| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852570A>C | CA371323814 | CHD7 | c.5967A>C (p.Lys1989Asn) c.1717-9659A>C (n.1717-9659A>C) n.458A>C c.6057A>C (p.Lys2019Asn) c.4044A>C (p.Lys1348Asn) c.3594A>C (p.Lys1198Asn) c.2802A>C (p.Lys934Asn) | |
| 8 | g.60852570A>G | CA461105002 | CHD7 | c.5967A>G (p.Lys1989=) c.1717-9659A>G (n.1717-9659A>G) n.458A>G c.6057A>G (p.Lys2019=) c.4044A>G (p.Lys1348=) c.3594A>G (p.Lys1198=) c.2802A>G (p.Lys934=) | |
| 8 | g.60852570A>T | CA371323815 | CHD7 | c.5967A>T (p.Lys1989Asn) c.1717-9659A>T (n.1717-9659A>T) n.458A>T c.6057A>T (p.Lys2019Asn) c.4044A>T (p.Lys1348Asn) c.3594A>T (p.Lys1198Asn) c.2802A>T (p.Lys934Asn) | gnomAD v4 |
| 8 | g.60852571C>A | CA371323816 | CHD7 | c.5968C>A (p.Gln1990Lys) c.1717-9658C>A (n.1717-9658C>A) n.459C>A c.6058C>A (p.Gln2020Lys) c.4045C>A (p.Gln1349Lys) c.3595C>A (p.Gln1199Lys) c.2803C>A (p.Gln935Lys) | |
| 8 | g.60852571C= | CA1788101310 | CHD7 | c.5968C= (p.Gln1990=) c.1717-9658C= (n.1717-9658C=) n.459C= c.6058C= (p.Gln2020=) c.4045C= (p.Gln1349=) c.3595C= (p.Gln1199=) c.2803C= (p.Gln935=) | |
| 8 | g.60852571C>G | CA371323817 | CHD7 | c.5968C>G (p.Gln1990Glu) c.1717-9658C>G (n.1717-9658C>G) n.459C>G c.6058C>G (p.Gln2020Glu) c.4045C>G (p.Gln1349Glu) c.3595C>G (p.Gln1199Glu) c.2803C>G (p.Gln935Glu) | |
| 8 | g.60852571C>T | CA371323818 | CHD7 | c.5968C>T (p.Gln1990Ter) c.1717-9658C>T (n.1717-9658C>T) n.459C>T c.6058C>T (p.Gln2020Ter) c.4045C>T (p.Gln1349Ter) c.3595C>T (p.Gln1199Ter) c.2803C>T (p.Gln935Ter) | ClinVar dbSNP |
| 8 | g.60852572A>C | CA371323819 | CHD7 | c.5969A>C (p.Gln1990Pro) c.1717-9657A>C (n.1717-9657A>C) n.460A>C c.6059A>C (p.Gln2020Pro) c.4046A>C (p.Gln1349Pro) c.3596A>C (p.Gln1199Pro) c.2804A>C (p.Gln935Pro) | |
| 8 | g.60852572A>G | CA371323820 | CHD7 | c.5969A>G (p.Gln1990Arg) c.1717-9657A>G (n.1717-9657A>G) n.460A>G c.6059A>G (p.Gln2020Arg) c.4046A>G (p.Gln1349Arg) c.3596A>G (p.Gln1199Arg) c.2804A>G (p.Gln935Arg) | |
| 8 | g.60852572A>T | CA371323821 | CHD7 | c.5969A>T (p.Gln1990Leu) c.1717-9657A>T (n.1717-9657A>T) n.460A>T c.6059A>T (p.Gln2020Leu) c.4046A>T (p.Gln1349Leu) c.3596A>T (p.Gln1199Leu) c.2804A>T (p.Gln935Leu) | |
| 8 | g.60852573G>A | CA4760501 | CHD7 | c.5970G>A (p.Gln1990=) c.1717-9656G>A (n.1717-9656G>A) n.461G>A c.6060G>A (p.Gln2020=) c.4047G>A (p.Gln1349=) c.3597G>A (p.Gln1199=) c.2805G>A (p.Gln935=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852573G>C | CA371323823 | CHD7 | c.5970G>C (p.Gln1990His) c.1717-9656G>C (n.1717-9656G>C) n.461G>C c.6060G>C (p.Gln2020His) c.4047G>C (p.Gln1349His) c.3597G>C (p.Gln1199His) c.2805G>C (p.Gln935His) | |
| 8 | g.60852573G= | CA1788101320 | CHD7 | c.5970G= (p.Gln1990=) c.1717-9656G= (n.1717-9656G=) n.461G= c.6060G= (p.Gln2020=) c.4047G= (p.Gln1349=) c.3597G= (p.Gln1199=) c.2805G= (p.Gln935=) | |
| 8 | g.60852573G>T | CA371323822 | CHD7 | c.5970G>T (p.Gln1990His) c.1717-9656G>T (n.1717-9656G>T) n.461G>T c.6060G>T (p.Gln2020His) c.4047G>T (p.Gln1349His) c.3597G>T (p.Gln1199His) c.2805G>T (p.Gln935His) | |
| 8 | g.60852574C>A | CA371323824 | CHD7 | c.5971C>A (p.Gln1991Lys) c.1717-9655C>A (n.1717-9655C>A) n.462C>A c.6061C>A (p.Gln2021Lys) c.4048C>A (p.Gln1350Lys) c.3598C>A (p.Gln1200Lys) c.2806C>A (p.Gln936Lys) | |
| 8 | g.60852574C= | CA1788101327 | CHD7 | c.5971C= (p.Gln1991=) c.1717-9655C= (n.1717-9655C=) n.462C= c.6061C= (p.Gln2021=) c.4048C= (p.Gln1350=) c.3598C= (p.Gln1200=) c.2806C= (p.Gln936=) | |
| 8 | g.60852574C>G | CA371323825 | CHD7 | c.5971C>G (p.Gln1991Glu) c.1717-9655C>G (n.1717-9655C>G) n.462C>G c.6061C>G (p.Gln2021Glu) c.4048C>G (p.Gln1350Glu) c.3598C>G (p.Gln1200Glu) c.2806C>G (p.Gln936Glu) | gnomAD v4 |
| 8 | g.60852574C>T | CA371323826 | CHD7 | c.5971C>T (p.Gln1991Ter) c.1717-9655C>T (n.1717-9655C>T) n.462C>T c.6061C>T (p.Gln2021Ter) c.4048C>T (p.Gln1350Ter) c.3598C>T (p.Gln1200Ter) c.2806C>T (p.Gln936Ter) | ClinVar dbSNP |
| 8 | g.60852575A>C | CA371323827 | CHD7 | c.5972A>C (p.Gln1991Pro) c.1717-9654A>C (n.1717-9654A>C) n.463A>C c.6062A>C (p.Gln2021Pro) c.4049A>C (p.Gln1350Pro) c.3599A>C (p.Gln1200Pro) c.2807A>C (p.Gln936Pro) | |
| 8 | g.60852575A>G | CA371323828 | CHD7 | c.5972A>G (p.Gln1991Arg) c.1717-9654A>G (n.1717-9654A>G) n.463A>G c.6062A>G (p.Gln2021Arg) c.4049A>G (p.Gln1350Arg) c.3599A>G (p.Gln1200Arg) c.2807A>G (p.Gln936Arg) | |
| 8 | g.60852575A>T | CA371323829 | CHD7 | c.5972A>T (p.Gln1991Leu) c.1717-9654A>T (n.1717-9654A>T) n.463A>T c.6062A>T (p.Gln2021Leu) c.4049A>T (p.Gln1350Leu) c.3599A>T (p.Gln1200Leu) c.2807A>T (p.Gln936Leu) | |
| 8 | g.60852576A= | CA1788101351 | CHD7 | c.5973A= (p.Gln1991=) c.1717-9653A= (n.1717-9653A=) n.464A= c.6063A= (p.Gln2021=) c.4050A= (p.Gln1350=) c.3600A= (p.Gln1200=) c.2808A= (p.Gln936=) | |
| 8 | g.60852576A>C | CA371323830 | CHD7 | c.5973A>C (p.Gln1991His) c.1717-9653A>C (n.1717-9653A>C) n.464A>C c.6063A>C (p.Gln2021His) c.4050A>C (p.Gln1350His) c.3600A>C (p.Gln1200His) c.2808A>C (p.Gln936His) | |
| 8 | g.60852576A>G | CA4760502 | CHD7 | c.5973A>G (p.Gln1991=) c.1717-9653A>G (n.1717-9653A>G) n.464A>G c.6063A>G (p.Gln2021=) c.4050A>G (p.Gln1350=) c.3600A>G (p.Gln1200=) c.2808A>G (p.Gln936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852576A>T | CA371323831 | CHD7 | c.5973A>T (p.Gln1991His) c.1717-9653A>T (n.1717-9653A>T) n.464A>T c.6063A>T (p.Gln2021His) c.4050A>T (p.Gln1350His) c.3600A>T (p.Gln1200His) c.2808A>T (p.Gln936His) | |
| 8 | g.60852577T>A | CA371323832 | CHD7 | c.5974T>A (p.Phe1992Ile) c.1717-9652T>A (n.1717-9652T>A) n.465T>A c.6064T>A (p.Phe2022Ile) c.4051T>A (p.Phe1351Ile) c.3601T>A (p.Phe1201Ile) c.2809T>A (p.Phe937Ile) | |
| 8 | g.60852577T>C | CA371323833 | CHD7 | c.5974T>C (p.Phe1992Leu) c.1717-9652T>C (n.1717-9652T>C) n.465T>C c.6064T>C (p.Phe2022Leu) c.4051T>C (p.Phe1351Leu) c.3601T>C (p.Phe1201Leu) c.2809T>C (p.Phe937Leu) | |
| 8 | g.60852577T>G | CA371323834 | CHD7 | c.5974T>G (p.Phe1992Val) c.1717-9652T>G (n.1717-9652T>G) n.465T>G c.6064T>G (p.Phe2022Val) c.4051T>G (p.Phe1351Val) c.3601T>G (p.Phe1201Val) c.2809T>G (p.Phe937Val) | |
| 8 | g.60852578T>A | CA371323835 | CHD7 | c.5975T>A (p.Phe1992Tyr) c.1717-9651T>A (n.1717-9651T>A) n.466T>A c.6065T>A (p.Phe2022Tyr) c.4052T>A (p.Phe1351Tyr) c.3602T>A (p.Phe1201Tyr) c.2810T>A (p.Phe937Tyr) | |
| 8 | g.60852578T>C | CA371323836 | CHD7 | c.5975T>C (p.Phe1992Ser) c.1717-9651T>C (n.1717-9651T>C) n.466T>C c.6065T>C (p.Phe2022Ser) c.4052T>C (p.Phe1351Ser) c.3602T>C (p.Phe1201Ser) c.2810T>C (p.Phe937Ser) | |
| 8 | g.60852578T>G | CA371323837 | CHD7 | c.5975T>G (p.Phe1992Cys) c.1717-9651T>G (n.1717-9651T>G) n.466T>G c.6065T>G (p.Phe2022Cys) c.4052T>G (p.Phe1351Cys) c.3602T>G (p.Phe1201Cys) c.2810T>G (p.Phe937Cys) | |
| 8 | g.60852579T>A | CA371323838 | CHD7 | c.5976T>A (p.Phe1992Leu) c.1717-9650T>A (n.1717-9650T>A) n.467T>A c.6066T>A (p.Phe2022Leu) c.4053T>A (p.Phe1351Leu) c.3603T>A (p.Phe1201Leu) c.2811T>A (p.Phe937Leu) | |
| 8 | g.60852579T>C | CA461105003 | CHD7 | c.5976T>C (p.Phe1992=) c.1717-9650T>C (n.1717-9650T>C) n.467T>C c.6066T>C (p.Phe2022=) c.4053T>C (p.Phe1351=) c.3603T>C (p.Phe1201=) c.2811T>C (p.Phe937=) | |
| 8 | g.60852579T>G | CA371323839 | CHD7 | c.5976T>G (p.Phe1992Leu) c.1717-9650T>G (n.1717-9650T>G) n.467T>G c.6066T>G (p.Phe2022Leu) c.4053T>G (p.Phe1351Leu) c.3603T>G (p.Phe1201Leu) c.2811T>G (p.Phe937Leu) | |
| 8 | g.60852581_60852584del | CA2695209396 | CHD7 | c.5978_5981del (p.Asp1993GlyfsTer?) c.1717-9648_1717-9645del (n.1717-9648_1717-9645del) n.469_472del c.6068_6071del (p.Asp2023GlyfsTer?) c.4055_4058del (p.Asp1352GlyfsTer?) c.3605_3608del (p.Asp1202GlyfsTer?) c.2813_2816del (p.Asp938GlyfsTer?) | |
| 8 | g.60852580G>A | CA371323840 | CHD7 | c.5977G>A (p.Asp1993Asn) c.1717-9649G>A (n.1717-9649G>A) n.468G>A c.6067G>A (p.Asp2023Asn) c.4054G>A (p.Asp1352Asn) c.3604G>A (p.Asp1202Asn) c.2812G>A (p.Asp938Asn) | dbSNP |
| 8 | g.60852580G>C | CA371323841 | CHD7 | c.5977G>C (p.Asp1993His) c.1717-9649G>C (n.1717-9649G>C) n.468G>C c.6067G>C (p.Asp2023His) c.4054G>C (p.Asp1352His) c.3604G>C (p.Asp1202His) c.2812G>C (p.Asp938His) | COSMIC |
| 8 | g.60852580G= | CA1788101367 | CHD7 | c.5977G= (p.Asp1993=) c.1717-9649G= (n.1717-9649G=) n.468G= c.6067G= (p.Asp2023=) c.4054G= (p.Asp1352=) c.3604G= (p.Asp1202=) c.2812G= (p.Asp938=) | |
| 8 | g.60852580G>T | CA4760503 | CHD7 | c.5977G>T (p.Asp1993Tyr) c.1717-9649G>T (n.1717-9649G>T) n.468G>T c.6067G>T (p.Asp2023Tyr) c.4054G>T (p.Asp1352Tyr) c.3604G>T (p.Asp1202Tyr) c.2812G>T (p.Asp938Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852581A= | CA1788101376 | CHD7 | c.5978A= (p.Asp1993=) c.1717-9648A= (n.1717-9648A=) n.469A= c.6068A= (p.Asp2023=) c.4055A= (p.Asp1352=) c.3605A= (p.Asp1202=) c.2813A= (p.Asp938=) | |
| 8 | g.60852581A>C | CA371323842 | CHD7 | c.5978A>C (p.Asp1993Ala) c.1717-9648A>C (n.1717-9648A>C) n.469A>C c.6068A>C (p.Asp2023Ala) c.4055A>C (p.Asp1352Ala) c.3605A>C (p.Asp1202Ala) c.2813A>C (p.Asp938Ala) | |
| 8 | g.60852581A>G | CA371323844 | CHD7 | c.5978A>G (p.Asp1993Gly) c.1717-9648A>G (n.1717-9648A>G) n.469A>G c.6068A>G (p.Asp2023Gly) c.4055A>G (p.Asp1352Gly) c.3605A>G (p.Asp1202Gly) c.2813A>G (p.Asp938Gly) | |
| 8 | g.60852581A>T | CA371323843 | CHD7 | c.5978A>T (p.Asp1993Val) c.1717-9648A>T (n.1717-9648A>T) n.469A>T c.6068A>T (p.Asp2023Val) c.4055A>T (p.Asp1352Val) c.3605A>T (p.Asp1202Val) c.2813A>T (p.Asp938Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852582C>A | CA371323845 | CHD7 | c.5979C>A (p.Asp1993Glu) c.1717-9647C>A (n.1717-9647C>A) n.470C>A c.6069C>A (p.Asp2023Glu) c.4056C>A (p.Asp1352Glu) c.3606C>A (p.Asp1202Glu) c.2814C>A (p.Asp938Glu) | |
| 8 | g.60852582C= | CA1788101383 | CHD7 | c.5979C= (p.Asp1993=) c.1717-9647C= (n.1717-9647C=) n.470C= c.6069C= (p.Asp2023=) c.4056C= (p.Asp1352=) c.3606C= (p.Asp1202=) c.2814C= (p.Asp938=) | |
| 8 | g.60852582C>G | CA371323846 | CHD7 | c.5979C>G (p.Asp1993Glu) c.1717-9647C>G (n.1717-9647C>G) n.470C>G c.6069C>G (p.Asp2023Glu) c.4056C>G (p.Asp1352Glu) c.3606C>G (p.Asp1202Glu) c.2814C>G (p.Asp938Glu) | ClinVar dbSNP |
| 8 | g.60852582C>T | CA461105004 | CHD7 | c.5979C>T (p.Asp1993=) c.1717-9647C>T (n.1717-9647C>T) n.470C>T c.6069C>T (p.Asp2023=) c.4056C>T (p.Asp1352=) c.3606C>T (p.Asp1202=) c.2814C>T (p.Asp938=) | |
| 8 | g.60852583T>A | CA371323847 | CHD7 | c.5980T>A (p.Trp1994Arg) c.1717-9646T>A (n.1717-9646T>A) n.471T>A c.6070T>A (p.Trp2024Arg) c.4057T>A (p.Trp1353Arg) c.3607T>A (p.Trp1203Arg) c.2815T>A (p.Trp939Arg) | |
| 8 | g.60852583T>C | CA371323848 | CHD7 | c.5980T>C (p.Trp1994Arg) c.1717-9646T>C (n.1717-9646T>C) n.471T>C c.6070T>C (p.Trp2024Arg) c.4057T>C (p.Trp1353Arg) c.3607T>C (p.Trp1203Arg) c.2815T>C (p.Trp939Arg) | |
| 8 | g.60852583T>G | CA371323849 | CHD7 | c.5980T>G (p.Trp1994Gly) c.1717-9646T>G (n.1717-9646T>G) n.471T>G c.6070T>G (p.Trp2024Gly) c.4057T>G (p.Trp1353Gly) c.3607T>G (p.Trp1203Gly) c.2815T>G (p.Trp939Gly) | |
| 8 | g.60852584G>A | CA371323850 | CHD7 | c.5981G>A (p.Trp1994Ter) c.1717-9645G>A (n.1717-9645G>A) n.472G>A c.6071G>A (p.Trp2024Ter) c.4058G>A (p.Trp1353Ter) c.3608G>A (p.Trp1203Ter) c.2816G>A (p.Trp939Ter) | |
| 8 | g.60852584G>C | CA371323851 | CHD7 | c.5981G>C (p.Trp1994Ser) c.1717-9645G>C (n.1717-9645G>C) n.472G>C c.6071G>C (p.Trp2024Ser) c.4058G>C (p.Trp1353Ser) c.3608G>C (p.Trp1203Ser) c.2816G>C (p.Trp939Ser) | |
| 8 | g.60852584G>T | CA371323852 | CHD7 | c.5981G>T (p.Trp1994Leu) c.1717-9645G>T (n.1717-9645G>T) n.472G>T c.6071G>T (p.Trp2024Leu) c.4058G>T (p.Trp1353Leu) c.3608G>T (p.Trp1203Leu) c.2816G>T (p.Trp939Leu) | |
| 8 | g.60852585G>A | CA371323853 | CHD7 | c.5982G>A (p.Trp1994Ter) c.1717-9644G>A (n.1717-9644G>A) n.473G>A c.6072G>A (p.Trp2024Ter) c.4059G>A (p.Trp1353Ter) c.3609G>A (p.Trp1203Ter) c.2817G>A (p.Trp939Ter) | |
| 8 | g.60852585G>C | CA371323854 | CHD7 | c.5982G>C (p.Trp1994Cys) c.1717-9644G>C (n.1717-9644G>C) n.473G>C c.6072G>C (p.Trp2024Cys) c.4059G>C (p.Trp1353Cys) c.3609G>C (p.Trp1203Cys) c.2817G>C (p.Trp939Cys) | |
| 8 | g.60852585G>T | CA371323855 | CHD7 | c.5982G>T (p.Trp1994Cys) c.1717-9644G>T (n.1717-9644G>T) n.473G>T c.6072G>T (p.Trp2024Cys) c.4059G>T (p.Trp1353Cys) c.3609G>T (p.Trp1203Cys) c.2817G>T (p.Trp939Cys) | |
| 8 | g.60852586A>C | CA371323858 | CHD7 | c.5983A>C (p.Asn1995His) c.1717-9643A>C (n.1717-9643A>C) n.474A>C c.6073A>C (p.Asn2025His) c.4060A>C (p.Asn1354His) c.3610A>C (p.Asn1204His) c.2818A>C (p.Asn940His) | |
| 8 | g.60852586A>G | CA371323857 | CHD7 | c.5983A>G (p.Asn1995Asp) c.1717-9643A>G (n.1717-9643A>G) n.474A>G c.6073A>G (p.Asn2025Asp) c.4060A>G (p.Asn1354Asp) c.3610A>G (p.Asn1204Asp) c.2818A>G (p.Asn940Asp) | |
| 8 | g.60852586A>T | CA371323856 | CHD7 | c.5983A>T (p.Asn1995Tyr) c.1717-9643A>T (n.1717-9643A>T) n.474A>T c.6073A>T (p.Asn2025Tyr) c.4060A>T (p.Asn1354Tyr) c.3610A>T (p.Asn1204Tyr) c.2818A>T (p.Asn940Tyr) | |
| 8 | g.60852587A>C | CA371323859 | CHD7 | c.5984A>C (p.Asn1995Thr) c.1717-9642A>C (n.1717-9642A>C) n.475A>C c.6074A>C (p.Asn2025Thr) c.4061A>C (p.Asn1354Thr) c.3611A>C (p.Asn1204Thr) c.2819A>C (p.Asn940Thr) | |
| 8 | g.60852587A>G | CA371323860 | CHD7 | c.5984A>G (p.Asn1995Ser) c.1717-9642A>G (n.1717-9642A>G) n.475A>G c.6074A>G (p.Asn2025Ser) c.4061A>G (p.Asn1354Ser) c.3611A>G (p.Asn1204Ser) c.2819A>G (p.Asn940Ser) | |
| 8 | g.60852587A>T | CA371323861 | CHD7 | c.5984A>T (p.Asn1995Ile) c.1717-9642A>T (n.1717-9642A>T) n.475A>T c.6074A>T (p.Asn2025Ile) c.4061A>T (p.Asn1354Ile) c.3611A>T (p.Asn1204Ile) c.2819A>T (p.Asn940Ile) | |
| 8 | g.60852588C>A | CA371323862 | CHD7 | c.5985C>A (p.Asn1995Lys) c.1717-9641C>A (n.1717-9641C>A) n.476C>A c.6075C>A (p.Asn2025Lys) c.4062C>A (p.Asn1354Lys) c.3612C>A (p.Asn1204Lys) c.2820C>A (p.Asn940Lys) | |
| 8 | g.60852588C= | CA1788101395 | CHD7 | c.5985C= (p.Asn1995=) c.1717-9641C= (n.1717-9641C=) n.476C= c.6075C= (p.Asn2025=) c.4062C= (p.Asn1354=) c.3612C= (p.Asn1204=) c.2820C= (p.Asn940=) | |
| 8 | g.60852588C>G | CA371323863 | CHD7 | c.5985C>G (p.Asn1995Lys) c.1717-9641C>G (n.1717-9641C>G) n.476C>G c.6075C>G (p.Asn2025Lys) c.4062C>G (p.Asn1354Lys) c.3612C>G (p.Asn1204Lys) c.2820C>G (p.Asn940Lys) | |
| 8 | g.60852588C>T | CA461105005 | CHD7 | c.5985C>T (p.Asn1995=) c.1717-9641C>T (n.1717-9641C>T) n.476C>T c.6075C>T (p.Asn2025=) c.4062C>T (p.Asn1354=) c.3612C>T (p.Asn1204=) c.2820C>T (p.Asn940=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852589C>A | CA371323864 | CHD7 | c.5986C>A (p.Gln1996Lys) c.1717-9640C>A (n.1717-9640C>A) n.477C>A c.6076C>A (p.Gln2026Lys) c.4063C>A (p.Gln1355Lys) c.3613C>A (p.Gln1205Lys) c.2821C>A (p.Gln941Lys) | |
| 8 | g.60852589C= | CA1788101398 | CHD7 | c.5986C= (p.Gln1996=) c.1717-9640C= (n.1717-9640C=) n.477C= c.6076C= (p.Gln2026=) c.4063C= (p.Gln1355=) c.3613C= (p.Gln1205=) c.2821C= (p.Gln941=) | |
| 8 | g.60852589C>G | CA4760504 | CHD7 | c.5986C>G (p.Gln1996Glu) c.1717-9640C>G (n.1717-9640C>G) n.477C>G c.6076C>G (p.Gln2026Glu) c.4063C>G (p.Gln1355Glu) c.3613C>G (p.Gln1205Glu) c.2821C>G (p.Gln941Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852589C>T | CA371323865 | CHD7 | c.5986C>T (p.Gln1996Ter) c.1717-9640C>T (n.1717-9640C>T) n.477C>T c.6076C>T (p.Gln2026Ter) c.4063C>T (p.Gln1355Ter) c.3613C>T (p.Gln1205Ter) c.2821C>T (p.Gln941Ter) | |
| 8 | g.60852590A>C | CA371323866 | CHD7 | c.5987A>C (p.Gln1996Pro) c.1717-9639A>C (n.1717-9639A>C) n.478A>C c.6077A>C (p.Gln2026Pro) c.4064A>C (p.Gln1355Pro) c.3614A>C (p.Gln1205Pro) c.2822A>C (p.Gln941Pro) | gnomAD v4 |
| 8 | g.60852590A>G | CA371323867 | CHD7 | c.5987A>G (p.Gln1996Arg) c.1717-9639A>G (n.1717-9639A>G) n.478A>G c.6077A>G (p.Gln2026Arg) c.4064A>G (p.Gln1355Arg) c.3614A>G (p.Gln1205Arg) c.2822A>G (p.Gln941Arg) | gnomAD v4 |
| 8 | g.60852590A>T | CA371323868 | CHD7 | c.5987A>T (p.Gln1996Leu) c.1717-9639A>T (n.1717-9639A>T) n.478A>T c.6077A>T (p.Gln2026Leu) c.4064A>T (p.Gln1355Leu) c.3614A>T (p.Gln1205Leu) c.2822A>T (p.Gln941Leu) | |
| 8 | g.60852591A>C | CA371323869 | CHD7 | c.5988A>C (p.Gln1996His) c.1717-9638A>C (n.1717-9638A>C) n.479A>C c.6078A>C (p.Gln2026His) c.4065A>C (p.Gln1355His) c.3615A>C (p.Gln1205His) c.2823A>C (p.Gln941His) | |
| 8 | g.60852591A>G | CA461105006 | CHD7 | c.5988A>G (p.Gln1996=) c.1717-9638A>G (n.1717-9638A>G) n.479A>G c.6078A>G (p.Gln2026=) c.4065A>G (p.Gln1355=) c.3615A>G (p.Gln1205=) c.2823A>G (p.Gln941=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852591A>T | CA371323870 | CHD7 | c.5988A>T (p.Gln1996His) c.1717-9638A>T (n.1717-9638A>T) n.479A>T c.6078A>T (p.Gln2026His) c.4065A>T (p.Gln1355His) c.3615A>T (p.Gln1205His) c.2823A>T (p.Gln941His) | |
| 8 | g.60852592T>A | CA371323873 | CHD7 | c.5989T>A (p.Phe1997Ile) c.1717-9637T>A (n.1717-9637T>A) n.480T>A c.6079T>A (p.Phe2027Ile) c.4066T>A (p.Phe1356Ile) c.3616T>A (p.Phe1206Ile) c.2824T>A (p.Phe942Ile) | |
| 8 | g.60852592T>C | CA371323872 | CHD7 | c.5989T>C (p.Phe1997Leu) c.1717-9637T>C (n.1717-9637T>C) n.480T>C c.6079T>C (p.Phe2027Leu) c.4066T>C (p.Phe1356Leu) c.3616T>C (p.Phe1206Leu) c.2824T>C (p.Phe942Leu) | dbSNP |
| 8 | g.60852592T>G | CA371323871 | CHD7 | c.5989T>G (p.Phe1997Val) c.1717-9637T>G (n.1717-9637T>G) n.480T>G c.6079T>G (p.Phe2027Val) c.4066T>G (p.Phe1356Val) c.3616T>G (p.Phe1206Val) c.2824T>G (p.Phe942Val) | |
| 8 | g.60852592T= | CA1788101406 | CHD7 | c.5989T= (p.Phe1997=) c.1717-9637T= (n.1717-9637T=) n.480T= c.6079T= (p.Phe2027=) c.4066T= (p.Phe1356=) c.3616T= (p.Phe1206=) c.2824T= (p.Phe942=) | |
| 8 | g.60852594del | CA2695209397 | CHD7 | c.5991del (p.Phe1997LeufsTer?) c.1717-9635del (n.1717-9635del) n.482del c.6081del (p.Phe2027LeufsTer?) c.4068del (p.Phe1356LeufsTer?) c.3618del (p.Phe1206LeufsTer?) c.2826del (p.Phe942LeufsTer?) | |
| 8 | g.60852593T>A | CA371323875 | CHD7 | c.5990T>A (p.Phe1997Tyr) c.1717-9636T>A (n.1717-9636T>A) n.481T>A c.6080T>A (p.Phe2027Tyr) c.4067T>A (p.Phe1356Tyr) c.3617T>A (p.Phe1206Tyr) c.2825T>A (p.Phe942Tyr) | |
| 8 | g.60852593T>C | CA371323874 | CHD7 | c.5990T>C (p.Phe1997Ser) c.1717-9636T>C (n.1717-9636T>C) n.481T>C c.6080T>C (p.Phe2027Ser) c.4067T>C (p.Phe1356Ser) c.3617T>C (p.Phe1206Ser) c.2825T>C (p.Phe942Ser) | |
| 8 | g.60852593T>G | CA371323876 | CHD7 | c.5990T>G (p.Phe1997Cys) c.1717-9636T>G (n.1717-9636T>G) n.481T>G c.6080T>G (p.Phe2027Cys) c.4067T>G (p.Phe1356Cys) c.3617T>G (p.Phe1206Cys) c.2825T>G (p.Phe942Cys) | |
| 8 | g.60852594T>A | CA371323877 | CHD7 | c.5991T>A (p.Phe1997Leu) c.1717-9635T>A (n.1717-9635T>A) n.482T>A c.6081T>A (p.Phe2027Leu) c.4068T>A (p.Phe1356Leu) c.3618T>A (p.Phe1206Leu) c.2826T>A (p.Phe942Leu) | |
| 8 | g.60852594T>C | CA461105007 | CHD7 | c.5991T>C (p.Phe1997=) c.1717-9635T>C (n.1717-9635T>C) n.482T>C c.6081T>C (p.Phe2027=) c.4068T>C (p.Phe1356=) c.3618T>C (p.Phe1206=) c.2826T>C (p.Phe942=) | |
| 8 | g.60852594T>G | CA371323878 | CHD7 | c.5991T>G (p.Phe1997Leu) c.1717-9635T>G (n.1717-9635T>G) n.482T>G c.6081T>G (p.Phe2027Leu) c.4068T>G (p.Phe1356Leu) c.3618T>G (p.Phe1206Leu) c.2826T>G (p.Phe942Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852594T= | CA1788101422 | CHD7 | c.5991T= (p.Phe1997=) c.1717-9635T= (n.1717-9635T=) n.482T= c.6081T= (p.Phe2027=) c.4068T= (p.Phe1356=) c.3618T= (p.Phe1206=) c.2826T= (p.Phe942=) | |
| 8 | g.60852595A>C | CA461105008 | CHD7 | c.5992A>C (p.Arg1998=) c.1717-9634A>C (n.1717-9634A>C) n.483A>C c.6082A>C (p.Arg2028=) c.4069A>C (p.Arg1357=) c.3619A>C (p.Arg1207=) c.2827A>C (p.Arg943=) | dbSNP |
| 8 | g.60852595A>G | CA371323879 | CHD7 | c.5992A>G (p.Arg1998Gly) c.1717-9634A>G (n.1717-9634A>G) n.483A>G c.6082A>G (p.Arg2028Gly) c.4069A>G (p.Arg1357Gly) c.3619A>G (p.Arg1207Gly) c.2827A>G (p.Arg943Gly) | |
| 8 | g.60852595A>T | CA371323880 | CHD7 | c.5992A>T (p.Arg1998Ter) c.1717-9634A>T (n.1717-9634A>T) n.483A>T c.6082A>T (p.Arg2028Ter) c.4069A>T (p.Arg1357Ter) c.3619A>T (p.Arg1207Ter) c.2827A>T (p.Arg943Ter) | |
| 8 | g.60852596G>A | CA371323881 | CHD7 | c.5993G>A (p.Arg1998Lys) c.1717-9633G>A (n.1717-9633G>A) n.484G>A c.6083G>A (p.Arg2028Lys) c.4070G>A (p.Arg1357Lys) c.3620G>A (p.Arg1207Lys) c.2828G>A (p.Arg943Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852596G>C | CA371323882 | CHD7 | c.5993G>C (p.Arg1998Thr) c.1717-9633G>C (n.1717-9633G>C) n.484G>C c.6083G>C (p.Arg2028Thr) c.4070G>C (p.Arg1357Thr) c.3620G>C (p.Arg1207Thr) c.2828G>C (p.Arg943Thr) | |
| 8 | g.60852596G= | CA1788101425 | CHD7 | c.5993G= (p.Arg1998=) c.1717-9633G= (n.1717-9633G=) n.484G= c.6083G= (p.Arg2028=) c.4070G= (p.Arg1357=) c.3620G= (p.Arg1207=) c.2828G= (p.Arg943=) | |
| 8 | g.60852596G>T | CA371323883 | CHD7 | c.5993G>T (p.Arg1998Ile) c.1717-9633G>T (n.1717-9633G>T) n.484G>T c.6083G>T (p.Arg2028Ile) c.4070G>T (p.Arg1357Ile) c.3620G>T (p.Arg1207Ile) c.2828G>T (p.Arg943Ile) | |
| 8 | g.60852597A>C | CA371323884 | CHD7 | c.5994A>C (p.Arg1998Ser) c.1717-9632A>C (n.1717-9632A>C) n.485A>C c.6084A>C (p.Arg2028Ser) c.4071A>C (p.Arg1357Ser) c.3621A>C (p.Arg1207Ser) c.2829A>C (p.Arg943Ser) | |
| 8 | g.60852597A>G | CA461105009 | CHD7 | c.5994A>G (p.Arg1998=) c.1717-9632A>G (n.1717-9632A>G) n.485A>G c.6084A>G (p.Arg2028=) c.4071A>G (p.Arg1357=) c.3621A>G (p.Arg1207=) c.2829A>G (p.Arg943=) | |
| 8 | g.60852597A>T | CA371323885 | CHD7 | c.5994A>T (p.Arg1998Ser) c.1717-9632A>T (n.1717-9632A>T) n.485A>T c.6084A>T (p.Arg2028Ser) c.4071A>T (p.Arg1357Ser) c.3621A>T (p.Arg1207Ser) c.2829A>T (p.Arg943Ser) | |
| 8 | g.60852598del | CA2573332550 | CHD7 | c.5995del (p.Ala1999ProfsTer?) c.1717-9631del (n.1717-9631del) n.486del c.6085del (p.Ala2029ProfsTer?) c.4072del (p.Ala1358ProfsTer?) c.3622del (p.Ala1208ProfsTer?) c.2830del (p.Ala944ProfsTer?) | |
| 8 | g.60852598G>A | CA16618674 | CHD7 | c.5995G>A (p.Ala1999Thr) c.1717-9631G>A (n.1717-9631G>A) n.486G>A c.6085G>A (p.Ala2029Thr) c.4072G>A (p.Ala1358Thr) c.3622G>A (p.Ala1208Thr) c.2830G>A (p.Ala944Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852598G>C | CA371323886 | CHD7 | c.5995G>C (p.Ala1999Pro) c.1717-9631G>C (n.1717-9631G>C) n.486G>C c.6085G>C (p.Ala2029Pro) c.4072G>C (p.Ala1358Pro) c.3622G>C (p.Ala1208Pro) c.2830G>C (p.Ala944Pro) | ClinVar dbSNP |
| 8 | g.60852598G= | CA1788101442 | CHD7 | c.5995G= (p.Ala1999=) c.1717-9631G= (n.1717-9631G=) n.486G= c.6085G= (p.Ala2029=) c.4072G= (p.Ala1358=) c.3622G= (p.Ala1208=) c.2830G= (p.Ala944=) | |
| 8 | g.60852598G>T | CA371323887 | CHD7 | c.5995G>T (p.Ala1999Ser) c.1717-9631G>T (n.1717-9631G>T) n.486G>T c.6085G>T (p.Ala2029Ser) c.4072G>T (p.Ala1358Ser) c.3622G>T (p.Ala1208Ser) c.2830G>T (p.Ala944Ser) | |
| 8 | g.60852599C>A | CA371323890 | CHD7 | c.5996C>A (p.Ala1999Asp) c.1717-9630C>A (n.1717-9630C>A) n.487C>A c.6086C>A (p.Ala2029Asp) c.4073C>A (p.Ala1358Asp) c.3623C>A (p.Ala1208Asp) c.2831C>A (p.Ala944Asp) | |
| 8 | g.60852599C>G | CA371323888 | CHD7 | c.5996C>G (p.Ala1999Gly) c.1717-9630C>G (n.1717-9630C>G) n.487C>G c.6086C>G (p.Ala2029Gly) c.4073C>G (p.Ala1358Gly) c.3623C>G (p.Ala1208Gly) c.2831C>G (p.Ala944Gly) | dbSNP |
| 8 | g.60852599C>T | CA371323889 | CHD7 | c.5996C>T (p.Ala1999Val) c.1717-9630C>T (n.1717-9630C>T) n.487C>T c.6086C>T (p.Ala2029Val) c.4073C>T (p.Ala1358Val) c.3623C>T (p.Ala1208Val) c.2831C>T (p.Ala944Val) | |
| 8 | g.60852600C>A | CA461105010 | CHD7 | c.5997C>A (p.Ala1999=) c.1717-9629C>A (n.1717-9629C>A) n.488C>A c.6087C>A (p.Ala2029=) c.4074C>A (p.Ala1358=) c.3624C>A (p.Ala1208=) c.2832C>A (p.Ala944=) | |
| 8 | g.60852600C>G | CA461105012 | CHD7 | c.5997C>G (p.Ala1999=) c.1717-9629C>G (n.1717-9629C>G) n.488C>G c.6087C>G (p.Ala2029=) c.4074C>G (p.Ala1358=) c.3624C>G (p.Ala1208=) c.2832C>G (p.Ala944=) | |
| 8 | g.60852600C>T | CA461105011 | CHD7 | c.5997C>T (p.Ala1999=) c.1717-9629C>T (n.1717-9629C>T) n.488C>T c.6087C>T (p.Ala2029=) c.4074C>T (p.Ala1358=) c.3624C>T (p.Ala1208=) c.2832C>T (p.Ala944=) | |
| 8 | g.60852600_60852617del | CA645546297 | CHD7 | c.5997_6014del (p.Phe2000_Lys2005del) c.1717-9629_1717-9612del (n.1717-9629_1717-9612del) n.488_505del c.6087_6104del (p.Phe2030_Lys2035del) c.4074_4091del (p.Phe1359_Lys1364del) c.3624_3641del (p.Phe1209_Lys1214del) c.2832_2849del (p.Phe945_Lys950del) | COSMIC |
| 8 | g.60852601T>A | CA371323891 | CHD7 | c.5998T>A (p.Phe2000Ile) c.1717-9628T>A (n.1717-9628T>A) n.489T>A c.6088T>A (p.Phe2030Ile) c.4075T>A (p.Phe1359Ile) c.3625T>A (p.Phe1209Ile) c.2833T>A (p.Phe945Ile) | |
| 8 | g.60852601T>C | CA371323892 | CHD7 | c.5998T>C (p.Phe2000Leu) c.1717-9628T>C (n.1717-9628T>C) n.489T>C c.6088T>C (p.Phe2030Leu) c.4075T>C (p.Phe1359Leu) c.3625T>C (p.Phe1209Leu) c.2833T>C (p.Phe945Leu) | gnomAD v4 |
| 8 | g.60852601T>G | CA371323893 | CHD7 | c.5998T>G (p.Phe2000Val) c.1717-9628T>G (n.1717-9628T>G) n.489T>G c.6088T>G (p.Phe2030Val) c.4075T>G (p.Phe1359Val) c.3625T>G (p.Phe1209Val) c.2833T>G (p.Phe945Val) | |
| 8 | g.60852602T>A | CA371323894 | CHD7 | c.5999T>A (p.Phe2000Tyr) c.1717-9627T>A (n.1717-9627T>A) n.490T>A c.6089T>A (p.Phe2030Tyr) c.4076T>A (p.Phe1359Tyr) c.3626T>A (p.Phe1209Tyr) c.2834T>A (p.Phe945Tyr) | |
| 8 | g.60852602T>C | CA371323895 | CHD7 | c.5999T>C (p.Phe2000Ser) c.1717-9627T>C (n.1717-9627T>C) n.490T>C c.6089T>C (p.Phe2030Ser) c.4076T>C (p.Phe1359Ser) c.3626T>C (p.Phe1209Ser) c.2834T>C (p.Phe945Ser) | |
| 8 | g.60852602T>G | CA371323896 | CHD7 | c.5999T>G (p.Phe2000Cys) c.1717-9627T>G (n.1717-9627T>G) n.490T>G c.6089T>G (p.Phe2030Cys) c.4076T>G (p.Phe1359Cys) c.3626T>G (p.Phe1209Cys) c.2834T>G (p.Phe945Cys) | |
| 8 | g.60852603T>A | CA371323897 | CHD7 | c.6000T>A (p.Phe2000Leu) c.1717-9626T>A (n.1717-9626T>A) n.491T>A c.6090T>A (p.Phe2030Leu) c.4077T>A (p.Phe1359Leu) c.3627T>A (p.Phe1209Leu) c.2835T>A (p.Phe945Leu) | |
| 8 | g.60852603T>C | CA461105013 | CHD7 | c.6000T>C (p.Phe2000=) c.1717-9626T>C (n.1717-9626T>C) n.491T>C c.6090T>C (p.Phe2030=) c.4077T>C (p.Phe1359=) c.3627T>C (p.Phe1209=) c.2835T>C (p.Phe945=) | |
| 8 | g.60852603T>G | CA371323898 | CHD7 | c.6000T>G (p.Phe2000Leu) c.1717-9626T>G (n.1717-9626T>G) n.491T>G c.6090T>G (p.Phe2030Leu) c.4077T>G (p.Phe1359Leu) c.3627T>G (p.Phe1209Leu) c.2835T>G (p.Phe945Leu) | |
| 8 | g.60852604G>A | CA371323899 | CHD7 | c.6001G>A (p.Ala2001Thr) c.1717-9625G>A (n.1717-9625G>A) n.492G>A c.6091G>A (p.Ala2031Thr) c.4078G>A (p.Ala1360Thr) c.3628G>A (p.Ala1210Thr) c.2836G>A (p.Ala946Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852604G>C | CA371323900 | CHD7 | c.6001G>C (p.Ala2001Pro) c.1717-9625G>C (n.1717-9625G>C) n.492G>C c.6091G>C (p.Ala2031Pro) c.4078G>C (p.Ala1360Pro) c.3628G>C (p.Ala1210Pro) c.2836G>C (p.Ala946Pro) | |
| 8 | g.60852604G= | CA1788101455 | CHD7 | c.6001G= (p.Ala2001=) c.1717-9625G= (n.1717-9625G=) n.492G= c.6091G= (p.Ala2031=) c.4078G= (p.Ala1360=) c.3628G= (p.Ala1210=) c.2836G= (p.Ala946=) | |
| 8 | g.60852604G>T | CA371323901 | CHD7 | c.6001G>T (p.Ala2001Ser) c.1717-9625G>T (n.1717-9625G>T) n.492G>T c.6091G>T (p.Ala2031Ser) c.4078G>T (p.Ala1360Ser) c.3628G>T (p.Ala1210Ser) c.2836G>T (p.Ala946Ser) | gnomAD v4 |
| 8 | g.60852605C>A | CA371323903 | CHD7 | c.6002C>A (p.Ala2001Asp) c.1717-9624C>A (n.1717-9624C>A) n.493C>A c.6092C>A (p.Ala2031Asp) c.4079C>A (p.Ala1360Asp) c.3629C>A (p.Ala1210Asp) c.2837C>A (p.Ala946Asp) | |
| 8 | g.60852605C>G | CA371323904 | CHD7 | c.6002C>G (p.Ala2001Gly) c.1717-9624C>G (n.1717-9624C>G) n.493C>G c.6092C>G (p.Ala2031Gly) c.4079C>G (p.Ala1360Gly) c.3629C>G (p.Ala1210Gly) c.2837C>G (p.Ala946Gly) | |
| 8 | g.60852605C>T | CA371323902 | CHD7 | c.6002C>T (p.Ala2001Val) c.1717-9624C>T (n.1717-9624C>T) n.493C>T c.6092C>T (p.Ala2031Val) c.4079C>T (p.Ala1360Val) c.3629C>T (p.Ala1210Val) c.2837C>T (p.Ala946Val) | |
| 8 | g.60852606C>A | CA461105014 | CHD7 | c.6003C>A (p.Ala2001=) c.1717-9623C>A (n.1717-9623C>A) n.494C>A c.6093C>A (p.Ala2031=) c.4080C>A (p.Ala1360=) c.3630C>A (p.Ala1210=) c.2838C>A (p.Ala946=) | |
| 8 | g.60852606C>G | CA461105015 | CHD7 | c.6003C>G (p.Ala2001=) c.1717-9623C>G (n.1717-9623C>G) n.494C>G c.6093C>G (p.Ala2031=) c.4080C>G (p.Ala1360=) c.3630C>G (p.Ala1210=) c.2838C>G (p.Ala946=) | gnomAD v4 |
| 8 | g.60852606C>T | CA461105016 | CHD7 | c.6003C>T (p.Ala2001=) c.1717-9623C>T (n.1717-9623C>T) n.494C>T c.6093C>T (p.Ala2031=) c.4080C>T (p.Ala1360=) c.3630C>T (p.Ala1210=) c.2838C>T (p.Ala946=) | gnomAD v4 |
| 8 | g.60852607A>C | CA461105017 | CHD7 | c.6004A>C (p.Arg2002=) c.1717-9622A>C (n.1717-9622A>C) n.495A>C c.6094A>C (p.Arg2032=) c.4081A>C (p.Arg1361=) c.3631A>C (p.Arg1211=) c.2839A>C (p.Arg947=) | |
| 8 | g.60852607A>G | CA371323905 | CHD7 | c.6004A>G (p.Arg2002Gly) c.1717-9622A>G (n.1717-9622A>G) n.495A>G c.6094A>G (p.Arg2032Gly) c.4081A>G (p.Arg1361Gly) c.3631A>G (p.Arg1211Gly) c.2839A>G (p.Arg947Gly) | |
| 8 | g.60852607A>T | CA371323906 | CHD7 | c.6004A>T (p.Arg2002Trp) c.1717-9622A>T (n.1717-9622A>T) n.495A>T c.6094A>T (p.Arg2032Trp) c.4081A>T (p.Arg1361Trp) c.3631A>T (p.Arg1211Trp) c.2839A>T (p.Arg947Trp) | |
| 8 | g.60852608G>A | CA371323907 | CHD7 | c.6005G>A (p.Arg2002Lys) c.1717-9621G>A (n.1717-9621G>A) n.496G>A c.6095G>A (p.Arg2032Lys) c.4082G>A (p.Arg1361Lys) c.3632G>A (p.Arg1211Lys) c.2840G>A (p.Arg947Lys) | dbSNP gnomAD v2 |
| 8 | g.60852608G>C | CA371323908 | CHD7 | c.6005G>C (p.Arg2002Thr) c.1717-9621G>C (n.1717-9621G>C) n.496G>C c.6095G>C (p.Arg2032Thr) c.4082G>C (p.Arg1361Thr) c.3632G>C (p.Arg1211Thr) c.2840G>C (p.Arg947Thr) | |
| 8 | g.60852608G= | CA1788101459 | CHD7 | c.6005G= (p.Arg2002=) c.1717-9621G= (n.1717-9621G=) n.496G= c.6095G= (p.Arg2032=) c.4082G= (p.Arg1361=) c.3632G= (p.Arg1211=) c.2840G= (p.Arg947=) | |
| 8 | g.60852608G>T | CA371323909 | CHD7 | c.6005G>T (p.Arg2002Met) c.1717-9621G>T (n.1717-9621G>T) n.496G>T c.6095G>T (p.Arg2032Met) c.4082G>T (p.Arg1361Met) c.3632G>T (p.Arg1211Met) c.2840G>T (p.Arg947Met) | |
| 8 | g.60852608_60852609insTATAAGAAGTTTATGCTGTAAA | CA2780535780 | CHD7 | c.6005_6006insTATAAGAAGTTTATGCTGTAAA (p.Arg2002SerfsTer10) c.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA (n.1717-9621_1717-9620insTATAAGAAGTTTATGCTGTAAA) n.496_497insTATAAGAAGTTTATGCTGTAAA c.6095_6096insTATAAGAAGTTTATGCTGTAAA (p.Arg2032SerfsTer10) c.4082_4083insTATAAGAAGTTTATGCTGTAAA (p.Arg1361SerfsTer10) c.3632_3633insTATAAGAAGTTTATGCTGTAAA (p.Arg1211SerfsTer10) c.2840_2841insTATAAGAAGTTTATGCTGTAAA (p.Arg947SerfsTer10) | |
| 8 | g.60852609G>A | CA461105018 | CHD7 | c.6006G>A (p.Arg2002=) c.1717-9620G>A (n.1717-9620G>A) n.497G>A c.6096G>A (p.Arg2032=) c.4083G>A (p.Arg1361=) c.3633G>A (p.Arg1211=) c.2841G>A (p.Arg947=) | |
| 8 | g.60852609G>C | CA371323910 | CHD7 | c.6006G>C (p.Arg2002Ser) c.1717-9620G>C (n.1717-9620G>C) n.497G>C c.6096G>C (p.Arg2032Ser) c.4083G>C (p.Arg1361Ser) c.3633G>C (p.Arg1211Ser) c.2841G>C (p.Arg947Ser) | |
| 8 | g.60852609G>T | CA371323911 | CHD7 | c.6006G>T (p.Arg2002Ser) c.1717-9620G>T (n.1717-9620G>T) n.497G>T c.6096G>T (p.Arg2032Ser) c.4083G>T (p.Arg1361Ser) c.3633G>T (p.Arg1211Ser) c.2841G>T (p.Arg947Ser) | gnomAD v4 |
| 8 | g.60852610C>A | CA371323912 | CHD7 | c.6007C>A (p.Leu2003Ile) c.1717-9619C>A (n.1717-9619C>A) n.498C>A c.6097C>A (p.Leu2033Ile) c.4084C>A (p.Leu1362Ile) c.3634C>A (p.Leu1212Ile) c.2842C>A (p.Leu948Ile) | dbSNP |
| 8 | g.60852610C= | CA1788101464 | CHD7 | c.6007C= (p.Leu2003=) c.1717-9619C= (n.1717-9619C=) n.498C= c.6097C= (p.Leu2033=) c.4084C= (p.Leu1362=) c.3634C= (p.Leu1212=) c.2842C= (p.Leu948=) | |
| 8 | g.60852610C>G | CA371323913 | CHD7 | c.6007C>G (p.Leu2003Val) c.1717-9619C>G (n.1717-9619C>G) n.498C>G c.6097C>G (p.Leu2033Val) c.4084C>G (p.Leu1362Val) c.3634C>G (p.Leu1212Val) c.2842C>G (p.Leu948Val) | gnomAD v4 |
| 8 | g.60852610C>T | CA4760505 | CHD7 | c.6007C>T (p.Leu2003Phe) c.1717-9619C>T (n.1717-9619C>T) n.498C>T c.6097C>T (p.Leu2033Phe) c.4084C>T (p.Leu1362Phe) c.3634C>T (p.Leu1212Phe) c.2842C>T (p.Leu948Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852611T>A | CA371323914 | CHD7 | c.6008T>A (p.Leu2003His) c.1717-9618T>A (n.1717-9618T>A) n.499T>A c.6098T>A (p.Leu2033His) c.4085T>A (p.Leu1362His) c.3635T>A (p.Leu1212His) c.2843T>A (p.Leu948His) | |
| 8 | g.60852611T>C | CA371323915 | CHD7 | c.6008T>C (p.Leu2003Pro) c.1717-9618T>C (n.1717-9618T>C) n.499T>C c.6098T>C (p.Leu2033Pro) c.4085T>C (p.Leu1362Pro) c.3635T>C (p.Leu1212Pro) c.2843T>C (p.Leu948Pro) | |
| 8 | g.60852611T>G | CA371323916 | CHD7 | c.6008T>G (p.Leu2003Arg) c.1717-9618T>G (n.1717-9618T>G) n.499T>G c.6098T>G (p.Leu2033Arg) c.4085T>G (p.Leu1362Arg) c.3635T>G (p.Leu1212Arg) c.2843T>G (p.Leu948Arg) | |
| 8 | g.60852612T>A | CA461105019 | CHD7 | c.6009T>A (p.Leu2003=) c.1717-9617T>A (n.1717-9617T>A) n.500T>A c.6099T>A (p.Leu2033=) c.4086T>A (p.Leu1362=) c.3636T>A (p.Leu1212=) c.2844T>A (p.Leu948=) | |
| 8 | g.60852612T>C | CA461105021 | CHD7 | c.6009T>C (p.Leu2003=) c.1717-9617T>C (n.1717-9617T>C) n.500T>C c.6099T>C (p.Leu2033=) c.4086T>C (p.Leu1362=) c.3636T>C (p.Leu1212=) c.2844T>C (p.Leu948=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852612T>G | CA461105020 | CHD7 | c.6009T>G (p.Leu2003=) c.1717-9617T>G (n.1717-9617T>G) n.500T>G c.6099T>G (p.Leu2033=) c.4086T>G (p.Leu1362=) c.3636T>G (p.Leu1212=) c.2844T>G (p.Leu948=) | |
| 8 | g.60852612T= | CA1788101474 | CHD7 | c.6009T= (p.Leu2003=) c.1717-9617T= (n.1717-9617T=) n.500T= c.6099T= (p.Leu2033=) c.4086T= (p.Leu1362=) c.3636T= (p.Leu1212=) c.2844T= (p.Leu948=) | |
| 8 | g.60852613G>A | CA371323919 | CHD7 | c.6010G>A (p.Asp2004Asn) c.1717-9616G>A (n.1717-9616G>A) n.501G>A c.6100G>A (p.Asp2034Asn) c.4087G>A (p.Asp1363Asn) c.3637G>A (p.Asp1213Asn) c.2845G>A (p.Asp949Asn) | |
| 8 | g.60852613G>C | CA371323918 | CHD7 | c.6010G>C (p.Asp2004His) c.1717-9616G>C (n.1717-9616G>C) n.501G>C c.6100G>C (p.Asp2034His) c.4087G>C (p.Asp1363His) c.3637G>C (p.Asp1213His) c.2845G>C (p.Asp949His) | |
| 8 | g.60852613G>T | CA371323917 | CHD7 | c.6010G>T (p.Asp2004Tyr) c.1717-9616G>T (n.1717-9616G>T) n.501G>T c.6100G>T (p.Asp2034Tyr) c.4087G>T (p.Asp1363Tyr) c.3637G>T (p.Asp1213Tyr) c.2845G>T (p.Asp949Tyr) | |
| 8 | g.60852614A>C | CA371323920 | CHD7 | c.6011A>C (p.Asp2004Ala) c.1717-9615A>C (n.1717-9615A>C) n.502A>C c.6101A>C (p.Asp2034Ala) c.4088A>C (p.Asp1363Ala) c.3638A>C (p.Asp1213Ala) c.2846A>C (p.Asp949Ala) | |
| 8 | g.60852614A>G | CA371323921 | CHD7 | c.6011A>G (p.Asp2004Gly) c.1717-9615A>G (n.1717-9615A>G) n.502A>G c.6101A>G (p.Asp2034Gly) c.4088A>G (p.Asp1363Gly) c.3638A>G (p.Asp1213Gly) c.2846A>G (p.Asp949Gly) | |
| 8 | g.60852614A>T | CA371323922 | CHD7 | c.6011A>T (p.Asp2004Val) c.1717-9615A>T (n.1717-9615A>T) n.502A>T c.6101A>T (p.Asp2034Val) c.4088A>T (p.Asp1363Val) c.3638A>T (p.Asp1213Val) c.2846A>T (p.Asp949Val) | |
| 8 | g.60852615C>A | CA371323923 | CHD7 | c.6012C>A (p.Asp2004Glu) c.1717-9614C>A (n.1717-9614C>A) n.503C>A c.6102C>A (p.Asp2034Glu) c.4089C>A (p.Asp1363Glu) c.3639C>A (p.Asp1213Glu) c.2847C>A (p.Asp949Glu) | |
| 8 | g.60852615C= | CA1788101504 | CHD7 | c.6012C= (p.Asp2004=) c.1717-9614C= (n.1717-9614C=) n.503C= c.6102C= (p.Asp2034=) c.4089C= (p.Asp1363=) c.3639C= (p.Asp1213=) c.2847C= (p.Asp949=) | |
| 8 | g.60852615C>G | CA371323924 | CHD7 | c.6012C>G (p.Asp2004Glu) c.1717-9614C>G (n.1717-9614C>G) n.503C>G c.6102C>G (p.Asp2034Glu) c.4089C>G (p.Asp1363Glu) c.3639C>G (p.Asp1213Glu) c.2847C>G (p.Asp949Glu) | |
| 8 | g.60852615C>T | CA461105022 | CHD7 | c.6012C>T (p.Asp2004=) c.1717-9614C>T (n.1717-9614C>T) n.503C>T c.6102C>T (p.Asp2034=) c.4089C>T (p.Asp1363=) c.3639C>T (p.Asp1213=) c.2847C>T (p.Asp949=) | gnomAD v4 |
| 8 | g.60852616A>C | CA371323925 | CHD7 | c.6013A>C (p.Lys2005Gln) c.1717-9613A>C (n.1717-9613A>C) n.504A>C c.6103A>C (p.Lys2035Gln) c.4090A>C (p.Lys1364Gln) c.3640A>C (p.Lys1214Gln) c.2848A>C (p.Lys950Gln) | |
| 8 | g.60852616A>G | CA371323926 | CHD7 | c.6013A>G (p.Lys2005Glu) c.1717-9613A>G (n.1717-9613A>G) n.504A>G c.6103A>G (p.Lys2035Glu) c.4090A>G (p.Lys1364Glu) c.3640A>G (p.Lys1214Glu) c.2848A>G (p.Lys950Glu) | |
| 8 | g.60852616A>T | CA371323927 | CHD7 | c.6013A>T (p.Lys2005Ter) c.1717-9613A>T (n.1717-9613A>T) n.504A>T c.6103A>T (p.Lys2035Ter) c.4090A>T (p.Lys1364Ter) c.3640A>T (p.Lys1214Ter) c.2848A>T (p.Lys950Ter) | |
| 8 | g.60852621dup | CA915945703 | CHD7 | c.6018dup (p.Ser2007IlefsTer2) c.1717-9608dup (n.1717-9608dup) n.509dup c.6108dup (p.Ser2037IlefsTer2) c.4095dup (p.Ser1366IlefsTer2) c.3645dup (p.Ser1216IlefsTer2) c.2853dup (p.Ser952IlefsTer2) | ClinVar dbSNP |
| 8 | g.60852621del | CA2580078848 | CHD7 | c.6018del (p.Lys2006AsnfsTer?) c.1717-9608del (n.1717-9608del) n.509del c.6108del (p.Lys2036AsnfsTer?) c.4095del (p.Lys1365AsnfsTer?) c.3645del (p.Lys1215AsnfsTer?) c.2853del (p.Lys951AsnfsTer?) | ClinVar |
| 8 | g.60852618_60852621del | CA2695209398 | CHD7 | c.6015_6018del (p.Lys2005AsnfsTer?) c.1717-9611_1717-9608del (n.1717-9611_1717-9608del) n.506_509del c.6105_6108del (p.Lys2035AsnfsTer?) c.4092_4095del (p.Lys1364AsnfsTer?) c.3642_3645del (p.Lys1214AsnfsTer?) c.2850_2853del (p.Lys950AsnfsTer?) | |
| 8 | g.60852617A>C | CA371323928 | CHD7 | c.6014A>C (p.Lys2005Thr) c.1717-9612A>C (n.1717-9612A>C) n.505A>C c.6104A>C (p.Lys2035Thr) c.4091A>C (p.Lys1364Thr) c.3641A>C (p.Lys1214Thr) c.2849A>C (p.Lys950Thr) | |
| 8 | g.60852617A>G | CA371323929 | CHD7 | c.6014A>G (p.Lys2005Arg) c.1717-9612A>G (n.1717-9612A>G) n.505A>G c.6104A>G (p.Lys2035Arg) c.4091A>G (p.Lys1364Arg) c.3641A>G (p.Lys1214Arg) c.2849A>G (p.Lys950Arg) | |
| 8 | g.60852617A>T | CA371323930 | CHD7 | c.6014A>T (p.Lys2005Ile) c.1717-9612A>T (n.1717-9612A>T) n.505A>T c.6104A>T (p.Lys2035Ile) c.4091A>T (p.Lys1364Ile) c.3641A>T (p.Lys1214Ile) c.2849A>T (p.Lys950Ile) | |
| 8 | g.60852618A>C | CA371323931 | CHD7 | c.6015A>C (p.Lys2005Asn) c.1717-9611A>C (n.1717-9611A>C) n.506A>C c.6105A>C (p.Lys2035Asn) c.4092A>C (p.Lys1364Asn) c.3642A>C (p.Lys1214Asn) c.2850A>C (p.Lys950Asn) | |
| 8 | g.60852618A>G | CA461105023 | CHD7 | c.6015A>G (p.Lys2005=) c.1717-9611A>G (n.1717-9611A>G) n.506A>G c.6105A>G (p.Lys2035=) c.4092A>G (p.Lys1364=) c.3642A>G (p.Lys1214=) c.2850A>G (p.Lys950=) | |
| 8 | g.60852618A>T | CA371323932 | CHD7 | c.6015A>T (p.Lys2005Asn) c.1717-9611A>T (n.1717-9611A>T) n.506A>T c.6105A>T (p.Lys2035Asn) c.4092A>T (p.Lys1364Asn) c.3642A>T (p.Lys1214Asn) c.2850A>T (p.Lys950Asn) | |
| 8 | g.60852619A>C | CA371323934 | CHD7 | c.6016A>C (p.Lys2006Gln) c.1717-9610A>C (n.1717-9610A>C) n.507A>C c.6106A>C (p.Lys2036Gln) c.4093A>C (p.Lys1365Gln) c.3643A>C (p.Lys1215Gln) c.2851A>C (p.Lys951Gln) | |
| 8 | g.60852619A>G | CA371323935 | CHD7 | c.6016A>G (p.Lys2006Glu) c.1717-9610A>G (n.1717-9610A>G) n.507A>G c.6106A>G (p.Lys2036Glu) c.4093A>G (p.Lys1365Glu) c.3643A>G (p.Lys1215Glu) c.2851A>G (p.Lys951Glu) | |
| 8 | g.60852619A>T | CA371323933 | CHD7 | c.6016A>T (p.Lys2006Ter) c.1717-9610A>T (n.1717-9610A>T) n.507A>T c.6106A>T (p.Lys2036Ter) c.4093A>T (p.Lys1365Ter) c.3643A>T (p.Lys1215Ter) c.2851A>T (p.Lys951Ter) | |
| 8 | g.60852620A>C | CA371323936 | CHD7 | c.6017A>C (p.Lys2006Thr) c.1717-9609A>C (n.1717-9609A>C) n.508A>C c.6107A>C (p.Lys2036Thr) c.4094A>C (p.Lys1365Thr) c.3644A>C (p.Lys1215Thr) c.2852A>C (p.Lys951Thr) | |
| 8 | g.60852620A>G | CA371323938 | CHD7 | c.6017A>G (p.Lys2006Arg) c.1717-9609A>G (n.1717-9609A>G) n.508A>G c.6107A>G (p.Lys2036Arg) c.4094A>G (p.Lys1365Arg) c.3644A>G (p.Lys1215Arg) c.2852A>G (p.Lys951Arg) | gnomAD v4 |
| 8 | g.60852620A>T | CA371323937 | CHD7 | c.6017A>T (p.Lys2006Ile) c.1717-9609A>T (n.1717-9609A>T) n.508A>T c.6107A>T (p.Lys2036Ile) c.4094A>T (p.Lys1365Ile) c.3644A>T (p.Lys1215Ile) c.2852A>T (p.Lys951Ile) | |
| 8 | g.60852621A= | CA1788101514 | CHD7 | c.6018A= (p.Lys2006=) c.1717-9608A= (n.1717-9608A=) n.509A= c.6108A= (p.Lys2036=) c.4095A= (p.Lys1365=) c.3645A= (p.Lys1215=) c.2853A= (p.Lys951=) | |
| 8 | g.60852621A>C | CA371323939 | CHD7 | c.6018A>C (p.Lys2006Asn) c.1717-9608A>C (n.1717-9608A>C) n.509A>C c.6108A>C (p.Lys2036Asn) c.4095A>C (p.Lys1365Asn) c.3645A>C (p.Lys1215Asn) c.2853A>C (p.Lys951Asn) | |
| 8 | g.60852621A>G | CA4760506 | CHD7 | c.6018A>G (p.Lys2006=) c.1717-9608A>G (n.1717-9608A>G) n.509A>G c.6108A>G (p.Lys2036=) c.4095A>G (p.Lys1365=) c.3645A>G (p.Lys1215=) c.2853A>G (p.Lys951=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852621A>T | CA371323940 | CHD7 | c.6018A>T (p.Lys2006Asn) c.1717-9608A>T (n.1717-9608A>T) n.509A>T c.6108A>T (p.Lys2036Asn) c.4095A>T (p.Lys1365Asn) c.3645A>T (p.Lys1215Asn) c.2853A>T (p.Lys951Asn) | |
| 8 | g.60852621_60852622insG | CA2695209399 | CHD7 | c.6018_6019insG (p.Ser2007ValfsTer2) c.1717-9608_1717-9607insG (n.1717-9608_1717-9607insG) n.509_510insG c.6108_6109insG (p.Ser2037ValfsTer2) c.4095_4096insG (p.Ser1366ValfsTer2) c.3645_3646insG (p.Ser1216ValfsTer2) c.2853_2854insG (p.Ser952ValfsTer2) | |
| 8 | g.60852622T>A | CA371323941 | CHD7 | c.6019T>A (p.Ser2007Thr) c.1717-9607T>A (n.1717-9607T>A) n.510T>A c.6109T>A (p.Ser2037Thr) c.4096T>A (p.Ser1366Thr) c.3646T>A (p.Ser1216Thr) c.2854T>A (p.Ser952Thr) | |
| 8 | g.60852622T>C | CA371323943 | CHD7 | c.6019T>C (p.Ser2007Pro) c.1717-9607T>C (n.1717-9607T>C) n.510T>C c.6109T>C (p.Ser2037Pro) c.4096T>C (p.Ser1366Pro) c.3646T>C (p.Ser1216Pro) c.2854T>C (p.Ser952Pro) | |
| 8 | g.60852622T>G | CA371323942 | CHD7 | c.6019T>G (p.Ser2007Ala) c.1717-9607T>G (n.1717-9607T>G) n.510T>G c.6109T>G (p.Ser2037Ala) c.4096T>G (p.Ser1366Ala) c.3646T>G (p.Ser1216Ala) c.2854T>G (p.Ser952Ala) | |
| 8 | g.60852623C>A | CA4760507 | CHD7 | c.6020C>A (p.Ser2007Tyr) c.1717-9606C>A (n.1717-9606C>A) n.511C>A c.6110C>A (p.Ser2037Tyr) c.4097C>A (p.Ser1366Tyr) c.3647C>A (p.Ser1216Tyr) c.2855C>A (p.Ser952Tyr) | dbSNP ExAC gnomAD v2 |
| 8 | g.60852623C= | CA1788101521 | CHD7 | c.6020C= (p.Ser2007=) c.1717-9606C= (n.1717-9606C=) n.511C= c.6110C= (p.Ser2037=) c.4097C= (p.Ser1366=) c.3647C= (p.Ser1216=) c.2855C= (p.Ser952=) | |
| 8 | g.60852623C>G | CA371323944 | CHD7 | c.6020C>G (p.Ser2007Cys) c.1717-9606C>G (n.1717-9606C>G) n.511C>G c.6110C>G (p.Ser2037Cys) c.4097C>G (p.Ser1366Cys) c.3647C>G (p.Ser1216Cys) c.2855C>G (p.Ser952Cys) | gnomAD v4 |
| 8 | g.60852623C>T | CA371323945 | CHD7 | c.6020C>T (p.Ser2007Phe) c.1717-9606C>T (n.1717-9606C>T) n.511C>T c.6110C>T (p.Ser2037Phe) c.4097C>T (p.Ser1366Phe) c.3647C>T (p.Ser1216Phe) c.2855C>T (p.Ser952Phe) | gnomAD v4 |
| 8 | g.60852624T>A | CA461105025 | CHD7 | c.6021T>A (p.Ser2007=) c.1717-9605T>A (n.1717-9605T>A) n.512T>A c.6111T>A (p.Ser2037=) c.4098T>A (p.Ser1366=) c.3648T>A (p.Ser1216=) c.2856T>A (p.Ser952=) | |
| 8 | g.60852624T>C | CA177353946 | CHD7 | c.6021T>C (p.Ser2007=) c.1717-9605T>C (n.1717-9605T>C) n.512T>C c.6111T>C (p.Ser2037=) c.4098T>C (p.Ser1366=) c.3648T>C (p.Ser1216=) c.2856T>C (p.Ser952=) | dbSNP gnomAD v4 |
| 8 | g.60852624T>G | CA461105024 | CHD7 | c.6021T>G (p.Ser2007=) c.1717-9605T>G (n.1717-9605T>G) n.512T>G c.6111T>G (p.Ser2037=) c.4098T>G (p.Ser1366=) c.3648T>G (p.Ser1216=) c.2856T>G (p.Ser952=) | |
| 8 | g.60852624T= | CA1788101523 | CHD7 | c.6021T= (p.Ser2007=) c.1717-9605T= (n.1717-9605T=) n.512T= c.6111T= (p.Ser2037=) c.4098T= (p.Ser1366=) c.3648T= (p.Ser1216=) c.2856T= (p.Ser952=) | |
| 8 | g.60852625G>A | CA371323946 | CHD7 | c.6022G>A (p.Asp2008Asn) c.1717-9604G>A (n.1717-9604G>A) n.513G>A c.6112G>A (p.Asp2038Asn) c.4099G>A (p.Asp1367Asn) c.3649G>A (p.Asp1217Asn) c.2857G>A (p.Asp953Asn) | |
| 8 | g.60852625G>C | CA371323947 | CHD7 | c.6022G>C (p.Asp2008His) c.1717-9604G>C (n.1717-9604G>C) n.513G>C c.6112G>C (p.Asp2038His) c.4099G>C (p.Asp1367His) c.3649G>C (p.Asp1217His) c.2857G>C (p.Asp953His) | COSMIC |
| 8 | g.60852625G>T | CA371323948 | CHD7 | c.6022G>T (p.Asp2008Tyr) c.1717-9604G>T (n.1717-9604G>T) n.513G>T c.6112G>T (p.Asp2038Tyr) c.4099G>T (p.Asp1367Tyr) c.3649G>T (p.Asp1217Tyr) c.2857G>T (p.Asp953Tyr) | |
| 8 | g.60852626A>C | CA371323949 | CHD7 | c.6023A>C (p.Asp2008Ala) c.1717-9603A>C (n.1717-9603A>C) n.514A>C c.6113A>C (p.Asp2038Ala) c.4100A>C (p.Asp1367Ala) c.3650A>C (p.Asp1217Ala) c.2858A>C (p.Asp953Ala) | |
| 8 | g.60852626A>G | CA371323950 | CHD7 | c.6023A>G (p.Asp2008Gly) c.1717-9603A>G (n.1717-9603A>G) n.514A>G c.6113A>G (p.Asp2038Gly) c.4100A>G (p.Asp1367Gly) c.3650A>G (p.Asp1217Gly) c.2858A>G (p.Asp953Gly) | |
| 8 | g.60852626A>T | CA371323951 | CHD7 | c.6023A>T (p.Asp2008Val) c.1717-9603A>T (n.1717-9603A>T) n.514A>T c.6113A>T (p.Asp2038Val) c.4100A>T (p.Asp1367Val) c.3650A>T (p.Asp1217Val) c.2858A>T (p.Asp953Val) | |
| 8 | g.60852627T>A | CA371323952 | CHD7 | c.6024T>A (p.Asp2008Glu) c.1717-9602T>A (n.1717-9602T>A) n.515T>A c.6114T>A (p.Asp2038Glu) c.4101T>A (p.Asp1367Glu) c.3651T>A (p.Asp1217Glu) c.2859T>A (p.Asp953Glu) | |
| 8 | g.60852627T>C | CA461105026 | CHD7 | c.6024T>C (p.Asp2008=) c.1717-9602T>C (n.1717-9602T>C) n.515T>C c.6114T>C (p.Asp2038=) c.4101T>C (p.Asp1367=) c.3651T>C (p.Asp1217=) c.2859T>C (p.Asp953=) | |
| 8 | g.60852627T>G | CA371323953 | CHD7 | c.6024T>G (p.Asp2008Glu) c.1717-9602T>G (n.1717-9602T>G) n.515T>G c.6114T>G (p.Asp2038Glu) c.4101T>G (p.Asp1367Glu) c.3651T>G (p.Asp1217Glu) c.2859T>G (p.Asp953Glu) | |
| 8 | g.60852628G>A | CA371323956 | CHD7 | c.6025G>A (p.Glu2009Lys) c.1717-9601G>A (n.1717-9601G>A) n.516G>A c.6115G>A (p.Glu2039Lys) c.4102G>A (p.Glu1368Lys) c.3652G>A (p.Glu1218Lys) c.2860G>A (p.Glu954Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852628G>C | CA371323954 | CHD7 | c.6025G>C (p.Glu2009Gln) c.1717-9601G>C (n.1717-9601G>C) n.516G>C c.6115G>C (p.Glu2039Gln) c.4102G>C (p.Glu1368Gln) c.3652G>C (p.Glu1218Gln) c.2860G>C (p.Glu954Gln) | |
| 8 | g.60852628G= | CA1788101528 | CHD7 | c.6025G= (p.Glu2009=) c.1717-9601G= (n.1717-9601G=) n.516G= c.6115G= (p.Glu2039=) c.4102G= (p.Glu1368=) c.3652G= (p.Glu1218=) c.2860G= (p.Glu954=) | |
| 8 | g.60852628G>T | CA371323955 | CHD7 | c.6025G>T (p.Glu2009Ter) c.1717-9601G>T (n.1717-9601G>T) n.516G>T c.6115G>T (p.Glu2039Ter) c.4102G>T (p.Glu1368Ter) c.3652G>T (p.Glu1218Ter) c.2860G>T (p.Glu954Ter) | |
| 8 | g.60852629A>C | CA371323957 | CHD7 | c.6026A>C (p.Glu2009Ala) c.1717-9600A>C (n.1717-9600A>C) n.517A>C c.6116A>C (p.Glu2039Ala) c.4103A>C (p.Glu1368Ala) c.3653A>C (p.Glu1218Ala) c.2861A>C (p.Glu954Ala) | ClinVar gnomAD v4 |
| 8 | g.60852629A>G | CA371323958 | CHD7 | c.6026A>G (p.Glu2009Gly) c.1717-9600A>G (n.1717-9600A>G) n.517A>G c.6116A>G (p.Glu2039Gly) c.4103A>G (p.Glu1368Gly) c.3653A>G (p.Glu1218Gly) c.2861A>G (p.Glu954Gly) | ClinVar |
| 8 | g.60852629A>T | CA371323959 | CHD7 | c.6026A>T (p.Glu2009Val) c.1717-9600A>T (n.1717-9600A>T) n.517A>T c.6116A>T (p.Glu2039Val) c.4103A>T (p.Glu1368Val) c.3653A>T (p.Glu1218Val) c.2861A>T (p.Glu954Val) | |
| 8 | g.60852630G>A | CA461105027 | CHD7 | c.6027G>A (p.Glu2009=) c.1717-9599G>A (n.1717-9599G>A) n.518G>A c.6117G>A (p.Glu2039=) c.4104G>A (p.Glu1368=) c.3654G>A (p.Glu1218=) c.2862G>A (p.Glu954=) | gnomAD v4 |
| 8 | g.60852630G>C | CA371323960 | CHD7 | c.6027G>C (p.Glu2009Asp) c.1717-9599G>C (n.1717-9599G>C) n.518G>C c.6117G>C (p.Glu2039Asp) c.4104G>C (p.Glu1368Asp) c.3654G>C (p.Glu1218Asp) c.2862G>C (p.Glu954Asp) | |
| 8 | g.60852630G>T | CA371323961 | CHD7 | c.6027G>T (p.Glu2009Asp) c.1717-9599G>T (n.1717-9599G>T) n.518G>T c.6117G>T (p.Glu2039Asp) c.4104G>T (p.Glu1368Asp) c.3654G>T (p.Glu1218Asp) c.2862G>T (p.Glu954Asp) | |
| 8 | g.60852631A= | CA1788101532 | CHD7 | c.6028A= (p.Ser2010=) c.1717-9598A= (n.1717-9598A=) n.519A= c.6118A= (p.Ser2040=) c.4105A= (p.Ser1369=) c.3655A= (p.Ser1219=) c.2863A= (p.Ser955=) | |
| 8 | g.60852631A>C | CA371323962 | CHD7 | c.6028A>C (p.Ser2010Arg) c.1717-9598A>C (n.1717-9598A>C) n.519A>C c.6118A>C (p.Ser2040Arg) c.4105A>C (p.Ser1369Arg) c.3655A>C (p.Ser1219Arg) c.2863A>C (p.Ser955Arg) | |
| 8 | g.60852631A>G | CA177353948 | CHD7 | c.6028A>G (p.Ser2010Gly) c.1717-9598A>G (n.1717-9598A>G) n.519A>G c.6118A>G (p.Ser2040Gly) c.4105A>G (p.Ser1369Gly) c.3655A>G (p.Ser1219Gly) c.2863A>G (p.Ser955Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852631A>T | CA371323963 | CHD7 | c.6028A>T (p.Ser2010Cys) c.1717-9598A>T (n.1717-9598A>T) n.519A>T c.6118A>T (p.Ser2040Cys) c.4105A>T (p.Ser1369Cys) c.3655A>T (p.Ser1219Cys) c.2863A>T (p.Ser955Cys) | |
| 8 | g.60852632G>A | CA371323964 | CHD7 | c.6029G>A (p.Ser2010Asn) c.1717-9597G>A (n.1717-9597G>A) n.520G>A c.6119G>A (p.Ser2040Asn) c.4106G>A (p.Ser1369Asn) c.3656G>A (p.Ser1219Asn) c.2864G>A (p.Ser955Asn) | gnomAD v4 |
| 8 | g.60852632G>C | CA371323965 | CHD7 | c.6029G>C (p.Ser2010Thr) c.1717-9597G>C (n.1717-9597G>C) n.520G>C c.6119G>C (p.Ser2040Thr) c.4106G>C (p.Ser1369Thr) c.3656G>C (p.Ser1219Thr) c.2864G>C (p.Ser955Thr) | |
| 8 | g.60852632G= | CA1788101537 | CHD7 | c.6029G= (p.Ser2010=) c.1717-9597G= (n.1717-9597G=) n.520G= c.6119G= (p.Ser2040=) c.4106G= (p.Ser1369=) c.3656G= (p.Ser1219=) c.2864G= (p.Ser955=) | |
| 8 | g.60852632G>T | CA4760508 | CHD7 | c.6029G>T (p.Ser2010Ile) c.1717-9597G>T (n.1717-9597G>T) n.520G>T c.6119G>T (p.Ser2040Ile) c.4106G>T (p.Ser1369Ile) c.3656G>T (p.Ser1219Ile) c.2864G>T (p.Ser955Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852633T>A | CA371323966 | CHD7 | c.6030T>A (p.Ser2010Arg) c.1717-9596T>A (n.1717-9596T>A) n.521T>A c.6120T>A (p.Ser2040Arg) c.4107T>A (p.Ser1369Arg) c.3657T>A (p.Ser1219Arg) c.2865T>A (p.Ser955Arg) | |
| 8 | g.60852633T>C | CA461105028 | CHD7 | c.6030T>C (p.Ser2010=) c.1717-9596T>C (n.1717-9596T>C) n.521T>C c.6120T>C (p.Ser2040=) c.4107T>C (p.Ser1369=) c.3657T>C (p.Ser1219=) c.2865T>C (p.Ser955=) | |
| 8 | g.60852633T>G | CA371323967 | CHD7 | c.6030T>G (p.Ser2010Arg) c.1717-9596T>G (n.1717-9596T>G) n.521T>G c.6120T>G (p.Ser2040Arg) c.4107T>G (p.Ser1369Arg) c.3657T>G (p.Ser1219Arg) c.2865T>G (p.Ser955Arg) | |
| 8 | g.60852634T>A | CA371323968 | CHD7 | c.6031T>A (p.Leu2011Met) c.1717-9595T>A (n.1717-9595T>A) n.522T>A c.6121T>A (p.Leu2041Met) c.4108T>A (p.Leu1370Met) c.3658T>A (p.Leu1220Met) c.2866T>A (p.Leu956Met) | |
| 8 | g.60852634T>C | CA461105029 | CHD7 | c.6031T>C (p.Leu2011=) c.1717-9595T>C (n.1717-9595T>C) n.522T>C c.6121T>C (p.Leu2041=) c.4108T>C (p.Leu1370=) c.3658T>C (p.Leu1220=) c.2866T>C (p.Leu956=) | |
| 8 | g.60852634T>G | CA371323969 | CHD7 | c.6031T>G (p.Leu2011Val) c.1717-9595T>G (n.1717-9595T>G) n.522T>G c.6121T>G (p.Leu2041Val) c.4108T>G (p.Leu1370Val) c.3658T>G (p.Leu1220Val) c.2866T>G (p.Leu956Val) | |
| 8 | g.60852635T>A | CA371323970 | CHD7 | c.6032T>A (p.Leu2011Ter) c.1717-9594T>A (n.1717-9594T>A) n.523T>A c.6122T>A (p.Leu2041Ter) c.4109T>A (p.Leu1370Ter) c.3659T>A (p.Leu1220Ter) c.2867T>A (p.Leu956Ter) | |
| 8 | g.60852635T>C | CA371323971 | CHD7 | c.6032T>C (p.Leu2011Ser) c.1717-9594T>C (n.1717-9594T>C) n.523T>C c.6122T>C (p.Leu2041Ser) c.4109T>C (p.Leu1370Ser) c.3659T>C (p.Leu1220Ser) c.2867T>C (p.Leu956Ser) | |
| 8 | g.60852635T>G | CA371323972 | CHD7 | c.6032T>G (p.Leu2011Trp) c.1717-9594T>G (n.1717-9594T>G) n.523T>G c.6122T>G (p.Leu2041Trp) c.4109T>G (p.Leu1370Trp) c.3659T>G (p.Leu1220Trp) c.2867T>G (p.Leu956Trp) | |
| 8 | g.60852636G>A | CA461105030 | CHD7 | c.6033G>A (p.Leu2011=) c.1717-9593G>A (n.1717-9593G>A) n.524G>A c.6123G>A (p.Leu2041=) c.4110G>A (p.Leu1370=) c.3660G>A (p.Leu1220=) c.2868G>A (p.Leu956=) | ClinVar dbSNP |
| 8 | g.60852636G>C | CA371323973 | CHD7 | c.6033G>C (p.Leu2011Phe) c.1717-9593G>C (n.1717-9593G>C) n.524G>C c.6123G>C (p.Leu2041Phe) c.4110G>C (p.Leu1370Phe) c.3660G>C (p.Leu1220Phe) c.2868G>C (p.Leu956Phe) | |
| 8 | g.60852636G= | CA1788101542 | CHD7 | c.6033G= (p.Leu2011=) c.1717-9593G= (n.1717-9593G=) n.524G= c.6123G= (p.Leu2041=) c.4110G= (p.Leu1370=) c.3660G= (p.Leu1220=) c.2868G= (p.Leu956=) | |
| 8 | g.60852636G>T | CA371323974 | CHD7 | c.6033G>T (p.Leu2011Phe) c.1717-9593G>T (n.1717-9593G>T) n.524G>T c.6123G>T (p.Leu2041Phe) c.4110G>T (p.Leu1370Phe) c.3660G>T (p.Leu1220Phe) c.2868G>T (p.Leu956Phe) | |
| 8 | g.60852637G>A | CA177353952 | CHD7 | c.6034G>A (p.Glu2012Lys) c.1717-9592G>A (n.1717-9592G>A) n.525G>A c.6124G>A (p.Glu2042Lys) c.4111G>A (p.Glu1371Lys) c.3661G>A (p.Glu1221Lys) c.2869G>A (p.Glu957Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852637G>C | CA371323975 | CHD7 | c.6034G>C (p.Glu2012Gln) c.1717-9592G>C (n.1717-9592G>C) n.525G>C c.6124G>C (p.Glu2042Gln) c.4111G>C (p.Glu1371Gln) c.3661G>C (p.Glu1221Gln) c.2869G>C (p.Glu957Gln) | |
| 8 | g.60852637G= | CA1788101550 | CHD7 | c.6034G= (p.Glu2012=) c.1717-9592G= (n.1717-9592G=) n.525G= c.6124G= (p.Glu2042=) c.4111G= (p.Glu1371=) c.3661G= (p.Glu1221=) c.2869G= (p.Glu957=) | |
| 8 | g.60852637G>T | CA371323976 | CHD7 | c.6034G>T (p.Glu2012Ter) c.1717-9592G>T (n.1717-9592G>T) n.525G>T c.6124G>T (p.Glu2042Ter) c.4111G>T (p.Glu1371Ter) c.3661G>T (p.Glu1221Ter) c.2869G>T (p.Glu957Ter) | |
| 8 | g.60852638A= | CA1788101559 | CHD7 | c.6035A= (p.Glu2012=) c.1717-9591A= (n.1717-9591A=) n.526A= c.6125A= (p.Glu2042=) c.4112A= (p.Glu1371=) c.3662A= (p.Glu1221=) c.2870A= (p.Glu957=) | |
| 8 | g.60852638A>C | CA371323977 | CHD7 | c.6035A>C (p.Glu2012Ala) c.1717-9591A>C (n.1717-9591A>C) n.526A>C c.6125A>C (p.Glu2042Ala) c.4112A>C (p.Glu1371Ala) c.3662A>C (p.Glu1221Ala) c.2870A>C (p.Glu957Ala) | |
| 8 | g.60852638A>G | CA371323978 | CHD7 | c.6035A>G (p.Glu2012Gly) c.1717-9591A>G (n.1717-9591A>G) n.526A>G c.6125A>G (p.Glu2042Gly) c.4112A>G (p.Glu1371Gly) c.3662A>G (p.Glu1221Gly) c.2870A>G (p.Glu957Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852638A>T | CA371323979 | CHD7 | c.6035A>T (p.Glu2012Val) c.1717-9591A>T (n.1717-9591A>T) n.526A>T c.6125A>T (p.Glu2042Val) c.4112A>T (p.Glu1371Val) c.3662A>T (p.Glu1221Val) c.2870A>T (p.Glu957Val) | ClinVar dbSNP |
| 8 | g.60852639G>A | CA461105031 | CHD7 | c.6036G>A (p.Glu2012=) c.1717-9590G>A (n.1717-9590G>A) n.527G>A c.6126G>A (p.Glu2042=) c.4113G>A (p.Glu1371=) c.3663G>A (p.Glu1221=) c.2871G>A (p.Glu957=) | |
| 8 | g.60852639G>C | CA371323980 | CHD7 | c.6036G>C (p.Glu2012Asp) c.1717-9590G>C (n.1717-9590G>C) n.527G>C c.6126G>C (p.Glu2042Asp) c.4113G>C (p.Glu1371Asp) c.3663G>C (p.Glu1221Asp) c.2871G>C (p.Glu957Asp) | |
| 8 | g.60852639G>T | CA371323981 | CHD7 | c.6036G>T (p.Glu2012Asp) c.1717-9590G>T (n.1717-9590G>T) n.527G>T c.6126G>T (p.Glu2042Asp) c.4113G>T (p.Glu1371Asp) c.3663G>T (p.Glu1221Asp) c.2871G>T (p.Glu957Asp) | |
| 8 | g.60852640A>C | CA371323982 | CHD7 | c.6037A>C (p.Lys2013Gln) c.1717-9589A>C (n.1717-9589A>C) c.6127A>C (p.Lys2043Gln) c.4114A>C (p.Lys1372Gln) c.3664A>C (p.Lys1222Gln) c.2872A>C (p.Lys958Gln) | |
| 8 | g.60852640A>G | CA371323983 | CHD7 | c.6037A>G (p.Lys2013Glu) c.1717-9589A>G (n.1717-9589A>G) c.6127A>G (p.Lys2043Glu) c.4114A>G (p.Lys1372Glu) c.3664A>G (p.Lys1222Glu) c.2872A>G (p.Lys958Glu) | |
| 8 | g.60852640A>T | CA371323984 | CHD7 | c.6037A>T (p.Lys2013Ter) c.1717-9589A>T (n.1717-9589A>T) c.6127A>T (p.Lys2043Ter) c.4114A>T (p.Lys1372Ter) c.3664A>T (p.Lys1222Ter) c.2872A>T (p.Lys958Ter) | |
| 8 | g.60852641A>C | CA371323985 | CHD7 | c.6038A>C (p.Lys2013Thr) c.1717-9588A>C (n.1717-9588A>C) c.6128A>C (p.Lys2043Thr) c.4115A>C (p.Lys1372Thr) c.3665A>C (p.Lys1222Thr) c.2873A>C (p.Lys958Thr) | COSMIC |
| 8 | g.60852641A>G | CA371323986 | CHD7 | c.6038A>G (p.Lys2013Arg) c.1717-9588A>G (n.1717-9588A>G) c.6128A>G (p.Lys2043Arg) c.4115A>G (p.Lys1372Arg) c.3665A>G (p.Lys1222Arg) c.2873A>G (p.Lys958Arg) | |
| 8 | g.60852641A>T | CA371323987 | CHD7 | c.6038A>T (p.Lys2013Ile) c.1717-9588A>T (n.1717-9588A>T) c.6128A>T (p.Lys2043Ile) c.4115A>T (p.Lys1372Ile) c.3665A>T (p.Lys1222Ile) c.2873A>T (p.Lys958Ile) | |
| 8 | g.60852642A>C | CA371323988 | CHD7 | c.6039A>C (p.Lys2013Asn) c.1717-9587A>C (n.1717-9587A>C) c.6129A>C (p.Lys2043Asn) c.4116A>C (p.Lys1372Asn) c.3666A>C (p.Lys1222Asn) c.2874A>C (p.Lys958Asn) | gnomAD v4 |
| 8 | g.60852642A>G | CA461105032 | CHD7 | c.6039A>G (p.Lys2013=) c.1717-9587A>G (n.1717-9587A>G) c.6129A>G (p.Lys2043=) c.4116A>G (p.Lys1372=) c.3666A>G (p.Lys1222=) c.2874A>G (p.Lys958=) | |
| 8 | g.60852642A>T | CA371323989 | CHD7 | c.6039A>T (p.Lys2013Asn) c.1717-9587A>T (n.1717-9587A>T) c.6129A>T (p.Lys2043Asn) c.4116A>T (p.Lys1372Asn) c.3666A>T (p.Lys1222Asn) c.2874A>T (p.Lys958Asn) | |
| 8 | g.60852643T>A | CA371323990 | CHD7 | c.6040T>A (p.Tyr2014Asn) c.1717-9586T>A (n.1717-9586T>A) c.6130T>A (p.Tyr2044Asn) c.4117T>A (p.Tyr1373Asn) c.3667T>A (p.Tyr1223Asn) c.2875T>A (p.Tyr959Asn) | |
| 8 | g.60852643T>C | CA371323991 | CHD7 | c.6040T>C (p.Tyr2014His) c.1717-9586T>C (n.1717-9586T>C) c.6130T>C (p.Tyr2044His) c.4117T>C (p.Tyr1373His) c.3667T>C (p.Tyr1223His) c.2875T>C (p.Tyr959His) | dbSNP |
| 8 | g.60852643T>G | CA371323992 | CHD7 | c.6040T>G (p.Tyr2014Asp) c.1717-9586T>G (n.1717-9586T>G) c.6130T>G (p.Tyr2044Asp) c.4117T>G (p.Tyr1373Asp) c.3667T>G (p.Tyr1223Asp) c.2875T>G (p.Tyr959Asp) | |
| 8 | g.60852643T= | CA1788101566 | CHD7 | c.6040T= (p.Tyr2014=) c.1717-9586T= (n.1717-9586T=) c.6130T= (p.Tyr2044=) c.4117T= (p.Tyr1373=) c.3667T= (p.Tyr1223=) c.2875T= (p.Tyr959=) | |
| 8 | g.60852644A>C | CA371323995 | CHD7 | c.6041A>C (p.Tyr2014Ser) c.1717-9585A>C (n.1717-9585A>C) c.6131A>C (p.Tyr2044Ser) c.4118A>C (p.Tyr1373Ser) c.3668A>C (p.Tyr1223Ser) c.2876A>C (p.Tyr959Ser) | |
| 8 | g.60852644A>G | CA371323994 | CHD7 | c.6041A>G (p.Tyr2014Cys) c.1717-9585A>G (n.1717-9585A>G) c.6131A>G (p.Tyr2044Cys) c.4118A>G (p.Tyr1373Cys) c.3668A>G (p.Tyr1223Cys) c.2876A>G (p.Tyr959Cys) | |
| 8 | g.60852644A>T | CA371323993 | CHD7 | c.6041A>T (p.Tyr2014Phe) c.1717-9585A>T (n.1717-9585A>T) c.6131A>T (p.Tyr2044Phe) c.4118A>T (p.Tyr1373Phe) c.3668A>T (p.Tyr1223Phe) c.2876A>T (p.Tyr959Phe) | |
| 8 | g.60852644dup | CA2695209400 | CHD7 | c.6041dup (p.Tyr2014Ter) c.1717-9585dup (n.1717-9585dup) c.6131dup (p.Tyr2044Ter) c.4118dup (p.Tyr1373Ter) c.3668dup (p.Tyr1223Ter) c.2876dup (p.Tyr959Ter) | |
| 8 | g.60852645C>A | CA371323996 | CHD7 | c.6042C>A (p.Tyr2014Ter) c.1717-9584C>A (n.1717-9584C>A) c.6132C>A (p.Tyr2044Ter) c.4119C>A (p.Tyr1373Ter) c.3669C>A (p.Tyr1223Ter) c.2877C>A (p.Tyr959Ter) | |
| 8 | g.60852645C= | CA1788101571 | CHD7 | c.6042C= (p.Tyr2014=) c.1717-9584C= (n.1717-9584C=) c.6132C= (p.Tyr2044=) c.4119C= (p.Tyr1373=) c.3669C= (p.Tyr1223=) c.2877C= (p.Tyr959=) | |
| 8 | g.60852645C>G | CA371323997 | CHD7 | c.6042C>G (p.Tyr2014Ter) c.1717-9584C>G (n.1717-9584C>G) c.6132C>G (p.Tyr2044Ter) c.4119C>G (p.Tyr1373Ter) c.3669C>G (p.Tyr1223Ter) c.2877C>G (p.Tyr959Ter) | |
| 8 | g.60852645C>T | CA461105033 | CHD7 | c.6042C>T (p.Tyr2014=) c.1717-9584C>T (n.1717-9584C>T) c.6132C>T (p.Tyr2044=) c.4119C>T (p.Tyr1373=) c.3669C>T (p.Tyr1223=) c.2877C>T (p.Tyr959=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852646T>A | CA371323998 | CHD7 | c.6043T>A (p.Phe2015Ile) c.1717-9583T>A (n.1717-9583T>A) c.6133T>A (p.Phe2045Ile) c.4120T>A (p.Phe1374Ile) c.3670T>A (p.Phe1224Ile) c.2878T>A (p.Phe960Ile) | |
| 8 | g.60852646T>C | CA371323999 | CHD7 | c.6043T>C (p.Phe2015Leu) c.1717-9583T>C (n.1717-9583T>C) c.6133T>C (p.Phe2045Leu) c.4120T>C (p.Phe1374Leu) c.3670T>C (p.Phe1224Leu) c.2878T>C (p.Phe960Leu) | dbSNP |
| 8 | g.60852646T>G | CA371324000 | CHD7 | c.6043T>G (p.Phe2015Val) c.1717-9583T>G (n.1717-9583T>G) c.6133T>G (p.Phe2045Val) c.4120T>G (p.Phe1374Val) c.3670T>G (p.Phe1224Val) c.2878T>G (p.Phe960Val) | |
| 8 | g.60852646T= | CA1788101578 | CHD7 | c.6043T= (p.Phe2015=) c.1717-9583T= (n.1717-9583T=) c.6133T= (p.Phe2045=) c.4120T= (p.Phe1374=) c.3670T= (p.Phe1224=) c.2878T= (p.Phe960=) | |
| 8 | g.60852647del | CA2695209401 | CHD7 | c.6044del (p.Phe2015SerfsTer28) c.1717-9582del (n.1717-9582del) c.6134del (p.Phe2045SerfsTer28) c.4121del (p.Phe1374SerfsTer28) c.3671del (p.Phe1224SerfsTer28) c.2879del (p.Phe960SerfsTer28) | |
| 8 | g.60852647T>A | CA371324001 | CHD7 | c.6044T>A (p.Phe2015Tyr) c.1717-9582T>A (n.1717-9582T>A) c.6134T>A (p.Phe2045Tyr) c.4121T>A (p.Phe1374Tyr) c.3671T>A (p.Phe1224Tyr) c.2879T>A (p.Phe960Tyr) | |
| 8 | g.60852647T>C | CA371324002 | CHD7 | c.6044T>C (p.Phe2015Ser) c.1717-9582T>C (n.1717-9582T>C) c.6134T>C (p.Phe2045Ser) c.4121T>C (p.Phe1374Ser) c.3671T>C (p.Phe1224Ser) c.2879T>C (p.Phe960Ser) | |
| 8 | g.60852647T>G | CA371324003 | CHD7 | c.6044T>G (p.Phe2015Cys) c.1717-9582T>G (n.1717-9582T>G) c.6134T>G (p.Phe2045Cys) c.4121T>G (p.Phe1374Cys) c.3671T>G (p.Phe1224Cys) c.2879T>G (p.Phe960Cys) | |
| 8 | g.60852648del | CA2573332920 | CHD7 | c.6045del (p.Phe2015LeufsTer28) c.1717-9581del (n.1717-9581del) c.6135del (p.Phe2045LeufsTer28) c.4122del (p.Phe1374LeufsTer28) c.3672del (p.Phe1224LeufsTer28) c.2880del (p.Phe960LeufsTer28) | ClinVar |
| 8 | g.60852648C>A | CA371324004 | CHD7 | c.6045C>A (p.Phe2015Leu) c.1717-9581C>A (n.1717-9581C>A) c.6135C>A (p.Phe2045Leu) c.4122C>A (p.Phe1374Leu) c.3672C>A (p.Phe1224Leu) c.2880C>A (p.Phe960Leu) | |
| 8 | g.60852648C= | CA1788101610 | CHD7 | c.6045C= (p.Phe2015=) c.1717-9581C= (n.1717-9581C=) c.6135C= (p.Phe2045=) c.4122C= (p.Phe1374=) c.3672C= (p.Phe1224=) c.2880C= (p.Phe960=) | |
| 8 | g.60852648C>G | CA177353955 | CHD7 | c.6045C>G (p.Phe2015Leu) c.1717-9581C>G (n.1717-9581C>G) c.6135C>G (p.Phe2045Leu) c.4122C>G (p.Phe1374Leu) c.3672C>G (p.Phe1224Leu) c.2880C>G (p.Phe960Leu) | dbSNP |
| 8 | g.60852648C>T | CA461105034 | CHD7 | c.6045C>T (p.Phe2015=) c.1717-9581C>T (n.1717-9581C>T) c.6135C>T (p.Phe2045=) c.4122C>T (p.Phe1374=) c.3672C>T (p.Phe1224=) c.2880C>T (p.Phe960=) | gnomAD v4 |
| 8 | g.60852648_60852649del | CA2580078849 | CHD7 | c.6045_6046del (p.Phe2015LeufsTer8) c.1717-9581_1717-9580del (n.1717-9581_1717-9580del) c.6135_6136del (p.Phe2045LeufsTer8) c.4122_4123del (p.Phe1374LeufsTer8) c.3672_3673del (p.Phe1224LeufsTer8) c.2880_2881del (p.Phe960LeufsTer8) | ClinVar |
| 8 | g.60852649A>C | CA371324005 | CHD7 | c.6046A>C (p.Ser2016Arg) c.1717-9580A>C (n.1717-9580A>C) c.6136A>C (p.Ser2046Arg) c.4123A>C (p.Ser1375Arg) c.3673A>C (p.Ser1225Arg) c.2881A>C (p.Ser961Arg) | |
| 8 | g.60852649A>G | CA371324006 | CHD7 | c.6046A>G (p.Ser2016Gly) c.1717-9580A>G (n.1717-9580A>G) c.6136A>G (p.Ser2046Gly) c.4123A>G (p.Ser1375Gly) c.3673A>G (p.Ser1225Gly) c.2881A>G (p.Ser961Gly) | |
| 8 | g.60852649A>T | CA371324007 | CHD7 | c.6046A>T (p.Ser2016Cys) c.1717-9580A>T (n.1717-9580A>T) c.6136A>T (p.Ser2046Cys) c.4123A>T (p.Ser1375Cys) c.3673A>T (p.Ser1225Cys) c.2881A>T (p.Ser961Cys) | gnomAD v4 |
| 8 | g.60852650G>A | CA371324010 | CHD7 | c.6047G>A (p.Ser2016Asn) c.1717-9579G>A (n.1717-9579G>A) c.6137G>A (p.Ser2046Asn) c.4124G>A (p.Ser1375Asn) c.3674G>A (p.Ser1225Asn) c.2882G>A (p.Ser961Asn) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852650G>C | CA371324009 | CHD7 | c.6047G>C (p.Ser2016Thr) c.1717-9579G>C (n.1717-9579G>C) c.6137G>C (p.Ser2046Thr) c.4124G>C (p.Ser1375Thr) c.3674G>C (p.Ser1225Thr) c.2882G>C (p.Ser961Thr) | |
| 8 | g.60852650G= | CA1788101616 | CHD7 | c.6047G= (p.Ser2016=) c.1717-9579G= (n.1717-9579G=) c.6137G= (p.Ser2046=) c.4124G= (p.Ser1375=) c.3674G= (p.Ser1225=) c.2882G= (p.Ser961=) | |
| 8 | g.60852650G>T | CA371324008 | CHD7 | c.6047G>T (p.Ser2016Ile) c.1717-9579G>T (n.1717-9579G>T) c.6137G>T (p.Ser2046Ile) c.4124G>T (p.Ser1375Ile) c.3674G>T (p.Ser1225Ile) c.2882G>T (p.Ser961Ile) | |
| 8 | g.60852651T>A | CA371324011 | CHD7 | c.6048T>A (p.Ser2016Arg) c.1717-9578T>A (n.1717-9578T>A) c.6138T>A (p.Ser2046Arg) c.4125T>A (p.Ser1375Arg) c.3675T>A (p.Ser1225Arg) c.2883T>A (p.Ser961Arg) | |
| 8 | g.60852651T>C | CA461105035 | CHD7 | c.6048T>C (p.Ser2016=) c.1717-9578T>C (n.1717-9578T>C) c.6138T>C (p.Ser2046=) c.4125T>C (p.Ser1375=) c.3675T>C (p.Ser1225=) c.2883T>C (p.Ser961=) | |
| 8 | g.60852651T>G | CA371324012 | CHD7 | c.6048T>G (p.Ser2016Arg) c.1717-9578T>G (n.1717-9578T>G) c.6138T>G (p.Ser2046Arg) c.4125T>G (p.Ser1375Arg) c.3675T>G (p.Ser1225Arg) c.2883T>G (p.Ser961Arg) | |
| 8 | g.60852652T>A | CA371324013 | CHD7 | c.6049T>A (p.Cys2017Ser) c.1717-9577T>A (n.1717-9577T>A) c.6139T>A (p.Cys2047Ser) c.4126T>A (p.Cys1376Ser) c.3676T>A (p.Cys1226Ser) c.2884T>A (p.Cys962Ser) | |
| 8 | g.60852652T>C | CA371324014 | CHD7 | c.6049T>C (p.Cys2017Arg) c.1717-9577T>C (n.1717-9577T>C) c.6139T>C (p.Cys2047Arg) c.4126T>C (p.Cys1376Arg) c.3676T>C (p.Cys1226Arg) c.2884T>C (p.Cys962Arg) | |
| 8 | g.60852652T>G | CA371324015 | CHD7 | c.6049T>G (p.Cys2017Gly) c.1717-9577T>G (n.1717-9577T>G) c.6139T>G (p.Cys2047Gly) c.4126T>G (p.Cys1376Gly) c.3676T>G (p.Cys1226Gly) c.2884T>G (p.Cys962Gly) | |
| 8 | g.60852653G>A | CA371324016 | CHD7 | c.6050G>A (p.Cys2017Tyr) c.1717-9576G>A (n.1717-9576G>A) c.6140G>A (p.Cys2047Tyr) c.4127G>A (p.Cys1376Tyr) c.3677G>A (p.Cys1226Tyr) c.2885G>A (p.Cys962Tyr) | |
| 8 | g.60852653G>C | CA371324017 | CHD7 | c.6050G>C (p.Cys2017Ser) c.1717-9576G>C (n.1717-9576G>C) c.6140G>C (p.Cys2047Ser) c.4127G>C (p.Cys1376Ser) c.3677G>C (p.Cys1226Ser) c.2885G>C (p.Cys962Ser) | |
| 8 | g.60852653G>T | CA371324018 | CHD7 | c.6050G>T (p.Cys2017Phe) c.1717-9576G>T (n.1717-9576G>T) c.6140G>T (p.Cys2047Phe) c.4127G>T (p.Cys1376Phe) c.3677G>T (p.Cys1226Phe) c.2885G>T (p.Cys962Phe) | |
| 8 | g.60852654T>A | CA371324019 | CHD7 | c.6051T>A (p.Cys2017Ter) c.1717-9575T>A (n.1717-9575T>A) c.6141T>A (p.Cys2047Ter) c.4128T>A (p.Cys1376Ter) c.3678T>A (p.Cys1226Ter) c.2886T>A (p.Cys962Ter) | |
| 8 | g.60852654T>C | CA461105036 | CHD7 | c.6051T>C (p.Cys2017=) c.1717-9575T>C (n.1717-9575T>C) c.6141T>C (p.Cys2047=) c.4128T>C (p.Cys1376=) c.3678T>C (p.Cys1226=) c.2886T>C (p.Cys962=) | |
| 8 | g.60852654T>G | CA371324020 | CHD7 | c.6051T>G (p.Cys2017Trp) c.1717-9575T>G (n.1717-9575T>G) c.6141T>G (p.Cys2047Trp) c.4128T>G (p.Cys1376Trp) c.3678T>G (p.Cys1226Trp) c.2886T>G (p.Cys962Trp) | |
| 8 | g.60852655T>A | CA371324021 | CHD7 | c.6052T>A (p.Phe2018Ile) c.1717-9574T>A (n.1717-9574T>A) c.6142T>A (p.Phe2048Ile) c.4129T>A (p.Phe1377Ile) c.3679T>A (p.Phe1227Ile) c.2887T>A (p.Phe963Ile) | |
| 8 | g.60852655T>C | CA371324022 | CHD7 | c.6052T>C (p.Phe2018Leu) c.1717-9574T>C (n.1717-9574T>C) c.6142T>C (p.Phe2048Leu) c.4129T>C (p.Phe1377Leu) c.3679T>C (p.Phe1227Leu) c.2887T>C (p.Phe963Leu) | |
| 8 | g.60852655T>G | CA371324023 | CHD7 | c.6052T>G (p.Phe2018Val) c.1717-9574T>G (n.1717-9574T>G) c.6142T>G (p.Phe2048Val) c.4129T>G (p.Phe1377Val) c.3679T>G (p.Phe1227Val) c.2887T>G (p.Phe963Val) | |
| 8 | g.60852656T>A | CA371324025 | CHD7 | c.6053T>A (p.Phe2018Tyr) c.1717-9573T>A (n.1717-9573T>A) c.6143T>A (p.Phe2048Tyr) c.4130T>A (p.Phe1377Tyr) c.3680T>A (p.Phe1227Tyr) c.2888T>A (p.Phe963Tyr) | |
| 8 | g.60852656T>C | CA371324026 | CHD7 | c.6053T>C (p.Phe2018Ser) c.1717-9573T>C (n.1717-9573T>C) c.6143T>C (p.Phe2048Ser) c.4130T>C (p.Phe1377Ser) c.3680T>C (p.Phe1227Ser) c.2888T>C (p.Phe963Ser) | |
| 8 | g.60852656T>G | CA371324024 | CHD7 | c.6053T>G (p.Phe2018Cys) c.1717-9573T>G (n.1717-9573T>G) c.6143T>G (p.Phe2048Cys) c.4130T>G (p.Phe1377Cys) c.3680T>G (p.Phe1227Cys) c.2888T>G (p.Phe963Cys) | |
| 8 | g.60852657T>A | CA371324027 | CHD7 | c.6054T>A (p.Phe2018Leu) c.1717-9572T>A (n.1717-9572T>A) c.6144T>A (p.Phe2048Leu) c.4131T>A (p.Phe1377Leu) c.3681T>A (p.Phe1227Leu) c.2889T>A (p.Phe963Leu) | |
| 8 | g.60852657T>C | CA4760509 | CHD7 | c.6054T>C (p.Phe2018=) c.1717-9572T>C (n.1717-9572T>C) c.6144T>C (p.Phe2048=) c.4131T>C (p.Phe1377=) c.3681T>C (p.Phe1227=) c.2889T>C (p.Phe963=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852657T>G | CA371324028 | CHD7 | c.6054T>G (p.Phe2018Leu) c.1717-9572T>G (n.1717-9572T>G) c.6144T>G (p.Phe2048Leu) c.4131T>G (p.Phe1377Leu) c.3681T>G (p.Phe1227Leu) c.2889T>G (p.Phe963Leu) | |
| 8 | g.60852657T= | CA1788101624 | CHD7 | c.6054T= (p.Phe2018=) c.1717-9572T= (n.1717-9572T=) c.6144T= (p.Phe2048=) c.4131T= (p.Phe1377=) c.3681T= (p.Phe1227=) c.2889T= (p.Phe963=) | |
| 8 | g.60852658G>A | CA371324029 | CHD7 | c.6055G>A (p.Val2019Met) c.1717-9571G>A (n.1717-9571G>A) c.6145G>A (p.Val2049Met) c.4132G>A (p.Val1378Met) c.3682G>A (p.Val1228Met) c.2890G>A (p.Val964Met) | |
| 8 | g.60852658G>C | CA371324030 | CHD7 | c.6055G>C (p.Val2019Leu) c.1717-9571G>C (n.1717-9571G>C) c.6145G>C (p.Val2049Leu) c.4132G>C (p.Val1378Leu) c.3682G>C (p.Val1228Leu) c.2890G>C (p.Val964Leu) | |
| 8 | g.60852658G>T | CA371324031 | CHD7 | c.6055G>T (p.Val2019Leu) c.1717-9571G>T (n.1717-9571G>T) c.6145G>T (p.Val2049Leu) c.4132G>T (p.Val1378Leu) c.3682G>T (p.Val1228Leu) c.2890G>T (p.Val964Leu) | |
| 8 | g.60852659T>A | CA371324032 | CHD7 | c.6056T>A (p.Val2019Glu) c.1717-9570T>A (n.1717-9570T>A) c.6146T>A (p.Val2049Glu) c.4133T>A (p.Val1378Glu) c.3683T>A (p.Val1228Glu) c.2891T>A (p.Val964Glu) | |
| 8 | g.60852659T>C | CA371324033 | CHD7 | c.6056T>C (p.Val2019Ala) c.1717-9570T>C (n.1717-9570T>C) c.6146T>C (p.Val2049Ala) c.4133T>C (p.Val1378Ala) c.3683T>C (p.Val1228Ala) c.2891T>C (p.Val964Ala) | |
| 8 | g.60852659T>G | CA371324034 | CHD7 | c.6056T>G (p.Val2019Gly) c.1717-9570T>G (n.1717-9570T>G) c.6146T>G (p.Val2049Gly) c.4133T>G (p.Val1378Gly) c.3683T>G (p.Val1228Gly) c.2891T>G (p.Val964Gly) | |
| 8 | g.60852660G>A | CA461105037 | CHD7 | c.6057G>A (p.Val2019=) c.1717-9569G>A (n.1717-9569G>A) c.6147G>A (p.Val2049=) c.4134G>A (p.Val1378=) c.3684G>A (p.Val1228=) c.2892G>A (p.Val964=) | gnomAD v4 |
| 8 | g.60852660G>C | CA461105038 | CHD7 | c.6057G>C (p.Val2019=) c.1717-9569G>C (n.1717-9569G>C) c.6147G>C (p.Val2049=) c.4134G>C (p.Val1378=) c.3684G>C (p.Val1228=) c.2892G>C (p.Val964=) | |
| 8 | g.60852660G>T | CA461105039 | CHD7 | c.6057G>T (p.Val2019=) c.1717-9569G>T (n.1717-9569G>T) c.6147G>T (p.Val2049=) c.4134G>T (p.Val1378=) c.3684G>T (p.Val1228=) c.2892G>T (p.Val964=) | |
| 8 | g.60852661G>A | CA371324035 | CHD7 | c.6058G>A (p.Ala2020Thr) c.1717-9568G>A (n.1717-9568G>A) c.6148G>A (p.Ala2050Thr) c.4135G>A (p.Ala1379Thr) c.3685G>A (p.Ala1229Thr) c.2893G>A (p.Ala965Thr) | |
| 8 | g.60852661G>C | CA371324036 | CHD7 | c.6058G>C (p.Ala2020Pro) c.1717-9568G>C (n.1717-9568G>C) c.6148G>C (p.Ala2050Pro) c.4135G>C (p.Ala1379Pro) c.3685G>C (p.Ala1229Pro) c.2893G>C (p.Ala965Pro) | gnomAD v4 |
| 8 | g.60852661G>T | CA371324037 | CHD7 | c.6058G>T (p.Ala2020Ser) c.1717-9568G>T (n.1717-9568G>T) c.6148G>T (p.Ala2050Ser) c.4135G>T (p.Ala1379Ser) c.3685G>T (p.Ala1229Ser) c.2893G>T (p.Ala965Ser) | |
| 8 | g.60852662C>A | CA371324039 | CHD7 | c.6059C>A (p.Ala2020Asp) c.1717-9567C>A (n.1717-9567C>A) c.6149C>A (p.Ala2050Asp) c.4136C>A (p.Ala1379Asp) c.3686C>A (p.Ala1229Asp) c.2894C>A (p.Ala965Asp) | |
| 8 | g.60852662C= | CA1788101636 | CHD7 | c.6059C= (p.Ala2020=) c.1717-9567C= (n.1717-9567C=) c.6149C= (p.Ala2050=) c.4136C= (p.Ala1379=) c.3686C= (p.Ala1229=) c.2894C= (p.Ala965=) | |
| 8 | g.60852662C>G | CA371324038 | CHD7 | c.6059C>G (p.Ala2020Gly) c.1717-9567C>G (n.1717-9567C>G) c.6149C>G (p.Ala2050Gly) c.4136C>G (p.Ala1379Gly) c.3686C>G (p.Ala1229Gly) c.2894C>G (p.Ala965Gly) | |
| 8 | g.60852662C>T | CA4760510 | CHD7 | c.6059C>T (p.Ala2020Val) c.1717-9567C>T (n.1717-9567C>T) c.6149C>T (p.Ala2050Val) c.4136C>T (p.Ala1379Val) c.3686C>T (p.Ala1229Val) c.2894C>T (p.Ala965Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852663C>A | CA461105040 | CHD7 | c.6060C>A (p.Ala2020=) c.1717-9566C>A (n.1717-9566C>A) c.6150C>A (p.Ala2050=) c.4137C>A (p.Ala1379=) c.3687C>A (p.Ala1229=) c.2895C>A (p.Ala965=) | |
| 8 | g.60852663C>G | CA461105041 | CHD7 | c.6060C>G (p.Ala2020=) c.1717-9566C>G (n.1717-9566C>G) c.6150C>G (p.Ala2050=) c.4137C>G (p.Ala1379=) c.3687C>G (p.Ala1229=) c.2895C>G (p.Ala965=) | |
| 8 | g.60852663C>T | CA461105042 | CHD7 | c.6060C>T (p.Ala2020=) c.1717-9566C>T (n.1717-9566C>T) c.6150C>T (p.Ala2050=) c.4137C>T (p.Ala1379=) c.3687C>T (p.Ala1229=) c.2895C>T (p.Ala965=) | |
| 8 | g.60852664A>C | CA371324040 | CHD7 | c.6061A>C (p.Met2021Leu) c.1717-9565A>C (n.1717-9565A>C) c.6151A>C (p.Met2051Leu) c.4138A>C (p.Met1380Leu) c.3688A>C (p.Met1230Leu) c.2896A>C (p.Met966Leu) | |
| 8 | g.60852664A>G | CA371324041 | CHD7 | c.6061A>G (p.Met2021Val) c.1717-9565A>G (n.1717-9565A>G) c.6151A>G (p.Met2051Val) c.4138A>G (p.Met1380Val) c.3688A>G (p.Met1230Val) c.2896A>G (p.Met966Val) | |
| 8 | g.60852664A>T | CA371324042 | CHD7 | c.6061A>T (p.Met2021Leu) c.1717-9565A>T (n.1717-9565A>T) c.6151A>T (p.Met2051Leu) c.4138A>T (p.Met1380Leu) c.3688A>T (p.Met1230Leu) c.2896A>T (p.Met966Leu) | gnomAD v4 |
| 8 | g.60852665T>A | CA371324043 | CHD7 | c.6062T>A (p.Met2021Lys) c.1717-9564T>A (n.1717-9564T>A) c.6152T>A (p.Met2051Lys) c.4139T>A (p.Met1380Lys) c.3689T>A (p.Met1230Lys) c.2897T>A (p.Met966Lys) | |
| 8 | g.60852665T>C | CA371324044 | CHD7 | c.6062T>C (p.Met2021Thr) c.1717-9564T>C (n.1717-9564T>C) c.6152T>C (p.Met2051Thr) c.4139T>C (p.Met1380Thr) c.3689T>C (p.Met1230Thr) c.2897T>C (p.Met966Thr) | gnomAD v4 |
| 8 | g.60852665T>G | CA371324045 | CHD7 | c.6062T>G (p.Met2021Arg) c.1717-9564T>G (n.1717-9564T>G) c.6152T>G (p.Met2051Arg) c.4139T>G (p.Met1380Arg) c.3689T>G (p.Met1230Arg) c.2897T>G (p.Met966Arg) | |
| 8 | g.60852666G>A | CA371324046 | CHD7 | c.6063G>A (p.Met2021Ile) c.1717-9563G>A (n.1717-9563G>A) c.6153G>A (p.Met2051Ile) c.4140G>A (p.Met1380Ile) c.3690G>A (p.Met1230Ile) c.2898G>A (p.Met966Ile) | |
| 8 | g.60852666G>C | CA371324047 | CHD7 | c.6063G>C (p.Met2021Ile) c.1717-9563G>C (n.1717-9563G>C) c.6153G>C (p.Met2051Ile) c.4140G>C (p.Met1380Ile) c.3690G>C (p.Met1230Ile) c.2898G>C (p.Met966Ile) | |
| 8 | g.60852666G>T | CA371324048 | CHD7 | c.6063G>T (p.Met2021Ile) c.1717-9563G>T (n.1717-9563G>T) c.6153G>T (p.Met2051Ile) c.4140G>T (p.Met1380Ile) c.3690G>T (p.Met1230Ile) c.2898G>T (p.Met966Ile) | |
| 8 | g.60852667T>A | CA371324049 | CHD7 | c.6064T>A (p.Cys2022Ser) c.1717-9562T>A (n.1717-9562T>A) c.6154T>A (p.Cys2052Ser) c.4141T>A (p.Cys1381Ser) c.3691T>A (p.Cys1231Ser) c.2899T>A (p.Cys967Ser) | |
| 8 | g.60852667T>C | CA371324050 | CHD7 | c.6064T>C (p.Cys2022Arg) c.1717-9562T>C (n.1717-9562T>C) c.6154T>C (p.Cys2052Arg) c.4141T>C (p.Cys1381Arg) c.3691T>C (p.Cys1231Arg) c.2899T>C (p.Cys967Arg) | |
| 8 | g.60852667T>G | CA371324051 | CHD7 | c.6064T>G (p.Cys2022Gly) c.1717-9562T>G (n.1717-9562T>G) c.6154T>G (p.Cys2052Gly) c.4141T>G (p.Cys1381Gly) c.3691T>G (p.Cys1231Gly) c.2899T>G (p.Cys967Gly) | |
| 8 | g.60852668G>A | CA371324053 | CHD7 | c.6065G>A (p.Cys2022Tyr) c.1717-9561G>A (n.1717-9561G>A) c.6155G>A (p.Cys2052Tyr) c.4142G>A (p.Cys1381Tyr) c.3692G>A (p.Cys1231Tyr) c.2900G>A (p.Cys967Tyr) | |
| 8 | g.60852668G>C | CA371324054 | CHD7 | c.6065G>C (p.Cys2022Ser) c.1717-9561G>C (n.1717-9561G>C) c.6155G>C (p.Cys2052Ser) c.4142G>C (p.Cys1381Ser) c.3692G>C (p.Cys1231Ser) c.2900G>C (p.Cys967Ser) | |
| 8 | g.60852668G>T | CA371324052 | CHD7 | c.6065G>T (p.Cys2022Phe) c.1717-9561G>T (n.1717-9561G>T) c.6155G>T (p.Cys2052Phe) c.4142G>T (p.Cys1381Phe) c.3692G>T (p.Cys1231Phe) c.2900G>T (p.Cys967Phe) | |
| 8 | g.60852669T>A | CA371324057 | CHD7 | c.6066T>A (p.Cys2022Ter) c.1717-9560T>A (n.1717-9560T>A) c.6156T>A (p.Cys2052Ter) c.4143T>A (p.Cys1381Ter) c.3693T>A (p.Cys1231Ter) c.2901T>A (p.Cys967Ter) | |
| 8 | g.60852669T>C | CA461104861 | CHD7 | c.6066T>C (p.Cys2022=) c.1717-9560T>C (n.1717-9560T>C) c.6156T>C (p.Cys2052=) c.4143T>C (p.Cys1381=) c.3693T>C (p.Cys1231=) c.2901T>C (p.Cys967=) | |
| 8 | g.60852669T>G | CA371324056 | CHD7 | c.6066T>G (p.Cys2022Trp) c.1717-9560T>G (n.1717-9560T>G) c.6156T>G (p.Cys2052Trp) c.4143T>G (p.Cys1381Trp) c.3693T>G (p.Cys1231Trp) c.2901T>G (p.Cys967Trp) | |
| 8 | g.60852670A>C | CA461104862 | CHD7 | c.6067A>C (p.Arg2023=) c.1717-9559A>C (n.1717-9559A>C) c.6157A>C (p.Arg2053=) c.4144A>C (p.Arg1382=) c.3694A>C (p.Arg1232=) c.2902A>C (p.Arg968=) | |
| 8 | g.60852670A>G | CA371324061 | CHD7 | c.6067A>G (p.Arg2023Gly) c.1717-9559A>G (n.1717-9559A>G) c.6157A>G (p.Arg2053Gly) c.4144A>G (p.Arg1382Gly) c.3694A>G (p.Arg1232Gly) c.2902A>G (p.Arg968Gly) | gnomAD v4 |
| 8 | g.60852670A>T | CA371324059 | CHD7 | c.6067A>T (p.Arg2023Trp) c.1717-9559A>T (n.1717-9559A>T) c.6157A>T (p.Arg2053Trp) c.4144A>T (p.Arg1382Trp) c.3694A>T (p.Arg1232Trp) c.2902A>T (p.Arg968Trp) |