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.30986612G>A | CA115827 | HSD3B7 | c.439G>A (p.Glu147Lys) c.562G>A (p.Glu188Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.30986612G>C | CA395640470 | HSD3B7 | c.439G>C (p.Glu147Gln) c.562G>C (p.Glu188Gln) | |
16 | g.30986612G= | CA2216822183 | HSD3B7 | c.439G= (p.Glu147=) c.562G= (p.Glu188=) | |
16 | g.30986612G>T | CA395640472 | HSD3B7 | c.439G>T (p.Glu147Ter) c.562G>T (p.Glu188Ter) | |
16 | g.30986613A>C | CA395640477 | HSD3B7 | c.440A>C (p.Glu147Ala) c.563A>C (p.Glu188Ala) | |
16 | g.30986613A>G | CA395640475 | HSD3B7 | c.440A>G (p.Glu147Gly) c.563A>G (p.Glu188Gly) | |
16 | g.30986613A>T | CA395640474 | HSD3B7 | c.440A>T (p.Glu147Val) c.563A>T (p.Glu188Val) | |
16 | g.30986614A>C | CA395640479 | HSD3B7 | c.441A>C (p.Glu147Asp) c.564A>C (p.Glu188Asp) | |
16 | g.30986614A>G | CA494920667 | HSD3B7 | c.441A>G (p.Glu147=) c.564A>G (p.Glu188=) | |
16 | g.30986614A>T | CA395640481 | HSD3B7 | c.441A>T (p.Glu147Asp) c.564A>T (p.Glu188Asp) | |
16 | g.30986615G>A | CA395640482 | HSD3B7 | c.442G>A (p.Asp148Asn) c.565G>A (p.Asp189Asn) | gnomAD v4 |
16 | g.30986615G>C | CA395640483 | HSD3B7 | c.442G>C (p.Asp148His) c.565G>C (p.Asp189His) | |
16 | g.30986615G>T | CA395640485 | HSD3B7 | c.442G>T (p.Asp148Tyr) c.565G>T (p.Asp189Tyr) | |
16 | g.30986616A= | CA2216822184 | HSD3B7 | c.443A= (p.Asp148=) c.566A= (p.Asp189=) | |
16 | g.30986616A>C | CA395640488 | HSD3B7 | c.443A>C (p.Asp148Ala) c.566A>C (p.Asp189Ala) | |
16 | g.30986616A>G | CA395640490 | HSD3B7 | c.443A>G (p.Asp148Gly) c.566A>G (p.Asp189Gly) | |
16 | g.30986616A>T | CA8017998 | HSD3B7 | c.443A>T (p.Asp148Val) c.566A>T (p.Asp189Val) | dbSNP ExAC gnomAD v2 |
16 | g.30986617C>A | CA395640492 | HSD3B7 | c.444C>A (p.Asp148Glu) c.567C>A (p.Asp189Glu) | |
16 | g.30986617C= | CA2216822190 | HSD3B7 | c.444C= (p.Asp148=) c.567C= (p.Asp189=) | |
16 | g.30986617C>G | CA395640494 | HSD3B7 | c.444C>G (p.Asp148Glu) c.567C>G (p.Asp189Glu) | |
16 | g.30986617C>T | CA494920669 | HSD3B7 | c.444C>T (p.Asp148=) c.567C>T (p.Asp189=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.30986618A= | CA2216822198 | HSD3B7 | c.445A= (p.Thr149=) c.568A= (p.Thr190=) | |
16 | g.30986618A>C | CA395640497 | HSD3B7 | c.445A>C (p.Thr149Pro) c.568A>C (p.Thr190Pro) | |
16 | g.30986618A>G | CA395640498 | HSD3B7 | c.445A>G (p.Thr149Ala) c.568A>G (p.Thr190Ala) | |
16 | g.30986618A>T | CA8017999 | HSD3B7 | c.445A>T (p.Thr149Ser) c.568A>T (p.Thr190Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.30986619C>A | CA395640505 | HSD3B7 | c.446C>A (p.Thr149Asn) c.569C>A (p.Thr190Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986619C= | CA2216822201 | HSD3B7 | c.446C= (p.Thr149=) c.569C= (p.Thr190=) | |
16 | g.30986619C>G | CA395640503 | HSD3B7 | c.446C>G (p.Thr149Ser) c.569C>G (p.Thr190Ser) | |
16 | g.30986619C>T | CA395640501 | HSD3B7 | c.446C>T (p.Thr149Ile) c.569C>T (p.Thr190Ile) | gnomAD v4 |
16 | g.30986620C>A | CA494920671 | HSD3B7 | c.447C>A (p.Thr149=) c.570C>A (p.Thr190=) | |
16 | g.30986620C>G | CA494920673 | HSD3B7 | c.447C>G (p.Thr149=) c.570C>G (p.Thr190=) | |
16 | g.30986620C>T | CA494920675 | HSD3B7 | c.447C>T (p.Thr149=) c.570C>T (p.Thr190=) | COSMIC |
16 | g.30986621C>A | CA395640508 | HSD3B7 | c.448C>A (p.Pro150Thr) c.571C>A (p.Pro191Thr) | |
16 | g.30986621C= | CA2216822206 | HSD3B7 | c.448C= (p.Pro150=) c.571C= (p.Pro191=) | |
16 | g.30986621C>G | CA395640510 | HSD3B7 | c.448C>G (p.Pro150Ala) c.571C>G (p.Pro191Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.30986621C>T | CA395640512 | HSD3B7 | c.448C>T (p.Pro150Ser) c.571C>T (p.Pro191Ser) | |
16 | g.30986622C>A | CA395640514 | HSD3B7 | c.449C>A (p.Pro150Gln) c.572C>A (p.Pro191Gln) | |
16 | g.30986622C= | CA2216822215 | HSD3B7 | c.449C= (p.Pro150=) c.572C= (p.Pro191=) | |
16 | g.30986622C>G | CA395640516 | HSD3B7 | c.449C>G (p.Pro150Arg) c.572C>G (p.Pro191Arg) | gnomAD v4 |
16 | g.30986622C>T | CA395640518 | HSD3B7 | c.449C>T (p.Pro150Leu) c.572C>T (p.Pro191Leu) | dbSNP gnomAD v3 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) |