Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119421844_119422250del | CA2580060913 | HSD3B2 | c.343_749del (p.Val116IlefsTer7) | ClinVar |
1 | g.119421913C>A | CA341396314 | HSD3B2 | c.412C>A (p.Gln138Lys) n.356C>A | |
1 | g.119421913C>G | CA341396316 | HSD3B2 | c.412C>G (p.Gln138Glu) n.356C>G | |
1 | g.119421913C>T | CA341396315 | HSD3B2 | c.412C>T (p.Gln138Ter) n.356C>T | gnomAD v4 |
1 | g.119421914A>C | CA341396317 | HSD3B2 | c.413A>C (p.Gln138Pro) n.357A>C | gnomAD v4 |
1 | g.119421914A>G | CA341396321 | HSD3B2 | c.413A>G (p.Gln138Arg) n.357A>G | |
1 | g.119421914A>T | CA341396320 | HSD3B2 | c.413A>T (p.Gln138Leu) n.357A>T | gnomAD v4 |
1 | g.119421915G>A | CA419994274 | HSD3B2 | c.414G>A (p.Gln138=) n.358G>A | ClinVar dbSNP gnomAD v4 |
1 | g.119421915G>C | CA341396324 | HSD3B2 | c.414G>C (p.Gln138His) n.358G>C | |
1 | g.119421915G>T | CA341396330 | HSD3B2 | c.414G>T (p.Gln138His) n.358G>T | |
1 | g.119421916A>C | CA341396333 | HSD3B2 | c.415A>C (p.Asn139His) n.359A>C | |
1 | g.119421916A>G | CA341396335 | HSD3B2 | c.415A>G (p.Asn139Asp) n.359A>G | |
1 | g.119421916A>T | CA341396337 | HSD3B2 | c.415A>T (p.Asn139Tyr) n.359A>T | |
1 | g.119421917A= | CA1192292382 | HSD3B2 | c.416A= (p.Asn139=) n.360A= | |
1 | g.119421917A>C | CA341396338 | HSD3B2 | c.416A>C (p.Asn139Thr) n.360A>C | dbSNP |
1 | g.119421917A>G | CA341396340 | HSD3B2 | c.416A>G (p.Asn139Ser) n.360A>G | |
1 | g.119421917A>T | CA341396343 | HSD3B2 | c.416A>T (p.Asn139Ile) n.360A>T | |
1 | g.119421918C>A | CA341396346 | HSD3B2 | c.417C>A (p.Asn139Lys) n.361C>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.119421918C= | CA1143654768 | HSD3B2 | c.417C= (p.Asn139=) n.361C= | |
1 | g.119421918C>G | CA341396351 | HSD3B2 | c.417C>G (p.Asn139Lys) n.361C>G | |
1 | g.119421918C>T | CA1035968 | HSD3B2 | c.417C>T (p.Asn139=) n.361C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119421919G>A | CA1035969 | HSD3B2 | c.418G>A (p.Gly140Ser) n.362G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119421919G>C | CA341396354 | HSD3B2 | c.418G>C (p.Gly140Arg) n.362G>C | |
1 | g.119421919G= | CA1148214518 | HSD3B2 | c.418G= (p.Gly140=) n.362G= | |
1 | g.119421919G>T | CA341396355 | HSD3B2 | c.418G>T (p.Gly140Cys) n.362G>T | |
1 | g.119421920G>A | CA341396356 | HSD3B2 | c.419G>A (p.Gly140Asp) n.363G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.119421920G>C | CA341396357 | HSD3B2 | c.419G>C (p.Gly140Ala) n.363G>C | |
1 | g.119421920G= | CA1141850012 | HSD3B2 | c.419G= (p.Gly140=) n.363G= | |
1 | g.119421920G>T | CA1035970 | HSD3B2 | c.419G>T (p.Gly140Val) n.363G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119421921C>A | CA419994280 | HSD3B2 | c.420C>A (p.Gly140=) n.364C>A | |
1 | g.119421921C= | CA1192292391 | HSD3B2 | c.420C= (p.Gly140=) n.364C= | |
1 | g.119421921C>G | CA419994281 | HSD3B2 | c.420C>G (p.Gly140=) n.364C>G | |
1 | g.119421921C>T | CA1035971 | HSD3B2 | c.420C>T (p.Gly140=) n.364C>T | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.119421922C>A | CA341396359 | HSD3B2 | c.421C>A (p.His141Asn) n.365C>A | |
1 | g.119421922C>G | CA341396363 | HSD3B2 | c.421C>G (p.His141Asp) n.365C>G | |
1 | g.119421922C>T | CA341396365 | HSD3B2 | c.421C>T (p.His141Tyr) n.365C>T | |
1 | g.119421923A>C | CA341396367 | HSD3B2 | c.422A>C (p.His141Pro) n.366A>C | |
1 | g.119421923A>G | CA341396368 | HSD3B2 | c.422A>G (p.His141Arg) n.366A>G | gnomAD v4 |
1 | g.119421923A>T | CA341396375 | HSD3B2 | c.422A>T (p.His141Leu) n.366A>T | |
1 | g.119421924C>A | CA341396378 | HSD3B2 | c.423C>A (p.His141Gln) n.367C>A | |
1 | g.119421924C= | CA1192292394 | HSD3B2 | c.423C= (p.His141=) n.367C= | |
1 | g.119421924C>G | CA341396381 | HSD3B2 | c.423C>G (p.His141Gln) n.367C>G | |
1 | g.119421924C>T | CA1035972 | HSD3B2 | c.423C>T (p.His141=) n.367C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119421925G>A | CA121931 | HSD3B2 | c.424G>A (p.Glu142Lys) n.368G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119421925G>C | CA341396387 | HSD3B2 | c.424G>C (p.Glu142Gln) n.368G>C | |
1 | g.119421925G= | CA1141187974 | HSD3B2 | c.424G= (p.Glu142=) n.368G= | |
1 | g.119421925G>T | CA1035973 | HSD3B2 | c.424G>T (p.Glu142Ter) n.368G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119421926A>C | CA341396389 | HSD3B2 | c.425A>C (p.Glu142Ala) n.369A>C | |
1 | g.119421926A>G | CA341396390 | HSD3B2 | c.425A>G (p.Glu142Gly) n.369A>G | |
1 | g.119421926A>T | CA341396392 | HSD3B2 | c.425A>T (p.Glu142Val) n.369A>T |