Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.12292478C>A | CA362856429 | EDN1 | c.202C>A (p.His68Asn) c.199C>A (p.His67Asn) | |
6 | g.12292478C>G | CA362856430 | EDN1 | c.202C>G (p.His68Asp) c.199C>G (p.His67Asp) | |
6 | g.12292478C>T | CA362856431 | EDN1 | c.202C>T (p.His68Tyr) c.199C>T (p.His67Tyr) | |
6 | g.12292479A>C | CA362856433 | EDN1 | c.203A>C (p.His68Pro) c.200A>C (p.His67Pro) | |
6 | g.12292479A>G | CA362856434 | EDN1 | c.203A>G (p.His68Arg) c.200A>G (p.His67Arg) | |
6 | g.12292479A>T | CA362856432 | EDN1 | c.203A>T (p.His68Leu) c.200A>T (p.His67Leu) | |
6 | g.12292480C>A | CA362856436 | EDN1 | c.204C>A (p.His68Gln) c.201C>A (p.His67Gln) | |
6 | g.12292480C= | CA1610843936 | EDN1 | c.204C= (p.His68=) c.201C= (p.His67=) | |
6 | g.12292480C>G | CA362856435 | EDN1 | c.204C>G (p.His68Gln) c.201C>G (p.His67Gln) | |
6 | g.12292480C>T | CA448427722 | EDN1 | c.204C>T (p.His68=) c.201C>T (p.His67=) | dbSNP |
6 | g.12292481C>A | CA362856437 | EDN1 | c.205C>A (p.Leu69Met) c.202C>A (p.Leu68Met) | |
6 | g.12292481C= | CA1610843938 | EDN1 | c.205C= (p.Leu69=) c.202C= (p.Leu68=) | |
6 | g.12292481C>G | CA362856438 | EDN1 | c.205C>G (p.Leu69Val) c.202C>G (p.Leu68Val) | |
6 | g.12292481C>T | CA3638646 | EDN1 | c.205C>T (p.Leu69=) c.202C>T (p.Leu68=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292482T>A | CA362856439 | EDN1 | c.206T>A (p.Leu69Gln) c.203T>A (p.Leu68Gln) | |
6 | g.12292482T>C | CA362856440 | EDN1 | c.206T>C (p.Leu69Pro) c.203T>C (p.Leu68Pro) | |
6 | g.12292482T>G | CA362856441 | EDN1 | c.206T>G (p.Leu69Arg) c.203T>G (p.Leu68Arg) | |
6 | g.12292483G>A | CA448427725 | EDN1 | c.207G>A (p.Leu69=) c.204G>A (p.Leu68=) | |
6 | g.12292483G>C | CA448427726 | EDN1 | c.207G>C (p.Leu69=) c.204G>C (p.Leu68=) | |
6 | g.12292483G>T | CA448427727 | EDN1 | c.207G>T (p.Leu69=) c.204G>T (p.Leu68=) | |
6 | g.12292484G>A | CA362856442 | EDN1 | c.208G>A (p.Asp70Asn) c.205G>A (p.Asp69Asn) | |
6 | g.12292484G>C | CA362856443 | EDN1 | c.208G>C (p.Asp70His) c.205G>C (p.Asp69His) | |
6 | g.12292484G>T | CA362856444 | EDN1 | c.208G>T (p.Asp70Tyr) c.205G>T (p.Asp69Tyr) | |
6 | g.12292485A>C | CA362856445 | EDN1 | c.209A>C (p.Asp70Ala) c.206A>C (p.Asp69Ala) | |
6 | g.12292485A>G | CA362856446 | EDN1 | c.209A>G (p.Asp70Gly) c.206A>G (p.Asp69Gly) | |
6 | g.12292485A>T | CA362856447 | EDN1 | c.209A>T (p.Asp70Val) c.206A>T (p.Asp69Val) | |
6 | g.12292486C>A | CA362856449 | EDN1 | c.210C>A (p.Asp70Glu) c.207C>A (p.Asp69Glu) | |
6 | g.12292486C>G | CA362856448 | EDN1 | c.210C>G (p.Asp70Glu) c.207C>G (p.Asp69Glu) | |
6 | g.12292486C>T | CA448427728 | EDN1 | c.210C>T (p.Asp70=) c.207C>T (p.Asp69=) | gnomAD v4 |
6 | g.12292487A= | CA1610843942 | EDN1 | c.211A= (p.Ile71=) c.208A= (p.Ile70=) | |
6 | g.12292487A>C | CA362856450 | EDN1 | c.211A>C (p.Ile71Leu) c.208A>C (p.Ile70Leu) | |
6 | g.12292487A>G | CA3638647 | EDN1 | c.211A>G (p.Ile71Val) c.208A>G (p.Ile70Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292487A>T | CA362856451 | EDN1 | c.211A>T (p.Ile71Phe) c.208A>T (p.Ile70Phe) | |
6 | g.12292488T>A | CA362856452 | EDN1 | c.212T>A (p.Ile71Asn) c.209T>A (p.Ile70Asn) | |
6 | g.12292488T>C | CA362856453 | EDN1 | c.212T>C (p.Ile71Thr) c.209T>C (p.Ile70Thr) | |
6 | g.12292488T>G | CA362856454 | EDN1 | c.212T>G (p.Ile71Ser) c.209T>G (p.Ile70Ser) | |
6 | g.12292489C>A | CA448427729 | EDN1 | c.213C>A (p.Ile71=) c.210C>A (p.Ile70=) | dbSNP |
6 | g.12292489C= | CA1610843944 | EDN1 | c.213C= (p.Ile71=) c.210C= (p.Ile70=) | |
6 | g.12292489C>G | CA362856455 | EDN1 | c.213C>G (p.Ile71Met) c.210C>G (p.Ile70Met) | |
6 | g.12292489C>T | CA448427730 | EDN1 | c.213C>T (p.Ile71=) c.210C>T (p.Ile70=) | |
6 | g.12292490A>C | CA362856456 | EDN1 | c.214A>C (p.Ile72Leu) c.211A>C (p.Ile71Leu) | |
6 | g.12292490A>G | CA362856457 | EDN1 | c.214A>G (p.Ile72Val) c.211A>G (p.Ile71Val) | |
6 | g.12292490A>T | CA362856458 | EDN1 | c.214A>T (p.Ile72Phe) c.211A>T (p.Ile71Phe) | |
6 | g.12292491T>A | CA362856459 | EDN1 | c.215T>A (p.Ile72Asn) c.212T>A (p.Ile71Asn) | |
6 | g.12292491T>C | CA362856460 | EDN1 | c.215T>C (p.Ile72Thr) c.212T>C (p.Ile71Thr) | |
6 | g.12292491T>G | CA362856461 | EDN1 | c.215T>G (p.Ile72Ser) c.212T>G (p.Ile71Ser) | |
6 | g.12292492T>A | CA448427731 | EDN1 | c.216T>A (p.Ile72=) c.213T>A (p.Ile71=) | |
6 | g.12292492T>C | CA448427732 | EDN1 | c.216T>C (p.Ile72=) c.213T>C (p.Ile71=) | |
6 | g.12292492T>G | CA362856462 | EDN1 | c.216T>G (p.Ile72Met) c.213T>G (p.Ile71Met) | gnomAD v4 |
6 | g.12292493T>A | CA362856465 | EDN1 | c.217T>A (p.Trp73Arg) c.214T>A (p.Trp72Arg) | |
6 | g.12292493T>C | CA362856463 | EDN1 | c.217T>C (p.Trp73Arg) c.214T>C (p.Trp72Arg) | |
6 | g.12292493T>G | CA362856464 | EDN1 | c.217T>G (p.Trp73Gly) c.214T>G (p.Trp72Gly) | |
6 | g.12292494G>A | CA362856466 | EDN1 | c.218G>A (p.Trp73Ter) c.215G>A (p.Trp72Ter) | |
6 | g.12292494G>C | CA362856467 | EDN1 | c.218G>C (p.Trp73Ser) c.215G>C (p.Trp72Ser) | |
6 | g.12292494G>T | CA362856468 | EDN1 | c.218G>T (p.Trp73Leu) c.215G>T (p.Trp72Leu) | |
6 | g.12292495G>A | CA362856471 | EDN1 | c.219G>A (p.Trp73Ter) c.216G>A (p.Trp72Ter) | |
6 | g.12292495G>C | CA362856470 | EDN1 | c.219G>C (p.Trp73Cys) c.216G>C (p.Trp72Cys) | |
6 | g.12292495G>T | CA362856469 | EDN1 | c.219G>T (p.Trp73Cys) c.216G>T (p.Trp72Cys) | |
6 | g.12292496G>A | CA362856472 | EDN1 | c.220G>A (p.Val74Ile) c.217G>A (p.Val73Ile) | |
6 | g.12292496G>C | CA362856473 | EDN1 | c.220G>C (p.Val74Leu) c.217G>C (p.Val73Leu) | |
6 | g.12292496G>T | CA362856474 | EDN1 | c.220G>T (p.Val74Phe) c.217G>T (p.Val73Phe) | |
6 | g.12292497T>A | CA362856475 | EDN1 | c.221T>A (p.Val74Asp) c.218T>A (p.Val73Asp) | |
6 | g.12292497T>C | CA362856476 | EDN1 | c.221T>C (p.Val74Ala) c.218T>C (p.Val73Ala) | |
6 | g.12292497T>G | CA362856477 | EDN1 | c.221T>G (p.Val74Gly) c.218T>G (p.Val73Gly) | |
6 | g.12292498C>A | CA448427734 | EDN1 | c.222C>A (p.Val74=) c.219C>A (p.Val73=) | |
6 | g.12292498C>G | CA448427735 | EDN1 | c.222C>G (p.Val74=) c.219C>G (p.Val73=) | |
6 | g.12292498C>T | CA448427736 | EDN1 | c.222C>T (p.Val74=) c.219C>T (p.Val73=) | gnomAD v4 |
6 | g.12292499A= | CA1610843949 | EDN1 | c.223A= (p.Asn75=) c.220A= (p.Asn74=) | |
6 | g.12292499A>C | CA362856478 | EDN1 | c.223A>C (p.Asn75His) c.220A>C (p.Asn74His) | |
6 | g.12292499A>G | CA362856479 | EDN1 | c.223A>G (p.Asn75Asp) c.220A>G (p.Asn74Asp) | |
6 | g.12292499A>T | CA134217373 | EDN1 | c.223A>T (p.Asn75Tyr) c.220A>T (p.Asn74Tyr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12292500A= | CA1610843951 | EDN1 | c.224A= (p.Asn75=) c.221A= (p.Asn74=) | |
6 | g.12292500A>C | CA362856480 | EDN1 | c.224A>C (p.Asn75Thr) c.221A>C (p.Asn74Thr) | gnomAD v4 |
6 | g.12292500A>G | CA3638648 | EDN1 | c.224A>G (p.Asn75Ser) c.221A>G (p.Asn74Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292500A>T | CA362856481 | EDN1 | c.224A>T (p.Asn75Ile) c.221A>T (p.Asn74Ile) | |
6 | g.12292501C>A | CA362856482 | EDN1 | c.225C>A (p.Asn75Lys) c.222C>A (p.Asn74Lys) | |
6 | g.12292501C= | CA1610843954 | EDN1 | c.225C= (p.Asn75=) c.222C= (p.Asn74=) | |
6 | g.12292501C>G | CA3638649 | EDN1 | c.225C>G (p.Asn75Lys) c.222C>G (p.Asn74Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292501C>T | CA448427737 | EDN1 | c.225C>T (p.Asn75=) c.222C>T (p.Asn74=) | |
6 | g.12292502A>C | CA362856483 | EDN1 | c.226A>C (p.Thr76Pro) c.223A>C (p.Thr75Pro) | |
6 | g.12292502A>G | CA362856484 | EDN1 | c.226A>G (p.Thr76Ala) c.223A>G (p.Thr75Ala) | |
6 | g.12292502A>T | CA362856485 | EDN1 | c.226A>T (p.Thr76Ser) c.223A>T (p.Thr75Ser) | |
6 | g.12292503C>A | CA3638650 | EDN1 | c.227C>A (p.Thr76Asn) c.224C>A (p.Thr75Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292503C= | CA1610843958 | EDN1 | c.227C= (p.Thr76=) c.224C= (p.Thr75=) | |
6 | g.12292503C>G | CA362856486 | EDN1 | c.227C>G (p.Thr76Ser) c.224C>G (p.Thr75Ser) | |
6 | g.12292503C>T | CA362856487 | EDN1 | c.227C>T (p.Thr76Ile) c.224C>T (p.Thr75Ile) | |
6 | g.12292504T>A | CA448427738 | EDN1 | c.228T>A (p.Thr76=) c.225T>A (p.Thr75=) | |
6 | g.12292504T>C | CA448427739 | EDN1 | c.228T>C (p.Thr76=) c.225T>C (p.Thr75=) | |
6 | g.12292504T>G | CA448427740 | EDN1 | c.228T>G (p.Thr76=) c.225T>G (p.Thr75=) | |
6 | g.12292505C>A | CA362856490 | EDN1 | c.229C>A (p.Pro77Thr) c.226C>A (p.Pro76Thr) | |
6 | g.12292505C>G | CA362856489 | EDN1 | c.229C>G (p.Pro77Ala) c.226C>G (p.Pro76Ala) | |
6 | g.12292505C>T | CA362856488 | EDN1 | c.229C>T (p.Pro77Ser) c.226C>T (p.Pro76Ser) | |
6 | g.12292506C>A | CA150780 | EDN1 | c.230C>A (p.Pro77His) c.227C>A (p.Pro76His) | ClinVar dbSNP |
6 | g.12292506C= | CA1610843964 | EDN1 | c.230C= (p.Pro77=) c.227C= (p.Pro76=) | |
6 | g.12292506C>G | CA362856492 | EDN1 | c.230C>G (p.Pro77Arg) c.227C>G (p.Pro76Arg) | |
6 | g.12292506C>T | CA362856491 | EDN1 | c.230C>T (p.Pro77Leu) c.227C>T (p.Pro76Leu) | |
6 | g.12292507C>A | CA448427743 | EDN1 | c.231C>A (p.Pro77=) c.228C>A (p.Pro76=) | COSMIC |
6 | g.12292507C= | CA1610843972 | EDN1 | c.231C= (p.Pro77=) c.228C= (p.Pro76=) | |
6 | g.12292507C>G | CA448427742 | EDN1 | c.231C>G (p.Pro77=) c.228C>G (p.Pro76=) | |
6 | g.12292507C>T | CA3638651 | EDN1 | c.231C>T (p.Pro77=) c.228C>T (p.Pro76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292508del | CA2770023741 | EDN1 | c.232del (p.Glu78SerfsTer?) c.229del (p.Glu77SerfsTer?) | |
6 | g.12292508G>A | CA362856495 | EDN1 | c.232G>A (p.Glu78Lys) c.229G>A (p.Glu77Lys) | gnomAD v4 |
6 | g.12292508G>C | CA362856493 | EDN1 | c.232G>C (p.Glu78Gln) c.229G>C (p.Glu77Gln) | dbSNP gnomAD v2 |
6 | g.12292508G= | CA1610843974 | EDN1 | c.232G= (p.Glu78=) c.229G= (p.Glu77=) | |
6 | g.12292508G>T | CA362856494 | EDN1 | c.232G>T (p.Glu78Ter) c.229G>T (p.Glu77Ter) | |
6 | g.12292508_12292511del | CA2677349989 | EDN1 | c.232_233+2del c.229_230+2del | gnomAD v4 |
6 | g.12292509A= | CA1610843975 | EDN1 | c.233A= (p.Glu78=) c.230A= (p.Glu77=) | |
6 | g.12292509A>C | CA362856496 | EDN1 | c.233A>C (p.Glu78Ala) c.230A>C (p.Glu77Ala) | |
6 | g.12292509A>G | CA3638652 | EDN1 | c.233A>G (p.Glu78Gly) c.230A>G (p.Glu77Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292509A>T | CA362856497 | EDN1 | c.233A>T (p.Glu78Val) c.230A>T (p.Glu77Val) | |
6 | g.12292510G>A | CA362856498 | EDN1 | c.233+1G>A (n.233+1G>A) c.230+1G>A (n.230+1G>A) | |
6 | g.12292510G>C | CA362856499 | EDN1 | c.233+1G>C (n.233+1G>C) c.230+1G>C (n.230+1G>C) | |
6 | g.12292510G>T | CA362856500 | EDN1 | c.233+1G>T (n.233+1G>T) c.230+1G>T (n.230+1G>T) | |
6 | g.12292511T>A | CA362856501 | EDN1 | c.233+2T>A (n.233+2T>A) c.230+2T>A (n.230+2T>A) | |
6 | g.12292511T>C | CA362856502 | EDN1 | c.233+2T>C (n.233+2T>C) c.230+2T>C (n.230+2T>C) | |
6 | g.12292511T>G | CA362856503 | EDN1 | c.233+2T>G (n.233+2T>G) c.230+2T>G (n.230+2T>G) | |
6 | g.12292514G>A | CA565829451 | EDN1 | c.233+5G>A (n.233+5G>A) c.230+5G>A (n.230+5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292514G= | CA1610843976 | EDN1 | c.233+5G= (n.233+5G=) c.230+5G= (n.230+5G=) | |
6 | g.12292518C= | CA1610843978 | EDN1 | c.233+9C= (n.233+9C=) c.230+9C= (n.230+9C=) | |
6 | g.12292518C>G | CA3638653 | EDN1 | c.233+9C>G (n.233+9C>G) c.230+9C>G (n.230+9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292519T>C | CA1610843979 | EDN1 | c.233+10T>C (n.233+10T>C) c.230+10T>C (n.230+10T>C) | dbSNP gnomAD v4 |
6 | g.12292519T= | CA1610843980 | EDN1 | c.233+10T= (n.233+10T=) c.230+10T= (n.230+10T=) | |
6 | g.12292520A= | CA1610843981 | EDN1 | c.233+11A= (n.233+11A=) c.230+11A= (n.230+11A=) | |
6 | g.12292520A>G | CA1610843982 | EDN1 | c.233+11A>G (n.233+11A>G) c.230+11A>G (n.230+11A>G) | dbSNP |
6 | g.12292521G>C | CA3638654 | EDN1 | c.233+12G>C (n.233+12G>C) c.230+12G>C (n.230+12G>C) | dbSNP ExAC gnomAD v2 |
6 | g.12292521G= | CA1610843983 | EDN1 | c.233+12G= (n.233+12G=) c.230+12G= (n.230+12G=) | |
6 | g.12292522A>G | CA2677349990 | EDN1 | c.233+13A>G (n.233+13A>G) c.230+13A>G (n.230+13A>G) | gnomAD v4 |
6 | g.12292523G>A | CA818253249 | EDN1 | c.233+14G>A (n.233+14G>A) c.230+14G>A (n.230+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12292523G>C | CA565829452 | EDN1 | c.233+14G>C (n.233+14G>C) c.230+14G>C (n.230+14G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292523G= | CA1610843986 | EDN1 | c.233+14G= (n.233+14G=) c.230+14G= (n.230+14G=) | |
6 | g.12292524G>A | CA1610843988 | EDN1 | c.233+15G>A (n.233+15G>A) c.230+15G>A (n.230+15G>A) | dbSNP |
6 | g.12292524G= | CA1610843987 | EDN1 | c.233+15G= (n.233+15G=) c.230+15G= (n.230+15G=) | |
6 | g.12292524G>T | CA2677349991 | EDN1 | c.233+15G>T (n.233+15G>T) c.230+15G>T (n.230+15G>T) | gnomAD v4 |
6 | g.12292525G>A | CA2677349992 | EDN1 | c.233+16G>A (n.233+16G>A) c.230+16G>A (n.230+16G>A) | gnomAD v4 |
6 | g.12292525G= | CA1610843990 | EDN1 | c.233+16G= (n.233+16G=) c.230+16G= (n.230+16G=) | |
6 | g.12292525G>T | CA818253255 | EDN1 | c.233+16G>T (n.233+16G>T) c.230+16G>T (n.230+16G>T) | dbSNP gnomAD v4 |
6 | g.12292526C= | CA1610844009 | EDN1 | c.233+17C= (n.233+17C=) c.230+17C= (n.230+17C=) | |
6 | g.12292526C>T | CA1610844010 | EDN1 | c.233+17C>T (n.233+17C>T) c.230+17C>T (n.230+17C>T) | dbSNP |
6 | g.12292528T>A | CA2711046492 | EDN1 | c.233+19T>A (n.233+19T>A) c.230+19T>A (n.230+19T>A) | dbSNP |
6 | g.12292528T>C | CA2578531288 | EDN1 | c.233+19T>C (n.233+19T>C) c.230+19T>C (n.230+19T>C) | gnomAD v4 |
6 | g.12292528T>G | CA2711046489 | EDN1 | c.233+19T>G (n.233+19T>G) c.230+19T>G (n.230+19T>G) | dbSNP |
6 | g.12292529T>C | CA3638655 | EDN1 | c.233+20T>C (n.233+20T>C) c.230+20T>C (n.230+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292529T= | CA1610844012 | EDN1 | c.233+20T= (n.233+20T=) c.230+20T= (n.230+20T=) | |
6 | g.12292530G>A | CA2578531289 | EDN1 | c.233+21G>A (n.233+21G>A) c.230+21G>A (n.230+21G>A) | |
6 | g.12292531T>C | CA3638656 | EDN1 | c.233+22T>C (n.233+22T>C) c.230+22T>C (n.230+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.12292531T= | CA1610844015 | EDN1 | c.233+22T= (n.233+22T=) c.230+22T= (n.230+22T=) | |
6 | g.12292534C>A | CA3638657 | EDN1 | c.233+25C>A (n.233+25C>A) c.230+25C>A (n.230+25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292534C= | CA1610844017 | EDN1 | c.233+25C= (n.233+25C=) c.230+25C= (n.230+25C=) | |
6 | g.12292534C>T | CA565829453 | EDN1 | c.233+25C>T (n.233+25C>T) c.230+25C>T (n.230+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12292536C>G | CA2578531290 | EDN1 | c.233+27C>G (n.233+27C>G) c.230+27C>G (n.230+27C>G) | |
6 | g.12292538A= | CA1610844176 | EDN1 | c.233+29A= (n.233+29A=) c.230+29A= (n.230+29A=) | |
6 | g.12292538A>C | CA565829454 | EDN1 | c.233+29A>C (n.233+29A>C) c.230+29A>C (n.230+29A>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.12292539G>A | CA2578531291 | EDN1 | c.233+30G>A (n.233+30G>A) c.230+30G>A (n.230+30G>A) | |
6 | g.12292539G>C | CA134217382 | EDN1 | c.233+30G>C (n.233+30G>C) c.230+30G>C (n.230+30G>C) | dbSNP |
6 | g.12292539G= | CA1610844180 | EDN1 | c.233+30G= (n.233+30G=) c.230+30G= (n.230+30G=) | |
6 | g.12292539G>T | CA3638658 | EDN1 | c.233+30G>T (n.233+30G>T) c.230+30G>T (n.230+30G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292540T>C | CA818253278 | EDN1 | c.233+31T>C (n.233+31T>C) c.230+31T>C (n.230+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.12292540T= | CA1610844185 | EDN1 | c.233+31T= (n.233+31T=) c.230+31T= (n.230+31T=) | |
6 | g.12292541C>A | CA2677349993 | EDN1 | c.233+32C>A (n.233+32C>A) c.230+32C>A (n.230+32C>A) | gnomAD v4 |
6 | g.12292542A= | CA1610844186 | EDN1 | c.233+33A= (n.233+33A=) c.230+33A= (n.230+33A=) | |
6 | g.12292542A>T | CA134217384 | EDN1 | c.233+33A>T (n.233+33A>T) c.230+33A>T (n.230+33A>T) | dbSNP gnomAD v4 |
6 | g.12292543T>C | CA2578531292 | EDN1 | c.233+34T>C (n.233+34T>C) c.230+34T>C (n.230+34T>C) | gnomAD v4 |
6 | g.12292545C>T | CA2677349994 | EDN1 | c.233+36C>T (n.233+36C>T) c.230+36C>T (n.230+36C>T) | gnomAD v4 |
6 | g.12292546del | CA2677349995 | EDN1 | c.233+37del (n.233+37del) c.230+37del (n.230+37del) | gnomAD v4 |
6 | g.12292546A>G | CA2677349996 | EDN1 | c.233+37A>G (n.233+37A>G) c.230+37A>G (n.230+37A>G) | gnomAD v4 |
6 | g.12292547T>A | CA3638659 | EDN1 | c.233+38T>A (n.233+38T>A) c.230+38T>A (n.230+38T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.12292547T= | CA1610844187 | EDN1 | c.233+38T= (n.233+38T=) c.230+38T= (n.230+38T=) |