Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.30986604_30986632delinsGGGGCAACGAAGACACCCCATACGAAGCA | CA2216822154 | HSD3B7 | c.432-1_459delinsGGGGCAACGAAGACACCCCATACGAAGCA c.555-1_582delinsGGGGCAACGAAGACACCCCATACGAAGCA | |
16 | g.30986606_30986633del | CA8017997 | HSD3B7 | c.433_460del (p.Gly145CysfsTer?) c.556_583del (p.Gly186CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986627G>A | CA8018001 | HSD3B7 | c.454G>A (p.Glu152Lys) c.577G>A (p.Glu193Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986627G>C | CA395640539 | HSD3B7 | c.454G>C (p.Glu152Gln) c.577G>C (p.Glu193Gln) | |
16 | g.30986627G= | CA2216822248 | HSD3B7 | c.454G= (p.Glu152=) c.577G= (p.Glu193=) | |
16 | g.30986627G>T | CA395640541 | HSD3B7 | c.454G>T (p.Glu152Ter) c.577G>T (p.Glu193Ter) | COSMIC |
16 | g.30986628A>C | CA395640543 | HSD3B7 | c.455A>C (p.Glu152Ala) c.578A>C (p.Glu193Ala) | |
16 | g.30986628A>G | CA395640546 | HSD3B7 | c.455A>G (p.Glu152Gly) c.578A>G (p.Glu193Gly) | |
16 | g.30986628A>T | CA395640548 | HSD3B7 | c.455A>T (p.Glu152Val) c.578A>T (p.Glu193Val) | |
16 | g.30986629A>C | CA395640552 | HSD3B7 | c.456A>C (p.Glu152Asp) c.579A>C (p.Glu193Asp) | |
16 | g.30986629A>G | CA494920685 | HSD3B7 | c.456A>G (p.Glu152=) c.579A>G (p.Glu193=) | |
16 | g.30986629A>T | CA395640550 | HSD3B7 | c.456A>T (p.Glu152Asp) c.579A>T (p.Glu193Asp) | |
16 | g.30986630G>A | CA395640553 | HSD3B7 | c.457G>A (p.Ala153Thr) c.580G>A (p.Ala194Thr) | |
16 | g.30986630G>C | CA395640554 | HSD3B7 | c.457G>C (p.Ala153Pro) c.580G>C (p.Ala194Pro) | |
16 | g.30986630G>T | CA395640556 | HSD3B7 | c.457G>T (p.Ala153Ser) c.580G>T (p.Ala194Ser) | |
16 | g.30986631C>A | CA395640557 | HSD3B7 | c.458C>A (p.Ala153Glu) c.581C>A (p.Ala194Glu) | |
16 | g.30986631C>G | CA395640559 | HSD3B7 | c.458C>G (p.Ala153Gly) c.581C>G (p.Ala194Gly) | |
16 | g.30986631C>T | CA395640561 | HSD3B7 | c.458C>T (p.Ala153Val) c.581C>T (p.Ala194Val) | |
16 | g.30986632A>C | CA494920689 | HSD3B7 | c.459A>C (p.Ala153=) c.582A>C (p.Ala194=) | |
16 | g.30986632A>G | CA494920691 | HSD3B7 | c.459A>G (p.Ala153=) c.582A>G (p.Ala194=) | |
16 | g.30986632A>T | CA494920690 | HSD3B7 | c.459A>T (p.Ala153=) c.582A>T (p.Ala194=) | |
16 | g.30986633G>A | CA395640563 | HSD3B7 | c.460G>A (p.Val154Met) c.583G>A (p.Val195Met) | |
16 | g.30986633G>C | CA395640565 | HSD3B7 | c.460G>C (p.Val154Leu) c.583G>C (p.Val195Leu) | |
16 | g.30986633G>T | CA395640564 | HSD3B7 | c.460G>T (p.Val154Leu) c.583G>T (p.Val195Leu) | |
16 | g.30986634T>A | CA395640568 | HSD3B7 | c.461T>A (p.Val154Glu) c.584T>A (p.Val195Glu) | |
16 | g.30986634T>C | CA8018002 | HSD3B7 | c.461T>C (p.Val154Ala) c.584T>C (p.Val195Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986634T>G | CA395640571 | HSD3B7 | c.461T>G (p.Val154Gly) c.584T>G (p.Val195Gly) | |
16 | g.30986634T= | CA2216822257 | HSD3B7 | c.461T= (p.Val154=) c.584T= (p.Val195=) | |
16 | g.30986635G>A | CA494920694 | HSD3B7 | c.462G>A (p.Val154=) c.585G>A (p.Val195=) | |
16 | g.30986635G>C | CA494920695 | HSD3B7 | c.462G>C (p.Val154=) c.585G>C (p.Val195=) | |
16 | g.30986635G>T | CA494920696 | HSD3B7 | c.462G>T (p.Val154=) c.585G>T (p.Val195=) | |
16 | g.30986636C>A | CA395640574 | HSD3B7 | c.463C>A (p.His155Asn) c.586C>A (p.His196Asn) | dbSNP |
16 | g.30986636C= | CA2216822261 | HSD3B7 | c.463C= (p.His155=) c.586C= (p.His196=) | |
16 | g.30986636C>G | CA395640576 | HSD3B7 | c.463C>G (p.His155Asp) c.586C>G (p.His196Asp) | |
16 | g.30986636C>T | CA395640578 | HSD3B7 | c.463C>T (p.His155Tyr) c.586C>T (p.His196Tyr) | gnomAD v4 |
16 | g.30986637A>C | CA395640581 | HSD3B7 | c.464A>C (p.His155Pro) c.587A>C (p.His196Pro) | |
16 | g.30986637A>G | CA395640582 | HSD3B7 | c.464A>G (p.His155Arg) c.587A>G (p.His196Arg) | |
16 | g.30986637A>T | CA395640584 | HSD3B7 | c.464A>T (p.His155Leu) c.587A>T (p.His196Leu) | gnomAD v4 |
16 | g.30986637_30986638delinsAC | CA2216822264 | HSD3B7 | c.464_465delinsAC (p.His155=) c.587_588delinsAC (p.His196=) | |
16 | g.30986638del | CA622171176 | HSD3B7 | c.465del (p.His155GlnfsTer?) c.588del (p.His196GlnfsTer?) | dbSNP gnomAD v2 |
16 | g.30986638C>A | CA395640587 | HSD3B7 | c.465C>A (p.His155Gln) c.588C>A (p.His196Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986638C= | CA2216822271 | HSD3B7 | c.465C= (p.His155=) c.588C= (p.His196=) | |
16 | g.30986638C>G | CA395640588 | HSD3B7 | c.465C>G (p.His155Gln) c.588C>G (p.His196Gln) | COSMIC |
16 | g.30986638C>T | CA494920699 | HSD3B7 | c.465C>T (p.His155=) c.588C>T (p.His196=) | |
16 | g.30986639A= | CA2216822283 | HSD3B7 | c.466A= (p.Arg156=) c.589A= (p.Arg197=) | |
16 | g.30986639A>C | CA494920700 | HSD3B7 | c.466A>C (p.Arg156=) c.589A>C (p.Arg197=) | |
16 | g.30986639A>G | CA8018003 | HSD3B7 | c.466A>G (p.Arg156Gly) c.589A>G (p.Arg197Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.30986639A>T | CA395640589 | HSD3B7 | c.466A>T (p.Arg156Trp) c.589A>T (p.Arg197Trp) | |
16 | g.30986640G>A | CA395640592 | HSD3B7 | c.467G>A (p.Arg156Lys) c.590G>A (p.Arg197Lys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986640G>C | CA395640596 | HSD3B7 | c.467G>C (p.Arg156Thr) c.590G>C (p.Arg197Thr) | dbSNP gnomAD v3 gnomAD v4 |