| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 6 | g.12295978A>G | CA362857253 | EDN1 | c.550A>G (p.Asn184Asp) c.547A>G (p.Asn183Asp) | |
| 6 | g.12295978A>T | CA362857254 | EDN1 | c.550A>T (p.Asn184Tyr) c.547A>T (p.Asn183Tyr) | |
| 6 | g.12295979A>C | CA362857257 | EDN1 | c.551A>C (p.Asn184Thr) c.548A>C (p.Asn183Thr) | |
| 6 | g.12295979A>G | CA362857256 | EDN1 | c.551A>G (p.Asn184Ser) c.548A>G (p.Asn183Ser) | |
| 6 | g.12295979A>T | CA362857255 | EDN1 | c.551A>T (p.Asn184Ile) c.548A>T (p.Asn183Ile) | |
| 6 | g.12295980_12295981del | CA2677350377 | EDN1 | c.552_553del (p.Asn184LysfsTer8) c.549_550del (p.Asn183LysfsTer8) | gnomAD v4 |
| 6 | g.12295980C>A | CA362857258 | EDN1 | c.552C>A (p.Asn184Lys) c.549C>A (p.Asn183Lys) | |
| 6 | g.12295980C>G | CA362857259 | EDN1 | c.552C>G (p.Asn184Lys) c.549C>G (p.Asn183Lys) | |
| 6 | g.12295980C>T | CA448427941 | EDN1 | c.552C>T (p.Asn184=) c.549C>T (p.Asn183=) | |
| 6 | g.12295981A>C | CA362857260 | EDN1 | c.553A>C (p.Ser185Arg) c.550A>C (p.Ser184Arg) | |
| 6 | g.12295981A>G | CA362857261 | EDN1 | c.553A>G (p.Ser185Gly) c.550A>G (p.Ser184Gly) | |
| 6 | g.12295981A>T | CA362857262 | EDN1 | c.553A>T (p.Ser185Cys) c.550A>T (p.Ser184Cys) | |
| 6 | g.12295982G>A | CA362857263 | EDN1 | c.554G>A (p.Ser185Asn) c.551G>A (p.Ser184Asn) | |
| 6 | g.12295982G>C | CA362857264 | EDN1 | c.554G>C (p.Ser185Thr) c.551G>C (p.Ser184Thr) | |
| 6 | g.12295982G>T | CA362857265 | EDN1 | c.554G>T (p.Ser185Ile) c.551G>T (p.Ser184Ile) | |
| 6 | g.12295983C>A | CA362857266 | EDN1 | c.555C>A (p.Ser185Arg) c.552C>A (p.Ser184Arg) | gnomAD v4 |
| 6 | g.12295983C= | CA1610830877 | EDN1 | c.555C= (p.Ser185=) c.552C= (p.Ser184=) | |
| 6 | g.12295983C>G | CA362857267 | EDN1 | c.555C>G (p.Ser185Arg) c.552C>G (p.Ser184Arg) | |
| 6 | g.12295983C>T | CA134218069 | EDN1 | c.555C>T (p.Ser185=) c.552C>T (p.Ser184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295984G>A | CA3638763 | EDN1 | c.556G>A (p.Val186Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295984G>C | CA362857268 | EDN1 | c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) | gnomAD v4 |
| 6 | g.12295984G= | CA1610830882 | EDN1 | c.556G= (p.Val186=) c.553G= (p.Val185=) | |
| 6 | g.12295984G>T | CA362857269 | EDN1 | c.556G>T (p.Val186Phe) c.553G>T (p.Val185Phe) | |
| 6 | g.12295985T>A | CA362857270 | EDN1 | c.557T>A (p.Val186Asp) c.554T>A (p.Val185Asp) | COSMIC |
| 6 | g.12295985T>C | CA362857272 | EDN1 | c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) |