Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.117835493A>CCA371892258EXT1n.582T>G
c.1115T>G (p.Ile372Ser)
c.483T>G
c.*6T>G (n.*6T>G)
8g.117835493A>GCA371892268EXT1n.582T>C
c.1115T>C (p.Ile372Thr)
c.483T>C
c.*6T>C (n.*6T>C)
8g.117835493A>TCA371892264EXT1n.582T>A
c.1115T>A (p.Ile372Asn)
c.483T>A
c.*6T>A (n.*6T>A)
8g.117835494T>ACA371892282EXT1n.581A>T
c.1114A>T (p.Ile372Phe)
c.482A>T
c.*5A>T (n.*5A>T)
8g.117835494T>CCA371892287EXT1n.581A>G
c.1114A>G (p.Ile372Val)
c.482A>G
c.*5A>G (n.*5A>G)
8g.117835494T>GCA371892295EXT1n.581A>C
c.1114A>C (p.Ile372Leu)
c.482A>C
c.*5A>C (n.*5A>C)
8g.117835495C>ACA462468826EXT1n.580G>T
c.1113G>T (p.Val371=)
c.481G>T
c.*4G>T (n.*4G>T)
8g.117835495C=CA1813956696EXT1n.580G=
c.1113G= (p.Val371=)
c.481G=
c.*4G= (n.*4G=)
8g.117835495C>GCA462468827EXT1n.580G>C
c.1113G>C (p.Val371=)
c.481G>C
c.*4G>C (n.*4G>C)
 dbSNP
8g.117835495C>TCA462468828EXT1n.580G>A
c.1113G>A (p.Val371=)
c.481G>A
c.*4G>A (n.*4G>A)
 gnomAD v4
8g.117835496delCA2695210030EXT1n.579del
c.1112del (p.Val371GlyfsTer10)
c.480del
c.*3del (n.*3del)
8g.117835496A>CCA371892303EXT1n.579T>G
c.1112T>G (p.Val371Gly)
c.480T>G
c.*3T>G (n.*3T>G)
8g.117835496A>GCA371892306EXT1n.579T>C
c.1112T>C (p.Val371Ala)
c.480T>C
c.*3T>C (n.*3T>C)
 gnomAD v4
8g.117835496A>TCA371892308EXT1n.579T>A
c.1112T>A (p.Val371Glu)
c.480T>A
c.*3T>A (n.*3T>A)
8g.117835497C>ACA371892312EXT1n.578G>T
c.1111G>T (p.Val371Leu)
c.479G>T
c.*2G>T (n.*2G>T)
 dbSNP gnomAD v4
8g.117835497C=CA1813956697EXT1n.578G=
c.1111G= (p.Val371=)
c.479G=
c.*2G= (n.*2G=)
8g.117835497C>GCA371892319EXT1n.578G>C
c.1111G>C (p.Val371Leu)
c.479G>C
c.*2G>C (n.*2G>C)
8g.117835497C>TCA371892324EXT1n.578G>A
c.1111G>A (p.Val371Met)
c.479G>A
c.*2G>A (n.*2G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.117835498T>ACA371892332EXT1n.577A>T
c.1110A>T (p.Glu370Asp)
c.478A>T
c.*1A>T (n.*1A>T)
8g.117835498T>CCA462468829EXT1n.577A>G
c.1110A>G (p.Glu370=)
c.478A>G
c.*1A>G (n.*1A>G)
8g.117835498T>GCA371892335EXT1n.577A>C
c.1110A>C (p.Glu370Asp)
c.478A>C
c.*1A>C (n.*1A>C)
8g.117835499T>ACA371892340EXT1n.576A>T
c.1109A>T (p.Glu370Val)
c.477A>T
c.126A>T (p.Ter42Cys)
8g.117835499T>CCA371892345EXT1n.576A>G
c.1109A>G (p.Glu370Gly)
c.477A>G
c.126A>G (p.Ter42Trp)
8g.117835499T>GCA371892344EXT1n.576A>C
c.1109A>C (p.Glu370Ala)
c.477A>C
c.126A>C (p.Ter42Cys)
8g.117835500C>ACA371892346EXT1n.575G>T
c.1108G>T (p.Glu370Ter)
c.476G>T
c.125G>T (p.Ter42Leu)
 ClinVar dbSNP
8g.117835500C=CA1813956698EXT1n.575G=
c.1108G= (p.Glu370=)
c.476G=
c.125G= (p.Ter42=)
8g.117835500C>GCA371892364EXT1n.575G>C
c.1108G>C (p.Glu370Gln)
c.476G>C
c.125G>C (p.Ter42Ser)
 gnomAD v4
8g.117835500C>TCA371892349EXT1n.575G>A
c.1108G>A (p.Glu370Lys)
c.476G>A
c.125G>A (p.Ter42=)
8g.117835501A>CCA462468830EXT1n.574T>G
c.1107T>G (p.Ser369=)
c.475T>G
c.124T>G (p.Ter42Gly)
8g.117835501A>GCA462468831EXT1n.574T>C
c.1107T>C (p.Ser369=)
c.475T>C
c.124T>C (p.Ter42Arg)
 gnomAD v4
8g.117835501A>TCA462468832EXT1n.574T>A
c.1107T>A (p.Ser369=)
c.475T>A
c.124T>A (p.Ter42Arg)
8g.117835502G>ACA371892381EXT1n.573C>T
c.1106C>T (p.Ser369Phe)
c.474C>T
c.123C>T (p.Leu41=)
 gnomAD v4
8g.117835502G>CCA371892382EXT1n.573C>G
c.1106C>G (p.Ser369Cys)
c.474C>G
c.123C>G (p.Leu41=)
8g.117835502G>TCA371892383EXT1n.573C>A
c.1106C>A (p.Ser369Tyr)
c.474C>A
c.123C>A (p.Leu41=)
8g.117835503A>CCA371892388EXT1n.572T>G
c.1105T>G (p.Ser369Ala)
c.473T>G
c.122T>G (p.Leu41Arg)
8g.117835503A>GCA371892391EXT1n.572T>C
c.1105T>C (p.Ser369Pro)
c.473T>C
c.122T>C (p.Leu41Pro)
8g.117835503A>TCA371892395EXT1n.572T>A
c.1105T>A (p.Ser369Thr)
c.473T>A
c.122T>A (p.Leu41His)
8g.117835504G>ACA462468834EXT1n.571C>T
c.1104C>T (p.Phe368=)
c.472C>T
c.121C>T (p.Leu41Phe)
8g.117835504G>CCA371892400EXT1n.571C>G
c.1104C>G (p.Phe368Leu)
c.472C>G
c.121C>G (p.Leu41Val)
8g.117835504G>TCA371892405EXT1n.571C>A
c.1104C>A (p.Phe368Leu)
c.472C>A
c.121C>A (p.Leu41Ile)
8g.117835505A>CCA371892410EXT1n.570T>G
c.1103T>G (p.Phe368Cys)
c.471T>G
c.120T>G (p.Ile40Met)
8g.117835505A>GCA371892414EXT1n.570T>C
c.1103T>C (p.Phe368Ser)
c.471T>C
c.120T>C (p.Ile40=)
8g.117835505A>TCA371892418EXT1n.570T>A
c.1103T>A (p.Phe368Tyr)
c.471T>A
c.120T>A (p.Ile40=)
8g.117835506A>CCA371892429EXT1n.569T>G
c.1102T>G (p.Phe368Val)
c.470T>G
c.119T>G (p.Ile40Ser)
8g.117835506A>GCA371892427EXT1n.569T>C
c.1102T>C (p.Phe368Leu)
c.470T>C
c.119T>C (p.Ile40Thr)
8g.117835506A>TCA371892424EXT1n.569T>A
c.1102T>A (p.Phe368Ile)
c.470T>A
c.119T>A (p.Ile40Asn)
 COSMIC
8g.117835507T>ACA462468838EXT1n.568A>T
c.1101A>T (p.Pro367=)
c.469A>T
c.118A>T (p.Ile40Phe)
8g.117835507T>CCA184296600EXT1n.568A>G
c.1101A>G (p.Pro367=)
c.469A>G
c.118A>G (p.Ile40Val)
 ClinVar dbSNP gnomAD v4
8g.117835507T>GCA462468837EXT1n.568A>C
c.1101A>C (p.Pro367=)
c.469A>C
c.118A>C (p.Ile40Leu)
 dbSNP
8g.117835507T=CA1813956699EXT1n.568A=
c.1101A= (p.Pro367=)
c.469A=
c.118A= (p.Ile40=)
8g.117835507dupCA2695210031EXT1n.568dup
c.1101dup (p.Phe368IlefsTer3)
c.469dup
c.118dup (p.Ile40AsnfsTer5)
8g.117835508G>ACA371892437EXT1n.567C>T
c.1100C>T (p.Pro367Leu)
c.468C>T
c.117C>T (p.Ala39=)
 dbSNP
8g.117835508G>CCA371892440EXT1n.567C>G
c.1100C>G (p.Pro367Arg)
c.468C>G
c.117C>G (p.Ala39=)
8g.117835508G>TCA371892446EXT1n.567C>A
c.1100C>A (p.Pro367Gln)
c.468C>A
c.117C>A (p.Ala39=)
8g.117835508_117835516delinsTGCTGAGCAATTTCTGAGCA2695210032EXT1n.559_567delinsCTCAGAAATTGCTCAGCA
c.1092_1100delinsCTCAGAAATTGCTCAGCA (p.Trp364_Pro367delinsCysSerGluIleAlaGlnGln)
c.460_468delinsCTCAGAAATTGCTCAGCA
c.109_117delinsCTCAGAAATTGCTCAGCA (p.Gly37_Val38delinsLeuArgAsnCysSer)
8g.117835509G>ACA371892450EXT1n.566C>T
c.1099C>T (p.Pro367Ser)
c.467C>T
c.116C>T (p.Ala39Val)
8g.117835509G>CCA371892452EXT1n.566C>G
c.1099C>G (p.Pro367Ala)
c.467C>G
c.116C>G (p.Ala39Gly)
 gnomAD v4
8g.117835509G=CA1813956700EXT1n.566C=
c.1099C= (p.Pro367=)
c.467C=
c.116C= (p.Ala39=)
8g.117835509G>TCA371892454EXT1n.566C>A
c.1099C>A (p.Pro367Thr)
c.467C>A
c.116C>A (p.Ala39Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835510C>ACA371892460EXT1n.565G>T
c.1098G>T (p.Leu366Phe)
c.466G>T
c.115G>T (p.Ala39Ser)
8g.117835510C=CA1813956701EXT1n.565G=
c.1098G= (p.Leu366=)
c.466G=
c.115G= (p.Ala39=)
8g.117835510C>GCA371892463EXT1n.565G>C
c.1098G>C (p.Leu366Phe)
c.466G>C
c.115G>C (p.Ala39Pro)
8g.117835510C>TCA4854236EXT1n.565G>A
c.1098G>A (p.Leu366=)
c.466G>A
c.115G>A (p.Ala39Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835511A>CCA371892466EXT1n.564T>G
c.1097T>G (p.Leu366Trp)
c.465T>G
c.114T>G (p.Val38=)
8g.117835511A>GCA371892469EXT1n.564T>C
c.1097T>C (p.Leu366Ser)
c.465T>C
c.114T>C (p.Val38=)
8g.117835511A>TCA371892478EXT1n.564T>A
c.1097T>A (p.Leu366Ter)
c.465T>A
c.114T>A (p.Val38=)
8g.117835512delCA2695210033EXT1n.564del
c.1097del (p.Leu366CysfsTer6)
c.465del
c.114del (p.Ala39ProfsTer?)
8g.117835512A>CCA371892486EXT1n.563T>G
c.1096T>G (p.Leu366Val)
c.464T>G
c.113T>G (p.Val38Gly)
8g.117835512A>GCA462468842EXT1n.563T>C
c.1096T>C (p.Leu366=)
c.464T>C
c.113T>C (p.Val38Ala)
8g.117835512A>TCA371892489EXT1n.563T>A
c.1096T>A (p.Leu366Met)
c.464T>A
c.113T>A (p.Val38Asp)
8g.117835513C>ACA371892497EXT1n.562G>T
c.1095G>T (p.Glu365Asp)
c.463G>T
c.112G>T (p.Val38Phe)
8g.117835513C=CA1813956702EXT1n.562G=
c.1095G= (p.Glu365=)
c.463G=
c.112G= (p.Val38=)
8g.117835513C>GCA371892501EXT1n.562G>C
c.1095G>C (p.Glu365Asp)
c.463G>C
c.112G>C (p.Val38Leu)
8g.117835513C>TCA462468843EXT1n.562G>A
c.1095G>A (p.Glu365=)
c.463G>A
c.112G>A (p.Val38Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.117835514T>ACA371892507EXT1n.561A>T
c.1094A>T (p.Glu365Val)
c.462A>T
c.111A>T (p.Gly37=)
8g.117835514T>CCA371892509EXT1n.561A>G
c.1094A>G (p.Glu365Gly)
c.462A>G
c.111A>G (p.Gly37=)
8g.117835514T>GCA371892512EXT1n.561A>C
c.1094A>C (p.Glu365Ala)
c.462A>C
c.111A>C (p.Gly37=)
8g.117835515C>ACA371892541EXT1n.560G>T
c.1093G>T (p.Glu365Ter)
c.461G>T
c.110G>T (p.Gly37Val)
8g.117835515C=CA1813956703EXT1n.560G=
c.1093G= (p.Glu365=)
c.461G=
c.110G= (p.Gly37=)
8g.117835515C>GCA371892536EXT1n.560G>C
c.1093G>C (p.Glu365Gln)
c.461G>C
c.110G>C (p.Gly37Ala)
8g.117835515C>TCA184296611EXT1n.560G>A
c.1093G>A (p.Glu365Lys)
c.461G>A
c.110G>A (p.Gly37Glu)
 ClinVar dbSNP gnomAD v4
8g.117835516_117835517dupCA2695210034EXT1n.559_560dup
c.1092_1093dup (p.Glu365GlyfsTer8)
c.460_461dup
c.109_110dup (p.Val38GlufsTer?)
8g.117835517delCA2695210035EXT1n.560del
c.1093del (p.Glu365SerfsTer7)
c.461del
c.110del (p.Gly37GlufsTer?)
8g.117835516C>ACA371892549EXT1n.559G>T
c.1092G>T (p.Trp364Cys)
c.460G>T
c.109G>T (p.Gly37Ter)
8g.117835516C=CA1813956704EXT1n.559G=
c.1092G= (p.Trp364=)
c.460G=
c.109G= (p.Gly37=)
8g.117835516C>GCA371892553EXT1n.559G>C
c.1092G>C (p.Trp364Cys)
c.460G>C
c.109G>C (p.Gly37Arg)
8g.117835516C>TCA371892557EXT1n.559G>A
c.1092G>A (p.Trp364Ter)
c.460G>A
c.109G>A (p.Gly37Arg)
 ClinVar dbSNP
8g.117835517C>ACA371892563EXT1n.558G>T
c.1091G>T (p.Trp364Leu)
c.459G>T
c.108G>T (p.Met36Ile)
 ClinVar gnomAD v4
8g.117835517C>GCA371892566EXT1n.558G>C
c.1091G>C (p.Trp364Ser)
c.459G>C
c.108G>C (p.Met36Ile)
8g.117835517C>TCA371892571EXT1n.558G>A
c.1091G>A (p.Trp364Ter)
c.459G>A
c.108G>A (p.Met36Ile)
 ClinVar
8g.117835518A=CA1813956705EXT1n.557T=
c.1090T= (p.Trp364=)
c.458T=
c.107T= (p.Met36=)
8g.117835518A>CCA371892572EXT1n.557T>G
c.1090T>G (p.Trp364Gly)
c.458T>G
c.107T>G (p.Met36Arg)
8g.117835518A>GCA371892575EXT1n.557T>C
c.1090T>C (p.Trp364Arg)
c.458T>C
c.107T>C (p.Met36Thr)
 dbSNP
8g.117835518A>TCA371892573EXT1n.557T>A
c.1090T>A (p.Trp364Arg)
c.458T>A
c.107T>A (p.Met36Lys)
8g.117835519T>ACA462468847EXT1n.556A>T
c.1089A>T (p.Gly363=)
c.457A>T
c.106A>T (p.Met36Leu)
8g.117835519T>CCA462468848EXT1n.556A>G
c.1089A>G (p.Gly363=)
c.457A>G
c.106A>G (p.Met36Val)
 dbSNP gnomAD v2 gnomAD v4
8g.117835519T>GCA462468849EXT1n.556A>C
c.1089A>C (p.Gly363=)
c.457A>C
c.106A>C (p.Met36Leu)
8g.117835519T=CA1813956706EXT1n.556A=
c.1089A= (p.Gly363=)
c.457A=
c.106A= (p.Met36=)
8g.117835520C>ACA371892587EXT1n.555G>T
c.1088G>T (p.Gly363Val)
c.456G>T
c.105G>T (p.Trp35Cys)
8g.117835520C>GCA371892590EXT1n.555G>C
c.1088G>C (p.Gly363Ala)
c.456G>C
c.105G>C (p.Trp35Cys)
8g.117835520C>TCA371892593EXT1n.555G>A
c.1088G>A (p.Gly363Glu)
c.456G>A
c.105G>A (p.Trp35Ter)
 gnomAD v3 gnomAD v4
8g.117835521_117835531dupCA2579235194EXT1n.545_555dup
c.1078_1088dup (p.Trp364SerfsTer12)
c.446_456dup
c.95_105dup (p.Met36LeufsTer?)
8g.117835521C>ACA371892594EXT1n.554G>T
c.1087G>T (p.Gly363Ter)
c.455G>T
c.104G>T (p.Trp35Leu)
 COSMIC
8g.117835521C=CA1813956707EXT1n.554G=
c.1087G= (p.Gly363=)
c.455G=
c.104G= (p.Trp35=)
8g.117835521C>GCA4854237EXT1n.554G>C
c.1087G>C (p.Gly363Arg)
c.455G>C
c.104G>C (p.Trp35Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835521C>TCA371892596EXT1n.554G>A
c.1087G>A (p.Gly363Arg)
c.455G>A
c.104G>A (p.Trp35Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835522A>CCA371892598EXT1n.553T>G
c.1086T>G (p.Asn362Lys)
c.454T>G
c.103T>G (p.Trp35Gly)
8g.117835522A>GCA462468851EXT1n.553T>C
c.1086T>C (p.Asn362=)
c.454T>C
c.103T>C (p.Trp35Arg)
 gnomAD v4
8g.117835522A>TCA371892601EXT1n.553T>A
c.1086T>A (p.Asn362Lys)
c.454T>A
c.103T>A (p.Trp35Arg)
8g.117835523T>ACA371892603EXT1n.552A>T
c.1085A>T (p.Asn362Ile)
c.453A>T
c.102A>T (p.Gln34His)
8g.117835523T>CCA4854238EXT1n.552A>G
c.1085A>G (p.Asn362Ser)
c.453A>G
c.102A>G (p.Gln34=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835523T>GCA371892608EXT1n.552A>C
c.1085A>C (p.Asn362Thr)
c.453A>C
c.102A>C (p.Gln34His)
8g.117835523T=CA1813956708EXT1n.552A=
c.1085A= (p.Asn362=)
c.453A=
c.102A= (p.Gln34=)
8g.117835524T>ACA371892613EXT1n.551A>T
c.1084A>T (p.Asn362Tyr)
c.452A>T
c.101A>T (p.Gln34Leu)
8g.117835524T>CCA371892624EXT1n.551A>G
c.1084A>G (p.Asn362Asp)
c.452A>G
c.101A>G (p.Gln34Arg)
 ClinVar
8g.117835524T>GCA371892621EXT1n.551A>C
c.1084A>C (p.Asn362His)
c.452A>C
c.101A>C (p.Gln34Pro)
8g.117835525G>ACA462468852EXT1n.550C>T
c.1083C>T (p.Ser361=)
c.451C>T
c.100C>T (p.Gln34Ter)
8g.117835525G>CCA371892627EXT1n.550C>G
c.1083C>G (p.Ser361Arg)
c.451C>G
c.100C>G (p.Gln34Glu)
8g.117835525G>TCA371892630EXT1n.550C>A
c.1083C>A (p.Ser361Arg)
c.451C>A
c.100C>A (p.Gln34Lys)
8g.117835526C>ACA371892631EXT1n.549G>T
c.1082G>T (p.Ser361Ile)
c.450G>T
c.99G>T (p.Gln33His)
8g.117835526C=CA1813956709EXT1n.549G=
c.1082G= (p.Ser361=)
c.450G=
c.99G= (p.Gln33=)
8g.117835526C>GCA371892632EXT1n.549G>C
c.1082G>C (p.Ser361Thr)
c.450G>C
c.99G>C (p.Gln33His)
8g.117835526C>TCA371892634EXT1n.549G>A
c.1082G>A (p.Ser361Asn)
c.450G>A
c.99G>A (p.Gln33=)
 dbSNP
8g.117835527T>ACA371892637EXT1n.548A>T
c.1081A>T (p.Ser361Cys)
c.449A>T
c.98A>T (p.Gln33Leu)
8g.117835527T>CCA371892638EXT1n.548A>G
c.1081A>G (p.Ser361Gly)
c.449A>G
c.98A>G (p.Gln33Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.117835527T>GCA371892639EXT1n.548A>C
c.1081A>C (p.Ser361Arg)
c.449A>C
c.98A>C (p.Gln33Pro)
 COSMIC
8g.117835527T=CA1813956710EXT1n.548A=
c.1081A= (p.Ser361=)
c.449A=
c.98A= (p.Gln33=)
8g.117835528G>ACA462468855EXT1n.547C>T
c.1080C>T (p.Leu360=)
c.448C>T
c.97C>T (p.Gln33Ter)
8g.117835528G>CCA462468856EXT1n.547C>G
c.1080C>G (p.Leu360=)
c.448C>G
c.97C>G (p.Gln33Glu)
8g.117835528G>TCA462468857EXT1n.547C>A
c.1080C>A (p.Leu360=)
c.448C>A
c.97C>A (p.Gln33Lys)
8g.117835529A>CCA371892641EXT1n.546T>G
c.1079T>G (p.Leu360Arg)
c.447T>G
c.96T>G (p.Ala32=)
8g.117835529A>GCA371892643EXT1n.546T>C
c.1079T>C (p.Leu360Pro)
c.447T>C
c.96T>C (p.Ala32=)
8g.117835529A>TCA371892651EXT1n.546T>A
c.1079T>A (p.Leu360His)
c.447T>A
c.96T>A (p.Ala32=)
8g.117835530G>ACA371892657EXT1n.545C>T
c.1078C>T (p.Leu360Phe)
c.446C>T
c.95C>T (p.Ala32Val)
8g.117835530G>CCA371892661EXT1n.545C>G
c.1078C>G (p.Leu360Val)
c.446C>G
c.95C>G (p.Ala32Gly)
8g.117835530G>TCA371892666EXT1n.545C>A
c.1078C>A (p.Leu360Ile)
c.446C>A
c.95C>A (p.Ala32Asp)
 gnomAD v4
8g.117835531C>ACA184296618EXT1n.544G>T
c.1077G>T (p.Met359Ile)
c.445G>T
c.94G>T (p.Ala32Ser)
 dbSNP
8g.117835531C=CA1813956711EXT1n.544G=
c.1077G= (p.Met359=)
c.445G=
c.94G= (p.Ala32=)
8g.117835531C>GCA371892675EXT1n.544G>C
c.1077G>C (p.Met359Ile)
c.445G>C
c.94G>C (p.Ala32Pro)
8g.117835531C>TCA371892676EXT1n.544G>A
c.1077G>A (p.Met359Ile)
c.445G>A
c.94G>A (p.Ala32Thr)
 dbSNP COSMIC
8g.117835532_117835542delCA2695210036EXT1n.534_544del
c.1067_1077del (p.Val356AlafsTer11)
c.435_445del
c.84_94del (p.Pro29SerfsTer12)
8g.117835532A=CA1813956712EXT1n.543T=
c.1076T= (p.Met359=)
c.444T=
c.93T= (p.Asp31=)
8g.117835532A>CCA371892681EXT1n.543T>G
c.1076T>G (p.Met359Arg)
c.444T>G
c.93T>G (p.Asp31Glu)
8g.117835532A>GCA371892684EXT1n.543T>C
c.1076T>C (p.Met359Thr)
c.444T>C
c.93T>C (p.Asp31=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835532A>TCA4854239EXT1n.543T>A
c.1076T>A (p.Met359Lys)
c.444T>A
c.93T>A (p.Asp31Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835532dupCA2573142838EXT1n.543dup
c.1076dup (p.Met359IlefsTer12)
c.444dup
c.93dup (p.Ala32CysfsTer13)
 ClinVar dbSNP
8g.117835533T>ACA371892691EXT1n.542A>T
c.1075A>T (p.Met359Leu)
c.443A>T
c.92A>T (p.Asp31Val)
8g.117835533T>CCA371892692EXT1n.542A>G
c.1075A>G (p.Met359Val)
c.443A>G
c.92A>G (p.Asp31Gly)
 gnomAD v4
8g.117835533T>GCA371892696EXT1n.542A>C
c.1075A>C (p.Met359Leu)
c.443A>C
c.92A>C (p.Asp31Ala)
8g.117835534C>ACA462468861EXT1n.541G>T
c.1074G>T (p.Val358=)
c.442G>T
c.91G>T (p.Asp31Tyr)
8g.117835534C>GCA462468862EXT1n.541G>C
c.1074G>C (p.Val358=)
c.442G>C
c.91G>C (p.Asp31His)
8g.117835534C>TCA462468863EXT1n.541G>A
c.1074G>A (p.Val358=)
c.442G>A
c.91G>A (p.Asp31Asn)
 COSMIC
8g.117835535A>CCA371892701EXT1n.540T>G
c.1073T>G (p.Val358Gly)
c.441T>G
c.90T>G (p.Cys30Trp)
8g.117835535A>GCA371892703EXT1n.540T>C
c.1073T>C (p.Val358Ala)
c.441T>C
c.90T>C (p.Cys30=)
8g.117835535A>TCA371892704EXT1n.540T>A
c.1073T>A (p.Val358Glu)
c.441T>A
c.90T>A (p.Cys30Ter)
8g.117835535dupCA2573142839EXT1n.540dup
c.1073dup (p.Met359AspfsTer12)
c.441dup
c.90dup (p.Asp31Ter)
 ClinVar dbSNP
8g.117835536C>ACA371892705EXT1n.539G>T
c.1072G>T (p.Val358Leu)
c.440G>T
c.89G>T (p.Cys30Phe)
8g.117835536C=CA1813956713EXT1n.539G=
c.1072G= (p.Val358=)
c.440G=
c.89G= (p.Cys30=)
8g.117835536C>GCA4854240EXT1n.539G>C
c.1072G>C (p.Val358Leu)
c.440G>C
c.89G>C (p.Cys30Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835536C>TCA371892708EXT1n.539G>A
c.1072G>A (p.Val358Met)
c.440G>A
c.89G>A (p.Cys30Tyr)
 dbSNP
8g.117835537A>CCA462468865EXT1n.538T>G
c.1071T>G (p.Pro357=)
c.439T>G
c.88T>G (p.Cys30Gly)
8g.117835537A>GCA462468866EXT1n.538T>C
c.1071T>C (p.Pro357=)
c.439T>C
c.88T>C (p.Cys30Arg)
8g.117835537A>TCA462468864EXT1n.538T>A
c.1071T>A (p.Pro357=)
c.439T>A
c.88T>A (p.Cys30Ser)
8g.117835538G>ACA371892715EXT1n.537C>T
c.1070C>T (p.Pro357Leu)
c.438C>T
c.87C>T (p.Pro29=)
8g.117835538G>CCA371892714EXT1n.537C>G
c.1070C>G (p.Pro357Arg)
c.438C>G
c.87C>G (p.Pro29=)
 ClinVar dbSNP
8g.117835538G=CA1813956714EXT1n.537C=
c.1070C= (p.Pro357=)
c.438C=
c.87C= (p.Pro29=)
8g.117835538G>TCA371892711EXT1n.537C>A
c.1070C>A (p.Pro357His)
c.438C>A
c.87C>A (p.Pro29=)
 dbSNP
8g.117835539G>ACA371892725EXT1n.536C>T
c.1069C>T (p.Pro357Ser)
c.437C>T
c.86C>T (p.Pro29Leu)
 gnomAD v4
8g.117835539G>CCA371892720EXT1n.536C>G
c.1069C>G (p.Pro357Ala)
c.437C>G
c.86C>G (p.Pro29Arg)
8g.117835539G>TCA371892723EXT1n.536C>A
c.1069C>A (p.Pro357Thr)
c.437C>A
c.86C>A (p.Pro29His)
8g.117835540G>ACA462468870EXT1n.535C>T
c.1068C>T (p.Val356=)
c.436C>T
c.85C>T (p.Pro29Ser)
8g.117835540G>CCA462468868EXT1n.535C>G
c.1068C>G (p.Val356=)
c.436C>G
c.85C>G (p.Pro29Ala)
 gnomAD v4
8g.117835540G>TCA462468869EXT1n.535C>A
c.1068C>A (p.Val356=)
c.436C>A
c.85C>A (p.Pro29Thr)
8g.117835541A>CCA371892733EXT1n.534T>G
c.1067T>G (p.Val356Gly)
c.435T>G
c.84T>G (p.Arg28=)
8g.117835541A>GCA371892736EXT1n.534T>C
c.1067T>C (p.Val356Ala)
c.435T>C
c.84T>C (p.Arg28=)
8g.117835541A>TCA371892739EXT1n.534T>A
c.1067T>A (p.Val356Asp)
c.435T>A
c.84T>A (p.Arg28=)
8g.117835542C>ACA371892741EXT1n.533G>T
c.1066G>T (p.Val356Phe)
c.434G>T
c.83G>T (p.Arg28Leu)
 dbSNP
8g.117835542C=CA1813956715EXT1n.533G=
c.1066G= (p.Val356=)
c.434G=
c.83G= (p.Arg28=)
8g.117835542C>GCA371892740EXT1n.533G>C
c.1066G>C (p.Val356Leu)
c.434G>C
c.83G>C (p.Arg28Pro)
8g.117835542C>TCA4854241EXT1n.533G>A
c.1066G>A (p.Val356Ile)
c.434G>A
c.83G>A (p.Arg28His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835543G>ACA202210EXT1n.532C>T
c.1065C>T (p.Cys355=)
c.433C>T
c.82C>T (p.Arg28Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835543G>CCA371892746EXT1n.532C>G
c.1065C>G (p.Cys355Trp)
c.433C>G
c.82C>G (p.Arg28Gly)
8g.117835543G=CA1630835207EXT1n.532C=
c.1065C= (p.Cys355=)
c.433C=
c.82C= (p.Arg28=)
8g.117835543G>TCA371892751EXT1n.532C>A
c.1065C>A (p.Cys355Ter)
c.433C>A
c.82C>A (p.Arg28Ser)
 ClinVar dbSNP
8g.117835543_117835544delinsATCA2739268962EXT1n.531_532delinsAT
c.1064_1065delinsAT (p.Cys355Tyr)
c.432_433delinsAT
c.81_82delinsAT (p.Arg28Cys)
 ClinVar
8g.117835544C>ACA371892759EXT1n.531G>T
c.1064G>T (p.Cys355Phe)
c.432G>T
c.81G>T (p.Leu27=)
8g.117835544C>GCA371892761EXT1n.531G>C
c.1064G>C (p.Cys355Ser)
c.432G>C
c.81G>C (p.Leu27=)
8g.117835544C>TCA371892768EXT1n.531G>A
c.1064G>A (p.Cys355Tyr)
c.432G>A
c.81G>A (p.Leu27=)
 ClinVar dbSNP
8g.117835545A=CA1813956716EXT1n.530T=
c.1063T= (p.Cys355=)
c.431T=
c.80T= (p.Leu27=)
8g.117835545A>CCA371892773EXT1n.530T>G
c.1063T>G (p.Cys355Gly)
c.431T>G
c.80T>G (p.Leu27Arg)
8g.117835545A>GCA371892785EXT1n.530T>C
c.1063T>C (p.Cys355Arg)
c.431T>C
c.80T>C (p.Leu27Pro)
 ClinVar dbSNP
8g.117835545A>TCA371892783EXT1n.530T>A
c.1063T>A (p.Cys355Ser)
c.431T>A
c.80T>A (p.Leu27Gln)
8g.117835546G>ACA462468872EXT1n.529C>T
c.1062C>T (p.Ala354=)
c.430C>T
c.79C>T (p.Leu27=)
 dbSNP gnomAD v4
8g.117835546G>CCA462468873EXT1n.529C>G
c.1062C>G (p.Ala354=)
c.430C>G
c.79C>G (p.Leu27Val)
8g.117835546G=CA1813956717EXT1n.529C=
c.1062C= (p.Ala354=)
c.430C=
c.79C= (p.Leu27=)
8g.117835546G>TCA462468874EXT1n.529C>A
c.1062C>A (p.Ala354=)
c.430C>A
c.79C>A (p.Leu27Met)
8g.117835547G>ACA371892789EXT1n.528C>T
c.1061C>T (p.Ala354Val)
c.429C>T
c.78C>T (p.Cys26=)
8g.117835547G>CCA371892792EXT1n.528C>G
c.1061C>G (p.Ala354Gly)
c.429C>G
c.78C>G (p.Cys26Trp)
8g.117835547G>TCA371892795EXT1n.528C>A
c.1061C>A (p.Ala354Asp)
c.429C>A
c.78C>A (p.Cys26Ter)
8g.117835547_117835557delCA2781902055EXT1n.524-6_528del
c.1057-6_1061del
c.425-6_429del
c.74-6_78del
8g.117835548C>ACA371892804EXT1n.527G>T
c.1060G>T (p.Ala354Ser)
c.428G>T
c.77G>T (p.Cys26Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835548C=CA1813956718EXT1n.527G=
c.1060G= (p.Ala354=)
c.428G=
c.77G= (p.Cys26=)
8g.117835548C>GCA371892808EXT1n.527G>C
c.1060G>C (p.Ala354Pro)
c.428G>C
c.77G>C (p.Cys26Ser)
8g.117835548C>TCA371892811EXT1n.527G>A
c.1060G>A (p.Ala354Thr)
c.428G>A
c.77G>A (p.Cys26Tyr)
 dbSNP
8g.117835549A>CCA462468878EXT1n.526T>G
c.1059T>G (p.Ala353=)
c.427T>G
c.76T>G (p.Cys26Gly)
8g.117835549A>GCA462468879EXT1n.526T>C
c.1059T>C (p.Ala353=)
c.427T>C
c.76T>C (p.Cys26Arg)
8g.117835549A>TCA462468880EXT1n.526T>A
c.1059T>A (p.Ala353=)
c.427T>A
c.76T>A (p.Cys26Ser)
8g.117835549_117835557delinsAGCCTGAGCCA1813956719EXT1n.524-6_526delinsGCTCAGGCT
c.1057-6_1059delinsGCTCAGGCT
c.425-6_427delinsGCTCAGGCT
c.74-6_76delinsGCTCAGGCT
8g.117835550G>ACA371892812EXT1n.525C>T
c.1058C>T (p.Ala353Val)
c.426C>T
c.75C>T (p.Gly25=)
 dbSNP
8g.117835550G>CCA371892813EXT1n.525C>G
c.1058C>G (p.Ala353Gly)
c.426C>G
c.75C>G (p.Gly25=)
8g.117835550G>TCA371892816EXT1n.525C>A
c.1058C>A (p.Ala353Asp)
c.426C>A
c.75C>A (p.Gly25=)
8g.117835550_117835557delCA584341143EXT1n.524-6_525del
c.1057-6_1058del
c.425-6_426del
c.74-6_75del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835551C>ACA371892820EXT1n.524G>T
c.1057G>T (p.Ala353Ser)
c.425G>T
c.74G>T (p.Gly25Val)
8g.117835551C>GCA371892824EXT1n.524G>C
c.1057G>C (p.Ala353Pro)
c.425G>C
c.74G>C (p.Gly25Ala)
 dbSNP
8g.117835551C>TCA371892829EXT1n.524G>A
c.1057G>A (p.Ala353Thr)
c.425G>A
c.74G>A (p.Gly25Asp)
 dbSNP
8g.117835552C>ACA371892841EXT1n.524-1G>T
c.1057-1G>T (n.1057-1G>T)
c.425-1G>T
c.74-1G>T (n.74-1G>T)
8g.117835552C=CA1813956720EXT1n.524-1G=
c.1057-1G= (n.1057-1G=)
c.425-1G=
c.74-1G= (n.74-1G=)
8g.117835552C>GCA371892844EXT1n.524-1G>C
c.1057-1G>C (n.1057-1G>C)
c.425-1G>C
c.74-1G>C (n.74-1G>C)
 ClinVar dbSNP
8g.117835552C>TCA371892840EXT1n.524-1G>A
c.1057-1G>A (n.1057-1G>A)
c.425-1G>A
c.74-1G>A (n.74-1G>A)
8g.117835553T>ACA371892847EXT1n.524-2A>T
c.1057-2A>T (n.1057-2A>T)
c.425-2A>T
c.74-2A>T (n.74-2A>T)
 ClinVar dbSNP
8g.117835553T>CCA371892853EXT1n.524-2A>G
c.1057-2A>G (n.1057-2A>G)
c.425-2A>G
c.74-2A>G (n.74-2A>G)
 ClinVar dbSNP
8g.117835553T>GCA371892849EXT1n.524-2A>C
c.1057-2A>C (n.1057-2A>C)
c.425-2A>C
c.74-2A>C (n.74-2A>C)
 ClinVar
8g.117835553T=CA1813956721EXT1n.524-2A=
c.1057-2A= (n.1057-2A=)
c.425-2A=
c.74-2A= (n.74-2A=)
8g.117835554G>ACA584341144EXT1n.524-3C>T
c.1057-3C>T (n.1057-3C>T)
c.425-3C>T
c.74-3C>T (n.74-3C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.117835554G>CCA2580617226EXT1n.524-3C>G
c.1057-3C>G (n.1057-3C>G)
c.425-3C>G
c.74-3C>G (n.74-3C>G)
 ClinVar
8g.117835554G=CA1813956722EXT1n.524-3C=
c.1057-3C= (n.1057-3C=)
c.425-3C=
c.74-3C= (n.74-3C=)
8g.117835554G>TCA184296655EXT1n.524-3C>A
c.1057-3C>A (n.1057-3C>A)
c.425-3C>A
c.74-3C>A (n.74-3C>A)
 dbSNP gnomAD v4
8g.117835555A=CA1813956723EXT1n.524-4T=
c.1057-4T= (n.1057-4T=)
c.425-4T=
c.74-4T= (n.74-4T=)
8g.117835555A>GCA1813956724EXT1n.524-4T>C
c.1057-4T>C (n.1057-4T>C)
c.425-4T>C
c.74-4T>C (n.74-4T>C)
 dbSNP gnomAD v4
8g.117835556G>ACA2718164170EXT1n.524-5C>T
c.1057-5C>T (n.1057-5C>T)
c.425-5C>T
c.74-5C>T (n.74-5C>T)
 dbSNP
8g.117835557C>ACA2688346679EXT1n.524-6G>T
c.1057-6G>T (n.1057-6G>T)
c.425-6G>T
c.74-6G>T (n.74-6G>T)
 gnomAD v4
8g.117835557C=CA1813956725EXT1n.524-6G=
c.1057-6G= (n.1057-6G=)
c.425-6G=
c.74-6G= (n.74-6G=)
8g.117835557C>GCA4854242EXT1n.524-6G>C
c.1057-6G>C (n.1057-6G>C)
c.425-6G>C
c.74-6G>C (n.74-6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835558A=CA1813956726EXT1n.524-7T=
c.1057-7T= (n.1057-7T=)
c.425-7T=
c.74-7T= (n.74-7T=)
8g.117835558A>GCA584341146EXT1n.524-7T>C
c.1057-7T>C (n.1057-7T>C)
c.425-7T>C
c.74-7T>C (n.74-7T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.117835563_117835564insAAAAAAACA2781902057EXT1n.524-7_524-6insTTTTTTT
c.1057-7_1057-6insTTTTTTT (n.1057-7_1057-6insTTTTTTT)
c.425-7_425-6insTTTTTTT
c.74-7_74-6insTTTTTTT (n.74-7_74-6insTTTTTTT)
8g.117835563_117835564insAAAAAAAACA584341145EXT1n.524-7_524-6insTTTTTTTT
c.1057-7_1057-6insTTTTTTTT (n.1057-7_1057-6insTTTTTTTT)
c.425-7_425-6insTTTTTTTT
c.74-7_74-6insTTTTTTTT (n.74-7_74-6insTTTTTTTT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835563_117835564insAAAAAAAAACA2781902058EXT1n.524-7_524-6insTTTTTTTTT
c.1057-7_1057-6insTTTTTTTTT (n.1057-7_1057-6insTTTTTTTTT)
c.425-7_425-6insTTTTTTTTT
c.74-7_74-6insTTTTTTTTT (n.74-7_74-6insTTTTTTTTT)
8g.117835563_117835564insAAAAAAAAAAACA2781902059EXT1n.524-7_524-6insTTTTTTTTTTT
c.1057-7_1057-6insTTTTTTTTTTT (n.1057-7_1057-6insTTTTTTTTTTT)
c.425-7_425-6insTTTTTTTTTTT
c.74-7_74-6insTTTTTTTTTTT (n.74-7_74-6insTTTTTTTTTTT)
8g.117835563dupCA184296675EXT1n.524-7dup
c.1057-7dup (n.1057-7dup)
c.425-7dup
c.74-7dup (n.74-7dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835559_117835563dupCA2781902056EXT1n.524-11_524-7dup
c.1057-11_1057-7dup (n.1057-11_1057-7dup)
c.425-11_425-7dup
c.74-11_74-7dup (n.74-11_74-7dup)
8g.117835563delCA2688346680EXT1n.524-7del
c.1057-7del (n.1057-7del)
c.425-7del
c.74-7del (n.74-7del)
 gnomAD v4
8g.117835559A=CA1813956727EXT1n.524-8T=
c.1057-8T= (n.1057-8T=)
c.425-8T=
c.74-8T= (n.74-8T=)
8g.117835559A>GCA1118344455EXT1n.524-8T>C
c.1057-8T>C (n.1057-8T>C)
c.425-8T>C
c.74-8T>C (n.74-8T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.117835563A>GCA2718164189EXT1n.524-12T>C
c.1057-12T>C (n.1057-12T>C)
c.425-12T>C
c.74-12T>C (n.74-12T>C)
 dbSNP
8g.117835563A>TCA2688346681EXT1n.524-12T>A
c.1057-12T>A (n.1057-12T>A)
c.425-12T>A
c.74-12T>A (n.74-12T>A)
 gnomAD v4
8g.117835564G>ACA4854243EXT1n.524-13C>T
c.1057-13C>T (n.1057-13C>T)
c.425-13C>T
c.74-13C>T (n.74-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835564G>CCA2688346683EXT1n.524-13C>G
c.1057-13C>G (n.1057-13C>G)
c.425-13C>G
c.74-13C>G (n.74-13C>G)
 gnomAD v4
8g.117835564G=CA1813956728EXT1n.524-13C=
c.1057-13C= (n.1057-13C=)
c.425-13C=
c.74-13C= (n.74-13C=)
8g.117835564G>TCA2688346684EXT1n.524-13C>A
c.1057-13C>A (n.1057-13C>A)
c.425-13C>A
c.74-13C>A (n.74-13C>A)
 gnomAD v4
8g.117835567delCA2688346682EXT1n.524-13del
c.1057-13del (n.1057-13del)
c.425-13del
c.74-13del (n.74-13del)
 gnomAD v4
8g.117835565G>ACA2579235195EXT1n.524-14C>T
c.1057-14C>T (n.1057-14C>T)
c.425-14C>T
c.74-14C>T (n.74-14C>T)
 gnomAD v4
8g.117835565G>CCA2688346685EXT1n.524-14C>G
c.1057-14C>G (n.1057-14C>G)
c.425-14C>G
c.74-14C>G (n.74-14C>G)
 gnomAD v4
8g.117835566G>ACA846217081EXT1n.524-15C>T
c.1057-15C>T (n.1057-15C>T)
c.425-15C>T
c.74-15C>T (n.74-15C>T)
 dbSNP
8g.117835566G=CA1813956729EXT1n.524-15C=
c.1057-15C= (n.1057-15C=)
c.425-15C=
c.74-15C= (n.74-15C=)
8g.117835566G>TCA1813956730EXT1n.524-15C>A
c.1057-15C>A (n.1057-15C>A)
c.425-15C>A
c.74-15C>A (n.74-15C>A)
 dbSNP gnomAD v4
8g.117835567G>ACA1813956732EXT1n.524-16C>T
c.1057-16C>T (n.1057-16C>T)
c.425-16C>T
c.74-16C>T (n.74-16C>T)
 dbSNP
8g.117835567G=CA1813956731EXT1n.524-16C=
c.1057-16C= (n.1057-16C=)
c.425-16C=
c.74-16C= (n.74-16C=)
8g.117835567G>TCA2688346686EXT1n.524-16C>A
c.1057-16C>A (n.1057-16C>A)
c.425-16C>A
c.74-16C>A (n.74-16C>A)
 gnomAD v4
8g.117835570T>CCA4854244EXT1n.524-19A>G
c.1057-19A>G (n.1057-19A>G)
c.425-19A>G
c.74-19A>G (n.74-19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835570T>GCA584341148EXT1n.524-19A>C
c.1057-19A>C (n.1057-19A>C)
c.425-19A>C
c.74-19A>C (n.74-19A>C)
 dbSNP gnomAD v2 gnomAD v4
8g.117835570T=CA1813956733EXT1n.524-19A=
c.1057-19A= (n.1057-19A=)
c.425-19A=
c.74-19A= (n.74-19A=)
8g.117835571T>CCA2688346687EXT1n.524-20A>G
c.1057-20A>G (n.1057-20A>G)
c.425-20A>G
c.74-20A>G (n.74-20A>G)
 gnomAD v4
8g.117835572C=CA1813956734EXT1n.524-21G=
c.1057-21G= (n.1057-21G=)
c.425-21G=
c.74-21G= (n.74-21G=)
8g.117835572C>GCA4854246EXT1n.524-21G>C
c.1057-21G>C (n.1057-21G>C)
c.425-21G>C
c.74-21G>C (n.74-21G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835572C>TCA4854245EXT1n.524-21G>A
c.1057-21G>A (n.1057-21G>A)
c.425-21G>A
c.74-21G>A (n.74-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835573G>ACA4854247EXT1n.524-22C>T
c.1057-22C>T (n.1057-22C>T)
c.425-22C>T
c.74-22C>T (n.74-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835573G=CA1813956735EXT1n.524-22C=
c.1057-22C= (n.1057-22C=)
c.425-22C=
c.74-22C= (n.74-22C=)
8g.117835573G>TCA2688346688EXT1n.524-22C>A
c.1057-22C>A (n.1057-22C>A)
c.425-22C>A
c.74-22C>A (n.74-22C>A)
 gnomAD v4
8g.117835574T>ACA184296718EXT1n.524-23A>T
c.1057-23A>T (n.1057-23A>T)
c.425-23A>T
c.74-23A>T (n.74-23A>T)
 dbSNP
8g.117835574T=CA1813956736EXT1n.524-23A=
c.1057-23A= (n.1057-23A=)
c.425-23A=
c.74-23A= (n.74-23A=)
8g.117835575G>ACA2688346689EXT1n.524-24C>T
c.1057-24C>T (n.1057-24C>T)
c.425-24C>T
c.74-24C>T (n.74-24C>T)
 dbSNP gnomAD v4
8g.117835575G>TCA2688346690EXT1n.524-24C>A
c.1057-24C>A (n.1057-24C>A)
c.425-24C>A
c.74-24C>A (n.74-24C>A)
 gnomAD v4
8g.117835576A>CCA2688346691EXT1n.524-25T>G
c.1057-25T>G (n.1057-25T>G)
c.425-25T>G
c.74-25T>G (n.74-25T>G)
 gnomAD v4
8g.117835577A=CA1813956737EXT1n.524-26T=
c.1057-26T= (n.1057-26T=)
c.425-26T=
c.74-26T= (n.74-26T=)
8g.117835577A>CCA4854249EXT1n.524-26T>G
c.1057-26T>G (n.1057-26T>G)
c.425-26T>G
c.74-26T>G (n.74-26T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835577A>TCA4854248EXT1n.524-26T>A
c.1057-26T>A (n.1057-26T>A)
c.425-26T>A
c.74-26T>A (n.74-26T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835578T>ACA1118344473EXT1n.524-27A>T
c.1057-27A>T (n.1057-27A>T)
c.425-27A>T
c.74-27A>T (n.74-27A>T)
 dbSNP gnomAD v3 gnomAD v4
8g.117835578T>CCA584341151EXT1n.524-27A>G
c.1057-27A>G (n.1057-27A>G)
c.425-27A>G
c.74-27A>G (n.74-27A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835578T=CA1813956738EXT1n.524-27A=
c.1057-27A= (n.1057-27A=)
c.425-27A=
c.74-27A= (n.74-27A=)
8g.117835579G>ACA584341152EXT1n.524-28C>T
c.1057-28C>T (n.1057-28C>T)
c.425-28C>T
c.74-28C>T (n.74-28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117835579G=CA1813956739EXT1n.524-28C=
c.1057-28C= (n.1057-28C=)
c.425-28C=
c.74-28C= (n.74-28C=)
8g.117835579G>TCA2688346692EXT1n.524-28C>A
c.1057-28C>A (n.1057-28C>A)
c.425-28C>A
c.74-28C>A (n.74-28C>A)
 gnomAD v4
8g.117835580T>ACA2688346693EXT1n.524-29A>T
c.1057-29A>T (n.1057-29A>T)
c.425-29A>T
c.74-29A>T (n.74-29A>T)
 gnomAD v4
8g.117835580T>CCA2688346694EXT1n.524-29A>G
c.1057-29A>G (n.1057-29A>G)
c.425-29A>G
c.74-29A>G (n.74-29A>G)
 gnomAD v4
8g.117835581G>TCA2688346695EXT1n.524-30C>A
c.1057-30C>A (n.1057-30C>A)
c.425-30C>A
c.74-30C>A (n.74-30C>A)
 gnomAD v4
8g.117835583G>ACA4854250EXT1n.524-32C>T
c.1057-32C>T (n.1057-32C>T)
c.425-32C>T
c.74-32C>T (n.74-32C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835583G>CCA4854251EXT1n.524-32C>G
c.1057-32C>G (n.1057-32C>G)
c.425-32C>G
c.74-32C>G (n.74-32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835583G=CA1813956740EXT1n.524-32C=
c.1057-32C= (n.1057-32C=)
c.425-32C=
c.74-32C= (n.74-32C=)
8g.117835584G>ACA184296738EXT1n.524-33C>T
c.1057-33C>T (n.1057-33C>T)
c.425-33C>T
c.74-33C>T (n.74-33C>T)
 dbSNP gnomAD v4
8g.117835584G>CCA2688346696EXT1n.524-33C>G
c.1057-33C>G (n.1057-33C>G)
c.425-33C>G
c.74-33C>G (n.74-33C>G)
 gnomAD v4
8g.117835584G=CA1813956741EXT1n.524-33C=
c.1057-33C= (n.1057-33C=)
c.425-33C=
c.74-33C= (n.74-33C=)
8g.117835585A=CA1813956742EXT1n.524-34T=
c.1057-34T= (n.1057-34T=)
c.425-34T=
c.74-34T= (n.74-34T=)
8g.117835585A>GCA846217114EXT1n.524-34T>C
c.1057-34T>C (n.1057-34T>C)
c.425-34T>C
c.74-34T>C (n.74-34T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.117835586A>TCA2688346697EXT1n.524-35T>A
c.1057-35T>A (n.1057-35T>A)
c.425-35T>A
c.74-35T>A (n.74-35T>A)
 gnomAD v4
8g.117835587A>TCA2718164206EXT1n.524-36T>A
c.1057-36T>A (n.1057-36T>A)
c.425-36T>A
c.74-36T>A (n.74-36T>A)
 dbSNP
8g.117835588G>TCA2688346698EXT1n.524-37C>A
c.1057-37C>A (n.1057-37C>A)
c.425-37C>A
c.74-37C>A (n.74-37C>A)
 gnomAD v4
8g.117835589C>ACA4854253EXT1n.524-38G>T
c.1057-38G>T (n.1057-38G>T)
c.425-38G>T
c.74-38G>T (n.74-38G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835589C=CA1813956743EXT1n.524-38G=
c.1057-38G= (n.1057-38G=)
c.425-38G=
c.74-38G= (n.74-38G=)
8g.117835589C>TCA4854252EXT1n.524-38G>A
c.1057-38G>A (n.1057-38G>A)
c.425-38G>A
c.74-38G>A (n.74-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835590G>ACA4854254EXT1n.524-39C>T
c.1057-39C>T (n.1057-39C>T)
c.425-39C>T
c.74-39C>T (n.74-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117835590G=CA1813956744EXT1n.524-39C=
c.1057-39C= (n.1057-39C=)
c.425-39C=
c.74-39C= (n.74-39C=)
8g.117835590G>TCA4854255EXT1n.524-39C>A
c.1057-39C>A (n.1057-39C>A)
c.425-39C>A
c.74-39C>A (n.74-39C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835591A=CA1813956745EXT1n.524-40T=
c.1057-40T= (n.1057-40T=)
c.425-40T=
c.74-40T= (n.74-40T=)
8g.117835591A>GCA4854256EXT1n.524-40T>C
c.1057-40T>C (n.1057-40T>C)
c.425-40T>C
c.74-40T>C (n.74-40T>C)
 dbSNP ExAC
8g.117835592C=CA1813956746EXT1n.524-41G=
c.1057-41G= (n.1057-41G=)
c.425-41G=
c.74-41G= (n.74-41G=)
8g.117835592C>GCA4854257EXT1n.524-41G>C
c.1057-41G>C (n.1057-41G>C)
c.425-41G>C
c.74-41G>C (n.74-41G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117835592C>TCA2688346699EXT1n.524-41G>A
c.1057-41G>A (n.1057-41G>A)
c.425-41G>A
c.74-41G>A (n.74-41G>A)
 gnomAD v4
8g.117835593A>GCA2688346700EXT1n.524-42T>C
c.1057-42T>C (n.1057-42T>C)
c.425-42T>C
c.74-42T>C (n.74-42T>C)
 gnomAD v4

Number of alleles fetched