| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853007A= | CA1788103236 | CHD7 | c.6282A= (p.Gly2094=) c.1717-9222A= (n.1717-9222A=) c.6372A= (p.Gly2124=) c.4359A= (p.Gly1453=) c.3909A= (p.Gly1303=) c.3117A= (p.Gly1039=) | |
| 8 | g.60853007A>C | CA461105166 | CHD7 | c.6282A>C (p.Gly2094=) c.1717-9222A>C (n.1717-9222A>C) c.6372A>C (p.Gly2124=) c.4359A>C (p.Gly1453=) c.3909A>C (p.Gly1303=) c.3117A>C (p.Gly1039=) | |
| 8 | g.60853007A>G | CA148876 | CHD7 | c.6282A>G (p.Gly2094=) c.1717-9222A>G (n.1717-9222A>G) c.6372A>G (p.Gly2124=) c.4359A>G (p.Gly1453=) c.3909A>G (p.Gly1303=) c.3117A>G (p.Gly1039=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853007A>T | CA461105167 | CHD7 | c.6282A>T (p.Gly2094=) c.1717-9222A>T (n.1717-9222A>T) c.6372A>T (p.Gly2124=) c.4359A>T (p.Gly1453=) c.3909A>T (p.Gly1303=) c.3117A>T (p.Gly1039=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60853008C>A | CA461105170 | CHD7 | c.6283C>A (p.Arg2095=) c.1717-9221C>A (n.1717-9221C>A) c.6373C>A (p.Arg2125=) c.4360C>A (p.Arg1454=) c.3910C>A (p.Arg1304=) c.3118C>A (p.Arg1040=) | |
| 8 | g.60853008C= | CA1788103244 | CHD7 | c.6283C= (p.Arg2095=) c.1717-9221C= (n.1717-9221C=) c.6373C= (p.Arg2125=) c.4360C= (p.Arg1454=) c.3910C= (p.Arg1304=) c.3118C= (p.Arg1040=) | |
| 8 | g.60853008C>G | CA371324665 | CHD7 | c.6283C>G (p.Arg2095Gly) c.1717-9221C>G (n.1717-9221C>G) c.6373C>G (p.Arg2125Gly) c.4360C>G (p.Arg1454Gly) c.3910C>G (p.Arg1304Gly) c.3118C>G (p.Arg1040Gly) | |
| 8 | g.60853008C>T | CA4760564 | CHD7 | c.6283C>T (p.Arg2095Trp) c.1717-9221C>T (n.1717-9221C>T) c.6373C>T (p.Arg2125Trp) c.4360C>T (p.Arg1454Trp) c.3910C>T (p.Arg1304Trp) c.3118C>T (p.Arg1040Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60853009G>A | CA4760565 | CHD7 | c.6284G>A (p.Arg2095Gln) c.1717-9220G>A (n.1717-9220G>A) c.6374G>A (p.Arg2125Gln) c.4361G>A (p.Arg1454Gln) c.3911G>A (p.Arg1304Gln) c.3119G>A (p.Arg1040Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853009G>C | CA371324668 | CHD7 | c.6284G>C (p.Arg2095Pro) c.1717-9220G>C (n.1717-9220G>C) c.6374G>C (p.Arg2125Pro) c.4361G>C (p.Arg1454Pro) c.3911G>C (p.Arg1304Pro) c.3119G>C (p.Arg1040Pro) | |
| 8 | g.60853009G= | CA1788103251 | CHD7 | c.6284G= (p.Arg2095=) c.1717-9220G= (n.1717-9220G=) c.6374G= (p.Arg2125=) c.4361G= (p.Arg1454=) c.3911G= (p.Arg1304=) c.3119G= (p.Arg1040=) | |
| 8 | g.60853009G>T | CA371324670 | CHD7 | c.6284G>T (p.Arg2095Leu) c.1717-9220G>T (n.1717-9220G>T) c.6374G>T (p.Arg2125Leu) c.4361G>T (p.Arg1454Leu) c.3911G>T (p.Arg1304Leu) c.3119G>T (p.Arg1040Leu) | |
| 8 | g.60853010G>A | CA461105171 | CHD7 | c.6285G>A (p.Arg2095=) c.1717-9219G>A (n.1717-9219G>A) c.6375G>A (p.Arg2125=) c.4362G>A (p.Arg1454=) c.3912G>A (p.Arg1304=) c.3120G>A (p.Arg1040=) | gnomAD v4 |
| 8 | g.60853010G>C | CA461105173 | CHD7 | c.6285G>C (p.Arg2095=) c.1717-9219G>C (n.1717-9219G>C) c.6375G>C (p.Arg2125=) c.4362G>C (p.Arg1454=) c.3912G>C (p.Arg1304=) c.3120G>C (p.Arg1040=) | |
| 8 | g.60853010G= | CA1788103258 | CHD7 | c.6285G= (p.Arg2095=) c.1717-9219G= (n.1717-9219G=) c.6375G= (p.Arg2125=) c.4362G= (p.Arg1454=) c.3912G= (p.Arg1304=) c.3120G= (p.Arg1040=) | |
| 8 | g.60853010G>T | CA461105172 | CHD7 | c.6285G>T (p.Arg2095=) c.1717-9219G>T (n.1717-9219G>T) c.6375G>T (p.Arg2125=) c.4362G>T (p.Arg1454=) c.3912G>T (p.Arg1304=) c.3120G>T (p.Arg1040=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853011C>A | CA371324671 | CHD7 | c.6286C>A (p.His2096Asn) c.1717-9218C>A (n.1717-9218C>A) c.6376C>A (p.His2126Asn) c.4363C>A (p.His1455Asn) c.3913C>A (p.His1305Asn) c.3121C>A (p.His1041Asn) | |
| 8 | g.60853011C= | CA1788103261 | CHD7 | c.6286C= (p.His2096=) c.1717-9218C= (n.1717-9218C=) c.6376C= (p.His2126=) c.4363C= (p.His1455=) c.3913C= (p.His1305=) c.3121C= (p.His1041=) | |
| 8 | g.60853011C>G | CA371324673 | CHD7 | c.6286C>G (p.His2096Asp) c.1717-9218C>G (n.1717-9218C>G) c.6376C>G (p.His2126Asp) c.4363C>G (p.His1455Asp) c.3913C>G (p.His1305Asp) c.3121C>G (p.His1041Asp) | |
| 8 | g.60853011C>T | CA4760566 | CHD7 | c.6286C>T (p.His2096Tyr) c.1717-9218C>T (n.1717-9218C>T) c.6376C>T (p.His2126Tyr) c.4363C>T (p.His1455Tyr) c.3913C>T (p.His1305Tyr) c.3121C>T (p.His1041Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60853012A= | CA1788103270 | CHD7 | c.6287A= (p.His2096=) c.1717-9217A= (n.1717-9217A=) c.6377A= (p.His2126=) c.4364A= (p.His1455=) c.3914A= (p.His1305=) c.3122A= (p.His1041=) | |
| 8 | g.60853012A>C | CA371324675 | CHD7 | c.6287A>C (p.His2096Pro) c.1717-9217A>C (n.1717-9217A>C) c.6377A>C (p.His2126Pro) c.4364A>C (p.His1455Pro) c.3914A>C (p.His1305Pro) c.3122A>C (p.His1041Pro) | |
| 8 | g.60853012A>G | CA271328 | CHD7 | c.6287A>G (p.His2096Arg) c.1717-9217A>G (n.1717-9217A>G) c.6377A>G (p.His2126Arg) c.4364A>G (p.His1455Arg) c.3914A>G (p.His1305Arg) c.3122A>G (p.His1041Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60853012A>T | CA371324674 | CHD7 | c.6287A>T (p.His2096Leu) c.1717-9217A>T (n.1717-9217A>T) c.6377A>T (p.His2126Leu) c.4364A>T (p.His1455Leu) c.3914A>T (p.His1305Leu) c.3122A>T (p.His1041Leu) | COSMIC |
| 8 | g.60853013T>A | CA371324677 | CHD7 | c.6288T>A (p.His2096Gln) c.1717-9216T>A (n.1717-9216T>A) c.6378T>A (p.His2126Gln) c.4365T>A (p.His1455Gln) c.3915T>A (p.His1305Gln) c.3123T>A (p.His1041Gln) | |
| 8 | g.60853013T>C | CA461105176 | CHD7 | c.6288T>C (p.His2096=) c.1717-9216T>C (n.1717-9216T>C) c.6378T>C (p.His2126=) c.4365T>C (p.His1455=) c.3915T>C (p.His1305=) c.3123T>C (p.His1041=) | |
| 8 | g.60853013T>G | CA371324678 | CHD7 | c.6288T>G (p.His2096Gln) c.1717-9216T>G (n.1717-9216T>G) c.6378T>G (p.His2126Gln) c.4365T>G (p.His1455Gln) c.3915T>G (p.His1305Gln) c.3123T>G (p.His1041Gln) | |
| 8 | g.60853014G>A | CA371324680 | CHD7 | c.6289G>A (p.Asp2097Asn) c.1717-9215G>A (n.1717-9215G>A) c.6379G>A (p.Asp2127Asn) c.4366G>A (p.Asp1456Asn) c.3916G>A (p.Asp1306Asn) c.3124G>A (p.Asp1042Asn) | gnomAD v4 |
| 8 | g.60853014G>C | CA371324682 | CHD7 | c.6289G>C (p.Asp2097His) c.1717-9215G>C (n.1717-9215G>C) c.6379G>C (p.Asp2127His) c.4366G>C (p.Asp1456His) c.3916G>C (p.Asp1306His) c.3124G>C (p.Asp1042His) | |
| 8 | g.60853014G>T | CA371324685 | CHD7 | c.6289G>T (p.Asp2097Tyr) c.1717-9215G>T (n.1717-9215G>T) c.6379G>T (p.Asp2127Tyr) c.4366G>T (p.Asp1456Tyr) c.3916G>T (p.Asp1306Tyr) c.3124G>T (p.Asp1042Tyr) | |
| 8 | g.60853015A>C | CA371324687 | CHD7 | c.6290A>C (p.Asp2097Ala) c.1717-9214A>C (n.1717-9214A>C) c.6380A>C (p.Asp2127Ala) c.4367A>C (p.Asp1456Ala) c.3917A>C (p.Asp1306Ala) c.3125A>C (p.Asp1042Ala) | |
| 8 | g.60853015A>G | CA371324688 | CHD7 | c.6290A>G (p.Asp2097Gly) c.1717-9214A>G (n.1717-9214A>G) c.6380A>G (p.Asp2127Gly) c.4367A>G (p.Asp1456Gly) c.3917A>G (p.Asp1306Gly) c.3125A>G (p.Asp1042Gly) | |
| 8 | g.60853015A>T | CA371324690 | CHD7 | c.6290A>T (p.Asp2097Val) c.1717-9214A>T (n.1717-9214A>T) c.6380A>T (p.Asp2127Val) c.4367A>T (p.Asp1456Val) c.3917A>T (p.Asp1306Val) c.3125A>T (p.Asp1042Val) | |
| 8 | g.60853015_60853016delinsAC | CA1788103278 | CHD7 | c.6290_6291delinsAC (p.Asp2097=) c.1717-9214_1717-9213delinsAC (n.1717-9214_1717-9213delinsAC) c.6380_6381delinsAC (p.Asp2127=) c.4367_4368delinsAC (p.Asp1456=) c.3917_3918delinsAC (p.Asp1306=) c.3125_3126delinsAC (p.Asp1042=) | |
| 8 | g.60853016C>A | CA371324692 | CHD7 | c.6291C>A (p.Asp2097Glu) c.1717-9213C>A (n.1717-9213C>A) c.6381C>A (p.Asp2127Glu) c.4368C>A (p.Asp1456Glu) c.3918C>A (p.Asp1306Glu) c.3126C>A (p.Asp1042Glu) | |
| 8 | g.60853016C= | CA1788103318 | CHD7 | c.6291C= (p.Asp2097=) c.1717-9213C= (n.1717-9213C=) c.6381C= (p.Asp2127=) c.4368C= (p.Asp1456=) c.3918C= (p.Asp1306=) c.3126C= (p.Asp1042=) | |
| 8 | g.60853016C>G | CA371324693 | CHD7 | c.6291C>G (p.Asp2097Glu) c.1717-9213C>G (n.1717-9213C>G) c.6381C>G (p.Asp2127Glu) c.4368C>G (p.Asp1456Glu) c.3918C>G (p.Asp1306Glu) c.3126C>G (p.Asp1042Glu) | |
| 8 | g.60853016C>T | CA461105178 | CHD7 | c.6291C>T (p.Asp2097=) c.1717-9213C>T (n.1717-9213C>T) c.6381C>T (p.Asp2127=) c.4368C>T (p.Asp1456=) c.3918C>T (p.Asp1306=) c.3126C>T (p.Asp1042=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853017del | CA16609837 | CHD7 | c.6292del (p.Arg2098GlufsTer?) c.1717-9212del (n.1717-9212del) c.6382del (p.Arg2128GlufsTer?) c.4369del (p.Arg1457GlufsTer?) c.3919del (p.Arg1307GlufsTer?) c.3127del (p.Arg1043GlufsTer?) | ClinVar dbSNP |
| 8 | g.60853017C>A | CA461105179 | CHD7 | c.6292C>A (p.Arg2098=) c.1717-9212C>A (n.1717-9212C>A) c.6382C>A (p.Arg2128=) c.4369C>A (p.Arg1457=) c.3919C>A (p.Arg1307=) c.3127C>A (p.Arg1043=) | |
| 8 | g.60853017C= | CA1788103334 | CHD7 | c.6292C= (p.Arg2098=) c.1717-9212C= (n.1717-9212C=) c.6382C= (p.Arg2128=) c.4369C= (p.Arg1457=) c.3919C= (p.Arg1307=) c.3127C= (p.Arg1043=) | |
| 8 | g.60853017C>G | CA371324695 | CHD7 | c.6292C>G (p.Arg2098Gly) c.1717-9212C>G (n.1717-9212C>G) c.6382C>G (p.Arg2128Gly) c.4369C>G (p.Arg1457Gly) c.3919C>G (p.Arg1307Gly) c.3127C>G (p.Arg1043Gly) | |
| 8 | g.60853017C>T | CA10576249 | CHD7 | c.6292C>T (p.Arg2098Ter) c.1717-9212C>T (n.1717-9212C>T) c.6382C>T (p.Arg2128Ter) c.4369C>T (p.Arg1457Ter) c.3919C>T (p.Arg1307Ter) c.3127C>T (p.Arg1043Ter) | ClinVar dbSNP |
| 8 | g.60853018G>A | CA4760567 | CHD7 | c.6293G>A (p.Arg2098Gln) c.1717-9211G>A (n.1717-9211G>A) c.6383G>A (p.Arg2128Gln) c.4370G>A (p.Arg1457Gln) c.3920G>A (p.Arg1307Gln) c.3128G>A (p.Arg1043Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60853018G>C | CA371324699 | CHD7 | c.6293G>C (p.Arg2098Pro) c.1717-9211G>C (n.1717-9211G>C) c.6383G>C (p.Arg2128Pro) c.4370G>C (p.Arg1457Pro) c.3920G>C (p.Arg1307Pro) c.3128G>C (p.Arg1043Pro) | |
| 8 | g.60853018G= | CA1788103343 | CHD7 | c.6293G= (p.Arg2098=) c.1717-9211G= (n.1717-9211G=) c.6383G= (p.Arg2128=) c.4370G= (p.Arg1457=) c.3920G= (p.Arg1307=) c.3128G= (p.Arg1043=) | |
| 8 | g.60853018G>T | CA371324698 | CHD7 | c.6293G>T (p.Arg2098Leu) c.1717-9211G>T (n.1717-9211G>T) c.6383G>T (p.Arg2128Leu) c.4370G>T (p.Arg1457Leu) c.3920G>T (p.Arg1307Leu) c.3128G>T (p.Arg1043Leu) | |
| 8 | g.60853019A>C | CA461105182 | CHD7 | c.6294A>C (p.Arg2098=) c.1717-9210A>C (n.1717-9210A>C) c.6384A>C (p.Arg2128=) c.4371A>C (p.Arg1457=) c.3921A>C (p.Arg1307=) c.3129A>C (p.Arg1043=) | gnomAD v4 |
| 8 | g.60853019A>G | CA461105183 | CHD7 | c.6294A>G (p.Arg2098=) c.1717-9210A>G (n.1717-9210A>G) c.6384A>G (p.Arg2128=) c.4371A>G (p.Arg1457=) c.3921A>G (p.Arg1307=) c.3129A>G (p.Arg1043=) | |
| 8 | g.60853019A>T | CA461105184 | CHD7 | c.6294A>T (p.Arg2098=) c.1717-9210A>T (n.1717-9210A>T) c.6384A>T (p.Arg2128=) c.4371A>T (p.Arg1457=) c.3921A>T (p.Arg1307=) c.3129A>T (p.Arg1043=) |