| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30986514del | CA2575973590 | HSD3B7 | c.414del (p.Gly139ValfsTer?) c.537del (p.Gly180ValfsTer?) | |
| 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) |