Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.21393668T>A | CA388880351 | CHD8 | c.5290A>T (p.Met1764Leu) c.3827A>T c.6127A>T (p.Met2043Leu) n.5283A>T | gnomAD v4 |
14 | g.21393668T>C | CA388880350 | CHD8 | c.5290A>G (p.Met1764Val) c.3827A>G c.6127A>G (p.Met2043Val) n.5283A>G | |
14 | g.21393668T>G | CA388880349 | CHD8 | c.5290A>C (p.Met1764Leu) c.3827A>C c.6127A>C (p.Met2043Leu) n.5283A>C | |
14 | g.21393669C>A | CA388880352 | CHD8 | c.5289G>T (p.Glu1763Asp) c.3826G>T c.6126G>T (p.Glu2042Asp) n.5282G>T | |
14 | g.21393669C>G | CA388880353 | CHD8 | c.5289G>C (p.Glu1763Asp) c.3826G>C c.6126G>C (p.Glu2042Asp) n.5282G>C | |
14 | g.21393669C>T | CA484995118 | CHD8 | c.5289G>A (p.Glu1763=) c.3826G>A c.6126G>A (p.Glu2042=) n.5282G>A | gnomAD v4 COSMIC COSMIC |
14 | g.21393670T>A | CA388880354 | CHD8 | c.5288A>T (p.Glu1763Val) c.3825A>T c.6125A>T (p.Glu2042Val) n.5281A>T | |
14 | g.21393670T>C | CA388880355 | CHD8 | c.5288A>G (p.Glu1763Gly) c.3825A>G c.6125A>G (p.Glu2042Gly) n.5281A>G | |
14 | g.21393670T>G | CA388880356 | CHD8 | c.5288A>C (p.Glu1763Ala) c.3825A>C c.6125A>C (p.Glu2042Ala) n.5281A>C | |
14 | g.21393671C>A | CA388880357 | CHD8 | c.5287G>T (p.Glu1763Ter) c.3824G>T c.6124G>T (p.Glu2042Ter) n.5280G>T n.918G>T | dbSNP |
14 | g.21393671C= | CA2122506135 | CHD8 | c.5287G= (p.Glu1763=) c.3824G= c.6124G= (p.Glu2042=) n.5280G= n.918G= | |
14 | g.21393671C>G | CA388880358 | CHD8 | c.5287G>C (p.Glu1763Gln) c.3824G>C c.6124G>C (p.Glu2042Gln) n.5280G>C n.918G>C | |
14 | g.21393671C>T | CA388880359 | CHD8 | c.5287G>A (p.Glu1763Lys) c.3824G>A c.6124G>A (p.Glu2042Lys) n.5280G>A n.918G>A | |
14 | g.21393672A>C | CA388880360 | CHD8 | c.5286T>G (p.Tyr1762Ter) c.3823T>G c.6123T>G (p.Tyr2041Ter) n.5279T>G n.917T>G | gnomAD v4 |
14 | g.21393672A>G | CA484995121 | CHD8 | c.5286T>C (p.Tyr1762=) c.3823T>C c.6123T>C (p.Tyr2041=) n.5279T>C n.917T>C | |
14 | g.21393672A>T | CA388880361 | CHD8 | c.5286T>A (p.Tyr1762Ter) c.3823T>A c.6123T>A (p.Tyr2041Ter) n.5279T>A n.917T>A | |
14 | g.21393673_21393674del | CA2695219072 | CHD8 | c.5285_5286del (p.Tyr1762Ter) c.3822_3823del c.6122_6123del (p.Tyr2041Ter) n.5278_5279del n.916_917del | |
14 | g.21393673T>A | CA388880362 | CHD8 | c.5285A>T (p.Tyr1762Phe) c.3822A>T c.6122A>T (p.Tyr2041Phe) n.5278A>T n.916A>T | gnomAD v4 |
14 | g.21393673T>C | CA388880363 | CHD8 | c.5285A>G (p.Tyr1762Cys) c.3822A>G c.6122A>G (p.Tyr2041Cys) n.5278A>G n.916A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
14 | g.21393673T>G | CA388880364 | CHD8 | c.5285A>C (p.Tyr1762Ser) c.3822A>C c.6122A>C (p.Tyr2041Ser) n.5278A>C n.916A>C | gnomAD v4 |
14 | g.21393673T= | CA2122506137 | CHD8 | c.5285A= (p.Tyr1762=) c.3822A= c.6122A= (p.Tyr2041=) n.5278A= n.916A= | |
14 | g.21393674A= | CA2122506139 | CHD8 | c.5284T= (p.Tyr1762=) c.3821T= c.6121T= (p.Tyr2041=) n.5277T= n.915T= | |
14 | g.21393674A>C | CA388880366 | CHD8 | c.5284T>G (p.Tyr1762Asp) c.3821T>G c.6121T>G (p.Tyr2041Asp) n.5277T>G n.915T>G | |
14 | g.21393674A>G | CA388880367 | CHD8 | c.5284T>C (p.Tyr1762His) c.3821T>C c.6121T>C (p.Tyr2041His) n.5277T>C n.915T>C | dbSNP gnomAD v4 |
14 | g.21393674A>T | CA388880365 | CHD8 | c.5284T>A (p.Tyr1762Asn) c.3821T>A c.6121T>A (p.Tyr2041Asn) n.5277T>A n.915T>A | gnomAD v4 |
14 | g.21393675G>A | CA484995124 | CHD8 | c.5283C>T (p.Asp1761=) c.3820C>T c.6120C>T (p.Asp2040=) n.5276C>T n.914C>T | dbSNP |
14 | g.21393675G>C | CA388880368 | CHD8 | c.5283C>G (p.Asp1761Glu) c.3820C>G c.6120C>G (p.Asp2040Glu) n.5276C>G n.914C>G | gnomAD v4 |
14 | g.21393675G= | CA2122506141 | CHD8 | c.5283C= (p.Asp1761=) c.3820C= c.6120C= (p.Asp2040=) n.5276C= n.914C= | |
14 | g.21393675G>T | CA388880369 | CHD8 | c.5283C>A (p.Asp1761Glu) c.3820C>A c.6120C>A (p.Asp2040Glu) n.5276C>A n.914C>A | |
14 | g.21393676T>A | CA388880370 | CHD8 | c.5282A>T (p.Asp1761Val) c.3819A>T c.6119A>T (p.Asp2040Val) n.5275A>T n.913A>T | |
14 | g.21393676T>C | CA202496 | CHD8 | c.5282A>G (p.Asp1761Gly) c.3819A>G c.6119A>G (p.Asp2040Gly) n.5275A>G n.913A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393676T>G | CA388880371 | CHD8 | c.5282A>C (p.Asp1761Ala) c.3819A>C c.6119A>C (p.Asp2040Ala) n.5275A>C n.913A>C | |
14 | g.21393676T= | CA2122506144 | CHD8 | c.5282A= (p.Asp1761=) c.3819A= c.6119A= (p.Asp2040=) n.5275A= n.913A= | |
14 | g.21393677C>A | CA388880372 | CHD8 | c.5281G>T (p.Asp1761Tyr) c.3818G>T c.6118G>T (p.Asp2040Tyr) n.5274G>T n.912G>T | |
14 | g.21393677C= | CA2122506147 | CHD8 | c.5281G= (p.Asp1761=) c.3818G= c.6118G= (p.Asp2040=) n.5274G= n.912G= | |
14 | g.21393677C>G | CA388880373 | CHD8 | c.5281G>C (p.Asp1761His) c.3818G>C c.6118G>C (p.Asp2040His) n.5274G>C n.912G>C | |
14 | g.21393677C>T | CA7090837 | CHD8 | c.5281G>A (p.Asp1761Asn) c.3818G>A c.6118G>A (p.Asp2040Asn) n.5274G>A n.912G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393678T>A | CA388880374 | CHD8 | c.5280A>T (p.Gln1760His) c.3817A>T c.6117A>T (p.Gln2039His) n.5273A>T n.911A>T | |
14 | g.21393678T>C | CA484995132 | CHD8 | c.5280A>G (p.Gln1760=) c.3817A>G c.6117A>G (p.Gln2039=) n.5273A>G n.911A>G | |
14 | g.21393678T>G | CA388880375 | CHD8 | c.5280A>C (p.Gln1760His) c.3817A>C c.6117A>C (p.Gln2039His) n.5273A>C n.911A>C | |
14 | g.21393679T>A | CA7090838 | CHD8 | c.5279A>T (p.Gln1760Leu) c.3816A>T c.6116A>T (p.Gln2039Leu) n.5272A>T n.910A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393679T>C | CA388880376 | CHD8 | c.5279A>G (p.Gln1760Arg) c.3816A>G c.6116A>G (p.Gln2039Arg) n.5272A>G n.910A>G | gnomAD v4 |
14 | g.21393679T>G | CA388880377 | CHD8 | c.5279A>C (p.Gln1760Pro) c.3816A>C c.6116A>C (p.Gln2039Pro) n.5272A>C n.910A>C | |
14 | g.21393679T= | CA2122506149 | CHD8 | c.5279A= (p.Gln1760=) c.3816A= c.6116A= (p.Gln2039=) n.5272A= n.910A= | |
14 | g.21393680del | CA2695219073 | CHD8 | c.5278del (p.Gln1760LysfsTer?) c.3815del c.6115del (p.Gln2039LysfsTer?) n.5271del n.909del | |
14 | g.21393680G>A | CA388880380 | CHD8 | c.5278C>T (p.Gln1760Ter) c.3815C>T c.6115C>T (p.Gln2039Ter) n.5271C>T n.909C>T | dbSNP COSMIC COSMIC |
14 | g.21393680G>C | CA388880379 | CHD8 | c.5278C>G (p.Gln1760Glu) c.3815C>G c.6115C>G (p.Gln2039Glu) n.5271C>G n.909C>G | |
14 | g.21393680G= | CA2122506151 | CHD8 | c.5278C= (p.Gln1760=) c.3815C= c.6115C= (p.Gln2039=) n.5271C= n.909C= | |
14 | g.21393680G>T | CA388880378 | CHD8 | c.5278C>A (p.Gln1760Lys) c.3815C>A c.6115C>A (p.Gln2039Lys) n.5271C>A n.909C>A | |
14 | g.21393681T>A | CA7090839 | CHD8 | c.5277A>T (p.Pro1759=) c.3814A>T c.6114A>T (p.Pro2038=) n.5270A>T n.908A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393681T>C | CA484995135 | CHD8 | c.5277A>G (p.Pro1759=) c.3814A>G c.6114A>G (p.Pro2038=) n.5270A>G n.908A>G | dbSNP gnomAD v4 |
14 | g.21393681T>G | CA484995137 | CHD8 | c.5277A>C (p.Pro1759=) c.3814A>C c.6114A>C (p.Pro2038=) n.5270A>C n.908A>C | |
14 | g.21393681T= | CA2122506153 | CHD8 | c.5277A= (p.Pro1759=) c.3814A= c.6114A= (p.Pro2038=) n.5270A= n.908A= | |
14 | g.21393682G>A | CA388880381 | CHD8 | c.5276C>T (p.Pro1759Leu) c.3813C>T c.6113C>T (p.Pro2038Leu) n.5269C>T n.907C>T | |
14 | g.21393682G>C | CA388880382 | CHD8 | c.5276C>G (p.Pro1759Arg) c.3813C>G c.6113C>G (p.Pro2038Arg) n.5269C>G n.907C>G | |
14 | g.21393682G>T | CA388880383 | CHD8 | c.5276C>A (p.Pro1759Gln) c.3813C>A c.6113C>A (p.Pro2038Gln) n.5269C>A n.907C>A | |
14 | g.21393683G>A | CA388880384 | CHD8 | c.5275C>T (p.Pro1759Ser) c.3812C>T c.6112C>T (p.Pro2038Ser) n.5268C>T n.906C>T | |
14 | g.21393683G>C | CA388880385 | CHD8 | c.5275C>G (p.Pro1759Ala) c.3812C>G c.6112C>G (p.Pro2038Ala) n.5268C>G n.906C>G | |
14 | g.21393683G>T | CA388880386 | CHD8 | c.5275C>A (p.Pro1759Thr) c.3812C>A c.6112C>A (p.Pro2038Thr) n.5268C>A n.906C>A | COSMIC COSMIC |
14 | g.21393684G>A | CA484995140 | CHD8 | c.5274C>T (p.Thr1758=) c.3811C>T c.6111C>T (p.Thr2037=) n.5267C>T n.905C>T | |
14 | g.21393684G>C | CA484995141 | CHD8 | c.5274C>G (p.Thr1758=) c.3811C>G c.6111C>G (p.Thr2037=) n.5267C>G n.905C>G | |
14 | g.21393684G>T | CA484995142 | CHD8 | c.5274C>A (p.Thr1758=) c.3811C>A c.6111C>A (p.Thr2037=) n.5267C>A n.905C>A | |
14 | g.21393685G>A | CA388880387 | CHD8 | c.5273C>T (p.Thr1758Ile) c.3810C>T c.6110C>T (p.Thr2037Ile) n.5266C>T n.904C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393685G>C | CA388880388 | CHD8 | c.5273C>G (p.Thr1758Ser) c.3810C>G c.6110C>G (p.Thr2037Ser) n.5266C>G n.904C>G | |
14 | g.21393685G= | CA2122506155 | CHD8 | c.5273C= (p.Thr1758=) c.3810C= c.6110C= (p.Thr2037=) n.5266C= n.904C= | |
14 | g.21393685G>T | CA388880389 | CHD8 | c.5273C>A (p.Thr1758Asn) c.3810C>A c.6110C>A (p.Thr2037Asn) n.5266C>A n.904C>A | |
14 | g.21393686T>A | CA388880390 | CHD8 | c.5272A>T (p.Thr1758Ser) c.3809A>T c.6109A>T (p.Thr2037Ser) n.5265A>T n.903A>T | |
14 | g.21393686T>C | CA388880391 | CHD8 | c.5272A>G (p.Thr1758Ala) c.3809A>G c.6109A>G (p.Thr2037Ala) n.5265A>G n.903A>G | |
14 | g.21393686T>G | CA388880392 | CHD8 | c.5272A>C (p.Thr1758Pro) c.3809A>C c.6109A>C (p.Thr2037Pro) n.5265A>C n.903A>C | |
14 | g.21393687T>A | CA484995148 | CHD8 | c.5271A>T (p.Pro1757=) c.3808A>T c.6108A>T (p.Pro2036=) n.5264A>T n.902A>T | |
14 | g.21393687T>C | CA484995150 | CHD8 | c.5271A>G (p.Pro1757=) c.3808A>G c.6108A>G (p.Pro2036=) n.5264A>G n.902A>G | gnomAD v4 |
14 | g.21393687T>G | CA7090840 | CHD8 | c.5271A>C (p.Pro1757=) c.3808A>C c.6108A>C (p.Pro2036=) n.5264A>C n.902A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393687T= | CA2122506157 | CHD8 | c.5271A= (p.Pro1757=) c.3808A= c.6108A= (p.Pro2036=) n.5264A= n.902A= | |
14 | g.21393688G>A | CA388880394 | CHD8 | c.5270C>T (p.Pro1757Leu) c.3807C>T c.6107C>T (p.Pro2036Leu) n.5263C>T n.901C>T | gnomAD v4 |
14 | g.21393688G>C | CA257593148 | CHD8 | c.5270C>G (p.Pro1757Arg) c.3807C>G c.6107C>G (p.Pro2036Arg) n.5263C>G n.901C>G | ClinVar dbSNP gnomAD v4 |
14 | g.21393688G= | CA2122506159 | CHD8 | c.5270C= (p.Pro1757=) c.3807C= c.6107C= (p.Pro2036=) n.5263C= n.901C= | |
14 | g.21393688G>T | CA388880393 | CHD8 | c.5270C>A (p.Pro1757Gln) c.3807C>A c.6107C>A (p.Pro2036Gln) n.5263C>A n.901C>A | |
14 | g.21393689G>A | CA388880395 | CHD8 | c.5269C>T (p.Pro1757Ser) c.3806C>T c.6106C>T (p.Pro2036Ser) n.5262C>T n.900C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.21393689G>C | CA388880396 | CHD8 | c.5269C>G (p.Pro1757Ala) c.3806C>G c.6106C>G (p.Pro2036Ala) n.5262C>G n.900C>G | COSMIC COSMIC |
14 | g.21393689G= | CA2122506161 | CHD8 | c.5269C= (p.Pro1757=) c.3806C= c.6106C= (p.Pro2036=) n.5262C= n.900C= | |
14 | g.21393689G>T | CA388880397 | CHD8 | c.5269C>A (p.Pro1757Thr) c.3806C>A c.6106C>A (p.Pro2036Thr) n.5262C>A n.900C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393690T>A | CA484995156 | CHD8 | c.5268A>T (p.Arg1756=) c.3805A>T c.6105A>T (p.Arg2035=) n.5261A>T n.899A>T | |
14 | g.21393690T>C | CA484995157 | CHD8 | c.5268A>G (p.Arg1756=) c.3805A>G c.6105A>G (p.Arg2035=) n.5261A>G n.899A>G | |
14 | g.21393690T>G | CA484995160 | CHD8 | c.5268A>C (p.Arg1756=) c.3805A>C c.6105A>C (p.Arg2035=) n.5261A>C n.899A>C | |
14 | g.21393691C>A | CA388880398 | CHD8 | c.5267G>T (p.Arg1756Leu) c.3804G>T c.6104G>T (p.Arg2035Leu) n.5260G>T n.898G>T | |
14 | g.21393691C= | CA2122506164 | CHD8 | c.5267G= (p.Arg1756=) c.3804G= c.6104G= (p.Arg2035=) n.5260G= n.898G= | |
14 | g.21393691C>G | CA388880399 | CHD8 | c.5267G>C (p.Arg1756Pro) c.3804G>C c.6104G>C (p.Arg2035Pro) n.5260G>C n.898G>C | |
14 | g.21393691C>T | CA257593154 | CHD8 | c.5267G>A (p.Arg1756Gln) c.3804G>A c.6104G>A (p.Arg2035Gln) n.5260G>A n.898G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.21393692G>A | CA388880400 | CHD8 | c.5266C>T (p.Arg1756Ter) c.3803C>T c.6103C>T (p.Arg2035Ter) n.5259C>T n.897C>T | ClinVar dbSNP |
14 | g.21393692G>C | CA388880401 | CHD8 | c.5266C>G (p.Arg1756Gly) c.3803C>G c.6103C>G (p.Arg2035Gly) n.5259C>G n.897C>G | |
14 | g.21393692G= | CA2122506165 | CHD8 | c.5266C= (p.Arg1756=) c.3803C= c.6103C= (p.Arg2035=) n.5259C= n.897C= | |
14 | g.21393692G>T | CA484995164 | CHD8 | c.5266C>A (p.Arg1756=) c.3803C>A c.6103C>A (p.Arg2035=) n.5259C>A n.897C>A | |
14 | g.21393693G>A | CA484995167 | CHD8 | c.5265C>T (p.Ser1755=) c.3802C>T c.6102C>T (p.Ser2034=) n.5258C>T n.896C>T | |
14 | g.21393693G>C | CA388880402 | CHD8 | c.5265C>G (p.Ser1755Arg) c.3802C>G c.6102C>G (p.Ser2034Arg) n.5258C>G n.896C>G | |
14 | g.21393693G>T | CA388880403 | CHD8 | c.5265C>A (p.Ser1755Arg) c.3802C>A c.6102C>A (p.Ser2034Arg) n.5258C>A n.896C>A | |
14 | g.21393694C>A | CA388880404 | CHD8 | c.5264G>T (p.Ser1755Ile) c.3801G>T c.6101G>T (p.Ser2034Ile) n.5257G>T n.895G>T | |
14 | g.21393694C>G | CA388880405 | CHD8 | c.5264G>C (p.Ser1755Thr) c.3801G>C c.6101G>C (p.Ser2034Thr) n.5257G>C n.895G>C | |
14 | g.21393694C>T | CA388880406 | CHD8 | c.5264G>A (p.Ser1755Asn) c.3801G>A c.6101G>A (p.Ser2034Asn) n.5257G>A n.895G>A | |
14 | g.21393695T>A | CA388880409 | CHD8 | c.5263A>T (p.Ser1755Cys) c.3800A>T c.6100A>T (p.Ser2034Cys) n.5256A>T n.894A>T | |
14 | g.21393695T>C | CA388880408 | CHD8 | c.5263A>G (p.Ser1755Gly) c.3800A>G c.6100A>G (p.Ser2034Gly) n.5256A>G n.894A>G | |
14 | g.21393695T>G | CA388880407 | CHD8 | c.5263A>C (p.Ser1755Arg) c.3800A>C c.6100A>C (p.Ser2034Arg) n.5256A>C n.894A>C | |
14 | g.21393696C>A | CA388880410 | CHD8 | c.5262G>T (p.Arg1754Ser) c.3799G>T c.6099G>T (p.Arg2033Ser) n.5255G>T n.893G>T | |
14 | g.21393696C>G | CA388880411 | CHD8 | c.5262G>C (p.Arg1754Ser) c.3799G>C c.6099G>C (p.Arg2033Ser) n.5255G>C n.893G>C | |
14 | g.21393696C>T | CA484995170 | CHD8 | c.5262G>A (p.Arg1754=) c.3799G>A c.6099G>A (p.Arg2033=) n.5255G>A n.893G>A | ClinVar |
14 | g.21393697C>A | CA388880412 | CHD8 | c.5261G>T (p.Arg1754Met) c.3798G>T c.6098G>T (p.Arg2033Met) n.5254G>T n.892G>T | |
14 | g.21393697C>G | CA388880413 | CHD8 | c.5261G>C (p.Arg1754Thr) c.3798G>C c.6098G>C (p.Arg2033Thr) n.5254G>C n.892G>C | |
14 | g.21393697C>T | CA388880414 | CHD8 | c.5261G>A (p.Arg1754Lys) c.3798G>A c.6098G>A (p.Arg2033Lys) n.5254G>A n.892G>A | gnomAD v4 |
14 | g.21393698T>A | CA388880415 | CHD8 | c.5260A>T (p.Arg1754Trp) c.3797A>T c.6097A>T (p.Arg2033Trp) n.5253A>T n.891A>T | |
14 | g.21393698T>C | CA388880416 | CHD8 | c.5260A>G (p.Arg1754Gly) c.3797A>G c.6097A>G (p.Arg2033Gly) n.5253A>G n.891A>G | |
14 | g.21393698T>G | CA484995172 | CHD8 | c.5260A>C (p.Arg1754=) c.3797A>C c.6097A>C (p.Arg2033=) n.5253A>C n.891A>C | |
14 | g.21393699G>A | CA484995176 | CHD8 | c.5259C>T (p.Ala1753=) c.3796C>T c.6096C>T (p.Ala2032=) n.5252C>T n.890C>T | |
14 | g.21393699G>C | CA484995178 | CHD8 | c.5259C>G (p.Ala1753=) c.3796C>G c.6096C>G (p.Ala2032=) n.5252C>G n.890C>G | |
14 | g.21393699G>T | CA484995179 | CHD8 | c.5259C>A (p.Ala1753=) c.3796C>A c.6096C>A (p.Ala2032=) n.5252C>A n.890C>A | |
14 | g.21393700G>A | CA388880417 | CHD8 | c.5258C>T (p.Ala1753Val) c.3795C>T c.6095C>T (p.Ala2032Val) n.5251C>T n.889C>T | |
14 | g.21393700G>C | CA388880418 | CHD8 | c.5258C>G (p.Ala1753Gly) c.3795C>G c.6095C>G (p.Ala2032Gly) n.5251C>G n.889C>G | |
14 | g.21393700G>T | CA388880419 | CHD8 | c.5258C>A (p.Ala1753Asp) c.3795C>A c.6095C>A (p.Ala2032Asp) n.5251C>A n.889C>A | |
14 | g.21393701C>A | CA388880420 | CHD8 | c.5257G>T (p.Ala1753Ser) c.3794G>T c.6094G>T (p.Ala2032Ser) n.5250G>T n.888G>T | |
14 | g.21393701C= | CA2122484022 | CHD8 | c.5257G= (p.Ala1753=) c.3794G= c.6094G= (p.Ala2032=) n.5250G= n.888G= | |
14 | g.21393701C>G | CA388880421 | CHD8 | c.5257G>C (p.Ala1753Pro) c.3794G>C c.6094G>C (p.Ala2032Pro) n.5250G>C n.888G>C | |
14 | g.21393701C>T | CA388880422 | CHD8 | c.5257G>A (p.Ala1753Thr) c.3794G>A c.6094G>A (p.Ala2032Thr) n.5250G>A n.888G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393702C>A | CA484995185 | CHD8 | c.5256G>T (p.Val1752=) c.3793G>T c.6093G>T (p.Val2031=) n.5249G>T n.887G>T | |
14 | g.21393702C= | CA2122484038 | CHD8 | c.5256G= (p.Val1752=) c.3793G= c.6093G= (p.Val2031=) n.5249G= n.887G= | |
14 | g.21393702C>G | CA484995189 | CHD8 | c.5256G>C (p.Val1752=) c.3793G>C c.6093G>C (p.Val2031=) n.5249G>C n.887G>C | |
14 | g.21393702C>T | CA484995187 | CHD8 | c.5256G>A (p.Val1752=) c.3793G>A c.6093G>A (p.Val2031=) n.5249G>A n.887G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393703A>C | CA388880425 | CHD8 | c.5255T>G (p.Val1752Gly) c.3792T>G c.6092T>G (p.Val2031Gly) n.5248T>G n.886T>G | |
14 | g.21393703A>G | CA388880424 | CHD8 | c.5255T>C (p.Val1752Ala) c.3792T>C c.6092T>C (p.Val2031Ala) n.5248T>C n.886T>C | |
14 | g.21393703A>T | CA388880423 | CHD8 | c.5255T>A (p.Val1752Glu) c.3792T>A c.6092T>A (p.Val2031Glu) n.5248T>A n.886T>A | |
14 | g.21393704C>A | CA388880426 | CHD8 | c.5254G>T (p.Val1752Leu) c.3791G>T c.6091G>T (p.Val2031Leu) n.5247G>T n.885G>T | gnomAD v4 |
14 | g.21393704C>G | CA388880427 | CHD8 | c.5254G>C (p.Val1752Leu) c.3791G>C c.6091G>C (p.Val2031Leu) n.5247G>C n.885G>C | |
14 | g.21393704C>T | CA388880428 | CHD8 | c.5254G>A (p.Val1752Met) c.3791G>A c.6091G>A (p.Val2031Met) n.5247G>A n.885G>A | gnomAD v4 |
14 | g.21393705C>A | CA484995196 | CHD8 | c.5253G>T (p.Val1751=) c.3790G>T c.6090G>T (p.Val2030=) n.5246G>T n.884G>T | |
14 | g.21393705C>G | CA484995191 | CHD8 | c.5253G>C (p.Val1751=) c.3790G>C c.6090G>C (p.Val2030=) n.5246G>C n.884G>C | |
14 | g.21393705C>T | CA484995194 | CHD8 | c.5253G>A (p.Val1751=) c.3790G>A c.6090G>A (p.Val2030=) n.5246G>A n.884G>A | |
14 | g.21393706A>C | CA388880429 | CHD8 | c.5252T>G (p.Val1751Gly) c.3789T>G c.6089T>G (p.Val2030Gly) n.5245T>G n.883T>G | |
14 | g.21393706A>G | CA388880430 | CHD8 | c.5252T>C (p.Val1751Ala) c.3789T>C c.6089T>C (p.Val2030Ala) n.5245T>C n.883T>C | |
14 | g.21393706A>T | CA388880431 | CHD8 | c.5252T>A (p.Val1751Glu) c.3789T>A c.6089T>A (p.Val2030Glu) n.5245T>A n.883T>A | |
14 | g.21393707C>A | CA388880432 | CHD8 | c.5251G>T (p.Val1751Leu) c.3788G>T c.6088G>T (p.Val2030Leu) n.5244G>T n.882G>T | |
14 | g.21393707C= | CA2122484045 | CHD8 | c.5251G= (p.Val1751=) c.3788G= c.6088G= (p.Val2030=) n.5244G= n.882G= | |
14 | g.21393707C>G | CA7090841 | CHD8 | c.5251G>C (p.Val1751Leu) c.3788G>C c.6088G>C (p.Val2030Leu) n.5244G>C n.882G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393707C>T | CA388880433 | CHD8 | c.5251G>A (p.Val1751Met) c.3788G>A c.6088G>A (p.Val2030Met) n.5244G>A n.882G>A | |
14 | g.21393708C>A | CA388880434 | CHD8 | c.5250G>T (p.Glu1750Asp) c.3787G>T c.6087G>T (p.Glu2029Asp) n.5243G>T n.881G>T | gnomAD v4 |
14 | g.21393708C>G | CA388880435 | CHD8 | c.5250G>C (p.Glu1750Asp) c.3787G>C c.6087G>C (p.Glu2029Asp) n.5243G>C n.881G>C | |
14 | g.21393708C>T | CA484995202 | CHD8 | c.5250G>A (p.Glu1750=) c.3787G>A c.6087G>A (p.Glu2029=) n.5243G>A n.881G>A | gnomAD v4 |
14 | g.21393709T>A | CA388880436 | CHD8 | c.5249A>T (p.Glu1750Val) c.3786A>T c.6086A>T (p.Glu2029Val) n.5242A>T n.880A>T | |
14 | g.21393709T>C | CA388880437 | CHD8 | c.5249A>G (p.Glu1750Gly) c.3786A>G c.6086A>G (p.Glu2029Gly) n.5242A>G n.880A>G | |
14 | g.21393709T>G | CA388880438 | CHD8 | c.5249A>C (p.Glu1750Ala) c.3786A>C c.6086A>C (p.Glu2029Ala) n.5242A>C n.880A>C | |
14 | g.21393710C>A | CA388880440 | CHD8 | c.5248G>T (p.Glu1750Ter) c.3785G>T c.6085G>T (p.Glu2029Ter) n.5241G>T n.879G>T | dbSNP |
14 | g.21393710C= | CA2122484061 | CHD8 | c.5248G= (p.Glu1750=) c.3785G= c.6085G= (p.Glu2029=) n.5241G= n.879G= | |
14 | g.21393710C>G | CA388880439 | CHD8 | c.5248G>C (p.Glu1750Gln) c.3785G>C c.6085G>C (p.Glu2029Gln) n.5241G>C n.879G>C | |
14 | g.21393710C>T | CA243736 | CHD8 | c.5248G>A (p.Glu1750Lys) c.3785G>A c.6085G>A (p.Glu2029Lys) n.5241G>A n.879G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393711G>A | CA7090842 | CHD8 | c.5247C>T (p.His1749=) c.3784C>T c.6084C>T (p.His2028=) n.5240C>T n.878C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393711G>C | CA388880441 | CHD8 | c.5247C>G (p.His1749Gln) c.3784C>G c.6084C>G (p.His2028Gln) n.5240C>G n.878C>G | |
14 | g.21393711G= | CA2122484063 | CHD8 | c.5247C= (p.His1749=) c.3784C= c.6084C= (p.His2028=) n.5240C= n.878C= | |
14 | g.21393711G>T | CA388880442 | CHD8 | c.5247C>A (p.His1749Gln) c.3784C>A c.6084C>A (p.His2028Gln) n.5240C>A n.878C>A | |
14 | g.21393712T>A | CA388880443 | CHD8 | c.5246A>T (p.His1749Leu) c.3783A>T c.6083A>T (p.His2028Leu) n.5239A>T n.877A>T | |
14 | g.21393712T>C | CA388880444 | CHD8 | c.5246A>G (p.His1749Arg) c.3783A>G c.6083A>G (p.His2028Arg) n.5239A>G n.877A>G | |
14 | g.21393712T>G | CA388880445 | CHD8 | c.5246A>C (p.His1749Pro) c.3783A>C c.6083A>C (p.His2028Pro) n.5239A>C n.877A>C | |
14 | g.21393713G>A | CA388880446 | CHD8 | c.5245C>T (p.His1749Tyr) c.3782C>T c.6082C>T (p.His2028Tyr) n.5238C>T n.876C>T | gnomAD v4 |
14 | g.21393713G>C | CA388880447 | CHD8 | c.5245C>G (p.His1749Asp) c.3782C>G c.6082C>G (p.His2028Asp) n.5238C>G n.876C>G | |
14 | g.21393713G>T | CA388880448 | CHD8 | c.5245C>A (p.His1749Asn) c.3782C>A c.6082C>A (p.His2028Asn) n.5238C>A n.876C>A | |
14 | g.21393714C>A | CA388880449 | CHD8 | c.5244G>T (p.Glu1748Asp) c.3781G>T c.6081G>T (p.Glu2027Asp) n.5237G>T n.875G>T | |
14 | g.21393714C>G | CA388880450 | CHD8 | c.5244G>C (p.Glu1748Asp) c.3781G>C c.6081G>C (p.Glu2027Asp) n.5237G>C n.875G>C | |
14 | g.21393714C>T | CA484995216 | CHD8 | c.5244G>A (p.Glu1748=) c.3781G>A c.6081G>A (p.Glu2027=) n.5237G>A n.875G>A | ClinVar |
14 | g.21393715T>A | CA388880451 | CHD8 | c.5243A>T (p.Glu1748Val) c.3780A>T c.6080A>T (p.Glu2027Val) n.5236A>T n.874A>T | |
14 | g.21393715T>C | CA388880452 | CHD8 | c.5243A>G (p.Glu1748Gly) c.3780A>G c.6080A>G (p.Glu2027Gly) n.5236A>G n.874A>G | |
14 | g.21393715T>G | CA388880453 | CHD8 | c.5243A>C (p.Glu1748Ala) c.3780A>C c.6080A>C (p.Glu2027Ala) n.5236A>C n.874A>C | |
14 | g.21393716C>A | CA388880455 | CHD8 | c.5242G>T (p.Glu1748Ter) c.3779G>T c.6079G>T (p.Glu2027Ter) n.5235G>T n.873G>T | dbSNP |
14 | g.21393716C= | CA2122484068 | CHD8 | c.5242G= (p.Glu1748=) c.3779G= c.6079G= (p.Glu2027=) n.5235G= n.873G= | |
14 | g.21393716C>G | CA388880456 | CHD8 | c.5242G>C (p.Glu1748Gln) c.3779G>C c.6079G>C (p.Glu2027Gln) n.5235G>C n.873G>C | |
14 | g.21393716C>T | CA388880454 | CHD8 | c.5242G>A (p.Glu1748Lys) c.3779G>A c.6079G>A (p.Glu2027Lys) n.5235G>A n.873G>A | |
14 | g.21393717T>A | CA484995223 | CHD8 | c.5241A>T (p.Leu1747=) c.3778A>T c.6078A>T (p.Leu2026=) n.5234A>T n.872A>T | |
14 | g.21393717T>C | CA484995224 | CHD8 | c.5241A>G (p.Leu1747=) c.3778A>G c.6078A>G (p.Leu2026=) n.5234A>G n.872A>G | |
14 | g.21393717T>G | CA484995229 | CHD8 | c.5241A>C (p.Leu1747=) c.3778A>C c.6078A>C (p.Leu2026=) n.5234A>C n.872A>C | |
14 | g.21393719_21393724del | CA2624078745 | CHD8 | c.5236_5241del (p.Lys1746_Leu1747del) c.3773_3778del c.6073_6078del (p.Lys2025_Leu2026del) n.5229_5234del n.867_872del | gnomAD v4 |
14 | g.21393718A>C | CA388880457 | CHD8 | c.5240T>G (p.Leu1747Arg) c.3777T>G c.6077T>G (p.Leu2026Arg) n.5233T>G n.871T>G | |
14 | g.21393718A>G | CA388880458 | CHD8 | c.5240T>C (p.Leu1747Pro) c.3777T>C c.6077T>C (p.Leu2026Pro) n.5233T>C n.871T>C | ClinVar |
14 | g.21393718A>T | CA388880459 | CHD8 | c.5240T>A (p.Leu1747Gln) c.3777T>A c.6077T>A (p.Leu2026Gln) n.5233T>A n.871T>A | |
14 | g.21393719G>A | CA484995231 | CHD8 | c.5239C>T (p.Leu1747=) c.3776C>T c.6076C>T (p.Leu2026=) n.5232C>T n.870C>T | |
14 | g.21393719G>C | CA388880460 | CHD8 | c.5239C>G (p.Leu1747Val) c.3776C>G c.6076C>G (p.Leu2026Val) n.5232C>G n.870C>G | |
14 | g.21393719G>T | CA388880461 | CHD8 | c.5239C>A (p.Leu1747Ile) c.3776C>A c.6076C>A (p.Leu2026Ile) n.5232C>A n.870C>A | |
14 | g.21393720C>A | CA388880462 | CHD8 | c.5238G>T (p.Lys1746Asn) c.3775G>T c.6075G>T (p.Lys2025Asn) n.5231G>T n.869G>T | |
14 | g.21393720C>G | CA388880463 | CHD8 | c.5238G>C (p.Lys1746Asn) c.3775G>C c.6075G>C (p.Lys2025Asn) n.5231G>C n.869G>C | |
14 | g.21393720C>T | CA484995233 | CHD8 | c.5238G>A (p.Lys1746=) c.3775G>A c.6075G>A (p.Lys2025=) n.5231G>A n.869G>A | |
14 | g.21393721T>A | CA388880464 | CHD8 | c.5237A>T (p.Lys1746Met) c.3774A>T c.6074A>T (p.Lys2025Met) n.5230A>T n.868A>T | |
14 | g.21393721T>C | CA388880465 | CHD8 | c.5237A>G (p.Lys1746Arg) c.3774A>G c.6074A>G (p.Lys2025Arg) n.5230A>G n.868A>G | |
14 | g.21393721T>G | CA388880466 | CHD8 | c.5237A>C (p.Lys1746Thr) c.3774A>C c.6074A>C (p.Lys2025Thr) n.5230A>C n.868A>C | |
14 | g.21393722T>A | CA388880467 | CHD8 | c.5236A>T (p.Lys1746Ter) c.3773A>T c.6073A>T (p.Lys2025Ter) n.5229A>T n.867A>T | dbSNP |
14 | g.21393722T>C | CA388880468 | CHD8 | c.5236A>G (p.Lys1746Glu) c.3773A>G c.6073A>G (p.Lys2025Glu) n.5229A>G n.867A>G | |
14 | g.21393722T>G | CA388880469 | CHD8 | c.5236A>C (p.Lys1746Gln) c.3773A>C c.6073A>C (p.Lys2025Gln) n.5229A>C n.867A>C | |
14 | g.21393722T= | CA2122484072 | CHD8 | c.5236A= (p.Lys1746=) c.3773A= c.6073A= (p.Lys2025=) n.5229A= n.867A= | |
14 | g.21393723T>A | CA388880471 | CHD8 | c.5235A>T (p.Leu1745Phe) c.3772A>T c.6072A>T (p.Leu2024Phe) n.5228A>T n.866A>T | |
14 | g.21393723T>C | CA484995237 | CHD8 | c.5235A>G (p.Leu1745=) c.3772A>G c.6072A>G (p.Leu2024=) n.5228A>G n.866A>G | gnomAD v4 |
14 | g.21393723T>G | CA388880470 | CHD8 | c.5235A>C (p.Leu1745Phe) c.3772A>C c.6072A>C (p.Leu2024Phe) n.5228A>C n.866A>C | |
14 | g.21393724A= | CA2122484082 | CHD8 | c.5234T= (p.Leu1745=) c.3771T= c.6071T= (p.Leu2024=) n.5227T= n.865T= | |
14 | g.21393724A>C | CA388880472 | CHD8 | c.5234T>G (p.Leu1745Ter) c.3771T>G c.6071T>G (p.Leu2024Ter) n.5227T>G n.865T>G | |
14 | g.21393724A>G | CA388880473 | CHD8 | c.5234T>C (p.Leu1745Ser) c.3771T>C c.6071T>C (p.Leu2024Ser) n.5227T>C n.865T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393724A>T | CA388880474 | CHD8 | c.5234T>A (p.Leu1745Ter) c.3771T>A c.6071T>A (p.Leu2024Ter) n.5227T>A n.865T>A | |
14 | g.21393725A>C | CA388880475 | CHD8 | c.5233T>G (p.Leu1745Val) c.3770T>G c.6070T>G (p.Leu2024Val) n.5226T>G n.864T>G | |
14 | g.21393725A>G | CA484995240 | CHD8 | c.5233T>C (p.Leu1745=) c.3770T>C c.6070T>C (p.Leu2024=) n.5226T>C n.864T>C | |
14 | g.21393725A>T | CA388880476 | CHD8 | c.5233T>A (p.Leu1745Ile) c.3770T>A c.6070T>A (p.Leu2024Ile) n.5226T>A n.864T>A | |
14 | g.21393726A>C | CA484995246 | CHD8 | c.5232T>G (p.Thr1744=) c.3769T>G c.6069T>G (p.Thr2023=) n.5225T>G n.863T>G | |
14 | g.21393726A>G | CA484995248 | CHD8 | c.5232T>C (p.Thr1744=) c.3769T>C c.6069T>C (p.Thr2023=) n.5225T>C n.863T>C | |
14 | g.21393726A>T | CA484995247 | CHD8 | c.5232T>A (p.Thr1744=) c.3769T>A c.6069T>A (p.Thr2023=) n.5225T>A n.863T>A | gnomAD v4 |
14 | g.21393727G>A | CA388880477 | CHD8 | c.5231C>T (p.Thr1744Ile) c.3768C>T c.6068C>T (p.Thr2023Ile) n.5224C>T n.862C>T | COSMIC COSMIC |
14 | g.21393727G>C | CA388880478 | CHD8 | c.5231C>G (p.Thr1744Ser) c.3768C>G c.6068C>G (p.Thr2023Ser) n.5224C>G n.862C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393727G= | CA2122484090 | CHD8 | c.5231C= (p.Thr1744=) c.3768C= c.6068C= (p.Thr2023=) n.5224C= n.862C= | |
14 | g.21393727G>T | CA388880479 | CHD8 | c.5231C>A (p.Thr1744Asn) c.3768C>A c.6068C>A (p.Thr2023Asn) n.5224C>A n.862C>A | |
14 | g.21393728T>A | CA388880480 | CHD8 | c.5230A>T (p.Thr1744Ser) c.3767A>T c.6067A>T (p.Thr2023Ser) n.5223A>T n.861A>T | gnomAD v4 |
14 | g.21393728T>C | CA388880481 | CHD8 | c.5230A>G (p.Thr1744Ala) c.3767A>G c.6067A>G (p.Thr2023Ala) n.5223A>G n.861A>G | |
14 | g.21393728T>G | CA388880482 | CHD8 | c.5230A>C (p.Thr1744Pro) c.3767A>C c.6067A>C (p.Thr2023Pro) n.5223A>C n.861A>C | |
14 | g.21393729C>A | CA484995267 | CHD8 | c.5229G>T (p.Leu1743=) c.3766G>T c.6066G>T (p.Leu2022=) n.5222G>T n.860G>T | |
14 | g.21393729C= | CA2122484094 | CHD8 | c.5229G= (p.Leu1743=) c.3766G= c.6066G= (p.Leu2022=) n.5222G= n.860G= | |
14 | g.21393729C>G | CA7090843 | CHD8 | c.5229G>C (p.Leu1743=) c.3766G>C c.6066G>C (p.Leu2022=) n.5222G>C n.860G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393729C>T | CA484995264 | CHD8 | c.5229G>A (p.Leu1743=) c.3766G>A c.6066G>A (p.Leu2022=) n.5222G>A n.860G>A | |
14 | g.21393730A>C | CA388880485 | CHD8 | c.5228T>G (p.Leu1743Arg) c.3765T>G c.6065T>G (p.Leu2022Arg) n.5221T>G n.859T>G | gnomAD v4 |
14 | g.21393730A>G | CA388880483 | CHD8 | c.5228T>C (p.Leu1743Pro) c.3765T>C c.6065T>C (p.Leu2022Pro) n.5221T>C n.859T>C | |
14 | g.21393730A>T | CA388880484 | CHD8 | c.5228T>A (p.Leu1743Gln) c.3765T>A c.6065T>A (p.Leu2022Gln) n.5221T>A n.859T>A | |
14 | g.21393731G>A | CA484995274 | CHD8 | c.5227C>T (p.Leu1743=) c.3764C>T c.6064C>T (p.Leu2022=) n.5220C>T n.858C>T | |
14 | g.21393731G>C | CA388880486 | CHD8 | c.5227C>G (p.Leu1743Val) c.3764C>G c.6064C>G (p.Leu2022Val) n.5220C>G n.858C>G | |
14 | g.21393731G>T | CA388880487 | CHD8 | c.5227C>A (p.Leu1743Met) c.3764C>A c.6064C>A (p.Leu2022Met) n.5220C>A n.858C>A | |
14 | g.21393732A>C | CA388880488 | CHD8 | c.5226T>G (p.Ser1742Arg) c.3763T>G c.6063T>G (p.Ser2021Arg) n.5219T>G n.857T>G | |
14 | g.21393732A>G | CA484995283 | CHD8 | c.5226T>C (p.Ser1742=) c.3763T>C c.6063T>C (p.Ser2021=) n.5219T>C n.857T>C | |
14 | g.21393732A>T | CA388880489 | CHD8 | c.5226T>A (p.Ser1742Arg) c.3763T>A c.6063T>A (p.Ser2021Arg) n.5219T>A n.857T>A | |
14 | g.21393733C>A | CA388880490 | CHD8 | c.5225G>T (p.Ser1742Ile) c.3762G>T c.6062G>T (p.Ser2021Ile) n.5218G>T n.856G>T | |
14 | g.21393733C= | CA2122484097 | CHD8 | c.5225G= (p.Ser1742=) c.3762G= c.6062G= (p.Ser2021=) n.5218G= n.856G= | |
14 | g.21393733C>G | CA388880491 | CHD8 | c.5225G>C (p.Ser1742Thr) c.3762G>C c.6062G>C (p.Ser2021Thr) n.5218G>C n.856G>C | ClinVar dbSNP |
14 | g.21393733C>T | CA7090844 | CHD8 | c.5225G>A (p.Ser1742Asn) c.3762G>A c.6062G>A (p.Ser2021Asn) n.5218G>A n.856G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393734T>A | CA388880492 | CHD8 | c.5224A>T (p.Ser1742Cys) c.3761A>T c.6061A>T (p.Ser2021Cys) n.5217A>T n.855A>T | |
14 | g.21393734T>C | CA388880493 | CHD8 | c.5224A>G (p.Ser1742Gly) c.3761A>G c.6061A>G (p.Ser2021Gly) n.5217A>G n.855A>G | |
14 | g.21393734T>G | CA388880494 | CHD8 | c.5224A>C (p.Ser1742Arg) c.3761A>C c.6061A>C (p.Ser2021Arg) n.5217A>C n.855A>C | |
14 | g.21393735C>A | CA257593188 | CHD8 | c.5223G>T (p.Glu1741Asp) c.3760G>T c.6060G>T (p.Glu2020Asp) n.5216G>T n.854G>T | dbSNP |
14 | g.21393735C= | CA2122484102 | CHD8 | c.5223G= (p.Glu1741=) c.3760G= c.6060G= (p.Glu2020=) n.5216G= n.854G= | |
14 | g.21393735C>G | CA388880495 | CHD8 | c.5223G>C (p.Glu1741Asp) c.3760G>C c.6060G>C (p.Glu2020Asp) n.5216G>C n.854G>C | ClinVar |
14 | g.21393735C>T | CA484995300 | CHD8 | c.5223G>A (p.Glu1741=) c.3760G>A c.6060G>A (p.Glu2020=) n.5216G>A n.854G>A | |
14 | g.21393736T>A | CA388880496 | CHD8 | c.5222A>T (p.Glu1741Val) c.3759A>T c.6059A>T (p.Glu2020Val) n.5215A>T n.853A>T | |
14 | g.21393736T>C | CA388880497 | CHD8 | c.5222A>G (p.Glu1741Gly) c.3759A>G c.6059A>G (p.Glu2020Gly) n.5215A>G n.853A>G | gnomAD v4 |
14 | g.21393736T>G | CA388880498 | CHD8 | c.5222A>C (p.Glu1741Ala) c.3759A>C c.6059A>C (p.Glu2020Ala) n.5215A>C n.853A>C | |
14 | g.21393737C>A | CA388880499 | CHD8 | c.5221G>T (p.Glu1741Ter) c.3758G>T c.6058G>T (p.Glu2020Ter) n.5214G>T n.852G>T | dbSNP |
14 | g.21393737C= | CA2122484107 | CHD8 | c.5221G= (p.Glu1741=) c.3758G= c.6058G= (p.Glu2020=) n.5214G= n.852G= | |
14 | g.21393737C>G | CA388880501 | CHD8 | c.5221G>C (p.Glu1741Gln) c.3758G>C c.6058G>C (p.Glu2020Gln) n.5214G>C n.852G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393737C>T | CA388880500 | CHD8 | c.5221G>A (p.Glu1741Lys) c.3758G>A c.6058G>A (p.Glu2020Lys) n.5214G>A n.852G>A | |
14 | g.21393738C>A | CA484995304 | CHD8 | c.5220G>T (p.Leu1740=) c.3757G>T c.6057G>T (p.Leu2019=) n.5213G>T n.851G>T | |
14 | g.21393738C>G | CA484995305 | CHD8 | c.5220G>C (p.Leu1740=) c.3757G>C c.6057G>C (p.Leu2019=) n.5213G>C n.851G>C | |
14 | g.21393738C>T | CA484995306 | CHD8 | c.5220G>A (p.Leu1740=) c.3757G>A c.6057G>A (p.Leu2019=) n.5213G>A n.851G>A | gnomAD v4 |
14 | g.21393739A>C | CA388880502 | CHD8 | c.5219T>G (p.Leu1740Arg) c.3756T>G c.6056T>G (p.Leu2019Arg) n.5212T>G n.850T>G | |
14 | g.21393739A>G | CA388880503 | CHD8 | c.5219T>C (p.Leu1740Pro) c.3756T>C c.6056T>C (p.Leu2019Pro) n.5212T>C n.850T>C | |
14 | g.21393739A>T | CA388880504 | CHD8 | c.5219T>A (p.Leu1740Gln) c.3756T>A c.6056T>A (p.Leu2019Gln) n.5212T>A n.850T>A | |
14 | g.21393740G>A | CA484995314 | CHD8 | c.5218C>T (p.Leu1740=) c.3755C>T c.6055C>T (p.Leu2019=) n.5211C>T n.849C>T | gnomAD v4 |
14 | g.21393740G>C | CA388880505 | CHD8 | c.5218C>G (p.Leu1740Val) c.3755C>G c.6055C>G (p.Leu2019Val) n.5211C>G n.849C>G | |
14 | g.21393740G= | CA2122484113 | CHD8 | c.5218C= (p.Leu1740=) c.3755C= c.6055C= (p.Leu2019=) n.5211C= n.849C= | |
14 | g.21393740G>T | CA7090845 | CHD8 | c.5218C>A (p.Leu1740Met) c.3755C>A c.6055C>A (p.Leu2019Met) n.5211C>A n.849C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393741A= | CA2122484119 | CHD8 | c.5217T= (p.Ser1739=) c.3754T= c.6054T= (p.Ser2018=) n.5210T= n.848T= | |
14 | g.21393741A>C | CA388880506 | CHD8 | c.5217T>G (p.Ser1739Arg) c.3754T>G c.6054T>G (p.Ser2018Arg) n.5210T>G n.848T>G | gnomAD v4 |
14 | g.21393741A>G | CA7090846 | CHD8 | c.5217T>C (p.Ser1739=) c.3754T>C c.6054T>C (p.Ser2018=) n.5210T>C n.848T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393741A>T | CA388880507 | CHD8 | c.5217T>A (p.Ser1739Arg) c.3754T>A c.6054T>A (p.Ser2018Arg) n.5210T>A n.848T>A | |
14 | g.21393742C>A | CA388880508 | CHD8 | c.5216G>T (p.Ser1739Ile) c.3753G>T c.6053G>T (p.Ser2018Ile) n.5209G>T n.847G>T | gnomAD v4 |
14 | g.21393742C>G | CA388880509 | CHD8 | c.5216G>C (p.Ser1739Thr) c.3753G>C c.6053G>C (p.Ser2018Thr) n.5209G>C n.847G>C | |
14 | g.21393742C>T | CA388880510 | CHD8 | c.5216G>A (p.Ser1739Asn) c.3753G>A c.6053G>A (p.Ser2018Asn) n.5209G>A n.847G>A | |
14 | g.21393743T>A | CA388880513 | CHD8 | c.5215A>T (p.Ser1739Cys) c.3752A>T c.6052A>T (p.Ser2018Cys) n.5208A>T n.846A>T | |
14 | g.21393743T>C | CA388880512 | CHD8 | c.5215A>G (p.Ser1739Gly) c.3752A>G c.6052A>G (p.Ser2018Gly) n.5208A>G n.846A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393743T>G | CA388880511 | CHD8 | c.5215A>C (p.Ser1739Arg) c.3752A>C c.6052A>C (p.Ser2018Arg) n.5208A>C n.846A>C | |
14 | g.21393743T= | CA2122484123 | CHD8 | c.5215A= (p.Ser1739=) c.3752A= c.6052A= (p.Ser2018=) n.5208A= n.846A= | |
14 | g.21393744G>A | CA7090847 | CHD8 | c.5214C>T (p.Pro1738=) c.3751C>T c.6051C>T (p.Pro2017=) n.5207C>T n.845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393744G>C | CA484995325 | CHD8 | c.5214C>G (p.Pro1738=) c.3751C>G c.6051C>G (p.Pro2017=) n.5207C>G n.845C>G | gnomAD v4 |
14 | g.21393744G= | CA2122484128 | CHD8 | c.5214C= (p.Pro1738=) c.3751C= c.6051C= (p.Pro2017=) n.5207C= n.845C= | |
14 | g.21393744G>T | CA484995327 | CHD8 | c.5214C>A (p.Pro1738=) c.3751C>A c.6051C>A (p.Pro2017=) n.5207C>A n.845C>A | |
14 | g.21393745G>A | CA388880514 | CHD8 | c.5213C>T (p.Pro1738Leu) c.3750C>T c.6050C>T (p.Pro2017Leu) n.5206C>T n.844C>T | gnomAD v4 |
14 | g.21393745G>C | CA388880515 | CHD8 | c.5213C>G (p.Pro1738Arg) c.3750C>G c.6050C>G (p.Pro2017Arg) n.5206C>G n.844C>G | |
14 | g.21393745G= | CA2122484134 | CHD8 | c.5213C= (p.Pro1738=) c.3750C= c.6050C= (p.Pro2017=) n.5206C= n.844C= | |
14 | g.21393745G>T | CA388880516 | CHD8 | c.5213C>A (p.Pro1738His) c.3750C>A c.6050C>A (p.Pro2017His) n.5206C>A n.844C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393746G>A | CA388880517 | CHD8 | c.5212C>T (p.Pro1738Ser) c.3749C>T c.6049C>T (p.Pro2017Ser) n.5205C>T n.843C>T | |
14 | g.21393746G>C | CA388880518 | CHD8 | c.5212C>G (p.Pro1738Ala) c.3749C>G c.6049C>G (p.Pro2017Ala) n.5205C>G n.843C>G | |
14 | g.21393746G>T | CA388880519 | CHD8 | c.5212C>A (p.Pro1738Thr) c.3749C>A c.6049C>A (p.Pro2017Thr) n.5205C>A n.843C>A | |
14 | g.21393747G>A | CA484995340 | CHD8 | c.5211C>T (p.Val1737=) c.3748C>T c.6048C>T (p.Val2016=) n.5204C>T n.842C>T | dbSNP |
14 | g.21393747G>C | CA484995341 | CHD8 | c.5211C>G (p.Val1737=) c.3748C>G c.6048C>G (p.Val2016=) n.5204C>G n.842C>G | gnomAD v4 |
14 | g.21393747G>T | CA484995342 | CHD8 | c.5211C>A (p.Val1737=) c.3748C>A c.6048C>A (p.Val2016=) n.5204C>A n.842C>A | |
14 | g.21393748A>C | CA388880522 | CHD8 | c.5210T>G (p.Val1737Gly) c.3747T>G c.6047T>G (p.Val2016Gly) n.5203T>G n.841T>G | |
14 | g.21393748A>G | CA388880520 | CHD8 | c.5210T>C (p.Val1737Ala) c.3747T>C c.6047T>C (p.Val2016Ala) n.5203T>C n.841T>C | |
14 | g.21393748A>T | CA388880521 | CHD8 | c.5210T>A (p.Val1737Asp) c.3747T>A c.6047T>A (p.Val2016Asp) n.5203T>A n.841T>A | |
14 | g.21393749C>A | CA388880523 | CHD8 | c.5209G>T (p.Val1737Phe) c.3746G>T c.6046G>T (p.Val2016Phe) n.5202G>T n.840G>T | dbSNP |
14 | g.21393749C= | CA2122484138 | CHD8 | c.5209G= (p.Val1737=) c.3746G= c.6046G= (p.Val2016=) n.5202G= n.840G= | |
14 | g.21393749C>G | CA388880524 | CHD8 | c.5209G>C (p.Val1737Leu) c.3746G>C c.6046G>C (p.Val2016Leu) n.5202G>C n.840G>C | gnomAD v4 |
14 | g.21393749C>T | CA388880525 | CHD8 | c.5209G>A (p.Val1737Ile) c.3746G>A c.6046G>A (p.Val2016Ile) n.5202G>A n.840G>A | ClinVar dbSNP |
14 | g.21393750C>A | CA388880526 | CHD8 | c.5208G>T (p.Gln1736His) c.3745G>T c.6045G>T (p.Gln2015His) n.5201G>T n.839G>T | |
14 | g.21393750C>G | CA388880527 | CHD8 | c.5208G>C (p.Gln1736His) c.3745G>C c.6045G>C (p.Gln2015His) n.5201G>C n.839G>C | |
14 | g.21393750C>T | CA484995357 | CHD8 | c.5208G>A (p.Gln1736=) c.3745G>A c.6045G>A (p.Gln2015=) n.5201G>A n.839G>A | |
14 | g.21393751T>A | CA388880528 | CHD8 | c.5207A>T (p.Gln1736Leu) c.3744A>T c.6044A>T (p.Gln2015Leu) n.5200A>T n.838A>T | |
14 | g.21393751T>C | CA388880530 | CHD8 | c.5207A>G (p.Gln1736Arg) c.3744A>G c.6044A>G (p.Gln2015Arg) n.5200A>G n.838A>G | |
14 | g.21393751T>G | CA388880529 | CHD8 | c.5207A>C (p.Gln1736Pro) c.3744A>C c.6044A>C (p.Gln2015Pro) n.5200A>C n.838A>C | |
14 | g.21393752G>A | CA388880531 | CHD8 | c.5206C>T (p.Gln1736Ter) c.3743C>T c.6043C>T (p.Gln2015Ter) n.5199C>T n.837C>T | dbSNP COSMIC COSMIC |
14 | g.21393752G>C | CA388880532 | CHD8 | c.5206C>G (p.Gln1736Glu) c.3743C>G c.6043C>G (p.Gln2015Glu) n.5199C>G n.837C>G | |
14 | g.21393752G= | CA2122484143 | CHD8 | c.5206C= (p.Gln1736=) c.3743C= c.6043C= (p.Gln2015=) n.5199C= n.837C= | |
14 | g.21393752G>T | CA388880533 | CHD8 | c.5206C>A (p.Gln1736Lys) c.3743C>A c.6043C>A (p.Gln2015Lys) n.5199C>A n.837C>A | |
14 | g.21393753G>A | CA484995374 | CHD8 | c.5205C>T (p.Thr1735=) c.3742C>T c.6042C>T (p.Thr2014=) n.5198C>T n.836C>T | |
14 | g.21393753G>C | CA484995367 | CHD8 | c.5205C>G (p.Thr1735=) c.3742C>G c.6042C>G (p.Thr2014=) n.5198C>G n.836C>G | |
14 | g.21393753G>T | CA484995369 | CHD8 | c.5205C>A (p.Thr1735=) c.3742C>A c.6042C>A (p.Thr2014=) n.5198C>A n.836C>A | |
14 | g.21393754G>A | CA257593210 | CHD8 | c.5204C>T (p.Thr1735Ile) c.3741C>T c.6041C>T (p.Thr2014Ile) n.5197C>T n.835C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393754G>C | CA388880534 | CHD8 | c.5204C>G (p.Thr1735Ser) c.3741C>G c.6041C>G (p.Thr2014Ser) n.5197C>G n.835C>G | |
14 | g.21393754G= | CA2122484148 | CHD8 | c.5204C= (p.Thr1735=) c.3741C= c.6041C= (p.Thr2014=) n.5197C= n.835C= | |
14 | g.21393754G>T | CA7090848 | CHD8 | c.5204C>A (p.Thr1735Asn) c.3741C>A c.6041C>A (p.Thr2014Asn) n.5197C>A n.835C>A | dbSNP ExAC gnomAD v2 |
14 | g.21393755T>A | CA388880535 | CHD8 | c.5203A>T (p.Thr1735Ser) c.3740A>T c.6040A>T (p.Thr2014Ser) n.5196A>T n.834A>T | |
14 | g.21393755T>C | CA388880536 | CHD8 | c.5203A>G (p.Thr1735Ala) c.3740A>G c.6040A>G (p.Thr2014Ala) n.5196A>G n.834A>G | |
14 | g.21393755T>G | CA388880537 | CHD8 | c.5203A>C (p.Thr1735Pro) c.3740A>C c.6040A>C (p.Thr2014Pro) n.5196A>C n.834A>C | |
14 | g.21393756A= | CA2122484151 | CHD8 | c.5202T= (p.Ala1734=) c.3739T= c.6039T= (p.Ala2013=) n.5195T= n.833T= | |
14 | g.21393756A>C | CA484995385 | CHD8 | c.5202T>G (p.Ala1734=) c.3739T>G c.6039T>G (p.Ala2013=) n.5195T>G n.833T>G | |
14 | g.21393756A>G | CA484995388 | CHD8 | c.5202T>C (p.Ala1734=) c.3739T>C c.6039T>C (p.Ala2013=) n.5195T>C n.833T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393756A>T | CA484995391 | CHD8 | c.5202T>A (p.Ala1734=) c.3739T>A c.6039T>A (p.Ala2013=) n.5195T>A n.833T>A | |
14 | g.21393757G>A | CA388880538 | CHD8 | c.5201C>T (p.Ala1734Val) c.3738C>T c.6038C>T (p.Ala2013Val) n.5194C>T n.832C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393757G>C | CA388880539 | CHD8 | c.5201C>G (p.Ala1734Gly) c.3738C>G c.6038C>G (p.Ala2013Gly) n.5194C>G n.832C>G | |
14 | g.21393757G= | CA2122484160 | CHD8 | c.5201C= (p.Ala1734=) c.3738C= c.6038C= (p.Ala2013=) n.5194C= n.832C= | |
14 | g.21393757G>T | CA388880540 | CHD8 | c.5201C>A (p.Ala1734Asp) c.3738C>A c.6038C>A (p.Ala2013Asp) n.5194C>A n.832C>A | |
14 | g.21393758C>A | CA388880543 | CHD8 | c.5200G>T (p.Ala1734Ser) c.3737G>T c.6037G>T (p.Ala2013Ser) n.5193G>T n.831G>T | |
14 | g.21393758C>G | CA388880542 | CHD8 | c.5200G>C (p.Ala1734Pro) c.3737G>C c.6037G>C (p.Ala2013Pro) n.5193G>C n.831G>C | gnomAD v4 |
14 | g.21393758C>T | CA388880541 | CHD8 | c.5200G>A (p.Ala1734Thr) c.3737G>A c.6037G>A (p.Ala2013Thr) n.5193G>A n.831G>A | ClinVar |
14 | g.21393759T>A | CA484995399 | CHD8 | c.5199A>T (p.Thr1733=) c.3736A>T c.6036A>T (p.Thr2012=) n.5192A>T n.830A>T | |
14 | g.21393759T>C | CA484995400 | CHD8 | c.5199A>G (p.Thr1733=) c.3736A>G c.6036A>G (p.Thr2012=) n.5192A>G n.830A>G | dbSNP gnomAD v4 |
14 | g.21393759T>G | CA484995402 | CHD8 | c.5199A>C (p.Thr1733=) c.3736A>C c.6036A>C (p.Thr2012=) n.5192A>C n.830A>C | |
14 | g.21393759T= | CA2122484165 | CHD8 | c.5199A= (p.Thr1733=) c.3736A= c.6036A= (p.Thr2012=) n.5192A= n.830A= | |
14 | g.21393760G>A | CA7090849 | CHD8 | c.5198C>T (p.Thr1733Ile) c.3735C>T c.6035C>T (p.Thr2012Ile) n.5191C>T n.829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393760G>C | CA388880544 | CHD8 | c.5198C>G (p.Thr1733Arg) c.3735C>G c.6035C>G (p.Thr2012Arg) n.5191C>G n.829C>G | dbSNP gnomAD v2 |
14 | g.21393760G= | CA2122484171 | CHD8 | c.5198C= (p.Thr1733=) c.3735C= c.6035C= (p.Thr2012=) n.5191C= n.829C= | |
14 | g.21393760G>T | CA388880545 | CHD8 | c.5198C>A (p.Thr1733Lys) c.3735C>A c.6035C>A (p.Thr2012Lys) n.5191C>A n.829C>A | |
14 | g.21393761T>A | CA388880546 | CHD8 | c.5197A>T (p.Thr1733Ser) c.3734A>T c.6034A>T (p.Thr2012Ser) n.5190A>T n.828A>T | |
14 | g.21393761T>C | CA388880547 | CHD8 | c.5197A>G (p.Thr1733Ala) c.3734A>G c.6034A>G (p.Thr2012Ala) n.5190A>G n.828A>G | |
14 | g.21393761T>G | CA388880548 | CHD8 | c.5197A>C (p.Thr1733Pro) c.3734A>C c.6034A>C (p.Thr2012Pro) n.5190A>C n.828A>C | |
14 | g.21393762C>A | CA388880549 | CHD8 | c.5196G>T (p.Glu1732Asp) c.3733G>T c.6033G>T (p.Glu2011Asp) n.5189G>T n.827G>T | |
14 | g.21393762C>G | CA388880550 | CHD8 | c.5196G>C (p.Glu1732Asp) c.3733G>C c.6033G>C (p.Glu2011Asp) n.5189G>C n.827G>C | |
14 | g.21393762C>T | CA484995408 | CHD8 | c.5196G>A (p.Glu1732=) c.3733G>A c.6033G>A (p.Glu2011=) n.5189G>A n.827G>A | |
14 | g.21393763T>A | CA388880551 | CHD8 | c.5195A>T (p.Glu1732Val) c.3732A>T c.6032A>T (p.Glu2011Val) n.5188A>T n.826A>T | |
14 | g.21393763T>C | CA388880552 | CHD8 | c.5195A>G (p.Glu1732Gly) c.3732A>G c.6032A>G (p.Glu2011Gly) n.5188A>G n.826A>G | |
14 | g.21393763T>G | CA388880553 | CHD8 | c.5195A>C (p.Glu1732Ala) c.3732A>C c.6032A>C (p.Glu2011Ala) n.5188A>C n.826A>C | |
14 | g.21393763dup | CA2695219074 | CHD8 | c.5195dup (p.Thr1733AspfsTer?) c.3732dup c.6032dup (p.Thr2012AspfsTer?) n.5188dup n.826dup | |
14 | g.21393763_21393764insA | CA2695219075 | CHD8 | c.5194_5195insT (p.Glu1732ValfsTer?) c.3731_3732insT c.6031_6032insT (p.Glu2011ValfsTer?) n.5187_5188insT n.825_826insT | |
14 | g.21393764C>A | CA388880554 | CHD8 | c.5194G>T (p.Glu1732Ter) c.3731G>T c.6031G>T (p.Glu2011Ter) n.5187G>T n.825G>T | dbSNP |
14 | g.21393764C= | CA2122484182 | CHD8 | c.5194G= (p.Glu1732=) c.3731G= c.6031G= (p.Glu2011=) n.5187G= n.825G= | |
14 | g.21393764C>G | CA388880555 | CHD8 | c.5194G>C (p.Glu1732Gln) c.3731G>C c.6031G>C (p.Glu2011Gln) n.5187G>C n.825G>C | |
14 | g.21393764C>T | CA388880556 | CHD8 | c.5194G>A (p.Glu1732Lys) c.3731G>A c.6031G>A (p.Glu2011Lys) n.5187G>A n.825G>A | |
14 | g.21393765C>A | CA388880558 | CHD8 | c.5193G>T (p.Glu1731Asp) c.3730G>T c.6030G>T (p.Glu2010Asp) n.5186G>T n.824G>T | |
14 | g.21393765C>G | CA388880557 | CHD8 | c.5193G>C (p.Glu1731Asp) c.3730G>C c.6030G>C (p.Glu2010Asp) n.5186G>C n.824G>C | |
14 | g.21393765C>T | CA484995423 | CHD8 | c.5193G>A (p.Glu1731=) c.3730G>A c.6030G>A (p.Glu2010=) n.5186G>A n.824G>A | gnomAD v4 |
14 | g.21393766T>A | CA388880559 | CHD8 | c.5192A>T (p.Glu1731Val) c.3729A>T c.6029A>T (p.Glu2010Val) n.5185A>T n.823A>T | |
14 | g.21393766T>C | CA388880560 | CHD8 | c.5192A>G (p.Glu1731Gly) c.3729A>G c.6029A>G (p.Glu2010Gly) n.5185A>G n.823A>G | |
14 | g.21393766T>G | CA388880561 | CHD8 | c.5192A>C (p.Glu1731Ala) c.3729A>C c.6029A>C (p.Glu2010Ala) n.5185A>C n.823A>C | |
14 | g.21393767C>A | CA388880562 | CHD8 | c.5191G>T (p.Glu1731Ter) c.3728G>T c.6028G>T (p.Glu2010Ter) n.5184G>T n.822G>T | dbSNP |
14 | g.21393767C= | CA2122484188 | CHD8 | c.5191G= (p.Glu1731=) c.3728G= c.6028G= (p.Glu2010=) n.5184G= n.822G= | |
14 | g.21393767C>G | CA388880563 | CHD8 | c.5191G>C (p.Glu1731Gln) c.3728G>C c.6028G>C (p.Glu2010Gln) n.5184G>C n.822G>C | |
14 | g.21393767C>T | CA7090850 | CHD8 | c.5191G>A (p.Glu1731Lys) c.3728G>A c.6028G>A (p.Glu2010Lys) n.5184G>A n.822G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393768G>A | CA7090851 | CHD8 | c.5190C>T (p.Pro1730=) c.3727C>T c.6027C>T (p.Pro2009=) n.5183C>T n.821C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393768G>C | CA484995432 | CHD8 | c.5190C>G (p.Pro1730=) c.3727C>G c.6027C>G (p.Pro2009=) n.5183C>G n.821C>G | gnomAD v4 |
14 | g.21393768G= | CA2122484193 | CHD8 | c.5190C= (p.Pro1730=) c.3727C= c.6027C= (p.Pro2009=) n.5183C= n.821C= | |
14 | g.21393768G>T | CA484995433 | CHD8 | c.5190C>A (p.Pro1730=) c.3727C>A c.6027C>A (p.Pro2009=) n.5183C>A n.821C>A |