Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853278G>ACA371325700CHD7c.6553G>A (p.Glu2185Lys)
c.1717-8951G>A (n.1717-8951G>A)
c.6643G>A (p.Glu2215Lys)
c.4630G>A (p.Glu1544Lys)
c.4180G>A (p.Glu1394Lys)
c.3388G>A (p.Glu1130Lys)
 gnomAD v4
8g.60853278G>CCA371325698CHD7c.6553G>C (p.Glu2185Gln)
c.1717-8951G>C (n.1717-8951G>C)
c.6643G>C (p.Glu2215Gln)
c.4630G>C (p.Glu1544Gln)
c.4180G>C (p.Glu1394Gln)
c.3388G>C (p.Glu1130Gln)
8g.60853278G=CA1788104418CHD7c.6553G= (p.Glu2185=)
c.1717-8951G= (n.1717-8951G=)
c.6643G= (p.Glu2215=)
c.4630G= (p.Glu1544=)
c.4180G= (p.Glu1394=)
c.3388G= (p.Glu1130=)
8g.60853278G>TCA4760606CHD7c.6553G>T (p.Glu2185Ter)
c.1717-8951G>T (n.1717-8951G>T)
c.6643G>T (p.Glu2215Ter)
c.4630G>T (p.Glu1544Ter)
c.4180G>T (p.Glu1394Ter)
c.3388G>T (p.Glu1130Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853278_60853279delinsTTCA2573053032CHD7c.6553_6554delinsTT (p.Glu2185Leu)
c.1717-8951_1717-8950delinsTT (n.1717-8951_1717-8950delinsTT)
c.6643_6644delinsTT (p.Glu2215Leu)
c.4630_4631delinsTT (p.Glu1544Leu)
c.4180_4181delinsTT (p.Glu1394Leu)
c.3388_3389delinsTT (p.Glu1130Leu)
 ClinVar dbSNP
8g.60853279A=CA1788104425CHD7c.6554A= (p.Glu2185=)
c.1717-8950A= (n.1717-8950A=)
c.6644A= (p.Glu2215=)
c.4631A= (p.Glu1544=)
c.4181A= (p.Glu1394=)
c.3389A= (p.Glu1130=)
8g.60853279A>CCA371325702CHD7c.6554A>C (p.Glu2185Ala)
c.1717-8950A>C (n.1717-8950A>C)
c.6644A>C (p.Glu2215Ala)
c.4631A>C (p.Glu1544Ala)
c.4181A>C (p.Glu1394Ala)
c.3389A>C (p.Glu1130Ala)
8g.60853279A>GCA371325704CHD7c.6554A>G (p.Glu2185Gly)
c.1717-8950A>G (n.1717-8950A>G)
c.6644A>G (p.Glu2215Gly)
c.4631A>G (p.Glu1544Gly)
c.4181A>G (p.Glu1394Gly)
c.3389A>G (p.Glu1130Gly)
8g.60853279A>TCA4760607CHD7c.6554A>T (p.Glu2185Val)
c.1717-8950A>T (n.1717-8950A>T)
c.6644A>T (p.Glu2215Val)
c.4631A>T (p.Glu1544Val)
c.4181A>T (p.Glu1394Val)
c.3389A>T (p.Glu1130Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853280G>ACA461105151CHD7c.6555G>A (p.Glu2185=)
c.1717-8949G>A (n.1717-8949G>A)
c.6645G>A (p.Glu2215=)
c.4632G>A (p.Glu1544=)
c.4182G>A (p.Glu1394=)
c.3390G>A (p.Glu1130=)
 dbSNP gnomAD v2 gnomAD v4
8g.60853280G>CCA371325707CHD7c.6555G>C (p.Glu2185Asp)
c.1717-8949G>C (n.1717-8949G>C)
c.6645G>C (p.Glu2215Asp)
c.4632G>C (p.Glu1544Asp)
c.4182G>C (p.Glu1394Asp)
c.3390G>C (p.Glu1130Asp)
8g.60853280G=CA1788104432CHD7c.6555G= (p.Glu2185=)
c.1717-8949G= (n.1717-8949G=)
c.6645G= (p.Glu2215=)
c.4632G= (p.Glu1544=)
c.4182G= (p.Glu1394=)
c.3390G= (p.Glu1130=)
8g.60853280G>TCA371325708CHD7c.6555G>T (p.Glu2185Asp)
c.1717-8949G>T (n.1717-8949G>T)
c.6645G>T (p.Glu2215Asp)
c.4632G>T (p.Glu1544Asp)
c.4182G>T (p.Glu1394Asp)
c.3390G>T (p.Glu1130Asp)
8g.60853281A>CCA371325709CHD7c.6556A>C (p.Lys2186Gln)
c.1717-8948A>C (n.1717-8948A>C)
c.6646A>C (p.Lys2216Gln)
c.4633A>C (p.Lys1545Gln)
c.4183A>C (p.Lys1395Gln)
c.3391A>C (p.Lys1131Gln)
8g.60853281A>GCA371325711CHD7c.6556A>G (p.Lys2186Glu)
c.1717-8948A>G (n.1717-8948A>G)
c.6646A>G (p.Lys2216Glu)
c.4633A>G (p.Lys1545Glu)
c.4183A>G (p.Lys1395Glu)
c.3391A>G (p.Lys1131Glu)
8g.60853281A>TCA371325712CHD7c.6556A>T (p.Lys2186Ter)
c.1717-8948A>T (n.1717-8948A>T)
c.6646A>T (p.Lys2216Ter)
c.4633A>T (p.Lys1545Ter)
c.4183A>T (p.Lys1395Ter)
c.3391A>T (p.Lys1131Ter)
8g.60853282A=CA1788104436CHD7c.6557A= (p.Lys2186=)
c.1717-8947A= (n.1717-8947A=)
c.6647A= (p.Lys2216=)
c.4634A= (p.Lys1545=)
c.4184A= (p.Lys1395=)
c.3392A= (p.Lys1131=)
8g.60853282A>CCA371325714CHD7c.6557A>C (p.Lys2186Thr)
c.1717-8947A>C (n.1717-8947A>C)
c.6647A>C (p.Lys2216Thr)
c.4634A>C (p.Lys1545Thr)
c.4184A>C (p.Lys1395Thr)
c.3392A>C (p.Lys1131Thr)
8g.60853282A>GCA371325716CHD7c.6557A>G (p.Lys2186Arg)
c.1717-8947A>G (n.1717-8947A>G)
c.6647A>G (p.Lys2216Arg)
c.4634A>G (p.Lys1545Arg)
c.4184A>G (p.Lys1395Arg)
c.3392A>G (p.Lys1131Arg)
8g.60853282A>TCA4760608CHD7c.6557A>T (p.Lys2186Ile)
c.1717-8947A>T (n.1717-8947A>T)
c.6647A>T (p.Lys2216Ile)
c.4634A>T (p.Lys1545Ile)
c.4184A>T (p.Lys1395Ile)
c.3392A>T (p.Lys1131Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853283A>CCA371325718CHD7c.6558A>C (p.Lys2186Asn)
c.1717-8946A>C (n.1717-8946A>C)
c.6648A>C (p.Lys2216Asn)
c.4635A>C (p.Lys1545Asn)
c.4185A>C (p.Lys1395Asn)
c.3393A>C (p.Lys1131Asn)
8g.60853283A>GCA461105154CHD7c.6558A>G (p.Lys2186=)
c.1717-8946A>G (n.1717-8946A>G)
c.6648A>G (p.Lys2216=)
c.4635A>G (p.Lys1545=)
c.4185A>G (p.Lys1395=)
c.3393A>G (p.Lys1131=)
8g.60853283A>TCA371325719CHD7c.6558A>T (p.Lys2186Asn)
c.1717-8946A>T (n.1717-8946A>T)
c.6648A>T (p.Lys2216Asn)
c.4635A>T (p.Lys1545Asn)
c.4185A>T (p.Lys1395Asn)
c.3393A>T (p.Lys1131Asn)
8g.60853284T>ACA371325721CHD7c.6559T>A (p.Cys2187Ser)
c.1717-8945T>A (n.1717-8945T>A)
c.6649T>A (p.Cys2217Ser)
c.4636T>A (p.Cys1546Ser)
c.4186T>A (p.Cys1396Ser)
c.3394T>A (p.Cys1132Ser)
8g.60853284T>CCA371325723CHD7c.6559T>C (p.Cys2187Arg)
c.1717-8945T>C (n.1717-8945T>C)
c.6649T>C (p.Cys2217Arg)
c.4636T>C (p.Cys1546Arg)
c.4186T>C (p.Cys1396Arg)
c.3394T>C (p.Cys1132Arg)
 gnomAD v4
8g.60853284T>GCA371325722CHD7c.6559T>G (p.Cys2187Gly)
c.1717-8945T>G (n.1717-8945T>G)
c.6649T>G (p.Cys2217Gly)
c.4636T>G (p.Cys1546Gly)
c.4186T>G (p.Cys1396Gly)
c.3394T>G (p.Cys1132Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.60853284T=CA1788104438CHD7c.6559T= (p.Cys2187=)
c.1717-8945T= (n.1717-8945T=)
c.6649T= (p.Cys2217=)
c.4636T= (p.Cys1546=)
c.4186T= (p.Cys1396=)
c.3394T= (p.Cys1132=)
8g.60853285G>ACA371325724CHD7c.6560G>A (p.Cys2187Tyr)
c.1717-8944G>A (n.1717-8944G>A)
c.6650G>A (p.Cys2217Tyr)
c.4637G>A (p.Cys1546Tyr)
c.4187G>A (p.Cys1396Tyr)
c.3395G>A (p.Cys1132Tyr)
 dbSNP gnomAD v4
8g.60853285G>CCA371325725CHD7c.6560G>C (p.Cys2187Ser)
c.1717-8944G>C (n.1717-8944G>C)
c.6650G>C (p.Cys2217Ser)
c.4637G>C (p.Cys1546Ser)
c.4187G>C (p.Cys1396Ser)
c.3395G>C (p.Cys1132Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853285G=CA1788104443CHD7c.6560G= (p.Cys2187=)
c.1717-8944G= (n.1717-8944G=)
c.6650G= (p.Cys2217=)
c.4637G= (p.Cys1546=)
c.4187G= (p.Cys1396=)
c.3395G= (p.Cys1132=)
8g.60853285G>TCA371325727CHD7c.6560G>T (p.Cys2187Phe)
c.1717-8944G>T (n.1717-8944G>T)
c.6650G>T (p.Cys2217Phe)
c.4637G>T (p.Cys1546Phe)
c.4187G>T (p.Cys1396Phe)
c.3395G>T (p.Cys1132Phe)
8g.60853286T>ACA371325729CHD7c.6561T>A (p.Cys2187Ter)
c.1717-8943T>A (n.1717-8943T>A)
c.6651T>A (p.Cys2217Ter)
c.4638T>A (p.Cys1546Ter)
c.4188T>A (p.Cys1396Ter)
c.3396T>A (p.Cys1132Ter)
 ClinVar dbSNP
8g.60853286T>CCA461105159CHD7c.6561T>C (p.Cys2187=)
c.1717-8943T>C (n.1717-8943T>C)
c.6651T>C (p.Cys2217=)
c.4638T>C (p.Cys1546=)
c.4188T>C (p.Cys1396=)
c.3396T>C (p.Cys1132=)
8g.60853286T>GCA371325730CHD7c.6561T>G (p.Cys2187Trp)
c.1717-8943T>G (n.1717-8943T>G)
c.6651T>G (p.Cys2217Trp)
c.4638T>G (p.Cys1546Trp)
c.4188T>G (p.Cys1396Trp)
c.3396T>G (p.Cys1132Trp)
8g.60853286T=CA1788104447CHD7c.6561T= (p.Cys2187=)
c.1717-8943T= (n.1717-8943T=)
c.6651T= (p.Cys2217=)
c.4638T= (p.Cys1546=)
c.4188T= (p.Cys1396=)
c.3396T= (p.Cys1132=)
8g.60853287G>ACA371325732CHD7c.6562G>A (p.Glu2188Lys)
c.1717-8942G>A (n.1717-8942G>A)
c.6652G>A (p.Glu2218Lys)
c.4639G>A (p.Glu1547Lys)
c.4189G>A (p.Glu1397Lys)
c.3397G>A (p.Glu1133Lys)
8g.60853287G>CCA371325734CHD7c.6562G>C (p.Glu2188Gln)
c.1717-8942G>C (n.1717-8942G>C)
c.6652G>C (p.Glu2218Gln)
c.4639G>C (p.Glu1547Gln)
c.4189G>C (p.Glu1397Gln)
c.3397G>C (p.Glu1133Gln)
8g.60853287G>TCA371325736CHD7c.6562G>T (p.Glu2188Ter)
c.1717-8942G>T (n.1717-8942G>T)
c.6652G>T (p.Glu2218Ter)
c.4639G>T (p.Glu1547Ter)
c.4189G>T (p.Glu1397Ter)
c.3397G>T (p.Glu1133Ter)
8g.60853288A>CCA371325737CHD7c.6563A>C (p.Glu2188Ala)
c.1717-8941A>C (n.1717-8941A>C)
c.6653A>C (p.Glu2218Ala)
c.4640A>C (p.Glu1547Ala)
c.4190A>C (p.Glu1397Ala)
c.3398A>C (p.Glu1133Ala)
8g.60853288A>GCA371325739CHD7c.6563A>G (p.Glu2188Gly)
c.1717-8941A>G (n.1717-8941A>G)
c.6653A>G (p.Glu2218Gly)
c.4640A>G (p.Glu1547Gly)
c.4190A>G (p.Glu1397Gly)
c.3398A>G (p.Glu1133Gly)
8g.60853288A>TCA371325741CHD7c.6563A>T (p.Glu2188Val)
c.1717-8941A>T (n.1717-8941A>T)
c.6653A>T (p.Glu2218Val)
c.4640A>T (p.Glu1547Val)
c.4190A>T (p.Glu1397Val)
c.3398A>T (p.Glu1133Val)
8g.60853289G>ACA4760609CHD7c.6564G>A (p.Glu2188=)
c.1717-8940G>A (n.1717-8940G>A)
c.6654G>A (p.Glu2218=)
c.4641G>A (p.Glu1547=)
c.4191G>A (p.Glu1397=)
c.3399G>A (p.Glu1133=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853289G>CCA371325743CHD7c.6564G>C (p.Glu2188Asp)
c.1717-8940G>C (n.1717-8940G>C)
c.6654G>C (p.Glu2218Asp)
c.4641G>C (p.Glu1547Asp)
c.4191G>C (p.Glu1397Asp)
c.3399G>C (p.Glu1133Asp)
8g.60853289G=CA1788104459CHD7c.6564G= (p.Glu2188=)
c.1717-8940G= (n.1717-8940G=)
c.6654G= (p.Glu2218=)
c.4641G= (p.Glu1547=)
c.4191G= (p.Glu1397=)
c.3399G= (p.Glu1133=)
8g.60853289G>TCA371325742CHD7c.6564G>T (p.Glu2188Asp)
c.1717-8940G>T (n.1717-8940G>T)
c.6654G>T (p.Glu2218Asp)
c.4641G>T (p.Glu1547Asp)
c.4191G>T (p.Glu1397Asp)
c.3399G>T (p.Glu1133Asp)
8g.60853290G>ACA371325744CHD7c.6565G>A (p.Gly2189Ser)
c.1717-8939G>A (n.1717-8939G>A)
c.6655G>A (p.Gly2219Ser)
c.4642G>A (p.Gly1548Ser)
c.4192G>A (p.Gly1398Ser)
c.3400G>A (p.Gly1134Ser)
 ClinVar
8g.60853290G>CCA371325746CHD7c.6565G>C (p.Gly2189Arg)
c.1717-8939G>C (n.1717-8939G>C)
c.6655G>C (p.Gly2219Arg)
c.4642G>C (p.Gly1548Arg)
c.4192G>C (p.Gly1398Arg)
c.3400G>C (p.Gly1134Arg)
8g.60853290G>TCA371325748CHD7c.6565G>T (p.Gly2189Cys)
c.1717-8939G>T (n.1717-8939G>T)
c.6655G>T (p.Gly2219Cys)
c.4642G>T (p.Gly1548Cys)
c.4192G>T (p.Gly1398Cys)
c.3400G>T (p.Gly1134Cys)
8g.60853291G>ACA371325752CHD7c.6566G>A (p.Gly2189Asp)
c.1717-8938G>A (n.1717-8938G>A)
c.6656G>A (p.Gly2219Asp)
c.4643G>A (p.Gly1548Asp)
c.4193G>A (p.Gly1398Asp)
c.3401G>A (p.Gly1134Asp)
8g.60853291G>CCA371325753CHD7c.6566G>C (p.Gly2189Ala)
c.1717-8938G>C (n.1717-8938G>C)
c.6656G>C (p.Gly2219Ala)
c.4643G>C (p.Gly1548Ala)
c.4193G>C (p.Gly1398Ala)
c.3401G>C (p.Gly1134Ala)
8g.60853291G>TCA371325755CHD7c.6566G>T (p.Gly2189Val)
c.1717-8938G>T (n.1717-8938G>T)
c.6656G>T (p.Gly2219Val)
c.4643G>T (p.Gly1548Val)
c.4193G>T (p.Gly1398Val)
c.3401G>T (p.Gly1134Val)
8g.60853292C>ACA461105161CHD7c.6567C>A (p.Gly2189=)
c.1717-8937C>A (n.1717-8937C>A)
c.6657C>A (p.Gly2219=)
c.4644C>A (p.Gly1548=)
c.4194C>A (p.Gly1398=)
c.3402C>A (p.Gly1134=)
8g.60853292C=CA1788104474CHD7c.6567C= (p.Gly2189=)
c.1717-8937C= (n.1717-8937C=)
c.6657C= (p.Gly2219=)
c.4644C= (p.Gly1548=)
c.4194C= (p.Gly1398=)
c.3402C= (p.Gly1134=)
8g.60853292C>GCA461105162CHD7c.6567C>G (p.Gly2189=)
c.1717-8937C>G (n.1717-8937C>G)
c.6657C>G (p.Gly2219=)
c.4644C>G (p.Gly1548=)
c.4194C>G (p.Gly1398=)
c.3402C>G (p.Gly1134=)
8g.60853292C>TCA461105164CHD7c.6567C>T (p.Gly2189=)
c.1717-8937C>T (n.1717-8937C>T)
c.6657C>T (p.Gly2219=)
c.4644C>T (p.Gly1548=)
c.4194C>T (p.Gly1398=)
c.3402C>T (p.Gly1134=)
 dbSNP gnomAD v4
8g.60853293A>CCA371325761CHD7c.6568A>C (p.Lys2190Gln)
c.1717-8936A>C (n.1717-8936A>C)
c.6658A>C (p.Lys2220Gln)
c.4645A>C (p.Lys1549Gln)
c.4195A>C (p.Lys1399Gln)
c.3403A>C (p.Lys1135Gln)
8g.60853293A>GCA371325757CHD7c.6568A>G (p.Lys2190Glu)
c.1717-8936A>G (n.1717-8936A>G)
c.6658A>G (p.Lys2220Glu)
c.4645A>G (p.Lys1549Glu)
c.4195A>G (p.Lys1399Glu)
c.3403A>G (p.Lys1135Glu)
 gnomAD v4
8g.60853293A>TCA371325759CHD7c.6568A>T (p.Lys2190Ter)
c.1717-8936A>T (n.1717-8936A>T)
c.6658A>T (p.Lys2220Ter)
c.4645A>T (p.Lys1549Ter)
c.4195A>T (p.Lys1399Ter)
c.3403A>T (p.Lys1135Ter)
8g.60853294A>CCA371325763CHD7c.6569A>C (p.Lys2190Thr)
c.1717-8935A>C (n.1717-8935A>C)
c.6659A>C (p.Lys2220Thr)
c.4646A>C (p.Lys1549Thr)
c.4196A>C (p.Lys1399Thr)
c.3404A>C (p.Lys1135Thr)
8g.60853294A>GCA371325764CHD7c.6569A>G (p.Lys2190Arg)
c.1717-8935A>G (n.1717-8935A>G)
c.6659A>G (p.Lys2220Arg)
c.4646A>G (p.Lys1549Arg)
c.4196A>G (p.Lys1399Arg)
c.3404A>G (p.Lys1135Arg)
8g.60853294A>TCA371325765CHD7c.6569A>T (p.Lys2190Ile)
c.1717-8935A>T (n.1717-8935A>T)
c.6659A>T (p.Lys2220Ile)
c.4646A>T (p.Lys1549Ile)
c.4196A>T (p.Lys1399Ile)
c.3404A>T (p.Lys1135Ile)
8g.60853295A=CA1788104486CHD7c.6570A= (p.Lys2190=)
c.1717-8934A= (n.1717-8934A=)
c.6660A= (p.Lys2220=)
c.4647A= (p.Lys1549=)
c.4197A= (p.Lys1399=)
c.3405A= (p.Lys1135=)
8g.60853295A>CCA371325767CHD7c.6570A>C (p.Lys2190Asn)
c.1717-8934A>C (n.1717-8934A>C)
c.6660A>C (p.Lys2220Asn)
c.4647A>C (p.Lys1549Asn)
c.4197A>C (p.Lys1399Asn)
c.3405A>C (p.Lys1135Asn)
8g.60853295A>GCA12764106CHD7c.6570A>G (p.Lys2190=)
c.1717-8934A>G (n.1717-8934A>G)
c.6660A>G (p.Lys2220=)
c.4647A>G (p.Lys1549=)
c.4197A>G (p.Lys1399=)
c.3405A>G (p.Lys1135=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853295A>TCA371325769CHD7c.6570A>T (p.Lys2190Asn)
c.1717-8934A>T (n.1717-8934A>T)
c.6660A>T (p.Lys2220Asn)
c.4647A>T (p.Lys1549Asn)
c.4197A>T (p.Lys1399Asn)
c.3405A>T (p.Lys1135Asn)
8g.60853296delCA2695209429CHD7c.6571del (p.Glu2191LysfsTer24)
c.1717-8933del (n.1717-8933del)
c.6661del (p.Glu2221LysfsTer24)
c.4648del (p.Glu1550LysfsTer24)
c.4198del (p.Glu1400LysfsTer24)
c.3406del (p.Glu1136LysfsTer24)
8g.60853296G>ACA233729CHD7c.6571G>A (p.Glu2191Lys)
c.1717-8933G>A (n.1717-8933G>A)
c.6661G>A (p.Glu2221Lys)
c.4648G>A (p.Glu1550Lys)
c.4198G>A (p.Glu1400Lys)
c.3406G>A (p.Glu1136Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853296G>CCA371325770CHD7c.6571G>C (p.Glu2191Gln)
c.1717-8933G>C (n.1717-8933G>C)
c.6661G>C (p.Glu2221Gln)
c.4648G>C (p.Glu1550Gln)
c.4198G>C (p.Glu1400Gln)
c.3406G>C (p.Glu1136Gln)
 COSMIC
8g.60853296G=CA1788104494CHD7c.6571G= (p.Glu2191=)
c.1717-8933G= (n.1717-8933G=)
c.6661G= (p.Glu2221=)
c.4648G= (p.Glu1550=)
c.4198G= (p.Glu1400=)
c.3406G= (p.Glu1136=)
8g.60853296G>TCA371325771CHD7c.6571G>T (p.Glu2191Ter)
c.1717-8933G>T (n.1717-8933G>T)
c.6661G>T (p.Glu2221Ter)
c.4648G>T (p.Glu1550Ter)
c.4198G>T (p.Glu1400Ter)
c.3406G>T (p.Glu1136Ter)
8g.60853297A>CCA371325775CHD7c.6572A>C (p.Glu2191Ala)
c.1717-8932A>C (n.1717-8932A>C)
c.6662A>C (p.Glu2221Ala)
c.4649A>C (p.Glu1550Ala)
c.4199A>C (p.Glu1400Ala)
c.3407A>C (p.Glu1136Ala)
8g.60853297A>GCA371325776CHD7c.6572A>G (p.Glu2191Gly)
c.1717-8932A>G (n.1717-8932A>G)
c.6662A>G (p.Glu2221Gly)
c.4649A>G (p.Glu1550Gly)
c.4199A>G (p.Glu1400Gly)
c.3407A>G (p.Glu1136Gly)
8g.60853297A>TCA371325777CHD7c.6572A>T (p.Glu2191Val)
c.1717-8932A>T (n.1717-8932A>T)
c.6662A>T (p.Glu2221Val)
c.4649A>T (p.Glu1550Val)
c.4199A>T (p.Glu1400Val)
c.3407A>T (p.Glu1136Val)
8g.60853298A=CA1788104502CHD7c.6573A= (p.Glu2191=)
c.1717-8931A= (n.1717-8931A=)
c.6663A= (p.Glu2221=)
c.4650A= (p.Glu1550=)
c.4200A= (p.Glu1400=)
c.3408A= (p.Glu1136=)
8g.60853298A>CCA371325779CHD7c.6573A>C (p.Glu2191Asp)
c.1717-8931A>C (n.1717-8931A>C)
c.6663A>C (p.Glu2221Asp)
c.4650A>C (p.Glu1550Asp)
c.4200A>C (p.Glu1400Asp)
c.3408A>C (p.Glu1136Asp)
 dbSNP
8g.60853298A>GCA461105169CHD7c.6573A>G (p.Glu2191=)
c.1717-8931A>G (n.1717-8931A>G)
c.6663A>G (p.Glu2221=)
c.4650A>G (p.Glu1550=)
c.4200A>G (p.Glu1400=)
c.3408A>G (p.Glu1136=)
8g.60853298A>TCA371325780CHD7c.6573A>T (p.Glu2191Asp)
c.1717-8931A>T (n.1717-8931A>T)
c.6663A>T (p.Glu2221Asp)
c.4650A>T (p.Glu1550Asp)
c.4200A>T (p.Glu1400Asp)
c.3408A>T (p.Glu1136Asp)
8g.60853299G>ACA371325782CHD7c.6574G>A (p.Glu2192Lys)
c.1717-8930G>A (n.1717-8930G>A)
c.6664G>A (p.Glu2222Lys)
c.4651G>A (p.Glu1551Lys)
c.4201G>A (p.Glu1401Lys)
c.3409G>A (p.Glu1137Lys)
8g.60853299G>CCA4760610CHD7c.6574G>C (p.Glu2192Gln)
c.1717-8930G>C (n.1717-8930G>C)
c.6664G>C (p.Glu2222Gln)
c.4651G>C (p.Glu1551Gln)
c.4201G>C (p.Glu1401Gln)
c.3409G>C (p.Glu1137Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853299G=CA1788104506CHD7c.6574G= (p.Glu2192=)
c.1717-8930G= (n.1717-8930G=)
c.6664G= (p.Glu2222=)
c.4651G= (p.Glu1551=)
c.4201G= (p.Glu1401=)
c.3409G= (p.Glu1137=)
8g.60853299G>TCA371325784CHD7c.6574G>T (p.Glu2192Ter)
c.1717-8930G>T (n.1717-8930G>T)
c.6664G>T (p.Glu2222Ter)
c.4651G>T (p.Glu1551Ter)
c.4201G>T (p.Glu1401Ter)
c.3409G>T (p.Glu1137Ter)
 ClinVar dbSNP
8g.60853300A=CA1788104518CHD7c.6575A= (p.Glu2192=)
c.1717-8929A= (n.1717-8929A=)
c.6665A= (p.Glu2222=)
c.4652A= (p.Glu1551=)
c.4202A= (p.Glu1401=)
c.3410A= (p.Glu1137=)
8g.60853300A>CCA371325785CHD7c.6575A>C (p.Glu2192Ala)
c.1717-8929A>C (n.1717-8929A>C)
c.6665A>C (p.Glu2222Ala)
c.4652A>C (p.Glu1551Ala)
c.4202A>C (p.Glu1401Ala)
c.3410A>C (p.Glu1137Ala)
8g.60853300A>GCA371325787CHD7c.6575A>G (p.Glu2192Gly)
c.1717-8929A>G (n.1717-8929A>G)
c.6665A>G (p.Glu2222Gly)
c.4652A>G (p.Glu1551Gly)
c.4202A>G (p.Glu1401Gly)
c.3410A>G (p.Glu1137Gly)
 dbSNP
8g.60853300A>TCA371325789CHD7c.6575A>T (p.Glu2192Val)
c.1717-8929A>T (n.1717-8929A>T)
c.6665A>T (p.Glu2222Val)
c.4652A>T (p.Glu1551Val)
c.4202A>T (p.Glu1401Val)
c.3410A>T (p.Glu1137Val)
8g.60853301G>ACA461105175CHD7c.6576G>A (p.Glu2192=)
c.1717-8928G>A (n.1717-8928G>A)
c.6666G>A (p.Glu2222=)
c.4653G>A (p.Glu1551=)
c.4203G>A (p.Glu1401=)
c.3411G>A (p.Glu1137=)
8g.60853301G>CCA371325790CHD7c.6576G>C (p.Glu2192Asp)
c.1717-8928G>C (n.1717-8928G>C)
c.6666G>C (p.Glu2222Asp)
c.4653G>C (p.Glu1551Asp)
c.4203G>C (p.Glu1401Asp)
c.3411G>C (p.Glu1137Asp)
8g.60853301G=CA1788104524CHD7c.6576G= (p.Glu2192=)
c.1717-8928G= (n.1717-8928G=)
c.6666G= (p.Glu2222=)
c.4653G= (p.Glu1551=)
c.4203G= (p.Glu1401=)
c.3411G= (p.Glu1137=)
8g.60853301G>TCA371325791CHD7c.6576G>T (p.Glu2192Asp)
c.1717-8928G>T (n.1717-8928G>T)
c.6666G>T (p.Glu2222Asp)
c.4653G>T (p.Glu1551Asp)
c.4203G>T (p.Glu1401Asp)
c.3411G>T (p.Glu1137Asp)
8g.60853302G>ACA177354162CHD7c.6577G>A (p.Glu2193Lys)
c.1717-8927G>A (n.1717-8927G>A)
c.6667G>A (p.Glu2223Lys)
c.4654G>A (p.Glu1552Lys)
c.4204G>A (p.Glu1402Lys)
c.3412G>A (p.Glu1138Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853302G>CCA371325794CHD7c.6577G>C (p.Glu2193Gln)
c.1717-8927G>C (n.1717-8927G>C)
c.6667G>C (p.Glu2223Gln)
c.4654G>C (p.Glu1552Gln)
c.4204G>C (p.Glu1402Gln)
c.3412G>C (p.Glu1138Gln)
8g.60853302G=CA1788104537CHD7c.6577G= (p.Glu2193=)
c.1717-8927G= (n.1717-8927G=)
c.6667G= (p.Glu2223=)
c.4654G= (p.Glu1552=)
c.4204G= (p.Glu1402=)
c.3412G= (p.Glu1138=)
8g.60853302G>TCA371325793CHD7c.6577G>T (p.Glu2193Ter)
c.1717-8927G>T (n.1717-8927G>T)
c.6667G>T (p.Glu2223Ter)
c.4654G>T (p.Glu1552Ter)
c.4204G>T (p.Glu1402Ter)
c.3412G>T (p.Glu1138Ter)
8g.60853302_60853303insGCAAAGCA853913591CHD7c.6577_6578insGCAAAG (p.Glu2192_Glu2193insGlyLys)
c.1717-8927_1717-8926insGCAAAG (n.1717-8927_1717-8926insGCAAAG)
c.6667_6668insGCAAAG (p.Glu2222_Glu2223insGlyLys)
c.4654_4655insGCAAAG (p.Glu1551_Glu1552insGlyLys)
c.4204_4205insGCAAAG (p.Glu1401_Glu1402insGlyLys)
c.3412_3413insGCAAAG (p.Glu1137_Glu1138insGlyLys)
 dbSNP
8g.60853303A>CCA371325796CHD7c.6578A>C (p.Glu2193Ala)
c.1717-8926A>C (n.1717-8926A>C)
c.6668A>C (p.Glu2223Ala)
c.4655A>C (p.Glu1552Ala)
c.4205A>C (p.Glu1402Ala)
c.3413A>C (p.Glu1138Ala)
8g.60853303A>GCA371325798CHD7c.6578A>G (p.Glu2193Gly)
c.1717-8926A>G (n.1717-8926A>G)
c.6668A>G (p.Glu2223Gly)
c.4655A>G (p.Glu1552Gly)
c.4205A>G (p.Glu1402Gly)
c.3413A>G (p.Glu1138Gly)
8g.60853303A>TCA371325799CHD7c.6578A>T (p.Glu2193Val)
c.1717-8926A>T (n.1717-8926A>T)
c.6668A>T (p.Glu2223Val)
c.4655A>T (p.Glu1552Val)
c.4205A>T (p.Glu1402Val)
c.3413A>T (p.Glu1138Val)
8g.60853304A>CCA371325801CHD7c.6579A>C (p.Glu2193Asp)
c.1717-8925A>C (n.1717-8925A>C)
c.6669A>C (p.Glu2223Asp)
c.4656A>C (p.Glu1552Asp)
c.4206A>C (p.Glu1402Asp)
c.3414A>C (p.Glu1138Asp)
8g.60853304A>GCA461105180CHD7c.6579A>G (p.Glu2193=)
c.1717-8925A>G (n.1717-8925A>G)
c.6669A>G (p.Glu2223=)
c.4656A>G (p.Glu1552=)
c.4206A>G (p.Glu1402=)
c.3414A>G (p.Glu1138=)
8g.60853304A>TCA371325802CHD7c.6579A>T (p.Glu2193Asp)
c.1717-8925A>T (n.1717-8925A>T)
c.6669A>T (p.Glu2223Asp)
c.4656A>T (p.Glu1552Asp)
c.4206A>T (p.Glu1402Asp)
c.3414A>T (p.Glu1138Asp)
 gnomAD v4
8g.60853305G>ACA371325804CHD7c.6580G>A (p.Glu2194Lys)
c.1717-8924G>A (n.1717-8924G>A)
c.6670G>A (p.Glu2224Lys)
c.4657G>A (p.Glu1553Lys)
c.4207G>A (p.Glu1403Lys)
c.3415G>A (p.Glu1139Lys)
8g.60853305G>CCA371325806CHD7c.6580G>C (p.Glu2194Gln)
c.1717-8924G>C (n.1717-8924G>C)
c.6670G>C (p.Glu2224Gln)
c.4657G>C (p.Glu1553Gln)
c.4207G>C (p.Glu1403Gln)
c.3415G>C (p.Glu1139Gln)
8g.60853305G>TCA371325807CHD7c.6580G>T (p.Glu2194Ter)
c.1717-8924G>T (n.1717-8924G>T)
c.6670G>T (p.Glu2224Ter)
c.4657G>T (p.Glu1553Ter)
c.4207G>T (p.Glu1403Ter)
c.3415G>T (p.Glu1139Ter)
8g.60853306A>CCA371325808CHD7c.6581A>C (p.Glu2194Ala)
c.1717-8923A>C (n.1717-8923A>C)
c.6671A>C (p.Glu2224Ala)
c.4658A>C (p.Glu1553Ala)
c.4208A>C (p.Glu1403Ala)
c.3416A>C (p.Glu1139Ala)
8g.60853306A>GCA371325809CHD7c.6581A>G (p.Glu2194Gly)
c.1717-8923A>G (n.1717-8923A>G)
c.6671A>G (p.Glu2224Gly)
c.4658A>G (p.Glu1553Gly)
c.4208A>G (p.Glu1403Gly)
c.3416A>G (p.Glu1139Gly)
8g.60853306A>TCA371325810CHD7c.6581A>T (p.Glu2194Val)
c.1717-8923A>T (n.1717-8923A>T)
c.6671A>T (p.Glu2224Val)
c.4658A>T (p.Glu1553Val)
c.4208A>T (p.Glu1403Val)
c.3416A>T (p.Glu1139Val)
8g.60853307A=CA1788104544CHD7c.6582A= (p.Glu2194=)
c.1717-8922A= (n.1717-8922A=)
c.6672A= (p.Glu2224=)
c.4659A= (p.Glu1553=)
c.4209A= (p.Glu1403=)
c.3417A= (p.Glu1139=)
8g.60853307A>CCA371325812CHD7c.6582A>C (p.Glu2194Asp)
c.1717-8922A>C (n.1717-8922A>C)
c.6672A>C (p.Glu2224Asp)
c.4659A>C (p.Glu1553Asp)
c.4209A>C (p.Glu1403Asp)
c.3417A>C (p.Glu1139Asp)
8g.60853307A>GCA461105186CHD7c.6582A>G (p.Glu2194=)
c.1717-8922A>G (n.1717-8922A>G)
c.6672A>G (p.Glu2224=)
c.4659A>G (p.Glu1553=)
c.4209A>G (p.Glu1403=)
c.3417A>G (p.Glu1139=)
 dbSNP gnomAD v4
8g.60853307A>TCA371325814CHD7c.6582A>T (p.Glu2194Asp)
c.1717-8922A>T (n.1717-8922A>T)
c.6672A>T (p.Glu2224Asp)
c.4659A>T (p.Glu1553Asp)
c.4209A>T (p.Glu1403Asp)
c.3417A>T (p.Glu1139Asp)
8g.60853308G>ACA371325817CHD7c.6583G>A (p.Glu2195Lys)
c.1717-8921G>A (n.1717-8921G>A)
c.6673G>A (p.Glu2225Lys)
c.4660G>A (p.Glu1554Lys)
c.4210G>A (p.Glu1404Lys)
c.3418G>A (p.Glu1140Lys)
8g.60853308G>CCA4760611CHD7c.6583G>C (p.Glu2195Gln)
c.1717-8921G>C (n.1717-8921G>C)
c.6673G>C (p.Glu2225Gln)
c.4660G>C (p.Glu1554Gln)
c.4210G>C (p.Glu1404Gln)
c.3418G>C (p.Glu1140Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853308G=CA1788104548CHD7c.6583G= (p.Glu2195=)
c.1717-8921G= (n.1717-8921G=)
c.6673G= (p.Glu2225=)
c.4660G= (p.Glu1554=)
c.4210G= (p.Glu1404=)
c.3418G= (p.Glu1140=)
8g.60853308G>TCA371325815CHD7c.6583G>T (p.Glu2195Ter)
c.1717-8921G>T (n.1717-8921G>T)
c.6673G>T (p.Glu2225Ter)
c.4660G>T (p.Glu1554Ter)
c.4210G>T (p.Glu1404Ter)
c.3418G>T (p.Glu1140Ter)
8g.60853309A>CCA371325819CHD7c.6584A>C (p.Glu2195Ala)
c.1717-8920A>C (n.1717-8920A>C)
c.6674A>C (p.Glu2225Ala)
c.4661A>C (p.Glu1554Ala)
c.4211A>C (p.Glu1404Ala)
c.3419A>C (p.Glu1140Ala)
8g.60853309A>GCA371325820CHD7c.6584A>G (p.Glu2195Gly)
c.1717-8920A>G (n.1717-8920A>G)
c.6674A>G (p.Glu2225Gly)
c.4661A>G (p.Glu1554Gly)
c.4211A>G (p.Glu1404Gly)
c.3419A>G (p.Glu1140Gly)
8g.60853309A>TCA371325822CHD7c.6584A>T (p.Glu2195Val)
c.1717-8920A>T (n.1717-8920A>T)
c.6674A>T (p.Glu2225Val)
c.4661A>T (p.Glu1554Val)
c.4211A>T (p.Glu1404Val)
c.3419A>T (p.Glu1140Val)
8g.60853310A>CCA371325824CHD7c.6585A>C (p.Glu2195Asp)
c.1717-8919A>C (n.1717-8919A>C)
c.6675A>C (p.Glu2225Asp)
c.4662A>C (p.Glu1554Asp)
c.4212A>C (p.Glu1404Asp)
c.3420A>C (p.Glu1140Asp)
8g.60853310A>GCA461105375CHD7c.6585A>G (p.Glu2195=)
c.1717-8919A>G (n.1717-8919A>G)
c.6675A>G (p.Glu2225=)
c.4662A>G (p.Glu1554=)
c.4212A>G (p.Glu1404=)
c.3420A>G (p.Glu1140=)
8g.60853310A>TCA371325825CHD7c.6585A>T (p.Glu2195Asp)
c.1717-8919A>T (n.1717-8919A>T)
c.6675A>T (p.Glu2225Asp)
c.4662A>T (p.Glu1554Asp)
c.4212A>T (p.Glu1404Asp)
c.3420A>T (p.Glu1140Asp)
8g.60853311A>CCA371325827CHD7c.6586A>C (p.Thr2196Pro)
c.1717-8918A>C (n.1717-8918A>C)
c.6676A>C (p.Thr2226Pro)
c.4663A>C (p.Thr1555Pro)
c.4213A>C (p.Thr1405Pro)
c.3421A>C (p.Thr1141Pro)
8g.60853311A>GCA371325828CHD7c.6586A>G (p.Thr2196Ala)
c.1717-8918A>G (n.1717-8918A>G)
c.6676A>G (p.Thr2226Ala)
c.4663A>G (p.Thr1555Ala)
c.4213A>G (p.Thr1405Ala)
c.3421A>G (p.Thr1141Ala)
8g.60853311A>TCA371325830CHD7c.6586A>T (p.Thr2196Ser)
c.1717-8918A>T (n.1717-8918A>T)
c.6676A>T (p.Thr2226Ser)
c.4663A>T (p.Thr1555Ser)
c.4213A>T (p.Thr1405Ser)
c.3421A>T (p.Thr1141Ser)
8g.60853312C>ACA371325832CHD7c.6587C>A (p.Thr2196Asn)
c.1717-8917C>A (n.1717-8917C>A)
c.6677C>A (p.Thr2226Asn)
c.4664C>A (p.Thr1555Asn)
c.4214C>A (p.Thr1405Asn)
c.3422C>A (p.Thr1141Asn)
 gnomAD v4
8g.60853312C>GCA371325834CHD7c.6587C>G (p.Thr2196Ser)
c.1717-8917C>G (n.1717-8917C>G)
c.6677C>G (p.Thr2226Ser)
c.4664C>G (p.Thr1555Ser)
c.4214C>G (p.Thr1405Ser)
c.3422C>G (p.Thr1141Ser)
8g.60853312C>TCA371325835CHD7c.6587C>T (p.Thr2196Ile)
c.1717-8917C>T (n.1717-8917C>T)
c.6677C>T (p.Thr2226Ile)
c.4664C>T (p.Thr1555Ile)
c.4214C>T (p.Thr1405Ile)
c.3422C>T (p.Thr1141Ile)
 COSMIC
8g.60853312_60853314delinsTACA2695209430CHD7c.6587_6589delinsTA (p.Thr2196IlefsTer19)
c.1717-8917_1717-8915delinsTA (n.1717-8917_1717-8915delinsTA)
c.6677_6679delinsTA (p.Thr2226IlefsTer19)
c.4664_4666delinsTA (p.Thr1555IlefsTer19)
c.4214_4216delinsTA (p.Thr1405IlefsTer19)
c.3422_3424delinsTA (p.Thr1141IlefsTer19)
8g.60853313C>ACA461105385CHD7c.6588C>A (p.Thr2196=)
c.1717-8916C>A (n.1717-8916C>A)
c.6678C>A (p.Thr2226=)
c.4665C>A (p.Thr1555=)
c.4215C>A (p.Thr1405=)
c.3423C>A (p.Thr1141=)
8g.60853313C=CA1788104554CHD7c.6588C= (p.Thr2196=)
c.1717-8916C= (n.1717-8916C=)
c.6678C= (p.Thr2226=)
c.4665C= (p.Thr1555=)
c.4215C= (p.Thr1405=)
c.3423C= (p.Thr1141=)
8g.60853313C>GCA461105386CHD7c.6588C>G (p.Thr2196=)
c.1717-8916C>G (n.1717-8916C>G)
c.6678C>G (p.Thr2226=)
c.4665C>G (p.Thr1555=)
c.4215C>G (p.Thr1405=)
c.3423C>G (p.Thr1141=)
 dbSNP gnomAD v2
8g.60853313C>TCA4760612CHD7c.6588C>T (p.Thr2196=)
c.1717-8916C>T (n.1717-8916C>T)
c.6678C>T (p.Thr2226=)
c.4665C>T (p.Thr1555=)
c.4215C>T (p.Thr1405=)
c.3423C>T (p.Thr1141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853314G>ACA4760613CHD7c.6589G>A (p.Asp2197Asn)
c.1717-8915G>A (n.1717-8915G>A)
c.6679G>A (p.Asp2227Asn)
c.4666G>A (p.Asp1556Asn)
c.4216G>A (p.Asp1406Asn)
c.3424G>A (p.Asp1142Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853314G>CCA371325839CHD7c.6589G>C (p.Asp2197His)
c.1717-8915G>C (n.1717-8915G>C)
c.6679G>C (p.Asp2227His)
c.4666G>C (p.Asp1556His)
c.4216G>C (p.Asp1406His)
c.3424G>C (p.Asp1142His)
8g.60853314G=CA1788104570CHD7c.6589G= (p.Asp2197=)
c.1717-8915G= (n.1717-8915G=)
c.6679G= (p.Asp2227=)
c.4666G= (p.Asp1556=)
c.4216G= (p.Asp1406=)
c.3424G= (p.Asp1142=)
8g.60853314G>TCA371325837CHD7c.6589G>T (p.Asp2197Tyr)
c.1717-8915G>T (n.1717-8915G>T)
c.6679G>T (p.Asp2227Tyr)
c.4666G>T (p.Asp1556Tyr)
c.4216G>T (p.Asp1406Tyr)
c.3424G>T (p.Asp1142Tyr)
 gnomAD v4
8g.60853315A=CA1788104578CHD7c.6590A= (p.Asp2197=)
c.1717-8914A= (n.1717-8914A=)
c.6680A= (p.Asp2227=)
c.4667A= (p.Asp1556=)
c.4217A= (p.Asp1406=)
c.3425A= (p.Asp1142=)
8g.60853315A>CCA371325843CHD7c.6590A>C (p.Asp2197Ala)
c.1717-8914A>C (n.1717-8914A>C)
c.6680A>C (p.Asp2227Ala)
c.4667A>C (p.Asp1556Ala)
c.4217A>C (p.Asp1406Ala)
c.3425A>C (p.Asp1142Ala)
8g.60853315A>GCA371325841CHD7c.6590A>G (p.Asp2197Gly)
c.1717-8914A>G (n.1717-8914A>G)
c.6680A>G (p.Asp2227Gly)
c.4667A>G (p.Asp1556Gly)
c.4217A>G (p.Asp1406Gly)
c.3425A>G (p.Asp1142Gly)
 dbSNP
8g.60853315A>TCA371325845CHD7c.6590A>T (p.Asp2197Val)
c.1717-8914A>T (n.1717-8914A>T)
c.6680A>T (p.Asp2227Val)
c.4667A>T (p.Asp1556Val)
c.4217A>T (p.Asp1406Val)
c.3425A>T (p.Asp1142Val)
8g.60853316T>ACA371325846CHD7c.6591T>A (p.Asp2197Glu)
c.1717-8913T>A (n.1717-8913T>A)
c.6681T>A (p.Asp2227Glu)
c.4668T>A (p.Asp1556Glu)
c.4218T>A (p.Asp1406Glu)
c.3426T>A (p.Asp1142Glu)
 dbSNP gnomAD v4
8g.60853316T>CCA461105392CHD7c.6591T>C (p.Asp2197=)
c.1717-8913T>C (n.1717-8913T>C)
c.6681T>C (p.Asp2227=)
c.4668T>C (p.Asp1556=)
c.4218T>C (p.Asp1406=)
c.3426T>C (p.Asp1142=)
 gnomAD v4
8g.60853316T>GCA371325847CHD7c.6591T>G (p.Asp2197Glu)
c.1717-8913T>G (n.1717-8913T>G)
c.6681T>G (p.Asp2227Glu)
c.4668T>G (p.Asp1556Glu)
c.4218T>G (p.Asp1406Glu)
c.3426T>G (p.Asp1142Glu)
8g.60853316T=CA1788104581CHD7c.6591T= (p.Asp2197=)
c.1717-8913T= (n.1717-8913T=)
c.6681T= (p.Asp2227=)
c.4668T= (p.Asp1556=)
c.4218T= (p.Asp1406=)
c.3426T= (p.Asp1142=)
8g.60853317G>ACA371325849CHD7c.6592G>A (p.Gly2198Ser)
c.1717-8912G>A (n.1717-8912G>A)
c.6682G>A (p.Gly2228Ser)
c.4669G>A (p.Gly1557Ser)
c.4219G>A (p.Gly1407Ser)
c.3427G>A (p.Gly1143Ser)
8g.60853317G>CCA371325851CHD7c.6592G>C (p.Gly2198Arg)
c.1717-8912G>C (n.1717-8912G>C)
c.6682G>C (p.Gly2228Arg)
c.4669G>C (p.Gly1557Arg)
c.4219G>C (p.Gly1407Arg)
c.3427G>C (p.Gly1143Arg)
8g.60853317G>TCA371325853CHD7c.6592G>T (p.Gly2198Cys)
c.1717-8912G>T (n.1717-8912G>T)
c.6682G>T (p.Gly2228Cys)
c.4669G>T (p.Gly1557Cys)
c.4219G>T (p.Gly1407Cys)
c.3427G>T (p.Gly1143Cys)
8g.60853318G>ACA371325854CHD7c.6593G>A (p.Gly2198Asp)
c.1717-8911G>A (n.1717-8911G>A)
c.6683G>A (p.Gly2228Asp)
c.4670G>A (p.Gly1557Asp)
c.4220G>A (p.Gly1407Asp)
c.3428G>A (p.Gly1143Asp)
 dbSNP
8g.60853318G>CCA371325855CHD7c.6593G>C (p.Gly2198Ala)
c.1717-8911G>C (n.1717-8911G>C)
c.6683G>C (p.Gly2228Ala)
c.4670G>C (p.Gly1557Ala)
c.4220G>C (p.Gly1407Ala)
c.3428G>C (p.Gly1143Ala)
8g.60853318G=CA1788104586CHD7c.6593G= (p.Gly2198=)
c.1717-8911G= (n.1717-8911G=)
c.6683G= (p.Gly2228=)
c.4670G= (p.Gly1557=)
c.4220G= (p.Gly1407=)
c.3428G= (p.Gly1143=)
8g.60853318G>TCA371325857CHD7c.6593G>T (p.Gly2198Val)
c.1717-8911G>T (n.1717-8911G>T)
c.6683G>T (p.Gly2228Val)
c.4670G>T (p.Gly1557Val)
c.4220G>T (p.Gly1407Val)
c.3428G>T (p.Gly1143Val)
8g.60853319C>ACA461105397CHD7c.6594C>A (p.Gly2198=)
c.1717-8910C>A (n.1717-8910C>A)
c.6684C>A (p.Gly2228=)
c.4671C>A (p.Gly1557=)
c.4221C>A (p.Gly1407=)
c.3429C>A (p.Gly1143=)
8g.60853319C>GCA461105398CHD7c.6594C>G (p.Gly2198=)
c.1717-8910C>G (n.1717-8910C>G)
c.6684C>G (p.Gly2228=)
c.4671C>G (p.Gly1557=)
c.4221C>G (p.Gly1407=)
c.3429C>G (p.Gly1143=)
8g.60853319C>TCA461105401CHD7c.6594C>T (p.Gly2198=)
c.1717-8910C>T (n.1717-8910C>T)
c.6684C>T (p.Gly2228=)
c.4671C>T (p.Gly1557=)
c.4221C>T (p.Gly1407=)
c.3429C>T (p.Gly1143=)
 ClinVar
8g.60853320A>CCA371325859CHD7c.6595A>C (p.Ser2199Arg)
c.1717-8909A>C (n.1717-8909A>C)
c.6685A>C (p.Ser2229Arg)
c.4672A>C (p.Ser1558Arg)
c.4222A>C (p.Ser1408Arg)
c.3430A>C (p.Ser1144Arg)
8g.60853320A>GCA371325860CHD7c.6595A>G (p.Ser2199Gly)
c.1717-8909A>G (n.1717-8909A>G)
c.6685A>G (p.Ser2229Gly)
c.4672A>G (p.Ser1558Gly)
c.4222A>G (p.Ser1408Gly)
c.3430A>G (p.Ser1144Gly)
8g.60853320A>TCA371325862CHD7c.6595A>T (p.Ser2199Cys)
c.1717-8909A>T (n.1717-8909A>T)
c.6685A>T (p.Ser2229Cys)
c.4672A>T (p.Ser1558Cys)
c.4222A>T (p.Ser1408Cys)
c.3430A>T (p.Ser1144Cys)
8g.60853321G>ACA16618678CHD7c.6596G>A (p.Ser2199Asn)
c.1717-8908G>A (n.1717-8908G>A)
c.6686G>A (p.Ser2229Asn)
c.4673G>A (p.Ser1558Asn)
c.4223G>A (p.Ser1408Asn)
c.3431G>A (p.Ser1144Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853321G>CCA371325864CHD7c.6596G>C (p.Ser2199Thr)
c.1717-8908G>C (n.1717-8908G>C)
c.6686G>C (p.Ser2229Thr)
c.4673G>C (p.Ser1558Thr)
c.4223G>C (p.Ser1408Thr)
c.3431G>C (p.Ser1144Thr)
8g.60853321G=CA1788104599CHD7c.6596G= (p.Ser2199=)
c.1717-8908G= (n.1717-8908G=)
c.6686G= (p.Ser2229=)
c.4673G= (p.Ser1558=)
c.4223G= (p.Ser1408=)
c.3431G= (p.Ser1144=)
8g.60853321G>TCA371325866CHD7c.6596G>T (p.Ser2199Ile)
c.1717-8908G>T (n.1717-8908G>T)
c.6686G>T (p.Ser2229Ile)
c.4673G>T (p.Ser1558Ile)
c.4223G>T (p.Ser1408Ile)
c.3431G>T (p.Ser1144Ile)
8g.60853322C>ACA371325869CHD7c.6597C>A (p.Ser2199Arg)
c.1717-8907C>A (n.1717-8907C>A)
c.6687C>A (p.Ser2229Arg)
c.4674C>A (p.Ser1558Arg)
c.4224C>A (p.Ser1408Arg)
c.3432C>A (p.Ser1144Arg)
8g.60853322C=CA1788104604CHD7c.6597C= (p.Ser2199=)
c.1717-8907C= (n.1717-8907C=)
c.6687C= (p.Ser2229=)
c.4674C= (p.Ser1558=)
c.4224C= (p.Ser1408=)
c.3432C= (p.Ser1144=)
8g.60853322C>GCA371325868CHD7c.6597C>G (p.Ser2199Arg)
c.1717-8907C>G (n.1717-8907C>G)
c.6687C>G (p.Ser2229Arg)
c.4674C>G (p.Ser1558Arg)
c.4224C>G (p.Ser1408Arg)
c.3432C>G (p.Ser1144Arg)
8g.60853322C>TCA4760614CHD7c.6597C>T (p.Ser2199=)
c.1717-8907C>T (n.1717-8907C>T)
c.6687C>T (p.Ser2229=)
c.4674C>T (p.Ser1558=)
c.4224C>T (p.Ser1408=)
c.3432C>T (p.Ser1144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853322_60853323insTCA2568225796CHD7c.6597_6598insT (p.Gly2200TrpfsTer9)
c.1717-8907_1717-8906insT (n.1717-8907_1717-8906insT)
c.6687_6688insT (p.Gly2230TrpfsTer9)
c.4674_4675insT (p.Gly1559TrpfsTer9)
c.4224_4225insT (p.Gly1409TrpfsTer9)
c.3432_3433insT (p.Gly1145TrpfsTer9)
8g.60853323G>ACA177354170CHD7c.6598G>A (p.Gly2200Arg)
c.1717-8906G>A (n.1717-8906G>A)
c.6688G>A (p.Gly2230Arg)
c.4675G>A (p.Gly1559Arg)
c.4225G>A (p.Gly1409Arg)
c.3433G>A (p.Gly1145Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853323G>CCA371325871CHD7c.6598G>C (p.Gly2200Arg)
c.1717-8906G>C (n.1717-8906G>C)
c.6688G>C (p.Gly2230Arg)
c.4675G>C (p.Gly1559Arg)
c.4225G>C (p.Gly1409Arg)
c.3433G>C (p.Gly1145Arg)
 ClinVar dbSNP
8g.60853323G=CA1788104614CHD7c.6598G= (p.Gly2200=)
c.1717-8906G= (n.1717-8906G=)
c.6688G= (p.Gly2230=)
c.4675G= (p.Gly1559=)
c.4225G= (p.Gly1409=)
c.3433G= (p.Gly1145=)
8g.60853323G>TCA4760615CHD7c.6598G>T (p.Gly2200Trp)
c.1717-8906G>T (n.1717-8906G>T)
c.6688G>T (p.Gly2230Trp)
c.4675G>T (p.Gly1559Trp)
c.4225G>T (p.Gly1409Trp)
c.3433G>T (p.Gly1145Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853324G>ACA371325873CHD7c.6599G>A (p.Gly2200Glu)
c.1717-8905G>A (n.1717-8905G>A)
c.6689G>A (p.Gly2230Glu)
c.4676G>A (p.Gly1559Glu)
c.4226G>A (p.Gly1409Glu)
c.3434G>A (p.Gly1145Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.60853324G>CCA371325874CHD7c.6599G>C (p.Gly2200Ala)
c.1717-8905G>C (n.1717-8905G>C)
c.6689G>C (p.Gly2230Ala)
c.4676G>C (p.Gly1559Ala)
c.4226G>C (p.Gly1409Ala)
c.3434G>C (p.Gly1145Ala)
8g.60853324G=CA1788104620CHD7c.6599G= (p.Gly2200=)
c.1717-8905G= (n.1717-8905G=)
c.6689G= (p.Gly2230=)
c.4676G= (p.Gly1559=)
c.4226G= (p.Gly1409=)
c.3434G= (p.Gly1145=)
8g.60853324G>TCA371325876CHD7c.6599G>T (p.Gly2200Val)
c.1717-8905G>T (n.1717-8905G>T)
c.6689G>T (p.Gly2230Val)
c.4676G>T (p.Gly1559Val)
c.4226G>T (p.Gly1409Val)
c.3434G>T (p.Gly1145Val)
8g.60853325G>ACA461105414CHD7c.6600G>A (p.Gly2200=)
c.1717-8904G>A (n.1717-8904G>A)
c.6690G>A (p.Gly2230=)
c.4677G>A (p.Gly1559=)
c.4227G>A (p.Gly1409=)
c.3435G>A (p.Gly1145=)
 ClinVar dbSNP
8g.60853325G>CCA461105416CHD7c.6600G>C (p.Gly2200=)
c.1717-8904G>C (n.1717-8904G>C)
c.6690G>C (p.Gly2230=)
c.4677G>C (p.Gly1559=)
c.4227G>C (p.Gly1409=)
c.3435G>C (p.Gly1145=)
8g.60853325G>TCA461105417CHD7c.6600G>T (p.Gly2200=)
c.1717-8904G>T (n.1717-8904G>T)
c.6690G>T (p.Gly2230=)
c.4677G>T (p.Gly1559=)
c.4227G>T (p.Gly1409=)
c.3435G>T (p.Gly1145=)
 gnomAD v4
8g.60853326A>CCA371325878CHD7c.6601A>C (p.Lys2201Gln)
c.1717-8903A>C (n.1717-8903A>C)
c.6691A>C (p.Lys2231Gln)
c.4678A>C (p.Lys1560Gln)
c.4228A>C (p.Lys1410Gln)
c.3436A>C (p.Lys1146Gln)
8g.60853326A>GCA371325880CHD7c.6601A>G (p.Lys2201Glu)
c.1717-8903A>G (n.1717-8903A>G)
c.6691A>G (p.Lys2231Glu)
c.4678A>G (p.Lys1560Glu)
c.4228A>G (p.Lys1410Glu)
c.3436A>G (p.Lys1146Glu)
8g.60853326A>TCA371325881CHD7c.6601A>T (p.Lys2201Ter)
c.1717-8903A>T (n.1717-8903A>T)
c.6691A>T (p.Lys2231Ter)
c.4678A>T (p.Lys1560Ter)
c.4228A>T (p.Lys1410Ter)
c.3436A>T (p.Lys1146Ter)
8g.60853327dupCA2695209431CHD7c.6602dup (p.Glu2202GlyfsTer7)
c.1717-8902dup (n.1717-8902dup)
c.6692dup (p.Glu2232GlyfsTer7)
c.4679dup (p.Glu1561GlyfsTer7)
c.4229dup (p.Glu1411GlyfsTer7)
c.3437dup (p.Glu1147GlyfsTer7)
8g.60853327A>CCA371325883CHD7c.6602A>C (p.Lys2201Thr)
c.1717-8902A>C (n.1717-8902A>C)
c.6692A>C (p.Lys2231Thr)
c.4679A>C (p.Lys1560Thr)
c.4229A>C (p.Lys1410Thr)
c.3437A>C (p.Lys1146Thr)
8g.60853327A>GCA371325885CHD7c.6602A>G (p.Lys2201Arg)
c.1717-8902A>G (n.1717-8902A>G)
c.6692A>G (p.Lys2231Arg)
c.4679A>G (p.Lys1560Arg)
c.4229A>G (p.Lys1410Arg)
c.3437A>G (p.Lys1146Arg)
8g.60853327A>TCA371325886CHD7c.6602A>T (p.Lys2201Met)
c.1717-8902A>T (n.1717-8902A>T)
c.6692A>T (p.Lys2231Met)
c.4679A>T (p.Lys1560Met)
c.4229A>T (p.Lys1410Met)
c.3437A>T (p.Lys1146Met)
8g.60853328G>ACA461105431CHD7c.6603G>A (p.Lys2201=)
c.1717-8901G>A (n.1717-8901G>A)
c.6693G>A (p.Lys2231=)
c.4680G>A (p.Lys1560=)
c.4230G>A (p.Lys1410=)
c.3438G>A (p.Lys1146=)
 ClinVar dbSNP gnomAD v4
8g.60853328G>CCA371325888CHD7c.6603G>C (p.Lys2201Asn)
c.1717-8901G>C (n.1717-8901G>C)
c.6693G>C (p.Lys2231Asn)
c.4680G>C (p.Lys1560Asn)
c.4230G>C (p.Lys1410Asn)
c.3438G>C (p.Lys1146Asn)
 ClinVar
8g.60853328G=CA1788104628CHD7c.6603G= (p.Lys2201=)
c.1717-8901G= (n.1717-8901G=)
c.6693G= (p.Lys2231=)
c.4680G= (p.Lys1560=)
c.4230G= (p.Lys1410=)
c.3438G= (p.Lys1146=)
8g.60853328G>TCA371325890CHD7c.6603G>T (p.Lys2201Asn)
c.1717-8901G>T (n.1717-8901G>T)
c.6693G>T (p.Lys2231Asn)
c.4680G>T (p.Lys1560Asn)
c.4230G>T (p.Lys1410Asn)
c.3438G>T (p.Lys1146Asn)
8g.60853329G>ACA371325891CHD7c.6604G>A (p.Glu2202Lys)
c.1717-8900G>A (n.1717-8900G>A)
c.6694G>A (p.Glu2232Lys)
c.4681G>A (p.Glu1561Lys)
c.4231G>A (p.Glu1411Lys)
c.3439G>A (p.Glu1147Lys)
8g.60853329G>CCA371325892CHD7c.6604G>C (p.Glu2202Gln)
c.1717-8900G>C (n.1717-8900G>C)
c.6694G>C (p.Glu2232Gln)
c.4681G>C (p.Glu1561Gln)
c.4231G>C (p.Glu1411Gln)
c.3439G>C (p.Glu1147Gln)
 gnomAD v4 COSMIC
8g.60853329G>TCA371325894CHD7c.6604G>T (p.Glu2202Ter)
c.1717-8900G>T (n.1717-8900G>T)
c.6694G>T (p.Glu2232Ter)
c.4681G>T (p.Glu1561Ter)
c.4231G>T (p.Glu1411Ter)
c.3439G>T (p.Glu1147Ter)
8g.60853330A>CCA371325895CHD7c.6605A>C (p.Glu2202Ala)
c.1717-8899A>C (n.1717-8899A>C)
c.6695A>C (p.Glu2232Ala)
c.4682A>C (p.Glu1561Ala)
c.4232A>C (p.Glu1411Ala)
c.3440A>C (p.Glu1147Ala)
8g.60853330A>GCA371325897CHD7c.6605A>G (p.Glu2202Gly)
c.1717-8899A>G (n.1717-8899A>G)
c.6695A>G (p.Glu2232Gly)
c.4682A>G (p.Glu1561Gly)
c.4232A>G (p.Glu1411Gly)
c.3440A>G (p.Glu1147Gly)
8g.60853330A>TCA371325899CHD7c.6605A>T (p.Glu2202Val)
c.1717-8899A>T (n.1717-8899A>T)
c.6695A>T (p.Glu2232Val)
c.4682A>T (p.Glu1561Val)
c.4232A>T (p.Glu1411Val)
c.3440A>T (p.Glu1147Val)
8g.60853331G>ACA461105440CHD7c.6606G>A (p.Glu2202=)
c.1717-8898G>A (n.1717-8898G>A)
c.6696G>A (p.Glu2232=)
c.4683G>A (p.Glu1561=)
c.4233G>A (p.Glu1411=)
c.3441G>A (p.Glu1147=)
 gnomAD v4
8g.60853331G>CCA371325900CHD7c.6606G>C (p.Glu2202Asp)
c.1717-8898G>C (n.1717-8898G>C)
c.6696G>C (p.Glu2232Asp)
c.4683G>C (p.Glu1561Asp)
c.4233G>C (p.Glu1411Asp)
c.3441G>C (p.Glu1147Asp)
8g.60853331G>TCA371325901CHD7c.6606G>T (p.Glu2202Asp)
c.1717-8898G>T (n.1717-8898G>T)
c.6696G>T (p.Glu2232Asp)
c.4683G>T (p.Glu1561Asp)
c.4233G>T (p.Glu1411Asp)
c.3441G>T (p.Glu1147Asp)
8g.60853332A>CCA371325903CHD7c.6607A>C (p.Ser2203Arg)
c.1717-8897A>C (n.1717-8897A>C)
c.6697A>C (p.Ser2233Arg)
c.4684A>C (p.Ser1562Arg)
c.4234A>C (p.Ser1412Arg)
c.3442A>C (p.Ser1148Arg)
8g.60853332A>GCA371325905CHD7c.6607A>G (p.Ser2203Gly)
c.1717-8897A>G (n.1717-8897A>G)
c.6697A>G (p.Ser2233Gly)
c.4684A>G (p.Ser1562Gly)
c.4234A>G (p.Ser1412Gly)
c.3442A>G (p.Ser1148Gly)
8g.60853332A>TCA371325907CHD7c.6607A>T (p.Ser2203Cys)
c.1717-8897A>T (n.1717-8897A>T)
c.6697A>T (p.Ser2233Cys)
c.4684A>T (p.Ser1562Cys)
c.4234A>T (p.Ser1412Cys)
c.3442A>T (p.Ser1148Cys)
8g.60853333G>ACA4760616CHD7c.6608G>A (p.Ser2203Asn)
c.1717-8896G>A (n.1717-8896G>A)
c.6698G>A (p.Ser2233Asn)
c.4685G>A (p.Ser1562Asn)
c.4235G>A (p.Ser1412Asn)
c.3443G>A (p.Ser1148Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853333G>CCA371325910CHD7c.6608G>C (p.Ser2203Thr)
c.1717-8896G>C (n.1717-8896G>C)
c.6698G>C (p.Ser2233Thr)
c.4685G>C (p.Ser1562Thr)
c.4235G>C (p.Ser1412Thr)
c.3443G>C (p.Ser1148Thr)
8g.60853333G=CA1788104636CHD7c.6608G= (p.Ser2203=)
c.1717-8896G= (n.1717-8896G=)
c.6698G= (p.Ser2233=)
c.4685G= (p.Ser1562=)
c.4235G= (p.Ser1412=)
c.3443G= (p.Ser1148=)
8g.60853333G>TCA371325908CHD7c.6608G>T (p.Ser2203Ile)
c.1717-8896G>T (n.1717-8896G>T)
c.6698G>T (p.Ser2233Ile)
c.4685G>T (p.Ser1562Ile)
c.4235G>T (p.Ser1412Ile)
c.3443G>T (p.Ser1148Ile)
 dbSNP gnomAD v2
8g.60853334delCA2695209432CHD7c.6609del (p.Ser2203ArgfsTer12)
c.1717-8895del (n.1717-8895del)
c.6699del (p.Ser2233ArgfsTer12)
c.4686del (p.Ser1562ArgfsTer12)
c.4236del (p.Ser1412ArgfsTer12)
c.3444del (p.Ser1148ArgfsTer12)
8g.60853334C>ACA371325912CHD7c.6609C>A (p.Ser2203Arg)
c.1717-8895C>A (n.1717-8895C>A)
c.6699C>A (p.Ser2233Arg)
c.4686C>A (p.Ser1562Arg)
c.4236C>A (p.Ser1412Arg)
c.3444C>A (p.Ser1148Arg)
 gnomAD v4
8g.60853334C>GCA371325913CHD7c.6609C>G (p.Ser2203Arg)
c.1717-8895C>G (n.1717-8895C>G)
c.6699C>G (p.Ser2233Arg)
c.4686C>G (p.Ser1562Arg)
c.4236C>G (p.Ser1412Arg)
c.3444C>G (p.Ser1148Arg)
8g.60853334C>TCA461105452CHD7c.6609C>T (p.Ser2203=)
c.1717-8895C>T (n.1717-8895C>T)
c.6699C>T (p.Ser2233=)
c.4686C>T (p.Ser1562=)
c.4236C>T (p.Ser1412=)
c.3444C>T (p.Ser1148=)
8g.60853335A>CCA371325915CHD7c.6610A>C (p.Lys2204Gln)
c.1717-8894A>C (n.1717-8894A>C)
c.6700A>C (p.Lys2234Gln)
c.4687A>C (p.Lys1563Gln)
c.4237A>C (p.Lys1413Gln)
c.3445A>C (p.Lys1149Gln)
8g.60853335A>GCA371325917CHD7c.6610A>G (p.Lys2204Glu)
c.1717-8894A>G (n.1717-8894A>G)
c.6700A>G (p.Lys2234Glu)
c.4687A>G (p.Lys1563Glu)
c.4237A>G (p.Lys1413Glu)
c.3445A>G (p.Lys1149Glu)
8g.60853335A>TCA371325919CHD7c.6610A>T (p.Lys2204Ter)
c.1717-8894A>T (n.1717-8894A>T)
c.6700A>T (p.Lys2234Ter)
c.4687A>T (p.Lys1563Ter)
c.4237A>T (p.Lys1413Ter)
c.3445A>T (p.Lys1149Ter)
8g.60853336A=CA1788104645CHD7c.6611A= (p.Lys2204=)
c.1717-8893A= (n.1717-8893A=)
c.6701A= (p.Lys2234=)
c.4688A= (p.Lys1563=)
c.4238A= (p.Lys1413=)
c.3446A= (p.Lys1149=)
8g.60853336A>CCA371325920CHD7c.6611A>C (p.Lys2204Thr)
c.1717-8893A>C (n.1717-8893A>C)
c.6701A>C (p.Lys2234Thr)
c.4688A>C (p.Lys1563Thr)
c.4238A>C (p.Lys1413Thr)
c.3446A>C (p.Lys1149Thr)
8g.60853336A>GCA177354174CHD7c.6611A>G (p.Lys2204Arg)
c.1717-8893A>G (n.1717-8893A>G)
c.6701A>G (p.Lys2234Arg)
c.4688A>G (p.Lys1563Arg)
c.4238A>G (p.Lys1413Arg)
c.3446A>G (p.Lys1149Arg)
 dbSNP gnomAD v4
8g.60853336A>TCA371325922CHD7c.6611A>T (p.Lys2204Met)
c.1717-8893A>T (n.1717-8893A>T)
c.6701A>T (p.Lys2234Met)
c.4688A>T (p.Lys1563Met)
c.4238A>T (p.Lys1413Met)
c.3446A>T (p.Lys1149Met)
8g.60853336_60853337insAGTTTTTATCA582403472CHD7c.6611_6612insAGTTTTTAT (p.Lys2204_Gln2205insValPheMet)
c.1717-8893_1717-8892insAGTTTTTAT (n.1717-8893_1717-8892insAGTTTTTAT)
c.6701_6702insAGTTTTTAT (p.Lys2234_Gln2235insValPheMet)
c.4688_4689insAGTTTTTAT (p.Lys1563_Gln1564insValPheMet)
c.4238_4239insAGTTTTTAT (p.Lys1413_Gln1414insValPheMet)
c.3446_3447insAGTTTTTAT (p.Lys1149_Gln1150insValPheMet)
 dbSNP gnomAD v2
8g.60853337G>ACA461105458CHD7c.6612G>A (p.Lys2204=)
c.1717-8892G>A (n.1717-8892G>A)
c.6702G>A (p.Lys2234=)
c.4689G>A (p.Lys1563=)
c.4239G>A (p.Lys1413=)
c.3447G>A (p.Lys1149=)
 dbSNP gnomAD v2 gnomAD v4
8g.60853337G>CCA371325924CHD7c.6612G>C (p.Lys2204Asn)
c.1717-8892G>C (n.1717-8892G>C)
c.6702G>C (p.Lys2234Asn)
c.4689G>C (p.Lys1563Asn)
c.4239G>C (p.Lys1413Asn)
c.3447G>C (p.Lys1149Asn)
8g.60853337G=CA1788104649CHD7c.6612G= (p.Lys2204=)
c.1717-8892G= (n.1717-8892G=)
c.6702G= (p.Lys2234=)
c.4689G= (p.Lys1563=)
c.4239G= (p.Lys1413=)
c.3447G= (p.Lys1149=)
8g.60853337G>TCA371325925CHD7c.6612G>T (p.Lys2204Asn)
c.1717-8892G>T (n.1717-8892G>T)
c.6702G>T (p.Lys2234Asn)
c.4689G>T (p.Lys1563Asn)
c.4239G>T (p.Lys1413Asn)
c.3447G>T (p.Lys1149Asn)
 dbSNP gnomAD v2
8g.60853338C>ACA371325927CHD7c.6613C>A (p.Gln2205Lys)
c.1717-8891C>A (n.1717-8891C>A)
c.6703C>A (p.Gln2235Lys)
c.4690C>A (p.Gln1564Lys)
c.4240C>A (p.Gln1414Lys)
c.3448C>A (p.Gln1150Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60853338C=CA1788104656CHD7c.6613C= (p.Gln2205=)
c.1717-8891C= (n.1717-8891C=)
c.6703C= (p.Gln2235=)
c.4690C= (p.Gln1564=)
c.4240C= (p.Gln1414=)
c.3448C= (p.Gln1150=)
8g.60853338C>GCA371325928CHD7c.6613C>G (p.Gln2205Glu)
c.1717-8891C>G (n.1717-8891C>G)
c.6703C>G (p.Gln2235Glu)
c.4690C>G (p.Gln1564Glu)
c.4240C>G (p.Gln1414Glu)
c.3448C>G (p.Gln1150Glu)
8g.60853338C>TCA10588460CHD7c.6613C>T (p.Gln2205Ter)
c.1717-8891C>T (n.1717-8891C>T)
c.6703C>T (p.Gln2235Ter)
c.4690C>T (p.Gln1564Ter)
c.4240C>T (p.Gln1414Ter)
c.3448C>T (p.Gln1150Ter)
 ClinVar dbSNP
8g.60853339A>CCA371325932CHD7c.6614A>C (p.Gln2205Pro)
c.1717-8890A>C (n.1717-8890A>C)
c.6704A>C (p.Gln2235Pro)
c.4691A>C (p.Gln1564Pro)
c.4241A>C (p.Gln1414Pro)
c.3449A>C (p.Gln1150Pro)
8g.60853339A>GCA371325933CHD7c.6614A>G (p.Gln2205Arg)
c.1717-8890A>G (n.1717-8890A>G)
c.6704A>G (p.Gln2235Arg)
c.4691A>G (p.Gln1564Arg)
c.4241A>G (p.Gln1414Arg)
c.3449A>G (p.Gln1150Arg)
8g.60853339A>TCA371325930CHD7c.6614A>T (p.Gln2205Leu)
c.1717-8890A>T (n.1717-8890A>T)
c.6704A>T (p.Gln2235Leu)
c.4691A>T (p.Gln1564Leu)
c.4241A>T (p.Gln1414Leu)
c.3449A>T (p.Gln1150Leu)
8g.60853340G>ACA4760617CHD7c.6615G>A (p.Gln2205=)
c.1717-8889G>A (n.1717-8889G>A)
c.6705G>A (p.Gln2235=)
c.4692G>A (p.Gln1564=)
c.4242G>A (p.Gln1414=)
c.3450G>A (p.Gln1150=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853340G>CCA177354178CHD7c.6615G>C (p.Gln2205His)
c.1717-8889G>C (n.1717-8889G>C)
c.6705G>C (p.Gln2235His)
c.4692G>C (p.Gln1564His)
c.4242G>C (p.Gln1414His)
c.3450G>C (p.Gln1150His)
 ClinVar dbSNP
8g.60853340G=CA1788104666CHD7c.6615G= (p.Gln2205=)
c.1717-8889G= (n.1717-8889G=)
c.6705G= (p.Gln2235=)
c.4692G= (p.Gln1564=)
c.4242G= (p.Gln1414=)
c.3450G= (p.Gln1150=)
8g.60853340G>TCA371325936CHD7c.6615G>T (p.Gln2205His)
c.1717-8889G>T (n.1717-8889G>T)
c.6705G>T (p.Gln2235His)
c.4692G>T (p.Gln1564His)
c.4242G>T (p.Gln1414His)
c.3450G>T (p.Gln1150His)
8g.60853341G>ACA4760618CHD7c.6616G>A (p.Glu2206Lys)
c.1717-8888G>A (n.1717-8888G>A)
c.6706G>A (p.Glu2236Lys)
c.4693G>A (p.Glu1565Lys)
c.4243G>A (p.Glu1415Lys)
c.3451G>A (p.Glu1151Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853341G>CCA371325938CHD7c.6616G>C (p.Glu2206Gln)
c.1717-8888G>C (n.1717-8888G>C)
c.6706G>C (p.Glu2236Gln)
c.4693G>C (p.Glu1565Gln)
c.4243G>C (p.Glu1415Gln)
c.3451G>C (p.Glu1151Gln)
8g.60853341G=CA1788104697CHD7c.6616G= (p.Glu2206=)
c.1717-8888G= (n.1717-8888G=)
c.6706G= (p.Glu2236=)
c.4693G= (p.Glu1565=)
c.4243G= (p.Glu1415=)
c.3451G= (p.Glu1151=)
8g.60853341G>TCA371325940CHD7c.6616G>T (p.Glu2206Ter)
c.1717-8888G>T (n.1717-8888G>T)
c.6706G>T (p.Glu2236Ter)
c.4693G>T (p.Glu1565Ter)
c.4243G>T (p.Glu1415Ter)
c.3451G>T (p.Glu1151Ter)
8g.60853342A>CCA371325941CHD7c.6617A>C (p.Glu2206Ala)
c.1717-8887A>C (n.1717-8887A>C)
c.6707A>C (p.Glu2236Ala)
c.4694A>C (p.Glu1565Ala)
c.4244A>C (p.Glu1415Ala)
c.3452A>C (p.Glu1151Ala)
8g.60853342A>GCA371325943CHD7c.6617A>G (p.Glu2206Gly)
c.1717-8887A>G (n.1717-8887A>G)
c.6707A>G (p.Glu2236Gly)
c.4694A>G (p.Glu1565Gly)
c.4244A>G (p.Glu1415Gly)
c.3452A>G (p.Glu1151Gly)
8g.60853342A>TCA371325945CHD7c.6617A>T (p.Glu2206Val)
c.1717-8887A>T (n.1717-8887A>T)
c.6707A>T (p.Glu2236Val)
c.4694A>T (p.Glu1565Val)
c.4244A>T (p.Glu1415Val)
c.3452A>T (p.Glu1151Val)
8g.60853343A=CA1788104706CHD7c.6618A= (p.Glu2206=)
c.1717-8886A= (n.1717-8886A=)
c.6708A= (p.Glu2236=)
c.4695A= (p.Glu1565=)
c.4245A= (p.Glu1415=)
c.3453A= (p.Glu1151=)
8g.60853343A>CCA4760619CHD7c.6618A>C (p.Glu2206Asp)
c.1717-8886A>C (n.1717-8886A>C)
c.6708A>C (p.Glu2236Asp)
c.4695A>C (p.Glu1565Asp)
c.4245A>C (p.Glu1415Asp)
c.3453A>C (p.Glu1151Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853343A>GCA461105471CHD7c.6618A>G (p.Glu2206=)
c.1717-8886A>G (n.1717-8886A>G)
c.6708A>G (p.Glu2236=)
c.4695A>G (p.Glu1565=)
c.4245A>G (p.Glu1415=)
c.3453A>G (p.Glu1151=)
 dbSNP gnomAD v3 gnomAD v4
8g.60853343A>TCA371325946CHD7c.6618A>T (p.Glu2206Asp)
c.1717-8886A>T (n.1717-8886A>T)
c.6708A>T (p.Glu2236Asp)
c.4695A>T (p.Glu1565Asp)
c.4245A>T (p.Glu1415Asp)
c.3453A>T (p.Glu1151Asp)
8g.60853344T>ACA371325949CHD7c.6619T>A (p.Cys2207Ser)
c.1717-8885T>A (n.1717-8885T>A)
c.6709T>A (p.Cys2237Ser)
c.4696T>A (p.Cys1566Ser)
c.4246T>A (p.Cys1416Ser)
c.3454T>A (p.Cys1152Ser)
8g.60853344T>CCA371325950CHD7c.6619T>C (p.Cys2207Arg)
c.1717-8885T>C (n.1717-8885T>C)
c.6709T>C (p.Cys2237Arg)
c.4696T>C (p.Cys1566Arg)
c.4246T>C (p.Cys1416Arg)
c.3454T>C (p.Cys1152Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60853344T>GCA371325952CHD7c.6619T>G (p.Cys2207Gly)
c.1717-8885T>G (n.1717-8885T>G)
c.6709T>G (p.Cys2237Gly)
c.4696T>G (p.Cys1566Gly)
c.4246T>G (p.Cys1416Gly)
c.3454T>G (p.Cys1152Gly)
8g.60853344T=CA1788104716CHD7c.6619T= (p.Cys2207=)
c.1717-8885T= (n.1717-8885T=)
c.6709T= (p.Cys2237=)
c.4696T= (p.Cys1566=)
c.4246T= (p.Cys1416=)
c.3454T= (p.Cys1152=)
8g.60853345G>ACA4760620CHD7c.6620G>A (p.Cys2207Tyr)
c.1717-8884G>A (n.1717-8884G>A)
c.6710G>A (p.Cys2237Tyr)
c.4697G>A (p.Cys1566Tyr)
c.4247G>A (p.Cys1416Tyr)
c.3455G>A (p.Cys1152Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853345G>CCA371325956CHD7c.6620G>C (p.Cys2207Ser)
c.1717-8884G>C (n.1717-8884G>C)
c.6710G>C (p.Cys2237Ser)
c.4697G>C (p.Cys1566Ser)
c.4247G>C (p.Cys1416Ser)
c.3455G>C (p.Cys1152Ser)
8g.60853345G=CA1788104782CHD7c.6620G= (p.Cys2207=)
c.1717-8884G= (n.1717-8884G=)
c.6710G= (p.Cys2237=)
c.4697G= (p.Cys1566=)
c.4247G= (p.Cys1416=)
c.3455G= (p.Cys1152=)
8g.60853345G>TCA371325955CHD7c.6620G>T (p.Cys2207Phe)
c.1717-8884G>T (n.1717-8884G>T)
c.6710G>T (p.Cys2237Phe)
c.4697G>T (p.Cys1566Phe)
c.4247G>T (p.Cys1416Phe)
c.3455G>T (p.Cys1152Phe)
8g.60853345dupCA2695209433CHD7c.6620dup (p.Cys2207TrpfsTer2)
c.1717-8884dup (n.1717-8884dup)
c.6710dup (p.Cys2237TrpfsTer2)
c.4697dup (p.Cys1566TrpfsTer2)
c.4247dup (p.Cys1416TrpfsTer2)
c.3455dup (p.Cys1152TrpfsTer2)
8g.60853346T>ACA371325958CHD7c.6621T>A (p.Cys2207Ter)
c.1717-8883T>A (n.1717-8883T>A)
c.6711T>A (p.Cys2237Ter)
c.4698T>A (p.Cys1566Ter)
c.4248T>A (p.Cys1416Ter)
c.3456T>A (p.Cys1152Ter)
8g.60853346T>CCA461105475CHD7c.6621T>C (p.Cys2207=)
c.1717-8883T>C (n.1717-8883T>C)
c.6711T>C (p.Cys2237=)
c.4698T>C (p.Cys1566=)
c.4248T>C (p.Cys1416=)
c.3456T>C (p.Cys1152=)
8g.60853346T>GCA371325959CHD7c.6621T>G (p.Cys2207Trp)
c.1717-8883T>G (n.1717-8883T>G)
c.6711T>G (p.Cys2237Trp)
c.4698T>G (p.Cys1566Trp)
c.4248T>G (p.Cys1416Trp)
c.3456T>G (p.Cys1152Trp)
8g.60853347G>ACA371325962CHD7c.6622G>A (p.Glu2208Lys)
c.1717-8882G>A (n.1717-8882G>A)
c.6712G>A (p.Glu2238Lys)
c.4699G>A (p.Glu1567Lys)
c.4249G>A (p.Glu1417Lys)
c.3457G>A (p.Glu1153Lys)
8g.60853347G>CCA371325963CHD7c.6622G>C (p.Glu2208Gln)
c.1717-8882G>C (n.1717-8882G>C)
c.6712G>C (p.Glu2238Gln)
c.4699G>C (p.Glu1567Gln)
c.4249G>C (p.Glu1417Gln)
c.3457G>C (p.Glu1153Gln)
8g.60853347G>TCA371325964CHD7c.6622G>T (p.Glu2208Ter)
c.1717-8882G>T (n.1717-8882G>T)
c.6712G>T (p.Glu2238Ter)
c.4699G>T (p.Glu1567Ter)
c.4249G>T (p.Glu1417Ter)
c.3457G>T (p.Glu1153Ter)
8g.60853348A>CCA371325966CHD7c.6623A>C (p.Glu2208Ala)
c.1717-8881A>C (n.1717-8881A>C)
c.6713A>C (p.Glu2238Ala)
c.4700A>C (p.Glu1567Ala)
c.4250A>C (p.Glu1417Ala)
c.3458A>C (p.Glu1153Ala)
8g.60853348A>GCA371325968CHD7c.6623A>G (p.Glu2208Gly)
c.1717-8881A>G (n.1717-8881A>G)
c.6713A>G (p.Glu2238Gly)
c.4700A>G (p.Glu1567Gly)
c.4250A>G (p.Glu1417Gly)
c.3458A>G (p.Glu1153Gly)
8g.60853348A>TCA371325969CHD7c.6623A>T (p.Glu2208Val)
c.1717-8881A>T (n.1717-8881A>T)
c.6713A>T (p.Glu2238Val)
c.4700A>T (p.Glu1567Val)
c.4250A>T (p.Glu1417Val)
c.3458A>T (p.Glu1153Val)
8g.60853349G>ACA4760621CHD7c.6624G>A (p.Glu2208=)
c.1717-8880G>A (n.1717-8880G>A)
c.6714G>A (p.Glu2238=)
c.4701G>A (p.Glu1567=)
c.4251G>A (p.Glu1417=)
c.3459G>A (p.Glu1153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853349G>CCA371325971CHD7c.6624G>C (p.Glu2208Asp)
c.1717-8880G>C (n.1717-8880G>C)
c.6714G>C (p.Glu2238Asp)
c.4701G>C (p.Glu1567Asp)
c.4251G>C (p.Glu1417Asp)
c.3459G>C (p.Glu1153Asp)
8g.60853349G=CA1788104785CHD7c.6624G= (p.Glu2208=)
c.1717-8880G= (n.1717-8880G=)
c.6714G= (p.Glu2238=)
c.4701G= (p.Glu1567=)
c.4251G= (p.Glu1417=)
c.3459G= (p.Glu1153=)
8g.60853349G>TCA371325972CHD7c.6624G>T (p.Glu2208Asp)
c.1717-8880G>T (n.1717-8880G>T)
c.6714G>T (p.Glu2238Asp)
c.4701G>T (p.Glu1567Asp)
c.4251G>T (p.Glu1417Asp)
c.3459G>T (p.Glu1153Asp)
8g.60853350G>ACA371325976CHD7c.6625G>A (p.Ala2209Thr)
c.1717-8879G>A (n.1717-8879G>A)
c.6715G>A (p.Ala2239Thr)
c.4702G>A (p.Ala1568Thr)
c.4252G>A (p.Ala1418Thr)
c.3460G>A (p.Ala1154Thr)
8g.60853350G>CCA371325978CHD7c.6625G>C (p.Ala2209Pro)
c.1717-8879G>C (n.1717-8879G>C)
c.6715G>C (p.Ala2239Pro)
c.4702G>C (p.Ala1568Pro)
c.4252G>C (p.Ala1418Pro)
c.3460G>C (p.Ala1154Pro)
8g.60853350G=CA1788104793CHD7c.6625G= (p.Ala2209=)
c.1717-8879G= (n.1717-8879G=)
c.6715G= (p.Ala2239=)
c.4702G= (p.Ala1568=)
c.4252G= (p.Ala1418=)
c.3460G= (p.Ala1154=)
8g.60853350G>TCA371325974CHD7c.6625G>T (p.Ala2209Ser)
c.1717-8879G>T (n.1717-8879G>T)
c.6715G>T (p.Ala2239Ser)
c.4702G>T (p.Ala1568Ser)
c.4252G>T (p.Ala1418Ser)
c.3460G>T (p.Ala1154Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853351C>ACA371325979CHD7c.6626C>A (p.Ala2209Glu)
c.1717-8878C>A (n.1717-8878C>A)
c.6716C>A (p.Ala2239Glu)
c.4703C>A (p.Ala1568Glu)
c.4253C>A (p.Ala1418Glu)
c.3461C>A (p.Ala1154Glu)
 gnomAD v4
8g.60853351C=CA1788104799CHD7c.6626C= (p.Ala2209=)
c.1717-8878C= (n.1717-8878C=)
c.6716C= (p.Ala2239=)
c.4703C= (p.Ala1568=)
c.4253C= (p.Ala1418=)
c.3461C= (p.Ala1154=)
8g.60853351C>GCA371325980CHD7c.6626C>G (p.Ala2209Gly)
c.1717-8878C>G (n.1717-8878C>G)
c.6716C>G (p.Ala2239Gly)
c.4703C>G (p.Ala1568Gly)
c.4253C>G (p.Ala1418Gly)
c.3461C>G (p.Ala1154Gly)
8g.60853351C>TCA371325981CHD7c.6626C>T (p.Ala2209Val)
c.1717-8878C>T (n.1717-8878C>T)
c.6716C>T (p.Ala2239Val)
c.4703C>T (p.Ala1568Val)
c.4253C>T (p.Ala1418Val)
c.3461C>T (p.Ala1154Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853351_60853352delinsCACA1788104800CHD7c.6626_6627delinsCA (p.Ala2209=)
c.1717-8878_1717-8877delinsCA (n.1717-8878_1717-8877delinsCA)
c.6716_6717delinsCA (p.Ala2239=)
c.4703_4704delinsCA (p.Ala1568=)
c.4253_4254delinsCA (p.Ala1418=)
c.3461_3462delinsCA (p.Ala1154=)
8g.60853352delCA1139660559CHD7c.6627del (p.Glu2210ArgfsTer5)
c.1717-8877del (n.1717-8877del)
c.6717del (p.Glu2240ArgfsTer5)
c.4704del (p.Glu1569ArgfsTer5)
c.4254del (p.Glu1419ArgfsTer5)
c.3462del (p.Glu1155ArgfsTer5)
 ClinVar dbSNP
8g.60853352A>CCA461105483CHD7c.6627A>C (p.Ala2209=)
c.1717-8877A>C (n.1717-8877A>C)
c.6717A>C (p.Ala2239=)
c.4704A>C (p.Ala1568=)
c.4254A>C (p.Ala1418=)
c.3462A>C (p.Ala1154=)
8g.60853352A>GCA461105484CHD7c.6627A>G (p.Ala2209=)
c.1717-8877A>G (n.1717-8877A>G)
c.6717A>G (p.Ala2239=)
c.4704A>G (p.Ala1568=)
c.4254A>G (p.Ala1418=)
c.3462A>G (p.Ala1154=)
8g.60853352A>TCA461105485CHD7c.6627A>T (p.Ala2209=)
c.1717-8877A>T (n.1717-8877A>T)
c.6717A>T (p.Ala2239=)
c.4704A>T (p.Ala1568=)
c.4254A>T (p.Ala1418=)
c.3462A>T (p.Ala1154=)
8g.60853353G>ACA371325982CHD7c.6628G>A (p.Glu2210Lys)
c.1717-8876G>A (n.1717-8876G>A)
c.6718G>A (p.Glu2240Lys)
c.4705G>A (p.Glu1569Lys)
c.4255G>A (p.Glu1419Lys)
c.3463G>A (p.Glu1155Lys)
8g.60853353G>CCA371325983CHD7c.6628G>C (p.Glu2210Gln)
c.1717-8876G>C (n.1717-8876G>C)
c.6718G>C (p.Glu2240Gln)
c.4705G>C (p.Glu1569Gln)
c.4255G>C (p.Glu1419Gln)
c.3463G>C (p.Glu1155Gln)
8g.60853353G>TCA371325984CHD7c.6628G>T (p.Glu2210Ter)
c.1717-8876G>T (n.1717-8876G>T)
c.6718G>T (p.Glu2240Ter)
c.4705G>T (p.Glu1569Ter)
c.4255G>T (p.Glu1419Ter)
c.3463G>T (p.Glu1155Ter)
8g.60853354delCA2695201475CHD7c.6629del (p.Glu2210GlyfsTer5)
c.1717-8875del (n.1717-8875del)
c.6719del (p.Glu2240GlyfsTer5)
c.4706del (p.Glu1569GlyfsTer5)
c.4256del (p.Glu1419GlyfsTer5)
c.3464del (p.Glu1155GlyfsTer5)
 ClinVar
8g.60853354A=CA1788104811CHD7c.6629A= (p.Glu2210=)
c.1717-8875A= (n.1717-8875A=)
c.6719A= (p.Glu2240=)
c.4706A= (p.Glu1569=)
c.4256A= (p.Glu1419=)
c.3464A= (p.Glu1155=)
8g.60853354A>CCA371325985CHD7c.6629A>C (p.Glu2210Ala)
c.1717-8875A>C (n.1717-8875A>C)
c.6719A>C (p.Glu2240Ala)
c.4706A>C (p.Glu1569Ala)
c.4256A>C (p.Glu1419Ala)
c.3464A>C (p.Glu1155Ala)
8g.60853354A>GCA177354186CHD7c.6629A>G (p.Glu2210Gly)
c.1717-8875A>G (n.1717-8875A>G)
c.6719A>G (p.Glu2240Gly)
c.4706A>G (p.Glu1569Gly)
c.4256A>G (p.Glu1419Gly)
c.3464A>G (p.Glu1155Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853354A>TCA371325986CHD7c.6629A>T (p.Glu2210Val)
c.1717-8875A>T (n.1717-8875A>T)
c.6719A>T (p.Glu2240Val)
c.4706A>T (p.Glu1569Val)
c.4256A>T (p.Glu1419Val)
c.3464A>T (p.Glu1155Val)
8g.60853355G>ACA461105494CHD7c.6630G>A (p.Glu2210=)
c.1717-8874G>A (n.1717-8874G>A)
c.6720G>A (p.Glu2240=)
c.4707G>A (p.Glu1569=)
c.4257G>A (p.Glu1419=)
c.3465G>A (p.Glu1155=)
 gnomAD v4 COSMIC
8g.60853355G>CCA371325987CHD7c.6630G>C (p.Glu2210Asp)
c.1717-8874G>C (n.1717-8874G>C)
c.6720G>C (p.Glu2240Asp)
c.4707G>C (p.Glu1569Asp)
c.4257G>C (p.Glu1419Asp)
c.3465G>C (p.Glu1155Asp)
8g.60853355G>TCA371325988CHD7c.6630G>T (p.Glu2210Asp)
c.1717-8874G>T (n.1717-8874G>T)
c.6720G>T (p.Glu2240Asp)
c.4707G>T (p.Glu1569Asp)
c.4257G>T (p.Glu1419Asp)
c.3465G>T (p.Glu1155Asp)
 COSMIC
8g.60853356G>ACA4760623CHD7c.6631G>A (p.Ala2211Thr)
c.1717-8873G>A (n.1717-8873G>A)
c.6721G>A (p.Ala2241Thr)
c.4708G>A (p.Ala1570Thr)
c.4258G>A (p.Ala1420Thr)
c.3466G>A (p.Ala1156Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853356G>CCA371325989CHD7c.6631G>C (p.Ala2211Pro)
c.1717-8873G>C (n.1717-8873G>C)
c.6721G>C (p.Ala2241Pro)
c.4708G>C (p.Ala1570Pro)
c.4258G>C (p.Ala1420Pro)
c.3466G>C (p.Ala1156Pro)
 gnomAD v4
8g.60853356G=CA1788104846CHD7c.6631G= (p.Ala2211=)
c.1717-8873G= (n.1717-8873G=)
c.6721G= (p.Ala2241=)
c.4708G= (p.Ala1570=)
c.4258G= (p.Ala1420=)
c.3466G= (p.Ala1156=)
8g.60853356G>TCA4760622CHD7c.6631G>T (p.Ala2211Ser)
c.1717-8873G>T (n.1717-8873G>T)
c.6721G>T (p.Ala2241Ser)
c.4708G>T (p.Ala1570Ser)
c.4258G>T (p.Ala1420Ser)
c.3466G>T (p.Ala1156Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853357C>ACA371325992CHD7c.6632C>A (p.Ala2211Asp)
c.1717-8872C>A (n.1717-8872C>A)
c.6722C>A (p.Ala2241Asp)
c.4709C>A (p.Ala1570Asp)
c.4259C>A (p.Ala1420Asp)
c.3467C>A (p.Ala1156Asp)
 ClinVar dbSNP gnomAD v4
8g.60853357C=CA1788104867CHD7c.6632C= (p.Ala2211=)
c.1717-8872C= (n.1717-8872C=)
c.6722C= (p.Ala2241=)
c.4709C= (p.Ala1570=)
c.4259C= (p.Ala1420=)
c.3467C= (p.Ala1156=)
8g.60853357C>GCA371325991CHD7c.6632C>G (p.Ala2211Gly)
c.1717-8872C>G (n.1717-8872C>G)
c.6722C>G (p.Ala2241Gly)
c.4709C>G (p.Ala1570Gly)
c.4259C>G (p.Ala1420Gly)
c.3467C>G (p.Ala1156Gly)
8g.60853357C>TCA371325990CHD7c.6632C>T (p.Ala2211Val)
c.1717-8872C>T (n.1717-8872C>T)
c.6722C>T (p.Ala2241Val)
c.4709C>T (p.Ala1570Val)
c.4259C>T (p.Ala1420Val)
c.3467C>T (p.Ala1156Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60853358C>ACA461105501CHD7c.6633C>A (p.Ala2211=)
c.1717-8871C>A (n.1717-8871C>A)
c.6723C>A (p.Ala2241=)
c.4710C>A (p.Ala1570=)
c.4260C>A (p.Ala1420=)
c.3468C>A (p.Ala1156=)
8g.60853358C=CA1788104871CHD7c.6633C= (p.Ala2211=)
c.1717-8871C= (n.1717-8871C=)
c.6723C= (p.Ala2241=)
c.4710C= (p.Ala1570=)
c.4260C= (p.Ala1420=)
c.3468C= (p.Ala1156=)
8g.60853358C>GCA461105502CHD7c.6633C>G (p.Ala2211=)
c.1717-8871C>G (n.1717-8871C>G)
c.6723C>G (p.Ala2241=)
c.4710C>G (p.Ala1570=)
c.4260C>G (p.Ala1420=)
c.3468C>G (p.Ala1156=)
8g.60853358C>TCA461105503CHD7c.6633C>T (p.Ala2211=)
c.1717-8871C>T (n.1717-8871C>T)
c.6723C>T (p.Ala2241=)
c.4710C>T (p.Ala1570=)
c.4260C>T (p.Ala1420=)
c.3468C>T (p.Ala1156=)
 dbSNP
8g.60853359A>CCA371325993CHD7c.6634A>C (p.Ser2212Arg)
c.1717-8870A>C (n.1717-8870A>C)
c.6724A>C (p.Ser2242Arg)
c.4711A>C (p.Ser1571Arg)
c.4261A>C (p.Ser1421Arg)
c.3469A>C (p.Ser1157Arg)
8g.60853359A>GCA371325994CHD7c.6634A>G (p.Ser2212Gly)
c.1717-8870A>G (n.1717-8870A>G)
c.6724A>G (p.Ser2242Gly)
c.4711A>G (p.Ser1571Gly)
c.4261A>G (p.Ser1421Gly)
c.3469A>G (p.Ser1157Gly)
8g.60853359A>TCA371325995CHD7c.6634A>T (p.Ser2212Cys)
c.1717-8870A>T (n.1717-8870A>T)
c.6724A>T (p.Ser2242Cys)
c.4711A>T (p.Ser1571Cys)
c.4261A>T (p.Ser1421Cys)
c.3469A>T (p.Ser1157Cys)
8g.60853360G>ACA371325996CHD7c.6635G>A (p.Ser2212Asn)
c.1717-8869G>A (n.1717-8869G>A)
c.6725G>A (p.Ser2242Asn)
c.4712G>A (p.Ser1571Asn)
c.4262G>A (p.Ser1421Asn)
c.3470G>A (p.Ser1157Asn)
8g.60853360G>CCA371325997CHD7c.6635G>C (p.Ser2212Thr)
c.1717-8869G>C (n.1717-8869G>C)
c.6725G>C (p.Ser2242Thr)
c.4712G>C (p.Ser1571Thr)
c.4262G>C (p.Ser1421Thr)
c.3470G>C (p.Ser1157Thr)
 gnomAD v4
8g.60853360G>TCA371325998CHD7c.6635G>T (p.Ser2212Ile)
c.1717-8869G>T (n.1717-8869G>T)
c.6725G>T (p.Ser2242Ile)
c.4712G>T (p.Ser1571Ile)
c.4262G>T (p.Ser1421Ile)
c.3470G>T (p.Ser1157Ile)
8g.60853361C>ACA371325999CHD7c.6636C>A (p.Ser2212Arg)
c.1717-8868C>A (n.1717-8868C>A)
c.6726C>A (p.Ser2242Arg)
c.4713C>A (p.Ser1571Arg)
c.4263C>A (p.Ser1421Arg)
c.3471C>A (p.Ser1157Arg)
8g.60853361C>GCA371326000CHD7c.6636C>G (p.Ser2212Arg)
c.1717-8868C>G (n.1717-8868C>G)
c.6726C>G (p.Ser2242Arg)
c.4713C>G (p.Ser1571Arg)
c.4263C>G (p.Ser1421Arg)
c.3471C>G (p.Ser1157Arg)
8g.60853361C>TCA461105511CHD7c.6636C>T (p.Ser2212=)
c.1717-8868C>T (n.1717-8868C>T)
c.6726C>T (p.Ser2242=)
c.4713C>T (p.Ser1571=)
c.4263C>T (p.Ser1421=)
c.3471C>T (p.Ser1157=)
8g.60853362T>ACA371326001CHD7c.6637T>A (p.Ser2213Thr)
c.1717-8867T>A (n.1717-8867T>A)
c.6727T>A (p.Ser2243Thr)
c.4714T>A (p.Ser1572Thr)
c.4264T>A (p.Ser1422Thr)
c.3472T>A (p.Ser1158Thr)
8g.60853362T>CCA4760624CHD7c.6637T>C (p.Ser2213Pro)
c.1717-8867T>C (n.1717-8867T>C)
c.6727T>C (p.Ser2243Pro)
c.4714T>C (p.Ser1572Pro)
c.4264T>C (p.Ser1422Pro)
c.3472T>C (p.Ser1158Pro)
 dbSNP ExAC gnomAD v2
8g.60853362T>GCA371326002CHD7c.6637T>G (p.Ser2213Ala)
c.1717-8867T>G (n.1717-8867T>G)
c.6727T>G (p.Ser2243Ala)
c.4714T>G (p.Ser1572Ala)
c.4264T>G (p.Ser1422Ala)
c.3472T>G (p.Ser1158Ala)
8g.60853362T=CA1788104875CHD7c.6637T= (p.Ser2213=)
c.1717-8867T= (n.1717-8867T=)
c.6727T= (p.Ser2243=)
c.4714T= (p.Ser1572=)
c.4264T= (p.Ser1422=)
c.3472T= (p.Ser1158=)
8g.60853363C>ACA371326003CHD7c.6638C>A (p.Ser2213Tyr)
c.1717-8866C>A (n.1717-8866C>A)
c.6728C>A (p.Ser2243Tyr)
c.4715C>A (p.Ser1572Tyr)
c.4265C>A (p.Ser1422Tyr)
c.3473C>A (p.Ser1158Tyr)
8g.60853363C>GCA371326004CHD7c.6638C>G (p.Ser2213Cys)
c.1717-8866C>G (n.1717-8866C>G)
c.6728C>G (p.Ser2243Cys)
c.4715C>G (p.Ser1572Cys)
c.4265C>G (p.Ser1422Cys)
c.3473C>G (p.Ser1158Cys)
 ClinVar gnomAD v4
8g.60853363C>TCA371326005CHD7c.6638C>T (p.Ser2213Phe)
c.1717-8866C>T (n.1717-8866C>T)
c.6728C>T (p.Ser2243Phe)
c.4715C>T (p.Ser1572Phe)
c.4265C>T (p.Ser1422Phe)
c.3473C>T (p.Ser1158Phe)
8g.60853364T>ACA461105519CHD7c.6639T>A (p.Ser2213=)
c.1717-8865T>A (n.1717-8865T>A)
c.6729T>A (p.Ser2243=)
c.4716T>A (p.Ser1572=)
c.4266T>A (p.Ser1422=)
c.3474T>A (p.Ser1158=)
8g.60853364T>CCA461105521CHD7c.6639T>C (p.Ser2213=)
c.1717-8865T>C (n.1717-8865T>C)
c.6729T>C (p.Ser2243=)
c.4716T>C (p.Ser1572=)
c.4266T>C (p.Ser1422=)
c.3474T>C (p.Ser1158=)
 ClinVar dbSNP gnomAD v4
8g.60853364T>GCA461105522CHD7c.6639T>G (p.Ser2213=)
c.1717-8865T>G (n.1717-8865T>G)
c.6729T>G (p.Ser2243=)
c.4716T>G (p.Ser1572=)
c.4266T>G (p.Ser1422=)
c.3474T>G (p.Ser1158=)
8g.60853364T=CA1788104877CHD7c.6639T= (p.Ser2213=)
c.1717-8865T= (n.1717-8865T=)
c.6729T= (p.Ser2243=)
c.4716T= (p.Ser1572=)
c.4266T= (p.Ser1422=)
c.3474T= (p.Ser1158=)
8g.60853366_60853367delCA645546298CHD7c.6641_6642del (p.Val2214GlufsTer3)
c.1717-8863_1717-8862del (n.1717-8863_1717-8862del)
c.6731_6732del (p.Val2244GlufsTer3)
c.4718_4719del (p.Val1573GlufsTer3)
c.4268_4269del (p.Val1423GlufsTer3)
c.3476_3477del (p.Val1159GlufsTer3)
 ClinVar dbSNP COSMIC
8g.60853365G>ACA371326007CHD7c.6640G>A (p.Val2214Met)
c.1717-8864G>A (n.1717-8864G>A)
c.6730G>A (p.Val2244Met)
c.4717G>A (p.Val1573Met)
c.4267G>A (p.Val1423Met)
c.3475G>A (p.Val1159Met)
 gnomAD v4
8g.60853365G>CCA371326008CHD7c.6640G>C (p.Val2214Leu)
c.1717-8864G>C (n.1717-8864G>C)
c.6730G>C (p.Val2244Leu)
c.4717G>C (p.Val1573Leu)
c.4267G>C (p.Val1423Leu)
c.3475G>C (p.Val1159Leu)
8g.60853365G>TCA371326006CHD7c.6640G>T (p.Val2214Leu)
c.1717-8864G>T (n.1717-8864G>T)
c.6730G>T (p.Val2244Leu)
c.4717G>T (p.Val1573Leu)
c.4267G>T (p.Val1423Leu)
c.3475G>T (p.Val1159Leu)
8g.60853366T>ACA371326009CHD7c.6641T>A (p.Val2214Glu)
c.1717-8863T>A (n.1717-8863T>A)
c.6731T>A (p.Val2244Glu)
c.4718T>A (p.Val1573Glu)
c.4268T>A (p.Val1423Glu)
c.3476T>A (p.Val1159Glu)
8g.60853366T>CCA371326011CHD7c.6641T>C (p.Val2214Ala)
c.1717-8863T>C (n.1717-8863T>C)
c.6731T>C (p.Val2244Ala)
c.4718T>C (p.Val1573Ala)
c.4268T>C (p.Val1423Ala)
c.3476T>C (p.Val1159Ala)
8g.60853366T>GCA371326010CHD7c.6641T>G (p.Val2214Gly)
c.1717-8863T>G (n.1717-8863T>G)
c.6731T>G (p.Val2244Gly)
c.4718T>G (p.Val1573Gly)
c.4268T>G (p.Val1423Gly)
c.3476T>G (p.Val1159Gly)
8g.60853367G>ACA461105526CHD7c.6642G>A (p.Val2214=)
c.1717-8862G>A (n.1717-8862G>A)
c.6732G>A (p.Val2244=)
c.4719G>A (p.Val1573=)
c.4269G>A (p.Val1423=)
c.3477G>A (p.Val1159=)
8g.60853367G>CCA461105529CHD7c.6642G>C (p.Val2214=)
c.1717-8862G>C (n.1717-8862G>C)
c.6732G>C (p.Val2244=)
c.4719G>C (p.Val1573=)
c.4269G>C (p.Val1423=)
c.3477G>C (p.Val1159=)
8g.60853367G>TCA461105528CHD7c.6642G>T (p.Val2214=)
c.1717-8862G>T (n.1717-8862G>T)
c.6732G>T (p.Val2244=)
c.4719G>T (p.Val1573=)
c.4269G>T (p.Val1423=)
c.3477G>T (p.Val1159=)
8g.60853368A>CCA371326012CHD7c.6643A>C (p.Lys2215Gln)
c.1717-8861A>C (n.1717-8861A>C)
c.6733A>C (p.Lys2245Gln)
c.4720A>C (p.Lys1574Gln)
c.4270A>C (p.Lys1424Gln)
c.3478A>C (p.Lys1160Gln)
8g.60853368A>GCA371326013CHD7c.6643A>G (p.Lys2215Glu)
c.1717-8861A>G (n.1717-8861A>G)
c.6733A>G (p.Lys2245Glu)
c.4720A>G (p.Lys1574Glu)
c.4270A>G (p.Lys1424Glu)
c.3478A>G (p.Lys1160Glu)
8g.60853368A>TCA371326014CHD7c.6643A>T (p.Lys2215Ter)
c.1717-8861A>T (n.1717-8861A>T)
c.6733A>T (p.Lys2245Ter)
c.4720A>T (p.Lys1574Ter)
c.4270A>T (p.Lys1424Ter)
c.3478A>T (p.Lys1160Ter)
8g.60853372delCA2687404403CHD7c.6647del (p.Asn2216MetfsTer3)
c.1717-8857del (n.1717-8857del)
c.6737del (p.Asn2246MetfsTer3)
c.4724del (p.Asn1575MetfsTer3)
c.4274del (p.Asn1425MetfsTer3)
c.3482del (p.Asn1161MetfsTer3)
 gnomAD v4
8g.60853369A>CCA371326015CHD7c.6644A>C (p.Lys2215Thr)
c.1717-8860A>C (n.1717-8860A>C)
c.6734A>C (p.Lys2245Thr)
c.4721A>C (p.Lys1574Thr)
c.4271A>C (p.Lys1424Thr)
c.3479A>C (p.Lys1160Thr)
8g.60853369A>GCA371326016CHD7c.6644A>G (p.Lys2215Arg)
c.1717-8860A>G (n.1717-8860A>G)
c.6734A>G (p.Lys2245Arg)
c.4721A>G (p.Lys1574Arg)
c.4271A>G (p.Lys1424Arg)
c.3479A>G (p.Lys1160Arg)
8g.60853369A>TCA371326017CHD7c.6644A>T (p.Lys2215Ile)
c.1717-8860A>T (n.1717-8860A>T)
c.6734A>T (p.Lys2245Ile)
c.4721A>T (p.Lys1574Ile)
c.4271A>T (p.Lys1424Ile)
c.3479A>T (p.Lys1160Ile)
8g.60853370A>CCA371326018CHD7c.6645A>C (p.Lys2215Asn)
c.1717-8859A>C (n.1717-8859A>C)
c.6735A>C (p.Lys2245Asn)
c.4722A>C (p.Lys1574Asn)
c.4272A>C (p.Lys1424Asn)
c.3480A>C (p.Lys1160Asn)
8g.60853370A>GCA461105535CHD7c.6645A>G (p.Lys2215=)
c.1717-8859A>G (n.1717-8859A>G)
c.6735A>G (p.Lys2245=)
c.4722A>G (p.Lys1574=)
c.4272A>G (p.Lys1424=)
c.3480A>G (p.Lys1160=)
8g.60853370A>TCA371326019CHD7c.6645A>T (p.Lys2215Asn)
c.1717-8859A>T (n.1717-8859A>T)
c.6735A>T (p.Lys2245Asn)
c.4722A>T (p.Lys1574Asn)
c.4272A>T (p.Lys1424Asn)
c.3480A>T (p.Lys1160Asn)
8g.60853371A>CCA371326020CHD7c.6646A>C (p.Asn2216His)
c.1717-8858A>C (n.1717-8858A>C)
c.6736A>C (p.Asn2246His)
c.4723A>C (p.Asn1575His)
c.4273A>C (p.Asn1425His)
c.3481A>C (p.Asn1161His)
8g.60853371A>GCA371326021CHD7c.6646A>G (p.Asn2216Asp)
c.1717-8858A>G (n.1717-8858A>G)
c.6736A>G (p.Asn2246Asp)
c.4723A>G (p.Asn1575Asp)
c.4273A>G (p.Asn1425Asp)
c.3481A>G (p.Asn1161Asp)
8g.60853371A>TCA371326022CHD7c.6646A>T (p.Asn2216Tyr)
c.1717-8858A>T (n.1717-8858A>T)
c.6736A>T (p.Asn2246Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4273A>T (p.Asn1425Tyr)
c.3481A>T (p.Asn1161Tyr)
8g.60853372A=CA1788104882CHD7c.6647A= (p.Asn2216=)
c.1717-8857A= (n.1717-8857A=)
c.6737A= (p.Asn2246=)
c.4724A= (p.Asn1575=)
c.4274A= (p.Asn1425=)
c.3482A= (p.Asn1161=)
8g.60853372A>CCA371326023CHD7c.6647A>C (p.Asn2216Thr)
c.1717-8857A>C (n.1717-8857A>C)
c.6737A>C (p.Asn2246Thr)
c.4724A>C (p.Asn1575Thr)
c.4274A>C (p.Asn1425Thr)
c.3482A>C (p.Asn1161Thr)
8g.60853372A>GCA371326024CHD7c.6647A>G (p.Asn2216Ser)
c.1717-8857A>G (n.1717-8857A>G)
c.6737A>G (p.Asn2246Ser)
c.4724A>G (p.Asn1575Ser)
c.4274A>G (p.Asn1425Ser)
c.3482A>G (p.Asn1161Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853372A>TCA371326025CHD7c.6647A>T (p.Asn2216Ile)
c.1717-8857A>T (n.1717-8857A>T)
c.6737A>T (p.Asn2246Ile)
c.4724A>T (p.Asn1575Ile)
c.4274A>T (p.Asn1425Ile)
c.3482A>T (p.Asn1161Ile)
8g.60853373T>ACA371326027CHD7c.6648T>A (p.Asn2216Lys)
c.1717-8856T>A (n.1717-8856T>A)
c.6738T>A (p.Asn2246Lys)
c.4725T>A (p.Asn1575Lys)
c.4275T>A (p.Asn1425Lys)
c.3483T>A (p.Asn1161Lys)
8g.60853373T>CCA461105539CHD7c.6648T>C (p.Asn2216=)
c.1717-8856T>C (n.1717-8856T>C)
c.6738T>C (p.Asn2246=)
c.4725T>C (p.Asn1575=)
c.4275T>C (p.Asn1425=)
c.3483T>C (p.Asn1161=)
 dbSNP COSMIC
8g.60853373T>GCA371326026CHD7c.6648T>G (p.Asn2216Lys)
c.1717-8856T>G (n.1717-8856T>G)
c.6738T>G (p.Asn2246Lys)
c.4725T>G (p.Asn1575Lys)
c.4275T>G (p.Asn1425Lys)
c.3483T>G (p.Asn1161Lys)
8g.60853373T=CA1788104900CHD7c.6648T= (p.Asn2216=)
c.1717-8856T= (n.1717-8856T=)
c.6738T= (p.Asn2246=)
c.4725T= (p.Asn1575=)
c.4275T= (p.Asn1425=)
c.3483T= (p.Asn1161=)
8g.60853377_60853381delCA2695209434CHD7c.6652_6656del (p.Leu2218ArgfsTer3)
c.1717-8852_1717-8848del (n.1717-8852_1717-8848del)
c.6742_6746del (p.Leu2248ArgfsTer3)
c.4729_4733del (p.Leu1577ArgfsTer3)
c.4279_4283del (p.Leu1427ArgfsTer3)
c.3487_3491del (p.Leu1163ArgfsTer3)
8g.60853374G>ACA371326028CHD7c.6649G>A (p.Glu2217Lys)
c.1717-8855G>A (n.1717-8855G>A)
c.6739G>A (p.Glu2247Lys)
c.4726G>A (p.Glu1576Lys)
c.4276G>A (p.Glu1426Lys)
c.3484G>A (p.Glu1162Lys)
8g.60853374G>CCA371326029CHD7c.6649G>C (p.Glu2217Gln)
c.1717-8855G>C (n.1717-8855G>C)
c.6739G>C (p.Glu2247Gln)
c.4726G>C (p.Glu1576Gln)
c.4276G>C (p.Glu1426Gln)
c.3484G>C (p.Glu1162Gln)
8g.60853374G>TCA371326030CHD7c.6649G>T (p.Glu2217Ter)
c.1717-8855G>T (n.1717-8855G>T)
c.6739G>T (p.Glu2247Ter)
c.4726G>T (p.Glu1576Ter)
c.4276G>T (p.Glu1426Ter)
c.3484G>T (p.Glu1162Ter)
8g.60853375A>CCA371326031CHD7c.6650A>C (p.Glu2217Ala)
c.1717-8854A>C (n.1717-8854A>C)
c.6740A>C (p.Glu2247Ala)
c.4727A>C (p.Glu1576Ala)
c.4277A>C (p.Glu1426Ala)
c.3485A>C (p.Glu1162Ala)
8g.60853375A>GCA371326032CHD7c.6650A>G (p.Glu2217Gly)
c.1717-8854A>G (n.1717-8854A>G)
c.6740A>G (p.Glu2247Gly)
c.4727A>G (p.Glu1576Gly)
c.4277A>G (p.Glu1426Gly)
c.3485A>G (p.Glu1162Gly)
8g.60853375A>TCA371326033CHD7c.6650A>T (p.Glu2217Val)
c.1717-8854A>T (n.1717-8854A>T)
c.6740A>T (p.Glu2247Val)
c.4727A>T (p.Glu1576Val)
c.4277A>T (p.Glu1426Val)
c.3485A>T (p.Glu1162Val)
8g.60853376delCA2695209435CHD7c.6651del (p.Glu2217AspfsTer2)
c.1717-8853del (n.1717-8853del)
c.6741del (p.Glu2247AspfsTer2)
c.4728del (p.Glu1576AspfsTer2)
c.4278del (p.Glu1426AspfsTer2)
c.3486del (p.Glu1162AspfsTer2)
8g.60853376A=CA1788104909CHD7c.6651A= (p.Glu2217=)
c.1717-8853A= (n.1717-8853A=)
c.6741A= (p.Glu2247=)
c.4728A= (p.Glu1576=)
c.4278A= (p.Glu1426=)
c.3486A= (p.Glu1162=)
8g.60853376A>CCA371326034CHD7c.6651A>C (p.Glu2217Asp)
c.1717-8853A>C (n.1717-8853A>C)
c.6741A>C (p.Glu2247Asp)
c.4728A>C (p.Glu1576Asp)
c.4278A>C (p.Glu1426Asp)
c.3486A>C (p.Glu1162Asp)
 dbSNP gnomAD v4
8g.60853376A>GCA461105545CHD7c.6651A>G (p.Glu2217=)
c.1717-8853A>G (n.1717-8853A>G)
c.6741A>G (p.Glu2247=)
c.4728A>G (p.Glu1576=)
c.4278A>G (p.Glu1426=)
c.3486A>G (p.Glu1162=)
8g.60853376A>TCA371326035CHD7c.6651A>T (p.Glu2217Asp)
c.1717-8853A>T (n.1717-8853A>T)
c.6741A>T (p.Glu2247Asp)
c.4728A>T (p.Glu1576Asp)
c.4278A>T (p.Glu1426Asp)
c.3486A>T (p.Glu1162Asp)
8g.60853377C>ACA371326036CHD7c.6652C>A (p.Leu2218Met)
c.1717-8852C>A (n.1717-8852C>A)
c.6742C>A (p.Leu2248Met)
c.4729C>A (p.Leu1577Met)
c.4279C>A (p.Leu1427Met)
c.3487C>A (p.Leu1163Met)
 gnomAD v4
8g.60853377C>GCA371326037CHD7c.6652C>G (p.Leu2218Val)
c.1717-8852C>G (n.1717-8852C>G)
c.6742C>G (p.Leu2248Val)
c.4729C>G (p.Leu1577Val)
c.4279C>G (p.Leu1427Val)
c.3487C>G (p.Leu1163Val)
8g.60853377C>TCA461105547CHD7c.6652C>T (p.Leu2218=)
c.1717-8852C>T (n.1717-8852C>T)
c.6742C>T (p.Leu2248=)
c.4729C>T (p.Leu1577=)
c.4279C>T (p.Leu1427=)
c.3487C>T (p.Leu1163=)
8g.60853378T>ACA371326038CHD7c.6653T>A (p.Leu2218Gln)
c.1717-8851T>A (n.1717-8851T>A)
c.6743T>A (p.Leu2248Gln)
c.4730T>A (p.Leu1577Gln)
c.4280T>A (p.Leu1427Gln)
c.3488T>A (p.Leu1163Gln)
8g.60853378T>CCA4760625CHD7c.6653T>C (p.Leu2218Pro)
c.1717-8851T>C (n.1717-8851T>C)
c.6743T>C (p.Leu2248Pro)
c.4730T>C (p.Leu1577Pro)
c.4280T>C (p.Leu1427Pro)
c.3488T>C (p.Leu1163Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853378T>GCA371326039CHD7c.6653T>G (p.Leu2218Arg)
c.1717-8851T>G (n.1717-8851T>G)
c.6743T>G (p.Leu2248Arg)
c.4730T>G (p.Leu1577Arg)
c.4280T>G (p.Leu1427Arg)
c.3488T>G (p.Leu1163Arg)
8g.60853378T=CA1788104914CHD7c.6653T= (p.Leu2218=)
c.1717-8851T= (n.1717-8851T=)
c.6743T= (p.Leu2248=)
c.4730T= (p.Leu1577=)
c.4280T= (p.Leu1427=)
c.3488T= (p.Leu1163=)

Number of alleles fetched