UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986445T>A | CA494920042 | HSD3B7 | c.345T>A (p.Ala115=) c.468T>A (p.Ala156=) | |
| 16 | g.30986445T>C | CA494920044 | HSD3B7 | c.345T>C (p.Ala115=) c.468T>C (p.Ala156=) | COSMIC |
| 16 | g.30986445T>G | CA494920043 | HSD3B7 | c.345T>G (p.Ala115=) c.468T>G (p.Ala156=) | |
| 16 | g.30986446T>A | CA395639882 | HSD3B7 | c.346T>A (p.Cys116Ser) c.469T>A (p.Cys157Ser) | |
| 16 | g.30986446T>C | CA280561857 | HSD3B7 | c.346T>C (p.Cys116Arg) c.469T>C (p.Cys157Arg) | dbSNP |
| 16 | g.30986446T>G | CA395639885 | HSD3B7 | c.346T>G (p.Cys116Gly) c.469T>G (p.Cys157Gly) | |
| 16 | g.30986446T= | CA2216821774 | HSD3B7 | c.346T= (p.Cys116=) c.469T= (p.Cys157=) | |
| 16 | g.30986447G>A | CA395639887 | HSD3B7 | c.347G>A (p.Cys116Tyr) c.470G>A (p.Cys157Tyr) | dbSNP |
| 16 | g.30986447G>C | CA395639889 | HSD3B7 | c.347G>C (p.Cys116Ser) c.470G>C (p.Cys157Ser) | |
| 16 | g.30986447G= | CA2216821781 | HSD3B7 | c.347G= (p.Cys116=) c.470G= (p.Cys157=) | |
| 16 | g.30986447G>T | CA395639891 | HSD3B7 | c.347G>T (p.Cys116Phe) c.470G>T (p.Cys157Phe) | dbSNP gnomAD v2 |
| 16 | g.30986448T>A | CA395639893 | HSD3B7 | c.348T>A (p.Cys116Ter) c.471T>A (p.Cys157Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986448T>C | CA494920046 | HSD3B7 | c.348T>C (p.Cys116=) c.471T>C (p.Cys157=) | gnomAD v4 |
| 16 | g.30986448T>G | CA395639895 | HSD3B7 | c.348T>G (p.Cys116Trp) c.471T>G (p.Cys157Trp) | |
| 16 | g.30986448T= | CA2216821786 | HSD3B7 | c.348T= (p.Cys116=) c.471T= (p.Cys157=) | |
| 16 | g.30986449G>A | CA395639902 | HSD3B7 | c.349G>A (p.Val117Met) c.472G>A (p.Val158Met) | |
| 16 | g.30986449G>C | CA395639900 | HSD3B7 | c.349G>C (p.Val117Leu) c.472G>C (p.Val158Leu) | |
| 16 | g.30986449G>T | CA395639898 | HSD3B7 | c.349G>T (p.Val117Leu) c.472G>T (p.Val158Leu) | |
| 16 | g.30986450T>A | CA395639904 | HSD3B7 | c.350T>A (p.Val117Glu) c.473T>A (p.Val158Glu) | |
| 16 | g.30986450T>C | CA395639905 | HSD3B7 | c.350T>C (p.Val117Ala) c.473T>C (p.Val158Ala) | |
| 16 | g.30986450T>G | CA395639907 | HSD3B7 | c.350T>G (p.Val117Gly) c.473T>G (p.Val158Gly) | |
| 16 | g.30986451G>A | CA8017974 | HSD3B7 | c.351G>A (p.Val117=) c.474G>A (p.Val158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986451G>C | CA494920050 | HSD3B7 | c.351G>C (p.Val117=) c.474G>C (p.Val158=) | |
| 16 | g.30986451G= | CA2216821791 | HSD3B7 | c.351G= (p.Val117=) c.474G= (p.Val158=) | |
| 16 | g.30986451G>T | CA494920052 | HSD3B7 | c.351G>T (p.Val117=) c.474G>T (p.Val158=) | gnomAD v4 |
| 16 | g.30986452C>A | CA395639909 | HSD3B7 | c.352C>A (p.Gln118Lys) c.475C>A (p.Gln159Lys) | |
| 16 | g.30986452C>G | CA395639911 | HSD3B7 | c.352C>G (p.Gln118Glu) c.475C>G (p.Gln159Glu) | |
| 16 | g.30986452C>T | CA395639913 | HSD3B7 | c.352C>T (p.Gln118Ter) c.475C>T (p.Gln159Ter) | |
| 16 | g.30986453A>C | CA395639914 | HSD3B7 | c.353A>C (p.Gln118Pro) c.476A>C (p.Gln159Pro) | |
| 16 | g.30986453A>G | CA395639916 | HSD3B7 | c.353A>G (p.Gln118Arg) c.476A>G (p.Gln159Arg) | |
| 16 | g.30986453A>T | CA395639917 | HSD3B7 | c.353A>T (p.Gln118Leu) c.476A>T (p.Gln159Leu) | |
| 16 | g.30986454G>A | CA494920055 | HSD3B7 | c.354G>A (p.Gln118=) c.477G>A (p.Gln159=) | dbSNP |
| 16 | g.30986454G>C | CA395639918 | HSD3B7 | c.354G>C (p.Gln118His) c.477G>C (p.Gln159His) | |
| 16 | g.30986454G= | CA2216821799 | HSD3B7 | c.354G= (p.Gln118=) c.477G= (p.Gln159=) | |
| 16 | g.30986454G>T | CA395639921 | HSD3B7 | c.354G>T (p.Gln118His) c.477G>T (p.Gln159His) | gnomAD v4 |
| 16 | g.30986455A>C | CA395639925 | HSD3B7 | c.355A>C (p.Thr119Pro) c.478A>C (p.Thr160Pro) | |
| 16 | g.30986455A>G | CA395639926 | HSD3B7 | c.355A>G (p.Thr119Ala) c.478A>G (p.Thr160Ala) | |
| 16 | g.30986455A>T | CA395639923 | HSD3B7 | c.355A>T (p.Thr119Ser) c.478A>T (p.Thr160Ser) | |
| 16 | g.30986456C>A | CA395639928 | HSD3B7 | c.356C>A (p.Thr119Asn) c.479C>A (p.Thr160Asn) | |
| 16 | g.30986456C>G | CA395639930 | HSD3B7 | c.356C>G (p.Thr119Ser) c.479C>G (p.Thr160Ser) | |
| 16 | g.30986456C>T | CA395639931 | HSD3B7 | c.356C>T (p.Thr119Ile) c.479C>T (p.Thr160Ile) | gnomAD v4 |
| 16 | g.30986457C>A | CA494920059 | HSD3B7 | c.357C>A (p.Thr119=) c.480C>A (p.Thr160=) | |
| 16 | g.30986457C= | CA2216821814 | HSD3B7 | c.357C= (p.Thr119=) c.480C= (p.Thr160=) | |
| 16 | g.30986457C>G | CA8017976 | HSD3B7 | c.357C>G (p.Thr119=) c.480C>G (p.Thr160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986457C>T | CA8017975 | HSD3B7 | c.357C>T (p.Thr119=) c.480C>T (p.Thr160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986458G>A | CA8017977 | HSD3B7 | c.358G>A (p.Gly120Arg) c.481G>A (p.Gly161Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986458G>C | CA395639939 | HSD3B7 | c.358G>C (p.Gly120Arg) c.481G>C (p.Gly161Arg) | |
| 16 | g.30986458G= | CA2216821828 | HSD3B7 | c.358G= (p.Gly120=) c.481G= (p.Gly161=) | |
| 16 | g.30986458G>T | CA395639938 | HSD3B7 | c.358G>T (p.Gly120Ter) c.481G>T (p.Gly161Ter) | |
| 16 | g.30986459G>A | CA395639943 | HSD3B7 | c.359G>A (p.Gly120Glu) c.482G>A (p.Gly161Glu) | gnomAD v4 COSMIC |
| 16 | g.30986459G>C | CA395639945 | HSD3B7 | c.359G>C (p.Gly120Ala) c.482G>C (p.Gly161Ala) | |
| 16 | g.30986459G>T | CA395639947 | HSD3B7 | c.359G>T (p.Gly120Val) c.482G>T (p.Gly161Val) | |
| 16 | g.30986460A>C | CA494920063 | HSD3B7 | c.360A>C (p.Gly120=) c.483A>C (p.Gly161=) | |
| 16 | g.30986460A>G | CA494920064 | HSD3B7 | c.360A>G (p.Gly120=) c.483A>G (p.Gly161=) | |
| 16 | g.30986460A>T | CA494920062 | HSD3B7 | c.360A>T (p.Gly120=) c.483A>T (p.Gly161=) | |
| 16 | g.30986461A>C | CA395639948 | HSD3B7 | c.361A>C (p.Thr121Pro) c.484A>C (p.Thr162Pro) | |
| 16 | g.30986461A>G | CA395639950 | HSD3B7 | c.361A>G (p.Thr121Ala) c.484A>G (p.Thr162Ala) | |
| 16 | g.30986461A>T | CA395639952 | HSD3B7 | c.361A>T (p.Thr121Ser) c.484A>T (p.Thr162Ser) | |
| 16 | g.30986462C>A | CA395639954 | HSD3B7 | c.362C>A (p.Thr121Lys) c.485C>A (p.Thr162Lys) | |
| 16 | g.30986462C>G | CA395639958 | HSD3B7 | c.362C>G (p.Thr121Arg) c.485C>G (p.Thr162Arg) | |
| 16 | g.30986462C>T | CA395639956 | HSD3B7 | c.362C>T (p.Thr121Ile) c.485C>T (p.Thr162Ile) | |
| 16 | g.30986463A>C | CA494920069 | HSD3B7 | c.363A>C (p.Thr121=) c.486A>C (p.Thr162=) | |
| 16 | g.30986463A>G | CA494920071 | HSD3B7 | c.363A>G (p.Thr121=) c.486A>G (p.Thr162=) | |
| 16 | g.30986463A>T | CA494920072 | HSD3B7 | c.363A>T (p.Thr121=) c.486A>T (p.Thr162=) | |
| 16 | g.30986464C>A | CA494920073 | HSD3B7 | c.364C>A (p.Arg122=) c.487C>A (p.Arg163=) | |
| 16 | g.30986464C= | CA2216821832 | HSD3B7 | c.364C= (p.Arg122=) c.487C= (p.Arg163=) | |
| 16 | g.30986464C>G | CA395639960 | HSD3B7 | c.364C>G (p.Arg122Gly) c.487C>G (p.Arg163Gly) | |
| 16 | g.30986464C>T | CA8017978 | HSD3B7 | c.364C>T (p.Arg122Trp) c.487C>T (p.Arg163Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986465G>A | CA8017979 | HSD3B7 | c.365G>A (p.Arg122Gln) c.488G>A (p.Arg163Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986465G>C | CA395639964 | HSD3B7 | c.365G>C (p.Arg122Pro) c.488G>C (p.Arg163Pro) | |
| 16 | g.30986465G= | CA2216821836 | HSD3B7 | c.365G= (p.Arg122=) c.488G= (p.Arg163=) | |
| 16 | g.30986465G>T | CA395639966 | HSD3B7 | c.365G>T (p.Arg122Leu) c.488G>T (p.Arg163Leu) | |
| 16 | g.30986466G>A | CA494920077 | HSD3B7 | c.366G>A (p.Arg122=) c.489G>A (p.Arg163=) | |
| 16 | g.30986466G>C | CA494920075 | HSD3B7 | c.366G>C (p.Arg122=) c.489G>C (p.Arg163=) | |
| 16 | g.30986466G= | CA2216821849 | HSD3B7 | c.366G= (p.Arg122=) c.489G= (p.Arg163=) | |
| 16 | g.30986466G>T | CA494920076 | HSD3B7 | c.366G>T (p.Arg122=) c.489G>T (p.Arg163=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986467T>A | CA395639968 | HSD3B7 | c.367T>A (p.Phe123Ile) c.490T>A (p.Phe164Ile) | |
| 16 | g.30986467T>C | CA8017980 | HSD3B7 | c.367T>C (p.Phe123Leu) c.490T>C (p.Phe164Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986467T>G | CA395639970 | HSD3B7 | c.367T>G (p.Phe123Val) c.490T>G (p.Phe164Val) | |
| 16 | g.30986467T= | CA2216821853 | HSD3B7 | c.367T= (p.Phe123=) c.490T= (p.Phe164=) | |
| 16 | g.30986468T>A | CA395639972 | HSD3B7 | c.368T>A (p.Phe123Tyr) c.491T>A (p.Phe164Tyr) | |
| 16 | g.30986468T>C | CA395639974 | HSD3B7 | c.368T>C (p.Phe123Ser) c.491T>C (p.Phe164Ser) | |
| 16 | g.30986468T>G | CA395639976 | HSD3B7 | c.368T>G (p.Phe123Cys) c.491T>G (p.Phe164Cys) | |
| 16 | g.30986469C>A | CA395639978 | HSD3B7 | c.369C>A (p.Phe123Leu) c.492C>A (p.Phe164Leu) | |
| 16 | g.30986469C= | CA2216821858 | HSD3B7 | c.369C= (p.Phe123=) c.492C= (p.Phe164=) | |
| 16 | g.30986469C>G | CA395639980 | HSD3B7 | c.369C>G (p.Phe123Leu) c.492C>G (p.Phe164Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986469C>T | CA494920081 | HSD3B7 | c.369C>T (p.Phe123=) c.492C>T (p.Phe164=) | |
| 16 | g.30986470C>A | CA395639982 | HSD3B7 | c.370C>A (p.Leu124Met) c.493C>A (p.Leu165Met) | COSMIC |
| 16 | g.30986470C>G | CA395639984 | HSD3B7 | c.370C>G (p.Leu124Val) c.493C>G (p.Leu165Val) | |
| 16 | g.30986470C>T | CA494920083 | HSD3B7 | c.370C>T (p.Leu124=) c.493C>T (p.Leu165=) | |
| 16 | g.30986471T>A | CA395639986 | HSD3B7 | c.371T>A (p.Leu124Gln) c.494T>A (p.Leu165Gln) | |
| 16 | g.30986471T>C | CA395639989 | HSD3B7 | c.371T>C (p.Leu124Pro) c.494T>C (p.Leu165Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986471T>G | CA395639988 | HSD3B7 | c.371T>G (p.Leu124Arg) c.494T>G (p.Leu165Arg) | |
| 16 | g.30986471T= | CA2216821865 | HSD3B7 | c.371T= (p.Leu124=) c.494T= (p.Leu165=) | |
| 16 | g.30986472G>A | CA494920087 | HSD3B7 | c.372G>A (p.Leu124=) c.495G>A (p.Leu165=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986472G>C | CA494920084 | HSD3B7 | c.372G>C (p.Leu124=) c.495G>C (p.Leu165=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986472G= | CA2216821874 | HSD3B7 | c.372G= (p.Leu124=) c.495G= (p.Leu165=) | |
| 16 | g.30986472G>T | CA494920086 | HSD3B7 | c.372G>T (p.Leu124=) c.495G>T (p.Leu165=) | |
| 16 | g.30986473del | CA2575973588 | HSD3B7 | c.373del (p.Val125SerfsTer?) c.496del (p.Val166SerfsTer?) | |
| 16 | g.30986473G>A | CA395639991 | HSD3B7 | c.373G>A (p.Val125Ile) c.496G>A (p.Val166Ile) | gnomAD v4 |
| 16 | g.30986473G>C | CA395639993 | HSD3B7 | c.373G>C (p.Val125Leu) c.496G>C (p.Val166Leu) | |
| 16 | g.30986473G>T | CA395639995 | HSD3B7 | c.373G>T (p.Val125Phe) c.496G>T (p.Val166Phe) | |
| 16 | g.30986474T>A | CA395639996 | HSD3B7 | c.374T>A (p.Val125Asp) c.497T>A (p.Val166Asp) | |
| 16 | g.30986474T>C | CA395639998 | HSD3B7 | c.374T>C (p.Val125Ala) c.497T>C (p.Val166Ala) | |
| 16 | g.30986474T>G | CA395640000 | HSD3B7 | c.374T>G (p.Val125Gly) c.497T>G (p.Val166Gly) | |
| 16 | g.30986475C>A | CA494920088 | HSD3B7 | c.375C>A (p.Val125=) c.498C>A (p.Val166=) | gnomAD v4 |
| 16 | g.30986475C= | CA2216821877 | HSD3B7 | c.375C= (p.Val125=) c.498C= (p.Val166=) | |
| 16 | g.30986475C>G | CA494920089 | HSD3B7 | c.375C>G (p.Val125=) c.498C>G (p.Val166=) | |
| 16 | g.30986475C>T | CA494920091 | HSD3B7 | c.375C>T (p.Val125=) c.498C>T (p.Val166=) | dbSNP gnomAD v4 |
| 16 | g.30986476T>A | CA395640002 | HSD3B7 | c.376T>A (p.Tyr126Asn) c.499T>A (p.Tyr167Asn) | |
| 16 | g.30986476T>C | CA395640004 | HSD3B7 | c.376T>C (p.Tyr126His) c.499T>C (p.Tyr167His) | |
| 16 | g.30986476T>G | CA395640006 | HSD3B7 | c.376T>G (p.Tyr126Asp) c.499T>G (p.Tyr167Asp) | |
| 16 | g.30986477A>C | CA395640008 | HSD3B7 | c.377A>C (p.Tyr126Ser) c.500A>C (p.Tyr167Ser) | |
| 16 | g.30986477A>G | CA395640009 | HSD3B7 | c.377A>G (p.Tyr126Cys) c.500A>G (p.Tyr167Cys) | |
| 16 | g.30986477A>T | CA395640011 | HSD3B7 | c.377A>T (p.Tyr126Phe) c.500A>T (p.Tyr167Phe) | |
| 16 | g.30986478C>A | CA395640015 | HSD3B7 | c.378C>A (p.Tyr126Ter) c.501C>A (p.Tyr167Ter) | |
| 16 | g.30986478C= | CA2216821881 | HSD3B7 | c.378C= (p.Tyr126=) c.501C= (p.Tyr167=) | |
| 16 | g.30986478C>G | CA395640013 | HSD3B7 | c.378C>G (p.Tyr126Ter) c.501C>G (p.Tyr167Ter) | |
| 16 | g.30986478C>T | CA494920094 | HSD3B7 | c.378C>T (p.Tyr126=) c.501C>T (p.Tyr167=) | dbSNP gnomAD v4 |
| 16 | g.30986479A>C | CA395640018 | HSD3B7 | c.379A>C (p.Thr127Pro) c.502A>C (p.Thr168Pro) | |
| 16 | g.30986479A>G | CA395640019 | HSD3B7 | c.379A>G (p.Thr127Ala) c.502A>G (p.Thr168Ala) | |
| 16 | g.30986479A>T | CA395640021 | HSD3B7 | c.379A>T (p.Thr127Ser) c.502A>T (p.Thr168Ser) | |
| 16 | g.30986480C>A | CA395640023 | HSD3B7 | c.380C>A (p.Thr127Asn) c.503C>A (p.Thr168Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986480C= | CA2216821887 | HSD3B7 | c.380C= (p.Thr127=) c.503C= (p.Thr168=) | |
| 16 | g.30986480C>G | CA395640024 | HSD3B7 | c.380C>G (p.Thr127Ser) c.503C>G (p.Thr168Ser) | gnomAD v4 |
| 16 | g.30986480C>T | CA395640026 | HSD3B7 | c.380C>T (p.Thr127Ile) c.503C>T (p.Thr168Ile) | |
| 16 | g.30986481C>A | CA494920097 | HSD3B7 | c.381C>A (p.Thr127=) c.504C>A (p.Thr168=) | |
| 16 | g.30986481C= | CA2216821891 | HSD3B7 | c.381C= (p.Thr127=) c.504C= (p.Thr168=) | |
| 16 | g.30986481C>G | CA494920098 | HSD3B7 | c.381C>G (p.Thr127=) c.504C>G (p.Thr168=) | gnomAD v4 |
| 16 | g.30986481C>T | CA280561909 | HSD3B7 | c.381C>T (p.Thr127=) c.504C>T (p.Thr168=) | dbSNP |
| 16 | g.30986482A= | CA2216821897 | HSD3B7 | c.382A= (p.Ser128=) c.505A= (p.Ser169=) | |
| 16 | g.30986482A>C | CA395640032 | HSD3B7 | c.382A>C (p.Ser128Arg) c.505A>C (p.Ser169Arg) | |
| 16 | g.30986482A>G | CA395640028 | HSD3B7 | c.382A>G (p.Ser128Gly) c.505A>G (p.Ser169Gly) | dbSNP |
| 16 | g.30986482A>T | CA395640030 | HSD3B7 | c.382A>T (p.Ser128Cys) c.505A>T (p.Ser169Cys) | |
| 16 | g.30986483G>A | CA8017981 | HSD3B7 | c.383G>A (p.Ser128Asn) c.506G>A (p.Ser169Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986483G>C | CA395640034 | HSD3B7 | c.383G>C (p.Ser128Thr) c.506G>C (p.Ser169Thr) | |
| 16 | g.30986483G= | CA2216821907 | HSD3B7 | c.383G= (p.Ser128=) c.506G= (p.Ser169=) | |
| 16 | g.30986483G>T | CA395640036 | HSD3B7 | c.383G>T (p.Ser128Ile) c.506G>T (p.Ser169Ile) | |
| 16 | g.30986484C>A | CA395640037 | HSD3B7 | c.384C>A (p.Ser128Arg) c.507C>A (p.Ser169Arg) | |
| 16 | g.30986484C>G | CA395640038 | HSD3B7 | c.384C>G (p.Ser128Arg) c.507C>G (p.Ser169Arg) | |
| 16 | g.30986484C>T | CA494920104 | HSD3B7 | c.384C>T (p.Ser128=) c.507C>T (p.Ser169=) | |
| 16 | g.30986485A= | CA2216821913 | HSD3B7 | c.385A= (p.Ser129=) c.508A= (p.Ser170=) | |
| 16 | g.30986485A>C | CA395640041 | HSD3B7 | c.385A>C (p.Ser129Arg) c.508A>C (p.Ser170Arg) | |
| 16 | g.30986485A>G | CA16607411 | HSD3B7 | c.385A>G (p.Ser129Gly) c.508A>G (p.Ser170Gly) | ClinVar dbSNP |
| 16 | g.30986485A>T | CA395640042 | HSD3B7 | c.385A>T (p.Ser129Cys) c.508A>T (p.Ser170Cys) | |
| 16 | g.30986486G>A | CA395640046 | HSD3B7 | c.386G>A (p.Ser129Asn) c.509G>A (p.Ser170Asn) | |
| 16 | g.30986486G>C | CA395640048 | HSD3B7 | c.386G>C (p.Ser129Thr) c.509G>C (p.Ser170Thr) | gnomAD v4 |
| 16 | g.30986486G>T | CA395640050 | HSD3B7 | c.386G>T (p.Ser129Ile) c.509G>T (p.Ser170Ile) | |
| 16 | g.30986487C>A | CA395640052 | HSD3B7 | c.387C>A (p.Ser129Arg) c.510C>A (p.Ser170Arg) | |
| 16 | g.30986487C= | CA2216821924 | HSD3B7 | c.387C= (p.Ser129=) c.510C= (p.Ser170=) | |
| 16 | g.30986487C>G | CA395640054 | HSD3B7 | c.387C>G (p.Ser129Arg) c.510C>G (p.Ser170Arg) | |
| 16 | g.30986487C>T | CA494920106 | HSD3B7 | c.387C>T (p.Ser129=) c.510C>T (p.Ser170=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986488A= | CA2216821932 | HSD3B7 | c.388A= (p.Met130=) c.511A= (p.Met171=) | |
| 16 | g.30986488A>C | CA395640060 | HSD3B7 | c.388A>C (p.Met130Leu) c.511A>C (p.Met171Leu) | |
| 16 | g.30986488A>G | CA395640058 | HSD3B7 | c.388A>G (p.Met130Val) c.511A>G (p.Met171Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.30986488A>T | CA395640056 | HSD3B7 | c.388A>T (p.Met130Leu) c.511A>T (p.Met171Leu) | |
| 16 | g.30986489T>A | CA395640062 | HSD3B7 | c.389T>A (p.Met130Lys) c.512T>A (p.Met171Lys) | |
| 16 | g.30986489T>C | CA395640064 | HSD3B7 | c.389T>C (p.Met130Thr) c.512T>C (p.Met171Thr) | |
| 16 | g.30986489T>G | CA395640066 | HSD3B7 | c.389T>G (p.Met130Arg) c.512T>G (p.Met171Arg) | |
| 16 | g.30986490G>A | CA395640068 | HSD3B7 | c.390G>A (p.Met130Ile) c.513G>A (p.Met171Ile) | |
| 16 | g.30986490G>C | CA395640070 | HSD3B7 | c.390G>C (p.Met130Ile) c.513G>C (p.Met171Ile) | dbSNP gnomAD v4 |
| 16 | g.30986490G= | CA2216821935 | HSD3B7 | c.390G= (p.Met130=) c.513G= (p.Met171=) | |
| 16 | g.30986490G>T | CA395640072 | HSD3B7 | c.390G>T (p.Met130Ile) c.513G>T (p.Met171Ile) | |
| 16 | g.30986491G>A | CA395640075 | HSD3B7 | c.391G>A (p.Glu131Lys) c.514G>A (p.Glu172Lys) | gnomAD v4 |
| 16 | g.30986491G>C | CA395640079 | HSD3B7 | c.391G>C (p.Glu131Gln) c.514G>C (p.Glu172Gln) | |
| 16 | g.30986491G>T | CA395640077 | HSD3B7 | c.391G>T (p.Glu131Ter) c.514G>T (p.Glu172Ter) | |
| 16 | g.30986492A>C | CA395640279 | HSD3B7 | c.392A>C (p.Glu131Ala) c.515A>C (p.Glu172Ala) | |
| 16 | g.30986492A>G | CA395640280 | HSD3B7 | c.392A>G (p.Glu131Gly) c.515A>G (p.Glu172Gly) | |
| 16 | g.30986492A>T | CA395640281 | HSD3B7 | c.392A>T (p.Glu131Val) c.515A>T (p.Glu172Val) | |
| 16 | g.30986493A>C | CA395640282 | HSD3B7 | c.393A>C (p.Glu131Asp) c.516A>C (p.Glu172Asp) | |
| 16 | g.30986493A>G | CA494920594 | HSD3B7 | c.393A>G (p.Glu131=) c.516A>G (p.Glu172=) | |
| 16 | g.30986493A>T | CA395640283 | HSD3B7 | c.393A>T (p.Glu131Asp) c.516A>T (p.Glu172Asp) | |
| 16 | g.30986494G>A | CA395640284 | HSD3B7 | c.394G>A (p.Val132Ile) c.517G>A (p.Val173Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986494G>C | CA395640285 | HSD3B7 | c.394G>C (p.Val132Leu) c.517G>C (p.Val173Leu) | |
| 16 | g.30986494G= | CA2216821940 | HSD3B7 | c.394G= (p.Val132=) c.517G= (p.Val173=) | |
| 16 | g.30986494G>T | CA395640286 | HSD3B7 | c.394G>T (p.Val132Phe) c.517G>T (p.Val173Phe) | |
| 16 | g.30986495T>A | CA395640287 | HSD3B7 | c.395T>A (p.Val132Asp) c.518T>A (p.Val173Asp) | |
| 16 | g.30986495T>C | CA395640288 | HSD3B7 | c.395T>C (p.Val132Ala) c.518T>C (p.Val173Ala) | |
| 16 | g.30986495T>G | CA395640289 | HSD3B7 | c.395T>G (p.Val132Gly) c.518T>G (p.Val173Gly) | |
| 16 | g.30986496T>A | CA494920600 | HSD3B7 | c.396T>A (p.Val132=) c.519T>A (p.Val173=) | |
| 16 | g.30986496T>C | CA494920601 | HSD3B7 | c.396T>C (p.Val132=) c.519T>C (p.Val173=) | |
| 16 | g.30986496T>G | CA494920603 | HSD3B7 | c.396T>G (p.Val132=) c.519T>G (p.Val173=) | |
| 16 | g.30986497G>A | CA395640290 | HSD3B7 | c.397G>A (p.Val133Met) c.520G>A (p.Val174Met) | ClinVar gnomAD v4 |
| 16 | g.30986497G>C | CA395640291 | HSD3B7 | c.397G>C (p.Val133Leu) c.520G>C (p.Val174Leu) | |
| 16 | g.30986497G= | CA2216821945 | HSD3B7 | c.397G= (p.Val133=) c.520G= (p.Val174=) | |
| 16 | g.30986497G>T | CA8017982 | HSD3B7 | c.397G>T (p.Val133Leu) c.520G>T (p.Val174Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986498T>A | CA395640292 | HSD3B7 | c.398T>A (p.Val133Glu) c.521T>A (p.Val174Glu) | |
| 16 | g.30986498T>C | CA395640294 | HSD3B7 | c.398T>C (p.Val133Ala) c.521T>C (p.Val174Ala) | |
| 16 | g.30986498T>G | CA395640293 | HSD3B7 | c.398T>G (p.Val133Gly) c.521T>G (p.Val174Gly) | |
| 16 | g.30986499G>A | CA494920608 | HSD3B7 | c.399G>A (p.Val133=) c.522G>A (p.Val174=) | |
| 16 | g.30986499G>C | CA494920609 | HSD3B7 | c.399G>C (p.Val133=) c.522G>C (p.Val174=) | |
| 16 | g.30986499G>T | CA494920610 | HSD3B7 | c.399G>T (p.Val133=) c.522G>T (p.Val174=) | |
| 16 | g.30986502dup | CA2695223277 | HSD3B7 | c.402dup (p.Pro135AlafsTer2) c.525dup (p.Pro176AlafsTer2) | |
| 16 | g.30986500G>A | CA280561913 | HSD3B7 | c.400G>A (p.Gly134Arg) c.523G>A (p.Gly175Arg) | dbSNP gnomAD v4 |
| 16 | g.30986500G>C | CA395640295 | HSD3B7 | c.400G>C (p.Gly134Arg) c.523G>C (p.Gly175Arg) | |
| 16 | g.30986500G= | CA2216821953 | HSD3B7 | c.400G= (p.Gly134=) c.523G= (p.Gly175=) | |
| 16 | g.30986500G>T | CA395640296 | HSD3B7 | c.400G>T (p.Gly134Trp) c.523G>T (p.Gly175Trp) | |
| 16 | g.30986501G>A | CA395640297 | HSD3B7 | c.401G>A (p.Gly134Glu) c.524G>A (p.Gly175Glu) | |
| 16 | g.30986501G>C | CA395640298 | HSD3B7 | c.401G>C (p.Gly134Ala) c.524G>C (p.Gly175Ala) | |
| 16 | g.30986501G>T | CA395640299 | HSD3B7 | c.401G>T (p.Gly134Val) c.524G>T (p.Gly175Val) | |
| 16 | g.30986502G>A | CA494920612 | HSD3B7 | c.402G>A (p.Gly134=) c.525G>A (p.Gly175=) | |
| 16 | g.30986502G>C | CA494920613 | HSD3B7 | c.402G>C (p.Gly134=) c.525G>C (p.Gly175=) | |
| 16 | g.30986502G>T | CA494920614 | HSD3B7 | c.402G>T (p.Gly134=) c.525G>T (p.Gly175=) | |
| 16 | g.30986503C>A | CA395640300 | HSD3B7 | c.403C>A (p.Pro135Thr) c.526C>A (p.Pro176Thr) | |
| 16 | g.30986503C>G | CA395640301 | HSD3B7 | c.403C>G (p.Pro135Ala) c.526C>G (p.Pro176Ala) | |
| 16 | g.30986503C>T | CA395640302 | HSD3B7 | c.403C>T (p.Pro135Ser) c.526C>T (p.Pro176Ser) | |
| 16 | g.30986504C>A | CA395640303 | HSD3B7 | c.404C>A (p.Pro135His) c.527C>A (p.Pro176His) | |
| 16 | g.30986504C>G | CA395640304 | HSD3B7 | c.404C>G (p.Pro135Arg) c.527C>G (p.Pro176Arg) | |
| 16 | g.30986504C>T | CA395640305 | HSD3B7 | c.404C>T (p.Pro135Leu) c.527C>T (p.Pro176Leu) | |
| 16 | g.30986505T>A | CA494920618 | HSD3B7 | c.405T>A (p.Pro135=) c.528T>A (p.Pro176=) | |
| 16 | g.30986505T>C | CA494920620 | HSD3B7 | c.405T>C (p.Pro135=) c.528T>C (p.Pro176=) | |
| 16 | g.30986505T>G | CA494920619 | HSD3B7 | c.405T>G (p.Pro135=) c.528T>G (p.Pro176=) | |
| 16 | g.30986506A>C | CA395640308 | HSD3B7 | c.406A>C (p.Asn136His) c.529A>C (p.Asn177His) | |
| 16 | g.30986506A>G | CA395640306 | HSD3B7 | c.406A>G (p.Asn136Asp) c.529A>G (p.Asn177Asp) | |
| 16 | g.30986506A>T | CA395640307 | HSD3B7 | c.406A>T (p.Asn136Tyr) c.529A>T (p.Asn177Tyr) | |
| 16 | g.30986507A= | CA2216821958 | HSD3B7 | c.407A= (p.Asn136=) c.530A= (p.Asn177=) | |
| 16 | g.30986507A>C | CA395640309 | HSD3B7 | c.407A>C (p.Asn136Thr) c.530A>C (p.Asn177Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986507A>G | CA395640310 | HSD3B7 | c.407A>G (p.Asn136Ser) c.530A>G (p.Asn177Ser) | |
| 16 | g.30986507A>T | CA395640311 | HSD3B7 | c.407A>T (p.Asn136Ile) c.530A>T (p.Asn177Ile) | |
| 16 | g.30986508C>A | CA395640312 | HSD3B7 | c.408C>A (p.Asn136Lys) c.531C>A (p.Asn177Lys) | |
| 16 | g.30986508C= | CA2216821963 | HSD3B7 | c.408C= (p.Asn136=) c.531C= (p.Asn177=) | |
| 16 | g.30986508C>G | CA395640313 | HSD3B7 | c.408C>G (p.Asn136Lys) c.531C>G (p.Asn177Lys) | |
| 16 | g.30986508C>T | CA494920625 | HSD3B7 | c.408C>T (p.Asn136=) c.531C>T (p.Asn177=) | dbSNP |
| 16 | g.30986509A>C | CA395640314 | HSD3B7 | c.409A>C (p.Thr137Pro) c.532A>C (p.Thr178Pro) | |
| 16 | g.30986509A>G | CA395640315 | HSD3B7 | c.409A>G (p.Thr137Ala) c.532A>G (p.Thr178Ala) | |
| 16 | g.30986509A>T | CA395640316 | HSD3B7 | c.409A>T (p.Thr137Ser) c.532A>T (p.Thr178Ser) | |
| 16 | g.30986510C>A | CA395640317 | HSD3B7 | c.410C>A (p.Thr137Asn) c.533C>A (p.Thr178Asn) | |
| 16 | g.30986510C= | CA2216821968 | HSD3B7 | c.410C= (p.Thr137=) c.533C= (p.Thr178=) | |
| 16 | g.30986510C>G | CA395640318 | HSD3B7 | c.410C>G (p.Thr137Ser) c.533C>G (p.Thr178Ser) | |
| 16 | g.30986510C>T | CA8017983 | HSD3B7 | c.410C>T (p.Thr137Ile) c.533C>T (p.Thr178Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986511C>A | CA494920627 | HSD3B7 | c.411C>A (p.Thr137=) c.534C>A (p.Thr178=) | gnomAD v4 |
| 16 | g.30986511C= | CA2216821974 | HSD3B7 | c.411C= (p.Thr137=) c.534C= (p.Thr178=) | |
| 16 | g.30986511C>G | CA494920628 | HSD3B7 | c.411C>G (p.Thr137=) c.534C>G (p.Thr178=) | gnomAD v4 |
| 16 | g.30986511C>T | CA494920629 | HSD3B7 | c.411C>T (p.Thr137=) c.534C>T (p.Thr178=) | |
| 16 | g.30986512A>C | CA395640321 | HSD3B7 | c.412A>C (p.Lys138Gln) c.535A>C (p.Lys179Gln) | |
| 16 | g.30986512A>G | CA395640320 | HSD3B7 | c.412A>G (p.Lys138Glu) c.535A>G (p.Lys179Glu) | |
| 16 | g.30986512A>T | CA395640319 | HSD3B7 | c.412A>T (p.Lys138Ter) c.535A>T (p.Lys179Ter) | |
| 16 | g.30986512_30986513insCCTTCTA | CA719897694 | HSD3B7 | c.412_413insCCTTCTA (p.Lys138ThrfsTer3) c.535_536insCCTTCTA (p.Lys179ThrfsTer3) | dbSNP |
| 16 | g.30986514del | CA2575973590 | HSD3B7 | c.414del (p.Gly139ValfsTer?) c.537del (p.Gly180ValfsTer?) | |
| 16 | g.30986513A= | CA2216821981 | HSD3B7 | c.413A= (p.Lys138=) c.536A= (p.Lys179=) | |
| 16 | g.30986513A>C | CA395640322 | HSD3B7 | c.413A>C (p.Lys138Thr) c.536A>C (p.Lys179Thr) | dbSNP |
| 16 | g.30986513A>G | CA395640323 | HSD3B7 | c.413A>G (p.Lys138Arg) c.536A>G (p.Lys179Arg) | |
| 16 | g.30986513A>T | CA395640325 | HSD3B7 | c.413A>T (p.Lys138Ile) c.536A>T (p.Lys179Ile) | |
| 16 | g.30986514A>C | CA395640327 | HSD3B7 | c.414A>C (p.Lys138Asn) c.537A>C (p.Lys179Asn) | |
| 16 | g.30986514A>G | CA494920633 | HSD3B7 | c.414A>G (p.Lys138=) c.537A>G (p.Lys179=) | |
| 16 | g.30986514A>T | CA395640328 | HSD3B7 | c.414A>T (p.Lys138Asn) c.537A>T (p.Lys179Asn) | |
| 16 | g.30986515G>A | CA8017984 | HSD3B7 | c.415G>A (p.Gly139Ser) c.538G>A (p.Gly180Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986515G>C | CA395640330 | HSD3B7 | c.415G>C (p.Gly139Arg) c.538G>C (p.Gly180Arg) | |
| 16 | g.30986515G= | CA2216821985 | HSD3B7 | c.415G= (p.Gly139=) c.538G= (p.Gly180=) | |
| 16 | g.30986515G>T | CA395640332 | HSD3B7 | c.415G>T (p.Gly139Cys) c.538G>T (p.Gly180Cys) | |
| 16 | g.30986516G>A | CA395640334 | HSD3B7 | c.416G>A (p.Gly139Asp) c.539G>A (p.Gly180Asp) | |
| 16 | g.30986516G>C | CA395640335 | HSD3B7 | c.416G>C (p.Gly139Ala) c.539G>C (p.Gly180Ala) | |
| 16 | g.30986516G>T | CA395640336 | HSD3B7 | c.416G>T (p.Gly139Val) c.539G>T (p.Gly180Val) | |
| 16 | g.30986517T>A | CA494920637 | HSD3B7 | c.417T>A (p.Gly139=) c.540T>A (p.Gly180=) | |
| 16 | g.30986517T>C | CA494920638 | HSD3B7 | c.417T>C (p.Gly139=) c.540T>C (p.Gly180=) | gnomAD v4 |
| 16 | g.30986517T>G | CA8017985 | HSD3B7 | c.417T>G (p.Gly139=) c.540T>G (p.Gly180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986517T= | CA2216821995 | HSD3B7 | c.417T= (p.Gly139=) c.540T= (p.Gly180=) | |
| 16 | g.30986518C>A | CA395640342 | HSD3B7 | c.418C>A (p.His140Asn) c.541C>A (p.His181Asn) | |
| 16 | g.30986518C>G | CA395640340 | HSD3B7 | c.418C>G (p.His140Asp) c.541C>G (p.His181Asp) | |
| 16 | g.30986518C>T | CA395640338 | HSD3B7 | c.418C>T (p.His140Tyr) c.541C>T (p.His181Tyr) | |
| 16 | g.30986519A= | CA2216821999 | HSD3B7 | c.419A= (p.His140=) c.542A= (p.His181=) | |
| 16 | g.30986519A>C | CA395640343 | HSD3B7 | c.419A>C (p.His140Pro) c.542A>C (p.His181Pro) | |
| 16 | g.30986519A>G | CA395640345 | HSD3B7 | c.419A>G (p.His140Arg) c.542A>G (p.His181Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30986519A>T | CA395640347 | HSD3B7 | c.419A>T (p.His140Leu) c.542A>T (p.His181Leu) | |
| 16 | g.30986520C>A | CA395640349 | HSD3B7 | c.420C>A (p.His140Gln) c.543C>A (p.His181Gln) | |
| 16 | g.30986520C= | CA2216822003 | HSD3B7 | c.420C= (p.His140=) c.543C= (p.His181=) | |
| 16 | g.30986520C>G | CA395640350 | HSD3B7 | c.420C>G (p.His140Gln) c.543C>G (p.His181Gln) | |
| 16 | g.30986520C>T | CA494920641 | HSD3B7 | c.420C>T (p.His140=) c.543C>T (p.His181=) | dbSNP gnomAD v4 |
| 16 | g.30986521C>A | CA395640351 | HSD3B7 | c.421C>A (p.Pro141Thr) c.544C>A (p.Pro182Thr) | |
| 16 | g.30986521C>G | CA395640352 | HSD3B7 | c.421C>G (p.Pro141Ala) c.544C>G (p.Pro182Ala) | |
| 16 | g.30986521C>T | CA395640354 | HSD3B7 | c.421C>T (p.Pro141Ser) c.544C>T (p.Pro182Ser) | gnomAD v4 COSMIC |
| 16 | g.30986522C>A | CA395640356 | HSD3B7 | c.422C>A (p.Pro141His) c.545C>A (p.Pro182His) | |
| 16 | g.30986522C>G | CA395640358 | HSD3B7 | c.422C>G (p.Pro141Arg) c.545C>G (p.Pro182Arg) | |
| 16 | g.30986522C>T | CA395640359 | HSD3B7 | c.422C>T (p.Pro141Leu) c.545C>T (p.Pro182Leu) | |
| 16 | g.30986523C>A | CA8017986 | HSD3B7 | c.423C>A (p.Pro141=) c.546C>A (p.Pro182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986523C= | CA2216822009 | HSD3B7 | c.423C= (p.Pro141=) c.546C= (p.Pro182=) | |
| 16 | g.30986523C>G | CA494920643 | HSD3B7 | c.423C>G (p.Pro141=) c.546C>G (p.Pro182=) | |
| 16 | g.30986523C>T | CA494920645 | HSD3B7 | c.423C>T (p.Pro141=) c.546C>T (p.Pro182=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986524T>A | CA395640362 | HSD3B7 | c.424T>A (p.Phe142Ile) c.547T>A (p.Phe183Ile) | |
| 16 | g.30986524T>C | CA395640364 | HSD3B7 | c.424T>C (p.Phe142Leu) c.547T>C (p.Phe183Leu) | |
| 16 | g.30986524T>G | CA395640363 | HSD3B7 | c.424T>G (p.Phe142Val) c.547T>G (p.Phe183Val) | |
| 16 | g.30986525T>A | CA395640366 | HSD3B7 | c.425T>A (p.Phe142Tyr) c.548T>A (p.Phe183Tyr) | |
| 16 | g.30986525T>C | CA395640369 | HSD3B7 | c.425T>C (p.Phe142Ser) c.548T>C (p.Phe183Ser) | |
| 16 | g.30986525T>G | CA395640368 | HSD3B7 | c.425T>G (p.Phe142Cys) c.548T>G (p.Phe183Cys) | |
| 16 | g.30986526C>A | CA395640371 | HSD3B7 | c.426C>A (p.Phe142Leu) c.549C>A (p.Phe183Leu) | |
| 16 | g.30986526C= | CA2216822018 | HSD3B7 | c.426C= (p.Phe142=) c.549C= (p.Phe183=) | |
| 16 | g.30986526C>G | CA395640374 | HSD3B7 | c.426C>G (p.Phe142Leu) c.549C>G (p.Phe183Leu) | |
| 16 | g.30986526C>T | CA280561940 | HSD3B7 | c.426C>T (p.Phe142=) c.549C>T (p.Phe183=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30986527T>A | CA395640376 | HSD3B7 | c.427T>A (p.Tyr143Asn) c.550T>A (p.Tyr184Asn) | |
| 16 | g.30986527T>C | CA395640379 | HSD3B7 | c.427T>C (p.Tyr143His) c.550T>C (p.Tyr184His) | |
| 16 | g.30986527T>G | CA395640378 | HSD3B7 | c.427T>G (p.Tyr143Asp) c.550T>G (p.Tyr184Asp) | |
| 16 | g.30986528A>C | CA395640381 | HSD3B7 | c.428A>C (p.Tyr143Ser) c.551A>C (p.Tyr184Ser) | |
| 16 | g.30986528A>G | CA395640383 | HSD3B7 | c.428A>G (p.Tyr143Cys) c.551A>G (p.Tyr184Cys) | gnomAD v4 |
| 16 | g.30986528A>T | CA395640385 | HSD3B7 | c.428A>T (p.Tyr143Phe) c.551A>T (p.Tyr184Phe) | |
| 16 | g.30986529C>A | CA395640386 | HSD3B7 | c.429C>A (p.Tyr143Ter) c.552C>A (p.Tyr184Ter) | |
| 16 | g.30986529C= | CA2216822024 | HSD3B7 | c.429C= (p.Tyr143=) c.552C= (p.Tyr184=) | |
| 16 | g.30986529C>G | CA395640388 | HSD3B7 | c.429C>G (p.Tyr143Ter) c.552C>G (p.Tyr184Ter) | |
| 16 | g.30986529C>T | CA494920649 | HSD3B7 | c.429C>T (p.Tyr143=) c.552C>T (p.Tyr184=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986530A>C | CA494920651 | HSD3B7 | c.430A>C (p.Arg144=) c.553A>C (p.Arg185=) | |
| 16 | g.30986530A>G | CA395640390 | HSD3B7 | c.430A>G (p.Arg144Gly) c.553A>G (p.Arg185Gly) | gnomAD v4 |
| 16 | g.30986530A>T | CA395640392 | HSD3B7 | c.430A>T (p.Arg144Trp) c.553A>T (p.Arg185Trp) | |
| 16 | g.30986531G>A | CA395640394 | HSD3B7 | c.431G>A (p.Arg144Lys) c.554G>A (p.Arg185Lys) | |
| 16 | g.30986531G>C | CA395640396 | HSD3B7 | c.431G>C (p.Arg144Thr) c.554G>C (p.Arg185Thr) | gnomAD v4 |
| 16 | g.30986531G>T | CA395640397 | HSD3B7 | c.431G>T (p.Arg144Met) c.554G>T (p.Arg185Met) | |
| 16 | g.30986532G>A | CA395640403 | HSD3B7 | c.431+1G>A (n.431+1G>A) c.554+1G>A (n.554+1G>A) | gnomAD v4 |
| 16 | g.30986532G>C | CA395640401 | HSD3B7 | c.431+1G>C (n.431+1G>C) c.554+1G>C (n.554+1G>C) | |
| 16 | g.30986532G>T | CA395640399 | HSD3B7 | c.431+1G>T (n.431+1G>T) c.554+1G>T (n.554+1G>T) | |
| 16 | g.30986533T>A | CA395640404 | HSD3B7 | c.431+2T>A (n.431+2T>A) c.554+2T>A (n.554+2T>A) | |
| 16 | g.30986533T>C | CA395640406 | HSD3B7 | c.431+2T>C (n.431+2T>C) c.554+2T>C (n.554+2T>C) | ClinVar |
| 16 | g.30986533T>G | CA395640408 | HSD3B7 | c.431+2T>G (n.431+2T>G) c.554+2T>G (n.554+2T>G) | |
| 16 | g.30986533dup | CA2695223278 | HSD3B7 | c.431+2dup (n.431+2dup) c.554+2dup (n.554+2dup) | |
| 16 | g.30986534G>A | CA280561943 | HSD3B7 | c.431+3G>A (n.431+3G>A) c.554+3G>A (n.554+3G>A) | dbSNP |
| 16 | g.30986534G= | CA2216822029 | HSD3B7 | c.431+3G= (n.431+3G=) c.554+3G= (n.554+3G=) | |
| 16 | g.30986535_30986536del | CA2575973591 | HSD3B7 | c.431+4_431+5del (n.431+4_431+5del) c.554+4_554+5del (n.554+4_554+5del) | |
| 16 | g.30986535A= | CA2216822036 | HSD3B7 | c.431+4A= (n.431+4A=) c.554+4A= (n.554+4A=) | |
| 16 | g.30986535A>G | CA622171154 | HSD3B7 | c.431+4A>G (n.431+4A>G) c.554+4A>G (n.554+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986535A>T | CA2632803631 | HSD3B7 | c.431+4A>T (n.431+4A>T) c.554+4A>T (n.554+4A>T) | gnomAD v4 |
| 16 | g.30986536G>A | CA622171155 | HSD3B7 | c.431+5G>A (n.431+5G>A) c.554+5G>A (n.554+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986536G= | CA2216822039 | HSD3B7 | c.431+5G= (n.431+5G=) c.554+5G= (n.554+5G=) | |
| 16 | g.30986537T>C | CA2216822042 | HSD3B7 | c.431+6T>C (n.431+6T>C) c.554+6T>C (n.554+6T>C) | dbSNP |
| 16 | g.30986537T= | CA2216822041 | HSD3B7 | c.431+6T= (n.431+6T=) c.554+6T= (n.554+6T=) | |
| 16 | g.30986538G>A | CA2632803634 | HSD3B7 | c.431+7G>A (n.431+7G>A) c.554+7G>A (n.554+7G>A) | gnomAD v4 |
| 16 | g.30986538G= | CA2216822044 | HSD3B7 | c.431+7G= (n.431+7G=) c.554+7G= (n.554+7G=) | |
| 16 | g.30986538_30986539insA | CA622171156 | HSD3B7 | c.431+7_431+8insA (n.431+7_431+8insA) c.554+7_554+8insA (n.554+7_554+8insA) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986543G>A | CA622171157 | HSD3B7 | c.431+12G>A (n.431+12G>A) c.554+12G>A (n.554+12G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986543G= | CA2216822056 | HSD3B7 | c.431+12G= (n.431+12G=) c.554+12G= (n.554+12G=) | |
| 16 | g.30986543G>T | CA2632803640 | HSD3B7 | c.431+12G>T (n.431+12G>T) c.554+12G>T (n.554+12G>T) | gnomAD v4 |
| 16 | g.30986544C= | CA2216822062 | HSD3B7 | c.431+13C= (n.431+13C=) c.554+13C= (n.554+13C=) | |
| 16 | g.30986544C>G | CA622171158 | HSD3B7 | c.431+13C>G (n.431+13C>G) c.554+13C>G (n.554+13C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30986544C>T | CA622171159 | HSD3B7 | c.431+13C>T (n.431+13C>T) c.554+13C>T (n.554+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30986545C>A | CA8017987 | HSD3B7 | c.431+14C>A (n.431+14C>A) c.554+14C>A (n.554+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30986545C= | CA2216822064 | HSD3B7 | c.431+14C= (n.431+14C=) c.554+14C= (n.554+14C=) | |
| 16 | g.30986545C>T | CA2216822067 | HSD3B7 | c.431+14C>T (n.431+14C>T) c.554+14C>T (n.554+14C>T) | dbSNP gnomAD v4 |