| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60841617_60841621del | CA2687399510 | CHD7 | c.4534-27_4534-23del (n.4534-27_4534-23del) c.1717-20612_1717-20608del (n.1717-20612_1717-20608del) c.2521-27_2521-23del (n.2521-27_2521-23del) c.2071-27_2071-23del (n.2071-27_2071-23del) c.1279-27_1279-23del (n.1279-27_1279-23del) | gnomAD v4 |
| 8 | g.60841621A= | CA1788122309 | CHD7 | c.4534-23A= (n.4534-23A=) c.1717-20608A= (n.1717-20608A=) c.2521-23A= (n.2521-23A=) c.2071-23A= (n.2071-23A=) c.1279-23A= (n.1279-23A=) | |
| 8 | g.60841621A>G | CA4760145 | CHD7 | c.4534-23A>G (n.4534-23A>G) c.1717-20608A>G (n.1717-20608A>G) c.2521-23A>G (n.2521-23A>G) c.2071-23A>G (n.2071-23A>G) c.1279-23A>G (n.1279-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841622T>A | CA1788122312 | CHD7 | c.4534-22T>A (n.4534-22T>A) c.1717-20607T>A (n.1717-20607T>A) c.2521-22T>A (n.2521-22T>A) c.2071-22T>A (n.2071-22T>A) c.1279-22T>A (n.1279-22T>A) | dbSNP |
| 8 | g.60841622T= | CA1788122311 | CHD7 | c.4534-22T= (n.4534-22T=) c.1717-20607T= (n.1717-20607T=) c.2521-22T= (n.2521-22T=) c.2071-22T= (n.2071-22T=) c.1279-22T= (n.1279-22T=) | |
| 8 | g.60841624C>A | CA2573143256 | CHD7 | c.4534-20C>A (n.4534-20C>A) c.1717-20605C>A (n.1717-20605C>A) c.2521-20C>A (n.2521-20C>A) c.2071-20C>A (n.2071-20C>A) c.1279-20C>A (n.1279-20C>A) | ClinVar dbSNP |
| 8 | g.60841624C= | CA1788122319 | CHD7 | c.4534-20C= (n.4534-20C=) c.1717-20605C= (n.1717-20605C=) c.2521-20C= (n.2521-20C=) c.2071-20C= (n.2071-20C=) c.1279-20C= (n.1279-20C=) | |
| 8 | g.60841624C>T | CA233722 | CHD7 | c.4534-20C>T (n.4534-20C>T) c.1717-20605C>T (n.1717-20605C>T) c.2521-20C>T (n.2521-20C>T) c.2071-20C>T (n.2071-20C>T) c.1279-20C>T (n.1279-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60841625G>A | CA582403546 | CHD7 | c.4534-19G>A (n.4534-19G>A) c.1717-20604G>A (n.1717-20604G>A) c.2521-19G>A (n.2521-19G>A) c.2071-19G>A (n.2071-19G>A) c.1279-19G>A (n.1279-19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841625G= | CA1788122327 | CHD7 | c.4534-19G= (n.4534-19G=) c.1717-20604G= (n.1717-20604G=) c.2521-19G= (n.2521-19G=) c.2071-19G= (n.2071-19G=) c.1279-19G= (n.1279-19G=) | |
| 8 | g.60841629C= | CA1788122334 | CHD7 | c.4534-15C= (n.4534-15C=) c.1717-20600C= (n.1717-20600C=) c.2521-15C= (n.2521-15C=) c.2071-15C= (n.2071-15C=) c.1279-15C= (n.1279-15C=) | |
| 8 | g.60841635dup | CA582403547 | CHD7 | c.4534-9dup (n.4534-9dup) c.1717-20594dup (n.1717-20594dup) c.2521-9dup (n.2521-9dup) c.2071-9dup (n.2071-9dup) c.1279-9dup (n.1279-9dup) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841635del | CA2687399512 | CHD7 | c.4534-9del (n.4534-9del) c.1717-20594del (n.1717-20594del) c.2521-9del (n.2521-9del) c.2071-9del (n.2071-9del) c.1279-9del (n.1279-9del) | gnomAD v4 |
| 8 | g.60841631T>G | CA201802 | CHD7 | c.4534-13T>G (n.4534-13T>G) c.1717-20598T>G (n.1717-20598T>G) c.2521-13T>G (n.2521-13T>G) c.2071-13T>G (n.2071-13T>G) c.1279-13T>G (n.1279-13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841631T= | CA1788122345 | CHD7 | c.4534-13T= (n.4534-13T=) c.1717-20598T= (n.1717-20598T=) c.2521-13T= (n.2521-13T=) c.2071-13T= (n.2071-13T=) c.1279-13T= (n.1279-13T=) | |
| 8 | g.60841632T>C | CA2739268815 | CHD7 | c.4534-12T>C (n.4534-12T>C) c.1717-20597T>C (n.1717-20597T>C) c.2521-12T>C (n.2521-12T>C) c.2071-12T>C (n.2071-12T>C) c.1279-12T>C (n.1279-12T>C) | ClinVar |
| 8 | g.60841633T>C | CA2573143257 | CHD7 | c.4534-11T>C (n.4534-11T>C) c.1717-20596T>C (n.1717-20596T>C) c.2521-11T>C (n.2521-11T>C) c.2071-11T>C (n.2071-11T>C) c.1279-11T>C (n.1279-11T>C) | ClinVar dbSNP |
| 8 | g.60841636C>A | CA2687399513 | CHD7 | c.4534-8C>A (n.4534-8C>A) c.1717-20593C>A (n.1717-20593C>A) c.2521-8C>A (n.2521-8C>A) c.2071-8C>A (n.2071-8C>A) c.1279-8C>A (n.1279-8C>A) | gnomAD v4 |
| 8 | g.60841637T>G | CA177349888 | CHD7 | c.4534-7T>G (n.4534-7T>G) c.1717-20592T>G (n.1717-20592T>G) c.2521-7T>G (n.2521-7T>G) c.2071-7T>G (n.2071-7T>G) c.1279-7T>G (n.1279-7T>G) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60841637T= | CA1788122352 | CHD7 | c.4534-7T= (n.4534-7T=) c.1717-20592T= (n.1717-20592T=) c.2521-7T= (n.2521-7T=) c.2071-7T= (n.2071-7T=) c.1279-7T= (n.1279-7T=) | |
| 8 | g.60841638C>A | CA2687399514 | CHD7 | c.4534-6C>A (n.4534-6C>A) c.1717-20591C>A (n.1717-20591C>A) c.2521-6C>A (n.2521-6C>A) c.2071-6C>A (n.2071-6C>A) c.1279-6C>A (n.1279-6C>A) | gnomAD v4 |
| 8 | g.60841638C= | CA1788122368 | CHD7 | c.4534-6C= (n.4534-6C=) c.1717-20591C= (n.1717-20591C=) c.2521-6C= (n.2521-6C=) c.2071-6C= (n.2071-6C=) c.1279-6C= (n.1279-6C=) | |
| 8 | g.60841638C>G | CA2687399515 | CHD7 | c.4534-6C>G (n.4534-6C>G) c.1717-20591C>G (n.1717-20591C>G) c.2521-6C>G (n.2521-6C>G) c.2071-6C>G (n.2071-6C>G) c.1279-6C>G (n.1279-6C>G) | gnomAD v4 |
| 8 | g.60841638C>T | CA4760146 | CHD7 | c.4534-6C>T (n.4534-6C>T) c.1717-20591C>T (n.1717-20591C>T) c.2521-6C>T (n.2521-6C>T) c.2071-6C>T (n.2071-6C>T) c.1279-6C>T (n.1279-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841639T>C | CA582403548 | CHD7 | c.4534-5T>C (n.4534-5T>C) c.1717-20590T>C (n.1717-20590T>C) c.2521-5T>C (n.2521-5T>C) c.2071-5T>C (n.2071-5T>C) c.1279-5T>C (n.1279-5T>C) | dbSNP gnomAD v2 |
| 8 | g.60841639T= | CA1788122371 | CHD7 | c.4534-5T= (n.4534-5T=) c.1717-20590T= (n.1717-20590T=) c.2521-5T= (n.2521-5T=) c.2071-5T= (n.2071-5T=) c.1279-5T= (n.1279-5T=) | |
| 8 | g.60841640T>G | CA4760147 | CHD7 | c.4534-4T>G (n.4534-4T>G) c.1717-20589T>G (n.1717-20589T>G) c.2521-4T>G (n.2521-4T>G) c.2071-4T>G (n.2071-4T>G) c.1279-4T>G (n.1279-4T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841640T= | CA1788122378 | CHD7 | c.4534-4T= (n.4534-4T=) c.1717-20589T= (n.1717-20589T=) c.2521-4T= (n.2521-4T=) c.2071-4T= (n.2071-4T=) c.1279-4T= (n.1279-4T=) | |
| 8 | g.60841641T>A | CA2687399516 | CHD7 | c.4534-3T>A (n.4534-3T>A) c.1717-20588T>A (n.1717-20588T>A) c.2521-3T>A (n.2521-3T>A) c.2071-3T>A (n.2071-3T>A) c.1279-3T>A (n.1279-3T>A) | gnomAD v4 |
| 8 | g.60841642A>C | CA371318455 | CHD7 | c.4534-2A>C (n.4534-2A>C) c.1717-20587A>C (n.1717-20587A>C) c.2521-2A>C (n.2521-2A>C) c.2071-2A>C (n.2071-2A>C) c.1279-2A>C (n.1279-2A>C) | |
| 8 | g.60841642A>G | CA371318457 | CHD7 | c.4534-2A>G (n.4534-2A>G) c.1717-20587A>G (n.1717-20587A>G) c.2521-2A>G (n.2521-2A>G) c.2071-2A>G (n.2071-2A>G) c.1279-2A>G (n.1279-2A>G) | |
| 8 | g.60841642A>T | CA371318458 | CHD7 | c.4534-2A>T (n.4534-2A>T) c.1717-20587A>T (n.1717-20587A>T) c.2521-2A>T (n.2521-2A>T) c.2071-2A>T (n.2071-2A>T) c.1279-2A>T (n.1279-2A>T) | |
| 8 | g.60841643G>A | CA371318460 | CHD7 | c.4534-1G>A (n.4534-1G>A) c.1717-20586G>A (n.1717-20586G>A) c.2521-1G>A (n.2521-1G>A) c.2071-1G>A (n.2071-1G>A) c.1279-1G>A (n.1279-1G>A) | |
| 8 | g.60841643G>C | CA371318461 | CHD7 | c.4534-1G>C (n.4534-1G>C) c.1717-20586G>C (n.1717-20586G>C) c.2521-1G>C (n.2521-1G>C) c.2071-1G>C (n.2071-1G>C) c.1279-1G>C (n.1279-1G>C) | |
| 8 | g.60841643G>T | CA371318463 | CHD7 | c.4534-1G>T (n.4534-1G>T) c.1717-20586G>T (n.1717-20586G>T) c.2521-1G>T (n.2521-1G>T) c.2071-1G>T (n.2071-1G>T) c.1279-1G>T (n.1279-1G>T) | |
| 8 | g.60841644G>A | CA371318467 | CHD7 | c.4534G>A (p.Ala1512Thr) c.1717-20585G>A (n.1717-20585G>A) c.2521G>A (p.Ala841Thr) c.2071G>A (p.Ala691Thr) c.1279G>A (p.Ala427Thr) | |
| 8 | g.60841644G>C | CA371318466 | CHD7 | c.4534G>C (p.Ala1512Pro) c.1717-20585G>C (n.1717-20585G>C) c.2521G>C (p.Ala841Pro) c.2071G>C (p.Ala691Pro) c.1279G>C (p.Ala427Pro) | |
| 8 | g.60841644G>T | CA371318464 | CHD7 | c.4534G>T (p.Ala1512Ser) c.1717-20585G>T (n.1717-20585G>T) c.2521G>T (p.Ala841Ser) c.2071G>T (p.Ala691Ser) c.1279G>T (p.Ala427Ser) | |
| 8 | g.60841645C>A | CA371318468 | CHD7 | c.4535C>A (p.Ala1512Asp) c.1717-20584C>A (n.1717-20584C>A) c.2522C>A (p.Ala841Asp) c.2072C>A (p.Ala691Asp) c.1280C>A (p.Ala427Asp) | gnomAD v4 |
| 8 | g.60841645C>G | CA371318469 | CHD7 | c.4535C>G (p.Ala1512Gly) c.1717-20584C>G (n.1717-20584C>G) c.2522C>G (p.Ala841Gly) c.2072C>G (p.Ala691Gly) c.1280C>G (p.Ala427Gly) | |
| 8 | g.60841645C>T | CA371318471 | CHD7 | c.4535C>T (p.Ala1512Val) c.1717-20584C>T (n.1717-20584C>T) c.2522C>T (p.Ala841Val) c.2072C>T (p.Ala691Val) c.1280C>T (p.Ala427Val) | |
| 8 | g.60841646C>A | CA460848011 | CHD7 | c.4536C>A (p.Ala1512=) c.1717-20583C>A (n.1717-20583C>A) c.2523C>A (p.Ala841=) c.2073C>A (p.Ala691=) c.1281C>A (p.Ala427=) | |
| 8 | g.60841646C>G | CA460848012 | CHD7 | c.4536C>G (p.Ala1512=) c.1717-20583C>G (n.1717-20583C>G) c.2523C>G (p.Ala841=) c.2073C>G (p.Ala691=) c.1281C>G (p.Ala427=) | |
| 8 | g.60841646C>T | CA460848013 | CHD7 | c.4536C>T (p.Ala1512=) c.1717-20583C>T (n.1717-20583C>T) c.2523C>T (p.Ala841=) c.2073C>T (p.Ala691=) c.1281C>T (p.Ala427=) | gnomAD v4 |
| 8 | g.60841647A>C | CA371318472 | CHD7 | c.4537A>C (p.Ser1513Arg) c.1717-20582A>C (n.1717-20582A>C) c.2524A>C (p.Ser842Arg) c.2074A>C (p.Ser692Arg) c.1282A>C (p.Ser428Arg) | |
| 8 | g.60841647A>G | CA371318474 | CHD7 | c.4537A>G (p.Ser1513Gly) c.1717-20582A>G (n.1717-20582A>G) c.2524A>G (p.Ser842Gly) c.2074A>G (p.Ser692Gly) c.1282A>G (p.Ser428Gly) | gnomAD v4 |
| 8 | g.60841647A>T | CA371318475 | CHD7 | c.4537A>T (p.Ser1513Cys) c.1717-20582A>T (n.1717-20582A>T) c.2524A>T (p.Ser842Cys) c.2074A>T (p.Ser692Cys) c.1282A>T (p.Ser428Cys) | |
| 8 | g.60841648G>A | CA371318477 | CHD7 | c.4538G>A (p.Ser1513Asn) c.1717-20581G>A (n.1717-20581G>A) c.2525G>A (p.Ser842Asn) c.2075G>A (p.Ser692Asn) c.1283G>A (p.Ser428Asn) | |
| 8 | g.60841648G>C | CA371318479 | CHD7 | c.4538G>C (p.Ser1513Thr) c.1717-20581G>C (n.1717-20581G>C) c.2525G>C (p.Ser842Thr) c.2075G>C (p.Ser692Thr) c.1283G>C (p.Ser428Thr) | |
| 8 | g.60841648G>T | CA371318480 | CHD7 | c.4538G>T (p.Ser1513Ile) c.1717-20581G>T (n.1717-20581G>T) c.2525G>T (p.Ser842Ile) c.2075G>T (p.Ser692Ile) c.1283G>T (p.Ser428Ile) | |
| 8 | g.60841649T>A | CA371318481 | CHD7 | c.4539T>A (p.Ser1513Arg) c.1717-20580T>A (n.1717-20580T>A) c.2526T>A (p.Ser842Arg) c.2076T>A (p.Ser692Arg) c.1284T>A (p.Ser428Arg) | |
| 8 | g.60841649T>C | CA460848014 | CHD7 | c.4539T>C (p.Ser1513=) c.1717-20580T>C (n.1717-20580T>C) c.2526T>C (p.Ser842=) c.2076T>C (p.Ser692=) c.1284T>C (p.Ser428=) | |
| 8 | g.60841649T>G | CA371318483 | CHD7 | c.4539T>G (p.Ser1513Arg) c.1717-20580T>G (n.1717-20580T>G) c.2526T>G (p.Ser842Arg) c.2076T>G (p.Ser692Arg) c.1284T>G (p.Ser428Arg) | |
| 8 | g.60841652dup | CA2739290082 | CHD7 | c.4542dup (p.Val1515CysfsTer6) c.1717-20577dup (n.1717-20577dup) c.2529dup (p.Val844CysfsTer6) c.2079dup (p.Val694CysfsTer6) c.1287dup (p.Val430CysfsTer6) | |
| 8 | g.60841652del | CA2573143258 | CHD7 | c.4542del (p.Phe1514LeufsTer?) c.1717-20577del (n.1717-20577del) c.2529del (p.Phe843LeufsTer?) c.2079del (p.Phe693LeufsTer?) c.1287del (p.Phe429LeufsTer?) | ClinVar dbSNP |
| 8 | g.60841650T>A | CA371318484 | CHD7 | c.4540T>A (p.Phe1514Ile) c.1717-20579T>A (n.1717-20579T>A) c.2527T>A (p.Phe843Ile) c.2077T>A (p.Phe693Ile) c.1285T>A (p.Phe429Ile) | |
| 8 | g.60841650T>C | CA371318486 | CHD7 | c.4540T>C (p.Phe1514Leu) c.1717-20579T>C (n.1717-20579T>C) c.2527T>C (p.Phe843Leu) c.2077T>C (p.Phe693Leu) c.1285T>C (p.Phe429Leu) | |
| 8 | g.60841650T>G | CA371318487 | CHD7 | c.4540T>G (p.Phe1514Val) c.1717-20579T>G (n.1717-20579T>G) c.2527T>G (p.Phe843Val) c.2077T>G (p.Phe693Val) c.1285T>G (p.Phe429Val) | COSMIC |
| 8 | g.60841651T>A | CA371318492 | CHD7 | c.4541T>A (p.Phe1514Tyr) c.1717-20578T>A (n.1717-20578T>A) c.2528T>A (p.Phe843Tyr) c.2078T>A (p.Phe693Tyr) c.1286T>A (p.Phe429Tyr) | |
| 8 | g.60841651T>C | CA371318490 | CHD7 | c.4541T>C (p.Phe1514Ser) c.1717-20578T>C (n.1717-20578T>C) c.2528T>C (p.Phe843Ser) c.2078T>C (p.Phe693Ser) c.1286T>C (p.Phe429Ser) | |
| 8 | g.60841651T>G | CA371318489 | CHD7 | c.4541T>G (p.Phe1514Cys) c.1717-20578T>G (n.1717-20578T>G) c.2528T>G (p.Phe843Cys) c.2078T>G (p.Phe693Cys) c.1286T>G (p.Phe429Cys) | ClinVar dbSNP |
| 8 | g.60841651T= | CA1788122387 | CHD7 | c.4541T= (p.Phe1514=) c.1717-20578T= (n.1717-20578T=) c.2528T= (p.Phe843=) c.2078T= (p.Phe693=) c.1286T= (p.Phe429=) | |
| 8 | g.60841652T>A | CA371318494 | CHD7 | c.4542T>A (p.Phe1514Leu) c.1717-20577T>A (n.1717-20577T>A) c.2529T>A (p.Phe843Leu) c.2079T>A (p.Phe693Leu) c.1287T>A (p.Phe429Leu) | |
| 8 | g.60841652T>C | CA460848015 | CHD7 | c.4542T>C (p.Phe1514=) c.1717-20577T>C (n.1717-20577T>C) c.2529T>C (p.Phe843=) c.2079T>C (p.Phe693=) c.1287T>C (p.Phe429=) | |
| 8 | g.60841652T>G | CA371318496 | CHD7 | c.4542T>G (p.Phe1514Leu) c.1717-20577T>G (n.1717-20577T>G) c.2529T>G (p.Phe843Leu) c.2079T>G (p.Phe693Leu) c.1287T>G (p.Phe429Leu) | |
| 8 | g.60841653G>A | CA371318497 | CHD7 | c.4543G>A (p.Val1515Ile) c.1717-20576G>A (n.1717-20576G>A) c.2530G>A (p.Val844Ile) c.2080G>A (p.Val694Ile) c.1288G>A (p.Val430Ile) | |
| 8 | g.60841653G>C | CA371318498 | CHD7 | c.4543G>C (p.Val1515Leu) c.1717-20576G>C (n.1717-20576G>C) c.2530G>C (p.Val844Leu) c.2080G>C (p.Val694Leu) c.1288G>C (p.Val430Leu) | |
| 8 | g.60841653G>T | CA371318500 | CHD7 | c.4543G>T (p.Val1515Phe) c.1717-20576G>T (n.1717-20576G>T) c.2530G>T (p.Val844Phe) c.2080G>T (p.Val694Phe) c.1288G>T (p.Val430Phe) | |
| 8 | g.60841654T>A | CA371318505 | CHD7 | c.4544T>A (p.Val1515Asp) c.1717-20575T>A (n.1717-20575T>A) c.2531T>A (p.Val844Asp) c.2081T>A (p.Val694Asp) c.1289T>A (p.Val430Asp) | |
| 8 | g.60841654T>C | CA371318503 | CHD7 | c.4544T>C (p.Val1515Ala) c.1717-20575T>C (n.1717-20575T>C) c.2531T>C (p.Val844Ala) c.2081T>C (p.Val694Ala) c.1289T>C (p.Val430Ala) | |
| 8 | g.60841654T>G | CA371318502 | CHD7 | c.4544T>G (p.Val1515Gly) c.1717-20575T>G (n.1717-20575T>G) c.2531T>G (p.Val844Gly) c.2081T>G (p.Val694Gly) c.1289T>G (p.Val430Gly) | |
| 8 | g.60841655T>A | CA460848016 | CHD7 | c.4545T>A (p.Val1515=) c.1717-20574T>A (n.1717-20574T>A) c.2532T>A (p.Val844=) c.2082T>A (p.Val694=) c.1290T>A (p.Val430=) | |
| 8 | g.60841655T>C | CA460848017 | CHD7 | c.4545T>C (p.Val1515=) c.1717-20574T>C (n.1717-20574T>C) c.2532T>C (p.Val844=) c.2082T>C (p.Val694=) c.1290T>C (p.Val430=) | |
| 8 | g.60841655T>G | CA460848018 | CHD7 | c.4545T>G (p.Val1515=) c.1717-20574T>G (n.1717-20574T>G) c.2532T>G (p.Val844=) c.2082T>G (p.Val694=) c.1290T>G (p.Val430=) | |
| 8 | g.60841656G>A | CA371318507 | CHD7 | c.4546G>A (p.Ala1516Thr) c.1717-20573G>A (n.1717-20573G>A) c.2533G>A (p.Ala845Thr) c.2083G>A (p.Ala695Thr) c.1291G>A (p.Ala431Thr) | |
| 8 | g.60841656G>C | CA371318509 | CHD7 | c.4546G>C (p.Ala1516Pro) c.1717-20573G>C (n.1717-20573G>C) c.2533G>C (p.Ala845Pro) c.2083G>C (p.Ala695Pro) c.1291G>C (p.Ala431Pro) | |
| 8 | g.60841656G>T | CA371318510 | CHD7 | c.4546G>T (p.Ala1516Ser) c.1717-20573G>T (n.1717-20573G>T) c.2533G>T (p.Ala845Ser) c.2083G>T (p.Ala695Ser) c.1291G>T (p.Ala431Ser) | |
| 8 | g.60841657C>A | CA371318511 | CHD7 | c.4547C>A (p.Ala1516Glu) c.1717-20572C>A (n.1717-20572C>A) c.2534C>A (p.Ala845Glu) c.2084C>A (p.Ala695Glu) c.1292C>A (p.Ala431Glu) | |
| 8 | g.60841657C>G | CA371318513 | CHD7 | c.4547C>G (p.Ala1516Gly) c.1717-20572C>G (n.1717-20572C>G) c.2534C>G (p.Ala845Gly) c.2084C>G (p.Ala695Gly) c.1292C>G (p.Ala431Gly) | |
| 8 | g.60841657C>T | CA371318515 | CHD7 | c.4547C>T (p.Ala1516Val) c.1717-20572C>T (n.1717-20572C>T) c.2534C>T (p.Ala845Val) c.2084C>T (p.Ala695Val) c.1292C>T (p.Ala431Val) | ClinVar |
| 8 | g.60841659_60841673del | CA2695209723 | CHD7 | c.4549_4563del (p.Ser1517_Thr1521del) c.1717-20570_1717-20556del (n.1717-20570_1717-20556del) c.2536_2550del (p.Ser846_Thr850del) c.2086_2100del (p.Ser696_Thr700del) c.1294_1308del (p.Ser432_Thr436del) | |
| 8 | g.60841658del | CA2695209725 | CHD7 | c.4548del (p.Ser1517LeufsTer29) c.1717-20571del (n.1717-20571del) c.2535del (p.Ser846LeufsTer29) c.2085del (p.Ser696LeufsTer29) c.1293del (p.Ser432LeufsTer29) | |
| 8 | g.60841658A= | CA1788122391 | CHD7 | c.4548A= (p.Ala1516=) c.1717-20571A= (n.1717-20571A=) c.2535A= (p.Ala845=) c.2085A= (p.Ala695=) c.1293A= (p.Ala431=) | |
| 8 | g.60841658A>C | CA460848021 | CHD7 | c.4548A>C (p.Ala1516=) c.1717-20571A>C (n.1717-20571A>C) c.2535A>C (p.Ala845=) c.2085A>C (p.Ala695=) c.1293A>C (p.Ala431=) | |
| 8 | g.60841658A>G | CA460848020 | CHD7 | c.4548A>G (p.Ala1516=) c.1717-20571A>G (n.1717-20571A>G) c.2535A>G (p.Ala845=) c.2085A>G (p.Ala695=) c.1293A>G (p.Ala431=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841658A>T | CA460848019 | CHD7 | c.4548A>T (p.Ala1516=) c.1717-20571A>T (n.1717-20571A>T) c.2535A>T (p.Ala845=) c.2085A>T (p.Ala695=) c.1293A>T (p.Ala431=) | |
| 8 | g.60841659T>A | CA371318519 | CHD7 | c.4549T>A (p.Ser1517Thr) c.1717-20570T>A (n.1717-20570T>A) c.2536T>A (p.Ser846Thr) c.2086T>A (p.Ser696Thr) c.1294T>A (p.Ser432Thr) | |
| 8 | g.60841659T>C | CA371318516 | CHD7 | c.4549T>C (p.Ser1517Pro) c.1717-20570T>C (n.1717-20570T>C) c.2536T>C (p.Ser846Pro) c.2086T>C (p.Ser696Pro) c.1294T>C (p.Ser432Pro) | gnomAD v4 |
| 8 | g.60841659T>G | CA371318517 | CHD7 | c.4549T>G (p.Ser1517Ala) c.1717-20570T>G (n.1717-20570T>G) c.2536T>G (p.Ser846Ala) c.2086T>G (p.Ser696Ala) c.1294T>G (p.Ser432Ala) | |
| 8 | g.60841660C>A | CA371318521 | CHD7 | c.4550C>A (p.Ser1517Tyr) c.1717-20569C>A (n.1717-20569C>A) c.2537C>A (p.Ser846Tyr) c.2087C>A (p.Ser696Tyr) c.1295C>A (p.Ser432Tyr) | |
| 8 | g.60841660C= | CA1788122394 | CHD7 | c.4550C= (p.Ser1517=) c.1717-20569C= (n.1717-20569C=) c.2537C= (p.Ser846=) c.2087C= (p.Ser696=) c.1295C= (p.Ser432=) | |
| 8 | g.60841660C>G | CA371318522 | CHD7 | c.4550C>G (p.Ser1517Cys) c.1717-20569C>G (n.1717-20569C>G) c.2537C>G (p.Ser846Cys) c.2087C>G (p.Ser696Cys) c.1295C>G (p.Ser432Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841660C>T | CA371318523 | CHD7 | c.4550C>T (p.Ser1517Phe) c.1717-20569C>T (n.1717-20569C>T) c.2537C>T (p.Ser846Phe) c.2087C>T (p.Ser696Phe) c.1295C>T (p.Ser432Phe) | dbSNP |
| 8 | g.60841661T>A | CA460848024 | CHD7 | c.4551T>A (p.Ser1517=) c.1717-20568T>A (n.1717-20568T>A) c.2538T>A (p.Ser846=) c.2088T>A (p.Ser696=) c.1296T>A (p.Ser432=) | |
| 8 | g.60841661T>C | CA460848023 | CHD7 | c.4551T>C (p.Ser1517=) c.1717-20568T>C (n.1717-20568T>C) c.2538T>C (p.Ser846=) c.2088T>C (p.Ser696=) c.1296T>C (p.Ser432=) | gnomAD v4 |
| 8 | g.60841661T>G | CA460848022 | CHD7 | c.4551T>G (p.Ser1517=) c.1717-20568T>G (n.1717-20568T>G) c.2538T>G (p.Ser846=) c.2088T>G (p.Ser696=) c.1296T>G (p.Ser432=) | |
| 8 | g.60841662G>A | CA371318524 | CHD7 | c.4552G>A (p.Gly1518Arg) c.1717-20567G>A (n.1717-20567G>A) c.2539G>A (p.Gly847Arg) c.2089G>A (p.Gly697Arg) c.1297G>A (p.Gly433Arg) | |
| 8 | g.60841662G>C | CA371318525 | CHD7 | c.4552G>C (p.Gly1518Arg) c.1717-20567G>C (n.1717-20567G>C) c.2539G>C (p.Gly847Arg) c.2089G>C (p.Gly697Arg) c.1297G>C (p.Gly433Arg) | |
| 8 | g.60841662G>T | CA371318526 | CHD7 | c.4552G>T (p.Gly1518Ter) c.1717-20567G>T (n.1717-20567G>T) c.2539G>T (p.Gly847Ter) c.2089G>T (p.Gly697Ter) c.1297G>T (p.Gly433Ter) | |
| 8 | g.60841663G>A | CA371318527 | CHD7 | c.4553G>A (p.Gly1518Glu) c.1717-20566G>A (n.1717-20566G>A) c.2540G>A (p.Gly847Glu) c.2090G>A (p.Gly697Glu) c.1298G>A (p.Gly433Glu) | |
| 8 | g.60841663G>C | CA371318528 | CHD7 | c.4553G>C (p.Gly1518Ala) c.1717-20566G>C (n.1717-20566G>C) c.2540G>C (p.Gly847Ala) c.2090G>C (p.Gly697Ala) c.1298G>C (p.Gly433Ala) | |
| 8 | g.60841663G>T | CA371318530 | CHD7 | c.4553G>T (p.Gly1518Val) c.1717-20566G>T (n.1717-20566G>T) c.2540G>T (p.Gly847Val) c.2090G>T (p.Gly697Val) c.1298G>T (p.Gly433Val) | |
| 8 | g.60841664A>C | CA460848025 | CHD7 | c.4554A>C (p.Gly1518=) c.1717-20565A>C (n.1717-20565A>C) c.2541A>C (p.Gly847=) c.2091A>C (p.Gly697=) c.1299A>C (p.Gly433=) | |
| 8 | g.60841664A>G | CA460848027 | CHD7 | c.4554A>G (p.Gly1518=) c.1717-20565A>G (n.1717-20565A>G) c.2541A>G (p.Gly847=) c.2091A>G (p.Gly697=) c.1299A>G (p.Gly433=) | |
| 8 | g.60841664A>T | CA460848026 | CHD7 | c.4554A>T (p.Gly1518=) c.1717-20565A>T (n.1717-20565A>T) c.2541A>T (p.Gly847=) c.2091A>T (p.Gly697=) c.1299A>T (p.Gly433=) | |
| 8 | g.60841665A>C | CA371318532 | CHD7 | c.4555A>C (p.Asn1519His) c.1717-20564A>C (n.1717-20564A>C) c.2542A>C (p.Asn848His) c.2092A>C (p.Asn698His) c.1300A>C (p.Asn434His) | |
| 8 | g.60841665A>G | CA371318533 | CHD7 | c.4555A>G (p.Asn1519Asp) c.1717-20564A>G (n.1717-20564A>G) c.2542A>G (p.Asn848Asp) c.2092A>G (p.Asn698Asp) c.1300A>G (p.Asn434Asp) | |
| 8 | g.60841665A>T | CA371318535 | CHD7 | c.4555A>T (p.Asn1519Tyr) c.1717-20564A>T (n.1717-20564A>T) c.2542A>T (p.Asn848Tyr) c.2092A>T (p.Asn698Tyr) c.1300A>T (p.Asn434Tyr) | |
| 8 | g.60841666A>C | CA371318536 | CHD7 | c.4556A>C (p.Asn1519Thr) c.1717-20563A>C (n.1717-20563A>C) c.2543A>C (p.Asn848Thr) c.2093A>C (p.Asn698Thr) c.1301A>C (p.Asn434Thr) | |
| 8 | g.60841666A>G | CA371318539 | CHD7 | c.4556A>G (p.Asn1519Ser) c.1717-20563A>G (n.1717-20563A>G) c.2543A>G (p.Asn848Ser) c.2093A>G (p.Asn698Ser) c.1301A>G (p.Asn434Ser) | |
| 8 | g.60841666A>T | CA371318537 | CHD7 | c.4556A>T (p.Asn1519Ile) c.1717-20563A>T (n.1717-20563A>T) c.2543A>T (p.Asn848Ile) c.2093A>T (p.Asn698Ile) c.1301A>T (p.Asn434Ile) | |
| 8 | g.60841667T>A | CA371318541 | CHD7 | c.4557T>A (p.Asn1519Lys) c.1717-20562T>A (n.1717-20562T>A) c.2544T>A (p.Asn848Lys) c.2094T>A (p.Asn698Lys) c.1302T>A (p.Asn434Lys) | |
| 8 | g.60841667T>C | CA460848028 | CHD7 | c.4557T>C (p.Asn1519=) c.1717-20562T>C (n.1717-20562T>C) c.2544T>C (p.Asn848=) c.2094T>C (p.Asn698=) c.1302T>C (p.Asn434=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841667T>G | CA371318542 | CHD7 | c.4557T>G (p.Asn1519Lys) c.1717-20562T>G (n.1717-20562T>G) c.2544T>G (p.Asn848Lys) c.2094T>G (p.Asn698Lys) c.1302T>G (p.Asn434Lys) | |
| 8 | g.60841667T= | CA1788122396 | CHD7 | c.4557T= (p.Asn1519=) c.1717-20562T= (n.1717-20562T=) c.2544T= (p.Asn848=) c.2094T= (p.Asn698=) c.1302T= (p.Asn434=) | |
| 8 | g.60841668A= | CA1788122400 | CHD7 | c.4558A= (p.Arg1520=) c.1717-20561A= (n.1717-20561A=) c.2545A= (p.Arg849=) c.2095A= (p.Arg699=) c.1303A= (p.Arg435=) | |
| 8 | g.60841668A>C | CA460848029 | CHD7 | c.4558A>C (p.Arg1520=) c.1717-20561A>C (n.1717-20561A>C) c.2545A>C (p.Arg849=) c.2095A>C (p.Arg699=) c.1303A>C (p.Arg435=) | |
| 8 | g.60841668A>G | CA371318544 | CHD7 | c.4558A>G (p.Arg1520Gly) c.1717-20561A>G (n.1717-20561A>G) c.2545A>G (p.Arg849Gly) c.2095A>G (p.Arg699Gly) c.1303A>G (p.Arg435Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841668A>T | CA371318545 | CHD7 | c.4558A>T (p.Arg1520Trp) c.1717-20561A>T (n.1717-20561A>T) c.2545A>T (p.Arg849Trp) c.2095A>T (p.Arg699Trp) c.1303A>T (p.Arg435Trp) | |
| 8 | g.60841669G>A | CA371318547 | CHD7 | c.4559G>A (p.Arg1520Lys) c.1717-20560G>A (n.1717-20560G>A) c.2546G>A (p.Arg849Lys) c.2096G>A (p.Arg699Lys) c.1304G>A (p.Arg435Lys) | |
| 8 | g.60841669G>C | CA371318549 | CHD7 | c.4559G>C (p.Arg1520Thr) c.1717-20560G>C (n.1717-20560G>C) c.2546G>C (p.Arg849Thr) c.2096G>C (p.Arg699Thr) c.1304G>C (p.Arg435Thr) | |
| 8 | g.60841669G>T | CA371318550 | CHD7 | c.4559G>T (p.Arg1520Met) c.1717-20560G>T (n.1717-20560G>T) c.2546G>T (p.Arg849Met) c.2096G>T (p.Arg699Met) c.1304G>T (p.Arg435Met) | |
| 8 | g.60841670G>A | CA460848030 | CHD7 | c.4560G>A (p.Arg1520=) c.1717-20559G>A (n.1717-20559G>A) c.2547G>A (p.Arg849=) c.2097G>A (p.Arg699=) c.1305G>A (p.Arg435=) | dbSNP |
| 8 | g.60841670G>C | CA371318553 | CHD7 | c.4560G>C (p.Arg1520Ser) c.1717-20559G>C (n.1717-20559G>C) c.2547G>C (p.Arg849Ser) c.2097G>C (p.Arg699Ser) c.1305G>C (p.Arg435Ser) | |
| 8 | g.60841670G= | CA1788122401 | CHD7 | c.4560G= (p.Arg1520=) c.1717-20559G= (n.1717-20559G=) c.2547G= (p.Arg849=) c.2097G= (p.Arg699=) c.1305G= (p.Arg435=) | |
| 8 | g.60841670G>T | CA371318552 | CHD7 | c.4560G>T (p.Arg1520Ser) c.1717-20559G>T (n.1717-20559G>T) c.2547G>T (p.Arg849Ser) c.2097G>T (p.Arg699Ser) c.1305G>T (p.Arg435Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60841671A= | CA1788122403 | CHD7 | c.4561A= (p.Thr1521=) c.1717-20558A= (n.1717-20558A=) c.2548A= (p.Thr850=) c.2098A= (p.Thr700=) c.1306A= (p.Thr436=) | |
| 8 | g.60841671A>C | CA371318554 | CHD7 | c.4561A>C (p.Thr1521Pro) c.1717-20558A>C (n.1717-20558A>C) c.2548A>C (p.Thr850Pro) c.2098A>C (p.Thr700Pro) c.1306A>C (p.Thr436Pro) | |
| 8 | g.60841671A>G | CA371318556 | CHD7 | c.4561A>G (p.Thr1521Ala) c.1717-20558A>G (n.1717-20558A>G) c.2548A>G (p.Thr850Ala) c.2098A>G (p.Thr700Ala) c.1306A>G (p.Thr436Ala) | ClinVar dbSNP |
| 8 | g.60841671A>T | CA371318557 | CHD7 | c.4561A>T (p.Thr1521Ser) c.1717-20558A>T (n.1717-20558A>T) c.2548A>T (p.Thr850Ser) c.2098A>T (p.Thr700Ser) c.1306A>T (p.Thr436Ser) | |
| 8 | g.60841672C>A | CA371318559 | CHD7 | c.4562C>A (p.Thr1521Lys) c.1717-20557C>A (n.1717-20557C>A) c.2549C>A (p.Thr850Lys) c.2099C>A (p.Thr700Lys) c.1307C>A (p.Thr436Lys) | |
| 8 | g.60841672C>G | CA371318561 | CHD7 | c.4562C>G (p.Thr1521Arg) c.1717-20557C>G (n.1717-20557C>G) c.2549C>G (p.Thr850Arg) c.2099C>G (p.Thr700Arg) c.1307C>G (p.Thr436Arg) | |
| 8 | g.60841672C>T | CA371318562 | CHD7 | c.4562C>T (p.Thr1521Ile) c.1717-20557C>T (n.1717-20557C>T) c.2549C>T (p.Thr850Ile) c.2099C>T (p.Thr700Ile) c.1307C>T (p.Thr436Ile) | dbSNP |
| 8 | g.60841673A>C | CA460848031 | CHD7 | c.4563A>C (p.Thr1521=) c.1717-20556A>C (n.1717-20556A>C) c.2550A>C (p.Thr850=) c.2100A>C (p.Thr700=) c.1308A>C (p.Thr436=) | |
| 8 | g.60841673A>G | CA460848032 | CHD7 | c.4563A>G (p.Thr1521=) c.1717-20556A>G (n.1717-20556A>G) c.2550A>G (p.Thr850=) c.2100A>G (p.Thr700=) c.1308A>G (p.Thr436=) | gnomAD v4 |
| 8 | g.60841673A>T | CA460848033 | CHD7 | c.4563A>T (p.Thr1521=) c.1717-20556A>T (n.1717-20556A>T) c.2550A>T (p.Thr850=) c.2100A>T (p.Thr700=) c.1308A>T (p.Thr436=) | |
| 8 | g.60841674G>A | CA371318564 | CHD7 | c.4564G>A (p.Asp1522Asn) c.1717-20555G>A (n.1717-20555G>A) c.2551G>A (p.Asp851Asn) c.2101G>A (p.Asp701Asn) c.1309G>A (p.Asp437Asn) | |
| 8 | g.60841674G>C | CA4760148 | CHD7 | c.4564G>C (p.Asp1522His) c.1717-20555G>C (n.1717-20555G>C) c.2551G>C (p.Asp851His) c.2101G>C (p.Asp701His) c.1309G>C (p.Asp437His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841674G= | CA1788122408 | CHD7 | c.4564G= (p.Asp1522=) c.1717-20555G= (n.1717-20555G=) c.2551G= (p.Asp851=) c.2101G= (p.Asp701=) c.1309G= (p.Asp437=) | |
| 8 | g.60841674G>T | CA371318566 | CHD7 | c.4564G>T (p.Asp1522Tyr) c.1717-20555G>T (n.1717-20555G>T) c.2551G>T (p.Asp851Tyr) c.2101G>T (p.Asp701Tyr) c.1309G>T (p.Asp437Tyr) | |
| 8 | g.60841675A>C | CA371318568 | CHD7 | c.4565A>C (p.Asp1522Ala) c.1717-20554A>C (n.1717-20554A>C) c.2552A>C (p.Asp851Ala) c.2102A>C (p.Asp701Ala) c.1310A>C (p.Asp437Ala) | |
| 8 | g.60841675A>G | CA371318570 | CHD7 | c.4565A>G (p.Asp1522Gly) c.1717-20554A>G (n.1717-20554A>G) c.2552A>G (p.Asp851Gly) c.2102A>G (p.Asp701Gly) c.1310A>G (p.Asp437Gly) | ClinVar dbSNP |
| 8 | g.60841675A>T | CA371318571 | CHD7 | c.4565A>T (p.Asp1522Val) c.1717-20554A>T (n.1717-20554A>T) c.2552A>T (p.Asp851Val) c.2102A>T (p.Asp701Val) c.1310A>T (p.Asp437Val) | |
| 8 | g.60841676T>A | CA371318573 | CHD7 | c.4566T>A (p.Asp1522Glu) c.1717-20553T>A (n.1717-20553T>A) c.2553T>A (p.Asp851Glu) c.2103T>A (p.Asp701Glu) c.1311T>A (p.Asp437Glu) | |
| 8 | g.60841676T>C | CA460848034 | CHD7 | c.4566T>C (p.Asp1522=) c.1717-20553T>C (n.1717-20553T>C) c.2553T>C (p.Asp851=) c.2103T>C (p.Asp701=) c.1311T>C (p.Asp437=) | |
| 8 | g.60841676T>G | CA371318574 | CHD7 | c.4566T>G (p.Asp1522Glu) c.1717-20553T>G (n.1717-20553T>G) c.2553T>G (p.Asp851Glu) c.2103T>G (p.Asp701Glu) c.1311T>G (p.Asp437Glu) | |
| 8 | g.60841677A= | CA1788122411 | CHD7 | c.4567A= (p.Ile1523=) c.1717-20552A= (n.1717-20552A=) c.2554A= (p.Ile852=) c.2104A= (p.Ile702=) c.1312A= (p.Ile438=) | |
| 8 | g.60841677A>C | CA371318576 | CHD7 | c.4567A>C (p.Ile1523Leu) c.1717-20552A>C (n.1717-20552A>C) c.2554A>C (p.Ile852Leu) c.2104A>C (p.Ile702Leu) c.1312A>C (p.Ile438Leu) | |
| 8 | g.60841677A>G | CA371318577 | CHD7 | c.4567A>G (p.Ile1523Val) c.1717-20552A>G (n.1717-20552A>G) c.2554A>G (p.Ile852Val) c.2104A>G (p.Ile702Val) c.1312A>G (p.Ile438Val) | dbSNP |
| 8 | g.60841677A>T | CA371318578 | CHD7 | c.4567A>T (p.Ile1523Phe) c.1717-20552A>T (n.1717-20552A>T) c.2554A>T (p.Ile852Phe) c.2104A>T (p.Ile702Phe) c.1312A>T (p.Ile438Phe) | |
| 8 | g.60841678T>A | CA371318580 | CHD7 | c.4568T>A (p.Ile1523Asn) c.1717-20551T>A (n.1717-20551T>A) c.2555T>A (p.Ile852Asn) c.2105T>A (p.Ile702Asn) c.1313T>A (p.Ile438Asn) | |
| 8 | g.60841678T>C | CA371318582 | CHD7 | c.4568T>C (p.Ile1523Thr) c.1717-20551T>C (n.1717-20551T>C) c.2555T>C (p.Ile852Thr) c.2105T>C (p.Ile702Thr) c.1313T>C (p.Ile438Thr) | gnomAD v4 |
| 8 | g.60841678T>G | CA371318583 | CHD7 | c.4568T>G (p.Ile1523Ser) c.1717-20551T>G (n.1717-20551T>G) c.2555T>G (p.Ile852Ser) c.2105T>G (p.Ile702Ser) c.1313T>G (p.Ile438Ser) | |
| 8 | g.60841679T>A | CA460848035 | CHD7 | c.4569T>A (p.Ile1523=) c.1717-20550T>A (n.1717-20550T>A) c.2556T>A (p.Ile852=) c.2106T>A (p.Ile702=) c.1314T>A (p.Ile438=) | |
| 8 | g.60841679T>C | CA460848036 | CHD7 | c.4569T>C (p.Ile1523=) c.1717-20550T>C (n.1717-20550T>C) c.2556T>C (p.Ile852=) c.2106T>C (p.Ile702=) c.1314T>C (p.Ile438=) | gnomAD v4 |
| 8 | g.60841679T>G | CA371318584 | CHD7 | c.4569T>G (p.Ile1523Met) c.1717-20550T>G (n.1717-20550T>G) c.2556T>G (p.Ile852Met) c.2106T>G (p.Ile702Met) c.1314T>G (p.Ile438Met) | |
| 8 | g.60841680T>A | CA371318586 | CHD7 | c.4570T>A (p.Ser1524Thr) c.1717-20549T>A (n.1717-20549T>A) c.2557T>A (p.Ser853Thr) c.2107T>A (p.Ser703Thr) c.1315T>A (p.Ser439Thr) | |
| 8 | g.60841680T>C | CA371318590 | CHD7 | c.4570T>C (p.Ser1524Pro) c.1717-20549T>C (n.1717-20549T>C) c.2557T>C (p.Ser853Pro) c.2107T>C (p.Ser703Pro) c.1315T>C (p.Ser439Pro) | |
| 8 | g.60841680T>G | CA371318588 | CHD7 | c.4570T>G (p.Ser1524Ala) c.1717-20549T>G (n.1717-20549T>G) c.2557T>G (p.Ser853Ala) c.2107T>G (p.Ser703Ala) c.1315T>G (p.Ser439Ala) | |
| 8 | g.60841681C>A | CA371318591 | CHD7 | c.4571C>A (p.Ser1524Tyr) c.1717-20548C>A (n.1717-20548C>A) c.2558C>A (p.Ser853Tyr) c.2108C>A (p.Ser703Tyr) c.1316C>A (p.Ser439Tyr) | gnomAD v4 |
| 8 | g.60841681C>G | CA371318592 | CHD7 | c.4571C>G (p.Ser1524Cys) c.1717-20548C>G (n.1717-20548C>G) c.2558C>G (p.Ser853Cys) c.2108C>G (p.Ser703Cys) c.1316C>G (p.Ser439Cys) | |
| 8 | g.60841681C>T | CA371318593 | CHD7 | c.4571C>T (p.Ser1524Phe) c.1717-20548C>T (n.1717-20548C>T) c.2558C>T (p.Ser853Phe) c.2108C>T (p.Ser703Phe) c.1316C>T (p.Ser439Phe) | |
| 8 | g.60841682C>A | CA460848037 | CHD7 | c.4572C>A (p.Ser1524=) c.1717-20547C>A (n.1717-20547C>A) c.2559C>A (p.Ser853=) c.2109C>A (p.Ser703=) c.1317C>A (p.Ser439=) | |
| 8 | g.60841682C= | CA1788122417 | CHD7 | c.4572C= (p.Ser1524=) c.1717-20547C= (n.1717-20547C=) c.2559C= (p.Ser853=) c.2109C= (p.Ser703=) c.1317C= (p.Ser439=) | |
| 8 | g.60841682C>G | CA460848038 | CHD7 | c.4572C>G (p.Ser1524=) c.1717-20547C>G (n.1717-20547C>G) c.2559C>G (p.Ser853=) c.2109C>G (p.Ser703=) c.1317C>G (p.Ser439=) | |
| 8 | g.60841682C>T | CA177349897 | CHD7 | c.4572C>T (p.Ser1524=) c.1717-20547C>T (n.1717-20547C>T) c.2559C>T (p.Ser853=) c.2109C>T (p.Ser703=) c.1317C>T (p.Ser439=) | dbSNP gnomAD v4 |
| 8 | g.60841683T>A | CA371318595 | CHD7 | c.4573T>A (p.Leu1525Met) c.1717-20546T>A (n.1717-20546T>A) c.2560T>A (p.Leu854Met) c.2110T>A (p.Leu704Met) c.1318T>A (p.Leu440Met) | |
| 8 | g.60841683T>C | CA460848039 | CHD7 | c.4573T>C (p.Leu1525=) c.1717-20546T>C (n.1717-20546T>C) c.2560T>C (p.Leu854=) c.2110T>C (p.Leu704=) c.1318T>C (p.Leu440=) | ClinVar |
| 8 | g.60841683T>G | CA371318597 | CHD7 | c.4573T>G (p.Leu1525Val) c.1717-20546T>G (n.1717-20546T>G) c.2560T>G (p.Leu854Val) c.2110T>G (p.Leu704Val) c.1318T>G (p.Leu440Val) | |
| 8 | g.60841684T>A | CA371318598 | CHD7 | c.4574T>A (p.Leu1525Ter) c.1717-20545T>A (n.1717-20545T>A) c.2561T>A (p.Leu854Ter) c.2111T>A (p.Leu704Ter) c.1319T>A (p.Leu440Ter) | |
| 8 | g.60841684T>C | CA371318599 | CHD7 | c.4574T>C (p.Leu1525Ser) c.1717-20545T>C (n.1717-20545T>C) c.2561T>C (p.Leu854Ser) c.2111T>C (p.Leu704Ser) c.1319T>C (p.Leu440Ser) | ClinVar dbSNP |
| 8 | g.60841684T>G | CA371318600 | CHD7 | c.4574T>G (p.Leu1525Trp) c.1717-20545T>G (n.1717-20545T>G) c.2561T>G (p.Leu854Trp) c.2111T>G (p.Leu704Trp) c.1319T>G (p.Leu440Trp) | |
| 8 | g.60841685G>A | CA460848040 | CHD7 | c.4575G>A (p.Leu1525=) c.1717-20544G>A (n.1717-20544G>A) c.2562G>A (p.Leu854=) c.2112G>A (p.Leu704=) c.1320G>A (p.Leu440=) | |
| 8 | g.60841685G>C | CA371318601 | CHD7 | c.4575G>C (p.Leu1525Phe) c.1717-20544G>C (n.1717-20544G>C) c.2562G>C (p.Leu854Phe) c.2112G>C (p.Leu704Phe) c.1320G>C (p.Leu440Phe) | |
| 8 | g.60841685G>T | CA371318602 | CHD7 | c.4575G>T (p.Leu1525Phe) c.1717-20544G>T (n.1717-20544G>T) c.2562G>T (p.Leu854Phe) c.2112G>T (p.Leu704Phe) c.1320G>T (p.Leu440Phe) | |
| 8 | g.60841686G>A | CA371318604 | CHD7 | c.4576G>A (p.Asp1526Asn) c.1717-20543G>A (n.1717-20543G>A) c.2563G>A (p.Asp855Asn) c.2113G>A (p.Asp705Asn) c.1321G>A (p.Asp441Asn) | gnomAD v4 |
| 8 | g.60841686G>C | CA371318605 | CHD7 | c.4576G>C (p.Asp1526His) c.1717-20543G>C (n.1717-20543G>C) c.2563G>C (p.Asp855His) c.2113G>C (p.Asp705His) c.1321G>C (p.Asp441His) | |
| 8 | g.60841686G>T | CA371318606 | CHD7 | c.4576G>T (p.Asp1526Tyr) c.1717-20543G>T (n.1717-20543G>T) c.2563G>T (p.Asp855Tyr) c.2113G>T (p.Asp705Tyr) c.1321G>T (p.Asp441Tyr) | gnomAD v4 |
| 8 | g.60841687A>C | CA371318608 | CHD7 | c.4577A>C (p.Asp1526Ala) c.1717-20542A>C (n.1717-20542A>C) c.2564A>C (p.Asp855Ala) c.2114A>C (p.Asp705Ala) c.1322A>C (p.Asp441Ala) | |
| 8 | g.60841687A>G | CA371318610 | CHD7 | c.4577A>G (p.Asp1526Gly) c.1717-20542A>G (n.1717-20542A>G) c.2564A>G (p.Asp855Gly) c.2114A>G (p.Asp705Gly) c.1322A>G (p.Asp441Gly) | ClinVar |
| 8 | g.60841687A>T | CA371318609 | CHD7 | c.4577A>T (p.Asp1526Val) c.1717-20542A>T (n.1717-20542A>T) c.2564A>T (p.Asp855Val) c.2114A>T (p.Asp705Val) c.1322A>T (p.Asp441Val) | |
| 8 | g.60841688T>A | CA371318612 | CHD7 | c.4578T>A (p.Asp1526Glu) c.1717-20541T>A (n.1717-20541T>A) c.2565T>A (p.Asp855Glu) c.2115T>A (p.Asp705Glu) c.1323T>A (p.Asp441Glu) | |
| 8 | g.60841688T>C | CA460848041 | CHD7 | c.4578T>C (p.Asp1526=) c.1717-20541T>C (n.1717-20541T>C) c.2565T>C (p.Asp855=) c.2115T>C (p.Asp705=) c.1323T>C (p.Asp441=) | |
| 8 | g.60841688T>G | CA371318614 | CHD7 | c.4578T>G (p.Asp1526Glu) c.1717-20541T>G (n.1717-20541T>G) c.2565T>G (p.Asp855Glu) c.2115T>G (p.Asp705Glu) c.1323T>G (p.Asp441Glu) | |
| 8 | g.60841689G>A | CA371318616 | CHD7 | c.4579G>A (p.Asp1527Asn) c.1717-20540G>A (n.1717-20540G>A) c.2566G>A (p.Asp856Asn) c.2116G>A (p.Asp706Asn) c.1324G>A (p.Asp442Asn) | |
| 8 | g.60841689G>C | CA371318617 | CHD7 | c.4579G>C (p.Asp1527His) c.1717-20540G>C (n.1717-20540G>C) c.2566G>C (p.Asp856His) c.2116G>C (p.Asp706His) c.1324G>C (p.Asp442His) | |
| 8 | g.60841689G>T | CA371318619 | CHD7 | c.4579G>T (p.Asp1527Tyr) c.1717-20540G>T (n.1717-20540G>T) c.2566G>T (p.Asp856Tyr) c.2116G>T (p.Asp706Tyr) c.1324G>T (p.Asp442Tyr) | |
| 8 | g.60841690A>C | CA371318621 | CHD7 | c.4580A>C (p.Asp1527Ala) c.1717-20539A>C (n.1717-20539A>C) c.2567A>C (p.Asp856Ala) c.2117A>C (p.Asp706Ala) c.1325A>C (p.Asp442Ala) | |
| 8 | g.60841690A>G | CA371318622 | CHD7 | c.4580A>G (p.Asp1527Gly) c.1717-20539A>G (n.1717-20539A>G) c.2567A>G (p.Asp856Gly) c.2117A>G (p.Asp706Gly) c.1325A>G (p.Asp442Gly) | |
| 8 | g.60841690A>T | CA371318623 | CHD7 | c.4580A>T (p.Asp1527Val) c.1717-20539A>T (n.1717-20539A>T) c.2567A>T (p.Asp856Val) c.2117A>T (p.Asp706Val) c.1325A>T (p.Asp442Val) | |
| 8 | g.60841691T>A | CA371318625 | CHD7 | c.4581T>A (p.Asp1527Glu) c.1717-20538T>A (n.1717-20538T>A) c.2568T>A (p.Asp856Glu) c.2118T>A (p.Asp706Glu) c.1326T>A (p.Asp442Glu) | |
| 8 | g.60841691T>C | CA460848042 | CHD7 | c.4581T>C (p.Asp1527=) c.1717-20538T>C (n.1717-20538T>C) c.2568T>C (p.Asp856=) c.2118T>C (p.Asp706=) c.1326T>C (p.Asp442=) | |
| 8 | g.60841691T>G | CA371318627 | CHD7 | c.4581T>G (p.Asp1527Glu) c.1717-20538T>G (n.1717-20538T>G) c.2568T>G (p.Asp856Glu) c.2118T>G (p.Asp706Glu) c.1326T>G (p.Asp442Glu) | |
| 8 | g.60841692C>A | CA371318629 | CHD7 | c.4582C>A (p.Pro1528Thr) c.1717-20537C>A (n.1717-20537C>A) c.2569C>A (p.Pro857Thr) c.2119C>A (p.Pro707Thr) c.1327C>A (p.Pro443Thr) | |
| 8 | g.60841692C>G | CA371318631 | CHD7 | c.4582C>G (p.Pro1528Ala) c.1717-20537C>G (n.1717-20537C>G) c.2569C>G (p.Pro857Ala) c.2119C>G (p.Pro707Ala) c.1327C>G (p.Pro443Ala) | |
| 8 | g.60841692C>T | CA371318630 | CHD7 | c.4582C>T (p.Pro1528Ser) c.1717-20537C>T (n.1717-20537C>T) c.2569C>T (p.Pro857Ser) c.2119C>T (p.Pro707Ser) c.1327C>T (p.Pro443Ser) | |
| 8 | g.60841693C>A | CA4760149 | CHD7 | c.4583C>A (p.Pro1528Gln) c.1717-20536C>A (n.1717-20536C>A) c.2570C>A (p.Pro857Gln) c.2120C>A (p.Pro707Gln) c.1328C>A (p.Pro443Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841693C= | CA1788122420 | CHD7 | c.4583C= (p.Pro1528=) c.1717-20536C= (n.1717-20536C=) c.2570C= (p.Pro857=) c.2120C= (p.Pro707=) c.1328C= (p.Pro443=) | |
| 8 | g.60841693C>G | CA371318635 | CHD7 | c.4583C>G (p.Pro1528Arg) c.1717-20536C>G (n.1717-20536C>G) c.2570C>G (p.Pro857Arg) c.2120C>G (p.Pro707Arg) c.1328C>G (p.Pro443Arg) | |
| 8 | g.60841693C>T | CA371318634 | CHD7 | c.4583C>T (p.Pro1528Leu) c.1717-20536C>T (n.1717-20536C>T) c.2570C>T (p.Pro857Leu) c.2120C>T (p.Pro707Leu) c.1328C>T (p.Pro443Leu) | |
| 8 | g.60841694A>C | CA460848045 | CHD7 | c.4584A>C (p.Pro1528=) c.1717-20535A>C (n.1717-20535A>C) c.2571A>C (p.Pro857=) c.2121A>C (p.Pro707=) c.1329A>C (p.Pro443=) | |
| 8 | g.60841694A>G | CA460848044 | CHD7 | c.4584A>G (p.Pro1528=) c.1717-20535A>G (n.1717-20535A>G) c.2571A>G (p.Pro857=) c.2121A>G (p.Pro707=) c.1329A>G (p.Pro443=) | |
| 8 | g.60841694A>T | CA460848043 | CHD7 | c.4584A>T (p.Pro1528=) c.1717-20535A>T (n.1717-20535A>T) c.2571A>T (p.Pro857=) c.2121A>T (p.Pro707=) c.1329A>T (p.Pro443=) | |
| 8 | g.60841695A>C | CA371318636 | CHD7 | c.4585A>C (p.Asn1529His) c.1717-20534A>C (n.1717-20534A>C) c.2572A>C (p.Asn858His) c.2122A>C (p.Asn708His) c.1330A>C (p.Asn444His) | |
| 8 | g.60841695A>G | CA371318638 | CHD7 | c.4585A>G (p.Asn1529Asp) c.1717-20534A>G (n.1717-20534A>G) c.2572A>G (p.Asn858Asp) c.2122A>G (p.Asn708Asp) c.1330A>G (p.Asn444Asp) | |
| 8 | g.60841695A>T | CA371318637 | CHD7 | c.4585A>T (p.Asn1529Tyr) c.1717-20534A>T (n.1717-20534A>T) c.2572A>T (p.Asn858Tyr) c.2122A>T (p.Asn708Tyr) c.1330A>T (p.Asn444Tyr) | |
| 8 | g.60841696A>C | CA371318640 | CHD7 | c.4586A>C (p.Asn1529Thr) c.1717-20533A>C (n.1717-20533A>C) c.2573A>C (p.Asn858Thr) c.2123A>C (p.Asn708Thr) c.1331A>C (p.Asn444Thr) | |
| 8 | g.60841696A>G | CA371318642 | CHD7 | c.4586A>G (p.Asn1529Ser) c.1717-20533A>G (n.1717-20533A>G) c.2573A>G (p.Asn858Ser) c.2123A>G (p.Asn708Ser) c.1331A>G (p.Asn444Ser) | |
| 8 | g.60841696A>T | CA371318643 | CHD7 | c.4586A>T (p.Asn1529Ile) c.1717-20533A>T (n.1717-20533A>T) c.2573A>T (p.Asn858Ile) c.2123A>T (p.Asn708Ile) c.1331A>T (p.Asn444Ile) | |
| 8 | g.60841697T>A | CA371318644 | CHD7 | c.4587T>A (p.Asn1529Lys) c.1717-20532T>A (n.1717-20532T>A) c.2574T>A (p.Asn858Lys) c.2124T>A (p.Asn708Lys) c.1332T>A (p.Asn444Lys) | |
| 8 | g.60841697T>C | CA460848047 | CHD7 | c.4587T>C (p.Asn1529=) c.1717-20532T>C (n.1717-20532T>C) c.2574T>C (p.Asn858=) c.2124T>C (p.Asn708=) c.1332T>C (p.Asn444=) | |
| 8 | g.60841697T>G | CA371318645 | CHD7 | c.4587T>G (p.Asn1529Lys) c.1717-20532T>G (n.1717-20532T>G) c.2574T>G (p.Asn858Lys) c.2124T>G (p.Asn708Lys) c.1332T>G (p.Asn444Lys) | |
| 8 | g.60841698T>A | CA371318647 | CHD7 | c.4588T>A (p.Phe1530Ile) c.1717-20531T>A (n.1717-20531T>A) c.2575T>A (p.Phe859Ile) c.2125T>A (p.Phe709Ile) c.1333T>A (p.Phe445Ile) | |
| 8 | g.60841698T>C | CA371318648 | CHD7 | c.4588T>C (p.Phe1530Leu) c.1717-20531T>C (n.1717-20531T>C) c.2575T>C (p.Phe859Leu) c.2125T>C (p.Phe709Leu) c.1333T>C (p.Phe445Leu) | |
| 8 | g.60841698T>G | CA371318649 | CHD7 | c.4588T>G (p.Phe1530Val) c.1717-20531T>G (n.1717-20531T>G) c.2575T>G (p.Phe859Val) c.2125T>G (p.Phe709Val) c.1333T>G (p.Phe445Val) | |
| 8 | g.60841699T>A | CA371318651 | CHD7 | c.4589T>A (p.Phe1530Tyr) c.1717-20530T>A (n.1717-20530T>A) c.2576T>A (p.Phe859Tyr) c.2126T>A (p.Phe709Tyr) c.1334T>A (p.Phe445Tyr) | |
| 8 | g.60841699T>C | CA371318652 | CHD7 | c.4589T>C (p.Phe1530Ser) c.1717-20530T>C (n.1717-20530T>C) c.2576T>C (p.Phe859Ser) c.2126T>C (p.Phe709Ser) c.1334T>C (p.Phe445Ser) | |
| 8 | g.60841699T>G | CA371318653 | CHD7 | c.4589T>G (p.Phe1530Cys) c.1717-20530T>G (n.1717-20530T>G) c.2576T>G (p.Phe859Cys) c.2126T>G (p.Phe709Cys) c.1334T>G (p.Phe445Cys) | |
| 8 | g.60841700C>A | CA371318655 | CHD7 | c.4590C>A (p.Phe1530Leu) c.1717-20529C>A (n.1717-20529C>A) c.2577C>A (p.Phe859Leu) c.2127C>A (p.Phe709Leu) c.1335C>A (p.Phe445Leu) | |
| 8 | g.60841700C>G | CA371318657 | CHD7 | c.4590C>G (p.Phe1530Leu) c.1717-20529C>G (n.1717-20529C>G) c.2577C>G (p.Phe859Leu) c.2127C>G (p.Phe709Leu) c.1335C>G (p.Phe445Leu) | |
| 8 | g.60841700C>T | CA460848048 | CHD7 | c.4590C>T (p.Phe1530=) c.1717-20529C>T (n.1717-20529C>T) c.2577C>T (p.Phe859=) c.2127C>T (p.Phe709=) c.1335C>T (p.Phe445=) | |
| 8 | g.60841701T>A | CA371318659 | CHD7 | c.4591T>A (p.Trp1531Arg) c.1717-20528T>A (n.1717-20528T>A) c.2578T>A (p.Trp860Arg) c.2128T>A (p.Trp710Arg) c.1336T>A (p.Trp446Arg) | |
| 8 | g.60841701T>C | CA371318661 | CHD7 | c.4591T>C (p.Trp1531Arg) c.1717-20528T>C (n.1717-20528T>C) c.2578T>C (p.Trp860Arg) c.2128T>C (p.Trp710Arg) c.1336T>C (p.Trp446Arg) | |
| 8 | g.60841701T>G | CA371318660 | CHD7 | c.4591T>G (p.Trp1531Gly) c.1717-20528T>G (n.1717-20528T>G) c.2578T>G (p.Trp860Gly) c.2128T>G (p.Trp710Gly) c.1336T>G (p.Trp446Gly) | |
| 8 | g.60841702G>A | CA371318662 | CHD7 | c.4592G>A (p.Trp1531Ter) c.1717-20527G>A (n.1717-20527G>A) c.2579G>A (p.Trp860Ter) c.2129G>A (p.Trp710Ter) c.1337G>A (p.Trp446Ter) | |
| 8 | g.60841702G>C | CA371318663 | CHD7 | c.4592G>C (p.Trp1531Ser) c.1717-20527G>C (n.1717-20527G>C) c.2579G>C (p.Trp860Ser) c.2129G>C (p.Trp710Ser) c.1337G>C (p.Trp446Ser) | |
| 8 | g.60841702G>T | CA371318664 | CHD7 | c.4592G>T (p.Trp1531Leu) c.1717-20527G>T (n.1717-20527G>T) c.2579G>T (p.Trp860Leu) c.2129G>T (p.Trp710Leu) c.1337G>T (p.Trp446Leu) | |
| 8 | g.60841703G>A | CA371318666 | CHD7 | c.4593G>A (p.Trp1531Ter) c.1717-20526G>A (n.1717-20526G>A) c.2580G>A (p.Trp860Ter) c.2130G>A (p.Trp710Ter) c.1338G>A (p.Trp446Ter) | ClinVar dbSNP |
| 8 | g.60841703G>C | CA371318668 | CHD7 | c.4593G>C (p.Trp1531Cys) c.1717-20526G>C (n.1717-20526G>C) c.2580G>C (p.Trp860Cys) c.2130G>C (p.Trp710Cys) c.1338G>C (p.Trp446Cys) | |
| 8 | g.60841703G>T | CA371318669 | CHD7 | c.4593G>T (p.Trp1531Cys) c.1717-20526G>T (n.1717-20526G>T) c.2580G>T (p.Trp860Cys) c.2130G>T (p.Trp710Cys) c.1338G>T (p.Trp446Cys) | |
| 8 | g.60841704C>A | CA371318671 | CHD7 | c.4594C>A (p.Gln1532Lys) c.1717-20525C>A (n.1717-20525C>A) c.2581C>A (p.Gln861Lys) c.2131C>A (p.Gln711Lys) c.1339C>A (p.Gln447Lys) | |
| 8 | g.60841704C>G | CA371318672 | CHD7 | c.4594C>G (p.Gln1532Glu) c.1717-20525C>G (n.1717-20525C>G) c.2581C>G (p.Gln861Glu) c.2131C>G (p.Gln711Glu) c.1339C>G (p.Gln447Glu) | ClinVar dbSNP |
| 8 | g.60841704C>T | CA371318673 | CHD7 | c.4594C>T (p.Gln1532Ter) c.1717-20525C>T (n.1717-20525C>T) c.2581C>T (p.Gln861Ter) c.2131C>T (p.Gln711Ter) c.1339C>T (p.Gln447Ter) | |
| 8 | g.60841705A>C | CA371318678 | CHD7 | c.4595A>C (p.Gln1532Pro) c.1717-20524A>C (n.1717-20524A>C) c.2582A>C (p.Gln861Pro) c.2132A>C (p.Gln711Pro) c.1340A>C (p.Gln447Pro) | |
| 8 | g.60841705A>G | CA371318677 | CHD7 | c.4595A>G (p.Gln1532Arg) c.1717-20524A>G (n.1717-20524A>G) c.2582A>G (p.Gln861Arg) c.2132A>G (p.Gln711Arg) c.1340A>G (p.Gln447Arg) | |
| 8 | g.60841705A>T | CA371318675 | CHD7 | c.4595A>T (p.Gln1532Leu) c.1717-20524A>T (n.1717-20524A>T) c.2582A>T (p.Gln861Leu) c.2132A>T (p.Gln711Leu) c.1340A>T (p.Gln447Leu) | |
| 8 | g.60841706A= | CA1788122426 | CHD7 | c.4596A= (p.Gln1532=) c.1717-20523A= (n.1717-20523A=) c.2583A= (p.Gln861=) c.2133A= (p.Gln711=) c.1341A= (p.Gln447=) | |
| 8 | g.60841706A>C | CA371318680 | CHD7 | c.4596A>C (p.Gln1532His) c.1717-20523A>C (n.1717-20523A>C) c.2583A>C (p.Gln861His) c.2133A>C (p.Gln711His) c.1341A>C (p.Gln447His) | |
| 8 | g.60841706A>G | CA460848049 | CHD7 | c.4596A>G (p.Gln1532=) c.1717-20523A>G (n.1717-20523A>G) c.2583A>G (p.Gln861=) c.2133A>G (p.Gln711=) c.1341A>G (p.Gln447=) | dbSNP gnomAD v4 |
| 8 | g.60841706A>T | CA371318681 | CHD7 | c.4596A>T (p.Gln1532His) c.1717-20523A>T (n.1717-20523A>T) c.2583A>T (p.Gln861His) c.2133A>T (p.Gln711His) c.1341A>T (p.Gln447His) | |
| 8 | g.60841707A>C | CA371318682 | CHD7 | c.4597A>C (p.Lys1533Gln) c.1717-20522A>C (n.1717-20522A>C) c.2584A>C (p.Lys862Gln) c.2134A>C (p.Lys712Gln) c.1342A>C (p.Lys448Gln) | |
| 8 | g.60841707A>G | CA371318683 | CHD7 | c.4597A>G (p.Lys1533Glu) c.1717-20522A>G (n.1717-20522A>G) c.2584A>G (p.Lys862Glu) c.2134A>G (p.Lys712Glu) c.1342A>G (p.Lys448Glu) | |
| 8 | g.60841707A>T | CA371318684 | CHD7 | c.4597A>T (p.Lys1533Ter) c.1717-20522A>T (n.1717-20522A>T) c.2584A>T (p.Lys862Ter) c.2134A>T (p.Lys712Ter) c.1342A>T (p.Lys448Ter) | |
| 8 | g.60841708A>C | CA371318685 | CHD7 | c.4598A>C (p.Lys1533Thr) c.1717-20521A>C (n.1717-20521A>C) c.2585A>C (p.Lys862Thr) c.2135A>C (p.Lys712Thr) c.1343A>C (p.Lys448Thr) | |
| 8 | g.60841708A>G | CA371318687 | CHD7 | c.4598A>G (p.Lys1533Arg) c.1717-20521A>G (n.1717-20521A>G) c.2585A>G (p.Lys862Arg) c.2135A>G (p.Lys712Arg) c.1343A>G (p.Lys448Arg) | |
| 8 | g.60841708A>T | CA371318688 | CHD7 | c.4598A>T (p.Lys1533Met) c.1717-20521A>T (n.1717-20521A>T) c.2585A>T (p.Lys862Met) c.2135A>T (p.Lys712Met) c.1343A>T (p.Lys448Met) | |
| 8 | g.60841709G>A | CA460848050 | CHD7 | c.4599G>A (p.Lys1533=) c.1717-20520G>A (n.1717-20520G>A) c.2586G>A (p.Lys862=) c.2136G>A (p.Lys712=) c.1344G>A (p.Lys448=) | |
| 8 | g.60841709G>C | CA371318689 | CHD7 | c.4599G>C (p.Lys1533Asn) c.1717-20520G>C (n.1717-20520G>C) c.2586G>C (p.Lys862Asn) c.2136G>C (p.Lys712Asn) c.1344G>C (p.Lys448Asn) | |
| 8 | g.60841709G>T | CA371318690 | CHD7 | c.4599G>T (p.Lys1533Asn) c.1717-20520G>T (n.1717-20520G>T) c.2586G>T (p.Lys862Asn) c.2136G>T (p.Lys712Asn) c.1344G>T (p.Lys448Asn) | |
| 8 | g.60841710T>A | CA371318692 | CHD7 | c.4600T>A (p.Trp1534Arg) c.1717-20519T>A (n.1717-20519T>A) c.2587T>A (p.Trp863Arg) c.2137T>A (p.Trp713Arg) c.1345T>A (p.Trp449Arg) | |
| 8 | g.60841710T>C | CA371318693 | CHD7 | c.4600T>C (p.Trp1534Arg) c.1717-20519T>C (n.1717-20519T>C) c.2587T>C (p.Trp863Arg) c.2137T>C (p.Trp713Arg) c.1345T>C (p.Trp449Arg) | |
| 8 | g.60841710T>G | CA371318695 | CHD7 | c.4600T>G (p.Trp1534Gly) c.1717-20519T>G (n.1717-20519T>G) c.2587T>G (p.Trp863Gly) c.2137T>G (p.Trp713Gly) c.1345T>G (p.Trp449Gly) | |
| 8 | g.60841711G>A | CA371318697 | CHD7 | c.4601G>A (p.Trp1534Ter) c.1717-20518G>A (n.1717-20518G>A) c.2588G>A (p.Trp863Ter) c.2138G>A (p.Trp713Ter) c.1346G>A (p.Trp449Ter) | |
| 8 | g.60841711G>C | CA371318699 | CHD7 | c.4601G>C (p.Trp1534Ser) c.1717-20518G>C (n.1717-20518G>C) c.2588G>C (p.Trp863Ser) c.2138G>C (p.Trp713Ser) c.1346G>C (p.Trp449Ser) | |
| 8 | g.60841711G>T | CA371318698 | CHD7 | c.4601G>T (p.Trp1534Leu) c.1717-20518G>T (n.1717-20518G>T) c.2588G>T (p.Trp863Leu) c.2138G>T (p.Trp713Leu) c.1346G>T (p.Trp449Leu) | |
| 8 | g.60841712G>A | CA371318701 | CHD7 | c.4602G>A (p.Trp1534Ter) c.1717-20517G>A (n.1717-20517G>A) c.2589G>A (p.Trp863Ter) c.2139G>A (p.Trp713Ter) c.1347G>A (p.Trp449Ter) | |
| 8 | g.60841712G>C | CA371318702 | CHD7 | c.4602G>C (p.Trp1534Cys) c.1717-20517G>C (n.1717-20517G>C) c.2589G>C (p.Trp863Cys) c.2139G>C (p.Trp713Cys) c.1347G>C (p.Trp449Cys) | |
| 8 | g.60841712G>T | CA371318704 | CHD7 | c.4602G>T (p.Trp1534Cys) c.1717-20517G>T (n.1717-20517G>T) c.2589G>T (p.Trp863Cys) c.2139G>T (p.Trp713Cys) c.1347G>T (p.Trp449Cys) | |
| 8 | g.60841713G>A | CA371318706 | CHD7 | c.4603G>A (p.Ala1535Thr) c.1717-20516G>A (n.1717-20516G>A) c.2590G>A (p.Ala864Thr) c.2140G>A (p.Ala714Thr) c.1348G>A (p.Ala450Thr) | gnomAD v4 COSMIC |
| 8 | g.60841713G>C | CA371318707 | CHD7 | c.4603G>C (p.Ala1535Pro) c.1717-20516G>C (n.1717-20516G>C) c.2590G>C (p.Ala864Pro) c.2140G>C (p.Ala714Pro) c.1348G>C (p.Ala450Pro) | |
| 8 | g.60841713G>T | CA371318708 | CHD7 | c.4603G>T (p.Ala1535Ser) c.1717-20516G>T (n.1717-20516G>T) c.2590G>T (p.Ala864Ser) c.2140G>T (p.Ala714Ser) c.1348G>T (p.Ala450Ser) | |
| 8 | g.60841714C>A | CA371318710 | CHD7 | c.4604C>A (p.Ala1535Asp) c.1717-20515C>A (n.1717-20515C>A) c.2591C>A (p.Ala864Asp) c.2141C>A (p.Ala714Asp) c.1349C>A (p.Ala450Asp) | |
| 8 | g.60841714C>G | CA371318712 | CHD7 | c.4604C>G (p.Ala1535Gly) c.1717-20515C>G (n.1717-20515C>G) c.2591C>G (p.Ala864Gly) c.2141C>G (p.Ala714Gly) c.1349C>G (p.Ala450Gly) | |
| 8 | g.60841714C>T | CA371318713 | CHD7 | c.4604C>T (p.Ala1535Val) c.1717-20515C>T (n.1717-20515C>T) c.2591C>T (p.Ala864Val) c.2141C>T (p.Ala714Val) c.1349C>T (p.Ala450Val) | |
| 8 | g.60841715T>A | CA460848057 | CHD7 | c.4605T>A (p.Ala1535=) c.1717-20514T>A (n.1717-20514T>A) c.2592T>A (p.Ala864=) c.2142T>A (p.Ala714=) c.1350T>A (p.Ala450=) | |
| 8 | g.60841715T>C | CA177349903 | CHD7 | c.4605T>C (p.Ala1535=) c.1717-20514T>C (n.1717-20514T>C) c.2592T>C (p.Ala864=) c.2142T>C (p.Ala714=) c.1350T>C (p.Ala450=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60841715T>G | CA460848058 | CHD7 | c.4605T>G (p.Ala1535=) c.1717-20514T>G (n.1717-20514T>G) c.2592T>G (p.Ala864=) c.2142T>G (p.Ala714=) c.1350T>G (p.Ala450=) | |
| 8 | g.60841715T= | CA1788122428 | CHD7 | c.4605T= (p.Ala1535=) c.1717-20514T= (n.1717-20514T=) c.2592T= (p.Ala864=) c.2142T= (p.Ala714=) c.1350T= (p.Ala450=) | |
| 8 | g.60841716A= | CA1788122432 | CHD7 | c.4606A= (p.Lys1536=) c.1717-20513A= (n.1717-20513A=) c.2593A= (p.Lys865=) c.2143A= (p.Lys715=) c.1351A= (p.Lys451=) | |
| 8 | g.60841716A>C | CA371318717 | CHD7 | c.4606A>C (p.Lys1536Gln) c.1717-20513A>C (n.1717-20513A>C) c.2593A>C (p.Lys865Gln) c.2143A>C (p.Lys715Gln) c.1351A>C (p.Lys451Gln) | |
| 8 | g.60841716A>G | CA4760150 | CHD7 | c.4606A>G (p.Lys1536Glu) c.1717-20513A>G (n.1717-20513A>G) c.2593A>G (p.Lys865Glu) c.2143A>G (p.Lys715Glu) c.1351A>G (p.Lys451Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60841716A>T | CA371318715 | CHD7 | c.4606A>T (p.Lys1536Ter) c.1717-20513A>T (n.1717-20513A>T) c.2593A>T (p.Lys865Ter) c.2143A>T (p.Lys715Ter) c.1351A>T (p.Lys451Ter) | |
| 8 | g.60841717A>C | CA371318719 | CHD7 | c.4607A>C (p.Lys1536Thr) c.1717-20512A>C (n.1717-20512A>C) c.2594A>C (p.Lys865Thr) c.2144A>C (p.Lys715Thr) c.1352A>C (p.Lys451Thr) | |
| 8 | g.60841717A>G | CA371318722 | CHD7 | c.4607A>G (p.Lys1536Arg) c.1717-20512A>G (n.1717-20512A>G) c.2594A>G (p.Lys865Arg) c.2144A>G (p.Lys715Arg) c.1352A>G (p.Lys451Arg) | COSMIC |
| 8 | g.60841717A>T | CA371318721 | CHD7 | c.4607A>T (p.Lys1536Met) c.1717-20512A>T (n.1717-20512A>T) c.2594A>T (p.Lys865Met) c.2144A>T (p.Lys715Met) c.1352A>T (p.Lys451Met) | |
| 8 | g.60841718G>A | CA460848062 | CHD7 | c.4608G>A (p.Lys1536=) c.1717-20511G>A (n.1717-20511G>A) c.2595G>A (p.Lys865=) c.2145G>A (p.Lys715=) c.1353G>A (p.Lys451=) | |
| 8 | g.60841718G>C | CA371318723 | CHD7 | c.4608G>C (p.Lys1536Asn) c.1717-20511G>C (n.1717-20511G>C) c.2595G>C (p.Lys865Asn) c.2145G>C (p.Lys715Asn) c.1353G>C (p.Lys451Asn) | |
| 8 | g.60841718G>T | CA371318725 | CHD7 | c.4608G>T (p.Lys1536Asn) c.1717-20511G>T (n.1717-20511G>T) c.2595G>T (p.Lys865Asn) c.2145G>T (p.Lys715Asn) c.1353G>T (p.Lys451Asn) | COSMIC |
| 8 | g.60841718_60841719delinsCTT | CA2695209727 | CHD7 | c.4608_4609delinsCTT (p.Lys1536AsnfsTer4) c.1717-20511_1717-20510delinsCTT (n.1717-20511_1717-20510delinsCTT) c.2595_2596delinsCTT (p.Lys865AsnfsTer4) c.2145_2146delinsCTT (p.Lys715AsnfsTer4) c.1353_1354delinsCTT (p.Lys451AsnfsTer4) | |
| 8 | g.60841719A= | CA1788122435 | CHD7 | c.4609A= (p.Lys1537=) c.1717-20510A= (n.1717-20510A=) c.2596A= (p.Lys866=) c.2146A= (p.Lys716=) c.1354A= (p.Lys452=) | |
| 8 | g.60841719A>C | CA371318727 | CHD7 | c.4609A>C (p.Lys1537Gln) c.1717-20510A>C (n.1717-20510A>C) c.2596A>C (p.Lys866Gln) c.2146A>C (p.Lys716Gln) c.1354A>C (p.Lys452Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60841719A>G | CA371318729 | CHD7 | c.4609A>G (p.Lys1537Glu) c.1717-20510A>G (n.1717-20510A>G) c.2596A>G (p.Lys866Glu) c.2146A>G (p.Lys716Glu) c.1354A>G (p.Lys452Glu) | |
| 8 | g.60841719A>T | CA16605402 | CHD7 | c.4609A>T (p.Lys1537Ter) c.1717-20510A>T (n.1717-20510A>T) c.2596A>T (p.Lys866Ter) c.2146A>T (p.Lys716Ter) c.1354A>T (p.Lys452Ter) | ClinVar dbSNP |
| 8 | g.60841720A>C | CA371318730 | CHD7 | c.4610A>C (p.Lys1537Thr) c.1717-20509A>C (n.1717-20509A>C) c.2597A>C (p.Lys866Thr) c.2147A>C (p.Lys716Thr) c.1355A>C (p.Lys452Thr) | |
| 8 | g.60841720A>G | CA371318732 | CHD7 | c.4610A>G (p.Lys1537Arg) c.1717-20509A>G (n.1717-20509A>G) c.2597A>G (p.Lys866Arg) c.2147A>G (p.Lys716Arg) c.1355A>G (p.Lys452Arg) | |
| 8 | g.60841720A>T | CA371318733 | CHD7 | c.4610A>T (p.Lys1537Met) c.1717-20509A>T (n.1717-20509A>T) c.2597A>T (p.Lys866Met) c.2147A>T (p.Lys716Met) c.1355A>T (p.Lys452Met) | |
| 8 | g.60841721G>A | CA460848064 | CHD7 | c.4611G>A (p.Lys1537=) c.1717-20508G>A (n.1717-20508G>A) c.2598G>A (p.Lys866=) c.2148G>A (p.Lys716=) c.1356G>A (p.Lys452=) | |
| 8 | g.60841721G>C | CA371318735 | CHD7 | c.4611G>C (p.Lys1537Asn) c.1717-20508G>C (n.1717-20508G>C) c.2598G>C (p.Lys866Asn) c.2148G>C (p.Lys716Asn) c.1356G>C (p.Lys452Asn) | |
| 8 | g.60841721G>T | CA371318737 | CHD7 | c.4611G>T (p.Lys1537Asn) c.1717-20508G>T (n.1717-20508G>T) c.2598G>T (p.Lys866Asn) c.2148G>T (p.Lys716Asn) c.1356G>T (p.Lys452Asn) |