Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350202T>ACA376671379RBP3c.1718T>A (p.Leu573Gln)
10g.47350202T>CCA376671380RBP3c.1718T>C (p.Leu573Pro)
ClinVar gnomAD v4
10g.47350202T>GCA376671381RBP3c.1718T>G (p.Leu573Arg)
10g.47350203G>ACA469782455RBP3c.1719G>A (p.Leu573=)
10g.47350203G>CCA469782453RBP3c.1719G>C (p.Leu573=)
10g.47350203G>TCA469782448RBP3c.1719G>T (p.Leu573=)
10g.47350204C>ACA376671382RBP3c.1720C>A (p.Leu574Met)
gnomAD v4
10g.47350204C>GCA376671383RBP3c.1720C>G (p.Leu574Val)
10g.47350204C>TCA469782457RBP3c.1720C>T (p.Leu574=)
10g.47350205T>ACA376671384RBP3c.1721T>A (p.Leu574Gln)
10g.47350205T>CCA376671386RBP3c.1721T>C (p.Leu574Pro)
10g.47350205T>GCA376671385RBP3c.1721T>G (p.Leu574Arg)
10g.47350206G>ACA469782464RBP3c.1722G>A (p.Leu574=)
dbSNP gnomAD v4
10g.47350206G>CCA469782465RBP3c.1722G>C (p.Leu574=)
10g.47350206G=CA1907806253RBP3c.1722G= (p.Leu574=)
10g.47350206G>TCA469782466RBP3c.1722G>T (p.Leu574=)
10g.47350207C>ACA206463553RBP3c.1723C>A (p.His575Asn)
gnomAD v4
10g.47350207C=CA1907806255RBP3c.1723C= (p.His575=)
10g.47350207C>GCA206463557RBP3c.1723C>G (p.His575Asp)
10g.47350207C>TCA5487456RBP3c.1723C>T (p.His575Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350208A>CCA376671387RBP3c.1724A>C (p.His575Pro)
10g.47350208A>GCA376671388RBP3c.1724A>G (p.His575Arg)
10g.47350208A>TCA376671389RBP3c.1724A>T (p.His575Leu)
gnomAD v4
10g.47350209C>ACA376671390RBP3c.1725C>A (p.His575Gln)
gnomAD v4
10g.47350209C>GCA376671391RBP3c.1725C>G (p.His575Gln)
10g.47350209C>TCA469782469RBP3c.1725C>T (p.His575=)
10g.47350210A>CCA376671392RBP3c.1726A>C (p.Thr576Pro)
10g.47350210A>GCA376671393RBP3c.1726A>G (p.Thr576Ala)
10g.47350210A>TCA376671394RBP3c.1726A>T (p.Thr576Ser)
dbSNP
10g.47350211C>ACA376671397RBP3c.1727C>A (p.Thr576Asn)
gnomAD v4
10g.47350211C>GCA376671396RBP3c.1727C>G (p.Thr576Ser)
10g.47350211C>TCA376671395RBP3c.1727C>T (p.Thr576Ile)
10g.47350212C>ACA469782473RBP3c.1728C>A (p.Thr576=)
gnomAD v4
10g.47350212C>GCA469782475RBP3c.1728C>G (p.Thr576=)
10g.47350212C>TCA469782479RBP3c.1728C>T (p.Thr576=)
10g.47350213C>ACA206463558RBP3c.1729C>A (p.Arg577Ser)
gnomAD v4
10g.47350213C=CA1907806257RBP3c.1729C= (p.Arg577=)
10g.47350213C>GCA5487454RBP3c.1729C>G (p.Arg577Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350213C>TCA5487455RBP3c.1729C>T (p.Arg577Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350214G>ACA5487453RBP3c.1730G>A (p.Arg577His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350214G>CCA206463560RBP3c.1730G>C (p.Arg577Pro)
dbSNP
10g.47350214G=CA1907806260RBP3c.1730G= (p.Arg577=)
10g.47350214G>TCA206463564RBP3c.1730G>T (p.Arg577Leu)
gnomAD v4
10g.47350215C>ACA469782485RBP3c.1731C>A (p.Arg577=)
gnomAD v4
10g.47350215C>GCA469782486RBP3c.1731C>G (p.Arg577=)
10g.47350215C>TCA469782488RBP3c.1731C>T (p.Arg577=)
10g.47350216A=CA1907806262RBP3c.1732A= (p.Thr578=)
10g.47350216A>CCA376671398RBP3c.1732A>C (p.Thr578Pro)
dbSNP
10g.47350216A>GCA376671399RBP3c.1732A>G (p.Thr578Ala)
dbSNP gnomAD v3 gnomAD v4
10g.47350216A>TCA376671400RBP3c.1732A>T (p.Thr578Ser)
dbSNP gnomAD v4
10g.47350217C>ACA5487451RBP3c.1733C>A (p.Thr578Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350217C=CA1907806264RBP3c.1733C= (p.Thr578=)
10g.47350217C>GCA376671401RBP3c.1733C>G (p.Thr578Arg)
gnomAD v4
10g.47350217C>TCA5487452RBP3c.1733C>T (p.Thr578Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350218G>ACA469782489RBP3c.1734G>A (p.Thr578=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350218G>CCA469782490RBP3c.1734G>C (p.Thr578=)
10g.47350218G=CA1907806267RBP3c.1734G= (p.Thr578=)
10g.47350218G>TCA469782491RBP3c.1734G>T (p.Thr578=)
dbSNP
10g.47350219G>ACA376671403RBP3c.1735G>A (p.Val579Met)
dbSNP gnomAD v2 gnomAD v4
10g.47350219G>CCA376671404RBP3c.1735G>C (p.Val579Leu)
gnomAD v4
10g.47350219G=CA1907806269RBP3c.1735G= (p.Val579=)
10g.47350219G>TCA376671402RBP3c.1735G>T (p.Val579Leu)
10g.47350220T>ACA376671405RBP3c.1736T>A (p.Val579Glu)
10g.47350220T>CCA376671406RBP3c.1736T>C (p.Val579Ala)
10g.47350220T>GCA376671407RBP3c.1736T>G (p.Val579Gly)
10g.47350221G>ACA469782494RBP3c.1737G>A (p.Val579=)
dbSNP gnomAD v2 gnomAD v4
10g.47350221G>CCA469782493RBP3c.1737G>C (p.Val579=)
10g.47350221G=CA1907806270RBP3c.1737G= (p.Val579=)
10g.47350221G>TCA469782492RBP3c.1737G>T (p.Val579=)
10g.47350222C>ACA5487450RBP3c.1738C>A (p.Pro580Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350222C=CA1907806272RBP3c.1738C= (p.Pro580=)
10g.47350222C>GCA206463569RBP3c.1738C>G (p.Pro580Ala)
10g.47350222C>TCA206463579RBP3c.1738C>T (p.Pro580Ser)
gnomAD v4
10g.47350223C>ACA376671408RBP3c.1739C>A (p.Pro580Gln)
gnomAD v4
10g.47350223C=CA1907806274RBP3c.1739C= (p.Pro580=)
10g.47350223C>GCA376671410RBP3c.1739C>G (p.Pro580Arg)
dbSNP gnomAD v2 gnomAD v4
10g.47350223C>TCA376671409RBP3c.1739C>T (p.Pro580Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350224G>ACA5487449RBP3c.1740G>A (p.Pro580=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350224G>CCA206463583RBP3c.1740G>C (p.Pro580=)
10g.47350224G=CA1907806276RBP3c.1740G= (p.Pro580=)
10g.47350224G>TCA206463587RBP3c.1740G>T (p.Pro580=)
gnomAD v4
10g.47350224_47350231delCA2787866980RBP3c.1740_1747del (p.Leu581HisfsTer?)
10g.47350225C>ACA376671411RBP3c.1741C>A (p.Leu581Met)
10g.47350225C>GCA376671412RBP3c.1741C>G (p.Leu581Val)
10g.47350225C>TCA469782501RBP3c.1741C>T (p.Leu581=)
gnomAD v4
10g.47350226T>ACA10635770RBP3c.1742T>A (p.Leu581Gln)
ClinVar dbSNP gnomAD v4
10g.47350226T>CCA376671414RBP3c.1742T>C (p.Leu581Pro)
dbSNP
10g.47350226T>GCA376671413RBP3c.1742T>G (p.Leu581Arg)
10g.47350226T=CA1907806278RBP3c.1742T= (p.Leu581=)
10g.47350227G>ACA469782502RBP3c.1743G>A (p.Leu581=)
dbSNP gnomAD v2 gnomAD v4
10g.47350227G>CCA469782504RBP3c.1743G>C (p.Leu581=)
10g.47350227G=CA1907806280RBP3c.1743G= (p.Leu581=)
10g.47350227G>TCA469782506RBP3c.1743G>T (p.Leu581=)
10g.47350228C>ACA376671415RBP3c.1744C>A (p.Leu582Met)
dbSNP gnomAD v2 gnomAD v4
10g.47350228C=CA1907806282RBP3c.1744C= (p.Leu582=)
10g.47350228C>GCA376671416RBP3c.1744C>G (p.Leu582Val)
10g.47350228C>TCA469782509RBP3c.1744C>T (p.Leu582=)
10g.47350229T>ACA376671417RBP3c.1745T>A (p.Leu582Gln)
10g.47350229T>CCA376671418RBP3c.1745T>C (p.Leu582Pro)
10g.47350229T>GCA376671419RBP3c.1745T>G (p.Leu582Arg)
10g.47350230G>ACA5487448RBP3c.1746G>A (p.Leu582=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350230G>CCA206463592RBP3c.1746G>C (p.Leu582=)
10g.47350230G=CA1907806284RBP3c.1746G= (p.Leu582=)
10g.47350230G>TCA206463589RBP3c.1746G>T (p.Leu582=)
dbSNP gnomAD v3 gnomAD v4
10g.47350231G>ACA376671422RBP3c.1747G>A (p.Asp583Asn)
dbSNP
10g.47350231G>CCA376671420RBP3c.1747G>C (p.Asp583His)
10g.47350231G=CA1907806285RBP3c.1747G= (p.Asp583=)
10g.47350231G>TCA376671421RBP3c.1747G>T (p.Asp583Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350232A>CCA376671423RBP3c.1748A>C (p.Asp583Ala)
10g.47350232A>GCA376671424RBP3c.1748A>G (p.Asp583Gly)
10g.47350232A>TCA376671425RBP3c.1748A>T (p.Asp583Val)
10g.47350233C>ACA376671426RBP3c.1749C>A (p.Asp583Glu)
gnomAD v4
10g.47350233C=CA1907806287RBP3c.1749C= (p.Asp583=)
10g.47350233C>GCA376671427RBP3c.1749C>G (p.Asp583Glu)
10g.47350233C>TCA469782518RBP3c.1749C>T (p.Asp583=)
dbSNP gnomAD v2 gnomAD v4
10g.47350234A=CA1907806289RBP3c.1750A= (p.Thr584=)
10g.47350234A>CCA376671428RBP3c.1750A>C (p.Thr584Pro)
dbSNP gnomAD v3 gnomAD v4
10g.47350234A>GCA376671430RBP3c.1750A>G (p.Thr584Ala)
10g.47350234A>TCA376671429RBP3c.1750A>T (p.Thr584Ser)
10g.47350235C>ACA376671431RBP3c.1751C>A (p.Thr584Lys)
10g.47350235C=CA1907806291RBP3c.1751C= (p.Thr584=)
10g.47350235C>GCA376671432RBP3c.1751C>G (p.Thr584Arg)
10g.47350235C>TCA376671433RBP3c.1751C>T (p.Thr584Ile)
dbSNP gnomAD v4
10g.47350236A=CA1907806293RBP3c.1752A= (p.Thr584=)
10g.47350236A>CCA469782523RBP3c.1752A>C (p.Thr584=)
10g.47350236A>GCA469782524RBP3c.1752A>G (p.Thr584=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350236A>TCA469782527RBP3c.1752A>T (p.Thr584=)
10g.47350237C>ACA5487447RBP3c.1753C>A (p.Pro585Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350237C=CA1907806295RBP3c.1753C= (p.Pro585=)
10g.47350237C>GCA376671434RBP3c.1753C>G (p.Pro585Ala)
10g.47350237C>TCA376671435RBP3c.1753C>T (p.Pro585Ser)
ClinVar dbSNP gnomAD v4
10g.47350238C>ACA5487446RBP3c.1754C>A (p.Pro585His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350238C=CA1907806297RBP3c.1754C= (p.Pro585=)
10g.47350238C>GCA376671436RBP3c.1754C>G (p.Pro585Arg)
10g.47350238C>TCA376671437RBP3c.1754C>T (p.Pro585Leu)
gnomAD v4
10g.47350239C>ACA5487444RBP3c.1755C>A (p.Pro585=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350239C=CA1907806299RBP3c.1755C= (p.Pro585=)
10g.47350239C>GCA5487443RBP3c.1755C>G (p.Pro585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350239C>TCA5487445RBP3c.1755C>T (p.Pro585=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350240G>ACA5487442RBP3c.1756G>A (p.Glu586Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350240G>CCA206463596RBP3c.1756G>C (p.Glu586Gln)
10g.47350240G=CA1907806301RBP3c.1756G= (p.Glu586=)
10g.47350240G>TCA206463597RBP3c.1756G>T (p.Glu586Ter)
dbSNP
10g.47350241A>CCA376671438RBP3c.1757A>C (p.Glu586Ala)
10g.47350241A>GCA376671439RBP3c.1757A>G (p.Glu586Gly)
10g.47350241A>TCA376671440RBP3c.1757A>T (p.Glu586Val)
10g.47350242A=CA1907806304RBP3c.1758A= (p.Glu586=)
10g.47350242A>CCA5487441RBP3c.1758A>C (p.Glu586Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350242A>GCA206463598RBP3c.1758A>G (p.Glu586=)
10g.47350242A>TCA206463600RBP3c.1758A>T (p.Glu586Asp)
10g.47350243G>ACA376671443RBP3c.1759G>A (p.Gly587Ser)
gnomAD v4
10g.47350243G>CCA376671442RBP3c.1759G>C (p.Gly587Arg)
10g.47350243G>TCA376671441RBP3c.1759G>T (p.Gly587Cys)
10g.47350244G>ACA5487440RBP3c.1760G>A (p.Gly587Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350244G>CCA206463613RBP3c.1760G>C (p.Gly587Ala)
10g.47350244G=CA1907806306RBP3c.1760G= (p.Gly587=)
10g.47350244G>TCA206463618RBP3c.1760G>T (p.Gly587Val)
10g.47350244_47350245insTGTGTCCA2787866989RBP3c.1760_1761insTGTGTC (p.Gly587_Ser588insValSer)
10g.47350245C>ACA469782546RBP3c.1761C>A (p.Gly587=)
10g.47350245C=CA1907806307RBP3c.1761C= (p.Gly587=)
10g.47350245C>GCA469782548RBP3c.1761C>G (p.Gly587=)
10g.47350245C>TCA469782549RBP3c.1761C>T (p.Gly587=)
dbSNP gnomAD v2
10g.47350246A>CCA376671444RBP3c.1762A>C (p.Ser588Arg)
10g.47350246A>GCA376671445RBP3c.1762A>G (p.Ser588Gly)
10g.47350246A>TCA376671446RBP3c.1762A>T (p.Ser588Cys)
10g.47350247G>ACA376671447RBP3c.1763G>A (p.Ser588Asn)
gnomAD v4
10g.47350247G>CCA376671449RBP3c.1763G>C (p.Ser588Thr)
10g.47350247G>TCA376671448RBP3c.1763G>T (p.Ser588Ile)
10g.47350249_47350255delCA2609024846RBP3c.1765_1771del (p.Leu589SerfsTer?)
gnomAD v4
10g.47350248C>ACA5487439RBP3c.1764C>A (p.Ser588Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350248C=CA1907806310RBP3c.1764C= (p.Ser588=)
10g.47350248C>GCA376671450RBP3c.1764C>G (p.Ser588Arg)
10g.47350248C>TCA376671451RBP3c.1764C>T (p.Ser588=)
10g.47350249C>ACA376671452RBP3c.1765C>A (p.Leu589Ile)
10g.47350249C>GCA376671453RBP3c.1765C>G (p.Leu589Val)
10g.47350249C>TCA376671454RBP3c.1765C>T (p.Leu589Phe)
gnomAD v4
10g.47350250_47350251delCA2787866991RBP3c.1766_1767del (p.Leu589ArgfsTer?)
10g.47350250T>ACA376671455RBP3c.1766T>A (p.Leu589His)
gnomAD v4
10g.47350250T>CCA376671456RBP3c.1766T>C (p.Leu589Pro)
dbSNP gnomAD v2 gnomAD v4
10g.47350250T>GCA376671457RBP3c.1766T>G (p.Leu589Arg)
dbSNP
10g.47350250T=CA1907806312RBP3c.1766T= (p.Leu589=)
10g.47350251C>ACA206463635RBP3c.1767C>A (p.Leu589=)
gnomAD v4
10g.47350251C=CA1907806314RBP3c.1767C= (p.Leu589=)
10g.47350251C>GCA206463645RBP3c.1767C>G (p.Leu589=)
dbSNP gnomAD v3 gnomAD v4
10g.47350251C>TCA5487438RBP3c.1767C>T (p.Leu589=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350252G>ACA376671458RBP3c.1768G>A (p.Ala590Thr)
dbSNP gnomAD v3 gnomAD v4
10g.47350252G>CCA376671460RBP3c.1768G>C (p.Ala590Pro)
gnomAD v4
10g.47350252G=CA1907806316RBP3c.1768G= (p.Ala590=)
10g.47350252G>TCA376671459RBP3c.1768G>T (p.Ala590Ser)
10g.47350253C>ACA206463648RBP3c.1769C>A (p.Ala590Glu)
10g.47350253C=CA1907806318RBP3c.1769C= (p.Ala590=)
10g.47350253C>GCA206463650RBP3c.1769C>G (p.Ala590Gly)
10g.47350253C>TCA5487437RBP3c.1769C>T (p.Ala590Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350254G>ACA5487436RBP3c.1770G>A (p.Ala590=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350254G>CCA376671461RBP3c.1770G>C (p.Ala590=)
10g.47350254G=CA1907806320RBP3c.1770G= (p.Ala590=)
10g.47350254G>TCA376671462RBP3c.1770G>T (p.Ala590=)
10g.47350255delCA2787866992RBP3c.1771del (p.Leu591SerfsTer?)
10g.47350255C>ACA376671463RBP3c.1771C>A (p.Leu591Ile)
10g.47350255C>GCA376671464RBP3c.1771C>G (p.Leu591Val)
10g.47350255C>TCA376671465RBP3c.1771C>T (p.Leu591Phe)
10g.47350255_47350256insCAACCAAACACACCCACA2787866993RBP3c.1771_1772insCAACCAAACACACCCA (p.Leu591ProfsTer?)
10g.47350256T>ACA376671466RBP3c.1772T>A (p.Leu591His)
10g.47350256T>CCA376671467RBP3c.1772T>C (p.Leu591Pro)
10g.47350256T>GCA376671468RBP3c.1772T>G (p.Leu591Arg)
10g.47350257C>ACA469782565RBP3c.1773C>A (p.Leu591=)
10g.47350257C>GCA469782566RBP3c.1773C>G (p.Leu591=)
10g.47350257C>TCA469782567RBP3c.1773C>T (p.Leu591=)
10g.47350258A>CCA376671469RBP3c.1774A>C (p.Thr592Pro)
10g.47350258A>GCA376671470RBP3c.1774A>G (p.Thr592Ala)
10g.47350258A>TCA376671471RBP3c.1774A>T (p.Thr592Ser)
10g.47350259C>ACA376671474RBP3c.1775C>A (p.Thr592Asn)
gnomAD v4
10g.47350259C>GCA376671473RBP3c.1775C>G (p.Thr592Ser)
10g.47350259C>TCA376671472RBP3c.1775C>T (p.Thr592Ile)
10g.47350260C>ACA206463655RBP3c.1776C>A (p.Thr592=)
10g.47350260C=CA1907806323RBP3c.1776C= (p.Thr592=)
10g.47350260C>GCA5487434RBP3c.1776C>G (p.Thr592=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350260C>TCA5487435RBP3c.1776C>T (p.Thr592=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350261G>ACA5487433RBP3c.1777G>A (p.Val593Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350261G>CCA206463669RBP3c.1777G>C (p.Val593Leu)
dbSNP gnomAD v3 gnomAD v4
10g.47350261G=CA1907806327RBP3c.1777G= (p.Val593=)
10g.47350261G>TCA206463665RBP3c.1777G>T (p.Val593Leu)
ClinVar dbSNP gnomAD v4
10g.47350262T>ACA206463677RBP3c.1778T>A (p.Val593Glu)
dbSNP
10g.47350262T>CCA351026RBP3c.1778T>C (p.Val593Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350262T>GCA206463681RBP3c.1778T>G (p.Val593Gly)
10g.47350262T=CA1907806329RBP3c.1778T= (p.Val593=)
10g.47350263G>ACA469782577RBP3c.1779G>A (p.Val593=)
dbSNP gnomAD v2 gnomAD v4
10g.47350263G>CCA469782578RBP3c.1779G>C (p.Val593=)
dbSNP gnomAD v3 gnomAD v4
10g.47350263G=CA1907806332RBP3c.1779G= (p.Val593=)
10g.47350263G>TCA469782579RBP3c.1779G>T (p.Val593=)
dbSNP gnomAD v4
10g.47350264C>ACA376671475RBP3c.1780C>A (p.Pro594Thr)
gnomAD v4
10g.47350264C=CA1907806333RBP3c.1780C= (p.Pro594=)
10g.47350264C>GCA5487432RBP3c.1780C>G (p.Pro594Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350264C>TCA376671476RBP3c.1780C>T (p.Pro594Ser)
10g.47350265C>ACA376671477RBP3c.1781C>A (p.Pro594Gln)
10g.47350265C=CA1907806335RBP3c.1781C= (p.Pro594=)
10g.47350265C>GCA5487430RBP3c.1781C>G (p.Pro594Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350265C>TCA5487431RBP3c.1781C>T (p.Pro594Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350266G>ACA5487429RBP3c.1782G>A (p.Pro594=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350266G>CCA376671478RBP3c.1782G>C (p.Pro594=)
dbSNP gnomAD v3 gnomAD v4
10g.47350266G=CA1907806338RBP3c.1782G= (p.Pro594=)
10g.47350266G>TCA376671479RBP3c.1782G>T (p.Pro594=)
gnomAD v4
10g.47350267G>ACA376671480RBP3c.1783G>A (p.Val595Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350267G>CCA376671481RBP3c.1783G>C (p.Val595Leu)
10g.47350267G=CA1907806341RBP3c.1783G= (p.Val595=)
10g.47350267G>TCA376671482RBP3c.1783G>T (p.Val595Phe)
10g.47350268T>ACA376671485RBP3c.1784T>A (p.Val595Asp)
10g.47350268T>CCA376671484RBP3c.1784T>C (p.Val595Ala)
10g.47350268T>GCA376671483RBP3c.1784T>G (p.Val595Gly)
10g.47350269C>ACA469782589RBP3c.1785C>A (p.Val595=)
gnomAD v4
10g.47350269C>GCA469782590RBP3c.1785C>G (p.Val595=)
10g.47350269C>TCA469782591RBP3c.1785C>T (p.Val595=)
10g.47350270C>ACA376671486RBP3c.1786C>A (p.Leu596Ile)
gnomAD v4
10g.47350270C>GCA376671487RBP3c.1786C>G (p.Leu596Val)
10g.47350270C>TCA376671488RBP3c.1786C>T (p.Leu596Phe)
gnomAD v4
10g.47350271T>ACA376671489RBP3c.1787T>A (p.Leu596His)
10g.47350271T>CCA376671490RBP3c.1787T>C (p.Leu596Pro)
10g.47350271T>GCA376671491RBP3c.1787T>G (p.Leu596Arg)
10g.47350272C>ACA469782594RBP3c.1788C>A (p.Leu596=)
10g.47350272C>GCA469782595RBP3c.1788C>G (p.Leu596=)
10g.47350272C>TCA469782596RBP3c.1788C>T (p.Leu596=)
ClinVar dbSNP
10g.47350273A>CCA376671492RBP3c.1789A>C (p.Thr597Pro)
10g.47350273A>GCA376671494RBP3c.1789A>G (p.Thr597Ala)
10g.47350273A>TCA376671493RBP3c.1789A>T (p.Thr597Ser)
10g.47350274C>ACA5487427RBP3c.1790C>A (p.Thr597Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350274C=CA1907806343RBP3c.1790C= (p.Thr597=)
10g.47350274C>GCA206463682RBP3c.1790C>G (p.Thr597Ser)
10g.47350274C>TCA5487428RBP3c.1790C>T (p.Thr597Ile)
dbSNP ExAC gnomAD v2
10g.47350275C>ACA469782597RBP3c.1791C>A (p.Thr597=)
gnomAD v4
10g.47350275C>GCA469782598RBP3c.1791C>G (p.Thr597=)
gnomAD v4
10g.47350275C>TCA469782600RBP3c.1791C>T (p.Thr597=)
10g.47350276T>ACA376671495RBP3c.1792T>A (p.Phe598Ile)
10g.47350276T>CCA376671496RBP3c.1792T>C (p.Phe598Leu)
10g.47350276T>GCA376671497RBP3c.1792T>G (p.Phe598Val)
10g.47350277T>ACA206463689RBP3c.1793T>A (p.Phe598Tyr)
10g.47350277T>CCA5487426RBP3c.1793T>C (p.Phe598Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350277T>GCA206463692RBP3c.1793T>G (p.Phe598Cys)
10g.47350277T=CA1907806345RBP3c.1793T= (p.Phe598=)
10g.47350278delCA2574540253RBP3c.1794del (p.Phe598LeufsTer?)
10g.47350278C>ACA376671498RBP3c.1794C>A (p.Phe598Leu)
gnomAD v4
10g.47350278C>GCA376671499RBP3c.1794C>G (p.Phe598Leu)
10g.47350278C>TCA469782604RBP3c.1794C>T (p.Phe598=)
10g.47350279A=CA1907806347RBP3c.1795A= (p.Ile599=)
10g.47350279A>CCA376671501RBP3c.1795A>C (p.Ile599Leu)
10g.47350279A>GCA350922RBP3c.1795A>G (p.Ile599Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350279A>TCA376671500RBP3c.1795A>T (p.Ile599Phe)
10g.47350280T>ACA206463696RBP3c.1796T>A (p.Ile599Asn)
10g.47350280T>CCA5487425RBP3c.1796T>C (p.Ile599Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350280T>GCA206463697RBP3c.1796T>G (p.Ile599Ser)
10g.47350280T=CA1907806349RBP3c.1796T= (p.Ile599=)
10g.47350281C>ACA206463698RBP3c.1797C>A (p.Ile599=)
10g.47350281C=CA1907806350RBP3c.1797C= (p.Ile599=)
10g.47350281C>GCA206463699RBP3c.1797C>G (p.Ile599Met)
dbSNP gnomAD v3 gnomAD v4
10g.47350281C>TCA5487424RBP3c.1797C>T (p.Ile599=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350282G>ACA376671502RBP3c.1798G>A (p.Asp600Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350282G>CCA376671504RBP3c.1798G>C (p.Asp600His)
gnomAD v4
10g.47350282G=CA1907806352RBP3c.1798G= (p.Asp600=)
10g.47350282G>TCA376671503RBP3c.1798G>T (p.Asp600Tyr)
10g.47350283A>CCA376671505RBP3c.1799A>C (p.Asp600Ala)
10g.47350283A>GCA376671507RBP3c.1799A>G (p.Asp600Gly)
gnomAD v4
10g.47350283A>TCA376671506RBP3c.1799A>T (p.Asp600Val)
10g.47350284C>ACA376671508RBP3c.1800C>A (p.Asp600Glu)
gnomAD v4
10g.47350284C>GCA376671509RBP3c.1800C>G (p.Asp600Glu)
10g.47350284C>TCA469782607RBP3c.1800C>T (p.Asp600=)
gnomAD v4
10g.47350285A>CCA376671510RBP3c.1801A>C (p.Asn601His)
10g.47350285A>GCA376671511RBP3c.1801A>G (p.Asn601Asp)
10g.47350285A>TCA376671512RBP3c.1801A>T (p.Asn601Tyr)
10g.47350286A>CCA376671513RBP3c.1802A>C (p.Asn601Thr)
10g.47350286A>GCA376671514RBP3c.1802A>G (p.Asn601Ser)
10g.47350286A>TCA376671515RBP3c.1802A>T (p.Asn601Ile)
10g.47350287T>ACA376671516RBP3c.1803T>A (p.Asn601Lys)
dbSNP gnomAD v3 gnomAD v4
10g.47350287T>CCA469782612RBP3c.1803T>C (p.Asn601=)
ClinVar dbSNP gnomAD v4
10g.47350287T>GCA376671517RBP3c.1803T>G (p.Asn601Lys)
10g.47350287T=CA1907806354RBP3c.1803T= (p.Asn601=)
10g.47350288C>ACA206463702RBP3c.1804C>A (p.His602Asn)
dbSNP gnomAD v4
10g.47350288C=CA1907806356RBP3c.1804C= (p.His602=)
10g.47350288C>GCA376671519RBP3c.1804C>G (p.His602Asp)
gnomAD v4
10g.47350288C>TCA376671518RBP3c.1804C>T (p.His602Tyr)
10g.47350289A>CCA376671520RBP3c.1805A>C (p.His602Pro)
10g.47350289A>GCA376671521RBP3c.1805A>G (p.His602Arg)
gnomAD v4
10g.47350289A>TCA376671522RBP3c.1805A>T (p.His602Leu)
gnomAD v4
10g.47350290C>ACA376671523RBP3c.1806C>A (p.His602Gln)
gnomAD v4
10g.47350290C=CA1907806358RBP3c.1806C= (p.His602=)
10g.47350290C>GCA376671524RBP3c.1806C>G (p.His602Gln)
dbSNP gnomAD v3 gnomAD v4
10g.47350290C>TCA5487423RBP3c.1806C>T (p.His602=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350290_47350291insACACA2787866997RBP3c.1806_1807insACA (p.His602_Gly603insThr)
10g.47350290_47350291insACTCA2787866998RBP3c.1806_1807insACT (p.His602_Gly603insThr)
10g.47350291G>ACA5487422RBP3c.1807G>A (p.Gly603Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350291G>CCA376671525RBP3c.1807G>C (p.Gly603Arg)
gnomAD v4
10g.47350291G=CA1907806360RBP3c.1807G= (p.Gly603=)
10g.47350291G>TCA376671526RBP3c.1807G>T (p.Gly603Cys)
dbSNP
10g.47350292G>ACA206463705RBP3c.1808G>A (p.Gly603Asp)
dbSNP
10g.47350292G>CCA376671527RBP3c.1808G>C (p.Gly603Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.47350292G=CA1907806362RBP3c.1808G= (p.Gly603=)
10g.47350292G>TCA376671528RBP3c.1808G>T (p.Gly603Val)
10g.47350293C>ACA376671530RBP3c.1809C>A (p.Gly603=)
10g.47350293C=CA1907806364RBP3c.1809C= (p.Gly603=)
10g.47350293C>GCA376671529RBP3c.1809C>G (p.Gly603=)
gnomAD v4
10g.47350293C>TCA5487421RBP3c.1809C>T (p.Gly603=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350294G>ACA5487420RBP3c.1810G>A (p.Glu604Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350294G>CCA206463707RBP3c.1810G>C (p.Glu604Gln)
10g.47350294G=CA1907806366RBP3c.1810G= (p.Glu604=)
10g.47350294G>TCA206463706RBP3c.1810G>T (p.Glu604Ter)
10g.47350295A>CCA376671531RBP3c.1811A>C (p.Glu604Ala)
10g.47350295A>GCA376671532RBP3c.1811A>G (p.Glu604Gly)
dbSNP
10g.47350295A>TCA376671533RBP3c.1811A>T (p.Glu604Val)
10g.47350296G>ACA469781942RBP3c.1812G>A (p.Glu604=)
10g.47350296G>CCA376671535RBP3c.1812G>C (p.Glu604Asp)
10g.47350296G>TCA376671534RBP3c.1812G>T (p.Glu604Asp)
10g.47350297G>ACA376671536RBP3c.1813G>A (p.Ala605Thr)
gnomAD v4
10g.47350297G>CCA10635780RBP3c.1813G>C (p.Ala605Pro)
ClinVar dbSNP
10g.47350297G=CA1907806369RBP3c.1813G= (p.Ala605=)
10g.47350297G>TCA376671537RBP3c.1813G>T (p.Ala605Ser)
10g.47350298C>ACA376671538RBP3c.1814C>A (p.Ala605Asp)
gnomAD v4
10g.47350298C=CA1907806370RBP3c.1814C= (p.Ala605=)
10g.47350298C>GCA376671539RBP3c.1814C>G (p.Ala605Gly)
10g.47350298C>TCA376671540RBP3c.1814C>T (p.Ala605Val)
dbSNP
10g.47350299C>ACA469781957RBP3c.1815C>A (p.Ala605=)
gnomAD v4
10g.47350299C>GCA469781954RBP3c.1815C>G (p.Ala605=)
10g.47350299C>TCA469781953RBP3c.1815C>T (p.Ala605=)
10g.47350300T>ACA376671541RBP3c.1816T>A (p.Trp606Arg)
10g.47350300T>CCA206463711RBP3c.1816T>C (p.Trp606Arg)
dbSNP
10g.47350300T>GCA376671542RBP3c.1816T>G (p.Trp606Gly)
10g.47350300T=CA1907806371RBP3c.1816T= (p.Trp606=)
10g.47350301G>ACA376671543RBP3c.1817G>A (p.Trp606Ter)
10g.47350301G>CCA376671544RBP3c.1817G>C (p.Trp606Ser)
10g.47350301G>TCA376671545RBP3c.1817G>T (p.Trp606Leu)
10g.47350302G>ACA376671546RBP3c.1818G>A (p.Trp606Ter)
dbSNP gnomAD v2 gnomAD v4
10g.47350302G>CCA376671547RBP3c.1818G>C (p.Trp606Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350302G=CA1907806374RBP3c.1818G= (p.Trp606=)
10g.47350302G>TCA5487419RBP3c.1818G>T (p.Trp606Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched