| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852947G>A | CA461105117 | CHD7 | c.6222G>A (p.Leu2074=) c.1717-9282G>A (n.1717-9282G>A) c.6312G>A (p.Leu2104=) c.4299G>A (p.Leu1433=) c.3849G>A (p.Leu1283=) c.3057G>A (p.Leu1019=) | |
| 8 | g.60852947G>C | CA461105118 | CHD7 | c.6222G>C (p.Leu2074=) c.1717-9282G>C (n.1717-9282G>C) c.6312G>C (p.Leu2104=) c.4299G>C (p.Leu1433=) c.3849G>C (p.Leu1283=) c.3057G>C (p.Leu1019=) | |
| 8 | g.60852947G>T | CA461105119 | CHD7 | c.6222G>T (p.Leu2074=) c.1717-9282G>T (n.1717-9282G>T) c.6312G>T (p.Leu2104=) c.4299G>T (p.Leu1433=) c.3849G>T (p.Leu1283=) c.3057G>T (p.Leu1019=) | |
| 8 | g.60852949del | CA2695209412 | CHD7 | c.6224del (p.Gly2075GlufsTer?) c.1717-9280del (n.1717-9280del) c.6314del (p.Gly2105GlufsTer?) c.4301del (p.Gly1434GlufsTer?) c.3851del (p.Gly1284GlufsTer?) c.3059del (p.Gly1020GlufsTer?) | |
| 8 | g.60852948G>A | CA371324474 | CHD7 | c.6223G>A (p.Gly2075Arg) c.1717-9281G>A (n.1717-9281G>A) c.6313G>A (p.Gly2105Arg) c.4300G>A (p.Gly1434Arg) c.3850G>A (p.Gly1284Arg) c.3058G>A (p.Gly1020Arg) | |
| 8 | g.60852948G>C | CA371324475 | CHD7 | c.6223G>C (p.Gly2075Arg) c.1717-9281G>C (n.1717-9281G>C) c.6313G>C (p.Gly2105Arg) c.4300G>C (p.Gly1434Arg) c.3850G>C (p.Gly1284Arg) c.3058G>C (p.Gly1020Arg) | |
| 8 | g.60852948G>T | CA371324476 | CHD7 | c.6223G>T (p.Gly2075Ter) c.1717-9281G>T (n.1717-9281G>T) c.6313G>T (p.Gly2105Ter) c.4300G>T (p.Gly1434Ter) c.3850G>T (p.Gly1284Ter) c.3058G>T (p.Gly1020Ter) | |
| 8 | g.60852949G>A | CA371324479 | CHD7 | c.6224G>A (p.Gly2075Glu) c.1717-9280G>A (n.1717-9280G>A) c.6314G>A (p.Gly2105Glu) c.4301G>A (p.Gly1434Glu) c.3851G>A (p.Gly1284Glu) c.3059G>A (p.Gly1020Glu) | gnomAD v4 |
| 8 | g.60852949G>C | CA371324477 | CHD7 | c.6224G>C (p.Gly2075Ala) c.1717-9280G>C (n.1717-9280G>C) c.6314G>C (p.Gly2105Ala) c.4301G>C (p.Gly1434Ala) c.3851G>C (p.Gly1284Ala) c.3059G>C (p.Gly1020Ala) | |
| 8 | g.60852949G>T | CA371324478 | CHD7 | c.6224G>T (p.Gly2075Val) c.1717-9280G>T (n.1717-9280G>T) c.6314G>T (p.Gly2105Val) c.4301G>T (p.Gly1434Val) c.3851G>T (p.Gly1284Val) c.3059G>T (p.Gly1020Val) | |
| 8 | g.60852950A= | CA1788102994 | CHD7 | c.6225A= (p.Gly2075=) c.1717-9279A= (n.1717-9279A=) c.6315A= (p.Gly2105=) c.4302A= (p.Gly1434=) c.3852A= (p.Gly1284=) c.3060A= (p.Gly1020=) | |
| 8 | g.60852950A>C | CA461105120 | CHD7 | c.6225A>C (p.Gly2075=) c.1717-9279A>C (n.1717-9279A>C) c.6315A>C (p.Gly2105=) c.4302A>C (p.Gly1434=) c.3852A>C (p.Gly1284=) c.3060A>C (p.Gly1020=) | |
| 8 | g.60852950A>G | CA10587010 | CHD7 | c.6225A>G (p.Gly2075=) c.1717-9279A>G (n.1717-9279A>G) c.6315A>G (p.Gly2105=) c.4302A>G (p.Gly1434=) c.3852A>G (p.Gly1284=) c.3060A>G (p.Gly1020=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852950A>T | CA461105121 | CHD7 | c.6225A>T (p.Gly2075=) c.1717-9279A>T (n.1717-9279A>T) c.6315A>T (p.Gly2105=) c.4302A>T (p.Gly1434=) c.3852A>T (p.Gly1284=) c.3060A>T (p.Gly1020=) | |
| 8 | g.60852951G>A | CA177354050 | CHD7 | c.6226G>A (p.Glu2076Lys) c.1717-9278G>A (n.1717-9278G>A) c.6316G>A (p.Glu2106Lys) c.4303G>A (p.Glu1435Lys) c.3853G>A (p.Glu1285Lys) c.3061G>A (p.Glu1021Lys) | dbSNP |
| 8 | g.60852951G>C | CA371324480 | CHD7 | c.6226G>C (p.Glu2076Gln) c.1717-9278G>C (n.1717-9278G>C) c.6316G>C (p.Glu2106Gln) c.4303G>C (p.Glu1435Gln) c.3853G>C (p.Glu1285Gln) c.3061G>C (p.Glu1021Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852951G= | CA1788103004 | CHD7 | c.6226G= (p.Glu2076=) c.1717-9278G= (n.1717-9278G=) c.6316G= (p.Glu2106=) c.4303G= (p.Glu1435=) c.3853G= (p.Glu1285=) c.3061G= (p.Glu1021=) | |
| 8 | g.60852951G>T | CA371324481 | CHD7 | c.6226G>T (p.Glu2076Ter) c.1717-9278G>T (n.1717-9278G>T) c.6316G>T (p.Glu2106Ter) c.4303G>T (p.Glu1435Ter) c.3853G>T (p.Glu1285Ter) c.3061G>T (p.Glu1021Ter) | |
| 8 | g.60852952A>C | CA371324482 | CHD7 | c.6227A>C (p.Glu2076Ala) c.1717-9277A>C (n.1717-9277A>C) c.6317A>C (p.Glu2106Ala) c.4304A>C (p.Glu1435Ala) c.3854A>C (p.Glu1285Ala) c.3062A>C (p.Glu1021Ala) | |
| 8 | g.60852952A>G | CA371324483 | CHD7 | c.6227A>G (p.Glu2076Gly) c.1717-9277A>G (n.1717-9277A>G) c.6317A>G (p.Glu2106Gly) c.4304A>G (p.Glu1435Gly) c.3854A>G (p.Glu1285Gly) c.3062A>G (p.Glu1021Gly) | |
| 8 | g.60852952A>T | CA371324484 | CHD7 | c.6227A>T (p.Glu2076Val) c.1717-9277A>T (n.1717-9277A>T) c.6317A>T (p.Glu2106Val) c.4304A>T (p.Glu1435Val) c.3854A>T (p.Glu1285Val) c.3062A>T (p.Glu1021Val) | |
| 8 | g.60852953del | CA2695209413 | CHD7 | c.6228del (p.Arg2077GlyfsTer?) c.1717-9276del (n.1717-9276del) c.6318del (p.Arg2107GlyfsTer?) c.4305del (p.Arg1436GlyfsTer?) c.3855del (p.Arg1286GlyfsTer?) c.3063del (p.Arg1022GlyfsTer?) | |
| 8 | g.60852953G>A | CA461105123 | CHD7 | c.6228G>A (p.Glu2076=) c.1717-9276G>A (n.1717-9276G>A) c.6318G>A (p.Glu2106=) c.4305G>A (p.Glu1435=) c.3855G>A (p.Glu1285=) c.3063G>A (p.Glu1021=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852953G>C | CA371324485 | CHD7 | c.6228G>C (p.Glu2076Asp) c.1717-9276G>C (n.1717-9276G>C) c.6318G>C (p.Glu2106Asp) c.4305G>C (p.Glu1435Asp) c.3855G>C (p.Glu1285Asp) c.3063G>C (p.Glu1021Asp) | |
| 8 | g.60852953G= | CA1788103025 | CHD7 | c.6228G= (p.Glu2076=) c.1717-9276G= (n.1717-9276G=) c.6318G= (p.Glu2106=) c.4305G= (p.Glu1435=) c.3855G= (p.Glu1285=) c.3063G= (p.Glu1021=) | |
| 8 | g.60852953G>T | CA371324486 | CHD7 | c.6228G>T (p.Glu2076Asp) c.1717-9276G>T (n.1717-9276G>T) c.6318G>T (p.Glu2106Asp) c.4305G>T (p.Glu1435Asp) c.3855G>T (p.Glu1285Asp) c.3063G>T (p.Glu1021Asp) | |
| 8 | g.60852954A>C | CA461105124 | CHD7 | c.6229A>C (p.Arg2077=) c.1717-9275A>C (n.1717-9275A>C) c.6319A>C (p.Arg2107=) c.4306A>C (p.Arg1436=) c.3856A>C (p.Arg1286=) c.3064A>C (p.Arg1022=) | |
| 8 | g.60852954A>G | CA371324487 | CHD7 | c.6229A>G (p.Arg2077Gly) c.1717-9275A>G (n.1717-9275A>G) c.6319A>G (p.Arg2107Gly) c.4306A>G (p.Arg1436Gly) c.3856A>G (p.Arg1286Gly) c.3064A>G (p.Arg1022Gly) | |
| 8 | g.60852954A>T | CA371324488 | CHD7 | c.6229A>T (p.Arg2077Trp) c.1717-9275A>T (n.1717-9275A>T) c.6319A>T (p.Arg2107Trp) c.4306A>T (p.Arg1436Trp) c.3856A>T (p.Arg1286Trp) c.3064A>T (p.Arg1022Trp) | |
| 8 | g.60852955G>A | CA371324490 | CHD7 | c.6230G>A (p.Arg2077Lys) c.1717-9274G>A (n.1717-9274G>A) c.6320G>A (p.Arg2107Lys) c.4307G>A (p.Arg1436Lys) c.3857G>A (p.Arg1286Lys) c.3065G>A (p.Arg1022Lys) | |
| 8 | g.60852955G>C | CA371324491 | CHD7 | c.6230G>C (p.Arg2077Thr) c.1717-9274G>C (n.1717-9274G>C) c.6320G>C (p.Arg2107Thr) c.4307G>C (p.Arg1436Thr) c.3857G>C (p.Arg1286Thr) c.3065G>C (p.Arg1022Thr) | |
| 8 | g.60852955G>T | CA371324489 | CHD7 | c.6230G>T (p.Arg2077Met) c.1717-9274G>T (n.1717-9274G>T) c.6320G>T (p.Arg2107Met) c.4307G>T (p.Arg1436Met) c.3857G>T (p.Arg1286Met) c.3065G>T (p.Arg1022Met) | |
| 8 | g.60852956G>A | CA461105126 | CHD7 | c.6231G>A (p.Arg2077=) c.1717-9273G>A (n.1717-9273G>A) c.6321G>A (p.Arg2107=) c.4308G>A (p.Arg1436=) c.3858G>A (p.Arg1286=) c.3066G>A (p.Arg1022=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852956G>C | CA371324492 | CHD7 | c.6231G>C (p.Arg2077Ser) c.1717-9273G>C (n.1717-9273G>C) c.6321G>C (p.Arg2107Ser) c.4308G>C (p.Arg1436Ser) c.3858G>C (p.Arg1286Ser) c.3066G>C (p.Arg1022Ser) | |
| 8 | g.60852956G= | CA1788103033 | CHD7 | c.6231G= (p.Arg2077=) c.1717-9273G= (n.1717-9273G=) c.6321G= (p.Arg2107=) c.4308G= (p.Arg1436=) c.3858G= (p.Arg1286=) c.3066G= (p.Arg1022=) | |
| 8 | g.60852956G>T | CA371324493 | CHD7 | c.6231G>T (p.Arg2077Ser) c.1717-9273G>T (n.1717-9273G>T) c.6321G>T (p.Arg2107Ser) c.4308G>T (p.Arg1436Ser) c.3858G>T (p.Arg1286Ser) c.3066G>T (p.Arg1022Ser) | |
| 8 | g.60852957C>A | CA371324494 | CHD7 | c.6232C>A (p.Leu2078Ile) c.1717-9272C>A (n.1717-9272C>A) c.6322C>A (p.Leu2108Ile) c.4309C>A (p.Leu1437Ile) c.3859C>A (p.Leu1287Ile) c.3067C>A (p.Leu1023Ile) | |
| 8 | g.60852957C>G | CA371324495 | CHD7 | c.6232C>G (p.Leu2078Val) c.1717-9272C>G (n.1717-9272C>G) c.6322C>G (p.Leu2108Val) c.4309C>G (p.Leu1437Val) c.3859C>G (p.Leu1287Val) c.3067C>G (p.Leu1023Val) | |
| 8 | g.60852957C>T | CA371324496 | CHD7 | c.6232C>T (p.Leu2078Phe) c.1717-9272C>T (n.1717-9272C>T) c.6322C>T (p.Leu2108Phe) c.4309C>T (p.Leu1437Phe) c.3859C>T (p.Leu1287Phe) c.3067C>T (p.Leu1023Phe) | |
| 8 | g.60852958T>A | CA371324499 | CHD7 | c.6233T>A (p.Leu2078His) c.1717-9271T>A (n.1717-9271T>A) c.6323T>A (p.Leu2108His) c.4310T>A (p.Leu1437His) c.3860T>A (p.Leu1287His) c.3068T>A (p.Leu1023His) | |
| 8 | g.60852958T>C | CA371324498 | CHD7 | c.6233T>C (p.Leu2078Pro) c.1717-9271T>C (n.1717-9271T>C) c.6323T>C (p.Leu2108Pro) c.4310T>C (p.Leu1437Pro) c.3860T>C (p.Leu1287Pro) c.3068T>C (p.Leu1023Pro) | |
| 8 | g.60852958T>G | CA371324497 | CHD7 | c.6233T>G (p.Leu2078Arg) c.1717-9271T>G (n.1717-9271T>G) c.6323T>G (p.Leu2108Arg) c.4310T>G (p.Leu1437Arg) c.3860T>G (p.Leu1287Arg) c.3068T>G (p.Leu1023Arg) | |
| 8 | g.60852959T>A | CA461105129 | CHD7 | c.6234T>A (p.Leu2078=) c.1717-9270T>A (n.1717-9270T>A) c.6324T>A (p.Leu2108=) c.4311T>A (p.Leu1437=) c.3861T>A (p.Leu1287=) c.3069T>A (p.Leu1023=) | |
| 8 | g.60852959T>C | CA461105127 | CHD7 | c.6234T>C (p.Leu2078=) c.1717-9270T>C (n.1717-9270T>C) c.6324T>C (p.Leu2108=) c.4311T>C (p.Leu1437=) c.3861T>C (p.Leu1287=) c.3069T>C (p.Leu1023=) | |
| 8 | g.60852959T>G | CA461105128 | CHD7 | c.6234T>G (p.Leu2078=) c.1717-9270T>G (n.1717-9270T>G) c.6324T>G (p.Leu2108=) c.4311T>G (p.Leu1437=) c.3861T>G (p.Leu1287=) c.3069T>G (p.Leu1023=) | |
| 8 | g.60852960A>C | CA371324500 | CHD7 | c.6235A>C (p.Lys2079Gln) c.1717-9269A>C (n.1717-9269A>C) c.6325A>C (p.Lys2109Gln) c.4312A>C (p.Lys1438Gln) c.3862A>C (p.Lys1288Gln) c.3070A>C (p.Lys1024Gln) | |
| 8 | g.60852960A>G | CA371324501 | CHD7 | c.6235A>G (p.Lys2079Glu) c.1717-9269A>G (n.1717-9269A>G) c.6325A>G (p.Lys2109Glu) c.4312A>G (p.Lys1438Glu) c.3862A>G (p.Lys1288Glu) c.3070A>G (p.Lys1024Glu) | gnomAD v4 |
| 8 | g.60852960A>T | CA371324502 | CHD7 | c.6235A>T (p.Lys2079Ter) c.1717-9269A>T (n.1717-9269A>T) c.6325A>T (p.Lys2109Ter) c.4312A>T (p.Lys1438Ter) c.3862A>T (p.Lys1288Ter) c.3070A>T (p.Lys1024Ter) | |
| 8 | g.60852961del | CA2580078852 | CHD7 | c.6236del (p.Lys2079SerfsTer?) c.1717-9268del (n.1717-9268del) c.6326del (p.Lys2109SerfsTer?) c.4313del (p.Lys1438SerfsTer?) c.3863del (p.Lys1288SerfsTer?) c.3071del (p.Lys1024SerfsTer?) | ClinVar |
| 8 | g.60852961A= | CA1788103040 | CHD7 | c.6236A= (p.Lys2079=) c.1717-9268A= (n.1717-9268A=) c.6326A= (p.Lys2109=) c.4313A= (p.Lys1438=) c.3863A= (p.Lys1288=) c.3071A= (p.Lys1024=) |