Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
14 | g.21393769G>A | CA388880564 | CHD8 | c.5189C>T (p.Pro1730Leu) c.3726C>T c.6026C>T (p.Pro2009Leu) n.5182C>T n.820C>T | COSMIC COSMIC |
14 | g.21393769G>C | CA388880565 | CHD8 | c.5189C>G (p.Pro1730Arg) c.3726C>G c.6026C>G (p.Pro2009Arg) n.5182C>G n.820C>G | |
14 | g.21393769G>T | CA388880566 | CHD8 | c.5189C>A (p.Pro1730His) c.3726C>A c.6026C>A (p.Pro2009His) n.5182C>A n.820C>A | |
14 | g.21393770G>A | CA388880567 | CHD8 | c.5188C>T (p.Pro1730Ser) c.3725C>T c.6025C>T (p.Pro2009Ser) n.5181C>T n.819C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393770G>C | CA388880568 | CHD8 | c.5188C>G (p.Pro1730Ala) c.3725C>G c.6025C>G (p.Pro2009Ala) n.5181C>G n.819C>G | gnomAD v4 |
14 | g.21393770G= | CA2122484200 | CHD8 | c.5188C= (p.Pro1730=) c.3725C= c.6025C= (p.Pro2009=) n.5181C= n.819C= | |
14 | g.21393770G>T | CA388880569 | CHD8 | c.5188C>A (p.Pro1730Thr) c.3725C>A c.6025C>A (p.Pro2009Thr) n.5181C>A n.819C>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393771T>A | CA484995440 | CHD8 | c.5187A>T (p.Ser1729=) c.3724A>T c.6024A>T (p.Ser2008=) n.5180A>T n.818A>T | |
14 | g.21393771T>C | CA484995441 | CHD8 | c.5187A>G (p.Ser1729=) c.3724A>G c.6024A>G (p.Ser2008=) n.5180A>G n.818A>G | |
14 | g.21393771T>G | CA484995442 | CHD8 | c.5187A>C (p.Ser1729=) c.3724A>C c.6024A>C (p.Ser2008=) n.5180A>C n.818A>C | |
14 | g.21393772G>A | CA388880572 | CHD8 | c.5186C>T (p.Ser1729Leu) c.3723C>T c.6023C>T (p.Ser2008Leu) n.5179C>T n.817C>T | |
14 | g.21393772G>C | CA388880570 | CHD8 | c.5186C>G (p.Ser1729Ter) c.3723C>G c.6023C>G (p.Ser2008Ter) n.5179C>G n.817C>G | |
14 | g.21393772G>T | CA388880571 | CHD8 | c.5186C>A (p.Ser1729Ter) c.3723C>A c.6023C>A (p.Ser2008Ter) n.5179C>A n.817C>A | |
14 | g.21393773A>C | CA388880573 | CHD8 | c.5185T>G (p.Ser1729Ala) c.3722T>G c.6022T>G (p.Ser2008Ala) n.5178T>G n.816T>G | |
14 | g.21393773A>G | CA388880574 | CHD8 | c.5185T>C (p.Ser1729Pro) c.3722T>C c.6022T>C (p.Ser2008Pro) n.5178T>C n.816T>C | |
14 | g.21393773A>T | CA388880575 | CHD8 | c.5185T>A (p.Ser1729Thr) c.3722T>A c.6022T>A (p.Ser2008Thr) n.5178T>A n.816T>A | |
14 | g.21393774C>A | CA388880576 | CHD8 | c.5184G>T (p.Lys1728Asn) c.3721G>T c.6021G>T (p.Lys2007Asn) n.5177G>T n.815G>T | gnomAD v4 |
14 | g.21393774C>G | CA388880577 | CHD8 | c.5184G>C (p.Lys1728Asn) c.3721G>C c.6021G>C (p.Lys2007Asn) n.5177G>C n.815G>C | |
14 | g.21393774C>T | CA484995450 | CHD8 | c.5184G>A (p.Lys1728=) c.3721G>A c.6021G>A (p.Lys2007=) n.5177G>A n.815G>A | |
14 | g.21393775T>A | CA388880578 | CHD8 | c.5183A>T (p.Lys1728Met) c.3720A>T c.6020A>T (p.Lys2007Met) n.5176A>T n.814A>T | |
14 | g.21393775T>C | CA388880579 | CHD8 | c.5183A>G (p.Lys1728Arg) c.3720A>G c.6020A>G (p.Lys2007Arg) n.5176A>G n.814A>G | |
14 | g.21393775T>G | CA388880580 | CHD8 | c.5183A>C (p.Lys1728Thr) c.3720A>C c.6020A>C (p.Lys2007Thr) n.5176A>C n.814A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393775T= | CA2122484207 | CHD8 | c.5183A= (p.Lys1728=) c.3720A= c.6020A= (p.Lys2007=) n.5176A= n.814A= | |
14 | g.21393776T>A | CA388880581 | CHD8 | c.5182A>T (p.Lys1728Ter) c.3719A>T c.6019A>T (p.Lys2007Ter) n.5175A>T n.813A>T | dbSNP |
14 | g.21393776T>C | CA388880582 | CHD8 | c.5182A>G (p.Lys1728Glu) c.3719A>G c.6019A>G (p.Lys2007Glu) n.5175A>G n.813A>G | dbSNP |
14 | g.21393776T>G | CA388880583 | CHD8 | c.5182A>C (p.Lys1728Gln) c.3719A>C c.6019A>C (p.Lys2007Gln) n.5175A>C n.813A>C | |
14 | g.21393776T= | CA2122484213 | CHD8 | c.5182A= (p.Lys1728=) c.3719A= c.6019A= (p.Lys2007=) n.5175A= n.813A= | |
14 | g.21393777T>A | CA388880584 | CHD8 | c.5181A>T (p.Glu1727Asp) c.3718A>T c.6018A>T (p.Glu2006Asp) n.5174A>T n.812A>T | |
14 | g.21393777T>C | CA484995460 | CHD8 | c.5181A>G (p.Glu1727=) c.3718A>G c.6018A>G (p.Glu2006=) n.5174A>G n.812A>G | |
14 | g.21393777T>G | CA388880585 | CHD8 | c.5181A>C (p.Glu1727Asp) c.3718A>C c.6018A>C (p.Glu2006Asp) n.5174A>C n.812A>C | |
14 | g.21393778T>A | CA388880588 | CHD8 | c.5180A>T (p.Glu1727Val) c.3717A>T c.6017A>T (p.Glu2006Val) n.5173A>T n.811A>T | |
14 | g.21393778T>C | CA388880586 | CHD8 | c.5180A>G (p.Glu1727Gly) c.3717A>G c.6017A>G (p.Glu2006Gly) n.5173A>G n.811A>G | |
14 | g.21393778T>G | CA388880587 | CHD8 | c.5180A>C (p.Glu1727Ala) c.3717A>C c.6017A>C (p.Glu2006Ala) n.5173A>C n.811A>C | |
14 | g.21393779C>A | CA388880589 | CHD8 | c.5179G>T (p.Glu1727Ter) c.3716G>T c.6016G>T (p.Glu2006Ter) n.5172G>T n.810G>T | |
14 | g.21393779C>G | CA388880590 | CHD8 | c.5179G>C (p.Glu1727Gln) c.3716G>C c.6016G>C (p.Glu2006Gln) n.5172G>C n.810G>C | |
14 | g.21393779C>T | CA388880591 | CHD8 | c.5179G>A (p.Glu1727Lys) c.3716G>A c.6016G>A (p.Glu2006Lys) n.5172G>A n.810G>A | |
14 | g.21393780A>C | CA484995475 | CHD8 | c.5178T>G (p.Val1726=) c.3715T>G c.6015T>G (p.Val2005=) n.5171T>G n.809T>G | |
14 | g.21393780A>G | CA484995476 | CHD8 | c.5178T>C (p.Val1726=) c.3715T>C c.6015T>C (p.Val2005=) n.5171T>C n.809T>C | |
14 | g.21393780A>T | CA484995477 | CHD8 | c.5178T>A (p.Val1726=) c.3715T>A c.6015T>A (p.Val2005=) n.5171T>A n.809T>A | |
14 | g.21393781A>C | CA388880592 | CHD8 | c.5177T>G (p.Val1726Gly) c.3714T>G c.6014T>G (p.Val2005Gly) n.5170T>G n.808T>G | gnomAD v4 |
14 | g.21393781A>G | CA388880593 | CHD8 | c.5177T>C (p.Val1726Ala) c.3714T>C c.6014T>C (p.Val2005Ala) n.5170T>C n.808T>C | |
14 | g.21393781A>T | CA388880594 | CHD8 | c.5177T>A (p.Val1726Asp) c.3714T>A c.6014T>A (p.Val2005Asp) n.5170T>A n.808T>A | |
14 | g.21393782C>A | CA388880595 | CHD8 | c.5176G>T (p.Val1726Phe) c.3713G>T c.6013G>T (p.Val2005Phe) n.5169G>T n.807G>T | |
14 | g.21393782C= | CA2122484218 | CHD8 | c.5176G= (p.Val1726=) c.3713G= c.6013G= (p.Val2005=) n.5169G= n.807G= | |
14 | g.21393782C>G | CA388880596 | CHD8 | c.5176G>C (p.Val1726Leu) c.3713G>C c.6013G>C (p.Val2005Leu) n.5169G>C n.807G>C | |
14 | g.21393782C>T | CA7090852 | CHD8 | c.5176G>A (p.Val1726Ile) c.3713G>A c.6013G>A (p.Val2005Ile) n.5169G>A n.807G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393783A>C | CA484995486 | CHD8 | c.5175T>G (p.Pro1725=) c.3712T>G c.6012T>G (p.Pro2004=) n.5168T>G n.806T>G | |
14 | g.21393783A>G | CA484995488 | CHD8 | c.5175T>C (p.Pro1725=) c.3712T>C c.6012T>C (p.Pro2004=) n.5168T>C n.806T>C | gnomAD v4 |
14 | g.21393783A>T | CA484995490 | CHD8 | c.5175T>A (p.Pro1725=) c.3712T>A c.6012T>A (p.Pro2004=) n.5168T>A n.806T>A | |
14 | g.21393784G>A | CA388880597 | CHD8 | c.5174C>T (p.Pro1725Leu) c.3711C>T c.6011C>T (p.Pro2004Leu) n.5167C>T n.805C>T | gnomAD v4 |
14 | g.21393784G>C | CA388880598 | CHD8 | c.5174C>G (p.Pro1725Arg) c.3711C>G c.6011C>G (p.Pro2004Arg) n.5167C>G n.805C>G | |
14 | g.21393784G= | CA2122484225 | CHD8 | c.5174C= (p.Pro1725=) c.3711C= c.6011C= (p.Pro2004=) n.5167C= n.805C= | |
14 | g.21393784G>T | CA7090853 | CHD8 | c.5174C>A (p.Pro1725His) c.3711C>A c.6011C>A (p.Pro2004His) n.5167C>A n.805C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393785G>A | CA388880601 | CHD8 | c.5173C>T (p.Pro1725Ser) c.3710C>T c.6010C>T (p.Pro2004Ser) n.5166C>T n.804C>T | ClinVar gnomAD v4 |
14 | g.21393785G>C | CA388880599 | CHD8 | c.5173C>G (p.Pro1725Ala) c.3710C>G c.6010C>G (p.Pro2004Ala) n.5166C>G n.804C>G | gnomAD v4 |
14 | g.21393785G>T | CA388880600 | CHD8 | c.5173C>A (p.Pro1725Thr) c.3710C>A c.6010C>A (p.Pro2004Thr) n.5166C>A n.804C>A | |
14 | g.21393786A>C | CA484995504 | CHD8 | c.5172T>G (p.Ala1724=) c.3709T>G c.6009T>G (p.Ala2003=) n.5165T>G n.803T>G | |
14 | g.21393786A>G | CA484995505 | CHD8 | c.5172T>C (p.Ala1724=) c.3709T>C c.6009T>C (p.Ala2003=) n.5165T>C n.803T>C | |
14 | g.21393786A>T | CA484995506 | CHD8 | c.5172T>A (p.Ala1724=) c.3709T>A c.6009T>A (p.Ala2003=) n.5165T>A n.803T>A | |
14 | g.21393787G>A | CA388880602 | CHD8 | c.5171C>T (p.Ala1724Val) c.3708C>T c.6008C>T (p.Ala2003Val) n.5164C>T n.802C>T | |
14 | g.21393787G>C | CA10605444 | CHD8 | c.5171C>G (p.Ala1724Gly) c.3708C>G c.6008C>G (p.Ala2003Gly) n.5164C>G n.802C>G | ClinVar dbSNP gnomAD v4 |
14 | g.21393787G= | CA2122484239 | CHD8 | c.5171C= (p.Ala1724=) c.3708C= c.6008C= (p.Ala2003=) n.5164C= n.802C= | |
14 | g.21393787G>T | CA388880603 | CHD8 | c.5171C>A (p.Ala1724Asp) c.3708C>A c.6008C>A (p.Ala2003Asp) n.5164C>A n.802C>A | |
14 | g.21393788C>A | CA388880604 | CHD8 | c.5170G>T (p.Ala1724Ser) c.3707G>T c.6007G>T (p.Ala2003Ser) n.5163G>T n.801G>T | gnomAD v4 |
14 | g.21393788C>G | CA388880605 | CHD8 | c.5170G>C (p.Ala1724Pro) c.3707G>C c.6007G>C (p.Ala2003Pro) n.5163G>C n.801G>C | |
14 | g.21393788C>T | CA388880606 | CHD8 | c.5170G>A (p.Ala1724Thr) c.3707G>A c.6007G>A (p.Ala2003Thr) n.5163G>A n.801G>A | |
14 | g.21393789A>C | CA388880607 | CHD8 | c.5169T>G (p.Asp1723Glu) c.3706T>G c.6006T>G (p.Asp2002Glu) n.5162T>G n.800T>G | |
14 | g.21393789A>G | CA484995514 | CHD8 | c.5169T>C (p.Asp1723=) c.3706T>C c.6006T>C (p.Asp2002=) n.5162T>C n.800T>C | |
14 | g.21393789A>T | CA388880608 | CHD8 | c.5169T>A (p.Asp1723Glu) c.3706T>A c.6006T>A (p.Asp2002Glu) n.5162T>A n.800T>A | |
14 | g.21393790T>A | CA388880609 | CHD8 | c.5168A>T (p.Asp1723Val) c.3705A>T c.6005A>T (p.Asp2002Val) n.5161A>T n.799A>T | gnomAD v4 |
14 | g.21393790T>C | CA388880610 | CHD8 | c.5168A>G (p.Asp1723Gly) c.3705A>G c.6005A>G (p.Asp2002Gly) n.5161A>G n.799A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393790T>G | CA388880611 | CHD8 | c.5168A>C (p.Asp1723Ala) c.3705A>C c.6005A>C (p.Asp2002Ala) n.5161A>C n.799A>C | |
14 | g.21393790T= | CA2122484243 | CHD8 | c.5168A= (p.Asp1723=) c.3705A= c.6005A= (p.Asp2002=) n.5161A= n.799A= | |
14 | g.21393791C>A | CA388880612 | CHD8 | c.5167G>T (p.Asp1723Tyr) c.3704G>T c.6004G>T (p.Asp2002Tyr) n.5160G>T n.798G>T | |
14 | g.21393791C>G | CA388880613 | CHD8 | c.5167G>C (p.Asp1723His) c.3704G>C c.6004G>C (p.Asp2002His) n.5160G>C n.798G>C | |
14 | g.21393791C>T | CA388880614 | CHD8 | c.5167G>A (p.Asp1723Asn) c.3704G>A c.6004G>A (p.Asp2002Asn) n.5160G>A n.798G>A | |
14 | g.21393792T>A | CA484995524 | CHD8 | c.5166A>T (p.Pro1722=) c.3703A>T c.6003A>T (p.Pro2001=) n.5159A>T n.797A>T | |
14 | g.21393792T>C | CA484995525 | CHD8 | c.5166A>G (p.Pro1722=) c.3703A>G c.6003A>G (p.Pro2001=) n.5159A>G n.797A>G | |
14 | g.21393792T>G | CA484995527 | CHD8 | c.5166A>C (p.Pro1722=) c.3703A>C c.6003A>C (p.Pro2001=) n.5159A>C n.797A>C | |
14 | g.21393793G>A | CA388880615 | CHD8 | c.5165C>T (p.Pro1722Leu) c.3702C>T c.6002C>T (p.Pro2001Leu) n.5158C>T n.796C>T | ClinVar |
14 | g.21393793G>C | CA388880616 | CHD8 | c.5165C>G (p.Pro1722Arg) c.3702C>G c.6002C>G (p.Pro2001Arg) n.5158C>G n.796C>G | |
14 | g.21393793G>T | CA388880617 | CHD8 | c.5165C>A (p.Pro1722Gln) c.3702C>A c.6002C>A (p.Pro2001Gln) n.5158C>A n.796C>A | |
14 | g.21393795del | CA2573149734 | CHD8 | c.5165del (p.Pro1722GlnfsTer22) c.3702del c.6002del (p.Pro2001GlnfsTer22) n.5158del n.796del | ClinVar dbSNP |
14 | g.21393794G>A | CA388880620 | CHD8 | c.5164C>T (p.Pro1722Ser) c.3701C>T c.6001C>T (p.Pro2001Ser) n.5157C>T n.795C>T | |
14 | g.21393794G>C | CA388880619 | CHD8 | c.5164C>G (p.Pro1722Ala) c.3701C>G c.6001C>G (p.Pro2001Ala) n.5157C>G n.795C>G | |
14 | g.21393794G>T | CA388880618 | CHD8 | c.5164C>A (p.Pro1722Thr) c.3701C>A c.6001C>A (p.Pro2001Thr) n.5157C>A n.795C>A | |
14 | g.21393795G>A | CA484995548 | CHD8 | c.5163C>T (p.Arg1721=) c.3700C>T c.6000C>T (p.Arg2000=) n.5156C>T n.794C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393795G>C | CA484995553 | CHD8 | c.5163C>G (p.Arg1721=) c.3700C>G c.6000C>G (p.Arg2000=) n.5156C>G n.794C>G | |
14 | g.21393795G= | CA2122484247 | CHD8 | c.5163C= (p.Arg1721=) c.3700C= c.6000C= (p.Arg2000=) n.5156C= n.794C= | |
14 | g.21393795G>T | CA484995567 | CHD8 | c.5163C>A (p.Arg1721=) c.3700C>A c.6000C>A (p.Arg2000=) n.5156C>A n.794C>A | |
14 | g.21393796C>A | CA388880621 | CHD8 | c.5162G>T (p.Arg1721Leu) c.3699G>T c.5999G>T (p.Arg2000Leu) n.5155G>T n.793G>T | |
14 | g.21393796C= | CA2122484248 | CHD8 | c.5162G= (p.Arg1721=) c.3699G= c.5999G= (p.Arg2000=) n.5155G= n.793G= | |
14 | g.21393796C>G | CA388880622 | CHD8 | c.5162G>C (p.Arg1721Pro) c.3699G>C c.5999G>C (p.Arg2000Pro) n.5155G>C n.793G>C | |
14 | g.21393796C>T | CA7090854 | CHD8 | c.5162G>A (p.Arg1721His) c.3699G>A c.5999G>A (p.Arg2000His) n.5155G>A n.793G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393797G>A | CA7090855 | CHD8 | c.5161C>T (p.Arg1721Cys) c.3698C>T c.5998C>T (p.Arg2000Cys) n.5154C>T n.792C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.21393797G>C | CA388880623 | CHD8 | c.5161C>G (p.Arg1721Gly) c.3698C>G c.5998C>G (p.Arg2000Gly) n.5154C>G n.792C>G | |
14 | g.21393797G= | CA2122484256 | CHD8 | c.5161C= (p.Arg1721=) c.3698C= c.5998C= (p.Arg2000=) n.5154C= n.792C= | |
14 | g.21393797G>T | CA388880624 | CHD8 | c.5161C>A (p.Arg1721Ser) c.3698C>A c.5998C>A (p.Arg2000Ser) n.5154C>A n.792C>A | gnomAD v4 |
14 | g.21393798C>A | CA484995587 | CHD8 | c.5160G>T (p.Leu1720=) c.3697G>T c.5997G>T (p.Leu1999=) n.5153G>T n.791G>T | gnomAD v4 |
14 | g.21393798C>G | CA484995591 | CHD8 | c.5160G>C (p.Leu1720=) c.3697G>C c.5997G>C (p.Leu1999=) n.5153G>C n.791G>C | |
14 | g.21393798C>T | CA484995589 | CHD8 | c.5160G>A (p.Leu1720=) c.3697G>A c.5997G>A (p.Leu1999=) n.5153G>A n.791G>A | |
14 | g.21393799A= | CA2122484263 | CHD8 | c.5159T= (p.Leu1720=) c.3696T= c.5996T= (p.Leu1999=) n.5152T= n.790T= | |
14 | g.21393799A>C | CA388880625 | CHD8 | c.5159T>G (p.Leu1720Arg) c.3696T>G c.5996T>G (p.Leu1999Arg) n.5152T>G n.790T>G | |
14 | g.21393799A>G | CA388880626 | CHD8 | c.5159T>C (p.Leu1720Pro) c.3696T>C c.5996T>C (p.Leu1999Pro) n.5152T>C n.790T>C | dbSNP |
14 | g.21393799A>T | CA388880627 | CHD8 | c.5159T>A (p.Leu1720Gln) c.3696T>A c.5996T>A (p.Leu1999Gln) n.5152T>A n.790T>A | |
14 | g.21393800G>A | CA484995601 | CHD8 | c.5158C>T (p.Leu1720=) c.3695C>T c.5995C>T (p.Leu1999=) n.5151C>T n.789C>T | |
14 | g.21393800G>C | CA388880628 | CHD8 | c.5158C>G (p.Leu1720Val) c.3695C>G c.5995C>G (p.Leu1999Val) n.5151C>G n.789C>G | |
14 | g.21393800G>T | CA388880629 | CHD8 | c.5158C>A (p.Leu1720Met) c.3695C>A c.5995C>A (p.Leu1999Met) n.5151C>A n.789C>A | |
14 | g.21393803dup | CA2839898804 | CHD8 | c.5158dup (p.Leu1720ProfsTer8) c.3695dup c.5995dup (p.Leu1999ProfsTer8) n.5151dup n.789dup | |
14 | g.21393801G>A | CA484995612 | CHD8 | c.5157C>T (p.Pro1719=) c.3694C>T c.5994C>T (p.Pro1998=) n.5150C>T n.788C>T | dbSNP gnomAD v4 |
14 | g.21393801G>C | CA484995608 | CHD8 | c.5157C>G (p.Pro1719=) c.3694C>G c.5994C>G (p.Pro1998=) n.5150C>G n.788C>G | |
14 | g.21393801G= | CA2122484270 | CHD8 | c.5157C= (p.Pro1719=) c.3694C= c.5994C= (p.Pro1998=) n.5150C= n.788C= | |
14 | g.21393801G>T | CA484995611 | CHD8 | c.5157C>A (p.Pro1719=) c.3694C>A c.5994C>A (p.Pro1998=) n.5150C>A n.788C>A | |
14 | g.21393802G>A | CA257593264 | CHD8 | c.5156C>T (p.Pro1719Leu) c.3693C>T c.5993C>T (p.Pro1998Leu) n.5149C>T n.787C>T | dbSNP |
14 | g.21393802G>C | CA388880630 | CHD8 | c.5156C>G (p.Pro1719Arg) c.3693C>G c.5993C>G (p.Pro1998Arg) n.5149C>G n.787C>G | ClinVar dbSNP gnomAD v4 |
14 | g.21393802G= | CA2122484276 | CHD8 | c.5156C= (p.Pro1719=) c.3693C= c.5993C= (p.Pro1998=) n.5149C= n.787C= | |
14 | g.21393802G>T | CA388880631 | CHD8 | c.5156C>A (p.Pro1719His) c.3693C>A c.5993C>A (p.Pro1998His) n.5149C>A n.787C>A | gnomAD v4 |
14 | g.21393803G>A | CA388880633 | CHD8 | c.5155C>T (p.Pro1719Ser) c.3692C>T c.5992C>T (p.Pro1998Ser) n.5148C>T n.786C>T | |
14 | g.21393803G>C | CA388880634 | CHD8 | c.5155C>G (p.Pro1719Ala) c.3692C>G c.5992C>G (p.Pro1998Ala) n.5148C>G n.786C>G | |
14 | g.21393803G>T | CA388880632 | CHD8 | c.5155C>A (p.Pro1719Thr) c.3692C>A c.5992C>A (p.Pro1998Thr) n.5148C>A n.786C>A | |
14 | g.21393804C>A | CA484995622 | CHD8 | c.5154G>T (p.Leu1718=) c.3691G>T c.5991G>T (p.Leu1997=) n.5147G>T n.785G>T | |
14 | g.21393804C>G | CA484995624 | CHD8 | c.5154G>C (p.Leu1718=) c.3691G>C c.5991G>C (p.Leu1997=) n.5147G>C n.785G>C | |
14 | g.21393804C>T | CA484995628 | CHD8 | c.5154G>A (p.Leu1718=) c.3691G>A c.5991G>A (p.Leu1997=) n.5147G>A n.785G>A | |
14 | g.21393805A>C | CA388880635 | CHD8 | c.5153T>G (p.Leu1718Arg) c.3690T>G c.5990T>G (p.Leu1997Arg) n.5146T>G n.784T>G | |
14 | g.21393805A>G | CA388880636 | CHD8 | c.5153T>C (p.Leu1718Pro) c.3690T>C c.5990T>C (p.Leu1997Pro) n.5146T>C n.784T>C | |
14 | g.21393805A>T | CA388880637 | CHD8 | c.5153T>A (p.Leu1718Gln) c.3690T>A c.5990T>A (p.Leu1997Gln) n.5146T>A n.784T>A | |
14 | g.21393806G>A | CA484995640 | CHD8 | c.5152C>T (p.Leu1718=) c.3689C>T c.5989C>T (p.Leu1997=) n.5145C>T n.783C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.21393806G>C | CA388880638 | CHD8 | c.5152C>G (p.Leu1718Val) c.3689C>G c.5989C>G (p.Leu1997Val) n.5145C>G n.783C>G | |
14 | g.21393806G= | CA2122484284 | CHD8 | c.5152C= (p.Leu1718=) c.3689C= c.5989C= (p.Leu1997=) n.5145C= n.783C= | |
14 | g.21393806G>T | CA388880639 | CHD8 | c.5152C>A (p.Leu1718Met) c.3689C>A c.5989C>A (p.Leu1997Met) n.5145C>A n.783C>A | |
14 | g.21393809_21393811del | CA2842826092 | CHD8 | c.5150_5152del (p.Pro1717del) c.3687_3689del c.5987_5989del (p.Pro1996del) n.5143_5145del n.781_783del | |
14 | g.21393807T>A | CA484995644 | CHD8 | c.5151A>T (p.Pro1717=) c.3688A>T c.5988A>T (p.Pro1996=) n.5144A>T n.782A>T | |
14 | g.21393807T>C | CA257593272 | CHD8 | c.5151A>G (p.Pro1717=) c.3688A>G c.5988A>G (p.Pro1996=) n.5144A>G n.782A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393807T>G | CA484995647 | CHD8 | c.5151A>C (p.Pro1717=) c.3688A>C c.5988A>C (p.Pro1996=) n.5144A>C n.782A>C | |
14 | g.21393807T= | CA2122484287 | CHD8 | c.5151A= (p.Pro1717=) c.3688A= c.5988A= (p.Pro1996=) n.5144A= n.782A= | |
14 | g.21393808G>A | CA388880642 | CHD8 | c.5150C>T (p.Pro1717Leu) c.3687C>T c.5987C>T (p.Pro1996Leu) n.5143C>T n.781C>T | |
14 | g.21393808G>C | CA388880641 | CHD8 | c.5150C>G (p.Pro1717Arg) c.3687C>G c.5987C>G (p.Pro1996Arg) n.5143C>G n.781C>G | |
14 | g.21393808G>T | CA388880640 | CHD8 | c.5150C>A (p.Pro1717Gln) c.3687C>A c.5987C>A (p.Pro1996Gln) n.5143C>A n.781C>A | |
14 | g.21393809G>A | CA388880643 | CHD8 | c.5149C>T (p.Pro1717Ser) c.3686C>T c.5986C>T (p.Pro1996Ser) n.5142C>T n.780C>T | gnomAD v4 |
14 | g.21393809G>C | CA388880644 | CHD8 | c.5149C>G (p.Pro1717Ala) c.3686C>G c.5986C>G (p.Pro1996Ala) n.5142C>G n.780C>G | |
14 | g.21393809G>T | CA388880645 | CHD8 | c.5149C>A (p.Pro1717Thr) c.3686C>A c.5986C>A (p.Pro1996Thr) n.5142C>A n.780C>A | COSMIC COSMIC |
14 | g.21393815_21393826del | CA2624078780 | CHD8 | c.5138_5149del (p.Arg1713_Ser1716del) c.3675_3686del c.5975_5986del (p.Arg1992_Ser1995del) n.5131_5142del n.769_780del | gnomAD v4 |
14 | g.21393810T>A | CA484995656 | CHD8 | c.5148A>T (p.Ser1716=) c.3685A>T c.5985A>T (p.Ser1995=) n.5141A>T n.779A>T | |
14 | g.21393810T>C | CA484995660 | CHD8 | c.5148A>G (p.Ser1716=) c.3685A>G c.5985A>G (p.Ser1995=) n.5141A>G n.779A>G | |
14 | g.21393810T>G | CA484995657 | CHD8 | c.5148A>C (p.Ser1716=) c.3685A>C c.5985A>C (p.Ser1995=) n.5141A>C n.779A>C | |
14 | g.21393811G>A | CA388880646 | CHD8 | c.5147C>T (p.Ser1716Leu) c.3684C>T c.5984C>T (p.Ser1995Leu) n.5140C>T n.778C>T | |
14 | g.21393811G>C | CA388880647 | CHD8 | c.5147C>G (p.Ser1716Ter) c.3684C>G c.5984C>G (p.Ser1995Ter) n.5140C>G n.778C>G | |
14 | g.21393811G>T | CA388880648 | CHD8 | c.5147C>A (p.Ser1716Ter) c.3684C>A c.5984C>A (p.Ser1995Ter) n.5140C>A n.778C>A | |
14 | g.21393812A= | CA2122484321 | CHD8 | c.5146T= (p.Ser1716=) c.3683T= c.5983T= (p.Ser1995=) n.5139T= n.777T= | |
14 | g.21393812A>C | CA388880649 | CHD8 | c.5146T>G (p.Ser1716Ala) c.3683T>G c.5983T>G (p.Ser1995Ala) n.5139T>G n.777T>G | |
14 | g.21393812A>G | CA388880650 | CHD8 | c.5146T>C (p.Ser1716Pro) c.3683T>C c.5983T>C (p.Ser1995Pro) n.5139T>C n.777T>C | |
14 | g.21393812A>T | CA257593297 | CHD8 | c.5146T>A (p.Ser1716Thr) c.3683T>A c.5983T>A (p.Ser1995Thr) n.5139T>A n.777T>A | dbSNP |
14 | g.21393813G>A | CA484995673 | CHD8 | c.5145C>T (p.Ala1715=) c.3682C>T c.5982C>T (p.Ala1994=) n.5138C>T n.776C>T | dbSNP |
14 | g.21393813G>C | CA484995674 | CHD8 | c.5145C>G (p.Ala1715=) c.3682C>G c.5982C>G (p.Ala1994=) n.5138C>G n.776C>G | |
14 | g.21393813G= | CA2122484322 | CHD8 | c.5145C= (p.Ala1715=) c.3682C= c.5982C= (p.Ala1994=) n.5138C= n.776C= | |
14 | g.21393813G>T | CA484995675 | CHD8 | c.5145C>A (p.Ala1715=) c.3682C>A c.5982C>A (p.Ala1994=) n.5138C>A n.776C>A | |
14 | g.21393814G>A | CA7090856 | CHD8 | c.5144C>T (p.Ala1715Val) c.3681C>T c.5981C>T (p.Ala1994Val) n.5137C>T n.775C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393814G>C | CA388880651 | CHD8 | c.5144C>G (p.Ala1715Gly) c.3681C>G c.5981C>G (p.Ala1994Gly) n.5137C>G n.775C>G | |
14 | g.21393814G= | CA2122484324 | CHD8 | c.5144C= (p.Ala1715=) c.3681C= c.5981C= (p.Ala1994=) n.5137C= n.775C= | |
14 | g.21393814G>T | CA388880652 | CHD8 | c.5144C>A (p.Ala1715Asp) c.3681C>A c.5981C>A (p.Ala1994Asp) n.5137C>A n.775C>A | |
14 | g.21393815C>A | CA388880653 | CHD8 | c.5143G>T (p.Ala1715Ser) c.3680G>T c.5980G>T (p.Ala1994Ser) n.5136G>T n.774G>T | |
14 | g.21393815C>G | CA388880654 | CHD8 | c.5143G>C (p.Ala1715Pro) c.3680G>C c.5980G>C (p.Ala1994Pro) n.5136G>C n.774G>C | |
14 | g.21393815C>T | CA388880655 | CHD8 | c.5143G>A (p.Ala1715Thr) c.3680G>A c.5980G>A (p.Ala1994Thr) n.5136G>A n.774G>A | gnomAD v4 |
14 | g.21393816A= | CA2122484329 | CHD8 | c.5142T= (p.Thr1714=) c.3679T= c.5979T= (p.Thr1993=) n.5135T= c.5985T= (p.Thr1995=) n.773T= | |
14 | g.21393816A>C | CA484995683 | CHD8 | c.5142T>G (p.Thr1714=) c.3679T>G c.5979T>G (p.Thr1993=) n.5135T>G c.5985T>G (p.Thr1995=) n.773T>G | |
14 | g.21393816A>G | CA7090857 | CHD8 | c.5142T>C (p.Thr1714=) c.3679T>C c.5979T>C (p.Thr1993=) n.5135T>C c.5985T>C (p.Thr1995=) n.773T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393816A>T | CA484995686 | CHD8 | c.5142T>A (p.Thr1714=) c.3679T>A c.5979T>A (p.Thr1993=) n.5135T>A c.5985T>A (p.Thr1995=) n.773T>A | |
14 | g.21393817G>A | CA388880656 | CHD8 | c.5141C>T (p.Thr1714Ile) c.3678C>T c.5978C>T (p.Thr1993Ile) n.5134C>T c.5984C>T (p.Thr1995Ile) n.772C>T | |
14 | g.21393817G>C | CA388880657 | CHD8 | c.5141C>G (p.Thr1714Ser) c.3678C>G c.5978C>G (p.Thr1993Ser) n.5134C>G c.5984C>G (p.Thr1995Ser) n.772C>G | gnomAD v4 |
14 | g.21393817G>T | CA388880658 | CHD8 | c.5141C>A (p.Thr1714Asn) c.3678C>A c.5978C>A (p.Thr1993Asn) n.5134C>A c.5984C>A (p.Thr1995Asn) n.772C>A | |
14 | g.21393818T>A | CA388880659 | CHD8 | c.5140A>T (p.Thr1714Ser) c.3677A>T c.5977A>T (p.Thr1993Ser) n.5133A>T c.5983A>T (p.Thr1995Ser) n.771A>T | |
14 | g.21393818T>C | CA7090858 | CHD8 | c.5140A>G (p.Thr1714Ala) c.3677A>G c.5977A>G (p.Thr1993Ala) n.5133A>G c.5983A>G (p.Thr1995Ala) n.771A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393818T>G | CA388880660 | CHD8 | c.5140A>C (p.Thr1714Pro) c.3677A>C c.5977A>C (p.Thr1993Pro) n.5133A>C c.5983A>C (p.Thr1995Pro) n.771A>C | |
14 | g.21393818T= | CA2122484330 | CHD8 | c.5140A= (p.Thr1714=) c.3677A= c.5977A= (p.Thr1993=) n.5133A= c.5983A= (p.Thr1995=) n.771A= | |
14 | g.21393819G>A | CA484995203 | CHD8 | c.5139C>T (p.Arg1713=) c.3676C>T c.5976C>T (p.Arg1992=) n.5132C>T c.5982C>T (p.Arg1994=) n.770C>T | |
14 | g.21393819G>C | CA484995204 | CHD8 | c.5139C>G (p.Arg1713=) c.3676C>G c.5976C>G (p.Arg1992=) n.5132C>G c.5982C>G (p.Arg1994=) n.770C>G | |
14 | g.21393819G>T | CA484995205 | CHD8 | c.5139C>A (p.Arg1713=) c.3676C>A c.5976C>A (p.Arg1992=) n.5132C>A c.5982C>A (p.Arg1994=) n.770C>A | |
14 | g.21393820C>A | CA7090860 | CHD8 | c.5138G>T (p.Arg1713Leu) c.3675G>T c.5975G>T (p.Arg1992Leu) n.5131G>T c.5981G>T (p.Arg1994Leu) n.769G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393820C= | CA2122484337 | CHD8 | c.5138G= (p.Arg1713=) c.3675G= c.5975G= (p.Arg1992=) n.5131G= c.5981G= (p.Arg1994=) n.769G= | |
14 | g.21393820C>G | CA388880661 | CHD8 | c.5138G>C (p.Arg1713Pro) c.3675G>C c.5975G>C (p.Arg1992Pro) n.5131G>C c.5981G>C (p.Arg1994Pro) n.769G>C | |
14 | g.21393820C>T | CA7090859 | CHD8 | c.5138G>A (p.Arg1713His) c.3675G>A c.5975G>A (p.Arg1992His) n.5131G>A c.5981G>A (p.Arg1994His) n.769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.21393821G>A | CA7090861 | CHD8 | c.5137C>T (p.Arg1713Cys) c.3674C>T c.5974C>T (p.Arg1992Cys) n.5130C>T c.5980C>T (p.Arg1994Cys) n.768C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393821G>C | CA7090862 | CHD8 | c.5137C>G (p.Arg1713Gly) c.3674C>G c.5974C>G (p.Arg1992Gly) n.5130C>G c.5980C>G (p.Arg1994Gly) n.768C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393821G= | CA2122484341 | CHD8 | c.5137C= (p.Arg1713=) c.3674C= c.5974C= (p.Arg1992=) n.5130C= c.5980C= (p.Arg1994=) n.768C= | |
14 | g.21393821G>T | CA388880662 | CHD8 | c.5137C>A (p.Arg1713Ser) c.3674C>A c.5974C>A (p.Arg1992Ser) n.5130C>A c.5980C>A (p.Arg1994Ser) n.768C>A | |
14 | g.21393822T>A | CA484995211 | CHD8 | c.5136A>T (p.Ser1712=) c.3673A>T c.5973A>T (p.Ser1991=) n.5129A>T c.5979A>T (p.Ser1993=) n.767A>T | |
14 | g.21393822T>C | CA484995215 | CHD8 | c.5136A>G (p.Ser1712=) c.3673A>G c.5973A>G (p.Ser1991=) n.5129A>G c.5979A>G (p.Ser1993=) n.767A>G | |
14 | g.21393822T>G | CA484995213 | CHD8 | c.5136A>C (p.Ser1712=) c.3673A>C c.5973A>C (p.Ser1991=) n.5129A>C c.5979A>C (p.Ser1993=) n.767A>C | |
14 | g.21393823G>A | CA388880663 | CHD8 | c.5135C>T (p.Ser1712Leu) c.3672C>T c.5972C>T (p.Ser1991Leu) n.5128C>T c.5978C>T (p.Ser1993Leu) n.766C>T | |
14 | g.21393823G>C | CA388880664 | CHD8 | c.5135C>G (p.Ser1712Ter) c.3672C>G c.5972C>G (p.Ser1991Ter) n.5128C>G c.5978C>G (p.Ser1993Ter) n.766C>G | |
14 | g.21393823G>T | CA388880665 | CHD8 | c.5135C>A (p.Ser1712Ter) c.3672C>A c.5972C>A (p.Ser1991Ter) n.5128C>A c.5978C>A (p.Ser1993Ter) n.766C>A | |
14 | g.21393824A>C | CA388880666 | CHD8 | c.5134T>G (p.Ser1712Ala) c.3671T>G c.5971T>G (p.Ser1991Ala) n.5127T>G c.5977T>G (p.Ser1993Ala) n.765T>G | gnomAD v4 |
14 | g.21393824A>G | CA388880667 | CHD8 | c.5134T>C (p.Ser1712Pro) c.3671T>C c.5971T>C (p.Ser1991Pro) n.5127T>C c.5977T>C (p.Ser1993Pro) n.765T>C | |
14 | g.21393824A>T | CA388880668 | CHD8 | c.5134T>A (p.Ser1712Thr) c.3671T>A c.5971T>A (p.Ser1991Thr) n.5127T>A c.5977T>A (p.Ser1993Thr) n.765T>A | |
14 | g.21393825G>A | CA484995227 | CHD8 | c.5133C>T (p.Thr1711=) c.3670C>T c.5970C>T (p.Thr1990=) n.5126C>T c.5976C>T (p.Thr1992=) n.764C>T | gnomAD v4 |
14 | g.21393825G>C | CA484995225 | CHD8 | c.5133C>G (p.Thr1711=) c.3670C>G c.5970C>G (p.Thr1990=) n.5126C>G c.5976C>G (p.Thr1992=) n.764C>G | dbSNP gnomAD v4 |
14 | g.21393825G= | CA2122484347 | CHD8 | c.5133C= (p.Thr1711=) c.3670C= c.5970C= (p.Thr1990=) n.5126C= c.5976C= (p.Thr1992=) n.764C= | |
14 | g.21393825G>T | CA484995226 | CHD8 | c.5133C>A (p.Thr1711=) c.3670C>A c.5970C>A (p.Thr1990=) n.5126C>A c.5976C>A (p.Thr1992=) n.764C>A | |
14 | g.21393826G>A | CA388880669 | CHD8 | c.5132C>T (p.Thr1711Ile) c.3669C>T c.5969C>T (p.Thr1990Ile) n.5125C>T c.5975C>T (p.Thr1992Ile) n.763C>T | |
14 | g.21393826G>C | CA388880670 | CHD8 | c.5132C>G (p.Thr1711Ser) c.3669C>G c.5969C>G (p.Thr1990Ser) n.5125C>G c.5975C>G (p.Thr1992Ser) n.763C>G | gnomAD v4 |
14 | g.21393826G>T | CA388880671 | CHD8 | c.5132C>A (p.Thr1711Asn) c.3669C>A c.5969C>A (p.Thr1990Asn) n.5125C>A c.5975C>A (p.Thr1992Asn) n.763C>A | |
14 | g.21393827T>A | CA388880674 | CHD8 | c.5131A>T (p.Thr1711Ser) c.3668A>T c.5968A>T (p.Thr1990Ser) n.5124A>T c.5974A>T (p.Thr1992Ser) n.762A>T | |
14 | g.21393827T>C | CA388880672 | CHD8 | c.5131A>G (p.Thr1711Ala) c.3668A>G c.5968A>G (p.Thr1990Ala) n.5124A>G c.5974A>G (p.Thr1992Ala) n.762A>G | |
14 | g.21393827T>G | CA388880673 | CHD8 | c.5131A>C (p.Thr1711Pro) c.3668A>C c.5968A>C (p.Thr1990Pro) n.5124A>C c.5974A>C (p.Thr1992Pro) n.762A>C | |
14 | g.21393828A>C | CA388880675 | CHD8 | c.5130T>G (p.Tyr1710Ter) c.3667T>G c.5967T>G (p.Tyr1989Ter) n.5123T>G c.5973T>G (p.Tyr1991Ter) n.761T>G | |
14 | g.21393828A>G | CA484995230 | CHD8 | c.5130T>C (p.Tyr1710=) c.3667T>C c.5967T>C (p.Tyr1989=) n.5123T>C c.5973T>C (p.Tyr1991=) n.761T>C | gnomAD v4 |
14 | g.21393828A>T | CA388880676 | CHD8 | c.5130T>A (p.Tyr1710Ter) c.3667T>A c.5967T>A (p.Tyr1989Ter) n.5123T>A c.5973T>A (p.Tyr1991Ter) n.761T>A | |
14 | g.21393829T>A | CA388880677 | CHD8 | c.5129A>T (p.Tyr1710Phe) c.3666A>T c.5966A>T (p.Tyr1989Phe) n.5122A>T c.5972A>T (p.Tyr1991Phe) n.760A>T | |
14 | g.21393829T>C | CA388880678 | CHD8 | c.5129A>G (p.Tyr1710Cys) c.3666A>G c.5966A>G (p.Tyr1989Cys) n.5122A>G c.5972A>G (p.Tyr1991Cys) n.760A>G | ClinVar dbSNP |
14 | g.21393829T>G | CA388880679 | CHD8 | c.5129A>C (p.Tyr1710Ser) c.3666A>C c.5966A>C (p.Tyr1989Ser) n.5122A>C c.5972A>C (p.Tyr1991Ser) n.760A>C | |
14 | g.21393829T= | CA2122484352 | CHD8 | c.5129A= (p.Tyr1710=) c.3666A= c.5966A= (p.Tyr1989=) n.5122A= c.5972A= (p.Tyr1991=) n.760A= | |
14 | g.21393830A>C | CA388880680 | CHD8 | c.5128T>G (p.Tyr1710Asp) c.3665T>G c.5965T>G (p.Tyr1989Asp) n.5121T>G c.5971T>G (p.Tyr1991Asp) n.759T>G | |
14 | g.21393830A>G | CA388880681 | CHD8 | c.5128T>C (p.Tyr1710His) c.3665T>C c.5965T>C (p.Tyr1989His) n.5121T>C c.5971T>C (p.Tyr1991His) n.759T>C | |
14 | g.21393830A>T | CA388880682 | CHD8 | c.5128T>A (p.Tyr1710Asn) c.3665T>A c.5965T>A (p.Tyr1989Asn) n.5121T>A c.5971T>A (p.Tyr1991Asn) n.759T>A | |
14 | g.21393831C>A | CA388880683 | CHD8 | c.5127G>T (p.Gln1709His) c.3664G>T c.5964G>T (p.Gln1988His) n.5120G>T c.5970G>T (p.Gln1990His) n.758G>T | |
14 | g.21393831C= | CA2122484360 | CHD8 | c.5127G= (p.Gln1709=) c.3664G= c.5964G= (p.Gln1988=) n.5120G= c.5970G= (p.Gln1990=) n.758G= | |
14 | g.21393831C>G | CA388880684 | CHD8 | c.5127G>C (p.Gln1709His) c.3664G>C c.5964G>C (p.Gln1988His) n.5120G>C c.5970G>C (p.Gln1990His) n.758G>C | |
14 | g.21393831C>T | CA484995234 | CHD8 | c.5127G>A (p.Gln1709=) c.3664G>A c.5964G>A (p.Gln1988=) n.5120G>A c.5970G>A (p.Gln1990=) n.758G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.21393832T>A | CA388880687 | CHD8 | c.5126A>T (p.Gln1709Leu) c.3663A>T c.5963A>T (p.Gln1988Leu) n.5119A>T c.5969A>T (p.Gln1990Leu) n.757A>T | |
14 | g.21393832T>C | CA388880686 | CHD8 | c.5126A>G (p.Gln1709Arg) c.3663A>G c.5963A>G (p.Gln1988Arg) n.5119A>G c.5969A>G (p.Gln1990Arg) n.757A>G | |
14 | g.21393832T>G | CA388880685 | CHD8 | c.5126A>C (p.Gln1709Pro) c.3663A>C c.5963A>C (p.Gln1988Pro) n.5119A>C c.5969A>C (p.Gln1990Pro) n.757A>C | |
14 | g.21393833G>A | CA388880688 | CHD8 | c.5125C>T (p.Gln1709Ter) c.3662C>T c.5962C>T (p.Gln1988Ter) n.5118C>T c.5968C>T (p.Gln1990Ter) n.756C>T | dbSNP |
14 | g.21393833G>C | CA388880689 | CHD8 | c.5125C>G (p.Gln1709Glu) c.3662C>G c.5962C>G (p.Gln1988Glu) n.5118C>G c.5968C>G (p.Gln1990Glu) n.756C>G | |
14 | g.21393833G= | CA2122484361 | CHD8 | c.5125C= (p.Gln1709=) c.3662C= c.5962C= (p.Gln1988=) n.5118C= c.5968C= (p.Gln1990=) n.756C= | |
14 | g.21393833G>T | CA388880690 | CHD8 | c.5125C>A (p.Gln1709Lys) c.3662C>A c.5962C>A (p.Gln1988Lys) n.5118C>A c.5968C>A (p.Gln1990Lys) n.756C>A | |
14 | g.21393834C>A | CA388880691 | CHD8 | c.5124G>T (p.Gln1708His) c.3661G>T c.5961G>T (p.Gln1987His) n.5117G>T c.5967G>T (p.Gln1989His) n.755G>T | |
14 | g.21393834C>G | CA388880692 | CHD8 | c.5124G>C (p.Gln1708His) c.3661G>C c.5961G>C (p.Gln1987His) n.5117G>C c.5967G>C (p.Gln1989His) n.755G>C | |
14 | g.21393834C>T | CA484995238 | CHD8 | c.5124G>A (p.Gln1708=) c.3661G>A c.5961G>A (p.Gln1987=) n.5117G>A c.5967G>A (p.Gln1989=) n.755G>A | |
14 | g.21393835T>A | CA388880693 | CHD8 | c.5123A>T (p.Gln1708Leu) c.3660A>T c.5960A>T (p.Gln1987Leu) n.5116A>T c.5966A>T (p.Gln1989Leu) n.754A>T | |
14 | g.21393835T>C | CA7090863 | CHD8 | c.5123A>G (p.Gln1708Arg) c.3660A>G c.5960A>G (p.Gln1987Arg) n.5116A>G c.5966A>G (p.Gln1989Arg) n.754A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393835T>G | CA388880694 | CHD8 | c.5123A>C (p.Gln1708Pro) c.3660A>C c.5960A>C (p.Gln1987Pro) n.5116A>C c.5966A>C (p.Gln1989Pro) n.754A>C | |
14 | g.21393835T= | CA2122484364 | CHD8 | c.5123A= (p.Gln1708=) c.3660A= c.5960A= (p.Gln1987=) n.5116A= c.5966A= (p.Gln1989=) n.754A= | |
14 | g.21393836G>A | CA388880695 | CHD8 | c.5122C>T (p.Gln1708Ter) c.3659C>T c.5959C>T (p.Gln1987Ter) n.5115C>T c.5965C>T (p.Gln1989Ter) n.753C>T | dbSNP |
14 | g.21393836G>C | CA388880696 | CHD8 | c.5122C>G (p.Gln1708Glu) c.3659C>G c.5959C>G (p.Gln1987Glu) n.5115C>G c.5965C>G (p.Gln1989Glu) n.753C>G | |
14 | g.21393836G= | CA2122484370 | CHD8 | c.5122C= (p.Gln1708=) c.3659C= c.5959C= (p.Gln1987=) n.5115C= c.5965C= (p.Gln1989=) n.753C= | |
14 | g.21393836G>T | CA388880697 | CHD8 | c.5122C>A (p.Gln1708Lys) c.3659C>A c.5959C>A (p.Gln1987Lys) n.5115C>A c.5965C>A (p.Gln1989Lys) n.753C>A |