Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60848820_60849136delinsATCCAAACACACCATGT | CA2739268791 | CHD7 | c.5300+216_5386delinsATCCAAACACACCATGT c.1717-13409_1717-13093delinsATCCAAACACACCATGT (n.1717-13409_1717-13093delinsATCCAAACACACCATGT) c.5390+216_5476delinsATCCAAACACACCATGT c.3377+216_3463delinsATCCAAACACACCATGT c.2927+216_3013delinsATCCAAACACACCATGT c.2135+216_2221delinsATCCAAACACACCATGT | ClinVar |
8 | g.60849080del | CA916080392 | CHD7 | c.5330del (p.Phe1777SerfsTer19) c.1717-13149del (n.1717-13149del) c.5420del (p.Phe1807SerfsTer19) c.3407del (p.Phe1136SerfsTer19) c.2957del (p.Phe986SerfsTer19) c.2165del (p.Phe722SerfsTer19) | ClinVar dbSNP |
8 | g.60849080T>A | CA371321090 | CHD7 | c.5330T>A (p.Phe1777Tyr) c.1717-13149T>A (n.1717-13149T>A) c.5420T>A (p.Phe1807Tyr) c.3407T>A (p.Phe1136Tyr) c.2957T>A (p.Phe986Tyr) c.2165T>A (p.Phe722Tyr) | |
8 | g.60849080T>C | CA371321091 | CHD7 | c.5330T>C (p.Phe1777Ser) c.1717-13149T>C (n.1717-13149T>C) c.5420T>C (p.Phe1807Ser) c.3407T>C (p.Phe1136Ser) c.2957T>C (p.Phe986Ser) c.2165T>C (p.Phe722Ser) | |
8 | g.60849080T>G | CA371321093 | CHD7 | c.5330T>G (p.Phe1777Cys) c.1717-13149T>G (n.1717-13149T>G) c.5420T>G (p.Phe1807Cys) c.3407T>G (p.Phe1136Cys) c.2957T>G (p.Phe986Cys) c.2165T>G (p.Phe722Cys) | ClinVar |
8 | g.60849081C>A | CA371321094 | CHD7 | c.5331C>A (p.Phe1777Leu) c.1717-13148C>A (n.1717-13148C>A) c.5421C>A (p.Phe1807Leu) c.3408C>A (p.Phe1136Leu) c.2958C>A (p.Phe986Leu) c.2166C>A (p.Phe722Leu) | |
8 | g.60849081C= | CA1788134706 | CHD7 | c.5331C= (p.Phe1777=) c.1717-13148C= (n.1717-13148C=) c.5421C= (p.Phe1807=) c.3408C= (p.Phe1136=) c.2958C= (p.Phe986=) c.2166C= (p.Phe722=) | |
8 | g.60849081C>G | CA371321095 | CHD7 | c.5331C>G (p.Phe1777Leu) c.1717-13148C>G (n.1717-13148C>G) c.5421C>G (p.Phe1807Leu) c.3408C>G (p.Phe1136Leu) c.2958C>G (p.Phe986Leu) c.2166C>G (p.Phe722Leu) | |
8 | g.60849081C>T | CA177352585 | CHD7 | c.5331C>T (p.Phe1777=) c.1717-13148C>T (n.1717-13148C>T) c.5421C>T (p.Phe1807=) c.3408C>T (p.Phe1136=) c.2958C>T (p.Phe986=) c.2166C>T (p.Phe722=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849082dup | CA2695209743 | CHD7 | c.5332dup (p.His1778ProfsTer3) c.1717-13147dup (n.1717-13147dup) c.5422dup (p.His1808ProfsTer3) c.3409dup (p.His1137ProfsTer3) c.2959dup (p.His987ProfsTer3) c.2167dup (p.His723ProfsTer3) | |
8 | g.60849082C>A | CA371321097 | CHD7 | c.5332C>A (p.His1778Asn) c.1717-13147C>A (n.1717-13147C>A) c.5422C>A (p.His1808Asn) c.3409C>A (p.His1137Asn) c.2959C>A (p.His987Asn) c.2167C>A (p.His723Asn) | |
8 | g.60849082C>G | CA371321100 | CHD7 | c.5332C>G (p.His1778Asp) c.1717-13147C>G (n.1717-13147C>G) c.5422C>G (p.His1808Asp) c.3409C>G (p.His1137Asp) c.2959C>G (p.His987Asp) c.2167C>G (p.His723Asp) | |
8 | g.60849082C>T | CA371321098 | CHD7 | c.5332C>T (p.His1778Tyr) c.1717-13147C>T (n.1717-13147C>T) c.5422C>T (p.His1808Tyr) c.3409C>T (p.His1137Tyr) c.2959C>T (p.His987Tyr) c.2167C>T (p.His723Tyr) | |
8 | g.60849083A= | CA1788134716 | CHD7 | c.5333A= (p.His1778=) c.1717-13146A= (n.1717-13146A=) c.5423A= (p.His1808=) c.3410A= (p.His1137=) c.2960A= (p.His987=) c.2168A= (p.His723=) | |
8 | g.60849083A>C | CA371321101 | CHD7 | c.5333A>C (p.His1778Pro) c.1717-13146A>C (n.1717-13146A>C) c.5423A>C (p.His1808Pro) c.3410A>C (p.His1137Pro) c.2960A>C (p.His987Pro) c.2168A>C (p.His723Pro) | |
8 | g.60849083A>G | CA371321103 | CHD7 | c.5333A>G (p.His1778Arg) c.1717-13146A>G (n.1717-13146A>G) c.5423A>G (p.His1808Arg) c.3410A>G (p.His1137Arg) c.2960A>G (p.His987Arg) c.2168A>G (p.His723Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.60849083A>T | CA4760341 | CHD7 | c.5333A>T (p.His1778Leu) c.1717-13146A>T (n.1717-13146A>T) c.5423A>T (p.His1808Leu) c.3410A>T (p.His1137Leu) c.2960A>T (p.His987Leu) c.2168A>T (p.His723Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60849084T>A | CA371321105 | CHD7 | c.5334T>A (p.His1778Gln) c.1717-13145T>A (n.1717-13145T>A) c.5424T>A (p.His1808Gln) c.3411T>A (p.His1137Gln) c.2961T>A (p.His987Gln) c.2169T>A (p.His723Gln) | gnomAD v4 |
8 | g.60849084T>C | CA460848444 | CHD7 | c.5334T>C (p.His1778=) c.1717-13145T>C (n.1717-13145T>C) c.5424T>C (p.His1808=) c.3411T>C (p.His1137=) c.2961T>C (p.His987=) c.2169T>C (p.His723=) | |
8 | g.60849084T>G | CA371321107 | CHD7 | c.5334T>G (p.His1778Gln) c.1717-13145T>G (n.1717-13145T>G) c.5424T>G (p.His1808Gln) c.3411T>G (p.His1137Gln) c.2961T>G (p.His987Gln) c.2169T>G (p.His723Gln) | |
8 | g.60849085G>A | CA371321108 | CHD7 | c.5335G>A (p.Ala1779Thr) c.1717-13144G>A (n.1717-13144G>A) c.5425G>A (p.Ala1809Thr) c.3412G>A (p.Ala1138Thr) c.2962G>A (p.Ala988Thr) c.2170G>A (p.Ala724Thr) | |
8 | g.60849085G>C | CA371321110 | CHD7 | c.5335G>C (p.Ala1779Pro) c.1717-13144G>C (n.1717-13144G>C) c.5425G>C (p.Ala1809Pro) c.3412G>C (p.Ala1138Pro) c.2962G>C (p.Ala988Pro) c.2170G>C (p.Ala724Pro) | |
8 | g.60849085G>T | CA371321111 | CHD7 | c.5335G>T (p.Ala1779Ser) c.1717-13144G>T (n.1717-13144G>T) c.5425G>T (p.Ala1809Ser) c.3412G>T (p.Ala1138Ser) c.2962G>T (p.Ala988Ser) c.2170G>T (p.Ala724Ser) | |
8 | g.60849086C>A | CA371321113 | CHD7 | c.5336C>A (p.Ala1779Asp) c.1717-13143C>A (n.1717-13143C>A) c.5426C>A (p.Ala1809Asp) c.3413C>A (p.Ala1138Asp) c.2963C>A (p.Ala988Asp) c.2171C>A (p.Ala724Asp) | |
8 | g.60849086C= | CA1788134724 | CHD7 | c.5336C= (p.Ala1779=) c.1717-13143C= (n.1717-13143C=) c.5426C= (p.Ala1809=) c.3413C= (p.Ala1138=) c.2963C= (p.Ala988=) c.2171C= (p.Ala724=) | |
8 | g.60849086C>G | CA4760342 | CHD7 | c.5336C>G (p.Ala1779Gly) c.1717-13143C>G (n.1717-13143C>G) c.5426C>G (p.Ala1809Gly) c.3413C>G (p.Ala1138Gly) c.2963C>G (p.Ala988Gly) c.2171C>G (p.Ala724Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60849086C>T | CA4760343 | CHD7 | c.5336C>T (p.Ala1779Val) c.1717-13143C>T (n.1717-13143C>T) c.5426C>T (p.Ala1809Val) c.3413C>T (p.Ala1138Val) c.2963C>T (p.Ala988Val) c.2171C>T (p.Ala724Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849087T>A | CA460848445 | CHD7 | c.5337T>A (p.Ala1779=) c.1717-13142T>A (n.1717-13142T>A) c.5427T>A (p.Ala1809=) c.3414T>A (p.Ala1138=) c.2964T>A (p.Ala988=) c.2172T>A (p.Ala724=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60849087T>C | CA460848446 | CHD7 | c.5337T>C (p.Ala1779=) c.1717-13142T>C (n.1717-13142T>C) c.5427T>C (p.Ala1809=) c.3414T>C (p.Ala1138=) c.2964T>C (p.Ala988=) c.2172T>C (p.Ala724=) | ClinVar dbSNP |
8 | g.60849087T>G | CA460848447 | CHD7 | c.5337T>G (p.Ala1779=) c.1717-13142T>G (n.1717-13142T>G) c.5427T>G (p.Ala1809=) c.3414T>G (p.Ala1138=) c.2964T>G (p.Ala988=) c.2172T>G (p.Ala724=) | |
8 | g.60849087T= | CA1788134728 | CHD7 | c.5337T= (p.Ala1779=) c.1717-13142T= (n.1717-13142T=) c.5427T= (p.Ala1809=) c.3414T= (p.Ala1138=) c.2964T= (p.Ala988=) c.2172T= (p.Ala724=) | |
8 | g.60849088G>A | CA371321117 | CHD7 | c.5338G>A (p.Glu1780Lys) c.1717-13141G>A (n.1717-13141G>A) c.5428G>A (p.Glu1810Lys) c.3415G>A (p.Glu1139Lys) c.2965G>A (p.Glu989Lys) c.2173G>A (p.Glu725Lys) | |
8 | g.60849088G>C | CA371321119 | CHD7 | c.5338G>C (p.Glu1780Gln) c.1717-13141G>C (n.1717-13141G>C) c.5428G>C (p.Glu1810Gln) c.3415G>C (p.Glu1139Gln) c.2965G>C (p.Glu989Gln) c.2173G>C (p.Glu725Gln) | |
8 | g.60849088G>T | CA371321115 | CHD7 | c.5338G>T (p.Glu1780Ter) c.1717-13141G>T (n.1717-13141G>T) c.5428G>T (p.Glu1810Ter) c.3415G>T (p.Glu1139Ter) c.2965G>T (p.Glu989Ter) c.2173G>T (p.Glu725Ter) | |
8 | g.60849089A= | CA1788134730 | CHD7 | c.5339A= (p.Glu1780=) c.1717-13140A= (n.1717-13140A=) c.5429A= (p.Glu1810=) c.3416A= (p.Glu1139=) c.2966A= (p.Glu989=) c.2174A= (p.Glu725=) | |
8 | g.60849089A>C | CA371321120 | CHD7 | c.5339A>C (p.Glu1780Ala) c.1717-13140A>C (n.1717-13140A>C) c.5429A>C (p.Glu1810Ala) c.3416A>C (p.Glu1139Ala) c.2966A>C (p.Glu989Ala) c.2174A>C (p.Glu725Ala) | |
8 | g.60849089A>G | CA371321123 | CHD7 | c.5339A>G (p.Glu1780Gly) c.1717-13140A>G (n.1717-13140A>G) c.5429A>G (p.Glu1810Gly) c.3416A>G (p.Glu1139Gly) c.2966A>G (p.Glu989Gly) c.2174A>G (p.Glu725Gly) | |
8 | g.60849089A>T | CA371321122 | CHD7 | c.5339A>T (p.Glu1780Val) c.1717-13140A>T (n.1717-13140A>T) c.5429A>T (p.Glu1810Val) c.3416A>T (p.Glu1139Val) c.2966A>T (p.Glu989Val) c.2174A>T (p.Glu725Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.60849090A>C | CA371321125 | CHD7 | c.5340A>C (p.Glu1780Asp) c.1717-13139A>C (n.1717-13139A>C) c.5430A>C (p.Glu1810Asp) c.3417A>C (p.Glu1139Asp) c.2967A>C (p.Glu989Asp) c.2175A>C (p.Glu725Asp) | |
8 | g.60849090A>G | CA460848448 | CHD7 | c.5340A>G (p.Glu1780=) c.1717-13139A>G (n.1717-13139A>G) c.5430A>G (p.Glu1810=) c.3417A>G (p.Glu1139=) c.2967A>G (p.Glu989=) c.2175A>G (p.Glu725=) | ClinVar dbSNP gnomAD v4 |
8 | g.60849090A>T | CA371321126 | CHD7 | c.5340A>T (p.Glu1780Asp) c.1717-13139A>T (n.1717-13139A>T) c.5430A>T (p.Glu1810Asp) c.3417A>T (p.Glu1139Asp) c.2967A>T (p.Glu989Asp) c.2175A>T (p.Glu725Asp) | |
8 | g.60849091G>A | CA371321127 | CHD7 | c.5341G>A (p.Val1781Ile) c.1717-13138G>A (n.1717-13138G>A) c.5431G>A (p.Val1811Ile) c.3418G>A (p.Val1140Ile) c.2968G>A (p.Val990Ile) c.2176G>A (p.Val726Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849091G>C | CA371321128 | CHD7 | c.5341G>C (p.Val1781Leu) c.1717-13138G>C (n.1717-13138G>C) c.5431G>C (p.Val1811Leu) c.3418G>C (p.Val1140Leu) c.2968G>C (p.Val990Leu) c.2176G>C (p.Val726Leu) | |
8 | g.60849091G= | CA1788134734 | CHD7 | c.5341G= (p.Val1781=) c.1717-13138G= (n.1717-13138G=) c.5431G= (p.Val1811=) c.3418G= (p.Val1140=) c.2968G= (p.Val990=) c.2176G= (p.Val726=) | |
8 | g.60849091G>T | CA371321130 | CHD7 | c.5341G>T (p.Val1781Phe) c.1717-13138G>T (n.1717-13138G>T) c.5431G>T (p.Val1811Phe) c.3418G>T (p.Val1140Phe) c.2968G>T (p.Val990Phe) c.2176G>T (p.Val726Phe) | gnomAD v4 |
8 | g.60849092T>A | CA371321132 | CHD7 | c.5342T>A (p.Val1781Asp) c.1717-13137T>A (n.1717-13137T>A) c.5432T>A (p.Val1811Asp) c.3419T>A (p.Val1140Asp) c.2969T>A (p.Val990Asp) c.2177T>A (p.Val726Asp) | |
8 | g.60849092T>C | CA371321133 | CHD7 | c.5342T>C (p.Val1781Ala) c.1717-13137T>C (n.1717-13137T>C) c.5432T>C (p.Val1811Ala) c.3419T>C (p.Val1140Ala) c.2969T>C (p.Val990Ala) c.2177T>C (p.Val726Ala) | |
8 | g.60849092T>G | CA371321134 | CHD7 | c.5342T>G (p.Val1781Gly) c.1717-13137T>G (n.1717-13137T>G) c.5432T>G (p.Val1811Gly) c.3419T>G (p.Val1140Gly) c.2969T>G (p.Val990Gly) c.2177T>G (p.Val726Gly) | |
8 | g.60849093T>A | CA460848450 | CHD7 | c.5343T>A (p.Val1781=) c.1717-13136T>A (n.1717-13136T>A) c.5433T>A (p.Val1811=) c.3420T>A (p.Val1140=) c.2970T>A (p.Val990=) c.2178T>A (p.Val726=) | |
8 | g.60849093T>C | CA10628140 | CHD7 | c.5343T>C (p.Val1781=) c.1717-13136T>C (n.1717-13136T>C) c.5433T>C (p.Val1811=) c.3420T>C (p.Val1140=) c.2970T>C (p.Val990=) c.2178T>C (p.Val726=) | ClinVar dbSNP |
8 | g.60849093T>G | CA460848449 | CHD7 | c.5343T>G (p.Val1781=) c.1717-13136T>G (n.1717-13136T>G) c.5433T>G (p.Val1811=) c.3420T>G (p.Val1140=) c.2970T>G (p.Val990=) c.2178T>G (p.Val726=) | |
8 | g.60849093T= | CA1788134739 | CHD7 | c.5343T= (p.Val1781=) c.1717-13136T= (n.1717-13136T=) c.5433T= (p.Val1811=) c.3420T= (p.Val1140=) c.2970T= (p.Val990=) c.2178T= (p.Val726=) | |
8 | g.60849094C>A | CA371321138 | CHD7 | c.5344C>A (p.Pro1782Thr) c.1717-13135C>A (n.1717-13135C>A) c.5434C>A (p.Pro1812Thr) c.3421C>A (p.Pro1141Thr) c.2971C>A (p.Pro991Thr) c.2179C>A (p.Pro727Thr) | COSMIC |
8 | g.60849094C>G | CA371321139 | CHD7 | c.5344C>G (p.Pro1782Ala) c.1717-13135C>G (n.1717-13135C>G) c.5434C>G (p.Pro1812Ala) c.3421C>G (p.Pro1141Ala) c.2971C>G (p.Pro991Ala) c.2179C>G (p.Pro727Ala) | |
8 | g.60849094C>T | CA371321140 | CHD7 | c.5344C>T (p.Pro1782Ser) c.1717-13135C>T (n.1717-13135C>T) c.5434C>T (p.Pro1812Ser) c.3421C>T (p.Pro1141Ser) c.2971C>T (p.Pro991Ser) c.2179C>T (p.Pro727Ser) | |
8 | g.60849095del | CA2573053042 | CHD7 | c.5345del (p.Pro1782LeufsTer14) c.1717-13134del (n.1717-13134del) c.5435del (p.Pro1812LeufsTer14) c.3422del (p.Pro1141LeufsTer14) c.2972del (p.Pro991LeufsTer14) c.2180del (p.Pro727LeufsTer14) | ClinVar dbSNP |
8 | g.60849095C>A | CA371321144 | CHD7 | c.5345C>A (p.Pro1782His) c.1717-13134C>A (n.1717-13134C>A) c.5435C>A (p.Pro1812His) c.3422C>A (p.Pro1141His) c.2972C>A (p.Pro991His) c.2180C>A (p.Pro727His) | |
8 | g.60849095C= | CA1788134750 | CHD7 | c.5345C= (p.Pro1782=) c.1717-13134C= (n.1717-13134C=) c.5435C= (p.Pro1812=) c.3422C= (p.Pro1141=) c.2972C= (p.Pro991=) c.2180C= (p.Pro727=) | |
8 | g.60849095C>G | CA371321142 | CHD7 | c.5345C>G (p.Pro1782Arg) c.1717-13134C>G (n.1717-13134C>G) c.5435C>G (p.Pro1812Arg) c.3422C>G (p.Pro1141Arg) c.2972C>G (p.Pro991Arg) c.2180C>G (p.Pro727Arg) | |
8 | g.60849095C>T | CA177352607 | CHD7 | c.5345C>T (p.Pro1782Leu) c.1717-13134C>T (n.1717-13134C>T) c.5435C>T (p.Pro1812Leu) c.3422C>T (p.Pro1141Leu) c.2972C>T (p.Pro991Leu) c.2180C>T (p.Pro727Leu) | ClinVar dbSNP |
8 | g.60849096T>A | CA460848451 | CHD7 | c.5346T>A (p.Pro1782=) c.1717-13133T>A (n.1717-13133T>A) c.5436T>A (p.Pro1812=) c.3423T>A (p.Pro1141=) c.2973T>A (p.Pro991=) c.2181T>A (p.Pro727=) | |
8 | g.60849096T>C | CA460848453 | CHD7 | c.5346T>C (p.Pro1782=) c.1717-13133T>C (n.1717-13133T>C) c.5436T>C (p.Pro1812=) c.3423T>C (p.Pro1141=) c.2973T>C (p.Pro991=) c.2181T>C (p.Pro727=) | |
8 | g.60849096T>G | CA460848452 | CHD7 | c.5346T>G (p.Pro1782=) c.1717-13133T>G (n.1717-13133T>G) c.5436T>G (p.Pro1812=) c.3423T>G (p.Pro1141=) c.2973T>G (p.Pro991=) c.2181T>G (p.Pro727=) | |
8 | g.60849097G>A | CA371321145 | CHD7 | c.5347G>A (p.Ala1783Thr) c.1717-13132G>A (n.1717-13132G>A) c.5437G>A (p.Ala1813Thr) c.3424G>A (p.Ala1142Thr) c.2974G>A (p.Ala992Thr) c.2182G>A (p.Ala728Thr) | gnomAD v4 |
8 | g.60849097G>C | CA371321147 | CHD7 | c.5347G>C (p.Ala1783Pro) c.1717-13132G>C (n.1717-13132G>C) c.5437G>C (p.Ala1813Pro) c.3424G>C (p.Ala1142Pro) c.2974G>C (p.Ala992Pro) c.2182G>C (p.Ala728Pro) | |
8 | g.60849097G>T | CA371321149 | CHD7 | c.5347G>T (p.Ala1783Ser) c.1717-13132G>T (n.1717-13132G>T) c.5437G>T (p.Ala1813Ser) c.3424G>T (p.Ala1142Ser) c.2974G>T (p.Ala992Ser) c.2182G>T (p.Ala728Ser) | |
8 | g.60849098C>A | CA371321151 | CHD7 | c.5348C>A (p.Ala1783Glu) c.1717-13131C>A (n.1717-13131C>A) c.5438C>A (p.Ala1813Glu) c.3425C>A (p.Ala1142Glu) c.2975C>A (p.Ala992Glu) c.2183C>A (p.Ala728Glu) | gnomAD v4 |
8 | g.60849098C>G | CA371321152 | CHD7 | c.5348C>G (p.Ala1783Gly) c.1717-13131C>G (n.1717-13131C>G) c.5438C>G (p.Ala1813Gly) c.3425C>G (p.Ala1142Gly) c.2975C>G (p.Ala992Gly) c.2183C>G (p.Ala728Gly) | |
8 | g.60849098C>T | CA371321153 | CHD7 | c.5348C>T (p.Ala1783Val) c.1717-13131C>T (n.1717-13131C>T) c.5438C>T (p.Ala1813Val) c.3425C>T (p.Ala1142Val) c.2975C>T (p.Ala992Val) c.2183C>T (p.Ala728Val) | gnomAD v4 |
8 | g.60849099A>C | CA460848454 | CHD7 | c.5349A>C (p.Ala1783=) c.1717-13130A>C (n.1717-13130A>C) c.5439A>C (p.Ala1813=) c.3426A>C (p.Ala1142=) c.2976A>C (p.Ala992=) c.2184A>C (p.Ala728=) | |
8 | g.60849099A>G | CA460848455 | CHD7 | c.5349A>G (p.Ala1783=) c.1717-13130A>G (n.1717-13130A>G) c.5439A>G (p.Ala1813=) c.3426A>G (p.Ala1142=) c.2976A>G (p.Ala992=) c.2184A>G (p.Ala728=) | |
8 | g.60849099A>T | CA460848456 | CHD7 | c.5349A>T (p.Ala1783=) c.1717-13130A>T (n.1717-13130A>T) c.5439A>T (p.Ala1813=) c.3426A>T (p.Ala1142=) c.2976A>T (p.Ala992=) c.2184A>T (p.Ala728=) | |
8 | g.60849100G>A | CA371321155 | CHD7 | c.5350G>A (p.Asp1784Asn) c.1717-13129G>A (n.1717-13129G>A) c.5440G>A (p.Asp1814Asn) c.3427G>A (p.Asp1143Asn) c.2977G>A (p.Asp993Asn) c.2185G>A (p.Asp729Asn) | |
8 | g.60849100G>C | CA371321157 | CHD7 | c.5350G>C (p.Asp1784His) c.1717-13129G>C (n.1717-13129G>C) c.5440G>C (p.Asp1814His) c.3427G>C (p.Asp1143His) c.2977G>C (p.Asp993His) c.2185G>C (p.Asp729His) | dbSNP gnomAD v2 |
8 | g.60849100G= | CA1788134760 | CHD7 | c.5350G= (p.Asp1784=) c.1717-13129G= (n.1717-13129G=) c.5440G= (p.Asp1814=) c.3427G= (p.Asp1143=) c.2977G= (p.Asp993=) c.2185G= (p.Asp729=) | |
8 | g.60849100G>T | CA371321158 | CHD7 | c.5350G>T (p.Asp1784Tyr) c.1717-13129G>T (n.1717-13129G>T) c.5440G>T (p.Asp1814Tyr) c.3427G>T (p.Asp1143Tyr) c.2977G>T (p.Asp993Tyr) c.2185G>T (p.Asp729Tyr) | |
8 | g.60849101A= | CA1788134764 | CHD7 | c.5351A= (p.Asp1784=) c.1717-13128A= (n.1717-13128A=) c.5441A= (p.Asp1814=) c.3428A= (p.Asp1143=) c.2978A= (p.Asp993=) c.2186A= (p.Asp729=) | |
8 | g.60849101A>C | CA371321160 | CHD7 | c.5351A>C (p.Asp1784Ala) c.1717-13128A>C (n.1717-13128A>C) c.5441A>C (p.Asp1814Ala) c.3428A>C (p.Asp1143Ala) c.2978A>C (p.Asp993Ala) c.2186A>C (p.Asp729Ala) | dbSNP |
8 | g.60849101A>G | CA371321161 | CHD7 | c.5351A>G (p.Asp1784Gly) c.1717-13128A>G (n.1717-13128A>G) c.5441A>G (p.Asp1814Gly) c.3428A>G (p.Asp1143Gly) c.2978A>G (p.Asp993Gly) c.2186A>G (p.Asp729Gly) | |
8 | g.60849101A>T | CA371321162 | CHD7 | c.5351A>T (p.Asp1784Val) c.1717-13128A>T (n.1717-13128A>T) c.5441A>T (p.Asp1814Val) c.3428A>T (p.Asp1143Val) c.2978A>T (p.Asp993Val) c.2186A>T (p.Asp729Val) | |
8 | g.60849102T>A | CA371321165 | CHD7 | c.5352T>A (p.Asp1784Glu) c.1717-13127T>A (n.1717-13127T>A) c.5442T>A (p.Asp1814Glu) c.3429T>A (p.Asp1143Glu) c.2979T>A (p.Asp993Glu) c.2187T>A (p.Asp729Glu) | dbSNP |
8 | g.60849102T>C | CA460848457 | CHD7 | c.5352T>C (p.Asp1784=) c.1717-13127T>C (n.1717-13127T>C) c.5442T>C (p.Asp1814=) c.3429T>C (p.Asp1143=) c.2979T>C (p.Asp993=) c.2187T>C (p.Asp729=) | |
8 | g.60849102T>G | CA371321164 | CHD7 | c.5352T>G (p.Asp1784Glu) c.1717-13127T>G (n.1717-13127T>G) c.5442T>G (p.Asp1814Glu) c.3429T>G (p.Asp1143Glu) c.2979T>G (p.Asp993Glu) c.2187T>G (p.Asp729Glu) | |
8 | g.60849102T= | CA1788134769 | CHD7 | c.5352T= (p.Asp1784=) c.1717-13127T= (n.1717-13127T=) c.5442T= (p.Asp1814=) c.3429T= (p.Asp1143=) c.2979T= (p.Asp993=) c.2187T= (p.Asp729=) | |
8 | g.60849103T>A | CA371321166 | CHD7 | c.5353T>A (p.Trp1785Arg) c.1717-13126T>A (n.1717-13126T>A) c.5443T>A (p.Trp1815Arg) c.3430T>A (p.Trp1144Arg) c.2980T>A (p.Trp994Arg) c.2188T>A (p.Trp730Arg) | |
8 | g.60849103T>C | CA371321168 | CHD7 | c.5353T>C (p.Trp1785Arg) c.1717-13126T>C (n.1717-13126T>C) c.5443T>C (p.Trp1815Arg) c.3430T>C (p.Trp1144Arg) c.2980T>C (p.Trp994Arg) c.2188T>C (p.Trp730Arg) | |
8 | g.60849103T>G | CA371321169 | CHD7 | c.5353T>G (p.Trp1785Gly) c.1717-13126T>G (n.1717-13126T>G) c.5443T>G (p.Trp1815Gly) c.3430T>G (p.Trp1144Gly) c.2980T>G (p.Trp994Gly) c.2188T>G (p.Trp730Gly) | |
8 | g.60849104G>A | CA371321170 | CHD7 | c.5354G>A (p.Trp1785Ter) c.1717-13125G>A (n.1717-13125G>A) c.5444G>A (p.Trp1815Ter) c.3431G>A (p.Trp1144Ter) c.2981G>A (p.Trp994Ter) c.2189G>A (p.Trp730Ter) | |
8 | g.60849104G>C | CA371321171 | CHD7 | c.5354G>C (p.Trp1785Ser) c.1717-13125G>C (n.1717-13125G>C) c.5444G>C (p.Trp1815Ser) c.3431G>C (p.Trp1144Ser) c.2981G>C (p.Trp994Ser) c.2189G>C (p.Trp730Ser) | |
8 | g.60849104G>T | CA371321172 | CHD7 | c.5354G>T (p.Trp1785Leu) c.1717-13125G>T (n.1717-13125G>T) c.5444G>T (p.Trp1815Leu) c.3431G>T (p.Trp1144Leu) c.2981G>T (p.Trp994Leu) c.2189G>T (p.Trp730Leu) | |
8 | g.60849105G>A | CA371321178 | CHD7 | c.5355G>A (p.Trp1785Ter) c.1717-13124G>A (n.1717-13124G>A) c.5445G>A (p.Trp1815Ter) c.3432G>A (p.Trp1144Ter) c.2982G>A (p.Trp994Ter) c.2190G>A (p.Trp730Ter) | ClinVar dbSNP |
8 | g.60849105G>C | CA371321176 | CHD7 | c.5355G>C (p.Trp1785Cys) c.1717-13124G>C (n.1717-13124G>C) c.5445G>C (p.Trp1815Cys) c.3432G>C (p.Trp1144Cys) c.2982G>C (p.Trp994Cys) c.2190G>C (p.Trp730Cys) | |
8 | g.60849105G= | CA1788134772 | CHD7 | c.5355G= (p.Trp1785=) c.1717-13124G= (n.1717-13124G=) c.5445G= (p.Trp1815=) c.3432G= (p.Trp1144=) c.2982G= (p.Trp994=) c.2190G= (p.Trp730=) | |
8 | g.60849105G>T | CA371321174 | CHD7 | c.5355G>T (p.Trp1785Cys) c.1717-13124G>T (n.1717-13124G>T) c.5445G>T (p.Trp1815Cys) c.3432G>T (p.Trp1144Cys) c.2982G>T (p.Trp994Cys) c.2190G>T (p.Trp730Cys) | |
8 | g.60849106T>A | CA371321179 | CHD7 | c.5356T>A (p.Trp1786Arg) c.1717-13123T>A (n.1717-13123T>A) c.5446T>A (p.Trp1816Arg) c.3433T>A (p.Trp1145Arg) c.2983T>A (p.Trp995Arg) c.2191T>A (p.Trp731Arg) | |
8 | g.60849106T>C | CA371321180 | CHD7 | c.5356T>C (p.Trp1786Arg) c.1717-13123T>C (n.1717-13123T>C) c.5446T>C (p.Trp1816Arg) c.3433T>C (p.Trp1145Arg) c.2983T>C (p.Trp995Arg) c.2191T>C (p.Trp731Arg) | ClinVar dbSNP |
8 | g.60849106T>G | CA371321182 | CHD7 | c.5356T>G (p.Trp1786Gly) c.1717-13123T>G (n.1717-13123T>G) c.5446T>G (p.Trp1816Gly) c.3433T>G (p.Trp1145Gly) c.2983T>G (p.Trp995Gly) c.2191T>G (p.Trp731Gly) | |
8 | g.60849107G>A | CA371321184 | CHD7 | c.5357G>A (p.Trp1786Ter) c.1717-13122G>A (n.1717-13122G>A) c.5447G>A (p.Trp1816Ter) c.3434G>A (p.Trp1145Ter) c.2984G>A (p.Trp995Ter) c.2192G>A (p.Trp731Ter) | ClinVar dbSNP |
8 | g.60849107G>C | CA371321185 | CHD7 | c.5357G>C (p.Trp1786Ser) c.1717-13122G>C (n.1717-13122G>C) c.5447G>C (p.Trp1816Ser) c.3434G>C (p.Trp1145Ser) c.2984G>C (p.Trp995Ser) c.2192G>C (p.Trp731Ser) | |
8 | g.60849107G= | CA1788134780 | CHD7 | c.5357G= (p.Trp1786=) c.1717-13122G= (n.1717-13122G=) c.5447G= (p.Trp1816=) c.3434G= (p.Trp1145=) c.2984G= (p.Trp995=) c.2192G= (p.Trp731=) | |
8 | g.60849107G>T | CA371321186 | CHD7 | c.5357G>T (p.Trp1786Leu) c.1717-13122G>T (n.1717-13122G>T) c.5447G>T (p.Trp1816Leu) c.3434G>T (p.Trp1145Leu) c.2984G>T (p.Trp995Leu) c.2192G>T (p.Trp731Leu) | |
8 | g.60849108G>A | CA371321188 | CHD7 | c.5358G>A (p.Trp1786Ter) c.1717-13121G>A (n.1717-13121G>A) c.5448G>A (p.Trp1816Ter) c.3435G>A (p.Trp1145Ter) c.2985G>A (p.Trp995Ter) c.2193G>A (p.Trp731Ter) | |
8 | g.60849108G>C | CA371321191 | CHD7 | c.5358G>C (p.Trp1786Cys) c.1717-13121G>C (n.1717-13121G>C) c.5448G>C (p.Trp1816Cys) c.3435G>C (p.Trp1145Cys) c.2985G>C (p.Trp995Cys) c.2193G>C (p.Trp731Cys) | |
8 | g.60849108G>T | CA371321189 | CHD7 | c.5358G>T (p.Trp1786Cys) c.1717-13121G>T (n.1717-13121G>T) c.5448G>T (p.Trp1816Cys) c.3435G>T (p.Trp1145Cys) c.2985G>T (p.Trp995Cys) c.2193G>T (p.Trp731Cys) | |
8 | g.60849109G>A | CA371321193 | CHD7 | c.5359G>A (p.Asp1787Asn) c.1717-13120G>A (n.1717-13120G>A) c.5449G>A (p.Asp1817Asn) c.3436G>A (p.Asp1146Asn) c.2986G>A (p.Asp996Asn) c.2194G>A (p.Asp732Asn) | COSMIC |
8 | g.60849109G>C | CA371321194 | CHD7 | c.5359G>C (p.Asp1787His) c.1717-13120G>C (n.1717-13120G>C) c.5449G>C (p.Asp1817His) c.3436G>C (p.Asp1146His) c.2986G>C (p.Asp996His) c.2194G>C (p.Asp732His) | |
8 | g.60849109G>T | CA371321195 | CHD7 | c.5359G>T (p.Asp1787Tyr) c.1717-13120G>T (n.1717-13120G>T) c.5449G>T (p.Asp1817Tyr) c.3436G>T (p.Asp1146Tyr) c.2986G>T (p.Asp996Tyr) c.2194G>T (p.Asp732Tyr) | |
8 | g.60849110A= | CA1788134787 | CHD7 | c.5360A= (p.Asp1787=) c.1717-13119A= (n.1717-13119A=) c.5450A= (p.Asp1817=) c.3437A= (p.Asp1146=) c.2987A= (p.Asp996=) c.2195A= (p.Asp732=) | |
8 | g.60849110A>C | CA371321197 | CHD7 | c.5360A>C (p.Asp1787Ala) c.1717-13119A>C (n.1717-13119A>C) c.5450A>C (p.Asp1817Ala) c.3437A>C (p.Asp1146Ala) c.2987A>C (p.Asp996Ala) c.2195A>C (p.Asp732Ala) | ClinVar dbSNP |
8 | g.60849110A>G | CA371321199 | CHD7 | c.5360A>G (p.Asp1787Gly) c.1717-13119A>G (n.1717-13119A>G) c.5450A>G (p.Asp1817Gly) c.3437A>G (p.Asp1146Gly) c.2987A>G (p.Asp996Gly) c.2195A>G (p.Asp732Gly) | |
8 | g.60849110A>T | CA371321200 | CHD7 | c.5360A>T (p.Asp1787Val) c.1717-13119A>T (n.1717-13119A>T) c.5450A>T (p.Asp1817Val) c.3437A>T (p.Asp1146Val) c.2987A>T (p.Asp996Val) c.2195A>T (p.Asp732Val) | gnomAD v4 |
8 | g.60849111T>A | CA371321202 | CHD7 | c.5361T>A (p.Asp1787Glu) c.1717-13118T>A (n.1717-13118T>A) c.5451T>A (p.Asp1817Glu) c.3438T>A (p.Asp1146Glu) c.2988T>A (p.Asp996Glu) c.2196T>A (p.Asp732Glu) | gnomAD v4 |
8 | g.60849111T>C | CA460848458 | CHD7 | c.5361T>C (p.Asp1787=) c.1717-13118T>C (n.1717-13118T>C) c.5451T>C (p.Asp1817=) c.3438T>C (p.Asp1146=) c.2988T>C (p.Asp996=) c.2196T>C (p.Asp732=) | |
8 | g.60849111T>G | CA371321203 | CHD7 | c.5361T>G (p.Asp1787Glu) c.1717-13118T>G (n.1717-13118T>G) c.5451T>G (p.Asp1817Glu) c.3438T>G (p.Asp1146Glu) c.2988T>G (p.Asp996Glu) c.2196T>G (p.Asp732Glu) | |
8 | g.60849112A>C | CA371321205 | CHD7 | c.5362A>C (p.Lys1788Gln) c.1717-13117A>C (n.1717-13117A>C) c.5452A>C (p.Lys1818Gln) c.3439A>C (p.Lys1147Gln) c.2989A>C (p.Lys997Gln) c.2197A>C (p.Lys733Gln) | |
8 | g.60849112A>G | CA371321206 | CHD7 | c.5362A>G (p.Lys1788Glu) c.1717-13117A>G (n.1717-13117A>G) c.5452A>G (p.Lys1818Glu) c.3439A>G (p.Lys1147Glu) c.2989A>G (p.Lys997Glu) c.2197A>G (p.Lys733Glu) | |
8 | g.60849112A>T | CA371321208 | CHD7 | c.5362A>T (p.Lys1788Ter) c.1717-13117A>T (n.1717-13117A>T) c.5452A>T (p.Lys1818Ter) c.3439A>T (p.Lys1147Ter) c.2989A>T (p.Lys997Ter) c.2197A>T (p.Lys733Ter) | |
8 | g.60849113A>C | CA371321209 | CHD7 | c.5363A>C (p.Lys1788Thr) c.1717-13116A>C (n.1717-13116A>C) c.5453A>C (p.Lys1818Thr) c.3440A>C (p.Lys1147Thr) c.2990A>C (p.Lys997Thr) c.2198A>C (p.Lys733Thr) | |
8 | g.60849113A>G | CA371321212 | CHD7 | c.5363A>G (p.Lys1788Arg) c.1717-13116A>G (n.1717-13116A>G) c.5453A>G (p.Lys1818Arg) c.3440A>G (p.Lys1147Arg) c.2990A>G (p.Lys997Arg) c.2198A>G (p.Lys733Arg) | |
8 | g.60849113A>T | CA371321211 | CHD7 | c.5363A>T (p.Lys1788Met) c.1717-13116A>T (n.1717-13116A>T) c.5453A>T (p.Lys1818Met) c.3440A>T (p.Lys1147Met) c.2990A>T (p.Lys997Met) c.2198A>T (p.Lys733Met) | |
8 | g.60849114G>A | CA460848459 | CHD7 | c.5364G>A (p.Lys1788=) c.1717-13115G>A (n.1717-13115G>A) c.5454G>A (p.Lys1818=) c.3441G>A (p.Lys1147=) c.2991G>A (p.Lys997=) c.2199G>A (p.Lys733=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849114G>C | CA371321214 | CHD7 | c.5364G>C (p.Lys1788Asn) c.1717-13115G>C (n.1717-13115G>C) c.5454G>C (p.Lys1818Asn) c.3441G>C (p.Lys1147Asn) c.2991G>C (p.Lys997Asn) c.2199G>C (p.Lys733Asn) | |
8 | g.60849114G= | CA1788134792 | CHD7 | c.5364G= (p.Lys1788=) c.1717-13115G= (n.1717-13115G=) c.5454G= (p.Lys1818=) c.3441G= (p.Lys1147=) c.2991G= (p.Lys997=) c.2199G= (p.Lys733=) | |
8 | g.60849114G>T | CA371321215 | CHD7 | c.5364G>T (p.Lys1788Asn) c.1717-13115G>T (n.1717-13115G>T) c.5454G>T (p.Lys1818Asn) c.3441G>T (p.Lys1147Asn) c.2991G>T (p.Lys997Asn) c.2199G>T (p.Lys733Asn) | |
8 | g.60849115G>A | CA371321216 | CHD7 | c.5365G>A (p.Glu1789Lys) c.1717-13114G>A (n.1717-13114G>A) c.5455G>A (p.Glu1819Lys) c.3442G>A (p.Glu1148Lys) c.2992G>A (p.Glu998Lys) c.2200G>A (p.Glu734Lys) | |
8 | g.60849115G>C | CA371321218 | CHD7 | c.5365G>C (p.Glu1789Gln) c.1717-13114G>C (n.1717-13114G>C) c.5455G>C (p.Glu1819Gln) c.3442G>C (p.Glu1148Gln) c.2992G>C (p.Glu998Gln) c.2200G>C (p.Glu734Gln) | |
8 | g.60849115G>T | CA371321219 | CHD7 | c.5365G>T (p.Glu1789Ter) c.1717-13114G>T (n.1717-13114G>T) c.5455G>T (p.Glu1819Ter) c.3442G>T (p.Glu1148Ter) c.2992G>T (p.Glu998Ter) c.2200G>T (p.Glu734Ter) | |
8 | g.60849116A= | CA1788134797 | CHD7 | c.5366A= (p.Glu1789=) c.1717-13113A= (n.1717-13113A=) c.5456A= (p.Glu1819=) c.3443A= (p.Glu1148=) c.2993A= (p.Glu998=) c.2201A= (p.Glu734=) | |
8 | g.60849116A>C | CA371321221 | CHD7 | c.5366A>C (p.Glu1789Ala) c.1717-13113A>C (n.1717-13113A>C) c.5456A>C (p.Glu1819Ala) c.3443A>C (p.Glu1148Ala) c.2993A>C (p.Glu998Ala) c.2201A>C (p.Glu734Ala) | |
8 | g.60849116A>G | CA4760344 | CHD7 | c.5366A>G (p.Glu1789Gly) c.1717-13113A>G (n.1717-13113A>G) c.5456A>G (p.Glu1819Gly) c.3443A>G (p.Glu1148Gly) c.2993A>G (p.Glu998Gly) c.2201A>G (p.Glu734Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60849116A>T | CA371321223 | CHD7 | c.5366A>T (p.Glu1789Val) c.1717-13113A>T (n.1717-13113A>T) c.5456A>T (p.Glu1819Val) c.3443A>T (p.Glu1148Val) c.2993A>T (p.Glu998Val) c.2201A>T (p.Glu734Val) | |
8 | g.60849117A= | CA1788134804 | CHD7 | c.5367A= (p.Glu1789=) c.1717-13112A= (n.1717-13112A=) c.5457A= (p.Glu1819=) c.3444A= (p.Glu1148=) c.2994A= (p.Glu998=) c.2202A= (p.Glu734=) | |
8 | g.60849117A>C | CA371321225 | CHD7 | c.5367A>C (p.Glu1789Asp) c.1717-13112A>C (n.1717-13112A>C) c.5457A>C (p.Glu1819Asp) c.3444A>C (p.Glu1148Asp) c.2994A>C (p.Glu998Asp) c.2202A>C (p.Glu734Asp) | |
8 | g.60849117A>G | CA460848460 | CHD7 | c.5367A>G (p.Glu1789=) c.1717-13112A>G (n.1717-13112A>G) c.5457A>G (p.Glu1819=) c.3444A>G (p.Glu1148=) c.2994A>G (p.Glu998=) c.2202A>G (p.Glu734=) | gnomAD v4 |
8 | g.60849117A>T | CA371321226 | CHD7 | c.5367A>T (p.Glu1789Asp) c.1717-13112A>T (n.1717-13112A>T) c.5457A>T (p.Glu1819Asp) c.3444A>T (p.Glu1148Asp) c.2994A>T (p.Glu998Asp) c.2202A>T (p.Glu734Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849118G>A | CA4760345 | CHD7 | c.5368G>A (p.Ala1790Thr) c.1717-13111G>A (n.1717-13111G>A) c.5458G>A (p.Ala1820Thr) c.3445G>A (p.Ala1149Thr) c.2995G>A (p.Ala999Thr) c.2203G>A (p.Ala735Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849118G>C | CA371321229 | CHD7 | c.5368G>C (p.Ala1790Pro) c.1717-13111G>C (n.1717-13111G>C) c.5458G>C (p.Ala1820Pro) c.3445G>C (p.Ala1149Pro) c.2995G>C (p.Ala999Pro) c.2203G>C (p.Ala735Pro) | |
8 | g.60849118G= | CA1788134809 | CHD7 | c.5368G= (p.Ala1790=) c.1717-13111G= (n.1717-13111G=) c.5458G= (p.Ala1820=) c.3445G= (p.Ala1149=) c.2995G= (p.Ala999=) c.2203G= (p.Ala735=) | |
8 | g.60849118G>T | CA371321230 | CHD7 | c.5368G>T (p.Ala1790Ser) c.1717-13111G>T (n.1717-13111G>T) c.5458G>T (p.Ala1820Ser) c.3445G>T (p.Ala1149Ser) c.2995G>T (p.Ala999Ser) c.2203G>T (p.Ala735Ser) | |
8 | g.60849119C>A | CA371321234 | CHD7 | c.5369C>A (p.Ala1790Glu) c.1717-13110C>A (n.1717-13110C>A) c.5459C>A (p.Ala1820Glu) c.3446C>A (p.Ala1149Glu) c.2996C>A (p.Ala999Glu) c.2204C>A (p.Ala735Glu) | |
8 | g.60849119C>G | CA371321232 | CHD7 | c.5369C>G (p.Ala1790Gly) c.1717-13110C>G (n.1717-13110C>G) c.5459C>G (p.Ala1820Gly) c.3446C>G (p.Ala1149Gly) c.2996C>G (p.Ala999Gly) c.2204C>G (p.Ala735Gly) | |
8 | g.60849119C>T | CA371321233 | CHD7 | c.5369C>T (p.Ala1790Val) c.1717-13110C>T (n.1717-13110C>T) c.5459C>T (p.Ala1820Val) c.3446C>T (p.Ala1149Val) c.2996C>T (p.Ala999Val) c.2204C>T (p.Ala735Val) | gnomAD v4 |
8 | g.60849120A>C | CA460848461 | CHD7 | c.5370A>C (p.Ala1790=) c.1717-13109A>C (n.1717-13109A>C) c.5460A>C (p.Ala1820=) c.3447A>C (p.Ala1149=) c.2997A>C (p.Ala999=) c.2205A>C (p.Ala735=) | |
8 | g.60849120A>G | CA460848462 | CHD7 | c.5370A>G (p.Ala1790=) c.1717-13109A>G (n.1717-13109A>G) c.5460A>G (p.Ala1820=) c.3447A>G (p.Ala1149=) c.2997A>G (p.Ala999=) c.2205A>G (p.Ala735=) | gnomAD v4 |
8 | g.60849120A>T | CA460848463 | CHD7 | c.5370A>T (p.Ala1790=) c.1717-13109A>T (n.1717-13109A>T) c.5460A>T (p.Ala1820=) c.3447A>T (p.Ala1149=) c.2997A>T (p.Ala999=) c.2205A>T (p.Ala735=) | |
8 | g.60849121G>A | CA371321237 | CHD7 | c.5371G>A (p.Asp1791Asn) c.1717-13108G>A (n.1717-13108G>A) c.5461G>A (p.Asp1821Asn) c.3448G>A (p.Asp1150Asn) c.2998G>A (p.Asp1000Asn) c.2206G>A (p.Asp736Asn) | ClinVar dbSNP |
8 | g.60849121G>C | CA371321238 | CHD7 | c.5371G>C (p.Asp1791His) c.1717-13108G>C (n.1717-13108G>C) c.5461G>C (p.Asp1821His) c.3448G>C (p.Asp1150His) c.2998G>C (p.Asp1000His) c.2206G>C (p.Asp736His) | |
8 | g.60849121G= | CA1788134814 | CHD7 | c.5371G= (p.Asp1791=) c.1717-13108G= (n.1717-13108G=) c.5461G= (p.Asp1821=) c.3448G= (p.Asp1150=) c.2998G= (p.Asp1000=) c.2206G= (p.Asp736=) | |
8 | g.60849121G>T | CA371321240 | CHD7 | c.5371G>T (p.Asp1791Tyr) c.1717-13108G>T (n.1717-13108G>T) c.5461G>T (p.Asp1821Tyr) c.3448G>T (p.Asp1150Tyr) c.2998G>T (p.Asp1000Tyr) c.2206G>T (p.Asp736Tyr) | |
8 | g.60849122A>C | CA371321241 | CHD7 | c.5372A>C (p.Asp1791Ala) c.1717-13107A>C (n.1717-13107A>C) c.5462A>C (p.Asp1821Ala) c.3449A>C (p.Asp1150Ala) c.2999A>C (p.Asp1000Ala) c.2207A>C (p.Asp736Ala) | |
8 | g.60849122A>G | CA371321242 | CHD7 | c.5372A>G (p.Asp1791Gly) c.1717-13107A>G (n.1717-13107A>G) c.5462A>G (p.Asp1821Gly) c.3449A>G (p.Asp1150Gly) c.2999A>G (p.Asp1000Gly) c.2207A>G (p.Asp736Gly) | |
8 | g.60849122A>T | CA371321243 | CHD7 | c.5372A>T (p.Asp1791Val) c.1717-13107A>T (n.1717-13107A>T) c.5462A>T (p.Asp1821Val) c.3449A>T (p.Asp1150Val) c.2999A>T (p.Asp1000Val) c.2207A>T (p.Asp736Val) | |
8 | g.60849123C>A | CA371321244 | CHD7 | c.5373C>A (p.Asp1791Glu) c.1717-13106C>A (n.1717-13106C>A) c.5463C>A (p.Asp1821Glu) c.3450C>A (p.Asp1150Glu) c.3000C>A (p.Asp1000Glu) c.2208C>A (p.Asp736Glu) | |
8 | g.60849123C>G | CA371321246 | CHD7 | c.5373C>G (p.Asp1791Glu) c.1717-13106C>G (n.1717-13106C>G) c.5463C>G (p.Asp1821Glu) c.3450C>G (p.Asp1150Glu) c.3000C>G (p.Asp1000Glu) c.2208C>G (p.Asp736Glu) | |
8 | g.60849123C>T | CA460848464 | CHD7 | c.5373C>T (p.Asp1791=) c.1717-13106C>T (n.1717-13106C>T) c.5463C>T (p.Asp1821=) c.3450C>T (p.Asp1150=) c.3000C>T (p.Asp1000=) c.2208C>T (p.Asp736=) | |
8 | g.60849124A>C | CA371321248 | CHD7 | c.5374A>C (p.Lys1792Gln) c.1717-13105A>C (n.1717-13105A>C) c.5464A>C (p.Lys1822Gln) c.3451A>C (p.Lys1151Gln) c.3001A>C (p.Lys1001Gln) c.2209A>C (p.Lys737Gln) | |
8 | g.60849124A>G | CA371321249 | CHD7 | c.5374A>G (p.Lys1792Glu) c.1717-13105A>G (n.1717-13105A>G) c.5464A>G (p.Lys1822Glu) c.3451A>G (p.Lys1151Glu) c.3001A>G (p.Lys1001Glu) c.2209A>G (p.Lys737Glu) | |
8 | g.60849124A>T | CA371321250 | CHD7 | c.5374A>T (p.Lys1792Ter) c.1717-13105A>T (n.1717-13105A>T) c.5464A>T (p.Lys1822Ter) c.3451A>T (p.Lys1151Ter) c.3001A>T (p.Lys1001Ter) c.2209A>T (p.Lys737Ter) | |
8 | g.60849125A= | CA1788134822 | CHD7 | c.5375A= (p.Lys1792=) c.1717-13104A= (n.1717-13104A=) c.5465A= (p.Lys1822=) c.3452A= (p.Lys1151=) c.3002A= (p.Lys1001=) c.2210A= (p.Lys737=) | |
8 | g.60849125A>C | CA371321254 | CHD7 | c.5375A>C (p.Lys1792Thr) c.1717-13104A>C (n.1717-13104A>C) c.5465A>C (p.Lys1822Thr) c.3452A>C (p.Lys1151Thr) c.3002A>C (p.Lys1001Thr) c.2210A>C (p.Lys737Thr) | |
8 | g.60849125A>G | CA371321255 | CHD7 | c.5375A>G (p.Lys1792Arg) c.1717-13104A>G (n.1717-13104A>G) c.5465A>G (p.Lys1822Arg) c.3452A>G (p.Lys1151Arg) c.3002A>G (p.Lys1001Arg) c.2210A>G (p.Lys737Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60849125A>T | CA371321252 | CHD7 | c.5375A>T (p.Lys1792Ile) c.1717-13104A>T (n.1717-13104A>T) c.5465A>T (p.Lys1822Ile) c.3452A>T (p.Lys1151Ile) c.3002A>T (p.Lys1001Ile) c.2210A>T (p.Lys737Ile) | |
8 | g.60849126A>C | CA371321257 | CHD7 | c.5376A>C (p.Lys1792Asn) c.1717-13103A>C (n.1717-13103A>C) c.5466A>C (p.Lys1822Asn) c.3453A>C (p.Lys1151Asn) c.3003A>C (p.Lys1001Asn) c.2211A>C (p.Lys737Asn) | |
8 | g.60849126A>G | CA460848465 | CHD7 | c.5376A>G (p.Lys1792=) c.1717-13103A>G (n.1717-13103A>G) c.5466A>G (p.Lys1822=) c.3453A>G (p.Lys1151=) c.3003A>G (p.Lys1001=) c.2211A>G (p.Lys737=) | |
8 | g.60849126A>T | CA371321258 | CHD7 | c.5376A>T (p.Lys1792Asn) c.1717-13103A>T (n.1717-13103A>T) c.5466A>T (p.Lys1822Asn) c.3453A>T (p.Lys1151Asn) c.3003A>T (p.Lys1001Asn) c.2211A>T (p.Lys737Asn) | |
8 | g.60849127T>A | CA371321260 | CHD7 | c.5377T>A (p.Ser1793Thr) c.1717-13102T>A (n.1717-13102T>A) c.5467T>A (p.Ser1823Thr) c.3454T>A (p.Ser1152Thr) c.3004T>A (p.Ser1002Thr) c.2212T>A (p.Ser738Thr) | |
8 | g.60849127T>C | CA371321262 | CHD7 | c.5377T>C (p.Ser1793Pro) c.1717-13102T>C (n.1717-13102T>C) c.5467T>C (p.Ser1823Pro) c.3454T>C (p.Ser1152Pro) c.3004T>C (p.Ser1002Pro) c.2212T>C (p.Ser738Pro) | |
8 | g.60849127T>G | CA371321263 | CHD7 | c.5377T>G (p.Ser1793Ala) c.1717-13102T>G (n.1717-13102T>G) c.5467T>G (p.Ser1823Ala) c.3454T>G (p.Ser1152Ala) c.3004T>G (p.Ser1002Ala) c.2212T>G (p.Ser738Ala) | gnomAD v4 |
8 | g.60849128C>A | CA371321265 | CHD7 | c.5378C>A (p.Ser1793Tyr) c.1717-13101C>A (n.1717-13101C>A) c.5468C>A (p.Ser1823Tyr) c.3455C>A (p.Ser1152Tyr) c.3005C>A (p.Ser1002Tyr) c.2213C>A (p.Ser738Tyr) | |
8 | g.60849128C>G | CA371321266 | CHD7 | c.5378C>G (p.Ser1793Cys) c.1717-13101C>G (n.1717-13101C>G) c.5468C>G (p.Ser1823Cys) c.3455C>G (p.Ser1152Cys) c.3005C>G (p.Ser1002Cys) c.2213C>G (p.Ser738Cys) | gnomAD v4 |
8 | g.60849128C>T | CA371321268 | CHD7 | c.5378C>T (p.Ser1793Phe) c.1717-13101C>T (n.1717-13101C>T) c.5468C>T (p.Ser1823Phe) c.3455C>T (p.Ser1152Phe) c.3005C>T (p.Ser1002Phe) c.2213C>T (p.Ser738Phe) | |
8 | g.60849129C>A | CA460848466 | CHD7 | c.5379C>A (p.Ser1793=) c.1717-13100C>A (n.1717-13100C>A) c.5469C>A (p.Ser1823=) c.3456C>A (p.Ser1152=) c.3006C>A (p.Ser1002=) c.2214C>A (p.Ser738=) | |
8 | g.60849129C>G | CA460848467 | CHD7 | c.5379C>G (p.Ser1793=) c.1717-13100C>G (n.1717-13100C>G) c.5469C>G (p.Ser1823=) c.3456C>G (p.Ser1152=) c.3006C>G (p.Ser1002=) c.2214C>G (p.Ser738=) | |
8 | g.60849129C>T | CA460848468 | CHD7 | c.5379C>T (p.Ser1793=) c.1717-13100C>T (n.1717-13100C>T) c.5469C>T (p.Ser1823=) c.3456C>T (p.Ser1152=) c.3006C>T (p.Ser1002=) c.2214C>T (p.Ser738=) | ClinVar gnomAD v4 |
8 | g.60849130C>A | CA371321270 | CHD7 | c.5380C>A (p.Leu1794Ile) c.1717-13099C>A (n.1717-13099C>A) c.5470C>A (p.Leu1824Ile) c.3457C>A (p.Leu1153Ile) c.3007C>A (p.Leu1003Ile) c.2215C>A (p.Leu739Ile) | COSMIC |
8 | g.60849130C= | CA1788134829 | CHD7 | c.5380C= (p.Leu1794=) c.1717-13099C= (n.1717-13099C=) c.5470C= (p.Leu1824=) c.3457C= (p.Leu1153=) c.3007C= (p.Leu1003=) c.2215C= (p.Leu739=) | |
8 | g.60849130C>G | CA371321272 | CHD7 | c.5380C>G (p.Leu1794Val) c.1717-13099C>G (n.1717-13099C>G) c.5470C>G (p.Leu1824Val) c.3457C>G (p.Leu1153Val) c.3007C>G (p.Leu1003Val) c.2215C>G (p.Leu739Val) | ClinVar dbSNP |
8 | g.60849130C>T | CA371321273 | CHD7 | c.5380C>T (p.Leu1794Phe) c.1717-13099C>T (n.1717-13099C>T) c.5470C>T (p.Leu1824Phe) c.3457C>T (p.Leu1153Phe) c.3007C>T (p.Leu1003Phe) c.2215C>T (p.Leu739Phe) | gnomAD v4 |
8 | g.60849131T>A | CA371321275 | CHD7 | c.5381T>A (p.Leu1794His) c.1717-13098T>A (n.1717-13098T>A) c.5471T>A (p.Leu1824His) c.3458T>A (p.Leu1153His) c.3008T>A (p.Leu1003His) c.2216T>A (p.Leu739His) | |
8 | g.60849131T>C | CA16618673 | CHD7 | c.5381T>C (p.Leu1794Pro) c.1717-13098T>C (n.1717-13098T>C) c.5471T>C (p.Leu1824Pro) c.3458T>C (p.Leu1153Pro) c.3008T>C (p.Leu1003Pro) c.2216T>C (p.Leu739Pro) | ClinVar dbSNP |
8 | g.60849131T>G | CA371321277 | CHD7 | c.5381T>G (p.Leu1794Arg) c.1717-13098T>G (n.1717-13098T>G) c.5471T>G (p.Leu1824Arg) c.3458T>G (p.Leu1153Arg) c.3008T>G (p.Leu1003Arg) c.2216T>G (p.Leu739Arg) | |
8 | g.60849131T= | CA1788134839 | CHD7 | c.5381T= (p.Leu1794=) c.1717-13098T= (n.1717-13098T=) c.5471T= (p.Leu1824=) c.3458T= (p.Leu1153=) c.3008T= (p.Leu1003=) c.2216T= (p.Leu739=) | |
8 | g.60849132C>A | CA460848469 | CHD7 | c.5382C>A (p.Leu1794=) c.1717-13097C>A (n.1717-13097C>A) c.5472C>A (p.Leu1824=) c.3459C>A (p.Leu1153=) c.3009C>A (p.Leu1003=) c.2217C>A (p.Leu739=) | |
8 | g.60849132C= | CA1788134846 | CHD7 | c.5382C= (p.Leu1794=) c.1717-13097C= (n.1717-13097C=) c.5472C= (p.Leu1824=) c.3459C= (p.Leu1153=) c.3009C= (p.Leu1003=) c.2217C= (p.Leu739=) | |
8 | g.60849132C>G | CA460848470 | CHD7 | c.5382C>G (p.Leu1794=) c.1717-13097C>G (n.1717-13097C>G) c.5472C>G (p.Leu1824=) c.3459C>G (p.Leu1153=) c.3009C>G (p.Leu1003=) c.2217C>G (p.Leu739=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849132C>T | CA4760346 | CHD7 | c.5382C>T (p.Leu1794=) c.1717-13097C>T (n.1717-13097C>T) c.5472C>T (p.Leu1824=) c.3459C>T (p.Leu1153=) c.3009C>T (p.Leu1003=) c.2217C>T (p.Leu739=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849133T>A | CA371321280 | CHD7 | c.5383T>A (p.Leu1795Ile) c.1717-13096T>A (n.1717-13096T>A) c.5473T>A (p.Leu1825Ile) c.3460T>A (p.Leu1154Ile) c.3010T>A (p.Leu1004Ile) c.2218T>A (p.Leu740Ile) | |
8 | g.60849133T>C | CA460848471 | CHD7 | c.5383T>C (p.Leu1795=) c.1717-13096T>C (n.1717-13096T>C) c.5473T>C (p.Leu1825=) c.3460T>C (p.Leu1154=) c.3010T>C (p.Leu1004=) c.2218T>C (p.Leu740=) | |
8 | g.60849133T>G | CA371321281 | CHD7 | c.5383T>G (p.Leu1795Val) c.1717-13096T>G (n.1717-13096T>G) c.5473T>G (p.Leu1825Val) c.3460T>G (p.Leu1154Val) c.3010T>G (p.Leu1004Val) c.2218T>G (p.Leu740Val) | |
8 | g.60849134T>A | CA371321283 | CHD7 | c.5384T>A (p.Leu1795Ter) c.1717-13095T>A (n.1717-13095T>A) c.5474T>A (p.Leu1825Ter) c.3461T>A (p.Leu1154Ter) c.3011T>A (p.Leu1004Ter) c.2219T>A (p.Leu740Ter) | |
8 | g.60849134T>C | CA371321285 | CHD7 | c.5384T>C (p.Leu1795Ser) c.1717-13095T>C (n.1717-13095T>C) c.5474T>C (p.Leu1825Ser) c.3461T>C (p.Leu1154Ser) c.3011T>C (p.Leu1004Ser) c.2219T>C (p.Leu740Ser) | ClinVar |
8 | g.60849134T>G | CA371321286 | CHD7 | c.5384T>G (p.Leu1795Ter) c.1717-13095T>G (n.1717-13095T>G) c.5474T>G (p.Leu1825Ter) c.3461T>G (p.Leu1154Ter) c.3011T>G (p.Leu1004Ter) c.2219T>G (p.Leu740Ter) | |
8 | g.60849135A>C | CA371321287 | CHD7 | c.5385A>C (p.Leu1795Phe) c.1717-13094A>C (n.1717-13094A>C) c.5475A>C (p.Leu1825Phe) c.3462A>C (p.Leu1154Phe) c.3012A>C (p.Leu1004Phe) c.2220A>C (p.Leu740Phe) | |
8 | g.60849135A>G | CA460848472 | CHD7 | c.5385A>G (p.Leu1795=) c.1717-13094A>G (n.1717-13094A>G) c.5475A>G (p.Leu1825=) c.3462A>G (p.Leu1154=) c.3012A>G (p.Leu1004=) c.2220A>G (p.Leu740=) | |
8 | g.60849135A>T | CA371321288 | CHD7 | c.5385A>T (p.Leu1795Phe) c.1717-13094A>T (n.1717-13094A>T) c.5475A>T (p.Leu1825Phe) c.3462A>T (p.Leu1154Phe) c.3012A>T (p.Leu1004Phe) c.2220A>T (p.Leu740Phe) | |
8 | g.60849136A>C | CA371321290 | CHD7 | c.5386A>C (p.Ile1796Leu) c.1717-13093A>C (n.1717-13093A>C) c.5476A>C (p.Ile1826Leu) c.3463A>C (p.Ile1155Leu) c.3013A>C (p.Ile1005Leu) c.2221A>C (p.Ile741Leu) | |
8 | g.60849136A>G | CA371321291 | CHD7 | c.5386A>G (p.Ile1796Val) c.1717-13093A>G (n.1717-13093A>G) c.5476A>G (p.Ile1826Val) c.3463A>G (p.Ile1155Val) c.3013A>G (p.Ile1005Val) c.2221A>G (p.Ile741Val) | |
8 | g.60849136A>T | CA371321292 | CHD7 | c.5386A>T (p.Ile1796Phe) c.1717-13093A>T (n.1717-13093A>T) c.5476A>T (p.Ile1826Phe) c.3463A>T (p.Ile1155Phe) c.3013A>T (p.Ile1005Phe) c.2221A>T (p.Ile741Phe) | |
8 | g.60849137T>A | CA371321294 | CHD7 | c.5387T>A (p.Ile1796Asn) c.1717-13092T>A (n.1717-13092T>A) c.5477T>A (p.Ile1826Asn) c.3464T>A (p.Ile1155Asn) c.3014T>A (p.Ile1005Asn) c.2222T>A (p.Ile741Asn) | ClinVar dbSNP |
8 | g.60849137T>C | CA371321296 | CHD7 | c.5387T>C (p.Ile1796Thr) c.1717-13092T>C (n.1717-13092T>C) c.5477T>C (p.Ile1826Thr) c.3464T>C (p.Ile1155Thr) c.3014T>C (p.Ile1005Thr) c.2222T>C (p.Ile741Thr) | ClinVar gnomAD v4 |
8 | g.60849137T>G | CA371321298 | CHD7 | c.5387T>G (p.Ile1796Ser) c.1717-13092T>G (n.1717-13092T>G) c.5477T>G (p.Ile1826Ser) c.3464T>G (p.Ile1155Ser) c.3014T>G (p.Ile1005Ser) c.2222T>G (p.Ile741Ser) | |
8 | g.60849137T= | CA1788134853 | CHD7 | c.5387T= (p.Ile1796=) c.1717-13092T= (n.1717-13092T=) c.5477T= (p.Ile1826=) c.3464T= (p.Ile1155=) c.3014T= (p.Ile1005=) c.2222T= (p.Ile741=) | |
8 | g.60849138T>A | CA460848473 | CHD7 | c.5388T>A (p.Ile1796=) c.1717-13091T>A (n.1717-13091T>A) c.5478T>A (p.Ile1826=) c.3465T>A (p.Ile1155=) c.3015T>A (p.Ile1005=) c.2223T>A (p.Ile741=) | |
8 | g.60849138T>C | CA460848474 | CHD7 | c.5388T>C (p.Ile1796=) c.1717-13091T>C (n.1717-13091T>C) c.5478T>C (p.Ile1826=) c.3465T>C (p.Ile1155=) c.3015T>C (p.Ile1005=) c.2223T>C (p.Ile741=) | |
8 | g.60849138T>G | CA371321299 | CHD7 | c.5388T>G (p.Ile1796Met) c.1717-13091T>G (n.1717-13091T>G) c.5478T>G (p.Ile1826Met) c.3465T>G (p.Ile1155Met) c.3015T>G (p.Ile1005Met) c.2223T>G (p.Ile741Met) | |
8 | g.60849139G>A | CA371321302 | CHD7 | c.5389G>A (p.Gly1797Arg) c.1717-13090G>A (n.1717-13090G>A) c.5479G>A (p.Gly1827Arg) c.3466G>A (p.Gly1156Arg) c.3016G>A (p.Gly1006Arg) c.2224G>A (p.Gly742Arg) | ClinVar dbSNP |
8 | g.60849139G>C | CA371321304 | CHD7 | c.5389G>C (p.Gly1797Arg) c.1717-13090G>C (n.1717-13090G>C) c.5479G>C (p.Gly1827Arg) c.3466G>C (p.Gly1156Arg) c.3016G>C (p.Gly1006Arg) c.2224G>C (p.Gly742Arg) | |
8 | g.60849139G= | CA1788134860 | CHD7 | c.5389G= (p.Gly1797=) c.1717-13090G= (n.1717-13090G=) c.5479G= (p.Gly1827=) c.3466G= (p.Gly1156=) c.3016G= (p.Gly1006=) c.2224G= (p.Gly742=) | |
8 | g.60849139G>T | CA371321300 | CHD7 | c.5389G>T (p.Gly1797Ter) c.1717-13090G>T (n.1717-13090G>T) c.5479G>T (p.Gly1827Ter) c.3466G>T (p.Gly1156Ter) c.3016G>T (p.Gly1006Ter) c.2224G>T (p.Gly742Ter) | gnomAD v4 |
8 | g.60849140G>A | CA371321305 | CHD7 | c.5390G>A (p.Gly1797Glu) c.1717-13089G>A (n.1717-13089G>A) c.5480G>A (p.Gly1827Glu) c.3467G>A (p.Gly1156Glu) c.3017G>A (p.Gly1006Glu) c.2225G>A (p.Gly742Glu) | |
8 | g.60849140G>C | CA4760347 | CHD7 | c.5390G>C (p.Gly1797Ala) c.1717-13089G>C (n.1717-13089G>C) c.5480G>C (p.Gly1827Ala) c.3467G>C (p.Gly1156Ala) c.3017G>C (p.Gly1006Ala) c.2225G>C (p.Gly742Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849140G= | CA1788134870 | CHD7 | c.5390G= (p.Gly1797=) c.1717-13089G= (n.1717-13089G=) c.5480G= (p.Gly1827=) c.3467G= (p.Gly1156=) c.3017G= (p.Gly1006=) c.2225G= (p.Gly742=) | |
8 | g.60849140G>T | CA371321306 | CHD7 | c.5390G>T (p.Gly1797Val) c.1717-13089G>T (n.1717-13089G>T) c.5480G>T (p.Gly1827Val) c.3467G>T (p.Gly1156Val) c.3017G>T (p.Gly1006Val) c.2225G>T (p.Gly742Val) | |
8 | g.60849141A= | CA1788134873 | CHD7 | c.5391A= (p.Gly1797=) c.1717-13088A= (n.1717-13088A=) c.5481A= (p.Gly1827=) c.3468A= (p.Gly1156=) c.3018A= (p.Gly1006=) c.2226A= (p.Gly742=) | |
8 | g.60849141A>C | CA460848475 | CHD7 | c.5391A>C (p.Gly1797=) c.1717-13088A>C (n.1717-13088A>C) c.5481A>C (p.Gly1827=) c.3468A>C (p.Gly1156=) c.3018A>C (p.Gly1006=) c.2226A>C (p.Gly742=) | |
8 | g.60849141A>G | CA460848476 | CHD7 | c.5391A>G (p.Gly1797=) c.1717-13088A>G (n.1717-13088A>G) c.5481A>G (p.Gly1827=) c.3468A>G (p.Gly1156=) c.3018A>G (p.Gly1006=) c.2226A>G (p.Gly742=) | dbSNP |
8 | g.60849141A>T | CA460848477 | CHD7 | c.5391A>T (p.Gly1797=) c.1717-13088A>T (n.1717-13088A>T) c.5481A>T (p.Gly1827=) c.3468A>T (p.Gly1156=) c.3018A>T (p.Gly1006=) c.2226A>T (p.Gly742=) | |
8 | g.60849142G>A | CA371321308 | CHD7 | c.5392G>A (p.Val1798Met) c.1717-13087G>A (n.1717-13087G>A) c.5482G>A (p.Val1828Met) c.3469G>A (p.Val1157Met) c.3019G>A (p.Val1007Met) c.2227G>A (p.Val743Met) | |
8 | g.60849142G>C | CA371321311 | CHD7 | c.5392G>C (p.Val1798Leu) c.1717-13087G>C (n.1717-13087G>C) c.5482G>C (p.Val1828Leu) c.3469G>C (p.Val1157Leu) c.3019G>C (p.Val1007Leu) c.2227G>C (p.Val743Leu) | |
8 | g.60849142G>T | CA371321310 | CHD7 | c.5392G>T (p.Val1798Leu) c.1717-13087G>T (n.1717-13087G>T) c.5482G>T (p.Val1828Leu) c.3469G>T (p.Val1157Leu) c.3019G>T (p.Val1007Leu) c.2227G>T (p.Val743Leu) | |
8 | g.60849143T>A | CA371321313 | CHD7 | c.5393T>A (p.Val1798Glu) c.1717-13086T>A (n.1717-13086T>A) c.5483T>A (p.Val1828Glu) c.3470T>A (p.Val1157Glu) c.3020T>A (p.Val1007Glu) c.2228T>A (p.Val743Glu) | ClinVar dbSNP |
8 | g.60849143T>C | CA371321316 | CHD7 | c.5393T>C (p.Val1798Ala) c.1717-13086T>C (n.1717-13086T>C) c.5483T>C (p.Val1828Ala) c.3470T>C (p.Val1157Ala) c.3020T>C (p.Val1007Ala) c.2228T>C (p.Val743Ala) | ClinVar dbSNP |
8 | g.60849143T>G | CA371321314 | CHD7 | c.5393T>G (p.Val1798Gly) c.1717-13086T>G (n.1717-13086T>G) c.5483T>G (p.Val1828Gly) c.3470T>G (p.Val1157Gly) c.3020T>G (p.Val1007Gly) c.2228T>G (p.Val743Gly) | |
8 | g.60849143T= | CA1788134877 | CHD7 | c.5393T= (p.Val1798=) c.1717-13086T= (n.1717-13086T=) c.5483T= (p.Val1828=) c.3470T= (p.Val1157=) c.3020T= (p.Val1007=) c.2228T= (p.Val743=) | |
8 | g.60849144G>A | CA460848480 | CHD7 | c.5394G>A (p.Val1798=) c.1717-13085G>A (n.1717-13085G>A) c.5484G>A (p.Val1828=) c.3471G>A (p.Val1157=) c.3021G>A (p.Val1007=) c.2229G>A (p.Val743=) | gnomAD v4 |
8 | g.60849144G>C | CA460848479 | CHD7 | c.5394G>C (p.Val1798=) c.1717-13085G>C (n.1717-13085G>C) c.5484G>C (p.Val1828=) c.3471G>C (p.Val1157=) c.3021G>C (p.Val1007=) c.2229G>C (p.Val743=) | |
8 | g.60849144G>T | CA460848478 | CHD7 | c.5394G>T (p.Val1798=) c.1717-13085G>T (n.1717-13085G>T) c.5484G>T (p.Val1828=) c.3471G>T (p.Val1157=) c.3021G>T (p.Val1007=) c.2229G>T (p.Val743=) | |
8 | g.60849145T>A | CA371321317 | CHD7 | c.5395T>A (p.Phe1799Ile) c.1717-13084T>A (n.1717-13084T>A) c.5485T>A (p.Phe1829Ile) c.3472T>A (p.Phe1158Ile) c.3022T>A (p.Phe1008Ile) c.2230T>A (p.Phe744Ile) | |
8 | g.60849145T>C | CA371321319 | CHD7 | c.5395T>C (p.Phe1799Leu) c.1717-13084T>C (n.1717-13084T>C) c.5485T>C (p.Phe1829Leu) c.3472T>C (p.Phe1158Leu) c.3022T>C (p.Phe1008Leu) c.2230T>C (p.Phe744Leu) | |
8 | g.60849145T>G | CA371321320 | CHD7 | c.5395T>G (p.Phe1799Val) c.1717-13084T>G (n.1717-13084T>G) c.5485T>G (p.Phe1829Val) c.3472T>G (p.Phe1158Val) c.3022T>G (p.Phe1008Val) c.2230T>G (p.Phe744Val) | |
8 | g.60849146T>A | CA371321321 | CHD7 | c.5396T>A (p.Phe1799Tyr) c.1717-13083T>A (n.1717-13083T>A) c.5486T>A (p.Phe1829Tyr) c.3473T>A (p.Phe1158Tyr) c.3023T>A (p.Phe1008Tyr) c.2231T>A (p.Phe744Tyr) | COSMIC |
8 | g.60849146T>C | CA371321322 | CHD7 | c.5396T>C (p.Phe1799Ser) c.1717-13083T>C (n.1717-13083T>C) c.5486T>C (p.Phe1829Ser) c.3473T>C (p.Phe1158Ser) c.3023T>C (p.Phe1008Ser) c.2231T>C (p.Phe744Ser) | |
8 | g.60849146T>G | CA371321323 | CHD7 | c.5396T>G (p.Phe1799Cys) c.1717-13083T>G (n.1717-13083T>G) c.5486T>G (p.Phe1829Cys) c.3473T>G (p.Phe1158Cys) c.3023T>G (p.Phe1008Cys) c.2231T>G (p.Phe744Cys) | |
8 | g.60849147del | CA2831039721 | CHD7 | c.5397del (p.Phe1799LeufsTer?) c.1717-13082del (n.1717-13082del) c.5487del (p.Phe1829LeufsTer?) c.3474del (p.Phe1158LeufsTer?) c.3024del (p.Phe1008LeufsTer?) c.2232del (p.Phe744LeufsTer?) | |
8 | g.60849147C>A | CA371321324 | CHD7 | c.5397C>A (p.Phe1799Leu) c.1717-13082C>A (n.1717-13082C>A) c.5487C>A (p.Phe1829Leu) c.3474C>A (p.Phe1158Leu) c.3024C>A (p.Phe1008Leu) c.2232C>A (p.Phe744Leu) | gnomAD v4 |
8 | g.60849147C>G | CA371321325 | CHD7 | c.5397C>G (p.Phe1799Leu) c.1717-13082C>G (n.1717-13082C>G) c.5487C>G (p.Phe1829Leu) c.3474C>G (p.Phe1158Leu) c.3024C>G (p.Phe1008Leu) c.2232C>G (p.Phe744Leu) | |
8 | g.60849147C>T | CA460848481 | CHD7 | c.5397C>T (p.Phe1799=) c.1717-13082C>T (n.1717-13082C>T) c.5487C>T (p.Phe1829=) c.3474C>T (p.Phe1158=) c.3024C>T (p.Phe1008=) c.2232C>T (p.Phe744=) | |
8 | g.60849148A>C | CA371321327 | CHD7 | c.5398A>C (p.Lys1800Gln) c.1717-13081A>C (n.1717-13081A>C) c.5488A>C (p.Lys1830Gln) c.3475A>C (p.Lys1159Gln) c.3025A>C (p.Lys1009Gln) c.2233A>C (p.Lys745Gln) | |
8 | g.60849148A>G | CA371321329 | CHD7 | c.5398A>G (p.Lys1800Glu) c.1717-13081A>G (n.1717-13081A>G) c.5488A>G (p.Lys1830Glu) c.3475A>G (p.Lys1159Glu) c.3025A>G (p.Lys1009Glu) c.2233A>G (p.Lys745Glu) | |
8 | g.60849148A>T | CA371321331 | CHD7 | c.5398A>T (p.Lys1800Ter) c.1717-13081A>T (n.1717-13081A>T) c.5488A>T (p.Lys1830Ter) c.3475A>T (p.Lys1159Ter) c.3025A>T (p.Lys1009Ter) c.2233A>T (p.Lys745Ter) | |
8 | g.60849149A= | CA1788134880 | CHD7 | c.5399A= (p.Lys1800=) c.1717-13080A= (n.1717-13080A=) c.5489A= (p.Lys1830=) c.3476A= (p.Lys1159=) c.3026A= (p.Lys1009=) c.2234A= (p.Lys745=) | |
8 | g.60849149A>C | CA371321335 | CHD7 | c.5399A>C (p.Lys1800Thr) c.1717-13080A>C (n.1717-13080A>C) c.5489A>C (p.Lys1830Thr) c.3476A>C (p.Lys1159Thr) c.3026A>C (p.Lys1009Thr) c.2234A>C (p.Lys745Thr) | ClinVar dbSNP |
8 | g.60849149A>G | CA371321332 | CHD7 | c.5399A>G (p.Lys1800Arg) c.1717-13080A>G (n.1717-13080A>G) c.5489A>G (p.Lys1830Arg) c.3476A>G (p.Lys1159Arg) c.3026A>G (p.Lys1009Arg) c.2234A>G (p.Lys745Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60849149A>T | CA371321333 | CHD7 | c.5399A>T (p.Lys1800Ile) c.1717-13080A>T (n.1717-13080A>T) c.5489A>T (p.Lys1830Ile) c.3476A>T (p.Lys1159Ile) c.3026A>T (p.Lys1009Ile) c.2234A>T (p.Lys745Ile) | |
8 | g.60849150A>C | CA371321336 | CHD7 | c.5400A>C (p.Lys1800Asn) c.1717-13079A>C (n.1717-13079A>C) c.5490A>C (p.Lys1830Asn) c.3477A>C (p.Lys1159Asn) c.3027A>C (p.Lys1009Asn) c.2235A>C (p.Lys745Asn) | |
8 | g.60849150A>G | CA460848482 | CHD7 | c.5400A>G (p.Lys1800=) c.1717-13079A>G (n.1717-13079A>G) c.5490A>G (p.Lys1830=) c.3477A>G (p.Lys1159=) c.3027A>G (p.Lys1009=) c.2235A>G (p.Lys745=) | |
8 | g.60849150A>T | CA371321338 | CHD7 | c.5400A>T (p.Lys1800Asn) c.1717-13079A>T (n.1717-13079A>T) c.5490A>T (p.Lys1830Asn) c.3477A>T (p.Lys1159Asn) c.3027A>T (p.Lys1009Asn) c.2235A>T (p.Lys745Asn) | ClinVar |
8 | g.60849151C>A | CA371321340 | CHD7 | c.5401C>A (p.His1801Asn) c.1717-13078C>A (n.1717-13078C>A) c.5491C>A (p.His1831Asn) c.3478C>A (p.His1160Asn) c.3028C>A (p.His1010Asn) c.2236C>A (p.His746Asn) | ClinVar dbSNP gnomAD v4 |
8 | g.60849151C= | CA1788134888 | CHD7 | c.5401C= (p.His1801=) c.1717-13078C= (n.1717-13078C=) c.5491C= (p.His1831=) c.3478C= (p.His1160=) c.3028C= (p.His1010=) c.2236C= (p.His746=) | |
8 | g.60849151C>G | CA371321341 | CHD7 | c.5401C>G (p.His1801Asp) c.1717-13078C>G (n.1717-13078C>G) c.5491C>G (p.His1831Asp) c.3478C>G (p.His1160Asp) c.3028C>G (p.His1010Asp) c.2236C>G (p.His746Asp) | |
8 | g.60849151C>T | CA371321342 | CHD7 | c.5401C>T (p.His1801Tyr) c.1717-13078C>T (n.1717-13078C>T) c.5491C>T (p.His1831Tyr) c.3478C>T (p.His1160Tyr) c.3028C>T (p.His1010Tyr) c.2236C>T (p.His746Tyr) | ClinVar dbSNP |
8 | g.60849152A>C | CA371321344 | CHD7 | c.5402A>C (p.His1801Pro) c.1717-13077A>C (n.1717-13077A>C) c.5492A>C (p.His1831Pro) c.3479A>C (p.His1160Pro) c.3029A>C (p.His1010Pro) c.2237A>C (p.His746Pro) | |
8 | g.60849152A>G | CA371321345 | CHD7 | c.5402A>G (p.His1801Arg) c.1717-13077A>G (n.1717-13077A>G) c.5492A>G (p.His1831Arg) c.3479A>G (p.His1160Arg) c.3029A>G (p.His1010Arg) c.2237A>G (p.His746Arg) | |
8 | g.60849152A>T | CA371321347 | CHD7 | c.5402A>T (p.His1801Leu) c.1717-13077A>T (n.1717-13077A>T) c.5492A>T (p.His1831Leu) c.3479A>T (p.His1160Leu) c.3029A>T (p.His1010Leu) c.2237A>T (p.His746Leu) | |
8 | g.60849153T>A | CA371321348 | CHD7 | c.5403T>A (p.His1801Gln) c.1717-13076T>A (n.1717-13076T>A) c.5493T>A (p.His1831Gln) c.3480T>A (p.His1160Gln) c.3030T>A (p.His1010Gln) c.2238T>A (p.His746Gln) | |
8 | g.60849153T>C | CA460848483 | CHD7 | c.5403T>C (p.His1801=) c.1717-13076T>C (n.1717-13076T>C) c.5493T>C (p.His1831=) c.3480T>C (p.His1160=) c.3030T>C (p.His1010=) c.2238T>C (p.His746=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60849153T>G | CA371321349 | CHD7 | c.5403T>G (p.His1801Gln) c.1717-13076T>G (n.1717-13076T>G) c.5493T>G (p.His1831Gln) c.3480T>G (p.His1160Gln) c.3030T>G (p.His1010Gln) c.2238T>G (p.His746Gln) | |
8 | g.60849153T= | CA1788134903 | CHD7 | c.5403T= (p.His1801=) c.1717-13076T= (n.1717-13076T=) c.5493T= (p.His1831=) c.3480T= (p.His1160=) c.3030T= (p.His1010=) c.2238T= (p.His746=) | |
8 | g.60849154G>A | CA371321353 | CHD7 | c.5404G>A (p.Gly1802Ser) c.1717-13075G>A (n.1717-13075G>A) c.5494G>A (p.Gly1832Ser) c.3481G>A (p.Gly1161Ser) c.3031G>A (p.Gly1011Ser) c.2239G>A (p.Gly747Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.60849154G>C | CA371321355 | CHD7 | c.5404G>C (p.Gly1802Arg) c.1717-13075G>C (n.1717-13075G>C) c.5494G>C (p.Gly1832Arg) c.3481G>C (p.Gly1161Arg) c.3031G>C (p.Gly1011Arg) c.2239G>C (p.Gly747Arg) | |
8 | g.60849154G= | CA1788134907 | CHD7 | c.5404G= (p.Gly1802=) c.1717-13075G= (n.1717-13075G=) c.5494G= (p.Gly1832=) c.3481G= (p.Gly1161=) c.3031G= (p.Gly1011=) c.2239G= (p.Gly747=) | |
8 | g.60849154G>T | CA371321351 | CHD7 | c.5404G>T (p.Gly1802Cys) c.1717-13075G>T (n.1717-13075G>T) c.5494G>T (p.Gly1832Cys) c.3481G>T (p.Gly1161Cys) c.3031G>T (p.Gly1011Cys) c.2239G>T (p.Gly747Cys) | |
8 | g.60849155G>A | CA371321356 | CHD7 | c.5404+1G>A (n.5404+1G>A) c.1717-13074G>A (n.1717-13074G>A) c.5494+1G>A (n.5494+1G>A) c.3481+1G>A (n.3481+1G>A) c.3031+1G>A (n.3031+1G>A) c.2239+1G>A (n.2239+1G>A) | |
8 | g.60849155G>C | CA371321358 | CHD7 | c.5404+1G>C (n.5404+1G>C) c.1717-13074G>C (n.1717-13074G>C) c.5494+1G>C (n.5494+1G>C) c.3481+1G>C (n.3481+1G>C) c.3031+1G>C (n.3031+1G>C) c.2239+1G>C (n.2239+1G>C) | |
8 | g.60849155G>T | CA371321359 | CHD7 | c.5404+1G>T (n.5404+1G>T) c.1717-13074G>T (n.1717-13074G>T) c.5494+1G>T (n.5494+1G>T) c.3481+1G>T (n.3481+1G>T) c.3031+1G>T (n.3031+1G>T) c.2239+1G>T (n.2239+1G>T) | |
8 | g.60849156T>A | CA371321361 | CHD7 | c.5404+2T>A (n.5404+2T>A) c.1717-13073T>A (n.1717-13073T>A) c.5494+2T>A (n.5494+2T>A) c.3481+2T>A (n.3481+2T>A) c.3031+2T>A (n.3031+2T>A) c.2239+2T>A (n.2239+2T>A) | |
8 | g.60849156T>C | CA371321363 | CHD7 | c.5404+2T>C (n.5404+2T>C) c.1717-13073T>C (n.1717-13073T>C) c.5494+2T>C (n.5494+2T>C) c.3481+2T>C (n.3481+2T>C) c.3031+2T>C (n.3031+2T>C) c.2239+2T>C (n.2239+2T>C) | ClinVar gnomAD v4 |
8 | g.60849156T>G | CA371321364 | CHD7 | c.5404+2T>G (n.5404+2T>G) c.1717-13073T>G (n.1717-13073T>G) c.5494+2T>G (n.5494+2T>G) c.3481+2T>G (n.3481+2T>G) c.3031+2T>G (n.3031+2T>G) c.2239+2T>G (n.2239+2T>G) | |
8 | g.60849159G>A | CA581980893 | CHD7 | c.5404+5G>A (n.5404+5G>A) c.1717-13070G>A (n.1717-13070G>A) c.5494+5G>A (n.5494+5G>A) c.3481+5G>A (n.3481+5G>A) c.3031+5G>A (n.3031+5G>A) c.2239+5G>A (n.2239+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849159G= | CA1788134912 | CHD7 | c.5404+5G= (n.5404+5G=) c.1717-13070G= (n.1717-13070G=) c.5494+5G= (n.5494+5G=) c.3481+5G= (n.3481+5G=) c.3031+5G= (n.3031+5G=) c.2239+5G= (n.2239+5G=) | |
8 | g.60849161G= | CA1788134917 | CHD7 | c.5404+7G= (n.5404+7G=) c.1717-13068G= (n.1717-13068G=) c.5494+7G= (n.5494+7G=) c.3481+7G= (n.3481+7G=) c.3031+7G= (n.3031+7G=) c.2239+7G= (n.2239+7G=) | |
8 | g.60849161G>T | CA4760348 | CHD7 | c.5404+7G>T (n.5404+7G>T) c.1717-13068G>T (n.1717-13068G>T) c.5494+7G>T (n.5494+7G>T) c.3481+7G>T (n.3481+7G>T) c.3031+7G>T (n.3031+7G>T) c.2239+7G>T (n.2239+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849163C>A | CA177352620 | CHD7 | c.5404+9C>A (n.5404+9C>A) c.1717-13066C>A (n.1717-13066C>A) c.5494+9C>A (n.5494+9C>A) c.3481+9C>A (n.3481+9C>A) c.3031+9C>A (n.3031+9C>A) c.2239+9C>A (n.2239+9C>A) | dbSNP gnomAD v4 |
8 | g.60849163C= | CA1788134923 | CHD7 | c.5404+9C= (n.5404+9C=) c.1717-13066C= (n.1717-13066C=) c.5494+9C= (n.5494+9C=) c.3481+9C= (n.3481+9C=) c.3031+9C= (n.3031+9C=) c.2239+9C= (n.2239+9C=) | |
8 | g.60849163C>T | CA4760349 | CHD7 | c.5404+9C>T (n.5404+9C>T) c.1717-13066C>T (n.1717-13066C>T) c.5494+9C>T (n.5494+9C>T) c.3481+9C>T (n.3481+9C>T) c.3031+9C>T (n.3031+9C>T) c.2239+9C>T (n.2239+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849164G>A | CA4760350 | CHD7 | c.5404+10G>A (n.5404+10G>A) c.1717-13065G>A (n.1717-13065G>A) c.5494+10G>A (n.5494+10G>A) c.3481+10G>A (n.3481+10G>A) c.3031+10G>A (n.3031+10G>A) c.2239+10G>A (n.2239+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849164G= | CA1788134927 | CHD7 | c.5404+10G= (n.5404+10G=) c.1717-13065G= (n.1717-13065G=) c.5494+10G= (n.5494+10G=) c.3481+10G= (n.3481+10G=) c.3031+10G= (n.3031+10G=) c.2239+10G= (n.2239+10G=) | |
8 | g.60849167T>C | CA2687402671 | CHD7 | c.5404+13T>C (n.5404+13T>C) c.1717-13062T>C (n.1717-13062T>C) c.5494+13T>C (n.5494+13T>C) c.3481+13T>C (n.3481+13T>C) c.3031+13T>C (n.3031+13T>C) c.2239+13T>C (n.2239+13T>C) | gnomAD v4 |
8 | g.60849168C>A | CA2687402672 | CHD7 | c.5404+14C>A (n.5404+14C>A) c.1717-13061C>A (n.1717-13061C>A) c.5494+14C>A (n.5494+14C>A) c.3481+14C>A (n.3481+14C>A) c.3031+14C>A (n.3031+14C>A) c.2239+14C>A (n.2239+14C>A) | gnomAD v4 |
8 | g.60849168C>T | CA2573143280 | CHD7 | c.5404+14C>T (n.5404+14C>T) c.1717-13061C>T (n.1717-13061C>T) c.5494+14C>T (n.5494+14C>T) c.3481+14C>T (n.3481+14C>T) c.3031+14C>T (n.3031+14C>T) c.2239+14C>T (n.2239+14C>T) | ClinVar dbSNP |
8 | g.60849169T>C | CA1114432548 | CHD7 | c.5404+15T>C (n.5404+15T>C) c.1717-13060T>C (n.1717-13060T>C) c.5494+15T>C (n.5494+15T>C) c.3481+15T>C (n.3481+15T>C) c.3031+15T>C (n.3031+15T>C) c.2239+15T>C (n.2239+15T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60849169T= | CA1788134931 | CHD7 | c.5404+15T= (n.5404+15T=) c.1717-13060T= (n.1717-13060T=) c.5494+15T= (n.5494+15T=) c.3481+15T= (n.3481+15T=) c.3031+15T= (n.3031+15T=) c.2239+15T= (n.2239+15T=) | |
8 | g.60849170G>C | CA2579173744 | CHD7 | c.5404+16G>C (n.5404+16G>C) c.1717-13059G>C (n.1717-13059G>C) c.5494+16G>C (n.5494+16G>C) c.3481+16G>C (n.3481+16G>C) c.3031+16G>C (n.3031+16G>C) c.2239+16G>C (n.2239+16G>C) | gnomAD v4 |
8 | g.60849175A= | CA1788134934 | CHD7 | c.5404+21A= (n.5404+21A=) c.1717-13054A= (n.1717-13054A=) c.5494+21A= (n.5494+21A=) c.3481+21A= (n.3481+21A=) c.3031+21A= (n.3031+21A=) c.2239+21A= (n.2239+21A=) | |
8 | g.60849175A>G | CA4760352 | CHD7 | c.5404+21A>G (n.5404+21A>G) c.1717-13054A>G (n.1717-13054A>G) c.5494+21A>G (n.5494+21A>G) c.3481+21A>G (n.3481+21A>G) c.3031+21A>G (n.3031+21A>G) c.2239+21A>G (n.2239+21A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60849175A>T | CA4760351 | CHD7 | c.5404+21A>T (n.5404+21A>T) c.1717-13054A>T (n.1717-13054A>T) c.5494+21A>T (n.5494+21A>T) c.3481+21A>T (n.3481+21A>T) c.3031+21A>T (n.3031+21A>T) c.2239+21A>T (n.2239+21A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60849176A= | CA1788134936 | CHD7 | c.5404+22A= (n.5404+22A=) c.1717-13053A= (n.1717-13053A=) c.5494+22A= (n.5494+22A=) c.3481+22A= (n.3481+22A=) c.3031+22A= (n.3031+22A=) c.2239+22A= (n.2239+22A=) | |
8 | g.60849176A>G | CA4760353 | CHD7 | c.5404+22A>G (n.5404+22A>G) c.1717-13053A>G (n.1717-13053A>G) c.5494+22A>G (n.5494+22A>G) c.3481+22A>G (n.3481+22A>G) c.3031+22A>G (n.3031+22A>G) c.2239+22A>G (n.2239+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849177T>C | CA2687402673 | CHD7 | c.5404+23T>C (n.5404+23T>C) c.1717-13052T>C (n.1717-13052T>C) c.5494+23T>C (n.5494+23T>C) c.3481+23T>C (n.3481+23T>C) c.3031+23T>C (n.3031+23T>C) c.2239+23T>C (n.2239+23T>C) | gnomAD v4 |
8 | g.60849178A>G | CA2687402674 | CHD7 | c.5404+24A>G (n.5404+24A>G) c.1717-13051A>G (n.1717-13051A>G) c.5494+24A>G (n.5494+24A>G) c.3481+24A>G (n.3481+24A>G) c.3031+24A>G (n.3031+24A>G) c.2239+24A>G (n.2239+24A>G) | gnomAD v4 |
8 | g.60849179C>A | CA2579173745 | CHD7 | c.5404+25C>A (n.5404+25C>A) c.1717-13050C>A (n.1717-13050C>A) c.5494+25C>A (n.5494+25C>A) c.3481+25C>A (n.3481+25C>A) c.3031+25C>A (n.3031+25C>A) c.2239+25C>A (n.2239+25C>A) | gnomAD v4 |
8 | g.60849180A= | CA1788134941 | CHD7 | c.5404+26A= (n.5404+26A=) c.1717-13049A= (n.1717-13049A=) c.5494+26A= (n.5494+26A=) c.3481+26A= (n.3481+26A=) c.3031+26A= (n.3031+26A=) c.2239+26A= (n.2239+26A=) | |
8 | g.60849180A>C | CA581980894 | CHD7 | c.5404+26A>C (n.5404+26A>C) c.1717-13049A>C (n.1717-13049A>C) c.5494+26A>C (n.5494+26A>C) c.3481+26A>C (n.3481+26A>C) c.3031+26A>C (n.3031+26A>C) c.2239+26A>C (n.2239+26A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60849180A>G | CA2717074467 | CHD7 | c.5404+26A>G (n.5404+26A>G) c.1717-13049A>G (n.1717-13049A>G) c.5494+26A>G (n.5494+26A>G) c.3481+26A>G (n.3481+26A>G) c.3031+26A>G (n.3031+26A>G) c.2239+26A>G (n.2239+26A>G) | dbSNP |