Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47350023C>ACA469781571RBP3c.1539C>A (p.Arg513=)
10g.47350023C>GCA469781569RBP3c.1539C>G (p.Arg513=)
10g.47350023C>TCA469781570RBP3c.1539C>T (p.Arg513=)
10g.47350024A>CCA376670213RBP3c.1540A>C (p.Thr514Pro)
10g.47350024A>GCA376670215RBP3c.1540A>G (p.Thr514Ala)
10g.47350024A>TCA376670216RBP3c.1540A>T (p.Thr514Ser)
10g.47350025C>ACA206462025RBP3c.1541C>A (p.Thr514Asn)
10g.47350025C=CA1907806053RBP3c.1541C= (p.Thr514=)
10g.47350025C>GCA206462027RBP3c.1541C>G (p.Thr514Ser)
gnomAD v4
10g.47350025C>TCA5487499RBP3c.1541C>T (p.Thr514Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350026C>ACA469781574RBP3c.1542C>A (p.Thr514=)
10g.47350026C>GCA469781573RBP3c.1542C>G (p.Thr514=)
10g.47350026C>TCA469781572RBP3c.1542C>T (p.Thr514=)
10g.47350028_47350030delCA2574540252RBP3c.1544_1546del (p.Asn515del)
10g.47350027A>CCA376670223RBP3c.1543A>C (p.Asn515His)
10g.47350027A>GCA376670224RBP3c.1543A>G (p.Asn515Asp)
10g.47350027A>TCA376670226RBP3c.1543A>T (p.Asn515Tyr)
10g.47350028A>CCA376670228RBP3c.1544A>C (p.Asn515Thr)
10g.47350028A>GCA376670229RBP3c.1544A>G (p.Asn515Ser)
10g.47350028A>TCA376670231RBP3c.1544A>T (p.Asn515Ile)
10g.47350029C>ACA376670234RBP3c.1545C>A (p.Asn515Lys)
10g.47350029C>GCA376670235RBP3c.1545C>G (p.Asn515Lys)
10g.47350029C>TCA469781575RBP3c.1545C>T (p.Asn515=)
10g.47350030A>CCA376670236RBP3c.1546A>C (p.Ile516Leu)
10g.47350030A>GCA376670238RBP3c.1546A>G (p.Ile516Val)
10g.47350030A>TCA376670240RBP3c.1546A>T (p.Ile516Phe)
10g.47350031T>ACA206462030RBP3c.1547T>A (p.Ile516Asn)
dbSNP
10g.47350031T>CCA376670243RBP3c.1547T>C (p.Ile516Thr)
10g.47350031T>GCA376670242RBP3c.1547T>G (p.Ile516Ser)
10g.47350031T=CA1907806055RBP3c.1547T= (p.Ile516=)
10g.47350032C>ACA469781576RBP3c.1548C>A (p.Ile516=)
10g.47350032C>GCA376670247RBP3c.1548C>G (p.Ile516Met)
10g.47350032C>TCA469781577RBP3c.1548C>T (p.Ile516=)
10g.47350033A=CA1907806057RBP3c.1549A= (p.Thr517=)
10g.47350033A>CCA206462034RBP3c.1549A>C (p.Thr517Pro)
dbSNP
10g.47350033A>GCA5487498RBP3c.1549A>G (p.Thr517Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350033A>TCA206462035RBP3c.1549A>T (p.Thr517Ser)
ClinVar dbSNP gnomAD v4
10g.47350034C>ACA206462037RBP3c.1550C>A (p.Thr517Lys)
10g.47350034C=CA1907806059RBP3c.1550C= (p.Thr517=)
10g.47350034C>GCA206462039RBP3c.1550C>G (p.Thr517Arg)
10g.47350034C>TCA5487497RBP3c.1550C>T (p.Thr517Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350035G>ACA5487496RBP3c.1551G>A (p.Thr517=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350035G>CCA206462042RBP3c.1551G>C (p.Thr517=)
10g.47350035G=CA1907806061RBP3c.1551G= (p.Thr517=)
10g.47350035G>TCA206462045RBP3c.1551G>T (p.Thr517=)
10g.47350036C>ACA376670257RBP3c.1552C>A (p.Gln518Lys)
10g.47350036C>GCA376670258RBP3c.1552C>G (p.Gln518Glu)
10g.47350036C>TCA376670259RBP3c.1552C>T (p.Gln518Ter)
dbSNP
10g.47350037A=CA1907806063RBP3c.1553A= (p.Gln518=)
10g.47350037A>CCA376670264RBP3c.1553A>C (p.Gln518Pro)
ClinVar dbSNP
10g.47350037A>GCA350968RBP3c.1553A>G (p.Gln518Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350037A>TCA376670263RBP3c.1553A>T (p.Gln518Leu)
10g.47350038G>ACA469781578RBP3c.1554G>A (p.Gln518=)
dbSNP gnomAD v2 gnomAD v4
10g.47350038G>CCA376670267RBP3c.1554G>C (p.Gln518His)
10g.47350038G=CA1907806064RBP3c.1554G= (p.Gln518=)
10g.47350038G>TCA376670269RBP3c.1554G>T (p.Gln518His)
10g.47350039G>ACA376670271RBP3c.1555G>A (p.Glu519Lys)
10g.47350039G>CCA376670273RBP3c.1555G>C (p.Glu519Gln)
10g.47350039G>TCA376670275RBP3c.1555G>T (p.Glu519Ter)
10g.47350040A>CCA376670794RBP3c.1556A>C (p.Glu519Ala)
10g.47350040A>GCA376670796RBP3c.1556A>G (p.Glu519Gly)
10g.47350040A>TCA376670798RBP3c.1556A>T (p.Glu519Val)
10g.47350041G>ACA469781900RBP3c.1557G>A (p.Glu519=)
10g.47350041G>CCA376670801RBP3c.1557G>C (p.Glu519Asp)
10g.47350041G>TCA376670803RBP3c.1557G>T (p.Glu519Asp)
10g.47350042C>ACA376670810RBP3c.1558C>A (p.His520Asn)
ClinVar
10g.47350042C>GCA376670812RBP3c.1558C>G (p.His520Asp)
10g.47350042C>TCA376670814RBP3c.1558C>T (p.His520Tyr)
10g.47350043A=CA1907806066RBP3c.1559A= (p.His520=)
10g.47350043A>CCA206463348RBP3c.1559A>C (p.His520Pro)
10g.47350043A>GCA5487495RBP3c.1559A>G (p.His520Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350043A>TCA206463353RBP3c.1559A>T (p.His520Leu)
ClinVar dbSNP gnomAD v4
10g.47350044C>ACA206463355RBP3c.1560C>A (p.His520Gln)
10g.47350044C=CA1907806068RBP3c.1560C= (p.His520=)
10g.47350044C>GCA206463357RBP3c.1560C>G (p.His520Gln)
10g.47350044C>TCA5487494RBP3c.1560C>T (p.His520=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350045T>ACA5487493RBP3c.1561T>A (p.Phe521Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350045T>CCA376670829RBP3c.1561T>C (p.Phe521Leu)
10g.47350045T>GCA376670832RBP3c.1561T>G (p.Phe521Val)
gnomAD v4
10g.47350045T=CA1907806070RBP3c.1561T= (p.Phe521=)
10g.47350046T>ACA5487492RBP3c.1562T>A (p.Phe521Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350046T>CCA376670836RBP3c.1562T>C (p.Phe521Ser)
10g.47350046T>GCA376670838RBP3c.1562T>G (p.Phe521Cys)
10g.47350046T=CA1907806072RBP3c.1562T= (p.Phe521=)
10g.47350047C>ACA376670840RBP3c.1563C>A (p.Phe521Leu)
10g.47350047C>GCA376670841RBP3c.1563C>G (p.Phe521Leu)
10g.47350047C>TCA469781909RBP3c.1563C>T (p.Phe521=)
10g.47350048A=CA1907806074RBP3c.1564A= (p.Ser522=)
10g.47350048A>CCA376670844RBP3c.1564A>C (p.Ser522Arg)
dbSNP
10g.47350048A>GCA376670845RBP3c.1564A>G (p.Ser522Gly)
dbSNP
10g.47350048A>TCA376670846RBP3c.1564A>T (p.Ser522Cys)
10g.47350049G>ACA5487491RBP3c.1565G>A (p.Ser522Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350049G>CCA206463364RBP3c.1565G>C (p.Ser522Thr)
10g.47350049G=CA1907806076RBP3c.1565G= (p.Ser522=)
10g.47350049G>TCA206463365RBP3c.1565G>T (p.Ser522Ile)
10g.47350050C>ACA376670850RBP3c.1566C>A (p.Ser522Arg)
10g.47350050C>GCA376670852RBP3c.1566C>G (p.Ser522Arg)
10g.47350050C>TCA469781913RBP3c.1566C>T (p.Ser522=)
10g.47350051C>ACA376670854RBP3c.1567C>A (p.His523Asn)
10g.47350051C>GCA376670856RBP3c.1567C>G (p.His523Asp)
10g.47350051C>TCA376670858RBP3c.1567C>T (p.His523Tyr)
10g.47350052A>CCA376670860RBP3c.1568A>C (p.His523Pro)
10g.47350052A>GCA376670863RBP3c.1568A>G (p.His523Arg)
10g.47350052A>TCA376670865RBP3c.1568A>T (p.His523Leu)
gnomAD v4
10g.47350053C>ACA376670867RBP3c.1569C>A (p.His523Gln)
10g.47350053C=CA1907806078RBP3c.1569C= (p.His523=)
10g.47350053C>GCA350996RBP3c.1569C>G (p.His523Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350053C>TCA469781918RBP3c.1569C>T (p.His523=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350054A>CCA376670870RBP3c.1570A>C (p.Met524Leu)
10g.47350054A>GCA376670872RBP3c.1570A>G (p.Met524Val)
ClinVar dbSNP gnomAD v4
10g.47350054A>TCA376670874RBP3c.1570A>T (p.Met524Leu)
10g.47350055T>ACA376670881RBP3c.1571T>A (p.Met524Lys)
ClinVar
10g.47350055T>CCA376670876RBP3c.1571T>C (p.Met524Thr)
dbSNP
10g.47350055T>GCA376670879RBP3c.1571T>G (p.Met524Arg)
dbSNP
10g.47350055T=CA1907806080RBP3c.1571T= (p.Met524=)
10g.47350056G>ACA376670883RBP3c.1572G>A (p.Met524Ile)
10g.47350056G>CCA376670885RBP3c.1572G>C (p.Met524Ile)
10g.47350056G>TCA376670887RBP3c.1572G>T (p.Met524Ile)
10g.47350057G>ACA376670889RBP3c.1573G>A (p.Glu525Lys)
10g.47350057G>CCA376670890RBP3c.1573G>C (p.Glu525Gln)
ClinVar
10g.47350057G>TCA376670892RBP3c.1573G>T (p.Glu525Ter)
10g.47350058A>CCA376670895RBP3c.1574A>C (p.Glu525Ala)
10g.47350058A>GCA376670896RBP3c.1574A>G (p.Glu525Gly)
10g.47350058A>TCA376670897RBP3c.1574A>T (p.Glu525Val)
10g.47350059G>ACA469781925RBP3c.1575G>A (p.Glu525=)
10g.47350059G>CCA376670901RBP3c.1575G>C (p.Glu525Asp)
10g.47350059G>TCA376670902RBP3c.1575G>T (p.Glu525Asp)
10g.47350060C>ACA376670904RBP3c.1576C>A (p.Leu526Ile)
10g.47350060C=CA1907806082RBP3c.1576C= (p.Leu526=)
10g.47350060C>GCA376670908RBP3c.1576C>G (p.Leu526Val)
10g.47350060C>TCA376670906RBP3c.1576C>T (p.Leu526Phe)
dbSNP gnomAD v2 gnomAD v4
10g.47350061T>ACA376670910RBP3c.1577T>A (p.Leu526His)
10g.47350061T>CCA376670913RBP3c.1577T>C (p.Leu526Pro)
ClinVar gnomAD v4
10g.47350061T>GCA376670912RBP3c.1577T>G (p.Leu526Arg)
10g.47350061T=CA1907806084RBP3c.1577T= (p.Leu526=)
10g.47350061dupCA206463369RBP3c.1577dup (p.Arg530ThrfsTer?)
10g.47350061_47350062insACA469781928RBP3c.1577_1578insA (p.Arg530ThrfsTer?)
dbSNP
10g.47350062C>ACA469781929RBP3c.1578C>A (p.Leu526=)
10g.47350062C>GCA469781930RBP3c.1578C>G (p.Leu526=)
10g.47350062C>TCA469781931RBP3c.1578C>T (p.Leu526=)
10g.47350063C>ACA376670915RBP3c.1579C>A (p.Pro527Thr)
10g.47350063C>GCA376670919RBP3c.1579C>G (p.Pro527Ala)
10g.47350063C>TCA376670917RBP3c.1579C>T (p.Pro527Ser)
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

Number of alleles fetched