UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.60836929G>A | CA371316811 | CHD7 | c.4102G>A (p.Ala1368Thr) c.1717-25300G>A (n.1717-25300G>A) c.2089G>A (p.Ala697Thr) c.1639G>A (p.Ala547Thr) c.847G>A (p.Ala283Thr) | gnomAD v4 |
| 8 | g.60836929G>C | CA371316812 | CHD7 | c.4102G>C (p.Ala1368Pro) c.1717-25300G>C (n.1717-25300G>C) c.2089G>C (p.Ala697Pro) c.1639G>C (p.Ala547Pro) c.847G>C (p.Ala283Pro) | |
| 8 | g.60836929G>T | CA371316813 | CHD7 | c.4102G>T (p.Ala1368Ser) c.1717-25300G>T (n.1717-25300G>T) c.2089G>T (p.Ala697Ser) c.1639G>T (p.Ala547Ser) c.847G>T (p.Ala283Ser) | |
| 8 | g.60836929_60836930dup | CA2695209687 | CHD7 | c.4102_4103dup (p.Gly1369GlnfsTer4) c.1717-25300_1717-25299dup (n.1717-25300_1717-25299dup) c.2089_2090dup (p.Gly698GlnfsTer4) c.1639_1640dup (p.Gly548GlnfsTer4) c.847_848dup (p.Gly284GlnfsTer4) | |
| 8 | g.60836930C>A | CA371316814 | CHD7 | c.4103C>A (p.Ala1368Glu) c.1717-25299C>A (n.1717-25299C>A) c.2090C>A (p.Ala697Glu) c.1640C>A (p.Ala547Glu) c.848C>A (p.Ala283Glu) | |
| 8 | g.60836930C>G | CA371316815 | CHD7 | c.4103C>G (p.Ala1368Gly) c.1717-25299C>G (n.1717-25299C>G) c.2090C>G (p.Ala697Gly) c.1640C>G (p.Ala547Gly) c.848C>G (p.Ala283Gly) | |
| 8 | g.60836930C>T | CA371316816 | CHD7 | c.4103C>T (p.Ala1368Val) c.1717-25299C>T (n.1717-25299C>T) c.2090C>T (p.Ala697Val) c.1640C>T (p.Ala547Val) c.848C>T (p.Ala283Val) | |
| 8 | g.60836931A= | CA1788114043 | CHD7 | c.4104A= (p.Ala1368=) c.1717-25298A= (n.1717-25298A=) c.2091A= (p.Ala697=) c.1641A= (p.Ala547=) c.849A= (p.Ala283=) | |
| 8 | g.60836931A>C | CA460847000 | CHD7 | c.4104A>C (p.Ala1368=) c.1717-25298A>C (n.1717-25298A>C) c.2091A>C (p.Ala697=) c.1641A>C (p.Ala547=) c.849A>C (p.Ala283=) | |
| 8 | g.60836931A>G | CA4760085 | CHD7 | c.4104A>G (p.Ala1368=) c.1717-25298A>G (n.1717-25298A>G) c.2091A>G (p.Ala697=) c.1641A>G (p.Ala547=) c.849A>G (p.Ala283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836931A>T | CA460847001 | CHD7 | c.4104A>T (p.Ala1368=) c.1717-25298A>T (n.1717-25298A>T) c.2091A>T (p.Ala697=) c.1641A>T (p.Ala547=) c.849A>T (p.Ala283=) | gnomAD v4 COSMIC |
| 8 | g.60836932G>A | CA371316817 | CHD7 | c.4105G>A (p.Gly1369Arg) c.1717-25297G>A (n.1717-25297G>A) c.2092G>A (p.Gly698Arg) c.1642G>A (p.Gly548Arg) c.850G>A (p.Gly284Arg) | |
| 8 | g.60836932G>C | CA371316819 | CHD7 | c.4105G>C (p.Gly1369Arg) c.1717-25297G>C (n.1717-25297G>C) c.2092G>C (p.Gly698Arg) c.1642G>C (p.Gly548Arg) c.850G>C (p.Gly284Arg) | |
| 8 | g.60836932G>T | CA371316818 | CHD7 | c.4105G>T (p.Gly1369Ter) c.1717-25297G>T (n.1717-25297G>T) c.2092G>T (p.Gly698Ter) c.1642G>T (p.Gly548Ter) c.850G>T (p.Gly284Ter) | |
| 8 | g.60836933G>A | CA371316820 | CHD7 | c.4106G>A (p.Gly1369Glu) c.1717-25296G>A (n.1717-25296G>A) c.2093G>A (p.Gly698Glu) c.1643G>A (p.Gly548Glu) c.851G>A (p.Gly284Glu) | |
| 8 | g.60836933G>C | CA371316822 | CHD7 | c.4106G>C (p.Gly1369Ala) c.1717-25296G>C (n.1717-25296G>C) c.2093G>C (p.Gly698Ala) c.1643G>C (p.Gly548Ala) c.851G>C (p.Gly284Ala) | |
| 8 | g.60836933G>T | CA371316821 | CHD7 | c.4106G>T (p.Gly1369Val) c.1717-25296G>T (n.1717-25296G>T) c.2093G>T (p.Gly698Val) c.1643G>T (p.Gly548Val) c.851G>T (p.Gly284Val) | |
| 8 | g.60836934A>C | CA460847002 | CHD7 | c.4107A>C (p.Gly1369=) c.1717-25295A>C (n.1717-25295A>C) c.2094A>C (p.Gly698=) c.1644A>C (p.Gly548=) c.852A>C (p.Gly284=) | |
| 8 | g.60836934A>G | CA460847003 | CHD7 | c.4107A>G (p.Gly1369=) c.1717-25295A>G (n.1717-25295A>G) c.2094A>G (p.Gly698=) c.1644A>G (p.Gly548=) c.852A>G (p.Gly284=) | |
| 8 | g.60836934A>T | CA460847004 | CHD7 | c.4107A>T (p.Gly1369=) c.1717-25295A>T (n.1717-25295A>T) c.2094A>T (p.Gly698=) c.1644A>T (p.Gly548=) c.852A>T (p.Gly284=) | |
| 8 | g.60836935G>A | CA371316823 | CHD7 | c.4108G>A (p.Gly1370Ser) c.1717-25294G>A (n.1717-25294G>A) c.2095G>A (p.Gly699Ser) c.1645G>A (p.Gly549Ser) c.853G>A (p.Gly285Ser) | |
| 8 | g.60836935G>C | CA371316825 | CHD7 | c.4108G>C (p.Gly1370Arg) c.1717-25294G>C (n.1717-25294G>C) c.2095G>C (p.Gly699Arg) c.1645G>C (p.Gly549Arg) c.853G>C (p.Gly285Arg) | |
| 8 | g.60836935G>T | CA371316824 | CHD7 | c.4108G>T (p.Gly1370Cys) c.1717-25294G>T (n.1717-25294G>T) c.2095G>T (p.Gly699Cys) c.1645G>T (p.Gly549Cys) c.853G>T (p.Gly285Cys) | |
| 8 | g.60836936G>A | CA371316826 | CHD7 | c.4109G>A (p.Gly1370Asp) c.1717-25293G>A (n.1717-25293G>A) c.2096G>A (p.Gly699Asp) c.1646G>A (p.Gly549Asp) c.854G>A (p.Gly285Asp) | |
| 8 | g.60836936G>C | CA371316828 | CHD7 | c.4109G>C (p.Gly1370Ala) c.1717-25293G>C (n.1717-25293G>C) c.2096G>C (p.Gly699Ala) c.1646G>C (p.Gly549Ala) c.854G>C (p.Gly285Ala) | |
| 8 | g.60836936G>T | CA371316827 | CHD7 | c.4109G>T (p.Gly1370Val) c.1717-25293G>T (n.1717-25293G>T) c.2096G>T (p.Gly699Val) c.1646G>T (p.Gly549Val) c.854G>T (p.Gly285Val) | |
| 8 | g.60836937T>A | CA460847005 | CHD7 | c.4110T>A (p.Gly1370=) c.1717-25292T>A (n.1717-25292T>A) c.2097T>A (p.Gly699=) c.1647T>A (p.Gly549=) c.855T>A (p.Gly285=) | gnomAD v4 |
| 8 | g.60836937T>C | CA460847006 | CHD7 | c.4110T>C (p.Gly1370=) c.1717-25292T>C (n.1717-25292T>C) c.2097T>C (p.Gly699=) c.1647T>C (p.Gly549=) c.855T>C (p.Gly285=) | |
| 8 | g.60836937T>G | CA460847007 | CHD7 | c.4110T>G (p.Gly1370=) c.1717-25292T>G (n.1717-25292T>G) c.2097T>G (p.Gly699=) c.1647T>G (p.Gly549=) c.855T>G (p.Gly285=) | |
| 8 | g.60836939dup | CA2695209688 | CHD7 | c.4112dup (p.Leu1371PhefsTer4) c.1717-25290dup (n.1717-25290dup) c.2099dup (p.Leu700PhefsTer4) c.1649dup (p.Leu550PhefsTer4) c.857dup (p.Leu286PhefsTer4) | |
| 8 | g.60836938T>A | CA371316838 | CHD7 | c.4111T>A (p.Leu1371Ile) c.1717-25291T>A (n.1717-25291T>A) c.2098T>A (p.Leu700Ile) c.1648T>A (p.Leu550Ile) c.856T>A (p.Leu286Ile) | |
| 8 | g.60836938T>C | CA460847008 | CHD7 | c.4111T>C (p.Leu1371=) c.1717-25291T>C (n.1717-25291T>C) c.2098T>C (p.Leu700=) c.1648T>C (p.Leu550=) c.856T>C (p.Leu286=) | |
| 8 | g.60836938T>G | CA371316840 | CHD7 | c.4111T>G (p.Leu1371Val) c.1717-25291T>G (n.1717-25291T>G) c.2098T>G (p.Leu700Val) c.1648T>G (p.Leu550Val) c.856T>G (p.Leu286Val) | COSMIC |
| 8 | g.60836939T>A | CA371316841 | CHD7 | c.4112T>A (p.Leu1371Ter) c.1717-25290T>A (n.1717-25290T>A) c.2099T>A (p.Leu700Ter) c.1649T>A (p.Leu550Ter) c.857T>A (p.Leu286Ter) | |
| 8 | g.60836939T>C | CA371316842 | CHD7 | c.4112T>C (p.Leu1371Ser) c.1717-25290T>C (n.1717-25290T>C) c.2099T>C (p.Leu700Ser) c.1649T>C (p.Leu550Ser) c.857T>C (p.Leu286Ser) | |
| 8 | g.60836939T>G | CA371316844 | CHD7 | c.4112T>G (p.Leu1371Ter) c.1717-25290T>G (n.1717-25290T>G) c.2099T>G (p.Leu700Ter) c.1649T>G (p.Leu550Ter) c.857T>G (p.Leu286Ter) | ClinVar dbSNP |
| 8 | g.60836939T= | CA1788114051 | CHD7 | c.4112T= (p.Leu1371=) c.1717-25290T= (n.1717-25290T=) c.2099T= (p.Leu700=) c.1649T= (p.Leu550=) c.857T= (p.Leu286=) | |
| 8 | g.60836940A>C | CA371316846 | CHD7 | c.4113A>C (p.Leu1371Phe) c.1717-25289A>C (n.1717-25289A>C) c.2100A>C (p.Leu700Phe) c.1650A>C (p.Leu550Phe) c.858A>C (p.Leu286Phe) | |
| 8 | g.60836940A>G | CA460847009 | CHD7 | c.4113A>G (p.Leu1371=) c.1717-25289A>G (n.1717-25289A>G) c.2100A>G (p.Leu700=) c.1650A>G (p.Leu550=) c.858A>G (p.Leu286=) | |
| 8 | g.60836940A>T | CA371316847 | CHD7 | c.4113A>T (p.Leu1371Phe) c.1717-25289A>T (n.1717-25289A>T) c.2100A>T (p.Leu700Phe) c.1650A>T (p.Leu550Phe) c.858A>T (p.Leu286Phe) | |
| 8 | g.60836940_60836941insCA | CA2695209689 | CHD7 | c.4113_4114insCA (p.Gly1372GlnfsTer?) c.1717-25289_1717-25288insCA (n.1717-25289_1717-25288insCA) c.2100_2101insCA (p.Gly701GlnfsTer?) c.1650_1651insCA (p.Gly551GlnfsTer?) c.858_859insCA (p.Gly287GlnfsTer?) | |
| 8 | g.60836941G>A | CA371316849 | CHD7 | c.4114G>A (p.Gly1372Ser) c.1717-25288G>A (n.1717-25288G>A) c.2101G>A (p.Gly701Ser) c.1651G>A (p.Gly551Ser) c.859G>A (p.Gly287Ser) | |
| 8 | g.60836941G>C | CA371316850 | CHD7 | c.4114G>C (p.Gly1372Arg) c.1717-25288G>C (n.1717-25288G>C) c.2101G>C (p.Gly701Arg) c.1651G>C (p.Gly551Arg) c.859G>C (p.Gly287Arg) | |
| 8 | g.60836941G>T | CA371316851 | CHD7 | c.4114G>T (p.Gly1372Cys) c.1717-25288G>T (n.1717-25288G>T) c.2101G>T (p.Gly701Cys) c.1651G>T (p.Gly551Cys) c.859G>T (p.Gly287Cys) | |
| 8 | g.60836942G>A | CA371316854 | CHD7 | c.4115G>A (p.Gly1372Asp) c.1717-25287G>A (n.1717-25287G>A) c.2102G>A (p.Gly701Asp) c.1652G>A (p.Gly551Asp) c.860G>A (p.Gly287Asp) | |
| 8 | g.60836942G>C | CA371316852 | CHD7 | c.4115G>C (p.Gly1372Ala) c.1717-25287G>C (n.1717-25287G>C) c.2102G>C (p.Gly701Ala) c.1652G>C (p.Gly551Ala) c.860G>C (p.Gly287Ala) | |
| 8 | g.60836942G>T | CA371316853 | CHD7 | c.4115G>T (p.Gly1372Val) c.1717-25287G>T (n.1717-25287G>T) c.2102G>T (p.Gly701Val) c.1652G>T (p.Gly551Val) c.860G>T (p.Gly287Val) | |
| 8 | g.60836942_60836943delinsTT | CA2573053034 | CHD7 | c.4115_4116delinsTT (p.Gly1372Val) c.1717-25287_1717-25286delinsTT (n.1717-25287_1717-25286delinsTT) c.2102_2103delinsTT (p.Gly701Val) c.1652_1653delinsTT (p.Gly551Val) c.860_861delinsTT (p.Gly287Val) | ClinVar dbSNP |
| 8 | g.60836943C>A | CA460847010 | CHD7 | c.4116C>A (p.Gly1372=) c.1717-25286C>A (n.1717-25286C>A) c.2103C>A (p.Gly701=) c.1653C>A (p.Gly551=) c.861C>A (p.Gly287=) | |
| 8 | g.60836943C>G | CA460847011 | CHD7 | c.4116C>G (p.Gly1372=) c.1717-25286C>G (n.1717-25286C>G) c.2103C>G (p.Gly701=) c.1653C>G (p.Gly551=) c.861C>G (p.Gly287=) | |
| 8 | g.60836943C>T | CA460847012 | CHD7 | c.4116C>T (p.Gly1372=) c.1717-25286C>T (n.1717-25286C>T) c.2103C>T (p.Gly701=) c.1653C>T (p.Gly551=) c.861C>T (p.Gly287=) | |
| 8 | g.60836944A>C | CA371316855 | CHD7 | c.4117A>C (p.Ile1373Leu) c.1717-25285A>C (n.1717-25285A>C) c.2104A>C (p.Ile702Leu) c.1654A>C (p.Ile552Leu) c.862A>C (p.Ile288Leu) | |
| 8 | g.60836944A>G | CA371316856 | CHD7 | c.4117A>G (p.Ile1373Val) c.1717-25285A>G (n.1717-25285A>G) c.2104A>G (p.Ile702Val) c.1654A>G (p.Ile552Val) c.862A>G (p.Ile288Val) | gnomAD v4 |
| 8 | g.60836944A>T | CA371316857 | CHD7 | c.4117A>T (p.Ile1373Phe) c.1717-25285A>T (n.1717-25285A>T) c.2104A>T (p.Ile702Phe) c.1654A>T (p.Ile552Phe) c.862A>T (p.Ile288Phe) | |
| 8 | g.60836945T>A | CA371316858 | CHD7 | c.4118T>A (p.Ile1373Asn) c.1717-25284T>A (n.1717-25284T>A) c.2105T>A (p.Ile702Asn) c.1655T>A (p.Ile552Asn) c.863T>A (p.Ile288Asn) | |
| 8 | g.60836945T>C | CA371316859 | CHD7 | c.4118T>C (p.Ile1373Thr) c.1717-25284T>C (n.1717-25284T>C) c.2105T>C (p.Ile702Thr) c.1655T>C (p.Ile552Thr) c.863T>C (p.Ile288Thr) | |
| 8 | g.60836945T>G | CA371316860 | CHD7 | c.4118T>G (p.Ile1373Ser) c.1717-25284T>G (n.1717-25284T>G) c.2105T>G (p.Ile702Ser) c.1655T>G (p.Ile552Ser) c.863T>G (p.Ile288Ser) | |
| 8 | g.60836946T>A | CA460847013 | CHD7 | c.4119T>A (p.Ile1373=) c.1717-25283T>A (n.1717-25283T>A) c.2106T>A (p.Ile702=) c.1656T>A (p.Ile552=) c.864T>A (p.Ile288=) | |
| 8 | g.60836946T>C | CA460847014 | CHD7 | c.4119T>C (p.Ile1373=) c.1717-25283T>C (n.1717-25283T>C) c.2106T>C (p.Ile702=) c.1656T>C (p.Ile552=) c.864T>C (p.Ile288=) | |
| 8 | g.60836946T>G | CA371316864 | CHD7 | c.4119T>G (p.Ile1373Met) c.1717-25283T>G (n.1717-25283T>G) c.2106T>G (p.Ile702Met) c.1656T>G (p.Ile552Met) c.864T>G (p.Ile288Met) | ClinVar |
| 8 | g.60836947A>C | CA371316866 | CHD7 | c.4120A>C (p.Asn1374His) c.1717-25282A>C (n.1717-25282A>C) c.2107A>C (p.Asn703His) c.1657A>C (p.Asn553His) c.865A>C (p.Asn289His) | |
| 8 | g.60836947A>G | CA371316867 | CHD7 | c.4120A>G (p.Asn1374Asp) c.1717-25282A>G (n.1717-25282A>G) c.2107A>G (p.Asn703Asp) c.1657A>G (p.Asn553Asp) c.865A>G (p.Asn289Asp) | |
| 8 | g.60836947A>T | CA371316868 | CHD7 | c.4120A>T (p.Asn1374Tyr) c.1717-25282A>T (n.1717-25282A>T) c.2107A>T (p.Asn703Tyr) c.1657A>T (p.Asn553Tyr) c.865A>T (p.Asn289Tyr) | |
| 8 | g.60836947_60836948dup | CA2573053035 | CHD7 | c.4120_4121dup (p.Asn1374LysfsTer31) c.1717-25282_1717-25281dup (n.1717-25282_1717-25281dup) c.2107_2108dup (p.Asn703LysfsTer31) c.1657_1658dup (p.Asn553LysfsTer31) c.865_866dup (p.Asn289LysfsTer31) | ClinVar dbSNP |
| 8 | g.60836948A>C | CA371316871 | CHD7 | c.4121A>C (p.Asn1374Thr) c.1717-25281A>C (n.1717-25281A>C) c.2108A>C (p.Asn703Thr) c.1658A>C (p.Asn553Thr) c.866A>C (p.Asn289Thr) | |
| 8 | g.60836948A>G | CA371316872 | CHD7 | c.4121A>G (p.Asn1374Ser) c.1717-25281A>G (n.1717-25281A>G) c.2108A>G (p.Asn703Ser) c.1658A>G (p.Asn553Ser) c.866A>G (p.Asn289Ser) | |
| 8 | g.60836948A>T | CA371316870 | CHD7 | c.4121A>T (p.Asn1374Ile) c.1717-25281A>T (n.1717-25281A>T) c.2108A>T (p.Asn703Ile) c.1658A>T (p.Asn553Ile) c.866A>T (p.Asn289Ile) | |
| 8 | g.60836949C>A | CA371316874 | CHD7 | c.4122C>A (p.Asn1374Lys) c.1717-25280C>A (n.1717-25280C>A) c.2109C>A (p.Asn703Lys) c.1659C>A (p.Asn553Lys) c.867C>A (p.Asn289Lys) | |
| 8 | g.60836949C>G | CA371316877 | CHD7 | c.4122C>G (p.Asn1374Lys) c.1717-25280C>G (n.1717-25280C>G) c.2109C>G (p.Asn703Lys) c.1659C>G (p.Asn553Lys) c.867C>G (p.Asn289Lys) | |
| 8 | g.60836949C>T | CA460847015 | CHD7 | c.4122C>T (p.Asn1374=) c.1717-25280C>T (n.1717-25280C>T) c.2109C>T (p.Asn703=) c.1659C>T (p.Asn553=) c.867C>T (p.Asn289=) | |
| 8 | g.60836950C>A | CA371316879 | CHD7 | c.4123C>A (p.Leu1375Ile) c.1717-25279C>A (n.1717-25279C>A) c.2110C>A (p.Leu704Ile) c.1660C>A (p.Leu554Ile) c.868C>A (p.Leu290Ile) | |
| 8 | g.60836950C>G | CA371316880 | CHD7 | c.4123C>G (p.Leu1375Val) c.1717-25279C>G (n.1717-25279C>G) c.2110C>G (p.Leu704Val) c.1660C>G (p.Leu554Val) c.868C>G (p.Leu290Val) | |
| 8 | g.60836950C>T | CA371316882 | CHD7 | c.4123C>T (p.Leu1375Phe) c.1717-25279C>T (n.1717-25279C>T) c.2110C>T (p.Leu704Phe) c.1660C>T (p.Leu554Phe) c.868C>T (p.Leu290Phe) | |
| 8 | g.60836951T>A | CA371316884 | CHD7 | c.4124T>A (p.Leu1375His) c.1717-25278T>A (n.1717-25278T>A) c.2111T>A (p.Leu704His) c.1661T>A (p.Leu554His) c.869T>A (p.Leu290His) | |
| 8 | g.60836951T>C | CA371316885 | CHD7 | c.4124T>C (p.Leu1375Pro) c.1717-25278T>C (n.1717-25278T>C) c.2111T>C (p.Leu704Pro) c.1661T>C (p.Leu554Pro) c.869T>C (p.Leu290Pro) | |
| 8 | g.60836951T>G | CA371316886 | CHD7 | c.4124T>G (p.Leu1375Arg) c.1717-25278T>G (n.1717-25278T>G) c.2111T>G (p.Leu704Arg) c.1661T>G (p.Leu554Arg) c.869T>G (p.Leu290Arg) | |
| 8 | g.60836952C>A | CA460847016 | CHD7 | c.4125C>A (p.Leu1375=) c.1717-25277C>A (n.1717-25277C>A) c.2112C>A (p.Leu704=) c.1662C>A (p.Leu554=) c.870C>A (p.Leu290=) | |
| 8 | g.60836952C= | CA1788114059 | CHD7 | c.4125C= (p.Leu1375=) c.1717-25277C= (n.1717-25277C=) c.2112C= (p.Leu704=) c.1662C= (p.Leu554=) c.870C= (p.Leu290=) | |
| 8 | g.60836952C>G | CA460847017 | CHD7 | c.4125C>G (p.Leu1375=) c.1717-25277C>G (n.1717-25277C>G) c.2112C>G (p.Leu704=) c.1662C>G (p.Leu554=) c.870C>G (p.Leu290=) | |
| 8 | g.60836952C>T | CA4760086 | CHD7 | c.4125C>T (p.Leu1375=) c.1717-25277C>T (n.1717-25277C>T) c.2112C>T (p.Leu704=) c.1662C>T (p.Leu554=) c.870C>T (p.Leu290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836953A>C | CA371316888 | CHD7 | c.4126A>C (p.Thr1376Pro) c.1717-25276A>C (n.1717-25276A>C) c.2113A>C (p.Thr705Pro) c.1663A>C (p.Thr555Pro) c.871A>C (p.Thr291Pro) | |
| 8 | g.60836953A>G | CA371316890 | CHD7 | c.4126A>G (p.Thr1376Ala) c.1717-25276A>G (n.1717-25276A>G) c.2113A>G (p.Thr705Ala) c.1663A>G (p.Thr555Ala) c.871A>G (p.Thr291Ala) | |
| 8 | g.60836953A>T | CA371316891 | CHD7 | c.4126A>T (p.Thr1376Ser) c.1717-25276A>T (n.1717-25276A>T) c.2113A>T (p.Thr705Ser) c.1663A>T (p.Thr555Ser) c.871A>T (p.Thr291Ser) | |
| 8 | g.60836954C>A | CA371316896 | CHD7 | c.4127C>A (p.Thr1376Asn) c.1717-25275C>A (n.1717-25275C>A) c.2114C>A (p.Thr705Asn) c.1664C>A (p.Thr555Asn) c.872C>A (p.Thr291Asn) | |
| 8 | g.60836954C>G | CA371316893 | CHD7 | c.4127C>G (p.Thr1376Ser) c.1717-25275C>G (n.1717-25275C>G) c.2114C>G (p.Thr705Ser) c.1664C>G (p.Thr555Ser) c.872C>G (p.Thr291Ser) | |
| 8 | g.60836954C>T | CA371316894 | CHD7 | c.4127C>T (p.Thr1376Ile) c.1717-25275C>T (n.1717-25275C>T) c.2114C>T (p.Thr705Ile) c.1664C>T (p.Thr555Ile) c.872C>T (p.Thr291Ile) | |
| 8 | g.60836955T>A | CA460847018 | CHD7 | c.4128T>A (p.Thr1376=) c.1717-25274T>A (n.1717-25274T>A) c.2115T>A (p.Thr705=) c.1665T>A (p.Thr555=) c.873T>A (p.Thr291=) | |
| 8 | g.60836955T>C | CA460847019 | CHD7 | c.4128T>C (p.Thr1376=) c.1717-25274T>C (n.1717-25274T>C) c.2115T>C (p.Thr705=) c.1665T>C (p.Thr555=) c.873T>C (p.Thr291=) | |
| 8 | g.60836955T>G | CA460847020 | CHD7 | c.4128T>G (p.Thr1376=) c.1717-25274T>G (n.1717-25274T>G) c.2115T>G (p.Thr705=) c.1665T>G (p.Thr555=) c.873T>G (p.Thr291=) | |
| 8 | g.60836956G>A | CA371316897 | CHD7 | c.4129G>A (p.Ala1377Thr) c.1717-25273G>A (n.1717-25273G>A) c.2116G>A (p.Ala706Thr) c.1666G>A (p.Ala556Thr) c.874G>A (p.Ala292Thr) | |
| 8 | g.60836956G>C | CA371316898 | CHD7 | c.4129G>C (p.Ala1377Pro) c.1717-25273G>C (n.1717-25273G>C) c.2116G>C (p.Ala706Pro) c.1666G>C (p.Ala556Pro) c.874G>C (p.Ala292Pro) | |
| 8 | g.60836956G>T | CA371316900 | CHD7 | c.4129G>T (p.Ala1377Ser) c.1717-25273G>T (n.1717-25273G>T) c.2116G>T (p.Ala706Ser) c.1666G>T (p.Ala556Ser) c.874G>T (p.Ala292Ser) | |
| 8 | g.60836957C>A | CA371316902 | CHD7 | c.4130C>A (p.Ala1377Asp) c.1717-25272C>A (n.1717-25272C>A) c.2117C>A (p.Ala706Asp) c.1667C>A (p.Ala556Asp) c.875C>A (p.Ala292Asp) | |
| 8 | g.60836957C>G | CA371316903 | CHD7 | c.4130C>G (p.Ala1377Gly) c.1717-25272C>G (n.1717-25272C>G) c.2117C>G (p.Ala706Gly) c.1667C>G (p.Ala556Gly) c.875C>G (p.Ala292Gly) | |
| 8 | g.60836957C>T | CA371316904 | CHD7 | c.4130C>T (p.Ala1377Val) c.1717-25272C>T (n.1717-25272C>T) c.2117C>T (p.Ala706Val) c.1667C>T (p.Ala556Val) c.875C>T (p.Ala292Val) | COSMIC |
| 8 | g.60836958T>A | CA460847021 | CHD7 | c.4131T>A (p.Ala1377=) c.1717-25271T>A (n.1717-25271T>A) c.2118T>A (p.Ala706=) c.1668T>A (p.Ala556=) c.876T>A (p.Ala292=) | gnomAD v4 |
| 8 | g.60836958T>C | CA460847022 | CHD7 | c.4131T>C (p.Ala1377=) c.1717-25271T>C (n.1717-25271T>C) c.2118T>C (p.Ala706=) c.1668T>C (p.Ala556=) c.876T>C (p.Ala292=) | |
| 8 | g.60836958T>G | CA460847023 | CHD7 | c.4131T>G (p.Ala1377=) c.1717-25271T>G (n.1717-25271T>G) c.2118T>G (p.Ala706=) c.1668T>G (p.Ala556=) c.876T>G (p.Ala292=) | |
| 8 | g.60836959G>A | CA371316905 | CHD7 | c.4132G>A (p.Ala1378Thr) c.1717-25270G>A (n.1717-25270G>A) c.2119G>A (p.Ala707Thr) c.1669G>A (p.Ala557Thr) c.877G>A (p.Ala293Thr) | |
| 8 | g.60836959G>C | CA371316906 | CHD7 | c.4132G>C (p.Ala1378Pro) c.1717-25270G>C (n.1717-25270G>C) c.2119G>C (p.Ala707Pro) c.1669G>C (p.Ala557Pro) c.877G>C (p.Ala293Pro) | ClinVar |
| 8 | g.60836959G>T | CA371316907 | CHD7 | c.4132G>T (p.Ala1378Ser) c.1717-25270G>T (n.1717-25270G>T) c.2119G>T (p.Ala707Ser) c.1669G>T (p.Ala557Ser) c.877G>T (p.Ala293Ser) | |
| 8 | g.60836960C>A | CA371316909 | CHD7 | c.4133C>A (p.Ala1378Asp) c.1717-25269C>A (n.1717-25269C>A) c.2120C>A (p.Ala707Asp) c.1670C>A (p.Ala557Asp) c.878C>A (p.Ala293Asp) | |
| 8 | g.60836960C>G | CA371316910 | CHD7 | c.4133C>G (p.Ala1378Gly) c.1717-25269C>G (n.1717-25269C>G) c.2120C>G (p.Ala707Gly) c.1670C>G (p.Ala557Gly) c.878C>G (p.Ala293Gly) | |
| 8 | g.60836960C>T | CA371316912 | CHD7 | c.4133C>T (p.Ala1378Val) c.1717-25269C>T (n.1717-25269C>T) c.2120C>T (p.Ala707Val) c.1670C>T (p.Ala557Val) c.878C>T (p.Ala293Val) | ClinVar |
| 8 | g.60836961T>A | CA460847026 | CHD7 | c.4134T>A (p.Ala1378=) c.1717-25268T>A (n.1717-25268T>A) c.2121T>A (p.Ala707=) c.1671T>A (p.Ala557=) c.879T>A (p.Ala293=) | |
| 8 | g.60836961T>C | CA460847025 | CHD7 | c.4134T>C (p.Ala1378=) c.1717-25268T>C (n.1717-25268T>C) c.2121T>C (p.Ala707=) c.1671T>C (p.Ala557=) c.879T>C (p.Ala293=) | |
| 8 | g.60836961T>G | CA460847024 | CHD7 | c.4134T>G (p.Ala1378=) c.1717-25268T>G (n.1717-25268T>G) c.2121T>G (p.Ala707=) c.1671T>G (p.Ala557=) c.879T>G (p.Ala293=) | |
| 8 | g.60836962G>A | CA371316914 | CHD7 | c.4135G>A (p.Asp1379Asn) c.1717-25267G>A (n.1717-25267G>A) c.2122G>A (p.Asp708Asn) c.1672G>A (p.Asp558Asn) c.880G>A (p.Asp294Asn) | |
| 8 | g.60836962G>C | CA371316915 | CHD7 | c.4135G>C (p.Asp1379His) c.1717-25267G>C (n.1717-25267G>C) c.2122G>C (p.Asp708His) c.1672G>C (p.Asp558His) c.880G>C (p.Asp294His) | |
| 8 | g.60836962G>T | CA371316913 | CHD7 | c.4135G>T (p.Asp1379Tyr) c.1717-25267G>T (n.1717-25267G>T) c.2122G>T (p.Asp708Tyr) c.1672G>T (p.Asp558Tyr) c.880G>T (p.Asp294Tyr) | |
| 8 | g.60836963A= | CA1788114063 | CHD7 | c.4136A= (p.Asp1379=) c.1717-25266A= (n.1717-25266A=) c.2123A= (p.Asp708=) c.1673A= (p.Asp558=) c.881A= (p.Asp294=) | |
| 8 | g.60836963A>C | CA371316918 | CHD7 | c.4136A>C (p.Asp1379Ala) c.1717-25266A>C (n.1717-25266A>C) c.2123A>C (p.Asp708Ala) c.1673A>C (p.Asp558Ala) c.881A>C (p.Asp294Ala) | ClinVar dbSNP |
| 8 | g.60836963A>G | CA371316916 | CHD7 | c.4136A>G (p.Asp1379Gly) c.1717-25266A>G (n.1717-25266A>G) c.2123A>G (p.Asp708Gly) c.1673A>G (p.Asp558Gly) c.881A>G (p.Asp294Gly) | |
| 8 | g.60836963A>T | CA371316917 | CHD7 | c.4136A>T (p.Asp1379Val) c.1717-25266A>T (n.1717-25266A>T) c.2123A>T (p.Asp708Val) c.1673A>T (p.Asp558Val) c.881A>T (p.Asp294Val) | ClinVar |
| 8 | g.60836964T>A | CA371316919 | CHD7 | c.4137T>A (p.Asp1379Glu) c.1717-25265T>A (n.1717-25265T>A) c.2124T>A (p.Asp708Glu) c.1674T>A (p.Asp558Glu) c.882T>A (p.Asp294Glu) | |
| 8 | g.60836964T>C | CA240925 | CHD7 | c.4137T>C (p.Asp1379=) c.1717-25265T>C (n.1717-25265T>C) c.2124T>C (p.Asp708=) c.1674T>C (p.Asp558=) c.882T>C (p.Asp294=) | ClinVar dbSNP |
| 8 | g.60836964T>G | CA371316921 | CHD7 | c.4137T>G (p.Asp1379Glu) c.1717-25265T>G (n.1717-25265T>G) c.2124T>G (p.Asp708Glu) c.1674T>G (p.Asp558Glu) c.882T>G (p.Asp294Glu) | |
| 8 | g.60836964T= | CA1788114073 | CHD7 | c.4137T= (p.Asp1379=) c.1717-25265T= (n.1717-25265T=) c.2124T= (p.Asp708=) c.1674T= (p.Asp558=) c.882T= (p.Asp294=) | |
| 8 | g.60836965A>C | CA371316923 | CHD7 | c.4138A>C (p.Thr1380Pro) c.1717-25264A>C (n.1717-25264A>C) c.2125A>C (p.Thr709Pro) c.1675A>C (p.Thr559Pro) c.883A>C (p.Thr295Pro) | |
| 8 | g.60836965A>G | CA371316924 | CHD7 | c.4138A>G (p.Thr1380Ala) c.1717-25264A>G (n.1717-25264A>G) c.2125A>G (p.Thr709Ala) c.1675A>G (p.Thr559Ala) c.883A>G (p.Thr295Ala) | |
| 8 | g.60836965A>T | CA371316926 | CHD7 | c.4138A>T (p.Thr1380Ser) c.1717-25264A>T (n.1717-25264A>T) c.2125A>T (p.Thr709Ser) c.1675A>T (p.Thr559Ser) c.883A>T (p.Thr295Ser) | |
| 8 | g.60836965dup | CA2695209690 | CHD7 | c.4138dup (p.Thr1380AsnfsTer6) c.1717-25264dup (n.1717-25264dup) c.2125dup (p.Thr709AsnfsTer6) c.1675dup (p.Thr559AsnfsTer6) c.883dup (p.Thr295AsnfsTer6) | |
| 8 | g.60836966C>A | CA371316928 | CHD7 | c.4139C>A (p.Thr1380Asn) c.1717-25263C>A (n.1717-25263C>A) c.2126C>A (p.Thr709Asn) c.1676C>A (p.Thr559Asn) c.884C>A (p.Thr295Asn) | ClinVar |
| 8 | g.60836966C= | CA1788114084 | CHD7 | c.4139C= (p.Thr1380=) c.1717-25263C= (n.1717-25263C=) c.2126C= (p.Thr709=) c.1676C= (p.Thr559=) c.884C= (p.Thr295=) | |
| 8 | g.60836966C>G | CA371316929 | CHD7 | c.4139C>G (p.Thr1380Ser) c.1717-25263C>G (n.1717-25263C>G) c.2126C>G (p.Thr709Ser) c.1676C>G (p.Thr559Ser) c.884C>G (p.Thr295Ser) | |
| 8 | g.60836966C>T | CA4760087 | CHD7 | c.4139C>T (p.Thr1380Ile) c.1717-25263C>T (n.1717-25263C>T) c.2126C>T (p.Thr709Ile) c.1676C>T (p.Thr559Ile) c.884C>T (p.Thr295Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60836967C>A | CA460847027 | CHD7 | c.4140C>A (p.Thr1380=) c.1717-25262C>A (n.1717-25262C>A) c.2127C>A (p.Thr709=) c.1677C>A (p.Thr559=) c.885C>A (p.Thr295=) | |
| 8 | g.60836967C= | CA1788114088 | CHD7 | c.4140C= (p.Thr1380=) c.1717-25262C= (n.1717-25262C=) c.2127C= (p.Thr709=) c.1677C= (p.Thr559=) c.885C= (p.Thr295=) | |
| 8 | g.60836967C>G | CA460847029 | CHD7 | c.4140C>G (p.Thr1380=) c.1717-25262C>G (n.1717-25262C>G) c.2127C>G (p.Thr709=) c.1677C>G (p.Thr559=) c.885C>G (p.Thr295=) | |
| 8 | g.60836967C>T | CA460847028 | CHD7 | c.4140C>T (p.Thr1380=) c.1717-25262C>T (n.1717-25262C>T) c.2127C>T (p.Thr709=) c.1677C>T (p.Thr559=) c.885C>T (p.Thr295=) | dbSNP |
| 8 | g.60836968T>A | CA371316935 | CHD7 | c.4141T>A (p.Cys1381Ser) c.1717-25261T>A (n.1717-25261T>A) c.2128T>A (p.Cys710Ser) c.1678T>A (p.Cys560Ser) c.886T>A (p.Cys296Ser) | |
| 8 | g.60836968T>C | CA371316933 | CHD7 | c.4141T>C (p.Cys1381Arg) c.1717-25261T>C (n.1717-25261T>C) c.2128T>C (p.Cys710Arg) c.1678T>C (p.Cys560Arg) c.886T>C (p.Cys296Arg) | |
| 8 | g.60836968T>G | CA371316932 | CHD7 | c.4141T>G (p.Cys1381Gly) c.1717-25261T>G (n.1717-25261T>G) c.2128T>G (p.Cys710Gly) c.1678T>G (p.Cys560Gly) c.886T>G (p.Cys296Gly) | |
| 8 | g.60836969G>A | CA371316936 | CHD7 | c.4142G>A (p.Cys1381Tyr) c.1717-25260G>A (n.1717-25260G>A) c.2129G>A (p.Cys710Tyr) c.1679G>A (p.Cys560Tyr) c.887G>A (p.Cys296Tyr) | |
| 8 | g.60836969G>C | CA371316937 | CHD7 | c.4142G>C (p.Cys1381Ser) c.1717-25260G>C (n.1717-25260G>C) c.2129G>C (p.Cys710Ser) c.1679G>C (p.Cys560Ser) c.887G>C (p.Cys296Ser) | |
| 8 | g.60836969G>T | CA371316939 | CHD7 | c.4142G>T (p.Cys1381Phe) c.1717-25260G>T (n.1717-25260G>T) c.2129G>T (p.Cys710Phe) c.1679G>T (p.Cys560Phe) c.887G>T (p.Cys296Phe) | COSMIC |
| 8 | g.60836970C>A | CA371316944 | CHD7 | c.4143C>A (p.Cys1381Ter) c.1717-25259C>A (n.1717-25259C>A) c.2130C>A (p.Cys710Ter) c.1680C>A (p.Cys560Ter) c.888C>A (p.Cys296Ter) | |
| 8 | g.60836970C>G | CA371316945 | CHD7 | c.4143C>G (p.Cys1381Trp) c.1717-25259C>G (n.1717-25259C>G) c.2130C>G (p.Cys710Trp) c.1680C>G (p.Cys560Trp) c.888C>G (p.Cys296Trp) | |
| 8 | g.60836970C>T | CA460847030 | CHD7 | c.4143C>T (p.Cys1381=) c.1717-25259C>T (n.1717-25259C>T) c.2130C>T (p.Cys710=) c.1680C>T (p.Cys560=) c.888C>T (p.Cys296=) | |
| 8 | g.60836971A>C | CA371316947 | CHD7 | c.4144A>C (p.Ile1382Leu) c.1717-25258A>C (n.1717-25258A>C) c.2131A>C (p.Ile711Leu) c.1681A>C (p.Ile561Leu) c.889A>C (p.Ile297Leu) | |
| 8 | g.60836971A>G | CA371316949 | CHD7 | c.4144A>G (p.Ile1382Val) c.1717-25258A>G (n.1717-25258A>G) c.2131A>G (p.Ile711Val) c.1681A>G (p.Ile561Val) c.889A>G (p.Ile297Val) | gnomAD v4 |
| 8 | g.60836971A>T | CA371316950 | CHD7 | c.4144A>T (p.Ile1382Phe) c.1717-25258A>T (n.1717-25258A>T) c.2131A>T (p.Ile711Phe) c.1681A>T (p.Ile561Phe) c.889A>T (p.Ile297Phe) | |
| 8 | g.60836972T>A | CA371316951 | CHD7 | c.4145T>A (p.Ile1382Asn) c.1717-25257T>A (n.1717-25257T>A) c.2132T>A (p.Ile711Asn) c.1682T>A (p.Ile561Asn) c.890T>A (p.Ile297Asn) | |
| 8 | g.60836972T>C | CA371316952 | CHD7 | c.4145T>C (p.Ile1382Thr) c.1717-25257T>C (n.1717-25257T>C) c.2132T>C (p.Ile711Thr) c.1682T>C (p.Ile561Thr) c.890T>C (p.Ile297Thr) | |
| 8 | g.60836972T>G | CA371316954 | CHD7 | c.4145T>G (p.Ile1382Ser) c.1717-25257T>G (n.1717-25257T>G) c.2132T>G (p.Ile711Ser) c.1682T>G (p.Ile561Ser) c.890T>G (p.Ile297Ser) | |
| 8 | g.60836973C>A | CA460847031 | CHD7 | c.4146C>A (p.Ile1382=) c.1717-25256C>A (n.1717-25256C>A) c.2133C>A (p.Ile711=) c.1683C>A (p.Ile561=) c.891C>A (p.Ile297=) | |
| 8 | g.60836973C= | CA1788114100 | CHD7 | c.4146C= (p.Ile1382=) c.1717-25256C= (n.1717-25256C=) c.2133C= (p.Ile711=) c.1683C= (p.Ile561=) c.891C= (p.Ile297=) | |
| 8 | g.60836973C>G | CA371316956 | CHD7 | c.4146C>G (p.Ile1382Met) c.1717-25256C>G (n.1717-25256C>G) c.2133C>G (p.Ile711Met) c.1683C>G (p.Ile561Met) c.891C>G (p.Ile297Met) | |
| 8 | g.60836973C>T | CA4760088 | CHD7 | c.4146C>T (p.Ile1382=) c.1717-25256C>T (n.1717-25256C>T) c.2133C>T (p.Ile711=) c.1683C>T (p.Ile561=) c.891C>T (p.Ile297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60836974A>C | CA371316959 | CHD7 | c.4147A>C (p.Ile1383Leu) c.1717-25255A>C (n.1717-25255A>C) c.2134A>C (p.Ile712Leu) c.1684A>C (p.Ile562Leu) c.892A>C (p.Ile298Leu) | |
| 8 | g.60836974A>G | CA371316961 | CHD7 | c.4147A>G (p.Ile1383Val) c.1717-25255A>G (n.1717-25255A>G) c.2134A>G (p.Ile712Val) c.1684A>G (p.Ile562Val) c.892A>G (p.Ile298Val) | |
| 8 | g.60836974A>T | CA371316958 | CHD7 | c.4147A>T (p.Ile1383Phe) c.1717-25255A>T (n.1717-25255A>T) c.2134A>T (p.Ile712Phe) c.1684A>T (p.Ile562Phe) c.892A>T (p.Ile298Phe) | |
| 8 | g.60836975T>A | CA371316962 | CHD7 | c.4148T>A (p.Ile1383Asn) c.1717-25254T>A (n.1717-25254T>A) c.2135T>A (p.Ile712Asn) c.1685T>A (p.Ile562Asn) c.893T>A (p.Ile298Asn) | |
| 8 | g.60836975T>C | CA371316963 | CHD7 | c.4148T>C (p.Ile1383Thr) c.1717-25254T>C (n.1717-25254T>C) c.2135T>C (p.Ile712Thr) c.1685T>C (p.Ile562Thr) c.893T>C (p.Ile298Thr) | |
| 8 | g.60836975T>G | CA371316964 | CHD7 | c.4148T>G (p.Ile1383Ser) c.1717-25254T>G (n.1717-25254T>G) c.2135T>G (p.Ile712Ser) c.1685T>G (p.Ile562Ser) c.893T>G (p.Ile298Ser) | |
| 8 | g.60836976C>A | CA460847032 | CHD7 | c.4149C>A (p.Ile1383=) c.1717-25253C>A (n.1717-25253C>A) c.2136C>A (p.Ile712=) c.1686C>A (p.Ile562=) c.894C>A (p.Ile298=) | |
| 8 | g.60836976C>G | CA371316965 | CHD7 | c.4149C>G (p.Ile1383Met) c.1717-25253C>G (n.1717-25253C>G) c.2136C>G (p.Ile712Met) c.1686C>G (p.Ile562Met) c.894C>G (p.Ile298Met) | |
| 8 | g.60836976C>T | CA460847033 | CHD7 | c.4149C>T (p.Ile1383=) c.1717-25253C>T (n.1717-25253C>T) c.2136C>T (p.Ile712=) c.1686C>T (p.Ile562=) c.894C>T (p.Ile298=) | |
| 8 | g.60836977T>A | CA371316966 | CHD7 | c.4150T>A (p.Phe1384Ile) c.1717-25252T>A (n.1717-25252T>A) c.2137T>A (p.Phe713Ile) c.1687T>A (p.Phe563Ile) c.895T>A (p.Phe299Ile) | |
| 8 | g.60836977T>C | CA371316968 | CHD7 | c.4150T>C (p.Phe1384Leu) c.1717-25252T>C (n.1717-25252T>C) c.2137T>C (p.Phe713Leu) c.1687T>C (p.Phe563Leu) c.895T>C (p.Phe299Leu) | |
| 8 | g.60836977T>G | CA371316969 | CHD7 | c.4150T>G (p.Phe1384Val) c.1717-25252T>G (n.1717-25252T>G) c.2137T>G (p.Phe713Val) c.1687T>G (p.Phe563Val) c.895T>G (p.Phe299Val) | |
| 8 | g.60836978T>A | CA371316971 | CHD7 | c.4151T>A (p.Phe1384Tyr) c.1717-25251T>A (n.1717-25251T>A) c.2138T>A (p.Phe713Tyr) c.1688T>A (p.Phe563Tyr) c.896T>A (p.Phe299Tyr) | |
| 8 | g.60836978T>C | CA371316972 | CHD7 | c.4151T>C (p.Phe1384Ser) c.1717-25251T>C (n.1717-25251T>C) c.2138T>C (p.Phe713Ser) c.1688T>C (p.Phe563Ser) c.896T>C (p.Phe299Ser) | |
| 8 | g.60836978T>G | CA371316973 | CHD7 | c.4151T>G (p.Phe1384Cys) c.1717-25251T>G (n.1717-25251T>G) c.2138T>G (p.Phe713Cys) c.1688T>G (p.Phe563Cys) c.896T>G (p.Phe299Cys) | |
| 8 | g.60836979T>A | CA371316974 | CHD7 | c.4152T>A (p.Phe1384Leu) c.1717-25250T>A (n.1717-25250T>A) c.2139T>A (p.Phe713Leu) c.1689T>A (p.Phe563Leu) c.897T>A (p.Phe299Leu) | |
| 8 | g.60836979T>C | CA460847034 | CHD7 | c.4152T>C (p.Phe1384=) c.1717-25250T>C (n.1717-25250T>C) c.2139T>C (p.Phe713=) c.1689T>C (p.Phe563=) c.897T>C (p.Phe299=) | |
| 8 | g.60836979T>G | CA371316975 | CHD7 | c.4152T>G (p.Phe1384Leu) c.1717-25250T>G (n.1717-25250T>G) c.2139T>G (p.Phe713Leu) c.1689T>G (p.Phe563Leu) c.897T>G (p.Phe299Leu) | |
| 8 | g.60836980G>A | CA371316979 | CHD7 | c.4153G>A (p.Asp1385Asn) c.1717-25249G>A (n.1717-25249G>A) c.2140G>A (p.Asp714Asn) c.1690G>A (p.Asp564Asn) c.898G>A (p.Asp300Asn) | |
| 8 | g.60836980G>C | CA371316980 | CHD7 | c.4153G>C (p.Asp1385His) c.1717-25249G>C (n.1717-25249G>C) c.2140G>C (p.Asp714His) c.1690G>C (p.Asp564His) c.898G>C (p.Asp300His) | |
| 8 | g.60836980G>T | CA371316977 | CHD7 | c.4153G>T (p.Asp1385Tyr) c.1717-25249G>T (n.1717-25249G>T) c.2140G>T (p.Asp714Tyr) c.1690G>T (p.Asp564Tyr) c.898G>T (p.Asp300Tyr) | |
| 8 | g.60836981A>C | CA371316982 | CHD7 | c.4154A>C (p.Asp1385Ala) c.1717-25248A>C (n.1717-25248A>C) c.2141A>C (p.Asp714Ala) c.1691A>C (p.Asp564Ala) c.899A>C (p.Asp300Ala) | |
| 8 | g.60836981A>G | CA371316984 | CHD7 | c.4154A>G (p.Asp1385Gly) c.1717-25248A>G (n.1717-25248A>G) c.2141A>G (p.Asp714Gly) c.1691A>G (p.Asp564Gly) c.899A>G (p.Asp300Gly) | |
| 8 | g.60836981A>T | CA371316986 | CHD7 | c.4154A>T (p.Asp1385Val) c.1717-25248A>T (n.1717-25248A>T) c.2141A>T (p.Asp714Val) c.1691A>T (p.Asp564Val) c.899A>T (p.Asp300Val) | |
| 8 | g.60836982T>A | CA371316987 | CHD7 | c.4155T>A (p.Asp1385Glu) c.1717-25247T>A (n.1717-25247T>A) c.2142T>A (p.Asp714Glu) c.1692T>A (p.Asp564Glu) c.900T>A (p.Asp300Glu) | |
| 8 | g.60836982T>C | CA460847035 | CHD7 | c.4155T>C (p.Asp1385=) c.1717-25247T>C (n.1717-25247T>C) c.2142T>C (p.Asp714=) c.1692T>C (p.Asp564=) c.900T>C (p.Asp300=) | |
| 8 | g.60836982T>G | CA371316988 | CHD7 | c.4155T>G (p.Asp1385Glu) c.1717-25247T>G (n.1717-25247T>G) c.2142T>G (p.Asp714Glu) c.1692T>G (p.Asp564Glu) c.900T>G (p.Asp300Glu) | |
| 8 | g.60836983T>A | CA371316992 | CHD7 | c.4156T>A (p.Ser1386Thr) c.1717-25246T>A (n.1717-25246T>A) c.2143T>A (p.Ser715Thr) c.1693T>A (p.Ser565Thr) c.901T>A (p.Ser301Thr) | |
| 8 | g.60836983T>C | CA371316991 | CHD7 | c.4156T>C (p.Ser1386Pro) c.1717-25246T>C (n.1717-25246T>C) c.2143T>C (p.Ser715Pro) c.1693T>C (p.Ser565Pro) c.901T>C (p.Ser301Pro) | |
| 8 | g.60836983T>G | CA371316990 | CHD7 | c.4156T>G (p.Ser1386Ala) c.1717-25246T>G (n.1717-25246T>G) c.2143T>G (p.Ser715Ala) c.1693T>G (p.Ser565Ala) c.901T>G (p.Ser301Ala) | |
| 8 | g.60836984C>A | CA371316993 | CHD7 | c.4157C>A (p.Ser1386Ter) c.1717-25245C>A (n.1717-25245C>A) c.2144C>A (p.Ser715Ter) c.1694C>A (p.Ser565Ter) c.902C>A (p.Ser301Ter) | |
| 8 | g.60836984C>G | CA371316994 | CHD7 | c.4157C>G (p.Ser1386Ter) c.1717-25245C>G (n.1717-25245C>G) c.2144C>G (p.Ser715Ter) c.1694C>G (p.Ser565Ter) c.902C>G (p.Ser301Ter) | |
| 8 | g.60836984C>T | CA371316995 | CHD7 | c.4157C>T (p.Ser1386Leu) c.1717-25245C>T (n.1717-25245C>T) c.2144C>T (p.Ser715Leu) c.1694C>T (p.Ser565Leu) c.902C>T (p.Ser301Leu) | |
| 8 | g.60836985A>C | CA460847036 | CHD7 | c.4158A>C (p.Ser1386=) c.1717-25244A>C (n.1717-25244A>C) c.2145A>C (p.Ser715=) c.1695A>C (p.Ser565=) c.903A>C (p.Ser301=) | |
| 8 | g.60836985A>G | CA460847037 | CHD7 | c.4158A>G (p.Ser1386=) c.1717-25244A>G (n.1717-25244A>G) c.2145A>G (p.Ser715=) c.1695A>G (p.Ser565=) c.903A>G (p.Ser301=) | gnomAD v4 |
| 8 | g.60836985A>T | CA460847038 | CHD7 | c.4158A>T (p.Ser1386=) c.1717-25244A>T (n.1717-25244A>T) c.2145A>T (p.Ser715=) c.1695A>T (p.Ser565=) c.903A>T (p.Ser301=) | |
| 8 | g.60836986G>A | CA371316996 | CHD7 | c.4159G>A (p.Asp1387Asn) c.1717-25243G>A (n.1717-25243G>A) c.2146G>A (p.Asp716Asn) c.1696G>A (p.Asp566Asn) c.904G>A (p.Asp302Asn) | ClinVar dbSNP |
| 8 | g.60836986G>C | CA371316997 | CHD7 | c.4159G>C (p.Asp1387His) c.1717-25243G>C (n.1717-25243G>C) c.2146G>C (p.Asp716His) c.1696G>C (p.Asp566His) c.904G>C (p.Asp302His) | |
| 8 | g.60836986G= | CA1788114115 | CHD7 | c.4159G= (p.Asp1387=) c.1717-25243G= (n.1717-25243G=) c.2146G= (p.Asp716=) c.1696G= (p.Asp566=) c.904G= (p.Asp302=) | |
| 8 | g.60836986G>T | CA371316998 | CHD7 | c.4159G>T (p.Asp1387Tyr) c.1717-25243G>T (n.1717-25243G>T) c.2146G>T (p.Asp716Tyr) c.1696G>T (p.Asp566Tyr) c.904G>T (p.Asp302Tyr) | |
| 8 | g.60836987A>C | CA371317005 | CHD7 | c.4160A>C (p.Asp1387Ala) c.1717-25242A>C (n.1717-25242A>C) c.2147A>C (p.Asp716Ala) c.1697A>C (p.Asp566Ala) c.905A>C (p.Asp302Ala) | |
| 8 | g.60836987A>G | CA371317002 | CHD7 | c.4160A>G (p.Asp1387Gly) c.1717-25242A>G (n.1717-25242A>G) c.2147A>G (p.Asp716Gly) c.1697A>G (p.Asp566Gly) c.905A>G (p.Asp302Gly) | ClinVar |
| 8 | g.60836987A>T | CA371317000 | CHD7 | c.4160A>T (p.Asp1387Val) c.1717-25242A>T (n.1717-25242A>T) c.2147A>T (p.Asp716Val) c.1697A>T (p.Asp566Val) c.905A>T (p.Asp302Val) | |
| 8 | g.60836988C>A | CA371317007 | CHD7 | c.4161C>A (p.Asp1387Glu) c.1717-25241C>A (n.1717-25241C>A) c.2148C>A (p.Asp716Glu) c.1698C>A (p.Asp566Glu) c.906C>A (p.Asp302Glu) | COSMIC |
| 8 | g.60836988C= | CA1788114128 | CHD7 | c.4161C= (p.Asp1387=) c.1717-25241C= (n.1717-25241C=) c.2148C= (p.Asp716=) c.1698C= (p.Asp566=) c.906C= (p.Asp302=) | |
| 8 | g.60836988C>G | CA371317009 | CHD7 | c.4161C>G (p.Asp1387Glu) c.1717-25241C>G (n.1717-25241C>G) c.2148C>G (p.Asp716Glu) c.1698C>G (p.Asp566Glu) c.906C>G (p.Asp302Glu) | |
| 8 | g.60836988C>T | CA177344164 | CHD7 | c.4161C>T (p.Asp1387=) c.1717-25241C>T (n.1717-25241C>T) c.2148C>T (p.Asp716=) c.1698C>T (p.Asp566=) c.906C>T (p.Asp302=) | dbSNP gnomAD v4 |
| 8 | g.60836989T>A | CA371317011 | CHD7 | c.4162T>A (p.Trp1388Arg) c.1717-25240T>A (n.1717-25240T>A) c.2149T>A (p.Trp717Arg) c.1699T>A (p.Trp567Arg) c.907T>A (p.Trp303Arg) | |
| 8 | g.60836989T>C | CA371317014 | CHD7 | c.4162T>C (p.Trp1388Arg) c.1717-25240T>C (n.1717-25240T>C) c.2149T>C (p.Trp717Arg) c.1699T>C (p.Trp567Arg) c.907T>C (p.Trp303Arg) | ClinVar |
| 8 | g.60836989T>G | CA371317012 | CHD7 | c.4162T>G (p.Trp1388Gly) c.1717-25240T>G (n.1717-25240T>G) c.2149T>G (p.Trp717Gly) c.1699T>G (p.Trp567Gly) c.907T>G (p.Trp303Gly) | |
| 8 | g.60836990G>A | CA371317016 | CHD7 | c.4163G>A (p.Trp1388Ter) c.1717-25239G>A (n.1717-25239G>A) c.2150G>A (p.Trp717Ter) c.1700G>A (p.Trp567Ter) c.908G>A (p.Trp303Ter) | |
| 8 | g.60836990G>C | CA371317018 | CHD7 | c.4163G>C (p.Trp1388Ser) c.1717-25239G>C (n.1717-25239G>C) c.2150G>C (p.Trp717Ser) c.1700G>C (p.Trp567Ser) c.908G>C (p.Trp303Ser) | |
| 8 | g.60836990G>T | CA371317019 | CHD7 | c.4163G>T (p.Trp1388Leu) c.1717-25239G>T (n.1717-25239G>T) c.2150G>T (p.Trp717Leu) c.1700G>T (p.Trp567Leu) c.908G>T (p.Trp303Leu) | |
| 8 | g.60836991G>A | CA371317020 | CHD7 | c.4164G>A (p.Trp1388Ter) c.1717-25238G>A (n.1717-25238G>A) c.2151G>A (p.Trp717Ter) c.1701G>A (p.Trp567Ter) c.909G>A (p.Trp303Ter) | |
| 8 | g.60836991G>C | CA371317023 | CHD7 | c.4164G>C (p.Trp1388Cys) c.1717-25238G>C (n.1717-25238G>C) c.2151G>C (p.Trp717Cys) c.1701G>C (p.Trp567Cys) c.909G>C (p.Trp303Cys) | |
| 8 | g.60836991G>T | CA371317025 | CHD7 | c.4164G>T (p.Trp1388Cys) c.1717-25238G>T (n.1717-25238G>T) c.2151G>T (p.Trp717Cys) c.1701G>T (p.Trp567Cys) c.909G>T (p.Trp303Cys) | |
| 8 | g.60836992A>C | CA371317028 | CHD7 | c.4165A>C (p.Asn1389His) c.1717-25237A>C (n.1717-25237A>C) c.2152A>C (p.Asn718His) c.1702A>C (p.Asn568His) c.910A>C (p.Asn304His) | |
| 8 | g.60836992A>G | CA371317030 | CHD7 | c.4165A>G (p.Asn1389Asp) c.1717-25237A>G (n.1717-25237A>G) c.2152A>G (p.Asn718Asp) c.1702A>G (p.Asn568Asp) c.910A>G (p.Asn304Asp) | gnomAD v4 |
| 8 | g.60836992A>T | CA371317039 | CHD7 | c.4165A>T (p.Asn1389Tyr) c.1717-25237A>T (n.1717-25237A>T) c.2152A>T (p.Asn718Tyr) c.1702A>T (p.Asn568Tyr) c.910A>T (p.Asn304Tyr) | |
| 8 | g.60836993A>C | CA371317042 | CHD7 | c.4166A>C (p.Asn1389Thr) c.1717-25236A>C (n.1717-25236A>C) c.2153A>C (p.Asn718Thr) c.1703A>C (p.Asn568Thr) c.911A>C (p.Asn304Thr) | |
| 8 | g.60836993A>G | CA371317047 | CHD7 | c.4166A>G (p.Asn1389Ser) c.1717-25236A>G (n.1717-25236A>G) c.2153A>G (p.Asn718Ser) c.1703A>G (p.Asn568Ser) c.911A>G (p.Asn304Ser) | |
| 8 | g.60836993A>T | CA371317049 | CHD7 | c.4166A>T (p.Asn1389Ile) c.1717-25236A>T (n.1717-25236A>T) c.2153A>T (p.Asn718Ile) c.1703A>T (p.Asn568Ile) c.911A>T (p.Asn304Ile) | |
| 8 | g.60836994T>A | CA371317053 | CHD7 | c.4167T>A (p.Asn1389Lys) c.1717-25235T>A (n.1717-25235T>A) c.2154T>A (p.Asn718Lys) c.1704T>A (p.Asn568Lys) c.912T>A (p.Asn304Lys) | gnomAD v4 |
| 8 | g.60836994T>C | CA460847039 | CHD7 | c.4167T>C (p.Asn1389=) c.1717-25235T>C (n.1717-25235T>C) c.2154T>C (p.Asn718=) c.1704T>C (p.Asn568=) c.912T>C (p.Asn304=) | |
| 8 | g.60836994T>G | CA371317051 | CHD7 | c.4167T>G (p.Asn1389Lys) c.1717-25235T>G (n.1717-25235T>G) c.2154T>G (p.Asn718Lys) c.1704T>G (p.Asn568Lys) c.912T>G (p.Asn304Lys) | |
| 8 | g.60836995C>A | CA371317055 | CHD7 | c.4168C>A (p.Pro1390Thr) c.1717-25234C>A (n.1717-25234C>A) c.2155C>A (p.Pro719Thr) c.1705C>A (p.Pro569Thr) c.913C>A (p.Pro305Thr) | gnomAD v4 |
| 8 | g.60836995C>G | CA371317057 | CHD7 | c.4168C>G (p.Pro1390Ala) c.1717-25234C>G (n.1717-25234C>G) c.2155C>G (p.Pro719Ala) c.1705C>G (p.Pro569Ala) c.913C>G (p.Pro305Ala) | |
| 8 | g.60836995C>T | CA371317058 | CHD7 | c.4168C>T (p.Pro1390Ser) c.1717-25234C>T (n.1717-25234C>T) c.2155C>T (p.Pro719Ser) c.1705C>T (p.Pro569Ser) c.913C>T (p.Pro305Ser) | |
| 8 | g.60836998del | CA2695209691 | CHD7 | c.4171del (p.Gln1391LysfsTer13) c.1717-25231del (n.1717-25231del) c.2158del (p.Gln720LysfsTer13) c.1708del (p.Gln570LysfsTer13) c.916del (p.Gln306LysfsTer13) | |
| 8 | g.60836996C>A | CA371317061 | CHD7 | c.4169C>A (p.Pro1390His) c.1717-25233C>A (n.1717-25233C>A) c.2156C>A (p.Pro719His) c.1706C>A (p.Pro569His) c.914C>A (p.Pro305His) | |
| 8 | g.60836996C>G | CA371317067 | CHD7 | c.4169C>G (p.Pro1390Arg) c.1717-25233C>G (n.1717-25233C>G) c.2156C>G (p.Pro719Arg) c.1706C>G (p.Pro569Arg) c.914C>G (p.Pro305Arg) | |
| 8 | g.60836996C>T | CA371317069 | CHD7 | c.4169C>T (p.Pro1390Leu) c.1717-25233C>T (n.1717-25233C>T) c.2156C>T (p.Pro719Leu) c.1706C>T (p.Pro569Leu) c.914C>T (p.Pro305Leu) | gnomAD v4 |
| 8 | g.60836997C>A | CA460847041 | CHD7 | c.4170C>A (p.Pro1390=) c.1717-25232C>A (n.1717-25232C>A) c.2157C>A (p.Pro719=) c.1707C>A (p.Pro569=) c.915C>A (p.Pro305=) | |
| 8 | g.60836997C= | CA1788114130 | CHD7 | c.4170C= (p.Pro1390=) c.1717-25232C= (n.1717-25232C=) c.2157C= (p.Pro719=) c.1707C= (p.Pro569=) c.915C= (p.Pro305=) | |
| 8 | g.60836997C>G | CA460847040 | CHD7 | c.4170C>G (p.Pro1390=) c.1717-25232C>G (n.1717-25232C>G) c.2157C>G (p.Pro719=) c.1707C>G (p.Pro569=) c.915C>G (p.Pro305=) | |
| 8 | g.60836997C>T | CA177344168 | CHD7 | c.4170C>T (p.Pro1390=) c.1717-25232C>T (n.1717-25232C>T) c.2157C>T (p.Pro719=) c.1707C>T (p.Pro569=) c.915C>T (p.Pro305=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60836998C>A | CA371317073 | CHD7 | c.4171C>A (p.Gln1391Lys) c.1717-25231C>A (n.1717-25231C>A) c.2158C>A (p.Gln720Lys) c.1708C>A (p.Gln570Lys) c.916C>A (p.Gln306Lys) | |
| 8 | g.60836998C>G | CA371317078 | CHD7 | c.4171C>G (p.Gln1391Glu) c.1717-25231C>G (n.1717-25231C>G) c.2158C>G (p.Gln720Glu) c.1708C>G (p.Gln570Glu) c.916C>G (p.Gln306Glu) | |
| 8 | g.60836998C>T | CA371317081 | CHD7 | c.4171C>T (p.Gln1391Ter) c.1717-25231C>T (n.1717-25231C>T) c.2158C>T (p.Gln720Ter) c.1708C>T (p.Gln570Ter) c.916C>T (p.Gln306Ter) | |
| 8 | g.60836999A>C | CA371317083 | CHD7 | c.4172A>C (p.Gln1391Pro) c.1717-25230A>C (n.1717-25230A>C) c.2159A>C (p.Gln720Pro) c.1709A>C (p.Gln570Pro) c.917A>C (p.Gln306Pro) | gnomAD v4 |
| 8 | g.60836999A>G | CA371317086 | CHD7 | c.4172A>G (p.Gln1391Arg) c.1717-25230A>G (n.1717-25230A>G) c.2159A>G (p.Gln720Arg) c.1709A>G (p.Gln570Arg) c.917A>G (p.Gln306Arg) | |
| 8 | g.60836999A>T | CA371317087 | CHD7 | c.4172A>T (p.Gln1391Leu) c.1717-25230A>T (n.1717-25230A>T) c.2159A>T (p.Gln720Leu) c.1709A>T (p.Gln570Leu) c.917A>T (p.Gln306Leu) | |
| 8 | g.60837000A>C | CA371317089 | CHD7 | c.4173A>C (p.Gln1391His) c.1717-25229A>C (n.1717-25229A>C) c.2160A>C (p.Gln720His) c.1710A>C (p.Gln570His) c.918A>C (p.Gln306His) | |
| 8 | g.60837000A>G | CA460847042 | CHD7 | c.4173A>G (p.Gln1391=) c.1717-25229A>G (n.1717-25229A>G) c.2160A>G (p.Gln720=) c.1710A>G (p.Gln570=) c.918A>G (p.Gln306=) | |
| 8 | g.60837000A>T | CA371317090 | CHD7 | c.4173A>T (p.Gln1391His) c.1717-25229A>T (n.1717-25229A>T) c.2160A>T (p.Gln720His) c.1710A>T (p.Gln570His) c.918A>T (p.Gln306His) | |
| 8 | g.60837001A>C | CA371317098 | CHD7 | c.4174A>C (p.Asn1392His) c.1717-25228A>C (n.1717-25228A>C) c.2161A>C (p.Asn721His) c.1711A>C (p.Asn571His) c.919A>C (p.Asn307His) | |
| 8 | g.60837001A>G | CA371317099 | CHD7 | c.4174A>G (p.Asn1392Asp) c.1717-25228A>G (n.1717-25228A>G) c.2161A>G (p.Asn721Asp) c.1711A>G (p.Asn571Asp) c.919A>G (p.Asn307Asp) | |
| 8 | g.60837001A>T | CA371317103 | CHD7 | c.4174A>T (p.Asn1392Tyr) c.1717-25228A>T (n.1717-25228A>T) c.2161A>T (p.Asn721Tyr) c.1711A>T (p.Asn571Tyr) c.919A>T (p.Asn307Tyr) | |
| 8 | g.60837002A>C | CA371317104 | CHD7 | c.4175A>C (p.Asn1392Thr) c.1717-25227A>C (n.1717-25227A>C) c.2162A>C (p.Asn721Thr) c.1712A>C (p.Asn571Thr) c.920A>C (p.Asn307Thr) | |
| 8 | g.60837002A>G | CA371317106 | CHD7 | c.4175A>G (p.Asn1392Ser) c.1717-25227A>G (n.1717-25227A>G) c.2162A>G (p.Asn721Ser) c.1712A>G (p.Asn571Ser) c.920A>G (p.Asn307Ser) | gnomAD v4 |
| 8 | g.60837002A>T | CA371317109 | CHD7 | c.4175A>T (p.Asn1392Ile) c.1717-25227A>T (n.1717-25227A>T) c.2162A>T (p.Asn721Ile) c.1712A>T (p.Asn571Ile) c.920A>T (p.Asn307Ile) | |
| 8 | g.60837003T>A | CA371317111 | CHD7 | c.4176T>A (p.Asn1392Lys) c.1717-25226T>A (n.1717-25226T>A) c.2163T>A (p.Asn721Lys) c.1713T>A (p.Asn571Lys) c.921T>A (p.Asn307Lys) | |
| 8 | g.60837003T>C | CA460847043 | CHD7 | c.4176T>C (p.Asn1392=) c.1717-25226T>C (n.1717-25226T>C) c.2163T>C (p.Asn721=) c.1713T>C (p.Asn571=) c.921T>C (p.Asn307=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60837003T>G | CA371317114 | CHD7 | c.4176T>G (p.Asn1392Lys) c.1717-25226T>G (n.1717-25226T>G) c.2163T>G (p.Asn721Lys) c.1713T>G (p.Asn571Lys) c.921T>G (p.Asn307Lys) | |
| 8 | g.60837003T= | CA1788114142 | CHD7 | c.4176T= (p.Asn1392=) c.1717-25226T= (n.1717-25226T=) c.2163T= (p.Asn721=) c.1713T= (p.Asn571=) c.921T= (p.Asn307=) | |
| 8 | g.60837004G>A | CA371317117 | CHD7 | c.4177G>A (p.Asp1393Asn) c.1717-25225G>A (n.1717-25225G>A) c.2164G>A (p.Asp722Asn) c.1714G>A (p.Asp572Asn) c.922G>A (p.Asp308Asn) | |
| 8 | g.60837004G>C | CA371317118 | CHD7 | c.4177G>C (p.Asp1393His) c.1717-25225G>C (n.1717-25225G>C) c.2164G>C (p.Asp722His) c.1714G>C (p.Asp572His) c.922G>C (p.Asp308His) | |
| 8 | g.60837004G>T | CA371317119 | CHD7 | c.4177G>T (p.Asp1393Tyr) c.1717-25225G>T (n.1717-25225G>T) c.2164G>T (p.Asp722Tyr) c.1714G>T (p.Asp572Tyr) c.922G>T (p.Asp308Tyr) | |
| 8 | g.60837005A= | CA1788114149 | CHD7 | c.4178A= (p.Asp1393=) c.1717-25224A= (n.1717-25224A=) c.2165A= (p.Asp722=) c.1715A= (p.Asp572=) c.923A= (p.Asp308=) | |
| 8 | g.60837005A>C | CA371317122 | CHD7 | c.4178A>C (p.Asp1393Ala) c.1717-25224A>C (n.1717-25224A>C) c.2165A>C (p.Asp722Ala) c.1715A>C (p.Asp572Ala) c.923A>C (p.Asp308Ala) | gnomAD v4 |
| 8 | g.60837005A>G | CA371317121 | CHD7 | c.4178A>G (p.Asp1393Gly) c.1717-25224A>G (n.1717-25224A>G) c.2165A>G (p.Asp722Gly) c.1715A>G (p.Asp572Gly) c.923A>G (p.Asp308Gly) | |
| 8 | g.60837005A>T | CA371317120 | CHD7 | c.4178A>T (p.Asp1393Val) c.1717-25224A>T (n.1717-25224A>T) c.2165A>T (p.Asp722Val) c.1715A>T (p.Asp572Val) c.923A>T (p.Asp308Val) | dbSNP |
| 8 | g.60837006C>A | CA371317123 | CHD7 | c.4179C>A (p.Asp1393Glu) c.1717-25223C>A (n.1717-25223C>A) c.2166C>A (p.Asp722Glu) c.1716C>A (p.Asp572Glu) c.924C>A (p.Asp308Glu) | |
| 8 | g.60837006C= | CA1788114157 | CHD7 | c.4179C= (p.Asp1393=) c.1717-25223C= (n.1717-25223C=) c.2166C= (p.Asp722=) c.1716C= (p.Asp572=) c.924C= (p.Asp308=) | |
| 8 | g.60837006C>G | CA371317124 | CHD7 | c.4179C>G (p.Asp1393Glu) c.1717-25223C>G (n.1717-25223C>G) c.2166C>G (p.Asp722Glu) c.1716C>G (p.Asp572Glu) c.924C>G (p.Asp308Glu) | gnomAD v4 |
| 8 | g.60837006C>T | CA4760089 | CHD7 | c.4179C>T (p.Asp1393=) c.1717-25223C>T (n.1717-25223C>T) c.2166C>T (p.Asp722=) c.1716C>T (p.Asp572=) c.924C>T (p.Asp308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60837007C>A | CA371317128 | CHD7 | c.4180C>A (p.Leu1394Ile) c.1717-25222C>A (n.1717-25222C>A) c.2167C>A (p.Leu723Ile) c.1717C>A (p.Leu573Ile) c.925C>A (p.Leu309Ile) | |
| 8 | g.60837007C>G | CA371317129 | CHD7 | c.4180C>G (p.Leu1394Val) c.1717-25222C>G (n.1717-25222C>G) c.2167C>G (p.Leu723Val) c.1717C>G (p.Leu573Val) c.925C>G (p.Leu309Val) | |
| 8 | g.60837007C>T | CA371317130 | CHD7 | c.4180C>T (p.Leu1394Phe) c.1717-25222C>T (n.1717-25222C>T) c.2167C>T (p.Leu723Phe) c.1717C>T (p.Leu573Phe) c.925C>T (p.Leu309Phe) | |
| 8 | g.60837008T>A | CA371317133 | CHD7 | c.4181T>A (p.Leu1394His) c.1717-25221T>A (n.1717-25221T>A) c.2168T>A (p.Leu723His) c.1718T>A (p.Leu573His) c.926T>A (p.Leu309His) | |
| 8 | g.60837008T>C | CA371317135 | CHD7 | c.4181T>C (p.Leu1394Pro) c.1717-25221T>C (n.1717-25221T>C) c.2168T>C (p.Leu723Pro) c.1718T>C (p.Leu573Pro) c.926T>C (p.Leu309Pro) | |
| 8 | g.60837008T>G | CA371317137 | CHD7 | c.4181T>G (p.Leu1394Arg) c.1717-25221T>G (n.1717-25221T>G) c.2168T>G (p.Leu723Arg) c.1718T>G (p.Leu573Arg) c.926T>G (p.Leu309Arg) | |
| 8 | g.60837009C>A | CA460847044 | CHD7 | c.4182C>A (p.Leu1394=) c.1717-25220C>A (n.1717-25220C>A) c.2169C>A (p.Leu723=) c.1719C>A (p.Leu573=) c.927C>A (p.Leu309=) | |
| 8 | g.60837009C= | CA1788114168 | CHD7 | c.4182C= (p.Leu1394=) c.1717-25220C= (n.1717-25220C=) c.2169C= (p.Leu723=) c.1719C= (p.Leu573=) c.927C= (p.Leu309=) | |
| 8 | g.60837009C>G | CA177344176 | CHD7 | c.4182C>G (p.Leu1394=) c.1717-25220C>G (n.1717-25220C>G) c.2169C>G (p.Leu723=) c.1719C>G (p.Leu573=) c.927C>G (p.Leu309=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60837009C>T | CA460847045 | CHD7 | c.4182C>T (p.Leu1394=) c.1717-25220C>T (n.1717-25220C>T) c.2169C>T (p.Leu723=) c.1719C>T (p.Leu573=) c.927C>T (p.Leu309=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60837010del | CA2695209692 | CHD7 | c.4183del (p.Gln1395ArgfsTer9) c.1717-25219del (n.1717-25219del) c.2170del (p.Gln724ArgfsTer9) c.1720del (p.Gln574ArgfsTer9) c.928del (p.Gln310ArgfsTer9) | |
| 8 | g.60837010C>A | CA371317142 | CHD7 | c.4183C>A (p.Gln1395Lys) c.1717-25219C>A (n.1717-25219C>A) c.2170C>A (p.Gln724Lys) c.1720C>A (p.Gln574Lys) c.928C>A (p.Gln310Lys) | |
| 8 | g.60837010C>G | CA371317145 | CHD7 | c.4183C>G (p.Gln1395Glu) c.1717-25219C>G (n.1717-25219C>G) c.2170C>G (p.Gln724Glu) c.1720C>G (p.Gln574Glu) c.928C>G (p.Gln310Glu) | |
| 8 | g.60837010C>T | CA371317147 | CHD7 | c.4183C>T (p.Gln1395Ter) c.1717-25219C>T (n.1717-25219C>T) c.2170C>T (p.Gln724Ter) c.1720C>T (p.Gln574Ter) c.928C>T (p.Gln310Ter) | |
| 8 | g.60837011A>C | CA371317151 | CHD7 | c.4184A>C (p.Gln1395Pro) c.1717-25218A>C (n.1717-25218A>C) c.2171A>C (p.Gln724Pro) c.1721A>C (p.Gln574Pro) c.929A>C (p.Gln310Pro) | |
| 8 | g.60837011A>G | CA371317154 | CHD7 | c.4184A>G (p.Gln1395Arg) c.1717-25218A>G (n.1717-25218A>G) c.2171A>G (p.Gln724Arg) c.1721A>G (p.Gln574Arg) c.929A>G (p.Gln310Arg) | |
| 8 | g.60837011A>T | CA371317149 | CHD7 | c.4184A>T (p.Gln1395Leu) c.1717-25218A>T (n.1717-25218A>T) c.2171A>T (p.Gln724Leu) c.1721A>T (p.Gln574Leu) c.929A>T (p.Gln310Leu) | |
| 8 | g.60837012G>A | CA460847046 | CHD7 | c.4185G>A (p.Gln1395=) c.1717-25217G>A (n.1717-25217G>A) c.2172G>A (p.Gln724=) c.1722G>A (p.Gln574=) c.930G>A (p.Gln310=) | |
| 8 | g.60837012G>C | CA371317158 | CHD7 | c.4185G>C (p.Gln1395His) c.1717-25217G>C (n.1717-25217G>C) c.2172G>C (p.Gln724His) c.1722G>C (p.Gln574His) c.930G>C (p.Gln310His) | |
| 8 | g.60837012G>T | CA371317156 | CHD7 | c.4185G>T (p.Gln1395His) c.1717-25217G>T (n.1717-25217G>T) c.2172G>T (p.Gln724His) c.1722G>T (p.Gln574His) c.930G>T (p.Gln310His) | |
| 8 | g.60837013G>A | CA371317161 | CHD7 | c.4185+1G>A (n.4185+1G>A) c.1717-25216G>A (n.1717-25216G>A) c.2172+1G>A (n.2172+1G>A) c.1722+1G>A (n.1722+1G>A) c.930+1G>A (n.930+1G>A) | ClinVar dbSNP |
| 8 | g.60837013G>C | CA371317164 | CHD7 | c.4185+1G>C (n.4185+1G>C) c.1717-25216G>C (n.1717-25216G>C) c.2172+1G>C (n.2172+1G>C) c.1722+1G>C (n.1722+1G>C) c.930+1G>C (n.930+1G>C) | |
| 8 | g.60837013G= | CA1788114179 | CHD7 | c.4185+1G= (n.4185+1G=) c.1717-25216G= (n.1717-25216G=) c.2172+1G= (n.2172+1G=) c.1722+1G= (n.1722+1G=) c.930+1G= (n.930+1G=) | |
| 8 | g.60837013G>T | CA371317166 | CHD7 | c.4185+1G>T (n.4185+1G>T) c.1717-25216G>T (n.1717-25216G>T) c.2172+1G>T (n.2172+1G>T) c.1722+1G>T (n.1722+1G>T) c.930+1G>T (n.930+1G>T) | |
| 8 | g.60837014T>A | CA371317169 | CHD7 | c.4185+2T>A (n.4185+2T>A) c.1717-25215T>A (n.1717-25215T>A) c.2172+2T>A (n.2172+2T>A) c.1722+2T>A (n.1722+2T>A) c.930+2T>A (n.930+2T>A) | |
| 8 | g.60837014T>C | CA371317173 | CHD7 | c.4185+2T>C (n.4185+2T>C) c.1717-25215T>C (n.1717-25215T>C) c.2172+2T>C (n.2172+2T>C) c.1722+2T>C (n.1722+2T>C) c.930+2T>C (n.930+2T>C) | |
| 8 | g.60837014T>G | CA371317174 | CHD7 | c.4185+2T>G (n.4185+2T>G) c.1717-25215T>G (n.1717-25215T>G) c.2172+2T>G (n.2172+2T>G) c.1722+2T>G (n.1722+2T>G) c.930+2T>G (n.930+2T>G) | |
| 8 | g.60837014_60837015delinsTA | CA1788114191 | CHD7 | c.4185+2_4185+3delinsTA (n.4185+2_4185+3delinsTA) c.1717-25215_1717-25214delinsTA (n.1717-25215_1717-25214delinsTA) c.2172+2_2172+3delinsTA (n.2172+2_2172+3delinsTA) c.1722+2_1722+3delinsTA (n.1722+2_1722+3delinsTA) c.930+2_930+3delinsTA (n.930+2_930+3delinsTA) | |
| 8 | g.60837014_60837027delinsTAAATGCACAAGAA | CA1788114192 | CHD7 | c.4185+2_4185+15delinsTAAATGCACAAGAA (n.4185+2_4185+15delinsTAAATGCACAAGAA) c.1717-25215_1717-25202delinsTAAATGCACAAGAA (n.1717-25215_1717-25202delinsTAAATGCACAAGAA) c.2172+2_2172+15delinsTAAATGCACAAGAA (n.2172+2_2172+15delinsTAAATGCACAAGAA) c.1722+2_1722+15delinsTAAATGCACAAGAA (n.1722+2_1722+15delinsTAAATGCACAAGAA) c.930+2_930+15delinsTAAATGCACAAGAA (n.930+2_930+15delinsTAAATGCACAAGAA) | |
| 8 | g.60837017del | CA582403514 | CHD7 | c.4185+5del (n.4185+5del) c.1717-25212del (n.1717-25212del) c.2172+5del (n.2172+5del) c.1722+5del (n.1722+5del) c.930+5del (n.930+5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60837016_60837028del | CA1114427909 | CHD7 | c.4185+4_4185+16del (n.4185+4_4185+16del) c.1717-25213_1717-25201del (n.1717-25213_1717-25201del) c.2172+4_2172+16del (n.2172+4_2172+16del) c.1722+4_1722+16del (n.1722+4_1722+16del) c.930+4_930+16del (n.930+4_930+16del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60837016A= | CA1788114205 | CHD7 | c.4185+4A= (n.4185+4A=) c.1717-25213A= (n.1717-25213A=) c.2172+4A= (n.2172+4A=) c.1722+4A= (n.1722+4A=) c.930+4A= (n.930+4A=) | |
| 8 | g.60837016A>C | CA1788114208 | CHD7 | c.4185+4A>C (n.4185+4A>C) c.1717-25213A>C (n.1717-25213A>C) c.2172+4A>C (n.2172+4A>C) c.1722+4A>C (n.1722+4A>C) c.930+4A>C (n.930+4A>C) | dbSNP |
| 8 | g.60837018T>C | CA853899785 | CHD7 | c.4185+6T>C (n.4185+6T>C) c.1717-25211T>C (n.1717-25211T>C) c.2172+6T>C (n.2172+6T>C) c.1722+6T>C (n.1722+6T>C) c.930+6T>C (n.930+6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60837018T>G | CA2687397349 | CHD7 | c.4185+6T>G (n.4185+6T>G) c.1717-25211T>G (n.1717-25211T>G) c.2172+6T>G (n.2172+6T>G) c.1722+6T>G (n.1722+6T>G) c.930+6T>G (n.930+6T>G) | gnomAD v4 |
| 8 | g.60837018T= | CA1788114225 | CHD7 | c.4185+6T= (n.4185+6T=) c.1717-25211T= (n.1717-25211T=) c.2172+6T= (n.2172+6T=) c.1722+6T= (n.1722+6T=) c.930+6T= (n.930+6T=) | |
| 8 | g.60837019G>A | CA853899791 | CHD7 | c.4185+7G>A (n.4185+7G>A) c.1717-25210G>A (n.1717-25210G>A) c.2172+7G>A (n.2172+7G>A) c.1722+7G>A (n.1722+7G>A) c.930+7G>A (n.930+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60837019G= | CA1788114228 | CHD7 | c.4185+7G= (n.4185+7G=) c.1717-25210G= (n.1717-25210G=) c.2172+7G= (n.2172+7G=) c.1722+7G= (n.1722+7G=) c.930+7G= (n.930+7G=) | |
| 8 | g.60837019G>T | CA2687397350 | CHD7 | c.4185+7G>T (n.4185+7G>T) c.1717-25210G>T (n.1717-25210G>T) c.2172+7G>T (n.2172+7G>T) c.1722+7G>T (n.1722+7G>T) c.930+7G>T (n.930+7G>T) | gnomAD v4 |
| 8 | g.60837020C= | CA1788114230 | CHD7 | c.4185+8C= (n.4185+8C=) c.1717-25209C= (n.1717-25209C=) c.2172+8C= (n.2172+8C=) c.1722+8C= (n.1722+8C=) c.930+8C= (n.930+8C=) | |
| 8 | g.60837020C>G | CA582403515 | CHD7 | c.4185+8C>G (n.4185+8C>G) c.1717-25209C>G (n.1717-25209C>G) c.2172+8C>G (n.2172+8C>G) c.1722+8C>G (n.1722+8C>G) c.930+8C>G (n.930+8C>G) | dbSNP gnomAD v2 gnomAD v4 |