Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.31536328C>A | CA402141758 | DSG2 | c.1550C>A (p.Ala517Glu) c.1016C>A (p.Ala339Glu) | gnomAD v4 |
18 | g.31536328C= | CA2293861975 | DSG2 | c.1550C= (p.Ala517=) c.1016C= (p.Ala339=) | |
18 | g.31536328C>G | CA402141761 | DSG2 | c.1550C>G (p.Ala517Gly) c.1016C>G (p.Ala339Gly) | |
18 | g.31536328C>T | CA021465 | DSG2 | c.1550C>T (p.Ala517Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536329A>C | CA503600737 | DSG2 | c.1551A>C (p.Ala517=) c.1017A>C (p.Ala339=) | |
18 | g.31536329A>G | CA503600739 | DSG2 | c.1551A>G (p.Ala517=) c.1017A>G (p.Ala339=) | |
18 | g.31536329A>T | CA503600738 | DSG2 | c.1551A>T (p.Ala517=) c.1017A>T (p.Ala339=) | |
18 | g.31536330G>A | CA402141764 | DSG2 | c.1552G>A (p.Glu518Lys) c.1018G>A (p.Glu340Lys) | |
18 | g.31536330G>C | CA402141765 | DSG2 | c.1552G>C (p.Glu518Gln) c.1018G>C (p.Glu340Gln) | COSMIC |
18 | g.31536330G>T | CA402141767 | DSG2 | c.1552G>T (p.Glu518Ter) c.1018G>T (p.Glu340Ter) | |
18 | g.31536331A>C | CA402141770 | DSG2 | c.1553A>C (p.Glu518Ala) c.1019A>C (p.Glu340Ala) | |
18 | g.31536331A>G | CA402141773 | DSG2 | c.1553A>G (p.Glu518Gly) c.1019A>G (p.Glu340Gly) | ClinVar dbSNP |
18 | g.31536331A>T | CA402141774 | DSG2 | c.1553A>T (p.Glu518Val) c.1019A>T (p.Glu340Val) | |
18 | g.31536332G>A | CA503600740 | DSG2 | c.1554G>A (p.Glu518=) c.1020G>A (p.Glu340=) | ClinVar dbSNP gnomAD v4 |
18 | g.31536332G>C | CA402141776 | DSG2 | c.1554G>C (p.Glu518Asp) c.1020G>C (p.Glu340Asp) | |
18 | g.31536332G>T | CA402141777 | DSG2 | c.1554G>T (p.Glu518Asp) c.1020G>T (p.Glu340Asp) | |
18 | g.31536333G>A | CA402141780 | DSG2 | c.1555G>A (p.Asp519Asn) c.1021G>A (p.Asp341Asn) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.31536333G>C | CA402141782 | DSG2 | c.1555G>C (p.Asp519His) c.1021G>C (p.Asp341His) | ClinVar dbSNP gnomAD v4 |
18 | g.31536333G= | CA2293861976 | DSG2 | c.1555G= (p.Asp519=) c.1021G= (p.Asp341=) | |
18 | g.31536333G>T | CA021474 | DSG2 | c.1555G>T (p.Asp519Tyr) c.1021G>T (p.Asp341Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536334A>C | CA402141785 | DSG2 | c.1556A>C (p.Asp519Ala) c.1022A>C (p.Asp341Ala) | |
18 | g.31536334A>G | CA402141787 | DSG2 | c.1556A>G (p.Asp519Gly) c.1022A>G (p.Asp341Gly) | COSMIC |
18 | g.31536334A>T | CA402141786 | DSG2 | c.1556A>T (p.Asp519Val) c.1022A>T (p.Asp341Val) | |
18 | g.31536335C>A | CA402141789 | DSG2 | c.1557C>A (p.Asp519Glu) c.1023C>A (p.Asp341Glu) | dbSNP gnomAD v4 |
18 | g.31536335C= | CA2293861977 | DSG2 | c.1557C= (p.Asp519=) c.1023C= (p.Asp341=) | |
18 | g.31536335C>G | CA402141790 | DSG2 | c.1557C>G (p.Asp519Glu) c.1023C>G (p.Asp341Glu) | |
18 | g.31536335C>T | CA503600741 | DSG2 | c.1557C>T (p.Asp519=) c.1023C>T (p.Asp341=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.31536336C>A | CA402141793 | DSG2 | c.1558C>A (p.Leu520Met) c.1024C>A (p.Leu342Met) | |
18 | g.31536336C>G | CA402141794 | DSG2 | c.1558C>G (p.Leu520Val) c.1024C>G (p.Leu342Val) | |
18 | g.31536336C>T | CA503600742 | DSG2 | c.1558C>T (p.Leu520=) c.1024C>T (p.Leu342=) | |
18 | g.31536337T>A | CA402141796 | DSG2 | c.1559T>A (p.Leu520Gln) c.1025T>A (p.Leu342Gln) | |
18 | g.31536337T>C | CA402141798 | DSG2 | c.1559T>C (p.Leu520Pro) c.1025T>C (p.Leu342Pro) | |
18 | g.31536337T>G | CA402141799 | DSG2 | c.1559T>G (p.Leu520Arg) c.1025T>G (p.Leu342Arg) | |
18 | g.31536338G>A | CA503600743 | DSG2 | c.1560G>A (p.Leu520=) c.1026G>A (p.Leu342=) | |
18 | g.31536338G>C | CA503600744 | DSG2 | c.1560G>C (p.Leu520=) c.1026G>C (p.Leu342=) | |
18 | g.31536338G>T | CA503600745 | DSG2 | c.1560G>T (p.Leu520=) c.1026G>T (p.Leu342=) | |
18 | g.31536339G>A | CA402141802 | DSG2 | c.1561G>A (p.Asp521Asn) c.1027G>A (p.Asp343Asn) | ClinVar dbSNP gnomAD v4 |
18 | g.31536339G>C | CA402141803 | DSG2 | c.1561G>C (p.Asp521His) c.1027G>C (p.Asp343His) | |
18 | g.31536339G>T | CA402141806 | DSG2 | c.1561G>T (p.Asp521Tyr) c.1027G>T (p.Asp343Tyr) | COSMIC |
18 | g.31536340A= | CA2293861978 | DSG2 | c.1562A= (p.Asp521=) c.1028A= (p.Asp343=) | |
18 | g.31536340A>C | CA402141812 | DSG2 | c.1562A>C (p.Asp521Ala) c.1028A>C (p.Asp343Ala) | |
18 | g.31536340A>G | CA021483 | DSG2 | c.1562A>G (p.Asp521Gly) c.1028A>G (p.Asp343Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.31536340A>T | CA402141810 | DSG2 | c.1562A>T (p.Asp521Val) c.1028A>T (p.Asp343Val) | ClinVar dbSNP gnomAD v4 |
18 | g.31536341T>A | CA402141815 | DSG2 | c.1563T>A (p.Asp521Glu) c.1029T>A (p.Asp343Glu) | |
18 | g.31536341T>C | CA503600746 | DSG2 | c.1563T>C (p.Asp521=) c.1029T>C (p.Asp343=) | |
18 | g.31536341T>G | CA402141816 | DSG2 | c.1563T>G (p.Asp521Glu) c.1029T>G (p.Asp343Glu) | |
18 | g.31536342G>A | CA402141818 | DSG2 | c.1564G>A (p.Gly522Arg) c.1030G>A (p.Gly344Arg) | |
18 | g.31536342G>C | CA402141819 | DSG2 | c.1564G>C (p.Gly522Arg) c.1030G>C (p.Gly344Arg) | |
18 | g.31536342G>T | CA402141820 | DSG2 | c.1564G>T (p.Gly522Ter) c.1030G>T (p.Gly344Ter) | |
18 | g.31536343G>A | CA402141822 | DSG2 | c.1565G>A (p.Gly522Glu) c.1031G>A (p.Gly344Glu) |