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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.12294288G>A | CA362856937 | EDN1 | c.417G>A (p.Trp139Ter) c.414G>A (p.Trp138Ter) | |
| 6 | g.12294288G>C | CA362856938 | EDN1 | c.417G>C (p.Trp139Cys) c.414G>C (p.Trp138Cys) | |
| 6 | g.12294288G>T | CA362856939 | EDN1 | c.417G>T (p.Trp139Cys) c.414G>T (p.Trp138Cys) | |
| 6 | g.12294289A>C | CA362856940 | EDN1 | c.418A>C (p.Asn140His) c.415A>C (p.Asn139His) | |
| 6 | g.12294289A>G | CA362856941 | EDN1 | c.418A>G (p.Asn140Asp) c.415A>G (p.Asn139Asp) | |
| 6 | g.12294289A>T | CA362856942 | EDN1 | c.418A>T (p.Asn140Tyr) c.415A>T (p.Asn139Tyr) | |
| 6 | g.12294290A>C | CA362856943 | EDN1 | c.419A>C (p.Asn140Thr) c.416A>C (p.Asn139Thr) | |
| 6 | g.12294290A>G | CA362856944 | EDN1 | c.419A>G (p.Asn140Ser) c.416A>G (p.Asn139Ser) | |
| 6 | g.12294290A>T | CA362856945 | EDN1 | c.419A>T (p.Asn140Ile) c.416A>T (p.Asn139Ile) | gnomAD v4 |
| 6 | g.12294291T>A | CA362856946 | EDN1 | c.420T>A (p.Asn140Lys) c.417T>A (p.Asn139Lys) | |
| 6 | g.12294291T>C | CA448427848 | EDN1 | c.420T>C (p.Asn140=) c.417T>C (p.Asn139=) | |
| 6 | g.12294291T>G | CA362856947 | EDN1 | c.420T>G (p.Asn140Lys) c.417T>G (p.Asn139Lys) | |
| 6 | g.12294292A>C | CA362856949 | EDN1 | c.421A>C (p.Asn141His) c.418A>C (p.Asn140His) | |
| 6 | g.12294292A>G | CA362856950 | EDN1 | c.421A>G (p.Asn141Asp) c.418A>G (p.Asn140Asp) | |
| 6 | g.12294292A>T | CA362856948 | EDN1 | c.421A>T (p.Asn141Tyr) c.418A>T (p.Asn140Tyr) | |
| 6 | g.12294293A>C | CA362856951 | EDN1 | c.422A>C (p.Asn141Thr) c.419A>C (p.Asn140Thr) | |
| 6 | g.12294293A>G | CA362856952 | EDN1 | c.422A>G (p.Asn141Ser) c.419A>G (p.Asn140Ser) | |
| 6 | g.12294293A>T | CA362856953 | EDN1 | c.422A>T (p.Asn141Ile) c.419A>T (p.Asn140Ile) | |
| 6 | g.12294294T>A | CA362856954 | EDN1 | c.423T>A (p.Asn141Lys) c.420T>A (p.Asn140Lys) | |
| 6 | g.12294294T>C | CA448427849 | EDN1 | c.423T>C (p.Asn141=) c.420T>C (p.Asn140=) | |
| 6 | g.12294294T>G | CA362856955 | EDN1 | c.423T>G (p.Asn141Lys) c.420T>G (p.Asn140Lys) | |
| 6 | g.12294295C>A | CA362856956 | EDN1 | c.424C>A (p.His142Asn) c.421C>A (p.His141Asn) | gnomAD v4 |
| 6 | g.12294295C= | CA1610846151 | EDN1 | c.424C= (p.His142=) c.421C= (p.His141=) | |
| 6 | g.12294295C>G | CA362856957 | EDN1 | c.424C>G (p.His142Asp) c.421C>G (p.His141Asp) | |
| 6 | g.12294295C>T | CA362856958 | EDN1 | c.424C>T (p.His142Tyr) c.421C>T (p.His141Tyr) | dbSNP |
| 6 | g.12294296A= | CA1610846152 | EDN1 | c.425A= (p.His142=) c.422A= (p.His141=) | |
| 6 | g.12294296A>C | CA362856959 | EDN1 | c.425A>C (p.His142Pro) c.422A>C (p.His141Pro) | |
| 6 | g.12294296A>G | CA362856960 | EDN1 | c.425A>G (p.His142Arg) c.422A>G (p.His141Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12294296A>T | CA362856961 | EDN1 | c.425A>T (p.His142Leu) c.422A>T (p.His141Leu) | |
| 6 | g.12294297T>A | CA362856962 | EDN1 | c.426T>A (p.His142Gln) c.423T>A (p.His141Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12294297T>C | CA448427850 | EDN1 | c.426T>C (p.His142=) c.423T>C (p.His141=) | |
| 6 | g.12294297T>G | CA362856963 | EDN1 | c.426T>G (p.His142Gln) c.423T>G (p.His141Gln) | |
| 6 | g.12294297T= | CA1610846157 | EDN1 | c.426T= (p.His142=) c.423T= (p.His141=) | |
| 6 | g.12294298A= | CA1610846164 | EDN1 | c.427A= (p.Lys143=) c.424A= (p.Lys142=) | |
| 6 | g.12294298A>C | CA362856964 | EDN1 | c.427A>C (p.Lys143Gln) c.424A>C (p.Lys142Gln) | |
| 6 | g.12294298A>G | CA3638712 | EDN1 | c.427A>G (p.Lys143Glu) c.424A>G (p.Lys142Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12294298A>T | CA362856965 | EDN1 | c.427A>T (p.Lys143Ter) c.424A>T (p.Lys142Ter) | |
| 6 | g.12294299A>C | CA362856966 | EDN1 | c.428A>C (p.Lys143Thr) c.425A>C (p.Lys142Thr) | |
| 6 | g.12294299A>G | CA362856967 | EDN1 | c.428A>G (p.Lys143Arg) c.425A>G (p.Lys142Arg) | |
| 6 | g.12294299A>T | CA362856968 | EDN1 | c.428A>T (p.Lys143Met) c.425A>T (p.Lys142Met) | |
| 6 | g.12294300G>A | CA448427851 | EDN1 | c.429G>A (p.Lys143=) c.426G>A (p.Lys142=) | |
| 6 | g.12294300G>C | CA362856969 | EDN1 | c.429G>C (p.Lys143Asn) c.426G>C (p.Lys142Asn) | |
| 6 | g.12294300G>T | CA362856970 | EDN1 | c.429G>T (p.Lys143Asn) c.426G>T (p.Lys142Asn) | |
| 6 | g.12294301A= | CA1610829059 | EDN1 | c.430A= (p.Lys144=) c.427A= (p.Lys143=) | |
| 6 | g.12294301A>C | CA362856971 | EDN1 | c.430A>C (p.Lys144Gln) c.427A>C (p.Lys143Gln) | |
| 6 | g.12294301A>G | CA3638713 | EDN1 | c.430A>G (p.Lys144Glu) c.427A>G (p.Lys143Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294301A>T | CA362856972 | EDN1 | c.430A>T (p.Lys144Ter) c.427A>T (p.Lys143Ter) | |
| 6 | g.12294302A>C | CA362856973 | EDN1 | c.431A>C (p.Lys144Thr) c.428A>C (p.Lys143Thr) | |
| 6 | g.12294302A>G | CA362856974 | EDN1 | c.431A>G (p.Lys144Arg) c.428A>G (p.Lys143Arg) | |
| 6 | g.12294302A>T | CA362856975 | EDN1 | c.431A>T (p.Lys144Ile) c.428A>T (p.Lys143Ile) | |
| 6 | g.12294303A>C | CA362856977 | EDN1 | c.432A>C (p.Lys144Asn) c.429A>C (p.Lys143Asn) | |
| 6 | g.12294303A>G | CA448427852 | EDN1 | c.432A>G (p.Lys144=) c.429A>G (p.Lys143=) | |
| 6 | g.12294303A>T | CA362856976 | EDN1 | c.432A>T (p.Lys144Asn) c.429A>T (p.Lys143Asn) | |
| 6 | g.12294304G>A | CA362856978 | EDN1 | c.433G>A (p.Gly145Arg) c.430G>A (p.Gly144Arg) | |
| 6 | g.12294304G>C | CA362856980 | EDN1 | c.433G>C (p.Gly145Arg) c.430G>C (p.Gly144Arg) | |
| 6 | g.12294304G>T | CA362856979 | EDN1 | c.433G>T (p.Gly145Ter) c.430G>T (p.Gly144Ter) | gnomAD v4 |
| 6 | g.12294305G>A | CA134217729 | EDN1 | c.434G>A (p.Gly145Glu) c.431G>A (p.Gly144Glu) | dbSNP COSMIC |
| 6 | g.12294305G>C | CA362856981 | EDN1 | c.434G>C (p.Gly145Ala) c.431G>C (p.Gly144Ala) | |
| 6 | g.12294305G= | CA1610829063 | EDN1 | c.434G= (p.Gly145=) c.431G= (p.Gly144=) | |
| 6 | g.12294305G>T | CA362856982 | EDN1 | c.434G>T (p.Gly145Val) c.431G>T (p.Gly144Val) | |
| 6 | g.12294306A>C | CA448427853 | EDN1 | c.435A>C (p.Gly145=) c.432A>C (p.Gly144=) | |
| 6 | g.12294306A>G | CA448427854 | EDN1 | c.435A>G (p.Gly145=) c.432A>G (p.Gly144=) | |
| 6 | g.12294306A>T | CA448427855 | EDN1 | c.435A>T (p.Gly145=) c.432A>T (p.Gly144=) | |
| 6 | g.12294307A>C | CA362856983 | EDN1 | c.436A>C (p.Lys146Gln) c.433A>C (p.Lys145Gln) | |
| 6 | g.12294307A>G | CA362856984 | EDN1 | c.436A>G (p.Lys146Glu) c.433A>G (p.Lys145Glu) | COSMIC |
| 6 | g.12294307A>T | CA362856985 | EDN1 | c.436A>T (p.Lys146Ter) c.433A>T (p.Lys145Ter) | |
| 6 | g.12294308A>C | CA362856988 | EDN1 | c.437A>C (p.Lys146Thr) c.434A>C (p.Lys145Thr) | |
| 6 | g.12294308A>G | CA362856986 | EDN1 | c.437A>G (p.Lys146Arg) c.434A>G (p.Lys145Arg) | |
| 6 | g.12294308A>T | CA362856987 | EDN1 | c.437A>T (p.Lys146Ile) c.434A>T (p.Lys145Ile) | |
| 6 | g.12294309A>C | CA362856989 | EDN1 | c.438A>C (p.Lys146Asn) c.435A>C (p.Lys145Asn) | |
| 6 | g.12294309A>G | CA448427856 | EDN1 | c.438A>G (p.Lys146=) c.435A>G (p.Lys145=) | |
| 6 | g.12294309A>T | CA362856990 | EDN1 | c.438A>T (p.Lys146Asn) c.435A>T (p.Lys145Asn) | |
| 6 | g.12294310G>A | CA362856991 | EDN1 | c.439G>A (p.Asp147Asn) c.436G>A (p.Asp146Asn) | |
| 6 | g.12294310G>C | CA362856992 | EDN1 | c.439G>C (p.Asp147His) c.436G>C (p.Asp146His) | |
| 6 | g.12294310G>T | CA362856993 | EDN1 | c.439G>T (p.Asp147Tyr) c.436G>T (p.Asp146Tyr) | |
| 6 | g.12294311A>C | CA362856996 | EDN1 | c.440A>C (p.Asp147Ala) c.437A>C (p.Asp146Ala) | |
| 6 | g.12294311A>G | CA362856994 | EDN1 | c.440A>G (p.Asp147Gly) c.437A>G (p.Asp146Gly) | |
| 6 | g.12294311A>T | CA362856995 | EDN1 | c.440A>T (p.Asp147Val) c.437A>T (p.Asp146Val) | |
| 6 | g.12294312C>A | CA362856997 | EDN1 | c.441C>A (p.Asp147Glu) c.438C>A (p.Asp146Glu) | |
| 6 | g.12294312C= | CA1610829066 | EDN1 | c.441C= (p.Asp147=) c.438C= (p.Asp146=) | |
| 6 | g.12294312C>G | CA362856998 | EDN1 | c.441C>G (p.Asp147Glu) c.438C>G (p.Asp146Glu) | |
| 6 | g.12294312C>T | CA448427857 | EDN1 | c.441C>T (p.Asp147=) c.438C>T (p.Asp146=) | dbSNP |
| 6 | g.12294314_12294323del | CA2677350209 | EDN1 | c.443_452del (p.Cys148LeufsTer10) c.440_449del (p.Cys147LeufsTer10) | gnomAD v4 |
| 6 | g.12294313T>A | CA362856999 | EDN1 | c.442T>A (p.Cys148Ser) c.439T>A (p.Cys147Ser) | |
| 6 | g.12294313T>C | CA134217731 | EDN1 | c.442T>C (p.Cys148Arg) c.439T>C (p.Cys147Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12294313T>G | CA362857000 | EDN1 | c.442T>G (p.Cys148Gly) c.439T>G (p.Cys147Gly) | |
| 6 | g.12294313T= | CA1610829068 | EDN1 | c.442T= (p.Cys148=) c.439T= (p.Cys147=) | |
| 6 | g.12294314G>A | CA362857001 | EDN1 | c.443G>A (p.Cys148Tyr) c.440G>A (p.Cys147Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294314G>C | CA3638714 | EDN1 | c.443G>C (p.Cys148Ser) c.440G>C (p.Cys147Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294314G= | CA1610829072 | EDN1 | c.443G= (p.Cys148=) c.440G= (p.Cys147=) | |
| 6 | g.12294314G>T | CA362857002 | EDN1 | c.443G>T (p.Cys148Phe) c.440G>T (p.Cys147Phe) | |
| 6 | g.12294315T>A | CA362857003 | EDN1 | c.444T>A (p.Cys148Ter) c.441T>A (p.Cys147Ter) | |
| 6 | g.12294315T>C | CA448427858 | EDN1 | c.444T>C (p.Cys148=) c.441T>C (p.Cys147=) | |
| 6 | g.12294315T>G | CA362857004 | EDN1 | c.444T>G (p.Cys148Trp) c.441T>G (p.Cys147Trp) | |
| 6 | g.12294316T>A | CA362857005 | EDN1 | c.445T>A (p.Ser149Thr) c.442T>A (p.Ser148Thr) | |
| 6 | g.12294316T>C | CA362857006 | EDN1 | c.445T>C (p.Ser149Pro) c.442T>C (p.Ser148Pro) | |
| 6 | g.12294316T>G | CA362857007 | EDN1 | c.445T>G (p.Ser149Ala) c.442T>G (p.Ser148Ala) | |
| 6 | g.12294317C>A | CA3638715 | EDN1 | c.446C>A (p.Ser149Tyr) c.443C>A (p.Ser148Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.12294317C= | CA1610829077 | EDN1 | c.446C= (p.Ser149=) c.443C= (p.Ser148=) | |
| 6 | g.12294317C>G | CA362857008 | EDN1 | c.446C>G (p.Ser149Cys) c.443C>G (p.Ser148Cys) | dbSNP |
| 6 | g.12294317C>T | CA362857009 | EDN1 | c.446C>T (p.Ser149Phe) c.443C>T (p.Ser148Phe) | gnomAD v4 |
| 6 | g.12294318C>A | CA448427859 | EDN1 | c.447C>A (p.Ser149=) c.444C>A (p.Ser148=) | |
| 6 | g.12294318C>G | CA448427860 | EDN1 | c.447C>G (p.Ser149=) c.444C>G (p.Ser148=) | |
| 6 | g.12294318C>T | CA448427861 | EDN1 | c.447C>T (p.Ser149=) c.444C>T (p.Ser148=) | |
| 6 | g.12294319A>C | CA362857010 | EDN1 | c.448A>C (p.Lys150Gln) c.445A>C (p.Lys149Gln) | |
| 6 | g.12294319A>G | CA362857011 | EDN1 | c.448A>G (p.Lys150Glu) c.445A>G (p.Lys149Glu) | |
| 6 | g.12294319A>T | CA362857012 | EDN1 | c.448A>T (p.Lys150Ter) c.445A>T (p.Lys149Ter) | |
| 6 | g.12294320A>C | CA362857013 | EDN1 | c.449A>C (p.Lys150Thr) c.446A>C (p.Lys149Thr) | |
| 6 | g.12294320A>G | CA362857014 | EDN1 | c.449A>G (p.Lys150Arg) c.446A>G (p.Lys149Arg) | |
| 6 | g.12294320A>T | CA362857015 | EDN1 | c.449A>T (p.Lys150Met) c.446A>T (p.Lys149Met) | |
| 6 | g.12294321G>A | CA448427862 | EDN1 | c.450G>A (p.Lys150=) c.447G>A (p.Lys149=) | |
| 6 | g.12294321G>C | CA362857017 | EDN1 | c.450G>C (p.Lys150Asn) c.447G>C (p.Lys149Asn) | |
| 6 | g.12294321G>T | CA362857016 | EDN1 | c.450G>T (p.Lys150Asn) c.447G>T (p.Lys149Asn) | |
| 6 | g.12294322C>A | CA362857018 | EDN1 | c.451C>A (p.Leu151Ile) c.448C>A (p.Leu150Ile) | |
| 6 | g.12294322C= | CA1610829081 | EDN1 | c.451C= (p.Leu151=) c.448C= (p.Leu150=) | |
| 6 | g.12294322C>G | CA362857019 | EDN1 | c.451C>G (p.Leu151Val) c.448C>G (p.Leu150Val) | |
| 6 | g.12294322C>T | CA362857020 | EDN1 | c.451C>T (p.Leu151Phe) c.448C>T (p.Leu150Phe) | dbSNP gnomAD v4 |
| 6 | g.12294323T>A | CA362857021 | EDN1 | c.452T>A (p.Leu151His) c.449T>A (p.Leu150His) | |
| 6 | g.12294323T>C | CA362857022 | EDN1 | c.452T>C (p.Leu151Pro) c.449T>C (p.Leu150Pro) | |
| 6 | g.12294323T>G | CA362857023 | EDN1 | c.452T>G (p.Leu151Arg) c.449T>G (p.Leu150Arg) | |
| 6 | g.12294324T>A | CA448427863 | EDN1 | c.453T>A (p.Leu151=) c.450T>A (p.Leu150=) | |
| 6 | g.12294324T>C | CA448427864 | EDN1 | c.453T>C (p.Leu151=) c.450T>C (p.Leu150=) | |
| 6 | g.12294324T>G | CA448427865 | EDN1 | c.453T>G (p.Leu151=) c.450T>G (p.Leu150=) | |
| 6 | g.12294325G>A | CA362857024 | EDN1 | c.454G>A (p.Gly152Arg) c.451G>A (p.Gly151Arg) | COSMIC |
| 6 | g.12294325G>C | CA362857026 | EDN1 | c.454G>C (p.Gly152Arg) c.451G>C (p.Gly151Arg) | |
| 6 | g.12294325G>T | CA362857025 | EDN1 | c.454G>T (p.Gly152Trp) c.451G>T (p.Gly151Trp) | |
| 6 | g.12294326G>A | CA362857027 | EDN1 | c.455G>A (p.Gly152Glu) c.452G>A (p.Gly151Glu) | gnomAD v4 |
| 6 | g.12294326G>C | CA362857028 | EDN1 | c.455G>C (p.Gly152Ala) c.452G>C (p.Gly151Ala) | |
| 6 | g.12294326G>T | CA362857029 | EDN1 | c.455G>T (p.Gly152Val) c.452G>T (p.Gly151Val) | |
| 6 | g.12294327G>A | CA448427866 | EDN1 | c.456G>A (p.Gly152=) c.453G>A (p.Gly151=) | gnomAD v4 |
| 6 | g.12294327G>C | CA448427867 | EDN1 | c.456G>C (p.Gly152=) c.453G>C (p.Gly151=) | COSMIC |
| 6 | g.12294327G>T | CA448427868 | EDN1 | c.456G>T (p.Gly152=) c.453G>T (p.Gly151=) | COSMIC |
| 6 | g.12294328A= | CA1610829085 | EDN1 | c.457A= (p.Lys153=) c.454A= (p.Lys152=) | |
| 6 | g.12294328A>C | CA362857030 | EDN1 | c.457A>C (p.Lys153Gln) c.454A>C (p.Lys152Gln) | |
| 6 | g.12294328A>G | CA3638716 | EDN1 | c.457A>G (p.Lys153Glu) c.454A>G (p.Lys152Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294328A>T | CA362857031 | EDN1 | c.457A>T (p.Lys153Ter) c.454A>T (p.Lys152Ter) | |
| 6 | g.12294332del | CA645547880 | EDN1 | c.461del (p.Lys154SerfsTer7) c.458del (p.Lys153SerfsTer7) | COSMIC |
| 6 | g.12294329A>C | CA362857032 | EDN1 | c.458A>C (p.Lys153Thr) c.455A>C (p.Lys152Thr) | |
| 6 | g.12294329A>G | CA362857033 | EDN1 | c.458A>G (p.Lys153Arg) c.455A>G (p.Lys152Arg) | |
| 6 | g.12294329A>T | CA362857034 | EDN1 | c.458A>T (p.Lys153Ile) c.455A>T (p.Lys152Ile) | gnomAD v4 |
| 6 | g.12294330A= | CA1610829087 | EDN1 | c.459A= (p.Lys153=) c.456A= (p.Lys152=) | |
| 6 | g.12294330A>C | CA362857035 | EDN1 | c.459A>C (p.Lys153Asn) c.456A>C (p.Lys152Asn) | |
| 6 | g.12294330A>G | CA448427870 | EDN1 | c.459A>G (p.Lys153=) c.456A>G (p.Lys152=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294330A>T | CA362857036 | EDN1 | c.459A>T (p.Lys153Asn) c.456A>T (p.Lys152Asn) | |
| 6 | g.12294331A>C | CA362857037 | EDN1 | c.460A>C (p.Lys154Gln) c.457A>C (p.Lys153Gln) | |
| 6 | g.12294331A>G | CA362857039 | EDN1 | c.460A>G (p.Lys154Glu) c.457A>G (p.Lys153Glu) | |
| 6 | g.12294331A>T | CA362857038 | EDN1 | c.460A>T (p.Lys154Ter) c.457A>T (p.Lys153Ter) | |
| 6 | g.12294332A>C | CA362857040 | EDN1 | c.461A>C (p.Lys154Thr) c.458A>C (p.Lys153Thr) | |
| 6 | g.12294332A>G | CA362857042 | EDN1 | c.461A>G (p.Lys154Arg) c.458A>G (p.Lys153Arg) | |
| 6 | g.12294332A>T | CA362857041 | EDN1 | c.461A>T (p.Lys154Met) c.458A>T (p.Lys153Met) | |
| 6 | g.12294333G>A | CA448427871 | EDN1 | c.462G>A (p.Lys154=) c.459G>A (p.Lys153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.12294333G>C | CA362857043 | EDN1 | c.462G>C (p.Lys154Asn) c.459G>C (p.Lys153Asn) | dbSNP gnomAD v4 |
| 6 | g.12294333G= | CA1610829092 | EDN1 | c.462G= (p.Lys154=) c.459G= (p.Lys153=) | |
| 6 | g.12294333G>T | CA362857044 | EDN1 | c.462G>T (p.Lys154Asn) c.459G>T (p.Lys153Asn) | |
| 6 | g.12294334T>A | CA362857045 | EDN1 | c.463T>A (p.Cys155Ser) c.460T>A (p.Cys154Ser) | |
| 6 | g.12294334T>C | CA362857046 | EDN1 | c.463T>C (p.Cys155Arg) c.460T>C (p.Cys154Arg) | dbSNP gnomAD v4 |
| 6 | g.12294334T>G | CA362857047 | EDN1 | c.463T>G (p.Cys155Gly) c.460T>G (p.Cys154Gly) | |
| 6 | g.12294334T= | CA1610829095 | EDN1 | c.463T= (p.Cys155=) c.460T= (p.Cys154=) | |
| 6 | g.12294335G>A | CA3638717 | EDN1 | c.464G>A (p.Cys155Tyr) c.461G>A (p.Cys154Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294335G>C | CA362857048 | EDN1 | c.464G>C (p.Cys155Ser) c.461G>C (p.Cys154Ser) | |
| 6 | g.12294335G= | CA1610829097 | EDN1 | c.464G= (p.Cys155=) c.461G= (p.Cys154=) | |
| 6 | g.12294335G>T | CA362857049 | EDN1 | c.464G>T (p.Cys155Phe) c.461G>T (p.Cys154Phe) | |
| 6 | g.12294336T>A | CA362857050 | EDN1 | c.465T>A (p.Cys155Ter) c.462T>A (p.Cys154Ter) | |
| 6 | g.12294336T>C | CA448427873 | EDN1 | c.465T>C (p.Cys155=) c.462T>C (p.Cys154=) | |
| 6 | g.12294336T>G | CA362857051 | EDN1 | c.465T>G (p.Cys155Trp) c.462T>G (p.Cys154Trp) | |
| 6 | g.12294337A= | CA1610829101 | EDN1 | c.466A= (p.Ile156=) c.463A= (p.Ile155=) | |
| 6 | g.12294337A>C | CA362857052 | EDN1 | c.466A>C (p.Ile156Leu) c.463A>C (p.Ile155Leu) | |
| 6 | g.12294337A>G | CA362857053 | EDN1 | c.466A>G (p.Ile156Val) c.463A>G (p.Ile155Val) | |
| 6 | g.12294337A>T | CA362857054 | EDN1 | c.466A>T (p.Ile156Phe) c.463A>T (p.Ile155Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294338T>A | CA362857055 | EDN1 | c.467T>A (p.Ile156Asn) c.464T>A (p.Ile155Asn) | |
| 6 | g.12294338T>C | CA362857057 | EDN1 | c.467T>C (p.Ile156Thr) c.464T>C (p.Ile155Thr) | gnomAD v4 |
| 6 | g.12294338T>G | CA362857056 | EDN1 | c.467T>G (p.Ile156Ser) c.464T>G (p.Ile155Ser) | |
| 6 | g.12294339T>A | CA448427874 | EDN1 | c.468T>A (p.Ile156=) c.465T>A (p.Ile155=) | |
| 6 | g.12294339T>C | CA448427875 | EDN1 | c.468T>C (p.Ile156=) c.465T>C (p.Ile155=) | |
| 6 | g.12294339T>G | CA362857058 | EDN1 | c.468T>G (p.Ile156Met) c.465T>G (p.Ile155Met) | |
| 6 | g.12294340T>A | CA362857059 | EDN1 | c.469T>A (p.Tyr157Asn) c.466T>A (p.Tyr156Asn) | |
| 6 | g.12294340T>C | CA362857060 | EDN1 | c.469T>C (p.Tyr157His) c.466T>C (p.Tyr156His) | |
| 6 | g.12294340T>G | CA362857061 | EDN1 | c.469T>G (p.Tyr157Asp) c.466T>G (p.Tyr156Asp) | |
| 6 | g.12294341A>C | CA362857062 | EDN1 | c.470A>C (p.Tyr157Ser) c.467A>C (p.Tyr156Ser) | |
| 6 | g.12294341A>G | CA362857063 | EDN1 | c.470A>G (p.Tyr157Cys) c.467A>G (p.Tyr156Cys) | |
| 6 | g.12294341A>T | CA362857064 | EDN1 | c.470A>T (p.Tyr157Phe) c.467A>T (p.Tyr156Phe) | |
| 6 | g.12294342T>A | CA362857065 | EDN1 | c.471T>A (p.Tyr157Ter) c.468T>A (p.Tyr156Ter) | |
| 6 | g.12294342T>C | CA448427876 | EDN1 | c.471T>C (p.Tyr157=) c.468T>C (p.Tyr156=) | |
| 6 | g.12294342T>G | CA362857066 | EDN1 | c.471T>G (p.Tyr157Ter) c.468T>G (p.Tyr156Ter) | |
| 6 | g.12294343C>A | CA362857068 | EDN1 | c.472C>A (p.Gln158Lys) c.469C>A (p.Gln157Lys) | |
| 6 | g.12294343C= | CA1610829103 | EDN1 | c.472C= (p.Gln158=) c.469C= (p.Gln157=) | |
| 6 | g.12294343C>G | CA362857067 | EDN1 | c.472C>G (p.Gln158Glu) c.469C>G (p.Gln157Glu) | |
| 6 | g.12294343C>T | CA3638718 | EDN1 | c.472C>T (p.Gln158Ter) c.469C>T (p.Gln157Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12294344A>C | CA362857069 | EDN1 | c.473A>C (p.Gln158Pro) c.470A>C (p.Gln157Pro) | gnomAD v4 |
| 6 | g.12294344A>G | CA362857070 | EDN1 | c.473A>G (p.Gln158Arg) c.470A>G (p.Gln157Arg) | gnomAD v4 |
| 6 | g.12294344A>T | CA362857071 | EDN1 | c.473A>T (p.Gln158Leu) c.470A>T (p.Gln157Leu) | |
| 6 | g.12294345G>A | CA448427877 | EDN1 | c.474G>A (p.Gln158=) c.471G>A (p.Gln157=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12294345G>C | CA362857072 | EDN1 | c.474G>C (p.Gln158His) c.471G>C (p.Gln157His) | |
| 6 | g.12294345G= | CA1610829106 | EDN1 | c.474G= (p.Gln158=) c.471G= (p.Gln157=) | |
| 6 | g.12294345G>T | CA362857073 | EDN1 | c.474G>T (p.Gln158His) c.471G>T (p.Gln157His) | |
| 6 | g.12294346C>A | CA362857076 | EDN1 | c.475C>A (p.Gln159Lys) c.472C>A (p.Gln158Lys) | |
| 6 | g.12294346C>G | CA362857075 | EDN1 | c.475C>G (p.Gln159Glu) c.472C>G (p.Gln158Glu) | |
| 6 | g.12294346C>T | CA362857074 | EDN1 | c.475C>T (p.Gln159Ter) c.472C>T (p.Gln158Ter) | |
| 6 | g.12294347A>C | CA362857077 | EDN1 | c.476A>C (p.Gln159Pro) c.473A>C (p.Gln158Pro) | |
| 6 | g.12294347A>G | CA362857078 | EDN1 | c.476A>G (p.Gln159Arg) c.473A>G (p.Gln158Arg) | |
| 6 | g.12294347A>T | CA362857079 | EDN1 | c.476A>T (p.Gln159Leu) c.473A>T (p.Gln158Leu) | |
| 6 | g.12294348G>A | CA3638719 | EDN1 | c.477G>A (p.Gln159=) c.474G>A (p.Gln158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12294348G>C | CA362857080 | EDN1 | c.477G>C (p.Gln159His) c.474G>C (p.Gln158His) | |
| 6 | g.12294348G= | CA1610829109 | EDN1 | c.477G= (p.Gln159=) c.474G= (p.Gln158=) | |
| 6 | g.12294348G>T | CA362857081 | EDN1 | c.477G>T (p.Gln159His) c.474G>T (p.Gln158His) | |
| 6 | g.12294349T>A | CA362857082 | EDN1 | c.478T>A (p.Leu160Ile) c.475T>A (p.Leu159Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294349T>C | CA3638720 | EDN1 | c.478T>C (p.Leu160=) c.475T>C (p.Leu159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294349T>G | CA362857083 | EDN1 | c.478T>G (p.Leu160Val) c.475T>G (p.Leu159Val) | |
| 6 | g.12294349T= | CA1610829114 | EDN1 | c.478T= (p.Leu160=) c.475T= (p.Leu159=) | |
| 6 | g.12294350T>A | CA362857084 | EDN1 | c.479T>A (p.Leu160Ter) c.476T>A (p.Leu159Ter) | |
| 6 | g.12294350T>C | CA362857085 | EDN1 | c.479T>C (p.Leu160Ser) c.476T>C (p.Leu159Ser) | |
| 6 | g.12294350T>G | CA362857086 | EDN1 | c.479T>G (p.Leu160Ter) c.476T>G (p.Leu159Ter) | |
| 6 | g.12294351A= | CA1610829121 | EDN1 | c.480A= (p.Leu160=) c.477A= (p.Leu159=) | |
| 6 | g.12294351A>C | CA3638721 | EDN1 | c.480A>C (p.Leu160Phe) c.477A>C (p.Leu159Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294351A>G | CA448427878 | EDN1 | c.480A>G (p.Leu160=) c.477A>G (p.Leu159=) | |
| 6 | g.12294351A>T | CA362857087 | EDN1 | c.480A>T (p.Leu160Phe) c.477A>T (p.Leu159Phe) | gnomAD v4 |
| 6 | g.12294352G>A | CA134217740 | EDN1 | c.481G>A (p.Val161Met) c.478G>A (p.Val160Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294352G>C | CA362857088 | EDN1 | c.481G>C (p.Val161Leu) c.478G>C (p.Val160Leu) | |
| 6 | g.12294352G= | CA1610829125 | EDN1 | c.481G= (p.Val161=) c.478G= (p.Val160=) | |
| 6 | g.12294352G>T | CA362857089 | EDN1 | c.481G>T (p.Val161Leu) c.478G>T (p.Val160Leu) | |
| 6 | g.12294353T>A | CA362857090 | EDN1 | c.482T>A (p.Val161Glu) c.479T>A (p.Val160Glu) | |
| 6 | g.12294353T>C | CA3638722 | EDN1 | c.482T>C (p.Val161Ala) c.479T>C (p.Val160Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294353T>G | CA362857091 | EDN1 | c.482T>G (p.Val161Gly) c.479T>G (p.Val160Gly) | |
| 6 | g.12294353T= | CA1610829126 | EDN1 | c.482T= (p.Val161=) c.479T= (p.Val160=) | |
| 6 | g.12294354G>A | CA448427879 | EDN1 | c.483G>A (p.Val161=) c.480G>A (p.Val160=) | |
| 6 | g.12294354G>C | CA448427880 | EDN1 | c.483G>C (p.Val161=) c.480G>C (p.Val160=) | |
| 6 | g.12294354G>T | CA448427881 | EDN1 | c.483G>T (p.Val161=) c.480G>T (p.Val160=) | |
| 6 | g.12294355A>C | CA448427882 | EDN1 | c.484A>C (p.Arg162=) c.481A>C (p.Arg161=) | |
| 6 | g.12294355A>G | CA362857093 | EDN1 | c.484A>G (p.Arg162Gly) c.481A>G (p.Arg161Gly) | |
| 6 | g.12294355A>T | CA362857092 | EDN1 | c.484A>T (p.Arg162Ter) c.481A>T (p.Arg161Ter) | |
| 6 | g.12294356G>A | CA362857094 | EDN1 | c.485G>A (p.Arg162Lys) c.482G>A (p.Arg161Lys) | |
| 6 | g.12294356G>C | CA362857095 | EDN1 | c.485G>C (p.Arg162Thr) c.482G>C (p.Arg161Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12294356G>T | CA362857096 | EDN1 | c.485G>T (p.Arg162Ile) c.482G>T (p.Arg161Ile) | |
| 6 | g.12294357A= | CA1610829128 | EDN1 | c.486A= (p.Arg162=) c.483A= (p.Arg161=) | |
| 6 | g.12294357A>C | CA362857097 | EDN1 | c.486A>C (p.Arg162Ser) c.483A>C (p.Arg161Ser) | COSMIC |
| 6 | g.12294357A>G | CA3638723 | EDN1 | c.486A>G (p.Arg162=) c.483A>G (p.Arg161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12294357A>T | CA362857098 | EDN1 | c.486A>T (p.Arg162Ser) c.483A>T (p.Arg161Ser) | |
| 6 | g.12294358G>A | CA134217744 | EDN1 | c.487G>A (p.Gly163Arg) c.484G>A (p.Gly162Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294358G>C | CA362857099 | EDN1 | c.487G>C (p.Gly163Arg) c.484G>C (p.Gly162Arg) | |
| 6 | g.12294358G= | CA1610829133 | EDN1 | c.487G= (p.Gly163=) c.484G= (p.Gly162=) | |
| 6 | g.12294358G>T | CA362857100 | EDN1 | c.487G>T (p.Gly163Ter) c.484G>T (p.Gly162Ter) | |
| 6 | g.12294359G>A | CA3638724 | EDN1 | c.488G>A (p.Gly163Glu) c.485G>A (p.Gly162Glu) | dbSNP ExAC |
| 6 | g.12294359G>C | CA362857101 | EDN1 | c.488G>C (p.Gly163Ala) c.485G>C (p.Gly162Ala) | |
| 6 | g.12294359G= | CA1610829136 | EDN1 | c.488G= (p.Gly163=) c.485G= (p.Gly162=) | |
| 6 | g.12294359G>T | CA362857102 | EDN1 | c.488G>T (p.Gly163Val) c.485G>T (p.Gly162Val) | |
| 6 | g.12294360A>C | CA448427883 | EDN1 | c.489A>C (p.Gly163=) c.486A>C (p.Gly162=) | |
| 6 | g.12294360A>G | CA448427885 | EDN1 | c.489A>G (p.Gly163=) c.486A>G (p.Gly162=) | |
| 6 | g.12294360A>T | CA448427884 | EDN1 | c.489A>T (p.Gly163=) c.486A>T (p.Gly162=) | |
| 6 | g.12294361A>C | CA448427886 | EDN1 | c.490A>C (p.Arg164=) c.487A>C (p.Arg163=) | |
| 6 | g.12294361A>G | CA362857103 | EDN1 | c.490A>G (p.Arg164Gly) c.487A>G (p.Arg163Gly) | |
| 6 | g.12294361A>T | CA362857104 | EDN1 | c.490A>T (p.Arg164Ter) c.487A>T (p.Arg163Ter) | |
| 6 | g.12294362G>A | CA362857107 | EDN1 | c.491G>A (p.Arg164Lys) c.488G>A (p.Arg163Lys) | |
| 6 | g.12294362G>C | CA362857106 | EDN1 | c.491G>C (p.Arg164Thr) c.488G>C (p.Arg163Thr) | |
| 6 | g.12294362G= | CA1610829141 | EDN1 | c.491G= (p.Arg164=) c.488G= (p.Arg163=) | |
| 6 | g.12294362G>T | CA362857105 | EDN1 | c.491G>T (p.Arg164Ile) c.488G>T (p.Arg163Ile) | gnomAD v4 |
| 6 | g.12294362_12294370delinsGAAAAATCA | CA1610829139 | EDN1 | c.491_499delinsGAAAAATCA (p.Arg164=) c.488_496delinsGAAAAATCA (p.Arg163=) | |
| 6 | g.12294363A>C | CA362857108 | EDN1 | c.492A>C (p.Arg164Ser) c.489A>C (p.Arg163Ser) | |
| 6 | g.12294363A>G | CA448427887 | EDN1 | c.492A>G (p.Arg164=) c.489A>G (p.Arg163=) | |
| 6 | g.12294363A>T | CA362857109 | EDN1 | c.492A>T (p.Arg164Ser) c.489A>T (p.Arg163Ser) | |
| 6 | g.12294367dup | CA565608527 | EDN1 | c.496dup (p.Ile166AsnfsTer27) c.493dup (p.Ile165AsnfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294363_12294370del | CA3638725 | EDN1 | c.492_499del (p.Ile166LysfsTer24) c.489_496del (p.Ile165LysfsTer24) | dbSNP ExAC |
| 6 | g.12294364A= | CA1610829145 | EDN1 | c.493A= (p.Lys165=) c.490A= (p.Lys164=) | |
| 6 | g.12294364A>C | CA362857110 | EDN1 | c.493A>C (p.Lys165Gln) c.490A>C (p.Lys164Gln) | dbSNP |
| 6 | g.12294364A>G | CA362857111 | EDN1 | c.493A>G (p.Lys165Glu) c.490A>G (p.Lys164Glu) | |
| 6 | g.12294364A>T | CA362857112 | EDN1 | c.493A>T (p.Lys165Ter) c.490A>T (p.Lys164Ter) | |
| 6 | g.12294365A>C | CA362857113 | EDN1 | c.494A>C (p.Lys165Thr) c.491A>C (p.Lys164Thr) | |
| 6 | g.12294365A>G | CA362857114 | EDN1 | c.494A>G (p.Lys165Arg) c.491A>G (p.Lys164Arg) | |
| 6 | g.12294365A>T | CA362857115 | EDN1 | c.494A>T (p.Lys165Ile) c.491A>T (p.Lys164Ile) | |
| 6 | g.12294366A>C | CA362857116 | EDN1 | c.495A>C (p.Lys165Asn) c.492A>C (p.Lys164Asn) | gnomAD v4 |
| 6 | g.12294366A>G | CA448427888 | EDN1 | c.495A>G (p.Lys165=) c.492A>G (p.Lys164=) | |
| 6 | g.12294366A>T | CA362857117 | EDN1 | c.495A>T (p.Lys165Asn) c.492A>T (p.Lys164Asn) | |
| 6 | g.12294367A>C | CA362857118 | EDN1 | c.496A>C (p.Ile166Leu) c.493A>C (p.Ile165Leu) | |
| 6 | g.12294367A>G | CA362857119 | EDN1 | c.496A>G (p.Ile166Val) c.493A>G (p.Ile165Val) | gnomAD v4 COSMIC |
| 6 | g.12294367A>T | CA362857120 | EDN1 | c.496A>T (p.Ile166Phe) c.493A>T (p.Ile165Phe) | |
| 6 | g.12294368T>A | CA362857122 | EDN1 | c.497T>A (p.Ile166Asn) c.494T>A (p.Ile165Asn) | |
| 6 | g.12294368T>C | CA134217747 | EDN1 | c.497T>C (p.Ile166Thr) c.494T>C (p.Ile165Thr) | dbSNP gnomAD v2 |
| 6 | g.12294368T>G | CA362857121 | EDN1 | c.497T>G (p.Ile166Ser) c.494T>G (p.Ile165Ser) | |
| 6 | g.12294368T= | CA1610829147 | EDN1 | c.497T= (p.Ile166=) c.494T= (p.Ile165=) | |
| 6 | g.12294369C>A | CA448427890 | EDN1 | c.498C>A (p.Ile166=) c.495C>A (p.Ile165=) | |
| 6 | g.12294369C>G | CA362857123 | EDN1 | c.498C>G (p.Ile166Met) c.495C>G (p.Ile165Met) | |
| 6 | g.12294369C>T | CA448427889 | EDN1 | c.498C>T (p.Ile166=) c.495C>T (p.Ile165=) | gnomAD v4 |
| 6 | g.12294369_12294372delinsCAGA | CA1610829149 | EDN1 | c.498_501delinsCAGA (p.Ile166=) c.495_498delinsCAGA (p.Ile165=) | |
| 6 | g.12294370A= | CA1610829153 | EDN1 | c.499A= (p.Arg167=) c.496A= (p.Arg166=) | |
| 6 | g.12294370A>C | CA448427891 | EDN1 | c.499A>C (p.Arg167=) c.496A>C (p.Arg166=) | dbSNP |
| 6 | g.12294370A>G | CA362857124 | EDN1 | c.499A>G (p.Arg167Gly) c.496A>G (p.Arg166Gly) | gnomAD v4 |
| 6 | g.12294370A>T | CA362857125 | EDN1 | c.499A>T (p.Arg167Ter) c.496A>T (p.Arg166Ter) | |
| 6 | g.12294375_12294377del | CA3638726 | EDN1 | c.504_506del (p.Arg168del) c.501_503del (p.Arg167del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.12294371G>A | CA362857126 | EDN1 | c.500G>A (p.Arg167Lys) c.497G>A (p.Arg166Lys) | |
| 6 | g.12294371G>C | CA362857127 | EDN1 | c.500G>C (p.Arg167Thr) c.497G>C (p.Arg166Thr) | |
| 6 | g.12294371G>T | CA362857128 | EDN1 | c.500G>T (p.Arg167Ile) c.497G>T (p.Arg166Ile) | |
| 6 | g.12294371_12294375delinsGAAGA | CA1610829161 | EDN1 | c.500_504delinsGAAGA (p.Arg167=) c.497_501delinsGAAGA (p.Arg166=) | |
| 6 | g.12294372A>C | CA362857129 | EDN1 | c.501A>C (p.Arg167Ser) c.498A>C (p.Arg166Ser) | |
| 6 | g.12294372A>G | CA448427892 | EDN1 | c.501A>G (p.Arg167=) c.498A>G (p.Arg166=) | gnomAD v4 |
| 6 | g.12294372A>T | CA362857130 | EDN1 | c.501A>T (p.Arg167Ser) c.498A>T (p.Arg166Ser) | |
| 6 | g.12294373_12294376del | CA3638727 | EDN1 | c.502_505del (p.Arg168ValfsTer6) c.499_502del (p.Arg167ValfsTer6) | dbSNP ExAC |
| 6 | g.12294373A>C | CA448427893 | EDN1 | c.502A>C (p.Arg168=) c.499A>C (p.Arg167=) | |
| 6 | g.12294373A>G | CA362857131 | EDN1 | c.502A>G (p.Arg168Gly) c.499A>G (p.Arg167Gly) | |
| 6 | g.12294373A>T | CA362857132 | EDN1 | c.502A>T (p.Arg168Ter) c.499A>T (p.Arg167Ter) | |
| 6 | g.12294374G>A | CA362857135 | EDN1 | c.503G>A (p.Arg168Lys) c.500G>A (p.Arg167Lys) | |
| 6 | g.12294374G>C | CA362857134 | EDN1 | c.503G>C (p.Arg168Thr) c.500G>C (p.Arg167Thr) | |
| 6 | g.12294374G>T | CA362857133 | EDN1 | c.503G>T (p.Arg168Ile) c.500G>T (p.Arg167Ile) | gnomAD v4 |
| 6 | g.12294375A= | CA1610829167 | EDN1 | c.504A= (p.Arg168=) c.501A= (p.Arg167=) | |
| 6 | g.12294375A>C | CA3638728 | EDN1 | c.504A>C (p.Arg168Ser) c.501A>C (p.Arg167Ser) | dbSNP ExAC gnomAD v4 |
| 6 | g.12294375A>G | CA448427894 | EDN1 | c.504A>G (p.Arg168=) c.501A>G (p.Arg167=) | |
| 6 | g.12294375A>T | CA362857136 | EDN1 | c.504A>T (p.Arg168Ser) c.501A>T (p.Arg167Ser) | gnomAD v4 |
| 6 | g.12294376A= | CA1610829169 | EDN1 | c.505A= (p.Ser169=) c.502A= (p.Ser168=) | |
| 6 | g.12294376A>C | CA362857137 | EDN1 | c.505A>C (p.Ser169Arg) c.502A>C (p.Ser168Arg) | |
| 6 | g.12294376A>G | CA362857138 | EDN1 | c.505A>G (p.Ser169Gly) c.502A>G (p.Ser168Gly) | |
| 6 | g.12294376A>T | CA362857139 | EDN1 | c.505A>T (p.Ser169Cys) c.502A>T (p.Ser168Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294377G>A | CA362857140 | EDN1 | c.506G>A (p.Ser169Asn) c.503G>A (p.Ser168Asn) | |
| 6 | g.12294377G>C | CA362857141 | EDN1 | c.506G>C (p.Ser169Thr) c.503G>C (p.Ser168Thr) | |
| 6 | g.12294377G>T | CA362857142 | EDN1 | c.506G>T (p.Ser169Ile) c.503G>T (p.Ser168Ile) | gnomAD v4 |
| 6 | g.12294378T>A | CA362857143 | EDN1 | c.507T>A (p.Ser169Arg) c.504T>A (p.Ser168Arg) | |
| 6 | g.12294378T>C | CA448427895 | EDN1 | c.507T>C (p.Ser169=) c.504T>C (p.Ser168=) | gnomAD v4 |
| 6 | g.12294378T>G | CA362857144 | EDN1 | c.507T>G (p.Ser169Arg) c.504T>G (p.Ser168Arg) | |
| 6 | g.12294379T>A | CA362857145 | EDN1 | c.508T>A (p.Ser170Thr) c.505T>A (p.Ser169Thr) | |
| 6 | g.12294379T>C | CA362857146 | EDN1 | c.508T>C (p.Ser170Pro) c.505T>C (p.Ser169Pro) | gnomAD v4 |
| 6 | g.12294379T>G | CA362857147 | EDN1 | c.508T>G (p.Ser170Ala) c.505T>G (p.Ser169Ala) | |
| 6 | g.12294380C>A | CA362857149 | EDN1 | c.509C>A (p.Ser170Ter) c.506C>A (p.Ser169Ter) | gnomAD v4 |
| 6 | g.12294380C>G | CA362857150 | EDN1 | c.509C>G (p.Ser170Ter) c.506C>G (p.Ser169Ter) | |
| 6 | g.12294380C>T | CA362857148 | EDN1 | c.509C>T (p.Ser170Leu) c.506C>T (p.Ser169Leu) | |
| 6 | g.12294381A= | CA1610829171 | EDN1 | c.510A= (p.Ser170=) c.507A= (p.Ser169=) | |
| 6 | g.12294381A>C | CA448427896 | EDN1 | c.510A>C (p.Ser170=) c.507A>C (p.Ser169=) | |
| 6 | g.12294381A>G | CA448427897 | EDN1 | c.510A>G (p.Ser170=) c.507A>G (p.Ser169=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294381A>T | CA448427898 | EDN1 | c.510A>T (p.Ser170=) c.507A>T (p.Ser169=) | |
| 6 | g.12294382G>A | CA362857151 | EDN1 | c.511G>A (p.Glu171Lys) c.508G>A (p.Glu170Lys) | |
| 6 | g.12294382G>C | CA362857153 | EDN1 | c.511G>C (p.Glu171Gln) c.508G>C (p.Glu170Gln) | |
| 6 | g.12294382G>T | CA362857152 | EDN1 | c.511G>T (p.Glu171Ter) c.508G>T (p.Glu170Ter) | |
| 6 | g.12294383A>C | CA362857154 | EDN1 | c.512A>C (p.Glu171Ala) c.509A>C (p.Glu170Ala) | |
| 6 | g.12294383A>G | CA362857155 | EDN1 | c.512A>G (p.Glu171Gly) c.509A>G (p.Glu170Gly) | |
| 6 | g.12294383A>T | CA362857156 | EDN1 | c.512A>T (p.Glu171Val) c.509A>T (p.Glu170Val) | |
| 6 | g.12294384G>A | CA448427899 | EDN1 | c.513G>A (p.Glu171=) c.510G>A (p.Glu170=) | gnomAD v4 |
| 6 | g.12294384G>C | CA362857157 | EDN1 | c.513G>C (p.Glu171Asp) c.510G>C (p.Glu170Asp) | |
| 6 | g.12294384G>T | CA362857158 | EDN1 | c.513G>T (p.Glu171Asp) c.510G>T (p.Glu170Asp) | |
| 6 | g.12294385G>A | CA362857159 | EDN1 | c.514G>A (p.Glu172Lys) c.511G>A (p.Glu171Lys) | |
| 6 | g.12294385G>C | CA362857160 | EDN1 | c.514G>C (p.Glu172Gln) c.511G>C (p.Glu171Gln) | |
| 6 | g.12294385G>T | CA362857161 | EDN1 | c.514G>T (p.Glu172Ter) c.511G>T (p.Glu171Ter) | |
| 6 | g.12294386A= | CA1610829172 | EDN1 | c.515A= (p.Glu172=) c.512A= (p.Glu171=) | |
| 6 | g.12294386A>C | CA362857162 | EDN1 | c.515A>C (p.Glu172Ala) c.512A>C (p.Glu171Ala) | |
| 6 | g.12294386A>G | CA3638729 | EDN1 | c.515A>G (p.Glu172Gly) c.512A>G (p.Glu171Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294386A>T | CA362857163 | EDN1 | c.515A>T (p.Glu172Val) c.512A>T (p.Glu171Val) | |
| 6 | g.12294387A= | CA1610829174 | EDN1 | c.516A= (p.Glu172=) c.513A= (p.Glu171=) | |
| 6 | g.12294387A>C | CA362857164 | EDN1 | c.516A>C (p.Glu172Asp) c.513A>C (p.Glu171Asp) | |
| 6 | g.12294387A>G | CA448427900 | EDN1 | c.516A>G (p.Glu172=) c.513A>G (p.Glu171=) | |
| 6 | g.12294387A>T | CA362857165 | EDN1 | c.516A>T (p.Glu172Asp) c.513A>T (p.Glu171Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12294388C>A | CA3638730 | EDN1 | c.517C>A (p.His173Asn) c.514C>A (p.His172Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12294388C= | CA1610829180 | EDN1 | c.517C= (p.His173=) c.514C= (p.His172=) | |
| 6 | g.12294388C>G | CA362857167 | EDN1 | c.517C>G (p.His173Asp) c.514C>G (p.His172Asp) | |
| 6 | g.12294388C>T | CA362857166 | EDN1 | c.517C>T (p.His173Tyr) c.514C>T (p.His172Tyr) | gnomAD v4 |