| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12292372_12292383del | CA2582343059 | EDN1 | c.96_107del (p.Glu33_Gly36del) c.93_104del (p.Glu32_Gly35del) | |
| 6 | g.12292377A>C | CA362856219 | EDN1 | c.101A>C (p.Asn34Thr) c.98A>C (p.Asn33Thr) | |
| 6 | g.12292377A>G | CA362856220 | EDN1 | c.101A>G (p.Asn34Ser) c.98A>G (p.Asn33Ser) | |
| 6 | g.12292377A>T | CA362856221 | EDN1 | c.101A>T (p.Asn34Ile) c.98A>T (p.Asn33Ile) | |
| 6 | g.12292378C>A | CA362856222 | EDN1 | c.102C>A (p.Asn34Lys) c.99C>A (p.Asn33Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292378C= | CA1610843779 | EDN1 | c.102C= (p.Asn34=) c.99C= (p.Asn33=) | |
| 6 | g.12292378C>G | CA362856223 | EDN1 | c.102C>G (p.Asn34Lys) c.99C>G (p.Asn33Lys) | |
| 6 | g.12292378C>T | CA448427657 | EDN1 | c.102C>T (p.Asn34=) c.99C>T (p.Asn33=) | gnomAD v4 |
| 6 | g.12292378dup | CA2677349986 | EDN1 | c.102dup (p.Gly35ArgfsTer27) c.99dup (p.Gly34ArgfsTer27) | gnomAD v4 |
| 6 | g.12292379G>A | CA3638622 | EDN1 | c.103G>A (p.Gly35Ser) c.100G>A (p.Gly34Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292379G>C | CA3638623 | EDN1 | c.103G>C (p.Gly35Arg) c.100G>C (p.Gly34Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292379G= | CA1610843782 | EDN1 | c.103G= (p.Gly35=) c.100G= (p.Gly34=) | |
| 6 | g.12292379G>T | CA362856224 | EDN1 | c.103G>T (p.Gly35Cys) c.100G>T (p.Gly34Cys) | |
| 6 | g.12292380G>A | CA362856225 | EDN1 | c.104G>A (p.Gly35Asp) c.101G>A (p.Gly34Asp) | gnomAD v4 |
| 6 | g.12292380G>C | CA362856227 | EDN1 | c.104G>C (p.Gly35Ala) c.101G>C (p.Gly34Ala) | |
| 6 | g.12292380G>T | CA362856226 | EDN1 | c.104G>T (p.Gly35Val) c.101G>T (p.Gly34Val) | |
| 6 | g.12292381C>A | CA448427658 | EDN1 | c.105C>A (p.Gly35=) c.102C>A (p.Gly34=) | |
| 6 | g.12292381C= | CA1610843785 | EDN1 | c.105C= (p.Gly35=) c.102C= (p.Gly34=) | |
| 6 | g.12292381C>G | CA448427659 | EDN1 | c.105C>G (p.Gly35=) c.102C>G (p.Gly34=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292381C>T | CA448427660 | EDN1 | c.105C>T (p.Gly35=) c.102C>T (p.Gly34=) | dbSNP gnomAD v4 |
| 6 | g.12292382G>A | CA3638624 | EDN1 | c.106G>A (p.Gly36Arg) c.103G>A (p.Gly35Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292382G>C | CA3638625 | EDN1 | c.106G>C (p.Gly36Arg) c.103G>C (p.Gly35Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292382G= | CA1610843793 | EDN1 | c.106G= (p.Gly36=) c.103G= (p.Gly35=) | |
| 6 | g.12292382G>T | CA362856228 | EDN1 | c.106G>T (p.Gly36Trp) c.103G>T (p.Gly35Trp) | gnomAD v4 |
| 6 | g.12292385dup | CA1610843791 | EDN1 | c.109dup (p.Glu37GlyfsTer25) c.106dup (p.Glu36GlyfsTer25) | dbSNP |
| 6 | g.12292383G>A | CA362856229 | EDN1 | c.107G>A (p.Gly36Glu) c.104G>A (p.Gly35Glu) | |
| 6 | g.12292383G>C | CA362856230 | EDN1 | c.107G>C (p.Gly36Ala) c.104G>C (p.Gly35Ala) | |
| 6 | g.12292383G>T | CA362856231 | EDN1 | c.107G>T (p.Gly36Val) c.104G>T (p.Gly35Val) | |
| 6 | g.12292384G>A | CA448427663 | EDN1 | c.108G>A (p.Gly36=) c.105G>A (p.Gly35=) | dbSNP |
| 6 | g.12292384G>C | CA448427661 | EDN1 | c.108G>C (p.Gly36=) c.105G>C (p.Gly35=) | |
| 6 | g.12292384G= | CA1610843800 | EDN1 | c.108G= (p.Gly36=) c.105G= (p.Gly35=) | |
| 6 | g.12292384G>T | CA448427662 | EDN1 | c.108G>T (p.Gly36=) c.105G>T (p.Gly35=) | |
| 6 | g.12292385G>A | CA362856234 | EDN1 | c.109G>A (p.Glu37Lys) c.106G>A (p.Glu36Lys) | |
| 6 | g.12292385G>C | CA362856232 | EDN1 | c.109G>C (p.Glu37Gln) c.106G>C (p.Glu36Gln) | |
| 6 | g.12292385G>T | CA362856233 | EDN1 | c.109G>T (p.Glu37Ter) c.106G>T (p.Glu36Ter) | |
| 6 | g.12292386A= | CA1610843803 | EDN1 | c.110A= (p.Glu37=) c.107A= (p.Glu36=) | |
| 6 | g.12292386A>C | CA362856235 | EDN1 | c.110A>C (p.Glu37Ala) c.107A>C (p.Glu36Ala) | |
| 6 | g.12292386A>G | CA3638626 | EDN1 | c.110A>G (p.Glu37Gly) c.107A>G (p.Glu36Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292386A>T | CA362856236 | EDN1 | c.110A>T (p.Glu37Val) c.107A>T (p.Glu36Val) | |
| 6 | g.12292387G>A | CA448427664 | EDN1 | c.111G>A (p.Glu37=) c.108G>A (p.Glu36=) | |
| 6 | g.12292387G>C | CA362856237 | EDN1 | c.111G>C (p.Glu37Asp) c.108G>C (p.Glu36Asp) | |
| 6 | g.12292387G>T | CA362856238 | EDN1 | c.111G>T (p.Glu37Asp) c.108G>T (p.Glu36Asp) | |
| 6 | g.12292388A= | CA1610843806 | EDN1 | c.112A= (p.Lys38=) c.109A= (p.Lys37=) | |
| 6 | g.12292388A>C | CA362856239 | EDN1 | c.112A>C (p.Lys38Gln) c.109A>C (p.Lys37Gln) | |
| 6 | g.12292388A>G | CA3638627 | EDN1 | c.112A>G (p.Lys38Glu) c.109A>G (p.Lys37Glu) | dbSNP ExAC gnomAD v2 |
| 6 | g.12292388A>T | CA362856240 | EDN1 | c.112A>T (p.Lys38Ter) c.109A>T (p.Lys37Ter) | |
| 6 | g.12292389A>C | CA362856241 | EDN1 | c.113A>C (p.Lys38Thr) c.110A>C (p.Lys37Thr) | |
| 6 | g.12292389A>G | CA362856242 | EDN1 | c.113A>G (p.Lys38Arg) c.110A>G (p.Lys37Arg) | |
| 6 | g.12292389A>T | CA362856243 | EDN1 | c.113A>T (p.Lys38Ile) c.110A>T (p.Lys37Ile) | gnomAD v4 |
| 6 | g.12292390A= | CA1610843810 | EDN1 | c.114A= (p.Lys38=) c.111A= (p.Lys37=) | |
| 6 | g.12292390A>C | CA362856244 | EDN1 | c.114A>C (p.Lys38Asn) c.111A>C (p.Lys37Asn) | dbSNP |
| 6 | g.12292390A>G | CA448427665 | EDN1 | c.114A>G (p.Lys38=) c.111A>G (p.Lys37=) | |
| 6 | g.12292390A>T | CA362856245 | EDN1 | c.114A>T (p.Lys38Asn) c.111A>T (p.Lys37Asn) | |
| 6 | g.12292391C>A | CA3638628 | EDN1 | c.115C>A (p.Pro39Thr) c.112C>A (p.Pro38Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292391C= | CA1610843816 | EDN1 | c.115C= (p.Pro39=) c.112C= (p.Pro38=) | |
| 6 | g.12292391C>G | CA362856246 | EDN1 | c.115C>G (p.Pro39Ala) c.112C>G (p.Pro38Ala) | |
| 6 | g.12292391C>T | CA362856247 | EDN1 | c.115C>T (p.Pro39Ser) c.112C>T (p.Pro38Ser) | |
| 6 | g.12292392C>A | CA362856248 | EDN1 | c.116C>A (p.Pro39His) c.113C>A (p.Pro38His) | |
| 6 | g.12292392C>G | CA362856249 | EDN1 | c.116C>G (p.Pro39Arg) c.113C>G (p.Pro38Arg) | |
| 6 | g.12292392C>T | CA362856250 | EDN1 | c.116C>T (p.Pro39Leu) c.113C>T (p.Pro38Leu) | |
| 6 | g.12292393C>A | CA448427666 | EDN1 | c.117C>A (p.Pro39=) c.114C>A (p.Pro38=) | |
| 6 | g.12292393C>G | CA448427667 | EDN1 | c.117C>G (p.Pro39=) c.114C>G (p.Pro38=) | |
| 6 | g.12292393C>T | CA448427668 | EDN1 | c.117C>T (p.Pro39=) c.114C>T (p.Pro38=) | |
| 6 | g.12292394A= | CA1610843823 | EDN1 | c.118A= (p.Thr40=) c.115A= (p.Thr39=) | |
| 6 | g.12292394A>C | CA362856251 | EDN1 | c.118A>C (p.Thr40Pro) c.115A>C (p.Thr39Pro) | |
| 6 | g.12292394A>G | CA362856253 | EDN1 | c.118A>G (p.Thr40Ala) c.115A>G (p.Thr39Ala) | dbSNP gnomAD v4 |
| 6 | g.12292394A>T | CA362856252 | EDN1 | c.118A>T (p.Thr40Ser) c.115A>T (p.Thr39Ser) | |
| 6 | g.12292394_12292395insAC | CA2770023739 | EDN1 | c.118_119insAC (p.Thr40AsnfsTer20) c.115_116insAC (p.Thr39AsnfsTer20) | |
| 6 | g.12292395C>A | CA3638630 | EDN1 | c.119C>A (p.Thr40Asn) c.116C>A (p.Thr39Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292395C= | CA1610843824 | EDN1 | c.119C= (p.Thr40=) c.116C= (p.Thr39=) | |
| 6 | g.12292395C>G | CA3638631 | EDN1 | c.119C>G (p.Thr40Ser) c.116C>G (p.Thr39Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292395C>T | CA3638629 | EDN1 | c.119C>T (p.Thr40Ile) c.116C>T (p.Thr39Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292396T>A | CA448427669 | EDN1 | c.120T>A (p.Thr40=) c.117T>A (p.Thr39=) | |
| 6 | g.12292396T>C | CA448427670 | EDN1 | c.120T>C (p.Thr40=) c.117T>C (p.Thr39=) | |
| 6 | g.12292396T>G | CA448427671 | EDN1 | c.120T>G (p.Thr40=) c.117T>G (p.Thr39=) | |
| 6 | g.12292397C>A | CA362856254 | EDN1 | c.121C>A (p.Pro41Thr) c.118C>A (p.Pro40Thr) | |
| 6 | g.12292397C= | CA1610843829 | EDN1 | c.121C= (p.Pro41=) c.118C= (p.Pro40=) | |
| 6 | g.12292397C>G | CA362856255 | EDN1 | c.121C>G (p.Pro41Ala) c.118C>G (p.Pro40Ala) | |
| 6 | g.12292397C>T | CA134217349 | EDN1 | c.121C>T (p.Pro41Ser) c.118C>T (p.Pro40Ser) | dbSNP |
| 6 | g.12292398C>A | CA362856256 | EDN1 | c.122C>A (p.Pro41His) c.119C>A (p.Pro40His) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292398C= | CA1610843833 | EDN1 | c.122C= (p.Pro41=) c.119C= (p.Pro40=) | |
| 6 | g.12292398C>G | CA362856257 | EDN1 | c.122C>G (p.Pro41Arg) c.119C>G (p.Pro40Arg) | |
| 6 | g.12292398C>T | CA362856258 | EDN1 | c.122C>T (p.Pro41Leu) c.119C>T (p.Pro40Leu) | |
| 6 | g.12292399C>A | CA448427672 | EDN1 | c.123C>A (p.Pro41=) c.120C>A (p.Pro40=) | |
| 6 | g.12292399C= | CA1610843834 | EDN1 | c.123C= (p.Pro41=) c.120C= (p.Pro40=) | |
| 6 | g.12292399C>G | CA448427673 | EDN1 | c.123C>G (p.Pro41=) c.120C>G (p.Pro40=) | dbSNP gnomAD v4 |
| 6 | g.12292399C>T | CA134217351 | EDN1 | c.123C>T (p.Pro41=) c.120C>T (p.Pro40=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292400A= | CA1610843836 | EDN1 | c.124A= (p.Ser42=) c.121A= (p.Ser41=) | |
| 6 | g.12292400A>C | CA134217353 | EDN1 | c.124A>C (p.Ser42Arg) c.121A>C (p.Ser41Arg) | dbSNP |
| 6 | g.12292400A>G | CA362856259 | EDN1 | c.124A>G (p.Ser42Gly) c.121A>G (p.Ser41Gly) | COSMIC |
| 6 | g.12292400A>T | CA3638632 | EDN1 | c.124A>T (p.Ser42Cys) c.121A>T (p.Ser41Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292401G>A | CA362856262 | EDN1 | c.125G>A (p.Ser42Asn) c.122G>A (p.Ser41Asn) | |
| 6 | g.12292401G>C | CA362856261 | EDN1 | c.125G>C (p.Ser42Thr) c.122G>C (p.Ser41Thr) | |
| 6 | g.12292401G>T | CA362856260 | EDN1 | c.125G>T (p.Ser42Ile) c.122G>T (p.Ser41Ile) | COSMIC |
| 6 | g.12292402T>A | CA362856263 | EDN1 | c.126T>A (p.Ser42Arg) c.123T>A (p.Ser41Arg) | dbSNP |
| 6 | g.12292402T>C | CA448427674 | EDN1 | c.126T>C (p.Ser42=) c.123T>C (p.Ser41=) | |
| 6 | g.12292402T>G | CA362856264 | EDN1 | c.126T>G (p.Ser42Arg) c.123T>G (p.Ser41Arg) | gnomAD v4 |
| 6 | g.12292402T= | CA1610843839 | EDN1 | c.126T= (p.Ser42=) c.123T= (p.Ser41=) | |
| 6 | g.12292403C>A | CA362856265 | EDN1 | c.127C>A (p.Pro43Thr) c.124C>A (p.Pro42Thr) | |
| 6 | g.12292403C>G | CA362856266 | EDN1 | c.127C>G (p.Pro43Ala) c.124C>G (p.Pro42Ala) | |
| 6 | g.12292403C>T | CA362856267 | EDN1 | c.127C>T (p.Pro43Ser) c.124C>T (p.Pro42Ser) | |
| 6 | g.12292403_12292404insACACCCAACA | CA2770023740 | EDN1 | c.127_128insACACCCAACA (p.Pro43HisfsTer22) c.124_125insACACCCAACA (p.Pro42HisfsTer22) | |
| 6 | g.12292404C>A | CA362856268 | EDN1 | c.128C>A (p.Pro43Gln) c.125C>A (p.Pro42Gln) | |
| 6 | g.12292404C= | CA1610843840 | EDN1 | c.128C= (p.Pro43=) c.125C= (p.Pro42=) | |
| 6 | g.12292404C>G | CA362856269 | EDN1 | c.128C>G (p.Pro43Arg) c.125C>G (p.Pro42Arg) | |
| 6 | g.12292404C>T | CA362856270 | EDN1 | c.128C>T (p.Pro43Leu) c.125C>T (p.Pro42Leu) | dbSNP |
| 6 | g.12292405A= | CA1610843843 | EDN1 | c.129A= (p.Pro43=) c.126A= (p.Pro42=) | |
| 6 | g.12292405A>C | CA448427675 | EDN1 | c.129A>C (p.Pro43=) c.126A>C (p.Pro42=) | dbSNP |
| 6 | g.12292405A>G | CA448427676 | EDN1 | c.129A>G (p.Pro43=) c.126A>G (p.Pro42=) | |
| 6 | g.12292405A>T | CA448427677 | EDN1 | c.129A>T (p.Pro43=) c.126A>T (p.Pro42=) | |
| 6 | g.12292406C>A | CA362856271 | EDN1 | c.130C>A (p.Pro44Thr) c.127C>A (p.Pro43Thr) | |
| 6 | g.12292406C= | CA1610843846 | EDN1 | c.130C= (p.Pro44=) c.127C= (p.Pro43=) | |
| 6 | g.12292406C>G | CA362856272 | EDN1 | c.130C>G (p.Pro44Ala) c.127C>G (p.Pro43Ala) | |
| 6 | g.12292406C>T | CA3638633 | EDN1 | c.130C>T (p.Pro44Ser) c.127C>T (p.Pro43Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292407C>A | CA362856273 | EDN1 | c.131C>A (p.Pro44His) c.128C>A (p.Pro43His) | |
| 6 | g.12292407C= | CA1610843852 | EDN1 | c.131C= (p.Pro44=) c.128C= (p.Pro43=) | |
| 6 | g.12292407C>G | CA362856274 | EDN1 | c.131C>G (p.Pro44Arg) c.128C>G (p.Pro43Arg) | |
| 6 | g.12292407C>T | CA362856275 | EDN1 | c.131C>T (p.Pro44Leu) c.128C>T (p.Pro43Leu) | dbSNP gnomAD v4 |
| 6 | g.12292408C>A | CA448427678 | EDN1 | c.132C>A (p.Pro44=) c.129C>A (p.Pro43=) | |
| 6 | g.12292408C>G | CA448427679 | EDN1 | c.132C>G (p.Pro44=) c.129C>G (p.Pro43=) | |
| 6 | g.12292408C>T | CA448427680 | EDN1 | c.132C>T (p.Pro44=) c.129C>T (p.Pro43=) | |
| 6 | g.12292409T>A | CA362856278 | EDN1 | c.133T>A (p.Trp45Arg) c.130T>A (p.Trp44Arg) | |
| 6 | g.12292409T>C | CA362856277 | EDN1 | c.133T>C (p.Trp45Arg) c.130T>C (p.Trp44Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292409T>G | CA362856276 | EDN1 | c.133T>G (p.Trp45Gly) c.130T>G (p.Trp44Gly) | |
| 6 | g.12292409T= | CA1610843857 | EDN1 | c.133T= (p.Trp45=) c.130T= (p.Trp44=) | |
| 6 | g.12292410G>A | CA362856279 | EDN1 | c.134G>A (p.Trp45Ter) c.131G>A (p.Trp44Ter) | |
| 6 | g.12292410G>C | CA362856280 | EDN1 | c.134G>C (p.Trp45Ser) c.131G>C (p.Trp44Ser) | |
| 6 | g.12292410G>T | CA362856281 | EDN1 | c.134G>T (p.Trp45Leu) c.131G>T (p.Trp44Leu) | |
| 6 | g.12292411G>A | CA362856282 | EDN1 | c.135G>A (p.Trp45Ter) c.132G>A (p.Trp44Ter) | |
| 6 | g.12292411G>C | CA362856283 | EDN1 | c.135G>C (p.Trp45Cys) c.132G>C (p.Trp44Cys) | dbSNP |
| 6 | g.12292411G= | CA1610843861 | EDN1 | c.135G= (p.Trp45=) c.132G= (p.Trp44=) | |
| 6 | g.12292411G>T | CA362856284 | EDN1 | c.135G>T (p.Trp45Cys) c.132G>T (p.Trp44Cys) | |
| 6 | g.12292412C>A | CA3638634 | EDN1 | c.136C>A (p.Arg46=) c.133C>A (p.Arg45=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292412C= | CA1610843865 | EDN1 | c.136C= (p.Arg46=) c.133C= (p.Arg45=) | |
| 6 | g.12292412C>G | CA362856285 | EDN1 | c.136C>G (p.Arg46Gly) c.133C>G (p.Arg45Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292412C>T | CA3638635 | EDN1 | c.136C>T (p.Arg46Trp) c.133C>T (p.Arg45Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292413G>A | CA362856286 | EDN1 | c.137G>A (p.Arg46Gln) c.134G>A (p.Arg45Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.12292413G>C | CA362856287 | EDN1 | c.137G>C (p.Arg46Pro) c.134G>C (p.Arg45Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292413G= | CA1610843872 | EDN1 | c.137G= (p.Arg46=) c.134G= (p.Arg45=) | |
| 6 | g.12292413G>T | CA362856288 | EDN1 | c.137G>T (p.Arg46Leu) c.134G>T (p.Arg45Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.12292413_12292433delinsGGCTCCGCCGGTCCAAGCGCT | CA1610843871 | EDN1 | c.137_157delinsGGCTCCGCCGGTCCAAGCGCT (p.Arg46=) c.134_154delinsGGCTCCGCCGGTCCAAGCGCT (p.Arg45=) | |
| 6 | g.12292414G>A | CA448427681 | EDN1 | c.138G>A (p.Arg46=) c.135G>A (p.Arg45=) | |
| 6 | g.12292414G>C | CA448427682 | EDN1 | c.138G>C (p.Arg46=) c.135G>C (p.Arg45=) | |
| 6 | g.12292414G>T | CA448427683 | EDN1 | c.138G>T (p.Arg46=) c.135G>T (p.Arg45=) | |
| 6 | g.12292419_12292438del | CA3638636 | EDN1 | c.143_162del (p.Arg48LeufsTer7) c.140_159del (p.Arg47LeufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292415C>A | CA362856291 | EDN1 | c.139C>A (p.Leu47Ile) c.136C>A (p.Leu46Ile) | |
| 6 | g.12292415C>G | CA362856289 | EDN1 | c.139C>G (p.Leu47Val) c.136C>G (p.Leu46Val) | gnomAD v4 |
| 6 | g.12292415C>T | CA362856290 | EDN1 | c.139C>T (p.Leu47Phe) c.136C>T (p.Leu46Phe) | |
| 6 | g.12292416T>A | CA362856292 | EDN1 | c.140T>A (p.Leu47His) c.137T>A (p.Leu46His) | |
| 6 | g.12292416T>C | CA362856293 | EDN1 | c.140T>C (p.Leu47Pro) c.137T>C (p.Leu46Pro) | |
| 6 | g.12292416T>G | CA362856294 | EDN1 | c.140T>G (p.Leu47Arg) c.137T>G (p.Leu46Arg) | |
| 6 | g.12292417C>A | CA448427684 | EDN1 | c.141C>A (p.Leu47=) c.138C>A (p.Leu46=) | |
| 6 | g.12292417C= | CA1610843876 | EDN1 | c.141C= (p.Leu47=) c.138C= (p.Leu46=) | |
| 6 | g.12292417C>G | CA448427685 | EDN1 | c.141C>G (p.Leu47=) c.138C>G (p.Leu46=) | |
| 6 | g.12292417C>T | CA3638637 | EDN1 | c.141C>T (p.Leu47=) c.138C>T (p.Leu46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292418C>A | CA362856295 | EDN1 | c.142C>A (p.Arg48Ser) c.139C>A (p.Arg47Ser) | |
| 6 | g.12292418C= | CA1610843879 | EDN1 | c.142C= (p.Arg48=) c.139C= (p.Arg47=) | |
| 6 | g.12292418C>G | CA362856296 | EDN1 | c.142C>G (p.Arg48Gly) c.139C>G (p.Arg47Gly) | gnomAD v4 |
| 6 | g.12292418C>T | CA362856297 | EDN1 | c.142C>T (p.Arg48Cys) c.139C>T (p.Arg47Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292419G>A | CA3638639 | EDN1 | c.143G>A (p.Arg48His) c.140G>A (p.Arg47His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292419G>C | CA362856298 | EDN1 | c.143G>C (p.Arg48Pro) c.140G>C (p.Arg47Pro) | |
| 6 | g.12292419G= | CA1610843882 | EDN1 | c.143G= (p.Arg48=) c.140G= (p.Arg47=) | |
| 6 | g.12292419G>T | CA3638638 | EDN1 | c.143G>T (p.Arg48Leu) c.140G>T (p.Arg47Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292420C>A | CA448427686 | EDN1 | c.144C>A (p.Arg48=) c.141C>A (p.Arg47=) | |
| 6 | g.12292420C>G | CA448427687 | EDN1 | c.144C>G (p.Arg48=) c.141C>G (p.Arg47=) | |
| 6 | g.12292420C>T | CA448427688 | EDN1 | c.144C>T (p.Arg48=) c.141C>T (p.Arg47=) | |
| 6 | g.12292421dup | CA2677349987 | EDN1 | c.145dup (p.Arg49ProfsTer13) c.142dup (p.Arg48ProfsTer13) | gnomAD v4 |
| 6 | g.12292421C>A | CA448427689 | EDN1 | c.145C>A (p.Arg49=) c.142C>A (p.Arg48=) | |
| 6 | g.12292421C>G | CA362856299 | EDN1 | c.145C>G (p.Arg49Gly) c.142C>G (p.Arg48Gly) | |
| 6 | g.12292421C>T | CA362856300 | EDN1 | c.145C>T (p.Arg49Trp) c.142C>T (p.Arg48Trp) | |
| 6 | g.12292422G>A | CA362856301 | EDN1 | c.146G>A (p.Arg49Gln) c.143G>A (p.Arg48Gln) | gnomAD v4 |
| 6 | g.12292422G>C | CA362856303 | EDN1 | c.146G>C (p.Arg49Pro) c.143G>C (p.Arg48Pro) | |
| 6 | g.12292422G>T | CA362856302 | EDN1 | c.146G>T (p.Arg49Leu) c.143G>T (p.Arg48Leu) | |
| 6 | g.12292423G>A | CA3638640 | EDN1 | c.147G>A (p.Arg49=) c.144G>A (p.Arg48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292423G>C | CA448427691 | EDN1 | c.147G>C (p.Arg49=) c.144G>C (p.Arg48=) | gnomAD v4 |
| 6 | g.12292423G= | CA1610843883 | EDN1 | c.147G= (p.Arg49=) c.144G= (p.Arg48=) | |
| 6 | g.12292423G>T | CA448427690 | EDN1 | c.147G>T (p.Arg49=) c.144G>T (p.Arg48=) | |
| 6 | g.12292424T>A | CA362856304 | EDN1 | c.148T>A (p.Ser50Thr) c.145T>A (p.Ser49Thr) | |
| 6 | g.12292424T>C | CA362856305 | EDN1 | c.148T>C (p.Ser50Pro) c.145T>C (p.Ser49Pro) | dbSNP |
| 6 | g.12292424T>G | CA362856306 | EDN1 | c.148T>G (p.Ser50Ala) c.145T>G (p.Ser49Ala) | |
| 6 | g.12292424T= | CA1610843886 | EDN1 | c.148T= (p.Ser50=) c.145T= (p.Ser49=) | |
| 6 | g.12292425C>A | CA362856307 | EDN1 | c.149C>A (p.Ser50Tyr) c.146C>A (p.Ser49Tyr) | |
| 6 | g.12292425C= | CA1610843887 | EDN1 | c.149C= (p.Ser50=) c.146C= (p.Ser49=) | |
| 6 | g.12292425C>G | CA362856308 | EDN1 | c.149C>G (p.Ser50Cys) c.146C>G (p.Ser49Cys) | |
| 6 | g.12292425C>T | CA3638641 | EDN1 | c.149C>T (p.Ser50Phe) c.146C>T (p.Ser49Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292426C>A | CA448427692 | EDN1 | c.150C>A (p.Ser50=) c.147C>A (p.Ser49=) | |
| 6 | g.12292426C>G | CA448427693 | EDN1 | c.150C>G (p.Ser50=) c.147C>G (p.Ser49=) | |
| 6 | g.12292426C>T | CA448427694 | EDN1 | c.150C>T (p.Ser50=) c.147C>T (p.Ser49=) | |
| 6 | g.12292427A>C | CA362856311 | EDN1 | c.151A>C (p.Lys51Gln) c.148A>C (p.Lys50Gln) | |
| 6 | g.12292427A>G | CA362856309 | EDN1 | c.151A>G (p.Lys51Glu) c.148A>G (p.Lys50Glu) | |
| 6 | g.12292427A>T | CA362856310 | EDN1 | c.151A>T (p.Lys51Ter) c.148A>T (p.Lys50Ter) | |
| 6 | g.12292428A>C | CA362856312 | EDN1 | c.152A>C (p.Lys51Thr) c.149A>C (p.Lys50Thr) | |
| 6 | g.12292428A>G | CA362856313 | EDN1 | c.152A>G (p.Lys51Arg) c.149A>G (p.Lys50Arg) | |
| 6 | g.12292428A>T | CA362856314 | EDN1 | c.152A>T (p.Lys51Met) c.149A>T (p.Lys50Met) | |
| 6 | g.12292429G>A | CA448427695 | EDN1 | c.153G>A (p.Lys51=) c.150G>A (p.Lys50=) | |
| 6 | g.12292429G>C | CA362856315 | EDN1 | c.153G>C (p.Lys51Asn) c.150G>C (p.Lys50Asn) | gnomAD v4 |
| 6 | g.12292429G>T | CA362856316 | EDN1 | c.153G>T (p.Lys51Asn) c.150G>T (p.Lys50Asn) | |
| 6 | g.12292430C>A | CA362856317 | EDN1 | c.154C>A (p.Arg52Ser) c.151C>A (p.Arg51Ser) | gnomAD v4 |
| 6 | g.12292430C>G | CA362856319 | EDN1 | c.154C>G (p.Arg52Gly) c.151C>G (p.Arg51Gly) | |
| 6 | g.12292430C>T | CA362856318 | EDN1 | c.154C>T (p.Arg52Cys) c.151C>T (p.Arg51Cys) | |
| 6 | g.12292431G>A | CA362856320 | EDN1 | c.155G>A (p.Arg52His) c.152G>A (p.Arg51His) | |
| 6 | g.12292431G>C | CA362856321 | EDN1 | c.155G>C (p.Arg52Pro) c.152G>C (p.Arg51Pro) | |
| 6 | g.12292431G>T | CA362856322 | EDN1 | c.155G>T (p.Arg52Leu) c.152G>T (p.Arg51Leu) | |
| 6 | g.12292432C>A | CA448427697 | EDN1 | c.156C>A (p.Arg52=) c.153C>A (p.Arg51=) | |
| 6 | g.12292432C>G | CA448427698 | EDN1 | c.156C>G (p.Arg52=) c.153C>G (p.Arg51=) | |
| 6 | g.12292432C>T | CA448427696 | EDN1 | c.156C>T (p.Arg52=) c.153C>T (p.Arg51=) | |
| 6 | g.12292433T>A | CA362856323 | EDN1 | c.157T>A (p.Cys53Ser) c.154T>A (p.Cys52Ser) | |
| 6 | g.12292433T>C | CA362856324 | EDN1 | c.157T>C (p.Cys53Arg) c.154T>C (p.Cys52Arg) | |
| 6 | g.12292433T>G | CA362856325 | EDN1 | c.157T>G (p.Cys53Gly) c.154T>G (p.Cys52Gly) | |
| 6 | g.12292434G>A | CA362856326 | EDN1 | c.158G>A (p.Cys53Tyr) c.155G>A (p.Cys52Tyr) | |
| 6 | g.12292434G>C | CA362856327 | EDN1 | c.158G>C (p.Cys53Ser) c.155G>C (p.Cys52Ser) | |
| 6 | g.12292434G>T | CA362856328 | EDN1 | c.158G>T (p.Cys53Phe) c.155G>T (p.Cys52Phe) | |
| 6 | g.12292435C>A | CA362856329 | EDN1 | c.159C>A (p.Cys53Ter) c.156C>A (p.Cys52Ter) | dbSNP |
| 6 | g.12292435C= | CA1610843891 | EDN1 | c.159C= (p.Cys53=) c.156C= (p.Cys52=) | |
| 6 | g.12292435C>G | CA362856330 | EDN1 | c.159C>G (p.Cys53Trp) c.156C>G (p.Cys52Trp) | |
| 6 | g.12292435C>T | CA448427699 | EDN1 | c.159C>T (p.Cys53=) c.156C>T (p.Cys52=) | |
| 6 | g.12292436T>A | CA362856331 | EDN1 | c.160T>A (p.Ser54Thr) c.157T>A (p.Ser53Thr) | |
| 6 | g.12292436T>C | CA362856333 | EDN1 | c.160T>C (p.Ser54Pro) c.157T>C (p.Ser53Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292436T>G | CA362856332 | EDN1 | c.160T>G (p.Ser54Ala) c.157T>G (p.Ser53Ala) | |
| 6 | g.12292436T= | CA1610843895 | EDN1 | c.160T= (p.Ser54=) c.157T= (p.Ser53=) | |
| 6 | g.12292437C>A | CA362856334 | EDN1 | c.161C>A (p.Ser54Tyr) c.158C>A (p.Ser53Tyr) | |
| 6 | g.12292437C>G | CA362856335 | EDN1 | c.161C>G (p.Ser54Cys) c.158C>G (p.Ser53Cys) | |
| 6 | g.12292437C>T | CA362856336 | EDN1 | c.161C>T (p.Ser54Phe) c.158C>T (p.Ser53Phe) | |
| 6 | g.12292438C>A | CA448427700 | EDN1 | c.162C>A (p.Ser54=) c.159C>A (p.Ser53=) | |
| 6 | g.12292438C= | CA1610843898 | EDN1 | c.162C= (p.Ser54=) c.159C= (p.Ser53=) | |
| 6 | g.12292438C>G | CA448427701 | EDN1 | c.162C>G (p.Ser54=) c.159C>G (p.Ser53=) | |
| 6 | g.12292438C>T | CA448427702 | EDN1 | c.162C>T (p.Ser54=) c.159C>T (p.Ser53=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292439T>A | CA362856337 | EDN1 | c.163T>A (p.Cys55Ser) c.160T>A (p.Cys54Ser) | |
| 6 | g.12292439T>C | CA362856338 | EDN1 | c.163T>C (p.Cys55Arg) c.160T>C (p.Cys54Arg) | |
| 6 | g.12292439T>G | CA362856339 | EDN1 | c.163T>G (p.Cys55Gly) c.160T>G (p.Cys54Gly) | |
| 6 | g.12292440G>A | CA362856340 | EDN1 | c.164G>A (p.Cys55Tyr) c.161G>A (p.Cys54Tyr) | |
| 6 | g.12292440G>C | CA362856341 | EDN1 | c.164G>C (p.Cys55Ser) c.161G>C (p.Cys54Ser) | |
| 6 | g.12292440G>T | CA362856342 | EDN1 | c.164G>T (p.Cys55Phe) c.161G>T (p.Cys54Phe) | |
| 6 | g.12292441C>A | CA362856343 | EDN1 | c.165C>A (p.Cys55Ter) c.162C>A (p.Cys54Ter) | |
| 6 | g.12292441C= | CA1610843901 | EDN1 | c.165C= (p.Cys55=) c.162C= (p.Cys54=) | |
| 6 | g.12292441C>G | CA362856344 | EDN1 | c.165C>G (p.Cys55Trp) c.162C>G (p.Cys54Trp) | |
| 6 | g.12292441C>T | CA448427703 | EDN1 | c.165C>T (p.Cys55=) c.162C>T (p.Cys54=) | dbSNP |
| 6 | g.12292442T>A | CA362856347 | EDN1 | c.166T>A (p.Ser56Thr) c.163T>A (p.Ser55Thr) | |
| 6 | g.12292442T>C | CA362856346 | EDN1 | c.166T>C (p.Ser56Pro) c.163T>C (p.Ser55Pro) | |
| 6 | g.12292442T>G | CA362856345 | EDN1 | c.166T>G (p.Ser56Ala) c.163T>G (p.Ser55Ala) | |
| 6 | g.12292443C>A | CA362856348 | EDN1 | c.167C>A (p.Ser56Ter) c.164C>A (p.Ser55Ter) | dbSNP gnomAD v2 |
| 6 | g.12292443C= | CA1610843905 | EDN1 | c.167C= (p.Ser56=) c.164C= (p.Ser55=) | |
| 6 | g.12292443C>G | CA134217362 | EDN1 | c.167C>G (p.Ser56Trp) c.164C>G (p.Ser55Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292443C>T | CA362856349 | EDN1 | c.167C>T (p.Ser56Leu) c.164C>T (p.Ser55Leu) | gnomAD v4 COSMIC |
| 6 | g.12292444G>A | CA3638642 | EDN1 | c.168G>A (p.Ser56=) c.165G>A (p.Ser55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292444G>C | CA448427704 | EDN1 | c.168G>C (p.Ser56=) c.165G>C (p.Ser55=) | |
| 6 | g.12292444G= | CA1610843907 | EDN1 | c.168G= (p.Ser56=) c.165G= (p.Ser55=) | |
| 6 | g.12292444G>T | CA448427705 | EDN1 | c.168G>T (p.Ser56=) c.165G>T (p.Ser55=) | |
| 6 | g.12292445T>A | CA362856350 | EDN1 | c.169T>A (p.Ser57Thr) c.166T>A (p.Ser56Thr) | gnomAD v4 |
| 6 | g.12292445T>C | CA362856351 | EDN1 | c.169T>C (p.Ser57Pro) c.166T>C (p.Ser56Pro) | |
| 6 | g.12292445T>G | CA362856352 | EDN1 | c.169T>G (p.Ser57Ala) c.166T>G (p.Ser56Ala) | |
| 6 | g.12292446C>A | CA362856353 | EDN1 | c.170C>A (p.Ser57Tyr) c.167C>A (p.Ser56Tyr) | |
| 6 | g.12292446C>G | CA362856354 | EDN1 | c.170C>G (p.Ser57Cys) c.167C>G (p.Ser56Cys) | |
| 6 | g.12292446C>T | CA362856355 | EDN1 | c.170C>T (p.Ser57Phe) c.167C>T (p.Ser56Phe) | gnomAD v4 |
| 6 | g.12292447C>A | CA448427706 | EDN1 | c.171C>A (p.Ser57=) c.168C>A (p.Ser56=) | gnomAD v4 |
| 6 | g.12292447C>G | CA448427707 | EDN1 | c.171C>G (p.Ser57=) c.168C>G (p.Ser56=) | |
| 6 | g.12292447C>T | CA448427708 | EDN1 | c.171C>T (p.Ser57=) c.168C>T (p.Ser56=) | COSMIC |
| 6 | g.12292448C>A | CA3638643 | EDN1 | c.172C>A (p.Leu58Met) c.169C>A (p.Leu57Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292448C= | CA1610843910 | EDN1 | c.172C= (p.Leu58=) c.169C= (p.Leu57=) | |
| 6 | g.12292448C>G | CA362856356 | EDN1 | c.172C>G (p.Leu58Val) c.169C>G (p.Leu57Val) | |
| 6 | g.12292448C>T | CA448427709 | EDN1 | c.172C>T (p.Leu58=) c.169C>T (p.Leu57=) | |
| 6 | g.12292449T>A | CA362856359 | EDN1 | c.173T>A (p.Leu58Gln) c.170T>A (p.Leu57Gln) | |
| 6 | g.12292449T>C | CA362856358 | EDN1 | c.173T>C (p.Leu58Pro) c.170T>C (p.Leu57Pro) | gnomAD v4 |
| 6 | g.12292449T>G | CA362856357 | EDN1 | c.173T>G (p.Leu58Arg) c.170T>G (p.Leu57Arg) | |
| 6 | g.12292450G>A | CA448427710 | EDN1 | c.174G>A (p.Leu58=) c.171G>A (p.Leu57=) | |
| 6 | g.12292450G>C | CA448427711 | EDN1 | c.174G>C (p.Leu58=) c.171G>C (p.Leu57=) | |
| 6 | g.12292450G>T | CA448427712 | EDN1 | c.174G>T (p.Leu58=) c.171G>T (p.Leu57=) | |
| 6 | g.12292451A>C | CA362856360 | EDN1 | c.175A>C (p.Met59Leu) c.172A>C (p.Met58Leu) | |
| 6 | g.12292451A>G | CA362856362 | EDN1 | c.175A>G (p.Met59Val) c.172A>G (p.Met58Val) | gnomAD v4 |
| 6 | g.12292451A>T | CA362856361 | EDN1 | c.175A>T (p.Met59Leu) c.172A>T (p.Met58Leu) | |
| 6 | g.12292452T>A | CA362856363 | EDN1 | c.176T>A (p.Met59Lys) c.173T>A (p.Met58Lys) | |
| 6 | g.12292452T>C | CA362856365 | EDN1 | c.176T>C (p.Met59Thr) c.173T>C (p.Met58Thr) | gnomAD v4 |
| 6 | g.12292452T>G | CA362856364 | EDN1 | c.176T>G (p.Met59Arg) c.173T>G (p.Met58Arg) | |
| 6 | g.12292453G>A | CA362856366 | EDN1 | c.177G>A (p.Met59Ile) c.174G>A (p.Met58Ile) | gnomAD v4 |
| 6 | g.12292453G>C | CA362856368 | EDN1 | c.177G>C (p.Met59Ile) c.174G>C (p.Met58Ile) | |
| 6 | g.12292453G>T | CA362856367 | EDN1 | c.177G>T (p.Met59Ile) c.174G>T (p.Met58Ile) | gnomAD v4 |
| 6 | g.12292454G>A | CA362856369 | EDN1 | c.178G>A (p.Asp60Asn) c.175G>A (p.Asp59Asn) | |
| 6 | g.12292454G>C | CA362856371 | EDN1 | c.178G>C (p.Asp60His) c.175G>C (p.Asp59His) | |
| 6 | g.12292454G>T | CA362856370 | EDN1 | c.178G>T (p.Asp60Tyr) c.175G>T (p.Asp59Tyr) | |
| 6 | g.12292455A>C | CA362856372 | EDN1 | c.179A>C (p.Asp60Ala) c.176A>C (p.Asp59Ala) | |
| 6 | g.12292455A>G | CA362856374 | EDN1 | c.179A>G (p.Asp60Gly) c.176A>G (p.Asp59Gly) | |
| 6 | g.12292455A>T | CA362856373 | EDN1 | c.179A>T (p.Asp60Val) c.176A>T (p.Asp59Val) | |
| 6 | g.12292456T>A | CA362856375 | EDN1 | c.180T>A (p.Asp60Glu) c.177T>A (p.Asp59Glu) | |
| 6 | g.12292456T>C | CA448427714 | EDN1 | c.180T>C (p.Asp60=) c.177T>C (p.Asp59=) | gnomAD v4 |
| 6 | g.12292456T>G | CA362856376 | EDN1 | c.180T>G (p.Asp60Glu) c.177T>G (p.Asp59Glu) | |
| 6 | g.12292457A>C | CA362856377 | EDN1 | c.181A>C (p.Lys61Gln) c.178A>C (p.Lys60Gln) | |
| 6 | g.12292457A>G | CA362856379 | EDN1 | c.181A>G (p.Lys61Glu) c.178A>G (p.Lys60Glu) | gnomAD v4 |
| 6 | g.12292457A>T | CA362856378 | EDN1 | c.181A>T (p.Lys61Ter) c.178A>T (p.Lys60Ter) | |
| 6 | g.12292458_12292459dup | CA2677349988 | EDN1 | c.182_183dup (p.Glu62LysfsTer?) c.179_180dup (p.Glu61LysfsTer?) | gnomAD v4 |
| 6 | g.12292458A>C | CA362856380 | EDN1 | c.182A>C (p.Lys61Thr) c.179A>C (p.Lys60Thr) | |
| 6 | g.12292458A>G | CA362856382 | EDN1 | c.182A>G (p.Lys61Arg) c.179A>G (p.Lys60Arg) | |
| 6 | g.12292458A>T | CA362856381 | EDN1 | c.182A>T (p.Lys61Ile) c.179A>T (p.Lys60Ile) | |
| 6 | g.12292459A>C | CA362856383 | EDN1 | c.183A>C (p.Lys61Asn) c.180A>C (p.Lys60Asn) | gnomAD v4 |
| 6 | g.12292459A>G | CA448427715 | EDN1 | c.183A>G (p.Lys61=) c.180A>G (p.Lys60=) | |
| 6 | g.12292459A>T | CA362856384 | EDN1 | c.183A>T (p.Lys61Asn) c.180A>T (p.Lys60Asn) | |
| 6 | g.12292459_12292463delinsAGAGT | CA1610843912 | EDN1 | c.183_187delinsAGAGT (p.Lys61=) c.180_184delinsAGAGT (p.Lys60=) | |
| 6 | g.12292460G>A | CA362856385 | EDN1 | c.184G>A (p.Glu62Lys) c.181G>A (p.Glu61Lys) | |
| 6 | g.12292460G>C | CA362856386 | EDN1 | c.184G>C (p.Glu62Gln) c.181G>C (p.Glu61Gln) | ClinVar dbSNP |
| 6 | g.12292460G= | CA1610843914 | EDN1 | c.184G= (p.Glu62=) c.181G= (p.Glu61=) | |
| 6 | g.12292460G>T | CA362856387 | EDN1 | c.184G>T (p.Glu62Ter) c.181G>T (p.Glu61Ter) | |
| 6 | g.12292461_12292464del | CA1610843913 | EDN1 | c.185_188del (p.Glu62ValfsTer?) c.182_185del (p.Glu61ValfsTer?) | dbSNP |
| 6 | g.12292461A>C | CA362856388 | EDN1 | c.185A>C (p.Glu62Ala) c.182A>C (p.Glu61Ala) | |
| 6 | g.12292461A>G | CA362856389 | EDN1 | c.185A>G (p.Glu62Gly) c.182A>G (p.Glu61Gly) | |
| 6 | g.12292461A>T | CA362856390 | EDN1 | c.185A>T (p.Glu62Val) c.182A>T (p.Glu61Val) | COSMIC |
| 6 | g.12292462G>A | CA134217366 | EDN1 | c.186G>A (p.Glu62=) c.183G>A (p.Glu61=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292462G>C | CA362856391 | EDN1 | c.186G>C (p.Glu62Asp) c.183G>C (p.Glu61Asp) | |
| 6 | g.12292462G= | CA1610843916 | EDN1 | c.186G= (p.Glu62=) c.183G= (p.Glu61=) | |
| 6 | g.12292462G>T | CA362856392 | EDN1 | c.186G>T (p.Glu62Asp) c.183G>T (p.Glu61Asp) | |
| 6 | g.12292463T>A | CA362856395 | EDN1 | c.187T>A (p.Cys63Ser) c.184T>A (p.Cys62Ser) | |
| 6 | g.12292463T>C | CA362856394 | EDN1 | c.187T>C (p.Cys63Arg) c.184T>C (p.Cys62Arg) | dbSNP |
| 6 | g.12292463T>G | CA362856393 | EDN1 | c.187T>G (p.Cys63Gly) c.184T>G (p.Cys62Gly) | |
| 6 | g.12292463T= | CA1610843917 | EDN1 | c.187T= (p.Cys63=) c.184T= (p.Cys62=) | |
| 6 | g.12292464G>A | CA16618236 | EDN1 | c.188G>A (p.Cys63Tyr) c.185G>A (p.Cys62Tyr) | ClinVar dbSNP |
| 6 | g.12292464G>C | CA362856396 | EDN1 | c.188G>C (p.Cys63Ser) c.185G>C (p.Cys62Ser) | |
| 6 | g.12292464G= | CA1610843919 | EDN1 | c.188G= (p.Cys63=) c.185G= (p.Cys62=) | |
| 6 | g.12292464G>T | CA362856397 | EDN1 | c.188G>T (p.Cys63Phe) c.185G>T (p.Cys62Phe) | |
| 6 | g.12292465T>A | CA362856398 | EDN1 | c.189T>A (p.Cys63Ter) c.186T>A (p.Cys62Ter) | |
| 6 | g.12292465T>C | CA448427716 | EDN1 | c.189T>C (p.Cys63=) c.186T>C (p.Cys62=) | |
| 6 | g.12292465T>G | CA362856399 | EDN1 | c.189T>G (p.Cys63Trp) c.186T>G (p.Cys62Trp) | |
| 6 | g.12292466G>A | CA362856400 | EDN1 | c.190G>A (p.Val64Ile) c.187G>A (p.Val63Ile) | gnomAD v4 |
| 6 | g.12292466G>C | CA362856401 | EDN1 | c.190G>C (p.Val64Leu) c.187G>C (p.Val63Leu) | |
| 6 | g.12292466G>T | CA362856402 | EDN1 | c.190G>T (p.Val64Phe) c.187G>T (p.Val63Phe) | |
| 6 | g.12292467T>A | CA150781 | EDN1 | c.191T>A (p.Val64Asp) c.188T>A (p.Val63Asp) | ClinVar dbSNP |
| 6 | g.12292467T>C | CA362856403 | EDN1 | c.191T>C (p.Val64Ala) c.188T>C (p.Val63Ala) | |
| 6 | g.12292467T>G | CA362856404 | EDN1 | c.191T>G (p.Val64Gly) c.188T>G (p.Val63Gly) | |
| 6 | g.12292467T= | CA1610843921 | EDN1 | c.191T= (p.Val64=) c.188T= (p.Val63=) | |
| 6 | g.12292468C>A | CA448427717 | EDN1 | c.192C>A (p.Val64=) c.189C>A (p.Val63=) | |
| 6 | g.12292468C>G | CA448427718 | EDN1 | c.192C>G (p.Val64=) c.189C>G (p.Val63=) | |
| 6 | g.12292468C>T | CA448427719 | EDN1 | c.192C>T (p.Val64=) c.189C>T (p.Val63=) | |
| 6 | g.12292469T>A | CA362856407 | EDN1 | c.193T>A (p.Tyr65Asn) c.190T>A (p.Tyr64Asn) | |
| 6 | g.12292469T>C | CA362856406 | EDN1 | c.193T>C (p.Tyr65His) c.190T>C (p.Tyr64His) | |
| 6 | g.12292469T>G | CA362856405 | EDN1 | c.193T>G (p.Tyr65Asp) c.190T>G (p.Tyr64Asp) | |
| 6 | g.12292470A>C | CA362856408 | EDN1 | c.194A>C (p.Tyr65Ser) c.191A>C (p.Tyr64Ser) | |
| 6 | g.12292470A>G | CA362856409 | EDN1 | c.194A>G (p.Tyr65Cys) c.191A>G (p.Tyr64Cys) | gnomAD v4 COSMIC |
| 6 | g.12292470A>T | CA362856410 | EDN1 | c.194A>T (p.Tyr65Phe) c.191A>T (p.Tyr64Phe) | |
| 6 | g.12292471C>A | CA362856411 | EDN1 | c.195C>A (p.Tyr65Ter) c.192C>A (p.Tyr64Ter) | |
| 6 | g.12292471C= | CA1610843925 | EDN1 | c.195C= (p.Tyr65=) c.192C= (p.Tyr64=) | |
| 6 | g.12292471C>G | CA362856412 | EDN1 | c.195C>G (p.Tyr65Ter) c.192C>G (p.Tyr64Ter) | |
| 6 | g.12292471C>T | CA3638644 | EDN1 | c.195C>T (p.Tyr65=) c.192C>T (p.Tyr64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292472T>A | CA362856413 | EDN1 | c.196T>A (p.Phe66Ile) c.193T>A (p.Phe65Ile) | |
| 6 | g.12292472T>C | CA362856414 | EDN1 | c.196T>C (p.Phe66Leu) c.193T>C (p.Phe65Leu) | |
| 6 | g.12292472T>G | CA362856415 | EDN1 | c.196T>G (p.Phe66Val) c.193T>G (p.Phe65Val) | |
| 6 | g.12292473T>A | CA362856416 | EDN1 | c.197T>A (p.Phe66Tyr) c.194T>A (p.Phe65Tyr) | |
| 6 | g.12292473T>C | CA362856417 | EDN1 | c.197T>C (p.Phe66Ser) c.194T>C (p.Phe65Ser) | |
| 6 | g.12292473T>G | CA362856418 | EDN1 | c.197T>G (p.Phe66Cys) c.194T>G (p.Phe65Cys) | |
| 6 | g.12292474C>A | CA362856420 | EDN1 | c.198C>A (p.Phe66Leu) c.195C>A (p.Phe65Leu) | |
| 6 | g.12292474C>G | CA362856419 | EDN1 | c.198C>G (p.Phe66Leu) c.195C>G (p.Phe65Leu) | |
| 6 | g.12292474C>T | CA448427721 | EDN1 | c.198C>T (p.Phe66=) c.195C>T (p.Phe65=) | COSMIC |
| 6 | g.12292475T>A | CA362856421 | EDN1 | c.199T>A (p.Cys67Ser) c.196T>A (p.Cys66Ser) | |
| 6 | g.12292475T>C | CA362856422 | EDN1 | c.199T>C (p.Cys67Arg) c.196T>C (p.Cys66Arg) | |
| 6 | g.12292475T>G | CA362856423 | EDN1 | c.199T>G (p.Cys67Gly) c.196T>G (p.Cys66Gly) | gnomAD v4 |
| 6 | g.12292476G>A | CA362856424 | EDN1 | c.200G>A (p.Cys67Tyr) c.197G>A (p.Cys66Tyr) | |
| 6 | g.12292476G>C | CA362856425 | EDN1 | c.200G>C (p.Cys67Ser) c.197G>C (p.Cys66Ser) | |
| 6 | g.12292476G>T | CA362856426 | EDN1 | c.200G>T (p.Cys67Phe) c.197G>T (p.Cys66Phe) | |
| 6 | g.12292477C>A | CA362856427 | EDN1 | c.201C>A (p.Cys67Ter) c.198C>A (p.Cys66Ter) | |
| 6 | g.12292477C= | CA1610843928 | EDN1 | c.201C= (p.Cys67=) c.198C= (p.Cys66=) | |
| 6 | g.12292477C>G | CA362856428 | EDN1 | c.201C>G (p.Cys67Trp) c.198C>G (p.Cys66Trp) | |
| 6 | g.12292477C>T | CA3638645 | EDN1 | c.201C>T (p.Cys67=) c.198C>T (p.Cys66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |