Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60865329C>A | CA4761004 | CHD7 | n.1566C>A n.497C>A c.*1449C>A (n.*1449C>A) c.8390C>A (p.Pro2797His) c.2243C>A (p.Pro748His) n.436C>A c.8480C>A (p.Pro2827His) c.8477C>A (p.Pro2826His) c.8258C>A (p.Pro2753His) c.6467C>A (p.Pro2156His) c.6017C>A (p.Pro2006His) c.5225C>A (p.Pro1742His) c.8387C>A (p.Pro2796His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865329C= | CA1788129969 | CHD7 | n.1566C= n.497C= c.*1449C= (n.*1449C=) c.8390C= (p.Pro2797=) c.2243C= (p.Pro748=) n.436C= c.8480C= (p.Pro2827=) c.8477C= (p.Pro2826=) c.8258C= (p.Pro2753=) c.6467C= (p.Pro2156=) c.6017C= (p.Pro2006=) c.5225C= (p.Pro1742=) c.8387C= (p.Pro2796=) | |
8 | g.60865329C>G | CA371308915 | CHD7 | n.1566C>G n.497C>G c.*1449C>G (n.*1449C>G) c.8390C>G (p.Pro2797Arg) c.2243C>G (p.Pro748Arg) n.436C>G c.8480C>G (p.Pro2827Arg) c.8477C>G (p.Pro2826Arg) c.8258C>G (p.Pro2753Arg) c.6467C>G (p.Pro2156Arg) c.6017C>G (p.Pro2006Arg) c.5225C>G (p.Pro1742Arg) c.8387C>G (p.Pro2796Arg) | gnomAD v4 |
8 | g.60865329C>T | CA371308913 | CHD7 | n.1566C>T n.497C>T c.*1449C>T (n.*1449C>T) c.8390C>T (p.Pro2797Leu) c.2243C>T (p.Pro748Leu) n.436C>T c.8480C>T (p.Pro2827Leu) c.8477C>T (p.Pro2826Leu) c.8258C>T (p.Pro2753Leu) c.6467C>T (p.Pro2156Leu) c.6017C>T (p.Pro2006Leu) c.5225C>T (p.Pro1742Leu) c.8387C>T (p.Pro2796Leu) | gnomAD v4 |
8 | g.60865330C>A | CA461105939 | CHD7 | n.1567C>A n.498C>A c.*1450C>A (n.*1450C>A) c.8391C>A (p.Pro2797=) c.2244C>A (p.Pro748=) n.437C>A c.8481C>A (p.Pro2827=) c.8478C>A (p.Pro2826=) c.8259C>A (p.Pro2753=) c.6468C>A (p.Pro2156=) c.6018C>A (p.Pro2006=) c.5226C>A (p.Pro1742=) c.8388C>A (p.Pro2796=) | |
8 | g.60865330C= | CA1788129974 | CHD7 | n.1567C= n.498C= c.*1450C= (n.*1450C=) c.8391C= (p.Pro2797=) c.2244C= (p.Pro748=) n.437C= c.8481C= (p.Pro2827=) c.8478C= (p.Pro2826=) c.8259C= (p.Pro2753=) c.6468C= (p.Pro2156=) c.6018C= (p.Pro2006=) c.5226C= (p.Pro1742=) c.8388C= (p.Pro2796=) | |
8 | g.60865330C>G | CA461105938 | CHD7 | n.1567C>G n.498C>G c.*1450C>G (n.*1450C>G) c.8391C>G (p.Pro2797=) c.2244C>G (p.Pro748=) n.437C>G c.8481C>G (p.Pro2827=) c.8478C>G (p.Pro2826=) c.8259C>G (p.Pro2753=) c.6468C>G (p.Pro2156=) c.6018C>G (p.Pro2006=) c.5226C>G (p.Pro1742=) c.8388C>G (p.Pro2796=) | ClinVar |
8 | g.60865330C>T | CA461105937 | CHD7 | n.1567C>T n.498C>T c.*1450C>T (n.*1450C>T) c.8391C>T (p.Pro2797=) c.2244C>T (p.Pro748=) n.437C>T c.8481C>T (p.Pro2827=) c.8478C>T (p.Pro2826=) c.8259C>T (p.Pro2753=) c.6468C>T (p.Pro2156=) c.6018C>T (p.Pro2006=) c.5226C>T (p.Pro1742=) c.8388C>T (p.Pro2796=) | ClinVar dbSNP gnomAD v2 |
8 | g.60865331C>A | CA371308916 | CHD7 | n.1568C>A n.499C>A c.*1451C>A (n.*1451C>A) c.8392C>A (p.Leu2798Met) c.2245C>A (p.Leu749Met) n.438C>A c.8482C>A (p.Leu2828Met) c.8479C>A (p.Leu2827Met) c.8260C>A (p.Leu2754Met) c.6469C>A (p.Leu2157Met) c.6019C>A (p.Leu2007Met) c.5227C>A (p.Leu1743Met) c.8389C>A (p.Leu2797Met) | |
8 | g.60865331C= | CA1788129980 | CHD7 | n.1568C= n.499C= c.*1451C= (n.*1451C=) c.8392C= (p.Leu2798=) c.2245C= (p.Leu749=) n.438C= c.8482C= (p.Leu2828=) c.8479C= (p.Leu2827=) c.8260C= (p.Leu2754=) c.6469C= (p.Leu2157=) c.6019C= (p.Leu2007=) c.5227C= (p.Leu1743=) c.8389C= (p.Leu2797=) | |
8 | g.60865331C>G | CA371308917 | CHD7 | n.1568C>G n.499C>G c.*1451C>G (n.*1451C>G) c.8392C>G (p.Leu2798Val) c.2245C>G (p.Leu749Val) n.438C>G c.8482C>G (p.Leu2828Val) c.8479C>G (p.Leu2827Val) c.8260C>G (p.Leu2754Val) c.6469C>G (p.Leu2157Val) c.6019C>G (p.Leu2007Val) c.5227C>G (p.Leu1743Val) c.8389C>G (p.Leu2797Val) | |
8 | g.60865331C>T | CA461105940 | CHD7 | n.1568C>T n.499C>T c.*1451C>T (n.*1451C>T) c.8392C>T (p.Leu2798=) c.2245C>T (p.Leu749=) n.438C>T c.8482C>T (p.Leu2828=) c.8479C>T (p.Leu2827=) c.8260C>T (p.Leu2754=) c.6469C>T (p.Leu2157=) c.6019C>T (p.Leu2007=) c.5227C>T (p.Leu1743=) c.8389C>T (p.Leu2797=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865331_60865332delinsCT | CA1788129981 | CHD7 | n.1568_1569delinsCT n.499_500delinsCT c.*1451_*1452delinsCT (n.*1451_*1452delinsCT) c.8392_8393delinsCT (p.Leu2798=) c.2245_2246delinsCT (p.Leu749=) n.438_439delinsCT c.8482_8483delinsCT (p.Leu2828=) c.8479_8480delinsCT (p.Leu2827=) c.8260_8261delinsCT (p.Leu2754=) c.6469_6470delinsCT (p.Leu2157=) c.6019_6020delinsCT (p.Leu2007=) c.5227_5228delinsCT (p.Leu1743=) c.8389_8390delinsCT (p.Leu2797=) | |
8 | g.60865332del | CA1788129983 | CHD7 | n.1569del n.500del c.*1452del (n.*1452del) c.8393del (p.Leu2798ArgfsTer19) c.2246del (p.Leu749ArgfsTer19) n.439del c.8483del (p.Leu2828ArgfsTer19) c.8480del (p.Leu2827ArgfsTer19) c.8261del (p.Leu2754ArgfsTer19) c.6470del (p.Leu2157ArgfsTer19) c.6020del (p.Leu2007ArgfsTer19) c.5228del (p.Leu1743ArgfsTer19) c.8390del (p.Leu2797ArgfsTer19) | dbSNP |
8 | g.60865332T>A | CA371308918 | CHD7 | n.1569T>A n.500T>A c.*1452T>A (n.*1452T>A) c.8393T>A (p.Leu2798Gln) c.2246T>A (p.Leu749Gln) n.439T>A c.8483T>A (p.Leu2828Gln) c.8480T>A (p.Leu2827Gln) c.8261T>A (p.Leu2754Gln) c.6470T>A (p.Leu2157Gln) c.6020T>A (p.Leu2007Gln) c.5228T>A (p.Leu1743Gln) c.8390T>A (p.Leu2797Gln) | |
8 | g.60865332T>C | CA4761005 | CHD7 | n.1569T>C n.500T>C c.*1452T>C (n.*1452T>C) c.8393T>C (p.Leu2798Pro) c.2246T>C (p.Leu749Pro) n.439T>C c.8483T>C (p.Leu2828Pro) c.8480T>C (p.Leu2827Pro) c.8261T>C (p.Leu2754Pro) c.6470T>C (p.Leu2157Pro) c.6020T>C (p.Leu2007Pro) c.5228T>C (p.Leu1743Pro) c.8390T>C (p.Leu2797Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865332T>G | CA371308922 | CHD7 | n.1569T>G n.500T>G c.*1452T>G (n.*1452T>G) c.8393T>G (p.Leu2798Arg) c.2246T>G (p.Leu749Arg) n.439T>G c.8483T>G (p.Leu2828Arg) c.8480T>G (p.Leu2827Arg) c.8261T>G (p.Leu2754Arg) c.6470T>G (p.Leu2157Arg) c.6020T>G (p.Leu2007Arg) c.5228T>G (p.Leu1743Arg) c.8390T>G (p.Leu2797Arg) | |
8 | g.60865332T= | CA1788129984 | CHD7 | n.1569T= n.500T= c.*1452T= (n.*1452T=) c.8393T= (p.Leu2798=) c.2246T= (p.Leu749=) n.439T= c.8483T= (p.Leu2828=) c.8480T= (p.Leu2827=) c.8261T= (p.Leu2754=) c.6470T= (p.Leu2157=) c.6020T= (p.Leu2007=) c.5228T= (p.Leu1743=) c.8390T= (p.Leu2797=) | |
8 | g.60865333G>A | CA461105943 | CHD7 | n.1570G>A n.501G>A c.*1453G>A (n.*1453G>A) c.8394G>A (p.Leu2798=) c.2247G>A (p.Leu749=) n.440G>A c.8484G>A (p.Leu2828=) c.8481G>A (p.Leu2827=) c.8262G>A (p.Leu2754=) c.6471G>A (p.Leu2157=) c.6021G>A (p.Leu2007=) c.5229G>A (p.Leu1743=) c.8391G>A (p.Leu2797=) | |
8 | g.60865333G>C | CA461105942 | CHD7 | n.1570G>C n.501G>C c.*1453G>C (n.*1453G>C) c.8394G>C (p.Leu2798=) c.2247G>C (p.Leu749=) n.440G>C c.8484G>C (p.Leu2828=) c.8481G>C (p.Leu2827=) c.8262G>C (p.Leu2754=) c.6471G>C (p.Leu2157=) c.6021G>C (p.Leu2007=) c.5229G>C (p.Leu1743=) c.8391G>C (p.Leu2797=) | |
8 | g.60865333G>T | CA461105941 | CHD7 | n.1570G>T n.501G>T c.*1453G>T (n.*1453G>T) c.8394G>T (p.Leu2798=) c.2247G>T (p.Leu749=) n.440G>T c.8484G>T (p.Leu2828=) c.8481G>T (p.Leu2827=) c.8262G>T (p.Leu2754=) c.6471G>T (p.Leu2157=) c.6021G>T (p.Leu2007=) c.5229G>T (p.Leu1743=) c.8391G>T (p.Leu2797=) | |
8 | g.60865334A>C | CA371308924 | CHD7 | n.1571A>C n.502A>C c.*1454A>C (n.*1454A>C) c.8395A>C (p.Met2799Leu) c.2248A>C (p.Met750Leu) n.441A>C c.8485A>C (p.Met2829Leu) c.8482A>C (p.Met2828Leu) c.8263A>C (p.Met2755Leu) c.6472A>C (p.Met2158Leu) c.6022A>C (p.Met2008Leu) c.5230A>C (p.Met1744Leu) c.8392A>C (p.Met2798Leu) | |
8 | g.60865334A>G | CA371308926 | CHD7 | n.1571A>G n.502A>G c.*1454A>G (n.*1454A>G) c.8395A>G (p.Met2799Val) c.2248A>G (p.Met750Val) n.441A>G c.8485A>G (p.Met2829Val) c.8482A>G (p.Met2828Val) c.8263A>G (p.Met2755Val) c.6472A>G (p.Met2158Val) c.6022A>G (p.Met2008Val) c.5230A>G (p.Met1744Val) c.8392A>G (p.Met2798Val) | |
8 | g.60865334A>T | CA371308928 | CHD7 | n.1571A>T n.502A>T c.*1454A>T (n.*1454A>T) c.8395A>T (p.Met2799Leu) c.2248A>T (p.Met750Leu) n.441A>T c.8485A>T (p.Met2829Leu) c.8482A>T (p.Met2828Leu) c.8263A>T (p.Met2755Leu) c.6472A>T (p.Met2158Leu) c.6022A>T (p.Met2008Leu) c.5230A>T (p.Met1744Leu) c.8392A>T (p.Met2798Leu) | |
8 | g.60865335T>A | CA371308932 | CHD7 | n.1572T>A n.503T>A c.*1455T>A (n.*1455T>A) c.8396T>A (p.Met2799Lys) c.2249T>A (p.Met750Lys) n.442T>A c.8486T>A (p.Met2829Lys) c.8483T>A (p.Met2828Lys) c.8264T>A (p.Met2755Lys) c.6473T>A (p.Met2158Lys) c.6023T>A (p.Met2008Lys) c.5231T>A (p.Met1744Lys) c.8393T>A (p.Met2798Lys) | gnomAD v4 |
8 | g.60865335T>C | CA371308934 | CHD7 | n.1572T>C n.503T>C c.*1455T>C (n.*1455T>C) c.8396T>C (p.Met2799Thr) c.2249T>C (p.Met750Thr) n.442T>C c.8486T>C (p.Met2829Thr) c.8483T>C (p.Met2828Thr) c.8264T>C (p.Met2755Thr) c.6473T>C (p.Met2158Thr) c.6023T>C (p.Met2008Thr) c.5231T>C (p.Met1744Thr) c.8393T>C (p.Met2798Thr) | |
8 | g.60865335T>G | CA371308936 | CHD7 | n.1572T>G n.503T>G c.*1455T>G (n.*1455T>G) c.8396T>G (p.Met2799Arg) c.2249T>G (p.Met750Arg) n.442T>G c.8486T>G (p.Met2829Arg) c.8483T>G (p.Met2828Arg) c.8264T>G (p.Met2755Arg) c.6473T>G (p.Met2158Arg) c.6023T>G (p.Met2008Arg) c.5231T>G (p.Met1744Arg) c.8393T>G (p.Met2798Arg) | |
8 | g.60865336G>A | CA371308938 | CHD7 | n.1573G>A n.504G>A c.*1456G>A (n.*1456G>A) c.8397G>A (p.Met2799Ile) c.2250G>A (p.Met750Ile) n.443G>A c.8487G>A (p.Met2829Ile) c.8484G>A (p.Met2828Ile) c.8265G>A (p.Met2755Ile) c.6474G>A (p.Met2158Ile) c.6024G>A (p.Met2008Ile) c.5232G>A (p.Met1744Ile) c.8394G>A (p.Met2798Ile) | COSMIC |
8 | g.60865336G>C | CA371308940 | CHD7 | n.1573G>C n.504G>C c.*1456G>C (n.*1456G>C) c.8397G>C (p.Met2799Ile) c.2250G>C (p.Met750Ile) n.443G>C c.8487G>C (p.Met2829Ile) c.8484G>C (p.Met2828Ile) c.8265G>C (p.Met2755Ile) c.6474G>C (p.Met2158Ile) c.6024G>C (p.Met2008Ile) c.5232G>C (p.Met1744Ile) c.8394G>C (p.Met2798Ile) | |
8 | g.60865336G>T | CA371308943 | CHD7 | n.1573G>T n.504G>T c.*1456G>T (n.*1456G>T) c.8397G>T (p.Met2799Ile) c.2250G>T (p.Met750Ile) n.443G>T c.8487G>T (p.Met2829Ile) c.8484G>T (p.Met2828Ile) c.8265G>T (p.Met2755Ile) c.6474G>T (p.Met2158Ile) c.6024G>T (p.Met2008Ile) c.5232G>T (p.Met1744Ile) c.8394G>T (p.Met2798Ile) | |
8 | g.60865336dup | CA2780535750 | CHD7 | n.1573dup n.504dup c.*1456dup (n.*1456dup) c.8397dup (p.Leu2800AlafsTer19) c.2250dup (p.Leu751AlafsTer19) n.443dup c.8487dup (p.Leu2830AlafsTer19) c.8484dup (p.Leu2829AlafsTer19) c.8265dup (p.Leu2756AlafsTer19) c.6474dup (p.Leu2159AlafsTer19) c.6024dup (p.Leu2009AlafsTer19) c.5232dup (p.Leu1745AlafsTer19) c.8394dup (p.Leu2799AlafsTer19) | |
8 | g.60865337C>A | CA371308947 | CHD7 | n.1574C>A n.505C>A c.*1457C>A (n.*1457C>A) c.8398C>A (p.Leu2800Met) c.2251C>A (p.Leu751Met) n.444C>A c.8488C>A (p.Leu2830Met) c.8485C>A (p.Leu2829Met) c.8266C>A (p.Leu2756Met) c.6475C>A (p.Leu2159Met) c.6025C>A (p.Leu2009Met) c.5233C>A (p.Leu1745Met) c.8395C>A (p.Leu2799Met) | |
8 | g.60865337C= | CA1788129988 | CHD7 | n.1574C= n.505C= c.*1457C= (n.*1457C=) c.8398C= (p.Leu2800=) c.2251C= (p.Leu751=) n.444C= c.8488C= (p.Leu2830=) c.8485C= (p.Leu2829=) c.8266C= (p.Leu2756=) c.6475C= (p.Leu2159=) c.6025C= (p.Leu2009=) c.5233C= (p.Leu1745=) c.8395C= (p.Leu2799=) | |
8 | g.60865337C>G | CA371308946 | CHD7 | n.1574C>G n.505C>G c.*1457C>G (n.*1457C>G) c.8398C>G (p.Leu2800Val) c.2251C>G (p.Leu751Val) n.444C>G c.8488C>G (p.Leu2830Val) c.8485C>G (p.Leu2829Val) c.8266C>G (p.Leu2756Val) c.6475C>G (p.Leu2159Val) c.6025C>G (p.Leu2009Val) c.5233C>G (p.Leu1745Val) c.8395C>G (p.Leu2799Val) | |
8 | g.60865337C>T | CA461105944 | CHD7 | n.1574C>T n.505C>T c.*1457C>T (n.*1457C>T) c.8398C>T (p.Leu2800=) c.2251C>T (p.Leu751=) n.444C>T c.8488C>T (p.Leu2830=) c.8485C>T (p.Leu2829=) c.8266C>T (p.Leu2756=) c.6475C>T (p.Leu2159=) c.6025C>T (p.Leu2009=) c.5233C>T (p.Leu1745=) c.8395C>T (p.Leu2799=) | dbSNP |
8 | g.60865338T>A | CA371308948 | CHD7 | n.1575T>A n.506T>A c.*1458T>A (n.*1458T>A) c.8399T>A (p.Leu2800Gln) c.2252T>A (p.Leu751Gln) n.445T>A c.8489T>A (p.Leu2830Gln) c.8486T>A (p.Leu2829Gln) c.8267T>A (p.Leu2756Gln) c.6476T>A (p.Leu2159Gln) c.6026T>A (p.Leu2009Gln) c.5234T>A (p.Leu1745Gln) c.8396T>A (p.Leu2799Gln) | |
8 | g.60865338T>C | CA371308950 | CHD7 | n.1575T>C n.506T>C c.*1458T>C (n.*1458T>C) c.8399T>C (p.Leu2800Pro) c.2252T>C (p.Leu751Pro) n.445T>C c.8489T>C (p.Leu2830Pro) c.8486T>C (p.Leu2829Pro) c.8267T>C (p.Leu2756Pro) c.6476T>C (p.Leu2159Pro) c.6026T>C (p.Leu2009Pro) c.5234T>C (p.Leu1745Pro) c.8396T>C (p.Leu2799Pro) | gnomAD v4 |
8 | g.60865338T>G | CA371308951 | CHD7 | n.1575T>G n.506T>G c.*1458T>G (n.*1458T>G) c.8399T>G (p.Leu2800Arg) c.2252T>G (p.Leu751Arg) n.445T>G c.8489T>G (p.Leu2830Arg) c.8486T>G (p.Leu2829Arg) c.8267T>G (p.Leu2756Arg) c.6476T>G (p.Leu2159Arg) c.6026T>G (p.Leu2009Arg) c.5234T>G (p.Leu1745Arg) c.8396T>G (p.Leu2799Arg) | |
8 | g.60865339G>A | CA461105945 | CHD7 | n.1576G>A n.507G>A c.*1459G>A (n.*1459G>A) c.8400G>A (p.Leu2800=) c.2253G>A (p.Leu751=) n.446G>A c.8490G>A (p.Leu2830=) c.8487G>A (p.Leu2829=) c.8268G>A (p.Leu2756=) c.6477G>A (p.Leu2159=) c.6027G>A (p.Leu2009=) c.5235G>A (p.Leu1745=) c.8397G>A (p.Leu2799=) | gnomAD v4 |
8 | g.60865339G>C | CA461105946 | CHD7 | n.1576G>C n.507G>C c.*1459G>C (n.*1459G>C) c.8400G>C (p.Leu2800=) c.2253G>C (p.Leu751=) n.446G>C c.8490G>C (p.Leu2830=) c.8487G>C (p.Leu2829=) c.8268G>C (p.Leu2756=) c.6477G>C (p.Leu2159=) c.6027G>C (p.Leu2009=) c.5235G>C (p.Leu1745=) c.8397G>C (p.Leu2799=) | |
8 | g.60865339G>T | CA461105947 | CHD7 | n.1576G>T n.507G>T c.*1459G>T (n.*1459G>T) c.8400G>T (p.Leu2800=) c.2253G>T (p.Leu751=) n.446G>T c.8490G>T (p.Leu2830=) c.8487G>T (p.Leu2829=) c.8268G>T (p.Leu2756=) c.6477G>T (p.Leu2159=) c.6027G>T (p.Leu2009=) c.5235G>T (p.Leu1745=) c.8397G>T (p.Leu2799=) | |
8 | g.60865340C>A | CA371308954 | CHD7 | n.1577C>A n.508C>A c.*1460C>A (n.*1460C>A) c.8401C>A (p.Pro2801Thr) c.2254C>A (p.Pro752Thr) n.447C>A c.8491C>A (p.Pro2831Thr) c.8488C>A (p.Pro2830Thr) c.8269C>A (p.Pro2757Thr) c.6478C>A (p.Pro2160Thr) c.6028C>A (p.Pro2010Thr) c.5236C>A (p.Pro1746Thr) c.8398C>A (p.Pro2800Thr) | |
8 | g.60865340C>G | CA371308956 | CHD7 | n.1577C>G n.508C>G c.*1460C>G (n.*1460C>G) c.8401C>G (p.Pro2801Ala) c.2254C>G (p.Pro752Ala) n.447C>G c.8491C>G (p.Pro2831Ala) c.8488C>G (p.Pro2830Ala) c.8269C>G (p.Pro2757Ala) c.6478C>G (p.Pro2160Ala) c.6028C>G (p.Pro2010Ala) c.5236C>G (p.Pro1746Ala) c.8398C>G (p.Pro2800Ala) | gnomAD v4 |
8 | g.60865340C>T | CA371308961 | CHD7 | n.1577C>T n.508C>T c.*1460C>T (n.*1460C>T) c.8401C>T (p.Pro2801Ser) c.2254C>T (p.Pro752Ser) n.447C>T c.8491C>T (p.Pro2831Ser) c.8488C>T (p.Pro2830Ser) c.8269C>T (p.Pro2757Ser) c.6478C>T (p.Pro2160Ser) c.6028C>T (p.Pro2010Ser) c.5236C>T (p.Pro1746Ser) c.8398C>T (p.Pro2800Ser) | |
8 | g.60865341C>A | CA371308966 | CHD7 | n.1578C>A n.509C>A c.*1461C>A (n.*1461C>A) c.8402C>A (p.Pro2801Gln) c.2255C>A (p.Pro752Gln) n.448C>A c.8492C>A (p.Pro2831Gln) c.8489C>A (p.Pro2830Gln) c.8270C>A (p.Pro2757Gln) c.6479C>A (p.Pro2160Gln) c.6029C>A (p.Pro2010Gln) c.5237C>A (p.Pro1746Gln) c.8399C>A (p.Pro2800Gln) | |
8 | g.60865341C>G | CA371308975 | CHD7 | n.1578C>G n.509C>G c.*1461C>G (n.*1461C>G) c.8402C>G (p.Pro2801Arg) c.2255C>G (p.Pro752Arg) n.448C>G c.8492C>G (p.Pro2831Arg) c.8489C>G (p.Pro2830Arg) c.8270C>G (p.Pro2757Arg) c.6479C>G (p.Pro2160Arg) c.6029C>G (p.Pro2010Arg) c.5237C>G (p.Pro1746Arg) c.8399C>G (p.Pro2800Arg) | |
8 | g.60865341C>T | CA371308987 | CHD7 | n.1578C>T n.509C>T c.*1461C>T (n.*1461C>T) c.8402C>T (p.Pro2801Leu) c.2255C>T (p.Pro752Leu) n.448C>T c.8492C>T (p.Pro2831Leu) c.8489C>T (p.Pro2830Leu) c.8270C>T (p.Pro2757Leu) c.6479C>T (p.Pro2160Leu) c.6029C>T (p.Pro2010Leu) c.5237C>T (p.Pro1746Leu) c.8399C>T (p.Pro2800Leu) | |
8 | g.60865342A>C | CA461105948 | CHD7 | n.1579A>C n.510A>C c.*1462A>C (n.*1462A>C) c.8403A>C (p.Pro2801=) c.2256A>C (p.Pro752=) n.449A>C c.8493A>C (p.Pro2831=) c.8490A>C (p.Pro2830=) c.8271A>C (p.Pro2757=) c.6480A>C (p.Pro2160=) c.6030A>C (p.Pro2010=) c.5238A>C (p.Pro1746=) c.8400A>C (p.Pro2800=) | |
8 | g.60865342A>G | CA461105949 | CHD7 | n.1579A>G n.510A>G c.*1462A>G (n.*1462A>G) c.8403A>G (p.Pro2801=) c.2256A>G (p.Pro752=) n.449A>G c.8493A>G (p.Pro2831=) c.8490A>G (p.Pro2830=) c.8271A>G (p.Pro2757=) c.6480A>G (p.Pro2160=) c.6030A>G (p.Pro2010=) c.5238A>G (p.Pro1746=) c.8400A>G (p.Pro2800=) | |
8 | g.60865342A>T | CA461105950 | CHD7 | n.1579A>T n.510A>T c.*1462A>T (n.*1462A>T) c.8403A>T (p.Pro2801=) c.2256A>T (p.Pro752=) n.449A>T c.8493A>T (p.Pro2831=) c.8490A>T (p.Pro2830=) c.8271A>T (p.Pro2757=) c.6480A>T (p.Pro2160=) c.6030A>T (p.Pro2010=) c.5238A>T (p.Pro1746=) c.8400A>T (p.Pro2800=) | |
8 | g.60865343G>A | CA177329427 | CHD7 | n.1580G>A n.511G>A c.*1463G>A (n.*1463G>A) c.8404G>A (p.Gly2802Arg) c.2257G>A (p.Gly753Arg) n.450G>A c.8494G>A (p.Gly2832Arg) c.8491G>A (p.Gly2831Arg) c.8272G>A (p.Gly2758Arg) c.6481G>A (p.Gly2161Arg) c.6031G>A (p.Gly2011Arg) c.5239G>A (p.Gly1747Arg) c.8401G>A (p.Gly2801Arg) | dbSNP |
8 | g.60865343G>C | CA371308990 | CHD7 | n.1580G>C n.511G>C c.*1463G>C (n.*1463G>C) c.8404G>C (p.Gly2802Arg) c.2257G>C (p.Gly753Arg) n.450G>C c.8494G>C (p.Gly2832Arg) c.8491G>C (p.Gly2831Arg) c.8272G>C (p.Gly2758Arg) c.6481G>C (p.Gly2161Arg) c.6031G>C (p.Gly2011Arg) c.5239G>C (p.Gly1747Arg) c.8401G>C (p.Gly2801Arg) | |
8 | g.60865343G= | CA1788129992 | CHD7 | n.1580G= n.511G= c.*1463G= (n.*1463G=) c.8404G= (p.Gly2802=) c.2257G= (p.Gly753=) n.450G= c.8494G= (p.Gly2832=) c.8491G= (p.Gly2831=) c.8272G= (p.Gly2758=) c.6481G= (p.Gly2161=) c.6031G= (p.Gly2011=) c.5239G= (p.Gly1747=) c.8401G= (p.Gly2801=) | |
8 | g.60865343G>T | CA371309002 | CHD7 | n.1580G>T n.511G>T c.*1463G>T (n.*1463G>T) c.8404G>T (p.Gly2802Ter) c.2257G>T (p.Gly753Ter) n.450G>T c.8494G>T (p.Gly2832Ter) c.8491G>T (p.Gly2831Ter) c.8272G>T (p.Gly2758Ter) c.6481G>T (p.Gly2161Ter) c.6031G>T (p.Gly2011Ter) c.5239G>T (p.Gly1747Ter) c.8401G>T (p.Gly2801Ter) | |
8 | g.60865344G>A | CA371309012 | CHD7 | n.1581G>A n.512G>A c.*1464G>A (n.*1464G>A) c.8405G>A (p.Gly2802Glu) c.2258G>A (p.Gly753Glu) n.451G>A c.8495G>A (p.Gly2832Glu) c.8492G>A (p.Gly2831Glu) c.8273G>A (p.Gly2758Glu) c.6482G>A (p.Gly2161Glu) c.6032G>A (p.Gly2011Glu) c.5240G>A (p.Gly1747Glu) c.8402G>A (p.Gly2801Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865344G>C | CA371309020 | CHD7 | n.1581G>C n.512G>C c.*1464G>C (n.*1464G>C) c.8405G>C (p.Gly2802Ala) c.2258G>C (p.Gly753Ala) n.451G>C c.8495G>C (p.Gly2832Ala) c.8492G>C (p.Gly2831Ala) c.8273G>C (p.Gly2758Ala) c.6482G>C (p.Gly2161Ala) c.6032G>C (p.Gly2011Ala) c.5240G>C (p.Gly1747Ala) c.8402G>C (p.Gly2801Ala) | |
8 | g.60865344G= | CA1788129996 | CHD7 | n.1581G= n.512G= c.*1464G= (n.*1464G=) c.8405G= (p.Gly2802=) c.2258G= (p.Gly753=) n.451G= c.8495G= (p.Gly2832=) c.8492G= (p.Gly2831=) c.8273G= (p.Gly2758=) c.6482G= (p.Gly2161=) c.6032G= (p.Gly2011=) c.5240G= (p.Gly1747=) c.8402G= (p.Gly2801=) | |
8 | g.60865344G>T | CA371309008 | CHD7 | n.1581G>T n.512G>T c.*1464G>T (n.*1464G>T) c.8405G>T (p.Gly2802Val) c.2258G>T (p.Gly753Val) n.451G>T c.8495G>T (p.Gly2832Val) c.8492G>T (p.Gly2831Val) c.8273G>T (p.Gly2758Val) c.6482G>T (p.Gly2161Val) c.6032G>T (p.Gly2011Val) c.5240G>T (p.Gly1747Val) c.8402G>T (p.Gly2801Val) | |
8 | g.60865345A= | CA1788129997 | CHD7 | n.1582A= n.513A= c.*1465A= (n.*1465A=) c.8406A= (p.Gly2802=) c.2259A= (p.Gly753=) n.452A= c.8496A= (p.Gly2832=) c.8493A= (p.Gly2831=) c.8274A= (p.Gly2758=) c.6483A= (p.Gly2161=) c.6033A= (p.Gly2011=) c.5241A= (p.Gly1747=) c.8403A= (p.Gly2801=) | |
8 | g.60865345A>C | CA461105951 | CHD7 | n.1582A>C n.513A>C c.*1465A>C (n.*1465A>C) c.8406A>C (p.Gly2802=) c.2259A>C (p.Gly753=) n.452A>C c.8496A>C (p.Gly2832=) c.8493A>C (p.Gly2831=) c.8274A>C (p.Gly2758=) c.6483A>C (p.Gly2161=) c.6033A>C (p.Gly2011=) c.5241A>C (p.Gly1747=) c.8403A>C (p.Gly2801=) | |
8 | g.60865345A>G | CA461105952 | CHD7 | n.1582A>G n.513A>G c.*1465A>G (n.*1465A>G) c.8406A>G (p.Gly2802=) c.2259A>G (p.Gly753=) n.452A>G c.8496A>G (p.Gly2832=) c.8493A>G (p.Gly2831=) c.8274A>G (p.Gly2758=) c.6483A>G (p.Gly2161=) c.6033A>G (p.Gly2011=) c.5241A>G (p.Gly1747=) c.8403A>G (p.Gly2801=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865345A>T | CA461105953 | CHD7 | n.1582A>T n.513A>T c.*1465A>T (n.*1465A>T) c.8406A>T (p.Gly2802=) c.2259A>T (p.Gly753=) n.452A>T c.8496A>T (p.Gly2832=) c.8493A>T (p.Gly2831=) c.8274A>T (p.Gly2758=) c.6483A>T (p.Gly2161=) c.6033A>T (p.Gly2011=) c.5241A>T (p.Gly1747=) c.8403A>T (p.Gly2801=) | |
8 | g.60865346A>C | CA371309024 | CHD7 | n.1583A>C n.514A>C c.*1466A>C (n.*1466A>C) c.8407A>C (p.Met2803Leu) c.2260A>C (p.Met754Leu) n.453A>C c.8497A>C (p.Met2833Leu) c.8494A>C (p.Met2832Leu) c.8275A>C (p.Met2759Leu) c.6484A>C (p.Met2162Leu) c.6034A>C (p.Met2012Leu) c.5242A>C (p.Met1748Leu) c.8404A>C (p.Met2802Leu) | |
8 | g.60865346A>G | CA371309027 | CHD7 | n.1583A>G n.514A>G c.*1466A>G (n.*1466A>G) c.8407A>G (p.Met2803Val) c.2260A>G (p.Met754Val) n.453A>G c.8497A>G (p.Met2833Val) c.8494A>G (p.Met2832Val) c.8275A>G (p.Met2759Val) c.6484A>G (p.Met2162Val) c.6034A>G (p.Met2012Val) c.5242A>G (p.Met1748Val) c.8404A>G (p.Met2802Val) | ClinVar dbSNP |
8 | g.60865346A>T | CA371309029 | CHD7 | n.1583A>T n.514A>T c.*1466A>T (n.*1466A>T) c.8407A>T (p.Met2803Leu) c.2260A>T (p.Met754Leu) n.453A>T c.8497A>T (p.Met2833Leu) c.8494A>T (p.Met2832Leu) c.8275A>T (p.Met2759Leu) c.6484A>T (p.Met2162Leu) c.6034A>T (p.Met2012Leu) c.5242A>T (p.Met1748Leu) c.8404A>T (p.Met2802Leu) | |
8 | g.60865347T>A | CA371309033 | CHD7 | n.1584T>A n.515T>A c.*1467T>A (n.*1467T>A) c.8408T>A (p.Met2803Lys) c.2261T>A (p.Met754Lys) n.454T>A c.8498T>A (p.Met2833Lys) c.8495T>A (p.Met2832Lys) c.8276T>A (p.Met2759Lys) c.6485T>A (p.Met2162Lys) c.6035T>A (p.Met2012Lys) c.5243T>A (p.Met1748Lys) c.8405T>A (p.Met2802Lys) | |
8 | g.60865347T>C | CA371309034 | CHD7 | n.1584T>C n.515T>C c.*1467T>C (n.*1467T>C) c.8408T>C (p.Met2803Thr) c.2261T>C (p.Met754Thr) n.454T>C c.8498T>C (p.Met2833Thr) c.8495T>C (p.Met2832Thr) c.8276T>C (p.Met2759Thr) c.6485T>C (p.Met2162Thr) c.6035T>C (p.Met2012Thr) c.5243T>C (p.Met1748Thr) c.8405T>C (p.Met2802Thr) | |
8 | g.60865347T>G | CA371309036 | CHD7 | n.1584T>G n.515T>G c.*1467T>G (n.*1467T>G) c.8408T>G (p.Met2803Arg) c.2261T>G (p.Met754Arg) n.454T>G c.8498T>G (p.Met2833Arg) c.8495T>G (p.Met2832Arg) c.8276T>G (p.Met2759Arg) c.6485T>G (p.Met2162Arg) c.6035T>G (p.Met2012Arg) c.5243T>G (p.Met1748Arg) c.8405T>G (p.Met2802Arg) | |
8 | g.60865348G>A | CA371309041 | CHD7 | n.1585G>A n.516G>A c.*1468G>A (n.*1468G>A) c.8409G>A (p.Met2803Ile) c.2262G>A (p.Met754Ile) n.455G>A c.8499G>A (p.Met2833Ile) c.8496G>A (p.Met2832Ile) c.8277G>A (p.Met2759Ile) c.6486G>A (p.Met2162Ile) c.6036G>A (p.Met2012Ile) c.5244G>A (p.Met1748Ile) c.8406G>A (p.Met2802Ile) | |
8 | g.60865348G>C | CA371309047 | CHD7 | n.1585G>C n.516G>C c.*1468G>C (n.*1468G>C) c.8409G>C (p.Met2803Ile) c.2262G>C (p.Met754Ile) n.455G>C c.8499G>C (p.Met2833Ile) c.8496G>C (p.Met2832Ile) c.8277G>C (p.Met2759Ile) c.6486G>C (p.Met2162Ile) c.6036G>C (p.Met2012Ile) c.5244G>C (p.Met1748Ile) c.8406G>C (p.Met2802Ile) | |
8 | g.60865348G>T | CA371309051 | CHD7 | n.1585G>T n.516G>T c.*1468G>T (n.*1468G>T) c.8409G>T (p.Met2803Ile) c.2262G>T (p.Met754Ile) n.455G>T c.8499G>T (p.Met2833Ile) c.8496G>T (p.Met2832Ile) c.8277G>T (p.Met2759Ile) c.6486G>T (p.Met2162Ile) c.6036G>T (p.Met2012Ile) c.5244G>T (p.Met1748Ile) c.8406G>T (p.Met2802Ile) | |
8 | g.60865349G>A | CA177329439 | CHD7 | n.1586G>A n.517G>A c.*1469G>A (n.*1469G>A) c.8410G>A (p.Ala2804Thr) c.2263G>A (p.Ala755Thr) n.456G>A c.8500G>A (p.Ala2834Thr) c.8497G>A (p.Ala2833Thr) c.8278G>A (p.Ala2760Thr) c.6487G>A (p.Ala2163Thr) c.6037G>A (p.Ala2013Thr) c.5245G>A (p.Ala1749Thr) c.8407G>A (p.Ala2803Thr) | dbSNP |
8 | g.60865349G>C | CA371309057 | CHD7 | n.1586G>C n.517G>C c.*1469G>C (n.*1469G>C) c.8410G>C (p.Ala2804Pro) c.2263G>C (p.Ala755Pro) n.456G>C c.8500G>C (p.Ala2834Pro) c.8497G>C (p.Ala2833Pro) c.8278G>C (p.Ala2760Pro) c.6487G>C (p.Ala2163Pro) c.6037G>C (p.Ala2013Pro) c.5245G>C (p.Ala1749Pro) c.8407G>C (p.Ala2803Pro) | |
8 | g.60865349G= | CA1788130001 | CHD7 | n.1586G= n.517G= c.*1469G= (n.*1469G=) c.8410G= (p.Ala2804=) c.2263G= (p.Ala755=) n.456G= c.8500G= (p.Ala2834=) c.8497G= (p.Ala2833=) c.8278G= (p.Ala2760=) c.6487G= (p.Ala2163=) c.6037G= (p.Ala2013=) c.5245G= (p.Ala1749=) c.8407G= (p.Ala2803=) | |
8 | g.60865349G>T | CA371309058 | CHD7 | n.1586G>T n.517G>T c.*1469G>T (n.*1469G>T) c.8410G>T (p.Ala2804Ser) c.2263G>T (p.Ala755Ser) n.456G>T c.8500G>T (p.Ala2834Ser) c.8497G>T (p.Ala2833Ser) c.8278G>T (p.Ala2760Ser) c.6487G>T (p.Ala2163Ser) c.6037G>T (p.Ala2013Ser) c.5245G>T (p.Ala1749Ser) c.8407G>T (p.Ala2803Ser) | |
8 | g.60865350C>A | CA371309061 | CHD7 | n.1587C>A n.518C>A c.*1470C>A (n.*1470C>A) c.8411C>A (p.Ala2804Glu) c.2264C>A (p.Ala755Glu) n.457C>A c.8501C>A (p.Ala2834Glu) c.8498C>A (p.Ala2833Glu) c.8279C>A (p.Ala2760Glu) c.6488C>A (p.Ala2163Glu) c.6038C>A (p.Ala2013Glu) c.5246C>A (p.Ala1749Glu) c.8408C>A (p.Ala2803Glu) | |
8 | g.60865350C= | CA1788130006 | CHD7 | n.1587C= n.518C= c.*1470C= (n.*1470C=) c.8411C= (p.Ala2804=) c.2264C= (p.Ala755=) n.457C= c.8501C= (p.Ala2834=) c.8498C= (p.Ala2833=) c.8279C= (p.Ala2760=) c.6488C= (p.Ala2163=) c.6038C= (p.Ala2013=) c.5246C= (p.Ala1749=) c.8408C= (p.Ala2803=) | |
8 | g.60865350C>G | CA371309063 | CHD7 | n.1587C>G n.518C>G c.*1470C>G (n.*1470C>G) c.8411C>G (p.Ala2804Gly) c.2264C>G (p.Ala755Gly) n.457C>G c.8501C>G (p.Ala2834Gly) c.8498C>G (p.Ala2833Gly) c.8279C>G (p.Ala2760Gly) c.6488C>G (p.Ala2163Gly) c.6038C>G (p.Ala2013Gly) c.5246C>G (p.Ala1749Gly) c.8408C>G (p.Ala2803Gly) | |
8 | g.60865350C>T | CA4761006 | CHD7 | n.1587C>T n.518C>T c.*1470C>T (n.*1470C>T) c.8411C>T (p.Ala2804Val) c.2264C>T (p.Ala755Val) n.457C>T c.8501C>T (p.Ala2834Val) c.8498C>T (p.Ala2833Val) c.8279C>T (p.Ala2760Val) c.6488C>T (p.Ala2163Val) c.6038C>T (p.Ala2013Val) c.5246C>T (p.Ala1749Val) c.8408C>T (p.Ala2803Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865351G>A | CA4761007 | CHD7 | n.1588G>A n.519G>A c.*1471G>A (n.*1471G>A) c.8412G>A (p.Ala2804=) c.2265G>A (p.Ala755=) n.458G>A c.8502G>A (p.Ala2834=) c.8499G>A (p.Ala2833=) c.8280G>A (p.Ala2760=) c.6489G>A (p.Ala2163=) c.6039G>A (p.Ala2013=) c.5247G>A (p.Ala1749=) c.8409G>A (p.Ala2803=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865351G>C | CA461105955 | CHD7 | n.1588G>C n.519G>C c.*1471G>C (n.*1471G>C) c.8412G>C (p.Ala2804=) c.2265G>C (p.Ala755=) n.458G>C c.8502G>C (p.Ala2834=) c.8499G>C (p.Ala2833=) c.8280G>C (p.Ala2760=) c.6489G>C (p.Ala2163=) c.6039G>C (p.Ala2013=) c.5247G>C (p.Ala1749=) c.8409G>C (p.Ala2803=) | gnomAD v4 |
8 | g.60865351G= | CA1788130026 | CHD7 | n.1588G= n.519G= c.*1471G= (n.*1471G=) c.8412G= (p.Ala2804=) c.2265G= (p.Ala755=) n.458G= c.8502G= (p.Ala2834=) c.8499G= (p.Ala2833=) c.8280G= (p.Ala2760=) c.6489G= (p.Ala2163=) c.6039G= (p.Ala2013=) c.5247G= (p.Ala1749=) c.8409G= (p.Ala2803=) | |
8 | g.60865351G>T | CA461105954 | CHD7 | n.1588G>T n.519G>T c.*1471G>T (n.*1471G>T) c.8412G>T (p.Ala2804=) c.2265G>T (p.Ala755=) n.458G>T c.8502G>T (p.Ala2834=) c.8499G>T (p.Ala2833=) c.8280G>T (p.Ala2760=) c.6489G>T (p.Ala2163=) c.6039G>T (p.Ala2013=) c.5247G>T (p.Ala1749=) c.8409G>T (p.Ala2803=) | gnomAD v4 |
8 | g.60865353dup | CA371309065 | CHD7 | n.1590dup n.521dup c.*1473dup (n.*1473dup) c.8414dup (p.Leu2806ProfsTer13) c.2267dup (p.Leu757ProfsTer13) n.460dup c.8504dup (p.Leu2836ProfsTer13) c.8501dup (p.Leu2835ProfsTer13) c.8282dup (p.Leu2762ProfsTer13) c.6491dup (p.Leu2165ProfsTer13) c.6041dup (p.Leu2015ProfsTer13) c.5249dup (p.Leu1751ProfsTer13) c.8411dup (p.Leu2805ProfsTer13) | dbSNP |
8 | g.60865352G>A | CA4761008 | CHD7 | n.1589G>A n.520G>A c.*1472G>A (n.*1472G>A) c.8413G>A (p.Gly2805Ser) c.2266G>A (p.Gly756Ser) n.459G>A c.8503G>A (p.Gly2835Ser) c.8500G>A (p.Gly2834Ser) c.8281G>A (p.Gly2761Ser) c.6490G>A (p.Gly2164Ser) c.6040G>A (p.Gly2014Ser) c.5248G>A (p.Gly1750Ser) c.8410G>A (p.Gly2804Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865352G>C | CA371309074 | CHD7 | n.1589G>C n.520G>C c.*1472G>C (n.*1472G>C) c.8413G>C (p.Gly2805Arg) c.2266G>C (p.Gly756Arg) n.459G>C c.8503G>C (p.Gly2835Arg) c.8500G>C (p.Gly2834Arg) c.8281G>C (p.Gly2761Arg) c.6490G>C (p.Gly2164Arg) c.6040G>C (p.Gly2014Arg) c.5248G>C (p.Gly1750Arg) c.8410G>C (p.Gly2804Arg) | |
8 | g.60865352G= | CA1788130036 | CHD7 | n.1589G= n.520G= c.*1472G= (n.*1472G=) c.8413G= (p.Gly2805=) c.2266G= (p.Gly756=) n.459G= c.8503G= (p.Gly2835=) c.8500G= (p.Gly2834=) c.8281G= (p.Gly2761=) c.6490G= (p.Gly2164=) c.6040G= (p.Gly2014=) c.5248G= (p.Gly1750=) c.8410G= (p.Gly2804=) | |
8 | g.60865352G>T | CA371309076 | CHD7 | n.1589G>T n.520G>T c.*1472G>T (n.*1472G>T) c.8413G>T (p.Gly2805Cys) c.2266G>T (p.Gly756Cys) n.459G>T c.8503G>T (p.Gly2835Cys) c.8500G>T (p.Gly2834Cys) c.8281G>T (p.Gly2761Cys) c.6490G>T (p.Gly2164Cys) c.6040G>T (p.Gly2014Cys) c.5248G>T (p.Gly1750Cys) c.8410G>T (p.Gly2804Cys) | ClinVar dbSNP |
8 | g.60865353G>A | CA371309090 | CHD7 | n.1590G>A n.521G>A c.*1473G>A (n.*1473G>A) c.8414G>A (p.Gly2805Asp) c.2267G>A (p.Gly756Asp) n.460G>A c.8504G>A (p.Gly2835Asp) c.8501G>A (p.Gly2834Asp) c.8282G>A (p.Gly2761Asp) c.6491G>A (p.Gly2164Asp) c.6041G>A (p.Gly2014Asp) c.5249G>A (p.Gly1750Asp) c.8411G>A (p.Gly2804Asp) | gnomAD v4 |
8 | g.60865353G>C | CA371309079 | CHD7 | n.1590G>C n.521G>C c.*1473G>C (n.*1473G>C) c.8414G>C (p.Gly2805Ala) c.2267G>C (p.Gly756Ala) n.460G>C c.8504G>C (p.Gly2835Ala) c.8501G>C (p.Gly2834Ala) c.8282G>C (p.Gly2761Ala) c.6491G>C (p.Gly2164Ala) c.6041G>C (p.Gly2014Ala) c.5249G>C (p.Gly1750Ala) c.8411G>C (p.Gly2804Ala) | |
8 | g.60865353G>T | CA371309087 | CHD7 | n.1590G>T n.521G>T c.*1473G>T (n.*1473G>T) c.8414G>T (p.Gly2805Val) c.2267G>T (p.Gly756Val) n.460G>T c.8504G>T (p.Gly2835Val) c.8501G>T (p.Gly2834Val) c.8282G>T (p.Gly2761Val) c.6491G>T (p.Gly2164Val) c.6041G>T (p.Gly2014Val) c.5249G>T (p.Gly1750Val) c.8411G>T (p.Gly2804Val) | |
8 | g.60865354C>A | CA461105959 | CHD7 | n.1591C>A n.522C>A c.*1474C>A (n.*1474C>A) c.8415C>A (p.Gly2805=) c.2268C>A (p.Gly756=) n.461C>A c.8505C>A (p.Gly2835=) c.8502C>A (p.Gly2834=) c.8283C>A (p.Gly2761=) c.6492C>A (p.Gly2164=) c.6042C>A (p.Gly2014=) c.5250C>A (p.Gly1750=) c.8412C>A (p.Gly2804=) | |
8 | g.60865354C= | CA1788130046 | CHD7 | n.1591C= n.522C= c.*1474C= (n.*1474C=) c.8415C= (p.Gly2805=) c.2268C= (p.Gly756=) n.461C= c.8505C= (p.Gly2835=) c.8502C= (p.Gly2834=) c.8283C= (p.Gly2761=) c.6492C= (p.Gly2164=) c.6042C= (p.Gly2014=) c.5250C= (p.Gly1750=) c.8412C= (p.Gly2804=) | |
8 | g.60865354C>G | CA461105960 | CHD7 | n.1591C>G n.522C>G c.*1474C>G (n.*1474C>G) c.8415C>G (p.Gly2805=) c.2268C>G (p.Gly756=) n.461C>G c.8505C>G (p.Gly2835=) c.8502C>G (p.Gly2834=) c.8283C>G (p.Gly2761=) c.6492C>G (p.Gly2164=) c.6042C>G (p.Gly2014=) c.5250C>G (p.Gly1750=) c.8412C>G (p.Gly2804=) | dbSNP gnomAD v4 |
8 | g.60865354C>T | CA177329461 | CHD7 | n.1591C>T n.522C>T c.*1474C>T (n.*1474C>T) c.8415C>T (p.Gly2805=) c.2268C>T (p.Gly756=) n.461C>T c.8505C>T (p.Gly2835=) c.8502C>T (p.Gly2834=) c.8283C>T (p.Gly2761=) c.6492C>T (p.Gly2164=) c.6042C>T (p.Gly2014=) c.5250C>T (p.Gly1750=) c.8412C>T (p.Gly2804=) | dbSNP gnomAD v4 |
8 | g.60865355del | CA2739268821 | CHD7 | n.1592del n.523del c.*1475del (n.*1475del) c.8416del (p.Leu2806CysfsTer11) c.2269del (p.Leu757CysfsTer11) n.462del c.8506del (p.Leu2836CysfsTer11) c.8503del (p.Leu2835CysfsTer11) c.8284del (p.Leu2762CysfsTer11) c.6493del (p.Leu2165CysfsTer11) c.6043del (p.Leu2015CysfsTer11) c.5251del (p.Leu1751CysfsTer11) c.8413del (p.Leu2805CysfsTer11) | ClinVar |
8 | g.60865355C>A | CA371309102 | CHD7 | n.1592C>A n.523C>A c.*1475C>A (n.*1475C>A) c.8416C>A (p.Leu2806Met) c.2269C>A (p.Leu757Met) n.462C>A c.8506C>A (p.Leu2836Met) c.8503C>A (p.Leu2835Met) c.8284C>A (p.Leu2762Met) c.6493C>A (p.Leu2165Met) c.6043C>A (p.Leu2015Met) c.5251C>A (p.Leu1751Met) c.8413C>A (p.Leu2805Met) | |
8 | g.60865355C= | CA1788130053 | CHD7 | n.1592C= n.523C= c.*1475C= (n.*1475C=) c.8416C= (p.Leu2806=) c.2269C= (p.Leu757=) n.462C= c.8506C= (p.Leu2836=) c.8503C= (p.Leu2835=) c.8284C= (p.Leu2762=) c.6493C= (p.Leu2165=) c.6043C= (p.Leu2015=) c.5251C= (p.Leu1751=) c.8413C= (p.Leu2805=) | |
8 | g.60865355C>G | CA171767 | CHD7 | n.1592C>G n.523C>G c.*1475C>G (n.*1475C>G) c.8416C>G (p.Leu2806Val) c.2269C>G (p.Leu757Val) n.462C>G c.8506C>G (p.Leu2836Val) c.8503C>G (p.Leu2835Val) c.8284C>G (p.Leu2762Val) c.6493C>G (p.Leu2165Val) c.6043C>G (p.Leu2015Val) c.5251C>G (p.Leu1751Val) c.8413C>G (p.Leu2805Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865355C>T | CA461105965 | CHD7 | n.1592C>T n.523C>T c.*1475C>T (n.*1475C>T) c.8416C>T (p.Leu2806=) c.2269C>T (p.Leu757=) n.462C>T c.8506C>T (p.Leu2836=) c.8503C>T (p.Leu2835=) c.8284C>T (p.Leu2762=) c.6493C>T (p.Leu2165=) c.6043C>T (p.Leu2015=) c.5251C>T (p.Leu1751=) c.8413C>T (p.Leu2805=) | |
8 | g.60865356T>A | CA371309107 | CHD7 | n.1593T>A n.524T>A c.*1476T>A (n.*1476T>A) c.8417T>A (p.Leu2806Gln) c.2270T>A (p.Leu757Gln) n.463T>A c.8507T>A (p.Leu2836Gln) c.8504T>A (p.Leu2835Gln) c.8285T>A (p.Leu2762Gln) c.6494T>A (p.Leu2165Gln) c.6044T>A (p.Leu2015Gln) c.5252T>A (p.Leu1751Gln) c.8414T>A (p.Leu2805Gln) | |
8 | g.60865356T>C | CA371309109 | CHD7 | n.1593T>C n.524T>C c.*1476T>C (n.*1476T>C) c.8417T>C (p.Leu2806Pro) c.2270T>C (p.Leu757Pro) n.463T>C c.8507T>C (p.Leu2836Pro) c.8504T>C (p.Leu2835Pro) c.8285T>C (p.Leu2762Pro) c.6494T>C (p.Leu2165Pro) c.6044T>C (p.Leu2015Pro) c.5252T>C (p.Leu1751Pro) c.8414T>C (p.Leu2805Pro) | |
8 | g.60865356T>G | CA371309111 | CHD7 | n.1593T>G n.524T>G c.*1476T>G (n.*1476T>G) c.8417T>G (p.Leu2806Arg) c.2270T>G (p.Leu757Arg) n.463T>G c.8507T>G (p.Leu2836Arg) c.8504T>G (p.Leu2835Arg) c.8285T>G (p.Leu2762Arg) c.6494T>G (p.Leu2165Arg) c.6044T>G (p.Leu2015Arg) c.5252T>G (p.Leu1751Arg) c.8414T>G (p.Leu2805Arg) | |
8 | g.60865357G>A | CA461105973 | CHD7 | n.1594G>A n.525G>A c.*1477G>A (n.*1477G>A) c.8418G>A (p.Leu2806=) c.2271G>A (p.Leu757=) n.464G>A c.8508G>A (p.Leu2836=) c.8505G>A (p.Leu2835=) c.8286G>A (p.Leu2762=) c.6495G>A (p.Leu2165=) c.6045G>A (p.Leu2015=) c.5253G>A (p.Leu1751=) c.8415G>A (p.Leu2805=) | |
8 | g.60865357G>C | CA4761009 | CHD7 | n.1594G>C n.525G>C c.*1477G>C (n.*1477G>C) c.8418G>C (p.Leu2806=) c.2271G>C (p.Leu757=) n.464G>C c.8508G>C (p.Leu2836=) c.8505G>C (p.Leu2835=) c.8286G>C (p.Leu2762=) c.6495G>C (p.Leu2165=) c.6045G>C (p.Leu2015=) c.5253G>C (p.Leu1751=) c.8415G>C (p.Leu2805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865357G= | CA1788130064 | CHD7 | n.1594G= n.525G= c.*1477G= (n.*1477G=) c.8418G= (p.Leu2806=) c.2271G= (p.Leu757=) n.464G= c.8508G= (p.Leu2836=) c.8505G= (p.Leu2835=) c.8286G= (p.Leu2762=) c.6495G= (p.Leu2165=) c.6045G= (p.Leu2015=) c.5253G= (p.Leu1751=) c.8415G= (p.Leu2805=) | |
8 | g.60865357G>T | CA461105971 | CHD7 | n.1594G>T n.525G>T c.*1477G>T (n.*1477G>T) c.8418G>T (p.Leu2806=) c.2271G>T (p.Leu757=) n.464G>T c.8508G>T (p.Leu2836=) c.8505G>T (p.Leu2835=) c.8286G>T (p.Leu2762=) c.6495G>T (p.Leu2165=) c.6045G>T (p.Leu2015=) c.5253G>T (p.Leu1751=) c.8415G>T (p.Leu2805=) | gnomAD v4 |
8 | g.60865358C>A | CA371309135 | CHD7 | n.1595C>A n.526C>A c.*1478C>A (n.*1478C>A) c.8419C>A (p.Pro2807Thr) c.2272C>A (p.Pro758Thr) n.465C>A c.8509C>A (p.Pro2837Thr) c.8506C>A (p.Pro2836Thr) c.8287C>A (p.Pro2763Thr) c.6496C>A (p.Pro2166Thr) c.6046C>A (p.Pro2016Thr) c.5254C>A (p.Pro1752Thr) c.8416C>A (p.Pro2806Thr) | |
8 | g.60865358C= | CA1788130075 | CHD7 | n.1595C= n.526C= c.*1478C= (n.*1478C=) c.8419C= (p.Pro2807=) c.2272C= (p.Pro758=) n.465C= c.8509C= (p.Pro2837=) c.8506C= (p.Pro2836=) c.8287C= (p.Pro2763=) c.6496C= (p.Pro2166=) c.6046C= (p.Pro2016=) c.5254C= (p.Pro1752=) c.8416C= (p.Pro2806=) | |
8 | g.60865358C>G | CA371309122 | CHD7 | n.1595C>G n.526C>G c.*1478C>G (n.*1478C>G) c.8419C>G (p.Pro2807Ala) c.2272C>G (p.Pro758Ala) n.465C>G c.8509C>G (p.Pro2837Ala) c.8506C>G (p.Pro2836Ala) c.8287C>G (p.Pro2763Ala) c.6496C>G (p.Pro2166Ala) c.6046C>G (p.Pro2016Ala) c.5254C>G (p.Pro1752Ala) c.8416C>G (p.Pro2806Ala) | dbSNP |
8 | g.60865358C>T | CA371309143 | CHD7 | n.1595C>T n.526C>T c.*1478C>T (n.*1478C>T) c.8419C>T (p.Pro2807Ser) c.2272C>T (p.Pro758Ser) n.465C>T c.8509C>T (p.Pro2837Ser) c.8506C>T (p.Pro2836Ser) c.8287C>T (p.Pro2763Ser) c.6496C>T (p.Pro2166Ser) c.6046C>T (p.Pro2016Ser) c.5254C>T (p.Pro1752Ser) c.8416C>T (p.Pro2806Ser) | gnomAD v4 |
8 | g.60865359C>A | CA371309146 | CHD7 | n.1596C>A n.527C>A c.*1479C>A (n.*1479C>A) c.8420C>A (p.Pro2807His) c.2273C>A (p.Pro758His) n.466C>A c.8510C>A (p.Pro2837His) c.8507C>A (p.Pro2836His) c.8288C>A (p.Pro2763His) c.6497C>A (p.Pro2166His) c.6047C>A (p.Pro2016His) c.5255C>A (p.Pro1752His) c.8417C>A (p.Pro2806His) | |
8 | g.60865359C= | CA1788130082 | CHD7 | n.1596C= n.527C= c.*1479C= (n.*1479C=) c.8420C= (p.Pro2807=) c.2273C= (p.Pro758=) n.466C= c.8510C= (p.Pro2837=) c.8507C= (p.Pro2836=) c.8288C= (p.Pro2763=) c.6497C= (p.Pro2166=) c.6047C= (p.Pro2016=) c.5255C= (p.Pro1752=) c.8417C= (p.Pro2806=) | |
8 | g.60865359C>G | CA371309151 | CHD7 | n.1596C>G n.527C>G c.*1479C>G (n.*1479C>G) c.8420C>G (p.Pro2807Arg) c.2273C>G (p.Pro758Arg) n.466C>G c.8510C>G (p.Pro2837Arg) c.8507C>G (p.Pro2836Arg) c.8288C>G (p.Pro2763Arg) c.6497C>G (p.Pro2166Arg) c.6047C>G (p.Pro2016Arg) c.5255C>G (p.Pro1752Arg) c.8417C>G (p.Pro2806Arg) | |
8 | g.60865359C>T | CA371309148 | CHD7 | n.1596C>T n.527C>T c.*1479C>T (n.*1479C>T) c.8420C>T (p.Pro2807Leu) c.2273C>T (p.Pro758Leu) n.466C>T c.8510C>T (p.Pro2837Leu) c.8507C>T (p.Pro2836Leu) c.8288C>T (p.Pro2763Leu) c.6497C>T (p.Pro2166Leu) c.6047C>T (p.Pro2016Leu) c.5255C>T (p.Pro1752Leu) c.8417C>T (p.Pro2806Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.60865360C>A | CA461105977 | CHD7 | n.1597C>A n.528C>A c.*1480C>A (n.*1480C>A) c.8421C>A (p.Pro2807=) c.2274C>A (p.Pro758=) n.467C>A c.8511C>A (p.Pro2837=) c.8508C>A (p.Pro2836=) c.8289C>A (p.Pro2763=) c.6498C>A (p.Pro2166=) c.6048C>A (p.Pro2016=) c.5256C>A (p.Pro1752=) c.8418C>A (p.Pro2806=) | |
8 | g.60865360C= | CA1788130087 | CHD7 | n.1597C= n.528C= c.*1480C= (n.*1480C=) c.8421C= (p.Pro2807=) c.2274C= (p.Pro758=) n.467C= c.8511C= (p.Pro2837=) c.8508C= (p.Pro2836=) c.8289C= (p.Pro2763=) c.6498C= (p.Pro2166=) c.6048C= (p.Pro2016=) c.5256C= (p.Pro1752=) c.8418C= (p.Pro2806=) | |
8 | g.60865360C>G | CA461105979 | CHD7 | n.1597C>G n.528C>G c.*1480C>G (n.*1480C>G) c.8421C>G (p.Pro2807=) c.2274C>G (p.Pro758=) n.467C>G c.8511C>G (p.Pro2837=) c.8508C>G (p.Pro2836=) c.8289C>G (p.Pro2763=) c.6498C>G (p.Pro2166=) c.6048C>G (p.Pro2016=) c.5256C>G (p.Pro1752=) c.8418C>G (p.Pro2806=) | |
8 | g.60865360C>T | CA4761010 | CHD7 | n.1597C>T n.528C>T c.*1480C>T (n.*1480C>T) c.8421C>T (p.Pro2807=) c.2274C>T (p.Pro758=) n.467C>T c.8511C>T (p.Pro2837=) c.8508C>T (p.Pro2836=) c.8289C>T (p.Pro2763=) c.6498C>T (p.Pro2166=) c.6048C>T (p.Pro2016=) c.5256C>T (p.Pro1752=) c.8418C>T (p.Pro2806=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865361A= | CA1788130089 | CHD7 | n.1598A= n.529A= c.*1481A= (n.*1481A=) c.8422A= (p.Asn2808=) c.2275A= (p.Asn759=) n.468A= c.8512A= (p.Asn2838=) c.8509A= (p.Asn2837=) c.8290A= (p.Asn2764=) c.6499A= (p.Asn2167=) c.6049A= (p.Asn2017=) c.5257A= (p.Asn1753=) c.8419A= (p.Asn2807=) | |
8 | g.60865361A>C | CA177329489 | CHD7 | n.1598A>C n.529A>C c.*1481A>C (n.*1481A>C) c.8422A>C (p.Asn2808His) c.2275A>C (p.Asn759His) n.468A>C c.8512A>C (p.Asn2838His) c.8509A>C (p.Asn2837His) c.8290A>C (p.Asn2764His) c.6499A>C (p.Asn2167His) c.6049A>C (p.Asn2017His) c.5257A>C (p.Asn1753His) c.8419A>C (p.Asn2807His) | dbSNP gnomAD v4 |
8 | g.60865361A>G | CA371309160 | CHD7 | n.1598A>G n.529A>G c.*1481A>G (n.*1481A>G) c.8422A>G (p.Asn2808Asp) c.2275A>G (p.Asn759Asp) n.468A>G c.8512A>G (p.Asn2838Asp) c.8509A>G (p.Asn2837Asp) c.8290A>G (p.Asn2764Asp) c.6499A>G (p.Asn2167Asp) c.6049A>G (p.Asn2017Asp) c.5257A>G (p.Asn1753Asp) c.8419A>G (p.Asn2807Asp) | |
8 | g.60865361A>T | CA371309172 | CHD7 | n.1598A>T n.529A>T c.*1481A>T (n.*1481A>T) c.8422A>T (p.Asn2808Tyr) c.2275A>T (p.Asn759Tyr) n.468A>T c.8512A>T (p.Asn2838Tyr) c.8509A>T (p.Asn2837Tyr) c.8290A>T (p.Asn2764Tyr) c.6499A>T (p.Asn2167Tyr) c.6049A>T (p.Asn2017Tyr) c.5257A>T (p.Asn1753Tyr) c.8419A>T (p.Asn2807Tyr) | |
8 | g.60865362A= | CA1788130095 | CHD7 | n.1599A= n.530A= c.*1482A= (n.*1482A=) c.8423A= (p.Asn2808=) c.2276A= (p.Asn759=) n.469A= c.8513A= (p.Asn2838=) c.8510A= (p.Asn2837=) c.8291A= (p.Asn2764=) c.6500A= (p.Asn2167=) c.6050A= (p.Asn2017=) c.5258A= (p.Asn1753=) c.8420A= (p.Asn2807=) | |
8 | g.60865362A>C | CA371309178 | CHD7 | n.1599A>C n.530A>C c.*1482A>C (n.*1482A>C) c.8423A>C (p.Asn2808Thr) c.2276A>C (p.Asn759Thr) n.469A>C c.8513A>C (p.Asn2838Thr) c.8510A>C (p.Asn2837Thr) c.8291A>C (p.Asn2764Thr) c.6500A>C (p.Asn2167Thr) c.6050A>C (p.Asn2017Thr) c.5258A>C (p.Asn1753Thr) c.8420A>C (p.Asn2807Thr) | ClinVar dbSNP |
8 | g.60865362A>G | CA4761011 | CHD7 | n.1599A>G n.530A>G c.*1482A>G (n.*1482A>G) c.8423A>G (p.Asn2808Ser) c.2276A>G (p.Asn759Ser) n.469A>G c.8513A>G (p.Asn2838Ser) c.8510A>G (p.Asn2837Ser) c.8291A>G (p.Asn2764Ser) c.6500A>G (p.Asn2167Ser) c.6050A>G (p.Asn2017Ser) c.5258A>G (p.Asn1753Ser) c.8420A>G (p.Asn2807Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865362A>T | CA371309195 | CHD7 | n.1599A>T n.530A>T c.*1482A>T (n.*1482A>T) c.8423A>T (p.Asn2808Ile) c.2276A>T (p.Asn759Ile) n.469A>T c.8513A>T (p.Asn2838Ile) c.8510A>T (p.Asn2837Ile) c.8291A>T (p.Asn2764Ile) c.6500A>T (p.Asn2167Ile) c.6050A>T (p.Asn2017Ile) c.5258A>T (p.Asn1753Ile) c.8420A>T (p.Asn2807Ile) | |
8 | g.60865363C>A | CA371309200 | CHD7 | n.1600C>A n.531C>A c.*1483C>A (n.*1483C>A) c.8424C>A (p.Asn2808Lys) c.2277C>A (p.Asn759Lys) n.470C>A c.8514C>A (p.Asn2838Lys) c.8511C>A (p.Asn2837Lys) c.8292C>A (p.Asn2764Lys) c.6501C>A (p.Asn2167Lys) c.6051C>A (p.Asn2017Lys) c.5259C>A (p.Asn1753Lys) c.8421C>A (p.Asn2807Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865363C= | CA1788130107 | CHD7 | n.1600C= n.531C= c.*1483C= (n.*1483C=) c.8424C= (p.Asn2808=) c.2277C= (p.Asn759=) n.470C= c.8514C= (p.Asn2838=) c.8511C= (p.Asn2837=) c.8292C= (p.Asn2764=) c.6501C= (p.Asn2167=) c.6051C= (p.Asn2017=) c.5259C= (p.Asn1753=) c.8421C= (p.Asn2807=) | |
8 | g.60865363C>G | CA371309204 | CHD7 | n.1600C>G n.531C>G c.*1483C>G (n.*1483C>G) c.8424C>G (p.Asn2808Lys) c.2277C>G (p.Asn759Lys) n.470C>G c.8514C>G (p.Asn2838Lys) c.8511C>G (p.Asn2837Lys) c.8292C>G (p.Asn2764Lys) c.6501C>G (p.Asn2167Lys) c.6051C>G (p.Asn2017Lys) c.5259C>G (p.Asn1753Lys) c.8421C>G (p.Asn2807Lys) | |
8 | g.60865363C>T | CA4761012 | CHD7 | n.1600C>T n.531C>T c.*1483C>T (n.*1483C>T) c.8424C>T (p.Asn2808=) c.2277C>T (p.Asn759=) n.470C>T c.8514C>T (p.Asn2838=) c.8511C>T (p.Asn2837=) c.8292C>T (p.Asn2764=) c.6501C>T (p.Asn2167=) c.6051C>T (p.Asn2017=) c.5259C>T (p.Asn1753=) c.8421C>T (p.Asn2807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865364G>A | CA4761013 | CHD7 | n.1601G>A n.532G>A c.*1484G>A (n.*1484G>A) c.8425G>A (p.Val2809Met) c.2278G>A (p.Val760Met) n.471G>A c.8515G>A (p.Val2839Met) c.8512G>A (p.Val2838Met) c.8293G>A (p.Val2765Met) c.6502G>A (p.Val2168Met) c.6052G>A (p.Val2018Met) c.5260G>A (p.Val1754Met) c.8422G>A (p.Val2808Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865364G>C | CA371309226 | CHD7 | n.1601G>C n.532G>C c.*1484G>C (n.*1484G>C) c.8425G>C (p.Val2809Leu) c.2278G>C (p.Val760Leu) n.471G>C c.8515G>C (p.Val2839Leu) c.8512G>C (p.Val2838Leu) c.8293G>C (p.Val2765Leu) c.6502G>C (p.Val2168Leu) c.6052G>C (p.Val2018Leu) c.5260G>C (p.Val1754Leu) c.8422G>C (p.Val2808Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865364G= | CA1788130120 | CHD7 | n.1601G= n.532G= c.*1484G= (n.*1484G=) c.8425G= (p.Val2809=) c.2278G= (p.Val760=) n.471G= c.8515G= (p.Val2839=) c.8512G= (p.Val2838=) c.8293G= (p.Val2765=) c.6502G= (p.Val2168=) c.6052G= (p.Val2018=) c.5260G= (p.Val1754=) c.8422G= (p.Val2808=) | |
8 | g.60865364G>T | CA371309255 | CHD7 | n.1601G>T n.532G>T c.*1484G>T (n.*1484G>T) c.8425G>T (p.Val2809Leu) c.2278G>T (p.Val760Leu) n.471G>T c.8515G>T (p.Val2839Leu) c.8512G>T (p.Val2838Leu) c.8293G>T (p.Val2765Leu) c.6502G>T (p.Val2168Leu) c.6052G>T (p.Val2018Leu) c.5260G>T (p.Val1754Leu) c.8422G>T (p.Val2808Leu) | |
8 | g.60865365T>A | CA371309260 | CHD7 | n.1602T>A n.533T>A c.*1485T>A (n.*1485T>A) c.8426T>A (p.Val2809Glu) c.2279T>A (p.Val760Glu) n.472T>A c.8516T>A (p.Val2839Glu) c.8513T>A (p.Val2838Glu) c.8294T>A (p.Val2765Glu) c.6503T>A (p.Val2168Glu) c.6053T>A (p.Val2018Glu) c.5261T>A (p.Val1754Glu) c.8423T>A (p.Val2808Glu) | |
8 | g.60865365T>C | CA371309261 | CHD7 | n.1602T>C n.533T>C c.*1485T>C (n.*1485T>C) c.8426T>C (p.Val2809Ala) c.2279T>C (p.Val760Ala) n.472T>C c.8516T>C (p.Val2839Ala) c.8513T>C (p.Val2838Ala) c.8294T>C (p.Val2765Ala) c.6503T>C (p.Val2168Ala) c.6053T>C (p.Val2018Ala) c.5261T>C (p.Val1754Ala) c.8423T>C (p.Val2808Ala) | |
8 | g.60865365T>G | CA371309263 | CHD7 | n.1602T>G n.533T>G c.*1485T>G (n.*1485T>G) c.8426T>G (p.Val2809Gly) c.2279T>G (p.Val760Gly) n.472T>G c.8516T>G (p.Val2839Gly) c.8513T>G (p.Val2838Gly) c.8294T>G (p.Val2765Gly) c.6503T>G (p.Val2168Gly) c.6053T>G (p.Val2018Gly) c.5261T>G (p.Val1754Gly) c.8423T>G (p.Val2808Gly) | |
8 | g.60865366G>A | CA461105991 | CHD7 | n.1603G>A n.534G>A c.*1486G>A (n.*1486G>A) c.8427G>A (p.Val2809=) c.2280G>A (p.Val760=) n.473G>A c.8517G>A (p.Val2839=) c.8514G>A (p.Val2838=) c.8295G>A (p.Val2765=) c.6504G>A (p.Val2168=) c.6054G>A (p.Val2018=) c.5262G>A (p.Val1754=) c.8424G>A (p.Val2808=) | dbSNP gnomAD v2 |
8 | g.60865366G>C | CA461105992 | CHD7 | n.1603G>C n.534G>C c.*1486G>C (n.*1486G>C) c.8427G>C (p.Val2809=) c.2280G>C (p.Val760=) n.473G>C c.8517G>C (p.Val2839=) c.8514G>C (p.Val2838=) c.8295G>C (p.Val2765=) c.6504G>C (p.Val2168=) c.6054G>C (p.Val2018=) c.5262G>C (p.Val1754=) c.8424G>C (p.Val2808=) | |
8 | g.60865366G= | CA1788130131 | CHD7 | n.1603G= n.534G= c.*1486G= (n.*1486G=) c.8427G= (p.Val2809=) c.2280G= (p.Val760=) n.473G= c.8517G= (p.Val2839=) c.8514G= (p.Val2838=) c.8295G= (p.Val2765=) c.6504G= (p.Val2168=) c.6054G= (p.Val2018=) c.5262G= (p.Val1754=) c.8424G= (p.Val2808=) | |
8 | g.60865366G>T | CA461105993 | CHD7 | n.1603G>T n.534G>T c.*1486G>T (n.*1486G>T) c.8427G>T (p.Val2809=) c.2280G>T (p.Val760=) n.473G>T c.8517G>T (p.Val2839=) c.8514G>T (p.Val2838=) c.8295G>T (p.Val2765=) c.6504G>T (p.Val2168=) c.6054G>T (p.Val2018=) c.5262G>T (p.Val1754=) c.8424G>T (p.Val2808=) | |
8 | g.60865367T>A | CA4761014 | CHD7 | n.1604T>A n.535T>A c.*1487T>A (n.*1487T>A) c.8428T>A (p.Phe2810Ile) c.2281T>A (p.Phe761Ile) n.474T>A c.8518T>A (p.Phe2840Ile) c.8515T>A (p.Phe2839Ile) c.8296T>A (p.Phe2766Ile) c.6505T>A (p.Phe2169Ile) c.6055T>A (p.Phe2019Ile) c.5263T>A (p.Phe1755Ile) c.8425T>A (p.Phe2809Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865367T>C | CA371309267 | CHD7 | n.1604T>C n.535T>C c.*1487T>C (n.*1487T>C) c.8428T>C (p.Phe2810Leu) c.2281T>C (p.Phe761Leu) n.474T>C c.8518T>C (p.Phe2840Leu) c.8515T>C (p.Phe2839Leu) c.8296T>C (p.Phe2766Leu) c.6505T>C (p.Phe2169Leu) c.6055T>C (p.Phe2019Leu) c.5263T>C (p.Phe1755Leu) c.8425T>C (p.Phe2809Leu) | |
8 | g.60865367T>G | CA371309271 | CHD7 | n.1604T>G n.535T>G c.*1487T>G (n.*1487T>G) c.8428T>G (p.Phe2810Val) c.2281T>G (p.Phe761Val) n.474T>G c.8518T>G (p.Phe2840Val) c.8515T>G (p.Phe2839Val) c.8296T>G (p.Phe2766Val) c.6505T>G (p.Phe2169Val) c.6055T>G (p.Phe2019Val) c.5263T>G (p.Phe1755Val) c.8425T>G (p.Phe2809Val) | |
8 | g.60865367T= | CA1788130143 | CHD7 | n.1604T= n.535T= c.*1487T= (n.*1487T=) c.8428T= (p.Phe2810=) c.2281T= (p.Phe761=) n.474T= c.8518T= (p.Phe2840=) c.8515T= (p.Phe2839=) c.8296T= (p.Phe2766=) c.6505T= (p.Phe2169=) c.6055T= (p.Phe2019=) c.5263T= (p.Phe1755=) c.8425T= (p.Phe2809=) | |
8 | g.60865368T>A | CA371309275 | CHD7 | n.1605T>A n.536T>A c.*1488T>A (n.*1488T>A) c.8429T>A (p.Phe2810Tyr) c.2282T>A (p.Phe761Tyr) n.475T>A c.8519T>A (p.Phe2840Tyr) c.8516T>A (p.Phe2839Tyr) c.8297T>A (p.Phe2766Tyr) c.6506T>A (p.Phe2169Tyr) c.6056T>A (p.Phe2019Tyr) c.5264T>A (p.Phe1755Tyr) c.8426T>A (p.Phe2809Tyr) | |
8 | g.60865368T>C | CA371309277 | CHD7 | n.1605T>C n.536T>C c.*1488T>C (n.*1488T>C) c.8429T>C (p.Phe2810Ser) c.2282T>C (p.Phe761Ser) n.475T>C c.8519T>C (p.Phe2840Ser) c.8516T>C (p.Phe2839Ser) c.8297T>C (p.Phe2766Ser) c.6506T>C (p.Phe2169Ser) c.6056T>C (p.Phe2019Ser) c.5264T>C (p.Phe1755Ser) c.8426T>C (p.Phe2809Ser) | |
8 | g.60865368T>G | CA371309279 | CHD7 | n.1605T>G n.536T>G c.*1488T>G (n.*1488T>G) c.8429T>G (p.Phe2810Cys) c.2282T>G (p.Phe761Cys) n.475T>G c.8519T>G (p.Phe2840Cys) c.8516T>G (p.Phe2839Cys) c.8297T>G (p.Phe2766Cys) c.6506T>G (p.Phe2169Cys) c.6056T>G (p.Phe2019Cys) c.5264T>G (p.Phe1755Cys) c.8426T>G (p.Phe2809Cys) | dbSNP |
8 | g.60865368T= | CA1788130147 | CHD7 | n.1605T= n.536T= c.*1488T= (n.*1488T=) c.8429T= (p.Phe2810=) c.2282T= (p.Phe761=) n.475T= c.8519T= (p.Phe2840=) c.8516T= (p.Phe2839=) c.8297T= (p.Phe2766=) c.6506T= (p.Phe2169=) c.6056T= (p.Phe2019=) c.5264T= (p.Phe1755=) c.8426T= (p.Phe2809=) | |
8 | g.60865369T>A | CA371309282 | CHD7 | n.1606T>A n.537T>A c.*1489T>A (n.*1489T>A) c.8430T>A (p.Phe2810Leu) c.2283T>A (p.Phe761Leu) n.476T>A c.8520T>A (p.Phe2840Leu) c.8517T>A (p.Phe2839Leu) c.8298T>A (p.Phe2766Leu) c.6507T>A (p.Phe2169Leu) c.6057T>A (p.Phe2019Leu) c.5265T>A (p.Phe1755Leu) c.8427T>A (p.Phe2809Leu) | |
8 | g.60865369T>C | CA461105996 | CHD7 | n.1606T>C n.537T>C c.*1489T>C (n.*1489T>C) c.8430T>C (p.Phe2810=) c.2283T>C (p.Phe761=) n.476T>C c.8520T>C (p.Phe2840=) c.8517T>C (p.Phe2839=) c.8298T>C (p.Phe2766=) c.6507T>C (p.Phe2169=) c.6057T>C (p.Phe2019=) c.5265T>C (p.Phe1755=) c.8427T>C (p.Phe2809=) | |
8 | g.60865369T>G | CA371309284 | CHD7 | n.1606T>G n.537T>G c.*1489T>G (n.*1489T>G) c.8430T>G (p.Phe2810Leu) c.2283T>G (p.Phe761Leu) n.476T>G c.8520T>G (p.Phe2840Leu) c.8517T>G (p.Phe2839Leu) c.8298T>G (p.Phe2766Leu) c.6507T>G (p.Phe2169Leu) c.6057T>G (p.Phe2019Leu) c.5265T>G (p.Phe1755Leu) c.8427T>G (p.Phe2809Leu) | |
8 | g.60865370G>A | CA4761015 | CHD7 | n.1607G>A n.538G>A c.*1490G>A (n.*1490G>A) c.8431G>A (p.Gly2811Ser) c.2284G>A (p.Gly762Ser) n.477G>A c.8521G>A (p.Gly2841Ser) c.8518G>A (p.Gly2840Ser) c.8299G>A (p.Gly2767Ser) c.6508G>A (p.Gly2170Ser) c.6058G>A (p.Gly2020Ser) c.5266G>A (p.Gly1756Ser) c.8428G>A (p.Gly2810Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865370G>C | CA371309289 | CHD7 | n.1607G>C n.538G>C c.*1490G>C (n.*1490G>C) c.8431G>C (p.Gly2811Arg) c.2284G>C (p.Gly762Arg) n.477G>C c.8521G>C (p.Gly2841Arg) c.8518G>C (p.Gly2840Arg) c.8299G>C (p.Gly2767Arg) c.6508G>C (p.Gly2170Arg) c.6058G>C (p.Gly2020Arg) c.5266G>C (p.Gly1756Arg) c.8428G>C (p.Gly2810Arg) | |
8 | g.60865370G= | CA1788130150 | CHD7 | n.1607G= n.538G= c.*1490G= (n.*1490G=) c.8431G= (p.Gly2811=) c.2284G= (p.Gly762=) n.477G= c.8521G= (p.Gly2841=) c.8518G= (p.Gly2840=) c.8299G= (p.Gly2767=) c.6508G= (p.Gly2170=) c.6058G= (p.Gly2020=) c.5266G= (p.Gly1756=) c.8428G= (p.Gly2810=) | |
8 | g.60865370G>T | CA371309293 | CHD7 | n.1607G>T n.538G>T c.*1490G>T (n.*1490G>T) c.8431G>T (p.Gly2811Cys) c.2284G>T (p.Gly762Cys) n.477G>T c.8521G>T (p.Gly2841Cys) c.8518G>T (p.Gly2840Cys) c.8299G>T (p.Gly2767Cys) c.6508G>T (p.Gly2170Cys) c.6058G>T (p.Gly2020Cys) c.5266G>T (p.Gly1756Cys) c.8428G>T (p.Gly2810Cys) | |
8 | g.60865371G>A | CA371309304 | CHD7 | n.1608G>A n.539G>A c.*1491G>A (n.*1491G>A) c.8432G>A (p.Gly2811Asp) c.2285G>A (p.Gly762Asp) n.478G>A c.8522G>A (p.Gly2841Asp) c.8519G>A (p.Gly2840Asp) c.8300G>A (p.Gly2767Asp) c.6509G>A (p.Gly2170Asp) c.6059G>A (p.Gly2020Asp) c.5267G>A (p.Gly1756Asp) c.8429G>A (p.Gly2810Asp) | gnomAD v4 |
8 | g.60865371G>C | CA371309309 | CHD7 | n.1608G>C n.539G>C c.*1491G>C (n.*1491G>C) c.8432G>C (p.Gly2811Ala) c.2285G>C (p.Gly762Ala) n.478G>C c.8522G>C (p.Gly2841Ala) c.8519G>C (p.Gly2840Ala) c.8300G>C (p.Gly2767Ala) c.6509G>C (p.Gly2170Ala) c.6059G>C (p.Gly2020Ala) c.5267G>C (p.Gly1756Ala) c.8429G>C (p.Gly2810Ala) | |
8 | g.60865371G>T | CA371309323 | CHD7 | n.1608G>T n.539G>T c.*1491G>T (n.*1491G>T) c.8432G>T (p.Gly2811Val) c.2285G>T (p.Gly762Val) n.478G>T c.8522G>T (p.Gly2841Val) c.8519G>T (p.Gly2840Val) c.8300G>T (p.Gly2767Val) c.6509G>T (p.Gly2170Val) c.6059G>T (p.Gly2020Val) c.5267G>T (p.Gly1756Val) c.8429G>T (p.Gly2810Val) | gnomAD v4 |
8 | g.60865372C>A | CA461106000 | CHD7 | n.1609C>A n.540C>A c.*1492C>A (n.*1492C>A) c.8433C>A (p.Gly2811=) c.2286C>A (p.Gly762=) n.479C>A c.8523C>A (p.Gly2841=) c.8520C>A (p.Gly2840=) c.8301C>A (p.Gly2767=) c.6510C>A (p.Gly2170=) c.6060C>A (p.Gly2020=) c.5268C>A (p.Gly1756=) c.8430C>A (p.Gly2810=) | gnomAD v4 |
8 | g.60865372C>G | CA461106001 | CHD7 | n.1609C>G n.540C>G c.*1492C>G (n.*1492C>G) c.8433C>G (p.Gly2811=) c.2286C>G (p.Gly762=) n.479C>G c.8523C>G (p.Gly2841=) c.8520C>G (p.Gly2840=) c.8301C>G (p.Gly2767=) c.6510C>G (p.Gly2170=) c.6060C>G (p.Gly2020=) c.5268C>G (p.Gly1756=) c.8430C>G (p.Gly2810=) | |
8 | g.60865372C>T | CA461106002 | CHD7 | n.1609C>T n.540C>T c.*1492C>T (n.*1492C>T) c.8433C>T (p.Gly2811=) c.2286C>T (p.Gly762=) n.479C>T c.8523C>T (p.Gly2841=) c.8520C>T (p.Gly2840=) c.8301C>T (p.Gly2767=) c.6510C>T (p.Gly2170=) c.6060C>T (p.Gly2020=) c.5268C>T (p.Gly1756=) c.8430C>T (p.Gly2810=) | gnomAD v4 |
8 | g.60865373T>A | CA371309334 | CHD7 | n.1610T>A n.541T>A c.*1493T>A (n.*1493T>A) c.8434T>A (p.Leu2812Met) c.2287T>A (p.Leu763Met) n.480T>A c.8524T>A (p.Leu2842Met) c.8521T>A (p.Leu2841Met) c.8302T>A (p.Leu2768Met) c.6511T>A (p.Leu2171Met) c.6061T>A (p.Leu2021Met) c.5269T>A (p.Leu1757Met) c.8431T>A (p.Leu2811Met) | |
8 | g.60865373T>C | CA461106003 | CHD7 | n.1610T>C n.541T>C c.*1493T>C (n.*1493T>C) c.8434T>C (p.Leu2812=) c.2287T>C (p.Leu763=) n.480T>C c.8524T>C (p.Leu2842=) c.8521T>C (p.Leu2841=) c.8302T>C (p.Leu2768=) c.6511T>C (p.Leu2171=) c.6061T>C (p.Leu2021=) c.5269T>C (p.Leu1757=) c.8431T>C (p.Leu2811=) | |
8 | g.60865373T>G | CA371309329 | CHD7 | n.1610T>G n.541T>G c.*1493T>G (n.*1493T>G) c.8434T>G (p.Leu2812Val) c.2287T>G (p.Leu763Val) n.480T>G c.8524T>G (p.Leu2842Val) c.8521T>G (p.Leu2841Val) c.8302T>G (p.Leu2768Val) c.6511T>G (p.Leu2171Val) c.6061T>G (p.Leu2021Val) c.5269T>G (p.Leu1757Val) c.8431T>G (p.Leu2811Val) | |
8 | g.60865374T>A | CA371309340 | CHD7 | n.1611T>A n.542T>A c.*1494T>A (n.*1494T>A) c.8435T>A (p.Leu2812Ter) c.2288T>A (p.Leu763Ter) n.481T>A c.8525T>A (p.Leu2842Ter) c.8522T>A (p.Leu2841Ter) c.8303T>A (p.Leu2768Ter) c.6512T>A (p.Leu2171Ter) c.6062T>A (p.Leu2021Ter) c.5270T>A (p.Leu1757Ter) c.8432T>A (p.Leu2811Ter) | |
8 | g.60865374T>C | CA371309342 | CHD7 | n.1611T>C n.542T>C c.*1494T>C (n.*1494T>C) c.8435T>C (p.Leu2812Ser) c.2288T>C (p.Leu763Ser) n.481T>C c.8525T>C (p.Leu2842Ser) c.8522T>C (p.Leu2841Ser) c.8303T>C (p.Leu2768Ser) c.6512T>C (p.Leu2171Ser) c.6062T>C (p.Leu2021Ser) c.5270T>C (p.Leu1757Ser) c.8432T>C (p.Leu2811Ser) | |
8 | g.60865374T>G | CA371309347 | CHD7 | n.1611T>G n.542T>G c.*1494T>G (n.*1494T>G) c.8435T>G (p.Leu2812Trp) c.2288T>G (p.Leu763Trp) n.481T>G c.8525T>G (p.Leu2842Trp) c.8522T>G (p.Leu2841Trp) c.8303T>G (p.Leu2768Trp) c.6512T>G (p.Leu2171Trp) c.6062T>G (p.Leu2021Trp) c.5270T>G (p.Leu1757Trp) c.8432T>G (p.Leu2811Trp) | |
8 | g.60865375G>A | CA461106009 | CHD7 | n.1612G>A n.543G>A c.*1495G>A (n.*1495G>A) c.8436G>A (p.Leu2812=) c.2289G>A (p.Leu763=) n.482G>A c.8526G>A (p.Leu2842=) c.8523G>A (p.Leu2841=) c.8304G>A (p.Leu2768=) c.6513G>A (p.Leu2171=) c.6063G>A (p.Leu2021=) c.5271G>A (p.Leu1757=) c.8433G>A (p.Leu2811=) | |
8 | g.60865375G>C | CA371309352 | CHD7 | n.1612G>C n.543G>C c.*1495G>C (n.*1495G>C) c.8436G>C (p.Leu2812Phe) c.2289G>C (p.Leu763Phe) n.482G>C c.8526G>C (p.Leu2842Phe) c.8523G>C (p.Leu2841Phe) c.8304G>C (p.Leu2768Phe) c.6513G>C (p.Leu2171Phe) c.6063G>C (p.Leu2021Phe) c.5271G>C (p.Leu1757Phe) c.8433G>C (p.Leu2811Phe) | gnomAD v4 |
8 | g.60865375G= | CA1788130155 | CHD7 | n.1612G= n.543G= c.*1495G= (n.*1495G=) c.8436G= (p.Leu2812=) c.2289G= (p.Leu763=) n.482G= c.8526G= (p.Leu2842=) c.8523G= (p.Leu2841=) c.8304G= (p.Leu2768=) c.6513G= (p.Leu2171=) c.6063G= (p.Leu2021=) c.5271G= (p.Leu1757=) c.8433G= (p.Leu2811=) | |
8 | g.60865375G>T | CA4761016 | CHD7 | n.1612G>T n.543G>T c.*1495G>T (n.*1495G>T) c.8436G>T (p.Leu2812Phe) c.2289G>T (p.Leu763Phe) n.482G>T c.8526G>T (p.Leu2842Phe) c.8523G>T (p.Leu2841Phe) c.8304G>T (p.Leu2768Phe) c.6513G>T (p.Leu2171Phe) c.6063G>T (p.Leu2021Phe) c.5271G>T (p.Leu1757Phe) c.8433G>T (p.Leu2811Phe) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.60865376G>A | CA371309360 | CHD7 | n.1613G>A n.544G>A c.*1496G>A (n.*1496G>A) c.8437G>A (p.Gly2813Ser) c.2290G>A (p.Gly764Ser) n.483G>A c.8527G>A (p.Gly2843Ser) c.8524G>A (p.Gly2842Ser) c.8305G>A (p.Gly2769Ser) c.6514G>A (p.Gly2172Ser) c.6064G>A (p.Gly2022Ser) c.5272G>A (p.Gly1758Ser) c.8434G>A (p.Gly2812Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865376G>C | CA371309364 | CHD7 | n.1613G>C n.544G>C c.*1496G>C (n.*1496G>C) c.8437G>C (p.Gly2813Arg) c.2290G>C (p.Gly764Arg) n.483G>C c.8527G>C (p.Gly2843Arg) c.8524G>C (p.Gly2842Arg) c.8305G>C (p.Gly2769Arg) c.6514G>C (p.Gly2172Arg) c.6064G>C (p.Gly2022Arg) c.5272G>C (p.Gly1758Arg) c.8434G>C (p.Gly2812Arg) | |
8 | g.60865376G= | CA1788130161 | CHD7 | n.1613G= n.544G= c.*1496G= (n.*1496G=) c.8437G= (p.Gly2813=) c.2290G= (p.Gly764=) n.483G= c.8527G= (p.Gly2843=) c.8524G= (p.Gly2842=) c.8305G= (p.Gly2769=) c.6514G= (p.Gly2172=) c.6064G= (p.Gly2022=) c.5272G= (p.Gly1758=) c.8434G= (p.Gly2812=) | |
8 | g.60865376G>T | CA371309368 | CHD7 | n.1613G>T n.544G>T c.*1496G>T (n.*1496G>T) c.8437G>T (p.Gly2813Cys) c.2290G>T (p.Gly764Cys) n.483G>T c.8527G>T (p.Gly2843Cys) c.8524G>T (p.Gly2842Cys) c.8305G>T (p.Gly2769Cys) c.6514G>T (p.Gly2172Cys) c.6064G>T (p.Gly2022Cys) c.5272G>T (p.Gly1758Cys) c.8434G>T (p.Gly2812Cys) | |
8 | g.60865377G>A | CA371309382 | CHD7 | n.1614G>A n.545G>A c.*1497G>A (n.*1497G>A) c.8438G>A (p.Gly2813Asp) c.2291G>A (p.Gly764Asp) n.484G>A c.8528G>A (p.Gly2843Asp) c.8525G>A (p.Gly2842Asp) c.8306G>A (p.Gly2769Asp) c.6515G>A (p.Gly2172Asp) c.6065G>A (p.Gly2022Asp) c.5273G>A (p.Gly1758Asp) c.8435G>A (p.Gly2812Asp) | |
8 | g.60865377G>C | CA371309387 | CHD7 | n.1614G>C n.545G>C c.*1497G>C (n.*1497G>C) c.8438G>C (p.Gly2813Ala) c.2291G>C (p.Gly764Ala) n.484G>C c.8528G>C (p.Gly2843Ala) c.8525G>C (p.Gly2842Ala) c.8306G>C (p.Gly2769Ala) c.6515G>C (p.Gly2172Ala) c.6065G>C (p.Gly2022Ala) c.5273G>C (p.Gly1758Ala) c.8435G>C (p.Gly2812Ala) | |
8 | g.60865377G= | CA1788130167 | CHD7 | n.1614G= n.545G= c.*1497G= (n.*1497G=) c.8438G= (p.Gly2813=) c.2291G= (p.Gly764=) n.484G= c.8528G= (p.Gly2843=) c.8525G= (p.Gly2842=) c.8306G= (p.Gly2769=) c.6515G= (p.Gly2172=) c.6065G= (p.Gly2022=) c.5273G= (p.Gly1758=) c.8435G= (p.Gly2812=) | |
8 | g.60865377G>T | CA4761017 | CHD7 | n.1614G>T n.545G>T c.*1497G>T (n.*1497G>T) c.8438G>T (p.Gly2813Val) c.2291G>T (p.Gly764Val) n.484G>T c.8528G>T (p.Gly2843Val) c.8525G>T (p.Gly2842Val) c.8306G>T (p.Gly2769Val) c.6515G>T (p.Gly2172Val) c.6065G>T (p.Gly2022Val) c.5273G>T (p.Gly1758Val) c.8435G>T (p.Gly2812Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865378C>A | CA461106019 | CHD7 | n.1615C>A n.546C>A c.*1498C>A (n.*1498C>A) c.8439C>A (p.Gly2813=) c.2292C>A (p.Gly764=) n.485C>A c.8529C>A (p.Gly2843=) c.8526C>A (p.Gly2842=) c.8307C>A (p.Gly2769=) c.6516C>A (p.Gly2172=) c.6066C>A (p.Gly2022=) c.5274C>A (p.Gly1758=) c.8436C>A (p.Gly2812=) | |
8 | g.60865378C= | CA1788130175 | CHD7 | n.1615C= n.546C= c.*1498C= (n.*1498C=) c.8439C= (p.Gly2813=) c.2292C= (p.Gly764=) n.485C= c.8529C= (p.Gly2843=) c.8526C= (p.Gly2842=) c.8307C= (p.Gly2769=) c.6516C= (p.Gly2172=) c.6066C= (p.Gly2022=) c.5274C= (p.Gly1758=) c.8436C= (p.Gly2812=) | |
8 | g.60865378C>G | CA461106020 | CHD7 | n.1615C>G n.546C>G c.*1498C>G (n.*1498C>G) c.8439C>G (p.Gly2813=) c.2292C>G (p.Gly764=) n.485C>G c.8529C>G (p.Gly2843=) c.8526C>G (p.Gly2842=) c.8307C>G (p.Gly2769=) c.6516C>G (p.Gly2172=) c.6066C>G (p.Gly2022=) c.5274C>G (p.Gly1758=) c.8436C>G (p.Gly2812=) | ClinVar dbSNP |
8 | g.60865378C>T | CA148891 | CHD7 | n.1615C>T n.546C>T c.*1498C>T (n.*1498C>T) c.8439C>T (p.Gly2813=) c.2292C>T (p.Gly764=) n.485C>T c.8529C>T (p.Gly2843=) c.8526C>T (p.Gly2842=) c.8307C>T (p.Gly2769=) c.6516C>T (p.Gly2172=) c.6066C>T (p.Gly2022=) c.5274C>T (p.Gly1758=) c.8436C>T (p.Gly2812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865379G>A | CA177329554 | CHD7 | n.1616G>A n.547G>A c.*1499G>A (n.*1499G>A) c.8440G>A (p.Gly2814Arg) c.2293G>A (p.Gly765Arg) n.486G>A c.8530G>A (p.Gly2844Arg) c.8527G>A (p.Gly2843Arg) c.8308G>A (p.Gly2770Arg) c.6517G>A (p.Gly2173Arg) c.6067G>A (p.Gly2023Arg) c.5275G>A (p.Gly1759Arg) c.8437G>A (p.Gly2813Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865379G>C | CA371309402 | CHD7 | n.1616G>C n.547G>C c.*1499G>C (n.*1499G>C) c.8440G>C (p.Gly2814Arg) c.2293G>C (p.Gly765Arg) n.486G>C c.8530G>C (p.Gly2844Arg) c.8527G>C (p.Gly2843Arg) c.8308G>C (p.Gly2770Arg) c.6517G>C (p.Gly2173Arg) c.6067G>C (p.Gly2023Arg) c.5275G>C (p.Gly1759Arg) c.8437G>C (p.Gly2813Arg) | |
8 | g.60865379G= | CA1788130186 | CHD7 | n.1616G= n.547G= c.*1499G= (n.*1499G=) c.8440G= (p.Gly2814=) c.2293G= (p.Gly765=) n.486G= c.8530G= (p.Gly2844=) c.8527G= (p.Gly2843=) c.8308G= (p.Gly2770=) c.6517G= (p.Gly2173=) c.6067G= (p.Gly2023=) c.5275G= (p.Gly1759=) c.8437G= (p.Gly2813=) | |
8 | g.60865379G>T | CA371309396 | CHD7 | n.1616G>T n.547G>T c.*1499G>T (n.*1499G>T) c.8440G>T (p.Gly2814Trp) c.2293G>T (p.Gly765Trp) n.486G>T c.8530G>T (p.Gly2844Trp) c.8527G>T (p.Gly2843Trp) c.8308G>T (p.Gly2770Trp) c.6517G>T (p.Gly2173Trp) c.6067G>T (p.Gly2023Trp) c.5275G>T (p.Gly1759Trp) c.8437G>T (p.Gly2813Trp) | |
8 | g.60865381del | CA2579174038 | CHD7 | n.1618del n.549del c.*1501del (n.*1501del) c.8442del (p.Leu2815CysfsTer2) c.2295del (p.Leu766CysfsTer2) n.488del c.8532del (p.Leu2845CysfsTer2) c.8529del (p.Leu2844CysfsTer2) c.8310del (p.Leu2771CysfsTer2) c.6519del (p.Leu2174CysfsTer2) c.6069del (p.Leu2024CysfsTer2) c.5277del (p.Leu1760CysfsTer2) c.8439del (p.Leu2814CysfsTer2) | |
8 | g.60865380G>A | CA371309412 | CHD7 | n.1617G>A n.548G>A c.*1500G>A (n.*1500G>A) c.8441G>A (p.Gly2814Glu) c.2294G>A (p.Gly765Glu) n.487G>A c.8531G>A (p.Gly2844Glu) c.8528G>A (p.Gly2843Glu) c.8309G>A (p.Gly2770Glu) c.6518G>A (p.Gly2173Glu) c.6068G>A (p.Gly2023Glu) c.5276G>A (p.Gly1759Glu) c.8438G>A (p.Gly2813Glu) | |
8 | g.60865380G>C | CA371309415 | CHD7 | n.1617G>C n.548G>C c.*1500G>C (n.*1500G>C) c.8441G>C (p.Gly2814Ala) c.2294G>C (p.Gly765Ala) n.487G>C c.8531G>C (p.Gly2844Ala) c.8528G>C (p.Gly2843Ala) c.8309G>C (p.Gly2770Ala) c.6518G>C (p.Gly2173Ala) c.6068G>C (p.Gly2023Ala) c.5276G>C (p.Gly1759Ala) c.8438G>C (p.Gly2813Ala) | |
8 | g.60865380G>T | CA371309422 | CHD7 | n.1617G>T n.548G>T c.*1500G>T (n.*1500G>T) c.8441G>T (p.Gly2814Val) c.2294G>T (p.Gly765Val) n.487G>T c.8531G>T (p.Gly2844Val) c.8528G>T (p.Gly2843Val) c.8309G>T (p.Gly2770Val) c.6518G>T (p.Gly2173Val) c.6068G>T (p.Gly2023Val) c.5276G>T (p.Gly1759Val) c.8438G>T (p.Gly2813Val) | |
8 | g.60865381G>A | CA4761018 | CHD7 | n.1618G>A n.549G>A c.*1501G>A (n.*1501G>A) c.8442G>A (p.Gly2814=) c.2295G>A (p.Gly765=) n.488G>A c.8532G>A (p.Gly2844=) c.8529G>A (p.Gly2843=) c.8310G>A (p.Gly2770=) c.6519G>A (p.Gly2173=) c.6069G>A (p.Gly2023=) c.5277G>A (p.Gly1759=) c.8439G>A (p.Gly2813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865381G>C | CA461106024 | CHD7 | n.1618G>C n.549G>C c.*1501G>C (n.*1501G>C) c.8442G>C (p.Gly2814=) c.2295G>C (p.Gly765=) n.488G>C c.8532G>C (p.Gly2844=) c.8529G>C (p.Gly2843=) c.8310G>C (p.Gly2770=) c.6519G>C (p.Gly2173=) c.6069G>C (p.Gly2023=) c.5277G>C (p.Gly1759=) c.8439G>C (p.Gly2813=) | |
8 | g.60865381G= | CA1788130191 | CHD7 | n.1618G= n.549G= c.*1501G= (n.*1501G=) c.8442G= (p.Gly2814=) c.2295G= (p.Gly765=) n.488G= c.8532G= (p.Gly2844=) c.8529G= (p.Gly2843=) c.8310G= (p.Gly2770=) c.6519G= (p.Gly2173=) c.6069G= (p.Gly2023=) c.5277G= (p.Gly1759=) c.8439G= (p.Gly2813=) | |
8 | g.60865381G>T | CA461106026 | CHD7 | n.1618G>T n.549G>T c.*1501G>T (n.*1501G>T) c.8442G>T (p.Gly2814=) c.2295G>T (p.Gly765=) n.488G>T c.8532G>T (p.Gly2844=) c.8529G>T (p.Gly2843=) c.8310G>T (p.Gly2770=) c.6519G>T (p.Gly2173=) c.6069G>T (p.Gly2023=) c.5277G>T (p.Gly1759=) c.8439G>T (p.Gly2813=) | |
8 | g.60865382C>A | CA371309429 | CHD7 | n.1619C>A n.550C>A c.*1502C>A (n.*1502C>A) c.8443C>A (p.Leu2815Met) c.2296C>A (p.Leu766Met) n.489C>A c.8533C>A (p.Leu2845Met) c.8530C>A (p.Leu2844Met) c.8311C>A (p.Leu2771Met) c.6520C>A (p.Leu2174Met) c.6070C>A (p.Leu2024Met) c.5278C>A (p.Leu1760Met) c.8440C>A (p.Leu2814Met) | |
8 | g.60865382C>G | CA371309430 | CHD7 | n.1619C>G n.550C>G c.*1502C>G (n.*1502C>G) c.8443C>G (p.Leu2815Val) c.2296C>G (p.Leu766Val) n.489C>G c.8533C>G (p.Leu2845Val) c.8530C>G (p.Leu2844Val) c.8311C>G (p.Leu2771Val) c.6520C>G (p.Leu2174Val) c.6070C>G (p.Leu2024Val) c.5278C>G (p.Leu1760Val) c.8440C>G (p.Leu2814Val) | |
8 | g.60865382C>T | CA461106029 | CHD7 | n.1619C>T n.550C>T c.*1502C>T (n.*1502C>T) c.8443C>T (p.Leu2815=) c.2296C>T (p.Leu766=) n.489C>T c.8533C>T (p.Leu2845=) c.8530C>T (p.Leu2844=) c.8311C>T (p.Leu2771=) c.6520C>T (p.Leu2174=) c.6070C>T (p.Leu2024=) c.5278C>T (p.Leu1760=) c.8440C>T (p.Leu2814=) | gnomAD v4 |
8 | g.60865383T>A | CA371309434 | CHD7 | n.1620T>A n.551T>A c.*1503T>A (n.*1503T>A) c.8444T>A (p.Leu2815Gln) c.2297T>A (p.Leu766Gln) n.490T>A c.8534T>A (p.Leu2845Gln) c.8531T>A (p.Leu2844Gln) c.8312T>A (p.Leu2771Gln) c.6521T>A (p.Leu2174Gln) c.6071T>A (p.Leu2024Gln) c.5279T>A (p.Leu1760Gln) c.8441T>A (p.Leu2814Gln) | |
8 | g.60865383T>C | CA371309439 | CHD7 | n.1620T>C n.551T>C c.*1503T>C (n.*1503T>C) c.8444T>C (p.Leu2815Pro) c.2297T>C (p.Leu766Pro) n.490T>C c.8534T>C (p.Leu2845Pro) c.8531T>C (p.Leu2844Pro) c.8312T>C (p.Leu2771Pro) c.6521T>C (p.Leu2174Pro) c.6071T>C (p.Leu2024Pro) c.5279T>C (p.Leu1760Pro) c.8441T>C (p.Leu2814Pro) | |
8 | g.60865383T>G | CA371309443 | CHD7 | n.1620T>G n.551T>G c.*1503T>G (n.*1503T>G) c.8444T>G (p.Leu2815Arg) c.2297T>G (p.Leu766Arg) n.490T>G c.8534T>G (p.Leu2845Arg) c.8531T>G (p.Leu2844Arg) c.8312T>G (p.Leu2771Arg) c.6521T>G (p.Leu2174Arg) c.6071T>G (p.Leu2024Arg) c.5279T>G (p.Leu1760Arg) c.8441T>G (p.Leu2814Arg) | |
8 | g.60865384G>A | CA461106032 | CHD7 | n.1621G>A n.552G>A c.*1504G>A (n.*1504G>A) c.8445G>A (p.Leu2815=) c.2298G>A (p.Leu766=) n.491G>A c.8535G>A (p.Leu2845=) c.8532G>A (p.Leu2844=) c.8313G>A (p.Leu2771=) c.6522G>A (p.Leu2174=) c.6072G>A (p.Leu2024=) c.5280G>A (p.Leu1760=) c.8442G>A (p.Leu2814=) | |
8 | g.60865384G>C | CA461106033 | CHD7 | n.1621G>C n.552G>C c.*1504G>C (n.*1504G>C) c.8445G>C (p.Leu2815=) c.2298G>C (p.Leu766=) n.491G>C c.8535G>C (p.Leu2845=) c.8532G>C (p.Leu2844=) c.8313G>C (p.Leu2771=) c.6522G>C (p.Leu2174=) c.6072G>C (p.Leu2024=) c.5280G>C (p.Leu1760=) c.8442G>C (p.Leu2814=) | |
8 | g.60865384G>T | CA461106035 | CHD7 | n.1621G>T n.552G>T c.*1504G>T (n.*1504G>T) c.8445G>T (p.Leu2815=) c.2298G>T (p.Leu766=) n.491G>T c.8535G>T (p.Leu2845=) c.8532G>T (p.Leu2844=) c.8313G>T (p.Leu2771=) c.6522G>T (p.Leu2174=) c.6072G>T (p.Leu2024=) c.5280G>T (p.Leu1760=) c.8442G>T (p.Leu2814=) | |
8 | g.60865385T>A | CA371309459 | CHD7 | n.1622T>A n.553T>A c.*1505T>A (n.*1505T>A) c.8446T>A (p.Leu2816Met) c.2299T>A (p.Leu767Met) n.492T>A c.8536T>A (p.Leu2846Met) c.8533T>A (p.Leu2845Met) c.8314T>A (p.Leu2772Met) c.6523T>A (p.Leu2175Met) c.6073T>A (p.Leu2025Met) c.5281T>A (p.Leu1761Met) c.8443T>A (p.Leu2815Met) | |
8 | g.60865385T>C | CA244937 | CHD7 | n.1622T>C n.553T>C c.*1505T>C (n.*1505T>C) c.8446T>C (p.Leu2816=) c.2299T>C (p.Leu767=) n.492T>C c.8536T>C (p.Leu2846=) c.8533T>C (p.Leu2845=) c.8314T>C (p.Leu2772=) c.6523T>C (p.Leu2175=) c.6073T>C (p.Leu2025=) c.5281T>C (p.Leu1761=) c.8443T>C (p.Leu2815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865385T>G | CA371309463 | CHD7 | n.1622T>G n.553T>G c.*1505T>G (n.*1505T>G) c.8446T>G (p.Leu2816Val) c.2299T>G (p.Leu767Val) n.492T>G c.8536T>G (p.Leu2846Val) c.8533T>G (p.Leu2845Val) c.8314T>G (p.Leu2772Val) c.6523T>G (p.Leu2175Val) c.6073T>G (p.Leu2025Val) c.5281T>G (p.Leu1761Val) c.8443T>G (p.Leu2815Val) | |
8 | g.60865385T= | CA1788130203 | CHD7 | n.1622T= n.553T= c.*1505T= (n.*1505T=) c.8446T= (p.Leu2816=) c.2299T= (p.Leu767=) n.492T= c.8536T= (p.Leu2846=) c.8533T= (p.Leu2845=) c.8314T= (p.Leu2772=) c.6523T= (p.Leu2175=) c.6073T= (p.Leu2025=) c.5281T= (p.Leu1761=) c.8443T= (p.Leu2815=) | |
8 | g.60865386T>A | CA371309477 | CHD7 | n.1623T>A n.554T>A c.*1506T>A (n.*1506T>A) c.8447T>A (p.Leu2816Ter) c.2300T>A (p.Leu767Ter) n.493T>A c.8537T>A (p.Leu2846Ter) c.8534T>A (p.Leu2845Ter) c.8315T>A (p.Leu2772Ter) c.6524T>A (p.Leu2175Ter) c.6074T>A (p.Leu2025Ter) c.5282T>A (p.Leu1761Ter) c.8444T>A (p.Leu2815Ter) | |
8 | g.60865386T>C | CA371309472 | CHD7 | n.1623T>C n.554T>C c.*1506T>C (n.*1506T>C) c.8447T>C (p.Leu2816Ser) c.2300T>C (p.Leu767Ser) n.493T>C c.8537T>C (p.Leu2846Ser) c.8534T>C (p.Leu2845Ser) c.8315T>C (p.Leu2772Ser) c.6524T>C (p.Leu2175Ser) c.6074T>C (p.Leu2025Ser) c.5282T>C (p.Leu1761Ser) c.8444T>C (p.Leu2815Ser) | |
8 | g.60865386T>G | CA371309468 | CHD7 | n.1623T>G n.554T>G c.*1506T>G (n.*1506T>G) c.8447T>G (p.Leu2816Trp) c.2300T>G (p.Leu767Trp) n.493T>G c.8537T>G (p.Leu2846Trp) c.8534T>G (p.Leu2845Trp) c.8315T>G (p.Leu2772Trp) c.6524T>G (p.Leu2175Trp) c.6074T>G (p.Leu2025Trp) c.5282T>G (p.Leu1761Trp) c.8444T>G (p.Leu2815Trp) | |
8 | g.60865387G>A | CA461106040 | CHD7 | n.1624G>A n.555G>A c.*1507G>A (n.*1507G>A) c.8448G>A (p.Leu2816=) c.2301G>A (p.Leu767=) n.494G>A c.8538G>A (p.Leu2846=) c.8535G>A (p.Leu2845=) c.8316G>A (p.Leu2772=) c.6525G>A (p.Leu2175=) c.6075G>A (p.Leu2025=) c.5283G>A (p.Leu1761=) c.8445G>A (p.Leu2815=) | |
8 | g.60865387G>C | CA371309482 | CHD7 | n.1624G>C n.555G>C c.*1507G>C (n.*1507G>C) c.8448G>C (p.Leu2816Phe) c.2301G>C (p.Leu767Phe) n.494G>C c.8538G>C (p.Leu2846Phe) c.8535G>C (p.Leu2845Phe) c.8316G>C (p.Leu2772Phe) c.6525G>C (p.Leu2175Phe) c.6075G>C (p.Leu2025Phe) c.5283G>C (p.Leu1761Phe) c.8445G>C (p.Leu2815Phe) | |
8 | g.60865387G>T | CA371309485 | CHD7 | n.1624G>T n.555G>T c.*1507G>T (n.*1507G>T) c.8448G>T (p.Leu2816Phe) c.2301G>T (p.Leu767Phe) n.494G>T c.8538G>T (p.Leu2846Phe) c.8535G>T (p.Leu2845Phe) c.8316G>T (p.Leu2772Phe) c.6525G>T (p.Leu2175Phe) c.6075G>T (p.Leu2025Phe) c.5283G>T (p.Leu1761Phe) c.8445G>T (p.Leu2815Phe) | |
8 | g.60865388A>C | CA371309490 | CHD7 | n.1625A>C n.556A>C c.*1508A>C (n.*1508A>C) c.8449A>C (p.Asn2817His) c.2302A>C (p.Asn768His) n.495A>C c.8539A>C (p.Asn2847His) c.8536A>C (p.Asn2846His) c.8317A>C (p.Asn2773His) c.6526A>C (p.Asn2176His) c.6076A>C (p.Asn2026His) c.5284A>C (p.Asn1762His) c.8446A>C (p.Asn2816His) | |
8 | g.60865388A>G | CA371309494 | CHD7 | n.1625A>G n.556A>G c.*1508A>G (n.*1508A>G) c.8449A>G (p.Asn2817Asp) c.2302A>G (p.Asn768Asp) n.495A>G c.8539A>G (p.Asn2847Asp) c.8536A>G (p.Asn2846Asp) c.8317A>G (p.Asn2773Asp) c.6526A>G (p.Asn2176Asp) c.6076A>G (p.Asn2026Asp) c.5284A>G (p.Asn1762Asp) c.8446A>G (p.Asn2816Asp) | |
8 | g.60865388A>T | CA371309500 | CHD7 | n.1625A>T n.556A>T c.*1508A>T (n.*1508A>T) c.8449A>T (p.Asn2817Tyr) c.2302A>T (p.Asn768Tyr) n.495A>T c.8539A>T (p.Asn2847Tyr) c.8536A>T (p.Asn2846Tyr) c.8317A>T (p.Asn2773Tyr) c.6526A>T (p.Asn2176Tyr) c.6076A>T (p.Asn2026Tyr) c.5284A>T (p.Asn1762Tyr) c.8446A>T (p.Asn2816Tyr) | |
8 | g.60865389A>C | CA371309506 | CHD7 | n.1626A>C n.557A>C c.*1509A>C (n.*1509A>C) c.8450A>C (p.Asn2817Thr) c.2303A>C (p.Asn768Thr) n.496A>C c.8540A>C (p.Asn2847Thr) c.8537A>C (p.Asn2846Thr) c.8318A>C (p.Asn2773Thr) c.6527A>C (p.Asn2176Thr) c.6077A>C (p.Asn2026Thr) c.5285A>C (p.Asn1762Thr) c.8447A>C (p.Asn2816Thr) | |
8 | g.60865389A>G | CA371309512 | CHD7 | n.1626A>G n.557A>G c.*1509A>G (n.*1509A>G) c.8450A>G (p.Asn2817Ser) c.2303A>G (p.Asn768Ser) n.496A>G c.8540A>G (p.Asn2847Ser) c.8537A>G (p.Asn2846Ser) c.8318A>G (p.Asn2773Ser) c.6527A>G (p.Asn2176Ser) c.6077A>G (p.Asn2026Ser) c.5285A>G (p.Asn1762Ser) c.8447A>G (p.Asn2816Ser) | gnomAD v4 COSMIC |
8 | g.60865389A>T | CA371309516 | CHD7 | n.1626A>T n.557A>T c.*1509A>T (n.*1509A>T) c.8450A>T (p.Asn2817Ile) c.2303A>T (p.Asn768Ile) n.496A>T c.8540A>T (p.Asn2847Ile) c.8537A>T (p.Asn2846Ile) c.8318A>T (p.Asn2773Ile) c.6527A>T (p.Asn2176Ile) c.6077A>T (p.Asn2026Ile) c.5285A>T (p.Asn1762Ile) c.8447A>T (p.Asn2816Ile) | COSMIC |
8 | g.60865390T>A | CA371309523 | CHD7 | n.1627T>A n.558T>A c.*1510T>A (n.*1510T>A) c.8451T>A (p.Asn2817Lys) c.2304T>A (p.Asn768Lys) n.497T>A c.8541T>A (p.Asn2847Lys) c.8538T>A (p.Asn2846Lys) c.8319T>A (p.Asn2773Lys) c.6528T>A (p.Asn2176Lys) c.6078T>A (p.Asn2026Lys) c.5286T>A (p.Asn1762Lys) c.8448T>A (p.Asn2816Lys) | |
8 | g.60865390T>C | CA461106049 | CHD7 | n.1627T>C n.558T>C c.*1510T>C (n.*1510T>C) c.8451T>C (p.Asn2817=) c.2304T>C (p.Asn768=) n.497T>C c.8541T>C (p.Asn2847=) c.8538T>C (p.Asn2846=) c.8319T>C (p.Asn2773=) c.6528T>C (p.Asn2176=) c.6078T>C (p.Asn2026=) c.5286T>C (p.Asn1762=) c.8448T>C (p.Asn2816=) | gnomAD v4 |
8 | g.60865390T>G | CA371309538 | CHD7 | n.1627T>G n.558T>G c.*1510T>G (n.*1510T>G) c.8451T>G (p.Asn2817Lys) c.2304T>G (p.Asn768Lys) n.497T>G c.8541T>G (p.Asn2847Lys) c.8538T>G (p.Asn2846Lys) c.8319T>G (p.Asn2773Lys) c.6528T>G (p.Asn2176Lys) c.6078T>G (p.Asn2026Lys) c.5286T>G (p.Asn1762Lys) c.8448T>G (p.Asn2816Lys) | |
8 | g.60865390T= | CA1788130218 | CHD7 | n.1627T= n.558T= c.*1510T= (n.*1510T=) c.8451T= (p.Asn2817=) c.2304T= (p.Asn768=) n.497T= c.8541T= (p.Asn2847=) c.8538T= (p.Asn2846=) c.8319T= (p.Asn2773=) c.6528T= (p.Asn2176=) c.6078T= (p.Asn2026=) c.5286T= (p.Asn1762=) c.8448T= (p.Asn2816=) | |
8 | g.60865391_60865398dup | CA2695203182 | CHD7 | n.1628_1635dup n.559_566dup c.*1511_*1518dup (n.*1511_*1518dup) c.8452_8459dup (p.Ser2821ThrfsTer?) c.2305_2312dup (p.Ser772ThrfsTer?) n.498_505dup c.8542_8549dup (p.Ser2851ThrfsTer?) c.8539_8546dup (p.Ser2850ThrfsTer?) c.8320_8327dup (p.Ser2777ThrfsTer?) c.6529_6536dup (p.Ser2180ThrfsTer?) c.6079_6086dup (p.Ser2030ThrfsTer?) c.5287_5294dup (p.Ser1766ThrfsTer?) c.8449_8456dup (p.Ser2820ThrfsTer?) | |
8 | g.60865391A>C | CA371309544 | CHD7 | n.1628A>C n.559A>C c.*1511A>C (n.*1511A>C) c.8452A>C (p.Asn2818His) c.2305A>C (p.Asn769His) n.498A>C c.8542A>C (p.Asn2848His) c.8539A>C (p.Asn2847His) c.8320A>C (p.Asn2774His) c.6529A>C (p.Asn2177His) c.6079A>C (p.Asn2027His) c.5287A>C (p.Asn1763His) c.8449A>C (p.Asn2817His) | |
8 | g.60865391A>G | CA371309549 | CHD7 | n.1628A>G n.559A>G c.*1511A>G (n.*1511A>G) c.8452A>G (p.Asn2818Asp) c.2305A>G (p.Asn769Asp) n.498A>G c.8542A>G (p.Asn2848Asp) c.8539A>G (p.Asn2847Asp) c.8320A>G (p.Asn2774Asp) c.6529A>G (p.Asn2177Asp) c.6079A>G (p.Asn2027Asp) c.5287A>G (p.Asn1763Asp) c.8449A>G (p.Asn2817Asp) | gnomAD v4 |
8 | g.60865391A>T | CA371309552 | CHD7 | n.1628A>T n.559A>T c.*1511A>T (n.*1511A>T) c.8452A>T (p.Asn2818Tyr) c.2305A>T (p.Asn769Tyr) n.498A>T c.8542A>T (p.Asn2848Tyr) c.8539A>T (p.Asn2847Tyr) c.8320A>T (p.Asn2774Tyr) c.6529A>T (p.Asn2177Tyr) c.6079A>T (p.Asn2027Tyr) c.5287A>T (p.Asn1763Tyr) c.8449A>T (p.Asn2817Tyr) | |
8 | g.60865391_60865393dup | CA582403679 | CHD7 | n.1628_1630dup n.559_561dup c.*1511_*1513dup (n.*1511_*1513dup) c.8452_8454dup (p.Asn2818_Pro2819insAsn) c.2305_2307dup (p.Asn769_Pro770insAsn) n.498_500dup c.8542_8544dup (p.Asn2848_Pro2849insAsn) c.8539_8541dup (p.Asn2847_Pro2848insAsn) c.8320_8322dup (p.Asn2774_Pro2775insAsn) c.6529_6531dup (p.Asn2177_Pro2178insAsn) c.6079_6081dup (p.Asn2027_Pro2028insAsn) c.5287_5289dup (p.Asn1763_Pro1764insAsn) c.8449_8451dup (p.Asn2817_Pro2818insAsn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865392_60865402dup | CA275232 | CHD7 | n.1629_1639dup n.560_570dup c.*1512_*1522dup (n.*1512_*1522dup) c.8453_8463dup (p.Ala2822ThrfsTer?) c.2306_2316dup (p.Ala773ThrfsTer?) n.499_509dup c.8543_8553dup (p.Ala2852ThrfsTer?) c.8540_8550dup (p.Ala2851ThrfsTer?) c.8321_8331dup (p.Ala2778ThrfsTer?) c.6530_6540dup (p.Ala2181ThrfsTer?) c.6080_6090dup (p.Ala2031ThrfsTer?) c.5288_5298dup (p.Ala1767ThrfsTer?) c.8450_8460dup (p.Ala2821ThrfsTer?) | ClinVar dbSNP |
8 | g.60865392A= | CA1788130238 | CHD7 | n.1629A= n.560A= c.*1512A= (n.*1512A=) c.8453A= (p.Asn2818=) c.2306A= (p.Asn769=) n.499A= c.8543A= (p.Asn2848=) c.8540A= (p.Asn2847=) c.8321A= (p.Asn2774=) c.6530A= (p.Asn2177=) c.6080A= (p.Asn2027=) c.5288A= (p.Asn1763=) c.8450A= (p.Asn2817=) | |
8 | g.60865392A>C | CA371309562 | CHD7 | n.1629A>C n.560A>C c.*1512A>C (n.*1512A>C) c.8453A>C (p.Asn2818Thr) c.2306A>C (p.Asn769Thr) n.499A>C c.8543A>C (p.Asn2848Thr) c.8540A>C (p.Asn2847Thr) c.8321A>C (p.Asn2774Thr) c.6530A>C (p.Asn2177Thr) c.6080A>C (p.Asn2027Thr) c.5288A>C (p.Asn1763Thr) c.8450A>C (p.Asn2817Thr) | dbSNP |
8 | g.60865392A>G | CA4761019 | CHD7 | n.1629A>G n.560A>G c.*1512A>G (n.*1512A>G) c.8453A>G (p.Asn2818Ser) c.2306A>G (p.Asn769Ser) n.499A>G c.8543A>G (p.Asn2848Ser) c.8540A>G (p.Asn2847Ser) c.8321A>G (p.Asn2774Ser) c.6530A>G (p.Asn2177Ser) c.6080A>G (p.Asn2027Ser) c.5288A>G (p.Asn1763Ser) c.8450A>G (p.Asn2817Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865392A>T | CA371309558 | CHD7 | n.1629A>T n.560A>T c.*1512A>T (n.*1512A>T) c.8453A>T (p.Asn2818Ile) c.2306A>T (p.Asn769Ile) n.499A>T c.8543A>T (p.Asn2848Ile) c.8540A>T (p.Asn2847Ile) c.8321A>T (p.Asn2774Ile) c.6530A>T (p.Asn2177Ile) c.6080A>T (p.Asn2027Ile) c.5288A>T (p.Asn1763Ile) c.8450A>T (p.Asn2817Ile) | |
8 | g.60865393C>A | CA371309568 | CHD7 | n.1630C>A n.561C>A c.*1513C>A (n.*1513C>A) c.8454C>A (p.Asn2818Lys) c.2307C>A (p.Asn769Lys) n.500C>A c.8544C>A (p.Asn2848Lys) c.8541C>A (p.Asn2847Lys) c.8322C>A (p.Asn2774Lys) c.6531C>A (p.Asn2177Lys) c.6081C>A (p.Asn2027Lys) c.5289C>A (p.Asn1763Lys) c.8451C>A (p.Asn2817Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865393C= | CA1788130248 | CHD7 | n.1630C= n.561C= c.*1513C= (n.*1513C=) c.8454C= (p.Asn2818=) c.2307C= (p.Asn769=) n.500C= c.8544C= (p.Asn2848=) c.8541C= (p.Asn2847=) c.8322C= (p.Asn2774=) c.6531C= (p.Asn2177=) c.6081C= (p.Asn2027=) c.5289C= (p.Asn1763=) c.8451C= (p.Asn2817=) | |
8 | g.60865393C>G | CA371309570 | CHD7 | n.1630C>G n.561C>G c.*1513C>G (n.*1513C>G) c.8454C>G (p.Asn2818Lys) c.2307C>G (p.Asn769Lys) n.500C>G c.8544C>G (p.Asn2848Lys) c.8541C>G (p.Asn2847Lys) c.8322C>G (p.Asn2774Lys) c.6531C>G (p.Asn2177Lys) c.6081C>G (p.Asn2027Lys) c.5289C>G (p.Asn1763Lys) c.8451C>G (p.Asn2817Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865393C>T | CA461106053 | CHD7 | n.1630C>T n.561C>T c.*1513C>T (n.*1513C>T) c.8454C>T (p.Asn2818=) c.2307C>T (p.Asn769=) n.500C>T c.8544C>T (p.Asn2848=) c.8541C>T (p.Asn2847=) c.8322C>T (p.Asn2774=) c.6531C>T (p.Asn2177=) c.6081C>T (p.Asn2027=) c.5289C>T (p.Asn1763=) c.8451C>T (p.Asn2817=) | ClinVar gnomAD v4 |
8 | g.60865395del | CA2573053046 | CHD7 | n.1632del n.563del c.*1515del (n.*1515del) c.8456del (p.Pro2819LeufsTer?) c.2309del (p.Pro770LeufsTer?) n.502del c.8546del (p.Pro2849LeufsTer?) c.8543del (p.Pro2848LeufsTer?) c.8324del (p.Pro2775LeufsTer?) c.6533del (p.Pro2178LeufsTer?) c.6083del (p.Pro2028LeufsTer?) c.5291del (p.Pro1764LeufsTer?) c.8453del (p.Pro2818LeufsTer?) | ClinVar dbSNP |
8 | g.60865394C>A | CA371309577 | CHD7 | n.1631C>A n.562C>A c.*1514C>A (n.*1514C>A) c.8455C>A (p.Pro2819Thr) c.2308C>A (p.Pro770Thr) n.501C>A c.8545C>A (p.Pro2849Thr) c.8542C>A (p.Pro2848Thr) c.8323C>A (p.Pro2775Thr) c.6532C>A (p.Pro2178Thr) c.6082C>A (p.Pro2028Thr) c.5290C>A (p.Pro1764Thr) c.8452C>A (p.Pro2818Thr) | |
8 | g.60865394C>G | CA371309581 | CHD7 | n.1631C>G n.562C>G c.*1514C>G (n.*1514C>G) c.8455C>G (p.Pro2819Ala) c.2308C>G (p.Pro770Ala) n.501C>G c.8545C>G (p.Pro2849Ala) c.8542C>G (p.Pro2848Ala) c.8323C>G (p.Pro2775Ala) c.6532C>G (p.Pro2178Ala) c.6082C>G (p.Pro2028Ala) c.5290C>G (p.Pro1764Ala) c.8452C>G (p.Pro2818Ala) | |
8 | g.60865394C>T | CA371309584 | CHD7 | n.1631C>T n.562C>T c.*1514C>T (n.*1514C>T) c.8455C>T (p.Pro2819Ser) c.2308C>T (p.Pro770Ser) n.501C>T c.8545C>T (p.Pro2849Ser) c.8542C>T (p.Pro2848Ser) c.8323C>T (p.Pro2775Ser) c.6532C>T (p.Pro2178Ser) c.6082C>T (p.Pro2028Ser) c.5290C>T (p.Pro1764Ser) c.8452C>T (p.Pro2818Ser) | gnomAD v4 COSMIC |
8 | g.60865394_60865396delinsCCT | CA1788130256 | CHD7 | n.1631_1633delinsCCT n.562_564delinsCCT c.*1514_*1516delinsCCT (n.*1514_*1516delinsCCT) c.8455_8457delinsCCT (p.Pro2819=) c.2308_2310delinsCCT (p.Pro770=) n.501_503delinsCCT c.8545_8547delinsCCT (p.Pro2849=) c.8542_8544delinsCCT (p.Pro2848=) c.8323_8325delinsCCT (p.Pro2775=) c.6532_6534delinsCCT (p.Pro2178=) c.6082_6084delinsCCT (p.Pro2028=) c.5290_5292delinsCCT (p.Pro1764=) c.8452_8454delinsCCT (p.Pro2818=) | |
8 | g.60865395C>A | CA371309591 | CHD7 | n.1632C>A n.563C>A c.*1515C>A (n.*1515C>A) c.8456C>A (p.Pro2819His) c.2309C>A (p.Pro770His) n.502C>A c.8546C>A (p.Pro2849His) c.8543C>A (p.Pro2848His) c.8324C>A (p.Pro2775His) c.6533C>A (p.Pro2178His) c.6083C>A (p.Pro2028His) c.5291C>A (p.Pro1764His) c.8453C>A (p.Pro2818His) | |
8 | g.60865395C>G | CA371309594 | CHD7 | n.1632C>G n.563C>G c.*1515C>G (n.*1515C>G) c.8456C>G (p.Pro2819Arg) c.2309C>G (p.Pro770Arg) n.502C>G c.8546C>G (p.Pro2849Arg) c.8543C>G (p.Pro2848Arg) c.8324C>G (p.Pro2775Arg) c.6533C>G (p.Pro2178Arg) c.6083C>G (p.Pro2028Arg) c.5291C>G (p.Pro1764Arg) c.8453C>G (p.Pro2818Arg) | gnomAD v4 |
8 | g.60865395C>T | CA371309603 | CHD7 | n.1632C>T n.563C>T c.*1515C>T (n.*1515C>T) c.8456C>T (p.Pro2819Leu) c.2309C>T (p.Pro770Leu) n.502C>T c.8546C>T (p.Pro2849Leu) c.8543C>T (p.Pro2848Leu) c.8324C>T (p.Pro2775Leu) c.6533C>T (p.Pro2178Leu) c.6083C>T (p.Pro2028Leu) c.5291C>T (p.Pro1764Leu) c.8453C>T (p.Pro2818Leu) | |
8 | g.60865397_60865398dup | CA2695203183 | CHD7 | n.1634_1635dup n.565_566dup c.*1517_*1518dup (n.*1517_*1518dup) c.8458_8459dup (p.Ser2821CysfsTer?) c.2311_2312dup (p.Ser772CysfsTer?) n.504_505dup c.8548_8549dup (p.Ser2851CysfsTer?) c.8545_8546dup (p.Ser2850CysfsTer?) c.8326_8327dup (p.Ser2777CysfsTer?) c.6535_6536dup (p.Ser2180CysfsTer?) c.6085_6086dup (p.Ser2030CysfsTer?) c.5293_5294dup (p.Ser1766CysfsTer?) c.8455_8456dup (p.Ser2820CysfsTer?) | |
8 | g.60865397_60865398del | CA10602479 | CHD7 | n.1634_1635del n.565_566del c.*1517_*1518del (n.*1517_*1518del) c.8458_8459del (p.Leu2820ValfsTer12) c.2311_2312del (p.Leu771ValfsTer12) n.504_505del c.8548_8549del (p.Leu2850ValfsTer12) c.8545_8546del (p.Leu2849ValfsTer12) c.8326_8327del (p.Leu2776ValfsTer12) c.6535_6536del (p.Leu2179ValfsTer12) c.6085_6086del (p.Leu2029ValfsTer12) c.5293_5294del (p.Leu1765ValfsTer12) c.8455_8456del (p.Leu2819ValfsTer12) | ClinVar dbSNP |
8 | g.60865396T>A | CA461106058 | CHD7 | n.1633T>A n.564T>A c.*1516T>A (n.*1516T>A) c.8457T>A (p.Pro2819=) c.2310T>A (p.Pro770=) n.503T>A c.8547T>A (p.Pro2849=) c.8544T>A (p.Pro2848=) c.8325T>A (p.Pro2775=) c.6534T>A (p.Pro2178=) c.6084T>A (p.Pro2028=) c.5292T>A (p.Pro1764=) c.8454T>A (p.Pro2818=) | |
8 | g.60865396T>C | CA461106059 | CHD7 | n.1633T>C n.564T>C c.*1516T>C (n.*1516T>C) c.8457T>C (p.Pro2819=) c.2310T>C (p.Pro770=) n.503T>C c.8547T>C (p.Pro2849=) c.8544T>C (p.Pro2848=) c.8325T>C (p.Pro2775=) c.6534T>C (p.Pro2178=) c.6084T>C (p.Pro2028=) c.5292T>C (p.Pro1764=) c.8454T>C (p.Pro2818=) | |
8 | g.60865396T>G | CA461106060 | CHD7 | n.1633T>G n.564T>G c.*1516T>G (n.*1516T>G) c.8457T>G (p.Pro2819=) c.2310T>G (p.Pro770=) n.503T>G c.8547T>G (p.Pro2849=) c.8544T>G (p.Pro2848=) c.8325T>G (p.Pro2775=) c.6534T>G (p.Pro2178=) c.6084T>G (p.Pro2028=) c.5292T>G (p.Pro1764=) c.8454T>G (p.Pro2818=) | |
8 | g.60865397C>A | CA371309609 | CHD7 | n.1634C>A n.565C>A c.*1517C>A (n.*1517C>A) c.8458C>A (p.Leu2820Met) c.2311C>A (p.Leu771Met) n.504C>A c.8548C>A (p.Leu2850Met) c.8545C>A (p.Leu2849Met) c.8326C>A (p.Leu2776Met) c.6535C>A (p.Leu2179Met) c.6085C>A (p.Leu2029Met) c.5293C>A (p.Leu1765Met) c.8455C>A (p.Leu2819Met) | |
8 | g.60865397C= | CA1788130270 | CHD7 | n.1634C= n.565C= c.*1517C= (n.*1517C=) c.8458C= (p.Leu2820=) c.2311C= (p.Leu771=) n.504C= c.8548C= (p.Leu2850=) c.8545C= (p.Leu2849=) c.8326C= (p.Leu2776=) c.6535C= (p.Leu2179=) c.6085C= (p.Leu2029=) c.5293C= (p.Leu1765=) c.8455C= (p.Leu2819=) | |
8 | g.60865397C>G | CA371309613 | CHD7 | n.1634C>G n.565C>G c.*1517C>G (n.*1517C>G) c.8458C>G (p.Leu2820Val) c.2311C>G (p.Leu771Val) n.504C>G c.8548C>G (p.Leu2850Val) c.8545C>G (p.Leu2849Val) c.8326C>G (p.Leu2776Val) c.6535C>G (p.Leu2179Val) c.6085C>G (p.Leu2029Val) c.5293C>G (p.Leu1765Val) c.8455C>G (p.Leu2819Val) | |
8 | g.60865397C>T | CA461106061 | CHD7 | n.1634C>T n.565C>T c.*1517C>T (n.*1517C>T) c.8458C>T (p.Leu2820=) c.2311C>T (p.Leu771=) n.504C>T c.8548C>T (p.Leu2850=) c.8545C>T (p.Leu2849=) c.8326C>T (p.Leu2776=) c.6535C>T (p.Leu2179=) c.6085C>T (p.Leu2029=) c.5293C>T (p.Leu1765=) c.8455C>T (p.Leu2819=) | dbSNP |
8 | g.60865398T>A | CA371309627 | CHD7 | n.1635T>A n.566T>A c.*1518T>A (n.*1518T>A) c.8459T>A (p.Leu2820Gln) c.2312T>A (p.Leu771Gln) n.505T>A c.8549T>A (p.Leu2850Gln) c.8546T>A (p.Leu2849Gln) c.8327T>A (p.Leu2776Gln) c.6536T>A (p.Leu2179Gln) c.6086T>A (p.Leu2029Gln) c.5294T>A (p.Leu1765Gln) c.8456T>A (p.Leu2819Gln) | |
8 | g.60865398T>C | CA371309624 | CHD7 | n.1635T>C n.566T>C c.*1518T>C (n.*1518T>C) c.8459T>C (p.Leu2820Pro) c.2312T>C (p.Leu771Pro) n.505T>C c.8549T>C (p.Leu2850Pro) c.8546T>C (p.Leu2849Pro) c.8327T>C (p.Leu2776Pro) c.6536T>C (p.Leu2179Pro) c.6086T>C (p.Leu2029Pro) c.5294T>C (p.Leu1765Pro) c.8456T>C (p.Leu2819Pro) | gnomAD v4 |
8 | g.60865398T>G | CA371309618 | CHD7 | n.1635T>G n.566T>G c.*1518T>G (n.*1518T>G) c.8459T>G (p.Leu2820Arg) c.2312T>G (p.Leu771Arg) n.505T>G c.8549T>G (p.Leu2850Arg) c.8546T>G (p.Leu2849Arg) c.8327T>G (p.Leu2776Arg) c.6536T>G (p.Leu2179Arg) c.6086T>G (p.Leu2029Arg) c.5294T>G (p.Leu1765Arg) c.8456T>G (p.Leu2819Arg) | |
8 | g.60865399_60865400dup | CA2695203184 | CHD7 | n.1636_1637dup n.567_568dup c.*1519_*1520dup (n.*1519_*1520dup) c.8460_8461dup (p.Ser2821CysfsTer?) c.2313_2314dup (p.Ser772CysfsTer?) n.506_507dup c.8550_8551dup (p.Ser2851CysfsTer?) c.8547_8548dup (p.Ser2850CysfsTer?) c.8328_8329dup (p.Ser2777CysfsTer?) c.6537_6538dup (p.Ser2180CysfsTer?) c.6087_6088dup (p.Ser2030CysfsTer?) c.5295_5296dup (p.Ser1766CysfsTer?) c.8457_8458dup (p.Ser2820CysfsTer?) | |
8 | g.60865399G>A | CA461106063 | CHD7 | n.1636G>A n.567G>A c.*1519G>A (n.*1519G>A) c.8460G>A (p.Leu2820=) c.2313G>A (p.Leu771=) n.506G>A c.8550G>A (p.Leu2850=) c.8547G>A (p.Leu2849=) c.8328G>A (p.Leu2776=) c.6537G>A (p.Leu2179=) c.6087G>A (p.Leu2029=) c.5295G>A (p.Leu1765=) c.8457G>A (p.Leu2819=) | |
8 | g.60865399G>C | CA461106065 | CHD7 | n.1636G>C n.567G>C c.*1519G>C (n.*1519G>C) c.8460G>C (p.Leu2820=) c.2313G>C (p.Leu771=) n.506G>C c.8550G>C (p.Leu2850=) c.8547G>C (p.Leu2849=) c.8328G>C (p.Leu2776=) c.6537G>C (p.Leu2179=) c.6087G>C (p.Leu2029=) c.5295G>C (p.Leu1765=) c.8457G>C (p.Leu2819=) | |
8 | g.60865399G>T | CA461106067 | CHD7 | n.1636G>T n.567G>T c.*1519G>T (n.*1519G>T) c.8460G>T (p.Leu2820=) c.2313G>T (p.Leu771=) n.506G>T c.8550G>T (p.Leu2850=) c.8547G>T (p.Leu2849=) c.8328G>T (p.Leu2776=) c.6537G>T (p.Leu2179=) c.6087G>T (p.Leu2029=) c.5295G>T (p.Leu1765=) c.8457G>T (p.Leu2819=) | |
8 | g.60865400T>A | CA371309634 | CHD7 | n.1637T>A n.568T>A c.*1520T>A (n.*1520T>A) c.8461T>A (p.Ser2821Thr) c.2314T>A (p.Ser772Thr) n.507T>A c.8551T>A (p.Ser2851Thr) c.8548T>A (p.Ser2850Thr) c.8329T>A (p.Ser2777Thr) c.6538T>A (p.Ser2180Thr) c.6088T>A (p.Ser2030Thr) c.5296T>A (p.Ser1766Thr) c.8458T>A (p.Ser2820Thr) | |
8 | g.60865400T>C | CA371309636 | CHD7 | n.1637T>C n.568T>C c.*1520T>C (n.*1520T>C) c.8461T>C (p.Ser2821Pro) c.2314T>C (p.Ser772Pro) n.507T>C c.8551T>C (p.Ser2851Pro) c.8548T>C (p.Ser2850Pro) c.8329T>C (p.Ser2777Pro) c.6538T>C (p.Ser2180Pro) c.6088T>C (p.Ser2030Pro) c.5296T>C (p.Ser1766Pro) c.8458T>C (p.Ser2820Pro) | |
8 | g.60865400T>G | CA371309642 | CHD7 | n.1637T>G n.568T>G c.*1520T>G (n.*1520T>G) c.8461T>G (p.Ser2821Ala) c.2314T>G (p.Ser772Ala) n.507T>G c.8551T>G (p.Ser2851Ala) c.8548T>G (p.Ser2850Ala) c.8329T>G (p.Ser2777Ala) c.6538T>G (p.Ser2180Ala) c.6088T>G (p.Ser2030Ala) c.5296T>G (p.Ser1766Ala) c.8458T>G (p.Ser2820Ala) | |
8 | g.60865401C>A | CA371309646 | CHD7 | n.1638C>A n.569C>A c.*1521C>A (n.*1521C>A) c.8462C>A (p.Ser2821Ter) c.2315C>A (p.Ser772Ter) n.508C>A c.8552C>A (p.Ser2851Ter) c.8549C>A (p.Ser2850Ter) c.8330C>A (p.Ser2777Ter) c.6539C>A (p.Ser2180Ter) c.6089C>A (p.Ser2030Ter) c.5297C>A (p.Ser1766Ter) c.8459C>A (p.Ser2820Ter) | |
8 | g.60865401C>G | CA371309650 | CHD7 | n.1638C>G n.569C>G c.*1521C>G (n.*1521C>G) c.8462C>G (p.Ser2821Ter) c.2315C>G (p.Ser772Ter) n.508C>G c.8552C>G (p.Ser2851Ter) c.8549C>G (p.Ser2850Ter) c.8330C>G (p.Ser2777Ter) c.6539C>G (p.Ser2180Ter) c.6089C>G (p.Ser2030Ter) c.5297C>G (p.Ser1766Ter) c.8459C>G (p.Ser2820Ter) | |
8 | g.60865401C>T | CA371309651 | CHD7 | n.1638C>T n.569C>T c.*1521C>T (n.*1521C>T) c.8462C>T (p.Ser2821Leu) c.2315C>T (p.Ser772Leu) n.508C>T c.8552C>T (p.Ser2851Leu) c.8549C>T (p.Ser2850Leu) c.8330C>T (p.Ser2777Leu) c.6539C>T (p.Ser2180Leu) c.6089C>T (p.Ser2030Leu) c.5297C>T (p.Ser1766Leu) c.8459C>T (p.Ser2820Leu) | |
8 | g.60865402A>C | CA461106068 | CHD7 | n.1639A>C n.570A>C c.*1522A>C (n.*1522A>C) c.8463A>C (p.Ser2821=) c.2316A>C (p.Ser772=) n.509A>C c.8553A>C (p.Ser2851=) c.8550A>C (p.Ser2850=) c.8331A>C (p.Ser2777=) c.6540A>C (p.Ser2180=) c.6090A>C (p.Ser2030=) c.5298A>C (p.Ser1766=) c.8460A>C (p.Ser2820=) | |
8 | g.60865402A>G | CA461106069 | CHD7 | n.1639A>G n.570A>G c.*1522A>G (n.*1522A>G) c.8463A>G (p.Ser2821=) c.2316A>G (p.Ser772=) n.509A>G c.8553A>G (p.Ser2851=) c.8550A>G (p.Ser2850=) c.8331A>G (p.Ser2777=) c.6540A>G (p.Ser2180=) c.6090A>G (p.Ser2030=) c.5298A>G (p.Ser1766=) c.8460A>G (p.Ser2820=) | |
8 | g.60865402A>T | CA461106070 | CHD7 | n.1639A>T n.570A>T c.*1522A>T (n.*1522A>T) c.8463A>T (p.Ser2821=) c.2316A>T (p.Ser772=) n.509A>T c.8553A>T (p.Ser2851=) c.8550A>T (p.Ser2850=) c.8331A>T (p.Ser2777=) c.6540A>T (p.Ser2180=) c.6090A>T (p.Ser2030=) c.5298A>T (p.Ser1766=) c.8460A>T (p.Ser2820=) | |
8 | g.60865403G>A | CA371309652 | CHD7 | n.1640G>A n.571G>A c.*1523G>A (n.*1523G>A) c.8464G>A (p.Ala2822Thr) c.2317G>A (p.Ala773Thr) n.510G>A c.8554G>A (p.Ala2852Thr) c.8551G>A (p.Ala2851Thr) c.8332G>A (p.Ala2778Thr) c.6541G>A (p.Ala2181Thr) c.6091G>A (p.Ala2031Thr) c.5299G>A (p.Ala1767Thr) c.8461G>A (p.Ala2821Thr) | dbSNP gnomAD v4 |
8 | g.60865403G>C | CA371309655 | CHD7 | n.1640G>C n.571G>C c.*1523G>C (n.*1523G>C) c.8464G>C (p.Ala2822Pro) c.2317G>C (p.Ala773Pro) n.510G>C c.8554G>C (p.Ala2852Pro) c.8551G>C (p.Ala2851Pro) c.8332G>C (p.Ala2778Pro) c.6541G>C (p.Ala2181Pro) c.6091G>C (p.Ala2031Pro) c.5299G>C (p.Ala1767Pro) c.8461G>C (p.Ala2821Pro) | gnomAD v4 |
8 | g.60865403G= | CA1788130275 | CHD7 | n.1640G= n.571G= c.*1523G= (n.*1523G=) c.8464G= (p.Ala2822=) c.2317G= (p.Ala773=) n.510G= c.8554G= (p.Ala2852=) c.8551G= (p.Ala2851=) c.8332G= (p.Ala2778=) c.6541G= (p.Ala2181=) c.6091G= (p.Ala2031=) c.5299G= (p.Ala1767=) c.8461G= (p.Ala2821=) | |
8 | g.60865403G>T | CA371309659 | CHD7 | n.1640G>T n.571G>T c.*1523G>T (n.*1523G>T) c.8464G>T (p.Ala2822Ser) c.2317G>T (p.Ala773Ser) n.510G>T c.8554G>T (p.Ala2852Ser) c.8551G>T (p.Ala2851Ser) c.8332G>T (p.Ala2778Ser) c.6541G>T (p.Ala2181Ser) c.6091G>T (p.Ala2031Ser) c.5299G>T (p.Ala1767Ser) c.8461G>T (p.Ala2821Ser) | |
8 | g.60865404C>A | CA371309663 | CHD7 | n.1641C>A n.572C>A c.*1524C>A (n.*1524C>A) c.8465C>A (p.Ala2822Asp) c.2318C>A (p.Ala773Asp) n.511C>A c.8555C>A (p.Ala2852Asp) c.8552C>A (p.Ala2851Asp) c.8333C>A (p.Ala2778Asp) c.6542C>A (p.Ala2181Asp) c.6092C>A (p.Ala2031Asp) c.5300C>A (p.Ala1767Asp) c.8462C>A (p.Ala2821Asp) | |
8 | g.60865404C= | CA1788130299 | CHD7 | n.1641C= n.572C= c.*1524C= (n.*1524C=) c.8465C= (p.Ala2822=) c.2318C= (p.Ala773=) n.511C= c.8555C= (p.Ala2852=) c.8552C= (p.Ala2851=) c.8333C= (p.Ala2778=) c.6542C= (p.Ala2181=) c.6092C= (p.Ala2031=) c.5300C= (p.Ala1767=) c.8462C= (p.Ala2821=) | |
8 | g.60865404C>G | CA371309666 | CHD7 | n.1641C>G n.572C>G c.*1524C>G (n.*1524C>G) c.8465C>G (p.Ala2822Gly) c.2318C>G (p.Ala773Gly) n.511C>G c.8555C>G (p.Ala2852Gly) c.8552C>G (p.Ala2851Gly) c.8333C>G (p.Ala2778Gly) c.6542C>G (p.Ala2181Gly) c.6092C>G (p.Ala2031Gly) c.5300C>G (p.Ala1767Gly) c.8462C>G (p.Ala2821Gly) | dbSNP |
8 | g.60865404C>T | CA371309669 | CHD7 | n.1641C>T n.572C>T c.*1524C>T (n.*1524C>T) c.8465C>T (p.Ala2822Val) c.2318C>T (p.Ala773Val) n.511C>T c.8555C>T (p.Ala2852Val) c.8552C>T (p.Ala2851Val) c.8333C>T (p.Ala2778Val) c.6542C>T (p.Ala2181Val) c.6092C>T (p.Ala2031Val) c.5300C>T (p.Ala1767Val) c.8462C>T (p.Ala2821Val) | |
8 | g.60865405T>A | CA461106072 | CHD7 | n.1642T>A n.573T>A c.*1525T>A (n.*1525T>A) c.8466T>A (p.Ala2822=) c.2319T>A (p.Ala773=) n.512T>A c.8556T>A (p.Ala2852=) c.8553T>A (p.Ala2851=) c.8334T>A (p.Ala2778=) c.6543T>A (p.Ala2181=) c.6093T>A (p.Ala2031=) c.5301T>A (p.Ala1767=) c.8463T>A (p.Ala2821=) | |
8 | g.60865405T>C | CA461106075 | CHD7 | n.1642T>C n.573T>C c.*1525T>C (n.*1525T>C) c.8466T>C (p.Ala2822=) c.2319T>C (p.Ala773=) n.512T>C c.8556T>C (p.Ala2852=) c.8553T>C (p.Ala2851=) c.8334T>C (p.Ala2778=) c.6543T>C (p.Ala2181=) c.6093T>C (p.Ala2031=) c.5301T>C (p.Ala1767=) c.8463T>C (p.Ala2821=) | |
8 | g.60865405T>G | CA461106078 | CHD7 | n.1642T>G n.573T>G c.*1525T>G (n.*1525T>G) c.8466T>G (p.Ala2822=) c.2319T>G (p.Ala773=) n.512T>G c.8556T>G (p.Ala2852=) c.8553T>G (p.Ala2851=) c.8334T>G (p.Ala2778=) c.6543T>G (p.Ala2181=) c.6093T>G (p.Ala2031=) c.5301T>G (p.Ala1767=) c.8463T>G (p.Ala2821=) | dbSNP |
8 | g.60865405T= | CA1788130307 | CHD7 | n.1642T= n.573T= c.*1525T= (n.*1525T=) c.8466T= (p.Ala2822=) c.2319T= (p.Ala773=) n.512T= c.8556T= (p.Ala2852=) c.8553T= (p.Ala2851=) c.8334T= (p.Ala2778=) c.6543T= (p.Ala2181=) c.6093T= (p.Ala2031=) c.5301T= (p.Ala1767=) c.8463T= (p.Ala2821=) | |
8 | g.60865406G>A | CA371309682 | CHD7 | n.1643G>A n.574G>A c.*1526G>A (n.*1526G>A) c.8467G>A (p.Ala2823Thr) c.2320G>A (p.Ala774Thr) n.513G>A c.8557G>A (p.Ala2853Thr) c.8554G>A (p.Ala2852Thr) c.8335G>A (p.Ala2779Thr) c.6544G>A (p.Ala2182Thr) c.6094G>A (p.Ala2032Thr) c.5302G>A (p.Ala1768Thr) c.8464G>A (p.Ala2822Thr) | |
8 | g.60865406G>C | CA371309677 | CHD7 | n.1643G>C n.574G>C c.*1526G>C (n.*1526G>C) c.8467G>C (p.Ala2823Pro) c.2320G>C (p.Ala774Pro) n.513G>C c.8557G>C (p.Ala2853Pro) c.8554G>C (p.Ala2852Pro) c.8335G>C (p.Ala2779Pro) c.6544G>C (p.Ala2182Pro) c.6094G>C (p.Ala2032Pro) c.5302G>C (p.Ala1768Pro) c.8464G>C (p.Ala2822Pro) | |
8 | g.60865406G>T | CA371309681 | CHD7 | n.1643G>T n.574G>T c.*1526G>T (n.*1526G>T) c.8467G>T (p.Ala2823Ser) c.2320G>T (p.Ala774Ser) n.513G>T c.8557G>T (p.Ala2853Ser) c.8554G>T (p.Ala2852Ser) c.8335G>T (p.Ala2779Ser) c.6544G>T (p.Ala2182Ser) c.6094G>T (p.Ala2032Ser) c.5302G>T (p.Ala1768Ser) c.8464G>T (p.Ala2822Ser) | ClinVar gnomAD v4 |
8 | g.60865407C>A | CA371309683 | CHD7 | n.1644C>A n.575C>A c.*1527C>A (n.*1527C>A) c.8468C>A (p.Ala2823Asp) c.2321C>A (p.Ala774Asp) n.514C>A c.8558C>A (p.Ala2853Asp) c.8555C>A (p.Ala2852Asp) c.8336C>A (p.Ala2779Asp) c.6545C>A (p.Ala2182Asp) c.6095C>A (p.Ala2032Asp) c.5303C>A (p.Ala1768Asp) c.8465C>A (p.Ala2822Asp) | |
8 | g.60865407C>G | CA371309685 | CHD7 | n.1644C>G n.575C>G c.*1527C>G (n.*1527C>G) c.8468C>G (p.Ala2823Gly) c.2321C>G (p.Ala774Gly) n.514C>G c.8558C>G (p.Ala2853Gly) c.8555C>G (p.Ala2852Gly) c.8336C>G (p.Ala2779Gly) c.6545C>G (p.Ala2182Gly) c.6095C>G (p.Ala2032Gly) c.5303C>G (p.Ala1768Gly) c.8465C>G (p.Ala2822Gly) | |
8 | g.60865407C>T | CA371309688 | CHD7 | n.1644C>T n.575C>T c.*1527C>T (n.*1527C>T) c.8468C>T (p.Ala2823Val) c.2321C>T (p.Ala774Val) n.514C>T c.8558C>T (p.Ala2853Val) c.8555C>T (p.Ala2852Val) c.8336C>T (p.Ala2779Val) c.6545C>T (p.Ala2182Val) c.6095C>T (p.Ala2032Val) c.5303C>T (p.Ala1768Val) c.8465C>T (p.Ala2822Val) | |
8 | g.60865408T>A | CA461106082 | CHD7 | n.1645T>A n.576T>A c.*1528T>A (n.*1528T>A) c.8469T>A (p.Ala2823=) c.2322T>A (p.Ala774=) n.515T>A c.8559T>A (p.Ala2853=) c.8556T>A (p.Ala2852=) c.8337T>A (p.Ala2779=) c.6546T>A (p.Ala2182=) c.6096T>A (p.Ala2032=) c.5304T>A (p.Ala1768=) c.8466T>A (p.Ala2822=) | |
8 | g.60865408T>C | CA461106083 | CHD7 | n.1645T>C n.576T>C c.*1528T>C (n.*1528T>C) c.8469T>C (p.Ala2823=) c.2322T>C (p.Ala774=) n.515T>C c.8559T>C (p.Ala2853=) c.8556T>C (p.Ala2852=) c.8337T>C (p.Ala2779=) c.6546T>C (p.Ala2182=) c.6096T>C (p.Ala2032=) c.5304T>C (p.Ala1768=) c.8466T>C (p.Ala2822=) | |
8 | g.60865408T>G | CA461106084 | CHD7 | n.1645T>G n.576T>G c.*1528T>G (n.*1528T>G) c.8469T>G (p.Ala2823=) c.2322T>G (p.Ala774=) n.515T>G c.8559T>G (p.Ala2853=) c.8556T>G (p.Ala2852=) c.8337T>G (p.Ala2779=) c.6546T>G (p.Ala2182=) c.6096T>G (p.Ala2032=) c.5304T>G (p.Ala1768=) c.8466T>G (p.Ala2822=) | |
8 | g.60865409A= | CA1788130314 | CHD7 | n.1646A= n.577A= c.*1529A= (n.*1529A=) c.8470A= (p.Thr2824=) c.2323A= (p.Thr775=) n.516A= c.8560A= (p.Thr2854=) c.8557A= (p.Thr2853=) c.8338A= (p.Thr2780=) c.6547A= (p.Thr2183=) c.6097A= (p.Thr2033=) c.5305A= (p.Thr1769=) c.8467A= (p.Thr2823=) | |
8 | g.60865409A>C | CA371309689 | CHD7 | n.1646A>C n.577A>C c.*1529A>C (n.*1529A>C) c.8470A>C (p.Thr2824Pro) c.2323A>C (p.Thr775Pro) n.516A>C c.8560A>C (p.Thr2854Pro) c.8557A>C (p.Thr2853Pro) c.8338A>C (p.Thr2780Pro) c.6547A>C (p.Thr2183Pro) c.6097A>C (p.Thr2033Pro) c.5305A>C (p.Thr1769Pro) c.8467A>C (p.Thr2823Pro) | ClinVar |
8 | g.60865409A>G | CA371309690 | CHD7 | n.1646A>G n.577A>G c.*1529A>G (n.*1529A>G) c.8470A>G (p.Thr2824Ala) c.2323A>G (p.Thr775Ala) n.516A>G c.8560A>G (p.Thr2854Ala) c.8557A>G (p.Thr2853Ala) c.8338A>G (p.Thr2780Ala) c.6547A>G (p.Thr2183Ala) c.6097A>G (p.Thr2033Ala) c.5305A>G (p.Thr1769Ala) c.8467A>G (p.Thr2823Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865409A>T | CA371309693 | CHD7 | n.1646A>T n.577A>T c.*1529A>T (n.*1529A>T) c.8470A>T (p.Thr2824Ser) c.2323A>T (p.Thr775Ser) n.516A>T c.8560A>T (p.Thr2854Ser) c.8557A>T (p.Thr2853Ser) c.8338A>T (p.Thr2780Ser) c.6547A>T (p.Thr2183Ser) c.6097A>T (p.Thr2033Ser) c.5305A>T (p.Thr1769Ser) c.8467A>T (p.Thr2823Ser) | |
8 | g.60865410C>A | CA371309703 | CHD7 | n.1647C>A n.578C>A c.*1530C>A (n.*1530C>A) c.8471C>A (p.Thr2824Asn) c.2324C>A (p.Thr775Asn) n.517C>A c.8561C>A (p.Thr2854Asn) c.8558C>A (p.Thr2853Asn) c.8339C>A (p.Thr2780Asn) c.6548C>A (p.Thr2183Asn) c.6098C>A (p.Thr2033Asn) c.5306C>A (p.Thr1769Asn) c.8468C>A (p.Thr2823Asn) | |
8 | g.60865410C>G | CA371309708 | CHD7 | n.1647C>G n.578C>G c.*1530C>G (n.*1530C>G) c.8471C>G (p.Thr2824Ser) c.2324C>G (p.Thr775Ser) n.517C>G c.8561C>G (p.Thr2854Ser) c.8558C>G (p.Thr2853Ser) c.8339C>G (p.Thr2780Ser) c.6548C>G (p.Thr2183Ser) c.6098C>G (p.Thr2033Ser) c.5306C>G (p.Thr1769Ser) c.8468C>G (p.Thr2823Ser) | gnomAD v4 |
8 | g.60865410C>T | CA371309721 | CHD7 | n.1647C>T n.578C>T c.*1530C>T (n.*1530C>T) c.8471C>T (p.Thr2824Ile) c.2324C>T (p.Thr775Ile) n.517C>T c.8561C>T (p.Thr2854Ile) c.8558C>T (p.Thr2853Ile) c.8339C>T (p.Thr2780Ile) c.6548C>T (p.Thr2183Ile) c.6098C>T (p.Thr2033Ile) c.5306C>T (p.Thr1769Ile) c.8468C>T (p.Thr2823Ile) | |
8 | g.60865411T>A | CA461106086 | CHD7 | n.1648T>A n.579T>A c.*1531T>A (n.*1531T>A) c.8472T>A (p.Thr2824=) c.2325T>A (p.Thr775=) n.518T>A c.8562T>A (p.Thr2854=) c.8559T>A (p.Thr2853=) c.8340T>A (p.Thr2780=) c.6549T>A (p.Thr2183=) c.6099T>A (p.Thr2033=) c.5307T>A (p.Thr1769=) c.8469T>A (p.Thr2823=) | |
8 | g.60865411T>C | CA461106087 | CHD7 | n.1648T>C n.579T>C c.*1531T>C (n.*1531T>C) c.8472T>C (p.Thr2824=) c.2325T>C (p.Thr775=) n.518T>C c.8562T>C (p.Thr2854=) c.8559T>C (p.Thr2853=) c.8340T>C (p.Thr2780=) c.6549T>C (p.Thr2183=) c.6099T>C (p.Thr2033=) c.5307T>C (p.Thr1769=) c.8469T>C (p.Thr2823=) | |
8 | g.60865411T>G | CA461106088 | CHD7 | n.1648T>G n.579T>G c.*1531T>G (n.*1531T>G) c.8472T>G (p.Thr2824=) c.2325T>G (p.Thr775=) n.518T>G c.8562T>G (p.Thr2854=) c.8559T>G (p.Thr2853=) c.8340T>G (p.Thr2780=) c.6549T>G (p.Thr2183=) c.6099T>G (p.Thr2033=) c.5307T>G (p.Thr1769=) c.8469T>G (p.Thr2823=) | |
8 | g.60865412G>A | CA371309732 | CHD7 | n.1649G>A n.580G>A c.*1532G>A (n.*1532G>A) c.8473G>A (p.Gly2825Arg) c.2326G>A (p.Gly776Arg) n.519G>A c.8563G>A (p.Gly2855Arg) c.8560G>A (p.Gly2854Arg) c.8341G>A (p.Gly2781Arg) c.6550G>A (p.Gly2184Arg) c.6100G>A (p.Gly2034Arg) c.5308G>A (p.Gly1770Arg) c.8470G>A (p.Gly2824Arg) | |
8 | g.60865412G>C | CA371309738 | CHD7 | n.1649G>C n.580G>C c.*1532G>C (n.*1532G>C) c.8473G>C (p.Gly2825Arg) c.2326G>C (p.Gly776Arg) n.519G>C c.8563G>C (p.Gly2855Arg) c.8560G>C (p.Gly2854Arg) c.8341G>C (p.Gly2781Arg) c.6550G>C (p.Gly2184Arg) c.6100G>C (p.Gly2034Arg) c.5308G>C (p.Gly1770Arg) c.8470G>C (p.Gly2824Arg) | |
8 | g.60865412G>T | CA371309742 | CHD7 | n.1649G>T n.580G>T c.*1532G>T (n.*1532G>T) c.8473G>T (p.Gly2825Ter) c.2326G>T (p.Gly776Ter) n.519G>T c.8563G>T (p.Gly2855Ter) c.8560G>T (p.Gly2854Ter) c.8341G>T (p.Gly2781Ter) c.6550G>T (p.Gly2184Ter) c.6100G>T (p.Gly2034Ter) c.5308G>T (p.Gly1770Ter) c.8470G>T (p.Gly2824Ter) | |
8 | g.60865413G>A | CA371309753 | CHD7 | n.1650G>A n.581G>A c.*1533G>A (n.*1533G>A) c.8474G>A (p.Gly2825Glu) c.2327G>A (p.Gly776Glu) n.520G>A c.8564G>A (p.Gly2855Glu) c.8561G>A (p.Gly2854Glu) c.8342G>A (p.Gly2781Glu) c.6551G>A (p.Gly2184Glu) c.6101G>A (p.Gly2034Glu) c.5309G>A (p.Gly1770Glu) c.8471G>A (p.Gly2824Glu) | |
8 | g.60865413G>C | CA371309757 | CHD7 | n.1650G>C n.581G>C c.*1533G>C (n.*1533G>C) c.8474G>C (p.Gly2825Ala) c.2327G>C (p.Gly776Ala) n.520G>C c.8564G>C (p.Gly2855Ala) c.8561G>C (p.Gly2854Ala) c.8342G>C (p.Gly2781Ala) c.6551G>C (p.Gly2184Ala) c.6101G>C (p.Gly2034Ala) c.5309G>C (p.Gly1770Ala) c.8471G>C (p.Gly2824Ala) | |
8 | g.60865413G= | CA1788130322 | CHD7 | n.1650G= n.581G= c.*1533G= (n.*1533G=) c.8474G= (p.Gly2825=) c.2327G= (p.Gly776=) n.520G= c.8564G= (p.Gly2855=) c.8561G= (p.Gly2854=) c.8342G= (p.Gly2781=) c.6551G= (p.Gly2184=) c.6101G= (p.Gly2034=) c.5309G= (p.Gly1770=) c.8471G= (p.Gly2824=) | |
8 | g.60865413G>T | CA4761020 | CHD7 | n.1650G>T n.581G>T c.*1533G>T (n.*1533G>T) c.8474G>T (p.Gly2825Val) c.2327G>T (p.Gly776Val) n.520G>T c.8564G>T (p.Gly2855Val) c.8561G>T (p.Gly2854Val) c.8342G>T (p.Gly2781Val) c.6551G>T (p.Gly2184Val) c.6101G>T (p.Gly2034Val) c.5309G>T (p.Gly1770Val) c.8471G>T (p.Gly2824Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865414A>C | CA461106099 | CHD7 | n.1651A>C n.582A>C c.*1534A>C (n.*1534A>C) c.8475A>C (p.Gly2825=) c.2328A>C (p.Gly776=) n.521A>C c.8565A>C (p.Gly2855=) c.8562A>C (p.Gly2854=) c.8343A>C (p.Gly2781=) c.6552A>C (p.Gly2184=) c.6102A>C (p.Gly2034=) c.5310A>C (p.Gly1770=) c.8472A>C (p.Gly2824=) | gnomAD v4 |
8 | g.60865414A>G | CA461106098 | CHD7 | n.1651A>G n.582A>G c.*1534A>G (n.*1534A>G) c.8475A>G (p.Gly2825=) c.2328A>G (p.Gly776=) n.521A>G c.8565A>G (p.Gly2855=) c.8562A>G (p.Gly2854=) c.8343A>G (p.Gly2781=) c.6552A>G (p.Gly2184=) c.6102A>G (p.Gly2034=) c.5310A>G (p.Gly1770=) c.8472A>G (p.Gly2824=) | |
8 | g.60865414A>T | CA461106097 | CHD7 | n.1651A>T n.582A>T c.*1534A>T (n.*1534A>T) c.8475A>T (p.Gly2825=) c.2328A>T (p.Gly776=) n.521A>T c.8565A>T (p.Gly2855=) c.8562A>T (p.Gly2854=) c.8343A>T (p.Gly2781=) c.6552A>T (p.Gly2184=) c.6102A>T (p.Gly2034=) c.5310A>T (p.Gly1770=) c.8472A>T (p.Gly2824=) | gnomAD v3 gnomAD v4 |
8 | g.60865415A>C | CA371309761 | CHD7 | n.1652A>C n.583A>C c.*1535A>C (n.*1535A>C) c.8476A>C (p.Asn2826His) c.2329A>C (p.Asn777His) n.522A>C c.8566A>C (p.Asn2856His) c.8563A>C (p.Asn2855His) c.8344A>C (p.Asn2782His) c.6553A>C (p.Asn2185His) c.6103A>C (p.Asn2035His) c.5311A>C (p.Asn1771His) c.8473A>C (p.Asn2825His) | |
8 | g.60865415A>G | CA371309765 | CHD7 | n.1652A>G n.583A>G c.*1535A>G (n.*1535A>G) c.8476A>G (p.Asn2826Asp) c.2329A>G (p.Asn777Asp) n.522A>G c.8566A>G (p.Asn2856Asp) c.8563A>G (p.Asn2855Asp) c.8344A>G (p.Asn2782Asp) c.6553A>G (p.Asn2185Asp) c.6103A>G (p.Asn2035Asp) c.5311A>G (p.Asn1771Asp) c.8473A>G (p.Asn2825Asp) | |
8 | g.60865415A>T | CA371309768 | CHD7 | n.1652A>T n.583A>T c.*1535A>T (n.*1535A>T) c.8476A>T (p.Asn2826Tyr) c.2329A>T (p.Asn777Tyr) n.522A>T c.8566A>T (p.Asn2856Tyr) c.8563A>T (p.Asn2855Tyr) c.8344A>T (p.Asn2782Tyr) c.6553A>T (p.Asn2185Tyr) c.6103A>T (p.Asn2035Tyr) c.5311A>T (p.Asn1771Tyr) c.8473A>T (p.Asn2825Tyr) | |
8 | g.60865416A= | CA1788130335 | CHD7 | n.1653A= n.584A= c.*1536A= (n.*1536A=) c.8477A= (p.Asn2826=) c.2330A= (p.Asn777=) n.523A= c.8567A= (p.Asn2856=) c.8564A= (p.Asn2855=) c.8345A= (p.Asn2782=) c.6554A= (p.Asn2185=) c.6104A= (p.Asn2035=) c.5312A= (p.Asn1771=) c.8474A= (p.Asn2825=) | |
8 | g.60865416A>C | CA371309772 | CHD7 | n.1653A>C n.584A>C c.*1536A>C (n.*1536A>C) c.8477A>C (p.Asn2826Thr) c.2330A>C (p.Asn777Thr) n.523A>C c.8567A>C (p.Asn2856Thr) c.8564A>C (p.Asn2855Thr) c.8345A>C (p.Asn2782Thr) c.6554A>C (p.Asn2185Thr) c.6104A>C (p.Asn2035Thr) c.5312A>C (p.Asn1771Thr) c.8474A>C (p.Asn2825Thr) | |
8 | g.60865416A>G | CA4761021 | CHD7 | n.1653A>G n.584A>G c.*1536A>G (n.*1536A>G) c.8477A>G (p.Asn2826Ser) c.2330A>G (p.Asn777Ser) n.523A>G c.8567A>G (p.Asn2856Ser) c.8564A>G (p.Asn2855Ser) c.8345A>G (p.Asn2782Ser) c.6554A>G (p.Asn2185Ser) c.6104A>G (p.Asn2035Ser) c.5312A>G (p.Asn1771Ser) c.8474A>G (p.Asn2825Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865416A>T | CA371309780 | CHD7 | n.1653A>T n.584A>T c.*1536A>T (n.*1536A>T) c.8477A>T (p.Asn2826Ile) c.2330A>T (p.Asn777Ile) n.523A>T c.8567A>T (p.Asn2856Ile) c.8564A>T (p.Asn2855Ile) c.8345A>T (p.Asn2782Ile) c.6554A>T (p.Asn2185Ile) c.6104A>T (p.Asn2035Ile) c.5312A>T (p.Asn1771Ile) c.8474A>T (p.Asn2825Ile) | |
8 | g.60865417C>A | CA371309788 | CHD7 | n.1654C>A n.585C>A c.*1537C>A (n.*1537C>A) c.8478C>A (p.Asn2826Lys) c.2331C>A (p.Asn777Lys) n.524C>A c.8568C>A (p.Asn2856Lys) c.8565C>A (p.Asn2855Lys) c.8346C>A (p.Asn2782Lys) c.6555C>A (p.Asn2185Lys) c.6105C>A (p.Asn2035Lys) c.5313C>A (p.Asn1771Lys) c.8475C>A (p.Asn2825Lys) | |
8 | g.60865417C= | CA1788130341 | CHD7 | n.1654C= n.585C= c.*1537C= (n.*1537C=) c.8478C= (p.Asn2826=) c.2331C= (p.Asn777=) n.524C= c.8568C= (p.Asn2856=) c.8565C= (p.Asn2855=) c.8346C= (p.Asn2782=) c.6555C= (p.Asn2185=) c.6105C= (p.Asn2035=) c.5313C= (p.Asn1771=) c.8475C= (p.Asn2825=) | |
8 | g.60865417C>G | CA371309783 | CHD7 | n.1654C>G n.585C>G c.*1537C>G (n.*1537C>G) c.8478C>G (p.Asn2826Lys) c.2331C>G (p.Asn777Lys) n.524C>G c.8568C>G (p.Asn2856Lys) c.8565C>G (p.Asn2855Lys) c.8346C>G (p.Asn2782Lys) c.6555C>G (p.Asn2185Lys) c.6105C>G (p.Asn2035Lys) c.5313C>G (p.Asn1771Lys) c.8475C>G (p.Asn2825Lys) | |
8 | g.60865417C>T | CA4761022 | CHD7 | n.1654C>T n.585C>T c.*1537C>T (n.*1537C>T) c.8478C>T (p.Asn2826=) c.2331C>T (p.Asn777=) n.524C>T c.8568C>T (p.Asn2856=) c.8565C>T (p.Asn2855=) c.8346C>T (p.Asn2782=) c.6555C>T (p.Asn2185=) c.6105C>T (p.Asn2035=) c.5313C>T (p.Asn1771=) c.8475C>T (p.Asn2825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865418A= | CA1788130351 | CHD7 | n.1655A= n.586A= c.*1538A= (n.*1538A=) c.8479A= (p.Thr2827=) c.2332A= (p.Thr778=) n.525A= c.8569A= (p.Thr2857=) c.8566A= (p.Thr2856=) c.8347A= (p.Thr2783=) c.6556A= (p.Thr2186=) c.6106A= (p.Thr2036=) c.5314A= (p.Thr1772=) c.8476A= (p.Thr2826=) | |
8 | g.60865418A>C | CA371309791 | CHD7 | n.1655A>C n.586A>C c.*1538A>C (n.*1538A>C) c.8479A>C (p.Thr2827Pro) c.2332A>C (p.Thr778Pro) n.525A>C c.8569A>C (p.Thr2857Pro) c.8566A>C (p.Thr2856Pro) c.8347A>C (p.Thr2783Pro) c.6556A>C (p.Thr2186Pro) c.6106A>C (p.Thr2036Pro) c.5314A>C (p.Thr1772Pro) c.8476A>C (p.Thr2826Pro) | ClinVar dbSNP |
8 | g.60865418A>G | CA371309792 | CHD7 | n.1655A>G n.586A>G c.*1538A>G (n.*1538A>G) c.8479A>G (p.Thr2827Ala) c.2332A>G (p.Thr778Ala) n.525A>G c.8569A>G (p.Thr2857Ala) c.8566A>G (p.Thr2856Ala) c.8347A>G (p.Thr2783Ala) c.6556A>G (p.Thr2186Ala) c.6106A>G (p.Thr2036Ala) c.5314A>G (p.Thr1772Ala) c.8476A>G (p.Thr2826Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865418A>T | CA371309793 | CHD7 | n.1655A>T n.586A>T c.*1538A>T (n.*1538A>T) c.8479A>T (p.Thr2827Ser) c.2332A>T (p.Thr778Ser) n.525A>T c.8569A>T (p.Thr2857Ser) c.8566A>T (p.Thr2856Ser) c.8347A>T (p.Thr2783Ser) c.6556A>T (p.Thr2186Ser) c.6106A>T (p.Thr2036Ser) c.5314A>T (p.Thr1772Ser) c.8476A>T (p.Thr2826Ser) | |
8 | g.60865419C>A | CA371309794 | CHD7 | n.1656C>A n.587C>A c.*1539C>A (n.*1539C>A) c.8480C>A (p.Thr2827Asn) c.2333C>A (p.Thr778Asn) n.526C>A c.8570C>A (p.Thr2857Asn) c.8567C>A (p.Thr2856Asn) c.8348C>A (p.Thr2783Asn) c.6557C>A (p.Thr2186Asn) c.6107C>A (p.Thr2036Asn) c.5315C>A (p.Thr1772Asn) c.8477C>A (p.Thr2826Asn) | gnomAD v4 |
8 | g.60865419C>G | CA371309796 | CHD7 | n.1656C>G n.587C>G c.*1539C>G (n.*1539C>G) c.8480C>G (p.Thr2827Ser) c.2333C>G (p.Thr778Ser) n.526C>G c.8570C>G (p.Thr2857Ser) c.8567C>G (p.Thr2856Ser) c.8348C>G (p.Thr2783Ser) c.6557C>G (p.Thr2186Ser) c.6107C>G (p.Thr2036Ser) c.5315C>G (p.Thr1772Ser) c.8477C>G (p.Thr2826Ser) | |
8 | g.60865419C>T | CA371309798 | CHD7 | n.1656C>T n.587C>T c.*1539C>T (n.*1539C>T) c.8480C>T (p.Thr2827Ile) c.2333C>T (p.Thr778Ile) n.526C>T c.8570C>T (p.Thr2857Ile) c.8567C>T (p.Thr2856Ile) c.8348C>T (p.Thr2783Ile) c.6557C>T (p.Thr2186Ile) c.6107C>T (p.Thr2036Ile) c.5315C>T (p.Thr1772Ile) c.8477C>T (p.Thr2826Ile) | |
8 | g.60865420C>A | CA461106107 | CHD7 | n.1657C>A n.588C>A c.*1540C>A (n.*1540C>A) c.8481C>A (p.Thr2827=) c.2334C>A (p.Thr778=) n.527C>A c.8571C>A (p.Thr2857=) c.8568C>A (p.Thr2856=) c.8349C>A (p.Thr2783=) c.6558C>A (p.Thr2186=) c.6108C>A (p.Thr2036=) c.5316C>A (p.Thr1772=) c.8478C>A (p.Thr2826=) | |
8 | g.60865420C= | CA1788130359 | CHD7 | n.1657C= n.588C= c.*1540C= (n.*1540C=) c.8481C= (p.Thr2827=) c.2334C= (p.Thr778=) n.527C= c.8571C= (p.Thr2857=) c.8568C= (p.Thr2856=) c.8349C= (p.Thr2783=) c.6558C= (p.Thr2186=) c.6108C= (p.Thr2036=) c.5316C= (p.Thr1772=) c.8478C= (p.Thr2826=) | |
8 | g.60865420C>G | CA461106109 | CHD7 | n.1657C>G n.588C>G c.*1540C>G (n.*1540C>G) c.8481C>G (p.Thr2827=) c.2334C>G (p.Thr778=) n.527C>G c.8571C>G (p.Thr2857=) c.8568C>G (p.Thr2856=) c.8349C>G (p.Thr2783=) c.6558C>G (p.Thr2186=) c.6108C>G (p.Thr2036=) c.5316C>G (p.Thr1772=) c.8478C>G (p.Thr2826=) | |
8 | g.60865420C>T | CA461106108 | CHD7 | n.1657C>T n.588C>T c.*1540C>T (n.*1540C>T) c.8481C>T (p.Thr2827=) c.2334C>T (p.Thr778=) n.527C>T c.8571C>T (p.Thr2857=) c.8568C>T (p.Thr2856=) c.8349C>T (p.Thr2783=) c.6558C>T (p.Thr2186=) c.6108C>T (p.Thr2036=) c.5316C>T (p.Thr1772=) c.8478C>T (p.Thr2826=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865421A>C | CA371309801 | CHD7 | n.1658A>C n.589A>C c.*1541A>C (n.*1541A>C) c.8482A>C (p.Thr2828Pro) c.2335A>C (p.Thr779Pro) n.528A>C c.8572A>C (p.Thr2858Pro) c.8569A>C (p.Thr2857Pro) c.8350A>C (p.Thr2784Pro) c.6559A>C (p.Thr2187Pro) c.6109A>C (p.Thr2037Pro) c.5317A>C (p.Thr1773Pro) c.8479A>C (p.Thr2827Pro) | |
8 | g.60865421A>G | CA371309807 | CHD7 | n.1658A>G n.589A>G c.*1541A>G (n.*1541A>G) c.8482A>G (p.Thr2828Ala) c.2335A>G (p.Thr779Ala) n.528A>G c.8572A>G (p.Thr2858Ala) c.8569A>G (p.Thr2857Ala) c.8350A>G (p.Thr2784Ala) c.6559A>G (p.Thr2187Ala) c.6109A>G (p.Thr2037Ala) c.5317A>G (p.Thr1773Ala) c.8479A>G (p.Thr2827Ala) | ClinVar |
8 | g.60865421A>T | CA371309804 | CHD7 | n.1658A>T n.589A>T c.*1541A>T (n.*1541A>T) c.8482A>T (p.Thr2828Ser) c.2335A>T (p.Thr779Ser) n.528A>T c.8572A>T (p.Thr2858Ser) c.8569A>T (p.Thr2857Ser) c.8350A>T (p.Thr2784Ser) c.6559A>T (p.Thr2187Ser) c.6109A>T (p.Thr2037Ser) c.5317A>T (p.Thr1773Ser) c.8479A>T (p.Thr2827Ser) | |
8 | g.60865422C>A | CA371309812 | CHD7 | n.1659C>A n.590C>A c.*1542C>A (n.*1542C>A) c.8483C>A (p.Thr2828Asn) c.2336C>A (p.Thr779Asn) n.529C>A c.8573C>A (p.Thr2858Asn) c.8570C>A (p.Thr2857Asn) c.8351C>A (p.Thr2784Asn) c.6560C>A (p.Thr2187Asn) c.6110C>A (p.Thr2037Asn) c.5318C>A (p.Thr1773Asn) c.8480C>A (p.Thr2827Asn) | |
8 | g.60865422C>G | CA371309814 | CHD7 | n.1659C>G n.590C>G c.*1542C>G (n.*1542C>G) c.8483C>G (p.Thr2828Ser) c.2336C>G (p.Thr779Ser) n.529C>G c.8573C>G (p.Thr2858Ser) c.8570C>G (p.Thr2857Ser) c.8351C>G (p.Thr2784Ser) c.6560C>G (p.Thr2187Ser) c.6110C>G (p.Thr2037Ser) c.5318C>G (p.Thr1773Ser) c.8480C>G (p.Thr2827Ser) | |
8 | g.60865422C>T | CA371309815 | CHD7 | n.1659C>T n.590C>T c.*1542C>T (n.*1542C>T) c.8483C>T (p.Thr2828Ile) c.2336C>T (p.Thr779Ile) n.529C>T c.8573C>T (p.Thr2858Ile) c.8570C>T (p.Thr2857Ile) c.8351C>T (p.Thr2784Ile) c.6560C>T (p.Thr2187Ile) c.6110C>T (p.Thr2037Ile) c.5318C>T (p.Thr1773Ile) c.8480C>T (p.Thr2827Ile) | |
8 | g.60865423T>A | CA461106110 | CHD7 | n.1660T>A n.591T>A c.*1543T>A (n.*1543T>A) c.8484T>A (p.Thr2828=) c.2337T>A (p.Thr779=) n.530T>A c.8574T>A (p.Thr2858=) c.8571T>A (p.Thr2857=) c.8352T>A (p.Thr2784=) c.6561T>A (p.Thr2187=) c.6111T>A (p.Thr2037=) c.5319T>A (p.Thr1773=) c.8481T>A (p.Thr2827=) | |
8 | g.60865423T>C | CA461106111 | CHD7 | n.1660T>C n.591T>C c.*1543T>C (n.*1543T>C) c.8484T>C (p.Thr2828=) c.2337T>C (p.Thr779=) n.530T>C c.8574T>C (p.Thr2858=) c.8571T>C (p.Thr2857=) c.8352T>C (p.Thr2784=) c.6561T>C (p.Thr2187=) c.6111T>C (p.Thr2037=) c.5319T>C (p.Thr1773=) c.8481T>C (p.Thr2827=) | |
8 | g.60865423T>G | CA461106112 | CHD7 | n.1660T>G n.591T>G c.*1543T>G (n.*1543T>G) c.8484T>G (p.Thr2828=) c.2337T>G (p.Thr779=) n.530T>G c.8574T>G (p.Thr2858=) c.8571T>G (p.Thr2857=) c.8352T>G (p.Thr2784=) c.6561T>G (p.Thr2187=) c.6111T>G (p.Thr2037=) c.5319T>G (p.Thr1773=) c.8481T>G (p.Thr2827=) | |
8 | g.60865424A>C | CA371309816 | CHD7 | n.1661A>C n.592A>C c.*1544A>C (n.*1544A>C) c.8485A>C (p.Thr2829Pro) c.2338A>C (p.Thr780Pro) n.531A>C c.8575A>C (p.Thr2859Pro) c.8572A>C (p.Thr2858Pro) c.8353A>C (p.Thr2785Pro) c.6562A>C (p.Thr2188Pro) c.6112A>C (p.Thr2038Pro) c.5320A>C (p.Thr1774Pro) c.8482A>C (p.Thr2828Pro) | |
8 | g.60865424A>G | CA371309819 | CHD7 | n.1661A>G n.592A>G c.*1544A>G (n.*1544A>G) c.8485A>G (p.Thr2829Ala) c.2338A>G (p.Thr780Ala) n.531A>G c.8575A>G (p.Thr2859Ala) c.8572A>G (p.Thr2858Ala) c.8353A>G (p.Thr2785Ala) c.6562A>G (p.Thr2188Ala) c.6112A>G (p.Thr2038Ala) c.5320A>G (p.Thr1774Ala) c.8482A>G (p.Thr2828Ala) | |
8 | g.60865424A>T | CA371309820 | CHD7 | n.1661A>T n.592A>T c.*1544A>T (n.*1544A>T) c.8485A>T (p.Thr2829Ser) c.2338A>T (p.Thr780Ser) n.531A>T c.8575A>T (p.Thr2859Ser) c.8572A>T (p.Thr2858Ser) c.8353A>T (p.Thr2785Ser) c.6562A>T (p.Thr2188Ser) c.6112A>T (p.Thr2038Ser) c.5320A>T (p.Thr1774Ser) c.8482A>T (p.Thr2828Ser) | gnomAD v4 |
8 | g.60865425C>A | CA371309821 | CHD7 | n.1662C>A n.593C>A c.*1545C>A (n.*1545C>A) c.8486C>A (p.Thr2829Asn) c.2339C>A (p.Thr780Asn) n.532C>A c.8576C>A (p.Thr2859Asn) c.8573C>A (p.Thr2858Asn) c.8354C>A (p.Thr2785Asn) c.6563C>A (p.Thr2188Asn) c.6113C>A (p.Thr2038Asn) c.5321C>A (p.Thr1774Asn) c.8483C>A (p.Thr2828Asn) | |
8 | g.60865425C>G | CA371309822 | CHD7 | n.1662C>G n.593C>G c.*1545C>G (n.*1545C>G) c.8486C>G (p.Thr2829Ser) c.2339C>G (p.Thr780Ser) n.532C>G c.8576C>G (p.Thr2859Ser) c.8573C>G (p.Thr2858Ser) c.8354C>G (p.Thr2785Ser) c.6563C>G (p.Thr2188Ser) c.6113C>G (p.Thr2038Ser) c.5321C>G (p.Thr1774Ser) c.8483C>G (p.Thr2828Ser) | |
8 | g.60865425C>T | CA371309825 | CHD7 | n.1662C>T n.593C>T c.*1545C>T (n.*1545C>T) c.8486C>T (p.Thr2829Ile) c.2339C>T (p.Thr780Ile) n.532C>T c.8576C>T (p.Thr2859Ile) c.8573C>T (p.Thr2858Ile) c.8354C>T (p.Thr2785Ile) c.6563C>T (p.Thr2188Ile) c.6113C>T (p.Thr2038Ile) c.5321C>T (p.Thr1774Ile) c.8483C>T (p.Thr2828Ile) | |
8 | g.60865426T>A | CA461106116 | CHD7 | n.1663T>A n.594T>A c.*1546T>A (n.*1546T>A) c.8487T>A (p.Thr2829=) c.2340T>A (p.Thr780=) n.533T>A c.8577T>A (p.Thr2859=) c.8574T>A (p.Thr2858=) c.8355T>A (p.Thr2785=) c.6564T>A (p.Thr2188=) c.6114T>A (p.Thr2038=) c.5322T>A (p.Thr1774=) c.8484T>A (p.Thr2828=) | |
8 | g.60865426T>C | CA461106117 | CHD7 | n.1663T>C n.594T>C c.*1546T>C (n.*1546T>C) c.8487T>C (p.Thr2829=) c.2340T>C (p.Thr780=) n.533T>C c.8577T>C (p.Thr2859=) c.8574T>C (p.Thr2858=) c.8355T>C (p.Thr2785=) c.6564T>C (p.Thr2188=) c.6114T>C (p.Thr2038=) c.5322T>C (p.Thr1774=) c.8484T>C (p.Thr2828=) | |
8 | g.60865426T>G | CA461106118 | CHD7 | n.1663T>G n.594T>G c.*1546T>G (n.*1546T>G) c.8487T>G (p.Thr2829=) c.2340T>G (p.Thr780=) n.533T>G c.8577T>G (p.Thr2859=) c.8574T>G (p.Thr2858=) c.8355T>G (p.Thr2785=) c.6564T>G (p.Thr2188=) c.6114T>G (p.Thr2038=) c.5322T>G (p.Thr1774=) c.8484T>G (p.Thr2828=) | |
8 | g.60865427G>A | CA4761023 | CHD7 | n.1664G>A n.595G>A c.*1547G>A (n.*1547G>A) c.8488G>A (p.Ala2830Thr) c.2341G>A (p.Ala781Thr) n.534G>A c.8578G>A (p.Ala2860Thr) c.8575G>A (p.Ala2859Thr) c.8356G>A (p.Ala2786Thr) c.6565G>A (p.Ala2189Thr) c.6115G>A (p.Ala2039Thr) c.5323G>A (p.Ala1775Thr) c.8485G>A (p.Ala2829Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865427G>C | CA371309831 | CHD7 | n.1664G>C n.595G>C c.*1547G>C (n.*1547G>C) c.8488G>C (p.Ala2830Pro) c.2341G>C (p.Ala781Pro) n.534G>C c.8578G>C (p.Ala2860Pro) c.8575G>C (p.Ala2859Pro) c.8356G>C (p.Ala2786Pro) c.6565G>C (p.Ala2189Pro) c.6115G>C (p.Ala2039Pro) c.5323G>C (p.Ala1775Pro) c.8485G>C (p.Ala2829Pro) | |
8 | g.60865427G= | CA1788130371 | CHD7 | n.1664G= n.595G= c.*1547G= (n.*1547G=) c.8488G= (p.Ala2830=) c.2341G= (p.Ala781=) n.534G= c.8578G= (p.Ala2860=) c.8575G= (p.Ala2859=) c.8356G= (p.Ala2786=) c.6565G= (p.Ala2189=) c.6115G= (p.Ala2039=) c.5323G= (p.Ala1775=) c.8485G= (p.Ala2829=) | |
8 | g.60865427G>T | CA371309835 | CHD7 | n.1664G>T n.595G>T c.*1547G>T (n.*1547G>T) c.8488G>T (p.Ala2830Ser) c.2341G>T (p.Ala781Ser) n.534G>T c.8578G>T (p.Ala2860Ser) c.8575G>T (p.Ala2859Ser) c.8356G>T (p.Ala2786Ser) c.6565G>T (p.Ala2189Ser) c.6115G>T (p.Ala2039Ser) c.5323G>T (p.Ala1775Ser) c.8485G>T (p.Ala2829Ser) | |
8 | g.60865428C>A | CA371309849 | CHD7 | n.1665C>A n.596C>A c.*1548C>A (n.*1548C>A) c.8489C>A (p.Ala2830Asp) c.2342C>A (p.Ala781Asp) n.535C>A c.8579C>A (p.Ala2860Asp) c.8576C>A (p.Ala2859Asp) c.8357C>A (p.Ala2786Asp) c.6566C>A (p.Ala2189Asp) c.6116C>A (p.Ala2039Asp) c.5324C>A (p.Ala1775Asp) c.8486C>A (p.Ala2829Asp) | |
8 | g.60865428C>G | CA371309839 | CHD7 | n.1665C>G n.596C>G c.*1548C>G (n.*1548C>G) c.8489C>G (p.Ala2830Gly) c.2342C>G (p.Ala781Gly) n.535C>G c.8579C>G (p.Ala2860Gly) c.8576C>G (p.Ala2859Gly) c.8357C>G (p.Ala2786Gly) c.6566C>G (p.Ala2189Gly) c.6116C>G (p.Ala2039Gly) c.5324C>G (p.Ala1775Gly) c.8486C>G (p.Ala2829Gly) | |
8 | g.60865428C>T | CA371309844 | CHD7 | n.1665C>T n.596C>T c.*1548C>T (n.*1548C>T) c.8489C>T (p.Ala2830Val) c.2342C>T (p.Ala781Val) n.535C>T c.8579C>T (p.Ala2860Val) c.8576C>T (p.Ala2859Val) c.8357C>T (p.Ala2786Val) c.6566C>T (p.Ala2189Val) c.6116C>T (p.Ala2039Val) c.5324C>T (p.Ala1775Val) c.8486C>T (p.Ala2829Val) | |
8 | g.60865429T>A | CA4761024 | CHD7 | n.1666T>A n.597T>A c.*1549T>A (n.*1549T>A) c.8490T>A (p.Ala2830=) c.2343T>A (p.Ala781=) n.536T>A c.8580T>A (p.Ala2860=) c.8577T>A (p.Ala2859=) c.8358T>A (p.Ala2786=) c.6567T>A (p.Ala2189=) c.6117T>A (p.Ala2039=) c.5325T>A (p.Ala1775=) c.8487T>A (p.Ala2829=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865429T>C | CA461106122 | CHD7 | n.1666T>C n.597T>C c.*1549T>C (n.*1549T>C) c.8490T>C (p.Ala2830=) c.2343T>C (p.Ala781=) n.536T>C c.8580T>C (p.Ala2860=) c.8577T>C (p.Ala2859=) c.8358T>C (p.Ala2786=) c.6567T>C (p.Ala2189=) c.6117T>C (p.Ala2039=) c.5325T>C (p.Ala1775=) c.8487T>C (p.Ala2829=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865429T>G | CA461106123 | CHD7 | n.1666T>G n.597T>G c.*1549T>G (n.*1549T>G) c.8490T>G (p.Ala2830=) c.2343T>G (p.Ala781=) n.536T>G c.8580T>G (p.Ala2860=) c.8577T>G (p.Ala2859=) c.8358T>G (p.Ala2786=) c.6567T>G (p.Ala2189=) c.6117T>G (p.Ala2039=) c.5325T>G (p.Ala1775=) c.8487T>G (p.Ala2829=) | |
8 | g.60865429T= | CA1788130381 | CHD7 | n.1666T= n.597T= c.*1549T= (n.*1549T=) c.8490T= (p.Ala2830=) c.2343T= (p.Ala781=) n.536T= c.8580T= (p.Ala2860=) c.8577T= (p.Ala2859=) c.8358T= (p.Ala2786=) c.6567T= (p.Ala2189=) c.6117T= (p.Ala2039=) c.5325T= (p.Ala1775=) c.8487T= (p.Ala2829=) | |
8 | g.60865430del | CA2695203185 | CHD7 | n.1667del n.598del c.*1550del (n.*1550del) c.8491del (p.Ser2831LeufsTer?) c.2344del (p.Ser782LeufsTer?) n.537del c.8581del (p.Ser2861LeufsTer?) c.8578del (p.Ser2860LeufsTer?) c.8359del (p.Ser2787LeufsTer?) c.6568del (p.Ser2190LeufsTer?) c.6118del (p.Ser2040LeufsTer?) c.5326del (p.Ser1776LeufsTer?) c.8488del (p.Ser2830LeufsTer?) |