| 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.30986623A>C | CA494920676 | HSD3B7 | c.450A>C (p.Pro150=) c.573A>C (p.Pro191=) | |
| 16 | g.30986623A>G | CA494920677 | HSD3B7 | c.450A>G (p.Pro150=) c.573A>G (p.Pro191=) | gnomAD v4 |
| 16 | g.30986623A>T | CA494920678 | HSD3B7 | c.450A>T (p.Pro150=) c.573A>T (p.Pro191=) | |
| 16 | g.30986624T>A | CA395640520 | HSD3B7 | c.451T>A (p.Tyr151Asn) c.574T>A (p.Tyr192Asn) | |
| 16 | g.30986624T>C | CA395640522 | HSD3B7 | c.451T>C (p.Tyr151His) c.574T>C (p.Tyr192His) | dbSNP gnomAD v4 |
| 16 | g.30986624T>G | CA395640524 | HSD3B7 | c.451T>G (p.Tyr151Asp) c.574T>G (p.Tyr192Asp) | |
| 16 | g.30986624T= | CA2216822220 | HSD3B7 | c.451T= (p.Tyr151=) c.574T= (p.Tyr192=) | |
| 16 | g.30986625A>C | CA395640526 | HSD3B7 | c.452A>C (p.Tyr151Ser) c.575A>C (p.Tyr192Ser) | |
| 16 | g.30986625A>G | CA395640528 | HSD3B7 | c.452A>G (p.Tyr151Cys) c.575A>G (p.Tyr192Cys) | |
| 16 | g.30986625A>T | CA395640530 | HSD3B7 | c.452A>T (p.Tyr151Phe) c.575A>T (p.Tyr192Phe) | |
| 16 | g.30986625_30986626delinsAC | CA2216822227 | HSD3B7 | c.452_453delinsAC (p.Tyr151=) c.575_576delinsAC (p.Tyr192=) | |
| 16 | g.30986626del | CA913190930 | HSD3B7 | c.453del (p.Tyr151Ter) c.576del (p.Tyr192Ter) | ClinVar dbSNP |
| 16 | g.30986626C>A | CA395640535 | HSD3B7 | c.453C>A (p.Tyr151Ter) c.576C>A (p.Tyr192Ter) | gnomAD v4 |
| 16 | g.30986626C= | CA2216822235 | HSD3B7 | c.453C= (p.Tyr151=) c.576C= (p.Tyr192=) | |
| 16 | g.30986626C>G | CA395640533 | HSD3B7 | c.453C>G (p.Tyr151Ter) c.576C>G (p.Tyr192Ter) | |
| 16 | g.30986626C>T | CA8018000 | HSD3B7 | c.453C>T (p.Tyr151=) c.576C>T (p.Tyr192=) | dbSNP ExAC gnomAD v2 gnomAD v3 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) |