Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31082961C>A | CA402110467 | DSC2 | c.613G>T (p.Val205Leu) c.1042G>T (p.Val348Leu) | |
18 | g.31082961C= | CA2293652160 | DSC2 | c.613G= (p.Val205=) c.1042G= (p.Val348=) | |
18 | g.31082961C>G | CA402110468 | DSC2 | c.613G>C (p.Val205Leu) c.1042G>C (p.Val348Leu) | dbSNP |
18 | g.31082961C>T | CA402110469 | DSC2 | c.613G>A (p.Val205Ile) c.1042G>A (p.Val348Ile) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31082962A= | CA2293652161 | DSC2 | c.612T= (p.Asp204=) c.1041T= (p.Asp347=) | |
18 | g.31082962A>C | CA402110471 | DSC2 | c.612T>G (p.Asp204Glu) c.1041T>G (p.Asp347Glu) | |
18 | g.31082962A>G | CA029373 | DSC2 | c.612T>C (p.Asp204=) c.1041T>C (p.Asp347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.31082962A>T | CA402110473 | DSC2 | c.612T>A (p.Asp204Glu) c.1041T>A (p.Asp347Glu) | |
18 | g.31082963T>A | CA402110477 | DSC2 | c.611A>T (p.Asp204Val) c.1040A>T (p.Asp347Val) | |
18 | g.31082963T>C | CA402110479 | DSC2 | c.611A>G (p.Asp204Gly) c.1040A>G (p.Asp347Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.31082963T>G | CA402110480 | DSC2 | c.611A>C (p.Asp204Ala) c.1040A>C (p.Asp347Ala) | |
18 | g.31082964C>A | CA402110482 | DSC2 | c.610G>T (p.Asp204Tyr) c.1039G>T (p.Asp347Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31082964C= | CA2293652162 | DSC2 | c.610G= (p.Asp204=) c.1039G= (p.Asp347=) | |
18 | g.31082964C>G | CA402110488 | DSC2 | c.610G>C (p.Asp204His) c.1039G>C (p.Asp347His) | |
18 | g.31082964C>T | CA402110484 | DSC2 | c.610G>A (p.Asp204Asn) c.1039G>A (p.Asp347Asn) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31082965A>C | CA402110491 | DSC2 | c.609T>G (p.Asp203Glu) c.1038T>G (p.Asp346Glu) | |
18 | g.31082965A>G | CA503387547 | DSC2 | c.609T>C (p.Asp203=) c.1038T>C (p.Asp346=) | ClinVar dbSNP gnomAD v4 |
18 | g.31082965A>T | CA402110492 | DSC2 | c.609T>A (p.Asp203Glu) c.1038T>A (p.Asp346Glu) | |
18 | g.31082967_31082970del | CA2641387855 | DSC2 | c.606_609del (p.Ile202MetfsTer3) c.1035_1038del (p.Ile345MetfsTer3) | gnomAD v4 |
18 | g.31082966T>A | CA402110504 | DSC2 | c.608A>T (p.Asp203Val) c.1037A>T (p.Asp346Val) | ClinVar dbSNP |
18 | g.31082966T>C | CA402110507 | DSC2 | c.608A>G (p.Asp203Gly) c.1037A>G (p.Asp346Gly) | |
18 | g.31082966T>G | CA402110510 | DSC2 | c.608A>C (p.Asp203Ala) c.1037A>C (p.Asp346Ala) | |
18 | g.31082966T= | CA2293652163 | DSC2 | c.608A= (p.Asp203=) c.1037A= (p.Asp346=) | |
18 | g.31082967C>A | CA402110513 | DSC2 | c.607G>T (p.Asp203Tyr) c.1036G>T (p.Asp346Tyr) | |
18 | g.31082967C>G | CA402110515 | DSC2 | c.607G>C (p.Asp203His) c.1036G>C (p.Asp346His) | |
18 | g.31082967C>T | CA402110518 | DSC2 | c.607G>A (p.Asp203Asn) c.1036G>A (p.Asp346Asn) | |
18 | g.31082968A= | CA2293652164 | DSC2 | c.606T= (p.Ile202=) c.1035T= (p.Ile345=) | |
18 | g.31082968A>C | CA402110520 | DSC2 | c.606T>G (p.Ile202Met) c.1035T>G (p.Ile345Met) | ClinVar dbSNP |
18 | g.31082968A>G | CA503387556 | DSC2 | c.606T>C (p.Ile202=) c.1035T>C (p.Ile345=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.31082968A>T | CA503387558 | DSC2 | c.606T>A (p.Ile202=) c.1035T>A (p.Ile345=) | |
18 | g.31082969A= | CA2293652165 | DSC2 | c.605T= (p.Ile202=) c.1034T= (p.Ile345=) | |
18 | g.31082969A>C | CA402110523 | DSC2 | c.605T>G (p.Ile202Ser) c.1034T>G (p.Ile345Ser) | |
18 | g.31082969A>G | CA029302 | DSC2 | c.605T>C (p.Ile202Thr) c.1034T>C (p.Ile345Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31082969A>T | CA402110528 | DSC2 | c.605T>A (p.Ile202Asn) c.1034T>A (p.Ile345Asn) | |
18 | g.31082970T>A | CA402110536 | DSC2 | c.604A>T (p.Ile202Phe) c.1033A>T (p.Ile345Phe) | |
18 | g.31082970T>C | CA402110531 | DSC2 | c.604A>G (p.Ile202Val) c.1033A>G (p.Ile345Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31082970T>G | CA402110533 | DSC2 | c.604A>C (p.Ile202Leu) c.1033A>C (p.Ile345Leu) | |
18 | g.31082970T= | CA2293652166 | DSC2 | c.604A= (p.Ile202=) c.1033A= (p.Ile345=) | |
18 | g.31082971G>A | CA503387566 | DSC2 | c.603C>T (p.Asn201=) c.1032C>T (p.Asn344=) | |
18 | g.31082971G>C | CA402110539 | DSC2 | c.603C>G (p.Asn201Lys) c.1032C>G (p.Asn344Lys) | |
18 | g.31082971G>T | CA402110542 | DSC2 | c.603C>A (p.Asn201Lys) c.1032C>A (p.Asn344Lys) | |
18 | g.31082972T>A | CA402110546 | DSC2 | c.602A>T (p.Asn201Ile) c.1031A>T (p.Asn344Ile) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31082972T>C | CA402110548 | DSC2 | c.602A>G (p.Asn201Ser) c.1031A>G (p.Asn344Ser) | |
18 | g.31082972T>G | CA402110549 | DSC2 | c.602A>C (p.Asn201Thr) c.1031A>C (p.Asn344Thr) | COSMIC COSMIC |
18 | g.31082972_31082975delinsTTAA | CA2293652167 | DSC2 | c.599_602delinsTTAA (p.Ile200=) c.1028_1031delinsTTAA (p.Ile343=) | |
18 | g.31082973T>A | CA402110552 | DSC2 | c.601A>T (p.Asn201Tyr) c.1030A>T (p.Asn344Tyr) | |
18 | g.31082973T>C | CA402110554 | DSC2 | c.601A>G (p.Asn201Asp) c.1030A>G (p.Asn344Asp) | |
18 | g.31082973T>G | CA402110557 | DSC2 | c.601A>C (p.Asn201His) c.1030A>C (p.Asn344His) | |
18 | g.31082974_31082976del | CA658799033 | DSC2 | c.599_601del (p.Ile200del) c.1028_1030del (p.Ile343del) | ClinVar dbSNP |
18 | g.31082974A= | CA2293652168 | DSC2 | c.600T= (p.Ile200=) c.1029T= (p.Ile343=) |