Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60852956G>ACA461105126CHD7c.6231G>A (p.Arg2077=)
c.1717-9273G>A (n.1717-9273G>A)
c.6321G>A (p.Arg2107=)
c.4308G>A (p.Arg1436=)
c.3858G>A (p.Arg1286=)
c.3066G>A (p.Arg1022=)
 ClinVar dbSNP gnomAD v4
8g.60852956G>CCA371324492CHD7c.6231G>C (p.Arg2077Ser)
c.1717-9273G>C (n.1717-9273G>C)
c.6321G>C (p.Arg2107Ser)
c.4308G>C (p.Arg1436Ser)
c.3858G>C (p.Arg1286Ser)
c.3066G>C (p.Arg1022Ser)
8g.60852956G=CA1788103033CHD7c.6231G= (p.Arg2077=)
c.1717-9273G= (n.1717-9273G=)
c.6321G= (p.Arg2107=)
c.4308G= (p.Arg1436=)
c.3858G= (p.Arg1286=)
c.3066G= (p.Arg1022=)
8g.60852956G>TCA371324493CHD7c.6231G>T (p.Arg2077Ser)
c.1717-9273G>T (n.1717-9273G>T)
c.6321G>T (p.Arg2107Ser)
c.4308G>T (p.Arg1436Ser)
c.3858G>T (p.Arg1286Ser)
c.3066G>T (p.Arg1022Ser)
8g.60852957C>ACA371324494CHD7c.6232C>A (p.Leu2078Ile)
c.1717-9272C>A (n.1717-9272C>A)
c.6322C>A (p.Leu2108Ile)
c.4309C>A (p.Leu1437Ile)
c.3859C>A (p.Leu1287Ile)
c.3067C>A (p.Leu1023Ile)
8g.60852957C>GCA371324495CHD7c.6232C>G (p.Leu2078Val)
c.1717-9272C>G (n.1717-9272C>G)
c.6322C>G (p.Leu2108Val)
c.4309C>G (p.Leu1437Val)
c.3859C>G (p.Leu1287Val)
c.3067C>G (p.Leu1023Val)
8g.60852957C>TCA371324496CHD7c.6232C>T (p.Leu2078Phe)
c.1717-9272C>T (n.1717-9272C>T)
c.6322C>T (p.Leu2108Phe)
c.4309C>T (p.Leu1437Phe)
c.3859C>T (p.Leu1287Phe)
c.3067C>T (p.Leu1023Phe)
8g.60852958T>ACA371324499CHD7c.6233T>A (p.Leu2078His)
c.1717-9271T>A (n.1717-9271T>A)
c.6323T>A (p.Leu2108His)
c.4310T>A (p.Leu1437His)
c.3860T>A (p.Leu1287His)
c.3068T>A (p.Leu1023His)
8g.60852958T>CCA371324498CHD7c.6233T>C (p.Leu2078Pro)
c.1717-9271T>C (n.1717-9271T>C)
c.6323T>C (p.Leu2108Pro)
c.4310T>C (p.Leu1437Pro)
c.3860T>C (p.Leu1287Pro)
c.3068T>C (p.Leu1023Pro)
8g.60852958T>GCA371324497CHD7c.6233T>G (p.Leu2078Arg)
c.1717-9271T>G (n.1717-9271T>G)
c.6323T>G (p.Leu2108Arg)
c.4310T>G (p.Leu1437Arg)
c.3860T>G (p.Leu1287Arg)
c.3068T>G (p.Leu1023Arg)
8g.60852959T>ACA461105129CHD7c.6234T>A (p.Leu2078=)
c.1717-9270T>A (n.1717-9270T>A)
c.6324T>A (p.Leu2108=)
c.4311T>A (p.Leu1437=)
c.3861T>A (p.Leu1287=)
c.3069T>A (p.Leu1023=)
8g.60852959T>CCA461105127CHD7c.6234T>C (p.Leu2078=)
c.1717-9270T>C (n.1717-9270T>C)
c.6324T>C (p.Leu2108=)
c.4311T>C (p.Leu1437=)
c.3861T>C (p.Leu1287=)
c.3069T>C (p.Leu1023=)
8g.60852959T>GCA461105128CHD7c.6234T>G (p.Leu2078=)
c.1717-9270T>G (n.1717-9270T>G)
c.6324T>G (p.Leu2108=)
c.4311T>G (p.Leu1437=)
c.3861T>G (p.Leu1287=)
c.3069T>G (p.Leu1023=)
8g.60852960A>CCA371324500CHD7c.6235A>C (p.Lys2079Gln)
c.1717-9269A>C (n.1717-9269A>C)
c.6325A>C (p.Lys2109Gln)
c.4312A>C (p.Lys1438Gln)
c.3862A>C (p.Lys1288Gln)
c.3070A>C (p.Lys1024Gln)
8g.60852960A>GCA371324501CHD7c.6235A>G (p.Lys2079Glu)
c.1717-9269A>G (n.1717-9269A>G)
c.6325A>G (p.Lys2109Glu)
c.4312A>G (p.Lys1438Glu)
c.3862A>G (p.Lys1288Glu)
c.3070A>G (p.Lys1024Glu)
 gnomAD v4
8g.60852960A>TCA371324502CHD7c.6235A>T (p.Lys2079Ter)
c.1717-9269A>T (n.1717-9269A>T)
c.6325A>T (p.Lys2109Ter)
c.4312A>T (p.Lys1438Ter)
c.3862A>T (p.Lys1288Ter)
c.3070A>T (p.Lys1024Ter)
8g.60852961delCA2580078852CHD7c.6236del (p.Lys2079SerfsTer?)
c.1717-9268del (n.1717-9268del)
c.6326del (p.Lys2109SerfsTer?)
c.4313del (p.Lys1438SerfsTer?)
c.3863del (p.Lys1288SerfsTer?)
c.3071del (p.Lys1024SerfsTer?)
 ClinVar
8g.60852961A=CA1788103040CHD7c.6236A= (p.Lys2079=)
c.1717-9268A= (n.1717-9268A=)
c.6326A= (p.Lys2109=)
c.4313A= (p.Lys1438=)
c.3863A= (p.Lys1288=)
c.3071A= (p.Lys1024=)
8g.60852961A>CCA4760555CHD7c.6236A>C (p.Lys2079Thr)
c.1717-9268A>C (n.1717-9268A>C)
c.6326A>C (p.Lys2109Thr)
c.4313A>C (p.Lys1438Thr)
c.3863A>C (p.Lys1288Thr)
c.3071A>C (p.Lys1024Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60852961A>GCA371324503CHD7c.6236A>G (p.Lys2079Arg)
c.1717-9268A>G (n.1717-9268A>G)
c.6326A>G (p.Lys2109Arg)
c.4313A>G (p.Lys1438Arg)
c.3863A>G (p.Lys1288Arg)
c.3071A>G (p.Lys1024Arg)
8g.60852961A>TCA371324504CHD7c.6236A>T (p.Lys2079Met)
c.1717-9268A>T (n.1717-9268A>T)
c.6326A>T (p.Lys2109Met)
c.4313A>T (p.Lys1438Met)
c.3863A>T (p.Lys1288Met)
c.3071A>T (p.Lys1024Met)
8g.60852962G>ACA4760556CHD7c.6237G>A (p.Lys2079=)
c.1717-9267G>A (n.1717-9267G>A)
c.6327G>A (p.Lys2109=)
c.4314G>A (p.Lys1438=)
c.3864G>A (p.Lys1288=)
c.3072G>A (p.Lys1024=)
 ClinVar dbSNP ExAC gnomAD v2
8g.60852962G>CCA371324506CHD7c.6237G>C (p.Lys2079Asn)
c.1717-9267G>C (n.1717-9267G>C)
c.6327G>C (p.Lys2109Asn)
c.4314G>C (p.Lys1438Asn)
c.3864G>C (p.Lys1288Asn)
c.3072G>C (p.Lys1024Asn)
8g.60852962G=CA1788103053CHD7c.6237G= (p.Lys2079=)
c.1717-9267G= (n.1717-9267G=)
c.6327G= (p.Lys2109=)
c.4314G= (p.Lys1438=)
c.3864G= (p.Lys1288=)
c.3072G= (p.Lys1024=)
8g.60852962G>TCA371324505CHD7c.6237G>T (p.Lys2079Asn)
c.1717-9267G>T (n.1717-9267G>T)
c.6327G>T (p.Lys2109Asn)
c.4314G>T (p.Lys1438Asn)
c.3864G>T (p.Lys1288Asn)
c.3072G>T (p.Lys1024Asn)
 dbSNP gnomAD v4
8g.60852963C>ACA371324507CHD7c.6238C>A (p.Leu2080Ile)
c.1717-9266C>A (n.1717-9266C>A)
c.6328C>A (p.Leu2110Ile)
c.4315C>A (p.Leu1439Ile)
c.3865C>A (p.Leu1289Ile)
c.3073C>A (p.Leu1025Ile)
8g.60852963C=CA1788103060CHD7c.6238C= (p.Leu2080=)
c.1717-9266C= (n.1717-9266C=)
c.6328C= (p.Leu2110=)
c.4315C= (p.Leu1439=)
c.3865C= (p.Leu1289=)
c.3073C= (p.Leu1025=)
8g.60852963C>GCA371324508CHD7c.6238C>G (p.Leu2080Val)
c.1717-9266C>G (n.1717-9266C>G)
c.6328C>G (p.Leu2110Val)
c.4315C>G (p.Leu1439Val)
c.3865C>G (p.Leu1289Val)
c.3073C>G (p.Leu1025Val)
 dbSNP
8g.60852963C>TCA371324509CHD7c.6238C>T (p.Leu2080Phe)
c.1717-9266C>T (n.1717-9266C>T)
c.6328C>T (p.Leu2110Phe)
c.4315C>T (p.Leu1439Phe)
c.3865C>T (p.Leu1289Phe)
c.3073C>T (p.Leu1025Phe)
8g.60852964T>ACA371324510CHD7c.6239T>A (p.Leu2080His)
c.1717-9265T>A (n.1717-9265T>A)
c.6329T>A (p.Leu2110His)
c.4316T>A (p.Leu1439His)
c.3866T>A (p.Leu1289His)
c.3074T>A (p.Leu1025His)
8g.60852964T>CCA16618676CHD7c.6239T>C (p.Leu2080Pro)
c.1717-9265T>C (n.1717-9265T>C)
c.6329T>C (p.Leu2110Pro)
c.4316T>C (p.Leu1439Pro)
c.3866T>C (p.Leu1289Pro)
c.3074T>C (p.Leu1025Pro)
 ClinVar dbSNP
8g.60852964T>GCA371324511CHD7c.6239T>G (p.Leu2080Arg)
c.1717-9265T>G (n.1717-9265T>G)
c.6329T>G (p.Leu2110Arg)
c.4316T>G (p.Leu1439Arg)
c.3866T>G (p.Leu1289Arg)
c.3074T>G (p.Leu1025Arg)
8g.60852964T=CA1788103065CHD7c.6239T= (p.Leu2080=)
c.1717-9265T= (n.1717-9265T=)
c.6329T= (p.Leu2110=)
c.4316T= (p.Leu1439=)
c.3866T= (p.Leu1289=)
c.3074T= (p.Leu1025=)
8g.60852965C>ACA461105133CHD7c.6240C>A (p.Leu2080=)
c.1717-9264C>A (n.1717-9264C>A)
c.6330C>A (p.Leu2110=)
c.4317C>A (p.Leu1439=)
c.3867C>A (p.Leu1289=)
c.3075C>A (p.Leu1025=)
8g.60852965C>GCA461105134CHD7c.6240C>G (p.Leu2080=)
c.1717-9264C>G (n.1717-9264C>G)
c.6330C>G (p.Leu2110=)
c.4317C>G (p.Leu1439=)
c.3867C>G (p.Leu1289=)
c.3075C>G (p.Leu1025=)
 ClinVar gnomAD v4
8g.60852965C>TCA461105135CHD7c.6240C>T (p.Leu2080=)
c.1717-9264C>T (n.1717-9264C>T)
c.6330C>T (p.Leu2110=)
c.4317C>T (p.Leu1439=)
c.3867C>T (p.Leu1289=)
c.3075C>T (p.Leu1025=)
 COSMIC
8g.60852966T>ACA371324512CHD7c.6241T>A (p.Cys2081Ser)
c.1717-9263T>A (n.1717-9263T>A)
c.6331T>A (p.Cys2111Ser)
c.4318T>A (p.Cys1440Ser)
c.3868T>A (p.Cys1290Ser)
c.3076T>A (p.Cys1026Ser)
8g.60852966T>CCA371324513CHD7c.6241T>C (p.Cys2081Arg)
c.1717-9263T>C (n.1717-9263T>C)
c.6331T>C (p.Cys2111Arg)
c.4318T>C (p.Cys1440Arg)
c.3868T>C (p.Cys1290Arg)
c.3076T>C (p.Cys1026Arg)
 ClinVar dbSNP
8g.60852966T>GCA371324514CHD7c.6241T>G (p.Cys2081Gly)
c.1717-9263T>G (n.1717-9263T>G)
c.6331T>G (p.Cys2111Gly)
c.4318T>G (p.Cys1440Gly)
c.3868T>G (p.Cys1290Gly)
c.3076T>G (p.Cys1026Gly)
8g.60852967delCA2697549947CHD7c.6242del (p.Cys2081SerfsTer?)
c.1717-9262del (n.1717-9262del)
c.6332del (p.Cys2111SerfsTer?)
c.4319del (p.Cys1440SerfsTer?)
c.3869del (p.Cys1290SerfsTer?)
c.3077del (p.Cys1026SerfsTer?)
 ClinVar
8g.60852967G>ACA371324515CHD7c.6242G>A (p.Cys2081Tyr)
c.1717-9262G>A (n.1717-9262G>A)
c.6332G>A (p.Cys2111Tyr)
c.4319G>A (p.Cys1440Tyr)
c.3869G>A (p.Cys1290Tyr)
c.3077G>A (p.Cys1026Tyr)
8g.60852967G>CCA371324516CHD7c.6242G>C (p.Cys2081Ser)
c.1717-9262G>C (n.1717-9262G>C)
c.6332G>C (p.Cys2111Ser)
c.4319G>C (p.Cys1440Ser)
c.3869G>C (p.Cys1290Ser)
c.3077G>C (p.Cys1026Ser)
8g.60852967G>TCA371324517CHD7c.6242G>T (p.Cys2081Phe)
c.1717-9262G>T (n.1717-9262G>T)
c.6332G>T (p.Cys2111Phe)
c.4319G>T (p.Cys1440Phe)
c.3869G>T (p.Cys1290Phe)
c.3077G>T (p.Cys1026Phe)
8g.60852968C>ACA10603119CHD7c.6243C>A (p.Cys2081Ter)
c.1717-9261C>A (n.1717-9261C>A)
c.6333C>A (p.Cys2111Ter)
c.4320C>A (p.Cys1440Ter)
c.3870C>A (p.Cys1290Ter)
c.3078C>A (p.Cys1026Ter)
 ClinVar dbSNP
8g.60852968C=CA1788103069CHD7c.6243C= (p.Cys2081=)
c.1717-9261C= (n.1717-9261C=)
c.6333C= (p.Cys2111=)
c.4320C= (p.Cys1440=)
c.3870C= (p.Cys1290=)
c.3078C= (p.Cys1026=)
8g.60852968C>GCA371324518CHD7c.6243C>G (p.Cys2081Trp)
c.1717-9261C>G (n.1717-9261C>G)
c.6333C>G (p.Cys2111Trp)
c.4320C>G (p.Cys1440Trp)
c.3870C>G (p.Cys1290Trp)
c.3078C>G (p.Cys1026Trp)
8g.60852968C>TCA461105139CHD7c.6243C>T (p.Cys2081=)
c.1717-9261C>T (n.1717-9261C>T)
c.6333C>T (p.Cys2111=)
c.4320C>T (p.Cys1440=)
c.3870C>T (p.Cys1290=)
c.3078C>T (p.Cys1026=)
8g.60852969C>ACA371324519CHD7c.6244C>A (p.Gln2082Lys)
c.1717-9260C>A (n.1717-9260C>A)
c.6334C>A (p.Gln2112Lys)
c.4321C>A (p.Gln1441Lys)
c.3871C>A (p.Gln1291Lys)
c.3079C>A (p.Gln1027Lys)
8g.60852969C>GCA371324522CHD7c.6244C>G (p.Gln2082Glu)
c.1717-9260C>G (n.1717-9260C>G)
c.6334C>G (p.Gln2112Glu)
c.4321C>G (p.Gln1441Glu)
c.3871C>G (p.Gln1291Glu)
c.3079C>G (p.Gln1027Glu)
8g.60852969C>TCA371324520CHD7c.6244C>T (p.Gln2082Ter)
c.1717-9260C>T (n.1717-9260C>T)
c.6334C>T (p.Gln2112Ter)
c.4321C>T (p.Gln1441Ter)
c.3871C>T (p.Gln1291Ter)
c.3079C>T (p.Gln1027Ter)

Number of alleles fetched