Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552706A=CA1206146947F5c.1147T= (p.Phe383=)
c.736T= (p.Phe246=)
1g.169552706A>CCA343129128F5c.1147T>G (p.Phe383Val)
c.736T>G (p.Phe246Val)
1g.169552706A>GCA32388728F5c.1147T>C (p.Phe383Leu)
c.736T>C (p.Phe246Leu)
 dbSNP
1g.169552706A>TCA343129134F5c.1147T>A (p.Phe383Ile)
c.736T>A (p.Phe246Ile)
1g.169552707A>CCA343129139F5c.1146T>G (p.Asn382Lys)
c.735T>G (p.Asn245Lys)
1g.169552707A>GCA421732573F5c.1146T>C (p.Asn382=)
c.735T>C (p.Asn245=)
 gnomAD v4
1g.169552707A>TCA343129142F5c.1146T>A (p.Asn382Lys)
c.735T>A (p.Asn245Lys)
1g.169552708T>ACA343129146F5c.1145A>T (p.Asn382Ile)
c.734A>T (p.Asn245Ile)
1g.169552708T>CCA343129150F5c.1145A>G (p.Asn382Ser)
c.734A>G (p.Asn245Ser)
1g.169552708T>GCA343129152F5c.1145A>C (p.Asn382Thr)
c.734A>C (p.Asn245Thr)
1g.169552709T>ACA343129168F5c.1144A>T (p.Asn382Tyr)
c.733A>T (p.Asn245Tyr)
1g.169552709T>CCA343129162F5c.1144A>G (p.Asn382Asp)
c.733A>G (p.Asn245Asp)
1g.169552709T>GCA343129157F5c.1144A>C (p.Asn382His)
c.733A>C (p.Asn245His)
1g.169552710A=CA1148348567F5c.1143T= (p.Asp381=)
c.732T= (p.Asp244=)
1g.169552710A>CCA343129175F5c.1143T>G (p.Asp381Glu)
c.732T>G (p.Asp244Glu)
1g.169552710A>GCA421732574F5c.1143T>C (p.Asp381=)
c.732T>C (p.Asp244=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169552710A>TCA1234403F5c.1143T>A (p.Asp381Glu)
c.732T>A (p.Asp244Glu)
 dbSNP ExAC gnomAD v2
1g.169552711T>ACA343129184F5c.1142A>T (p.Asp381Val)
c.731A>T (p.Asp244Val)
1g.169552711T>CCA343129187F5c.1142A>G (p.Asp381Gly)
c.731A>G (p.Asp244Gly)
1g.169552711T>GCA343129189F5c.1142A>C (p.Asp381Ala)
c.731A>C (p.Asp244Ala)
1g.169552712C>ACA343129190F5c.1141G>T (p.Asp381Tyr)
c.730G>T (p.Asp244Tyr)
1g.169552712C=CA1206146953F5c.1141G= (p.Asp381=)
c.730G= (p.Asp244=)
1g.169552712C>GCA343129192F5c.1141G>C (p.Asp381His)
c.730G>C (p.Asp244His)
 dbSNP gnomAD v3 gnomAD v4
1g.169552712C>TCA343129196F5c.1141G>A (p.Asp381Asn)
c.730G>A (p.Asp244Asn)
 dbSNP
1g.169552713C>ACA343129200F5c.1140G>T (p.Leu380Phe)
c.729G>T (p.Leu243Phe)
1g.169552713C=CA1206146957F5c.1140G= (p.Leu380=)
c.729G= (p.Leu243=)
1g.169552713C>GCA1234404F5c.1140G>C (p.Leu380Phe)
c.729G>C (p.Leu243Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552713C>TCA32388732F5c.1140G>A (p.Leu380=)
c.729G>A (p.Leu243=)
 dbSNP
1g.169552714A>CCA343129211F5c.1139T>G (p.Leu380Trp)
c.728T>G (p.Leu243Trp)
 gnomAD v4
1g.169552714A>GCA343129205F5c.1139T>C (p.Leu380Ser)
c.728T>C (p.Leu243Ser)
1g.169552714A>TCA343129203F5c.1139T>A (p.Leu380Ter)
c.728T>A (p.Leu243Ter)
1g.169552715A>CCA343129214F5c.1138T>G (p.Leu380Val)
c.727T>G (p.Leu243Val)
1g.169552715A>GCA421732575F5c.1138T>C (p.Leu380=)
c.727T>C (p.Leu243=)
 gnomAD v4
1g.169552715A>TCA343129217F5c.1138T>A (p.Leu380Met)
c.727T>A (p.Leu243Met)
1g.169552716A=CA1206146962F5c.1137T= (p.His379=)
c.726T= (p.His242=)
1g.169552716A>CCA343129225F5c.1137T>G (p.His379Gln)
c.726T>G (p.His242Gln)
 dbSNP gnomAD v3 gnomAD v4
1g.169552716A>GCA1234405F5c.1137T>C (p.His379=)
c.726T>C (p.His242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552716A>TCA343129238F5c.1137T>A (p.His379Gln)
c.726T>A (p.His242Gln)
1g.169552717T>ACA343129243F5c.1136A>T (p.His379Leu)
c.725A>T (p.His242Leu)
1g.169552717T>CCA343129255F5c.1136A>G (p.His379Arg)
c.725A>G (p.His242Arg)
1g.169552717T>GCA343129262F5c.1136A>C (p.His379Pro)
c.725A>C (p.His242Pro)
1g.169552718G>ACA343129268F5c.1135C>T (p.His379Tyr)
c.724C>T (p.His242Tyr)
1g.169552718G>CCA343129282F5c.1135C>G (p.His379Asp)
c.724C>G (p.His242Asp)
1g.169552718G>TCA343129289F5c.1135C>A (p.His379Asn)
c.724C>A (p.His242Asn)
1g.169552719C>ACA343129293F5c.1134G>T (p.Gln378His)
c.723G>T (p.Gln241His)
1g.169552719C>GCA343129298F5c.1134G>C (p.Gln378His)
c.723G>C (p.Gln241His)
1g.169552719C>TCA421732576F5c.1134G>A (p.Gln378=)
c.723G>A (p.Gln241=)
1g.169552720T>ACA343129306F5c.1133A>T (p.Gln378Leu)
c.722A>T (p.Gln241Leu)
1g.169552720T>CCA343129317F5c.1133A>G (p.Gln378Arg)
c.722A>G (p.Gln241Arg)
1g.169552720T>GCA343129300F5c.1133A>C (p.Gln378Pro)
c.722A>C (p.Gln241Pro)

Number of alleles fetched