Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45804274_45804275delCA2338614948RSPH6Ac.1636_1637del (p.Gln546AlafsTer?)
c.844_845del (p.Gln282AlafsTer?)
 dbSNP
19g.45804275G>ACA406404608RSPH6Ac.1630C>T (p.His544Tyr)
c.838C>T (p.His280Tyr)
19g.45804275G>CCA406404611RSPH6Ac.1630C>G (p.His544Asp)
c.838C>G (p.His280Asp)
19g.45804275G>TCA406404612RSPH6Ac.1630C>A (p.His544Asn)
c.838C>A (p.His280Asn)
19g.45804276A>CCA406404614RSPH6Ac.1629T>G (p.His543Gln)
c.837T>G (p.His279Gln)
19g.45804276A>GCA507828565RSPH6Ac.1629T>C (p.His543=)
c.837T>C (p.His279=)
 dbSNP
19g.45804276A>TCA406404613RSPH6Ac.1629T>A (p.His543Gln)
c.837T>A (p.His279Gln)
19g.45804277T>ACA406404618RSPH6Ac.1628A>T (p.His543Leu)
c.836A>T (p.His279Leu)
19g.45804277T>CCA406404620RSPH6Ac.1628A>G (p.His543Arg)
c.836A>G (p.His279Arg)
19g.45804277T>GCA406404619RSPH6Ac.1628A>C (p.His543Pro)
c.836A>C (p.His279Pro)
19g.45804278G>ACA9522612RSPH6Ac.1627C>T (p.His543Tyr)
c.835C>T (p.His279Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804278G>CCA406404624RSPH6Ac.1627C>G (p.His543Asp)
c.835C>G (p.His279Asp)
19g.45804278G=CA2338614950RSPH6Ac.1627C= (p.His543=)
c.835C= (p.His279=)
19g.45804278G>TCA406404623RSPH6Ac.1627C>A (p.His543Asn)
c.835C>A (p.His279Asn)
19g.45804279C>ACA507828568RSPH6Ac.1626G>T (p.Val542=)
c.834G>T (p.Val278=)
19g.45804279C=CA2338614951RSPH6Ac.1626G= (p.Val542=)
c.834G= (p.Val278=)
19g.45804279C>GCA507828566RSPH6Ac.1626G>C (p.Val542=)
c.834G>C (p.Val278=)
 dbSNP
19g.45804279C>TCA507828567RSPH6Ac.1626G>A (p.Val542=)
c.834G>A (p.Val278=)
 dbSNP gnomAD v2
19g.45804280A=CA2338614952RSPH6Ac.1625T= (p.Val542=)
c.833T= (p.Val278=)
19g.45804280A>CCA406404627RSPH6Ac.1625T>G (p.Val542Gly)
c.833T>G (p.Val278Gly)
 gnomAD v4
19g.45804280A>GCA308997004RSPH6Ac.1625T>C (p.Val542Ala)
c.833T>C (p.Val278Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804280A>TCA406404628RSPH6Ac.1625T>A (p.Val542Glu)
c.833T>A (p.Val278Glu)
19g.45804281C>ACA406404632RSPH6Ac.1624G>T (p.Val542Leu)
c.832G>T (p.Val278Leu)
 gnomAD v4
19g.45804281C>GCA406404634RSPH6Ac.1624G>C (p.Val542Leu)
c.832G>C (p.Val278Leu)
19g.45804281C>TCA406404633RSPH6Ac.1624G>A (p.Val542Met)
c.832G>A (p.Val278Met)
19g.45804283delCA2576820671RSPH6Ac.1624del (p.Val542CysfsTer16)
c.832del (p.Val278CysfsTer16)
19g.45804282C>ACA406404635RSPH6Ac.1623G>T (p.Trp541Cys)
c.831G>T (p.Trp277Cys)
19g.45804282C>GCA406404636RSPH6Ac.1623G>C (p.Trp541Cys)
c.831G>C (p.Trp277Cys)
19g.45804282C>TCA406404637RSPH6Ac.1623G>A (p.Trp541Ter)
c.831G>A (p.Trp277Ter)
19g.45804283C>ACA406404638RSPH6Ac.1622G>T (p.Trp541Leu)
c.830G>T (p.Trp277Leu)
19g.45804283C=CA2338614953RSPH6Ac.1622G= (p.Trp541=)
c.830G= (p.Trp277=)
19g.45804283C>GCA406404639RSPH6Ac.1622G>C (p.Trp541Ser)
c.830G>C (p.Trp277Ser)
19g.45804283C>TCA9522613RSPH6Ac.1622G>A (p.Trp541Ter)
c.830G>A (p.Trp277Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804284A=CA2338614954RSPH6Ac.1621T= (p.Trp541=)
c.829T= (p.Trp277=)
19g.45804284A>CCA406404642RSPH6Ac.1621T>G (p.Trp541Gly)
c.829T>G (p.Trp277Gly)
19g.45804284A>GCA406404640RSPH6Ac.1621T>C (p.Trp541Arg)
c.829T>C (p.Trp277Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804284A>TCA406404641RSPH6Ac.1621T>A (p.Trp541Arg)
c.829T>A (p.Trp277Arg)
19g.45804285G>ACA507828569RSPH6Ac.1620C>T (p.Asn540=)
c.828C>T (p.Asn276=)
 dbSNP gnomAD v2
19g.45804285G>CCA406404643RSPH6Ac.1620C>G (p.Asn540Lys)
c.828C>G (p.Asn276Lys)
19g.45804285G=CA2338614955RSPH6Ac.1620C= (p.Asn540=)
c.828C= (p.Asn276=)
19g.45804285G>TCA406404644RSPH6Ac.1620C>A (p.Asn540Lys)
c.828C>A (p.Asn276Lys)
19g.45804286T>ACA406404645RSPH6Ac.1619A>T (p.Asn540Ile)
c.827A>T (p.Asn276Ile)
 gnomAD v4
19g.45804286T>CCA9522615RSPH6Ac.1619A>G (p.Asn540Ser)
c.827A>G (p.Asn276Ser)
 dbSNP ExAC gnomAD v2
19g.45804286T>GCA9522614RSPH6Ac.1619A>C (p.Asn540Thr)
c.827A>C (p.Asn276Thr)
 dbSNP ExAC gnomAD v2
19g.45804286T=CA2338614956RSPH6Ac.1619A= (p.Asn540=)
c.827A= (p.Asn276=)
19g.45804287T>ACA406404648RSPH6Ac.1618A>T (p.Asn540Tyr)
c.826A>T (p.Asn276Tyr)
19g.45804287T>CCA406404646RSPH6Ac.1618A>G (p.Asn540Asp)
c.826A>G (p.Asn276Asp)
19g.45804287T>GCA406404647RSPH6Ac.1618A>C (p.Asn540His)
c.826A>C (p.Asn276His)
19g.45804288G>ACA507828570RSPH6Ac.1617C>T (p.Ala539=)
c.825C>T (p.Ala275=)
19g.45804288G>CCA507828571RSPH6Ac.1617C>G (p.Ala539=)
c.825C>G (p.Ala275=)
19g.45804288G=CA2338614957RSPH6Ac.1617C= (p.Ala539=)
c.825C= (p.Ala275=)
19g.45804288G>TCA507828572RSPH6Ac.1617C>A (p.Ala539=)
c.825C>A (p.Ala275=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804289G>ACA308997009RSPH6Ac.1616C>T (p.Ala539Val)
c.824C>T (p.Ala275Val)
 dbSNP
19g.45804289G>CCA406404649RSPH6Ac.1616C>G (p.Ala539Gly)
c.824C>G (p.Ala275Gly)
19g.45804289G=CA2338614958RSPH6Ac.1616C= (p.Ala539=)
c.824C= (p.Ala275=)
19g.45804289G>TCA406404650RSPH6Ac.1616C>A (p.Ala539Asp)
c.824C>A (p.Ala275Asp)
19g.45804290C>ACA406404651RSPH6Ac.1615G>T (p.Ala539Ser)
c.823G>T (p.Ala275Ser)
19g.45804290C>GCA406404652RSPH6Ac.1615G>C (p.Ala539Pro)
c.823G>C (p.Ala275Pro)
19g.45804290C>TCA406404653RSPH6Ac.1615G>A (p.Ala539Thr)
c.823G>A (p.Ala275Thr)
19g.45804291C>ACA406404654RSPH6Ac.1614G>T (p.Met538Ile)
c.822G>T (p.Met274Ile)
19g.45804291C>GCA406404655RSPH6Ac.1614G>C (p.Met538Ile)
c.822G>C (p.Met274Ile)
19g.45804291C>TCA406404656RSPH6Ac.1614G>A (p.Met538Ile)
c.822G>A (p.Met274Ile)
19g.45804291_45804297delCA2585869015RSPH6Ac.1608_1614del (p.Asp536GlufsTer20)
c.816_822del (p.Asp272GlufsTer20)
 gnomAD v4
19g.45804292A=CA2338614959RSPH6Ac.1613T= (p.Met538=)
c.821T= (p.Met274=)
19g.45804292A>CCA406404657RSPH6Ac.1613T>G (p.Met538Arg)
c.821T>G (p.Met274Arg)
19g.45804292A>GCA9522616RSPH6Ac.1613T>C (p.Met538Thr)
c.821T>C (p.Met274Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804292A>TCA406404658RSPH6Ac.1613T>A (p.Met538Lys)
c.821T>A (p.Met274Lys)
 dbSNP gnomAD v4
19g.45804293T>ACA406404659RSPH6Ac.1612A>T (p.Met538Leu)
c.820A>T (p.Met274Leu)
19g.45804293T>CCA9522617RSPH6Ac.1612A>G (p.Met538Val)
c.820A>G (p.Met274Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804293T>GCA9522618RSPH6Ac.1612A>C (p.Met538Leu)
c.820A>C (p.Met274Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804293T=CA2338614960RSPH6Ac.1612A= (p.Met538=)
c.820A= (p.Met274=)
19g.45804294G>ACA507828573RSPH6Ac.1611C>T (p.Ser537=)
c.819C>T (p.Ser273=)
19g.45804294G>CCA507828574RSPH6Ac.1611C>G (p.Ser537=)
c.819C>G (p.Ser273=)
19g.45804294G>TCA507828575RSPH6Ac.1611C>A (p.Ser537=)
c.819C>A (p.Ser273=)
19g.45804295G>ACA406404660RSPH6Ac.1610C>T (p.Ser537Phe)
c.818C>T (p.Ser273Phe)
 COSMIC
19g.45804295G>CCA406404661RSPH6Ac.1610C>G (p.Ser537Cys)
c.818C>G (p.Ser273Cys)
 COSMIC
19g.45804295G>TCA406404662RSPH6Ac.1610C>A (p.Ser537Tyr)
c.818C>A (p.Ser273Tyr)
19g.45804296A=CA2338614961RSPH6Ac.1609T= (p.Ser537=)
c.817T= (p.Ser273=)
19g.45804296A>CCA406404663RSPH6Ac.1609T>G (p.Ser537Ala)
c.817T>G (p.Ser273Ala)
19g.45804296A>GCA9522619RSPH6Ac.1609T>C (p.Ser537Pro)
c.817T>C (p.Ser273Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804296A>TCA406404664RSPH6Ac.1609T>A (p.Ser537Thr)
c.817T>A (p.Ser273Thr)
19g.45804297G>ACA507828576RSPH6Ac.1608C>T (p.Asp536=)
c.816C>T (p.Asp272=)
19g.45804297G>CCA406404665RSPH6Ac.1608C>G (p.Asp536Glu)
c.816C>G (p.Asp272Glu)
19g.45804297G>TCA406404666RSPH6Ac.1608C>A (p.Asp536Glu)
c.816C>A (p.Asp272Glu)
19g.45804298T>ACA406404667RSPH6Ac.1607A>T (p.Asp536Val)
c.815A>T (p.Asp272Val)
19g.45804298T>CCA406404668RSPH6Ac.1607A>G (p.Asp536Gly)
c.815A>G (p.Asp272Gly)
19g.45804298T>GCA406404669RSPH6Ac.1607A>C (p.Asp536Ala)
c.815A>C (p.Asp272Ala)
19g.45804299C>ACA406404672RSPH6Ac.1606G>T (p.Asp536Tyr)
c.814G>T (p.Asp272Tyr)
19g.45804299C=CA2338614962RSPH6Ac.1606G= (p.Asp536=)
c.814G= (p.Asp272=)
19g.45804299C>GCA406404671RSPH6Ac.1606G>C (p.Asp536His)
c.814G>C (p.Asp272His)
19g.45804299C>TCA406404670RSPH6Ac.1606G>A (p.Asp536Asn)
c.814G>A (p.Asp272Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804300G>ACA9522620RSPH6Ac.1605C>T (p.Val535=)
c.813C>T (p.Val271=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804300G>CCA507828578RSPH6Ac.1605C>G (p.Val535=)
c.813C>G (p.Val271=)
19g.45804300G=CA2338614963RSPH6Ac.1605C= (p.Val535=)
c.813C= (p.Val271=)
19g.45804300G>TCA507828577RSPH6Ac.1605C>A (p.Val535=)
c.813C>A (p.Val271=)
 gnomAD v4
19g.45804301A>CCA406404673RSPH6Ac.1604T>G (p.Val535Gly)
c.812T>G (p.Val271Gly)
19g.45804301A>GCA406404674RSPH6Ac.1604T>C (p.Val535Ala)
c.812T>C (p.Val271Ala)
19g.45804301A>TCA406404675RSPH6Ac.1604T>A (p.Val535Asp)
c.812T>A (p.Val271Asp)
19g.45804302C>ACA406404676RSPH6Ac.1603G>T (p.Val535Phe)
c.811G>T (p.Val271Phe)
19g.45804302C>GCA406404677RSPH6Ac.1603G>C (p.Val535Leu)
c.811G>C (p.Val271Leu)
19g.45804302C>TCA406404678RSPH6Ac.1603G>A (p.Val535Ile)
c.811G>A (p.Val271Ile)
 gnomAD v4
19g.45804303C>ACA507828579RSPH6Ac.1602G>T (p.Leu534=)
c.810G>T (p.Leu270=)
19g.45804303C>GCA507828580RSPH6Ac.1602G>C (p.Leu534=)
c.810G>C (p.Leu270=)
19g.45804303C>TCA507828581RSPH6Ac.1602G>A (p.Leu534=)
c.810G>A (p.Leu270=)
19g.45804304A>CCA406404679RSPH6Ac.1601T>G (p.Leu534Arg)
c.809T>G (p.Leu270Arg)
19g.45804304A>GCA406404680RSPH6Ac.1601T>C (p.Leu534Pro)
c.809T>C (p.Leu270Pro)
19g.45804304A>TCA406404681RSPH6Ac.1601T>A (p.Leu534Gln)
c.809T>A (p.Leu270Gln)
19g.45804305G>ACA507828582RSPH6Ac.1600C>T (p.Leu534=)
c.808C>T (p.Leu270=)
19g.45804305G>CCA406404682RSPH6Ac.1600C>G (p.Leu534Val)
c.808C>G (p.Leu270Val)
19g.45804305G=CA2338614964RSPH6Ac.1600C= (p.Leu534=)
c.808C= (p.Leu270=)
19g.45804305G>TCA9522621RSPH6Ac.1600C>A (p.Leu534Met)
c.808C>A (p.Leu270Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804306C>ACA406404683RSPH6Ac.1599G>T (p.Glu533Asp)
c.807G>T (p.Glu269Asp)
19g.45804306C>GCA406404684RSPH6Ac.1599G>C (p.Glu533Asp)
c.807G>C (p.Glu269Asp)
19g.45804306C>TCA507828583RSPH6Ac.1599G>A (p.Glu533=)
c.807G>A (p.Glu269=)
 gnomAD v4
19g.45804307T>ACA406404685RSPH6Ac.1598A>T (p.Glu533Val)
c.806A>T (p.Glu269Val)
19g.45804307T>CCA406404686RSPH6Ac.1598A>G (p.Glu533Gly)
c.806A>G (p.Glu269Gly)
19g.45804307T>GCA9522622RSPH6Ac.1598A>C (p.Glu533Ala)
c.806A>C (p.Glu269Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804307T=CA2338614965RSPH6Ac.1598A= (p.Glu533=)
c.806A= (p.Glu269=)
19g.45804308C>ACA406404687RSPH6Ac.1597G>T (p.Glu533Ter)
c.805G>T (p.Glu269Ter)
19g.45804308C=CA2338614966RSPH6Ac.1597G= (p.Glu533=)
c.805G= (p.Glu269=)
19g.45804308C>GCA406404688RSPH6Ac.1597G>C (p.Glu533Gln)
c.805G>C (p.Glu269Gln)
19g.45804308C>TCA9522623RSPH6Ac.1597G>A (p.Glu533Lys)
c.805G>A (p.Glu269Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804309C>ACA507828584RSPH6Ac.1596G>T (p.Leu532=)
c.804G>T (p.Leu268=)
19g.45804309C>GCA507828585RSPH6Ac.1596G>C (p.Leu532=)
c.804G>C (p.Leu268=)
19g.45804309C>TCA507828586RSPH6Ac.1596G>A (p.Leu532=)
c.804G>A (p.Leu268=)
19g.45804310A=CA2338614967RSPH6Ac.1595T= (p.Leu532=)
c.803T= (p.Leu268=)
19g.45804310A>CCA406404689RSPH6Ac.1595T>G (p.Leu532Arg)
c.803T>G (p.Leu268Arg)
19g.45804310A>GCA9522624RSPH6Ac.1595T>C (p.Leu532Pro)
c.803T>C (p.Leu268Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804310A>TCA406404690RSPH6Ac.1595T>A (p.Leu532Gln)
c.803T>A (p.Leu268Gln)
19g.45804311G>ACA507828587RSPH6Ac.1594C>T (p.Leu532=)
c.802C>T (p.Leu268=)
 gnomAD v4
19g.45804311G>CCA406404691RSPH6Ac.1594C>G (p.Leu532Val)
c.802C>G (p.Leu268Val)
19g.45804311G>TCA406404692RSPH6Ac.1594C>A (p.Leu532Met)
c.802C>A (p.Leu268Met)
19g.45804312C>ACA507828588RSPH6Ac.1593G>T (p.Val531=)
c.801G>T (p.Val267=)
19g.45804312C>GCA507828589RSPH6Ac.1593G>C (p.Val531=)
c.801G>C (p.Val267=)
19g.45804312C>TCA507828590RSPH6Ac.1593G>A (p.Val531=)
c.801G>A (p.Val267=)
19g.45804313A>CCA406404693RSPH6Ac.1592T>G (p.Val531Gly)
c.800T>G (p.Val267Gly)
19g.45804313A>GCA406404694RSPH6Ac.1592T>C (p.Val531Ala)
c.800T>C (p.Val267Ala)
 gnomAD v4
19g.45804313A>TCA406404695RSPH6Ac.1592T>A (p.Val531Glu)
c.800T>A (p.Val267Glu)
19g.45804314C>ACA406404697RSPH6Ac.1591G>T (p.Val531Leu)
c.799G>T (p.Val267Leu)
 dbSNP gnomAD v4
19g.45804314C=CA2338614968RSPH6Ac.1591G= (p.Val531=)
c.799G= (p.Val267=)
19g.45804314C>GCA406404696RSPH6Ac.1591G>C (p.Val531Leu)
c.799G>C (p.Val267Leu)
19g.45804314C>TCA9522625RSPH6Ac.1591G>A (p.Val531Met)
c.799G>A (p.Val267Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804314_45804317delinsCGGGCA2338614969RSPH6Ac.1588_1591delinsCCCG (p.Pro530=)
c.796_799delinsCCCG (p.Pro266=)
19g.45804315G>ACA308997026RSPH6Ac.1590C>T (p.Pro530=)
c.798C>T (p.Pro266=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804315G>CCA507828591RSPH6Ac.1590C>G (p.Pro530=)
c.798C>G (p.Pro266=)
 COSMIC
19g.45804315G=CA2338614970RSPH6Ac.1590C= (p.Pro530=)
c.798C= (p.Pro266=)
19g.45804315G>TCA507828592RSPH6Ac.1590C>A (p.Pro530=)
c.798C>A (p.Pro266=)
19g.45804318delCA2585869016RSPH6Ac.1590del (p.Val531CysfsTer27)
c.798del (p.Val267CysfsTer27)
 gnomAD v4
19g.45804316_45804318delCA882763069RSPH6Ac.1588_1590del (p.Pro530del)
c.796_798del (p.Pro266del)
 dbSNP gnomAD v3 gnomAD v4
19g.45804316G>ACA406404698RSPH6Ac.1589C>T (p.Pro530Leu)
c.797C>T (p.Pro266Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.45804316G>CCA406404699RSPH6Ac.1589C>G (p.Pro530Arg)
c.797C>G (p.Pro266Arg)
19g.45804316G=CA2338614971RSPH6Ac.1589C= (p.Pro530=)
c.797C= (p.Pro266=)
19g.45804316G>TCA406404700RSPH6Ac.1589C>A (p.Pro530His)
c.797C>A (p.Pro266His)
19g.45804317G>ACA406404701RSPH6Ac.1588C>T (p.Pro530Ser)
c.796C>T (p.Pro266Ser)
19g.45804317G>CCA406404702RSPH6Ac.1588C>G (p.Pro530Ala)
c.796C>G (p.Pro266Ala)
19g.45804317G>TCA406404703RSPH6Ac.1588C>A (p.Pro530Thr)
c.796C>A (p.Pro266Thr)
19g.45804318G>ACA507828593RSPH6Ac.1587C>T (p.Ile529=)
c.795C>T (p.Ile265=)
 dbSNP gnomAD v3 gnomAD v4
19g.45804318G>CCA406404704RSPH6Ac.1587C>G (p.Ile529Met)
c.795C>G (p.Ile265Met)
19g.45804318G=CA2338614972RSPH6Ac.1587C= (p.Ile529=)
c.795C= (p.Ile265=)
19g.45804318G>TCA507828594RSPH6Ac.1587C>A (p.Ile529=)
c.795C>A (p.Ile265=)
 gnomAD v4
19g.45804319A=CA2338614973RSPH6Ac.1586T= (p.Ile529=)
c.794T= (p.Ile265=)
19g.45804319A>CCA406404705RSPH6Ac.1586T>G (p.Ile529Ser)
c.794T>G (p.Ile265Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.45804319A>GCA406404706RSPH6Ac.1586T>C (p.Ile529Thr)
c.794T>C (p.Ile265Thr)
 gnomAD v4
19g.45804319A>TCA406404707RSPH6Ac.1586T>A (p.Ile529Asn)
c.794T>A (p.Ile265Asn)
19g.45804320T>ACA9522626RSPH6Ac.1585A>T (p.Ile529Phe)
c.793A>T (p.Ile265Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804320T>CCA406404709RSPH6Ac.1585A>G (p.Ile529Val)
c.793A>G (p.Ile265Val)
19g.45804320T>GCA406404708RSPH6Ac.1585A>C (p.Ile529Leu)
c.793A>C (p.Ile265Leu)
19g.45804320T=CA2338614974RSPH6Ac.1585A= (p.Ile529=)
c.793A= (p.Ile265=)
19g.45804321G>ACA507828597RSPH6Ac.1584C>T (p.Gly528=)
c.792C>T (p.Gly264=)
19g.45804321G>CCA507828596RSPH6Ac.1584C>G (p.Gly528=)
c.792C>G (p.Gly264=)
19g.45804321G>TCA507828595RSPH6Ac.1584C>A (p.Gly528=)
c.792C>A (p.Gly264=)
19g.45804322C>ACA406404710RSPH6Ac.1583G>T (p.Gly528Val)
c.791G>T (p.Gly264Val)
19g.45804322C>GCA406404711RSPH6Ac.1583G>C (p.Gly528Ala)
c.791G>C (p.Gly264Ala)
19g.45804322C>TCA406404712RSPH6Ac.1583G>A (p.Gly528Asp)
c.791G>A (p.Gly264Asp)
19g.45804323C>ACA406404713RSPH6Ac.1582G>T (p.Gly528Cys)
c.790G>T (p.Gly264Cys)
19g.45804323C>GCA406404714RSPH6Ac.1582G>C (p.Gly528Arg)
c.790G>C (p.Gly264Arg)
19g.45804323C>TCA406404715RSPH6Ac.1582G>A (p.Gly528Ser)
c.790G>A (p.Gly264Ser)
19g.45804324C>ACA406404716RSPH6Ac.1581G>T (p.Glu527Asp)
c.789G>T (p.Glu263Asp)
19g.45804324C=CA2338614975RSPH6Ac.1581G= (p.Glu527=)
c.789G= (p.Glu263=)
19g.45804324C>GCA9522627RSPH6Ac.1581G>C (p.Glu527Asp)
c.789G>C (p.Glu263Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804324C>TCA507828598RSPH6Ac.1581G>A (p.Glu527=)
c.789G>A (p.Glu263=)
19g.45804325T>ACA406404717RSPH6Ac.1580A>T (p.Glu527Val)
c.788A>T (p.Glu263Val)
19g.45804325T>CCA406404718RSPH6Ac.1580A>G (p.Glu527Gly)
c.788A>G (p.Glu263Gly)
19g.45804325T>GCA406404719RSPH6Ac.1580A>C (p.Glu527Ala)
c.788A>C (p.Glu263Ala)
19g.45804326C>ACA9522629RSPH6Ac.1579G>T (p.Glu527Ter)
c.787G>T (p.Glu263Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804326C=CA2338614976RSPH6Ac.1579G= (p.Glu527=)
c.787G= (p.Glu263=)
19g.45804326C>GCA406404720RSPH6Ac.1579G>C (p.Glu527Gln)
c.787G>C (p.Glu263Gln)
19g.45804326C>TCA9522628RSPH6Ac.1579G>A (p.Glu527Lys)
c.787G>A (p.Glu263Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804327G>ACA9522630RSPH6Ac.1578C>T (p.Phe526=)
c.786C>T (p.Phe262=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804327G>CCA406404722RSPH6Ac.1578C>G (p.Phe526Leu)
c.786C>G (p.Phe262Leu)
19g.45804327G=CA2338614977RSPH6Ac.1578C= (p.Phe526=)
c.786C= (p.Phe262=)
19g.45804327G>TCA406404721RSPH6Ac.1578C>A (p.Phe526Leu)
c.786C>A (p.Phe262Leu)
19g.45804328A=CA2338614978RSPH6Ac.1577T= (p.Phe526=)
c.785T= (p.Phe262=)
19g.45804328A>CCA406404723RSPH6Ac.1577T>G (p.Phe526Cys)
c.785T>G (p.Phe262Cys)
19g.45804328A>GCA406404724RSPH6Ac.1577T>C (p.Phe526Ser)
c.785T>C (p.Phe262Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.45804328A>TCA406404725RSPH6Ac.1577T>A (p.Phe526Tyr)
c.785T>A (p.Phe262Tyr)
19g.45804329A>CCA406404726RSPH6Ac.1576T>G (p.Phe526Val)
c.784T>G (p.Phe262Val)
19g.45804329A>GCA406404727RSPH6Ac.1576T>C (p.Phe526Leu)
c.784T>C (p.Phe262Leu)
 gnomAD v4
19g.45804329A>TCA406404728RSPH6Ac.1576T>A (p.Phe526Ile)
c.784T>A (p.Phe262Ile)
 gnomAD v4
19g.45804330G>ACA507828599RSPH6Ac.1575C>T (p.Asp525=)
c.783C>T (p.Asp261=)
19g.45804330G>CCA406404729RSPH6Ac.1575C>G (p.Asp525Glu)
c.783C>G (p.Asp261Glu)
19g.45804330G>TCA406404730RSPH6Ac.1575C>A (p.Asp525Glu)
c.783C>A (p.Asp261Glu)
19g.45804331T>ACA406404731RSPH6Ac.1574A>T (p.Asp525Val)
c.782A>T (p.Asp261Val)
19g.45804331T>CCA406404732RSPH6Ac.1574A>G (p.Asp525Gly)
c.782A>G (p.Asp261Gly)
19g.45804331T>GCA406404733RSPH6Ac.1574A>C (p.Asp525Ala)
c.782A>C (p.Asp261Ala)
19g.45804332C>ACA406404736RSPH6Ac.1573G>T (p.Asp525Tyr)
c.781G>T (p.Asp261Tyr)
19g.45804332C>GCA406404735RSPH6Ac.1573G>C (p.Asp525His)
c.781G>C (p.Asp261His)
19g.45804332C>TCA406404734RSPH6Ac.1573G>A (p.Asp525Asn)
c.781G>A (p.Asp261Asn)
 COSMIC
19g.45804333C>ACA507828600RSPH6Ac.1572G>T (p.Pro524=)
c.780G>T (p.Pro260=)
19g.45804333C=CA2338614979RSPH6Ac.1572G= (p.Pro524=)
c.780G= (p.Pro260=)
19g.45804333C>GCA507828601RSPH6Ac.1572G>C (p.Pro524=)
c.780G>C (p.Pro260=)
 dbSNP
19g.45804333C>TCA9522631RSPH6Ac.1572G>A (p.Pro524=)
c.780G>A (p.Pro260=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804334G>ACA9522633RSPH6Ac.1571C>T (p.Pro524Leu)
c.779C>T (p.Pro260Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804334G>CCA9522632RSPH6Ac.1571C>G (p.Pro524Arg)
c.779C>G (p.Pro260Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804334G=CA2338614980RSPH6Ac.1571C= (p.Pro524=)
c.779C= (p.Pro260=)
19g.45804334G>TCA406404737RSPH6Ac.1571C>A (p.Pro524Gln)
c.779C>A (p.Pro260Gln)
19g.45804335G>ACA9522634RSPH6Ac.1570C>T (p.Pro524Ser)
c.778C>T (p.Pro260Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804335G>CCA406404738RSPH6Ac.1570C>G (p.Pro524Ala)
c.778C>G (p.Pro260Ala)
19g.45804335G=CA2338614981RSPH6Ac.1570C= (p.Pro524=)
c.778C= (p.Pro260=)
19g.45804335G>TCA406404739RSPH6Ac.1570C>A (p.Pro524Thr)
c.778C>A (p.Pro260Thr)
19g.45804336G>ACA507828602RSPH6Ac.1569C>T (p.Asn523=)
c.777C>T (p.Asn259=)
 dbSNP gnomAD v4
19g.45804336G>CCA406404740RSPH6Ac.1569C>G (p.Asn523Lys)
c.777C>G (p.Asn259Lys)
19g.45804336G=CA2338614982RSPH6Ac.1569C= (p.Asn523=)
c.777C= (p.Asn259=)
19g.45804336G>TCA9522635RSPH6Ac.1569C>A (p.Asn523Lys)
c.777C>A (p.Asn259Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804337T>ACA406404741RSPH6Ac.1568A>T (p.Asn523Ile)
c.776A>T (p.Asn259Ile)
19g.45804337T>CCA406404742RSPH6Ac.1568A>G (p.Asn523Ser)
c.776A>G (p.Asn259Ser)
19g.45804337T>GCA406404743RSPH6Ac.1568A>C (p.Asn523Thr)
c.776A>C (p.Asn259Thr)
19g.45804338T>ACA406404744RSPH6Ac.1567A>T (p.Asn523Tyr)
c.775A>T (p.Asn259Tyr)
19g.45804338T>CCA406404745RSPH6Ac.1567A>G (p.Asn523Asp)
c.775A>G (p.Asn259Asp)
19g.45804338T>GCA406404746RSPH6Ac.1567A>C (p.Asn523His)
c.775A>C (p.Asn259His)
19g.45804339C>ACA406404748RSPH6Ac.1566G>T (p.Glu522Asp)
c.774G>T (p.Glu258Asp)
19g.45804339C>GCA406404747RSPH6Ac.1566G>C (p.Glu522Asp)
c.774G>C (p.Glu258Asp)
19g.45804339C>TCA507965284RSPH6Ac.1566G>A (p.Glu522=)
c.774G>A (p.Glu258=)
19g.45804342_45804344delCA2585869017RSPH6Ac.1564_1566del (p.Glu522del)
c.772_774del (p.Glu258del)
 gnomAD v4
19g.45804340T>ACA406404749RSPH6Ac.1565A>T (p.Glu522Val)
c.773A>T (p.Glu258Val)
19g.45804340T>CCA406404750RSPH6Ac.1565A>G (p.Glu522Gly)
c.773A>G (p.Glu258Gly)
19g.45804340T>GCA406404751RSPH6Ac.1565A>C (p.Glu522Ala)
c.773A>C (p.Glu258Ala)
19g.45804341C>ACA406404752RSPH6Ac.1564G>T (p.Glu522Ter)
c.772G>T (p.Glu258Ter)
19g.45804341C>GCA406404753RSPH6Ac.1564G>C (p.Glu522Gln)
c.772G>C (p.Glu258Gln)
19g.45804341C>TCA406404754RSPH6Ac.1564G>A (p.Glu522Lys)
c.772G>A (p.Glu258Lys)
19g.45804342C>ACA406404755RSPH6Ac.1563G>T (p.Glu521Asp)
c.771G>T (p.Glu257Asp)
19g.45804342C>GCA406404756RSPH6Ac.1563G>C (p.Glu521Asp)
c.771G>C (p.Glu257Asp)
19g.45804342C>TCA507965292RSPH6Ac.1563G>A (p.Glu521=)
c.771G>A (p.Glu257=)
19g.45804343_45804344delCA507965290RSPH6Ac.1562_1563del (p.Glu521GlyfsTer?)
c.770_771del (p.Glu257GlyfsTer?)
19g.45804343T>ACA406404757RSPH6Ac.1562A>T (p.Glu521Val)
c.770A>T (p.Glu257Val)
19g.45804343T>CCA406404758RSPH6Ac.1562A>G (p.Glu521Gly)
c.770A>G (p.Glu257Gly)
 gnomAD v4
19g.45804343T>GCA406404759RSPH6Ac.1562A>C (p.Glu521Ala)
c.770A>C (p.Glu257Ala)
19g.45804344C>ACA406404760RSPH6Ac.1561G>T (p.Glu521Ter)
c.769G>T (p.Glu257Ter)
 dbSNP gnomAD v4
19g.45804344C=CA2338614983RSPH6Ac.1561G= (p.Glu521=)
c.769G= (p.Glu257=)
19g.45804344C>GCA406404761RSPH6Ac.1561G>C (p.Glu521Gln)
c.769G>C (p.Glu257Gln)
19g.45804344C>TCA9522636RSPH6Ac.1561G>A (p.Glu521Lys)
c.769G>A (p.Glu257Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.45804345G>ACA9522637RSPH6Ac.1560C>T (p.Tyr520=)
c.768C>T (p.Tyr256=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804345G>CCA406404762RSPH6Ac.1560C>G (p.Tyr520Ter)
c.768C>G (p.Tyr256Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.45804345G=CA2338614984RSPH6Ac.1560C= (p.Tyr520=)
c.768C= (p.Tyr256=)
19g.45804345G>TCA406404763RSPH6Ac.1560C>A (p.Tyr520Ter)
c.768C>A (p.Tyr256Ter)
 gnomAD v4
19g.45804346T>ACA406404764RSPH6Ac.1559A>T (p.Tyr520Phe)
c.767A>T (p.Tyr256Phe)
19g.45804346T>CCA9522638RSPH6Ac.1559A>G (p.Tyr520Cys)
c.767A>G (p.Tyr256Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804346T>GCA406404765RSPH6Ac.1559A>C (p.Tyr520Ser)
c.767A>C (p.Tyr256Ser)
19g.45804346T=CA2338614985RSPH6Ac.1559A= (p.Tyr520=)
c.767A= (p.Tyr256=)
19g.45804346_45804353delCA507965298RSPH6Ac.1552_1559del (p.Asp518ArgfsTer?)
c.760_767del (p.Asp254ArgfsTer?)
19g.45804347A>CCA406404766RSPH6Ac.1558T>G (p.Tyr520Asp)
c.766T>G (p.Tyr256Asp)
19g.45804347A>GCA406404767RSPH6Ac.1558T>C (p.Tyr520His)
c.766T>C (p.Tyr256His)
 COSMIC
19g.45804347A>TCA406404768RSPH6Ac.1558T>A (p.Tyr520Asn)
c.766T>A (p.Tyr256Asn)
19g.45804348G>ACA507965302RSPH6Ac.1557C>T (p.Ser519=)
c.765C>T (p.Ser255=)
19g.45804348G>CCA507965303RSPH6Ac.1557C>G (p.Ser519=)
c.765C>G (p.Ser255=)
19g.45804348G>TCA507965305RSPH6Ac.1557C>A (p.Ser519=)
c.765C>A (p.Ser255=)
19g.45804349delCA2585869018RSPH6Ac.1557del (p.Tyr520ThrfsTer?)
c.765del (p.Tyr256ThrfsTer?)
 gnomAD v4
19g.45804349G>ACA406404769RSPH6Ac.1556C>T (p.Ser519Phe)
c.764C>T (p.Ser255Phe)
 gnomAD v4 COSMIC
19g.45804349G>CCA406404770RSPH6Ac.1556C>G (p.Ser519Cys)
c.764C>G (p.Ser255Cys)
19g.45804349G>TCA406404771RSPH6Ac.1556C>A (p.Ser519Tyr)
c.764C>A (p.Ser255Tyr)
19g.45804350A>CCA406404774RSPH6Ac.1555T>G (p.Ser519Ala)
c.763T>G (p.Ser255Ala)
19g.45804350A>GCA406404772RSPH6Ac.1555T>C (p.Ser519Pro)
c.763T>C (p.Ser255Pro)
 gnomAD v4
19g.45804350A>TCA406404773RSPH6Ac.1555T>A (p.Ser519Thr)
c.763T>A (p.Ser255Thr)
19g.45804351G>ACA507965309RSPH6Ac.1554C>T (p.Asp518=)
c.762C>T (p.Asp254=)
19g.45804351G>CCA406404775RSPH6Ac.1554C>G (p.Asp518Glu)
c.762C>G (p.Asp254Glu)
19g.45804351G>TCA406404776RSPH6Ac.1554C>A (p.Asp518Glu)
c.762C>A (p.Asp254Glu)
19g.45804351_45804355delinsGTCGCCA2338614987RSPH6Ac.1550_1554delinsGCGAC (p.Arg517=)
c.758_762delinsGCGAC (p.Arg253=)
19g.45804351_45804357delinsGTCGCGCCA2338614986RSPH6Ac.1548_1554delinsGCGCGAC (p.Gly516=)
c.756_762delinsGCGCGAC (p.Gly252=)
19g.45804352T>ACA406404777RSPH6Ac.1553A>T (p.Asp518Val)
c.761A>T (p.Asp254Val)
19g.45804352T>CCA406404778RSPH6Ac.1553A>G (p.Asp518Gly)
c.761A>G (p.Asp254Gly)
19g.45804352T>GCA406404779RSPH6Ac.1553A>C (p.Asp518Ala)
c.761A>C (p.Asp254Ala)
19g.45804352_45804355delCA882763146RSPH6Ac.1550_1553del (p.Arg517ProfsTer?)
c.758_761del (p.Arg253ProfsTer?)
 dbSNP
19g.45804352_45804357delCA9522639RSPH6Ac.1548_1553del (p.Arg517_Asp518del)
c.756_761del (p.Arg253_Asp254del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804353C>ACA406404780RSPH6Ac.1552G>T (p.Asp518Tyr)
c.760G>T (p.Asp254Tyr)
 dbSNP gnomAD v3 gnomAD v4
19g.45804353C=CA2338614988RSPH6Ac.1552G= (p.Asp518=)
c.760G= (p.Asp254=)
19g.45804353C>GCA406404781RSPH6Ac.1552G>C (p.Asp518His)
c.760G>C (p.Asp254His)
19g.45804353C>TCA406404782RSPH6Ac.1552G>A (p.Asp518Asn)
c.760G>A (p.Asp254Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.45804354G>ACA9522640RSPH6Ac.1551C>T (p.Arg517=)
c.759C>T (p.Arg253=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804354G>CCA507965317RSPH6Ac.1551C>G (p.Arg517=)
c.759C>G (p.Arg253=)
19g.45804354G=CA2338614989RSPH6Ac.1551C= (p.Arg517=)
c.759C= (p.Arg253=)
19g.45804354G>TCA507965370RSPH6Ac.1551C>A (p.Arg517=)
c.759C>A (p.Arg253=)
19g.45804355C>ACA406404783RSPH6Ac.1550G>T (p.Arg517Leu)
c.758G>T (p.Arg253Leu)
19g.45804355C=CA2338614990RSPH6Ac.1550G= (p.Arg517=)
c.758G= (p.Arg253=)
19g.45804355C>GCA406404784RSPH6Ac.1550G>C (p.Arg517Pro)
c.758G>C (p.Arg253Pro)
19g.45804355C>TCA406404785RSPH6Ac.1550G>A (p.Arg517His)
c.758G>A (p.Arg253His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804356G>ACA9522641RSPH6Ac.1549C>T (p.Arg517Cys)
c.757C>T (p.Arg253Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804356G>CCA406404787RSPH6Ac.1549C>G (p.Arg517Gly)
c.757C>G (p.Arg253Gly)
19g.45804356G=CA2338614991RSPH6Ac.1549C= (p.Arg517=)
c.757C= (p.Arg253=)
19g.45804356G>TCA406404786RSPH6Ac.1549C>A (p.Arg517Ser)
c.757C>A (p.Arg253Ser)
 dbSNP gnomAD v4
19g.45804357C>ACA507965376RSPH6Ac.1548G>T (p.Gly516=)
c.756G>T (p.Gly252=)
 dbSNP
19g.45804357C=CA2338614992RSPH6Ac.1548G= (p.Gly516=)
c.756G= (p.Gly252=)
19g.45804357C>GCA507965380RSPH6Ac.1548G>C (p.Gly516=)
c.756G>C (p.Gly252=)
19g.45804357C>TCA507965381RSPH6Ac.1548G>A (p.Gly516=)
c.756G>A (p.Gly252=)
19g.45804357_45804358insAACA9522642RSPH6Ac.1547_1548insTT (p.Arg517CysfsTer?)
c.755_756insTT (p.Arg253CysfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804358C>ACA406404788RSPH6Ac.1547G>T (p.Gly516Val)
c.755G>T (p.Gly252Val)
19g.45804358C>GCA406404789RSPH6Ac.1547G>C (p.Gly516Ala)
c.755G>C (p.Gly252Ala)
19g.45804358C>TCA406404790RSPH6Ac.1547G>A (p.Gly516Glu)
c.755G>A (p.Gly252Glu)
 COSMIC
19g.45804359C>ACA406404791RSPH6Ac.1546G>T (p.Gly516Trp)
c.754G>T (p.Gly252Trp)
19g.45804359C=CA2338614993RSPH6Ac.1546G= (p.Gly516=)
c.754G= (p.Gly252=)
19g.45804359C>GCA406404792RSPH6Ac.1546G>C (p.Gly516Arg)
c.754G>C (p.Gly252Arg)
19g.45804359C>TCA9522643RSPH6Ac.1546G>A (p.Gly516Arg)
c.754G>A (p.Gly252Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804360A=CA2338614994RSPH6Ac.1545T= (p.Ala515=)
c.753T= (p.Ala251=)
19g.45804360A>CCA507965382RSPH6Ac.1545T>G (p.Ala515=)
c.753T>G (p.Ala251=)
19g.45804360A>GCA9522644RSPH6Ac.1545T>C (p.Ala515=)
c.753T>C (p.Ala251=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804360A>TCA507965383RSPH6Ac.1545T>A (p.Ala515=)
c.753T>A (p.Ala251=)
 dbSNP gnomAD v4
19g.45804361G>ACA308997053RSPH6Ac.1544C>T (p.Ala515Val)
c.752C>T (p.Ala251Val)
 dbSNP gnomAD v3 gnomAD v4
19g.45804361G>CCA9522645RSPH6Ac.1544C>G (p.Ala515Gly)
c.752C>G (p.Ala251Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804361G=CA2338614995RSPH6Ac.1544C= (p.Ala515=)
c.752C= (p.Ala251=)
19g.45804361G>TCA406404793RSPH6Ac.1544C>A (p.Ala515Asp)
c.752C>A (p.Ala251Asp)
19g.45804362C>ACA406404794RSPH6Ac.1543G>T (p.Ala515Ser)
c.751G>T (p.Ala251Ser)
19g.45804362C=CA2338614997RSPH6Ac.1543G= (p.Ala515=)
c.751G= (p.Ala251=)
19g.45804362C>GCA406404795RSPH6Ac.1543G>C (p.Ala515Pro)
c.751G>C (p.Ala251Pro)
19g.45804362C>TCA9522646RSPH6Ac.1543G>A (p.Ala515Thr)
c.751G>A (p.Ala251Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804362dupCA2338614996RSPH6Ac.1543dup (p.Ala515GlyfsTer?)
c.751dup (p.Ala251GlyfsTer?)
 dbSNP gnomAD v4
19g.45804363A>CCA507965385RSPH6Ac.1542T>G (p.Gly514=)
c.750T>G (p.Gly250=)
19g.45804363A>GCA507965389RSPH6Ac.1542T>C (p.Gly514=)
c.750T>C (p.Gly250=)
19g.45804363A>TCA507965387RSPH6Ac.1542T>A (p.Gly514=)
c.750T>A (p.Gly250=)
19g.45804364C>ACA406404797RSPH6Ac.1541G>T (p.Gly514Val)
c.749G>T (p.Gly250Val)
19g.45804364C=CA2338614998RSPH6Ac.1541G= (p.Gly514=)
c.749G= (p.Gly250=)
19g.45804364C>GCA406404796RSPH6Ac.1541G>C (p.Gly514Ala)
c.749G>C (p.Gly250Ala)
19g.45804364C>TCA9522647RSPH6Ac.1541G>A (p.Gly514Asp)
c.749G>A (p.Gly250Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804365C>ACA406404798RSPH6Ac.1540G>T (p.Gly514Cys)
c.748G>T (p.Gly250Cys)
19g.45804365C>GCA406404799RSPH6Ac.1540G>C (p.Gly514Arg)
c.748G>C (p.Gly250Arg)
19g.45804365C>TCA406404800RSPH6Ac.1540G>A (p.Gly514Ser)
c.748G>A (p.Gly250Ser)
 gnomAD v4
19g.45804366A>CCA507965394RSPH6Ac.1539T>G (p.Gly513=)
c.747T>G (p.Gly249=)
19g.45804366A>GCA507965396RSPH6Ac.1539T>C (p.Gly513=)
c.747T>C (p.Gly249=)
19g.45804366A>TCA507965398RSPH6Ac.1539T>A (p.Gly513=)
c.747T>A (p.Gly249=)
19g.45804367C>ACA9522648RSPH6Ac.1538G>T (p.Gly513Val)
c.746G>T (p.Gly249Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804367C=CA2338614999RSPH6Ac.1538G= (p.Gly513=)
c.746G= (p.Gly249=)
19g.45804367C>GCA406404801RSPH6Ac.1538G>C (p.Gly513Ala)
c.746G>C (p.Gly249Ala)
19g.45804367C>TCA9522649RSPH6Ac.1538G>A (p.Gly513Asp)
c.746G>A (p.Gly249Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804368C>ACA406404802RSPH6Ac.1537G>T (p.Gly513Cys)
c.745G>T (p.Gly249Cys)
19g.45804368C>GCA406404803RSPH6Ac.1537G>C (p.Gly513Arg)
c.745G>C (p.Gly249Arg)
19g.45804368C>TCA406404804RSPH6Ac.1537G>A (p.Gly513Ser)
c.745G>A (p.Gly249Ser)
19g.45804369T>ACA406404805RSPH6Ac.1536A>T (p.Glu512Asp)
c.744A>T (p.Glu248Asp)
19g.45804369T>CCA507965405RSPH6Ac.1536A>G (p.Glu512=)
c.744A>G (p.Glu248=)
19g.45804369T>GCA406404806RSPH6Ac.1536A>C (p.Glu512Asp)
c.744A>C (p.Glu248Asp)
19g.45804369_45804372delinsTTCCCA2338615000RSPH6Ac.1533_1536delinsGGAA (p.Glu511=)
c.741_744delinsGGAA (p.Glu247=)
19g.45804370T>ACA406404808RSPH6Ac.1535A>T (p.Glu512Val)
c.743A>T (p.Glu248Val)
19g.45804370T>CCA406404809RSPH6Ac.1535A>G (p.Glu512Gly)
c.743A>G (p.Glu248Gly)
19g.45804370T>GCA406404807RSPH6Ac.1535A>C (p.Glu512Ala)
c.743A>C (p.Glu248Ala)
19g.45804378_45804380delCA9522650RSPH6Ac.1533_1535del (p.Glu512del)
c.741_743del (p.Glu248del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804371C>ACA406404810RSPH6Ac.1534G>T (p.Glu512Ter)
c.742G>T (p.Glu248Ter)
19g.45804371C>GCA406404811RSPH6Ac.1534G>C (p.Glu512Gln)
c.742G>C (p.Glu248Gln)
19g.45804371C>TCA406404812RSPH6Ac.1534G>A (p.Glu512Lys)
c.742G>A (p.Glu248Lys)
19g.45804372C>ACA406404813RSPH6Ac.1533G>T (p.Glu511Asp)
c.741G>T (p.Glu247Asp)
19g.45804372C=CA2338615001RSPH6Ac.1533G= (p.Glu511=)
c.741G= (p.Glu247=)
19g.45804372C>GCA406404814RSPH6Ac.1533G>C (p.Glu511Asp)
c.741G>C (p.Glu247Asp)
19g.45804372C>TCA9522651RSPH6Ac.1533G>A (p.Glu511=)
c.741G>A (p.Glu247=)
 dbSNP ExAC gnomAD v2
19g.45804373T>ACA406404817RSPH6Ac.1532A>T (p.Glu511Val)
c.740A>T (p.Glu247Val)
19g.45804373T>CCA406404815RSPH6Ac.1532A>G (p.Glu511Gly)
c.740A>G (p.Glu247Gly)
19g.45804373T>GCA406404816RSPH6Ac.1532A>C (p.Glu511Ala)
c.740A>C (p.Glu247Ala)
 dbSNP
19g.45804373T=CA2338615002RSPH6Ac.1532A= (p.Glu511=)
c.740A= (p.Glu247=)
19g.45804374C>ACA406404818RSPH6Ac.1531G>T (p.Glu511Ter)
c.739G>T (p.Glu247Ter)
19g.45804374C=CA2338615003RSPH6Ac.1531G= (p.Glu511=)
c.739G= (p.Glu247=)
19g.45804374C>GCA406404819RSPH6Ac.1531G>C (p.Glu511Gln)
c.739G>C (p.Glu247Gln)
19g.45804374C>TCA308997068RSPH6Ac.1531G>A (p.Glu511Lys)
c.739G>A (p.Glu247Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.45804375C>ACA406404820RSPH6Ac.1530G>T (p.Glu510Asp)
c.738G>T (p.Glu246Asp)
19g.45804375C>GCA406404821RSPH6Ac.1530G>C (p.Glu510Asp)
c.738G>C (p.Glu246Asp)
19g.45804375C>TCA507965419RSPH6Ac.1530G>A (p.Glu510=)
c.738G>A (p.Glu246=)

Number of alleles fetched