Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |