432Asn)
c.885A>T (p.Lys295Asn)
1g.169552557T>CCA421732406F5c.1296A>G (p.Lys432=)
c.885A>G (p.Lys295=)
 gnomAD v4
1g.169552557T>GCA343127566F5c.1296A>C (p.Lys432Asn)
c.885A>C (p.Lys295Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.169552557T=CA1206146757F5c.1296A= (p.Lys432=)
c.885A= (p.Lys295=)
1g.169552558T>ACA343127570F5c.1295A>T (p.Lys432Ile)
c.884A>T (p.Lys295Ile)
1g.169552558T>CCA32388679F5c.1295A>G (p.Lys432Arg)
c.884A>G (p.Lys295Arg)
 dbSNP gnomAD v4
1g.169552558T>GCA343127585F5c.1295A>C (p.Lys432Thr)
c.884A>C (p.Lys295Thr)
1g.169552558T=CA1206146763F5c.1295A= (p.Lys432=)
c.884A= (p.Lys295=)
1g.169552559T>ACA343127588F5c.1294A>T (p.Lys432Ter)
c.883A>T (p.Lys295Ter)
1g.169552559T>CCA343127592F5c.1294A>G (p.Lys432Glu)
c.883A>G (p.Lys295Glu)
1g.169552559T>GCA343127597F5c.1294A>C (p.Lys432Gln)
c.883A>C (p.Lys295Gln)
1g.169552560G>ACA421732421F5c.1293C>T (p.Leu431=)
c.882C>T (p.Leu294=)
1g.169552560G>CCA421732423F5c.1293C>G (p.Leu431=)
c.882C>G (p.Leu294=)
 gnomAD v4
1g.169552560G>TCA421732424F5c.1293C>A (p.Leu431=)
c.882C>A (p.Leu294=)
1g.169552561A=CA1206146771F5c.1292T= (p.Leu431=)
c.881T= (p.Leu294=)
1g.169552561A>CCA343127606F5c.1292T>G (p.Leu431Arg)
c.881T>G (p.Leu294Arg)
1g.169552561A>GCA1234380F5c.1292T>C (p.Leu431Pro)
c.881T>C (p.Leu294Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552561A>TCA1234381F5c.1292T>A (p.Leu431His)
c.881T>A (p.Leu294His)
 dbSNP ExAC
1g.169552562G>ACA343127614F5c.1291C>T (p.Leu431Phe)
c.880C>T (p.Leu294Phe)
1g.169552562G>CCA343127616F5c.1291C>G (p.Leu431Val)
c.880C>G (p.Leu294Val)
1g.169552562G>TCA343127617F5c.1291C>A (p.Leu431Ile)
c.880C>A (p.Leu294Ile)
 gnomAD v4
1g.169552563T>ACA421732437F5c.1290A>T (p.Thr430=)
c.879A>T (p.Thr293=)
 gnomAD v4
1g.169552563T>CCA421732439F5c.1290A>G (p.Thr430=)
c.879A>G (p.Thr293=)
 dbSNP
1g.169552563T>GCA421732441F5c.1290A>C (p.Thr430=)
c.879A>C (p.Thr293=)
1g.169552563T=CA1206146772F5c.1290A= (p.Thr430=)
c.879A= (p.Thr293=)
1g.169552564G>ACA343127621F5c.1289C>T (p.Thr430Ile)
c.878C>T (p.Thr293Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.169552564G>CCA343127625F5c.1289C>G (p.Thr430Arg)
c.878C>G (p.Thr293Arg)
1g.169552564G=CA1206146774F5c.1289C= (p.Thr430=)
c.878C= (p.Thr293=)
1g.169552564G>TCA343127626F5c.1289C>A (p.Thr430Lys)
c.878C>A (p.Thr293Lys)
1g.169552565T>ACA343127627F5c.1288A>T (p.Thr430Ser)
c.877A>T (p.Thr293Ser)
1g.169552565T>CCA343127629F5c.1288A>G (p.Thr430Ala)
c.877A>G (p.Thr293Ala)
1g.169552565T>GCA343127628F5c.1288A>C (p.Thr430Pro)
c.877A>C (p.Thr293Pro)
1g.169552566G>ACA421732451F5c.1287C>T (p.Asp429=)
c.876C>T (p.Asp292=)
1g.169552566G>CCA343127633F5c.1287C>G (p.Asp429Glu)
c.876C>G (p.Asp292Glu)
 ClinVar gnomAD v4
1g.169552566G>TCA343127634F5c.1287C>A (p.Asp429Glu)
c.876C>A (p.Asp292Glu)
1g.169552567T>ACA343127636F5c.1286A>T (p.Asp429Val)
c.875A>T (p.Asp292Val)
1g.169552567T>CCA343127640F5c.1286A>G (p.Asp429Gly)
c.875A>G (p.Asp292Gly)
1g.169552567T>GCA343127644F5c.1286A>C (p.Asp429Ala)
c.875A>C (p.Asp292Ala)
1g.169552568C>ACA343127651F5c.1285G>T (p.Asp429Tyr)
c.874G>T (p.Asp292Tyr)
1g.169552568C>GCA343127653F5c.1285G>C (p.Asp429His)
c.874G>C (p.Asp292His)
1g.169552568C>TCA343127648F5c.1285G>A (p.Asp429Asn)
c.874G>A (p.Asp292Asn)
1g.169552569T>ACA343127668F5c.1284A>T (p.Arg428Ser)
c.873A>T (p.Arg291Ser)
1g.169552569T>CCA421732464F5c.1284A>G (p.Arg428=)
c.873A>G (p.Arg291=)
 gnomAD v4
1g.169552569T>GCA343127658F5c.1284A>C (p.Arg428Ser)
c.873A>C (p.Arg291Ser)
1g.169552570C>ACA343127670F5c.1283G>T (p.Arg428Ile)
c.872G>T (p.Arg291Ile)
1g.169552570C>GCA343127672F5c.1283G>C (p.Arg428Thr)
c.872G>C (p.Arg291Thr)
1g.169552570C>TCA343127674F5c.1283G>A (p.Arg428Lys)
c.872G>A (p.Arg291Lys)
1g.169552571T>ACA343127683F5c.1282A>T (p.Arg428Ter)
c.871A>T (p.Arg291Ter)
1g.169552571T>CCA32388680F5c.1282A>G (p.Arg428Gly)
c.871A>G (p.Arg291Gly)
 dbSNP
1g.169552571T>GCA421732474F5c.1282A>C (p.Arg428=)
c.871A>C (p.Arg291=)
1g.169552571T=CA1143432440F5c.1282A= (p.Arg428=)
c.871A= (p.Arg291=)
1g.169552572G>ACA421732476F5c.1281C>T (p.Val427=)
c.870C>T (p.Val290=)
1g.169552572G>CCA421732478F5c.1281C>G (p.Val427=)
c.870C>G (p.Val290=)
 ClinVar dbSNP gnomAD v4
1g.169552572G=CA1206146777F5c.1281C= (p.Val427=)
c.870C= (p.Val290=)
1g.169552572G>TCA421732479F5c.1281C>A (p.Val427=)
c.870C>A (p.Val290=)
1g.169552573A>CCA343127711F5c.1280T>G (p.Val427Gly)
c.869T>G (p.Val290Gly)
1g.169552573A>GCA343127701F5c.1280T>C (p.Val427Ala)
c.869T>C (p.Val290Ala)
1g.169552573A>TCA343127704F5c.1280T>A (p.Val427Asp)
c.869T>A (p.Val290Asp)
1g.169552574C>ACA343127717F5c.1279G>T (p.Val427Phe)
c.868G>T (p.Val290Phe)
 gnomAD v4
1g.169552574C=CA1206146780F5c.1279G= (p.Val427=)
c.868G= (p.Val290=)
1g.169552574C>GCA343127744F5c.1279G>C (p.Val427Leu)
c.868G>C (p.Val290Leu)
1g.169552574C>TCA343127747F5c.1279G>A (p.Val427Ile)
c.868G>A (p.Val290Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.169552575C>ACA343127749F5c.1278G>T (p.Gln426His)
c.867G>T (p.Gln289His)
1g.169552575C>GCA343127750F5c.1278G>C (p.Gln426His)
c.867G>C (p.Gln289His)
 COSMIC
1g.169552575C>TCA421732482F5c.1278G>A (p.Gln426=)
c.867G>A (p.Gln289=)
1g.169552576T>ACA343127751F5c.1277A>T (p.Gln426Leu)
c.866A>T (p.Gln289Leu)
 COSMIC
1g.169552576T>CCA343127763F5c.1277A>G (p.Gln426Arg)
c.866A>G (p.Gln289Arg)
1g.169552576T>GCA343127755F5c.1277A>C (p.Gln426Pro)
c.866A>C (p.Gln289Pro)
1g.169552577G>ACA32388681F5c.1276C>T (p.Gln426Ter)
c.865C>T (p.Gln289Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.169552577G>CCA343127775F5c.1276C>G (p.Gln426Glu)
c.865C>G (p.Gln289Glu)
1g.169552577G=CA1206146785F5c.1276C= (p.Gln426=)
c.865C= (p.Gln289=)
1g.169552577G>TCA343127777F5c.1276C>A (p.Gln426Lys)
c.865C>A (p.Gln289Lys)
1g.169552578G>ACA421732487F5c.1275C>T (p.Ala425=)
c.864C>T (p.Ala288=)
1g.169552578G>CCA421732489F5c.1275C>G (p.Ala425=)
c.864C>G (p.Ala288=)
1g.169552578G=CA1206146788F5c.1275C= (p.Ala425=)
c.864C= (p.Ala288=)
1g.169552578G>TCA421732491F5c.1275C>A (p.Ala425=)
c.864C>A (p.Ala288=)
 dbSNP
1g.169552579G>ACA343127780F5c.1274C>T (p.Ala425Val)
c.863C>T (p.Ala288Val)
 gnomAD v4
1g.169552579G>CCA343127785F5c.1274C>G (p.Ala425Gly)
c.863C>G (p.Ala288Gly)
1g.169552579G>TCA343127786F5c.1274C>A (p.Ala425Asp)
c.863C>A (p.Ala288Asp)
1g.169552580C>ACA343127789F5c.1273G>T (p.Ala425Ser)
c.862G>T (p.Ala288Ser)
1g.169552580C>GCA343127791F5c.1273G>C (p.Ala425Pro)
c.862G>C (p.Ala288Pro)
1g.169552580C>TCA343127795F5c.1273G>A (p.Ala425Thr)
c.862G>A (p.Ala288Thr)
1g.169552581T>ACA343127801F5c.1272A>T (p.Arg424Ser)
c.861A>T (p.Arg287Ser)
1g.169552581T>CCA421732502F5c.1272A>G (p.Arg424=)
c.861A>G (p.Arg287=)
1g.169552581T>GCA343127811F5c.1272A>C (p.Arg424Ser)
c.861A>C (p.Arg287Ser)
1g.169552582C>ACA343127833F5c.1271G>T (p.Arg424Ile)
c.860G>T (p.Arg287Ile)
1g.169552582C>GCA343127824F5c.1271G>C (p.Arg424Thr)
c.860G>C (p.Arg287Thr)
1g.169552582C>TCA343127815F5c.1271G>A (p.Arg424Lys)
c.860G>A (p.Arg287Lys)
1g.169552583T>ACA343127837F5c.1270A>T (p.Arg424Ter)
c.859A>T (p.Arg287Ter)
1g.169552583T>CCA343127840F5c.1270A>G (p.Arg424Gly)
c.859A>G (p.Arg287Gly)
1g.169552583T>GCA421732503F5c.1270A>C (p.Arg424=)
c.859A>C (p.Arg287=)
1g.169552584G>ACA421732504F5c.1269C>T (p.Ile423=)
c.858C>T (p.Ile286=)
1g.169552584G>CCA1234382F5c.1269C>G (p.Ile423Met)
c.858C>G (p.Ile286Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552584G=CA1206146793F5c.1269C= (p.Ile423=)
c.858C= (p.Ile286=)
1g.169552584G>TCA421732505F5c.1269C>A (p.Ile423=)
c.858C>A (p.Ile286=)
1g.169552585A>CCA343127843F5c.1268T>G (p.Ile423Ser)
c.857T>G (p.Ile286Ser)
1g.169552585A>GCA343127844F5c.1268T>C (p.Ile423Thr)
c.857T>C (p.Ile286Thr)
1g.169552585A>TCA343127845F5c.1268T>A (p.Ile423Asn)
c.857T>A (p.Ile286Asn)
1g.169552586T>ACA343127846F5c.1267A>T (p.Ile423Phe)
c.856A>T (p.Ile286Phe)
1g.169552586T>CCA343127851F5c.1267A>G (p.Ile423Val)
c.856A>G (p.Ile286Val)
 gnomAD v4
1g.169552586T>GCA343127860F5c.1267A>C (p.Ile423Leu)
c.856A>C (p.Ile286Leu)
1g.169552587A>CCA343127862F5c.1266T>G (p.Ile422Met)
c.855T>G (p.Ile285Met)
1g.169552587A>GCA421732507F5c.1266T>C (p.Ile422=)
c.855T>C (p.Ile285=)
1g.169552587A>TCA421732506F5c.1266T>A (p.Ile422=)
c.855T>A (p.Ile285=)
1g.169552588A>CCA343127868F5c.1265T>G (p.Ile422Ser)
c.854T>G (p.Ile285Ser)
1g.169552588A>GCA343127875F5c.1265T>C (p.Ile422Thr)
c.854T>C (p.Ile285Thr)
 ClinVar dbSNP
1g.169552588A>TCA343127878F5c.1265T>A (p.Ile422Asn)
c.854T>A (p.Ile285Asn)
1g.169552589T>ACA343127896F5c.1264A>T (p.Ile422Phe)
c.853A>T (p.Ile285Phe)
1g.169552589T>CCA343127888F5c.1264A>G (p.Ile422Val)
c.853A>G (p.Ile285Val)
 dbSNP gnomAD v4
1g.169552589T>GCA343127893F5c.1264A>C (p.Ile422Leu)
c.853A>C (p.Ile285Leu)
1g.169552589T=CA1206146797F5c.1264A= (p.Ile422=)
c.853A= (p.Ile285=)
1g.169552590A=CA1206146802F5c.1263T= (p.Pro421=)
c.852T= (p.Pro284=)
1g.169552590A>CCA421732508F5c.1263T>G (p.Pro421=)
c.852T>G (p.Pro284=)
1g.169552590A>GCA1234383F5c.1263T>C (p.Pro421=)
c.852T>C (p.Pro284=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552590A>TCA421732509F5c.1263T>A (p.Pro421=)
c.852T>A (p.Pro284=)
1g.169552591G>ACA343127903F5c.1262C>T (p.Pro421Leu)
c.851C>T (p.Pro284Leu)
1g.169552591G>CCA343127906F5c.1262C>G (p.Pro421Arg)
c.851C>G (p.Pro284Arg)
1g.169552591G>TCA343127910F5c.1262C>A (p.Pro421His)
c.851C>A (p.Pro284His)
1g.169552592G>ACA343127917F5c.1261C>T (p.Pro421Ser)
c.850C>T (p.Pro284Ser)
1g.169552592G>CCA343127929F5c.1261C>G (p.Pro421Ala)
c.850C>G (p.Pro284Ala)
1g.169552592G=CA1206146804F5c.1261C= (p.Pro421=)
c.850C= (p.Pro284=)
1g.169552592G>TCA343127931F5c.1261C>A (p.Pro421Thr)
c.850C>A (p.Pro284Thr)
 dbSNP
1g.169552593A=CA1206146806F5c.1260T= (p.Gly420=)
c.849T= (p.Gly283=)
1g.169552593A>CCA421732510F5c.1260T>G (p.Gly420=)
c.849T>G (p.Gly283=)
1g.169552593A>GCA421732511F5c.1260T>C (p.Gly420=)
c.849T>C (p.Gly283=)
 dbSNP gnomAD v3 gnomAD v4
1g.169552593A>TCA421732512F5c.1260T>A (p.Gly420=)
c.849T>A (p.Gly283=)
1g.169552594C>ACA343127939F5c.1259G>T (p.Gly420Val)
c.848G>T (p.Gly283Val)
1g.169552594C>GCA343127940F5c.1259G>C (p.Gly420Ala)
c.848G>C (p.Gly283Ala)
1g.169552594C>TCA343127961F5c.1259G>A (p.Gly420Asp)
c.848G>A (p.Gly283Asp)
1g.169552595C>ACA343127965F5c.1258G>T (p.Gly420Cys)
c.847G>T (p.Gly283Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169552595C=CA1206146809F5c.1258G= (p.Gly420=)
c.847G= (p.Gly283=)
1g.169552595C>GCA343127977F5c.1258G>C (p.Gly420Arg)
c.847G>C (p.Gly283Arg)
1g.169552595C>TCA343127978F5c.1258G>A (p.Gly420Ser)
c.847G>A (p.Gly283Ser)
1g.169552596C>ACA343127993F5c.1257G>T (p.Leu419Phe)
c.846G>T (p.Leu282Phe)
1g.169552596C>GCA343127979F5c.1257G>C (p.Leu419Phe)
c.846G>C (p.Leu282Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.169552596C>TCA421732513F5c.1257G>A (p.Leu419=)
c.846G>A (p.Leu282=)
1g.169552597A>CCA343128000F5c.1256T>G (p.Leu419Trp)
c.845T>G (p.Leu282Trp)
1g.169552597A>GCA343128008F5c.1256T>C (p.Leu419Ser)
c.845T>C (p.Leu282Ser)
1g.169552597A>TCA343128007F5c.1256T>A (p.Leu419Ter)
c.845T>A (p.Leu282Ter)
1g.169552600dupCA2649036043F5c.1256dup (p.Leu419PhefsTer26)
c.845dup (p.Leu282PhefsTer26)
 gnomAD v4
1g.169552598A>CCA343128009F5c.1255T>G (p.Leu419Val)
c.844T>G (p.Leu282Val)
1g.169552598A>GCA421732514F5c.1255T>C (p.Leu419=)
c.844T>C (p.Leu282=)
1g.169552598A>TCA343128010F5c.1255T>A (p.Leu419Met)
c.844T>A (p.Leu282Met)
1g.169552599A>CCA343128011F5c.1254T>G (p.Ile418Met)
c.843T>G (p.Ile281Met)
1g.169552599A>GCA421732515F5c.1254T>C (p.Ile418=)
c.843T>C (p.Ile281=)
1g.169552599A>TCA421732516F5c.1254T>A (p.Ile418=)
c.843T>A (p.Ile281=)
1g.169552600A=CA1206146812F5c.1253T= (p.Ile418=)
c.842T= (p.Ile281=)
1g.169552600A>CCA343128013F5c.1253T>G (p.Ile418Ser)
c.842T>G (p.Ile281Ser)
1g.169552600A>GCA1234384F5c.1253T>C (p.Ile418Thr)
c.842T>C (p.Ile281Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552600A>TCA343128016F5c.1253T>A (p.Ile418Asn)
c.842T>A (p.Ile281Asn)
1g.169552601T>ACA343128035F5c.1252A>T (p.Ile418Phe)
c.841A>T (p.Ile281Phe)
1g.169552601T>CCA343128041F5c.1252A>G (p.Ile418Val)
c.841A>G (p.Ile281Val)
 dbSNP
1g.169552601T>GCA343128045F5c.1252A>C (p.Ile418Leu)
c.841A>C (p.Ile281Leu)
1g.169552601T=CA1206146817F5c.1252A= (p.Ile418=)
c.841A= (p.Ile281=)
1g.169552602C>ACA421732517F5c.1251G>T (p.Gly417=)
c.840G>T (p.Gly280=)
1g.169552602C>GCA421732518F5c.1251G>C (p.Gly417=)
c.840G>C (p.Gly280=)
 gnomAD v4
1g.169552602C>TCA421732519F5c.1251G>A (p.Gly417=)
c.840G>A (p.Gly280=)
1g.169552603C>ACA343128049F5c.1250G>T (p.Gly417Val)
c.839G>T (p.Gly280Val)
1g.169552603C>GCA343128052F5c.1250G>C (p.Gly417Ala)
c.839G>C (p.Gly280Ala)
1g.169552603C>TCA343128055F5c.1250G>A (p.Gly417Glu)
c.839G>A (p.Gly280Glu)
1g.169552604C>ACA343128062F5c.1249G>T (p.Gly417Trp)
c.838G>T (p.Gly280Trp)
1g.169552604C>GCA343128067F5c.1249G>C (p.Gly417Arg)
c.838G>C (p.Gly280Arg)
1g.169552604C>TCA343128069F5c.1249G>A (p.Gly417Arg)
c.838G>A (p.Gly280Arg)
1g.169552605A>CCA343128071F5c.1248T>G (p.Asp416Glu)
c.837T>G (p.Asp279Glu)
1g.169552605A>GCA421732520F5c.1248T>C (p.Asp416=)
c.837T>C (p.Asp279=)
1g.169552605A>TCA343128073F5c.1248T>A (p.Asp416Glu)
c.837T>A (p.Asp279Glu)
1g.169552606T>ACA343128075F5c.1247A>T (p.Asp416Val)
c.836A>T (p.Asp279Val)
1g.169552606T>CCA343128078F5c.1247A>G (p.Asp416Gly)
c.836A>G (p.Asp279Gly)
1g.169552606T>GCA343128090F5c.1247A>C (p.Asp416Ala)
c.836A>C (p.Asp279Ala)
1g.169552610_169552612delCA2649036050F5c.1245_1247del (p.Glu415del)
c.834_836del (p.Glu278del)
 gnomAD v4
1g.169552607C>ACA343128100F5c.1246G>T (p.Asp416Tyr)
c.835G>T (p.Asp279Tyr)
1g.169552607C>GCA343128104F5c.1246G>C (p.Asp416His)
c.835G>C (p.Asp279His)
1g.169552607C>TCA343128107F5c.1246G>A (p.Asp416Asn)
c.835G>A (p.Asp279Asn)
1g.169552607_169552608delinsCTCA1206146820F5c.1245_1246delinsAG (p.Glu415=)
c.834_835delinsAG (p.Glu278=)
1g.169552608T>ACA343128111F5c.1245A>T (p.Glu415Asp)
c.834A>T (p.Glu278Asp)
1g.169552608T>CCA421732521F5c.1245A>G (p.Glu415=)
c.834A>G (p.Glu278=)
1g.169552608T>GCA343128112F5c.1245A>C (p.Glu415Asp)
c.834A>C (p.Glu278Asp)
 gnomAD v4
1g.169552609delCA527131283F5c.1245del (p.Asp416MetfsTer?)
c.834del (p.Asp279MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.169552609T>ACA343128115F5c.1244A>T (p.Glu415Val)
c.833A>T (p.Glu278Val)
1g.169552609T>CCA343128116F5c.1244A>G (p.Glu415Gly)
c.833A>G (p.Glu278Gly)
1g.169552609T>GCA343128118F5c.1244A>C (p.Glu415Ala)
c.833A>C (p.Glu278Ala)
1g.169552610C>ACA343128138F5c.1243G>T (p.Glu415Ter)
c.832G>T (p.Glu278Ter)
1g.169552610C>GCA343128135F5c.1243G>C (p.Glu415Gln)
c.832G>C (p.Glu278Gln)
1g.169552610C>TCA343128123F5c.1243G>A (p.Glu415Lys)
c.832G>A (p.Glu278Lys)
1g.169552611T>ACA343128140F5c.1242A>T (p.Lys414Asn)
c.831A>T (p.Lys277Asn)
1g.169552611T>CCA1234385F5c.1242A>G (p.Lys414=)
c.831A>G (p.Lys277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552611T>GCA343128155F5c.1242A>C (p.Lys414Asn)
c.831A>C (p.Lys277Asn)
 gnomAD v4
1g.169552611T=CA1139773089F5c.1242A= (p.Lys414=)
c.831A= (p.Lys277=)
1g.169552612T>ACA343128163F5c.1241A>T (p.Lys414Ile)
c.830A>T (p.Lys277Ile)
1g.169552612T>CCA343128167F5c.1241A>G (p.Lys414Arg)
c.830A>G (p.Lys277Arg)
1g.169552612T>GCA343128169F5c.1241A>C (p.Lys414Thr)
c.830A>C (p.Lys277Thr)
1g.169552613T>ACA343128172F5c.1240A>T (p.Lys414Ter)
c.829A>T (p.Lys277Ter)
1g.169552613T>CCA343128176F5c.1240A>G (p.Lys414Glu)
c.829A>G (p.Lys277Glu)
1g.169552613T>GCA343128182F5c.1240A>C (p.Lys414Gln)
c.829A>C (p.Lys277Gln)
1g.169552614C>ACA343128185F5c.1239G>T (p.Met413Ile)
c.828G>T (p.Met276Ile)
1g.169552614C>GCA343128186F5c.1239G>C (p.Met413Ile)
c.828G>C (p.Met276Ile)
1g.169552614C>TCA343128188F5c.1239G>A (p.Met413Ile)
c.828G>A (p.Met276Ile)
1g.169552615A=CA1139773087F5c.1238T= (p.Met413=)
c.827T= (p.Met276=)
1g.169552615A>CCA343128202F5c.1238T>G (p.Met413Arg)
c.827T>G (p.Met276Arg)
1g.169552615A>GCA1234386F5c.1238T>C (p.Met413Thr)
c.827T>C (p.Met276Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552615A>TCA343128198F5c.1238T>A (p.Met413Lys)
c.827T>A (p.Met276Lys)
 dbSNP
1g.169552616T>ACA343128220F5c.1237A>T (p.Met413Leu)
c.826A>T (p.Met276Leu)
1g.169552616T>CCA343128228F5c.1237A>G (p.Met413Val)
c.826A>G (p.Met276Val)
 COSMIC
1g.169552616T>GCA343128231F5c.1237A>C (p.Met413Leu)
c.826A>C (p.Met276Leu)
1g.169552616dupCA1234387F5c.1237dup (p.Met413AsnfsTer?)
c.826dup (p.Met276AsnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552617A>CCA343128235F5c.1236T>G (p.Asn412Lys)
c.825T>G (p.Asn275Lys)
1g.169552617A>GCA421732525F5c.1236T>C (p.Asn412=)
c.825T>C (p.Asn275=)
1g.169552617A>TCA343128238F5c.1236T>A (p.Asn412Lys)
c.825T>A (p.Asn275Lys)
1g.169552618T>ACA343128243F5c.1235A>T (p.Asn412Ile)
c.824A>T (p.Asn275Ile)
1g.169552618T>CCA343128254F5c.1235A>G (p.Asn412Ser)
c.824A>G (p.Asn275Ser)
 COSMIC
1g.169552618T>GCA343128262F5c.1235A>C (p.Asn412Thr)
c.824A>C (p.Asn275Thr)
1g.169552619T>ACA343128275F5c.1234A>T (p.Asn412Tyr)
c.823A>T (p.Asn275Tyr)
1g.169552619T>CCA1234388F5c.1234A>G (p.Asn412Asp)
c.823A>G (p.Asn275Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552619T>GCA343128285F5c.1234A>C (p.Asn412His)
c.823A>C (p.Asn275His)
1g.169552619T=CA1206146842F5c.1234A= (p.Asn412=)
c.823A= (p.Asn275=)
1g.169552620G>ACA421732526F5c.1233C>T (p.Pro411=)
c.822C>T (p.Pro274=)
1g.169552620G>CCA421732527F5c.1233C>G (p.Pro411=)
c.822C>G (p.Pro274=)
1g.169552620G>TCA421732528F5c.1233C>A (p.Pro411=)
c.822C>A (p.Pro274=)
1g.169552622delCA2649036069F5c.1233del (p.Asn412IlefsTer2)
c.822del (p.Asn275IlefsTer2)
 gnomAD v4
1g.169552621G>ACA343128308F5c.1232C>T (p.Pro411Leu)
c.821C>T (p.Pro274Leu)
 gnomAD v4 COSMIC
1g.169552621G>CCA343128307F5c.1232C>G (p.Pro411Arg)
c.821C>G (p.Pro274Arg)
1g.169552621G>TCA343128306F5c.1232C>A (p.Pro411His)
c.821C>A (p.Pro274His)
1g.169552622G>ACA343128313F5c.1231C>T (p.Pro411Ser)
c.820C>T (p.Pro274Ser)
 gnomAD v4
1g.169552622G>CCA343128310F5c.1231C>G (p.Pro411Ala)
c.820C>G (p.Pro274Ala)
1g.169552622G>TCA343128316F5c.1231C>A (p.Pro411Thr)
c.820C>A (p.Pro274Thr)
1g.169552623A>CCA343128319F5c.1230T>G (p.Asn410Lys)
c.819T>G (p.Asn273Lys)
1g.169552623A>GCA421732529F5c.1230T>C (p.Asn410=)
c.819T>C (p.Asn273=)
1g.169552623A>TCA343128336F5c.1230T>A (p.Asn410Lys)
c.819T>A (p.Asn273Lys)
1g.169552624T>ACA343128338F5c.1229A>T (p.Asn410Ile)
c.818A>T (p.Asn273Ile)
1g.169552624T>CCA343128343F5c.1229A>G (p.Asn410Ser)
c.818A>G (p.Asn273Ser)
1g.169552624T>GCA343128346F5c.1229A>C (p.Asn410Thr)
c.818A>C (p.Asn273Thr)
1g.169552625T>ACA343128358F5c.1228A>T (p.Asn410Tyr)
c.817A>T (p.Asn273Tyr)
1g.169552625T>CCA343128364F5c.1228A>G (p.Asn410Asp)
c.817A>G (p.Asn273Asp)
1g.169552625T>GCA1234389F5c.1228A>C (p.Asn410His)
c.817A>C (p.Asn273His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552625T=CA1143879149F5c.1228A= (p.Asn410=)
c.817A= (p.Asn273=)
1g.169552626C>ACA421732532F5c.1227G>T (p.Val409=)
c.816G>T (p.Val272=)
1g.169552626C>GCA421732531F5c.1227G>C (p.Val409=)
c.816G>C (p.Val272=)
1g.169552626C>TCA421732530F5c.1227G>A (p.Val409=)
c.816G>A (p.Val272=)
1g.169552627A=CA1206146845F5c.1226T= (p.Val409=)
c.815T= (p.Val272=)
1g.169552627A>CCA343128371F5c.1226T>G (p.Val409Gly)
c.815T>G (p.Val272Gly)
1g.169552627A>GCA343128374F5c.1226T>C (p.Val409Ala)
c.815T>C (p.Val272Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.169552627A>TCA343128379F5c.1226T>A (p.Val409Glu)
c.815T>A (p.Val272Glu)
1g.169552628C>ACA343128415F5c.1225G>T (p.Val409Leu)
c.814G>T (p.Val272Leu)
1g.169552628C>GCA343128405F5c.1225G>C (p.Val409Leu)
c.814G>C (p.Val272Leu)
1g.169552628C>TCA343128398F5c.1225G>A (p.Val409Met)
c.814G>A (p.Val272Met)
1g.169552629T>ACA421732533F5c.1224A>T (p.Thr408=)
c.813A>T (p.Thr271=)
 gnomAD v4
1g.169552629T>CCA1234390F5c.1224A>G (p.Thr408=)
c.813A>G (p.Thr271=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552629T>GCA421732534F5c.1224A>C (p.Thr408=)
c.813A>C (p.Thr271=)
1g.169552629T=CA1206146848F5c.1224A= (p.Thr408=)
c.813A= (p.Thr271=)
1g.169552630G>ACA343128440F5c.1223C>T (p.Thr408Ile)
c.812C>T (p.Thr271Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.169552630G>CCA343128441F5c.1223C>G (p.Thr408Arg)
c.812C>G (p.Thr271Arg)
1g.169552630G=CA1206146850F5c.1223C= (p.Thr408=)
c.812C= (p.Thr271=)
1g.169552630G>TCA343128448F5c.1223C>A (p.Thr408Lys)
c.812C>A (p.Thr271Lys)
1g.169552631T>ACA343128453F5c.1222A>T (p.Thr408Ser)
c.811A>T (p.Thr271Ser)
1g.169552631T>CCA343128462F5c.1222A>G (p.Thr408Ala)
c.811A>G (p.Thr271Ala)
 gnomAD v4
1g.169552631T>GCA343128465F5c.1222A>C (p.Thr408Pro)
c.811A>C (p.Thr271Pro)
1g.169552632A=CA1206146852F5c.1221T= (p.His407=)
c.810T= (p.His270=)
1g.169552632A>CCA343128468F5c.1221T>G (p.His407Gln)
c.810T>G (p.His270Gln)
1g.169552632A>GCA421732535F5c.1221T>C (p.His407=)
c.810T>C (p.His270=)
 dbSNP
1g.169552632A>TCA343128475F5c.1221T>A (p.His407Gln)
c.810T>A (p.His270Gln)
1g.169552633T>ACA343128478F5c.1220A>T (p.His407Leu)
c.809A>T (p.His270Leu)
1g.169552633T>CCA343128482F5c.1220A>G (p.His407Arg)
c.809A>G (p.His270Arg)
1g.169552633T>GCA343128484F5c.1220A>C (p.His407Pro)
c.809A>C (p.His270Pro)

Number of alleles fetched