Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.12296046_12296056delinsCCACAACCGAG | CA1610830999 | EDN1 | c.618_628delinsCCACAACCGAG (p.Thr206=) c.615_625delinsCCACAACCGAG (p.Thr205=) | |
6 | g.12296051_12296060del | CA3638777 | EDN1 | c.623_632del (p.Asn208IlefsTer10) c.620_629del (p.Asn207IlefsTer10) | dbSNP ExAC gnomAD v2 |
6 | g.12296055A>C | CA448427991 | EDN1 | c.627A>C (p.Arg209=) c.624A>C (p.Arg208=) | gnomAD v4 |
6 | g.12296055A>G | CA448427990 | EDN1 | c.627A>G (p.Arg209=) c.624A>G (p.Arg208=) | gnomAD v4 |
6 | g.12296055A>T | CA448427989 | EDN1 | c.627A>T (p.Arg209=) c.624A>T (p.Arg208=) | |
6 | g.12296056G>A | CA362857416 | EDN1 | c.628G>A (p.Ala210Thr) c.625G>A (p.Ala209Thr) | gnomAD v4 |
6 | g.12296056G>C | CA362857417 | EDN1 | c.628G>C (p.Ala210Pro) c.625G>C (p.Ala209Pro) | |
6 | g.12296056G>T | CA362857418 | EDN1 | c.628G>T (p.Ala210Ser) c.625G>T (p.Ala209Ser) | gnomAD v4 |
6 | g.12296057C>A | CA362857419 | EDN1 | c.629C>A (p.Ala210Glu) c.626C>A (p.Ala209Glu) | |
6 | g.12296057C= | CA1610831016 | EDN1 | c.629C= (p.Ala210=) c.626C= (p.Ala209=) | |
6 | g.12296057C>G | CA362857420 | EDN1 | c.629C>G (p.Ala210Gly) c.626C>G (p.Ala209Gly) | |
6 | g.12296057C>T | CA362857421 | EDN1 | c.629C>T (p.Ala210Val) c.626C>T (p.Ala209Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12296058A>C | CA448427992 | EDN1 | c.630A>C (p.Ala210=) c.627A>C (p.Ala209=) | |
6 | g.12296058A>G | CA448427993 | EDN1 | c.630A>G (p.Ala210=) c.627A>G (p.Ala209=) | |
6 | g.12296058A>T | CA448427994 | EDN1 | c.630A>T (p.Ala210=) c.627A>T (p.Ala209=) | |
6 | g.12296059C>A | CA362857422 | EDN1 | c.631C>A (p.His211Asn) c.628C>A (p.His210Asn) | |
6 | g.12296059C>G | CA362857423 | EDN1 | c.631C>G (p.His211Asp) c.628C>G (p.His210Asp) | |
6 | g.12296059C>T | CA362857424 | EDN1 | c.631C>T (p.His211Tyr) c.628C>T (p.His210Tyr) | |
6 | g.12296060A= | CA1610831018 | EDN1 | c.632A= (p.His211=) c.629A= (p.His210=) | |
6 | g.12296060A>C | CA362857426 | EDN1 | c.632A>C (p.His211Pro) c.629A>C (p.His210Pro) | |
6 | g.12296060A>G | CA3638780 | EDN1 | c.632A>G (p.His211Arg) c.629A>G (p.His210Arg) | dbSNP ExAC gnomAD v4 |
6 | g.12296060A>T | CA362857425 | EDN1 | c.632A>T (p.His211Leu) c.629A>T (p.His210Leu) | |
6 | g.12296061T>A | CA362857427 | EDN1 | c.633T>A (p.His211Gln) c.630T>A (p.His210Gln) | |
6 | g.12296061T>C | CA3638781 | EDN1 | c.633T>C (p.His211=) c.630T>C (p.His210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296061T>G | CA362857428 | EDN1 | c.633T>G (p.His211Gln) c.630T>G (p.His210Gln) | dbSNP |
6 | g.12296061T= | CA1610831021 | EDN1 | c.633T= (p.His211=) c.630T= (p.His210=) | |
6 | g.12296062T>A | CA362857429 | EDN1 | c.634T>A (p.Trp212Arg) c.631T>A (p.Trp211Arg) | |
6 | g.12296062T>C | CA3638782 | EDN1 | c.634T>C (p.Trp212Arg) c.631T>C (p.Trp211Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12296062T>G | CA362857430 | EDN1 | c.634T>G (p.Trp212Gly) c.631T>G (p.Trp211Gly) | |
6 | g.12296062T= | CA1610831026 | EDN1 | c.634T= (p.Trp212=) c.631T= (p.Trp211=) | |
6 | g.12296063G>A | CA362857431 | EDN1 | c.635G>A (p.Trp212Ter) c.632G>A (p.Trp211Ter) | |
6 | g.12296063G>C | CA362857432 | EDN1 | c.635G>C (p.Trp212Ser) c.632G>C (p.Trp211Ser) | |
6 | g.12296063G>T | CA362857433 | EDN1 | c.635G>T (p.Trp212Leu) c.632G>T (p.Trp211Leu) | |
6 | g.12296064G>A | CA134218091 | EDN1 | c.636G>A (p.Trp212Ter) c.633G>A (p.Trp211Ter) | dbSNP gnomAD v4 |
6 | g.12296064G>C | CA3638783 | EDN1 | c.636G>C (p.Trp212Cys) c.633G>C (p.Trp211Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296064G= | CA1610831029 | EDN1 | c.636G= (p.Trp212=) c.633G= (p.Trp211=) | |
6 | g.12296064G>T | CA362857434 | EDN1 | c.636G>T (p.Trp212Cys) c.633G>T (p.Trp211Cys) | |
6 | g.12296065T>A | CA3638784 | EDN1 | c.637T>A (p.Ter213Arg) c.634T>A (p.Ter212Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12296065T>C | CA362857435 | EDN1 | c.637T>C (p.Ter213Arg) c.634T>C (p.Ter212Arg) | |
6 | g.12296065T>G | CA362857436 | EDN1 | c.637T>G (p.Ter213Gly) c.634T>G (p.Ter212Gly) | |
6 | g.12296065T= | CA1610831035 | EDN1 | c.637T= (p.Ter213=) c.634T= (p.Ter212=) | |
6 | g.12296066G>A | CA448427995 | EDN1 | c.638G>A (p.Ter213=) c.635G>A (p.Ter212=) | |
6 | g.12296066G>C | CA362857437 | EDN1 | c.638G>C (p.Ter213Ser) c.635G>C (p.Ter212Ser) | |
6 | g.12296066G>T | CA362857438 | EDN1 | c.638G>T (p.Ter213Leu) c.635G>T (p.Ter212Leu) | |
6 | g.12296067A= | CA1610831038 | EDN1 | c.639A= (p.Ter213=) c.636A= (p.Ter212=) | |
6 | g.12296067A>C | CA362857439 | EDN1 | c.639A>C (p.Ter213Cys) c.636A>C (p.Ter212Cys) | |
6 | g.12296067A>G | CA362857440 | EDN1 | c.639A>G (p.Ter213Trp) c.636A>G (p.Ter212Trp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12296067A>T | CA362857441 | EDN1 | c.639A>T (p.Ter213Cys) c.636A>T (p.Ter212Cys) | |
6 | g.12296070_12296071insGCCCCGAAGGTCTGTC | CA2677350378 | EDN1 | c.*3_*4insGCCCCGAAGGTCTGTC (n.*3_*4insGCCCCGAAGGTCTGTC) | gnomAD v4 |
6 | g.12296071dup | CA650509208 | EDN1 | c.*4dup (n.*4dup) | COSMIC |