| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60852860_60852878dup | CA2695209407 | CHD7 | c.6135_6153dup (p.Ser2052AspfsTer14) c.1717-9369_1717-9351dup (n.1717-9369_1717-9351dup) c.6225_6243dup (p.Ser2082AspfsTer14) c.4212_4230dup (p.Ser1411AspfsTer14) c.3762_3780dup (p.Ser1261AspfsTer14) c.2970_2988dup (p.Ser997AspfsTer14) | |
| 8 | g.60852864A= | CA1788102491 | CHD7 | c.6139A= (p.Thr2047=) c.1717-9365A= (n.1717-9365A=) c.6229A= (p.Thr2077=) c.4216A= (p.Thr1406=) c.3766A= (p.Thr1256=) c.2974A= (p.Thr992=) | |
| 8 | g.60852864A>C | CA371324305 | CHD7 | c.6139A>C (p.Thr2047Pro) c.1717-9365A>C (n.1717-9365A>C) c.6229A>C (p.Thr2077Pro) c.4216A>C (p.Thr1406Pro) c.3766A>C (p.Thr1256Pro) c.2974A>C (p.Thr992Pro) | |
| 8 | g.60852864A>G | CA371324306 | CHD7 | c.6139A>G (p.Thr2047Ala) c.1717-9365A>G (n.1717-9365A>G) c.6229A>G (p.Thr2077Ala) c.4216A>G (p.Thr1406Ala) c.3766A>G (p.Thr1256Ala) c.2974A>G (p.Thr992Ala) | |
| 8 | g.60852864A>T | CA4760541 | CHD7 | c.6139A>T (p.Thr2047Ser) c.1717-9365A>T (n.1717-9365A>T) c.6229A>T (p.Thr2077Ser) c.4216A>T (p.Thr1406Ser) c.3766A>T (p.Thr1256Ser) c.2974A>T (p.Thr992Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852865C>A | CA371324309 | CHD7 | c.6140C>A (p.Thr2047Lys) c.1717-9364C>A (n.1717-9364C>A) c.6230C>A (p.Thr2077Lys) c.4217C>A (p.Thr1406Lys) c.3767C>A (p.Thr1256Lys) c.2975C>A (p.Thr992Lys) | |
| 8 | g.60852865C>G | CA371324307 | CHD7 | c.6140C>G (p.Thr2047Arg) c.1717-9364C>G (n.1717-9364C>G) c.6230C>G (p.Thr2077Arg) c.4217C>G (p.Thr1406Arg) c.3767C>G (p.Thr1256Arg) c.2975C>G (p.Thr992Arg) | gnomAD v4 |
| 8 | g.60852865C>T | CA371324308 | CHD7 | c.6140C>T (p.Thr2047Ile) c.1717-9364C>T (n.1717-9364C>T) c.6230C>T (p.Thr2077Ile) c.4217C>T (p.Thr1406Ile) c.3767C>T (p.Thr1256Ile) c.2975C>T (p.Thr992Ile) | |
| 8 | g.60852865_60852867delinsCAG | CA1788102498 | CHD7 | c.6140_6142delinsCAG (p.Thr2047=) c.1717-9364_1717-9362delinsCAG (n.1717-9364_1717-9362delinsCAG) c.6230_6232delinsCAG (p.Thr2077=) c.4217_4219delinsCAG (p.Thr1406=) c.3767_3769delinsCAG (p.Thr1256=) c.2975_2977delinsCAG (p.Thr992=) | |
| 8 | g.60852866A>C | CA461104922 | CHD7 | c.6141A>C (p.Thr2047=) c.1717-9363A>C (n.1717-9363A>C) c.6231A>C (p.Thr2077=) c.4218A>C (p.Thr1406=) c.3768A>C (p.Thr1256=) c.2976A>C (p.Thr992=) | |
| 8 | g.60852866A>G | CA461104921 | CHD7 | c.6141A>G (p.Thr2047=) c.1717-9363A>G (n.1717-9363A>G) c.6231A>G (p.Thr2077=) c.4218A>G (p.Thr1406=) c.3768A>G (p.Thr1256=) c.2976A>G (p.Thr992=) | gnomAD v4 |
| 8 | g.60852866A>T | CA461104920 | CHD7 | c.6141A>T (p.Thr2047=) c.1717-9363A>T (n.1717-9363A>T) c.6231A>T (p.Thr2077=) c.4218A>T (p.Thr1406=) c.3768A>T (p.Thr1256=) c.2976A>T (p.Thr992=) | |
| 8 | g.60852868_60852869del | CA658797100 | CHD7 | c.6143_6144del (p.Glu2048GlyfsTer11) c.1717-9361_1717-9360del (n.1717-9361_1717-9360del) c.6233_6234del (p.Glu2078GlyfsTer11) c.4220_4221del (p.Glu1407GlyfsTer11) c.3770_3771del (p.Glu1257GlyfsTer11) c.2978_2979del (p.Glu993GlyfsTer11) | ClinVar dbSNP |
| 8 | g.60852867G>A | CA371324310 | CHD7 | c.6142G>A (p.Glu2048Lys) c.1717-9362G>A (n.1717-9362G>A) c.6232G>A (p.Glu2078Lys) c.4219G>A (p.Glu1407Lys) c.3769G>A (p.Glu1257Lys) c.2977G>A (p.Glu993Lys) | |
| 8 | g.60852867G>C | CA371324311 | CHD7 | c.6142G>C (p.Glu2048Gln) c.1717-9362G>C (n.1717-9362G>C) c.6232G>C (p.Glu2078Gln) c.4219G>C (p.Glu1407Gln) c.3769G>C (p.Glu1257Gln) c.2977G>C (p.Glu993Gln) | |
| 8 | g.60852867G>T | CA371324312 | CHD7 | c.6142G>T (p.Glu2048Ter) c.1717-9362G>T (n.1717-9362G>T) c.6232G>T (p.Glu2078Ter) c.4219G>T (p.Glu1407Ter) c.3769G>T (p.Glu1257Ter) c.2977G>T (p.Glu993Ter) | |
| 8 | g.60852868A>C | CA371324313 | CHD7 | c.6143A>C (p.Glu2048Ala) c.1717-9361A>C (n.1717-9361A>C) c.6233A>C (p.Glu2078Ala) c.4220A>C (p.Glu1407Ala) c.3770A>C (p.Glu1257Ala) c.2978A>C (p.Glu993Ala) | |
| 8 | g.60852868A>G | CA371324314 | CHD7 | c.6143A>G (p.Glu2048Gly) c.1717-9361A>G (n.1717-9361A>G) c.6233A>G (p.Glu2078Gly) c.4220A>G (p.Glu1407Gly) c.3770A>G (p.Glu1257Gly) c.2978A>G (p.Glu993Gly) | |
| 8 | g.60852868A>T | CA371324315 | CHD7 | c.6143A>T (p.Glu2048Val) c.1717-9361A>T (n.1717-9361A>T) c.6233A>T (p.Glu2078Val) c.4220A>T (p.Glu1407Val) c.3770A>T (p.Glu1257Val) c.2978A>T (p.Glu993Val) | |
| 8 | g.60852869G>A | CA461104924 | CHD7 | c.6144G>A (p.Glu2048=) c.1717-9360G>A (n.1717-9360G>A) c.6234G>A (p.Glu2078=) c.4221G>A (p.Glu1407=) c.3771G>A (p.Glu1257=) c.2979G>A (p.Glu993=) | |
| 8 | g.60852869G>C | CA371324316 | CHD7 | c.6144G>C (p.Glu2048Asp) c.1717-9360G>C (n.1717-9360G>C) c.6234G>C (p.Glu2078Asp) c.4221G>C (p.Glu1407Asp) c.3771G>C (p.Glu1257Asp) c.2979G>C (p.Glu993Asp) | |
| 8 | g.60852869G>T | CA371324317 | CHD7 | c.6144G>T (p.Glu2048Asp) c.1717-9360G>T (n.1717-9360G>T) c.6234G>T (p.Glu2078Asp) c.4221G>T (p.Glu1407Asp) c.3771G>T (p.Glu1257Asp) c.2979G>T (p.Glu993Asp) | |
| 8 | g.60852870G>A | CA371324318 | CHD7 | c.6145G>A (p.Glu2049Lys) c.1717-9359G>A (n.1717-9359G>A) c.6235G>A (p.Glu2079Lys) c.4222G>A (p.Glu1408Lys) c.3772G>A (p.Glu1258Lys) c.2980G>A (p.Glu994Lys) | |
| 8 | g.60852870G>C | CA371324319 | CHD7 | c.6145G>C (p.Glu2049Gln) c.1717-9359G>C (n.1717-9359G>C) c.6235G>C (p.Glu2079Gln) c.4222G>C (p.Glu1408Gln) c.3772G>C (p.Glu1258Gln) c.2980G>C (p.Glu994Gln) | |
| 8 | g.60852870G>T | CA371324320 | CHD7 | c.6145G>T (p.Glu2049Ter) c.1717-9359G>T (n.1717-9359G>T) c.6235G>T (p.Glu2079Ter) c.4222G>T (p.Glu1408Ter) c.3772G>T (p.Glu1258Ter) c.2980G>T (p.Glu994Ter) | |
| 8 | g.60852871A>C | CA371324323 | CHD7 | c.6146A>C (p.Glu2049Ala) c.1717-9358A>C (n.1717-9358A>C) c.6236A>C (p.Glu2079Ala) c.4223A>C (p.Glu1408Ala) c.3773A>C (p.Glu1258Ala) c.2981A>C (p.Glu994Ala) | |
| 8 | g.60852871A>G | CA371324322 | CHD7 | c.6146A>G (p.Glu2049Gly) c.1717-9358A>G (n.1717-9358A>G) c.6236A>G (p.Glu2079Gly) c.4223A>G (p.Glu1408Gly) c.3773A>G (p.Glu1258Gly) c.2981A>G (p.Glu994Gly) | |
| 8 | g.60852871A>T | CA371324321 | CHD7 | c.6146A>T (p.Glu2049Val) c.1717-9358A>T (n.1717-9358A>T) c.6236A>T (p.Glu2079Val) c.4223A>T (p.Glu1408Val) c.3773A>T (p.Glu1258Val) c.2981A>T (p.Glu994Val) | |
| 8 | g.60852872G>A | CA461104925 | CHD7 | c.6147G>A (p.Glu2049=) c.1717-9357G>A (n.1717-9357G>A) c.6237G>A (p.Glu2079=) c.4224G>A (p.Glu1408=) c.3774G>A (p.Glu1258=) c.2982G>A (p.Glu994=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852872G>C | CA371324324 | CHD7 | c.6147G>C (p.Glu2049Asp) c.1717-9357G>C (n.1717-9357G>C) c.6237G>C (p.Glu2079Asp) c.4224G>C (p.Glu1408Asp) c.3774G>C (p.Glu1258Asp) c.2982G>C (p.Glu994Asp) | |
| 8 | g.60852872G>T | CA371324325 | CHD7 | c.6147G>T (p.Glu2049Asp) c.1717-9357G>T (n.1717-9357G>T) c.6237G>T (p.Glu2079Asp) c.4224G>T (p.Glu1408Asp) c.3774G>T (p.Glu1258Asp) c.2982G>T (p.Glu994Asp) | |
| 8 | g.60852873C>A | CA461104927 | CHD7 | c.6148C>A (p.Arg2050=) c.1717-9356C>A (n.1717-9356C>A) c.6238C>A (p.Arg2080=) c.4225C>A (p.Arg1409=) c.3775C>A (p.Arg1259=) c.2983C>A (p.Arg995=) | gnomAD v4 |
| 8 | g.60852873C= | CA1788102512 | CHD7 | c.6148C= (p.Arg2050=) c.1717-9356C= (n.1717-9356C=) c.6238C= (p.Arg2080=) c.4225C= (p.Arg1409=) c.3775C= (p.Arg1259=) c.2983C= (p.Arg995=) | |
| 8 | g.60852873C>G | CA371324326 | CHD7 | c.6148C>G (p.Arg2050Gly) c.1717-9356C>G (n.1717-9356C>G) c.6238C>G (p.Arg2080Gly) c.4225C>G (p.Arg1409Gly) c.3775C>G (p.Arg1259Gly) c.2983C>G (p.Arg995Gly) | |
| 8 | g.60852873C>T | CA10602503 | CHD7 | c.6148C>T (p.Arg2050Ter) c.1717-9356C>T (n.1717-9356C>T) c.6238C>T (p.Arg2080Ter) c.4225C>T (p.Arg1409Ter) c.3775C>T (p.Arg1259Ter) c.2983C>T (p.Arg995Ter) | ClinVar dbSNP |
| 8 | g.60852874G>A | CA371324327 | CHD7 | c.6149G>A (p.Arg2050Gln) c.1717-9355G>A (n.1717-9355G>A) c.6239G>A (p.Arg2080Gln) c.4226G>A (p.Arg1409Gln) c.3776G>A (p.Arg1259Gln) c.2984G>A (p.Arg995Gln) | gnomAD v4 |
| 8 | g.60852874G>C | CA371324328 | CHD7 | c.6149G>C (p.Arg2050Pro) c.1717-9355G>C (n.1717-9355G>C) c.6239G>C (p.Arg2080Pro) c.4226G>C (p.Arg1409Pro) c.3776G>C (p.Arg1259Pro) c.2984G>C (p.Arg995Pro) | |
| 8 | g.60852874G>T | CA371324329 | CHD7 | c.6149G>T (p.Arg2050Leu) c.1717-9355G>T (n.1717-9355G>T) c.6239G>T (p.Arg2080Leu) c.4226G>T (p.Arg1409Leu) c.3776G>T (p.Arg1259Leu) c.2984G>T (p.Arg995Leu) | |
| 8 | g.60852875A>C | CA461104928 | CHD7 | c.6150A>C (p.Arg2050=) c.1717-9354A>C (n.1717-9354A>C) c.6240A>C (p.Arg2080=) c.4227A>C (p.Arg1409=) c.3777A>C (p.Arg1259=) c.2985A>C (p.Arg995=) | gnomAD v4 |
| 8 | g.60852875A>G | CA461104929 | CHD7 | c.6150A>G (p.Arg2050=) c.1717-9354A>G (n.1717-9354A>G) c.6240A>G (p.Arg2080=) c.4227A>G (p.Arg1409=) c.3777A>G (p.Arg1259=) c.2985A>G (p.Arg995=) | |
| 8 | g.60852875A>T | CA461104930 | CHD7 | c.6150A>T (p.Arg2050=) c.1717-9354A>T (n.1717-9354A>T) c.6240A>T (p.Arg2080=) c.4227A>T (p.Arg1409=) c.3777A>T (p.Arg1259=) c.2985A>T (p.Arg995=) | gnomAD v4 |
| 8 | g.60852876G>A | CA371324330 | CHD7 | c.6151G>A (p.Ala2051Thr) c.1717-9353G>A (n.1717-9353G>A) c.6241G>A (p.Ala2081Thr) c.4228G>A (p.Ala1410Thr) c.3778G>A (p.Ala1260Thr) c.2986G>A (p.Ala996Thr) | |
| 8 | g.60852876G>C | CA371324332 | CHD7 | c.6151G>C (p.Ala2051Pro) c.1717-9353G>C (n.1717-9353G>C) c.6241G>C (p.Ala2081Pro) c.4228G>C (p.Ala1410Pro) c.3778G>C (p.Ala1260Pro) c.2986G>C (p.Ala996Pro) | |
| 8 | g.60852876G>T | CA371324331 | CHD7 | c.6151G>T (p.Ala2051Ser) c.1717-9353G>T (n.1717-9353G>T) c.6241G>T (p.Ala2081Ser) c.4228G>T (p.Ala1410Ser) c.3778G>T (p.Ala1260Ser) c.2986G>T (p.Ala996Ser) | |
| 8 | g.60852877C>A | CA371324333 | CHD7 | c.6152C>A (p.Ala2051Asp) c.1717-9352C>A (n.1717-9352C>A) c.6242C>A (p.Ala2081Asp) c.4229C>A (p.Ala1410Asp) c.3779C>A (p.Ala1260Asp) c.2987C>A (p.Ala996Asp) | |
| 8 | g.60852877C>G | CA371324334 | CHD7 | c.6152C>G (p.Ala2051Gly) c.1717-9352C>G (n.1717-9352C>G) c.6242C>G (p.Ala2081Gly) c.4229C>G (p.Ala1410Gly) c.3779C>G (p.Ala1260Gly) c.2987C>G (p.Ala996Gly) | |
| 8 | g.60852877C>T | CA371324335 | CHD7 | c.6152C>T (p.Ala2051Val) c.1717-9352C>T (n.1717-9352C>T) c.6242C>T (p.Ala2081Val) c.4229C>T (p.Ala1410Val) c.3779C>T (p.Ala1260Val) c.2987C>T (p.Ala996Val) | |
| 8 | g.60852878C>A | CA461104932 | CHD7 | c.6153C>A (p.Ala2051=) c.1717-9351C>A (n.1717-9351C>A) c.6243C>A (p.Ala2081=) c.4230C>A (p.Ala1410=) c.3780C>A (p.Ala1260=) c.2988C>A (p.Ala996=) | |
| 8 | g.60852878C= | CA1788102521 | CHD7 | c.6153C= (p.Ala2051=) c.1717-9351C= (n.1717-9351C=) c.6243C= (p.Ala2081=) c.4230C= (p.Ala1410=) c.3780C= (p.Ala1260=) c.2988C= (p.Ala996=) | |
| 8 | g.60852878C>G | CA461104933 | CHD7 | c.6153C>G (p.Ala2051=) c.1717-9351C>G (n.1717-9351C>G) c.6243C>G (p.Ala2081=) c.4230C>G (p.Ala1410=) c.3780C>G (p.Ala1260=) c.2988C>G (p.Ala996=) |