| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12295964C>A | CA362857221 | EDN1 | c.536C>A (p.Ser179Ter) c.533C>A (p.Ser178Ter) | dbSNP gnomAD v4 |
| 6 | g.12295964C= | CA1610830853 | EDN1 | c.536C= (p.Ser179=) c.533C= (p.Ser178=) | |
| 6 | g.12295964C>G | CA362857222 | EDN1 | c.536C>G (p.Ser179Trp) c.533C>G (p.Ser178Trp) | |
| 6 | g.12295964C>T | CA3638759 | EDN1 | c.536C>T (p.Ser179Leu) c.533C>T (p.Ser178Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295965G>A | CA3638760 | EDN1 | c.537G>A (p.Ser179=) c.534G>A (p.Ser178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295965G>C | CA448427933 | EDN1 | c.537G>C (p.Ser179=) c.534G>C (p.Ser178=) | |
| 6 | g.12295965G= | CA1610830857 | EDN1 | c.537G= (p.Ser179=) c.534G= (p.Ser178=) | |
| 6 | g.12295965G>T | CA448427934 | EDN1 | c.537G>T (p.Ser179=) c.534G>T (p.Ser178=) | |
| 6 | g.12295966G>A | CA362857225 | EDN1 | c.538G>A (p.Glu180Lys) c.535G>A (p.Glu179Lys) | |
| 6 | g.12295966G>C | CA362857224 | EDN1 | c.538G>C (p.Glu180Gln) c.535G>C (p.Glu179Gln) | |
| 6 | g.12295966G>T | CA362857223 | EDN1 | c.538G>T (p.Glu180Ter) c.535G>T (p.Glu179Ter) | |
| 6 | g.12295967A>C | CA362857227 | EDN1 | c.539A>C (p.Glu180Ala) c.536A>C (p.Glu179Ala) | |
| 6 | g.12295967A>G | CA362857226 | EDN1 | c.539A>G (p.Glu180Gly) c.536A>G (p.Glu179Gly) | |
| 6 | g.12295967A>T | CA362857228 | EDN1 | c.539A>T (p.Glu180Val) c.536A>T (p.Glu179Val) | |
| 6 | g.12295968G>A | CA448427935 | EDN1 | c.540G>A (p.Glu180=) c.537G>A (p.Glu179=) | COSMIC |
| 6 | g.12295968G>C | CA362857229 | EDN1 | c.540G>C (p.Glu180Asp) c.537G>C (p.Glu179Asp) | |
| 6 | g.12295968G= | CA1610830863 | EDN1 | c.540G= (p.Glu180=) c.537G= (p.Glu179=) | |
| 6 | g.12295968G>T | CA362857230 | EDN1 | c.540G>T (p.Glu180Asp) c.537G>T (p.Glu179Asp) | dbSNP gnomAD v2 |
| 6 | g.12295969A>C | CA362857231 | EDN1 | c.541A>C (p.Thr181Pro) c.538A>C (p.Thr180Pro) | |
| 6 | g.12295969A>G | CA362857232 | EDN1 | c.541A>G (p.Thr181Ala) c.538A>G (p.Thr180Ala) | |
| 6 | g.12295969A>T | CA362857233 | EDN1 | c.541A>T (p.Thr181Ser) c.538A>T (p.Thr180Ser) | |
| 6 | g.12295970C>A | CA362857234 | EDN1 | c.542C>A (p.Thr181Asn) c.539C>A (p.Thr180Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295970C= | CA1610830865 | EDN1 | c.542C= (p.Thr181=) c.539C= (p.Thr180=) | |
| 6 | g.12295970C>G | CA362857235 | EDN1 | c.542C>G (p.Thr181Ser) c.539C>G (p.Thr180Ser) | dbSNP |
| 6 | g.12295970C>T | CA362857236 | EDN1 | c.542C>T (p.Thr181Ile) c.539C>T (p.Thr180Ile) | |
| 6 | g.12295971C>A | CA3638761 | EDN1 | c.543C>A (p.Thr181=) c.540C>A (p.Thr180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295971C= | CA1610830868 | EDN1 | c.543C= (p.Thr181=) c.540C= (p.Thr180=) | |
| 6 | g.12295971C>G | CA448427937 | EDN1 | c.543C>G (p.Thr181=) c.540C>G (p.Thr180=) | |
| 6 | g.12295971C>T | CA448427938 | EDN1 | c.543C>T (p.Thr181=) c.540C>T (p.Thr180=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295972A= | CA1610830870 | EDN1 | c.544A= (p.Met182=) c.541A= (p.Met181=) | |
| 6 | g.12295972A>C | CA3638762 | EDN1 | c.544A>C (p.Met182Leu) c.541A>C (p.Met181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295972A>G | CA362857237 | EDN1 | c.544A>G (p.Met182Val) c.541A>G (p.Met181Val) | |
| 6 | g.12295972A>T | CA362857238 | EDN1 | c.544A>T (p.Met182Leu) c.541A>T (p.Met181Leu) | |
| 6 | g.12295973T>A | CA362857239 | EDN1 | c.545T>A (p.Met182Lys) c.542T>A (p.Met181Lys) | |
| 6 | g.12295973T>C | CA362857240 | EDN1 | c.545T>C (p.Met182Thr) c.542T>C (p.Met181Thr) | gnomAD v4 |
| 6 | g.12295973T>G | CA362857241 | EDN1 | c.545T>G (p.Met182Arg) c.542T>G (p.Met181Arg) | |
| 6 | g.12295974G>A | CA362857242 | EDN1 | c.546G>A (p.Met182Ile) c.543G>A (p.Met181Ile) | COSMIC |
| 6 | g.12295974G>C | CA362857244 | EDN1 | c.546G>C (p.Met182Ile) c.543G>C (p.Met181Ile) | gnomAD v4 |
| 6 | g.12295974G>T | CA362857243 | EDN1 | c.546G>T (p.Met182Ile) c.543G>T (p.Met181Ile) | |
| 6 | g.12295975A>C | CA448427939 | EDN1 | c.547A>C (p.Arg183=) c.544A>C (p.Arg182=) | |
| 6 | g.12295975A>G | CA362857245 | EDN1 | c.547A>G (p.Arg183Gly) c.544A>G (p.Arg182Gly) | |
| 6 | g.12295975A>T | CA362857246 | EDN1 | c.547A>T (p.Arg183Ter) c.544A>T (p.Arg182Ter) | |
| 6 | g.12295976G>A | CA362857247 | EDN1 | c.548G>A (p.Arg183Lys) c.545G>A (p.Arg182Lys) | dbSNP COSMIC |
| 6 | g.12295976G>C | CA362857248 | EDN1 | c.548G>C (p.Arg183Thr) c.545G>C (p.Arg182Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295976G= | CA1610830874 | EDN1 | c.548G= (p.Arg183=) c.545G= (p.Arg182=) | |
| 6 | g.12295976G>T | CA362857249 | EDN1 | c.548G>T (p.Arg183Ile) c.545G>T (p.Arg182Ile) | |
| 6 | g.12295977A>C | CA362857250 | EDN1 | c.549A>C (p.Arg183Ser) c.546A>C (p.Arg182Ser) | |
| 6 | g.12295977A>G | CA448427940 | EDN1 | c.549A>G (p.Arg183=) c.546A>G (p.Arg182=) | |
| 6 | g.12295977A>T | CA362857251 | EDN1 | c.549A>T (p.Arg183Ser) c.546A>T (p.Arg182Ser) | |
| 6 | g.12295978A>C | CA362857252 | EDN1 | c.550A>C (p.Asn184His) c.547A>C (p.Asn183His) |