Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96144666G>ACA371749607GDF6c.1265C>T (p.Pro422Leu)
c.805C>T (p.Pro269Ser)
c.1014C>T (p.Ala338=)
c.866C>T (p.Pro289Leu)
8g.96144666G>CCA371749608GDF6c.1265C>G (p.Pro422Arg)
c.805C>G (p.Pro269Ala)
c.1014C>G (p.Ala338=)
c.866C>G (p.Pro289Arg)
8g.96144666G>TCA371749609GDF6c.1265C>A (p.Pro422His)
c.805C>A (p.Pro269Thr)
c.1014C>A (p.Ala338=)
c.866C>A (p.Pro289His)
 COSMIC
8g.96144667G>ACA371749610GDF6c.1264C>T (p.Pro422Ser)
c.804C>T (p.Cys268=)
c.1013C>T (p.Ala338Val)
c.865C>T (p.Pro289Ser)
 COSMIC
8g.96144667G>CCA371749612GDF6c.1264C>G (p.Pro422Ala)
c.804C>G (p.Cys268Trp)
c.1013C>G (p.Ala338Gly)
c.865C>G (p.Pro289Ala)
8g.96144667G>TCA371749611GDF6c.1264C>A (p.Pro422Thr)
c.804C>A (p.Cys268Ter)
c.1013C>A (p.Ala338Asp)
c.865C>A (p.Pro289Thr)
8g.96144668C>ACA371749613GDF6c.1263G>T (p.Val421=)
c.803G>T (p.Cys268Phe)
c.1012G>T (p.Ala338Ser)
c.864G>T (p.Val288=)
8g.96144668C>GCA371749614GDF6c.1263G>C (p.Val421=)
c.803G>C (p.Cys268Ser)
c.1012G>C (p.Ala338Pro)
c.864G>C (p.Val288=)
8g.96144668C>TCA371749615GDF6c.1263G>A (p.Val421=)
c.803G>A (p.Cys268Tyr)
c.1012G>A (p.Ala338Thr)
c.864G>A (p.Val288=)
 gnomAD v4
8g.96144669A>CCA371749616GDF6c.1262T>G (p.Val421Gly)
c.802T>G (p.Cys268Gly)
c.1011T>G (p.Arg337=)
c.863T>G (p.Val288Gly)
8g.96144669A>GCA371749617GDF6c.1262T>C (p.Val421Ala)
c.802T>C (p.Cys268Arg)
c.1011T>C (p.Arg337=)
c.863T>C (p.Val288Ala)
8g.96144669A>TCA371749618GDF6c.1262T>A (p.Val421Glu)
c.802T>A (p.Cys268Ser)
c.1011T>A (p.Arg337=)
c.863T>A (p.Val288Glu)
8g.96144670C>ACA371749619GDF6c.1261G>T (p.Val421Leu)
c.801G>T (p.Ala267=)
c.1010G>T (p.Arg337Leu)
c.862G>T (p.Val288Leu)
8g.96144670C=CA1804260705GDF6c.1261G= (p.Val421=)
c.801G= (p.Ala267=)
c.1010G= (p.Arg337=)
c.862G= (p.Val288=)
8g.96144670C>GCA371749620GDF6c.1261G>C (p.Val421Leu)
c.801G>C (p.Ala267=)
c.1010G>C (p.Arg337Pro)
c.862G>C (p.Val288Leu)
8g.96144670C>TCA371749621GDF6c.1261G>A (p.Val421Met)
c.801G>A (p.Ala267=)
c.1010G>A (p.Arg337His)
c.862G>A (p.Val288Met)
 dbSNP gnomAD v2 COSMIC
8g.96144671G>ACA4815348GDF6c.1260C>T (p.Cys420=)
c.800C>T (p.Ala267Val)
c.1009C>T (p.Arg337Cys)
c.861C>T (p.Cys287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96144671G>CCA371749622GDF6c.1260C>G (p.Cys420Trp)
c.800C>G (p.Ala267Gly)
c.1009C>G (p.Arg337Gly)
c.861C>G (p.Cys287Trp)
8g.96144671G=CA1804260712GDF6c.1260C= (p.Cys420=)
c.800C= (p.Ala267=)
c.1009C= (p.Arg337=)
c.861C= (p.Cys287=)
8g.96144671G>TCA371749623GDF6c.1260C>A (p.Cys420Ter)
c.800C>A (p.Ala267Glu)
c.1009C>A (p.Arg337Ser)
c.861C>A (p.Cys287Ter)
8g.96144672C>ACA371749624GDF6c.1259G>T (p.Cys420Phe)
c.799G>T (p.Ala267Ser)
c.1008G>T (p.Leu336=)
c.860G>T (p.Cys287Phe)
8g.96144672C>GCA371749626GDF6c.1259G>C (p.Cys420Ser)
c.799G>C (p.Ala267Pro)
c.1008G>C (p.Leu336=)
c.860G>C (p.Cys287Ser)
8g.96144672C>TCA371749625GDF6c.1259G>A (p.Cys420Tyr)
c.799G>A (p.Ala267Thr)
c.1008G>A (p.Leu336=)
c.860G>A (p.Cys287Tyr)
8g.96144673A>CCA371749627GDF6c.1258T>G (p.Cys420Gly)
c.798T>G (p.Ala266=)
c.1007T>G (p.Leu336Arg)
c.859T>G (p.Cys287Gly)
8g.96144673A>GCA371749628GDF6c.1258T>C (p.Cys420Arg)
c.798T>C (p.Ala266=)
c.1007T>C (p.Leu336Pro)
c.859T>C (p.Cys287Arg)
8g.96144673A>TCA371749629GDF6c.1258T>A (p.Cys420Ser)
c.798T>A (p.Ala266=)
c.1007T>A (p.Leu336Gln)
c.859T>A (p.Cys287Ser)
8g.96144674G>ACA371749630GDF6c.1257C>T (p.Cys419=)
c.797C>T (p.Ala266Val)
c.1006C>T (p.Leu336=)
c.858C>T (p.Cys286=)
8g.96144674G>CCA371749631GDF6c.1257C>G (p.Cys419Trp)
c.797C>G (p.Ala266Gly)
c.1006C>G (p.Leu336Val)
c.858C>G (p.Cys286Trp)
8g.96144674G>TCA371749632GDF6c.1257C>A (p.Cys419Ter)
c.797C>A (p.Ala266Asp)
c.1006C>A (p.Leu336Met)
c.858C>A (p.Cys286Ter)
8g.96144675C>ACA371749633GDF6c.1256G>T (p.Cys419Phe)
c.796G>T (p.Ala266Ser)
c.1005G>T (p.Leu335=)
c.857G>T (p.Cys286Phe)
8g.96144675C>GCA371749634GDF6c.1256G>C (p.Cys419Ser)
c.796G>C (p.Ala266Pro)
c.1005G>C (p.Leu335=)
c.857G>C (p.Cys286Ser)
8g.96144675C>TCA371749635GDF6c.1256G>A (p.Cys419Tyr)
c.796G>A (p.Ala266Thr)
c.1005G>A (p.Leu335=)
c.857G>A (p.Cys286Tyr)
 COSMIC
8g.96144676A>CCA371749636GDF6c.1255T>G (p.Cys419Gly)
c.795T>G (p.Ala265=)
c.1004T>G (p.Leu335Arg)
c.856T>G (p.Cys286Gly)
8g.96144676A>GCA371749637GDF6c.1255T>C (p.Cys419Arg)
c.795T>C (p.Ala265=)
c.1004T>C (p.Leu335Pro)
c.856T>C (p.Cys286Arg)
8g.96144676A>TCA371749638GDF6c.1255T>A (p.Cys419Ser)
c.795T>A (p.Ala265=)
c.1004T>A (p.Leu335Gln)
c.856T>A (p.Cys286Ser)
8g.96144677G>ACA371749641GDF6c.1254C>T (p.Ser418=)
c.794C>T (p.Ala265Val)
c.1003C>T (p.Leu335=)
c.855C>T (p.Ser285=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96144677G>CCA371749640GDF6c.1254C>G (p.Ser418Arg)
c.794C>G (p.Ala265Gly)
c.1003C>G (p.Leu335Val)
c.855C>G (p.Ser285Arg)
8g.96144677G=CA1804260714GDF6c.1254C= (p.Ser418=)
c.794C= (p.Ala265=)
c.1003C= (p.Leu335=)
c.855C= (p.Ser285=)
8g.96144677G>TCA371749639GDF6c.1254C>A (p.Ser418Arg)
c.794C>A (p.Ala265Asp)
c.1003C>A (p.Leu335Met)
c.855C>A (p.Ser285Arg)
 COSMIC
8g.96144678C>ACA371749642GDF6c.1253G>T (p.Ser418Ile)
c.794-1G>T (n.794-1G>T)
c.1002G>T (p.Gln334His)
c.854G>T (p.Ser285Ile)
8g.96144678C=CA1804260718GDF6c.1253G= (p.Ser418=)
c.794-1G= (n.794-1G=)
c.1002G= (p.Gln334=)
c.854G= (p.Ser285=)
8g.96144678C>GCA371749643GDF6c.1253G>C (p.Ser418Thr)
c.794-1G>C (n.794-1G>C)
c.1002G>C (p.Gln334His)
c.854G>C (p.Ser285Thr)
8g.96144678C>TCA371749644GDF6c.1253G>A (p.Ser418Asn)
c.794-1G>A (n.794-1G>A)
c.1002G>A (p.Gln334=)
c.854G>A (p.Ser285Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96144679T>ACA371749645GDF6c.1252A>T (p.Ser418Cys)
c.794-2A>T (n.794-2A>T)
c.1001A>T (p.Gln334Leu)
c.853A>T (p.Ser285Cys)
8g.96144679T>CCA371749646GDF6c.1252A>G (p.Ser418Gly)
c.794-2A>G (n.794-2A>G)
c.1001A>G (p.Gln334Arg)
c.853A>G (p.Ser285Gly)
 dbSNP
8g.96144679T>GCA371749648GDF6c.1252A>C (p.Ser418Arg)
c.794-2A>C (n.794-2A>C)
c.1001A>C (p.Gln334Pro)
c.853A>C (p.Ser285Arg)
8g.96144679T=CA1804260722GDF6c.1252A= (p.Ser418=)
c.794-2A= (n.794-2A=)
c.1001A= (p.Gln334=)
c.853A= (p.Ser285=)
8g.96144680G>ACA4815349GDF6c.1251C>T (p.Pro417=)
c.794-3C>T (n.794-3C>T)
c.1000C>T (p.Gln334Ter)
c.852C>T (p.Pro284=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96144680G>CCA371749651GDF6c.1251C>G (p.Pro417=)
c.794-3C>G (n.794-3C>G)
c.1000C>G (p.Gln334Glu)
c.852C>G (p.Pro284=)
8g.96144680G=CA1804260727GDF6c.1251C= (p.Pro417=)
c.794-3C= (n.794-3C=)
c.1000C= (p.Gln334=)
c.852C= (p.Pro284=)
8g.96144680G>TCA371749652GDF6c.1251C>A (p.Pro417=)
c.794-3C>A (n.794-3C>A)
c.1000C>A (p.Gln334Lys)
c.852C>A (p.Pro284=)
8g.96144681G>ACA371749656GDF6c.1250C>T (p.Pro417Leu)
c.794-4C>T (n.794-4C>T)
c.999C>T (p.Ala333=)
c.851C>T (p.Pro284Leu)
8g.96144681G>CCA371749657GDF6c.1250C>G (p.Pro417Arg)
c.794-4C>G (n.794-4C>G)
c.999C>G (p.Ala333=)
c.851C>G (p.Pro284Arg)
8g.96144681G>TCA371749659GDF6c.1250C>A (p.Pro417His)
c.794-4C>A (n.794-4C>A)
c.999C>A (p.Ala333=)
c.851C>A (p.Pro284His)
8g.96144682G>ACA371749668GDF6c.1249C>T (p.Pro417Ser)
c.794-5C>T (n.794-5C>T)
c.998C>T (p.Ala333Val)
c.850C>T (p.Pro284Ser)
 gnomAD v4
8g.96144682G>CCA371749664GDF6c.1249C>G (p.Pro417Ala)
c.794-5C>G (n.794-5C>G)
c.998C>G (p.Ala333Gly)
c.850C>G (p.Pro284Ala)
8g.96144682G>TCA371749666GDF6c.1249C>A (p.Pro417Thr)
c.794-5C>A (n.794-5C>A)
c.998C>A (p.Ala333Asp)
c.850C>A (p.Pro284Thr)
8g.96144683C>ACA371749671GDF6c.1248G>T (p.Pro416=)
c.794-6G>T (n.794-6G>T)
c.997G>T (p.Ala333Ser)
c.849G>T (p.Pro283=)
 ClinVar gnomAD v4
8g.96144683C=CA1804260740GDF6c.1248G= (p.Pro416=)
c.794-6G= (n.794-6G=)
c.997G= (p.Ala333=)
c.849G= (p.Pro283=)
8g.96144683C>GCA371749673GDF6c.1248G>C (p.Pro416=)
c.794-6G>C (n.794-6G>C)
c.997G>C (p.Ala333Pro)
c.849G>C (p.Pro283=)
 dbSNP gnomAD v3 gnomAD v4
8g.96144683C>TCA371749674GDF6c.1248G>A (p.Pro416=)
c.794-6G>A (n.794-6G>A)
c.997G>A (p.Ala333Thr)
c.849G>A (p.Pro283=)
 dbSNP gnomAD v3 gnomAD v4
8g.96144684G>ACA4815350GDF6c.1247C>T (p.Pro416Leu)
c.794-7C>T (n.794-7C>T)
c.996C>T (p.Pro332=)
c.848C>T (p.Pro283Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96144684G>CCA371749678GDF6c.1247C>G (p.Pro416Arg)
c.794-7C>G (n.794-7C>G)
c.996C>G (p.Pro332=)
c.848C>G (p.Pro283Arg)
8g.96144684G=CA1804260747GDF6c.1247C= (p.Pro416=)
c.794-7C= (n.794-7C=)
c.996C= (p.Pro332=)
c.848C= (p.Pro283=)
8g.96144684G>TCA371749681GDF6c.1247C>A (p.Pro416Gln)
c.794-7C>A (n.794-7C>A)
c.996C>A (p.Pro332=)
c.848C>A (p.Pro283Gln)
8g.96144685G>ACA371749687GDF6c.1246C>T (p.Pro416Ser)
c.794-8C>T (n.794-8C>T)
c.995C>T (p.Pro332Leu)
c.847C>T (p.Pro283Ser)
8g.96144685G>CCA371749685GDF6c.1246C>G (p.Pro416Ala)
c.794-8C>G (n.794-8C>G)
c.995C>G (p.Pro332Arg)
c.847C>G (p.Pro283Ala)
8g.96144685G>TCA371749683GDF6c.1246C>A (p.Pro416Thr)
c.794-8C>A (n.794-8C>A)
c.995C>A (p.Pro332His)
c.847C>A (p.Pro283Thr)
8g.96144686G>ACA371749690GDF6c.1245C>T (p.Thr415=)
c.794-9C>T (n.794-9C>T)
c.994C>T (p.Pro332Ser)
c.846C>T (p.Thr282=)
8g.96144686G>CCA371749692GDF6c.1245C>G (p.Thr415=)
c.794-9C>G (n.794-9C>G)
c.994C>G (p.Pro332Ala)
c.846C>G (p.Thr282=)
 dbSNP gnomAD v2 gnomAD v4
8g.96144686G=CA1804260755GDF6c.1245C= (p.Thr415=)
c.794-9C= (n.794-9C=)
c.994C= (p.Pro332=)
c.846C= (p.Thr282=)
8g.96144686G>TCA371749694GDF6c.1245C>A (p.Thr415=)
c.794-9C>A (n.794-9C>A)
c.994C>A (p.Pro332Thr)
c.846C>A (p.Thr282=)
8g.96144687G>ACA371749697GDF6c.1244C>T (p.Thr415Ile)
c.794-10C>T (n.794-10C>T)
c.993C>T (p.His331=)
c.845C>T (p.Thr282Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96144687G>CCA371749698GDF6c.1244C>G (p.Thr415Ser)
c.794-10C>G (n.794-10C>G)
c.993C>G (p.His331Gln)
c.845C>G (p.Thr282Ser)
8g.96144687G=CA1804260760GDF6c.1244C= (p.Thr415=)
c.794-10C= (n.794-10C=)
c.993C= (p.His331=)
c.845C= (p.Thr282=)
8g.96144687G>TCA371749700GDF6c.1244C>A (p.Thr415Asn)
c.794-10C>A (n.794-10C>A)
c.993C>A (p.His331Gln)
c.845C>A (p.Thr282Asn)
 dbSNP gnomAD v3 gnomAD v4
8g.96144688T>ACA371749703GDF6c.1243A>T (p.Thr415Ser)
c.794-11A>T (n.794-11A>T)
c.992A>T (p.His331Leu)
c.844A>T (p.Thr282Ser)
8g.96144688T>CCA181485019GDF6c.1243A>G (p.Thr415Ala)
c.794-11A>G (n.794-11A>G)
c.992A>G (p.His331Arg)
c.844A>G (p.Thr282Ala)
 dbSNP gnomAD v2
8g.96144688T>GCA371749705GDF6c.1243A>C (p.Thr415Pro)
c.794-11A>C (n.794-11A>C)
c.992A>C (p.His331Pro)
c.844A>C (p.Thr282Pro)
 dbSNP
8g.96144688T=CA1804260765GDF6c.1243A= (p.Thr415=)
c.794-11A= (n.794-11A=)
c.992A= (p.His331=)
c.844A= (p.Thr282=)
8g.96144689G>ACA371749707GDF6c.1242C>T (p.Ser414=)
c.794-12C>T (n.794-12C>T)
c.991C>T (p.His331Tyr)
c.843C>T (p.Ser281=)
 ClinVar dbSNP
8g.96144689G>CCA371749709GDF6c.1242C>G (p.Ser414=)
c.794-12C>G (n.794-12C>G)
c.991C>G (p.His331Asp)
c.843C>G (p.Ser281=)
8g.96144689G=CA1804260769GDF6c.1242C= (p.Ser414=)
c.794-12C= (n.794-12C=)
c.991C= (p.His331=)
c.843C= (p.Ser281=)
8g.96144689G>TCA371749710GDF6c.1242C>A (p.Ser414=)
c.794-12C>A (n.794-12C>A)
c.991C>A (p.His331Asn)
c.843C>A (p.Ser281=)
8g.96144690G>ACA371749713GDF6c.1241C>T (p.Ser414Phe)
c.794-13C>T (n.794-13C>T)
c.990C>T (p.Leu330=)
c.842C>T (p.Ser281Phe)
8g.96144690G>CCA371749714GDF6c.1241C>G (p.Ser414Cys)
c.794-13C>G (n.794-13C>G)
c.990C>G (p.Leu330=)
c.842C>G (p.Ser281Cys)
8g.96144690G>TCA371749717GDF6c.1241C>A (p.Ser414Tyr)
c.794-13C>A (n.794-13C>A)
c.990C>A (p.Leu330=)
c.842C>A (p.Ser281Tyr)
8g.96144691A>CCA371749719GDF6c.1240T>G (p.Ser414Ala)
c.794-14T>G (n.794-14T>G)
c.989T>G (p.Leu330Arg)
c.841T>G (p.Ser281Ala)
8g.96144691A>GCA371749720GDF6c.1240T>C (p.Ser414Pro)
c.794-14T>C (n.794-14T>C)
c.989T>C (p.Leu330Pro)
c.841T>C (p.Ser281Pro)
8g.96144691A>TCA371749721GDF6c.1240T>A (p.Ser414Thr)
c.794-14T>A (n.794-14T>A)
c.989T>A (p.Leu330His)
c.841T>A (p.Ser281Thr)
8g.96144692G>ACA371749723GDF6c.1239C>T (p.Gly413=)
c.794-15C>T (n.794-15C>T)
c.988C>T (p.Leu330Phe)
c.840C>T (p.Gly280=)
8g.96144692G>CCA371749724GDF6c.1239C>G (p.Gly413=)
c.794-15C>G (n.794-15C>G)
c.988C>G (p.Leu330Val)
c.840C>G (p.Gly280=)
8g.96144692G>TCA371749726GDF6c.1239C>A (p.Gly413=)
c.794-15C>A (n.794-15C>A)
c.988C>A (p.Leu330Ile)
c.840C>A (p.Gly280=)
8g.96144693C>ACA371749731GDF6c.1238G>T (p.Gly413Val)
c.794-16G>T (n.794-16G>T)
c.987G>T (p.Arg329=)
c.839G>T (p.Gly280Val)
8g.96144693C>GCA371749728GDF6c.1238G>C (p.Gly413Ala)
c.794-16G>C (n.794-16G>C)
c.987G>C (p.Arg329=)
c.839G>C (p.Gly280Ala)
8g.96144693C>TCA371749729GDF6c.1238G>A (p.Gly413Asp)
c.794-16G>A (n.794-16G>A)
c.987G>A (p.Arg329=)
c.839G>A (p.Gly280Asp)
 gnomAD v4
8g.96144694C>ACA371749732GDF6c.1237G>T (p.Gly413Cys)
c.794-17G>T (n.794-17G>T)
c.986G>T (p.Arg329Leu)
c.838G>T (p.Gly280Cys)
8g.96144694C=CA1804260774GDF6c.1237G= (p.Gly413=)
c.794-17G= (n.794-17G=)
c.986G= (p.Arg329=)
c.838G= (p.Gly280=)
8g.96144694C>GCA371749734GDF6c.1237G>C (p.Gly413Arg)
c.794-17G>C (n.794-17G>C)
c.986G>C (p.Arg329Pro)
c.838G>C (p.Gly280Arg)
8g.96144694C>TCA181485020GDF6c.1237G>A (p.Gly413Ser)
c.794-17G>A (n.794-17G>A)
c.986G>A (p.Arg329Gln)
c.838G>A (p.Gly280Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96144695G>ACA371749736GDF6c.1236C>T (p.Pro412=)
c.794-18C>T (n.794-18C>T)
c.985C>T (p.Arg329Trp)
c.837C>T (p.Pro279=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.96144695G>CCA371749738GDF6c.1236C>G (p.Pro412=)
c.794-18C>G (n.794-18C>G)
c.985C>G (p.Arg329Gly)
c.837C>G (p.Pro279=)
8g.96144695G=CA1804260781GDF6c.1236C= (p.Pro412=)
c.794-18C= (n.794-18C=)
c.985C= (p.Arg329=)
c.837C= (p.Pro279=)
8g.96144695G>TCA462455048GDF6c.1236C>A (p.Pro412=)
c.794-18C>A (n.794-18C>A)
c.985C>A (p.Arg329=)
c.837C>A (p.Pro279=)
 dbSNP gnomAD v2
8g.96144696G>ACA371749743GDF6c.1235C>T (p.Pro412Leu)
c.794-19C>T (n.794-19C>T)
c.984C>T (p.Pro328=)
c.836C>T (p.Pro279Leu)
8g.96144696G>CCA371749742GDF6c.1235C>G (p.Pro412Arg)
c.794-19C>G (n.794-19C>G)
c.984C>G (p.Pro328=)
c.836C>G (p.Pro279Arg)
8g.96144696G>TCA371749740GDF6c.1235C>A (p.Pro412His)
c.794-19C>A (n.794-19C>A)
c.984C>A (p.Pro328=)
c.836C>A (p.Pro279His)
8g.96144697G>ACA371749745GDF6c.1234C>T (p.Pro412Ser)
c.794-20C>T (n.794-20C>T)
c.983C>T (p.Pro328Leu)
c.835C>T (p.Pro279Ser)
 COSMIC
8g.96144697G>CCA371749747GDF6c.1234C>G (p.Pro412Ala)
c.794-20C>G (n.794-20C>G)
c.983C>G (p.Pro328Arg)
c.835C>G (p.Pro279Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.96144697G=CA1804260788GDF6c.1234C= (p.Pro412=)
c.794-20C= (n.794-20C=)
c.983C= (p.Pro328=)
c.835C= (p.Pro279=)
8g.96144697G>TCA371749749GDF6c.1234C>A (p.Pro412Thr)
c.794-20C>A (n.794-20C>A)
c.983C>A (p.Pro328His)
c.835C>A (p.Pro279Thr)
8g.96144698G>ACA4815351GDF6c.1233C>T (p.Asp411=)
c.794-21C>T (n.794-21C>T)
c.982C>T (p.Pro328Ser)
c.834C>T (p.Asp278=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96144698G>CCA371749751GDF6c.1233C>G (p.Asp411Glu)
c.794-21C>G (n.794-21C>G)
c.982C>G (p.Pro328Ala)
c.834C>G (p.Asp278Glu)
8g.96144698G=CA1804260795GDF6c.1233C= (p.Asp411=)
c.794-21C= (n.794-21C=)
c.982C= (p.Pro328=)
c.834C= (p.Asp278=)
8g.96144698G>TCA371749753GDF6c.1233C>A (p.Asp411Glu)
c.794-21C>A (n.794-21C>A)
c.982C>A (p.Pro328Thr)
c.834C>A (p.Asp278Glu)
 dbSNP
8g.96144699T>ACA371749759GDF6c.1232A>T (p.Asp411Val)
c.794-22A>T (n.794-22A>T)
c.981A>T (p.Gly327=)
c.833A>T (p.Asp278Val)
8g.96144699T>CCA371749755GDF6c.1232A>G (p.Asp411Gly)
c.794-22A>G (n.794-22A>G)
c.981A>G (p.Gly327=)
c.833A>G (p.Asp278Gly)
 gnomAD v4
8g.96144699T>GCA371749757GDF6c.1232A>C (p.Asp411Ala)
c.794-22A>C (n.794-22A>C)
c.981A>C (p.Gly327=)
c.833A>C (p.Asp278Ala)
8g.96144700C>ACA371749762GDF6c.1231G>T (p.Asp411Tyr)
c.794-23G>T (n.794-23G>T)
c.980G>T (p.Gly327Val)
c.832G>T (p.Asp278Tyr)
8g.96144700C=CA1804260799GDF6c.1231G= (p.Asp411=)
c.794-23G= (n.794-23G=)
c.980G= (p.Gly327=)
c.832G= (p.Asp278=)
8g.96144700C>GCA371749764GDF6c.1231G>C (p.Asp411His)
c.794-23G>C (n.794-23G>C)
c.980G>C (p.Gly327Ala)
c.832G>C (p.Asp278His)
8g.96144700C>TCA371749766GDF6c.1231G>A (p.Asp411Asn)
c.794-23G>A (n.794-23G>A)
c.980G>A (p.Gly327Glu)
c.832G>A (p.Asp278Asn)
 dbSNP
8g.96144701C>ACA371749768GDF6c.1230G>T (p.Met410Ile)
c.794-24G>T (n.794-24G>T)
c.979G>T (p.Gly327Ter)
c.831G>T (p.Met277Ile)
8g.96144701C=CA1804260804GDF6c.1230G= (p.Met410=)
c.794-24G= (n.794-24G=)
c.979G= (p.Gly327=)
c.831G= (p.Met277=)
8g.96144701C>GCA4815352GDF6c.1230G>C (p.Met410Ile)
c.794-24G>C (n.794-24G>C)
c.979G>C (p.Gly327Arg)
c.831G>C (p.Met277Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96144701C>TCA371749771GDF6c.1230G>A (p.Met410Ile)
c.794-24G>A (n.794-24G>A)
c.979G>A (p.Gly327Arg)
c.831G>A (p.Met277Ile)
 gnomAD v4
8g.96144702A=CA1804260812GDF6c.1229T= (p.Met410=)
c.794-25T= (n.794-25T=)
c.978T= (p.His326=)
c.830T= (p.Met277=)
8g.96144702A>CCA371749773GDF6c.1229T>G (p.Met410Arg)
c.794-25T>G (n.794-25T>G)
c.978T>G (p.His326Gln)
c.830T>G (p.Met277Arg)
 ClinVar dbSNP gnomAD v4
8g.96144702A>GCA371749775GDF6c.1229T>C (p.Met410Thr)
c.794-25T>C (n.794-25T>C)
c.978T>C (p.His326=)
c.830T>C (p.Met277Thr)
8g.96144702A>TCA371749777GDF6c.1229T>A (p.Met410Lys)
c.794-25T>A (n.794-25T>A)
c.978T>A (p.His326Gln)
c.830T>A (p.Met277Lys)
 dbSNP
8g.96144703T>ACA371749779GDF6c.1228A>T (p.Met410Leu)
c.794-26A>T (n.794-26A>T)
c.977A>T (p.His326Leu)
c.829A>T (p.Met277Leu)
8g.96144703T>CCA371749781GDF6c.1228A>G (p.Met410Val)
c.794-26A>G (n.794-26A>G)
c.977A>G (p.His326Arg)
c.829A>G (p.Met277Val)
 gnomAD v4
8g.96144703T>GCA371749783GDF6c.1228A>C (p.Met410Leu)
c.794-26A>C (n.794-26A>C)
c.977A>C (p.His326Pro)
c.829A>C (p.Met277Leu)
8g.96144704G>ACA371749790GDF6c.1227C>T (p.Ser409=)
c.794-27C>T (n.794-27C>T)
c.976C>T (p.His326Tyr)
c.828C>T (p.Ser276=)
 COSMIC
8g.96144704G>CCA371749786GDF6c.1227C>G (p.Ser409=)
c.794-27C>G (n.794-27C>G)
c.976C>G (p.His326Asp)
c.828C>G (p.Ser276=)
8g.96144704G>TCA371749788GDF6c.1227C>A (p.Ser409=)
c.794-27C>A (n.794-27C>A)
c.976C>A (p.His326Asn)
c.828C>A (p.Ser276=)
8g.96144705G>ACA371749792GDF6c.1226C>T (p.Ser409Phe)
c.794-28C>T (n.794-28C>T)
c.975C>T (p.Leu325=)
c.827C>T (p.Ser276Phe)
8g.96144705G>CCA371749795GDF6c.1226C>G (p.Ser409Cys)
c.794-28C>G (n.794-28C>G)
c.975C>G (p.Leu325=)
c.827C>G (p.Ser276Cys)
8g.96144705G>TCA371749797GDF6c.1226C>A (p.Ser409Tyr)
c.794-28C>A (n.794-28C>A)
c.975C>A (p.Leu325=)
c.827C>A (p.Ser276Tyr)
8g.96144706A>CCA371749799GDF6c.1225T>G (p.Ser409Ala)
c.794-29T>G (n.794-29T>G)
c.974T>G (p.Leu325Arg)
c.826T>G (p.Ser276Ala)
8g.96144706A>GCA371749801GDF6c.1225T>C (p.Ser409Pro)
c.794-29T>C (n.794-29T>C)
c.974T>C (p.Leu325Pro)
c.826T>C (p.Ser276Pro)
8g.96144706A>TCA371749803GDF6c.1225T>A (p.Ser409Thr)
c.794-29T>A (n.794-29T>A)
c.974T>A (p.Leu325His)
c.826T>A (p.Ser276Thr)
8g.96144707G>ACA371749808GDF6c.1224C>T (p.Asn408=)
c.794-30C>T (n.794-30C>T)
c.973C>T (p.Leu325Phe)
c.825C>T (p.Asn275=)
8g.96144707G>CCA371749807GDF6c.1224C>G (p.Asn408Lys)
c.794-30C>G (n.794-30C>G)
c.973C>G (p.Leu325Val)
c.825C>G (p.Asn275Lys)
8g.96144707G>TCA371749805GDF6c.1224C>A (p.Asn408Lys)
c.794-30C>A (n.794-30C>A)
c.973C>A (p.Leu325Ile)
c.825C>A (p.Asn275Lys)
8g.96144708T>ACA371749811GDF6c.1223A>T (p.Asn408Ile)
c.794-31A>T (n.794-31A>T)
c.972A>T (p.Glu324Asp)
c.824A>T (p.Asn275Ile)
8g.96144708T>CCA371749812GDF6c.1223A>G (p.Asn408Ser)
c.794-31A>G (n.794-31A>G)
c.972A>G (p.Glu324=)
c.824A>G (p.Asn275Ser)
8g.96144708T>GCA371749813GDF6c.1223A>C (p.Asn408Thr)
c.794-31A>C (n.794-31A>C)
c.972A>C (p.Glu324Asp)
c.824A>C (p.Asn275Thr)
8g.96144709T>ACA371749815GDF6c.1222A>T (p.Asn408Tyr)
c.794-32A>T (n.794-32A>T)
c.971A>T (p.Glu324Val)
c.823A>T (p.Asn275Tyr)
 gnomAD v4
8g.96144709T>CCA371749817GDF6c.1222A>G (p.Asn408Asp)
c.794-32A>G (n.794-32A>G)
c.971A>G (p.Glu324Gly)
c.823A>G (p.Asn275Asp)
8g.96144709T>GCA371749819GDF6c.1222A>C (p.Asn408His)
c.794-32A>C (n.794-32A>C)
c.971A>C (p.Glu324Ala)
c.823A>C (p.Asn275His)
8g.96144710C>ACA371749821GDF6c.1221G>T (p.Met407Ile)
c.794-33G>T (n.794-33G>T)
c.970G>T (p.Glu324Ter)
c.822G>T (p.Met274Ile)
 gnomAD v4 COSMIC
8g.96144710C>GCA371749824GDF6c.1221G>C (p.Met407Ile)
c.794-33G>C (n.794-33G>C)
c.970G>C (p.Glu324Gln)
c.822G>C (p.Met274Ile)
8g.96144710C>TCA371749823GDF6c.1221G>A (p.Met407Ile)
c.794-33G>A (n.794-33G>A)
c.970G>A (p.Glu324Lys)
c.822G>A (p.Met274Ile)
 COSMIC
8g.96144711A>CCA371749826GDF6c.1220T>G (p.Met407Arg)
c.794-34T>G (n.794-34T>G)
c.969T>G (p.Asp323Glu)
c.821T>G (p.Met274Arg)
8g.96144711A>GCA371749828GDF6c.1220T>C (p.Met407Thr)
c.794-34T>C (n.794-34T>C)
c.969T>C (p.Asp323=)
c.821T>C (p.Met274Thr)
8g.96144711A>TCA371749830GDF6c.1220T>A (p.Met407Lys)
c.794-34T>A (n.794-34T>A)
c.969T>A (p.Asp323Glu)
c.821T>A (p.Met274Lys)
8g.96144712T>ACA371749833GDF6c.1219A>T (p.Met407Leu)
c.794-35A>T (n.794-35A>T)
c.968A>T (p.Asp323Val)
c.820A>T (p.Met274Leu)
8g.96144712T>CCA371749834GDF6c.1219A>G (p.Met407Val)
c.794-35A>G (n.794-35A>G)
c.968A>G (p.Asp323Gly)
c.820A>G (p.Met274Val)
8g.96144712T>GCA371749836GDF6c.1219A>C (p.Met407Leu)
c.794-35A>C (n.794-35A>C)
c.968A>C (p.Asp323Ala)
c.820A>C (p.Met274Leu)
8g.96144713C>ACA371749837GDF6c.1218G>T (p.Leu406=)
c.794-36G>T (n.794-36G>T)
c.967G>T (p.Asp323Tyr)
c.819G>T (p.Leu273=)
8g.96144713C>GCA371749838GDF6c.1218G>C (p.Leu406=)
c.794-36G>C (n.794-36G>C)
c.967G>C (p.Asp323His)
c.819G>C (p.Leu273=)
 gnomAD v4
8g.96144713C>TCA371749839GDF6c.1218G>A (p.Leu406=)
c.794-36G>A (n.794-36G>A)
c.967G>A (p.Asp323Asn)
c.819G>A (p.Leu273=)
 COSMIC
8g.96144714A>CCA371749840GDF6c.1217T>G (p.Leu406Arg)
c.794-37T>G (n.794-37T>G)
c.966T>G (p.Ala322=)
c.818T>G (p.Leu273Arg)
8g.96144714A>GCA371749841GDF6c.1217T>C (p.Leu406Pro)
c.794-37T>C (n.794-37T>C)
c.966T>C (p.Ala322=)
c.818T>C (p.Leu273Pro)
8g.96144714A>TCA371749842GDF6c.1217T>A (p.Leu406Gln)
c.794-37T>A (n.794-37T>A)
c.966T>A (p.Ala322=)
c.818T>A (p.Leu273Gln)
8g.96144715G>ACA371749845GDF6c.1216C>T (p.Leu406=)
c.794-38C>T (n.794-38C>T)
c.965C>T (p.Ala322Val)
c.817C>T (p.Leu273=)
8g.96144715G>CCA371749848GDF6c.1216C>G (p.Leu406Val)
c.794-38C>G (n.794-38C>G)
c.965C>G (p.Ala322Gly)
c.817C>G (p.Leu273Val)
 dbSNP
8g.96144715G>TCA371749846GDF6c.1216C>A (p.Leu406Met)
c.794-38C>A (n.794-38C>A)
c.965C>A (p.Ala322Asp)
c.817C>A (p.Leu273Met)
8g.96144716C>ACA371749851GDF6c.1215G>T (p.Thr405=)
c.794-39G>T (n.794-39G>T)
c.964G>T (p.Ala322Ser)
c.816G>T (p.Thr272=)
8g.96144716C>GCA371749853GDF6c.1215G>C (p.Thr405=)
c.794-39G>C (n.794-39G>C)
c.964G>C (p.Ala322Pro)
c.816G>C (p.Thr272=)
 gnomAD v4
8g.96144716C>TCA371749855GDF6c.1215G>A (p.Thr405=)
c.794-39G>A (n.794-39G>A)
c.964G>A (p.Ala322Thr)
c.816G>A (p.Thr272=)
 COSMIC
8g.96144717G>ACA371749856GDF6c.1214C>T (p.Thr405Met)
c.794-40C>T (n.794-40C>T)
c.963C>T (p.Asp321=)
c.815C>T (p.Thr272Met)
 ClinVar dbSNP gnomAD v4 COSMIC
8g.96144717G>CCA371749857GDF6c.1214C>G (p.Thr405Arg)
c.794-40C>G (n.794-40C>G)
c.963C>G (p.Asp321Glu)
c.815C>G (p.Thr272Arg)
8g.96144717G=CA1804260817GDF6c.1214C= (p.Thr405=)
c.794-40C= (n.794-40C=)
c.963C= (p.Asp321=)
c.815C= (p.Thr272=)
8g.96144717G>TCA371749858GDF6c.1214C>A (p.Thr405Lys)
c.794-40C>A (n.794-40C>A)
c.963C>A (p.Asp321Glu)
c.815C>A (p.Thr272Lys)
8g.96144718T>ACA371749859GDF6c.1213A>T (p.Thr405Ser)
c.794-41A>T (n.794-41A>T)
c.962A>T (p.Asp321Val)
c.814A>T (p.Thr272Ser)
8g.96144718T>CCA371749860GDF6c.1213A>G (p.Thr405Ala)
c.794-41A>G (n.794-41A>G)
c.962A>G (p.Asp321Gly)
c.814A>G (p.Thr272Ala)
8g.96144718T>GCA371749862GDF6c.1213A>C (p.Thr405Pro)
c.794-41A>C (n.794-41A>C)
c.962A>C (p.Asp321Ala)
c.814A>C (p.Thr272Pro)
8g.96144719C>ACA371749864GDF6c.1212G>T (p.Gln404His)
c.794-42G>T (n.794-42G>T)
c.961G>T (p.Asp321Tyr)
c.813G>T (p.Gln271His)
8g.96144719C=CA1804260828GDF6c.1212G= (p.Gln404=)
c.794-42G= (n.794-42G=)
c.961G= (p.Asp321=)
c.813G= (p.Gln271=)
8g.96144719C>GCA371749866GDF6c.1212G>C (p.Gln404His)
c.794-42G>C (n.794-42G>C)
c.961G>C (p.Asp321His)
c.813G>C (p.Gln271His)
8g.96144719C>TCA371749867GDF6c.1212G>A (p.Gln404=)
c.794-42G>A (n.794-42G>A)
c.961G>A (p.Asp321Asn)
c.813G>A (p.Gln271=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96144720T>ACA371749873GDF6c.1211A>T (p.Gln404Leu)
c.794-43A>T (n.794-43A>T)
c.960A>T (p.Pro320=)
c.812A>T (p.Gln271Leu)
8g.96144720T>CCA371749871GDF6c.1211A>G (p.Gln404Arg)
c.794-43A>G (n.794-43A>G)
c.960A>G (p.Pro320=)
c.812A>G (p.Gln271Arg)
8g.96144720T>GCA371749869GDF6c.1211A>C (p.Gln404Pro)
c.794-43A>C (n.794-43A>C)
c.960A>C (p.Pro320=)
c.812A>C (p.Gln271Pro)
8g.96144721G>ACA371749876GDF6c.1210C>T (p.Gln404Ter)
c.794-44C>T (n.794-44C>T)
c.959C>T (p.Pro320Leu)
c.811C>T (p.Gln271Ter)
8g.96144721G>CCA371749877GDF6c.1210C>G (p.Gln404Glu)
c.794-44C>G (n.794-44C>G)
c.959C>G (p.Pro320Arg)
c.811C>G (p.Gln271Glu)
8g.96144721G>TCA371749880GDF6c.1210C>A (p.Gln404Lys)
c.794-44C>A (n.794-44C>A)
c.959C>A (p.Pro320Gln)
c.811C>A (p.Gln271Lys)
8g.96144722G>ACA371749882GDF6c.1209C>T (p.Ile403=)
c.794-45C>T (n.794-45C>T)
c.958C>T (p.Pro320Ser)
c.810C>T (p.Ile270=)
8g.96144722G>CCA371749884GDF6c.1209C>G (p.Ile403Met)
c.794-45C>G (n.794-45C>G)
c.958C>G (p.Pro320Ala)
c.810C>G (p.Ile270Met)
 gnomAD v4
8g.96144722G>TCA371749886GDF6c.1209C>A (p.Ile403=)
c.794-45C>A (n.794-45C>A)
c.958C>A (p.Pro320Thr)
c.810C>A (p.Ile270=)
8g.96144723A>CCA371749888GDF6c.1208T>G (p.Ile403Ser)
c.794-46T>G (n.794-46T>G)
c.957T>G (p.His319Gln)
c.809T>G (p.Ile270Ser)
8g.96144723A>GCA371749890GDF6c.1208T>C (p.Ile403Thr)
c.794-46T>C (n.794-46T>C)
c.957T>C (p.His319=)
c.809T>C (p.Ile270Thr)
 gnomAD v4
8g.96144723A>TCA371749892GDF6c.1208T>A (p.Ile403Asn)
c.794-46T>A (n.794-46T>A)
c.957T>A (p.His319Gln)
c.809T>A (p.Ile270Asn)
8g.96144724T>ACA371749893GDF6c.1207A>T (p.Ile403Phe)
c.794-47A>T (n.794-47A>T)
c.956A>T (p.His319Leu)
c.808A>T (p.Ile270Phe)
8g.96144724T>CCA371749895GDF6c.1207A>G (p.Ile403Val)
c.794-47A>G (n.794-47A>G)
c.956A>G (p.His319Arg)
c.808A>G (p.Ile270Val)
8g.96144724T>GCA371749897GDF6c.1207A>C (p.Ile403Leu)
c.794-47A>C (n.794-47A>C)
c.956A>C (p.His319Pro)
c.808A>C (p.Ile270Leu)
8g.96144725G>ACA371749898GDF6c.1206C>T (p.Ile402=)
c.794-48C>T (n.794-48C>T)
c.955C>T (p.His319Tyr)
c.807C>T (p.Ile269=)
8g.96144725G>CCA371749900GDF6c.1206C>G (p.Ile402Met)
c.794-48C>G (n.794-48C>G)
c.955C>G (p.His319Asp)
c.807C>G (p.Ile269Met)
8g.96144725G>TCA371749899GDF6c.1206C>A (p.Ile402=)
c.794-48C>A (n.794-48C>A)
c.955C>A (p.His319Asn)
c.807C>A (p.Ile269=)
8g.96144726A>CCA371749903GDF6c.1205T>G (p.Ile402Ser)
c.794-49T>G (n.794-49T>G)
c.954T>G (p.His318Gln)
c.806T>G (p.Ile269Ser)
8g.96144726A>GCA371749906GDF6c.1205T>C (p.Ile402Thr)
c.794-49T>C (n.794-49T>C)
c.954T>C (p.His318=)
c.806T>C (p.Ile269Thr)
 gnomAD v4
8g.96144726A>TCA371749904GDF6c.1205T>A (p.Ile402Asn)
c.794-49T>A (n.794-49T>A)
c.954T>A (p.His318Gln)
c.806T>A (p.Ile269Asn)
8g.96144727T>ACA371749908GDF6c.1204A>T (p.Ile402Phe)
c.794-50A>T (n.794-50A>T)
c.953A>T (p.His318Leu)
c.805A>T (p.Ile269Phe)
8g.96144727T>CCA371749910GDF6c.1204A>G (p.Ile402Val)
c.794-50A>G (n.794-50A>G)
c.953A>G (p.His318Arg)
c.805A>G (p.Ile269Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96144727T>GCA371749912GDF6c.1204A>C (p.Ile402Leu)
c.794-50A>C (n.794-50A>C)
c.953A>C (p.His318Pro)
c.805A>C (p.Ile269Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.96144727T=CA1804260832GDF6c.1204A= (p.Ile402=)
c.794-50A= (n.794-50A=)
c.953A= (p.His318=)
c.805A= (p.Ile269=)
8g.96144728G>ACA371749914GDF6c.1203C>T (p.Ala401=)
c.794-51C>T (n.794-51C>T)
c.952C>T (p.His318Tyr)
c.804C>T (p.Ala268=)
8g.96144728G>CCA371749916GDF6c.1203C>G (p.Ala401=)
c.794-51C>G (n.794-51C>G)
c.952C>G (p.His318Asp)
c.804C>G (p.Ala268=)
8g.96144728G>TCA371749918GDF6c.1203C>A (p.Ala401=)
c.794-51C>A (n.794-51C>A)
c.952C>A (p.His318Asn)
c.804C>A (p.Ala268=)
8g.96144729G>ACA371749920GDF6c.1202C>T (p.Ala401Val)
c.794-52C>T (n.794-52C>T)
c.951C>T (p.Arg317=)
c.803C>T (p.Ala268Val)
8g.96144729G>CCA371749922GDF6c.1202C>G (p.Ala401Gly)
c.794-52C>G (n.794-52C>G)
c.951C>G (p.Arg317=)
c.803C>G (p.Ala268Gly)
8g.96144729G>TCA371749924GDF6c.1202C>A (p.Ala401Asp)
c.794-52C>A (n.794-52C>A)
c.951C>A (p.Arg317=)
c.803C>A (p.Ala268Asp)
8g.96144730C>ACA371749927GDF6c.1201G>T (p.Ala401Ser)
c.794-53G>T (n.794-53G>T)
c.950G>T (p.Arg317Leu)
c.802G>T (p.Ala268Ser)
8g.96144730C>GCA371749929GDF6c.1201G>C (p.Ala401Pro)
c.794-53G>C (n.794-53G>C)
c.950G>C (p.Arg317Pro)
c.802G>C (p.Ala268Pro)
8g.96144730C>TCA371749930GDF6c.1201G>A (p.Ala401Thr)
c.794-53G>A (n.794-53G>A)
c.950G>A (p.Arg317His)
c.802G>A (p.Ala268Thr)
8g.96144731G>ACA371749935GDF6c.1200C>T (p.His400=)
c.794-54C>T (n.794-54C>T)
c.949C>T (p.Arg317Cys)
c.801C>T (p.His267=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.96144731G>CCA371749932GDF6c.1200C>G (p.His400Gln)
c.794-54C>G (n.794-54C>G)
c.949C>G (p.Arg317Gly)
c.801C>G (p.His267Gln)
8g.96144731G=CA1804260835GDF6c.1200C= (p.His400=)
c.794-54C= (n.794-54C=)
c.949C= (p.Arg317=)
c.801C= (p.His267=)
8g.96144731G>TCA371749933GDF6c.1200C>A (p.His400Gln)
c.794-54C>A (n.794-54C>A)
c.949C>A (p.Arg317Ser)
c.801C>A (p.His267Gln)
8g.96144732T>ACA371749937GDF6c.1199A>T (p.His400Leu)
c.794-55A>T (n.794-55A>T)
c.948A>T (p.Pro316=)
c.800A>T (p.His267Leu)
8g.96144732T>CCA371749939GDF6c.1199A>G (p.His400Arg)
c.794-55A>G (n.794-55A>G)
c.948A>G (p.Pro316=)
c.800A>G (p.His267Arg)
8g.96144732T>GCA371749941GDF6c.1199A>C (p.His400Pro)
c.794-55A>C (n.794-55A>C)
c.948A>C (p.Pro316=)
c.800A>C (p.His267Pro)
8g.96144733G>ACA371749943GDF6c.1198C>T (p.His400Tyr)
c.794-56C>T (n.794-56C>T)
c.947C>T (p.Pro316Leu)
c.799C>T (p.His267Tyr)
8g.96144733G>CCA371749945GDF6c.1198C>G (p.His400Asp)
c.794-56C>G (n.794-56C>G)
c.947C>G (p.Pro316Arg)
c.799C>G (p.His267Asp)
8g.96144733G>TCA371749947GDF6c.1198C>A (p.His400Asn)
c.794-56C>A (n.794-56C>A)
c.947C>A (p.Pro316Gln)
c.799C>A (p.His267Asn)
8g.96144734G>ACA371749950GDF6c.1197C>T (p.Asn399=)
c.794-57C>T (n.794-57C>T)
c.946C>T (p.Pro316Ser)
c.798C>T (p.Asn266=)
 gnomAD v4
8g.96144734G>CCA371749951GDF6c.1197C>G (p.Asn399Lys)
c.794-57C>G (n.794-57C>G)
c.946C>G (p.Pro316Ala)
c.798C>G (p.Asn266Lys)
8g.96144734G>TCA371749953GDF6c.1197C>A (p.Asn399Lys)
c.794-57C>A (n.794-57C>A)
c.946C>A (p.Pro316Thr)
c.798C>A (p.Asn266Lys)
8g.96144735T>ACA371749955GDF6c.1196A>T (p.Asn399Ile)
c.794-58A>T (n.794-58A>T)
c.945A>T (p.Gln315His)
c.797A>T (p.Asn266Ile)
8g.96144735T>CCA371749957GDF6c.1196A>G (p.Asn399Ser)
c.794-58A>G (n.794-58A>G)
c.945A>G (p.Gln315=)
c.797A>G (p.Asn266Ser)
 gnomAD v4
8g.96144735T>GCA371749959GDF6c.1196A>C (p.Asn399Thr)
c.794-58A>C (n.794-58A>C)
c.945A>C (p.Gln315His)
c.797A>C (p.Asn266Thr)
8g.96144736T>ACA371749964GDF6c.1195A>T (p.Asn399Tyr)
c.794-59A>T (n.794-59A>T)
c.944A>T (p.Gln315Leu)
c.796A>T (p.Asn266Tyr)
8g.96144736T>CCA371749962GDF6c.1195A>G (p.Asn399Asp)
c.794-59A>G (n.794-59A>G)
c.944A>G (p.Gln315Arg)
c.796A>G (p.Asn266Asp)
8g.96144736T>GCA371749960GDF6c.1195A>C (p.Asn399His)
c.794-59A>C (n.794-59A>C)
c.944A>C (p.Gln315Pro)
c.796A>C (p.Asn266His)
8g.96144737G>ACA371749974GDF6c.1194C>T (p.Thr398=)
c.794-60C>T (n.794-60C>T)
c.943C>T (p.Gln315Ter)
c.795C>T (p.Thr265=)
8g.96144737G>CCA371749966GDF6c.1194C>G (p.Thr398=)
c.794-60C>G (n.794-60C>G)
c.943C>G (p.Gln315Glu)
c.795C>G (p.Thr265=)
8g.96144737G=CA1804260840GDF6c.1194C= (p.Thr398=)
c.794-60C= (n.794-60C=)
c.943C= (p.Gln315=)
c.795C= (p.Thr265=)
8g.96144737G>TCA4815353GDF6c.1194C>A (p.Thr398=)
c.794-60C>A (n.794-60C>A)
c.943C>A (p.Gln315Lys)
c.795C>A (p.Thr265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96144738G>ACA371749975GDF6c.1193C>T (p.Thr398Ile)
c.794-61C>T (n.794-61C>T)
c.942C>T (p.His314=)
c.794C>T (p.Thr265Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.96144738G>CCA371749976GDF6c.1193C>G (p.Thr398Ser)
c.794-61C>G (n.794-61C>G)
c.942C>G (p.His314Gln)
c.794C>G (p.Thr265Ser)
8g.96144738G=CA1804260845GDF6c.1193C= (p.Thr398=)
c.794-61C= (n.794-61C=)
c.942C= (p.His314=)
c.794C= (p.Thr265=)
8g.96144738G>TCA371749978GDF6c.1193C>A (p.Thr398Asn)
c.794-61C>A (n.794-61C>A)
c.942C>A (p.His314Gln)
c.794C>A (p.Thr265Asn)
8g.96144739T>ACA371749983GDF6c.1192A>T (p.Thr398Ser)
c.794-62A>T (n.794-62A>T)
c.941A>T (p.His314Leu)
c.793A>T (p.Thr265Ser)
8g.96144739T>CCA371749982GDF6c.1192A>G (p.Thr398Ala)
c.794-62A>G (n.794-62A>G)
c.941A>G (p.His314Arg)
c.793A>G (p.Thr265Ala)
8g.96144739T>GCA371749981GDF6c.1192A>C (p.Thr398Pro)
c.794-62A>C (n.794-62A>C)
c.941A>C (p.His314Pro)
c.793A>C (p.Thr265Pro)
8g.96144740G>ACA4815354GDF6c.1191C>T (p.Pro397=)
c.794-63C>T (n.794-63C>T)
c.940C>T (p.His314Tyr)
c.792C>T (p.Pro264=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96144740G>CCA371749987GDF6c.1191C>G (p.Pro397=)
c.794-63C>G (n.794-63C>G)
c.940C>G (p.His314Asp)
c.792C>G (p.Pro264=)
8g.96144740G=CA1804260852GDF6c.1191C= (p.Pro397=)
c.794-63C= (n.794-63C=)
c.940C= (p.His314=)
c.792C= (p.Pro264=)
8g.96144740G>TCA371749988GDF6c.1191C>A (p.Pro397=)
c.794-63C>A (n.794-63C>A)
c.940C>A (p.His314Asn)
c.792C>A (p.Pro264=)
8g.96144741G>ACA371749991GDF6c.1190C>T (p.Pro397Leu)
c.794-64C>T (n.794-64C>T)
c.939C>T (p.Ala313=)
c.791C>T (p.Pro264Leu)
8g.96144741G>CCA371749993GDF6c.1190C>G (p.Pro397Arg)
c.794-64C>G (n.794-64C>G)
c.939C>G (p.Ala313=)
c.791C>G (p.Pro264Arg)
 gnomAD v4
8g.96144741G>TCA371749994GDF6c.1190C>A (p.Pro397His)
c.794-64C>A (n.794-64C>A)
c.939C>A (p.Ala313=)
c.791C>A (p.Pro264His)
8g.96144742G>ACA371749996GDF6c.1189C>T (p.Pro397Ser)
c.794-65C>T (n.794-65C>T)
c.938C>T (p.Ala313Val)
c.790C>T (p.Pro264Ser)
8g.96144742G>CCA371749998GDF6c.1189C>G (p.Pro397Ala)
c.794-65C>G (n.794-65C>G)
c.938C>G (p.Ala313Gly)
c.790C>G (p.Pro264Ala)
8g.96144742G>TCA371749997GDF6c.1189C>A (p.Pro397Thr)
c.794-65C>A (n.794-65C>A)
c.938C>A (p.Ala313Asp)
c.790C>A (p.Pro264Thr)
8g.96144743C>ACA371750000GDF6c.1188G>T (p.Glu396Asp)
c.794-66G>T (n.794-66G>T)
c.937G>T (p.Ala313Ser)
c.789G>T (p.Glu263Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.96144743C=CA1804260859GDF6c.1188G= (p.Glu396=)
c.794-66G= (n.794-66G=)
c.937G= (p.Ala313=)
c.789G= (p.Glu263=)
8g.96144743C>GCA371750002GDF6c.1188G>C (p.Glu396Asp)
c.794-66G>C (n.794-66G>C)
c.937G>C (p.Ala313Pro)
c.789G>C (p.Glu263Asp)
8g.96144743C>TCA371750003GDF6c.1188G>A (p.Glu396=)
c.794-66G>A (n.794-66G>A)
c.937G>A (p.Ala313Thr)
c.789G>A (p.Glu263=)
8g.96144744T>ACA371750004GDF6c.1187A>T (p.Glu396Val)
c.794-67A>T (n.794-67A>T)
c.936A>T (p.Gly312=)
c.788A>T (p.Glu263Val)
8g.96144744T>CCA371750005GDF6c.1187A>G (p.Glu396Gly)
c.794-67A>G (n.794-67A>G)
c.936A>G (p.Gly312=)
c.788A>G (p.Glu263Gly)
8g.96144744T>GCA371750006GDF6c.1187A>C (p.Glu396Ala)
c.794-67A>C (n.794-67A>C)
c.936A>C (p.Gly312=)
c.788A>C (p.Glu263Ala)
8g.96144745C>ACA371750007GDF6c.1186G>T (p.Glu396Ter)
c.794-68G>T (n.794-68G>T)
c.935G>T (p.Gly312Val)
c.787G>T (p.Glu263Ter)
8g.96144745C=CA1804260865GDF6c.1186G= (p.Glu396=)
c.794-68G= (n.794-68G=)
c.935G= (p.Gly312=)
c.787G= (p.Glu263=)
8g.96144745C>GCA371750008GDF6c.1186G>C (p.Glu396Gln)
c.794-68G>C (n.794-68G>C)
c.935G>C (p.Gly312Ala)
c.787G>C (p.Glu263Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96144745C>TCA371750009GDF6c.1186G>A (p.Glu396Lys)
c.794-68G>A (n.794-68G>A)
c.935G>A (p.Gly312Glu)
c.787G>A (p.Glu263Lys)
8g.96144746C>ACA371750010GDF6c.1185G>T (p.Leu395=)
c.794-69G>T (n.794-69G>T)
c.934G>T (p.Gly312Ter)
c.786G>T (p.Leu262=)
8g.96144746C>GCA371750011GDF6c.1185G>C (p.Leu395=)
c.794-69G>C (n.794-69G>C)
c.934G>C (p.Gly312Arg)
c.786G>C (p.Leu262=)
8g.96144746C>TCA371750012GDF6c.1185G>A (p.Leu395=)
c.794-69G>A (n.794-69G>A)
c.934G>A (p.Gly312Arg)
c.786G>A (p.Leu262=)
 gnomAD v4
8g.96144747A>CCA371750014GDF6c.1184T>G (p.Leu395Arg)
c.794-70T>G (n.794-70T>G)
c.933T>G (p.Pro311=)
c.785T>G (p.Leu262Arg)
8g.96144747A>GCA371750015GDF6c.1184T>C (p.Leu395Pro)
c.794-70T>C (n.794-70T>C)
c.933T>C (p.Pro311=)
c.785T>C (p.Leu262Pro)
8g.96144747A>TCA371750013GDF6c.1184T>A (p.Leu395Gln)
c.794-70T>A (n.794-70T>A)
c.933T>A (p.Pro311=)
c.785T>A (p.Leu262Gln)
8g.96144748G>ACA371750016GDF6c.1183C>T (p.Leu395=)
c.794-71C>T (n.794-71C>T)
c.932C>T (p.Pro311Leu)
c.784C>T (p.Leu262=)
8g.96144748G>CCA371750017GDF6c.1183C>G (p.Leu395Val)
c.794-71C>G (n.794-71C>G)
c.932C>G (p.Pro311Arg)
c.784C>G (p.Leu262Val)
8g.96144748G>TCA371750018GDF6c.1183C>A (p.Leu395Met)
c.794-71C>A (n.794-71C>A)
c.932C>A (p.Pro311His)
c.784C>A (p.Leu262Met)
8g.96144749G>ACA371750019GDF6c.1182C>T (p.His394=)
c.794-72C>T (n.794-72C>T)
c.931C>T (p.Pro311Ser)
c.783C>T (p.His261=)
8g.96144749G>CCA371750020GDF6c.1182C>G (p.His394Gln)
c.794-72C>G (n.794-72C>G)
c.931C>G (p.Pro311Ala)
c.783C>G (p.His261Gln)
8g.96144749G>TCA371750021GDF6c.1182C>A (p.His394Gln)
c.794-72C>A (n.794-72C>A)
c.931C>A (p.Pro311Thr)
c.783C>A (p.His261Gln)
8g.96144750T>ACA371750024GDF6c.1181A>T (p.His394Leu)
c.794-73A>T (n.794-73A>T)
c.930A>T (p.Ala310=)
c.782A>T (p.His261Leu)
8g.96144750T>CCA371750023GDF6c.1181A>G (p.His394Arg)
c.794-73A>G (n.794-73A>G)
c.930A>G (p.Ala310=)
c.782A>G (p.His261Arg)
8g.96144750T>GCA371750022GDF6c.1181A>C (p.His394Pro)
c.794-73A>C (n.794-73A>C)
c.930A>C (p.Ala310=)
c.782A>C (p.His261Pro)
 dbSNP
8g.96144750T=CA1804260871GDF6c.1181A= (p.His394=)
c.794-73A= (n.794-73A=)
c.930A= (p.Ala310=)
c.782A= (p.His261=)
8g.96144751G>ACA371750026GDF6c.1180C>T (p.His394Tyr)
c.794-74C>T (n.794-74C>T)
c.929C>T (p.Ala310Val)
c.781C>T (p.His261Tyr)
8g.96144751G>CCA371750027GDF6c.1180C>G (p.His394Asp)
c.794-74C>G (n.794-74C>G)
c.929C>G (p.Ala310Gly)
c.781C>G (p.His261Asp)
8g.96144751G>TCA371750028GDF6c.1180C>A (p.His394Asn)
c.794-74C>A (n.794-74C>A)
c.929C>A (p.Ala310Glu)
c.781C>A (p.His261Asn)
8g.96144752C>ACA4815355GDF6c.1179G>T (p.Ser393=)
c.794-75G>T (n.794-75G>T)
c.928G>T (p.Ala310Ser)
c.780G>T (p.Ser260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96144752C=CA1804260874GDF6c.1179G= (p.Ser393=)
c.794-75G= (n.794-75G=)
c.928G= (p.Ala310=)
c.780G= (p.Ser260=)
8g.96144752C>GCA371750030GDF6c.1179G>C (p.Ser393=)
c.794-75G>C (n.794-75G>C)
c.928G>C (p.Ala310Pro)
c.780G>C (p.Ser260=)
 gnomAD v4
8g.96144752C>TCA371750032GDF6c.1179G>A (p.Ser393=)
c.794-75G>A (n.794-75G>A)
c.928G>A (p.Ala310Thr)
c.780G>A (p.Ser260=)
 gnomAD v4
8g.96144753G>ACA181485021GDF6c.1178C>T (p.Ser393Leu)
c.794-76C>T (n.794-76C>T)
c.927C>T (p.Leu309=)
c.779C>T (p.Ser260Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96144753G>CCA371750036GDF6c.1178C>G (p.Ser393Trp)
c.794-76C>G (n.794-76C>G)
c.927C>G (p.Leu309=)
c.779C>G (p.Ser260Trp)
8g.96144753G=CA1804260879GDF6c.1178C= (p.Ser393=)
c.794-76C= (n.794-76C=)
c.927C= (p.Leu309=)
c.779C= (p.Ser260=)
8g.96144753G>TCA371750034GDF6c.1178C>A (p.Ser393Ter)
c.794-76C>A (n.794-76C>A)
c.927C>A (p.Leu309=)
c.779C>A (p.Ser260Ter)
8g.96144754A>CCA371750038GDF6c.1177T>G (p.Ser393Ala)
c.794-77T>G (n.794-77T>G)
c.926T>G (p.Leu309Arg)
c.778T>G (p.Ser260Ala)
8g.96144754A>GCA371750040GDF6c.1177T>C (p.Ser393Pro)
c.794-77T>C (n.794-77T>C)
c.926T>C (p.Leu309Pro)
c.778T>C (p.Ser260Pro)
8g.96144754A>TCA371750042GDF6c.1177T>A (p.Ser393Thr)
c.794-77T>A (n.794-77T>A)
c.926T>A (p.Leu309His)
c.778T>A (p.Ser260Thr)
8g.96144755G>ACA371750043GDF6c.1176C>T (p.Arg392=)
c.794-78C>T (n.794-78C>T)
c.925C>T (p.Leu309Phe)
c.777C>T (p.Arg259=)
 dbSNP gnomAD v2 gnomAD v4
8g.96144755G>CCA371750045GDF6c.1176C>G (p.Arg392=)
c.794-78C>G (n.794-78C>G)
c.925C>G (p.Leu309Val)
c.777C>G (p.Arg259=)
8g.96144755G=CA1804260885GDF6c.1176C= (p.Arg392=)
c.794-78C= (n.794-78C=)
c.925C= (p.Leu309=)
c.777C= (p.Arg259=)
8g.96144755G>TCA371750047GDF6c.1176C>A (p.Arg392=)
c.794-78C>A (n.794-78C>A)
c.925C>A (p.Leu309Ile)
c.777C>A (p.Arg259=)
8g.96144756C>ACA371750049GDF6c.1175G>T (p.Arg392Leu)
c.794-79G>T (n.794-79G>T)
c.924G>T (p.Ala308=)
c.776G>T (p.Arg259Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.96144756C=CA1804260890GDF6c.1175G= (p.Arg392=)
c.794-79G= (n.794-79G=)
c.924G= (p.Ala308=)
c.776G= (p.Arg259=)
8g.96144756C>GCA371750051GDF6c.1175G>C (p.Arg392Pro)
c.794-79G>C (n.794-79G>C)
c.924G>C (p.Ala308=)
c.776G>C (p.Arg259Pro)
8g.96144756C>TCA371750053GDF6c.1175G>A (p.Arg392His)
c.794-79G>A (n.794-79G>A)
c.924G>A (p.Ala308=)
c.776G>A (p.Arg259His)
 gnomAD v4
8g.96144757G>ACA371750055GDF6c.1174C>T (p.Arg392Cys)
c.794-80C>T (n.794-80C>T)
c.923C>T (p.Ala308Val)
c.775C>T (p.Arg259Cys)
 COSMIC
8g.96144757G>CCA371750056GDF6c.1174C>G (p.Arg392Gly)
c.794-80C>G (n.794-80C>G)
c.923C>G (p.Ala308Gly)
c.775C>G (p.Arg259Gly)
 COSMIC
8g.96144757G>TCA371750058GDF6c.1174C>A (p.Arg392Ser)
c.794-80C>A (n.794-80C>A)
c.923C>A (p.Ala308Glu)
c.775C>A (p.Arg259Ser)
8g.96144758C>ACA371750059GDF6c.1173G>T (p.Leu391=)
c.794-81G>T (n.794-81G>T)
c.922G>T (p.Ala308Ser)
c.774G>T (p.Leu258=)
8g.96144758C=CA1804260891GDF6c.1173G= (p.Leu391=)
c.794-81G= (n.794-81G=)
c.922G= (p.Ala308=)
c.774G= (p.Leu258=)
8g.96144758C>GCA371750062GDF6c.1173G>C (p.Leu391=)
c.794-81G>C (n.794-81G>C)
c.922G>C (p.Ala308Pro)
c.774G>C (p.Leu258=)
8g.96144758C>TCA371750061GDF6c.1173G>A (p.Leu391=)
c.794-81G>A (n.794-81G>A)
c.922G>A (p.Ala308Thr)
c.774G>A (p.Leu258=)
 ClinVar dbSNP gnomAD v4
8g.96144759A>CCA371750063GDF6c.1172T>G (p.Leu391Arg)
c.794-82T>G (n.794-82T>G)
c.921T>G (p.Ala307=)
c.773T>G (p.Leu258Arg)
8g.96144759A>GCA371750064GDF6c.1172T>C (p.Leu391Pro)
c.794-82T>C (n.794-82T>C)
c.921T>C (p.Ala307=)
c.773T>C (p.Leu258Pro)
8g.96144759A>TCA371750065GDF6c.1172T>A (p.Leu391Gln)
c.794-82T>A (n.794-82T>A)
c.921T>A (p.Ala307=)
c.773T>A (p.Leu258Gln)
8g.96144760G>ACA371750066GDF6c.1171C>T (p.Leu391=)
c.794-83C>T (n.794-83C>T)
c.920C>T (p.Ala307Val)
c.772C>T (p.Leu258=)
 dbSNP gnomAD v3 gnomAD v4
8g.96144760G>CCA371750067GDF6c.1171C>G (p.Leu391Val)
c.794-83C>G (n.794-83C>G)
c.920C>G (p.Ala307Gly)
c.772C>G (p.Leu258Val)
8g.96144760G=CA1804260892GDF6c.1171C= (p.Leu391=)
c.794-83C= (n.794-83C=)
c.920C= (p.Ala307=)
c.772C= (p.Leu258=)
8g.96144760G>TCA371750068GDF6c.1171C>A (p.Leu391Met)
c.794-83C>A (n.794-83C>A)
c.920C>A (p.Ala307Asp)
c.772C>A (p.Leu258Met)
8g.96144761C>ACA371750069GDF6c.1170G>T (p.Pro390=)
c.794-84G>T (n.794-84G>T)
c.919G>T (p.Ala307Ser)
c.771G>T (p.Pro257=)
8g.96144761C=CA1804260899GDF6c.1170G= (p.Pro390=)
c.794-84G= (n.794-84G=)
c.919G= (p.Ala307=)
c.771G= (p.Pro257=)
8g.96144761C>GCA371750070GDF6c.1170G>C (p.Pro390=)
c.794-84G>C (n.794-84G>C)
c.919G>C (p.Ala307Pro)
c.771G>C (p.Pro257=)
 dbSNP gnomAD v4
8g.96144761C>TCA371750072GDF6c.1170G>A (p.Pro390=)
c.794-84G>A (n.794-84G>A)
c.919G>A (p.Ala307Thr)
c.771G>A (p.Pro257=)
 COSMIC
8g.96144762G>ACA371750074GDF6c.1169C>T (p.Pro390Leu)
c.794-85C>T (n.794-85C>T)
c.918C>T (p.Pro306=)
c.770C>T (p.Pro257Leu)
8g.96144762G>CCA371750075GDF6c.1169C>G (p.Pro390Arg)
c.794-85C>G (n.794-85C>G)
c.918C>G (p.Pro306=)
c.770C>G (p.Pro257Arg)
8g.96144762G>TCA371750077GDF6c.1169C>A (p.Pro390Gln)
c.794-85C>A (n.794-85C>A)
c.918C>A (p.Pro306=)
c.770C>A (p.Pro257Gln)
8g.96144763G>ACA371750083GDF6c.1168C>T (p.Pro390Ser)
c.794-86C>T (n.794-86C>T)
c.917C>T (p.Pro306Leu)
c.769C>T (p.Pro257Ser)
8g.96144763G>CCA371750081GDF6c.1168C>G (p.Pro390Ala)
c.794-86C>G (n.794-86C>G)
c.917C>G (p.Pro306Arg)
c.769C>G (p.Pro257Ala)
8g.96144763G>TCA371750080GDF6c.1168C>A (p.Pro390Thr)
c.794-86C>A (n.794-86C>A)
c.917C>A (p.Pro306His)
c.769C>A (p.Pro257Thr)
8g.96144764G>ACA371750086GDF6c.1167C>T (p.Phe389=)
c.794-87C>T (n.794-87C>T)
c.916C>T (p.Pro306Ser)
c.768C>T (p.Phe256=)
 gnomAD v4 COSMIC
8g.96144764G>CCA371750088GDF6c.1167C>G (p.Phe389Leu)
c.794-87C>G (n.794-87C>G)
c.916C>G (p.Pro306Ala)
c.768C>G (p.Phe256Leu)
8g.96144764G>TCA371750089GDF6c.1167C>A (p.Phe389Leu)
c.794-87C>A (n.794-87C>A)
c.916C>A (p.Pro306Thr)
c.768C>A (p.Phe256Leu)
8g.96144765A>CCA371750092GDF6c.1166T>G (p.Phe389Cys)
c.794-88T>G (n.794-88T>G)
c.915T>G (p.Leu305=)
c.767T>G (p.Phe256Cys)
8g.96144765A>GCA371750094GDF6c.1166T>C (p.Phe389Ser)
c.794-88T>C (n.794-88T>C)
c.915T>C (p.Leu305=)
c.767T>C (p.Phe256Ser)
8g.96144765A>TCA371750095GDF6c.1166T>A (p.Phe389Tyr)
c.794-88T>A (n.794-88T>A)
c.915T>A (p.Leu305=)
c.767T>A (p.Phe256Tyr)
8g.96144766A>CCA371750097GDF6c.1165T>G (p.Phe389Val)
c.794-89T>G (n.794-89T>G)
c.914T>G (p.Leu305Arg)
c.766T>G (p.Phe256Val)
8g.96144766A>GCA371750099GDF6c.1165T>C (p.Phe389Leu)
c.794-89T>C (n.794-89T>C)
c.914T>C (p.Leu305Pro)
c.766T>C (p.Phe256Leu)
8g.96144766A>TCA371750101GDF6c.1165T>A (p.Phe389Ile)
c.794-89T>A (n.794-89T>A)
c.914T>A (p.Leu305His)
c.766T>A (p.Phe256Ile)

Number of alleles fetched