Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853118delCA2695209419CHD7c.6393del (p.Phe2131LeufsTer13)
c.1717-9111del (n.1717-9111del)
c.6483del (p.Phe2161LeufsTer13)
c.4470del (p.Phe1490LeufsTer13)
c.4020del (p.Phe1340LeufsTer13)
c.3228del (p.Phe1076LeufsTer13)
8g.60853118T>ACA371325024CHD7c.6393T>A (p.Phe2131Leu)
c.1717-9111T>A (n.1717-9111T>A)
c.6483T>A (p.Phe2161Leu)
c.4470T>A (p.Phe1490Leu)
c.4020T>A (p.Phe1340Leu)
c.3228T>A (p.Phe1076Leu)
8g.60853118T>CCA461105348CHD7c.6393T>C (p.Phe2131=)
c.1717-9111T>C (n.1717-9111T>C)
c.6483T>C (p.Phe2161=)
c.4470T>C (p.Phe1490=)
c.4020T>C (p.Phe1340=)
c.3228T>C (p.Phe1076=)
 ClinVar dbSNP
8g.60853118T>GCA371325025CHD7c.6393T>G (p.Phe2131Leu)
c.1717-9111T>G (n.1717-9111T>G)
c.6483T>G (p.Phe2161Leu)
c.4470T>G (p.Phe1490Leu)
c.4020T>G (p.Phe1340Leu)
c.3228T>G (p.Phe1076Leu)
8g.60853119G>ACA371325026CHD7c.6394G>A (p.Ala2132Thr)
c.1717-9110G>A (n.1717-9110G>A)
c.6484G>A (p.Ala2162Thr)
c.4471G>A (p.Ala1491Thr)
c.4021G>A (p.Ala1341Thr)
c.3229G>A (p.Ala1077Thr)
 ClinVar gnomAD v4
8g.60853119G>CCA371325027CHD7c.6394G>C (p.Ala2132Pro)
c.1717-9110G>C (n.1717-9110G>C)
c.6484G>C (p.Ala2162Pro)
c.4471G>C (p.Ala1491Pro)
c.4021G>C (p.Ala1341Pro)
c.3229G>C (p.Ala1077Pro)
8g.60853119G>TCA371325028CHD7c.6394G>T (p.Ala2132Ser)
c.1717-9110G>T (n.1717-9110G>T)
c.6484G>T (p.Ala2162Ser)
c.4471G>T (p.Ala1491Ser)
c.4021G>T (p.Ala1341Ser)
c.3229G>T (p.Ala1077Ser)
8g.60853120C>ACA4760584CHD7c.6395C>A (p.Ala2132Asp)
c.1717-9109C>A (n.1717-9109C>A)
c.6485C>A (p.Ala2162Asp)
c.4472C>A (p.Ala1491Asp)
c.4022C>A (p.Ala1341Asp)
c.3230C>A (p.Ala1077Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853120C=CA1788103727CHD7c.6395C= (p.Ala2132=)
c.1717-9109C= (n.1717-9109C=)
c.6485C= (p.Ala2162=)
c.4472C= (p.Ala1491=)
c.4022C= (p.Ala1341=)
c.3230C= (p.Ala1077=)
8g.60853120C>GCA371325029CHD7c.6395C>G (p.Ala2132Gly)
c.1717-9109C>G (n.1717-9109C>G)
c.6485C>G (p.Ala2162Gly)
c.4472C>G (p.Ala1491Gly)
c.4022C>G (p.Ala1341Gly)
c.3230C>G (p.Ala1077Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.60853120C>TCA371325030CHD7c.6395C>T (p.Ala2132Val)
c.1717-9109C>T (n.1717-9109C>T)
c.6485C>T (p.Ala2162Val)
c.4472C>T (p.Ala1491Val)
c.4022C>T (p.Ala1341Val)
c.3230C>T (p.Ala1077Val)
8g.60853121T>ACA461105352CHD7c.6396T>A (p.Ala2132=)
c.1717-9108T>A (n.1717-9108T>A)
c.6486T>A (p.Ala2162=)
c.4473T>A (p.Ala1491=)
c.4023T>A (p.Ala1341=)
c.3231T>A (p.Ala1077=)
8g.60853121T>CCA4760585CHD7c.6396T>C (p.Ala2132=)
c.1717-9108T>C (n.1717-9108T>C)
c.6486T>C (p.Ala2162=)
c.4473T>C (p.Ala1491=)
c.4023T>C (p.Ala1341=)
c.3231T>C (p.Ala1077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853121T>GCA461105353CHD7c.6396T>G (p.Ala2132=)
c.1717-9108T>G (n.1717-9108T>G)
c.6486T>G (p.Ala2162=)
c.4473T>G (p.Ala1491=)
c.4023T>G (p.Ala1341=)
c.3231T>G (p.Ala1077=)
8g.60853121T=CA1788103732CHD7c.6396T= (p.Ala2132=)
c.1717-9108T= (n.1717-9108T=)
c.6486T= (p.Ala2162=)
c.4473T= (p.Ala1491=)
c.4023T= (p.Ala1341=)
c.3231T= (p.Ala1077=)
8g.60853122C>ACA371325033CHD7c.6397C>A (p.Gln2133Lys)
c.1717-9107C>A (n.1717-9107C>A)
c.6487C>A (p.Gln2163Lys)
c.4474C>A (p.Gln1492Lys)
c.4024C>A (p.Gln1342Lys)
c.3232C>A (p.Gln1078Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60853122C=CA1788103734CHD7c.6397C= (p.Gln2133=)
c.1717-9107C= (n.1717-9107C=)
c.6487C= (p.Gln2163=)
c.4474C= (p.Gln1492=)
c.4024C= (p.Gln1342=)
c.3232C= (p.Gln1078=)
8g.60853122C>GCA371325036CHD7c.6397C>G (p.Gln2133Glu)
c.1717-9107C>G (n.1717-9107C>G)
c.6487C>G (p.Gln2163Glu)
c.4474C>G (p.Gln1492Glu)
c.4024C>G (p.Gln1342Glu)
c.3232C>G (p.Gln1078Glu)
 gnomAD v4
8g.60853122C>TCA371325037CHD7c.6397C>T (p.Gln2133Ter)
c.1717-9107C>T (n.1717-9107C>T)
c.6487C>T (p.Gln2163Ter)
c.4474C>T (p.Gln1492Ter)
c.4024C>T (p.Gln1342Ter)
c.3232C>T (p.Gln1078Ter)
8g.60853122_60853123delinsCACA1788103736CHD7c.6397_6398delinsCA (p.Gln2133=)
c.1717-9107_1717-9106delinsCA (n.1717-9107_1717-9106delinsCA)
c.6487_6488delinsCA (p.Gln2163=)
c.4474_4475delinsCA (p.Gln1492=)
c.4024_4025delinsCA (p.Gln1342=)
c.3232_3233delinsCA (p.Gln1078=)
8g.60853123A>CCA371325039CHD7c.6398A>C (p.Gln2133Pro)
c.1717-9106A>C (n.1717-9106A>C)
c.6488A>C (p.Gln2163Pro)
c.4475A>C (p.Gln1492Pro)
c.4025A>C (p.Gln1342Pro)
c.3233A>C (p.Gln1078Pro)
8g.60853123A>GCA371325042CHD7c.6398A>G (p.Gln2133Arg)
c.1717-9106A>G (n.1717-9106A>G)
c.6488A>G (p.Gln2163Arg)
c.4475A>G (p.Gln1492Arg)
c.4025A>G (p.Gln1342Arg)
c.3233A>G (p.Gln1078Arg)
8g.60853123A>TCA371325045CHD7c.6398A>T (p.Gln2133Leu)
c.1717-9106A>T (n.1717-9106A>T)
c.6488A>T (p.Gln2163Leu)
c.4475A>T (p.Gln1492Leu)
c.4025A>T (p.Gln1342Leu)
c.3233A>T (p.Gln1078Leu)
8g.60853126delCA915945720CHD7c.6401del (p.Asn2134ThrfsTer10)
c.1717-9103del (n.1717-9103del)
c.6491del (p.Asn2164ThrfsTer10)
c.4478del (p.Asn1493ThrfsTer10)
c.4028del (p.Asn1343ThrfsTer10)
c.3236del (p.Asn1079ThrfsTer10)
 ClinVar dbSNP
8g.60853124A>CCA371325046CHD7c.6399A>C (p.Gln2133His)
c.1717-9105A>C (n.1717-9105A>C)
c.6489A>C (p.Gln2163His)
c.4476A>C (p.Gln1492His)
c.4026A>C (p.Gln1342His)
c.3234A>C (p.Gln1078His)
8g.60853124A>GCA461105357CHD7c.6399A>G (p.Gln2133=)
c.1717-9105A>G (n.1717-9105A>G)
c.6489A>G (p.Gln2163=)
c.4476A>G (p.Gln1492=)
c.4026A>G (p.Gln1342=)
c.3234A>G (p.Gln1078=)
 ClinVar gnomAD v4
8g.60853124A>TCA371325049CHD7c.6399A>T (p.Gln2133His)
c.1717-9105A>T (n.1717-9105A>T)
c.6489A>T (p.Gln2163His)
c.4476A>T (p.Gln1492His)
c.4026A>T (p.Gln1342His)
c.3234A>T (p.Gln1078His)
8g.60853125A>CCA371325052CHD7c.6400A>C (p.Asn2134His)
c.1717-9104A>C (n.1717-9104A>C)
c.6490A>C (p.Asn2164His)
c.4477A>C (p.Asn1493His)
c.4027A>C (p.Asn1343His)
c.3235A>C (p.Asn1079His)
8g.60853125A>GCA371325053CHD7c.6400A>G (p.Asn2134Asp)
c.1717-9104A>G (n.1717-9104A>G)
c.6490A>G (p.Asn2164Asp)
c.4477A>G (p.Asn1493Asp)
c.4027A>G (p.Asn1343Asp)
c.3235A>G (p.Asn1079Asp)
8g.60853125A>TCA371325055CHD7c.6400A>T (p.Asn2134Tyr)
c.1717-9104A>T (n.1717-9104A>T)
c.6490A>T (p.Asn2164Tyr)
c.4477A>T (p.Asn1493Tyr)
c.4027A>T (p.Asn1343Tyr)
c.3235A>T (p.Asn1079Tyr)
8g.60853126A=CA1788103749CHD7c.6401A= (p.Asn2134=)
c.1717-9103A= (n.1717-9103A=)
c.6491A= (p.Asn2164=)
c.4478A= (p.Asn1493=)
c.4028A= (p.Asn1343=)
c.3236A= (p.Asn1079=)
8g.60853126A>CCA371325058CHD7c.6401A>C (p.Asn2134Thr)
c.1717-9103A>C (n.1717-9103A>C)
c.6491A>C (p.Asn2164Thr)
c.4478A>C (p.Asn1493Thr)
c.4028A>C (p.Asn1343Thr)
c.3236A>C (p.Asn1079Thr)
8g.60853126A>GCA4760586CHD7c.6401A>G (p.Asn2134Ser)
c.1717-9103A>G (n.1717-9103A>G)
c.6491A>G (p.Asn2164Ser)
c.4478A>G (p.Asn1493Ser)
c.4028A>G (p.Asn1343Ser)
c.3236A>G (p.Asn1079Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853126A>TCA371325057CHD7c.6401A>T (p.Asn2134Ile)
c.1717-9103A>T (n.1717-9103A>T)
c.6491A>T (p.Asn2164Ile)
c.4478A>T (p.Asn1493Ile)
c.4028A>T (p.Asn1343Ile)
c.3236A>T (p.Asn1079Ile)
8g.60853127C>ACA371325061CHD7c.6402C>A (p.Asn2134Lys)
c.1717-9102C>A (n.1717-9102C>A)
c.6492C>A (p.Asn2164Lys)
c.4479C>A (p.Asn1493Lys)
c.4029C>A (p.Asn1343Lys)
c.3237C>A (p.Asn1079Lys)
8g.60853127C=CA1788103778CHD7c.6402C= (p.Asn2134=)
c.1717-9102C= (n.1717-9102C=)
c.6492C= (p.Asn2164=)
c.4479C= (p.Asn1493=)
c.4029C= (p.Asn1343=)
c.3237C= (p.Asn1079=)
8g.60853127C>GCA371325062CHD7c.6402C>G (p.Asn2134Lys)
c.1717-9102C>G (n.1717-9102C>G)
c.6492C>G (p.Asn2164Lys)
c.4479C>G (p.Asn1493Lys)
c.4029C>G (p.Asn1343Lys)
c.3237C>G (p.Asn1079Lys)
8g.60853127C>TCA461105361CHD7c.6402C>T (p.Asn2134=)
c.1717-9102C>T (n.1717-9102C>T)
c.6492C>T (p.Asn2164=)
c.4479C>T (p.Asn1493=)
c.4029C>T (p.Asn1343=)
c.3237C>T (p.Asn1079=)
 dbSNP
8g.60853128A>CCA461105362CHD7c.6403A>C (p.Arg2135=)
c.1717-9101A>C (n.1717-9101A>C)
c.6493A>C (p.Arg2165=)
c.4480A>C (p.Arg1494=)
c.4030A>C (p.Arg1344=)
c.3238A>C (p.Arg1080=)
8g.60853128A>GCA371325063CHD7c.6403A>G (p.Arg2135Gly)
c.1717-9101A>G (n.1717-9101A>G)
c.6493A>G (p.Arg2165Gly)
c.4480A>G (p.Arg1494Gly)
c.4030A>G (p.Arg1344Gly)
c.3238A>G (p.Arg1080Gly)
 COSMIC
8g.60853128A>TCA371325064CHD7c.6403A>T (p.Arg2135Ter)
c.1717-9101A>T (n.1717-9101A>T)
c.6493A>T (p.Arg2165Ter)
c.4480A>T (p.Arg1494Ter)
c.4030A>T (p.Arg1344Ter)
c.3238A>T (p.Arg1080Ter)
8g.60853130_60853131delCA2695209422CHD7c.6405_6406del (p.Ala2137ArgfsTer2)
c.1717-9099_1717-9098del (n.1717-9099_1717-9098del)
c.6495_6496del (p.Ala2167ArgfsTer2)
c.4482_4483del (p.Ala1496ArgfsTer2)
c.4032_4033del (p.Ala1346ArgfsTer2)
c.3240_3241del (p.Ala1082ArgfsTer2)
8g.60853129G>ACA371325065CHD7c.6404G>A (p.Arg2135Lys)
c.1717-9100G>A (n.1717-9100G>A)
c.6494G>A (p.Arg2165Lys)
c.4481G>A (p.Arg1494Lys)
c.4031G>A (p.Arg1344Lys)
c.3239G>A (p.Arg1080Lys)
8g.60853129G>CCA371325066CHD7c.6404G>C (p.Arg2135Thr)
c.1717-9100G>C (n.1717-9100G>C)
c.6494G>C (p.Arg2165Thr)
c.4481G>C (p.Arg1494Thr)
c.4031G>C (p.Arg1344Thr)
c.3239G>C (p.Arg1080Thr)
8g.60853129G>TCA371325067CHD7c.6404G>T (p.Arg2135Ile)
c.1717-9100G>T (n.1717-9100G>T)
c.6494G>T (p.Arg2165Ile)
c.4481G>T (p.Arg1494Ile)
c.4031G>T (p.Arg1344Ile)
c.3239G>T (p.Arg1080Ile)
8g.60853130A>CCA371325069CHD7c.6405A>C (p.Arg2135Ser)
c.1717-9099A>C (n.1717-9099A>C)
c.6495A>C (p.Arg2165Ser)
c.4482A>C (p.Arg1494Ser)
c.4032A>C (p.Arg1344Ser)
c.3240A>C (p.Arg1080Ser)
8g.60853130A>GCA461105366CHD7c.6405A>G (p.Arg2135=)
c.1717-9099A>G (n.1717-9099A>G)
c.6495A>G (p.Arg2165=)
c.4482A>G (p.Arg1494=)
c.4032A>G (p.Arg1344=)
c.3240A>G (p.Arg1080=)
8g.60853130A>TCA371325068CHD7c.6405A>T (p.Arg2135Ser)
c.1717-9099A>T (n.1717-9099A>T)
c.6495A>T (p.Arg2165Ser)
c.4482A>T (p.Arg1494Ser)
c.4032A>T (p.Arg1344Ser)
c.3240A>T (p.Arg1080Ser)
8g.60853131G>ACA371325070CHD7c.6406G>A (p.Gly2136Arg)
c.1717-9098G>A (n.1717-9098G>A)
c.6496G>A (p.Gly2166Arg)
c.4483G>A (p.Gly1495Arg)
c.4033G>A (p.Gly1345Arg)
c.3241G>A (p.Gly1081Arg)
8g.60853131G>CCA371325071CHD7c.6406G>C (p.Gly2136Arg)
c.1717-9098G>C (n.1717-9098G>C)
c.6496G>C (p.Gly2166Arg)
c.4483G>C (p.Gly1495Arg)
c.4033G>C (p.Gly1345Arg)
c.3241G>C (p.Gly1081Arg)
8g.60853131G>TCA371325072CHD7c.6406G>T (p.Gly2136Trp)
c.1717-9098G>T (n.1717-9098G>T)
c.6496G>T (p.Gly2166Trp)
c.4483G>T (p.Gly1495Trp)
c.4033G>T (p.Gly1345Trp)
c.3241G>T (p.Gly1081Trp)
8g.60853132G>ACA371325074CHD7c.6407G>A (p.Gly2136Glu)
c.1717-9097G>A (n.1717-9097G>A)
c.6497G>A (p.Gly2166Glu)
c.4484G>A (p.Gly1495Glu)
c.4034G>A (p.Gly1345Glu)
c.3242G>A (p.Gly1081Glu)
 ClinVar dbSNP gnomAD v4
8g.60853132G>CCA371325076CHD7c.6407G>C (p.Gly2136Ala)
c.1717-9097G>C (n.1717-9097G>C)
c.6497G>C (p.Gly2166Ala)
c.4484G>C (p.Gly1495Ala)
c.4034G>C (p.Gly1345Ala)
c.3242G>C (p.Gly1081Ala)
8g.60853132G=CA1788103781CHD7c.6407G= (p.Gly2136=)
c.1717-9097G= (n.1717-9097G=)
c.6497G= (p.Gly2166=)
c.4484G= (p.Gly1495=)
c.4034G= (p.Gly1345=)
c.3242G= (p.Gly1081=)
8g.60853132G>TCA371325077CHD7c.6407G>T (p.Gly2136Val)
c.1717-9097G>T (n.1717-9097G>T)
c.6497G>T (p.Gly2166Val)
c.4484G>T (p.Gly1495Val)
c.4034G>T (p.Gly1345Val)
c.3242G>T (p.Gly1081Val)
8g.60853133G>ACA461105369CHD7c.6408G>A (p.Gly2136=)
c.1717-9096G>A (n.1717-9096G>A)
c.6498G>A (p.Gly2166=)
c.4485G>A (p.Gly1495=)
c.4035G>A (p.Gly1345=)
c.3243G>A (p.Gly1081=)
 gnomAD v4
8g.60853133G>CCA461105371CHD7c.6408G>C (p.Gly2136=)
c.1717-9096G>C (n.1717-9096G>C)
c.6498G>C (p.Gly2166=)
c.4485G>C (p.Gly1495=)
c.4035G>C (p.Gly1345=)
c.3243G>C (p.Gly1081=)
8g.60853133G>TCA461105370CHD7c.6408G>T (p.Gly2136=)
c.1717-9096G>T (n.1717-9096G>T)
c.6498G>T (p.Gly2166=)
c.4485G>T (p.Gly1495=)
c.4035G>T (p.Gly1345=)
c.3243G>T (p.Gly1081=)
8g.60853134G>ACA371325078CHD7c.6409G>A (p.Ala2137Thr)
c.1717-9095G>A (n.1717-9095G>A)
c.6499G>A (p.Ala2167Thr)
c.4486G>A (p.Ala1496Thr)
c.4036G>A (p.Ala1346Thr)
c.3244G>A (p.Ala1082Thr)
 dbSNP gnomAD v4
8g.60853134G>CCA371325083CHD7c.6409G>C (p.Ala2137Pro)
c.1717-9095G>C (n.1717-9095G>C)
c.6499G>C (p.Ala2167Pro)
c.4486G>C (p.Ala1496Pro)
c.4036G>C (p.Ala1346Pro)
c.3244G>C (p.Ala1082Pro)
8g.60853134G>TCA371325080CHD7c.6409G>T (p.Ala2137Ser)
c.1717-9095G>T (n.1717-9095G>T)
c.6499G>T (p.Ala2167Ser)
c.4486G>T (p.Ala1496Ser)
c.4036G>T (p.Ala1346Ser)
c.3244G>T (p.Ala1082Ser)
 gnomAD v4
8g.60853135C>ACA371325085CHD7c.6410C>A (p.Ala2137Glu)
c.1717-9094C>A (n.1717-9094C>A)
c.6500C>A (p.Ala2167Glu)
c.4487C>A (p.Ala1496Glu)
c.4037C>A (p.Ala1346Glu)
c.3245C>A (p.Ala1082Glu)
8g.60853135C=CA1788103788CHD7c.6410C= (p.Ala2137=)
c.1717-9094C= (n.1717-9094C=)
c.6500C= (p.Ala2167=)
c.4487C= (p.Ala1496=)
c.4037C= (p.Ala1346=)
c.3245C= (p.Ala1082=)
8g.60853135C>GCA371325087CHD7c.6410C>G (p.Ala2137Gly)
c.1717-9094C>G (n.1717-9094C>G)
c.6500C>G (p.Ala2167Gly)
c.4487C>G (p.Ala1496Gly)
c.4037C>G (p.Ala1346Gly)
c.3245C>G (p.Ala1082Gly)
8g.60853135C>TCA371325089CHD7c.6410C>T (p.Ala2137Val)
c.1717-9094C>T (n.1717-9094C>T)
c.6500C>T (p.Ala2167Val)
c.4487C>T (p.Ala1496Val)
c.4037C>T (p.Ala1346Val)
c.3245C>T (p.Ala1082Val)
 dbSNP COSMIC
8g.60853136A>CCA461105373CHD7c.6411A>C (p.Ala2137=)
c.1717-9093A>C (n.1717-9093A>C)
c.6501A>C (p.Ala2167=)
c.4488A>C (p.Ala1496=)
c.4038A>C (p.Ala1346=)
c.3246A>C (p.Ala1082=)
8g.60853136A>GCA461105376CHD7c.6411A>G (p.Ala2137=)
c.1717-9093A>G (n.1717-9093A>G)
c.6501A>G (p.Ala2167=)
c.4488A>G (p.Ala1496=)
c.4038A>G (p.Ala1346=)
c.3246A>G (p.Ala1082=)
 gnomAD v4
8g.60853136A>TCA461105377CHD7c.6411A>T (p.Ala2137=)
c.1717-9093A>T (n.1717-9093A>T)
c.6501A>T (p.Ala2167=)
c.4488A>T (p.Ala1496=)
c.4038A>T (p.Ala1346=)
c.3246A>T (p.Ala1082=)
 dbSNP
8g.60853137G>ACA371325093CHD7c.6412G>A (p.Gly2138Ser)
c.1717-9092G>A (n.1717-9092G>A)
c.6502G>A (p.Gly2168Ser)
c.4489G>A (p.Gly1497Ser)
c.4039G>A (p.Gly1347Ser)
c.3247G>A (p.Gly1083Ser)
 ClinVar
8g.60853137G>CCA371325094CHD7c.6412G>C (p.Gly2138Arg)
c.1717-9092G>C (n.1717-9092G>C)
c.6502G>C (p.Gly2168Arg)
c.4489G>C (p.Gly1497Arg)
c.4039G>C (p.Gly1347Arg)
c.3247G>C (p.Gly1083Arg)
8g.60853137G=CA1788103793CHD7c.6412G= (p.Gly2138=)
c.1717-9092G= (n.1717-9092G=)
c.6502G= (p.Gly2168=)
c.4489G= (p.Gly1497=)
c.4039G= (p.Gly1347=)
c.3247G= (p.Gly1083=)
8g.60853137G>TCA371325095CHD7c.6412G>T (p.Gly2138Cys)
c.1717-9092G>T (n.1717-9092G>T)
c.6502G>T (p.Gly2168Cys)
c.4489G>T (p.Gly1497Cys)
c.4039G>T (p.Gly1347Cys)
c.3247G>T (p.Gly1083Cys)
8g.60853137_60853138insATCCAAGCTTCA1788103814CHD7c.6412_6413insATCCAAGCTT (p.Gly2138AspfsTer5)
c.1717-9092_1717-9091insATCCAAGCTT (n.1717-9092_1717-9091insATCCAAGCTT)
c.6502_6503insATCCAAGCTT (p.Gly2168AspfsTer5)
c.4489_4490insATCCAAGCTT (p.Gly1497AspfsTer5)
c.4039_4040insATCCAAGCTT (p.Gly1347AspfsTer5)
c.3247_3248insATCCAAGCTT (p.Gly1083AspfsTer5)
 dbSNP
8g.60853138G>ACA371325099CHD7c.6413G>A (p.Gly2138Asp)
c.1717-9091G>A (n.1717-9091G>A)
c.6503G>A (p.Gly2168Asp)
c.4490G>A (p.Gly1497Asp)
c.4040G>A (p.Gly1347Asp)
c.3248G>A (p.Gly1083Asp)
8g.60853138G>CCA371325101CHD7c.6413G>C (p.Gly2138Ala)
c.1717-9091G>C (n.1717-9091G>C)
c.6503G>C (p.Gly2168Ala)
c.4490G>C (p.Gly1497Ala)
c.4040G>C (p.Gly1347Ala)
c.3248G>C (p.Gly1083Ala)
8g.60853138G>TCA371325102CHD7c.6413G>T (p.Gly2138Val)
c.1717-9091G>T (n.1717-9091G>T)
c.6503G>T (p.Gly2168Val)
c.4490G>T (p.Gly1497Val)
c.4040G>T (p.Gly1347Val)
c.3248G>T (p.Gly1083Val)
8g.60853139T>ACA461105380CHD7c.6414T>A (p.Gly2138=)
c.1717-9090T>A (n.1717-9090T>A)
c.6504T>A (p.Gly2168=)
c.4491T>A (p.Gly1497=)
c.4041T>A (p.Gly1347=)
c.3249T>A (p.Gly1083=)
8g.60853139T>CCA461105381CHD7c.6414T>C (p.Gly2138=)
c.1717-9090T>C (n.1717-9090T>C)
c.6504T>C (p.Gly2168=)
c.4491T>C (p.Gly1497=)
c.4041T>C (p.Gly1347=)
c.3249T>C (p.Gly1083=)
8g.60853139T>GCA461105382CHD7c.6414T>G (p.Gly2138=)
c.1717-9090T>G (n.1717-9090T>G)
c.6504T>G (p.Gly2168=)
c.4491T>G (p.Gly1497=)
c.4041T>G (p.Gly1347=)
c.3249T>G (p.Gly1083=)
8g.60853140A=CA1788103817CHD7c.6415A= (p.Asn2139=)
c.1717-9089A= (n.1717-9089A=)
c.6505A= (p.Asn2169=)
c.4492A= (p.Asn1498=)
c.4042A= (p.Asn1348=)
c.3250A= (p.Asn1084=)
8g.60853140A>CCA371325105CHD7c.6415A>C (p.Asn2139His)
c.1717-9089A>C (n.1717-9089A>C)
c.6505A>C (p.Asn2169His)
c.4492A>C (p.Asn1498His)
c.4042A>C (p.Asn1348His)
c.3250A>C (p.Asn1084His)
 gnomAD v4
8g.60853140A>GCA371325106CHD7c.6415A>G (p.Asn2139Asp)
c.1717-9089A>G (n.1717-9089A>G)
c.6505A>G (p.Asn2169Asp)
c.4492A>G (p.Asn1498Asp)
c.4042A>G (p.Asn1348Asp)
c.3250A>G (p.Asn1084Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853140A>TCA371325108CHD7c.6415A>T (p.Asn2139Tyr)
c.1717-9089A>T (n.1717-9089A>T)
c.6505A>T (p.Asn2169Tyr)
c.4492A>T (p.Asn1498Tyr)
c.4042A>T (p.Asn1348Tyr)
c.3250A>T (p.Asn1084Tyr)
8g.60853141dupCA2695209423CHD7c.6416dup (p.Asn2139LysfsTer27)
c.1717-9088dup (n.1717-9088dup)
c.6506dup (p.Asn2169LysfsTer27)
c.4493dup (p.Asn1498LysfsTer27)
c.4043dup (p.Asn1348LysfsTer27)
c.3251dup (p.Asn1084LysfsTer27)
8g.60853141A>CCA371325111CHD7c.6416A>C (p.Asn2139Thr)
c.1717-9088A>C (n.1717-9088A>C)
c.6506A>C (p.Asn2169Thr)
c.4493A>C (p.Asn1498Thr)
c.4043A>C (p.Asn1348Thr)
c.3251A>C (p.Asn1084Thr)
8g.60853141A>GCA371325113CHD7c.6416A>G (p.Asn2139Ser)
c.1717-9088A>G (n.1717-9088A>G)
c.6506A>G (p.Asn2169Ser)
c.4493A>G (p.Asn1498Ser)
c.4043A>G (p.Asn1348Ser)
c.3251A>G (p.Asn1084Ser)
 gnomAD v4
8g.60853141A>TCA371325112CHD7c.6416A>T (p.Asn2139Ile)
c.1717-9088A>T (n.1717-9088A>T)
c.6506A>T (p.Asn2169Ile)
c.4493A>T (p.Asn1498Ile)
c.4043A>T (p.Asn1348Ile)
c.3251A>T (p.Asn1084Ile)
8g.60853142T>ACA371325115CHD7c.6417T>A (p.Asn2139Lys)
c.1717-9087T>A (n.1717-9087T>A)
c.6507T>A (p.Asn2169Lys)
c.4494T>A (p.Asn1498Lys)
c.4044T>A (p.Asn1348Lys)
c.3252T>A (p.Asn1084Lys)
8g.60853142T>CCA461105388CHD7c.6417T>C (p.Asn2139=)
c.1717-9087T>C (n.1717-9087T>C)
c.6507T>C (p.Asn2169=)
c.4494T>C (p.Asn1498=)
c.4044T>C (p.Asn1348=)
c.3252T>C (p.Asn1084=)
8g.60853142T>GCA371325117CHD7c.6417T>G (p.Asn2139Lys)
c.1717-9087T>G (n.1717-9087T>G)
c.6507T>G (p.Asn2169Lys)
c.4494T>G (p.Asn1498Lys)
c.4044T>G (p.Asn1348Lys)
c.3252T>G (p.Asn1084Lys)
8g.60853143A>CCA371325120CHD7c.6418A>C (p.Thr2140Pro)
c.1717-9086A>C (n.1717-9086A>C)
c.6508A>C (p.Thr2170Pro)
c.4495A>C (p.Thr1499Pro)
c.4045A>C (p.Thr1349Pro)
c.3253A>C (p.Thr1085Pro)
8g.60853143A>GCA371325123CHD7c.6418A>G (p.Thr2140Ala)
c.1717-9086A>G (n.1717-9086A>G)
c.6508A>G (p.Thr2170Ala)
c.4495A>G (p.Thr1499Ala)
c.4045A>G (p.Thr1349Ala)
c.3253A>G (p.Thr1085Ala)
 gnomAD v4
8g.60853143A>TCA371325125CHD7c.6418A>T (p.Thr2140Ser)
c.1717-9086A>T (n.1717-9086A>T)
c.6508A>T (p.Thr2170Ser)
c.4495A>T (p.Thr1499Ser)
c.4045A>T (p.Thr1349Ser)
c.3253A>T (p.Thr1085Ser)
8g.60853144C>ACA371325131CHD7c.6419C>A (p.Thr2140Lys)
c.1717-9085C>A (n.1717-9085C>A)
c.6509C>A (p.Thr2170Lys)
c.4496C>A (p.Thr1499Lys)
c.4046C>A (p.Thr1349Lys)
c.3254C>A (p.Thr1085Lys)
 gnomAD v4
8g.60853144C=CA1788103828CHD7c.6419C= (p.Thr2140=)
c.1717-9085C= (n.1717-9085C=)
c.6509C= (p.Thr2170=)
c.4496C= (p.Thr1499=)
c.4046C= (p.Thr1349=)
c.3254C= (p.Thr1085=)
8g.60853144C>GCA371325128CHD7c.6419C>G (p.Thr2140Arg)
c.1717-9085C>G (n.1717-9085C>G)
c.6509C>G (p.Thr2170Arg)
c.4496C>G (p.Thr1499Arg)
c.4046C>G (p.Thr1349Arg)
c.3254C>G (p.Thr1085Arg)
8g.60853144C>TCA177354108CHD7c.6419C>T (p.Thr2140Ile)
c.1717-9085C>T (n.1717-9085C>T)
c.6509C>T (p.Thr2170Ile)
c.4496C>T (p.Thr1499Ile)
c.4046C>T (p.Thr1349Ile)
c.3254C>T (p.Thr1085Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853144_60853148delCA2825001592CHD7c.6419_6423del (p.Thr2140IlefsTer24)
c.1717-9085_1717-9081del (n.1717-9085_1717-9081del)
c.6509_6513del (p.Thr2170IlefsTer24)
c.4496_4500del (p.Thr1499IlefsTer24)
c.4046_4050del (p.Thr1349IlefsTer24)
c.3254_3258del (p.Thr1085IlefsTer24)
 ClinVar
8g.60853145A=CA1788103830CHD7c.6420A= (p.Thr2140=)
c.1717-9084A= (n.1717-9084A=)
c.6510A= (p.Thr2170=)
c.4497A= (p.Thr1499=)
c.4047A= (p.Thr1349=)
c.3255A= (p.Thr1085=)
8g.60853145A>CCA461105390CHD7c.6420A>C (p.Thr2140=)
c.1717-9084A>C (n.1717-9084A>C)
c.6510A>C (p.Thr2170=)
c.4497A>C (p.Thr1499=)
c.4047A>C (p.Thr1349=)
c.3255A>C (p.Thr1085=)
8g.60853145A>GCA461105391CHD7c.6420A>G (p.Thr2140=)
c.1717-9084A>G (n.1717-9084A>G)
c.6510A>G (p.Thr2170=)
c.4497A>G (p.Thr1499=)
c.4047A>G (p.Thr1349=)
c.3255A>G (p.Thr1085=)
 dbSNP
8g.60853145A>TCA461105393CHD7c.6420A>T (p.Thr2140=)
c.1717-9084A>T (n.1717-9084A>T)
c.6510A>T (p.Thr2170=)
c.4497A>T (p.Thr1499=)
c.4047A>T (p.Thr1349=)
c.3255A>T (p.Thr1085=)
8g.60853146T>ACA371325133CHD7c.6421T>A (p.Ser2141Thr)
c.1717-9083T>A (n.1717-9083T>A)
c.6511T>A (p.Ser2171Thr)
c.4498T>A (p.Ser1500Thr)
c.4048T>A (p.Ser1350Thr)
c.3256T>A (p.Ser1086Thr)
8g.60853146T>CCA371325134CHD7c.6421T>C (p.Ser2141Pro)
c.1717-9083T>C (n.1717-9083T>C)
c.6511T>C (p.Ser2171Pro)
c.4498T>C (p.Ser1500Pro)
c.4048T>C (p.Ser1350Pro)
c.3256T>C (p.Ser1086Pro)
8g.60853146T>GCA371325135CHD7c.6421T>G (p.Ser2141Ala)
c.1717-9083T>G (n.1717-9083T>G)
c.6511T>G (p.Ser2171Ala)
c.4498T>G (p.Ser1500Ala)
c.4048T>G (p.Ser1350Ala)
c.3256T>G (p.Ser1086Ala)
8g.60853147C>ACA371325136CHD7c.6422C>A (p.Ser2141Tyr)
c.1717-9082C>A (n.1717-9082C>A)
c.6512C>A (p.Ser2171Tyr)
c.4499C>A (p.Ser1500Tyr)
c.4049C>A (p.Ser1350Tyr)
c.3257C>A (p.Ser1086Tyr)
8g.60853147C>GCA371325137CHD7c.6422C>G (p.Ser2141Cys)
c.1717-9082C>G (n.1717-9082C>G)
c.6512C>G (p.Ser2171Cys)
c.4499C>G (p.Ser1500Cys)
c.4049C>G (p.Ser1350Cys)
c.3257C>G (p.Ser1086Cys)
8g.60853147C>TCA371325138CHD7c.6422C>T (p.Ser2141Phe)
c.1717-9082C>T (n.1717-9082C>T)
c.6512C>T (p.Ser2171Phe)
c.4499C>T (p.Ser1500Phe)
c.4049C>T (p.Ser1350Phe)
c.3257C>T (p.Ser1086Phe)
8g.60853148T>ACA461105396CHD7c.6423T>A (p.Ser2141=)
c.1717-9081T>A (n.1717-9081T>A)
c.6513T>A (p.Ser2171=)
c.4500T>A (p.Ser1500=)
c.4050T>A (p.Ser1350=)
c.3258T>A (p.Ser1086=)
8g.60853148T>CCA461105395CHD7c.6423T>C (p.Ser2141=)
c.1717-9081T>C (n.1717-9081T>C)
c.6513T>C (p.Ser2171=)
c.4500T>C (p.Ser1500=)
c.4050T>C (p.Ser1350=)
c.3258T>C (p.Ser1086=)
8g.60853148T>GCA461105394CHD7c.6423T>G (p.Ser2141=)
c.1717-9081T>G (n.1717-9081T>G)
c.6513T>G (p.Ser2171=)
c.4500T>G (p.Ser1500=)
c.4050T>G (p.Ser1350=)
c.3258T>G (p.Ser1086=)
8g.60853149T>ACA371325140CHD7c.6424T>A (p.Ser2142Thr)
c.1717-9080T>A (n.1717-9080T>A)
c.6514T>A (p.Ser2172Thr)
c.4501T>A (p.Ser1501Thr)
c.4051T>A (p.Ser1351Thr)
c.3259T>A (p.Ser1087Thr)
8g.60853149T>CCA371325144CHD7c.6424T>C (p.Ser2142Pro)
c.1717-9080T>C (n.1717-9080T>C)
c.6514T>C (p.Ser2172Pro)
c.4501T>C (p.Ser1501Pro)
c.4051T>C (p.Ser1351Pro)
c.3259T>C (p.Ser1087Pro)
8g.60853149T>GCA371325142CHD7c.6424T>G (p.Ser2142Ala)
c.1717-9080T>G (n.1717-9080T>G)
c.6514T>G (p.Ser2172Ala)
c.4501T>G (p.Ser1501Ala)
c.4051T>G (p.Ser1351Ala)
c.3259T>G (p.Ser1087Ala)
8g.60853150C>ACA371325145CHD7c.6425C>A (p.Ser2142Tyr)
c.1717-9079C>A (n.1717-9079C>A)
c.6515C>A (p.Ser2172Tyr)
c.4502C>A (p.Ser1501Tyr)
c.4052C>A (p.Ser1351Tyr)
c.3260C>A (p.Ser1087Tyr)
8g.60853150C>GCA371325148CHD7c.6425C>G (p.Ser2142Cys)
c.1717-9079C>G (n.1717-9079C>G)
c.6515C>G (p.Ser2172Cys)
c.4502C>G (p.Ser1501Cys)
c.4052C>G (p.Ser1351Cys)
c.3260C>G (p.Ser1087Cys)
 ClinVar
8g.60853150C>TCA371325150CHD7c.6425C>T (p.Ser2142Phe)
c.1717-9079C>T (n.1717-9079C>T)
c.6515C>T (p.Ser2172Phe)
c.4502C>T (p.Ser1501Phe)
c.4052C>T (p.Ser1351Phe)
c.3260C>T (p.Ser1087Phe)
 COSMIC
8g.60853151delCA2580078860CHD7c.6426del (p.Leu2143Ter)
c.1717-9078del (n.1717-9078del)
c.6516del (p.Leu2173Ter)
c.4503del (p.Leu1502Ter)
c.4053del (p.Leu1352Ter)
c.3261del (p.Leu1088Ter)
 ClinVar
8g.60853151C>ACA461105405CHD7c.6426C>A (p.Ser2142=)
c.1717-9078C>A (n.1717-9078C>A)
c.6516C>A (p.Ser2172=)
c.4503C>A (p.Ser1501=)
c.4053C>A (p.Ser1351=)
c.3261C>A (p.Ser1087=)
8g.60853151C>GCA461105407CHD7c.6426C>G (p.Ser2142=)
c.1717-9078C>G (n.1717-9078C>G)
c.6516C>G (p.Ser2172=)
c.4503C>G (p.Ser1501=)
c.4053C>G (p.Ser1351=)
c.3261C>G (p.Ser1087=)
8g.60853151C>TCA461105406CHD7c.6426C>T (p.Ser2142=)
c.1717-9078C>T (n.1717-9078C>T)
c.6516C>T (p.Ser2172=)
c.4503C>T (p.Ser1501=)
c.4053C>T (p.Ser1351=)
c.3261C>T (p.Ser1087=)
 gnomAD v4
8g.60853152T>ACA371325153CHD7c.6427T>A (p.Leu2143Met)
c.1717-9077T>A (n.1717-9077T>A)
c.6517T>A (p.Leu2173Met)
c.4504T>A (p.Leu1502Met)
c.4054T>A (p.Leu1352Met)
c.3262T>A (p.Leu1088Met)
8g.60853152T>CCA461105408CHD7c.6427T>C (p.Leu2143=)
c.1717-9077T>C (n.1717-9077T>C)
c.6517T>C (p.Leu2173=)
c.4504T>C (p.Leu1502=)
c.4054T>C (p.Leu1352=)
c.3262T>C (p.Leu1088=)
8g.60853152T>GCA371325158CHD7c.6427T>G (p.Leu2143Val)
c.1717-9077T>G (n.1717-9077T>G)
c.6517T>G (p.Leu2173Val)
c.4504T>G (p.Leu1502Val)
c.4054T>G (p.Leu1352Val)
c.3262T>G (p.Leu1088Val)
8g.60853153T>ACA371325161CHD7c.6428T>A (p.Leu2143Ter)
c.1717-9076T>A (n.1717-9076T>A)
c.6518T>A (p.Leu2173Ter)
c.4505T>A (p.Leu1502Ter)
c.4055T>A (p.Leu1352Ter)
c.3263T>A (p.Leu1088Ter)
8g.60853153T>CCA371325162CHD7c.6428T>C (p.Leu2143Ser)
c.1717-9076T>C (n.1717-9076T>C)
c.6518T>C (p.Leu2173Ser)
c.4505T>C (p.Leu1502Ser)
c.4055T>C (p.Leu1352Ser)
c.3263T>C (p.Leu1088Ser)
8g.60853153T>GCA371325163CHD7c.6428T>G (p.Leu2143Trp)
c.1717-9076T>G (n.1717-9076T>G)
c.6518T>G (p.Leu2173Trp)
c.4505T>G (p.Leu1502Trp)
c.4055T>G (p.Leu1352Trp)
c.3263T>G (p.Leu1088Trp)
8g.60853154G>ACA461105410CHD7c.6429G>A (p.Leu2143=)
c.1717-9075G>A (n.1717-9075G>A)
c.6519G>A (p.Leu2173=)
c.4506G>A (p.Leu1502=)
c.4056G>A (p.Leu1352=)
c.3264G>A (p.Leu1088=)
 dbSNP gnomAD v2
8g.60853154G>CCA371325165CHD7c.6429G>C (p.Leu2143Phe)
c.1717-9075G>C (n.1717-9075G>C)
c.6519G>C (p.Leu2173Phe)
c.4506G>C (p.Leu1502Phe)
c.4056G>C (p.Leu1352Phe)
c.3264G>C (p.Leu1088Phe)
8g.60853154G=CA1788103833CHD7c.6429G= (p.Leu2143=)
c.1717-9075G= (n.1717-9075G=)
c.6519G= (p.Leu2173=)
c.4506G= (p.Leu1502=)
c.4056G= (p.Leu1352=)
c.3264G= (p.Leu1088=)
8g.60853154G>TCA371325167CHD7c.6429G>T (p.Leu2143Phe)
c.1717-9075G>T (n.1717-9075G>T)
c.6519G>T (p.Leu2173Phe)
c.4506G>T (p.Leu1502Phe)
c.4056G>T (p.Leu1352Phe)
c.3264G>T (p.Leu1088Phe)
8g.60853155A>CCA371325170CHD7c.6430A>C (p.Asn2144His)
c.1717-9074A>C (n.1717-9074A>C)
c.6520A>C (p.Asn2174His)
c.4507A>C (p.Asn1503His)
c.4057A>C (p.Asn1353His)
c.3265A>C (p.Asn1089His)
8g.60853155A>GCA371325175CHD7c.6430A>G (p.Asn2144Asp)
c.1717-9074A>G (n.1717-9074A>G)
c.6520A>G (p.Asn2174Asp)
c.4507A>G (p.Asn1503Asp)
c.4057A>G (p.Asn1353Asp)
c.3265A>G (p.Asn1089Asp)
8g.60853155A>TCA371325173CHD7c.6430A>T (p.Asn2144Tyr)
c.1717-9074A>T (n.1717-9074A>T)
c.6520A>T (p.Asn2174Tyr)
c.4507A>T (p.Asn1503Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3265A>T (p.Asn1089Tyr)
8g.60853156A=CA1788103840CHD7c.6431A= (p.Asn2144=)
c.1717-9073A= (n.1717-9073A=)
c.6521A= (p.Asn2174=)
c.4508A= (p.Asn1503=)
c.4058A= (p.Asn1353=)
c.3266A= (p.Asn1089=)
8g.60853156A>CCA371325176CHD7c.6431A>C (p.Asn2144Thr)
c.1717-9073A>C (n.1717-9073A>C)
c.6521A>C (p.Asn2174Thr)
c.4508A>C (p.Asn1503Thr)
c.4058A>C (p.Asn1353Thr)
c.3266A>C (p.Asn1089Thr)
 ClinVar
8g.60853156A>GCA371325180CHD7c.6431A>G (p.Asn2144Ser)
c.1717-9073A>G (n.1717-9073A>G)
c.6521A>G (p.Asn2174Ser)
c.4508A>G (p.Asn1503Ser)
c.4058A>G (p.Asn1353Ser)
c.3266A>G (p.Asn1089Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853156A>TCA371325178CHD7c.6431A>T (p.Asn2144Ile)
c.1717-9073A>T (n.1717-9073A>T)
c.6521A>T (p.Asn2174Ile)
c.4508A>T (p.Asn1503Ile)
c.4058A>T (p.Asn1353Ile)
c.3266A>T (p.Asn1089Ile)
8g.60853157C>ACA371325183CHD7c.6432C>A (p.Asn2144Lys)
c.1717-9072C>A (n.1717-9072C>A)
c.6522C>A (p.Asn2174Lys)
c.4509C>A (p.Asn1503Lys)
c.4059C>A (p.Asn1353Lys)
c.3267C>A (p.Asn1089Lys)
8g.60853157C=CA1788103843CHD7c.6432C= (p.Asn2144=)
c.1717-9072C= (n.1717-9072C=)
c.6522C= (p.Asn2174=)
c.4509C= (p.Asn1503=)
c.4059C= (p.Asn1353=)
c.3267C= (p.Asn1089=)
8g.60853157C>GCA371325185CHD7c.6432C>G (p.Asn2144Lys)
c.1717-9072C>G (n.1717-9072C>G)
c.6522C>G (p.Asn2174Lys)
c.4509C>G (p.Asn1503Lys)
c.4059C>G (p.Asn1353Lys)
c.3267C>G (p.Asn1089Lys)
8g.60853157C>TCA461105413CHD7c.6432C>T (p.Asn2144=)
c.1717-9072C>T (n.1717-9072C>T)
c.6522C>T (p.Asn2174=)
c.4509C>T (p.Asn1503=)
c.4059C>T (p.Asn1353=)
c.3267C>T (p.Asn1089=)
 dbSNP gnomAD v2
8g.60853158C>ACA371325187CHD7c.6433C>A (p.Pro2145Thr)
c.1717-9071C>A (n.1717-9071C>A)
c.6523C>A (p.Pro2175Thr)
c.4510C>A (p.Pro1504Thr)
c.4060C>A (p.Pro1354Thr)
c.3268C>A (p.Pro1090Thr)
8g.60853158C=CA1788103848CHD7c.6433C= (p.Pro2145=)
c.1717-9071C= (n.1717-9071C=)
c.6523C= (p.Pro2175=)
c.4510C= (p.Pro1504=)
c.4060C= (p.Pro1354=)
c.3268C= (p.Pro1090=)
8g.60853158C>GCA371325191CHD7c.6433C>G (p.Pro2145Ala)
c.1717-9071C>G (n.1717-9071C>G)
c.6523C>G (p.Pro2175Ala)
c.4510C>G (p.Pro1504Ala)
c.4060C>G (p.Pro1354Ala)
c.3268C>G (p.Pro1090Ala)
 dbSNP
8g.60853158C>TCA371325190CHD7c.6433C>T (p.Pro2145Ser)
c.1717-9071C>T (n.1717-9071C>T)
c.6523C>T (p.Pro2175Ser)
c.4510C>T (p.Pro1504Ser)
c.4060C>T (p.Pro1354Ser)
c.3268C>T (p.Pro1090Ser)
 ClinVar
8g.60853159C>ACA371325193CHD7c.6434C>A (p.Pro2145Gln)
c.1717-9070C>A (n.1717-9070C>A)
c.6524C>A (p.Pro2175Gln)
c.4511C>A (p.Pro1504Gln)
c.4061C>A (p.Pro1354Gln)
c.3269C>A (p.Pro1090Gln)
8g.60853159C>GCA371325196CHD7c.6434C>G (p.Pro2145Arg)
c.1717-9070C>G (n.1717-9070C>G)
c.6524C>G (p.Pro2175Arg)
c.4511C>G (p.Pro1504Arg)
c.4061C>G (p.Pro1354Arg)
c.3269C>G (p.Pro1090Arg)
8g.60853159C>TCA371325197CHD7c.6434C>T (p.Pro2145Leu)
c.1717-9070C>T (n.1717-9070C>T)
c.6524C>T (p.Pro2175Leu)
c.4511C>T (p.Pro1504Leu)
c.4061C>T (p.Pro1354Leu)
c.3269C>T (p.Pro1090Leu)
8g.60853160A=CA1788103857CHD7c.6435A= (p.Pro2145=)
c.1717-9069A= (n.1717-9069A=)
c.6525A= (p.Pro2175=)
c.4512A= (p.Pro1504=)
c.4062A= (p.Pro1354=)
c.3270A= (p.Pro1090=)
8g.60853160A>CCA461105420CHD7c.6435A>C (p.Pro2145=)
c.1717-9069A>C (n.1717-9069A>C)
c.6525A>C (p.Pro2175=)
c.4512A>C (p.Pro1504=)
c.4062A>C (p.Pro1354=)
c.3270A>C (p.Pro1090=)
8g.60853160A>GCA461105421CHD7c.6435A>G (p.Pro2145=)
c.1717-9069A>G (n.1717-9069A>G)
c.6525A>G (p.Pro2175=)
c.4512A>G (p.Pro1504=)
c.4062A>G (p.Pro1354=)
c.3270A>G (p.Pro1090=)
 ClinVar dbSNP gnomAD v4
8g.60853160A>TCA461105419CHD7c.6435A>T (p.Pro2145=)
c.1717-9069A>T (n.1717-9069A>T)
c.6525A>T (p.Pro2175=)
c.4512A>T (p.Pro1504=)
c.4062A>T (p.Pro1354=)
c.3270A>T (p.Pro1090=)
8g.60853161C>ACA371325199CHD7c.6436C>A (p.Leu2146Met)
c.1717-9068C>A (n.1717-9068C>A)
c.6526C>A (p.Leu2176Met)
c.4513C>A (p.Leu1505Met)
c.4063C>A (p.Leu1355Met)
c.3271C>A (p.Leu1091Met)
8g.60853161C>GCA371325201CHD7c.6436C>G (p.Leu2146Val)
c.1717-9068C>G (n.1717-9068C>G)
c.6526C>G (p.Leu2176Val)
c.4513C>G (p.Leu1505Val)
c.4063C>G (p.Leu1355Val)
c.3271C>G (p.Leu1091Val)
 gnomAD v4
8g.60853161C>TCA461105422CHD7c.6436C>T (p.Leu2146=)
c.1717-9068C>T (n.1717-9068C>T)
c.6526C>T (p.Leu2176=)
c.4513C>T (p.Leu1505=)
c.4063C>T (p.Leu1355=)
c.3271C>T (p.Leu1091=)
 ClinVar dbSNP
8g.60853162T>ACA371325204CHD7c.6437T>A (p.Leu2146Gln)
c.1717-9067T>A (n.1717-9067T>A)
c.6527T>A (p.Leu2176Gln)
c.4514T>A (p.Leu1505Gln)
c.4064T>A (p.Leu1355Gln)
c.3272T>A (p.Leu1091Gln)
8g.60853162T>CCA243780CHD7c.6437T>C (p.Leu2146Pro)
c.1717-9067T>C (n.1717-9067T>C)
c.6527T>C (p.Leu2176Pro)
c.4514T>C (p.Leu1505Pro)
c.4064T>C (p.Leu1355Pro)
c.3272T>C (p.Leu1091Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853162T>GCA371325206CHD7c.6437T>G (p.Leu2146Arg)
c.1717-9067T>G (n.1717-9067T>G)
c.6527T>G (p.Leu2176Arg)
c.4514T>G (p.Leu1505Arg)
c.4064T>G (p.Leu1355Arg)
c.3272T>G (p.Leu1091Arg)
8g.60853162T=CA1788103868CHD7c.6437T= (p.Leu2146=)
c.1717-9067T= (n.1717-9067T=)
c.6527T= (p.Leu2176=)
c.4514T= (p.Leu1505=)
c.4064T= (p.Leu1355=)
c.3272T= (p.Leu1091=)
8g.60853163G>ACA461105426CHD7c.6438G>A (p.Leu2146=)
c.1717-9066G>A (n.1717-9066G>A)
c.6528G>A (p.Leu2176=)
c.4515G>A (p.Leu1505=)
c.4065G>A (p.Leu1355=)
c.3273G>A (p.Leu1091=)
8g.60853163G>CCA461105427CHD7c.6438G>C (p.Leu2146=)
c.1717-9066G>C (n.1717-9066G>C)
c.6528G>C (p.Leu2176=)
c.4515G>C (p.Leu1505=)
c.4065G>C (p.Leu1355=)
c.3273G>C (p.Leu1091=)
 dbSNP
8g.60853163G>TCA461105429CHD7c.6438G>T (p.Leu2146=)
c.1717-9066G>T (n.1717-9066G>T)
c.6528G>T (p.Leu2176=)
c.4515G>T (p.Leu1505=)
c.4065G>T (p.Leu1355=)
c.3273G>T (p.Leu1091=)
8g.60853164G>ACA4760587CHD7c.6439G>A (p.Ala2147Thr)
c.1717-9065G>A (n.1717-9065G>A)
c.6529G>A (p.Ala2177Thr)
c.4516G>A (p.Ala1506Thr)
c.4066G>A (p.Ala1356Thr)
c.3274G>A (p.Ala1092Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853164G>CCA371325210CHD7c.6439G>C (p.Ala2147Pro)
c.1717-9065G>C (n.1717-9065G>C)
c.6529G>C (p.Ala2177Pro)
c.4516G>C (p.Ala1506Pro)
c.4066G>C (p.Ala1356Pro)
c.3274G>C (p.Ala1092Pro)
8g.60853164G=CA1788103876CHD7c.6439G= (p.Ala2147=)
c.1717-9065G= (n.1717-9065G=)
c.6529G= (p.Ala2177=)
c.4516G= (p.Ala1506=)
c.4066G= (p.Ala1356=)
c.3274G= (p.Ala1092=)
8g.60853164G>TCA371325213CHD7c.6439G>T (p.Ala2147Ser)
c.1717-9065G>T (n.1717-9065G>T)
c.6529G>T (p.Ala2177Ser)
c.4516G>T (p.Ala1506Ser)
c.4066G>T (p.Ala1356Ser)
c.3274G>T (p.Ala1092Ser)
8g.60853165C>ACA371325219CHD7c.6440C>A (p.Ala2147Glu)
c.1717-9064C>A (n.1717-9064C>A)
c.6530C>A (p.Ala2177Glu)
c.4517C>A (p.Ala1506Glu)
c.4067C>A (p.Ala1356Glu)
c.3275C>A (p.Ala1092Glu)
8g.60853165C=CA1788103879CHD7c.6440C= (p.Ala2147=)
c.1717-9064C= (n.1717-9064C=)
c.6530C= (p.Ala2177=)
c.4517C= (p.Ala1506=)
c.4067C= (p.Ala1356=)
c.3275C= (p.Ala1092=)
8g.60853165C>GCA177354113CHD7c.6440C>G (p.Ala2147Gly)
c.1717-9064C>G (n.1717-9064C>G)
c.6530C>G (p.Ala2177Gly)
c.4517C>G (p.Ala1506Gly)
c.4067C>G (p.Ala1356Gly)
c.3275C>G (p.Ala1092Gly)
 ClinVar dbSNP gnomAD v4
8g.60853165C>TCA371325216CHD7c.6440C>T (p.Ala2147Val)
c.1717-9064C>T (n.1717-9064C>T)
c.6530C>T (p.Ala2177Val)
c.4517C>T (p.Ala1506Val)
c.4067C>T (p.Ala1356Val)
c.3275C>T (p.Ala1092Val)
 dbSNP
8g.60853166A>CCA461105432CHD7c.6441A>C (p.Ala2147=)
c.1717-9063A>C (n.1717-9063A>C)
c.6531A>C (p.Ala2177=)
c.4518A>C (p.Ala1506=)
c.4068A>C (p.Ala1356=)
c.3276A>C (p.Ala1092=)
8g.60853166A>GCA461105435CHD7c.6441A>G (p.Ala2147=)
c.1717-9063A>G (n.1717-9063A>G)
c.6531A>G (p.Ala2177=)
c.4518A>G (p.Ala1506=)
c.4068A>G (p.Ala1356=)
c.3276A>G (p.Ala1092=)
8g.60853166A>TCA461105437CHD7c.6441A>T (p.Ala2147=)
c.1717-9063A>T (n.1717-9063A>T)
c.6531A>T (p.Ala2177=)
c.4518A>T (p.Ala1506=)
c.4068A>T (p.Ala1356=)
c.3276A>T (p.Ala1092=)
8g.60853167G>ACA371325220CHD7c.6442G>A (p.Val2148Ile)
c.1717-9062G>A (n.1717-9062G>A)
c.6532G>A (p.Val2178Ile)
c.4519G>A (p.Val1507Ile)
c.4069G>A (p.Val1357Ile)
c.3277G>A (p.Val1093Ile)
8g.60853167G>CCA371325222CHD7c.6442G>C (p.Val2148Leu)
c.1717-9062G>C (n.1717-9062G>C)
c.6532G>C (p.Val2178Leu)
c.4519G>C (p.Val1507Leu)
c.4069G>C (p.Val1357Leu)
c.3277G>C (p.Val1093Leu)
8g.60853167G>TCA371325223CHD7c.6442G>T (p.Val2148Phe)
c.1717-9062G>T (n.1717-9062G>T)
c.6532G>T (p.Val2178Phe)
c.4519G>T (p.Val1507Phe)
c.4069G>T (p.Val1357Phe)
c.3277G>T (p.Val1093Phe)
8g.60853168T>ACA371325225CHD7c.6443T>A (p.Val2148Asp)
c.1717-9061T>A (n.1717-9061T>A)
c.6533T>A (p.Val2178Asp)
c.4520T>A (p.Val1507Asp)
c.4070T>A (p.Val1357Asp)
c.3278T>A (p.Val1093Asp)
8g.60853168T>CCA371325227CHD7c.6443T>C (p.Val2148Ala)
c.1717-9061T>C (n.1717-9061T>C)
c.6533T>C (p.Val2178Ala)
c.4520T>C (p.Val1507Ala)
c.4070T>C (p.Val1357Ala)
c.3278T>C (p.Val1093Ala)
8g.60853168T>GCA371325229CHD7c.6443T>G (p.Val2148Gly)
c.1717-9061T>G (n.1717-9061T>G)
c.6533T>G (p.Val2178Gly)
c.4520T>G (p.Val1507Gly)
c.4070T>G (p.Val1357Gly)
c.3278T>G (p.Val1093Gly)
8g.60853169T>ACA461105439CHD7c.6444T>A (p.Val2148=)
c.1717-9060T>A (n.1717-9060T>A)
c.6534T>A (p.Val2178=)
c.4521T>A (p.Val1507=)
c.4071T>A (p.Val1357=)
c.3279T>A (p.Val1093=)
8g.60853169T>CCA461105441CHD7c.6444T>C (p.Val2148=)
c.1717-9060T>C (n.1717-9060T>C)
c.6534T>C (p.Val2178=)
c.4521T>C (p.Val1507=)
c.4071T>C (p.Val1357=)
c.3279T>C (p.Val1093=)
8g.60853169T>GCA461105442CHD7c.6444T>G (p.Val2148=)
c.1717-9060T>G (n.1717-9060T>G)
c.6534T>G (p.Val2178=)
c.4521T>G (p.Val1507=)
c.4071T>G (p.Val1357=)
c.3279T>G (p.Val1093=)
8g.60853169_60853170delinsTGCA1788103888CHD7c.6444_6445delinsTG (p.Val2148=)
c.1717-9060_1717-9059delinsTG (n.1717-9060_1717-9059delinsTG)
c.6534_6535delinsTG (p.Val2178=)
c.4521_4522delinsTG (p.Val1507=)
c.4071_4072delinsTG (p.Val1357=)
c.3279_3280delinsTG (p.Val1093=)
8g.60853170G>ACA371325232CHD7c.6445G>A (p.Gly2149Arg)
c.1717-9059G>A (n.1717-9059G>A)
c.6535G>A (p.Gly2179Arg)
c.4522G>A (p.Gly1508Arg)
c.4072G>A (p.Gly1358Arg)
c.3280G>A (p.Gly1094Arg)
8g.60853170G>CCA371325234CHD7c.6445G>C (p.Gly2149Arg)
c.1717-9059G>C (n.1717-9059G>C)
c.6535G>C (p.Gly2179Arg)
c.4522G>C (p.Gly1508Arg)
c.4072G>C (p.Gly1358Arg)
c.3280G>C (p.Gly1094Arg)
8g.60853170G>TCA371325235CHD7c.6445G>T (p.Gly2149Ter)
c.1717-9059G>T (n.1717-9059G>T)
c.6535G>T (p.Gly2179Ter)
c.4522G>T (p.Gly1508Ter)
c.4072G>T (p.Gly1358Ter)
c.3280G>T (p.Gly1094Ter)
8g.60853171delCA277207CHD7c.6446del (p.Gly2149AspfsTer?)
c.1717-9058del (n.1717-9058del)
c.6536del (p.Gly2179AspfsTer?)
c.4523del (p.Gly1508AspfsTer?)
c.4073del (p.Gly1358AspfsTer?)
c.3281del (p.Gly1094AspfsTer?)
 ClinVar dbSNP
8g.60853171G>ACA371325237CHD7c.6446G>A (p.Gly2149Glu)
c.1717-9058G>A (n.1717-9058G>A)
c.6536G>A (p.Gly2179Glu)
c.4523G>A (p.Gly1508Glu)
c.4073G>A (p.Gly1358Glu)
c.3281G>A (p.Gly1094Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60853171G>CCA371325239CHD7c.6446G>C (p.Gly2149Ala)
c.1717-9058G>C (n.1717-9058G>C)
c.6536G>C (p.Gly2179Ala)
c.4523G>C (p.Gly1508Ala)
c.4073G>C (p.Gly1358Ala)
c.3281G>C (p.Gly1094Ala)
8g.60853171G=CA1788103908CHD7c.6446G= (p.Gly2149=)
c.1717-9058G= (n.1717-9058G=)
c.6536G= (p.Gly2179=)
c.4523G= (p.Gly1508=)
c.4073G= (p.Gly1358=)
c.3281G= (p.Gly1094=)
8g.60853171G>TCA4760588CHD7c.6446G>T (p.Gly2149Val)
c.1717-9058G>T (n.1717-9058G>T)
c.6536G>T (p.Gly2179Val)
c.4523G>T (p.Gly1508Val)
c.4073G>T (p.Gly1358Val)
c.3281G>T (p.Gly1094Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853172A>CCA461105448CHD7c.6447A>C (p.Gly2149=)
c.1717-9057A>C (n.1717-9057A>C)
c.6537A>C (p.Gly2179=)
c.4524A>C (p.Gly1508=)
c.4074A>C (p.Gly1358=)
c.3282A>C (p.Gly1094=)
8g.60853172A>GCA461105449CHD7c.6447A>G (p.Gly2149=)
c.1717-9057A>G (n.1717-9057A>G)
c.6537A>G (p.Gly2179=)
c.4524A>G (p.Gly1508=)
c.4074A>G (p.Gly1358=)
c.3282A>G (p.Gly1094=)
8g.60853172A>TCA461105451CHD7c.6447A>T (p.Gly2149=)
c.1717-9057A>T (n.1717-9057A>T)
c.6537A>T (p.Gly2179=)
c.4524A>T (p.Gly1508=)
c.4074A>T (p.Gly1358=)
c.3282A>T (p.Gly1094=)
8g.60853173T>ACA371325241CHD7c.6448T>A (p.Phe2150Ile)
c.1717-9056T>A (n.1717-9056T>A)
c.6538T>A (p.Phe2180Ile)
c.4525T>A (p.Phe1509Ile)
c.4075T>A (p.Phe1359Ile)
c.3283T>A (p.Phe1095Ile)
8g.60853173T>CCA371325243CHD7c.6448T>C (p.Phe2150Leu)
c.1717-9056T>C (n.1717-9056T>C)
c.6538T>C (p.Phe2180Leu)
c.4525T>C (p.Phe1509Leu)
c.4075T>C (p.Phe1359Leu)
c.3283T>C (p.Phe1095Leu)
8g.60853173T>GCA371325245CHD7c.6448T>G (p.Phe2150Val)
c.1717-9056T>G (n.1717-9056T>G)
c.6538T>G (p.Phe2180Val)
c.4525T>G (p.Phe1509Val)
c.4075T>G (p.Phe1359Val)
c.3283T>G (p.Phe1095Val)
8g.60853175delCA2739289517CHD7c.6450del (p.Phe2150LeufsTer?)
c.1717-9054del (n.1717-9054del)
c.6540del (p.Phe2180LeufsTer?)
c.4527del (p.Phe1509LeufsTer?)
c.4077del (p.Phe1359LeufsTer?)
c.3285del (p.Phe1095LeufsTer?)
8g.60853174T>ACA371325249CHD7c.6449T>A (p.Phe2150Tyr)
c.1717-9055T>A (n.1717-9055T>A)
c.6539T>A (p.Phe2180Tyr)
c.4526T>A (p.Phe1509Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3284T>A (p.Phe1095Tyr)
8g.60853174T>CCA371325250CHD7c.6449T>C (p.Phe2150Ser)
c.1717-9055T>C (n.1717-9055T>C)
c.6539T>C (p.Phe2180Ser)
c.4526T>C (p.Phe1509Ser)
c.4076T>C (p.Phe1359Ser)
c.3284T>C (p.Phe1095Ser)
8g.60853174T>GCA371325252CHD7c.6449T>G (p.Phe2150Cys)
c.1717-9055T>G (n.1717-9055T>G)
c.6539T>G (p.Phe2180Cys)
c.4526T>G (p.Phe1509Cys)
c.4076T>G (p.Phe1359Cys)
c.3284T>G (p.Phe1095Cys)
8g.60853175T>ACA371325254CHD7c.6450T>A (p.Phe2150Leu)
c.1717-9054T>A (n.1717-9054T>A)
c.6540T>A (p.Phe2180Leu)
c.4527T>A (p.Phe1509Leu)
c.4077T>A (p.Phe1359Leu)
c.3285T>A (p.Phe1095Leu)
 ClinVar
8g.60853175T>CCA461105453CHD7c.6450T>C (p.Phe2150=)
c.1717-9054T>C (n.1717-9054T>C)
c.6540T>C (p.Phe2180=)
c.4527T>C (p.Phe1509=)
c.4077T>C (p.Phe1359=)
c.3285T>C (p.Phe1095=)
8g.60853175T>GCA371325256CHD7c.6450T>G (p.Phe2150Leu)
c.1717-9054T>G (n.1717-9054T>G)
c.6540T>G (p.Phe2180Leu)
c.4527T>G (p.Phe1509Leu)
c.4077T>G (p.Phe1359Leu)
c.3285T>G (p.Phe1095Leu)
8g.60853176G>ACA371325259CHD7c.6451G>A (p.Val2151Ile)
c.1717-9053G>A (n.1717-9053G>A)
c.6541G>A (p.Val2181Ile)
c.4528G>A (p.Val1510Ile)
c.4078G>A (p.Val1360Ile)
c.3286G>A (p.Val1096Ile)
 dbSNP
8g.60853176G>CCA371325260CHD7c.6451G>C (p.Val2151Leu)
c.1717-9053G>C (n.1717-9053G>C)
c.6541G>C (p.Val2181Leu)
c.4528G>C (p.Val1510Leu)
c.4078G>C (p.Val1360Leu)
c.3286G>C (p.Val1096Leu)
8g.60853176G=CA1788103916CHD7c.6451G= (p.Val2151=)
c.1717-9053G= (n.1717-9053G=)
c.6541G= (p.Val2181=)
c.4528G= (p.Val1510=)
c.4078G= (p.Val1360=)
c.3286G= (p.Val1096=)
8g.60853176G>TCA371325263CHD7c.6451G>T (p.Val2151Phe)
c.1717-9053G>T (n.1717-9053G>T)
c.6541G>T (p.Val2181Phe)
c.4528G>T (p.Val1510Phe)
c.4078G>T (p.Val1360Phe)
c.3286G>T (p.Val1096Phe)
8g.60853177T>ACA371325269CHD7c.6452T>A (p.Val2151Asp)
c.1717-9052T>A (n.1717-9052T>A)
c.6542T>A (p.Val2181Asp)
c.4529T>A (p.Val1510Asp)
c.4079T>A (p.Val1360Asp)
c.3287T>A (p.Val1096Asp)
8g.60853177T>CCA371325268CHD7c.6452T>C (p.Val2151Ala)
c.1717-9052T>C (n.1717-9052T>C)
c.6542T>C (p.Val2181Ala)
c.4529T>C (p.Val1510Ala)
c.4079T>C (p.Val1360Ala)
c.3287T>C (p.Val1096Ala)
 gnomAD v4
8g.60853177T>GCA371325265CHD7c.6452T>G (p.Val2151Gly)
c.1717-9052T>G (n.1717-9052T>G)
c.6542T>G (p.Val2181Gly)
c.4529T>G (p.Val1510Gly)
c.4079T>G (p.Val1360Gly)
c.3287T>G (p.Val1096Gly)
8g.60853178C>ACA461105461CHD7c.6453C>A (p.Val2151=)
c.1717-9051C>A (n.1717-9051C>A)
c.6543C>A (p.Val2181=)
c.4530C>A (p.Val1510=)
c.4080C>A (p.Val1360=)
c.3288C>A (p.Val1096=)
8g.60853178C=CA1788103921CHD7c.6453C= (p.Val2151=)
c.1717-9051C= (n.1717-9051C=)
c.6543C= (p.Val2181=)
c.4530C= (p.Val1510=)
c.4080C= (p.Val1360=)
c.3288C= (p.Val1096=)
8g.60853178C>GCA4760590CHD7c.6453C>G (p.Val2151=)
c.1717-9051C>G (n.1717-9051C>G)
c.6543C>G (p.Val2181=)
c.4530C>G (p.Val1510=)
c.4080C>G (p.Val1360=)
c.3288C>G (p.Val1096=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853178C>TCA4760589CHD7c.6453C>T (p.Val2151=)
c.1717-9051C>T (n.1717-9051C>T)
c.6543C>T (p.Val2181=)
c.4530C>T (p.Val1510=)
c.4080C>T (p.Val1360=)
c.3288C>T (p.Val1096=)
 dbSNP ExAC gnomAD v2 COSMIC
8g.60853179C>ACA371325274CHD7c.6454C>A (p.Gln2152Lys)
c.1717-9050C>A (n.1717-9050C>A)
c.6544C>A (p.Gln2182Lys)
c.4531C>A (p.Gln1511Lys)
c.4081C>A (p.Gln1361Lys)
c.3289C>A (p.Gln1097Lys)
8g.60853179C=CA1788103927CHD7c.6454C= (p.Gln2152=)
c.1717-9050C= (n.1717-9050C=)
c.6544C= (p.Gln2182=)
c.4531C= (p.Gln1511=)
c.4081C= (p.Gln1361=)
c.3289C= (p.Gln1097=)
8g.60853179C>GCA4760591CHD7c.6454C>G (p.Gln2152Glu)
c.1717-9050C>G (n.1717-9050C>G)
c.6544C>G (p.Gln2182Glu)
c.4531C>G (p.Gln1511Glu)
c.4081C>G (p.Gln1361Glu)
c.3289C>G (p.Gln1097Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853179C>TCA371325277CHD7c.6454C>T (p.Gln2152Ter)
c.1717-9050C>T (n.1717-9050C>T)
c.6544C>T (p.Gln2182Ter)
c.4531C>T (p.Gln1511Ter)
c.4081C>T (p.Gln1361Ter)
c.3289C>T (p.Gln1097Ter)
 ClinVar dbSNP
8g.60853180A>CCA371325279CHD7c.6455A>C (p.Gln2152Pro)
c.1717-9049A>C (n.1717-9049A>C)
c.6545A>C (p.Gln2182Pro)
c.4532A>C (p.Gln1511Pro)
c.4082A>C (p.Gln1361Pro)
c.3290A>C (p.Gln1097Pro)
8g.60853180A>GCA371325282CHD7c.6455A>G (p.Gln2152Arg)
c.1717-9049A>G (n.1717-9049A>G)
c.6545A>G (p.Gln2182Arg)
c.4532A>G (p.Gln1511Arg)
c.4082A>G (p.Gln1361Arg)
c.3290A>G (p.Gln1097Arg)
8g.60853180A>TCA371325283CHD7c.6455A>T (p.Gln2152Leu)
c.1717-9049A>T (n.1717-9049A>T)
c.6545A>T (p.Gln2182Leu)
c.4532A>T (p.Gln1511Leu)
c.4082A>T (p.Gln1361Leu)
c.3290A>T (p.Gln1097Leu)
8g.60853181G>ACA461105043CHD7c.6456G>A (p.Gln2152=)
c.1717-9048G>A (n.1717-9048G>A)
c.6546G>A (p.Gln2182=)
c.4533G>A (p.Gln1511=)
c.4083G>A (p.Gln1361=)
c.3291G>A (p.Gln1097=)
8g.60853181G>CCA4760592CHD7c.6456G>C (p.Gln2152His)
c.1717-9048G>C (n.1717-9048G>C)
c.6546G>C (p.Gln2182His)
c.4533G>C (p.Gln1511His)
c.4083G>C (p.Gln1361His)
c.3291G>C (p.Gln1097His)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853181G=CA1788103953CHD7c.6456G= (p.Gln2152=)
c.1717-9048G= (n.1717-9048G=)
c.6546G= (p.Gln2182=)
c.4533G= (p.Gln1511=)
c.4083G= (p.Gln1361=)
c.3291G= (p.Gln1097=)
8g.60853181G>TCA371325287CHD7c.6456G>T (p.Gln2152His)
c.1717-9048G>T (n.1717-9048G>T)
c.6546G>T (p.Gln2182His)
c.4533G>T (p.Gln1511His)
c.4083G>T (p.Gln1361His)
c.3291G>T (p.Gln1097His)
 ClinVar gnomAD v4
8g.60853182A=CA1788103973CHD7c.6457A= (p.Thr2153=)
c.1717-9047A= (n.1717-9047A=)
c.6547A= (p.Thr2183=)
c.4534A= (p.Thr1512=)
c.4084A= (p.Thr1362=)
c.3292A= (p.Thr1098=)
8g.60853182A>CCA371325291CHD7c.6457A>C (p.Thr2153Pro)
c.1717-9047A>C (n.1717-9047A>C)
c.6547A>C (p.Thr2183Pro)
c.4534A>C (p.Thr1512Pro)
c.4084A>C (p.Thr1362Pro)
c.3292A>C (p.Thr1098Pro)
8g.60853182A>GCA371325293CHD7c.6457A>G (p.Thr2153Ala)
c.1717-9047A>G (n.1717-9047A>G)
c.6547A>G (p.Thr2183Ala)
c.4534A>G (p.Thr1512Ala)
c.4084A>G (p.Thr1362Ala)
c.3292A>G (p.Thr1098Ala)
 dbSNP
8g.60853182A>TCA371325294CHD7c.6457A>T (p.Thr2153Ser)
c.1717-9047A>T (n.1717-9047A>T)
c.6547A>T (p.Thr2183Ser)
c.4534A>T (p.Thr1512Ser)
c.4084A>T (p.Thr1362Ser)
c.3292A>T (p.Thr1098Ser)
8g.60853183C>ACA371325298CHD7c.6458C>A (p.Thr2153Asn)
c.1717-9046C>A (n.1717-9046C>A)
c.6548C>A (p.Thr2183Asn)
c.4535C>A (p.Thr1512Asn)
c.4085C>A (p.Thr1362Asn)
c.3293C>A (p.Thr1098Asn)
8g.60853183C>GCA371325301CHD7c.6458C>G (p.Thr2153Ser)
c.1717-9046C>G (n.1717-9046C>G)
c.6548C>G (p.Thr2183Ser)
c.4535C>G (p.Thr1512Ser)
c.4085C>G (p.Thr1362Ser)
c.3293C>G (p.Thr1098Ser)
8g.60853183C>TCA371325296CHD7c.6458C>T (p.Thr2153Ile)
c.1717-9046C>T (n.1717-9046C>T)
c.6548C>T (p.Thr2183Ile)
c.4535C>T (p.Thr1512Ile)
c.4085C>T (p.Thr1362Ile)
c.3293C>T (p.Thr1098Ile)
8g.60853184T>ACA461105044CHD7c.6459T>A (p.Thr2153=)
c.1717-9045T>A (n.1717-9045T>A)
c.6549T>A (p.Thr2183=)
c.4536T>A (p.Thr1512=)
c.4086T>A (p.Thr1362=)
c.3294T>A (p.Thr1098=)
8g.60853184T>CCA461105045CHD7c.6459T>C (p.Thr2153=)
c.1717-9045T>C (n.1717-9045T>C)
c.6549T>C (p.Thr2183=)
c.4536T>C (p.Thr1512=)
c.4086T>C (p.Thr1362=)
c.3294T>C (p.Thr1098=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853184T>GCA461105046CHD7c.6459T>G (p.Thr2153=)
c.1717-9045T>G (n.1717-9045T>G)
c.6549T>G (p.Thr2183=)
c.4536T>G (p.Thr1512=)
c.4086T>G (p.Thr1362=)
c.3294T>G (p.Thr1098=)
 gnomAD v4
8g.60853184T=CA1788103977CHD7c.6459T= (p.Thr2153=)
c.1717-9045T= (n.1717-9045T=)
c.6549T= (p.Thr2183=)
c.4536T= (p.Thr1512=)
c.4086T= (p.Thr1362=)
c.3294T= (p.Thr1098=)
8g.60853185C>ACA371325303CHD7c.6460C>A (p.Pro2154Thr)
c.1717-9044C>A (n.1717-9044C>A)
c.6550C>A (p.Pro2184Thr)
c.4537C>A (p.Pro1513Thr)
c.4087C>A (p.Pro1363Thr)
c.3295C>A (p.Pro1099Thr)
8g.60853185C>GCA371325305CHD7c.6460C>G (p.Pro2154Ala)
c.1717-9044C>G (n.1717-9044C>G)
c.6550C>G (p.Pro2184Ala)
c.4537C>G (p.Pro1513Ala)
c.4087C>G (p.Pro1363Ala)
c.3295C>G (p.Pro1099Ala)
8g.60853185C>TCA371325308CHD7c.6460C>T (p.Pro2154Ser)
c.1717-9044C>T (n.1717-9044C>T)
c.6550C>T (p.Pro2184Ser)
c.4537C>T (p.Pro1513Ser)
c.4087C>T (p.Pro1363Ser)
c.3295C>T (p.Pro1099Ser)
8g.60853186delCA2695209424CHD7c.6461del (p.Pro2154LeufsTer?)
c.1717-9043del (n.1717-9043del)
c.6551del (p.Pro2184LeufsTer?)
c.4538del (p.Pro1513LeufsTer?)
c.4088del (p.Pro1363LeufsTer?)
c.3296del (p.Pro1099LeufsTer?)
8g.60853186C>ACA371325310CHD7c.6461C>A (p.Pro2154His)
c.1717-9043C>A (n.1717-9043C>A)
c.6551C>A (p.Pro2184His)
c.4538C>A (p.Pro1513His)
c.4088C>A (p.Pro1363His)
c.3296C>A (p.Pro1099His)
8g.60853186C=CA1788103984CHD7c.6461C= (p.Pro2154=)
c.1717-9043C= (n.1717-9043C=)
c.6551C= (p.Pro2184=)
c.4538C= (p.Pro1513=)
c.4088C= (p.Pro1363=)
c.3296C= (p.Pro1099=)
8g.60853186C>GCA371325312CHD7c.6461C>G (p.Pro2154Arg)
c.1717-9043C>G (n.1717-9043C>G)
c.6551C>G (p.Pro2184Arg)
c.4538C>G (p.Pro1513Arg)
c.4088C>G (p.Pro1363Arg)
c.3296C>G (p.Pro1099Arg)
8g.60853186C>TCA371325314CHD7c.6461C>T (p.Pro2154Leu)
c.1717-9043C>T (n.1717-9043C>T)
c.6551C>T (p.Pro2184Leu)
c.4538C>T (p.Pro1513Leu)
c.4088C>T (p.Pro1363Leu)
c.3296C>T (p.Pro1099Leu)
 ClinVar dbSNP
8g.60853186delinsTTCA2695209425CHD7c.6461delinsTT (p.Pro2154LeufsTer12)
c.1717-9043delinsTT (n.1717-9043delinsTT)
c.6551delinsTT (p.Pro2184LeufsTer12)
c.4538delinsTT (p.Pro1513LeufsTer12)
c.4088delinsTT (p.Pro1363LeufsTer12)
c.3296delinsTT (p.Pro1099LeufsTer12)
8g.60853187T>ACA461105047CHD7c.6462T>A (p.Pro2154=)
c.1717-9042T>A (n.1717-9042T>A)
c.6552T>A (p.Pro2184=)
c.4539T>A (p.Pro1513=)
c.4089T>A (p.Pro1363=)
c.3297T>A (p.Pro1099=)
 gnomAD v4
8g.60853187T>CCA461105048CHD7c.6462T>C (p.Pro2154=)
c.1717-9042T>C (n.1717-9042T>C)
c.6552T>C (p.Pro2184=)
c.4539T>C (p.Pro1513=)
c.4089T>C (p.Pro1363=)
c.3297T>C (p.Pro1099=)
8g.60853187T>GCA461105049CHD7c.6462T>G (p.Pro2154=)
c.1717-9042T>G (n.1717-9042T>G)
c.6552T>G (p.Pro2184=)
c.4539T>G (p.Pro1513=)
c.4089T>G (p.Pro1363=)
c.3297T>G (p.Pro1099=)
8g.60853188C>ACA371325315CHD7c.6463C>A (p.Pro2155Thr)
c.1717-9041C>A (n.1717-9041C>A)
c.6553C>A (p.Pro2185Thr)
c.4540C>A (p.Pro1514Thr)
c.4090C>A (p.Pro1364Thr)
c.3298C>A (p.Pro1100Thr)
8g.60853188C=CA1788103993CHD7c.6463C= (p.Pro2155=)
c.1717-9041C= (n.1717-9041C=)
c.6553C= (p.Pro2185=)
c.4540C= (p.Pro1514=)
c.4090C= (p.Pro1364=)
c.3298C= (p.Pro1100=)
8g.60853188C>GCA371325317CHD7c.6463C>G (p.Pro2155Ala)
c.1717-9041C>G (n.1717-9041C>G)
c.6553C>G (p.Pro2185Ala)
c.4540C>G (p.Pro1514Ala)
c.4090C>G (p.Pro1364Ala)
c.3298C>G (p.Pro1100Ala)
8g.60853188C>TCA371325318CHD7c.6463C>T (p.Pro2155Ser)
c.1717-9041C>T (n.1717-9041C>T)
c.6553C>T (p.Pro2185Ser)
c.4540C>T (p.Pro1514Ser)
c.4090C>T (p.Pro1364Ser)
c.3298C>T (p.Pro1100Ser)
 ClinVar dbSNP
8g.60853189C>ACA371325320CHD7c.6464C>A (p.Pro2155Gln)
c.1717-9040C>A (n.1717-9040C>A)
c.6554C>A (p.Pro2185Gln)
c.4541C>A (p.Pro1514Gln)
c.4091C>A (p.Pro1364Gln)
c.3299C>A (p.Pro1100Gln)
8g.60853189C=CA1788103998CHD7c.6464C= (p.Pro2155=)
c.1717-9040C= (n.1717-9040C=)
c.6554C= (p.Pro2185=)
c.4541C= (p.Pro1514=)
c.4091C= (p.Pro1364=)
c.3299C= (p.Pro1100=)
8g.60853189C>GCA371325322CHD7c.6464C>G (p.Pro2155Arg)
c.1717-9040C>G (n.1717-9040C>G)
c.6554C>G (p.Pro2185Arg)
c.4541C>G (p.Pro1514Arg)
c.4091C>G (p.Pro1364Arg)
c.3299C>G (p.Pro1100Arg)
8g.60853189C>TCA4760593CHD7c.6464C>T (p.Pro2155Leu)
c.1717-9040C>T (n.1717-9040C>T)
c.6554C>T (p.Pro2185Leu)
c.4541C>T (p.Pro1514Leu)
c.4091C>T (p.Pro1364Leu)
c.3299C>T (p.Pro1100Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853190A>CCA461105052CHD7c.6465A>C (p.Pro2155=)
c.1717-9039A>C (n.1717-9039A>C)
c.6555A>C (p.Pro2185=)
c.4542A>C (p.Pro1514=)
c.4092A>C (p.Pro1364=)
c.3300A>C (p.Pro1100=)
8g.60853190A>GCA461105051CHD7c.6465A>G (p.Pro2155=)
c.1717-9039A>G (n.1717-9039A>G)
c.6555A>G (p.Pro2185=)
c.4542A>G (p.Pro1514=)
c.4092A>G (p.Pro1364=)
c.3300A>G (p.Pro1100=)
8g.60853190A>TCA461105050CHD7c.6465A>T (p.Pro2155=)
c.1717-9039A>T (n.1717-9039A>T)
c.6555A>T (p.Pro2185=)
c.4542A>T (p.Pro1514=)
c.4092A>T (p.Pro1364=)
c.3300A>T (p.Pro1100=)
8g.60853191G>ACA371325328CHD7c.6466G>A (p.Val2156Ile)
c.1717-9038G>A (n.1717-9038G>A)
c.6556G>A (p.Val2186Ile)
c.4543G>A (p.Val1515Ile)
c.4093G>A (p.Val1365Ile)
c.3301G>A (p.Val1101Ile)
 ClinVar
8g.60853191G>CCA371325325CHD7c.6466G>C (p.Val2156Leu)
c.1717-9038G>C (n.1717-9038G>C)
c.6556G>C (p.Val2186Leu)
c.4543G>C (p.Val1515Leu)
c.4093G>C (p.Val1365Leu)
c.3301G>C (p.Val1101Leu)
8g.60853191G>TCA371325324CHD7c.6466G>T (p.Val2156Phe)
c.1717-9038G>T (n.1717-9038G>T)
c.6556G>T (p.Val2186Phe)
c.4543G>T (p.Val1515Phe)
c.4093G>T (p.Val1365Phe)
c.3301G>T (p.Val1101Phe)
 gnomAD v4
8g.60853192T>ACA371325330CHD7c.6467T>A (p.Val2156Asp)
c.1717-9037T>A (n.1717-9037T>A)
c.6557T>A (p.Val2186Asp)
c.4544T>A (p.Val1515Asp)
c.4094T>A (p.Val1365Asp)
c.3302T>A (p.Val1101Asp)
8g.60853192T>CCA371325334CHD7c.6467T>C (p.Val2156Ala)
c.1717-9037T>C (n.1717-9037T>C)
c.6557T>C (p.Val2186Ala)
c.4544T>C (p.Val1515Ala)
c.4094T>C (p.Val1365Ala)
c.3302T>C (p.Val1101Ala)
8g.60853192T>GCA371325336CHD7c.6467T>G (p.Val2156Gly)
c.1717-9037T>G (n.1717-9037T>G)
c.6557T>G (p.Val2186Gly)
c.4544T>G (p.Val1515Gly)
c.4094T>G (p.Val1365Gly)
c.3302T>G (p.Val1101Gly)
8g.60853193C>ACA461105053CHD7c.6468C>A (p.Val2156=)
c.1717-9036C>A (n.1717-9036C>A)
c.6558C>A (p.Val2186=)
c.4545C>A (p.Val1515=)
c.4095C>A (p.Val1365=)
c.3303C>A (p.Val1101=)
 gnomAD v4
8g.60853193C=CA1788104007CHD7c.6468C= (p.Val2156=)
c.1717-9036C= (n.1717-9036C=)
c.6558C= (p.Val2186=)
c.4545C= (p.Val1515=)
c.4095C= (p.Val1365=)
c.3303C= (p.Val1101=)
8g.60853193C>GCA461105054CHD7c.6468C>G (p.Val2156=)
c.1717-9036C>G (n.1717-9036C>G)
c.6558C>G (p.Val2186=)
c.4545C>G (p.Val1515=)
c.4095C>G (p.Val1365=)
c.3303C>G (p.Val1101=)
 ClinVar gnomAD v4
8g.60853193C>TCA4760594CHD7c.6468C>T (p.Val2156=)
c.1717-9036C>T (n.1717-9036C>T)
c.6558C>T (p.Val2186=)
c.4545C>T (p.Val1515=)
c.4095C>T (p.Val1365=)
c.3303C>T (p.Val1101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853194A=CA1788104014CHD7c.6469A= (p.Ile2157=)
c.1717-9035A= (n.1717-9035A=)
c.6559A= (p.Ile2187=)
c.4546A= (p.Ile1516=)
c.4096A= (p.Ile1366=)
c.3304A= (p.Ile1102=)
8g.60853194A>CCA371325340CHD7c.6469A>C (p.Ile2157Leu)
c.1717-9035A>C (n.1717-9035A>C)
c.6559A>C (p.Ile2187Leu)
c.4546A>C (p.Ile1516Leu)
c.4096A>C (p.Ile1366Leu)
c.3304A>C (p.Ile1102Leu)
8g.60853194A>GCA10631416CHD7c.6469A>G (p.Ile2157Val)
c.1717-9035A>G (n.1717-9035A>G)
c.6559A>G (p.Ile2187Val)
c.4546A>G (p.Ile1516Val)
c.4096A>G (p.Ile1366Val)
c.3304A>G (p.Ile1102Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60853194A>TCA371325343CHD7c.6469A>T (p.Ile2157Phe)
c.1717-9035A>T (n.1717-9035A>T)
c.6559A>T (p.Ile2187Phe)
c.4546A>T (p.Ile1516Phe)
c.4096A>T (p.Ile1366Phe)
c.3304A>T (p.Ile1102Phe)
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)

Number of alleles fetched