Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.47349925_47349927dupCA928028669RBP3c.1441_1443dup (p.Asn481_Pro482insAsn)
dbSNP
10g.47349924C>ACA376669806RBP3c.1440C>A (p.His480Gln)
10g.47349924C>GCA376669808RBP3c.1440C>G (p.His480Gln)
10g.47349924C>TCA469781499RBP3c.1440C>T (p.His480=)
ClinVar
10g.47349925A>CCA376669813RBP3c.1441A>C (p.Asn481His)
10g.47349925A>GCA376669812RBP3c.1441A>G (p.Asn481Asp)
10g.47349925A>TCA376669811RBP3c.1441A>T (p.Asn481Tyr)
10g.47349926A=CA1907805937RBP3c.1442A= (p.Asn481=)
10g.47349926A>CCA5487521RBP3c.1442A>C (p.Asn481Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.47349926A>GCA376669816RBP3c.1442A>G (p.Asn481Ser)
10g.47349926A>TCA376669818RBP3c.1442A>T (p.Asn481Ile)
10g.47349926_47349927delinsACCA1907805938RBP3c.1442_1443delinsAC (p.Asn481=)
10g.47349927C>ACA376669820RBP3c.1443C>A (p.Asn481Lys)
10g.47349927C=CA1907805942RBP3c.1443C= (p.Asn481=)
10g.47349927C>GCA376669822RBP3c.1443C>G (p.Asn481Lys)
10g.47349927C>TCA469781500RBP3c.1443C>T (p.Asn481=)
dbSNP gnomAD v2 gnomAD v4
10g.47349929delCA5487520RBP3c.1445del (p.Pro482LeufsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349928C>ACA376669828RBP3c.1444C>A (p.Pro482Thr)
10g.47349928C=CA1907805944RBP3c.1444C= (p.Pro482=)
10g.47349928C>GCA376669825RBP3c.1444C>G (p.Pro482Ala)
ClinVar dbSNP gnomAD v4
10g.47349928C>TCA376669823RBP3c.1444C>T (p.Pro482Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47349929C>ACA376669831RBP3c.1445C>A (p.Pro482His)
10g.47349929C>GCA376669832RBP3c.1445C>G (p.Pro482Arg)
gnomAD v4
10g.47349929C>TCA376669834RBP3c.1445C>T (p.Pro482Leu)
10g.47349930T>ACA469781501RBP3c.1446T>A (p.Pro482=)
10g.47349930T>CCA469781502RBP3c.1446T>C (p.Pro482=)
10g.47349930T>GCA469781503RBP3c.1446T>G (p.Pro482=)
10g.47349931G>ACA376669837RBP3c.1447G>A (p.Gly483Arg)
dbSNP
10g.47349931G>CCA376669838RBP3c.1447G>C (p.Gly483Arg)
10g.47349931G>TCA376669840RBP3c.1447G>T (p.Gly483Ter)
10g.47349933_47349935delCA2609024686RBP3c.1449_1451del (p.Gly484del)
gnomAD v4
10g.47349932G>ACA376669847RBP3c.1448G>A (p.Gly483Glu)
dbSNP gnomAD v2
10g.47349932G>CCA376669843RBP3c.1448G>C (p.Gly483Ala)
10g.47349932G=CA1907805946RBP3c.1448G= (p.Gly483=)
10g.47349932G>TCA376669844RBP3c.1448G>T (p.Gly483Val)
dbSNP
10g.47349933A>CCA469781506RBP3c.1449A>C (p.Gly483=)
10g.47349933A>GCA469781504RBP3c.1449A>G (p.Gly483=)
10g.47349933A>TCA469781505RBP3c.1449A>T (p.Gly483=)
10g.47349933_47349934delinsAGCA1907805948RBP3c.1449_1450delinsAG (p.Gly483=)
10g.47349934G>ACA376669849RBP3c.1450G>A (p.Gly484Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47349934G>CCA5487519RBP3c.1450G>C (p.Gly484Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349934G=CA1907805951RBP3c.1450G= (p.Gly484=)
10g.47349934G>TCA376669853RBP3c.1450G>T (p.Gly484Trp)
10g.47349936delCA1907805950RBP3c.1452del (p.Pro485HisfsTer?)
dbSNP
10g.47349935G>ACA376669854RBP3c.1451G>A (p.Gly484Glu)
gnomAD v4
10g.47349935G>CCA376669856RBP3c.1451G>C (p.Gly484Ala)
10g.47349935G>TCA376669858RBP3c.1451G>T (p.Gly484Val)
10g.47349936G>ACA469781508RBP3c.1452G>A (p.Gly484=)
dbSNP gnomAD v2 gnomAD v4
10g.47349936G>CCA5487518RBP3c.1452G>C (p.Gly484=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349936G=CA1907805953RBP3c.1452G= (p.Gly484=)
10g.47349936G>TCA469781507RBP3c.1452G>T (p.Gly484=)
10g.47349937C>ACA376669861RBP3c.1453C>A (p.Pro485Thr)
gnomAD v4
10g.47349937C>GCA376669863RBP3c.1453C>G (p.Pro485Ala)
10g.47349937C>TCA376669864RBP3c.1453C>T (p.Pro485Ser)
gnomAD v4
10g.47349938C>ACA376669865RBP3c.1454C>A (p.Pro485Gln)
10g.47349938C=CA1907805955RBP3c.1454C= (p.Pro485=)
10g.47349938C>GCA376669866RBP3c.1454C>G (p.Pro485Arg)
10g.47349938C>TCA376669867RBP3c.1454C>T (p.Pro485Leu)
dbSNP
10g.47349939A>CCA469781509RBP3c.1455A>C (p.Pro485=)
10g.47349939A>GCA469781510RBP3c.1455A>G (p.Pro485=)
dbSNP
10g.47349939A>TCA469781511RBP3c.1455A>T (p.Pro485=)
gnomAD v4
10g.47349940T>ACA376669870RBP3c.1456T>A (p.Ser486Thr)
gnomAD v4
10g.47349940T>CCA376669873RBP3c.1456T>C (p.Ser486Pro)
gnomAD v4
10g.47349940T>GCA376669872RBP3c.1456T>G (p.Ser486Ala)
10g.47349941C>ACA376669876RBP3c.1457C>A (p.Ser486Tyr)
10g.47349941C>GCA376669877RBP3c.1457C>G (p.Ser486Cys)
10g.47349941C>TCA376669878RBP3c.1457C>T (p.Ser486Phe)
10g.47349942C>ACA469781512RBP3c.1458C>A (p.Ser486=)
10g.47349942C>GCA469781513RBP3c.1458C>G (p.Ser486=)
10g.47349942C>TCA469781514RBP3c.1458C>T (p.Ser486=)
gnomAD v4
10g.47349943T>ACA376669881RBP3c.1459T>A (p.Ser487Thr)
10g.47349943T>CCA376669883RBP3c.1459T>C (p.Ser487Pro)
10g.47349943T>GCA376669884RBP3c.1459T>G (p.Ser487Ala)
dbSNP
10g.47349943T=CA1907805957RBP3c.1459T= (p.Ser487=)
10g.47349944C>ACA376669888RBP3c.1460C>A (p.Ser487Tyr)
10g.47349944C=CA1907805959RBP3c.1460C= (p.Ser487=)
10g.47349944C>GCA376669890RBP3c.1460C>G (p.Ser487Cys)
10g.47349944C>TCA376669892RBP3c.1460C>T (p.Ser487Phe)
dbSNP gnomAD v3 gnomAD v4
10g.47349945T>ACA469781515RBP3c.1461T>A (p.Ser487=)
10g.47349945T>CCA469781516RBP3c.1461T>C (p.Ser487=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47349945T>GCA469781517RBP3c.1461T>G (p.Ser487=)
10g.47349945T=CA1907805961RBP3c.1461T= (p.Ser487=)
10g.47349946G>ACA376669895RBP3c.1462G>A (p.Ala488Thr)
10g.47349946G>CCA376669897RBP3c.1462G>C (p.Ala488Pro)
10g.47349946G>TCA376669898RBP3c.1462G>T (p.Ala488Ser)
10g.47349947C>ACA376669904RBP3c.1463C>A (p.Ala488Asp)
10g.47349947C>GCA376669903RBP3c.1463C>G (p.Ala488Gly)
10g.47349947C>TCA376669901RBP3c.1463C>T (p.Ala488Val)
10g.47349948T>ACA469781518RBP3c.1464T>A (p.Ala488=)
10g.47349948T>CCA469781519RBP3c.1464T>C (p.Ala488=)
ClinVar dbSNP
10g.47349948T>GCA469781520RBP3c.1464T>G (p.Ala488=)
10g.47349948T=CA1907805963RBP3c.1464T= (p.Ala488=)
10g.47349949G>ACA376669907RBP3c.1465G>A (p.Val489Met)
gnomAD v4
10g.47349949G>CCA376669908RBP3c.1465G>C (p.Val489Leu)
10g.47349949G>TCA376669910RBP3c.1465G>T (p.Val489Leu)
10g.47349950T>ACA376669912RBP3c.1466T>A (p.Val489Glu)
10g.47349950T>CCA376669914RBP3c.1466T>C (p.Val489Ala)
10g.47349950T>GCA376669915RBP3c.1466T>G (p.Val489Gly)
10g.47349951G>ACA5487516RBP3c.1467G>A (p.Val489=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349951G>CCA206461887RBP3c.1467G>C (p.Val489=)
10g.47349951G=CA1907805966RBP3c.1467G= (p.Val489=)
10g.47349951G>TCA5487517RBP3c.1467G>T (p.Val489=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349952C>ACA376669921RBP3c.1468C>A (p.Pro490Thr)
dbSNP gnomAD v3 gnomAD v4
10g.47349952C=CA1907805969RBP3c.1468C= (p.Pro490=)
10g.47349952C>GCA376669923RBP3c.1468C>G (p.Pro490Ala)
dbSNP
10g.47349952C>TCA376669925RBP3c.1468C>T (p.Pro490Ser)
10g.47349953C>ACA376669929RBP3c.1469C>A (p.Pro490His)
10g.47349953C=CA1907805971RBP3c.1469C= (p.Pro490=)
10g.47349953C>GCA376669932RBP3c.1469C>G (p.Pro490Arg)
10g.47349953C>TCA376669931RBP3c.1469C>T (p.Pro490Leu)
dbSNP
10g.47349954C>ACA469781523RBP3c.1470C>A (p.Pro490=)
10g.47349954C=CA1907805972RBP3c.1470C= (p.Pro490=)
10g.47349954C>GCA469781522RBP3c.1470C>G (p.Pro490=)
dbSNP gnomAD v2 gnomAD v4
10g.47349954C>TCA469781521RBP3c.1470C>T (p.Pro490=)
dbSNP gnomAD v2 gnomAD v4
10g.47349955C>ACA376669935RBP3c.1471C>A (p.Leu491Met)
10g.47349955C>GCA376669942RBP3c.1471C>G (p.Leu491Val)
10g.47349955C>TCA469781524RBP3c.1471C>T (p.Leu491=)
10g.47349956delCA2580081520RBP3c.1472del (p.Leu491ArgfsTer?)
ClinVar
10g.47349956T>ACA206461897RBP3c.1472T>A (p.Leu491Gln)
10g.47349956T>CCA5487515RBP3c.1472T>C (p.Leu491Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349956T>GCA206461900RBP3c.1472T>G (p.Leu491Arg)
10g.47349956T=CA1907805974RBP3c.1472T= (p.Leu491=)
10g.47349957G>ACA206461926RBP3c.1473G>A (p.Leu491=)
10g.47349957G>CCA206461929RBP3c.1473G>C (p.Leu491=)
10g.47349957G=CA1907805975RBP3c.1473G= (p.Leu491=)
10g.47349957G>TCA5487514RBP3c.1473G>T (p.Leu491=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.47349958C>ACA376669949RBP3c.1474C>A (p.Leu492Ile)
10g.47349958C=CA1907805977RBP3c.1474C= (p.Leu492=)
10g.47349958C>GCA376669951RBP3c.1474C>G (p.Leu492Val)
10g.47349958C>TCA376669953RBP3c.1474C>T (p.Leu492Phe)
dbSNP gnomAD v4
10g.47349959T>ACA376669954RBP3c.1475T>A (p.Leu492His)
10g.47349959T>CCA376669956RBP3c.1475T>C (p.Leu492Pro)
10g.47349959T>GCA376669958RBP3c.1475T>G (p.Leu492Arg)
10g.47349960C>ACA469781525RBP3c.1476C>A (p.Leu492=)
10g.47349960C=CA1907805979RBP3c.1476C= (p.Leu492=)
10g.47349960C>GCA469781526RBP3c.1476C>G (p.Leu492=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.47349960C>TCA469781527RBP3c.1476C>T (p.Leu492=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.47349961C>ACA376669961RBP3c.1477C>A (p.Leu493Met)
10g.47349961C>GCA376669963RBP3c.1477C>G (p.Leu493Val)
10g.47349961C>TCA469781528RBP3c.1477C>T (p.Leu493=)
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)

Number of alleles fetched