Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137236070G>ACA201090SLC34A3c.1454G>A (p.Arg485His)
c.*13G>A (n.*13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.137236070G>CCA375740681SLC34A3c.1454G>C (p.Arg485Pro)
c.*13G>C (n.*13G>C)
dbSNP
9g.137236070G=CA1884372163SLC34A3c.1454G= (p.Arg485=)
c.*13G= (n.*13G=)
9g.137236070G>TCA375740683SLC34A3c.1454G>T (p.Arg485Leu)
c.*13G>T (n.*13G>T)
9g.137236071C>ACA467942405SLC34A3c.1455C>A (p.Arg485=)
c.*14C>A (n.*14C>A)
9g.137236071C>GCA467942407SLC34A3c.1455C>G (p.Arg485=)
c.*14C>G (n.*14C>G)
9g.137236071C>TCA467942409SLC34A3c.1455C>T (p.Arg485=)
c.*14C>T (n.*14C>T)
9g.137236072T>ACA375740686SLC34A3c.1456T>A (p.Trp486Arg)
c.*15T>A (n.*15T>A)
9g.137236072T>CCA375740688SLC34A3c.1456T>C (p.Trp486Arg)
c.*15T>C (n.*15T>C)
9g.137236072T>GCA375740690SLC34A3c.1456T>G (p.Trp486Gly)
c.*15T>G (n.*15T>G)
9g.137236073G>ACA375740692SLC34A3c.1457G>A (p.Trp486Ter)
c.*16G>A (n.*16G>A)
9g.137236073G>CCA375740693SLC34A3c.1457G>C (p.Trp486Ser)
c.*16G>C (n.*16G>C)
9g.137236073G>TCA375740695SLC34A3c.1457G>T (p.Trp486Leu)
c.*16G>T (n.*16G>T)
9g.137236073_137236080delinsGGGTGGCTCA1884372164SLC34A3c.1457_1464delinsGGGTGGCT (p.Trp486=)
c.*16_*23delinsGGGTGGCT (n.*16_*23delinsGGGTGGCT)
9g.137236074G>ACA375740697SLC34A3c.1458G>A (p.Trp486Ter)
c.*17G>A (n.*17G>A)
9g.137236074G>CCA375740699SLC34A3c.1458G>C (p.Trp486Cys)
c.*17G>C (n.*17G>C)
gnomAD v4
9g.137236074G=CA1884372165SLC34A3c.1458G= (p.Trp486=)
c.*17G= (n.*17G=)
9g.137236074G>TCA5364955SLC34A3c.1458G>T (p.Trp486Cys)
c.*17G>T (n.*17G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236076_137236082delCA591373901SLC34A3c.1460_1466del (p.Val487GlyfsTer?)
c.*19_*25del (n.*19_*25del)
dbSNP gnomAD v2 gnomAD v4
9g.137236075G>ACA375740703SLC34A3c.1459G>A (p.Val487Met)
c.*18G>A (n.*18G>A)
dbSNP
9g.137236075G>CCA5364956SLC34A3c.1459G>C (p.Val487Leu)
c.*18G>C (n.*18G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236075G=CA1884372166SLC34A3c.1459G= (p.Val487=)
c.*18G= (n.*18G=)
9g.137236075G>TCA375740701SLC34A3c.1459G>T (p.Val487Leu)
c.*18G>T (n.*18G>T)
9g.137236076T>ACA375740705SLC34A3c.1460T>A (p.Val487Glu)
c.*19T>A (n.*19T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236076T>CCA375740709SLC34A3c.1460T>C (p.Val487Ala)
c.*19T>C (n.*19T>C)
9g.137236076T>GCA375740707SLC34A3c.1460T>G (p.Val487Gly)
c.*19T>G (n.*19T>G)
9g.137236076T=CA1884372167SLC34A3c.1460T= (p.Val487=)
c.*19T= (n.*19T=)
9g.137236077G>ACA467942418SLC34A3c.1461G>A (p.Val487=)
c.*20G>A (n.*20G>A)
dbSNP gnomAD v2 gnomAD v4
9g.137236077G>CCA467942420SLC34A3c.1461G>C (p.Val487=)
c.*20G>C (n.*20G>C)
9g.137236077G=CA1884372168SLC34A3c.1461G= (p.Val487=)
c.*20G= (n.*20G=)
9g.137236077G>TCA467942421SLC34A3c.1461G>T (p.Val487=)
c.*20G>T (n.*20G>T)
9g.137236078G>ACA5364958SLC34A3c.1462G>A (p.Ala488Thr)
c.*21G>A (n.*21G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236078G>CCA5364957SLC34A3c.1462G>C (p.Ala488Pro)
c.*21G>C (n.*21G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236078G=CA1884372169SLC34A3c.1462G= (p.Ala488=)
c.*21G= (n.*21G=)
9g.137236078G>TCA375740712SLC34A3c.1462G>T (p.Ala488Ser)
c.*21G>T (n.*21G>T)
gnomAD v4
9g.137236079C>ACA375740714SLC34A3c.1463C>A (p.Ala488Asp)
c.*22C>A (n.*22C>A)
9g.137236079C>GCA375740715SLC34A3c.1463C>G (p.Ala488Gly)
c.*22C>G (n.*22C>G)
9g.137236079C>TCA375740718SLC34A3c.1463C>T (p.Ala488Val)
c.*22C>T (n.*22C>T)
9g.137236080T>ACA467942430SLC34A3c.1464T>A (p.Ala488=)
c.*23T>A (n.*23T>A)
9g.137236080T>CCA5364959SLC34A3c.1464T>C (p.Ala488=)
c.*23T>C (n.*23T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236080T>GCA467942431SLC34A3c.1464T>G (p.Ala488=)
c.*23T>G (n.*23T>G)
9g.137236080T=CA1884372170SLC34A3c.1464T= (p.Ala488=)
c.*23T= (n.*23T=)
9g.137236081G>ACA375740720SLC34A3c.1465G>A (p.Gly489Arg)
c.*24G>A (n.*24G>A)
gnomAD v4
9g.137236081G>CCA375740721SLC34A3c.1465G>C (p.Gly489Arg)
c.*24G>C (n.*24G>C)
9g.137236081G>TCA375740725SLC34A3c.1465G>T (p.Gly489Trp)
c.*24G>T (n.*24G>T)
9g.137236082G>ACA375740727SLC34A3c.1466G>A (p.Gly489Glu)
c.*25G>A (n.*25G>A)
9g.137236082G>CCA5364960SLC34A3c.1466G>C (p.Gly489Ala)
c.*25G>C (n.*25G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236082G=CA1884372171SLC34A3c.1466G= (p.Gly489=)
c.*25G= (n.*25G=)
9g.137236082G>TCA375740729SLC34A3c.1466G>T (p.Gly489Val)
c.*25G>T (n.*25G>T)
gnomAD v4
9g.137236083G>ACA467942435SLC34A3c.1467G>A (p.Gly489=)
c.*26G>A (n.*26G>A)
dbSNP gnomAD v4
9g.137236083G>CCA467942436SLC34A3c.1467G>C (p.Gly489=)
c.*26G>C (n.*26G>C)
9g.137236083G=CA1884372172SLC34A3c.1467G= (p.Gly489=)
c.*26G= (n.*26G=)
9g.137236083G>TCA467942437SLC34A3c.1467G>T (p.Gly489=)
c.*26G>T (n.*26G>T)
COSMIC
9g.137236083_137236093dupCA2580081037SLC34A3c.1467_1477dup (p.Leu493ArgfsTer?)
c.*26_*36dup (n.*26_*36dup)
ClinVar
9g.137236084G>ACA375740732SLC34A3c.1468G>A (p.Val490Ile)
c.*27G>A (n.*27G>A)
9g.137236084G>CCA375740734SLC34A3c.1468G>C (p.Val490Leu)
c.*27G>C (n.*27G>C)
9g.137236084G=CA1884372173SLC34A3c.1468G= (p.Val490=)
c.*27G= (n.*27G=)
9g.137236084G>TCA5364961SLC34A3c.1468G>T (p.Val490Phe)
c.*27G>T (n.*27G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236085T>ACA375740740SLC34A3c.1469T>A (p.Val490Asp)
c.*28T>A (n.*28T>A)
9g.137236085T>CCA375740739SLC34A3c.1469T>C (p.Val490Ala)
c.*28T>C (n.*28T>C)
gnomAD v4
9g.137236085T>GCA375740737SLC34A3c.1469T>G (p.Val490Gly)
c.*28T>G (n.*28T>G)
9g.137236086C>ACA467942441SLC34A3c.1470C>A (p.Val490=)
c.*29C>A (n.*29C>A)
9g.137236086C=CA1884372174SLC34A3c.1470C= (p.Val490=)
c.*29C= (n.*29C=)
9g.137236086C>GCA467942442SLC34A3c.1470C>G (p.Val490=)
c.*29C>G (n.*29C>G)
dbSNP gnomAD v2 gnomAD v4
9g.137236086C>TCA5364962SLC34A3c.1470C>T (p.Val490=)
c.*29C>T (n.*29C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236087T>ACA375740744SLC34A3c.1471T>A (p.Tyr491Asn)
c.*30T>A (n.*30T>A)
9g.137236087T>CCA375740746SLC34A3c.1471T>C (p.Tyr491His)
c.*30T>C (n.*30T>C)
gnomAD v4
9g.137236087T>GCA375740748SLC34A3c.1471T>G (p.Tyr491Asp)
c.*30T>G (n.*30T>G)
9g.137236088A>CCA375740750SLC34A3c.1472A>C (p.Tyr491Ser)
c.*31A>C (n.*31A>C)
9g.137236088A>GCA375740752SLC34A3c.1472A>G (p.Tyr491Cys)
c.*31A>G (n.*31A>G)
9g.137236088A>TCA375740754SLC34A3c.1472A>T (p.Tyr491Phe)
c.*31A>T (n.*31A>T)
9g.137236089C>ACA375740755SLC34A3c.1473C>A (p.Tyr491Ter)
c.*32C>A (n.*32C>A)
dbSNP gnomAD v3 gnomAD v4
9g.137236089C=CA1884372175SLC34A3c.1473C= (p.Tyr491=)
c.*32C= (n.*32C=)
9g.137236089C>GCA375740756SLC34A3c.1473C>G (p.Tyr491Ter)
c.*32C>G (n.*32C>G)
9g.137236089C>TCA5364963SLC34A3c.1473C>T (p.Tyr491=)
c.*32C>T (n.*32C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236098_137236112delCA2580081038SLC34A3c.1482_1496del (p.Gly495_Leu499del)
c.*41_*55del (n.*41_*55del)
ClinVar gnomAD v4
9g.137236090C>ACA375740759SLC34A3c.1474C>A (p.Leu492Met)
c.*33C>A (n.*33C>A)
9g.137236090C=CA1884372176SLC34A3c.1474C= (p.Leu492=)
c.*33C= (n.*33C=)
9g.137236090C>GCA201699917SLC34A3c.1474C>G (p.Leu492Val)
c.*33C>G (n.*33C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236090C>TCA5364964SLC34A3c.1474C>T (p.Leu492=)
c.*33C>T (n.*33C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236091T>ACA375740764SLC34A3c.1475T>A (p.Leu492Gln)
c.*34T>A (n.*34T>A)
9g.137236091T>CCA375740766SLC34A3c.1475T>C (p.Leu492Pro)
c.*34T>C (n.*34T>C)
9g.137236091T>GCA375740763SLC34A3c.1475T>G (p.Leu492Arg)
c.*34T>G (n.*34T>G)
9g.137236092G>ACA467942457SLC34A3c.1476G>A (p.Leu492=)
c.*35G>A (n.*35G>A)
dbSNP
9g.137236092G>CCA467942458SLC34A3c.1476G>C (p.Leu492=)
c.*35G>C (n.*35G>C)
9g.137236092G=CA1884372177SLC34A3c.1476G= (p.Leu492=)
c.*35G= (n.*35G=)
9g.137236092G>TCA467942459SLC34A3c.1476G>T (p.Leu492=)
c.*35G>T (n.*35G>T)
9g.137236093C>ACA375740768SLC34A3c.1477C>A (p.Leu493Met)
c.*36C>A (n.*36C>A)
dbSNP gnomAD v2 gnomAD v4
9g.137236093C=CA1884372178SLC34A3c.1477C= (p.Leu493=)
c.*36C= (n.*36C=)
9g.137236093C>GCA375740770SLC34A3c.1477C>G (p.Leu493Val)
c.*36C>G (n.*36C>G)
9g.137236093C>TCA467942463SLC34A3c.1477C>T (p.Leu493=)
c.*36C>T (n.*36C>T)
9g.137236094T>ACA375740772SLC34A3c.1478T>A (p.Leu493Gln)
c.*37T>A (n.*37T>A)
dbSNP gnomAD v2 gnomAD v4
9g.137236094T>CCA375740774SLC34A3c.1478T>C (p.Leu493Pro)
c.*37T>C (n.*37T>C)
gnomAD v4
9g.137236094T>GCA375740775SLC34A3c.1478T>G (p.Leu493Arg)
c.*37T>G (n.*37T>G)
9g.137236094T=CA1884372179SLC34A3c.1478T= (p.Leu493=)
c.*37T= (n.*37T=)
9g.137236095G>ACA467942464SLC34A3c.1479G>A (p.Leu493=)
c.*38G>A (n.*38G>A)
dbSNP gnomAD v4
9g.137236095G>CCA467942465SLC34A3c.1479G>C (p.Leu493=)
c.*38G>C (n.*38G>C)
9g.137236095G>TCA467942466SLC34A3c.1479G>T (p.Leu493=)
c.*38G>T (n.*38G>T)
9g.137236096C>ACA375740778SLC34A3c.1480C>A (p.Leu494Ile)
c.*39C>A (n.*39C>A)
9g.137236096C=CA1884372180SLC34A3c.1480C= (p.Leu494=)
c.*39C= (n.*39C=)
9g.137236096C>GCA375740780SLC34A3c.1480C>G (p.Leu494Val)
c.*39C>G (n.*39C>G)
9g.137236096C>TCA201699920SLC34A3c.1480C>T (p.Leu494Phe)
c.*39C>T (n.*39C>T)
dbSNP gnomAD v3 gnomAD v4
9g.137236097T>ACA375740783SLC34A3c.1481T>A (p.Leu494His)
c.*40T>A (n.*40T>A)
9g.137236097T>CCA375740784SLC34A3c.1481T>C (p.Leu494Pro)
c.*40T>C (n.*40T>C)
9g.137236097T>GCA375740785SLC34A3c.1481T>G (p.Leu494Arg)
c.*40T>G (n.*40T>G)
9g.137236098C>ACA467942468SLC34A3c.1482C>A (p.Leu494=)
c.*41C>A (n.*41C>A)
9g.137236098C=CA1884372181SLC34A3c.1482C= (p.Leu494=)
c.*41C= (n.*41C=)
9g.137236098C>GCA467942471SLC34A3c.1482C>G (p.Leu494=)
c.*41C>G (n.*41C>G)
gnomAD v4
9g.137236098C>TCA5364965SLC34A3c.1482C>T (p.Leu494=)
c.*41C>T (n.*41C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236099G>ACA5364966SLC34A3c.1483G>A (p.Gly495Arg)
c.*42G>A (n.*42G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.137236099G>CCA375740788SLC34A3c.1483G>C (p.Gly495Arg)
c.*42G>C (n.*42G>C)
9g.137236099G=CA1884372182SLC34A3c.1483G= (p.Gly495=)
c.*42G= (n.*42G=)
9g.137236099G>TCA375740789SLC34A3c.1483G>T (p.Gly495Ter)
c.*42G>T (n.*42G>T)
9g.137236100G>ACA375740792SLC34A3c.1484G>A (p.Gly495Glu)
c.*43G>A (n.*43G>A)
9g.137236100G>CCA5364967SLC34A3c.1484G>C (p.Gly495Ala)
c.*43G>C (n.*43G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236100G=CA1884372183SLC34A3c.1484G= (p.Gly495=)
c.*43G= (n.*43G=)
9g.137236100G>TCA375740795SLC34A3c.1484G>T (p.Gly495Val)
c.*43G>T (n.*43G>T)
9g.137236101A>CCA467942477SLC34A3c.1485A>C (p.Gly495=)
c.*44A>C (n.*44A>C)
9g.137236101A>GCA467942480SLC34A3c.1485A>G (p.Gly495=)
c.*44A>G (n.*44A>G)
gnomAD v4
9g.137236101A>TCA467942482SLC34A3c.1485A>T (p.Gly495=)
c.*44A>T (n.*44A>T)
9g.137236102T>ACA375740797SLC34A3c.1486T>A (p.Phe496Ile)
c.*45T>A (n.*45T>A)
9g.137236102T>CCA375740798SLC34A3c.1486T>C (p.Phe496Leu)
c.*45T>C (n.*45T>C)
9g.137236102T>GCA375740799SLC34A3c.1486T>G (p.Phe496Val)
c.*45T>G (n.*45T>G)
9g.137236103T>ACA375740802SLC34A3c.1487T>A (p.Phe496Tyr)
c.*46T>A (n.*46T>A)
9g.137236103T>CCA375740804SLC34A3c.1487T>C (p.Phe496Ser)
c.*46T>C (n.*46T>C)
9g.137236103T>GCA375740805SLC34A3c.1487T>G (p.Phe496Cys)
c.*46T>G (n.*46T>G)
9g.137236104C>ACA375740807SLC34A3c.1488C>A (p.Phe496Leu)
c.*47C>A (n.*47C>A)
9g.137236104C>GCA375740809SLC34A3c.1488C>G (p.Phe496Leu)
c.*47C>G (n.*47C>G)
gnomAD v4
9g.137236104C>TCA467942485SLC34A3c.1488C>T (p.Phe496=)
c.*47C>T (n.*47C>T)
gnomAD v4
9g.137236104_137236107delinsCCTGCA1884372184SLC34A3c.1488_1491delinsCCTG (p.Phe496=)
c.*47_*50delinsCCTG (n.*47_*50delinsCCTG)
9g.137236105C>ACA375740814SLC34A3c.1489C>A (p.Leu497Met)
c.*48C>A (n.*48C>A)
9g.137236105C=CA1884372185SLC34A3c.1489C= (p.Leu497=)
c.*48C= (n.*48C=)
9g.137236105C>GCA375740812SLC34A3c.1489C>G (p.Leu497Val)
c.*48C>G (n.*48C>G)
9g.137236105C>TCA5364969SLC34A3c.1489C>T (p.Leu497=)
c.*48C>T (n.*48C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236112_137236114delCA5364968SLC34A3c.1496_1498del (p.Leu499del)
c.*55_*57del (n.*55_*57del)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236106T>ACA375740819SLC34A3c.1490T>A (p.Leu497Gln)
c.*49T>A (n.*49T>A)
9g.137236106T>CCA375740817SLC34A3c.1490T>C (p.Leu497Pro)
c.*49T>C (n.*49T>C)
gnomAD v4
9g.137236106T>GCA375740818SLC34A3c.1490T>G (p.Leu497Arg)
c.*49T>G (n.*49T>G)
9g.137236107G>ACA5364970SLC34A3c.1491G>A (p.Leu497=)
c.*50G>A (n.*50G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236107G>CCA467942494SLC34A3c.1491G>C (p.Leu497=)
c.*50G>C (n.*50G>C)
9g.137236107G=CA1884372186SLC34A3c.1491G= (p.Leu497=)
c.*50G= (n.*50G=)
9g.137236107G>TCA467942495SLC34A3c.1491G>T (p.Leu497=)
c.*50G>T (n.*50G>T)
gnomAD v4
9g.137236108C>ACA375740822SLC34A3c.1492C>A (p.Leu498Met)
c.*51C>A (n.*51C>A)
9g.137236108C=CA1884372187SLC34A3c.1492C= (p.Leu498=)
c.*51C= (n.*51C=)
9g.137236108C>GCA375740824SLC34A3c.1492C>G (p.Leu498Val)
c.*51C>G (n.*51C>G)
9g.137236108C>TCA5364971SLC34A3c.1492C>T (p.Leu498=)
c.*51C>T (n.*51C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236109T>ACA375740826SLC34A3c.1493T>A (p.Leu498Gln)
c.*52T>A (n.*52T>A)
9g.137236109T>CCA375740827SLC34A3c.1493T>C (p.Leu498Pro)
c.*52T>C (n.*52T>C)
9g.137236109T>GCA375740829SLC34A3c.1493T>G (p.Leu498Arg)
c.*52T>G (n.*52T>G)
9g.137236110G>ACA467942500SLC34A3c.1494G>A (p.Leu498=)
c.*53G>A (n.*53G>A)
dbSNP
9g.137236110G>CCA467942502SLC34A3c.1494G>C (p.Leu498=)
c.*53G>C (n.*53G>C)
9g.137236110G=CA1884372188SLC34A3c.1494G= (p.Leu498=)
c.*53G= (n.*53G=)
9g.137236110G>TCA467942501SLC34A3c.1494G>T (p.Leu498=)
c.*53G>T (n.*53G>T)
9g.137236111C>ACA375740831SLC34A3c.1495C>A (p.Leu499Met)
c.*54C>A (n.*54C>A)
9g.137236111C>GCA375740832SLC34A3c.1495C>G (p.Leu499Val)
c.*54C>G (n.*54C>G)
9g.137236111C>TCA467942504SLC34A3c.1495C>T (p.Leu499=)
c.*54C>T (n.*54C>T)
9g.137236112T>ACA375740837SLC34A3c.1496T>A (p.Leu499Gln)
c.*55T>A (n.*55T>A)
9g.137236112T>CCA5364972SLC34A3c.1496T>C (p.Leu499Pro)
c.*55T>C (n.*55T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236112T>GCA375740835SLC34A3c.1496T>G (p.Leu499Arg)
c.*55T>G (n.*55T>G)
9g.137236112T=CA1884372189SLC34A3c.1496T= (p.Leu499=)
c.*55T= (n.*55T=)
9g.137236113G>ACA467942508SLC34A3c.1497G>A (p.Leu499=)
c.*56G>A (n.*56G>A)
gnomAD v4
9g.137236113G>CCA467942510SLC34A3c.1497G>C (p.Leu499=)
c.*56G>C (n.*56G>C)
9g.137236113G=CA1884372190SLC34A3c.1497G= (p.Leu499=)
c.*56G= (n.*56G=)
9g.137236113G>TCA467942511SLC34A3c.1497G>T (p.Leu499=)
c.*56G>T (n.*56G>T)
dbSNP gnomAD v2
9g.137236114C>ACA375740840SLC34A3c.1498C>A (p.Pro500Thr)
c.*57C>A (n.*57C>A)
9g.137236114C=CA1884372191SLC34A3c.1498C= (p.Pro500=)
c.*57C= (n.*57C=)
9g.137236114C>GCA375740841SLC34A3c.1498C>G (p.Pro500Ala)
c.*57C>G (n.*57C>G)
gnomAD v4
9g.137236114C>TCA375740842SLC34A3c.1498C>T (p.Pro500Ser)
c.*57C>T (n.*57C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236117delCA2692818226SLC34A3c.1501del (p.Leu501TrpfsTer?)
c.*60del (n.*60del)
gnomAD v4
9g.137236115C>ACA375740844SLC34A3c.1499C>A (p.Pro500His)
c.*58C>A (n.*58C>A)
9g.137236115C>GCA375740845SLC34A3c.1499C>G (p.Pro500Arg)
c.*58C>G (n.*58C>G)
9g.137236115C>TCA375740847SLC34A3c.1499C>T (p.Pro500Leu)
c.*58C>T (n.*58C>T)
9g.137236122_137236142dupCA591374002SLC34A3c.1506_1526dup (p.Ala509_Gly510insAlaPheGlyLeuSerLeuAla)
dbSNP gnomAD v2 gnomAD v4
9g.137236116C>ACA467942515SLC34A3c.1500C>A (p.Pro500=)
c.*59C>A (n.*59C>A)
9g.137236116C=CA1884372192SLC34A3c.1500C= (p.Pro500=)
c.*59C= (n.*59C=)
9g.137236116C>GCA467942517SLC34A3c.1500C>G (p.Pro500=)
c.*59C>G (n.*59C>G)
9g.137236116C>TCA5364973SLC34A3c.1500C>T (p.Pro500=)
c.*59C>T (n.*59C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236117C>ACA375740850SLC34A3c.1501C>A (p.Leu501Met)
c.*60C>A (n.*60C>A)
9g.137236117C=CA1884372193SLC34A3c.1501C= (p.Leu501=)
c.*60C= (n.*60C=)
9g.137236117C>GCA375740852SLC34A3c.1501C>G (p.Leu501Val)
c.*60C>G (n.*60C>G)
9g.137236117C>TCA201699968SLC34A3c.1501C>T (p.Leu501=)
c.*60C>T (n.*60C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236117_137236118delinsCTCA1884372194SLC34A3c.1501_1502delinsCT (p.Leu501=)
c.*60_*61delinsCT (n.*60_*61delinsCT)
9g.137236118delCA916083097SLC34A3c.1502del (p.Leu501ArgfsTer?)
c.*61del (n.*61del)
ClinVar dbSNP
9g.137236118T>ACA375740855SLC34A3c.1502T>A (p.Leu501Gln)
c.*61T>A (n.*61T>A)
9g.137236118T>CCA375740856SLC34A3c.1502T>C (p.Leu501Pro)
c.*61T>C (n.*61T>C)
9g.137236118T>GCA375740858SLC34A3c.1502T>G (p.Leu501Arg)
c.*61T>G (n.*61T>G)
9g.137236119G>ACA467942519SLC34A3c.1503G>A (p.Leu501=)
c.*62G>A (n.*62G>A)
9g.137236119G>CCA467942522SLC34A3c.1503G>C (p.Leu501=)
c.*62G>C (n.*62G>C)
gnomAD v4
9g.137236119G>TCA467942523SLC34A3c.1503G>T (p.Leu501=)
c.*62G>T (n.*62G>T)
9g.137236120G>ACA375740862SLC34A3c.1504G>A (p.Ala502Thr)
c.*63G>A (n.*63G>A)
gnomAD v4
9g.137236120G>CCA375740864SLC34A3c.1504G>C (p.Ala502Pro)
c.*63G>C (n.*63G>C)
gnomAD v4
9g.137236120G>TCA375740861SLC34A3c.1504G>T (p.Ala502Ser)
c.*63G>T (n.*63G>T)
9g.137236121C>ACA375740865SLC34A3c.1505C>A (p.Ala502Glu)
c.*64C>A (n.*64C>A)
9g.137236121C=CA1884372195SLC34A3c.1505C= (p.Ala502=)
c.*64C= (n.*64C=)
9g.137236121C>GCA375740870SLC34A3c.1505C>G (p.Ala502Gly)
c.*64C>G (n.*64C>G)
9g.137236121C>TCA5364974SLC34A3c.1505C>T (p.Ala502Val)
c.*64C>T (n.*64C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236122G>ACA5364975SLC34A3c.1506G>A (p.Ala502=)
c.*65G>A (n.*65G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236122G>CCA467942528SLC34A3c.1506G>C (p.Ala502=)
c.*65G>C (n.*65G>C)
9g.137236122G=CA1884372196SLC34A3c.1506G= (p.Ala502=)
c.*65G= (n.*65G=)
9g.137236122G>TCA467942529SLC34A3c.1506G>T (p.Ala502=)
c.*65G>T (n.*65G>T)
9g.137236125_137236149delCA2692818227SLC34A3c.1509_1533del (p.Phe504TrpfsTer?)
gnomAD v4
9g.137236123G>ACA5364976SLC34A3c.1507G>A (p.Ala503Thr)
c.*66G>A (n.*66G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236123G>CCA375740871SLC34A3c.1507G>C (p.Ala503Pro)
c.*66G>C (n.*66G>C)
9g.137236123G=CA1884372197SLC34A3c.1507G= (p.Ala503=)
c.*66G= (n.*66G=)
9g.137236123G>TCA375740872SLC34A3c.1507G>T (p.Ala503Ser)
c.*66G>T (n.*66G>T)
9g.137236124C>ACA375740873SLC34A3c.1508C>A (p.Ala503Asp)
c.*67C>A (n.*67C>A)
gnomAD v4
9g.137236124C>GCA375740874SLC34A3c.1508C>G (p.Ala503Gly)
c.*67C>G (n.*67C>G)
9g.137236124C>TCA375740875SLC34A3c.1508C>T (p.Ala503Val)
c.*67C>T (n.*67C>T)
gnomAD v4
9g.137236125C>ACA467942535SLC34A3c.1509C>A (p.Ala503=)
c.*68C>A (n.*68C>A)
COSMIC
9g.137236125C>GCA467942536SLC34A3c.1509C>G (p.Ala503=)
c.*68C>G (n.*68C>G)
9g.137236125C>TCA467942537SLC34A3c.1509C>T (p.Ala503=)
c.*68C>T (n.*68C>T)
9g.137236126T>ACA375740876SLC34A3c.1510T>A (p.Phe504Ile)
c.*69T>A (n.*69T>A)
9g.137236126T>CCA375740877SLC34A3c.1510T>C (p.Phe504Leu)
c.*69T>C (n.*69T>C)
9g.137236126T>GCA375740878SLC34A3c.1510T>G (p.Phe504Val)
c.*69T>G (n.*69T>G)
9g.137236127T>ACA375740881SLC34A3c.1511T>A (p.Phe504Tyr)
c.*70T>A (n.*70T>A)
9g.137236127T>CCA375740880SLC34A3c.1511T>C (p.Phe504Ser)
c.*70T>C (n.*70T>C)
9g.137236127T>GCA375740879SLC34A3c.1511T>G (p.Phe504Cys)
c.*70T>G (n.*70T>G)
dbSNP
9g.137236127T=CA1884372198SLC34A3c.1511T= (p.Phe504=)
c.*70T= (n.*70T=)
9g.137236128C>ACA375740882SLC34A3c.1512C>A (p.Phe504Leu)
c.*71C>A (n.*71C>A)
9g.137236128C=CA1884372199SLC34A3c.1512C= (p.Phe504=)
c.*71C= (n.*71C=)
9g.137236128C>GCA375740883SLC34A3c.1512C>G (p.Phe504Leu)
c.*71C>G (n.*71C>G)
9g.137236128C>TCA5364977SLC34A3c.1512C>T (p.Phe504=)
c.*71C>T (n.*71C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236129G>ACA5364978SLC34A3c.1513G>A (p.Gly505Arg)
c.*72G>A (n.*72G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236129G>CCA375740884SLC34A3c.1513G>C (p.Gly505Arg)
c.*72G>C (n.*72G>C)
gnomAD v4
9g.137236129G=CA1884372200SLC34A3c.1513G= (p.Gly505=)
c.*72G= (n.*72G=)
9g.137236129G>TCA375740885SLC34A3c.1513G>T (p.Gly505Trp)
c.*72G>T (n.*72G>T)
gnomAD v4
9g.137236130G>ACA375740886SLC34A3c.1514G>A (p.Gly505Glu)
c.*73G>A (n.*73G>A)
9g.137236130G>CCA375740887SLC34A3c.1514G>C (p.Gly505Ala)
c.*73G>C (n.*73G>C)
9g.137236130G>TCA375740888SLC34A3c.1514G>T (p.Gly505Val)
c.*73G>T (n.*73G>T)
9g.137236131G>ACA467942544SLC34A3c.1515G>A (p.Gly505=)
c.*74G>A (n.*74G>A)
dbSNP gnomAD v3 gnomAD v4
9g.137236131G>CCA467942545SLC34A3c.1515G>C (p.Gly505=)
c.*74G>C (n.*74G>C)
dbSNP gnomAD v2 gnomAD v4
9g.137236131G=CA1884372201SLC34A3c.1515G= (p.Gly505=)
c.*74G= (n.*74G=)
9g.137236131G>TCA467942543SLC34A3c.1515G>T (p.Gly505=)
c.*74G>T (n.*74G>T)
gnomAD v4
9g.137236132C>ACA201700001SLC34A3c.1516C>A (p.Leu506Ile)
c.*75C>A (n.*75C>A)
dbSNP
9g.137236132C=CA1884372202SLC34A3c.1516C= (p.Leu506=)
c.*75C= (n.*75C=)
9g.137236132C>GCA375740889SLC34A3c.1516C>G (p.Leu506Val)
c.*75C>G (n.*75C>G)
gnomAD v4
9g.137236132C>TCA375740890SLC34A3c.1516C>T (p.Leu506Phe)
c.*75C>T (n.*75C>T)
9g.137236133T>ACA201700002SLC34A3c.1517T>A (p.Leu506His)
c.*76T>A (n.*76T>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137236133T>CCA375740892SLC34A3c.1517T>C (p.Leu506Pro)
c.*76T>C (n.*76T>C)
9g.137236133T>GCA375740891SLC34A3c.1517T>G (p.Leu506Arg)
c.*76T>G (n.*76T>G)
9g.137236133T=CA1884372203SLC34A3c.1517T= (p.Leu506=)
c.*76T= (n.*76T=)
9g.137236134C>ACA467942551SLC34A3c.1518C>A (p.Leu506=)
c.*77C>A (n.*77C>A)
9g.137236134C>GCA467942554SLC34A3c.1518C>G (p.Leu506=)
c.*77C>G (n.*77C>G)
dbSNP gnomAD v3 gnomAD v4
9g.137236134C>TCA467942557SLC34A3c.1518C>T (p.Leu506=)
c.*77C>T (n.*77C>T)
gnomAD v4
9g.137236135T>ACA375740893SLC34A3c.1519T>A (p.Ser507Thr)
c.*78T>A (n.*78T>A)
9g.137236135T>CCA375740895SLC34A3c.1519T>C (p.Ser507Pro)
c.*78T>C (n.*78T>C)
9g.137236135T>GCA375740894SLC34A3c.1519T>G (p.Ser507Ala)
c.*78T>G (n.*78T>G)
9g.137236136C>ACA375740896SLC34A3c.1520C>A (p.Ser507Tyr)
c.*79C>A (n.*79C>A)
9g.137236136C=CA1884372204SLC34A3c.1520C= (p.Ser507=)
c.*79C= (n.*79C=)
9g.137236136C>GCA375740897SLC34A3c.1520C>G (p.Ser507Cys)
c.*79C>G (n.*79C>G)
9g.137236136C>TCA5364979SLC34A3c.1520C>T (p.Ser507Phe)
c.*79C>T (n.*79C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236137C>ACA467942561SLC34A3c.1521C>A (p.Ser507=)
c.*80C>A (n.*80C>A)
9g.137236137C=CA1884372205SLC34A3c.1521C= (p.Ser507=)
c.*80C= (n.*80C=)
9g.137236137C>GCA467942562SLC34A3c.1521C>G (p.Ser507=)
c.*80C>G (n.*80C>G)
dbSNP gnomAD v2 gnomAD v4
9g.137236137C>TCA467942563SLC34A3c.1521C>T (p.Ser507=)
c.*80C>T (n.*80C>T)
9g.137236138C>ACA375740898SLC34A3c.1522C>A (p.Leu508Met)
c.*81C>A (n.*81C>A)
9g.137236138C>GCA375740899SLC34A3c.1522C>G (p.Leu508Val)
c.*81C>G (n.*81C>G)
9g.137236138C>TCA467942565SLC34A3c.1522C>T (p.Leu508=)
c.*81C>T (n.*81C>T)
9g.137236139T>ACA375740900SLC34A3c.1523T>A (p.Leu508Gln)
c.*82T>A (n.*82T>A)
9g.137236139T>CCA5364980SLC34A3c.1523T>C (p.Leu508Pro)
c.*82T>C (n.*82T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236139T>GCA375740901SLC34A3c.1523T>G (p.Leu508Arg)
c.*82T>G (n.*82T>G)
9g.137236139T=CA1884372206SLC34A3c.1523T= (p.Leu508=)
c.*82T= (n.*82T=)
9g.137236140G>ACA5364981SLC34A3c.1524G>A (p.Leu508=)
c.*83G>A (n.*83G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236140G>CCA467942567SLC34A3c.1524G>C (p.Leu508=)
c.*83G>C (n.*83G>C)
9g.137236140G=CA1884372207SLC34A3c.1524G= (p.Leu508=)
c.*83G= (n.*83G=)
9g.137236140G>TCA467942568SLC34A3c.1524G>T (p.Leu508=)
c.*83G>T (n.*83G>T)
gnomAD v4
9g.137236141G>ACA375740902SLC34A3c.1525G>A (p.Ala509Thr)
c.*84G>A (n.*84G>A)
dbSNP gnomAD v2 gnomAD v4
9g.137236141G>CCA375740903SLC34A3c.1525G>C (p.Ala509Pro)
c.*84G>C (n.*84G>C)
9g.137236141G=CA1884372208SLC34A3c.1525G= (p.Ala509=)
c.*84G= (n.*84G=)
9g.137236141G>TCA5364982SLC34A3c.1525G>T (p.Ala509Ser)
c.*84G>T (n.*84G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236142C>ACA5364983SLC34A3c.1526C>A (p.Ala509Glu)
c.*85C>A (n.*85C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236142C=CA1884372209SLC34A3c.1526C= (p.Ala509=)
c.*85C= (n.*85C=)
9g.137236142C>GCA375740904SLC34A3c.1526C>G (p.Ala509Gly)
c.*85C>G (n.*85C>G)
9g.137236142C>TCA375740905SLC34A3c.1526C>T (p.Ala509Val)
c.*85C>T (n.*85C>T)
gnomAD v4
9g.137236143A=CA1884372210SLC34A3c.1527A= (p.Ala509=)
9g.137236143A>CCA467942572SLC34A3c.1527A>C (p.Ala509=)
9g.137236143A>GCA467942574SLC34A3c.1527A>G (p.Ala509=)
dbSNP
9g.137236143A>TCA467942573SLC34A3c.1527A>T (p.Ala509=)
9g.137236144G>ACA375740907SLC34A3c.1528G>A (p.Gly510Arg)
gnomAD v4
9g.137236144G>CCA5364984SLC34A3c.1528G>C (p.Gly510Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236144G=CA1884372211SLC34A3c.1528G= (p.Gly510=)
9g.137236144G>TCA375740906SLC34A3c.1528G>T (p.Gly510Trp)
gnomAD v4
9g.137236148delCA2692818228SLC34A3c.1532del (p.Gly511AlafsTer?)
gnomAD v4
9g.137236145G>ACA375740908SLC34A3c.1529G>A (p.Gly510Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.137236145G>CCA375740909SLC34A3c.1529G>C (p.Gly510Ala)
gnomAD v4
9g.137236145G=CA1884372212SLC34A3c.1529G= (p.Gly510=)
9g.137236145G>TCA375740910SLC34A3c.1529G>T (p.Gly510Val)
gnomAD v4
9g.137236146G>ACA467942576SLC34A3c.1530G>A (p.Gly510=)
dbSNP gnomAD v4
9g.137236146G>CCA467942577SLC34A3c.1530G>C (p.Gly510=)
9g.137236146G=CA1884372213SLC34A3c.1530G= (p.Gly510=)
9g.137236146G>TCA467942578SLC34A3c.1530G>T (p.Gly510=)
gnomAD v4
9g.137236147G>ACA375740911SLC34A3c.1531G>A (p.Gly511Ser)
gnomAD v4
9g.137236147G>CCA375740912SLC34A3c.1531G>C (p.Gly511Arg)
9g.137236147G>TCA375740913SLC34A3c.1531G>T (p.Gly511Cys)
gnomAD v4
9g.137236148G>ACA375740914SLC34A3c.1532G>A (p.Gly511Asp)
dbSNP gnomAD v3 gnomAD v4
9g.137236148G>CCA375740915SLC34A3c.1532G>C (p.Gly511Ala)
9g.137236148G=CA1884372214SLC34A3c.1532G= (p.Gly511=)
9g.137236148G>TCA375740916SLC34A3c.1532G>T (p.Gly511Val)
gnomAD v4
9g.137236149C>ACA5364985SLC34A3c.1533C>A (p.Gly511=)
dbSNP ExAC
9g.137236149C=CA1884372215SLC34A3c.1533C= (p.Gly511=)
9g.137236149C>GCA467942581SLC34A3c.1533C>G (p.Gly511=)
9g.137236149C>TCA467942580SLC34A3c.1533C>T (p.Gly511=)
dbSNP gnomAD v3 gnomAD v4
9g.137236150A>CCA375740924SLC34A3c.1534A>C (p.Met512Leu)
9g.137236150A>GCA375740921SLC34A3c.1534A>G (p.Met512Val)
gnomAD v4
9g.137236150A>TCA375740919SLC34A3c.1534A>T (p.Met512Leu)
9g.137236151T>ACA375740928SLC34A3c.1535T>A (p.Met512Lys)
9g.137236151T>CCA5364986SLC34A3c.1535T>C (p.Met512Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236151T>GCA375740930SLC34A3c.1535T>G (p.Met512Arg)
gnomAD v4
9g.137236151T=CA1884372216SLC34A3c.1535T= (p.Met512=)
9g.137236152G>ACA5364987SLC34A3c.1536G>A (p.Met512Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236152G>CCA375740935SLC34A3c.1536G>C (p.Met512Ile)
9g.137236152G=CA1884372217SLC34A3c.1536G= (p.Met512=)
9g.137236152G>TCA375740937SLC34A3c.1536G>T (p.Met512Ile)
gnomAD v4
9g.137236153G>ACA375740942SLC34A3c.1537G>A (p.Glu513Lys)
c.1537G>A (p.Val513Met)
9g.137236153G>CCA5364988SLC34A3c.1537G>C (p.Glu513Gln)
c.1537G>C (p.Val513Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236153G=CA1884372218SLC34A3c.1537G= (p.Glu513=)
c.1537G= (p.Val513=)
9g.137236153G>TCA375740940SLC34A3c.1537G>T (p.Glu513Ter)
c.1537G>T (p.Val513Leu)
gnomAD v4
9g.137236154A=CA1630848161SLC34A3c.1538A= (p.Glu513=)
9g.137236154A>CCA375740943SLC34A3c.1538A>C (p.Glu513Ala)
gnomAD v4
9g.137236154A>GCA375740944SLC34A3c.1538A>G (p.Glu513Gly)
dbSNP
9g.137236154A>TCA201084SLC34A3c.1538A>T (p.Glu513Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236155G>ACA467942593SLC34A3c.1539G>A (p.Glu513=)
c.1539G>A (p.Val513=)
gnomAD v4
9g.137236155G>CCA375740945SLC34A3c.1539G>C (p.Glu513Asp)
c.1539G>C (p.Val513=)
9g.137236155G>TCA375740948SLC34A3c.1539G>T (p.Glu513Asp)
c.1539G>T (p.Val513=)
gnomAD v4
9g.137236156C>ACA375740951SLC34A3c.1540C>A (p.Leu514Met)
dbSNP gnomAD v3 gnomAD v4
9g.137236156C=CA1884372219SLC34A3c.1540C= (p.Leu514=)
9g.137236156C>GCA375740955SLC34A3c.1540C>G (p.Leu514Val)
9g.137236156C>TCA5364989SLC34A3c.1540C>T (p.Leu514=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.137236157T>ACA375740958SLC34A3c.1541T>A (p.Leu514Gln)
9g.137236157T>CCA375740959SLC34A3c.1541T>C (p.Leu514Pro)
9g.137236157T>GCA375740960SLC34A3c.1541T>G (p.Leu514Arg)
9g.137236158G>ACA467942598SLC34A3c.1542G>A (p.Leu514=)
gnomAD v4
9g.137236158G>CCA467942596SLC34A3c.1542G>C (p.Leu514=)
9g.137236158G>TCA467942597SLC34A3c.1542G>T (p.Leu514=)
9g.137236159G>ACA375740962SLC34A3c.1543G>A (p.Ala515Thr)
dbSNP gnomAD v3 gnomAD v4
9g.137236159G>CCA375740964SLC34A3c.1543G>C (p.Ala515Pro)
9g.137236159G=CA1884372220SLC34A3c.1543G= (p.Ala515=)
9g.137236159G>TCA375740967SLC34A3c.1543G>T (p.Ala515Ser)
gnomAD v4
9g.137236160C>ACA375740970SLC34A3c.1544C>A (p.Ala515Asp)
gnomAD v4
9g.137236160C>GCA375740974SLC34A3c.1544C>G (p.Ala515Gly)
9g.137236160C>TCA375740977SLC34A3c.1544C>T (p.Ala515Val)
gnomAD v4
9g.137236161C>ACA467942604SLC34A3c.1545C>A (p.Ala515=)
gnomAD v4
9g.137236161C=CA1884372221SLC34A3c.1545C= (p.Ala515=)
9g.137236161C>GCA467942606SLC34A3c.1545C>G (p.Ala515=)
9g.137236161C>TCA5364990SLC34A3c.1545C>T (p.Ala515=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236162G>ACA5364991SLC34A3c.1546G>A (p.Ala516Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236162G>CCA375740981SLC34A3c.1546G>C (p.Ala516Pro)
9g.137236162G=CA1884372222SLC34A3c.1546G= (p.Ala516=)
9g.137236162G>TCA201700046SLC34A3c.1546G>T (p.Ala516Ser)
dbSNP gnomAD v4
9g.137236163C>ACA375740986SLC34A3c.1547C>A (p.Ala516Asp)
dbSNP gnomAD v3 gnomAD v4
9g.137236163C=CA1884372223SLC34A3c.1547C= (p.Ala516=)
9g.137236163C>GCA375740988SLC34A3c.1547C>G (p.Ala516Gly)
9g.137236163C>TCA375740987SLC34A3c.1547C>T (p.Ala516Val)
dbSNP gnomAD v3 gnomAD v4
9g.137236164T>ACA467942613SLC34A3c.1548T>A (p.Ala516=)
9g.137236164T>CCA467942615SLC34A3c.1548T>C (p.Ala516=)
gnomAD v4
9g.137236164T>GCA467942616SLC34A3c.1548T>G (p.Ala516=)
9g.137236165G>ACA375740989SLC34A3c.1549G>A (p.Val517Ile)
dbSNP gnomAD v4
9g.137236165G>CCA375740992SLC34A3c.1549G>C (p.Val517Leu)
9g.137236165G=CA1884372224SLC34A3c.1549G= (p.Val517=)
9g.137236165G>TCA375740995SLC34A3c.1549G>T (p.Val517Phe)
dbSNP gnomAD v2 gnomAD v4
9g.137236166T>ACA375740996SLC34A3c.1550T>A (p.Val517Asp)
9g.137236166T>CCA375740997SLC34A3c.1550T>C (p.Val517Ala)
9g.137236166T>GCA375740999SLC34A3c.1550T>G (p.Val517Gly)
9g.137236167C>ACA467942622SLC34A3c.1551C>A (p.Val517=)
gnomAD v4
9g.137236167C=CA1884372225SLC34A3c.1551C= (p.Val517=)
9g.137236167C>GCA467942624SLC34A3c.1551C>G (p.Val517=)
9g.137236167C>TCA5364992SLC34A3c.1551C>T (p.Val517=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.137236168G>ACA5364993SLC34A3c.1552G>A (p.Gly518Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137236168G>CCA375741007SLC34A3c.1552G>C (p.Gly518Arg)
9g.137236168G=CA1884372226SLC34A3c.1552G= (p.Gly518=)
9g.137236168G>TCA375741009SLC34A3c.1552G>T (p.Gly518Trp)
gnomAD v4
9g.137236172dupCA645509479SLC34A3c.1556dup (p.Pro520SerfsTer?)
ClinVar dbSNP gnomAD v4
9g.137236172delCA2580081048SLC34A3c.1556del (p.Gly519ValfsTer?)
ClinVar gnomAD v4
9g.137236169G>ACA375741010SLC34A3c.1553G>A (p.Gly518Glu)
9g.137236169G>CCA375741011SLC34A3c.1553G>C (p.Gly518Ala)
9g.137236169G>TCA375741012SLC34A3c.1553G>T (p.Gly518Val)
gnomAD v4
9g.137236170G>ACA467942630SLC34A3c.1554G>A (p.Gly518=)
9g.137236170G>CCA467942631SLC34A3c.1554G>C (p.Gly518=)
9g.137236170G>TCA467942632SLC34A3c.1554G>T (p.Gly518=)
gnomAD v4

Number of alleles fetched