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.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=) | |
| 8 | g.60852878C>T | CA4760542 | CHD7 | c.6153C>T (p.Ala2051=) c.1717-9351C>T (n.1717-9351C>T) c.6243C>T (p.Ala2081=) c.4230C>T (p.Ala1410=) c.3780C>T (p.Ala1260=) c.2988C>T (p.Ala996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852879T>A | CA371324336 | CHD7 | c.6154T>A (p.Ser2052Thr) c.1717-9350T>A (n.1717-9350T>A) c.6244T>A (p.Ser2082Thr) c.4231T>A (p.Ser1411Thr) c.3781T>A (p.Ser1261Thr) c.2989T>A (p.Ser997Thr) | |
| 8 | g.60852879T>C | CA371324338 | CHD7 | c.6154T>C (p.Ser2052Pro) c.1717-9350T>C (n.1717-9350T>C) c.6244T>C (p.Ser2082Pro) c.4231T>C (p.Ser1411Pro) c.3781T>C (p.Ser1261Pro) c.2989T>C (p.Ser997Pro) | |
| 8 | g.60852879T>G | CA371324337 | CHD7 | c.6154T>G (p.Ser2052Ala) c.1717-9350T>G (n.1717-9350T>G) c.6244T>G (p.Ser2082Ala) c.4231T>G (p.Ser1411Ala) c.3781T>G (p.Ser1261Ala) c.2989T>G (p.Ser997Ala) | |
| 8 | g.60852880C>A | CA371324339 | CHD7 | c.6155C>A (p.Ser2052Tyr) c.1717-9349C>A (n.1717-9349C>A) c.6245C>A (p.Ser2082Tyr) c.4232C>A (p.Ser1411Tyr) c.3782C>A (p.Ser1261Tyr) c.2990C>A (p.Ser997Tyr) | |
| 8 | g.60852880C= | CA1788102526 | CHD7 | c.6155C= (p.Ser2052=) c.1717-9349C= (n.1717-9349C=) c.6245C= (p.Ser2082=) c.4232C= (p.Ser1411=) c.3782C= (p.Ser1261=) c.2990C= (p.Ser997=) | |
| 8 | g.60852880C>G | CA371324340 | CHD7 | c.6155C>G (p.Ser2052Cys) c.1717-9349C>G (n.1717-9349C>G) c.6245C>G (p.Ser2082Cys) c.4232C>G (p.Ser1411Cys) c.3782C>G (p.Ser1261Cys) c.2990C>G (p.Ser997Cys) | |
| 8 | g.60852880C>T | CA371324341 | CHD7 | c.6155C>T (p.Ser2052Phe) c.1717-9349C>T (n.1717-9349C>T) c.6245C>T (p.Ser2082Phe) c.4232C>T (p.Ser1411Phe) c.3782C>T (p.Ser1261Phe) c.2990C>T (p.Ser997Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852880_60852882delinsAGA | CA2695209408 | CHD7 | c.6155_6157delinsAGA (p.Ser2052Ter) c.1717-9349_1717-9347delinsAGA (n.1717-9349_1717-9347delinsAGA) c.6245_6247delinsAGA (p.Ser2082Ter) c.4232_4234delinsAGA (p.Ser1411Ter) c.3782_3784delinsAGA (p.Ser1261Ter) c.2990_2992delinsAGA (p.Ser997Ter) | |
| 8 | g.60852881T>A | CA461104937 | CHD7 | c.6156T>A (p.Ser2052=) c.1717-9348T>A (n.1717-9348T>A) c.6246T>A (p.Ser2082=) c.4233T>A (p.Ser1411=) c.3783T>A (p.Ser1261=) c.2991T>A (p.Ser997=) | |
| 8 | g.60852881T>C | CA461104938 | CHD7 | c.6156T>C (p.Ser2052=) c.1717-9348T>C (n.1717-9348T>C) c.6246T>C (p.Ser2082=) c.4233T>C (p.Ser1411=) c.3783T>C (p.Ser1261=) c.2991T>C (p.Ser997=) | |
| 8 | g.60852881T>G | CA461104939 | CHD7 | c.6156T>G (p.Ser2052=) c.1717-9348T>G (n.1717-9348T>G) c.6246T>G (p.Ser2082=) c.4233T>G (p.Ser1411=) c.3783T>G (p.Ser1261=) c.2991T>G (p.Ser997=) | |
| 8 | g.60852882C>A | CA461104941 | CHD7 | c.6157C>A (p.Arg2053=) c.1717-9347C>A (n.1717-9347C>A) c.6247C>A (p.Arg2083=) c.4234C>A (p.Arg1412=) c.3784C>A (p.Arg1262=) c.2992C>A (p.Arg998=) | |
| 8 | g.60852882C= | CA1788102532 | CHD7 | c.6157C= (p.Arg2053=) c.1717-9347C= (n.1717-9347C=) c.6247C= (p.Arg2083=) c.4234C= (p.Arg1412=) c.3784C= (p.Arg1262=) c.2992C= (p.Arg998=) | |
| 8 | g.60852882C>G | CA371324342 | CHD7 | c.6157C>G (p.Arg2053Gly) c.1717-9347C>G (n.1717-9347C>G) c.6247C>G (p.Arg2083Gly) c.4234C>G (p.Arg1412Gly) c.3784C>G (p.Arg1262Gly) c.2992C>G (p.Arg998Gly) | |
| 8 | g.60852882C>T | CA271322 | CHD7 | c.6157C>T (p.Arg2053Ter) c.1717-9347C>T (n.1717-9347C>T) c.6247C>T (p.Arg2083Ter) c.4234C>T (p.Arg1412Ter) c.3784C>T (p.Arg1262Ter) c.2992C>T (p.Arg998Ter) | ClinVar dbSNP |
| 8 | g.60852883G>A | CA371324343 | CHD7 | c.6158G>A (p.Arg2053Gln) c.1717-9346G>A (n.1717-9346G>A) c.6248G>A (p.Arg2083Gln) c.4235G>A (p.Arg1412Gln) c.3785G>A (p.Arg1262Gln) c.2993G>A (p.Arg998Gln) | dbSNP gnomAD v4 COSMIC |
| 8 | g.60852883G>C | CA371324344 | CHD7 | c.6158G>C (p.Arg2053Pro) c.1717-9346G>C (n.1717-9346G>C) c.6248G>C (p.Arg2083Pro) c.4235G>C (p.Arg1412Pro) c.3785G>C (p.Arg1262Pro) c.2993G>C (p.Arg998Pro) | |
| 8 | g.60852883G= | CA1788102553 | CHD7 | c.6158G= (p.Arg2053=) c.1717-9346G= (n.1717-9346G=) c.6248G= (p.Arg2083=) c.4235G= (p.Arg1412=) c.3785G= (p.Arg1262=) c.2993G= (p.Arg998=) | |
| 8 | g.60852883G>T | CA371324345 | CHD7 | c.6158G>T (p.Arg2053Leu) c.1717-9346G>T (n.1717-9346G>T) c.6248G>T (p.Arg2083Leu) c.4235G>T (p.Arg1412Leu) c.3785G>T (p.Arg1262Leu) c.2993G>T (p.Arg998Leu) | |
| 8 | g.60852884A>C | CA461104944 | CHD7 | c.6159A>C (p.Arg2053=) c.1717-9345A>C (n.1717-9345A>C) c.6249A>C (p.Arg2083=) c.4236A>C (p.Arg1412=) c.3786A>C (p.Arg1262=) c.2994A>C (p.Arg998=) | |
| 8 | g.60852884A>G | CA461104945 | CHD7 | c.6159A>G (p.Arg2053=) c.1717-9345A>G (n.1717-9345A>G) c.6249A>G (p.Arg2083=) c.4236A>G (p.Arg1412=) c.3786A>G (p.Arg1262=) c.2994A>G (p.Arg998=) | |
| 8 | g.60852884A>T | CA461104946 | CHD7 | c.6159A>T (p.Arg2053=) c.1717-9345A>T (n.1717-9345A>T) c.6249A>T (p.Arg2083=) c.4236A>T (p.Arg1412=) c.3786A>T (p.Arg1262=) c.2994A>T (p.Arg998=) | |
| 8 | g.60852885A>C | CA371324346 | CHD7 | c.6160A>C (p.Thr2054Pro) c.1717-9344A>C (n.1717-9344A>C) c.6250A>C (p.Thr2084Pro) c.4237A>C (p.Thr1413Pro) c.3787A>C (p.Thr1263Pro) c.2995A>C (p.Thr999Pro) | |
| 8 | g.60852885A>G | CA371324347 | CHD7 | c.6160A>G (p.Thr2054Ala) c.1717-9344A>G (n.1717-9344A>G) c.6250A>G (p.Thr2084Ala) c.4237A>G (p.Thr1413Ala) c.3787A>G (p.Thr1263Ala) c.2995A>G (p.Thr999Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60852885A>T | CA371324348 | CHD7 | c.6160A>T (p.Thr2054Ser) c.1717-9344A>T (n.1717-9344A>T) c.6250A>T (p.Thr2084Ser) c.4237A>T (p.Thr1413Ser) c.3787A>T (p.Thr1263Ser) c.2995A>T (p.Thr999Ser) | gnomAD v4 |
| 8 | g.60852885_60852887delinsACT | CA1788102558 | CHD7 | c.6160_6162delinsACT (p.Thr2054=) c.1717-9344_1717-9342delinsACT (n.1717-9344_1717-9342delinsACT) c.6250_6252delinsACT (p.Thr2084=) c.4237_4239delinsACT (p.Thr1413=) c.3787_3789delinsACT (p.Thr1263=) c.2995_2997delinsACT (p.Thr999=) | |
| 8 | g.60852886C>A | CA371324350 | CHD7 | c.6161C>A (p.Thr2054Asn) c.1717-9343C>A (n.1717-9343C>A) c.6251C>A (p.Thr2084Asn) c.4238C>A (p.Thr1413Asn) c.3788C>A (p.Thr1263Asn) c.2996C>A (p.Thr999Asn) | |
| 8 | g.60852886C>G | CA371324351 | CHD7 | c.6161C>G (p.Thr2054Ser) c.1717-9343C>G (n.1717-9343C>G) c.6251C>G (p.Thr2084Ser) c.4238C>G (p.Thr1413Ser) c.3788C>G (p.Thr1263Ser) c.2996C>G (p.Thr999Ser) | |
| 8 | g.60852886C>T | CA371324349 | CHD7 | c.6161C>T (p.Thr2054Ile) c.1717-9343C>T (n.1717-9343C>T) c.6251C>T (p.Thr2084Ile) c.4238C>T (p.Thr1413Ile) c.3788C>T (p.Thr1263Ile) c.2996C>T (p.Thr999Ile) | |
| 8 | g.60852888_60852889del | CA16612522 | CHD7 | c.6163_6164del (p.Leu2055ValfsTer4) c.1717-9341_1717-9340del (n.1717-9341_1717-9340del) c.6253_6254del (p.Leu2085ValfsTer4) c.4240_4241del (p.Leu1414ValfsTer4) c.3790_3791del (p.Leu1264ValfsTer4) c.2998_2999del (p.Leu1000ValfsTer4) | ClinVar dbSNP |
| 8 | g.60852887T>A | CA461104952 | CHD7 | c.6162T>A (p.Thr2054=) c.1717-9342T>A (n.1717-9342T>A) c.6252T>A (p.Thr2084=) c.4239T>A (p.Thr1413=) c.3789T>A (p.Thr1263=) c.2997T>A (p.Thr999=) | |
| 8 | g.60852887T>C | CA461104951 | CHD7 | c.6162T>C (p.Thr2054=) c.1717-9342T>C (n.1717-9342T>C) c.6252T>C (p.Thr2084=) c.4239T>C (p.Thr1413=) c.3789T>C (p.Thr1263=) c.2997T>C (p.Thr999=) | |
| 8 | g.60852887T>G | CA461104950 | CHD7 | c.6162T>G (p.Thr2054=) c.1717-9342T>G (n.1717-9342T>G) c.6252T>G (p.Thr2084=) c.4239T>G (p.Thr1413=) c.3789T>G (p.Thr1263=) c.2997T>G (p.Thr999=) | |
| 8 | g.60852888C>A | CA371324353 | CHD7 | c.6163C>A (p.Leu2055Met) c.1717-9341C>A (n.1717-9341C>A) c.6253C>A (p.Leu2085Met) c.4240C>A (p.Leu1414Met) c.3790C>A (p.Leu1264Met) c.2998C>A (p.Leu1000Met) | COSMIC |
| 8 | g.60852888C= | CA1788102581 | CHD7 | c.6163C= (p.Leu2055=) c.1717-9341C= (n.1717-9341C=) c.6253C= (p.Leu2085=) c.4240C= (p.Leu1414=) c.3790C= (p.Leu1264=) c.2998C= (p.Leu1000=) | |
| 8 | g.60852888C>G | CA371324352 | CHD7 | c.6163C>G (p.Leu2055Val) c.1717-9341C>G (n.1717-9341C>G) c.6253C>G (p.Leu2085Val) c.4240C>G (p.Leu1414Val) c.3790C>G (p.Leu1264Val) c.2998C>G (p.Leu1000Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852888C>T | CA461104954 | CHD7 | c.6163C>T (p.Leu2055=) c.1717-9341C>T (n.1717-9341C>T) c.6253C>T (p.Leu2085=) c.4240C>T (p.Leu1414=) c.3790C>T (p.Leu1264=) c.2998C>T (p.Leu1000=) | |
| 8 | g.60852888_60852890delinsCTG | CA1788102578 | CHD7 | c.6163_6165delinsCTG (p.Leu2055=) c.1717-9341_1717-9339delinsCTG (n.1717-9341_1717-9339delinsCTG) c.6253_6255delinsCTG (p.Leu2085=) c.4240_4242delinsCTG (p.Leu1414=) c.3790_3792delinsCTG (p.Leu1264=) c.2998_3000delinsCTG (p.Leu1000=) | |
| 8 | g.60852889T>A | CA371324356 | CHD7 | c.6164T>A (p.Leu2055Gln) c.1717-9340T>A (n.1717-9340T>A) c.6254T>A (p.Leu2085Gln) c.4241T>A (p.Leu1414Gln) c.3791T>A (p.Leu1264Gln) c.2999T>A (p.Leu1000Gln) | |
| 8 | g.60852889T>C | CA371324354 | CHD7 | c.6164T>C (p.Leu2055Pro) c.1717-9340T>C (n.1717-9340T>C) c.6254T>C (p.Leu2085Pro) c.4241T>C (p.Leu1414Pro) c.3791T>C (p.Leu1264Pro) c.2999T>C (p.Leu1000Pro) | gnomAD v4 |
| 8 | g.60852889T>G | CA371324355 | CHD7 | c.6164T>G (p.Leu2055Arg) c.1717-9340T>G (n.1717-9340T>G) c.6254T>G (p.Leu2085Arg) c.4241T>G (p.Leu1414Arg) c.3791T>G (p.Leu1264Arg) c.2999T>G (p.Leu1000Arg) | |
| 8 | g.60852890_60852891del | CA10588459 | CHD7 | c.6165_6166del (p.Tyr2056ProfsTer3) c.1717-9339_1717-9338del (n.1717-9339_1717-9338del) c.6255_6256del (p.Tyr2086ProfsTer3) c.4242_4243del (p.Tyr1415ProfsTer3) c.3792_3793del (p.Tyr1265ProfsTer3) c.3000_3001del (p.Tyr1001ProfsTer3) | ClinVar dbSNP |
| 8 | g.60852890G>A | CA461104957 | CHD7 | c.6165G>A (p.Leu2055=) c.1717-9339G>A (n.1717-9339G>A) c.6255G>A (p.Leu2085=) c.4242G>A (p.Leu1414=) c.3792G>A (p.Leu1264=) c.3000G>A (p.Leu1000=) | |
| 8 | g.60852890G>C | CA461104958 | CHD7 | c.6165G>C (p.Leu2055=) c.1717-9339G>C (n.1717-9339G>C) c.6255G>C (p.Leu2085=) c.4242G>C (p.Leu1414=) c.3792G>C (p.Leu1264=) c.3000G>C (p.Leu1000=) | |
| 8 | g.60852890G>T | CA461104959 | CHD7 | c.6165G>T (p.Leu2055=) c.1717-9339G>T (n.1717-9339G>T) c.6255G>T (p.Leu2085=) c.4242G>T (p.Leu1414=) c.3792G>T (p.Leu1264=) c.3000G>T (p.Leu1000=) | |
| 8 | g.60852891T>A | CA371324357 | CHD7 | c.6166T>A (p.Tyr2056Asn) c.1717-9338T>A (n.1717-9338T>A) c.6256T>A (p.Tyr2086Asn) c.4243T>A (p.Tyr1415Asn) c.3793T>A (p.Tyr1265Asn) c.3001T>A (p.Tyr1001Asn) | |
| 8 | g.60852891T>C | CA371324358 | CHD7 | c.6166T>C (p.Tyr2056His) c.1717-9338T>C (n.1717-9338T>C) c.6256T>C (p.Tyr2086His) c.4243T>C (p.Tyr1415His) c.3793T>C (p.Tyr1265His) c.3001T>C (p.Tyr1001His) | ClinVar gnomAD v4 |
| 8 | g.60852891T>G | CA371324359 | CHD7 | c.6166T>G (p.Tyr2056Asp) c.1717-9338T>G (n.1717-9338T>G) c.6256T>G (p.Tyr2086Asp) c.4243T>G (p.Tyr1415Asp) c.3793T>G (p.Tyr1265Asp) c.3001T>G (p.Tyr1001Asp) | |
| 8 | g.60852892A= | CA1788102598 | CHD7 | c.6167A= (p.Tyr2056=) c.1717-9337A= (n.1717-9337A=) c.6257A= (p.Tyr2086=) c.4244A= (p.Tyr1415=) c.3794A= (p.Tyr1265=) c.3002A= (p.Tyr1001=) | |
| 8 | g.60852892A>C | CA371324360 | CHD7 | c.6167A>C (p.Tyr2056Ser) c.1717-9337A>C (n.1717-9337A>C) c.6257A>C (p.Tyr2086Ser) c.4244A>C (p.Tyr1415Ser) c.3794A>C (p.Tyr1265Ser) c.3002A>C (p.Tyr1001Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852892A>G | CA371324361 | CHD7 | c.6167A>G (p.Tyr2056Cys) c.1717-9337A>G (n.1717-9337A>G) c.6257A>G (p.Tyr2086Cys) c.4244A>G (p.Tyr1415Cys) c.3794A>G (p.Tyr1265Cys) c.3002A>G (p.Tyr1001Cys) | |
| 8 | g.60852892A>T | CA371324362 | CHD7 | c.6167A>T (p.Tyr2056Phe) c.1717-9337A>T (n.1717-9337A>T) c.6257A>T (p.Tyr2086Phe) c.4244A>T (p.Tyr1415Phe) c.3794A>T (p.Tyr1265Phe) c.3002A>T (p.Tyr1001Phe) | |
| 8 | g.60852893C>A | CA371324363 | CHD7 | c.6168C>A (p.Tyr2056Ter) c.1717-9336C>A (n.1717-9336C>A) c.6258C>A (p.Tyr2086Ter) c.4245C>A (p.Tyr1415Ter) c.3795C>A (p.Tyr1265Ter) c.3003C>A (p.Tyr1001Ter) | |
| 8 | g.60852893C= | CA1788102610 | CHD7 | c.6168C= (p.Tyr2056=) c.1717-9336C= (n.1717-9336C=) c.6258C= (p.Tyr2086=) c.4245C= (p.Tyr1415=) c.3795C= (p.Tyr1265=) c.3003C= (p.Tyr1001=) | |
| 8 | g.60852893C>G | CA371324364 | CHD7 | c.6168C>G (p.Tyr2056Ter) c.1717-9336C>G (n.1717-9336C>G) c.6258C>G (p.Tyr2086Ter) c.4245C>G (p.Tyr1415Ter) c.3795C>G (p.Tyr1265Ter) c.3003C>G (p.Tyr1001Ter) | |
| 8 | g.60852893C>T | CA4760543 | CHD7 | c.6168C>T (p.Tyr2056=) c.1717-9336C>T (n.1717-9336C>T) c.6258C>T (p.Tyr2086=) c.4245C>T (p.Tyr1415=) c.3795C>T (p.Tyr1265=) c.3003C>T (p.Tyr1001=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852894dup | CA2695209409 | CHD7 | c.6169dup (p.Arg2057ProfsTer3) c.1717-9335dup (n.1717-9335dup) c.6259dup (p.Arg2087ProfsTer3) c.4246dup (p.Arg1416ProfsTer3) c.3796dup (p.Arg1266ProfsTer3) c.3004dup (p.Arg1002ProfsTer3) | |
| 8 | g.60852894C>A | CA371324365 | CHD7 | c.6169C>A (p.Arg2057Ser) c.1717-9335C>A (n.1717-9335C>A) c.6259C>A (p.Arg2087Ser) c.4246C>A (p.Arg1416Ser) c.3796C>A (p.Arg1266Ser) c.3004C>A (p.Arg1002Ser) | COSMIC |
| 8 | g.60852894C= | CA1788102615 | CHD7 | c.6169C= (p.Arg2057=) c.1717-9335C= (n.1717-9335C=) c.6259C= (p.Arg2087=) c.4246C= (p.Arg1416=) c.3796C= (p.Arg1266=) c.3004C= (p.Arg1002=) | |
| 8 | g.60852894C>G | CA371324366 | CHD7 | c.6169C>G (p.Arg2057Gly) c.1717-9335C>G (n.1717-9335C>G) c.6259C>G (p.Arg2087Gly) c.4246C>G (p.Arg1416Gly) c.3796C>G (p.Arg1266Gly) c.3004C>G (p.Arg1002Gly) | |
| 8 | g.60852894C>T | CA4760544 | CHD7 | c.6169C>T (p.Arg2057Cys) c.1717-9335C>T (n.1717-9335C>T) c.6259C>T (p.Arg2087Cys) c.4246C>T (p.Arg1416Cys) c.3796C>T (p.Arg1266Cys) c.3004C>T (p.Arg1002Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852895G>A | CA371324367 | CHD7 | c.6170G>A (p.Arg2057His) c.1717-9334G>A (n.1717-9334G>A) c.6260G>A (p.Arg2087His) c.4247G>A (p.Arg1416His) c.3797G>A (p.Arg1266His) c.3005G>A (p.Arg1002His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852895G>C | CA371324368 | CHD7 | c.6170G>C (p.Arg2057Pro) c.1717-9334G>C (n.1717-9334G>C) c.6260G>C (p.Arg2087Pro) c.4247G>C (p.Arg1416Pro) c.3797G>C (p.Arg1266Pro) c.3005G>C (p.Arg1002Pro) | |
| 8 | g.60852895G= | CA1788102635 | CHD7 | c.6170G= (p.Arg2057=) c.1717-9334G= (n.1717-9334G=) c.6260G= (p.Arg2087=) c.4247G= (p.Arg1416=) c.3797G= (p.Arg1266=) c.3005G= (p.Arg1002=) | |
| 8 | g.60852895G>T | CA371324369 | CHD7 | c.6170G>T (p.Arg2057Leu) c.1717-9334G>T (n.1717-9334G>T) c.6260G>T (p.Arg2087Leu) c.4247G>T (p.Arg1416Leu) c.3797G>T (p.Arg1266Leu) c.3005G>T (p.Arg1002Leu) | dbSNP gnomAD v4 |
| 8 | g.60852896C>A | CA461104964 | CHD7 | c.6171C>A (p.Arg2057=) c.1717-9333C>A (n.1717-9333C>A) c.6261C>A (p.Arg2087=) c.4248C>A (p.Arg1416=) c.3798C>A (p.Arg1266=) c.3006C>A (p.Arg1002=) | dbSNP |
| 8 | g.60852896C= | CA1788102644 | CHD7 | c.6171C= (p.Arg2057=) c.1717-9333C= (n.1717-9333C=) c.6261C= (p.Arg2087=) c.4248C= (p.Arg1416=) c.3798C= (p.Arg1266=) c.3006C= (p.Arg1002=) | |
| 8 | g.60852896C>G | CA461104965 | CHD7 | c.6171C>G (p.Arg2057=) c.1717-9333C>G (n.1717-9333C>G) c.6261C>G (p.Arg2087=) c.4248C>G (p.Arg1416=) c.3798C>G (p.Arg1266=) c.3006C>G (p.Arg1002=) | |
| 8 | g.60852896C>T | CA461104966 | CHD7 | c.6171C>T (p.Arg2057=) c.1717-9333C>T (n.1717-9333C>T) c.6261C>T (p.Arg2087=) c.4248C>T (p.Arg1416=) c.3798C>T (p.Arg1266=) c.3006C>T (p.Arg1002=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852897A= | CA1788102659 | CHD7 | c.6172A= (p.Ile2058=) c.1717-9332A= (n.1717-9332A=) c.6262A= (p.Ile2088=) c.4249A= (p.Ile1417=) c.3799A= (p.Ile1267=) c.3007A= (p.Ile1003=) | |
| 8 | g.60852897A>C | CA371324370 | CHD7 | c.6172A>C (p.Ile2058Leu) c.1717-9332A>C (n.1717-9332A>C) c.6262A>C (p.Ile2088Leu) c.4249A>C (p.Ile1417Leu) c.3799A>C (p.Ile1267Leu) c.3007A>C (p.Ile1003Leu) | gnomAD v4 |
| 8 | g.60852897A>G | CA371324371 | CHD7 | c.6172A>G (p.Ile2058Val) c.1717-9332A>G (n.1717-9332A>G) c.6262A>G (p.Ile2088Val) c.4249A>G (p.Ile1417Val) c.3799A>G (p.Ile1267Val) c.3007A>G (p.Ile1003Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852897A>T | CA371324372 | CHD7 | c.6172A>T (p.Ile2058Phe) c.1717-9332A>T (n.1717-9332A>T) c.6262A>T (p.Ile2088Phe) c.4249A>T (p.Ile1417Phe) c.3799A>T (p.Ile1267Phe) c.3007A>T (p.Ile1003Phe) | |
| 8 | g.60852898T>A | CA371324373 | CHD7 | c.6173T>A (p.Ile2058Asn) c.1717-9331T>A (n.1717-9331T>A) c.6263T>A (p.Ile2088Asn) c.4250T>A (p.Ile1417Asn) c.3800T>A (p.Ile1267Asn) c.3008T>A (p.Ile1003Asn) | |
| 8 | g.60852898T>C | CA371324374 | CHD7 | c.6173T>C (p.Ile2058Thr) c.1717-9331T>C (n.1717-9331T>C) c.6263T>C (p.Ile2088Thr) c.4250T>C (p.Ile1417Thr) c.3800T>C (p.Ile1267Thr) c.3008T>C (p.Ile1003Thr) | gnomAD v4 |
| 8 | g.60852898T>G | CA371324375 | CHD7 | c.6173T>G (p.Ile2058Ser) c.1717-9331T>G (n.1717-9331T>G) c.6263T>G (p.Ile2088Ser) c.4250T>G (p.Ile1417Ser) c.3800T>G (p.Ile1267Ser) c.3008T>G (p.Ile1003Ser) | COSMIC |
| 8 | g.60852899T>A | CA461104967 | CHD7 | c.6174T>A (p.Ile2058=) c.1717-9330T>A (n.1717-9330T>A) c.6264T>A (p.Ile2088=) c.4251T>A (p.Ile1417=) c.3801T>A (p.Ile1267=) c.3009T>A (p.Ile1003=) | |
| 8 | g.60852899T>C | CA461104968 | CHD7 | c.6174T>C (p.Ile2058=) c.1717-9330T>C (n.1717-9330T>C) c.6264T>C (p.Ile2088=) c.4251T>C (p.Ile1417=) c.3801T>C (p.Ile1267=) c.3009T>C (p.Ile1003=) | |
| 8 | g.60852899T>G | CA371324376 | CHD7 | c.6174T>G (p.Ile2058Met) c.1717-9330T>G (n.1717-9330T>G) c.6264T>G (p.Ile2088Met) c.4251T>G (p.Ile1417Met) c.3801T>G (p.Ile1267Met) c.3009T>G (p.Ile1003Met) | |
| 8 | g.60852900G>A | CA371324377 | CHD7 | c.6175G>A (p.Glu2059Lys) c.1717-9329G>A (n.1717-9329G>A) c.6265G>A (p.Glu2089Lys) c.4252G>A (p.Glu1418Lys) c.3802G>A (p.Glu1268Lys) c.3010G>A (p.Glu1004Lys) | |
| 8 | g.60852900G>C | CA371324378 | CHD7 | c.6175G>C (p.Glu2059Gln) c.1717-9329G>C (n.1717-9329G>C) c.6265G>C (p.Glu2089Gln) c.4252G>C (p.Glu1418Gln) c.3802G>C (p.Glu1268Gln) c.3010G>C (p.Glu1004Gln) | |
| 8 | g.60852900G= | CA1788102676 | CHD7 | c.6175G= (p.Glu2059=) c.1717-9329G= (n.1717-9329G=) c.6265G= (p.Glu2089=) c.4252G= (p.Glu1418=) c.3802G= (p.Glu1268=) c.3010G= (p.Glu1004=) | |
| 8 | g.60852900G>T | CA16605250 | CHD7 | c.6175G>T (p.Glu2059Ter) c.1717-9329G>T (n.1717-9329G>T) c.6265G>T (p.Glu2089Ter) c.4252G>T (p.Glu1418Ter) c.3802G>T (p.Glu1268Ter) c.3010G>T (p.Glu1004Ter) | ClinVar dbSNP |
| 8 | g.60852901A>C | CA371324379 | CHD7 | c.6176A>C (p.Glu2059Ala) c.1717-9328A>C (n.1717-9328A>C) c.6266A>C (p.Glu2089Ala) c.4253A>C (p.Glu1418Ala) c.3803A>C (p.Glu1268Ala) c.3011A>C (p.Glu1004Ala) | |
| 8 | g.60852901A>G | CA371324380 | CHD7 | c.6176A>G (p.Glu2059Gly) c.1717-9328A>G (n.1717-9328A>G) c.6266A>G (p.Glu2089Gly) c.4253A>G (p.Glu1418Gly) c.3803A>G (p.Glu1268Gly) c.3011A>G (p.Glu1004Gly) | gnomAD v4 |
| 8 | g.60852901A>T | CA371324381 | CHD7 | c.6176A>T (p.Glu2059Val) c.1717-9328A>T (n.1717-9328A>T) c.6266A>T (p.Glu2089Val) c.4253A>T (p.Glu1418Val) c.3803A>T (p.Glu1268Val) c.3011A>T (p.Glu1004Val) | |
| 8 | g.60852902G>A | CA461104972 | CHD7 | c.6177G>A (p.Glu2059=) c.1717-9327G>A (n.1717-9327G>A) c.6267G>A (p.Glu2089=) c.4254G>A (p.Glu1418=) c.3804G>A (p.Glu1268=) c.3012G>A (p.Glu1004=) | dbSNP |
| 8 | g.60852902G>C | CA371324382 | CHD7 | c.6177G>C (p.Glu2059Asp) c.1717-9327G>C (n.1717-9327G>C) c.6267G>C (p.Glu2089Asp) c.4254G>C (p.Glu1418Asp) c.3804G>C (p.Glu1268Asp) c.3012G>C (p.Glu1004Asp) | |
| 8 | g.60852902G= | CA1788102680 | CHD7 | c.6177G= (p.Glu2059=) c.1717-9327G= (n.1717-9327G=) c.6267G= (p.Glu2089=) c.4254G= (p.Glu1418=) c.3804G= (p.Glu1268=) c.3012G= (p.Glu1004=) | |
| 8 | g.60852902G>T | CA371324383 | CHD7 | c.6177G>T (p.Glu2059Asp) c.1717-9327G>T (n.1717-9327G>T) c.6267G>T (p.Glu2089Asp) c.4254G>T (p.Glu1418Asp) c.3804G>T (p.Glu1268Asp) c.3012G>T (p.Glu1004Asp) | gnomAD v4 |
| 8 | g.60852903C>A | CA371324384 | CHD7 | c.6178C>A (p.Leu2060Met) c.1717-9326C>A (n.1717-9326C>A) c.6268C>A (p.Leu2090Met) c.4255C>A (p.Leu1419Met) c.3805C>A (p.Leu1269Met) c.3013C>A (p.Leu1005Met) | gnomAD v4 |
| 8 | g.60852903C= | CA1788102698 | CHD7 | c.6178C= (p.Leu2060=) c.1717-9326C= (n.1717-9326C=) c.6268C= (p.Leu2090=) c.4255C= (p.Leu1419=) c.3805C= (p.Leu1269=) c.3013C= (p.Leu1005=) | |
| 8 | g.60852903C>G | CA371324385 | CHD7 | c.6178C>G (p.Leu2060Val) c.1717-9326C>G (n.1717-9326C>G) c.6268C>G (p.Leu2090Val) c.4255C>G (p.Leu1419Val) c.3805C>G (p.Leu1269Val) c.3013C>G (p.Leu1005Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852903C>T | CA461104973 | CHD7 | c.6178C>T (p.Leu2060=) c.1717-9326C>T (n.1717-9326C>T) c.6268C>T (p.Leu2090=) c.4255C>T (p.Leu1419=) c.3805C>T (p.Leu1269=) c.3013C>T (p.Leu1005=) | |
| 8 | g.60852904del | CA2695209410 | CHD7 | c.6179del (p.Leu2060ArgfsTer?) c.1717-9325del (n.1717-9325del) c.6269del (p.Leu2090ArgfsTer?) c.4256del (p.Leu1419ArgfsTer?) c.3806del (p.Leu1269ArgfsTer?) c.3014del (p.Leu1005ArgfsTer?) | |
| 8 | g.60852904T>A | CA371324386 | CHD7 | c.6179T>A (p.Leu2060Gln) c.1717-9325T>A (n.1717-9325T>A) c.6269T>A (p.Leu2090Gln) c.4256T>A (p.Leu1419Gln) c.3806T>A (p.Leu1269Gln) c.3014T>A (p.Leu1005Gln) | |
| 8 | g.60852904T>C | CA371324387 | CHD7 | c.6179T>C (p.Leu2060Pro) c.1717-9325T>C (n.1717-9325T>C) c.6269T>C (p.Leu2090Pro) c.4256T>C (p.Leu1419Pro) c.3806T>C (p.Leu1269Pro) c.3014T>C (p.Leu1005Pro) | |
| 8 | g.60852904T>G | CA371324388 | CHD7 | c.6179T>G (p.Leu2060Arg) c.1717-9325T>G (n.1717-9325T>G) c.6269T>G (p.Leu2090Arg) c.4256T>G (p.Leu1419Arg) c.3806T>G (p.Leu1269Arg) c.3014T>G (p.Leu1005Arg) | |
| 8 | g.60852905G>A | CA461104977 | CHD7 | c.6180G>A (p.Leu2060=) c.1717-9324G>A (n.1717-9324G>A) c.6270G>A (p.Leu2090=) c.4257G>A (p.Leu1419=) c.3807G>A (p.Leu1269=) c.3015G>A (p.Leu1005=) | |
| 8 | g.60852905G>C | CA461104978 | CHD7 | c.6180G>C (p.Leu2060=) c.1717-9324G>C (n.1717-9324G>C) c.6270G>C (p.Leu2090=) c.4257G>C (p.Leu1419=) c.3807G>C (p.Leu1269=) c.3015G>C (p.Leu1005=) | dbSNP |
| 8 | g.60852905G= | CA1788102705 | CHD7 | c.6180G= (p.Leu2060=) c.1717-9324G= (n.1717-9324G=) c.6270G= (p.Leu2090=) c.4257G= (p.Leu1419=) c.3807G= (p.Leu1269=) c.3015G= (p.Leu1005=) | |
| 8 | g.60852905G>T | CA177354028 | CHD7 | c.6180G>T (p.Leu2060=) c.1717-9324G>T (n.1717-9324G>T) c.6270G>T (p.Leu2090=) c.4257G>T (p.Leu1419=) c.3807G>T (p.Leu1269=) c.3015G>T (p.Leu1005=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852906C>A | CA371324389 | CHD7 | c.6181C>A (p.Leu2061Ile) c.1717-9323C>A (n.1717-9323C>A) c.6271C>A (p.Leu2091Ile) c.4258C>A (p.Leu1420Ile) c.3808C>A (p.Leu1270Ile) c.3016C>A (p.Leu1006Ile) | |
| 8 | g.60852906C>G | CA371324390 | CHD7 | c.6181C>G (p.Leu2061Val) c.1717-9323C>G (n.1717-9323C>G) c.6271C>G (p.Leu2091Val) c.4258C>G (p.Leu1420Val) c.3808C>G (p.Leu1270Val) c.3016C>G (p.Leu1006Val) | |
| 8 | g.60852906C>T | CA461104979 | CHD7 | c.6181C>T (p.Leu2061=) c.1717-9323C>T (n.1717-9323C>T) c.6271C>T (p.Leu2091=) c.4258C>T (p.Leu1420=) c.3808C>T (p.Leu1270=) c.3016C>T (p.Leu1006=) | |
| 8 | g.60852907T>A | CA371324393 | CHD7 | c.6182T>A (p.Leu2061Gln) c.1717-9322T>A (n.1717-9322T>A) c.6272T>A (p.Leu2091Gln) c.4259T>A (p.Leu1420Gln) c.3809T>A (p.Leu1270Gln) c.3017T>A (p.Leu1006Gln) | |
| 8 | g.60852907T>C | CA371324391 | CHD7 | c.6182T>C (p.Leu2061Pro) c.1717-9322T>C (n.1717-9322T>C) c.6272T>C (p.Leu2091Pro) c.4259T>C (p.Leu1420Pro) c.3809T>C (p.Leu1270Pro) c.3017T>C (p.Leu1006Pro) | |
| 8 | g.60852907T>G | CA371324392 | CHD7 | c.6182T>G (p.Leu2061Arg) c.1717-9322T>G (n.1717-9322T>G) c.6272T>G (p.Leu2091Arg) c.4259T>G (p.Leu1420Arg) c.3809T>G (p.Leu1270Arg) c.3017T>G (p.Leu1006Arg) | |
| 8 | g.60852908A= | CA1788102710 | CHD7 | c.6183A= (p.Leu2061=) c.1717-9321A= (n.1717-9321A=) c.6273A= (p.Leu2091=) c.4260A= (p.Leu1420=) c.3810A= (p.Leu1270=) c.3018A= (p.Leu1006=) | |
| 8 | g.60852908A>C | CA461104982 | CHD7 | c.6183A>C (p.Leu2061=) c.1717-9321A>C (n.1717-9321A>C) c.6273A>C (p.Leu2091=) c.4260A>C (p.Leu1420=) c.3810A>C (p.Leu1270=) c.3018A>C (p.Leu1006=) | |
| 8 | g.60852908A>G | CA461104983 | CHD7 | c.6183A>G (p.Leu2061=) c.1717-9321A>G (n.1717-9321A>G) c.6273A>G (p.Leu2091=) c.4260A>G (p.Leu1420=) c.3810A>G (p.Leu1270=) c.3018A>G (p.Leu1006=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852908A>T | CA461104984 | CHD7 | c.6183A>T (p.Leu2061=) c.1717-9321A>T (n.1717-9321A>T) c.6273A>T (p.Leu2091=) c.4260A>T (p.Leu1420=) c.3810A>T (p.Leu1270=) c.3018A>T (p.Leu1006=) | |
| 8 | g.60852909C>A | CA461104985 | CHD7 | c.6184C>A (p.Arg2062=) c.1717-9320C>A (n.1717-9320C>A) c.6274C>A (p.Arg2092=) c.4261C>A (p.Arg1421=) c.3811C>A (p.Arg1271=) c.3019C>A (p.Arg1007=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60852909C= | CA1788102720 | CHD7 | c.6184C= (p.Arg2062=) c.1717-9320C= (n.1717-9320C=) c.6274C= (p.Arg2092=) c.4261C= (p.Arg1421=) c.3811C= (p.Arg1271=) c.3019C= (p.Arg1007=) | |
| 8 | g.60852909C>G | CA371324394 | CHD7 | c.6184C>G (p.Arg2062Gly) c.1717-9320C>G (n.1717-9320C>G) c.6274C>G (p.Arg2092Gly) c.4261C>G (p.Arg1421Gly) c.3811C>G (p.Arg1271Gly) c.3019C>G (p.Arg1007Gly) | |
| 8 | g.60852909C>T | CA10631389 | CHD7 | c.6184C>T (p.Arg2062Trp) c.1717-9320C>T (n.1717-9320C>T) c.6274C>T (p.Arg2092Trp) c.4261C>T (p.Arg1421Trp) c.3811C>T (p.Arg1271Trp) c.3019C>T (p.Arg1007Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>A | CA4760545 | CHD7 | c.6185G>A (p.Arg2062Gln) c.1717-9319G>A (n.1717-9319G>A) c.6275G>A (p.Arg2092Gln) c.4262G>A (p.Arg1421Gln) c.3812G>A (p.Arg1271Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852910G>C | CA371324395 | CHD7 | c.6185G>C (p.Arg2062Pro) c.1717-9319G>C (n.1717-9319G>C) c.6275G>C (p.Arg2092Pro) c.4262G>C (p.Arg1421Pro) c.3812G>C (p.Arg1271Pro) c.3020G>C (p.Arg1007Pro) | |
| 8 | g.60852910G= | CA1788102737 | CHD7 | c.6185G= (p.Arg2062=) c.1717-9319G= (n.1717-9319G=) c.6275G= (p.Arg2092=) c.4262G= (p.Arg1421=) c.3812G= (p.Arg1271=) c.3020G= (p.Arg1007=) | |
| 8 | g.60852910G>T | CA371324396 | CHD7 | c.6185G>T (p.Arg2062Leu) c.1717-9319G>T (n.1717-9319G>T) c.6275G>T (p.Arg2092Leu) c.4262G>T (p.Arg1421Leu) c.3812G>T (p.Arg1271Leu) c.3020G>T (p.Arg1007Leu) | |
| 8 | g.60852911dup | CA2582341678 | CHD7 | c.6186dup (p.Lys2063GlufsTer17) c.1717-9318dup (n.1717-9318dup) c.6276dup (p.Lys2093GlufsTer17) c.4263dup (p.Lys1422GlufsTer17) c.3813dup (p.Lys1272GlufsTer17) c.3021dup (p.Lys1008GlufsTer17) | ClinVar |
| 8 | g.60852911G>A | CA461104987 | CHD7 | c.6186G>A (p.Arg2062=) c.1717-9318G>A (n.1717-9318G>A) c.6276G>A (p.Arg2092=) c.4263G>A (p.Arg1421=) c.3813G>A (p.Arg1271=) c.3021G>A (p.Arg1007=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852911G>C | CA461104988 | CHD7 | c.6186G>C (p.Arg2062=) c.1717-9318G>C (n.1717-9318G>C) c.6276G>C (p.Arg2092=) c.4263G>C (p.Arg1421=) c.3813G>C (p.Arg1271=) c.3021G>C (p.Arg1007=) | |
| 8 | g.60852911G= | CA1788102743 | CHD7 | c.6186G= (p.Arg2062=) c.1717-9318G= (n.1717-9318G=) c.6276G= (p.Arg2092=) c.4263G= (p.Arg1421=) c.3813G= (p.Arg1271=) c.3021G= (p.Arg1007=) | |
| 8 | g.60852911G>T | CA461104989 | CHD7 | c.6186G>T (p.Arg2062=) c.1717-9318G>T (n.1717-9318G>T) c.6276G>T (p.Arg2092=) c.4263G>T (p.Arg1421=) c.3813G>T (p.Arg1271=) c.3021G>T (p.Arg1007=) | |
| 8 | g.60852912A>C | CA371324397 | CHD7 | c.6187A>C (p.Lys2063Gln) c.1717-9317A>C (n.1717-9317A>C) c.6277A>C (p.Lys2093Gln) c.4264A>C (p.Lys1422Gln) c.3814A>C (p.Lys1272Gln) c.3022A>C (p.Lys1008Gln) | |
| 8 | g.60852912A>G | CA371324398 | CHD7 | c.6187A>G (p.Lys2063Glu) c.1717-9317A>G (n.1717-9317A>G) c.6277A>G (p.Lys2093Glu) c.4264A>G (p.Lys1422Glu) c.3814A>G (p.Lys1272Glu) c.3022A>G (p.Lys1008Glu) | |
| 8 | g.60852912A>T | CA371324399 | CHD7 | c.6187A>T (p.Lys2063Ter) c.1717-9317A>T (n.1717-9317A>T) c.6277A>T (p.Lys2093Ter) c.4264A>T (p.Lys1422Ter) c.3814A>T (p.Lys1272Ter) c.3022A>T (p.Lys1008Ter) | |
| 8 | g.60852913A>C | CA371324400 | CHD7 | c.6188A>C (p.Lys2063Thr) c.1717-9316A>C (n.1717-9316A>C) c.6278A>C (p.Lys2093Thr) c.4265A>C (p.Lys1422Thr) c.3815A>C (p.Lys1272Thr) c.3023A>C (p.Lys1008Thr) | |
| 8 | g.60852913A>G | CA371324401 | CHD7 | c.6188A>G (p.Lys2063Arg) c.1717-9316A>G (n.1717-9316A>G) c.6278A>G (p.Lys2093Arg) c.4265A>G (p.Lys1422Arg) c.3815A>G (p.Lys1272Arg) c.3023A>G (p.Lys1008Arg) | |
| 8 | g.60852913A>T | CA371324402 | CHD7 | c.6188A>T (p.Lys2063Met) c.1717-9316A>T (n.1717-9316A>T) c.6278A>T (p.Lys2093Met) c.4265A>T (p.Lys1422Met) c.3815A>T (p.Lys1272Met) c.3023A>T (p.Lys1008Met) | |
| 8 | g.60852914G>A | CA461104990 | CHD7 | c.6189G>A (p.Lys2063=) c.1717-9315G>A (n.1717-9315G>A) c.6279G>A (p.Lys2093=) c.4266G>A (p.Lys1422=) c.3816G>A (p.Lys1272=) c.3024G>A (p.Lys1008=) | |
| 8 | g.60852914G>C | CA371324403 | CHD7 | c.6189G>C (p.Lys2063Asn) c.1717-9315G>C (n.1717-9315G>C) c.6279G>C (p.Lys2093Asn) c.4266G>C (p.Lys1422Asn) c.3816G>C (p.Lys1272Asn) c.3024G>C (p.Lys1008Asn) | |
| 8 | g.60852914G>T | CA371324404 | CHD7 | c.6189G>T (p.Lys2063Asn) c.1717-9315G>T (n.1717-9315G>T) c.6279G>T (p.Lys2093Asn) c.4266G>T (p.Lys1422Asn) c.3816G>T (p.Lys1272Asn) c.3024G>T (p.Lys1008Asn) | |
| 8 | g.60852915A= | CA1788102750 | CHD7 | c.6190A= (p.Ile2064=) c.1717-9314A= (n.1717-9314A=) c.6280A= (p.Ile2094=) c.4267A= (p.Ile1423=) c.3817A= (p.Ile1273=) c.3025A= (p.Ile1009=) | |
| 8 | g.60852915A>C | CA371324406 | CHD7 | c.6190A>C (p.Ile2064Leu) c.1717-9314A>C (n.1717-9314A>C) c.6280A>C (p.Ile2094Leu) c.4267A>C (p.Ile1423Leu) c.3817A>C (p.Ile1273Leu) c.3025A>C (p.Ile1009Leu) | |
| 8 | g.60852915A>G | CA4760546 | CHD7 | c.6190A>G (p.Ile2064Val) c.1717-9314A>G (n.1717-9314A>G) c.6280A>G (p.Ile2094Val) c.4267A>G (p.Ile1423Val) c.3817A>G (p.Ile1273Val) c.3025A>G (p.Ile1009Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852915A>T | CA371324405 | CHD7 | c.6190A>T (p.Ile2064Phe) c.1717-9314A>T (n.1717-9314A>T) c.6280A>T (p.Ile2094Phe) c.4267A>T (p.Ile1423Phe) c.3817A>T (p.Ile1273Phe) c.3025A>T (p.Ile1009Phe) | |
| 8 | g.60852916T>A | CA371324407 | CHD7 | c.6191T>A (p.Ile2064Asn) c.1717-9313T>A (n.1717-9313T>A) c.6281T>A (p.Ile2094Asn) c.4268T>A (p.Ile1423Asn) c.3818T>A (p.Ile1273Asn) c.3026T>A (p.Ile1009Asn) | |
| 8 | g.60852916T>C | CA371324408 | CHD7 | c.6191T>C (p.Ile2064Thr) c.1717-9313T>C (n.1717-9313T>C) c.6281T>C (p.Ile2094Thr) c.4268T>C (p.Ile1423Thr) c.3818T>C (p.Ile1273Thr) c.3026T>C (p.Ile1009Thr) | |
| 8 | g.60852916T>G | CA371324409 | CHD7 | c.6191T>G (p.Ile2064Ser) c.1717-9313T>G (n.1717-9313T>G) c.6281T>G (p.Ile2094Ser) c.4268T>G (p.Ile1423Ser) c.3818T>G (p.Ile1273Ser) c.3026T>G (p.Ile1009Ser) | |
| 8 | g.60852917C>A | CA461104995 | CHD7 | c.6192C>A (p.Ile2064=) c.1717-9312C>A (n.1717-9312C>A) c.6282C>A (p.Ile2094=) c.4269C>A (p.Ile1423=) c.3819C>A (p.Ile1273=) c.3027C>A (p.Ile1009=) | |
| 8 | g.60852917C= | CA1788102758 | CHD7 | c.6192C= (p.Ile2064=) c.1717-9312C= (n.1717-9312C=) c.6282C= (p.Ile2094=) c.4269C= (p.Ile1423=) c.3819C= (p.Ile1273=) c.3027C= (p.Ile1009=) | |
| 8 | g.60852917C>G | CA371324410 | CHD7 | c.6192C>G (p.Ile2064Met) c.1717-9312C>G (n.1717-9312C>G) c.6282C>G (p.Ile2094Met) c.4269C>G (p.Ile1423Met) c.3819C>G (p.Ile1273Met) c.3027C>G (p.Ile1009Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852917C>T | CA461104993 | CHD7 | c.6192C>T (p.Ile2064=) c.1717-9312C>T (n.1717-9312C>T) c.6282C>T (p.Ile2094=) c.4269C>T (p.Ile1423=) c.3819C>T (p.Ile1273=) c.3027C>T (p.Ile1009=) | |
| 8 | g.60852918C>A | CA371324411 | CHD7 | c.6193C>A (p.Arg2065Ser) c.1717-9311C>A (n.1717-9311C>A) c.6283C>A (p.Arg2095Ser) c.4270C>A (p.Arg1424Ser) c.3820C>A (p.Arg1274Ser) c.3028C>A (p.Arg1010Ser) | |
| 8 | g.60852918C= | CA1788102771 | CHD7 | c.6193C= (p.Arg2065=) c.1717-9311C= (n.1717-9311C=) c.6283C= (p.Arg2095=) c.4270C= (p.Arg1424=) c.3820C= (p.Arg1274=) c.3028C= (p.Arg1010=) | |
| 8 | g.60852918C>G | CA16618675 | CHD7 | c.6193C>G (p.Arg2065Gly) c.1717-9311C>G (n.1717-9311C>G) c.6283C>G (p.Arg2095Gly) c.4270C>G (p.Arg1424Gly) c.3820C>G (p.Arg1274Gly) c.3028C>G (p.Arg1010Gly) | ClinVar dbSNP |
| 8 | g.60852918C>T | CA371324412 | CHD7 | c.6193C>T (p.Arg2065Cys) c.1717-9311C>T (n.1717-9311C>T) c.6283C>T (p.Arg2095Cys) c.4270C>T (p.Arg1424Cys) c.3820C>T (p.Arg1274Cys) c.3028C>T (p.Arg1010Cys) | ClinVar dbSNP |
| 8 | g.60852919G>A | CA371324413 | CHD7 | c.6194G>A (p.Arg2065His) c.1717-9310G>A (n.1717-9310G>A) c.6284G>A (p.Arg2095His) c.4271G>A (p.Arg1424His) c.3821G>A (p.Arg1274His) c.3029G>A (p.Arg1010His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852919G>C | CA371324415 | CHD7 | c.6194G>C (p.Arg2065Pro) c.1717-9310G>C (n.1717-9310G>C) c.6284G>C (p.Arg2095Pro) c.4271G>C (p.Arg1424Pro) c.3821G>C (p.Arg1274Pro) c.3029G>C (p.Arg1010Pro) | |
| 8 | g.60852919G= | CA1788102791 | CHD7 | c.6194G= (p.Arg2065=) c.1717-9310G= (n.1717-9310G=) c.6284G= (p.Arg2095=) c.4271G= (p.Arg1424=) c.3821G= (p.Arg1274=) c.3029G= (p.Arg1010=) | |
| 8 | g.60852919G>T | CA371324414 | CHD7 | c.6194G>T (p.Arg2065Leu) c.1717-9310G>T (n.1717-9310G>T) c.6284G>T (p.Arg2095Leu) c.4271G>T (p.Arg1424Leu) c.3821G>T (p.Arg1274Leu) c.3029G>T (p.Arg1010Leu) | |
| 8 | g.60852920C>A | CA461104996 | CHD7 | c.6195C>A (p.Arg2065=) c.1717-9309C>A (n.1717-9309C>A) c.6285C>A (p.Arg2095=) c.4272C>A (p.Arg1424=) c.3822C>A (p.Arg1274=) c.3030C>A (p.Arg1010=) | |
| 8 | g.60852920C= | CA1788102803 | CHD7 | c.6195C= (p.Arg2065=) c.1717-9309C= (n.1717-9309C=) c.6285C= (p.Arg2095=) c.4272C= (p.Arg1424=) c.3822C= (p.Arg1274=) c.3030C= (p.Arg1010=) | |
| 8 | g.60852920C>G | CA461104999 | CHD7 | c.6195C>G (p.Arg2065=) c.1717-9309C>G (n.1717-9309C>G) c.6285C>G (p.Arg2095=) c.4272C>G (p.Arg1424=) c.3822C>G (p.Arg1274=) c.3030C>G (p.Arg1010=) | |
| 8 | g.60852920C>T | CA4760547 | CHD7 | c.6195C>T (p.Arg2065=) c.1717-9309C>T (n.1717-9309C>T) c.6285C>T (p.Arg2095=) c.4272C>T (p.Arg1424=) c.3822C>T (p.Arg1274=) c.3030C>T (p.Arg1010=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60852921G>A | CA371324416 | CHD7 | c.6196G>A (p.Glu2066Lys) c.1717-9308G>A (n.1717-9308G>A) c.6286G>A (p.Glu2096Lys) c.4273G>A (p.Glu1425Lys) c.3823G>A (p.Glu1275Lys) c.3031G>A (p.Glu1011Lys) | ClinVar gnomAD v4 |
| 8 | g.60852921G>C | CA4760548 | CHD7 | c.6196G>C (p.Glu2066Gln) c.1717-9308G>C (n.1717-9308G>C) c.6286G>C (p.Glu2096Gln) c.4273G>C (p.Glu1425Gln) c.3823G>C (p.Glu1275Gln) c.3031G>C (p.Glu1011Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852921G= | CA1788102814 | CHD7 | c.6196G= (p.Glu2066=) c.1717-9308G= (n.1717-9308G=) c.6286G= (p.Glu2096=) c.4273G= (p.Glu1425=) c.3823G= (p.Glu1275=) c.3031G= (p.Glu1011=) | |
| 8 | g.60852921G>T | CA371324417 | CHD7 | c.6196G>T (p.Glu2066Ter) c.1717-9308G>T (n.1717-9308G>T) c.6286G>T (p.Glu2096Ter) c.4273G>T (p.Glu1425Ter) c.3823G>T (p.Glu1275Ter) c.3031G>T (p.Glu1011Ter) | |
| 8 | g.60852922A= | CA1788102822 | CHD7 | c.6197A= (p.Glu2066=) c.1717-9307A= (n.1717-9307A=) c.6287A= (p.Glu2096=) c.4274A= (p.Glu1425=) c.3824A= (p.Glu1275=) c.3032A= (p.Glu1011=) | |
| 8 | g.60852922A>C | CA371324420 | CHD7 | c.6197A>C (p.Glu2066Ala) c.1717-9307A>C (n.1717-9307A>C) c.6287A>C (p.Glu2096Ala) c.4274A>C (p.Glu1425Ala) c.3824A>C (p.Glu1275Ala) c.3032A>C (p.Glu1011Ala) | |
| 8 | g.60852922A>G | CA371324418 | CHD7 | c.6197A>G (p.Glu2066Gly) c.1717-9307A>G (n.1717-9307A>G) c.6287A>G (p.Glu2096Gly) c.4274A>G (p.Glu1425Gly) c.3824A>G (p.Glu1275Gly) c.3032A>G (p.Glu1011Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852922A>T | CA371324419 | CHD7 | c.6197A>T (p.Glu2066Val) c.1717-9307A>T (n.1717-9307A>T) c.6287A>T (p.Glu2096Val) c.4274A>T (p.Glu1425Val) c.3824A>T (p.Glu1275Val) c.3032A>T (p.Glu1011Val) | |
| 8 | g.60852923G>A | CA461105001 | CHD7 | c.6198G>A (p.Glu2066=) c.1717-9306G>A (n.1717-9306G>A) c.6288G>A (p.Glu2096=) c.4275G>A (p.Glu1425=) c.3825G>A (p.Glu1275=) c.3033G>A (p.Glu1011=) | |
| 8 | g.60852923G>C | CA177354036 | CHD7 | c.6198G>C (p.Glu2066Asp) c.1717-9306G>C (n.1717-9306G>C) c.6288G>C (p.Glu2096Asp) c.4275G>C (p.Glu1425Asp) c.3825G>C (p.Glu1275Asp) c.3033G>C (p.Glu1011Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852923G= | CA1788102829 | CHD7 | c.6198G= (p.Glu2066=) c.1717-9306G= (n.1717-9306G=) c.6288G= (p.Glu2096=) c.4275G= (p.Glu1425=) c.3825G= (p.Glu1275=) c.3033G= (p.Glu1011=) | |
| 8 | g.60852923G>T | CA371324421 | CHD7 | c.6198G>T (p.Glu2066Asp) c.1717-9306G>T (n.1717-9306G>T) c.6288G>T (p.Glu2096Asp) c.4275G>T (p.Glu1425Asp) c.3825G>T (p.Glu1275Asp) c.3033G>T (p.Glu1011Asp) | |
| 8 | g.60852924C>A | CA371324422 | CHD7 | c.6199C>A (p.Gln2067Lys) c.1717-9305C>A (n.1717-9305C>A) c.6289C>A (p.Gln2097Lys) c.4276C>A (p.Gln1426Lys) c.3826C>A (p.Gln1276Lys) c.3034C>A (p.Gln1012Lys) | |
| 8 | g.60852924C= | CA1788102838 | CHD7 | c.6199C= (p.Gln2067=) c.1717-9305C= (n.1717-9305C=) c.6289C= (p.Gln2097=) c.4276C= (p.Gln1426=) c.3826C= (p.Gln1276=) c.3034C= (p.Gln1012=) | |
| 8 | g.60852924C>G | CA4760549 | CHD7 | c.6199C>G (p.Gln2067Glu) c.1717-9305C>G (n.1717-9305C>G) c.6289C>G (p.Gln2097Glu) c.4276C>G (p.Gln1426Glu) c.3826C>G (p.Gln1276Glu) c.3034C>G (p.Gln1012Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852924C>T | CA371324423 | CHD7 | c.6199C>T (p.Gln2067Ter) c.1717-9305C>T (n.1717-9305C>T) c.6289C>T (p.Gln2097Ter) c.4276C>T (p.Gln1426Ter) c.3826C>T (p.Gln1276Ter) c.3034C>T (p.Gln1012Ter) | ClinVar dbSNP |
| 8 | g.60852925A>C | CA371324424 | CHD7 | c.6200A>C (p.Gln2067Pro) c.1717-9304A>C (n.1717-9304A>C) c.6290A>C (p.Gln2097Pro) c.4277A>C (p.Gln1426Pro) c.3827A>C (p.Gln1276Pro) c.3035A>C (p.Gln1012Pro) | |
| 8 | g.60852925A>G | CA371324425 | CHD7 | c.6200A>G (p.Gln2067Arg) c.1717-9304A>G (n.1717-9304A>G) c.6290A>G (p.Gln2097Arg) c.4277A>G (p.Gln1426Arg) c.3827A>G (p.Gln1276Arg) c.3035A>G (p.Gln1012Arg) | |
| 8 | g.60852925A>T | CA371324426 | CHD7 | c.6200A>T (p.Gln2067Leu) c.1717-9304A>T (n.1717-9304A>T) c.6290A>T (p.Gln2097Leu) c.4277A>T (p.Gln1426Leu) c.3827A>T (p.Gln1276Leu) c.3035A>T (p.Gln1012Leu) | |
| 8 | g.60852926G>A | CA461105098 | CHD7 | c.6201G>A (p.Gln2067=) c.1717-9303G>A (n.1717-9303G>A) c.6291G>A (p.Gln2097=) c.4278G>A (p.Gln1426=) c.3828G>A (p.Gln1276=) c.3036G>A (p.Gln1012=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852926G>C | CA371324427 | CHD7 | c.6201G>C (p.Gln2067His) c.1717-9303G>C (n.1717-9303G>C) c.6291G>C (p.Gln2097His) c.4278G>C (p.Gln1426His) c.3828G>C (p.Gln1276His) c.3036G>C (p.Gln1012His) | |
| 8 | g.60852926G= | CA1788102841 | CHD7 | c.6201G= (p.Gln2067=) c.1717-9303G= (n.1717-9303G=) c.6291G= (p.Gln2097=) c.4278G= (p.Gln1426=) c.3828G= (p.Gln1276=) c.3036G= (p.Gln1012=) | |
| 8 | g.60852926G>T | CA371324428 | CHD7 | c.6201G>T (p.Gln2067His) c.1717-9303G>T (n.1717-9303G>T) c.6291G>T (p.Gln2097His) c.4278G>T (p.Gln1426His) c.3828G>T (p.Gln1276His) c.3036G>T (p.Gln1012His) | gnomAD v4 |
| 8 | g.60852927G>A | CA371324429 | CHD7 | c.6202G>A (p.Val2068Ile) c.1717-9302G>A (n.1717-9302G>A) c.6292G>A (p.Val2098Ile) c.4279G>A (p.Val1427Ile) c.3829G>A (p.Val1277Ile) c.3037G>A (p.Val1013Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60852927G>C | CA371324430 | CHD7 | c.6202G>C (p.Val2068Leu) c.1717-9302G>C (n.1717-9302G>C) c.6292G>C (p.Val2098Leu) c.4279G>C (p.Val1427Leu) c.3829G>C (p.Val1277Leu) c.3037G>C (p.Val1013Leu) | gnomAD v4 |
| 8 | g.60852927G= | CA1788102848 | CHD7 | c.6202G= (p.Val2068=) c.1717-9302G= (n.1717-9302G=) c.6292G= (p.Val2098=) c.4279G= (p.Val1427=) c.3829G= (p.Val1277=) c.3037G= (p.Val1013=) | |
| 8 | g.60852927G>T | CA371324431 | CHD7 | c.6202G>T (p.Val2068Phe) c.1717-9302G>T (n.1717-9302G>T) c.6292G>T (p.Val2098Phe) c.4279G>T (p.Val1427Phe) c.3829G>T (p.Val1277Phe) c.3037G>T (p.Val1013Phe) | |
| 8 | g.60852928T>A | CA371324432 | CHD7 | c.6203T>A (p.Val2068Asp) c.1717-9301T>A (n.1717-9301T>A) c.6293T>A (p.Val2098Asp) c.4280T>A (p.Val1427Asp) c.3830T>A (p.Val1277Asp) c.3038T>A (p.Val1013Asp) | |
| 8 | g.60852928T>C | CA371324434 | CHD7 | c.6203T>C (p.Val2068Ala) c.1717-9301T>C (n.1717-9301T>C) c.6293T>C (p.Val2098Ala) c.4280T>C (p.Val1427Ala) c.3830T>C (p.Val1277Ala) c.3038T>C (p.Val1013Ala) | |
| 8 | g.60852928T>G | CA371324433 | CHD7 | c.6203T>G (p.Val2068Gly) c.1717-9301T>G (n.1717-9301T>G) c.6293T>G (p.Val2098Gly) c.4280T>G (p.Val1427Gly) c.3830T>G (p.Val1277Gly) c.3038T>G (p.Val1013Gly) | |
| 8 | g.60852929T>A | CA461105100 | CHD7 | c.6204T>A (p.Val2068=) c.1717-9300T>A (n.1717-9300T>A) c.6294T>A (p.Val2098=) c.4281T>A (p.Val1427=) c.3831T>A (p.Val1277=) c.3039T>A (p.Val1013=) | |
| 8 | g.60852929T>C | CA461105101 | CHD7 | c.6204T>C (p.Val2068=) c.1717-9300T>C (n.1717-9300T>C) c.6294T>C (p.Val2098=) c.4281T>C (p.Val1427=) c.3831T>C (p.Val1277=) c.3039T>C (p.Val1013=) | |
| 8 | g.60852929T>G | CA461105102 | CHD7 | c.6204T>G (p.Val2068=) c.1717-9300T>G (n.1717-9300T>G) c.6294T>G (p.Val2098=) c.4281T>G (p.Val1427=) c.3831T>G (p.Val1277=) c.3039T>G (p.Val1013=) | |
| 8 | g.60852930C>A | CA371324435 | CHD7 | c.6205C>A (p.Leu2069Ile) c.1717-9299C>A (n.1717-9299C>A) c.6295C>A (p.Leu2099Ile) c.4282C>A (p.Leu1428Ile) c.3832C>A (p.Leu1278Ile) c.3040C>A (p.Leu1014Ile) | gnomAD v4 |
| 8 | g.60852930C= | CA1788102861 | CHD7 | c.6205C= (p.Leu2069=) c.1717-9299C= (n.1717-9299C=) c.6295C= (p.Leu2099=) c.4282C= (p.Leu1428=) c.3832C= (p.Leu1278=) c.3040C= (p.Leu1014=) | |
| 8 | g.60852930C>G | CA4760550 | CHD7 | c.6205C>G (p.Leu2069Val) c.1717-9299C>G (n.1717-9299C>G) c.6295C>G (p.Leu2099Val) c.4282C>G (p.Leu1428Val) c.3832C>G (p.Leu1278Val) c.3040C>G (p.Leu1014Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852930C>T | CA371324436 | CHD7 | c.6205C>T (p.Leu2069Phe) c.1717-9299C>T (n.1717-9299C>T) c.6295C>T (p.Leu2099Phe) c.4282C>T (p.Leu1428Phe) c.3832C>T (p.Leu1278Phe) c.3040C>T (p.Leu1014Phe) | gnomAD v4 |
| 8 | g.60852931T>A | CA371324437 | CHD7 | c.6206T>A (p.Leu2069His) c.1717-9298T>A (n.1717-9298T>A) c.6296T>A (p.Leu2099His) c.4283T>A (p.Leu1428His) c.3833T>A (p.Leu1278His) c.3041T>A (p.Leu1014His) | |
| 8 | g.60852931T>C | CA371324438 | CHD7 | c.6206T>C (p.Leu2069Pro) c.1717-9298T>C (n.1717-9298T>C) c.6296T>C (p.Leu2099Pro) c.4283T>C (p.Leu1428Pro) c.3833T>C (p.Leu1278Pro) c.3041T>C (p.Leu1014Pro) | |
| 8 | g.60852931T>G | CA371324439 | CHD7 | c.6206T>G (p.Leu2069Arg) c.1717-9298T>G (n.1717-9298T>G) c.6296T>G (p.Leu2099Arg) c.4283T>G (p.Leu1428Arg) c.3833T>G (p.Leu1278Arg) c.3041T>G (p.Leu1014Arg) | |
| 8 | g.60852932C>A | CA461105106 | CHD7 | c.6207C>A (p.Leu2069=) c.1717-9297C>A (n.1717-9297C>A) c.6297C>A (p.Leu2099=) c.4284C>A (p.Leu1428=) c.3834C>A (p.Leu1278=) c.3042C>A (p.Leu1014=) | |
| 8 | g.60852932C= | CA1788102881 | CHD7 | c.6207C= (p.Leu2069=) c.1717-9297C= (n.1717-9297C=) c.6297C= (p.Leu2099=) c.4284C= (p.Leu1428=) c.3834C= (p.Leu1278=) c.3042C= (p.Leu1014=) | |
| 8 | g.60852932C>G | CA461105107 | CHD7 | c.6207C>G (p.Leu2069=) c.1717-9297C>G (n.1717-9297C>G) c.6297C>G (p.Leu2099=) c.4284C>G (p.Leu1428=) c.3834C>G (p.Leu1278=) c.3042C>G (p.Leu1014=) | |
| 8 | g.60852932C>T | CA4760551 | CHD7 | c.6207C>T (p.Leu2069=) c.1717-9297C>T (n.1717-9297C>T) c.6297C>T (p.Leu2099=) c.4284C>T (p.Leu1428=) c.3834C>T (p.Leu1278=) c.3042C>T (p.Leu1014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852933dup | CA2580078851 | CHD7 | c.6208dup (p.His2070ProfsTer10) c.1717-9296dup (n.1717-9296dup) c.6298dup (p.His2100ProfsTer10) c.4285dup (p.His1429ProfsTer10) c.3835dup (p.His1279ProfsTer10) c.3043dup (p.His1015ProfsTer10) | ClinVar |
| 8 | g.60852933C>A | CA371324440 | CHD7 | c.6208C>A (p.His2070Asn) c.1717-9296C>A (n.1717-9296C>A) c.6298C>A (p.His2100Asn) c.4285C>A (p.His1429Asn) c.3835C>A (p.His1279Asn) c.3043C>A (p.His1015Asn) | |
| 8 | g.60852933C>G | CA371324442 | CHD7 | c.6208C>G (p.His2070Asp) c.1717-9296C>G (n.1717-9296C>G) c.6298C>G (p.His2100Asp) c.4285C>G (p.His1429Asp) c.3835C>G (p.His1279Asp) c.3043C>G (p.His1015Asp) | |
| 8 | g.60852933C>T | CA371324443 | CHD7 | c.6208C>T (p.His2070Tyr) c.1717-9296C>T (n.1717-9296C>T) c.6298C>T (p.His2100Tyr) c.4285C>T (p.His1429Tyr) c.3835C>T (p.His1279Tyr) c.3043C>T (p.His1015Tyr) | gnomAD v4 |
| 8 | g.60852934del | CA2695209411 | CHD7 | c.6209del (p.His2070LeufsTer?) c.1717-9295del (n.1717-9295del) c.6299del (p.His2100LeufsTer?) c.4286del (p.His1429LeufsTer?) c.3836del (p.His1279LeufsTer?) c.3044del (p.His1015LeufsTer?) | |
| 8 | g.60852934A>C | CA371324445 | CHD7 | c.6209A>C (p.His2070Pro) c.1717-9295A>C (n.1717-9295A>C) c.6299A>C (p.His2100Pro) c.4286A>C (p.His1429Pro) c.3836A>C (p.His1279Pro) c.3044A>C (p.His1015Pro) | |
| 8 | g.60852934A>G | CA371324446 | CHD7 | c.6209A>G (p.His2070Arg) c.1717-9295A>G (n.1717-9295A>G) c.6299A>G (p.His2100Arg) c.4286A>G (p.His1429Arg) c.3836A>G (p.His1279Arg) c.3044A>G (p.His1015Arg) | gnomAD v4 |
| 8 | g.60852934A>T | CA371324447 | CHD7 | c.6209A>T (p.His2070Leu) c.1717-9295A>T (n.1717-9295A>T) c.6299A>T (p.His2100Leu) c.4286A>T (p.His1429Leu) c.3836A>T (p.His1279Leu) c.3044A>T (p.His1015Leu) | |
| 8 | g.60852935T>A | CA371324449 | CHD7 | c.6210T>A (p.His2070Gln) c.1717-9294T>A (n.1717-9294T>A) c.6300T>A (p.His2100Gln) c.4287T>A (p.His1429Gln) c.3837T>A (p.His1279Gln) c.3045T>A (p.His1015Gln) | |
| 8 | g.60852935T>C | CA461105108 | CHD7 | c.6210T>C (p.His2070=) c.1717-9294T>C (n.1717-9294T>C) c.6300T>C (p.His2100=) c.4287T>C (p.His1429=) c.3837T>C (p.His1279=) c.3045T>C (p.His1015=) | |
| 8 | g.60852935T>G | CA371324448 | CHD7 | c.6210T>G (p.His2070Gln) c.1717-9294T>G (n.1717-9294T>G) c.6300T>G (p.His2100Gln) c.4287T>G (p.His1429Gln) c.3837T>G (p.His1279Gln) c.3045T>G (p.His1015Gln) | |
| 8 | g.60852936C>A | CA371324450 | CHD7 | c.6211C>A (p.His2071Asn) c.1717-9293C>A (n.1717-9293C>A) c.6301C>A (p.His2101Asn) c.4288C>A (p.His1430Asn) c.3838C>A (p.His1280Asn) c.3046C>A (p.His1016Asn) | |
| 8 | g.60852936C>G | CA371324451 | CHD7 | c.6211C>G (p.His2071Asp) c.1717-9293C>G (n.1717-9293C>G) c.6301C>G (p.His2101Asp) c.4288C>G (p.His1430Asp) c.3838C>G (p.His1280Asp) c.3046C>G (p.His1016Asp) | |
| 8 | g.60852936C>T | CA371324452 | CHD7 | c.6211C>T (p.His2071Tyr) c.1717-9293C>T (n.1717-9293C>T) c.6301C>T (p.His2101Tyr) c.4288C>T (p.His1430Tyr) c.3838C>T (p.His1280Tyr) c.3046C>T (p.His1016Tyr) | |
| 8 | g.60852937A= | CA1788102893 | CHD7 | c.6212A= (p.His2071=) c.1717-9292A= (n.1717-9292A=) c.6302A= (p.His2101=) c.4289A= (p.His1430=) c.3839A= (p.His1280=) c.3047A= (p.His1016=) | |
| 8 | g.60852937A>C | CA371324453 | CHD7 | c.6212A>C (p.His2071Pro) c.1717-9292A>C (n.1717-9292A>C) c.6302A>C (p.His2101Pro) c.4289A>C (p.His1430Pro) c.3839A>C (p.His1280Pro) c.3047A>C (p.His1016Pro) | dbSNP |
| 8 | g.60852937A>G | CA371324454 | CHD7 | c.6212A>G (p.His2071Arg) c.1717-9292A>G (n.1717-9292A>G) c.6302A>G (p.His2101Arg) c.4289A>G (p.His1430Arg) c.3839A>G (p.His1280Arg) c.3047A>G (p.His1016Arg) | gnomAD v4 COSMIC |
| 8 | g.60852937A>T | CA371324455 | CHD7 | c.6212A>T (p.His2071Leu) c.1717-9292A>T (n.1717-9292A>T) c.6302A>T (p.His2101Leu) c.4289A>T (p.His1430Leu) c.3839A>T (p.His1280Leu) c.3047A>T (p.His1016Leu) | dbSNP |
| 8 | g.60852938C>A | CA371324456 | CHD7 | c.6213C>A (p.His2071Gln) c.1717-9291C>A (n.1717-9291C>A) c.6303C>A (p.His2101Gln) c.4290C>A (p.His1430Gln) c.3840C>A (p.His1280Gln) c.3048C>A (p.His1016Gln) | dbSNP |
| 8 | g.60852938C= | CA1788102895 | CHD7 | c.6213C= (p.His2071=) c.1717-9291C= (n.1717-9291C=) c.6303C= (p.His2101=) c.4290C= (p.His1430=) c.3840C= (p.His1280=) c.3048C= (p.His1016=) | |
| 8 | g.60852938C>G | CA371324457 | CHD7 | c.6213C>G (p.His2071Gln) c.1717-9291C>G (n.1717-9291C>G) c.6303C>G (p.His2101Gln) c.4290C>G (p.His1430Gln) c.3840C>G (p.His1280Gln) c.3048C>G (p.His1016Gln) | |
| 8 | g.60852938C>T | CA461105110 | CHD7 | c.6213C>T (p.His2071=) c.1717-9291C>T (n.1717-9291C>T) c.6303C>T (p.His2101=) c.4290C>T (p.His1430=) c.3840C>T (p.His1280=) c.3048C>T (p.His1016=) | |
| 8 | g.60852939C>A | CA371324458 | CHD7 | c.6214C>A (p.Pro2072Thr) c.1717-9290C>A (n.1717-9290C>A) c.6304C>A (p.Pro2102Thr) c.4291C>A (p.Pro1431Thr) c.3841C>A (p.Pro1281Thr) c.3049C>A (p.Pro1017Thr) | |
| 8 | g.60852939C= | CA1788102907 | CHD7 | c.6214C= (p.Pro2072=) c.1717-9290C= (n.1717-9290C=) c.6304C= (p.Pro2102=) c.4291C= (p.Pro1431=) c.3841C= (p.Pro1281=) c.3049C= (p.Pro1017=) | |
| 8 | g.60852939C>G | CA371324459 | CHD7 | c.6214C>G (p.Pro2072Ala) c.1717-9290C>G (n.1717-9290C>G) c.6304C>G (p.Pro2102Ala) c.4291C>G (p.Pro1431Ala) c.3841C>G (p.Pro1281Ala) c.3049C>G (p.Pro1017Ala) | |
| 8 | g.60852939C>T | CA4760552 | CHD7 | c.6214C>T (p.Pro2072Ser) c.1717-9290C>T (n.1717-9290C>T) c.6304C>T (p.Pro2102Ser) c.4291C>T (p.Pro1431Ser) c.3841C>T (p.Pro1281Ser) c.3049C>T (p.Pro1017Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852940C>A | CA371324460 | CHD7 | c.6215C>A (p.Pro2072His) c.1717-9289C>A (n.1717-9289C>A) c.6305C>A (p.Pro2102His) c.4292C>A (p.Pro1431His) c.3842C>A (p.Pro1281His) c.3050C>A (p.Pro1017His) | |
| 8 | g.60852940C= | CA1788102917 | CHD7 | c.6215C= (p.Pro2072=) c.1717-9289C= (n.1717-9289C=) c.6305C= (p.Pro2102=) c.4292C= (p.Pro1431=) c.3842C= (p.Pro1281=) c.3050C= (p.Pro1017=) | |
| 8 | g.60852940C>G | CA371324461 | CHD7 | c.6215C>G (p.Pro2072Arg) c.1717-9289C>G (n.1717-9289C>G) c.6305C>G (p.Pro2102Arg) c.4292C>G (p.Pro1431Arg) c.3842C>G (p.Pro1281Arg) c.3050C>G (p.Pro1017Arg) | |
| 8 | g.60852940C>T | CA4760553 | CHD7 | c.6215C>T (p.Pro2072Leu) c.1717-9289C>T (n.1717-9289C>T) c.6305C>T (p.Pro2102Leu) c.4292C>T (p.Pro1431Leu) c.3842C>T (p.Pro1281Leu) c.3050C>T (p.Pro1017Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.60852941C>A | CA461105112 | CHD7 | c.6216C>A (p.Pro2072=) c.1717-9288C>A (n.1717-9288C>A) c.6306C>A (p.Pro2102=) c.4293C>A (p.Pro1431=) c.3843C>A (p.Pro1281=) c.3051C>A (p.Pro1017=) | |
| 8 | g.60852941C= | CA1788102929 | CHD7 | c.6216C= (p.Pro2072=) c.1717-9288C= (n.1717-9288C=) c.6306C= (p.Pro2102=) c.4293C= (p.Pro1431=) c.3843C= (p.Pro1281=) c.3051C= (p.Pro1017=) | |
| 8 | g.60852941C>G | CA223312 | CHD7 | c.6216C>G (p.Pro2072=) c.1717-9288C>G (n.1717-9288C>G) c.6306C>G (p.Pro2102=) c.4293C>G (p.Pro1431=) c.3843C>G (p.Pro1281=) c.3051C>G (p.Pro1017=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852941C>T | CA461105113 | CHD7 | c.6216C>T (p.Pro2072=) c.1717-9288C>T (n.1717-9288C>T) c.6306C>T (p.Pro2102=) c.4293C>T (p.Pro1431=) c.3843C>T (p.Pro1281=) c.3051C>T (p.Pro1017=) | dbSNP gnomAD v4 |
| 8 | g.60852942C>A | CA371324463 | CHD7 | c.6217C>A (p.Gln2073Lys) c.1717-9287C>A (n.1717-9287C>A) c.6307C>A (p.Gln2103Lys) c.4294C>A (p.Gln1432Lys) c.3844C>A (p.Gln1282Lys) c.3052C>A (p.Gln1018Lys) | |
| 8 | g.60852942C>G | CA371324462 | CHD7 | c.6217C>G (p.Gln2073Glu) c.1717-9287C>G (n.1717-9287C>G) c.6307C>G (p.Gln2103Glu) c.4294C>G (p.Gln1432Glu) c.3844C>G (p.Gln1282Glu) c.3052C>G (p.Gln1018Glu) | |
| 8 | g.60852942C>T | CA371324464 | CHD7 | c.6217C>T (p.Gln2073Ter) c.1717-9287C>T (n.1717-9287C>T) c.6307C>T (p.Gln2103Ter) c.4294C>T (p.Gln1432Ter) c.3844C>T (p.Gln1282Ter) c.3052C>T (p.Gln1018Ter) | ClinVar dbSNP |
| 8 | g.60852943A>C | CA371324465 | CHD7 | c.6218A>C (p.Gln2073Pro) c.1717-9286A>C (n.1717-9286A>C) c.6308A>C (p.Gln2103Pro) c.4295A>C (p.Gln1432Pro) c.3845A>C (p.Gln1282Pro) c.3053A>C (p.Gln1018Pro) | |
| 8 | g.60852943A>G | CA371324467 | CHD7 | c.6218A>G (p.Gln2073Arg) c.1717-9286A>G (n.1717-9286A>G) c.6308A>G (p.Gln2103Arg) c.4295A>G (p.Gln1432Arg) c.3845A>G (p.Gln1282Arg) c.3053A>G (p.Gln1018Arg) | gnomAD v4 |
| 8 | g.60852943A>T | CA371324466 | CHD7 | c.6218A>T (p.Gln2073Leu) c.1717-9286A>T (n.1717-9286A>T) c.6308A>T (p.Gln2103Leu) c.4295A>T (p.Gln1432Leu) c.3845A>T (p.Gln1282Leu) c.3053A>T (p.Gln1018Leu) | |
| 8 | g.60852944G>A | CA4760554 | CHD7 | c.6219G>A (p.Gln2073=) c.1717-9285G>A (n.1717-9285G>A) c.6309G>A (p.Gln2103=) c.4296G>A (p.Gln1432=) c.3846G>A (p.Gln1282=) c.3054G>A (p.Gln1018=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60852944G>C | CA371324468 | CHD7 | c.6219G>C (p.Gln2073His) c.1717-9285G>C (n.1717-9285G>C) c.6309G>C (p.Gln2103His) c.4296G>C (p.Gln1432His) c.3846G>C (p.Gln1282His) c.3054G>C (p.Gln1018His) | |
| 8 | g.60852944G= | CA1788102964 | CHD7 | c.6219G= (p.Gln2073=) c.1717-9285G= (n.1717-9285G=) c.6309G= (p.Gln2103=) c.4296G= (p.Gln1432=) c.3846G= (p.Gln1282=) c.3054G= (p.Gln1018=) | |
| 8 | g.60852944G>T | CA371324469 | CHD7 | c.6219G>T (p.Gln2073His) c.1717-9285G>T (n.1717-9285G>T) c.6309G>T (p.Gln2103His) c.4296G>T (p.Gln1432His) c.3846G>T (p.Gln1282His) c.3054G>T (p.Gln1018His) | |
| 8 | g.60852945C>A | CA177354047 | CHD7 | c.6220C>A (p.Leu2074Met) c.1717-9284C>A (n.1717-9284C>A) c.6310C>A (p.Leu2104Met) c.4297C>A (p.Leu1433Met) c.3847C>A (p.Leu1283Met) c.3055C>A (p.Leu1019Met) | dbSNP gnomAD v4 |
| 8 | g.60852945C= | CA1788102988 | CHD7 | c.6220C= (p.Leu2074=) c.1717-9284C= (n.1717-9284C=) c.6310C= (p.Leu2104=) c.4297C= (p.Leu1433=) c.3847C= (p.Leu1283=) c.3055C= (p.Leu1019=) | |
| 8 | g.60852945C>G | CA371324470 | CHD7 | c.6220C>G (p.Leu2074Val) c.1717-9284C>G (n.1717-9284C>G) c.6310C>G (p.Leu2104Val) c.4297C>G (p.Leu1433Val) c.3847C>G (p.Leu1283Val) c.3055C>G (p.Leu1019Val) | |
| 8 | g.60852945C>T | CA461105115 | CHD7 | c.6220C>T (p.Leu2074=) c.1717-9284C>T (n.1717-9284C>T) c.6310C>T (p.Leu2104=) c.4297C>T (p.Leu1433=) c.3847C>T (p.Leu1283=) c.3055C>T (p.Leu1019=) | |
| 8 | g.60852946T>A | CA371324471 | CHD7 | c.6221T>A (p.Leu2074Gln) c.1717-9283T>A (n.1717-9283T>A) c.6311T>A (p.Leu2104Gln) c.4298T>A (p.Leu1433Gln) c.3848T>A (p.Leu1283Gln) c.3056T>A (p.Leu1019Gln) | |
| 8 | g.60852946T>C | CA371324472 | CHD7 | c.6221T>C (p.Leu2074Pro) c.1717-9283T>C (n.1717-9283T>C) c.6311T>C (p.Leu2104Pro) c.4298T>C (p.Leu1433Pro) c.3848T>C (p.Leu1283Pro) c.3056T>C (p.Leu1019Pro) | |
| 8 | g.60852946T>G | CA371324473 | CHD7 | c.6221T>G (p.Leu2074Arg) c.1717-9283T>G (n.1717-9283T>G) c.6311T>G (p.Leu2104Arg) c.4298T>G (p.Leu1433Arg) c.3848T>G (p.Leu1283Arg) c.3056T>G (p.Leu1019Arg) | |
| 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=) | |
| 8 | g.60852961A>C | CA4760555 | CHD7 | c.6236A>C (p.Lys2079Thr) c.1717-9268A>C (n.1717-9268A>C) c.6326A>C (p.Lys2109Thr) c.4313A>C (p.Lys1438Thr) c.3863A>C (p.Lys1288Thr) c.3071A>C (p.Lys1024Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60852961A>G | CA371324503 | CHD7 | c.6236A>G (p.Lys2079Arg) c.1717-9268A>G (n.1717-9268A>G) c.6326A>G (p.Lys2109Arg) c.4313A>G (p.Lys1438Arg) c.3863A>G (p.Lys1288Arg) c.3071A>G (p.Lys1024Arg) | |
| 8 | g.60852961A>T | CA371324504 | CHD7 | c.6236A>T (p.Lys2079Met) c.1717-9268A>T (n.1717-9268A>T) c.6326A>T (p.Lys2109Met) c.4313A>T (p.Lys1438Met) c.3863A>T (p.Lys1288Met) c.3071A>T (p.Lys1024Met) | |
| 8 | g.60852962G>A | CA4760556 | CHD7 | c.6237G>A (p.Lys2079=) c.1717-9267G>A (n.1717-9267G>A) c.6327G>A (p.Lys2109=) c.4314G>A (p.Lys1438=) c.3864G>A (p.Lys1288=) c.3072G>A (p.Lys1024=) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.60852962G>C | CA371324506 | CHD7 | c.6237G>C (p.Lys2079Asn) c.1717-9267G>C (n.1717-9267G>C) c.6327G>C (p.Lys2109Asn) c.4314G>C (p.Lys1438Asn) c.3864G>C (p.Lys1288Asn) c.3072G>C (p.Lys1024Asn) | |
| 8 | g.60852962G= | CA1788103053 | CHD7 | c.6237G= (p.Lys2079=) c.1717-9267G= (n.1717-9267G=) c.6327G= (p.Lys2109=) c.4314G= (p.Lys1438=) c.3864G= (p.Lys1288=) c.3072G= (p.Lys1024=) | |
| 8 | g.60852962G>T | CA371324505 | CHD7 | c.6237G>T (p.Lys2079Asn) c.1717-9267G>T (n.1717-9267G>T) c.6327G>T (p.Lys2109Asn) c.4314G>T (p.Lys1438Asn) c.3864G>T (p.Lys1288Asn) c.3072G>T (p.Lys1024Asn) | dbSNP gnomAD v4 |
| 8 | g.60852963C>A | CA371324507 | CHD7 | c.6238C>A (p.Leu2080Ile) c.1717-9266C>A (n.1717-9266C>A) c.6328C>A (p.Leu2110Ile) c.4315C>A (p.Leu1439Ile) c.3865C>A (p.Leu1289Ile) c.3073C>A (p.Leu1025Ile) | |
| 8 | g.60852963C= | CA1788103060 | CHD7 | c.6238C= (p.Leu2080=) c.1717-9266C= (n.1717-9266C=) c.6328C= (p.Leu2110=) c.4315C= (p.Leu1439=) c.3865C= (p.Leu1289=) c.3073C= (p.Leu1025=) | |
| 8 | g.60852963C>G | CA371324508 | CHD7 | c.6238C>G (p.Leu2080Val) c.1717-9266C>G (n.1717-9266C>G) c.6328C>G (p.Leu2110Val) c.4315C>G (p.Leu1439Val) c.3865C>G (p.Leu1289Val) c.3073C>G (p.Leu1025Val) | dbSNP |
| 8 | g.60852963C>T | CA371324509 | CHD7 | c.6238C>T (p.Leu2080Phe) c.1717-9266C>T (n.1717-9266C>T) c.6328C>T (p.Leu2110Phe) c.4315C>T (p.Leu1439Phe) c.3865C>T (p.Leu1289Phe) c.3073C>T (p.Leu1025Phe) | |
| 8 | g.60852964T>A | CA371324510 | CHD7 | c.6239T>A (p.Leu2080His) c.1717-9265T>A (n.1717-9265T>A) c.6329T>A (p.Leu2110His) c.4316T>A (p.Leu1439His) c.3866T>A (p.Leu1289His) c.3074T>A (p.Leu1025His) | |
| 8 | g.60852964T>C | CA16618676 | CHD7 | c.6239T>C (p.Leu2080Pro) c.1717-9265T>C (n.1717-9265T>C) c.6329T>C (p.Leu2110Pro) c.4316T>C (p.Leu1439Pro) c.3866T>C (p.Leu1289Pro) c.3074T>C (p.Leu1025Pro) | ClinVar dbSNP |
| 8 | g.60852964T>G | CA371324511 | CHD7 | c.6239T>G (p.Leu2080Arg) c.1717-9265T>G (n.1717-9265T>G) c.6329T>G (p.Leu2110Arg) c.4316T>G (p.Leu1439Arg) c.3866T>G (p.Leu1289Arg) c.3074T>G (p.Leu1025Arg) | |
| 8 | g.60852964T= | CA1788103065 | CHD7 | c.6239T= (p.Leu2080=) c.1717-9265T= (n.1717-9265T=) c.6329T= (p.Leu2110=) c.4316T= (p.Leu1439=) c.3866T= (p.Leu1289=) c.3074T= (p.Leu1025=) |