Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536228A>C | CA402141252 | DSG2 | c.1450A>C (p.Thr484Pro) c.916A>C (p.Thr306Pro) | |
18 | g.31536228A>G | CA402141255 | DSG2 | c.1450A>G (p.Thr484Ala) c.916A>G (p.Thr306Ala) | |
18 | g.31536228A>T | CA402141253 | DSG2 | c.1450A>T (p.Thr484Ser) c.916A>T (p.Thr306Ser) | |
18 | g.31536229C>A | CA402141257 | DSG2 | c.1451C>A (p.Thr484Lys) c.917C>A (p.Thr306Lys) | |
18 | g.31536229C= | CA2293861927 | DSG2 | c.1451C= (p.Thr484=) c.917C= (p.Thr306=) | |
18 | g.31536229C>G | CA402141261 | DSG2 | c.1451C>G (p.Thr484Arg) c.917C>G (p.Thr306Arg) | |
18 | g.31536229C>T | CA297741280 | DSG2 | c.1451C>T (p.Thr484Ile) c.917C>T (p.Thr306Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536230A>C | CA503600671 | DSG2 | c.1452A>C (p.Thr484=) c.918A>C (p.Thr306=) | |
18 | g.31536230A>G | CA503600672 | DSG2 | c.1452A>G (p.Thr484=) c.918A>G (p.Thr306=) | ClinVar dbSNP gnomAD v4 |
18 | g.31536230A>T | CA503600673 | DSG2 | c.1452A>T (p.Thr484=) c.918A>T (p.Thr306=) | |
18 | g.31536231G>A | CA402141263 | DSG2 | c.1453G>A (p.Val485Ile) c.919G>A (p.Val307Ile) | |
18 | g.31536231G>C | CA402141266 | DSG2 | c.1453G>C (p.Val485Leu) c.919G>C (p.Val307Leu) | |
18 | g.31536231G>T | CA402141271 | DSG2 | c.1453G>T (p.Val485Phe) c.919G>T (p.Val307Phe) | |
18 | g.31536232T>A | CA402141272 | DSG2 | c.1454T>A (p.Val485Asp) c.920T>A (p.Val307Asp) | |
18 | g.31536232T>C | CA402141274 | DSG2 | c.1454T>C (p.Val485Ala) c.920T>C (p.Val307Ala) | |
18 | g.31536232T>G | CA402141275 | DSG2 | c.1454T>G (p.Val485Gly) c.920T>G (p.Val307Gly) | |
18 | g.31536232_31536233delinsTC | CA2293861928 | DSG2 | c.1454_1455delinsTC (p.Val485=) c.920_921delinsTC (p.Val307=) | |
18 | g.31536233C>A | CA503600678 | DSG2 | c.1455C>A (p.Val485=) c.921C>A (p.Val307=) | gnomAD v4 |
18 | g.31536233C= | CA2293861929 | DSG2 | c.1455C= (p.Val485=) c.921C= (p.Val307=) | |
18 | g.31536233C>G | CA503600680 | DSG2 | c.1455C>G (p.Val485=) c.921C>G (p.Val307=) | |
18 | g.31536233C>T | CA503600681 | DSG2 | c.1455C>T (p.Val485=) c.921C>T (p.Val307=) | ClinVar dbSNP gnomAD v4 |
18 | g.31536234del | CA988925766 | DSG2 | c.1456del (p.Ile487SerfsTer13) c.922del (p.Ile309SerfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536234C>A | CA402141278 | DSG2 | c.1456C>A (p.Leu486Ile) c.922C>A (p.Leu308Ile) | |
18 | g.31536234C>G | CA402141280 | DSG2 | c.1456C>G (p.Leu486Val) c.922C>G (p.Leu308Val) | |
18 | g.31536234C>T | CA402141282 | DSG2 | c.1456C>T (p.Leu486Phe) c.922C>T (p.Leu308Phe) | |
18 | g.31536235T>A | CA402141286 | DSG2 | c.1457T>A (p.Leu486His) c.923T>A (p.Leu308His) | |
18 | g.31536235T>C | CA402141292 | DSG2 | c.1457T>C (p.Leu486Pro) c.923T>C (p.Leu308Pro) | |
18 | g.31536235T>G | CA402141293 | DSG2 | c.1457T>G (p.Leu486Arg) c.923T>G (p.Leu308Arg) | |
18 | g.31536236T>A | CA503600682 | DSG2 | c.1458T>A (p.Leu486=) c.924T>A (p.Leu308=) | |
18 | g.31536236T>C | CA042509 | DSG2 | c.1458T>C (p.Leu486=) c.924T>C (p.Leu308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536236T>G | CA503600683 | DSG2 | c.1458T>G (p.Leu486=) c.924T>G (p.Leu308=) | |
18 | g.31536236T= | CA2293861930 | DSG2 | c.1458T= (p.Leu486=) c.924T= (p.Leu308=) | |
18 | g.31536237A>C | CA402141297 | DSG2 | c.1459A>C (p.Ile487Leu) c.925A>C (p.Ile309Leu) | |
18 | g.31536237A>G | CA402141294 | DSG2 | c.1459A>G (p.Ile487Val) c.925A>G (p.Ile309Val) | |
18 | g.31536237A>T | CA402141295 | DSG2 | c.1459A>T (p.Ile487Phe) c.925A>T (p.Ile309Phe) | |
18 | g.31536238T>A | CA402141300 | DSG2 | c.1460T>A (p.Ile487Asn) c.926T>A (p.Ile309Asn) | |
18 | g.31536238T>C | CA021380 | DSG2 | c.1460T>C (p.Ile487Thr) c.926T>C (p.Ile309Thr) | ClinVar dbSNP |
18 | g.31536238T>G | CA297741309 | DSG2 | c.1460T>G (p.Ile487Ser) c.926T>G (p.Ile309Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536238T= | CA2293861931 | DSG2 | c.1460T= (p.Ile487=) c.926T= (p.Ile309=) | |
18 | g.31536239C>A | CA503600684 | DSG2 | c.1461C>A (p.Ile487=) c.927C>A (p.Ile309=) | |
18 | g.31536239C>G | CA402141304 | DSG2 | c.1461C>G (p.Ile487Met) c.927C>G (p.Ile309Met) | |
18 | g.31536239C>T | CA503600685 | DSG2 | c.1461C>T (p.Ile487=) c.927C>T (p.Ile309=) | COSMIC |
18 | g.31536240A>C | CA402141312 | DSG2 | c.1462A>C (p.Asn488His) c.928A>C (p.Asn310His) | |
18 | g.31536240A>G | CA402141315 | DSG2 | c.1462A>G (p.Asn488Asp) c.928A>G (p.Asn310Asp) | |
18 | g.31536240A>T | CA402141317 | DSG2 | c.1462A>T (p.Asn488Tyr) c.928A>T (p.Asn310Tyr) | |
18 | g.31536241A= | CA2293861932 | DSG2 | c.1463A= (p.Asn488=) c.929A= (p.Asn310=) | |
18 | g.31536241A>C | CA402141324 | DSG2 | c.1463A>C (p.Asn488Thr) c.929A>C (p.Asn310Thr) | |
18 | g.31536241A>G | CA021387 | DSG2 | c.1463A>G (p.Asn488Ser) c.929A>G (p.Asn310Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536241A>T | CA402141328 | DSG2 | c.1463A>T (p.Asn488Ile) c.929A>T (p.Asn310Ile) | |
18 | g.31536242T>A | CA402141334 | DSG2 | c.1464T>A (p.Asn488Lys) c.930T>A (p.Asn310Lys) |