| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60836915T>A | CA16618668 | CHD7 | c.4088T>A (p.Leu1363His) c.1717-25314T>A (n.1717-25314T>A) c.2075T>A (p.Leu692His) c.1625T>A (p.Leu542His) c.833T>A (p.Leu278His) | ClinVar dbSNP |
| 8 | g.60836915T>C | CA371316783 | CHD7 | c.4088T>C (p.Leu1363Pro) c.1717-25314T>C (n.1717-25314T>C) c.2075T>C (p.Leu692Pro) c.1625T>C (p.Leu542Pro) c.833T>C (p.Leu278Pro) | |
| 8 | g.60836915T>G | CA371316784 | CHD7 | c.4088T>G (p.Leu1363Arg) c.1717-25314T>G (n.1717-25314T>G) c.2075T>G (p.Leu692Arg) c.1625T>G (p.Leu542Arg) c.833T>G (p.Leu278Arg) | |
| 8 | g.60836915T= | CA1788113966 | CHD7 | c.4088T= (p.Leu1363=) c.1717-25314T= (n.1717-25314T=) c.2075T= (p.Leu692=) c.1625T= (p.Leu542=) c.833T= (p.Leu278=) | |
| 8 | g.60836916C>A | CA460846991 | CHD7 | c.4089C>A (p.Leu1363=) c.1717-25313C>A (n.1717-25313C>A) c.2076C>A (p.Leu692=) c.1626C>A (p.Leu542=) c.834C>A (p.Leu278=) | |
| 8 | g.60836916C= | CA1788113974 | CHD7 | c.4089C= (p.Leu1363=) c.1717-25313C= (n.1717-25313C=) c.2076C= (p.Leu692=) c.1626C= (p.Leu542=) c.834C= (p.Leu278=) | |
| 8 | g.60836916C>G | CA177344144 | CHD7 | c.4089C>G (p.Leu1363=) c.1717-25313C>G (n.1717-25313C>G) c.2076C>G (p.Leu692=) c.1626C>G (p.Leu542=) c.834C>G (p.Leu278=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836916C>T | CA460846992 | CHD7 | c.4089C>T (p.Leu1363=) c.1717-25313C>T (n.1717-25313C>T) c.2076C>T (p.Leu692=) c.1626C>T (p.Leu542=) c.834C>T (p.Leu278=) | dbSNP gnomAD v2 |
| 8 | g.60836917C>A | CA371316785 | CHD7 | c.4090C>A (p.Leu1364Met) c.1717-25312C>A (n.1717-25312C>A) c.2077C>A (p.Leu693Met) c.1627C>A (p.Leu543Met) c.835C>A (p.Leu279Met) | |
| 8 | g.60836917C= | CA1788113982 | CHD7 | c.4090C= (p.Leu1364=) c.1717-25312C= (n.1717-25312C=) c.2077C= (p.Leu693=) c.1627C= (p.Leu543=) c.835C= (p.Leu279=) | |
| 8 | g.60836917C>G | CA371316786 | CHD7 | c.4090C>G (p.Leu1364Val) c.1717-25312C>G (n.1717-25312C>G) c.2077C>G (p.Leu693Val) c.1627C>G (p.Leu543Val) c.835C>G (p.Leu279Val) | |
| 8 | g.60836917C>T | CA4760082 | CHD7 | c.4090C>T (p.Leu1364=) c.1717-25312C>T (n.1717-25312C>T) c.2077C>T (p.Leu693=) c.1627C>T (p.Leu543=) c.835C>T (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836918T>A | CA371316787 | CHD7 | c.4091T>A (p.Leu1364Gln) c.1717-25311T>A (n.1717-25311T>A) c.2078T>A (p.Leu693Gln) c.1628T>A (p.Leu543Gln) c.836T>A (p.Leu279Gln) | |
| 8 | g.60836918T>C | CA371316788 | CHD7 | c.4091T>C (p.Leu1364Pro) c.1717-25311T>C (n.1717-25311T>C) c.2078T>C (p.Leu693Pro) c.1628T>C (p.Leu543Pro) c.836T>C (p.Leu279Pro) | |
| 8 | g.60836918T>G | CA371316789 | CHD7 | c.4091T>G (p.Leu1364Arg) c.1717-25311T>G (n.1717-25311T>G) c.2078T>G (p.Leu693Arg) c.1628T>G (p.Leu543Arg) c.836T>G (p.Leu279Arg) | |
| 8 | g.60836919G>A | CA460846993 | CHD7 | c.4092G>A (p.Leu1364=) c.1717-25310G>A (n.1717-25310G>A) c.2079G>A (p.Leu693=) c.1629G>A (p.Leu543=) c.837G>A (p.Leu279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60836919G>C | CA460846994 | CHD7 | c.4092G>C (p.Leu1364=) c.1717-25310G>C (n.1717-25310G>C) c.2079G>C (p.Leu693=) c.1629G>C (p.Leu543=) c.837G>C (p.Leu279=) | gnomAD v4 |
| 8 | g.60836919G= | CA1788113986 | CHD7 | c.4092G= (p.Leu1364=) c.1717-25310G= (n.1717-25310G=) c.2079G= (p.Leu693=) c.1629G= (p.Leu543=) c.837G= (p.Leu279=) | |
| 8 | g.60836919G>T | CA460846995 | CHD7 | c.4092G>T (p.Leu1364=) c.1717-25310G>T (n.1717-25310G>T) c.2079G>T (p.Leu693=) c.1629G>T (p.Leu543=) c.837G>T (p.Leu279=) | |
| 8 | g.60836920T>A | CA371316791 | CHD7 | c.4093T>A (p.Cys1365Ser) c.1717-25309T>A (n.1717-25309T>A) c.2080T>A (p.Cys694Ser) c.1630T>A (p.Cys544Ser) c.838T>A (p.Cys280Ser) | |
| 8 | g.60836920T>C | CA371316792 | CHD7 | c.4093T>C (p.Cys1365Arg) c.1717-25309T>C (n.1717-25309T>C) c.2080T>C (p.Cys694Arg) c.1630T>C (p.Cys544Arg) c.838T>C (p.Cys280Arg) | |
| 8 | g.60836920T>G | CA371316790 | CHD7 | c.4093T>G (p.Cys1365Gly) c.1717-25309T>G (n.1717-25309T>G) c.2080T>G (p.Cys694Gly) c.1630T>G (p.Cys544Gly) c.838T>G (p.Cys280Gly) | |
| 8 | g.60836921G>A | CA371316793 | CHD7 | c.4094G>A (p.Cys1365Tyr) c.1717-25308G>A (n.1717-25308G>A) c.2081G>A (p.Cys694Tyr) c.1631G>A (p.Cys544Tyr) c.839G>A (p.Cys280Tyr) | |
| 8 | g.60836921G>C | CA371316794 | CHD7 | c.4094G>C (p.Cys1365Ser) c.1717-25308G>C (n.1717-25308G>C) c.2081G>C (p.Cys694Ser) c.1631G>C (p.Cys544Ser) c.839G>C (p.Cys280Ser) | |
| 8 | g.60836921G>T | CA371316795 | CHD7 | c.4094G>T (p.Cys1365Phe) c.1717-25308G>T (n.1717-25308G>T) c.2081G>T (p.Cys694Phe) c.1631G>T (p.Cys544Phe) c.839G>T (p.Cys280Phe) | |
| 8 | g.60836922T>A | CA371316796 | CHD7 | c.4095T>A (p.Cys1365Ter) c.1717-25307T>A (n.1717-25307T>A) c.2082T>A (p.Cys694Ter) c.1632T>A (p.Cys544Ter) c.840T>A (p.Cys280Ter) | |
| 8 | g.60836922T>C | CA460846996 | CHD7 | c.4095T>C (p.Cys1365=) c.1717-25307T>C (n.1717-25307T>C) c.2082T>C (p.Cys694=) c.1632T>C (p.Cys544=) c.840T>C (p.Cys280=) | |
| 8 | g.60836922T>G | CA371316797 | CHD7 | c.4095T>G (p.Cys1365Trp) c.1717-25307T>G (n.1717-25307T>G) c.2082T>G (p.Cys694Trp) c.1632T>G (p.Cys544Trp) c.840T>G (p.Cys280Trp) | |
| 8 | g.60836923A>C | CA371316800 | CHD7 | c.4096A>C (p.Thr1366Pro) c.1717-25306A>C (n.1717-25306A>C) c.2083A>C (p.Thr695Pro) c.1633A>C (p.Thr545Pro) c.841A>C (p.Thr281Pro) | |
| 8 | g.60836923A>G | CA371316799 | CHD7 | c.4096A>G (p.Thr1366Ala) c.1717-25306A>G (n.1717-25306A>G) c.2083A>G (p.Thr695Ala) c.1633A>G (p.Thr545Ala) c.841A>G (p.Thr281Ala) | |
| 8 | g.60836923A>T | CA371316798 | CHD7 | c.4096A>T (p.Thr1366Ser) c.1717-25306A>T (n.1717-25306A>T) c.2083A>T (p.Thr695Ser) c.1633A>T (p.Thr545Ser) c.841A>T (p.Thr281Ser) | |
| 8 | g.60836924C>A | CA371316801 | CHD7 | c.4097C>A (p.Thr1366Lys) c.1717-25305C>A (n.1717-25305C>A) c.2084C>A (p.Thr695Lys) c.1634C>A (p.Thr545Lys) c.842C>A (p.Thr281Lys) | |
| 8 | g.60836924C>G | CA371316802 | CHD7 | c.4097C>G (p.Thr1366Arg) c.1717-25305C>G (n.1717-25305C>G) c.2084C>G (p.Thr695Arg) c.1634C>G (p.Thr545Arg) c.842C>G (p.Thr281Arg) | |
| 8 | g.60836924C>T | CA371316803 | CHD7 | c.4097C>T (p.Thr1366Ile) c.1717-25305C>T (n.1717-25305C>T) c.2084C>T (p.Thr695Ile) c.1634C>T (p.Thr545Ile) c.842C>T (p.Thr281Ile) | |
| 8 | g.60836925A= | CA1788113990 | CHD7 | c.4098A= (p.Thr1366=) c.1717-25304A= (n.1717-25304A=) c.2085A= (p.Thr695=) c.1635A= (p.Thr545=) c.843A= (p.Thr281=) | |
| 8 | g.60836925A>C | CA460846997 | CHD7 | c.4098A>C (p.Thr1366=) c.1717-25304A>C (n.1717-25304A>C) c.2085A>C (p.Thr695=) c.1635A>C (p.Thr545=) c.843A>C (p.Thr281=) | |
| 8 | g.60836925A>G | CA460846998 | CHD7 | c.4098A>G (p.Thr1366=) c.1717-25304A>G (n.1717-25304A>G) c.2085A>G (p.Thr695=) c.1635A>G (p.Thr545=) c.843A>G (p.Thr281=) | dbSNP |
| 8 | g.60836925A>T | CA460846999 | CHD7 | c.4098A>T (p.Thr1366=) c.1717-25304A>T (n.1717-25304A>T) c.2085A>T (p.Thr695=) c.1635A>T (p.Thr545=) c.843A>T (p.Thr281=) | |
| 8 | g.60836926A= | CA1788114004 | CHD7 | c.4099A= (p.Arg1367=) c.1717-25303A= (n.1717-25303A=) c.2086A= (p.Arg696=) c.1636A= (p.Arg546=) c.844A= (p.Arg282=) | |
| 8 | g.60836926A>C | CA4760083 | CHD7 | c.4099A>C (p.Arg1367=) c.1717-25303A>C (n.1717-25303A>C) c.2086A>C (p.Arg696=) c.1636A>C (p.Arg546=) c.844A>C (p.Arg282=) | dbSNP ExAC gnomAD v4 |
| 8 | g.60836926A>G | CA371316804 | CHD7 | c.4099A>G (p.Arg1367Gly) c.1717-25303A>G (n.1717-25303A>G) c.2086A>G (p.Arg696Gly) c.1636A>G (p.Arg546Gly) c.844A>G (p.Arg282Gly) | |
| 8 | g.60836926A>T | CA371316805 | CHD7 | c.4099A>T (p.Arg1367Trp) c.1717-25303A>T (n.1717-25303A>T) c.2086A>T (p.Arg696Trp) c.1636A>T (p.Arg546Trp) c.844A>T (p.Arg282Trp) | |
| 8 | g.60836927G>A | CA371316806 | CHD7 | c.4100G>A (p.Arg1367Lys) c.1717-25302G>A (n.1717-25302G>A) c.2087G>A (p.Arg696Lys) c.1637G>A (p.Arg546Lys) c.845G>A (p.Arg282Lys) | dbSNP |
| 8 | g.60836927G>C | CA371316808 | CHD7 | c.4100G>C (p.Arg1367Thr) c.1717-25302G>C (n.1717-25302G>C) c.2087G>C (p.Arg696Thr) c.1637G>C (p.Arg546Thr) c.845G>C (p.Arg282Thr) | |
| 8 | g.60836927G= | CA1788114022 | CHD7 | c.4100G= (p.Arg1367=) c.1717-25302G= (n.1717-25302G=) c.2087G= (p.Arg696=) c.1637G= (p.Arg546=) c.845G= (p.Arg282=) | |
| 8 | g.60836927G>T | CA371316807 | CHD7 | c.4100G>T (p.Arg1367Met) c.1717-25302G>T (n.1717-25302G>T) c.2087G>T (p.Arg696Met) c.1637G>T (p.Arg546Met) c.845G>T (p.Arg282Met) | |
| 8 | g.60836928G>A | CA4760084 | CHD7 | c.4101G>A (p.Arg1367=) c.1717-25301G>A (n.1717-25301G>A) c.2088G>A (p.Arg696=) c.1638G>A (p.Arg546=) c.846G>A (p.Arg282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836928G>C | CA371316809 | CHD7 | c.4101G>C (p.Arg1367Ser) c.1717-25301G>C (n.1717-25301G>C) c.2088G>C (p.Arg696Ser) c.1638G>C (p.Arg546Ser) c.846G>C (p.Arg282Ser) | |
| 8 | g.60836928G= | CA1788114026 | CHD7 | c.4101G= (p.Arg1367=) c.1717-25301G= (n.1717-25301G=) c.2088G= (p.Arg696=) c.1638G= (p.Arg546=) c.846G= (p.Arg282=) | |
| 8 | g.60836928G>T | CA371316810 | CHD7 | c.4101G>T (p.Arg1367Ser) c.1717-25301G>T (n.1717-25301G>T) c.2088G>T (p.Arg696Ser) c.1638G>T (p.Arg546Ser) c.846G>T (p.Arg282Ser) |