Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47349962T>ACA206461932RBP3c.1478T>A (p.Leu493Gln)
10g.47349962T>CCA5487513RBP3c.1478T>C (p.Leu493Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349962T>GCA206461936RBP3c.1478T>G (p.Leu493Arg)
10g.47349962T=CA1907805981RBP3c.1478T= (p.Leu493=)
10g.47349963G>ACA469781529RBP3c.1479G>A (p.Leu493=)
ClinVar dbSNP
10g.47349963G>CCA469781530RBP3c.1479G>C (p.Leu493=)
10g.47349963G>TCA469781531RBP3c.1479G>T (p.Leu493=)
10g.47349964T>ACA376669972RBP3c.1480T>A (p.Ser494Thr)
10g.47349964T>CCA376669969RBP3c.1480T>C (p.Ser494Pro)
gnomAD v4
10g.47349964T>GCA376669970RBP3c.1480T>G (p.Ser494Ala)
10g.47349965C>ACA376669973RBP3c.1481C>A (p.Ser494Tyr)
10g.47349965C>GCA376669975RBP3c.1481C>G (p.Ser494Cys)
10g.47349965C>TCA376669977RBP3c.1481C>T (p.Ser494Phe)
gnomAD v4
10g.47349966delCA2609024689RBP3c.1482del (p.Tyr495ThrfsTer?)
gnomAD v4
10g.47349966C>ACA469781532RBP3c.1482C>A (p.Ser494=)
10g.47349966C>GCA469781533RBP3c.1482C>G (p.Ser494=)
10g.47349966C>TCA469781534RBP3c.1482C>T (p.Ser494=)
ClinVar dbSNP
10g.47349967T>ACA376669979RBP3c.1483T>A (p.Tyr495Asn)
10g.47349967T>CCA376669981RBP3c.1483T>C (p.Tyr495His)
gnomAD v4
10g.47349967T>GCA376669982RBP3c.1483T>G (p.Tyr495Asp)
10g.47349968A>CCA376669984RBP3c.1484A>C (p.Tyr495Ser)
10g.47349968A>GCA376669986RBP3c.1484A>G (p.Tyr495Cys)
10g.47349968A>TCA376669987RBP3c.1484A>T (p.Tyr495Phe)
10g.47349969C>ACA376669990RBP3c.1485C>A (p.Tyr495Ter)
10g.47349969C=CA1907805983RBP3c.1485C= (p.Tyr495=)
10g.47349969C>GCA376669991RBP3c.1485C>G (p.Tyr495Ter)
10g.47349969C>TCA469781535RBP3c.1485C>T (p.Tyr495=)
10g.47349970T>ACA376669995RBP3c.1486T>A (p.Phe496Ile)
10g.47349970T>CCA376669997RBP3c.1486T>C (p.Phe496Leu)
dbSNP gnomAD v2 gnomAD v4
10g.47349970T>GCA376669993RBP3c.1486T>G (p.Phe496Val)
10g.47349970T=CA1907805985RBP3c.1486T= (p.Phe496=)
10g.47349971dupCA593487656RBP3c.1487dup (p.Gln497ProfsTer4)
dbSNP gnomAD v2 gnomAD v4
10g.47349971T>ACA376669999RBP3c.1487T>A (p.Phe496Tyr)
ClinVar
10g.47349971T>CCA376670001RBP3c.1487T>C (p.Phe496Ser)
10g.47349971T>GCA376670003RBP3c.1487T>G (p.Phe496Cys)
10g.47349972C>ACA206461939RBP3c.1488C>A (p.Phe496Leu)
10g.47349972C=CA1907805987RBP3c.1488C= (p.Phe496=)
10g.47349972C>GCA206461949RBP3c.1488C>G (p.Phe496Leu)
10g.47349972C>TCA5487512RBP3c.1488C>T (p.Phe496=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349973C>ACA376670008RBP3c.1489C>A (p.Gln497Lys)
10g.47349973C>GCA376670010RBP3c.1489C>G (p.Gln497Glu)
10g.47349973C>TCA376670012RBP3c.1489C>T (p.Gln497Ter)
10g.47349974A=CA1907805989RBP3c.1490A= (p.Gln497=)
10g.47349974A>CCA376670014RBP3c.1490A>C (p.Gln497Pro)
10g.47349974A>GCA5487511RBP3c.1490A>G (p.Gln497Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349974A>TCA376670015RBP3c.1490A>T (p.Gln497Leu)
10g.47349975G>ACA469781536RBP3c.1491G>A (p.Gln497=)
dbSNP
10g.47349975G>CCA376670017RBP3c.1491G>C (p.Gln497His)
10g.47349975G=CA1907805991RBP3c.1491G= (p.Gln497=)
10g.47349975G>TCA376670019RBP3c.1491G>T (p.Gln497His)
10g.47349976G>ACA376670025RBP3c.1492G>A (p.Gly498Ser)
dbSNP gnomAD v2 gnomAD v4
10g.47349976G>CCA376670023RBP3c.1492G>C (p.Gly498Arg)
dbSNP
10g.47349976G=CA1907805993RBP3c.1492G= (p.Gly498=)
10g.47349976G>TCA376670021RBP3c.1492G>T (p.Gly498Cys)
dbSNP gnomAD v4
10g.47349977G>ACA376670027RBP3c.1493G>A (p.Gly498Asp)
dbSNP gnomAD v4
10g.47349977G>CCA376670029RBP3c.1493G>C (p.Gly498Ala)
10g.47349977G=CA1907805995RBP3c.1493G= (p.Gly498=)
10g.47349977G>TCA376670031RBP3c.1493G>T (p.Gly498Val)
10g.47349978C>ACA469781537RBP3c.1494C>A (p.Gly498=)
10g.47349978C>GCA469781538RBP3c.1494C>G (p.Gly498=)
10g.47349978C>TCA469781539RBP3c.1494C>T (p.Gly498=)
gnomAD v4
10g.47349979C>ACA376670034RBP3c.1495C>A (p.Pro499Thr)
10g.47349979C=CA1907805997RBP3c.1495C= (p.Pro499=)
10g.47349979C>GCA376670035RBP3c.1495C>G (p.Pro499Ala)
dbSNP
10g.47349979C>TCA376670037RBP3c.1495C>T (p.Pro499Ser)
gnomAD v4
10g.47349980C>ACA376670040RBP3c.1496C>A (p.Pro499His)
10g.47349980C>GCA376670041RBP3c.1496C>G (p.Pro499Arg)
10g.47349980C>TCA376670043RBP3c.1496C>T (p.Pro499Leu)
10g.47349981T>ACA469781540RBP3c.1497T>A (p.Pro499=)
10g.47349981T>CCA469781541RBP3c.1497T>C (p.Pro499=)
dbSNP
10g.47349981T>GCA469781542RBP3c.1497T>G (p.Pro499=)
10g.47349982G>ACA376670045RBP3c.1498G>A (p.Glu500Lys)
10g.47349982G>CCA376670047RBP3c.1498G>C (p.Glu500Gln)
10g.47349982G>TCA376670049RBP3c.1498G>T (p.Glu500Ter)
10g.47349983A=CA1907805998RBP3c.1499A= (p.Glu500=)
10g.47349983A>CCA376670055RBP3c.1499A>C (p.Glu500Ala)
10g.47349983A>GCA376670053RBP3c.1499A>G (p.Glu500Gly)
dbSNP gnomAD v2 gnomAD v4
10g.47349983A>TCA376670051RBP3c.1499A>T (p.Glu500Val)
10g.47349984G>ACA469781543RBP3c.1500G>A (p.Glu500=)
10g.47349984G>CCA376670057RBP3c.1500G>C (p.Glu500Asp)
10g.47349984G>TCA376670059RBP3c.1500G>T (p.Glu500Asp)
10g.47349985G>ACA376670061RBP3c.1501G>A (p.Ala501Thr)
10g.47349985G>CCA376670063RBP3c.1501G>C (p.Ala501Pro)
10g.47349985G>TCA376670065RBP3c.1501G>T (p.Ala501Ser)
10g.47349986C>ACA206461952RBP3c.1502C>A (p.Ala501Asp)
ClinVar gnomAD v4
10g.47349986C=CA1907806000RBP3c.1502C= (p.Ala501=)
10g.47349986C>GCA206461951RBP3c.1502C>G (p.Ala501Gly)
10g.47349986C>TCA5487510RBP3c.1502C>T (p.Ala501Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349987C>ACA376670070RBP3c.1503C>A (p.Ala501=)
10g.47349987C=CA1907806002RBP3c.1503C= (p.Ala501=)
10g.47349987C>GCA376670072RBP3c.1503C>G (p.Ala501=)
10g.47349987C>TCA5487509RBP3c.1503C>T (p.Ala501=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349988G>ACA5487508RBP3c.1504G>A (p.Gly502Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349988G>CCA206461953RBP3c.1504G>C (p.Gly502Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47349988G=CA1907806005RBP3c.1504G= (p.Gly502=)
10g.47349988G>TCA206461954RBP3c.1504G>T (p.Gly502Cys)
dbSNP
10g.47349989delCA2609024695RBP3c.1505del (p.Gly502AlafsTer?)
gnomAD v4
10g.47349989G>ACA5487507RBP3c.1505G>A (p.Gly502Asp)
dbSNP ExAC gnomAD v3 gnomAD v4
10g.47349989G>CCA206461957RBP3c.1505G>C (p.Gly502Ala)
gnomAD v4
10g.47349989G=CA1907806008RBP3c.1505G= (p.Gly502=)
10g.47349989G>TCA206461962RBP3c.1505G>T (p.Gly502Val)
10g.47349990C>ACA469781546RBP3c.1506C>A (p.Gly502=)
gnomAD v4
10g.47349990C>GCA469781545RBP3c.1506C>G (p.Gly502=)
gnomAD v4
10g.47349990C>TCA469781544RBP3c.1506C>T (p.Gly502=)
gnomAD v4
10g.47349991C>ACA376670083RBP3c.1507C>A (p.Pro503Thr)
10g.47349991C>GCA376670084RBP3c.1507C>G (p.Pro503Ala)
10g.47349991C>TCA376670086RBP3c.1507C>T (p.Pro503Ser)
10g.47349992C>ACA376670089RBP3c.1508C>A (p.Pro503His)
10g.47349992C>GCA376670090RBP3c.1508C>G (p.Pro503Arg)
10g.47349992C>TCA376670092RBP3c.1508C>T (p.Pro503Leu)
gnomAD v4
10g.47349993C>ACA469781549RBP3c.1509C>A (p.Pro503=)
10g.47349993C=CA1907806010RBP3c.1509C= (p.Pro503=)
10g.47349993C>GCA469781547RBP3c.1509C>G (p.Pro503=)
10g.47349993C>TCA469781548RBP3c.1509C>T (p.Pro503=)
dbSNP gnomAD v2 gnomAD v4
10g.47349994G>ACA5487506RBP3c.1510G>A (p.Val504Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349994G>CCA206461964RBP3c.1510G>C (p.Val504Leu)
gnomAD v4
10g.47349994G=CA1907806012RBP3c.1510G= (p.Val504=)
10g.47349994G>TCA206461965RBP3c.1510G>T (p.Val504Leu)
gnomAD v4
10g.47349995T>ACA376670097RBP3c.1511T>A (p.Val504Glu)
dbSNP gnomAD v2
10g.47349995T>CCA376670099RBP3c.1511T>C (p.Val504Ala)
10g.47349995T>GCA376670101RBP3c.1511T>G (p.Val504Gly)
10g.47349995T=CA1907806013RBP3c.1511T= (p.Val504=)
10g.47349996G>ACA469781550RBP3c.1512G>A (p.Val504=)
gnomAD v4
10g.47349996G>CCA469781551RBP3c.1512G>C (p.Val504=)
10g.47349996G>TCA469781552RBP3c.1512G>T (p.Val504=)
10g.47349997C>ACA206461966RBP3c.1513C>A (p.His505Asn)
dbSNP
10g.47349997C=CA1907806015RBP3c.1513C= (p.His505=)
10g.47349997C>GCA206461967RBP3c.1513C>G (p.His505Asp)
10g.47349997C>TCA376670103RBP3c.1513C>T (p.His505Tyr)
dbSNP gnomAD v4
10g.47349998A=CA1907806018RBP3c.1514A= (p.His505=)
10g.47349998A>CCA376670108RBP3c.1514A>C (p.His505Pro)
dbSNP
10g.47349998A>GCA376670109RBP3c.1514A>G (p.His505Arg)
10g.47349998A>TCA238754RBP3c.1514A>T (p.His505Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349999C>ACA376670112RBP3c.1515C>A (p.His505Gln)
10g.47349999C=CA1907806021RBP3c.1515C= (p.His505=)
10g.47349999C>GCA376670114RBP3c.1515C>G (p.His505Gln)
10g.47349999C>TCA469781553RBP3c.1515C>T (p.His505=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47350000C>ACA5487505RBP3c.1516C>A (p.Leu506Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350000C=CA1907806023RBP3c.1516C= (p.Leu506=)
10g.47350000C>GCA206461981RBP3c.1516C>G (p.Leu506Val)
10g.47350000C>TCA5487504RBP3c.1516C>T (p.Leu506Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350001T>ACA376670119RBP3c.1517T>A (p.Leu506His)
10g.47350001T>CCA376670121RBP3c.1517T>C (p.Leu506Pro)
10g.47350001T>GCA376670123RBP3c.1517T>G (p.Leu506Arg)
10g.47350002C>ACA469781554RBP3c.1518C>A (p.Leu506=)
10g.47350002C>GCA469781556RBP3c.1518C>G (p.Leu506=)
10g.47350002C>TCA469781555RBP3c.1518C>T (p.Leu506=)
gnomAD v4
10g.47350003T>ACA376670125RBP3c.1519T>A (p.Phe507Ile)
10g.47350003T>CCA376670127RBP3c.1519T>C (p.Phe507Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.47350003T>GCA376670128RBP3c.1519T>G (p.Phe507Val)
10g.47350003T=CA1907806025RBP3c.1519T= (p.Phe507=)
10g.47350004T>ACA376670130RBP3c.1520T>A (p.Phe507Tyr)
10g.47350004T>CCA376670133RBP3c.1520T>C (p.Phe507Ser)
10g.47350004T>GCA376670132RBP3c.1520T>G (p.Phe507Cys)
10g.47350005C>ACA376670136RBP3c.1521C>A (p.Phe507Leu)
10g.47350005C=CA1907806028RBP3c.1521C= (p.Phe507=)
10g.47350005C>GCA376670138RBP3c.1521C>G (p.Phe507Leu)
10g.47350005C>TCA469781558RBP3c.1521C>T (p.Phe507=)
dbSNP gnomAD v3 gnomAD v4
10g.47350009_47350011delCA469781557RBP3c.1525_1527del (p.Thr509del)
10g.47350006A>CCA376670141RBP3c.1522A>C (p.Thr508Pro)
10g.47350006A>GCA376670143RBP3c.1522A>G (p.Thr508Ala)
gnomAD v4
10g.47350006A>TCA376670144RBP3c.1522A>T (p.Thr508Ser)
10g.47350007C>ACA376670146RBP3c.1523C>A (p.Thr508Asn)
10g.47350007C>GCA376670147RBP3c.1523C>G (p.Thr508Ser)
10g.47350007C>TCA376670148RBP3c.1523C>T (p.Thr508Ile)
10g.47350008C>ACA469781559RBP3c.1524C>A (p.Thr508=)
10g.47350008C>GCA469781560RBP3c.1524C>G (p.Thr508=)
10g.47350008C>TCA469781561RBP3c.1524C>T (p.Thr508=)
10g.47350009A=CA1907806030RBP3c.1525A= (p.Thr509=)
10g.47350009A>CCA376670152RBP3c.1525A>C (p.Thr509Pro)
10g.47350009A>GCA376670153RBP3c.1525A>G (p.Thr509Ala)
ClinVar dbSNP gnomAD v4
10g.47350009A>TCA376670156RBP3c.1525A>T (p.Thr509Ser)
10g.47350010C>ACA376670161RBP3c.1526C>A (p.Thr509Asn)
gnomAD v4
10g.47350010C>GCA376670159RBP3c.1526C>G (p.Thr509Ser)
10g.47350010C>TCA376670158RBP3c.1526C>T (p.Thr509Ile)
10g.47350011C>ACA469781562RBP3c.1527C>A (p.Thr509=)
10g.47350011C=CA1907806032RBP3c.1527C= (p.Thr509=)
10g.47350011C>GCA5487503RBP3c.1527C>G (p.Thr509=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350011C>TCA469781563RBP3c.1527C>T (p.Thr509=)
ClinVar dbSNP gnomAD v4
10g.47350012T>ACA376670169RBP3c.1528T>A (p.Tyr510Asn)
10g.47350012T>CCA376670165RBP3c.1528T>C (p.Tyr510His)
10g.47350012T>GCA376670167RBP3c.1528T>G (p.Tyr510Asp)
10g.47350013A=CA1907806034RBP3c.1529A= (p.Tyr510=)
10g.47350013A>CCA206461995RBP3c.1529A>C (p.Tyr510Ser)
10g.47350013A>GCA376670172RBP3c.1529A>G (p.Tyr510Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350013A>TCA5487502RBP3c.1529A>T (p.Tyr510Phe)
dbSNP ExAC gnomAD v2
10g.47350014T>ACA376670175RBP3c.1530T>A (p.Tyr510Ter)
10g.47350014T>CCA469781564RBP3c.1530T>C (p.Tyr510=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350014T>GCA376670177RBP3c.1530T>G (p.Tyr510Ter)
gnomAD v4
10g.47350014T=CA1907806036RBP3c.1530T= (p.Tyr510=)
10g.47350015G>ACA376670183RBP3c.1531G>A (p.Asp511Asn)
dbSNP
10g.47350015G>CCA376670179RBP3c.1531G>C (p.Asp511His)
10g.47350015G=CA1907806038RBP3c.1531G= (p.Asp511=)
10g.47350015G>TCA376670181RBP3c.1531G>T (p.Asp511Tyr)
10g.47350016A=CA1907806040RBP3c.1532A= (p.Asp511=)
10g.47350016A>CCA376670184RBP3c.1532A>C (p.Asp511Ala)
gnomAD v4
10g.47350016A>GCA376670185RBP3c.1532A>G (p.Asp511Gly)
10g.47350016A>TCA376670186RBP3c.1532A>T (p.Asp511Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350017T>ACA376670189RBP3c.1533T>A (p.Asp511Glu)
10g.47350017T>CCA469781565RBP3c.1533T>C (p.Asp511=)
10g.47350017T>GCA376670191RBP3c.1533T>G (p.Asp511Glu)
10g.47350018C>ACA376670193RBP3c.1534C>A (p.Arg512Ser)
10g.47350018C=CA1907806043RBP3c.1534C= (p.Arg512=)
10g.47350018C>GCA5487501RBP3c.1534C>G (p.Arg512Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47350018C>TCA376670195RBP3c.1534C>T (p.Arg512Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350019G>ACA376670199RBP3c.1535G>A (p.Arg512His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47350019G>CCA376670200RBP3c.1535G>C (p.Arg512Pro)
10g.47350019G=CA1907806046RBP3c.1535G= (p.Arg512=)
10g.47350019G>TCA376670201RBP3c.1535G>T (p.Arg512Leu)
10g.47350020C>ACA469781566RBP3c.1536C>A (p.Arg512=)
dbSNP gnomAD v2 gnomAD v4
10g.47350020C=CA1907806047RBP3c.1536C= (p.Arg512=)
10g.47350020C>GCA469781567RBP3c.1536C>G (p.Arg512=)
10g.47350020C>TCA469781568RBP3c.1536C>T (p.Arg512=)
10g.47350021C>ACA5487500RBP3c.1537C>A (p.Arg513Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47350021C=CA1907806049RBP3c.1537C= (p.Arg513=)
10g.47350021C>GCA206462004RBP3c.1537C>G (p.Arg513Gly)
gnomAD v4
10g.47350021C>TCA206462021RBP3c.1537C>T (p.Arg513Cys)
dbSNP gnomAD v2 gnomAD v4
10g.47350022G>ACA376670208RBP3c.1538G>A (p.Arg513His)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.47350022G>CCA376670210RBP3c.1538G>C (p.Arg513Pro)
10g.47350022G=CA1907806051RBP3c.1538G= (p.Arg513=)
10g.47350022G>TCA376670211RBP3c.1538G>T (p.Arg513Leu)
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=)

Number of alleles fetched