| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12292348_12292349delinsAG | CA1610843697 | EDN1 | c.72_73delinsAG (p.Leu24=) c.69_70delinsAG (p.Leu23=) | |
| 6 | g.12292349G>A | CA362856162 | EDN1 | c.73G>A (p.Gly25Ser) c.70G>A (p.Gly24Ser) | |
| 6 | g.12292349G>C | CA362856164 | EDN1 | c.73G>C (p.Gly25Arg) c.70G>C (p.Gly24Arg) | |
| 6 | g.12292349G>T | CA362856163 | EDN1 | c.73G>T (p.Gly25Cys) c.70G>T (p.Gly24Cys) | |
| 6 | g.12292350del | CA134217330 | EDN1 | c.74del (p.Gly25AlafsTer?) c.71del (p.Gly24AlafsTer?) | dbSNP |
| 6 | g.12292350G>A | CA362856165 | EDN1 | c.74G>A (p.Gly25Asp) c.71G>A (p.Gly24Asp) | |
| 6 | g.12292350G>C | CA362856166 | EDN1 | c.74G>C (p.Gly25Ala) c.71G>C (p.Gly24Ala) | |
| 6 | g.12292350G= | CA1610843702 | EDN1 | c.74G= (p.Gly25=) c.71G= (p.Gly24=) | |
| 6 | g.12292350G>T | CA362856167 | EDN1 | c.74G>T (p.Gly25Val) c.71G>T (p.Gly24Val) | dbSNP |
| 6 | g.12292351C>A | CA448427640 | EDN1 | c.75C>A (p.Gly25=) c.72C>A (p.Gly24=) | |
| 6 | g.12292351C= | CA1610843705 | EDN1 | c.75C= (p.Gly25=) c.72C= (p.Gly24=) | |
| 6 | g.12292351C>G | CA448427641 | EDN1 | c.75C>G (p.Gly25=) c.72C>G (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292351C>T | CA448427642 | EDN1 | c.75C>T (p.Gly25=) c.72C>T (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292352G>A | CA362856168 | EDN1 | c.76G>A (p.Ala26Thr) c.73G>A (p.Ala25Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292352G>C | CA362856169 | EDN1 | c.76G>C (p.Ala26Pro) c.73G>C (p.Ala25Pro) | gnomAD v4 |
| 6 | g.12292352G= | CA1610843709 | EDN1 | c.76G= (p.Ala26=) c.73G= (p.Ala25=) | |
| 6 | g.12292352G>T | CA362856170 | EDN1 | c.76G>T (p.Ala26Ser) c.73G>T (p.Ala25Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12292353C>A | CA362856171 | EDN1 | c.77C>A (p.Ala26Asp) c.74C>A (p.Ala25Asp) | |
| 6 | g.12292353C>G | CA362856172 | EDN1 | c.77C>G (p.Ala26Gly) c.74C>G (p.Ala25Gly) | |
| 6 | g.12292353C>T | CA362856173 | EDN1 | c.77C>T (p.Ala26Val) c.74C>T (p.Ala25Val) | |
| 6 | g.12292354T>A | CA448427643 | EDN1 | c.78T>A (p.Ala26=) c.75T>A (p.Ala25=) | |
| 6 | g.12292354T>C | CA448427644 | EDN1 | c.78T>C (p.Ala26=) c.75T>C (p.Ala25=) | |
| 6 | g.12292354T>G | CA3638613 | EDN1 | c.78T>G (p.Ala26=) c.75T>G (p.Ala25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292354T= | CA1610843715 | EDN1 | c.78T= (p.Ala26=) c.75T= (p.Ala25=) | |
| 6 | g.12292355G>A | CA3638614 | EDN1 | c.79G>A (p.Glu27Lys) c.76G>A (p.Glu26Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292355G>C | CA362856174 | EDN1 | c.79G>C (p.Glu27Gln) c.76G>C (p.Glu26Gln) | |
| 6 | g.12292355G= | CA1610843718 | EDN1 | c.79G= (p.Glu27=) c.76G= (p.Glu26=) | |
| 6 | g.12292355G>T | CA362856175 | EDN1 | c.79G>T (p.Glu27Ter) c.76G>T (p.Glu26Ter) | |
| 6 | g.12292356A>C | CA362856176 | EDN1 | c.80A>C (p.Glu27Ala) c.77A>C (p.Glu26Ala) | |
| 6 | g.12292356A>G | CA362856177 | EDN1 | c.80A>G (p.Glu27Gly) c.77A>G (p.Glu26Gly) | |
| 6 | g.12292356A>T | CA362856178 | EDN1 | c.80A>T (p.Glu27Val) c.77A>T (p.Glu26Val) | |
| 6 | g.12292357G>A | CA448427645 | EDN1 | c.81G>A (p.Glu27=) c.78G>A (p.Glu26=) | |
| 6 | g.12292357G>C | CA362856179 | EDN1 | c.81G>C (p.Glu27Asp) c.78G>C (p.Glu26Asp) | dbSNP gnomAD v4 |
| 6 | g.12292357G= | CA1610843730 | EDN1 | c.81G= (p.Glu27=) c.78G= (p.Glu26=) | |
| 6 | g.12292357G>T | CA362856180 | EDN1 | c.81G>T (p.Glu27Asp) c.78G>T (p.Glu26Asp) | |
| 6 | g.12292358C>A | CA3638615 | EDN1 | c.82C>A (p.Leu28Ile) c.79C>A (p.Leu27Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292358C= | CA1610843733 | EDN1 | c.82C= (p.Leu28=) c.79C= (p.Leu27=) | |
| 6 | g.12292358C>G | CA362856181 | EDN1 | c.82C>G (p.Leu28Val) c.79C>G (p.Leu27Val) | |
| 6 | g.12292358C>T | CA362856182 | EDN1 | c.82C>T (p.Leu28Phe) c.79C>T (p.Leu27Phe) | |
| 6 | g.12292359T>A | CA362856183 | EDN1 | c.83T>A (p.Leu28His) c.80T>A (p.Leu27His) | |
| 6 | g.12292359T>C | CA362856184 | EDN1 | c.83T>C (p.Leu28Pro) c.80T>C (p.Leu27Pro) | |
| 6 | g.12292359T>G | CA362856185 | EDN1 | c.83T>G (p.Leu28Arg) c.80T>G (p.Leu27Arg) | gnomAD v4 |
| 6 | g.12292360C>A | CA448427648 | EDN1 | c.84C>A (p.Leu28=) c.81C>A (p.Leu27=) | |
| 6 | g.12292360C>G | CA448427647 | EDN1 | c.84C>G (p.Leu28=) c.81C>G (p.Leu27=) | |
| 6 | g.12292360C>T | CA448427646 | EDN1 | c.84C>T (p.Leu28=) c.81C>T (p.Leu27=) | |
| 6 | g.12292361A= | CA1610843735 | EDN1 | c.85A= (p.Ser29=) c.82A= (p.Ser28=) | |
| 6 | g.12292361A>C | CA362856188 | EDN1 | c.85A>C (p.Ser29Arg) c.82A>C (p.Ser28Arg) | dbSNP gnomAD v4 |
| 6 | g.12292361A>G | CA362856186 | EDN1 | c.85A>G (p.Ser29Gly) c.82A>G (p.Ser28Gly) | |
| 6 | g.12292361A>T | CA362856187 | EDN1 | c.85A>T (p.Ser29Cys) c.82A>T (p.Ser28Cys) | |
| 6 | g.12292362G>A | CA362856189 | EDN1 | c.86G>A (p.Ser29Asn) c.83G>A (p.Ser28Asn) | dbSNP |
| 6 | g.12292362G>C | CA362856190 | EDN1 | c.86G>C (p.Ser29Thr) c.83G>C (p.Ser28Thr) | |
| 6 | g.12292362G= | CA1610843738 | EDN1 | c.86G= (p.Ser29=) c.83G= (p.Ser28=) | |
| 6 | g.12292362G>T | CA362856191 | EDN1 | c.86G>T (p.Ser29Ile) c.83G>T (p.Ser28Ile) | |
| 6 | g.12292363C>A | CA362856192 | EDN1 | c.87C>A (p.Ser29Arg) c.84C>A (p.Ser28Arg) | |
| 6 | g.12292363C= | CA1610843741 | EDN1 | c.87C= (p.Ser29=) c.84C= (p.Ser28=) | |
| 6 | g.12292363C>G | CA3638616 | EDN1 | c.87C>G (p.Ser29Arg) c.84C>G (p.Ser28Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292363C>T | CA3638617 | EDN1 | c.87C>T (p.Ser29=) c.84C>T (p.Ser28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292364G>A | CA362856193 | EDN1 | c.88G>A (p.Ala30Thr) c.85G>A (p.Ala29Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292364G>C | CA362856194 | EDN1 | c.88G>C (p.Ala30Pro) c.85G>C (p.Ala29Pro) | |
| 6 | g.12292364G= | CA1610843746 | EDN1 | c.88G= (p.Ala30=) c.85G= (p.Ala29=) | |
| 6 | g.12292364G>T | CA362856195 | EDN1 | c.88G>T (p.Ala30Ser) c.85G>T (p.Ala29Ser) | |
| 6 | g.12292365C>A | CA3638618 | EDN1 | c.89C>A (p.Ala30Glu) c.86C>A (p.Ala29Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292365C= | CA1610843750 | EDN1 | c.89C= (p.Ala30=) c.86C= (p.Ala29=) | |
| 6 | g.12292365C>G | CA362856196 | EDN1 | c.89C>G (p.Ala30Gly) c.86C>G (p.Ala29Gly) | |
| 6 | g.12292365C>T | CA134217336 | EDN1 | c.89C>T (p.Ala30Val) c.86C>T (p.Ala29Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292366G>A | CA3638619 | EDN1 | c.90G>A (p.Ala30=) c.87G>A (p.Ala29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292366G>C | CA448427649 | EDN1 | c.90G>C (p.Ala30=) c.87G>C (p.Ala29=) | |
| 6 | g.12292366G= | CA1610843756 | EDN1 | c.90G= (p.Ala30=) c.87G= (p.Ala29=) | |
| 6 | g.12292366G>T | CA3638620 | EDN1 | c.90G>T (p.Ala30=) c.87G>T (p.Ala29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12292367dup | CA2578531287 | EDN1 | c.91dup (p.Val31GlyfsTer3) c.88dup (p.Val30GlyfsTer3) | |
| 6 | g.12292367G>A | CA362856197 | EDN1 | c.91G>A (p.Val31Met) c.88G>A (p.Val30Met) | |
| 6 | g.12292367G>C | CA362856198 | EDN1 | c.91G>C (p.Val31Leu) c.88G>C (p.Val30Leu) | |
| 6 | g.12292367G>T | CA362856199 | EDN1 | c.91G>T (p.Val31Leu) c.88G>T (p.Val30Leu) | |
| 6 | g.12292368T>A | CA362856200 | EDN1 | c.92T>A (p.Val31Glu) c.89T>A (p.Val30Glu) | |
| 6 | g.12292368T>C | CA362856201 | EDN1 | c.92T>C (p.Val31Ala) c.89T>C (p.Val30Ala) | dbSNP |
| 6 | g.12292368T>G | CA362856202 | EDN1 | c.92T>G (p.Val31Gly) c.89T>G (p.Val30Gly) | |
| 6 | g.12292369G>A | CA448427650 | EDN1 | c.93G>A (p.Val31=) c.90G>A (p.Val30=) | gnomAD v4 |
| 6 | g.12292369G>C | CA448427651 | EDN1 | c.93G>C (p.Val31=) c.90G>C (p.Val30=) | |
| 6 | g.12292369G>T | CA448427652 | EDN1 | c.93G>T (p.Val31=) c.90G>T (p.Val30=) | |
| 6 | g.12292370G>A | CA3638621 | EDN1 | c.94G>A (p.Gly32Ser) c.91G>A (p.Gly31Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12292370G>C | CA362856204 | EDN1 | c.94G>C (p.Gly32Arg) c.91G>C (p.Gly31Arg) | |
| 6 | g.12292370G= | CA1610843765 | EDN1 | c.94G= (p.Gly32=) c.91G= (p.Gly31=) | |
| 6 | g.12292370G>T | CA362856203 | EDN1 | c.94G>T (p.Gly32Cys) c.91G>T (p.Gly31Cys) | |
| 6 | g.12292372_12292383del | CA2582343059 | EDN1 | c.96_107del (p.Glu33_Gly36del) c.93_104del (p.Glu32_Gly35del) | |
| 6 | g.12292371G>A | CA362856205 | EDN1 | c.95G>A (p.Gly32Asp) c.92G>A (p.Gly31Asp) | |
| 6 | g.12292371G>C | CA362856206 | EDN1 | c.95G>C (p.Gly32Ala) c.92G>C (p.Gly31Ala) | |
| 6 | g.12292371G>T | CA362856207 | EDN1 | c.95G>T (p.Gly32Val) c.92G>T (p.Gly31Val) | |
| 6 | g.12292372T>A | CA448427653 | EDN1 | c.96T>A (p.Gly32=) c.93T>A (p.Gly31=) | |
| 6 | g.12292372T>C | CA448427654 | EDN1 | c.96T>C (p.Gly32=) c.93T>C (p.Gly31=) | |
| 6 | g.12292372T>G | CA448427655 | EDN1 | c.96T>G (p.Gly32=) c.93T>G (p.Gly31=) | |
| 6 | g.12292373G>A | CA362856208 | EDN1 | c.97G>A (p.Glu33Lys) c.94G>A (p.Glu32Lys) | |
| 6 | g.12292373G>C | CA362856209 | EDN1 | c.97G>C (p.Glu33Gln) c.94G>C (p.Glu32Gln) | |
| 6 | g.12292373G>T | CA362856210 | EDN1 | c.97G>T (p.Glu33Ter) c.94G>T (p.Glu32Ter) | |
| 6 | g.12292374A= | CA1610843770 | EDN1 | c.98A= (p.Glu33=) c.95A= (p.Glu32=) | |
| 6 | g.12292374A>C | CA362856213 | EDN1 | c.98A>C (p.Glu33Ala) c.95A>C (p.Glu32Ala) | |
| 6 | g.12292374A>G | CA362856211 | EDN1 | c.98A>G (p.Glu33Gly) c.95A>G (p.Glu32Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12292374A>T | CA362856212 | EDN1 | c.98A>T (p.Glu33Val) c.95A>T (p.Glu32Val) | |
| 6 | g.12292375G>A | CA448427656 | EDN1 | c.99G>A (p.Glu33=) c.96G>A (p.Glu32=) | |
| 6 | g.12292375G>C | CA362856214 | EDN1 | c.99G>C (p.Glu33Asp) c.96G>C (p.Glu32Asp) | |
| 6 | g.12292375G>T | CA362856215 | EDN1 | c.99G>T (p.Glu33Asp) c.96G>T (p.Glu32Asp) | |
| 6 | g.12292376A>C | CA362856216 | EDN1 | c.100A>C (p.Asn34His) c.97A>C (p.Asn33His) | |
| 6 | g.12292376A>G | CA362856217 | EDN1 | c.100A>G (p.Asn34Asp) c.97A>G (p.Asn33Asp) | dbSNP |
| 6 | g.12292376A>T | CA362856218 | EDN1 | c.100A>T (p.Asn34Tyr) c.97A>T (p.Asn33Tyr) | |
| 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) |