Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853195T>ACA371325345CHD7c.6470T>A (p.Ile2157Asn)
c.1717-9034T>A (n.1717-9034T>A)
c.6560T>A (p.Ile2187Asn)
c.4547T>A (p.Ile1516Asn)
c.4097T>A (p.Ile1366Asn)
c.3305T>A (p.Ile1102Asn)
8g.60853195T>CCA371325347CHD7c.6470T>C (p.Ile2157Thr)
c.1717-9034T>C (n.1717-9034T>C)
c.6560T>C (p.Ile2187Thr)
c.4547T>C (p.Ile1516Thr)
c.4097T>C (p.Ile1366Thr)
c.3305T>C (p.Ile1102Thr)
 dbSNP gnomAD v4
8g.60853195T>GCA371325349CHD7c.6470T>G (p.Ile2157Ser)
c.1717-9034T>G (n.1717-9034T>G)
c.6560T>G (p.Ile2187Ser)
c.4547T>G (p.Ile1516Ser)
c.4097T>G (p.Ile1366Ser)
c.3305T>G (p.Ile1102Ser)
8g.60853195T=CA1788104033CHD7c.6470T= (p.Ile2157=)
c.1717-9034T= (n.1717-9034T=)
c.6560T= (p.Ile2187=)
c.4547T= (p.Ile1516=)
c.4097T= (p.Ile1366=)
c.3305T= (p.Ile1102=)
8g.60853196C>ACA461105055CHD7c.6471C>A (p.Ile2157=)
c.1717-9033C>A (n.1717-9033C>A)
c.6561C>A (p.Ile2187=)
c.4548C>A (p.Ile1516=)
c.4098C>A (p.Ile1366=)
c.3306C>A (p.Ile1102=)
8g.60853196C=CA1788104038CHD7c.6471C= (p.Ile2157=)
c.1717-9033C= (n.1717-9033C=)
c.6561C= (p.Ile2187=)
c.4548C= (p.Ile1516=)
c.4098C= (p.Ile1366=)
c.3306C= (p.Ile1102=)
8g.60853196C>GCA371325351CHD7c.6471C>G (p.Ile2157Met)
c.1717-9033C>G (n.1717-9033C>G)
c.6561C>G (p.Ile2187Met)
c.4548C>G (p.Ile1516Met)
c.4098C>G (p.Ile1366Met)
c.3306C>G (p.Ile1102Met)
 gnomAD v4
8g.60853196C>TCA461105056CHD7c.6471C>T (p.Ile2157=)
c.1717-9033C>T (n.1717-9033C>T)
c.6561C>T (p.Ile2187=)
c.4548C>T (p.Ile1516=)
c.4098C>T (p.Ile1366=)
c.3306C>T (p.Ile1102=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853197T>ACA371325354CHD7c.6472T>A (p.Ser2158Thr)
c.1717-9032T>A (n.1717-9032T>A)
c.6562T>A (p.Ser2188Thr)
c.4549T>A (p.Ser1517Thr)
c.4099T>A (p.Ser1367Thr)
c.3307T>A (p.Ser1103Thr)
8g.60853197T>CCA371325357CHD7c.6472T>C (p.Ser2158Pro)
c.1717-9032T>C (n.1717-9032T>C)
c.6562T>C (p.Ser2188Pro)
c.4549T>C (p.Ser1517Pro)
c.4099T>C (p.Ser1367Pro)
c.3307T>C (p.Ser1103Pro)
 dbSNP gnomAD v3 gnomAD v4
8g.60853197T>GCA371325359CHD7c.6472T>G (p.Ser2158Ala)
c.1717-9032T>G (n.1717-9032T>G)
c.6562T>G (p.Ser2188Ala)
c.4549T>G (p.Ser1517Ala)
c.4099T>G (p.Ser1367Ala)
c.3307T>G (p.Ser1103Ala)
8g.60853197T=CA1788104043CHD7c.6472T= (p.Ser2158=)
c.1717-9032T= (n.1717-9032T=)
c.6562T= (p.Ser2188=)
c.4549T= (p.Ser1517=)
c.4099T= (p.Ser1367=)
c.3307T= (p.Ser1103=)
8g.60853197_60853198delinsTCCA1788104045CHD7c.6472_6473delinsTC (p.Ser2158=)
c.1717-9032_1717-9031delinsTC (n.1717-9032_1717-9031delinsTC)
c.6562_6563delinsTC (p.Ser2188=)
c.4549_4550delinsTC (p.Ser1517=)
c.4099_4100delinsTC (p.Ser1367=)
c.3307_3308delinsTC (p.Ser1103=)
8g.60853198delCA891843138CHD7c.6473del (p.Ser2158TyrfsTer?)
c.1717-9031del (n.1717-9031del)
c.6563del (p.Ser2188TyrfsTer?)
c.4550del (p.Ser1517TyrfsTer?)
c.4100del (p.Ser1367TyrfsTer?)
c.3308del (p.Ser1103TyrfsTer?)
 ClinVar dbSNP
8g.60853198C>ACA371325363CHD7c.6473C>A (p.Ser2158Ter)
c.1717-9031C>A (n.1717-9031C>A)
c.6563C>A (p.Ser2188Ter)
c.4550C>A (p.Ser1517Ter)
c.4100C>A (p.Ser1367Ter)
c.3308C>A (p.Ser1103Ter)
 ClinVar dbSNP
8g.60853198C=CA1788104063CHD7c.6473C= (p.Ser2158=)
c.1717-9031C= (n.1717-9031C=)
c.6563C= (p.Ser2188=)
c.4550C= (p.Ser1517=)
c.4100C= (p.Ser1367=)
c.3308C= (p.Ser1103=)
8g.60853198C>GCA371325365CHD7c.6473C>G (p.Ser2158Ter)
c.1717-9031C>G (n.1717-9031C>G)
c.6563C>G (p.Ser2188Ter)
c.4550C>G (p.Ser1517Ter)
c.4100C>G (p.Ser1367Ter)
c.3308C>G (p.Ser1103Ter)
8g.60853198C>TCA4760595CHD7c.6473C>T (p.Ser2158Leu)
c.1717-9031C>T (n.1717-9031C>T)
c.6563C>T (p.Ser2188Leu)
c.4550C>T (p.Ser1517Leu)
c.4100C>T (p.Ser1367Leu)
c.3308C>T (p.Ser1103Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853199A=CA1788104098CHD7c.6474A= (p.Ser2158=)
c.1717-9030A= (n.1717-9030A=)
c.6564A= (p.Ser2188=)
c.4551A= (p.Ser1517=)
c.4101A= (p.Ser1367=)
c.3309A= (p.Ser1103=)
8g.60853199A>CCA461105057CHD7c.6474A>C (p.Ser2158=)
c.1717-9030A>C (n.1717-9030A>C)
c.6564A>C (p.Ser2188=)
c.4551A>C (p.Ser1517=)
c.4101A>C (p.Ser1367=)
c.3309A>C (p.Ser1103=)
8g.60853199A>GCA4760596CHD7c.6474A>G (p.Ser2158=)
c.1717-9030A>G (n.1717-9030A>G)
c.6564A>G (p.Ser2188=)
c.4551A>G (p.Ser1517=)
c.4101A>G (p.Ser1367=)
c.3309A>G (p.Ser1103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853199A>TCA461105058CHD7c.6474A>T (p.Ser2158=)
c.1717-9030A>T (n.1717-9030A>T)
c.6564A>T (p.Ser2188=)
c.4551A>T (p.Ser1517=)
c.4101A>T (p.Ser1367=)
c.3309A>T (p.Ser1103=)
 dbSNP
8g.60853200T>ACA371325368CHD7c.6475T>A (p.Ser2159Thr)
c.1717-9029T>A (n.1717-9029T>A)
c.6565T>A (p.Ser2189Thr)
c.4552T>A (p.Ser1518Thr)
c.4102T>A (p.Ser1368Thr)
c.3310T>A (p.Ser1104Thr)
8g.60853200T>CCA371325369CHD7c.6475T>C (p.Ser2159Pro)
c.1717-9029T>C (n.1717-9029T>C)
c.6565T>C (p.Ser2189Pro)
c.4552T>C (p.Ser1518Pro)
c.4102T>C (p.Ser1368Pro)
c.3310T>C (p.Ser1104Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.60853200T>GCA371325372CHD7c.6475T>G (p.Ser2159Ala)
c.1717-9029T>G (n.1717-9029T>G)
c.6565T>G (p.Ser2189Ala)
c.4552T>G (p.Ser1518Ala)
c.4102T>G (p.Ser1368Ala)
c.3310T>G (p.Ser1104Ala)
8g.60853200T=CA1788104110CHD7c.6475T= (p.Ser2159=)
c.1717-9029T= (n.1717-9029T=)
c.6565T= (p.Ser2189=)
c.4552T= (p.Ser1518=)
c.4102T= (p.Ser1368=)
c.3310T= (p.Ser1104=)
8g.60853201C>ACA371325374CHD7c.6476C>A (p.Ser2159Tyr)
c.1717-9028C>A (n.1717-9028C>A)
c.6566C>A (p.Ser2189Tyr)
c.4553C>A (p.Ser1518Tyr)
c.4103C>A (p.Ser1368Tyr)
c.3311C>A (p.Ser1104Tyr)
 ClinVar dbSNP
8g.60853201C=CA1788104117CHD7c.6476C= (p.Ser2159=)
c.1717-9028C= (n.1717-9028C=)
c.6566C= (p.Ser2189=)
c.4553C= (p.Ser1518=)
c.4103C= (p.Ser1368=)
c.3311C= (p.Ser1104=)
8g.60853201C>GCA371325377CHD7c.6476C>G (p.Ser2159Cys)
c.1717-9028C>G (n.1717-9028C>G)
c.6566C>G (p.Ser2189Cys)
c.4553C>G (p.Ser1518Cys)
c.4103C>G (p.Ser1368Cys)
c.3311C>G (p.Ser1104Cys)
8g.60853201C>TCA371325378CHD7c.6476C>T (p.Ser2159Phe)
c.1717-9028C>T (n.1717-9028C>T)
c.6566C>T (p.Ser2189Phe)
c.4553C>T (p.Ser1518Phe)
c.4103C>T (p.Ser1368Phe)
c.3311C>T (p.Ser1104Phe)
 dbSNP
8g.60853202T>ACA461105059CHD7c.6477T>A (p.Ser2159=)
c.1717-9027T>A (n.1717-9027T>A)
c.6567T>A (p.Ser2189=)
c.4554T>A (p.Ser1518=)
c.4104T>A (p.Ser1368=)
c.3312T>A (p.Ser1104=)
8g.60853202T>CCA461105060CHD7c.6477T>C (p.Ser2159=)
c.1717-9027T>C (n.1717-9027T>C)
c.6567T>C (p.Ser2189=)
c.4554T>C (p.Ser1518=)
c.4104T>C (p.Ser1368=)
c.3312T>C (p.Ser1104=)
8g.60853202T>GCA461105061CHD7c.6477T>G (p.Ser2159=)
c.1717-9027T>G (n.1717-9027T>G)
c.6567T>G (p.Ser2189=)
c.4554T>G (p.Ser1518=)
c.4104T>G (p.Ser1368=)
c.3312T>G (p.Ser1104=)
8g.60853203G>ACA171759CHD7c.6478G>A (p.Ala2160Thr)
c.1717-9026G>A (n.1717-9026G>A)
c.6568G>A (p.Ala2190Thr)
c.4555G>A (p.Ala1519Thr)
c.4105G>A (p.Ala1369Thr)
c.3313G>A (p.Ala1105Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853203G>CCA371325382CHD7c.6478G>C (p.Ala2160Pro)
c.1717-9026G>C (n.1717-9026G>C)
c.6568G>C (p.Ala2190Pro)
c.4555G>C (p.Ala1519Pro)
c.4105G>C (p.Ala1369Pro)
c.3313G>C (p.Ala1105Pro)
8g.60853203G=CA1788104129CHD7c.6478G= (p.Ala2160=)
c.1717-9026G= (n.1717-9026G=)
c.6568G= (p.Ala2190=)
c.4555G= (p.Ala1519=)
c.4105G= (p.Ala1369=)
c.3313G= (p.Ala1105=)
8g.60853203G>TCA371325381CHD7c.6478G>T (p.Ala2160Ser)
c.1717-9026G>T (n.1717-9026G>T)
c.6568G>T (p.Ala2190Ser)
c.4555G>T (p.Ala1519Ser)
c.4105G>T (p.Ala1369Ser)
c.3313G>T (p.Ala1105Ser)
8g.60853204C>ACA371325385CHD7c.6479C>A (p.Ala2160Asp)
c.1717-9025C>A (n.1717-9025C>A)
c.6569C>A (p.Ala2190Asp)
c.4556C>A (p.Ala1519Asp)
c.4106C>A (p.Ala1369Asp)
c.3314C>A (p.Ala1105Asp)
8g.60853204C>GCA371325386CHD7c.6479C>G (p.Ala2160Gly)
c.1717-9025C>G (n.1717-9025C>G)
c.6569C>G (p.Ala2190Gly)
c.4556C>G (p.Ala1519Gly)
c.4106C>G (p.Ala1369Gly)
c.3314C>G (p.Ala1105Gly)
 gnomAD v4
8g.60853204C>TCA371325387CHD7c.6479C>T (p.Ala2160Val)
c.1717-9025C>T (n.1717-9025C>T)
c.6569C>T (p.Ala2190Val)
c.4556C>T (p.Ala1519Val)
c.4106C>T (p.Ala1369Val)
c.3314C>T (p.Ala1105Val)
8g.60853205T>ACA461105062CHD7c.6480T>A (p.Ala2160=)
c.1717-9024T>A (n.1717-9024T>A)
c.6570T>A (p.Ala2190=)
c.4557T>A (p.Ala1519=)
c.4107T>A (p.Ala1369=)
c.3315T>A (p.Ala1105=)
 dbSNP gnomAD v2 gnomAD v4
8g.60853205T>CCA461105063CHD7c.6480T>C (p.Ala2160=)
c.1717-9024T>C (n.1717-9024T>C)
c.6570T>C (p.Ala2190=)
c.4557T>C (p.Ala1519=)
c.4107T>C (p.Ala1369=)
c.3315T>C (p.Ala1105=)
8g.60853205T>GCA4760597CHD7c.6480T>G (p.Ala2160=)
c.1717-9024T>G (n.1717-9024T>G)
c.6570T>G (p.Ala2190=)
c.4557T>G (p.Ala1519=)
c.4107T>G (p.Ala1369=)
c.3315T>G (p.Ala1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853205T=CA1788104135CHD7c.6480T= (p.Ala2160=)
c.1717-9024T= (n.1717-9024T=)
c.6570T= (p.Ala2190=)
c.4557T= (p.Ala1519=)
c.4107T= (p.Ala1369=)
c.3315T= (p.Ala1105=)
8g.60853206C>ACA371325388CHD7c.6481C>A (p.His2161Asn)
c.1717-9023C>A (n.1717-9023C>A)
c.6571C>A (p.His2191Asn)
c.4558C>A (p.His1520Asn)
c.4108C>A (p.His1370Asn)
c.3316C>A (p.His1106Asn)
8g.60853206C>GCA371325390CHD7c.6481C>G (p.His2161Asp)
c.1717-9023C>G (n.1717-9023C>G)
c.6571C>G (p.His2191Asp)
c.4558C>G (p.His1520Asp)
c.4108C>G (p.His1370Asp)
c.3316C>G (p.His1106Asp)
8g.60853206C>TCA371325389CHD7c.6481C>T (p.His2161Tyr)
c.1717-9023C>T (n.1717-9023C>T)
c.6571C>T (p.His2191Tyr)
c.4558C>T (p.His1520Tyr)
c.4108C>T (p.His1370Tyr)
c.3316C>T (p.His1106Tyr)
8g.60853207A=CA1788104139CHD7c.6482A= (p.His2161=)
c.1717-9022A= (n.1717-9022A=)
c.6572A= (p.His2191=)
c.4559A= (p.His1520=)
c.4109A= (p.His1370=)
c.3317A= (p.His1106=)
8g.60853207A>CCA371325399CHD7c.6482A>C (p.His2161Pro)
c.1717-9022A>C (n.1717-9022A>C)
c.6572A>C (p.His2191Pro)
c.4559A>C (p.His1520Pro)
c.4109A>C (p.His1370Pro)
c.3317A>C (p.His1106Pro)
8g.60853207A>GCA371325400CHD7c.6482A>G (p.His2161Arg)
c.1717-9022A>G (n.1717-9022A>G)
c.6572A>G (p.His2191Arg)
c.4559A>G (p.His1520Arg)
c.4109A>G (p.His1370Arg)
c.3317A>G (p.His1106Arg)
 dbSNP
8g.60853207A>TCA371325402CHD7c.6482A>T (p.His2161Leu)
c.1717-9022A>T (n.1717-9022A>T)
c.6572A>T (p.His2191Leu)
c.4559A>T (p.His1520Leu)
c.4109A>T (p.His1370Leu)
c.3317A>T (p.His1106Leu)
8g.60853208T>ACA4760598CHD7c.6483T>A (p.His2161Gln)
c.1717-9021T>A (n.1717-9021T>A)
c.6573T>A (p.His2191Gln)
c.4560T>A (p.His1520Gln)
c.4110T>A (p.His1370Gln)
c.3318T>A (p.His1106Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853208T>CCA461105064CHD7c.6483T>C (p.His2161=)
c.1717-9021T>C (n.1717-9021T>C)
c.6573T>C (p.His2191=)
c.4560T>C (p.His1520=)
c.4110T>C (p.His1370=)
c.3318T>C (p.His1106=)
8g.60853208T>GCA371325406CHD7c.6483T>G (p.His2161Gln)
c.1717-9021T>G (n.1717-9021T>G)
c.6573T>G (p.His2191Gln)
c.4560T>G (p.His1520Gln)
c.4110T>G (p.His1370Gln)
c.3318T>G (p.His1106Gln)
8g.60853208T=CA1788104166CHD7c.6483T= (p.His2161=)
c.1717-9021T= (n.1717-9021T=)
c.6573T= (p.His2191=)
c.4560T= (p.His1520=)
c.4110T= (p.His1370=)
c.3318T= (p.His1106=)
8g.60853209A>CCA371325409CHD7c.6484A>C (p.Ile2162Leu)
c.1717-9020A>C (n.1717-9020A>C)
c.6574A>C (p.Ile2192Leu)
c.4561A>C (p.Ile1521Leu)
c.4111A>C (p.Ile1371Leu)
c.3319A>C (p.Ile1107Leu)
8g.60853209A>GCA371325410CHD7c.6484A>G (p.Ile2162Val)
c.1717-9020A>G (n.1717-9020A>G)
c.6574A>G (p.Ile2192Val)
c.4561A>G (p.Ile1521Val)
c.4111A>G (p.Ile1371Val)
c.3319A>G (p.Ile1107Val)
 gnomAD v4
8g.60853209A>TCA371325413CHD7c.6484A>T (p.Ile2162Phe)
c.1717-9020A>T (n.1717-9020A>T)
c.6574A>T (p.Ile2192Phe)
c.4561A>T (p.Ile1521Phe)
c.4111A>T (p.Ile1371Phe)
c.3319A>T (p.Ile1107Phe)
8g.60853210T>ACA371325415CHD7c.6485T>A (p.Ile2162Asn)
c.1717-9019T>A (n.1717-9019T>A)
c.6575T>A (p.Ile2192Asn)
c.4562T>A (p.Ile1521Asn)
c.4112T>A (p.Ile1371Asn)
c.3320T>A (p.Ile1107Asn)
 gnomAD v4
8g.60853210T>CCA371325417CHD7c.6485T>C (p.Ile2162Thr)
c.1717-9019T>C (n.1717-9019T>C)
c.6575T>C (p.Ile2192Thr)
c.4562T>C (p.Ile1521Thr)
c.4112T>C (p.Ile1371Thr)
c.3320T>C (p.Ile1107Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853210T>GCA371325420CHD7c.6485T>G (p.Ile2162Ser)
c.1717-9019T>G (n.1717-9019T>G)
c.6575T>G (p.Ile2192Ser)
c.4562T>G (p.Ile1521Ser)
c.4112T>G (p.Ile1371Ser)
c.3320T>G (p.Ile1107Ser)
 ClinVar
8g.60853210T=CA1788104172CHD7c.6485T= (p.Ile2162=)
c.1717-9019T= (n.1717-9019T=)
c.6575T= (p.Ile2192=)
c.4562T= (p.Ile1521=)
c.4112T= (p.Ile1371=)
c.3320T= (p.Ile1107=)
8g.60853211T>ACA461105065CHD7c.6486T>A (p.Ile2162=)
c.1717-9018T>A (n.1717-9018T>A)
c.6576T>A (p.Ile2192=)
c.4563T>A (p.Ile1521=)
c.4113T>A (p.Ile1371=)
c.3321T>A (p.Ile1107=)
8g.60853211T>CCA461105066CHD7c.6486T>C (p.Ile2162=)
c.1717-9018T>C (n.1717-9018T>C)
c.6576T>C (p.Ile2192=)
c.4563T>C (p.Ile1521=)
c.4113T>C (p.Ile1371=)
c.3321T>C (p.Ile1107=)
8g.60853211T>GCA371325422CHD7c.6486T>G (p.Ile2162Met)
c.1717-9018T>G (n.1717-9018T>G)
c.6576T>G (p.Ile2192Met)
c.4563T>G (p.Ile1521Met)
c.4113T>G (p.Ile1371Met)
c.3321T>G (p.Ile1107Met)
8g.60853212C>ACA371325425CHD7c.6487C>A (p.Gln2163Lys)
c.1717-9017C>A (n.1717-9017C>A)
c.6577C>A (p.Gln2193Lys)
c.4564C>A (p.Gln1522Lys)
c.4114C>A (p.Gln1372Lys)
c.3322C>A (p.Gln1108Lys)
8g.60853212C>GCA371325423CHD7c.6487C>G (p.Gln2163Glu)
c.1717-9017C>G (n.1717-9017C>G)
c.6577C>G (p.Gln2193Glu)
c.4564C>G (p.Gln1522Glu)
c.4114C>G (p.Gln1372Glu)
c.3322C>G (p.Gln1108Glu)
8g.60853212C>TCA371325427CHD7c.6487C>T (p.Gln2163Ter)
c.1717-9017C>T (n.1717-9017C>T)
c.6577C>T (p.Gln2193Ter)
c.4564C>T (p.Gln1522Ter)
c.4114C>T (p.Gln1372Ter)
c.3322C>T (p.Gln1108Ter)
8g.60853213A>CCA371325428CHD7c.6488A>C (p.Gln2163Pro)
c.1717-9016A>C (n.1717-9016A>C)
c.6578A>C (p.Gln2193Pro)
c.4565A>C (p.Gln1522Pro)
c.4115A>C (p.Gln1372Pro)
c.3323A>C (p.Gln1108Pro)
8g.60853213A>GCA371325433CHD7c.6488A>G (p.Gln2163Arg)
c.1717-9016A>G (n.1717-9016A>G)
c.6578A>G (p.Gln2193Arg)
c.4565A>G (p.Gln1522Arg)
c.4115A>G (p.Gln1372Arg)
c.3323A>G (p.Gln1108Arg)
8g.60853213A>TCA371325430CHD7c.6488A>T (p.Gln2163Leu)
c.1717-9016A>T (n.1717-9016A>T)
c.6578A>T (p.Gln2193Leu)
c.4565A>T (p.Gln1522Leu)
c.4115A>T (p.Gln1372Leu)
c.3323A>T (p.Gln1108Leu)
8g.60853214A>CCA371325435CHD7c.6489A>C (p.Gln2163His)
c.1717-9015A>C (n.1717-9015A>C)
c.6579A>C (p.Gln2193His)
c.4566A>C (p.Gln1522His)
c.4116A>C (p.Gln1372His)
c.3324A>C (p.Gln1108His)
8g.60853214A>GCA461105067CHD7c.6489A>G (p.Gln2163=)
c.1717-9015A>G (n.1717-9015A>G)
c.6579A>G (p.Gln2193=)
c.4566A>G (p.Gln1522=)
c.4116A>G (p.Gln1372=)
c.3324A>G (p.Gln1108=)
 gnomAD v4
8g.60853214A>TCA371325437CHD7c.6489A>T (p.Gln2163His)
c.1717-9015A>T (n.1717-9015A>T)
c.6579A>T (p.Gln2193His)
c.4566A>T (p.Gln1522His)
c.4116A>T (p.Gln1372His)
c.3324A>T (p.Gln1108His)
8g.60853215G>ACA371325439CHD7c.6490G>A (p.Asp2164Asn)
c.1717-9014G>A (n.1717-9014G>A)
c.6580G>A (p.Asp2194Asn)
c.4567G>A (p.Asp1523Asn)
c.4117G>A (p.Asp1373Asn)
c.3325G>A (p.Asp1109Asn)
8g.60853215G>CCA371325441CHD7c.6490G>C (p.Asp2164His)
c.1717-9014G>C (n.1717-9014G>C)
c.6580G>C (p.Asp2194His)
c.4567G>C (p.Asp1523His)
c.4117G>C (p.Asp1373His)
c.3325G>C (p.Asp1109His)
8g.60853215G>TCA371325442CHD7c.6490G>T (p.Asp2164Tyr)
c.1717-9014G>T (n.1717-9014G>T)
c.6580G>T (p.Asp2194Tyr)
c.4567G>T (p.Asp1523Tyr)
c.4117G>T (p.Asp1373Tyr)
c.3325G>T (p.Asp1109Tyr)
8g.60853216A>CCA371325444CHD7c.6491A>C (p.Asp2164Ala)
c.1717-9013A>C (n.1717-9013A>C)
c.6581A>C (p.Asp2194Ala)
c.4568A>C (p.Asp1523Ala)
c.4118A>C (p.Asp1373Ala)
c.3326A>C (p.Asp1109Ala)
8g.60853216A>GCA371325445CHD7c.6491A>G (p.Asp2164Gly)
c.1717-9013A>G (n.1717-9013A>G)
c.6581A>G (p.Asp2194Gly)
c.4568A>G (p.Asp1523Gly)
c.4118A>G (p.Asp1373Gly)
c.3326A>G (p.Asp1109Gly)
8g.60853216A>TCA371325447CHD7c.6491A>T (p.Asp2164Val)
c.1717-9013A>T (n.1717-9013A>T)
c.6581A>T (p.Asp2194Val)
c.4568A>T (p.Asp1523Val)
c.4118A>T (p.Asp1373Val)
c.3326A>T (p.Asp1109Val)
8g.60853217T>ACA371325451CHD7c.6492T>A (p.Asp2164Glu)
c.1717-9012T>A (n.1717-9012T>A)
c.6582T>A (p.Asp2194Glu)
c.4569T>A (p.Asp1523Glu)
c.4119T>A (p.Asp1373Glu)
c.3327T>A (p.Asp1109Glu)
 ClinVar dbSNP
8g.60853217T>CCA461105068CHD7c.6492T>C (p.Asp2164=)
c.1717-9012T>C (n.1717-9012T>C)
c.6582T>C (p.Asp2194=)
c.4569T>C (p.Asp1523=)
c.4119T>C (p.Asp1373=)
c.3327T>C (p.Asp1109=)
 dbSNP
8g.60853217T>GCA371325452CHD7c.6492T>G (p.Asp2164Glu)
c.1717-9012T>G (n.1717-9012T>G)
c.6582T>G (p.Asp2194Glu)
c.4569T>G (p.Asp1523Glu)
c.4119T>G (p.Asp1373Glu)
c.3327T>G (p.Asp1109Glu)
8g.60853217T=CA1788104188CHD7c.6492T= (p.Asp2164=)
c.1717-9012T= (n.1717-9012T=)
c.6582T= (p.Asp2194=)
c.4569T= (p.Asp1523=)
c.4119T= (p.Asp1373=)
c.3327T= (p.Asp1109=)
8g.60853217_60853218dupCA2695209426CHD7c.6492_6493dup (p.Glu2165ValfsTer?)
c.1717-9012_1717-9011dup (n.1717-9012_1717-9011dup)
c.6582_6583dup (p.Glu2195ValfsTer?)
c.4569_4570dup (p.Glu1524ValfsTer?)
c.4119_4120dup (p.Glu1374ValfsTer?)
c.3327_3328dup (p.Glu1110ValfsTer?)
8g.60853218G>ACA371325453CHD7c.6493G>A (p.Glu2165Lys)
c.1717-9011G>A (n.1717-9011G>A)
c.6583G>A (p.Glu2195Lys)
c.4570G>A (p.Glu1524Lys)
c.4120G>A (p.Glu1374Lys)
c.3328G>A (p.Glu1110Lys)
8g.60853218G>CCA371325454CHD7c.6493G>C (p.Glu2165Gln)
c.1717-9011G>C (n.1717-9011G>C)
c.6583G>C (p.Glu2195Gln)
c.4570G>C (p.Glu1524Gln)
c.4120G>C (p.Glu1374Gln)
c.3328G>C (p.Glu1110Gln)
8g.60853218G>TCA371325455CHD7c.6493G>T (p.Glu2165Ter)
c.1717-9011G>T (n.1717-9011G>T)
c.6583G>T (p.Glu2195Ter)
c.4570G>T (p.Glu1524Ter)
c.4120G>T (p.Glu1374Ter)
c.3328G>T (p.Glu1110Ter)
8g.60853219A=CA1788104196CHD7c.6494A= (p.Glu2165=)
c.1717-9010A= (n.1717-9010A=)
c.6584A= (p.Glu2195=)
c.4571A= (p.Glu1524=)
c.4121A= (p.Glu1374=)
c.3329A= (p.Glu1110=)
8g.60853219A>CCA371325461CHD7c.6494A>C (p.Glu2165Ala)
c.1717-9010A>C (n.1717-9010A>C)
c.6584A>C (p.Glu2195Ala)
c.4571A>C (p.Glu1524Ala)
c.4121A>C (p.Glu1374Ala)
c.3329A>C (p.Glu1110Ala)
8g.60853219A>GCA4760599CHD7c.6494A>G (p.Glu2165Gly)
c.1717-9010A>G (n.1717-9010A>G)
c.6584A>G (p.Glu2195Gly)
c.4571A>G (p.Glu1524Gly)
c.4121A>G (p.Glu1374Gly)
c.3329A>G (p.Glu1110Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853219A>TCA371325463CHD7c.6494A>T (p.Glu2165Val)
c.1717-9010A>T (n.1717-9010A>T)
c.6584A>T (p.Glu2195Val)
c.4571A>T (p.Glu1524Val)
c.4121A>T (p.Glu1374Val)
c.3329A>T (p.Glu1110Val)
8g.60853220G>ACA461105069CHD7c.6495G>A (p.Glu2165=)
c.1717-9009G>A (n.1717-9009G>A)
c.6585G>A (p.Glu2195=)
c.4572G>A (p.Glu1524=)
c.4122G>A (p.Glu1374=)
c.3330G>A (p.Glu1110=)
8g.60853220G>CCA371325465CHD7c.6495G>C (p.Glu2165Asp)
c.1717-9009G>C (n.1717-9009G>C)
c.6585G>C (p.Glu2195Asp)
c.4572G>C (p.Glu1524Asp)
c.4122G>C (p.Glu1374Asp)
c.3330G>C (p.Glu1110Asp)
8g.60853220G>TCA371325468CHD7c.6495G>T (p.Glu2165Asp)
c.1717-9009G>T (n.1717-9009G>T)
c.6585G>T (p.Glu2195Asp)
c.4572G>T (p.Glu1524Asp)
c.4122G>T (p.Glu1374Asp)
c.3330G>T (p.Glu1110Asp)
8g.60853221A>CCA461105070CHD7c.6496A>C (p.Arg2166=)
c.1717-9008A>C (n.1717-9008A>C)
c.6586A>C (p.Arg2196=)
c.4573A>C (p.Arg1525=)
c.4123A>C (p.Arg1375=)
c.3331A>C (p.Arg1111=)
8g.60853221A>GCA371325474CHD7c.6496A>G (p.Arg2166Gly)
c.1717-9008A>G (n.1717-9008A>G)
c.6586A>G (p.Arg2196Gly)
c.4573A>G (p.Arg1525Gly)
c.4123A>G (p.Arg1375Gly)
c.3331A>G (p.Arg1111Gly)
8g.60853221A>TCA371325475CHD7c.6496A>T (p.Arg2166Trp)
c.1717-9008A>T (n.1717-9008A>T)
c.6586A>T (p.Arg2196Trp)
c.4573A>T (p.Arg1525Trp)
c.4123A>T (p.Arg1375Trp)
c.3331A>T (p.Arg1111Trp)
8g.60853222G>ACA4760600CHD7c.6497G>A (p.Arg2166Lys)
c.1717-9007G>A (n.1717-9007G>A)
c.6587G>A (p.Arg2196Lys)
c.4574G>A (p.Arg1525Lys)
c.4124G>A (p.Arg1375Lys)
c.3332G>A (p.Arg1111Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853222G>CCA371325479CHD7c.6497G>C (p.Arg2166Thr)
c.1717-9007G>C (n.1717-9007G>C)
c.6587G>C (p.Arg2196Thr)
c.4574G>C (p.Arg1525Thr)
c.4124G>C (p.Arg1375Thr)
c.3332G>C (p.Arg1111Thr)
8g.60853222G=CA1788104203CHD7c.6497G= (p.Arg2166=)
c.1717-9007G= (n.1717-9007G=)
c.6587G= (p.Arg2196=)
c.4574G= (p.Arg1525=)
c.4124G= (p.Arg1375=)
c.3332G= (p.Arg1111=)
8g.60853222G>TCA371325482CHD7c.6497G>T (p.Arg2166Met)
c.1717-9007G>T (n.1717-9007G>T)
c.6587G>T (p.Arg2196Met)
c.4574G>T (p.Arg1525Met)
c.4124G>T (p.Arg1375Met)
c.3332G>T (p.Arg1111Met)
8g.60853223G>ACA461105071CHD7c.6498G>A (p.Arg2166=)
c.1717-9006G>A (n.1717-9006G>A)
c.6588G>A (p.Arg2196=)
c.4575G>A (p.Arg1525=)
c.4125G>A (p.Arg1375=)
c.3333G>A (p.Arg1111=)
8g.60853223G>CCA371325484CHD7c.6498G>C (p.Arg2166Ser)
c.1717-9006G>C (n.1717-9006G>C)
c.6588G>C (p.Arg2196Ser)
c.4575G>C (p.Arg1525Ser)
c.4125G>C (p.Arg1375Ser)
c.3333G>C (p.Arg1111Ser)
8g.60853223G>TCA371325486CHD7c.6498G>T (p.Arg2166Ser)
c.1717-9006G>T (n.1717-9006G>T)
c.6588G>T (p.Arg2196Ser)
c.4575G>T (p.Arg1525Ser)
c.4125G>T (p.Arg1375Ser)
c.3333G>T (p.Arg1111Ser)
 gnomAD v4
8g.60853224G>ACA177354136CHD7c.6499G>A (p.Val2167Ile)
c.1717-9005G>A (n.1717-9005G>A)
c.6589G>A (p.Val2197Ile)
c.4576G>A (p.Val1526Ile)
c.4126G>A (p.Val1376Ile)
c.3334G>A (p.Val1112Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.60853224G>CCA371325491CHD7c.6499G>C (p.Val2167Leu)
c.1717-9005G>C (n.1717-9005G>C)
c.6589G>C (p.Val2197Leu)
c.4576G>C (p.Val1526Leu)
c.4126G>C (p.Val1376Leu)
c.3334G>C (p.Val1112Leu)
8g.60853224G=CA1788104218CHD7c.6499G= (p.Val2167=)
c.1717-9005G= (n.1717-9005G=)
c.6589G= (p.Val2197=)
c.4576G= (p.Val1526=)
c.4126G= (p.Val1376=)
c.3334G= (p.Val1112=)
8g.60853224G>TCA371325489CHD7c.6499G>T (p.Val2167Leu)
c.1717-9005G>T (n.1717-9005G>T)
c.6589G>T (p.Val2197Leu)
c.4576G>T (p.Val1526Leu)
c.4126G>T (p.Val1376Leu)
c.3334G>T (p.Val1112Leu)
 dbSNP gnomAD v4
8g.60853225T>ACA371325496CHD7c.6500T>A (p.Val2167Glu)
c.1717-9004T>A (n.1717-9004T>A)
c.6590T>A (p.Val2197Glu)
c.4577T>A (p.Val1526Glu)
c.4127T>A (p.Val1376Glu)
c.3335T>A (p.Val1112Glu)
 dbSNP
8g.60853225T>CCA371325497CHD7c.6500T>C (p.Val2167Ala)
c.1717-9004T>C (n.1717-9004T>C)
c.6590T>C (p.Val2197Ala)
c.4577T>C (p.Val1526Ala)
c.4127T>C (p.Val1376Ala)
c.3335T>C (p.Val1112Ala)
8g.60853225T>GCA371325499CHD7c.6500T>G (p.Val2167Gly)
c.1717-9004T>G (n.1717-9004T>G)
c.6590T>G (p.Val2197Gly)
c.4577T>G (p.Val1526Gly)
c.4127T>G (p.Val1376Gly)
c.3335T>G (p.Val1112Gly)
 dbSNP
8g.60853225T=CA1788104223CHD7c.6500T= (p.Val2167=)
c.1717-9004T= (n.1717-9004T=)
c.6590T= (p.Val2197=)
c.4577T= (p.Val1526=)
c.4127T= (p.Val1376=)
c.3335T= (p.Val1112=)
8g.60853226A>CCA461105072CHD7c.6501A>C (p.Val2167=)
c.1717-9003A>C (n.1717-9003A>C)
c.6591A>C (p.Val2197=)
c.4578A>C (p.Val1526=)
c.4128A>C (p.Val1376=)
c.3336A>C (p.Val1112=)
8g.60853226A>GCA461105073CHD7c.6501A>G (p.Val2167=)
c.1717-9003A>G (n.1717-9003A>G)
c.6591A>G (p.Val2197=)
c.4578A>G (p.Val1526=)
c.4128A>G (p.Val1376=)
c.3336A>G (p.Val1112=)
8g.60853226A>TCA461105074CHD7c.6501A>T (p.Val2167=)
c.1717-9003A>T (n.1717-9003A>T)
c.6591A>T (p.Val2197=)
c.4578A>T (p.Val1526=)
c.4128A>T (p.Val1376=)
c.3336A>T (p.Val1112=)
8g.60853227delCA2695209427CHD7c.6502del (p.Leu2168TrpfsTer?)
c.1717-9002del (n.1717-9002del)
c.6592del (p.Leu2198TrpfsTer?)
c.4579del (p.Leu1527TrpfsTer?)
c.4129del (p.Leu1377TrpfsTer?)
c.3337del (p.Leu1113TrpfsTer?)
8g.60853227C>ACA371325501CHD7c.6502C>A (p.Leu2168Met)
c.1717-9002C>A (n.1717-9002C>A)
c.6592C>A (p.Leu2198Met)
c.4579C>A (p.Leu1527Met)
c.4129C>A (p.Leu1377Met)
c.3337C>A (p.Leu1113Met)
8g.60853227C=CA1788104224CHD7c.6502C= (p.Leu2168=)
c.1717-9002C= (n.1717-9002C=)
c.6592C= (p.Leu2198=)
c.4579C= (p.Leu1527=)
c.4129C= (p.Leu1377=)
c.3337C= (p.Leu1113=)
8g.60853227C>GCA371325503CHD7c.6502C>G (p.Leu2168Val)
c.1717-9002C>G (n.1717-9002C>G)
c.6592C>G (p.Leu2198Val)
c.4579C>G (p.Leu1527Val)
c.4129C>G (p.Leu1377Val)
c.3337C>G (p.Leu1113Val)
 dbSNP
8g.60853227C>TCA461105075CHD7c.6502C>T (p.Leu2168=)
c.1717-9002C>T (n.1717-9002C>T)
c.6592C>T (p.Leu2198=)
c.4579C>T (p.Leu1527=)
c.4129C>T (p.Leu1377=)
c.3337C>T (p.Leu1113=)
8g.60853228T>ACA371325504CHD7c.6503T>A (p.Leu2168Gln)
c.1717-9001T>A (n.1717-9001T>A)
c.6593T>A (p.Leu2198Gln)
c.4580T>A (p.Leu1527Gln)
c.4130T>A (p.Leu1377Gln)
c.3338T>A (p.Leu1113Gln)
8g.60853228T>CCA371325506CHD7c.6503T>C (p.Leu2168Pro)
c.1717-9001T>C (n.1717-9001T>C)
c.6593T>C (p.Leu2198Pro)
c.4580T>C (p.Leu1527Pro)
c.4130T>C (p.Leu1377Pro)
c.3338T>C (p.Leu1113Pro)
8g.60853228T>GCA371325507CHD7c.6503T>G (p.Leu2168Arg)
c.1717-9001T>G (n.1717-9001T>G)
c.6593T>G (p.Leu2198Arg)
c.4580T>G (p.Leu1527Arg)
c.4130T>G (p.Leu1377Arg)
c.3338T>G (p.Leu1113Arg)
 gnomAD v4
8g.60853229G>ACA461105076CHD7c.6504G>A (p.Leu2168=)
c.1717-9000G>A (n.1717-9000G>A)
c.6594G>A (p.Leu2198=)
c.4581G>A (p.Leu1527=)
c.4131G>A (p.Leu1377=)
c.3339G>A (p.Leu1113=)
8g.60853229G>CCA461105077CHD7c.6504G>C (p.Leu2168=)
c.1717-9000G>C (n.1717-9000G>C)
c.6594G>C (p.Leu2198=)
c.4581G>C (p.Leu1527=)
c.4131G>C (p.Leu1377=)
c.3339G>C (p.Leu1113=)
8g.60853229G>TCA461105078CHD7c.6504G>T (p.Leu2168=)
c.1717-9000G>T (n.1717-9000G>T)
c.6594G>T (p.Leu2198=)
c.4581G>T (p.Leu1527=)
c.4131G>T (p.Leu1377=)
c.3339G>T (p.Leu1113=)
8g.60853230G>ACA371325510CHD7c.6505G>A (p.Glu2169Lys)
c.1717-8999G>A (n.1717-8999G>A)
c.6595G>A (p.Glu2199Lys)
c.4582G>A (p.Glu1528Lys)
c.4132G>A (p.Glu1378Lys)
c.3340G>A (p.Glu1114Lys)
 dbSNP gnomAD v2
8g.60853230G>CCA371325513CHD7c.6505G>C (p.Glu2169Gln)
c.1717-8999G>C (n.1717-8999G>C)
c.6595G>C (p.Glu2199Gln)
c.4582G>C (p.Glu1528Gln)
c.4132G>C (p.Glu1378Gln)
c.3340G>C (p.Glu1114Gln)
8g.60853230G=CA1788104227CHD7c.6505G= (p.Glu2169=)
c.1717-8999G= (n.1717-8999G=)
c.6595G= (p.Glu2199=)
c.4582G= (p.Glu1528=)
c.4132G= (p.Glu1378=)
c.3340G= (p.Glu1114=)
8g.60853230G>TCA371325515CHD7c.6505G>T (p.Glu2169Ter)
c.1717-8999G>T (n.1717-8999G>T)
c.6595G>T (p.Glu2199Ter)
c.4582G>T (p.Glu1528Ter)
c.4132G>T (p.Glu1378Ter)
c.3340G>T (p.Glu1114Ter)
8g.60853231A>CCA371325521CHD7c.6506A>C (p.Glu2169Ala)
c.1717-8998A>C (n.1717-8998A>C)
c.6596A>C (p.Glu2199Ala)
c.4583A>C (p.Glu1528Ala)
c.4133A>C (p.Glu1378Ala)
c.3341A>C (p.Glu1114Ala)
8g.60853231A>GCA371325519CHD7c.6506A>G (p.Glu2169Gly)
c.1717-8998A>G (n.1717-8998A>G)
c.6596A>G (p.Glu2199Gly)
c.4583A>G (p.Glu1528Gly)
c.4133A>G (p.Glu1378Gly)
c.3341A>G (p.Glu1114Gly)
8g.60853231A>TCA371325517CHD7c.6506A>T (p.Glu2169Val)
c.1717-8998A>T (n.1717-8998A>T)
c.6596A>T (p.Glu2199Val)
c.4583A>T (p.Glu1528Val)
c.4133A>T (p.Glu1378Val)
c.3341A>T (p.Glu1114Val)
8g.60853232A>CCA371325523CHD7c.6507A>C (p.Glu2169Asp)
c.1717-8997A>C (n.1717-8997A>C)
c.6597A>C (p.Glu2199Asp)
c.4584A>C (p.Glu1528Asp)
c.4134A>C (p.Glu1378Asp)
c.3342A>C (p.Glu1114Asp)
8g.60853232A>GCA461105079CHD7c.6507A>G (p.Glu2169=)
c.1717-8997A>G (n.1717-8997A>G)
c.6597A>G (p.Glu2199=)
c.4584A>G (p.Glu1528=)
c.4134A>G (p.Glu1378=)
c.3342A>G (p.Glu1114=)
8g.60853232A>TCA371325524CHD7c.6507A>T (p.Glu2169Asp)
c.1717-8997A>T (n.1717-8997A>T)
c.6597A>T (p.Glu2199Asp)
c.4584A>T (p.Glu1528Asp)
c.4134A>T (p.Glu1378Asp)
c.3342A>T (p.Glu1114Asp)
8g.60853233C>ACA4760601CHD7c.6508C>A (p.Gln2170Lys)
c.1717-8996C>A (n.1717-8996C>A)
c.6598C>A (p.Gln2200Lys)
c.4585C>A (p.Gln1529Lys)
c.4135C>A (p.Gln1379Lys)
c.3343C>A (p.Gln1115Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853233C=CA1788104238CHD7c.6508C= (p.Gln2170=)
c.1717-8996C= (n.1717-8996C=)
c.6598C= (p.Gln2200=)
c.4585C= (p.Gln1529=)
c.4135C= (p.Gln1379=)
c.3343C= (p.Gln1115=)
8g.60853233C>GCA371325527CHD7c.6508C>G (p.Gln2170Glu)
c.1717-8996C>G (n.1717-8996C>G)
c.6598C>G (p.Gln2200Glu)
c.4585C>G (p.Gln1529Glu)
c.4135C>G (p.Gln1379Glu)
c.3343C>G (p.Gln1115Glu)
8g.60853233C>TCA371325529CHD7c.6508C>T (p.Gln2170Ter)
c.1717-8996C>T (n.1717-8996C>T)
c.6598C>T (p.Gln2200Ter)
c.4585C>T (p.Gln1529Ter)
c.4135C>T (p.Gln1379Ter)
c.3343C>T (p.Gln1115Ter)
8g.60853234A>CCA371325532CHD7c.6509A>C (p.Gln2170Pro)
c.1717-8995A>C (n.1717-8995A>C)
c.6599A>C (p.Gln2200Pro)
c.4586A>C (p.Gln1529Pro)
c.4136A>C (p.Gln1379Pro)
c.3344A>C (p.Gln1115Pro)
8g.60853234A>GCA371325533CHD7c.6509A>G (p.Gln2170Arg)
c.1717-8995A>G (n.1717-8995A>G)
c.6599A>G (p.Gln2200Arg)
c.4586A>G (p.Gln1529Arg)
c.4136A>G (p.Gln1379Arg)
c.3344A>G (p.Gln1115Arg)
8g.60853234A>TCA371325535CHD7c.6509A>T (p.Gln2170Leu)
c.1717-8995A>T (n.1717-8995A>T)
c.6599A>T (p.Gln2200Leu)
c.4586A>T (p.Gln1529Leu)
c.4136A>T (p.Gln1379Leu)
c.3344A>T (p.Gln1115Leu)
8g.60853235A>CCA371325537CHD7c.6510A>C (p.Gln2170His)
c.1717-8994A>C (n.1717-8994A>C)
c.6600A>C (p.Gln2200His)
c.4587A>C (p.Gln1529His)
c.4137A>C (p.Gln1379His)
c.3345A>C (p.Gln1115His)
8g.60853235A>GCA461105081CHD7c.6510A>G (p.Gln2170=)
c.1717-8994A>G (n.1717-8994A>G)
c.6600A>G (p.Gln2200=)
c.4587A>G (p.Gln1529=)
c.4137A>G (p.Gln1379=)
c.3345A>G (p.Gln1115=)
8g.60853235A>TCA371325539CHD7c.6510A>T (p.Gln2170His)
c.1717-8994A>T (n.1717-8994A>T)
c.6600A>T (p.Gln2200His)
c.4587A>T (p.Gln1529His)
c.4137A>T (p.Gln1379His)
c.3345A>T (p.Gln1115His)
8g.60853236G>ACA371325540CHD7c.6511G>A (p.Ala2171Thr)
c.1717-8993G>A (n.1717-8993G>A)
c.6601G>A (p.Ala2201Thr)
c.4588G>A (p.Ala1530Thr)
c.4138G>A (p.Ala1380Thr)
c.3346G>A (p.Ala1116Thr)
 dbSNP
8g.60853236G>CCA371325541CHD7c.6511G>C (p.Ala2171Pro)
c.1717-8993G>C (n.1717-8993G>C)
c.6601G>C (p.Ala2201Pro)
c.4588G>C (p.Ala1530Pro)
c.4138G>C (p.Ala1380Pro)
c.3346G>C (p.Ala1116Pro)
8g.60853236G>TCA371325542CHD7c.6511G>T (p.Ala2171Ser)
c.1717-8993G>T (n.1717-8993G>T)
c.6601G>T (p.Ala2201Ser)
c.4588G>T (p.Ala1530Ser)
c.4138G>T (p.Ala1380Ser)
c.3346G>T (p.Ala1116Ser)
8g.60853237C>ACA371325544CHD7c.6512C>A (p.Ala2171Asp)
c.1717-8992C>A (n.1717-8992C>A)
c.6602C>A (p.Ala2201Asp)
c.4589C>A (p.Ala1530Asp)
c.4139C>A (p.Ala1380Asp)
c.3347C>A (p.Ala1116Asp)
8g.60853237C>GCA371325546CHD7c.6512C>G (p.Ala2171Gly)
c.1717-8992C>G (n.1717-8992C>G)
c.6602C>G (p.Ala2201Gly)
c.4589C>G (p.Ala1530Gly)
c.4139C>G (p.Ala1380Gly)
c.3347C>G (p.Ala1116Gly)
8g.60853237C>TCA371325543CHD7c.6512C>T (p.Ala2171Val)
c.1717-8992C>T (n.1717-8992C>T)
c.6602C>T (p.Ala2201Val)
c.4589C>T (p.Ala1530Val)
c.4139C>T (p.Ala1380Val)
c.3347C>T (p.Ala1116Val)
 gnomAD v4
8g.60853238C>ACA177354140CHD7c.6513C>A (p.Ala2171=)
c.1717-8991C>A (n.1717-8991C>A)
c.6603C>A (p.Ala2201=)
c.4590C>A (p.Ala1530=)
c.4140C>A (p.Ala1380=)
c.3348C>A (p.Ala1116=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853238C=CA1788104247CHD7c.6513C= (p.Ala2171=)
c.1717-8991C= (n.1717-8991C=)
c.6603C= (p.Ala2201=)
c.4590C= (p.Ala1530=)
c.4140C= (p.Ala1380=)
c.3348C= (p.Ala1116=)
8g.60853238C>GCA461105086CHD7c.6513C>G (p.Ala2171=)
c.1717-8991C>G (n.1717-8991C>G)
c.6603C>G (p.Ala2201=)
c.4590C>G (p.Ala1530=)
c.4140C>G (p.Ala1380=)
c.3348C>G (p.Ala1116=)
8g.60853238C>TCA223315CHD7c.6513C>T (p.Ala2171=)
c.1717-8991C>T (n.1717-8991C>T)
c.6603C>T (p.Ala2201=)
c.4590C>T (p.Ala1530=)
c.4140C>T (p.Ala1380=)
c.3348C>T (p.Ala1116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853239G>ACA4760602CHD7c.6514G>A (p.Glu2172Lys)
c.1717-8990G>A (n.1717-8990G>A)
c.6604G>A (p.Glu2202Lys)
c.4591G>A (p.Glu1531Lys)
c.4141G>A (p.Glu1381Lys)
c.3349G>A (p.Glu1117Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853239G>CCA371325549CHD7c.6514G>C (p.Glu2172Gln)
c.1717-8990G>C (n.1717-8990G>C)
c.6604G>C (p.Glu2202Gln)
c.4591G>C (p.Glu1531Gln)
c.4141G>C (p.Glu1381Gln)
c.3349G>C (p.Glu1117Gln)
8g.60853239G=CA1788104258CHD7c.6514G= (p.Glu2172=)
c.1717-8990G= (n.1717-8990G=)
c.6604G= (p.Glu2202=)
c.4591G= (p.Glu1531=)
c.4141G= (p.Glu1381=)
c.3349G= (p.Glu1117=)
8g.60853239G>TCA371325550CHD7c.6514G>T (p.Glu2172Ter)
c.1717-8990G>T (n.1717-8990G>T)
c.6604G>T (p.Glu2202Ter)
c.4591G>T (p.Glu1531Ter)
c.4141G>T (p.Glu1381Ter)
c.3349G>T (p.Glu1117Ter)
 ClinVar dbSNP
8g.60853240A>CCA371325552CHD7c.6515A>C (p.Glu2172Ala)
c.1717-8989A>C (n.1717-8989A>C)
c.6605A>C (p.Glu2202Ala)
c.4592A>C (p.Glu1531Ala)
c.4142A>C (p.Glu1381Ala)
c.3350A>C (p.Glu1117Ala)
8g.60853240A>GCA371325554CHD7c.6515A>G (p.Glu2172Gly)
c.1717-8989A>G (n.1717-8989A>G)
c.6605A>G (p.Glu2202Gly)
c.4592A>G (p.Glu1531Gly)
c.4142A>G (p.Glu1381Gly)
c.3350A>G (p.Glu1117Gly)
8g.60853240A>TCA371325555CHD7c.6515A>T (p.Glu2172Val)
c.1717-8989A>T (n.1717-8989A>T)
c.6605A>T (p.Glu2202Val)
c.4592A>T (p.Glu1531Val)
c.4142A>T (p.Glu1381Val)
c.3350A>T (p.Glu1117Val)
8g.60853241A>CCA371325558CHD7c.6516A>C (p.Glu2172Asp)
c.1717-8988A>C (n.1717-8988A>C)
c.6606A>C (p.Glu2202Asp)
c.4593A>C (p.Glu1531Asp)
c.4143A>C (p.Glu1381Asp)
c.3351A>C (p.Glu1117Asp)
8g.60853241A>GCA461105088CHD7c.6516A>G (p.Glu2172=)
c.1717-8988A>G (n.1717-8988A>G)
c.6606A>G (p.Glu2202=)
c.4593A>G (p.Glu1531=)
c.4143A>G (p.Glu1381=)
c.3351A>G (p.Glu1117=)
8g.60853241A>TCA371325557CHD7c.6516A>T (p.Glu2172Asp)
c.1717-8988A>T (n.1717-8988A>T)
c.6606A>T (p.Glu2202Asp)
c.4593A>T (p.Glu1531Asp)
c.4143A>T (p.Glu1381Asp)
c.3351A>T (p.Glu1117Asp)
8g.60853242G>ACA371325561CHD7c.6517G>A (p.Gly2173Ser)
c.1717-8987G>A (n.1717-8987G>A)
c.6607G>A (p.Gly2203Ser)
c.4594G>A (p.Gly1532Ser)
c.4144G>A (p.Gly1382Ser)
c.3352G>A (p.Gly1118Ser)
8g.60853242G>CCA371325562CHD7c.6517G>C (p.Gly2173Arg)
c.1717-8987G>C (n.1717-8987G>C)
c.6607G>C (p.Gly2203Arg)
c.4594G>C (p.Gly1532Arg)
c.4144G>C (p.Gly1382Arg)
c.3352G>C (p.Gly1118Arg)
8g.60853242G>TCA371325564CHD7c.6517G>T (p.Gly2173Cys)
c.1717-8987G>T (n.1717-8987G>T)
c.6607G>T (p.Gly2203Cys)
c.4594G>T (p.Gly1532Cys)
c.4144G>T (p.Gly1382Cys)
c.3352G>T (p.Gly1118Cys)
8g.60853243G>ACA371325565CHD7c.6518G>A (p.Gly2173Asp)
c.1717-8986G>A (n.1717-8986G>A)
c.6608G>A (p.Gly2203Asp)
c.4595G>A (p.Gly1532Asp)
c.4145G>A (p.Gly1382Asp)
c.3353G>A (p.Gly1118Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.60853243G>CCA371325566CHD7c.6518G>C (p.Gly2173Ala)
c.1717-8986G>C (n.1717-8986G>C)
c.6608G>C (p.Gly2203Ala)
c.4595G>C (p.Gly1532Ala)
c.4145G>C (p.Gly1382Ala)
c.3353G>C (p.Gly1118Ala)
8g.60853243G=CA1788104264CHD7c.6518G= (p.Gly2173=)
c.1717-8986G= (n.1717-8986G=)
c.6608G= (p.Gly2203=)
c.4595G= (p.Gly1532=)
c.4145G= (p.Gly1382=)
c.3353G= (p.Gly1118=)
8g.60853243G>TCA371325568CHD7c.6518G>T (p.Gly2173Val)
c.1717-8986G>T (n.1717-8986G>T)
c.6608G>T (p.Gly2203Val)
c.4595G>T (p.Gly1532Val)
c.4145G>T (p.Gly1382Val)
c.3353G>T (p.Gly1118Val)
8g.60853244C>ACA461105092CHD7c.6519C>A (p.Gly2173=)
c.1717-8985C>A (n.1717-8985C>A)
c.6609C>A (p.Gly2203=)
c.4596C>A (p.Gly1532=)
c.4146C>A (p.Gly1382=)
c.3354C>A (p.Gly1118=)
8g.60853244C>GCA461105093CHD7c.6519C>G (p.Gly2173=)
c.1717-8985C>G (n.1717-8985C>G)
c.6609C>G (p.Gly2203=)
c.4596C>G (p.Gly1532=)
c.4146C>G (p.Gly1382=)
c.3354C>G (p.Gly1118=)
8g.60853244C>TCA461105094CHD7c.6519C>T (p.Gly2173=)
c.1717-8985C>T (n.1717-8985C>T)
c.6609C>T (p.Gly2203=)
c.4596C>T (p.Gly1532=)
c.4146C>T (p.Gly1382=)
c.3354C>T (p.Gly1118=)
8g.60853245A>CCA371325570CHD7c.6520A>C (p.Lys2174Gln)
c.1717-8984A>C (n.1717-8984A>C)
c.6610A>C (p.Lys2204Gln)
c.4597A>C (p.Lys1533Gln)
c.4147A>C (p.Lys1383Gln)
c.3355A>C (p.Lys1119Gln)
8g.60853245A>GCA371325573CHD7c.6520A>G (p.Lys2174Glu)
c.1717-8984A>G (n.1717-8984A>G)
c.6610A>G (p.Lys2204Glu)
c.4597A>G (p.Lys1533Glu)
c.4147A>G (p.Lys1383Glu)
c.3355A>G (p.Lys1119Glu)
8g.60853245A>TCA371325572CHD7c.6520A>T (p.Lys2174Ter)
c.1717-8984A>T (n.1717-8984A>T)
c.6610A>T (p.Lys2204Ter)
c.4597A>T (p.Lys1533Ter)
c.4147A>T (p.Lys1383Ter)
c.3355A>T (p.Lys1119Ter)
8g.60853246A=CA1788104271CHD7c.6521A= (p.Lys2174=)
c.1717-8983A= (n.1717-8983A=)
c.6611A= (p.Lys2204=)
c.4598A= (p.Lys1533=)
c.4148A= (p.Lys1383=)
c.3356A= (p.Lys1119=)
8g.60853246A>CCA371325574CHD7c.6521A>C (p.Lys2174Thr)
c.1717-8983A>C (n.1717-8983A>C)
c.6611A>C (p.Lys2204Thr)
c.4598A>C (p.Lys1533Thr)
c.4148A>C (p.Lys1383Thr)
c.3356A>C (p.Lys1119Thr)
 gnomAD v4
8g.60853246A>GCA371325576CHD7c.6521A>G (p.Lys2174Arg)
c.1717-8983A>G (n.1717-8983A>G)
c.6611A>G (p.Lys2204Arg)
c.4598A>G (p.Lys1533Arg)
c.4148A>G (p.Lys1383Arg)
c.3356A>G (p.Lys1119Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853246A>TCA371325577CHD7c.6521A>T (p.Lys2174Ile)
c.1717-8983A>T (n.1717-8983A>T)
c.6611A>T (p.Lys2204Ile)
c.4598A>T (p.Lys1533Ile)
c.4148A>T (p.Lys1383Ile)
c.3356A>T (p.Lys1119Ile)
8g.60853246_60853250delCA2580078863CHD7c.6521_6525del (p.Lys2174ArgfsTer4)
c.1717-8983_1717-8979del (n.1717-8983_1717-8979del)
c.6611_6615del (p.Lys2204ArgfsTer4)
c.4598_4602del (p.Lys1533ArgfsTer4)
c.4148_4152del (p.Lys1383ArgfsTer4)
c.3356_3360del (p.Lys1119ArgfsTer4)
 ClinVar
8g.60853247A=CA1788104276CHD7c.6522A= (p.Lys2174=)
c.1717-8982A= (n.1717-8982A=)
c.6612A= (p.Lys2204=)
c.4599A= (p.Lys1533=)
c.4149A= (p.Lys1383=)
c.3357A= (p.Lys1119=)
8g.60853247A>CCA371325583CHD7c.6522A>C (p.Lys2174Asn)
c.1717-8982A>C (n.1717-8982A>C)
c.6612A>C (p.Lys2204Asn)
c.4599A>C (p.Lys1533Asn)
c.4149A>C (p.Lys1383Asn)
c.3357A>C (p.Lys1119Asn)
8g.60853247A>GCA461105099CHD7c.6522A>G (p.Lys2174=)
c.1717-8982A>G (n.1717-8982A>G)
c.6612A>G (p.Lys2204=)
c.4599A>G (p.Lys1533=)
c.4149A>G (p.Lys1383=)
c.3357A>G (p.Lys1119=)
 gnomAD v4
8g.60853247A>TCA4760603CHD7c.6522A>T (p.Lys2174Asn)
c.1717-8982A>T (n.1717-8982A>T)
c.6612A>T (p.Lys2204Asn)
c.4599A>T (p.Lys1533Asn)
c.4149A>T (p.Lys1383Asn)
c.3357A>T (p.Lys1119Asn)
 dbSNP ExAC gnomAD v2
8g.60853248G>ACA371325588CHD7c.6523G>A (p.Val2175Met)
c.1717-8981G>A (n.1717-8981G>A)
c.6613G>A (p.Val2205Met)
c.4600G>A (p.Val1534Met)
c.4150G>A (p.Val1384Met)
c.3358G>A (p.Val1120Met)
 dbSNP gnomAD v4
8g.60853248G>CCA371325589CHD7c.6523G>C (p.Val2175Leu)
c.1717-8981G>C (n.1717-8981G>C)
c.6613G>C (p.Val2205Leu)
c.4600G>C (p.Val1534Leu)
c.4150G>C (p.Val1384Leu)
c.3358G>C (p.Val1120Leu)
8g.60853248G=CA1788104293CHD7c.6523G= (p.Val2175=)
c.1717-8981G= (n.1717-8981G=)
c.6613G= (p.Val2205=)
c.4600G= (p.Val1534=)
c.4150G= (p.Val1384=)
c.3358G= (p.Val1120=)
8g.60853248G>TCA371325590CHD7c.6523G>T (p.Val2175Leu)
c.1717-8981G>T (n.1717-8981G>T)
c.6613G>T (p.Val2205Leu)
c.4600G>T (p.Val1534Leu)
c.4150G>T (p.Val1384Leu)
c.3358G>T (p.Val1120Leu)
8g.60853249T>ACA371325592CHD7c.6524T>A (p.Val2175Glu)
c.1717-8980T>A (n.1717-8980T>A)
c.6614T>A (p.Val2205Glu)
c.4601T>A (p.Val1534Glu)
c.4151T>A (p.Val1384Glu)
c.3359T>A (p.Val1120Glu)
8g.60853249T>CCA371325593CHD7c.6524T>C (p.Val2175Ala)
c.1717-8980T>C (n.1717-8980T>C)
c.6614T>C (p.Val2205Ala)
c.4601T>C (p.Val1534Ala)
c.4151T>C (p.Val1384Ala)
c.3359T>C (p.Val1120Ala)
8g.60853249T>GCA371325595CHD7c.6524T>G (p.Val2175Gly)
c.1717-8980T>G (n.1717-8980T>G)
c.6614T>G (p.Val2205Gly)
c.4601T>G (p.Val1534Gly)
c.4151T>G (p.Val1384Gly)
c.3359T>G (p.Val1120Gly)
 dbSNP
8g.60853249T=CA1788104302CHD7c.6524T= (p.Val2175=)
c.1717-8980T= (n.1717-8980T=)
c.6614T= (p.Val2205=)
c.4601T= (p.Val1534=)
c.4151T= (p.Val1384=)
c.3359T= (p.Val1120=)
8g.60853249_60853250delinsTGCA1788104299CHD7c.6524_6525delinsTG (p.Val2175=)
c.1717-8980_1717-8979delinsTG (n.1717-8980_1717-8979delinsTG)
c.6614_6615delinsTG (p.Val2205=)
c.4601_4602delinsTG (p.Val1534=)
c.4151_4152delinsTG (p.Val1384=)
c.3359_3360delinsTG (p.Val1120=)
8g.60853250G>ACA461105105CHD7c.6525G>A (p.Val2175=)
c.1717-8979G>A (n.1717-8979G>A)
c.6615G>A (p.Val2205=)
c.4602G>A (p.Val1534=)
c.4152G>A (p.Val1384=)
c.3360G>A (p.Val1120=)
8g.60853250G>CCA461105104CHD7c.6525G>C (p.Val2175=)
c.1717-8979G>C (n.1717-8979G>C)
c.6615G>C (p.Val2205=)
c.4602G>C (p.Val1534=)
c.4152G>C (p.Val1384=)
c.3360G>C (p.Val1120=)
8g.60853250G>TCA461105103CHD7c.6525G>T (p.Val2175=)
c.1717-8979G>T (n.1717-8979G>T)
c.6615G>T (p.Val2205=)
c.4602G>T (p.Val1534=)
c.4152G>T (p.Val1384=)
c.3360G>T (p.Val1120=)
8g.60853251delCA277453CHD7c.6526del (p.Glu2176ArgfsTer?)
c.1717-8978del (n.1717-8978del)
c.6616del (p.Glu2206ArgfsTer?)
c.4603del (p.Glu1535ArgfsTer?)
c.4153del (p.Glu1385ArgfsTer?)
c.3361del (p.Glu1121ArgfsTer?)
 ClinVar dbSNP
8g.60853251G>ACA371325598CHD7c.6526G>A (p.Glu2176Lys)
c.1717-8978G>A (n.1717-8978G>A)
c.6616G>A (p.Glu2206Lys)
c.4603G>A (p.Glu1535Lys)
c.4153G>A (p.Glu1385Lys)
c.3361G>A (p.Glu1121Lys)
 dbSNP gnomAD v2
8g.60853251G>CCA371325597CHD7c.6526G>C (p.Glu2176Gln)
c.1717-8978G>C (n.1717-8978G>C)
c.6616G>C (p.Glu2206Gln)
c.4603G>C (p.Glu1535Gln)
c.4153G>C (p.Glu1385Gln)
c.3361G>C (p.Glu1121Gln)
8g.60853251G=CA1788104322CHD7c.6526G= (p.Glu2176=)
c.1717-8978G= (n.1717-8978G=)
c.6616G= (p.Glu2206=)
c.4603G= (p.Glu1535=)
c.4153G= (p.Glu1385=)
c.3361G= (p.Glu1121=)
8g.60853251G>TCA371325601CHD7c.6526G>T (p.Glu2176Ter)
c.1717-8978G>T (n.1717-8978G>T)
c.6616G>T (p.Glu2206Ter)
c.4603G>T (p.Glu1535Ter)
c.4153G>T (p.Glu1385Ter)
c.3361G>T (p.Glu1121Ter)
8g.60853252A>CCA371325602CHD7c.6527A>C (p.Glu2176Ala)
c.1717-8977A>C (n.1717-8977A>C)
c.6617A>C (p.Glu2206Ala)
c.4604A>C (p.Glu1535Ala)
c.4154A>C (p.Glu1385Ala)
c.3362A>C (p.Glu1121Ala)
8g.60853252A>GCA371325604CHD7c.6527A>G (p.Glu2176Gly)
c.1717-8977A>G (n.1717-8977A>G)
c.6617A>G (p.Glu2206Gly)
c.4604A>G (p.Glu1535Gly)
c.4154A>G (p.Glu1385Gly)
c.3362A>G (p.Glu1121Gly)
 gnomAD v4
8g.60853252A>TCA371325606CHD7c.6527A>T (p.Glu2176Val)
c.1717-8977A>T (n.1717-8977A>T)
c.6617A>T (p.Glu2206Val)
c.4604A>T (p.Glu1535Val)
c.4154A>T (p.Glu1385Val)
c.3362A>T (p.Glu1121Val)
8g.60853253G>ACA461105109CHD7c.6528G>A (p.Glu2176=)
c.1717-8976G>A (n.1717-8976G>A)
c.6618G>A (p.Glu2206=)
c.4605G>A (p.Glu1535=)
c.4155G>A (p.Glu1385=)
c.3363G>A (p.Glu1121=)
8g.60853253G>CCA371325607CHD7c.6528G>C (p.Glu2176Asp)
c.1717-8976G>C (n.1717-8976G>C)
c.6618G>C (p.Glu2206Asp)
c.4605G>C (p.Glu1535Asp)
c.4155G>C (p.Glu1385Asp)
c.3363G>C (p.Glu1121Asp)
8g.60853253G>TCA371325609CHD7c.6528G>T (p.Glu2176Asp)
c.1717-8976G>T (n.1717-8976G>T)
c.6618G>T (p.Glu2206Asp)
c.4605G>T (p.Glu1535Asp)
c.4155G>T (p.Glu1385Asp)
c.3363G>T (p.Glu1121Asp)
8g.60853254G>ACA4760604CHD7c.6529G>A (p.Glu2177Lys)
c.1717-8975G>A (n.1717-8975G>A)
c.6619G>A (p.Glu2207Lys)
c.4606G>A (p.Glu1536Lys)
c.4156G>A (p.Glu1386Lys)
c.3364G>A (p.Glu1122Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853254G>CCA371325613CHD7c.6529G>C (p.Glu2177Gln)
c.1717-8975G>C (n.1717-8975G>C)
c.6619G>C (p.Glu2207Gln)
c.4606G>C (p.Glu1536Gln)
c.4156G>C (p.Glu1386Gln)
c.3364G>C (p.Glu1122Gln)
8g.60853254G=CA1788104332CHD7c.6529G= (p.Glu2177=)
c.1717-8975G= (n.1717-8975G=)
c.6619G= (p.Glu2207=)
c.4606G= (p.Glu1536=)
c.4156G= (p.Glu1386=)
c.3364G= (p.Glu1122=)
8g.60853254G>TCA275208CHD7c.6529G>T (p.Glu2177Ter)
c.1717-8975G>T (n.1717-8975G>T)
c.6619G>T (p.Glu2207Ter)
c.4606G>T (p.Glu1536Ter)
c.4156G>T (p.Glu1386Ter)
c.3364G>T (p.Glu1122Ter)
 ClinVar dbSNP
8g.60853255A>CCA371325617CHD7c.6530A>C (p.Glu2177Ala)
c.1717-8974A>C (n.1717-8974A>C)
c.6620A>C (p.Glu2207Ala)
c.4607A>C (p.Glu1536Ala)
c.4157A>C (p.Glu1386Ala)
c.3365A>C (p.Glu1122Ala)
8g.60853255A>GCA371325619CHD7c.6530A>G (p.Glu2177Gly)
c.1717-8974A>G (n.1717-8974A>G)
c.6620A>G (p.Glu2207Gly)
c.4607A>G (p.Glu1536Gly)
c.4157A>G (p.Glu1386Gly)
c.3365A>G (p.Glu1122Gly)
8g.60853255A>TCA371325620CHD7c.6530A>T (p.Glu2177Val)
c.1717-8974A>T (n.1717-8974A>T)
c.6620A>T (p.Glu2207Val)
c.4607A>T (p.Glu1536Val)
c.4157A>T (p.Glu1386Val)
c.3365A>T (p.Glu1122Val)
8g.60853256G>ACA461105111CHD7c.6531G>A (p.Glu2177=)
c.1717-8973G>A (n.1717-8973G>A)
c.6621G>A (p.Glu2207=)
c.4608G>A (p.Glu1536=)
c.4158G>A (p.Glu1386=)
c.3366G>A (p.Glu1122=)
 ClinVar
8g.60853256G>CCA371325621CHD7c.6531G>C (p.Glu2177Asp)
c.1717-8973G>C (n.1717-8973G>C)
c.6621G>C (p.Glu2207Asp)
c.4608G>C (p.Glu1536Asp)
c.4158G>C (p.Glu1386Asp)
c.3366G>C (p.Glu1122Asp)
 gnomAD v4
8g.60853256G>TCA371325622CHD7c.6531G>T (p.Glu2177Asp)
c.1717-8973G>T (n.1717-8973G>T)
c.6621G>T (p.Glu2207Asp)
c.4608G>T (p.Glu1536Asp)
c.4158G>T (p.Glu1386Asp)
c.3366G>T (p.Glu1122Asp)
8g.60853256dupCA2573143274CHD7c.6531dup (p.Pro2178AlafsTer2)
c.1717-8973dup (n.1717-8973dup)
c.6621dup (p.Pro2208AlafsTer2)
c.4608dup (p.Pro1537AlafsTer2)
c.4158dup (p.Pro1387AlafsTer2)
c.3366dup (p.Pro1123AlafsTer2)
 ClinVar dbSNP
8g.60853257C>ACA371325625CHD7c.6532C>A (p.Pro2178Thr)
c.1717-8972C>A (n.1717-8972C>A)
c.6622C>A (p.Pro2208Thr)
c.4609C>A (p.Pro1537Thr)
c.4159C>A (p.Pro1387Thr)
c.3367C>A (p.Pro1123Thr)
8g.60853257C>GCA371325627CHD7c.6532C>G (p.Pro2178Ala)
c.1717-8972C>G (n.1717-8972C>G)
c.6622C>G (p.Pro2208Ala)
c.4609C>G (p.Pro1537Ala)
c.4159C>G (p.Pro1387Ala)
c.3367C>G (p.Pro1123Ala)
8g.60853257C>TCA371325626CHD7c.6532C>T (p.Pro2178Ser)
c.1717-8972C>T (n.1717-8972C>T)
c.6622C>T (p.Pro2208Ser)
c.4609C>T (p.Pro1537Ser)
c.4159C>T (p.Pro1387Ser)
c.3367C>T (p.Pro1123Ser)
 dbSNP
8g.60853258C>ACA371325629CHD7c.6533C>A (p.Pro2178His)
c.1717-8971C>A (n.1717-8971C>A)
c.6623C>A (p.Pro2208His)
c.4610C>A (p.Pro1537His)
c.4160C>A (p.Pro1387His)
c.3368C>A (p.Pro1123His)
8g.60853258C=CA1788104342CHD7c.6533C= (p.Pro2178=)
c.1717-8971C= (n.1717-8971C=)
c.6623C= (p.Pro2208=)
c.4610C= (p.Pro1537=)
c.4160C= (p.Pro1387=)
c.3368C= (p.Pro1123=)
8g.60853258C>GCA371325630CHD7c.6533C>G (p.Pro2178Arg)
c.1717-8971C>G (n.1717-8971C>G)
c.6623C>G (p.Pro2208Arg)
c.4610C>G (p.Pro1537Arg)
c.4160C>G (p.Pro1387Arg)
c.3368C>G (p.Pro1123Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.60853258C>TCA371325631CHD7c.6533C>T (p.Pro2178Leu)
c.1717-8971C>T (n.1717-8971C>T)
c.6623C>T (p.Pro2208Leu)
c.4610C>T (p.Pro1537Leu)
c.4160C>T (p.Pro1387Leu)
c.3368C>T (p.Pro1123Leu)
8g.60853259T>ACA461105114CHD7c.6534T>A (p.Pro2178=)
c.1717-8970T>A (n.1717-8970T>A)
c.6624T>A (p.Pro2208=)
c.4611T>A (p.Pro1537=)
c.4161T>A (p.Pro1387=)
c.3369T>A (p.Pro1123=)
8g.60853259T>CCA177354148CHD7c.6534T>C (p.Pro2178=)
c.1717-8970T>C (n.1717-8970T>C)
c.6624T>C (p.Pro2208=)
c.4611T>C (p.Pro1537=)
c.4161T>C (p.Pro1387=)
c.3369T>C (p.Pro1123=)
 dbSNP gnomAD v4
8g.60853259T>GCA461105116CHD7c.6534T>G (p.Pro2178=)
c.1717-8970T>G (n.1717-8970T>G)
c.6624T>G (p.Pro2208=)
c.4611T>G (p.Pro1537=)
c.4161T>G (p.Pro1387=)
c.3369T>G (p.Pro1123=)
8g.60853259T=CA1788104348CHD7c.6534T= (p.Pro2178=)
c.1717-8970T= (n.1717-8970T=)
c.6624T= (p.Pro2208=)
c.4611T= (p.Pro1537=)
c.4161T= (p.Pro1387=)
c.3369T= (p.Pro1123=)
8g.60853260G>ACA371325634CHD7c.6535G>A (p.Glu2179Lys)
c.1717-8969G>A (n.1717-8969G>A)
c.6625G>A (p.Glu2209Lys)
c.4612G>A (p.Glu1538Lys)
c.4162G>A (p.Glu1388Lys)
c.3370G>A (p.Glu1124Lys)
8g.60853260G>CCA371325635CHD7c.6535G>C (p.Glu2179Gln)
c.1717-8969G>C (n.1717-8969G>C)
c.6625G>C (p.Glu2209Gln)
c.4612G>C (p.Glu1538Gln)
c.4162G>C (p.Glu1388Gln)
c.3370G>C (p.Glu1124Gln)
8g.60853260G>TCA371325636CHD7c.6535G>T (p.Glu2179Ter)
c.1717-8969G>T (n.1717-8969G>T)
c.6625G>T (p.Glu2209Ter)
c.4612G>T (p.Glu1538Ter)
c.4162G>T (p.Glu1388Ter)
c.3370G>T (p.Glu1124Ter)
8g.60853261A=CA1788104357CHD7c.6536A= (p.Glu2179=)
c.1717-8968A= (n.1717-8968A=)
c.6626A= (p.Glu2209=)
c.4613A= (p.Glu1538=)
c.4163A= (p.Glu1388=)
c.3371A= (p.Glu1124=)
8g.60853261A>CCA371325638CHD7c.6536A>C (p.Glu2179Ala)
c.1717-8968A>C (n.1717-8968A>C)
c.6626A>C (p.Glu2209Ala)
c.4613A>C (p.Glu1538Ala)
c.4163A>C (p.Glu1388Ala)
c.3371A>C (p.Glu1124Ala)
8g.60853261A>GCA371325639CHD7c.6536A>G (p.Glu2179Gly)
c.1717-8968A>G (n.1717-8968A>G)
c.6626A>G (p.Glu2209Gly)
c.4613A>G (p.Glu1538Gly)
c.4163A>G (p.Glu1388Gly)
c.3371A>G (p.Glu1124Gly)
 ClinVar dbSNP
8g.60853261A>TCA371325640CHD7c.6536A>T (p.Glu2179Val)
c.1717-8968A>T (n.1717-8968A>T)
c.6626A>T (p.Glu2209Val)
c.4613A>T (p.Glu1538Val)
c.4163A>T (p.Glu1388Val)
c.3371A>T (p.Glu1124Val)
8g.60853262A>CCA371325641CHD7c.6537A>C (p.Glu2179Asp)
c.1717-8967A>C (n.1717-8967A>C)
c.6627A>C (p.Glu2209Asp)
c.4614A>C (p.Glu1538Asp)
c.4164A>C (p.Glu1388Asp)
c.3372A>C (p.Glu1124Asp)
8g.60853262A>GCA461105122CHD7c.6537A>G (p.Glu2179=)
c.1717-8967A>G (n.1717-8967A>G)
c.6627A>G (p.Glu2209=)
c.4614A>G (p.Glu1538=)
c.4164A>G (p.Glu1388=)
c.3372A>G (p.Glu1124=)
8g.60853262A>TCA371325642CHD7c.6537A>T (p.Glu2179Asp)
c.1717-8967A>T (n.1717-8967A>T)
c.6627A>T (p.Glu2209Asp)
c.4614A>T (p.Glu1538Asp)
c.4164A>T (p.Glu1388Asp)
c.3372A>T (p.Glu1124Asp)
8g.60853263A>CCA371325645CHD7c.6538A>C (p.Asn2180His)
c.1717-8966A>C (n.1717-8966A>C)
c.6628A>C (p.Asn2210His)
c.4615A>C (p.Asn1539His)
c.4165A>C (p.Asn1389His)
c.3373A>C (p.Asn1125His)
8g.60853263A>GCA371325646CHD7c.6538A>G (p.Asn2180Asp)
c.1717-8966A>G (n.1717-8966A>G)
c.6628A>G (p.Asn2210Asp)
c.4615A>G (p.Asn1539Asp)
c.4165A>G (p.Asn1389Asp)
c.3373A>G (p.Asn1125Asp)
8g.60853263A>TCA371325643CHD7c.6538A>T (p.Asn2180Tyr)
c.1717-8966A>T (n.1717-8966A>T)
c.6628A>T (p.Asn2210Tyr)
c.4615A>T (p.Asn1539Tyr)
c.4165A>T (p.Asn1389Tyr)
c.3373A>T (p.Asn1125Tyr)
8g.60853264A=CA1788104367CHD7c.6539A= (p.Asn2180=)
c.1717-8965A= (n.1717-8965A=)
c.6629A= (p.Asn2210=)
c.4616A= (p.Asn1539=)
c.4166A= (p.Asn1389=)
c.3374A= (p.Asn1125=)
8g.60853264A>CCA371325650CHD7c.6539A>C (p.Asn2180Thr)
c.1717-8965A>C (n.1717-8965A>C)
c.6629A>C (p.Asn2210Thr)
c.4616A>C (p.Asn1539Thr)
c.4166A>C (p.Asn1389Thr)
c.3374A>C (p.Asn1125Thr)
 dbSNP
8g.60853264A>GCA371325648CHD7c.6539A>G (p.Asn2180Ser)
c.1717-8965A>G (n.1717-8965A>G)
c.6629A>G (p.Asn2210Ser)
c.4616A>G (p.Asn1539Ser)
c.4166A>G (p.Asn1389Ser)
c.3374A>G (p.Asn1125Ser)
 gnomAD v4
8g.60853264A>TCA371325652CHD7c.6539A>T (p.Asn2180Ile)
c.1717-8965A>T (n.1717-8965A>T)
c.6629A>T (p.Asn2210Ile)
c.4616A>T (p.Asn1539Ile)
c.4166A>T (p.Asn1389Ile)
c.3374A>T (p.Asn1125Ile)
8g.60853265C>ACA371325653CHD7c.6540C>A (p.Asn2180Lys)
c.1717-8964C>A (n.1717-8964C>A)
c.6630C>A (p.Asn2210Lys)
c.4617C>A (p.Asn1539Lys)
c.4167C>A (p.Asn1389Lys)
c.3375C>A (p.Asn1125Lys)
8g.60853265C>GCA371325655CHD7c.6540C>G (p.Asn2180Lys)
c.1717-8964C>G (n.1717-8964C>G)
c.6630C>G (p.Asn2210Lys)
c.4617C>G (p.Asn1539Lys)
c.4167C>G (p.Asn1389Lys)
c.3375C>G (p.Asn1125Lys)
8g.60853265C>TCA461105125CHD7c.6540C>T (p.Asn2180=)
c.1717-8964C>T (n.1717-8964C>T)
c.6630C>T (p.Asn2210=)
c.4617C>T (p.Asn1539=)
c.4167C>T (p.Asn1389=)
c.3375C>T (p.Asn1125=)
8g.60853266C>ACA371325657CHD7c.6541C>A (p.Pro2181Thr)
c.1717-8963C>A (n.1717-8963C>A)
c.6631C>A (p.Pro2211Thr)
c.4618C>A (p.Pro1540Thr)
c.4168C>A (p.Pro1390Thr)
c.3376C>A (p.Pro1126Thr)
8g.60853266C=CA1788104389CHD7c.6541C= (p.Pro2181=)
c.1717-8963C= (n.1717-8963C=)
c.6631C= (p.Pro2211=)
c.4618C= (p.Pro1540=)
c.4168C= (p.Pro1390=)
c.3376C= (p.Pro1126=)
8g.60853266C>GCA371325659CHD7c.6541C>G (p.Pro2181Ala)
c.1717-8963C>G (n.1717-8963C>G)
c.6631C>G (p.Pro2211Ala)
c.4618C>G (p.Pro1540Ala)
c.4168C>G (p.Pro1390Ala)
c.3376C>G (p.Pro1126Ala)
8g.60853266C>TCA371325660CHD7c.6541C>T (p.Pro2181Ser)
c.1717-8963C>T (n.1717-8963C>T)
c.6631C>T (p.Pro2211Ser)
c.4618C>T (p.Pro1540Ser)
c.4168C>T (p.Pro1390Ser)
c.3376C>T (p.Pro1126Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853267C>ACA371325661CHD7c.6542C>A (p.Pro2181Gln)
c.1717-8962C>A (n.1717-8962C>A)
c.6632C>A (p.Pro2211Gln)
c.4619C>A (p.Pro1540Gln)
c.4169C>A (p.Pro1390Gln)
c.3377C>A (p.Pro1126Gln)
8g.60853267C>GCA371325662CHD7c.6542C>G (p.Pro2181Arg)
c.1717-8962C>G (n.1717-8962C>G)
c.6632C>G (p.Pro2211Arg)
c.4619C>G (p.Pro1540Arg)
c.4169C>G (p.Pro1390Arg)
c.3377C>G (p.Pro1126Arg)
8g.60853267C>TCA371325664CHD7c.6542C>T (p.Pro2181Leu)
c.1717-8962C>T (n.1717-8962C>T)
c.6632C>T (p.Pro2211Leu)
c.4619C>T (p.Pro1540Leu)
c.4169C>T (p.Pro1390Leu)
c.3377C>T (p.Pro1126Leu)
 gnomAD v4
8g.60853268A>CCA461105130CHD7c.6543A>C (p.Pro2181=)
c.1717-8961A>C (n.1717-8961A>C)
c.6633A>C (p.Pro2211=)
c.4620A>C (p.Pro1540=)
c.4170A>C (p.Pro1390=)
c.3378A>C (p.Pro1126=)
8g.60853268A>GCA461105131CHD7c.6543A>G (p.Pro2181=)
c.1717-8961A>G (n.1717-8961A>G)
c.6633A>G (p.Pro2211=)
c.4620A>G (p.Pro1540=)
c.4170A>G (p.Pro1390=)
c.3378A>G (p.Pro1126=)
8g.60853268A>TCA461105132CHD7c.6543A>T (p.Pro2181=)
c.1717-8961A>T (n.1717-8961A>T)
c.6633A>T (p.Pro2211=)
c.4620A>T (p.Pro1540=)
c.4170A>T (p.Pro1390=)
c.3378A>T (p.Pro1126=)
8g.60853269G>ACA371325667CHD7c.6544G>A (p.Ala2182Thr)
c.1717-8960G>A (n.1717-8960G>A)
c.6634G>A (p.Ala2212Thr)
c.4621G>A (p.Ala1541Thr)
c.4171G>A (p.Ala1391Thr)
c.3379G>A (p.Ala1127Thr)
8g.60853269G>CCA371325668CHD7c.6544G>C (p.Ala2182Pro)
c.1717-8960G>C (n.1717-8960G>C)
c.6634G>C (p.Ala2212Pro)
c.4621G>C (p.Ala1541Pro)
c.4171G>C (p.Ala1391Pro)
c.3379G>C (p.Ala1127Pro)
8g.60853269G>TCA371325669CHD7c.6544G>T (p.Ala2182Ser)
c.1717-8960G>T (n.1717-8960G>T)
c.6634G>T (p.Ala2212Ser)
c.4621G>T (p.Ala1541Ser)
c.4171G>T (p.Ala1391Ser)
c.3379G>T (p.Ala1127Ser)
8g.60853270C>ACA371325671CHD7c.6545C>A (p.Ala2182Asp)
c.1717-8959C>A (n.1717-8959C>A)
c.6635C>A (p.Ala2212Asp)
c.4622C>A (p.Ala1541Asp)
c.4172C>A (p.Ala1391Asp)
c.3380C>A (p.Ala1127Asp)
 dbSNP gnomAD v2
8g.60853270C=CA1788104390CHD7c.6545C= (p.Ala2182=)
c.1717-8959C= (n.1717-8959C=)
c.6635C= (p.Ala2212=)
c.4622C= (p.Ala1541=)
c.4172C= (p.Ala1391=)
c.3380C= (p.Ala1127=)
8g.60853270C>GCA371325673CHD7c.6545C>G (p.Ala2182Gly)
c.1717-8959C>G (n.1717-8959C>G)
c.6635C>G (p.Ala2212Gly)
c.4622C>G (p.Ala1541Gly)
c.4172C>G (p.Ala1391Gly)
c.3380C>G (p.Ala1127Gly)
 gnomAD v4
8g.60853270C>TCA371325674CHD7c.6545C>T (p.Ala2182Val)
c.1717-8959C>T (n.1717-8959C>T)
c.6635C>T (p.Ala2212Val)
c.4622C>T (p.Ala1541Val)
c.4172C>T (p.Ala1391Val)
c.3380C>T (p.Ala1127Val)
8g.60853271T>ACA461105136CHD7c.6546T>A (p.Ala2182=)
c.1717-8958T>A (n.1717-8958T>A)
c.6636T>A (p.Ala2212=)
c.4623T>A (p.Ala1541=)
c.4173T>A (p.Ala1391=)
c.3381T>A (p.Ala1127=)
8g.60853271T>CCA461105137CHD7c.6546T>C (p.Ala2182=)
c.1717-8958T>C (n.1717-8958T>C)
c.6636T>C (p.Ala2212=)
c.4623T>C (p.Ala1541=)
c.4173T>C (p.Ala1391=)
c.3381T>C (p.Ala1127=)
8g.60853271T>GCA461105138CHD7c.6546T>G (p.Ala2182=)
c.1717-8958T>G (n.1717-8958T>G)
c.6636T>G (p.Ala2212=)
c.4623T>G (p.Ala1541=)
c.4173T>G (p.Ala1391=)
c.3381T>G (p.Ala1127=)
8g.60853272G>ACA371325679CHD7c.6547G>A (p.Ala2183Thr)
c.1717-8957G>A (n.1717-8957G>A)
c.6637G>A (p.Ala2213Thr)
c.4624G>A (p.Ala1542Thr)
c.4174G>A (p.Ala1392Thr)
c.3382G>A (p.Ala1128Thr)
 gnomAD v4
8g.60853272G>CCA371325676CHD7c.6547G>C (p.Ala2183Pro)
c.1717-8957G>C (n.1717-8957G>C)
c.6637G>C (p.Ala2213Pro)
c.4624G>C (p.Ala1542Pro)
c.4174G>C (p.Ala1392Pro)
c.3382G>C (p.Ala1128Pro)
8g.60853272G>TCA371325677CHD7c.6547G>T (p.Ala2183Ser)
c.1717-8957G>T (n.1717-8957G>T)
c.6637G>T (p.Ala2213Ser)
c.4624G>T (p.Ala1542Ser)
c.4174G>T (p.Ala1392Ser)
c.3382G>T (p.Ala1128Ser)
8g.60853273C>ACA371325683CHD7c.6548C>A (p.Ala2183Asp)
c.1717-8956C>A (n.1717-8956C>A)
c.6638C>A (p.Ala2213Asp)
c.4625C>A (p.Ala1542Asp)
c.4175C>A (p.Ala1392Asp)
c.3383C>A (p.Ala1128Asp)
8g.60853273C=CA1788104395CHD7c.6548C= (p.Ala2183=)
c.1717-8956C= (n.1717-8956C=)
c.6638C= (p.Ala2213=)
c.4625C= (p.Ala1542=)
c.4175C= (p.Ala1392=)
c.3383C= (p.Ala1128=)
8g.60853273C>GCA371325685CHD7c.6548C>G (p.Ala2183Gly)
c.1717-8956C>G (n.1717-8956C>G)
c.6638C>G (p.Ala2213Gly)
c.4625C>G (p.Ala1542Gly)
c.4175C>G (p.Ala1392Gly)
c.3383C>G (p.Ala1128Gly)
8g.60853273C>TCA4760605CHD7c.6548C>T (p.Ala2183Val)
c.1717-8956C>T (n.1717-8956C>T)
c.6638C>T (p.Ala2213Val)
c.4625C>T (p.Ala1542Val)
c.4175C>T (p.Ala1392Val)
c.3383C>T (p.Ala1128Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853274C>ACA461105140CHD7c.6549C>A (p.Ala2183=)
c.1717-8955C>A (n.1717-8955C>A)
c.6639C>A (p.Ala2213=)
c.4626C>A (p.Ala1542=)
c.4176C>A (p.Ala1392=)
c.3384C>A (p.Ala1128=)
 dbSNP gnomAD v2
8g.60853274C=CA1788104403CHD7c.6549C= (p.Ala2183=)
c.1717-8955C= (n.1717-8955C=)
c.6639C= (p.Ala2213=)
c.4626C= (p.Ala1542=)
c.4176C= (p.Ala1392=)
c.3384C= (p.Ala1128=)
8g.60853274C>GCA461105142CHD7c.6549C>G (p.Ala2183=)
c.1717-8955C>G (n.1717-8955C>G)
c.6639C>G (p.Ala2213=)
c.4626C>G (p.Ala1542=)
c.4176C>G (p.Ala1392=)
c.3384C>G (p.Ala1128=)
8g.60853274C>TCA461105143CHD7c.6549C>T (p.Ala2183=)
c.1717-8955C>T (n.1717-8955C>T)
c.6639C>T (p.Ala2213=)
c.4626C>T (p.Ala1542=)
c.4176C>T (p.Ala1392=)
c.3384C>T (p.Ala1128=)
 gnomAD v4
8g.60853275A>CCA371325687CHD7c.6550A>C (p.Lys2184Gln)
c.1717-8954A>C (n.1717-8954A>C)
c.6640A>C (p.Lys2214Gln)
c.4627A>C (p.Lys1543Gln)
c.4177A>C (p.Lys1393Gln)
c.3385A>C (p.Lys1129Gln)
8g.60853275A>GCA371325688CHD7c.6550A>G (p.Lys2184Glu)
c.1717-8954A>G (n.1717-8954A>G)
c.6640A>G (p.Lys2214Glu)
c.4627A>G (p.Lys1543Glu)
c.4177A>G (p.Lys1393Glu)
c.3385A>G (p.Lys1129Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.60853275A>TCA371325690CHD7c.6550A>T (p.Lys2184Ter)
c.1717-8954A>T (n.1717-8954A>T)
c.6640A>T (p.Lys2214Ter)
c.4627A>T (p.Lys1543Ter)
c.4177A>T (p.Lys1393Ter)
c.3385A>T (p.Lys1129Ter)
8g.60853276A=CA1788104408CHD7c.6551A= (p.Lys2184=)
c.1717-8953A= (n.1717-8953A=)
c.6641A= (p.Lys2214=)
c.4628A= (p.Lys1543=)
c.4178A= (p.Lys1393=)
c.3386A= (p.Lys1129=)
8g.60853276A>CCA371325692CHD7c.6551A>C (p.Lys2184Thr)
c.1717-8953A>C (n.1717-8953A>C)
c.6641A>C (p.Lys2214Thr)
c.4628A>C (p.Lys1543Thr)
c.4178A>C (p.Lys1393Thr)
c.3386A>C (p.Lys1129Thr)
8g.60853276A>GCA371325693CHD7c.6551A>G (p.Lys2184Arg)
c.1717-8953A>G (n.1717-8953A>G)
c.6641A>G (p.Lys2214Arg)
c.4628A>G (p.Lys1543Arg)
c.4178A>G (p.Lys1393Arg)
c.3386A>G (p.Lys1129Arg)
8g.60853276A>TCA177354151CHD7c.6551A>T (p.Lys2184Met)
c.1717-8953A>T (n.1717-8953A>T)
c.6641A>T (p.Lys2214Met)
c.4628A>T (p.Lys1543Met)
c.4178A>T (p.Lys1393Met)
c.3386A>T (p.Lys1129Met)
 ClinVar dbSNP gnomAD v4
8g.60853277G>ACA461105147CHD7c.6552G>A (p.Lys2184=)
c.1717-8952G>A (n.1717-8952G>A)
c.6642G>A (p.Lys2214=)
c.4629G>A (p.Lys1543=)
c.4179G>A (p.Lys1393=)
c.3387G>A (p.Lys1129=)
 dbSNP
8g.60853277G>CCA371325694CHD7c.6552G>C (p.Lys2184Asn)
c.1717-8952G>C (n.1717-8952G>C)
c.6642G>C (p.Lys2214Asn)
c.4629G>C (p.Lys1543Asn)
c.4179G>C (p.Lys1393Asn)
c.3387G>C (p.Lys1129Asn)
8g.60853277G=CA1788104413CHD7c.6552G= (p.Lys2184=)
c.1717-8952G= (n.1717-8952G=)
c.6642G= (p.Lys2214=)
c.4629G= (p.Lys1543=)
c.4179G= (p.Lys1393=)
c.3387G= (p.Lys1129=)
8g.60853277G>TCA371325696CHD7c.6552G>T (p.Lys2184Asn)
c.1717-8952G>T (n.1717-8952G>T)
c.6642G>T (p.Lys2214Asn)
c.4629G>T (p.Lys1543Asn)
c.4179G>T (p.Lys1393Asn)
c.3387G>T (p.Lys1129Asn)
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)

Number of alleles fetched