Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350064C>ACA376670920RBP3c.1580C>A (p.Pro527Gln)
10g.47350064C=CA1907806086RBP3c.1580C= (p.Pro527=)
10g.47350064C>GCA376670924RBP3c.1580C>G (p.Pro527Arg)
gnomAD v4
10g.47350064C>TCA206463385RBP3c.1580C>T (p.Pro527Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350065G>ACA5487490RBP3c.1581G>A (p.Pro527=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350065G>CCA376670925RBP3c.1581G>C (p.Pro527=)
gnomAD v4
10g.47350065G=CA1907806088RBP3c.1581G= (p.Pro527=)
10g.47350065G>TCA376670926RBP3c.1581G>T (p.Pro527=)
10g.47350066G>ACA5487489RBP3c.1582G>A (p.Gly528Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350066G>CCA206463389RBP3c.1582G>C (p.Gly528Arg)
10g.47350066G=CA1907806090RBP3c.1582G= (p.Gly528=)
10g.47350066G>TCA206463394RBP3c.1582G>T (p.Gly528Cys)
10g.47350067G>ACA376670934RBP3c.1583G>A (p.Gly528Asp)
10g.47350067G>CCA376670933RBP3c.1583G>C (p.Gly528Ala)
gnomAD v4
10g.47350067G>TCA376670931RBP3c.1583G>T (p.Gly528Val)
10g.47350068C>ACA469781932RBP3c.1584C>A (p.Gly528=)
10g.47350068C>GCA469781933RBP3c.1584C>G (p.Gly528=)
10g.47350068C>TCA469781934RBP3c.1584C>T (p.Gly528=)
10g.47350069C>ACA376670936RBP3c.1585C>A (p.Pro529Thr)
10g.47350069C>GCA376670938RBP3c.1585C>G (p.Pro529Ala)
10g.47350069C>TCA376670939RBP3c.1585C>T (p.Pro529Ser)
10g.47350070C>ACA5487488RBP3c.1586C>A (p.Pro529Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350070C=CA1907806093RBP3c.1586C= (p.Pro529=)
10g.47350070C>GCA206463398RBP3c.1586C>G (p.Pro529Arg)
10g.47350070C>TCA206463410RBP3c.1586C>T (p.Pro529Leu)
dbSNP
10g.47350071A=CA1907806095RBP3c.1587A= (p.Pro529=)
10g.47350071A>CCA469781938RBP3c.1587A>C (p.Pro529=)
10g.47350071A>GCA469781939RBP3c.1587A>G (p.Pro529=)
dbSNP gnomAD v2 gnomAD v4
10g.47350071A>TCA469781940RBP3c.1587A>T (p.Pro529=)
10g.47350072C>ACA5487487RBP3c.1588C>A (p.Arg530Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350072C=CA1907806097RBP3c.1588C= (p.Arg530=)
10g.47350072C>GCA376670946RBP3c.1588C>G (p.Arg530Gly)
dbSNP gnomAD v3 gnomAD v4
10g.47350072C>TCA5487486RBP3c.1588C>T (p.Arg530Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350073G>ACA376670947RBP3c.1589G>A (p.Arg530His)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350073G>CCA376670949RBP3c.1589G>C (p.Arg530Pro)
10g.47350073G=CA1907806100RBP3c.1589G= (p.Arg530=)
10g.47350073G>TCA376670950RBP3c.1589G>T (p.Arg530Leu)
dbSNP gnomAD v3 gnomAD v4
10g.47350074C>ACA469781947RBP3c.1590C>A (p.Arg530=)
gnomAD v4
10g.47350074C>GCA469781946RBP3c.1590C>G (p.Arg530=)
10g.47350074C>TCA469781945RBP3c.1590C>T (p.Arg530=)
10g.47350075T>ACA376670953RBP3c.1591T>A (p.Tyr531Asn)
10g.47350075T>CCA376670954RBP3c.1591T>C (p.Tyr531His)
gnomAD v4
10g.47350075T>GCA376670956RBP3c.1591T>G (p.Tyr531Asp)
10g.47350076A>CCA376670959RBP3c.1592A>C (p.Tyr531Ser)
10g.47350076A>GCA376670960RBP3c.1592A>G (p.Tyr531Cys)
10g.47350076A>TCA376670961RBP3c.1592A>T (p.Tyr531Phe)
10g.47350077C>ACA376670963RBP3c.1593C>A (p.Tyr531Ter)
gnomAD v4
10g.47350077C=CA1907806102RBP3c.1593C= (p.Tyr531=)
10g.47350077C>GCA376670966RBP3c.1593C>G (p.Tyr531Ter)
gnomAD v4
10g.47350077C>TCA469781948RBP3c.1593C>T (p.Tyr531=)
dbSNP
10g.47350078A>CCA376670969RBP3c.1594A>C (p.Ser532Arg)
10g.47350078A>GCA376670972RBP3c.1594A>G (p.Ser532Gly)
gnomAD v4
10g.47350078A>TCA376670971RBP3c.1594A>T (p.Ser532Cys)
10g.47350079G>ACA376670974RBP3c.1595G>A (p.Ser532Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350079G>CCA376670975RBP3c.1595G>C (p.Ser532Thr)
10g.47350079G=CA1907806104RBP3c.1595G= (p.Ser532=)
10g.47350079G>TCA376670977RBP3c.1595G>T (p.Ser532Ile)
10g.47350080C>ACA376670979RBP3c.1596C>A (p.Ser532Arg)
dbSNP gnomAD v2 gnomAD v4
10g.47350080C=CA1907806105RBP3c.1596C= (p.Ser532=)
10g.47350080C>GCA376670981RBP3c.1596C>G (p.Ser532Arg)
10g.47350080C>TCA469781958RBP3c.1596C>T (p.Ser532=)
10g.47350081A>CCA376670983RBP3c.1597A>C (p.Thr533Pro)
10g.47350081A>GCA376670984RBP3c.1597A>G (p.Thr533Ala)
10g.47350081A>TCA376670985RBP3c.1597A>T (p.Thr533Ser)
10g.47350082C>ACA376670986RBP3c.1598C>A (p.Thr533Asn)
10g.47350082C>GCA376670987RBP3c.1598C>G (p.Thr533Ser)
10g.47350082C>TCA376670989RBP3c.1598C>T (p.Thr533Ile)
gnomAD v4
10g.47350083C>ACA469781959RBP3c.1599C>A (p.Thr533=)
10g.47350083C=CA1907806107RBP3c.1599C= (p.Thr533=)
10g.47350083C>GCA469781960RBP3c.1599C>G (p.Thr533=)
10g.47350083C>TCA469781962RBP3c.1599C>T (p.Thr533=)
ClinVar dbSNP gnomAD v4
10g.47350084C>ACA376670993RBP3c.1600C>A (p.Gln534Lys)
10g.47350084C>GCA376670990RBP3c.1600C>G (p.Gln534Glu)
10g.47350084C>TCA376670992RBP3c.1600C>T (p.Gln534Ter)
10g.47350085A>CCA376670995RBP3c.1601A>C (p.Gln534Pro)
10g.47350085A>GCA376670997RBP3c.1601A>G (p.Gln534Arg)
10g.47350085A>TCA376670998RBP3c.1601A>T (p.Gln534Leu)
10g.47350086A=CA1907806109RBP3c.1602A= (p.Gln534=)
10g.47350086A>CCA376670999RBP3c.1602A>C (p.Gln534His)
gnomAD v4
10g.47350086A>GCA469781973RBP3c.1602A>G (p.Gln534=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350086A>TCA376671001RBP3c.1602A>T (p.Gln534His)
10g.47350087C>ACA376671004RBP3c.1603C>A (p.Arg535Ser)
10g.47350087C=CA1907806112RBP3c.1603C= (p.Arg535=)
10g.47350087C>GCA5487485RBP3c.1603C>G (p.Arg535Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350087C>TCA350909RBP3c.1603C>T (p.Arg535Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350088G>ACA5487484RBP3c.1604G>A (p.Arg535His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350088G>CCA206463411RBP3c.1604G>C (p.Arg535Pro)
10g.47350088G=CA1907806115RBP3c.1604G= (p.Arg535=)
10g.47350088G>TCA206463412RBP3c.1604G>T (p.Arg535Leu)
gnomAD v4
10g.47350089T>ACA469781981RBP3c.1605T>A (p.Arg535=)
10g.47350089T>CCA469781979RBP3c.1605T>C (p.Arg535=)
gnomAD v4
10g.47350089T>GCA469781977RBP3c.1605T>G (p.Arg535=)
10g.47350090G>ACA376671009RBP3c.1606G>A (p.Gly536Arg)
10g.47350090G>CCA376671010RBP3c.1606G>C (p.Gly536Arg)
dbSNP gnomAD v4
10g.47350090G=CA1907806117RBP3c.1606G= (p.Gly536=)
10g.47350090G>TCA376671007RBP3c.1606G>T (p.Gly536Trp)
dbSNP
10g.47350093dupCA2609024843RBP3c.1609dup (p.Val537GlyfsTer?)
gnomAD v4
10g.47350091G>ACA5487483RBP3c.1607G>A (p.Gly536Glu)
dbSNP ExAC gnomAD v4
10g.47350091G>CCA206463416RBP3c.1607G>C (p.Gly536Ala)
10g.47350091G=CA1907806119RBP3c.1607G= (p.Gly536=)
10g.47350091G>TCA206463413RBP3c.1607G>T (p.Gly536Val)
10g.47350092G>ACA5487482RBP3c.1608G>A (p.Gly536=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350092G>CCA376671015RBP3c.1608G>C (p.Gly536=)
10g.47350092G=CA1907806121RBP3c.1608G= (p.Gly536=)
10g.47350092G>TCA376671017RBP3c.1608G>T (p.Gly536=)
dbSNP gnomAD v2 gnomAD v4
10g.47350093_47350095delCA2609024844RBP3c.1609_1611del (p.Val537del)
gnomAD v4
10g.47350093G>ACA376671022RBP3c.1609G>A (p.Val537Met)
dbSNP gnomAD v2 gnomAD v4
10g.47350093G>CCA376671021RBP3c.1609G>C (p.Val537Leu)
gnomAD v4
10g.47350093G=CA1907806123RBP3c.1609G= (p.Val537=)
10g.47350093G>TCA376671019RBP3c.1609G>T (p.Val537Leu)
dbSNP gnomAD v2 gnomAD v4
10g.47350094T>ACA376671025RBP3c.1610T>A (p.Val537Glu)
10g.47350094T>CCA376671026RBP3c.1610T>C (p.Val537Ala)
dbSNP gnomAD v4
10g.47350094T>GCA376671027RBP3c.1610T>G (p.Val537Gly)
10g.47350095G>ACA469782001RBP3c.1611G>A (p.Val537=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.47350095G>CCA469782002RBP3c.1611G>C (p.Val537=)
10g.47350095G=CA1907806124RBP3c.1611G= (p.Val537=)
10g.47350095G>TCA469782003RBP3c.1611G>T (p.Val537=)
gnomAD v4
10g.47350096T>ACA206463423RBP3c.1612T>A (p.Tyr538Asn)
dbSNP
10g.47350096T>CCA5487481RBP3c.1612T>C (p.Tyr538His)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350096T>GCA206463428RBP3c.1612T>G (p.Tyr538Asp)
dbSNP
10g.47350096T=CA1907806126RBP3c.1612T= (p.Tyr538=)
10g.47350097A=CA1907806129RBP3c.1613A= (p.Tyr538=)
10g.47350097A>CCA206463431RBP3c.1613A>C (p.Tyr538Ser)
10g.47350097A>GCA5487480RBP3c.1613A>G (p.Tyr538Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350097A>TCA206463439RBP3c.1613A>T (p.Tyr538Phe)
10g.47350098T>ACA376671033RBP3c.1614T>A (p.Tyr538Ter)
10g.47350098T>CCA469782010RBP3c.1614T>C (p.Tyr538=)
dbSNP gnomAD v2 gnomAD v4
10g.47350098T>GCA376671034RBP3c.1614T>G (p.Tyr538Ter)
10g.47350098T=CA1907806131RBP3c.1614T= (p.Tyr538=)
10g.47350099C>ACA206463442RBP3c.1615C>A (p.Leu539Met)
10g.47350099C=CA1907806133RBP3c.1615C= (p.Leu539=)
10g.47350099C>GCA206463448RBP3c.1615C>G (p.Leu539Val)
10g.47350099C>TCA5487479RBP3c.1615C>T (p.Leu539=)
dbSNP ExAC gnomAD v2
10g.47350100T>ACA376671036RBP3c.1616T>A (p.Leu539Gln)
10g.47350100T>CCA376671038RBP3c.1616T>C (p.Leu539Pro)
10g.47350100T>GCA376671039RBP3c.1616T>G (p.Leu539Arg)
10g.47350101G>ACA469782015RBP3c.1617G>A (p.Leu539=)
ClinVar dbSNP
10g.47350101G>CCA469782017RBP3c.1617G>C (p.Leu539=)
10g.47350101G>TCA469782019RBP3c.1617G>T (p.Leu539=)
10g.47350102C>ACA376671042RBP3c.1618C>A (p.Leu540Ile)
10g.47350102C=CA1907806134RBP3c.1618C= (p.Leu540=)
10g.47350102C>GCA376671043RBP3c.1618C>G (p.Leu540Val)
10g.47350102C>TCA5487478RBP3c.1618C>T (p.Leu540Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350103T>ACA376671047RBP3c.1619T>A (p.Leu540His)
gnomAD v4
10g.47350103T>CCA206463451RBP3c.1619T>C (p.Leu540Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350103T>GCA376671045RBP3c.1619T>G (p.Leu540Arg)
10g.47350103T=CA1907806136RBP3c.1619T= (p.Leu540=)
10g.47350104C>ACA469782027RBP3c.1620C>A (p.Leu540=)
10g.47350104C>GCA469782025RBP3c.1620C>G (p.Leu540=)
10g.47350104C>TCA469782026RBP3c.1620C>T (p.Leu540=)
ClinVar dbSNP
10g.47350105A>CCA376671049RBP3c.1621A>C (p.Thr541Pro)
10g.47350105A>GCA376671051RBP3c.1621A>G (p.Thr541Ala)
10g.47350105A>TCA376671052RBP3c.1621A>T (p.Thr541Ser)
10g.47350106C>ACA376671054RBP3c.1622C>A (p.Thr541Asn)
10g.47350106C>GCA376671056RBP3c.1622C>G (p.Thr541Ser)
10g.47350106C>TCA376671057RBP3c.1622C>T (p.Thr541Ile)
10g.47350107C>ACA469782040RBP3c.1623C>A (p.Thr541=)
10g.47350107C=CA1907806138RBP3c.1623C= (p.Thr541=)
10g.47350107C>GCA469782039RBP3c.1623C>G (p.Thr541=)
10g.47350107C>TCA469782038RBP3c.1623C>T (p.Thr541=)
ClinVar dbSNP
10g.47350108A>CCA376671060RBP3c.1624A>C (p.Ser542Arg)
10g.47350108A>GCA376671058RBP3c.1624A>G (p.Ser542Gly)
10g.47350108A>TCA376671059RBP3c.1624A>T (p.Ser542Cys)
10g.47350109G>ACA376671061RBP3c.1625G>A (p.Ser542Asn)
gnomAD v4
10g.47350109G>CCA376671062RBP3c.1625G>C (p.Ser542Thr)
10g.47350109G>TCA376671064RBP3c.1625G>T (p.Ser542Ile)
gnomAD v4
10g.47350110C>ACA376671066RBP3c.1626C>A (p.Ser542Arg)
dbSNP gnomAD v4
10g.47350110C=CA1907806140RBP3c.1626C= (p.Ser542=)
10g.47350110C>GCA376671068RBP3c.1626C>G (p.Ser542Arg)
10g.47350110C>TCA469782046RBP3c.1626C>T (p.Ser542=)
dbSNP gnomAD v4
10g.47350111C>ACA376671069RBP3c.1627C>A (p.His543Asn)
10g.47350111C=CA1907806142RBP3c.1627C= (p.His543=)
10g.47350111C>GCA376671072RBP3c.1627C>G (p.His543Asp)
10g.47350111C>TCA376671071RBP3c.1627C>T (p.His543Tyr)
dbSNP gnomAD v4
10g.47350112A=CA1907806143RBP3c.1628A= (p.His543=)
10g.47350112A>CCA376671074RBP3c.1628A>C (p.His543Pro)
dbSNP gnomAD v4
10g.47350112A>GCA376671076RBP3c.1628A>G (p.His543Arg)
dbSNP
10g.47350112A>TCA376671078RBP3c.1628A>T (p.His543Leu)
10g.47350113C>ACA376671080RBP3c.1629C>A (p.His543Gln)
10g.47350113C=CA1907806145RBP3c.1629C= (p.His543=)
10g.47350113C>GCA376671082RBP3c.1629C>G (p.His543Gln)
10g.47350113C>TCA469782053RBP3c.1629C>T (p.His543=)
dbSNP
10g.47350114C>ACA206463486RBP3c.1630C>A (p.Arg544Ser)
10g.47350114C=CA1907806146RBP3c.1630C= (p.Arg544=)
10g.47350114C>GCA206463464RBP3c.1630C>G (p.Arg544Gly)
10g.47350114C>TCA5487477RBP3c.1630C>T (p.Arg544Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350115G>ACA147601RBP3c.1631G>A (p.Arg544His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350115G>CCA5487476RBP3c.1631G>C (p.Arg544Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350115G=CA1907806149RBP3c.1631G= (p.Arg544=)
10g.47350115G>TCA376671088RBP3c.1631G>T (p.Arg544Leu)
ClinVar dbSNP
10g.47350116C>ACA469782054RBP3c.1632C>A (p.Arg544=)
10g.47350116C>GCA469782055RBP3c.1632C>G (p.Arg544=)
10g.47350116C>TCA469782057RBP3c.1632C>T (p.Arg544=)
gnomAD v4
10g.47350117A=CA1907806152RBP3c.1633A= (p.Thr545=)
10g.47350117A>CCA376671092RBP3c.1633A>C (p.Thr545Pro)
dbSNP
10g.47350117A>GCA376671090RBP3c.1633A>G (p.Thr545Ala)
gnomAD v4
10g.47350117A>TCA376671089RBP3c.1633A>T (p.Thr545Ser)
dbSNP
10g.47350118C>ACA376671094RBP3c.1634C>A (p.Thr545Asn)
10g.47350118C>GCA376671097RBP3c.1634C>G (p.Thr545Ser)
10g.47350118C>TCA376671096RBP3c.1634C>T (p.Thr545Ile)
gnomAD v4
10g.47350119C>ACA5487474RBP3c.1635C>A (p.Thr545=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350119C=CA1907806155RBP3c.1635C= (p.Thr545=)
10g.47350119C>GCA376671101RBP3c.1635C>G (p.Thr545=)
10g.47350119C>TCA5487475RBP3c.1635C>T (p.Thr545=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350120G>ACA5487473RBP3c.1636G>A (p.Ala546Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350120G>CCA376671102RBP3c.1636G>C (p.Ala546Pro)
10g.47350120G=CA1907806161RBP3c.1636G= (p.Ala546=)
10g.47350120G>TCA376671104RBP3c.1636G>T (p.Ala546Ser)
10g.47350120_47350121delinsAACA1139661429RBP3c.1636_1637delinsAA (p.Ala546Asn)
ClinVar dbSNP
10g.47350120_47350121delinsGCCA1907806159RBP3c.1636_1637delinsGC (p.Ala546=)
10g.47350121C>ACA376671106RBP3c.1637C>A (p.Ala546Asp)
dbSNP gnomAD v3 gnomAD v4
10g.47350121C=CA1907806163RBP3c.1637C= (p.Ala546=)
10g.47350121C>GCA376671108RBP3c.1637C>G (p.Ala546Gly)
10g.47350121C>TCA376671109RBP3c.1637C>T (p.Ala546Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350122C>ACA469782072RBP3c.1638C>A (p.Ala546=)
dbSNP
10g.47350122C>GCA469782071RBP3c.1638C>G (p.Ala546=)
10g.47350122C>TCA469782070RBP3c.1638C>T (p.Ala546=)
dbSNP
10g.47350123A=CA1907806165RBP3c.1639A= (p.Thr547=)
10g.47350123A>CCA376671110RBP3c.1639A>C (p.Thr547Pro)
10g.47350123A>GCA376671112RBP3c.1639A>G (p.Thr547Ala)
ClinVar dbSNP gnomAD v4
10g.47350123A>TCA376671114RBP3c.1639A>T (p.Thr547Ser)
dbSNP
10g.47350124C>ACA376671115RBP3c.1640C>A (p.Thr547Lys)
dbSNP gnomAD v2
10g.47350124C=CA1907806167RBP3c.1640C= (p.Thr547=)
10g.47350124C>GCA376671116RBP3c.1640C>G (p.Thr547Arg)
10g.47350124C>TCA5487472RBP3c.1640C>T (p.Thr547Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350125G>ACA5487471RBP3c.1641G>A (p.Thr547=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350125G>CCA376671119RBP3c.1641G>C (p.Thr547=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350125G=CA1907806170RBP3c.1641G= (p.Thr547=)
10g.47350125G>TCA376671117RBP3c.1641G>T (p.Thr547=)
dbSNP gnomAD v2 gnomAD v4
10g.47350126G>ACA376671120RBP3c.1642G>A (p.Ala548Thr)
dbSNP
10g.47350126G>CCA376671122RBP3c.1642G>C (p.Ala548Pro)
gnomAD v4
10g.47350126G>TCA376671123RBP3c.1642G>T (p.Ala548Ser)
10g.47350127C>ACA376671125RBP3c.1643C>A (p.Ala548Asp)
10g.47350127C>GCA376671126RBP3c.1643C>G (p.Ala548Gly)
10g.47350127C>TCA376671128RBP3c.1643C>T (p.Ala548Val)
dbSNP
10g.47350128C>ACA206463493RBP3c.1644C>A (p.Ala548=)
10g.47350128C=CA1907806173RBP3c.1644C= (p.Ala548=)
10g.47350128C>GCA206463489RBP3c.1644C>G (p.Ala548=)
10g.47350128C>TCA5487470RBP3c.1644C>T (p.Ala548=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350129G>ACA5487469RBP3c.1645G>A (p.Ala549Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350129G>CCA376671131RBP3c.1645G>C (p.Ala549Pro)
10g.47350129G=CA1907806175RBP3c.1645G= (p.Ala549=)
10g.47350129G>TCA376671133RBP3c.1645G>T (p.Ala549Ser)
10g.47350130C>ACA206463497RBP3c.1646C>A (p.Ala549Glu)
10g.47350130C=CA1907806178RBP3c.1646C= (p.Ala549=)
10g.47350130C>GCA206463503RBP3c.1646C>G (p.Ala549Gly)
10g.47350130C>TCA5487468RBP3c.1646C>T (p.Ala549Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350130_47350131delinsCGCA1907806179RBP3c.1646_1647delinsCG (p.Ala549=)
10g.47350131G>ACA5487467RBP3c.1647G>A (p.Ala549=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350131G>CCA206463506RBP3c.1647G>C (p.Ala549=)
10g.47350131G=CA1907806182RBP3c.1647G= (p.Ala549=)
10g.47350131G>TCA206463509RBP3c.1647G>T (p.Ala549=)
10g.47350132delCA665798859RBP3c.1648del (p.Glu550ArgfsTer16)
dbSNP
10g.47350132G>ACA376671139RBP3c.1648G>A (p.Glu550Lys)
10g.47350132G>CCA376671141RBP3c.1648G>C (p.Glu550Gln)
dbSNP
10g.47350132G=CA1907806185RBP3c.1648G= (p.Glu550=)
10g.47350132G>TCA376671142RBP3c.1648G>T (p.Glu550Ter)
10g.47350132_47350146delCA2787866971RBP3c.1648_1662del (p.Glu550_Phe554del)
10g.47350133A=CA1907806187RBP3c.1649A= (p.Glu550=)
10g.47350133A>CCA376671143RBP3c.1649A>C (p.Glu550Ala)
dbSNP gnomAD v4
10g.47350133A>GCA376671144RBP3c.1649A>G (p.Glu550Gly)
10g.47350133A>TCA376671146RBP3c.1649A>T (p.Glu550Val)
10g.47350134G>ACA5487466RBP3c.1650G>A (p.Glu550=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350134G>CCA206463513RBP3c.1650G>C (p.Glu550Asp)
10g.47350134G=CA1907806189RBP3c.1650G= (p.Glu550=)
10g.47350134G>TCA206463514RBP3c.1650G>T (p.Glu550Asp)
10g.47350135G>ACA376671149RBP3c.1651G>A (p.Glu551Lys)
10g.47350135G>CCA376671151RBP3c.1651G>C (p.Glu551Gln)
10g.47350135G>TCA376671153RBP3c.1651G>T (p.Glu551Ter)
10g.47350136A=CA1907806190RBP3c.1652A= (p.Glu551=)
10g.47350136A>CCA376671155RBP3c.1652A>C (p.Glu551Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350136A>GCA376671158RBP3c.1652A>G (p.Glu551Gly)
10g.47350136A>TCA376671156RBP3c.1652A>T (p.Glu551Val)
10g.47350137G>ACA469782108RBP3c.1653G>A (p.Glu551=)
10g.47350137G>CCA376671160RBP3c.1653G>C (p.Glu551Asp)
10g.47350137G>TCA376671161RBP3c.1653G>T (p.Glu551Asp)
10g.47350138T>ACA376671163RBP3c.1654T>A (p.Phe552Ile)
10g.47350138T>CCA376671164RBP3c.1654T>C (p.Phe552Leu)
10g.47350138T>GCA376671166RBP3c.1654T>G (p.Phe552Val)
10g.47350139T>ACA376671168RBP3c.1655T>A (p.Phe552Tyr)
10g.47350139T>CCA376671169RBP3c.1655T>C (p.Phe552Ser)
10g.47350139T>GCA376671171RBP3c.1655T>G (p.Phe552Cys)
10g.47350140C>ACA376671172RBP3c.1656C>A (p.Phe552Leu)
dbSNP gnomAD v2 gnomAD v4
10g.47350140C=CA1907806192RBP3c.1656C= (p.Phe552=)
10g.47350140C>GCA376671173RBP3c.1656C>G (p.Phe552Leu)
10g.47350140C>TCA469782122RBP3c.1656C>T (p.Phe552=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350141G>ACA5487465RBP3c.1657G>A (p.Ala553Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350141G>CCA376671176RBP3c.1657G>C (p.Ala553Pro)
10g.47350141G=CA1907806193RBP3c.1657G= (p.Ala553=)
10g.47350141G>TCA376671175RBP3c.1657G>T (p.Ala553Ser)
10g.47350142C>ACA376671178RBP3c.1658C>A (p.Ala553Asp)
gnomAD v4
10g.47350142C=CA1907806195RBP3c.1658C= (p.Ala553=)
10g.47350142C>GCA376671180RBP3c.1658C>G (p.Ala553Gly)
10g.47350142C>TCA376671179RBP3c.1658C>T (p.Ala553Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350146_47350149delCA2609024845RBP3c.1662_1665del (p.Phe554LeufsTer11)
gnomAD v4
10g.47350143C>ACA469782131RBP3c.1659C>A (p.Ala553=)
10g.47350143C>GCA469782132RBP3c.1659C>G (p.Ala553=)
10g.47350143C>TCA469782133RBP3c.1659C>T (p.Ala553=)
gnomAD v4
10g.47350144T>ACA376671183RBP3c.1660T>A (p.Phe554Ile)
10g.47350144T>CCA376671184RBP3c.1660T>C (p.Phe554Leu)
dbSNP gnomAD v2 gnomAD v4
10g.47350144T>GCA376671186RBP3c.1660T>G (p.Phe554Val)
10g.47350144T=CA1907806197RBP3c.1660T= (p.Phe554=)
10g.47350145T>ACA376671187RBP3c.1661T>A (p.Phe554Tyr)
gnomAD v4
10g.47350145T>CCA376671189RBP3c.1661T>C (p.Phe554Ser)
10g.47350145T>GCA376671190RBP3c.1661T>G (p.Phe554Cys)
10g.47350146C>ACA376671192RBP3c.1662C>A (p.Phe554Leu)
gnomAD v4
10g.47350146C=CA1907806200RBP3c.1662C= (p.Phe554=)
10g.47350146C>GCA376671194RBP3c.1662C>G (p.Phe554Leu)
10g.47350146C>TCA469782138RBP3c.1662C>T (p.Phe554=)
dbSNP gnomAD v3 gnomAD v4
10g.47350147C>ACA376671195RBP3c.1663C>A (p.Leu555Ile)
10g.47350147C>GCA376671197RBP3c.1663C>G (p.Leu555Val)
10g.47350147C>TCA376671198RBP3c.1663C>T (p.Leu555Phe)
gnomAD v4
10g.47350148T>ACA376671203RBP3c.1664T>A (p.Leu555His)
10g.47350148T>CCA376671202RBP3c.1664T>C (p.Leu555Pro)
gnomAD v4
10g.47350148T>GCA376671200RBP3c.1664T>G (p.Leu555Arg)
10g.47350149T>ACA469782148RBP3c.1665T>A (p.Leu555=)
10g.47350149T>CCA469782149RBP3c.1665T>C (p.Leu555=)
dbSNP gnomAD v2 gnomAD v4
10g.47350149T>GCA469782150RBP3c.1665T>G (p.Leu555=)
10g.47350149T=CA1907806201RBP3c.1665T= (p.Leu555=)
10g.47350150A=CA1907806202RBP3c.1666A= (p.Met556=)
10g.47350150A>CCA376671204RBP3c.1666A>C (p.Met556Leu)
10g.47350150A>GCA376671206RBP3c.1666A>G (p.Met556Val)
dbSNP gnomAD v2 gnomAD v4
10g.47350150A>TCA376671207RBP3c.1666A>T (p.Met556Leu)
10g.47350151T>ACA376671209RBP3c.1667T>A (p.Met556Lys)
10g.47350151T>CCA376671211RBP3c.1667T>C (p.Met556Thr)
dbSNP gnomAD v2 gnomAD v4
10g.47350151T>GCA376671212RBP3c.1667T>G (p.Met556Arg)
10g.47350151T=CA1907806203RBP3c.1667T= (p.Met556=)
10g.47350152G>ACA376671213RBP3c.1668G>A (p.Met556Ile)
gnomAD v4
10g.47350152G>CCA376671215RBP3c.1668G>C (p.Met556Ile)
10g.47350152G>TCA376671216RBP3c.1668G>T (p.Met556Ile)
gnomAD v4
10g.47350153C>ACA376671217RBP3c.1669C>A (p.Gln557Lys)
10g.47350153C>GCA376671219RBP3c.1669C>G (p.Gln557Glu)
10g.47350153C>TCA376671221RBP3c.1669C>T (p.Gln557Ter)
10g.47350154A=CA1907806205RBP3c.1670A= (p.Gln557=)
10g.47350154A>CCA376671225RBP3c.1670A>C (p.Gln557Pro)
10g.47350154A>GCA376671224RBP3c.1670A>G (p.Gln557Arg)
10g.47350154A>TCA376671223RBP3c.1670A>T (p.Gln557Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350155G>ACA469782162RBP3c.1671G>A (p.Gln557=)
dbSNP gnomAD v2 gnomAD v4
10g.47350155G>CCA376671227RBP3c.1671G>C (p.Gln557His)
10g.47350155G=CA1907806207RBP3c.1671G= (p.Gln557=)
10g.47350155G>TCA376671228RBP3c.1671G>T (p.Gln557His)
10g.47350156T>ACA376671230RBP3c.1672T>A (p.Ser558Thr)
10g.47350156T>CCA376671232RBP3c.1672T>C (p.Ser558Pro)
10g.47350156T>GCA376671233RBP3c.1672T>G (p.Ser558Ala)
10g.47350157C>ACA206463515RBP3c.1673C>A (p.Ser558Ter)
gnomAD v4
10g.47350157C=CA1907806209RBP3c.1673C= (p.Ser558=)
10g.47350157C>GCA206463516RBP3c.1673C>G (p.Ser558Trp)
10g.47350157C>TCA5487464RBP3c.1673C>T (p.Ser558Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350158G>ACA5487462RBP3c.1674G>A (p.Ser558=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350158G>CCA376671238RBP3c.1674G>C (p.Ser558=)
10g.47350158G=CA1907806212RBP3c.1674G= (p.Ser558=)
10g.47350158G>TCA5487463RBP3c.1674G>T (p.Ser558=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350159C>ACA376671240RBP3c.1675C>A (p.Leu559Met)
10g.47350159C>GCA376671242RBP3c.1675C>G (p.Leu559Val)
10g.47350159C>TCA469782175RBP3c.1675C>T (p.Leu559=)
dbSNP gnomAD v3 gnomAD v4
10g.47350160T>ACA376671247RBP3c.1676T>A (p.Leu559Gln)
dbSNP gnomAD v2 gnomAD v4
10g.47350160T>CCA376671243RBP3c.1676T>C (p.Leu559Pro)
10g.47350160T>GCA376671245RBP3c.1676T>G (p.Leu559Arg)
10g.47350160T=CA1907806215RBP3c.1676T= (p.Leu559=)
10g.47350161G>ACA469782178RBP3c.1677G>A (p.Leu559=)
10g.47350161G>CCA469782179RBP3c.1677G>C (p.Leu559=)
10g.47350161G=CA1907806217RBP3c.1677G= (p.Leu559=)
10g.47350161G>TCA206463520RBP3c.1677G>T (p.Leu559=)
ClinVar dbSNP gnomAD v4
10g.47350162G>ACA376671248RBP3c.1678G>A (p.Gly560Ser)
dbSNP gnomAD v3 gnomAD v4
10g.47350162G>CCA376671250RBP3c.1678G>C (p.Gly560Arg)
10g.47350162G=CA1907806219RBP3c.1678G= (p.Gly560=)
10g.47350162G>TCA376671251RBP3c.1678G>T (p.Gly560Cys)
10g.47350163G>ACA376671253RBP3c.1679G>A (p.Gly560Asp)
10g.47350163G>CCA376671255RBP3c.1679G>C (p.Gly560Ala)
dbSNP gnomAD v2 gnomAD v4
10g.47350163G=CA1907806220RBP3c.1679G= (p.Gly560=)
10g.47350163G>TCA376671256RBP3c.1679G>T (p.Gly560Val)
10g.47350164C>ACA469782205RBP3c.1680C>A (p.Gly560=)
10g.47350164C=CA1907806221RBP3c.1680C= (p.Gly560=)
10g.47350164C>GCA469782206RBP3c.1680C>G (p.Gly560=)
10g.47350164C>TCA469782207RBP3c.1680C>T (p.Gly560=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched