Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145749C>ACA477382848TBCEL-TECTA,TECTAc.3738C>A (p.Gly1246=)
c.1045C>A
n.303C>A
c.4695C>A (p.Gly1565=)
11g.121145749C>GCA477382849TBCEL-TECTA,TECTAc.3738C>G (p.Gly1246=)
c.1045C>G
n.303C>G
c.4695C>G (p.Gly1565=)
11g.121145749C>TCA477382847TBCEL-TECTA,TECTAc.3738C>T (p.Gly1246=)
c.1045C>T
n.303C>T
c.4695C>T (p.Gly1565=)
11g.121145750A=CA2004737524TBCEL-TECTA,TECTAc.3739A= (p.Asn1247=)
c.1046A=
n.304A=
c.4696A= (p.Asn1566=)
11g.121145750A>CCA6327283TBCEL-TECTA,TECTAc.3739A>C (p.Asn1247His)
c.1046A>C
n.304A>C
c.4696A>C (p.Asn1566His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145750A>GCA383022122TBCEL-TECTA,TECTAc.3739A>G (p.Asn1247Asp)
c.1046A>G
n.304A>G
c.4696A>G (p.Asn1566Asp)
11g.121145750A>TCA383022118TBCEL-TECTA,TECTAc.3739A>T (p.Asn1247Tyr)
c.1046A>T
n.304A>T
c.4696A>T (p.Asn1566Tyr)
11g.121145751A>CCA383022127TBCEL-TECTA,TECTAc.3740A>C (p.Asn1247Thr)
c.1047A>C
n.305A>C
c.4697A>C (p.Asn1566Thr)
11g.121145751A>GCA383022130TBCEL-TECTA,TECTAc.3740A>G (p.Asn1247Ser)
c.1047A>G
n.305A>G
c.4697A>G (p.Asn1566Ser)
11g.121145751A>TCA383022131TBCEL-TECTA,TECTAc.3740A>T (p.Asn1247Ile)
c.1047A>T
n.305A>T
c.4697A>T (p.Asn1566Ile)
11g.121145751_121145752delinsACCA2004737525TBCEL-TECTA,TECTAc.3740_3741delinsAC (p.Asn1247=)
c.1047_1048delinsAC
n.305_306delinsAC
c.4697_4698delinsAC (p.Asn1566=)
11g.121145752C>ACA383022132TBCEL-TECTA,TECTAc.3741C>A (p.Asn1247Lys)
c.1048C>A
n.306C>A
c.4698C>A (p.Asn1566Lys)
 dbSNP gnomAD v2 gnomAD v4
11g.121145752C=CA2004737526TBCEL-TECTA,TECTAc.3741C= (p.Asn1247=)
c.1048C=
n.306C=
c.4698C= (p.Asn1566=)
11g.121145752C>GCA383022133TBCEL-TECTA,TECTAc.3741C>G (p.Asn1247Lys)
c.1048C>G
n.306C>G
c.4698C>G (p.Asn1566Lys)
 dbSNP
11g.121145752C>TCA477382850TBCEL-TECTA,TECTAc.3741C>T (p.Asn1247=)
c.1048C>T
n.306C>T
c.4698C>T (p.Asn1566=)
11g.121145754delCA477382851TBCEL-TECTA,TECTAc.3743del (p.Pro1248LeufsTer24)
c.1050del
n.308del
c.4700del (p.Pro1567LeufsTer24)
 dbSNP gnomAD v4
11g.121145753C>ACA383022136TBCEL-TECTA,TECTAc.3742C>A (p.Pro1248Thr)
c.1049C>A
n.307C>A
c.4699C>A (p.Pro1567Thr)
11g.121145753C=CA2004737527TBCEL-TECTA,TECTAc.3742C= (p.Pro1248=)
c.1049C=
n.307C=
c.4699C= (p.Pro1567=)
11g.121145753C>GCA383022137TBCEL-TECTA,TECTAc.3742C>G (p.Pro1248Ala)
c.1049C>G
n.307C>G
c.4699C>G (p.Pro1567Ala)
11g.121145753C>TCA6327284TBCEL-TECTA,TECTAc.3742C>T (p.Pro1248Ser)
c.1049C>T
n.307C>T
c.4699C>T (p.Pro1567Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145754C>ACA383022144TBCEL-TECTA,TECTAc.3743C>A (p.Pro1248His)
c.1050C>A
n.308C>A
c.4700C>A (p.Pro1567His)
11g.121145754C=CA2004737528TBCEL-TECTA,TECTAc.3743C= (p.Pro1248=)
c.1050C=
n.308C=
c.4700C= (p.Pro1567=)
11g.121145754C>GCA383022146TBCEL-TECTA,TECTAc.3743C>G (p.Pro1248Arg)
c.1050C>G
n.308C>G
c.4700C>G (p.Pro1567Arg)
11g.121145754C>TCA6327285TBCEL-TECTA,TECTAc.3743C>T (p.Pro1248Leu)
c.1050C>T
n.308C>T
c.4700C>T (p.Pro1567Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145755T>ACA477382852TBCEL-TECTA,TECTAc.3744T>A (p.Pro1248=)
c.1051T>A
n.309T>A
c.4701T>A (p.Pro1567=)
11g.121145755T>CCA477382853TBCEL-TECTA,TECTAc.3744T>C (p.Pro1248=)
c.1051T>C
n.309T>C
c.4701T>C (p.Pro1567=)
11g.121145755T>GCA477382854TBCEL-TECTA,TECTAc.3744T>G (p.Pro1248=)
c.1051T>G
n.309T>G
c.4701T>G (p.Pro1567=)
11g.121145756G>ACA383022152TBCEL-TECTA,TECTAc.3745G>A (p.Asp1249Asn)
c.1052G>A
n.310G>A
c.4702G>A (p.Asp1568Asn)
 gnomAD v4
11g.121145756G>CCA383022155TBCEL-TECTA,TECTAc.3745G>C (p.Asp1249His)
c.1052G>C
n.310G>C
c.4702G>C (p.Asp1568His)
11g.121145756G>TCA383022156TBCEL-TECTA,TECTAc.3745G>T (p.Asp1249Tyr)
c.1052G>T
n.310G>T
c.4702G>T (p.Asp1568Tyr)
11g.121145757A>CCA383022163TBCEL-TECTA,TECTAc.3746A>C (p.Asp1249Ala)
c.1053A>C
n.311A>C
c.4703A>C (p.Asp1568Ala)
11g.121145757A>GCA383022165TBCEL-TECTA,TECTAc.3746A>G (p.Asp1249Gly)
c.1053A>G
n.311A>G
c.4703A>G (p.Asp1568Gly)
11g.121145757A>TCA383022160TBCEL-TECTA,TECTAc.3746A>T (p.Asp1249Val)
c.1053A>T
n.311A>T
c.4703A>T (p.Asp1568Val)
 gnomAD v4
11g.121145758T>ACA383022169TBCEL-TECTA,TECTAc.3747T>A (p.Asp1249Glu)
c.1054T>A
n.312T>A
c.4704T>A (p.Asp1568Glu)
11g.121145758T>CCA477382855TBCEL-TECTA,TECTAc.3747T>C (p.Asp1249=)
c.1054T>C
n.312T>C
c.4704T>C (p.Asp1568=)
 gnomAD v4
11g.121145758T>GCA383022171TBCEL-TECTA,TECTAc.3747T>G (p.Asp1249Glu)
c.1054T>G
n.312T>G
c.4704T>G (p.Asp1568Glu)
11g.121145759G>ACA383022176TBCEL-TECTA,TECTAc.3748G>A (p.Asp1250Asn)
c.1055G>A
n.313G>A
c.4705G>A (p.Asp1569Asn)
11g.121145759G>CCA6327286TBCEL-TECTA,TECTAc.3748G>C (p.Asp1250His)
c.1055G>C
n.313G>C
c.4705G>C (p.Asp1569His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145759G=CA2004737529TBCEL-TECTA,TECTAc.3748G= (p.Asp1250=)
c.1055G=
n.313G=
c.4705G= (p.Asp1569=)
11g.121145759G>TCA383022179TBCEL-TECTA,TECTAc.3748G>T (p.Asp1250Tyr)
c.1055G>T
n.313G>T
c.4705G>T (p.Asp1569Tyr)
 gnomAD v4
11g.121145760A>CCA383022188TBCEL-TECTA,TECTAc.3749A>C (p.Asp1250Ala)
c.1056A>C
n.314A>C
c.4706A>C (p.Asp1569Ala)
11g.121145760A>GCA383022185TBCEL-TECTA,TECTAc.3749A>G (p.Asp1250Gly)
c.1056A>G
n.314A>G
c.4706A>G (p.Asp1569Gly)
11g.121145760A>TCA383022183TBCEL-TECTA,TECTAc.3749A>T (p.Asp1250Val)
c.1056A>T
n.314A>T
c.4706A>T (p.Asp1569Val)
11g.121145761T>ACA383022189TBCEL-TECTA,TECTAc.3750T>A (p.Asp1250Glu)
c.1057T>A
n.315T>A
c.4707T>A (p.Asp1569Glu)
 gnomAD v4
11g.121145761T>CCA6327287TBCEL-TECTA,TECTAc.3750T>C (p.Asp1250=)
c.1057T>C
n.315T>C
c.4707T>C (p.Asp1569=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145761T>GCA383022190TBCEL-TECTA,TECTAc.3750T>G (p.Asp1250Glu)
c.1057T>G
n.315T>G
c.4707T>G (p.Asp1569Glu)
11g.121145761T=CA2004737530TBCEL-TECTA,TECTAc.3750T= (p.Asp1250=)
c.1057T=
n.315T=
c.4707T= (p.Asp1569=)
11g.121145762G>ACA383022191TBCEL-TECTA,TECTAc.3751G>A (p.Asp1251Asn)
c.1058G>A
n.316G>A
c.4708G>A (p.Asp1570Asn)
11g.121145762G>CCA383022192TBCEL-TECTA,TECTAc.3751G>C (p.Asp1251His)
c.1058G>C
n.316G>C
c.4708G>C (p.Asp1570His)
11g.121145762G>TCA383022193TBCEL-TECTA,TECTAc.3751G>T (p.Asp1251Tyr)
c.1058G>T
n.316G>T
c.4708G>T (p.Asp1570Tyr)
11g.121145763A>CCA383022195TBCEL-TECTA,TECTAc.3752A>C (p.Asp1251Ala)
c.1059A>C
n.317A>C
c.4709A>C (p.Asp1570Ala)
11g.121145763A>GCA383022202TBCEL-TECTA,TECTAc.3752A>G (p.Asp1251Gly)
c.1059A>G
n.317A>G
c.4709A>G (p.Asp1570Gly)
 COSMIC
11g.121145763A>TCA383022197TBCEL-TECTA,TECTAc.3752A>T (p.Asp1251Val)
c.1059A>T
n.317A>T
c.4709A>T (p.Asp1570Val)
 gnomAD v4
11g.121145764C>ACA383022205TBCEL-TECTA,TECTAc.3753C>A (p.Asp1251Glu)
c.1060C>A
n.318C>A
c.4710C>A (p.Asp1570Glu)
11g.121145764C=CA2004737531TBCEL-TECTA,TECTAc.3753C= (p.Asp1251=)
c.1060C=
n.318C=
c.4710C= (p.Asp1570=)
11g.121145764C>GCA383022208TBCEL-TECTA,TECTAc.3753C>G (p.Asp1251Glu)
c.1060C>G
n.318C>G
c.4710C>G (p.Asp1570Glu)
11g.121145764C>TCA477382856TBCEL-TECTA,TECTAc.3753C>T (p.Asp1251=)
c.1060C>T
n.318C>T
c.4710C>T (p.Asp1570=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145765C>ACA383022211TBCEL-TECTA,TECTAc.3754C>A (p.Leu1252Met)
c.1061C>A
n.319C>A
c.4711C>A (p.Leu1571Met)
11g.121145765C>GCA383022212TBCEL-TECTA,TECTAc.3754C>G (p.Leu1252Val)
c.1061C>G
n.319C>G
c.4711C>G (p.Leu1571Val)
11g.121145765C>TCA477382857TBCEL-TECTA,TECTAc.3754C>T (p.Leu1252=)
c.1061C>T
n.319C>T
c.4711C>T (p.Leu1571=)
11g.121145766T>ACA383022213TBCEL-TECTA,TECTAc.3755T>A (p.Leu1252Gln)
c.1062T>A
n.320T>A
c.4712T>A (p.Leu1571Gln)
 gnomAD v4
11g.121145766T>CCA383022214TBCEL-TECTA,TECTAc.3755T>C (p.Leu1252Pro)
c.1062T>C
n.320T>C
c.4712T>C (p.Leu1571Pro)
 gnomAD v4
11g.121145766T>GCA383022215TBCEL-TECTA,TECTAc.3755T>G (p.Leu1252Arg)
c.1062T>G
n.320T>G
c.4712T>G (p.Leu1571Arg)
11g.121145767G>ACA477382858TBCEL-TECTA,TECTAc.3756G>A (p.Leu1252=)
c.1063G>A
n.321G>A
c.4713G>A (p.Leu1571=)
11g.121145767G>CCA477382859TBCEL-TECTA,TECTAc.3756G>C (p.Leu1252=)
c.1063G>C
n.321G>C
c.4713G>C (p.Leu1571=)
11g.121145767G>TCA477382860TBCEL-TECTA,TECTAc.3756G>T (p.Leu1252=)
c.1063G>T
n.321G>T
c.4713G>T (p.Leu1571=)
11g.121145768G>ACA383022216TBCEL-TECTA,TECTAc.3757G>A (p.Glu1253Lys)
c.1064G>A
n.322G>A
c.4714G>A (p.Glu1572Lys)
11g.121145768G>CCA383022218TBCEL-TECTA,TECTAc.3757G>C (p.Glu1253Gln)
c.1064G>C
n.322G>C
c.4714G>C (p.Glu1572Gln)
 COSMIC
11g.121145768G>TCA383022221TBCEL-TECTA,TECTAc.3757G>T (p.Glu1253Ter)
c.1064G>T
n.322G>T
c.4714G>T (p.Glu1572Ter)
11g.121145769A>CCA383022234TBCEL-TECTA,TECTAc.3758A>C (p.Glu1253Ala)
c.1065A>C
n.323A>C
c.4715A>C (p.Glu1572Ala)
11g.121145769A>GCA383022230TBCEL-TECTA,TECTAc.3758A>G (p.Glu1253Gly)
c.1065A>G
n.323A>G
c.4715A>G (p.Glu1572Gly)
11g.121145769A>TCA383022228TBCEL-TECTA,TECTAc.3758A>T (p.Glu1253Val)
c.1065A>T
n.323A>T
c.4715A>T (p.Glu1572Val)
11g.121145770G>ACA477382861TBCEL-TECTA,TECTAc.3759G>A (p.Glu1253=)
c.1066G>A
n.324G>A
c.4716G>A (p.Glu1572=)
11g.121145770G>CCA383022237TBCEL-TECTA,TECTAc.3759G>C (p.Glu1253Asp)
c.1066G>C
n.324G>C
c.4716G>C (p.Glu1572Asp)
11g.121145770G>TCA383022240TBCEL-TECTA,TECTAc.3759G>T (p.Glu1253Asp)
c.1066G>T
n.324G>T
c.4716G>T (p.Glu1572Asp)
 COSMIC
11g.121145771A=CA2004737532TBCEL-TECTA,TECTAc.3760A= (p.Met1254=)
c.1067A=
n.325A=
c.4717A= (p.Met1573=)
11g.121145771A>CCA383022246TBCEL-TECTA,TECTAc.3760A>C (p.Met1254Leu)
c.1067A>C
n.325A>C
c.4717A>C (p.Met1573Leu)
 gnomAD v4
11g.121145771A>GCA10637529TBCEL-TECTA,TECTAc.3760A>G (p.Met1254Val)
c.1067A>G
n.325A>G
c.4717A>G (p.Met1573Val)
 ClinVar dbSNP
11g.121145771A>TCA383022248TBCEL-TECTA,TECTAc.3760A>T (p.Met1254Leu)
c.1067A>T
n.325A>T
c.4717A>T (p.Met1573Leu)
11g.121145772T>ACA383022252TBCEL-TECTA,TECTAc.3761T>A (p.Met1254Lys)
c.1068T>A
n.326T>A
c.4718T>A (p.Met1573Lys)
11g.121145772T>CCA383022254TBCEL-TECTA,TECTAc.3761T>C (p.Met1254Thr)
c.1068T>C
n.326T>C
c.4718T>C (p.Met1573Thr)
 gnomAD v4
11g.121145772T>GCA383022257TBCEL-TECTA,TECTAc.3761T>G (p.Met1254Arg)
c.1068T>G
n.326T>G
c.4718T>G (p.Met1573Arg)
11g.121145773G>ACA10638056TBCEL-TECTA,TECTAc.3762G>A (p.Met1254Ile)
c.1069G>A
n.327G>A
c.4719G>A (p.Met1573Ile)
 ClinVar dbSNP
11g.121145773G>CCA383022264TBCEL-TECTA,TECTAc.3762G>C (p.Met1254Ile)
c.1069G>C
n.327G>C
c.4719G>C (p.Met1573Ile)
11g.121145773G=CA2004737533TBCEL-TECTA,TECTAc.3762G= (p.Met1254=)
c.1069G=
n.327G=
c.4719G= (p.Met1573=)
11g.121145773G>TCA383022271TBCEL-TECTA,TECTAc.3762G>T (p.Met1254Ile)
c.1069G>T
n.327G>T
c.4719G>T (p.Met1573Ile)
11g.121145774C>ACA383022273TBCEL-TECTA,TECTAc.3763C>A (p.Pro1255Thr)
c.1070C>A
n.328C>A
c.4720C>A (p.Pro1574Thr)
11g.121145774C=CA2004737534TBCEL-TECTA,TECTAc.3763C= (p.Pro1255=)
c.1070C=
n.328C=
c.4720C= (p.Pro1574=)
11g.121145774C>GCA383022275TBCEL-TECTA,TECTAc.3763C>G (p.Pro1255Ala)
c.1070C>G
n.328C>G
c.4720C>G (p.Pro1574Ala)
11g.121145774C>TCA383022277TBCEL-TECTA,TECTAc.3763C>T (p.Pro1255Ser)
c.1070C>T
n.328C>T
c.4720C>T (p.Pro1574Ser)
 dbSNP gnomAD v2
11g.121145775C>ACA383022280TBCEL-TECTA,TECTAc.3764C>A (p.Pro1255His)
c.1071C>A
n.329C>A
c.4721C>A (p.Pro1574His)
11g.121145775C>GCA383022283TBCEL-TECTA,TECTAc.3764C>G (p.Pro1255Arg)
c.1071C>G
n.329C>G
c.4721C>G (p.Pro1574Arg)
11g.121145775C>TCA383022287TBCEL-TECTA,TECTAc.3764C>T (p.Pro1255Leu)
c.1071C>T
n.329C>T
c.4721C>T (p.Pro1574Leu)
 gnomAD v4
11g.121145776C>ACA477382862TBCEL-TECTA,TECTAc.3765C>A (p.Pro1255=)
c.1072C>A
n.330C>A
c.4722C>A (p.Pro1574=)
11g.121145776C>GCA477382863TBCEL-TECTA,TECTAc.3765C>G (p.Pro1255=)
c.1072C>G
n.330C>G
c.4722C>G (p.Pro1574=)
11g.121145776C>TCA477382864TBCEL-TECTA,TECTAc.3765C>T (p.Pro1255=)
c.1072C>T
n.330C>T
c.4722C>T (p.Pro1574=)
11g.121145777A=CA2004737535TBCEL-TECTA,TECTAc.3766A= (p.Met1256=)
c.1073A=
n.331A=
c.4723A= (p.Met1575=)
11g.121145777A>CCA383022295TBCEL-TECTA,TECTAc.3766A>C (p.Met1256Leu)
c.1073A>C
n.331A>C
c.4723A>C (p.Met1575Leu)
11g.121145777A>GCA229831455TBCEL-TECTA,TECTAc.3766A>G (p.Met1256Val)
c.1073A>G
n.331A>G
c.4723A>G (p.Met1575Val)
 dbSNP gnomAD v4
11g.121145777A>TCA383022293TBCEL-TECTA,TECTAc.3766A>T (p.Met1256Leu)
c.1073A>T
n.331A>T
c.4723A>T (p.Met1575Leu)
11g.121145778T>ACA383022297TBCEL-TECTA,TECTAc.3767T>A (p.Met1256Lys)
c.1074T>A
n.332T>A
c.4724T>A (p.Met1575Lys)
 dbSNP gnomAD v3 gnomAD v4
11g.121145778T>CCA383022298TBCEL-TECTA,TECTAc.3767T>C (p.Met1256Thr)
c.1074T>C
n.332T>C
c.4724T>C (p.Met1575Thr)
11g.121145778T>GCA383022301TBCEL-TECTA,TECTAc.3767T>G (p.Met1256Arg)
c.1074T>G
n.332T>G
c.4724T>G (p.Met1575Arg)
11g.121145778T=CA2004737536TBCEL-TECTA,TECTAc.3767T= (p.Met1256=)
c.1074T=
n.332T=
c.4724T= (p.Met1575=)
11g.121145779G>ACA383022304TBCEL-TECTA,TECTAc.3768G>A (p.Met1256Ile)
c.1075G>A
n.333G>A
c.4725G>A (p.Met1575Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.121145779G>CCA383022305TBCEL-TECTA,TECTAc.3768G>C (p.Met1256Ile)
c.1075G>C
n.333G>C
c.4725G>C (p.Met1575Ile)
11g.121145779G=CA2004737537TBCEL-TECTA,TECTAc.3768G= (p.Met1256=)
c.1075G=
n.333G=
c.4725G= (p.Met1575=)
11g.121145779G>TCA383022306TBCEL-TECTA,TECTAc.3768G>T (p.Met1256Ile)
c.1075G>T
n.333G>T
c.4725G>T (p.Met1575Ile)
11g.121145780G>ACA183103TBCEL-TECTA,TECTAc.3769G>A (p.Gly1257Ser)
c.1076G>A
n.334G>A
c.4726G>A (p.Gly1576Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145780G>CCA383022309TBCEL-TECTA,TECTAc.3769G>C (p.Gly1257Arg)
c.1076G>C
n.334G>C
c.4726G>C (p.Gly1576Arg)
11g.121145780G=CA2004737538TBCEL-TECTA,TECTAc.3769G= (p.Gly1257=)
c.1076G=
n.334G=
c.4726G= (p.Gly1576=)
11g.121145780G>TCA383022312TBCEL-TECTA,TECTAc.3769G>T (p.Gly1257Cys)
c.1076G>T
n.334G>T
c.4726G>T (p.Gly1576Cys)
11g.121145781G>ACA383022316TBCEL-TECTA,TECTAc.3770G>A (p.Gly1257Asp)
c.1077G>A
n.335G>A
c.4727G>A (p.Gly1576Asp)
11g.121145781G>CCA383022319TBCEL-TECTA,TECTAc.3770G>C (p.Gly1257Ala)
c.1077G>C
n.335G>C
c.4727G>C (p.Gly1576Ala)
11g.121145781G>TCA383022323TBCEL-TECTA,TECTAc.3770G>T (p.Gly1257Val)
c.1077G>T
n.335G>T
c.4727G>T (p.Gly1576Val)
11g.121145782T>ACA477382867TBCEL-TECTA,TECTAc.3771T>A (p.Gly1257=)
c.1078T>A
n.336T>A
c.4728T>A (p.Gly1576=)
11g.121145782T>CCA477382865TBCEL-TECTA,TECTAc.3771T>C (p.Gly1257=)
c.1078T>C
n.336T>C
c.4728T>C (p.Gly1576=)
 gnomAD v4
11g.121145782T>GCA477382866TBCEL-TECTA,TECTAc.3771T>G (p.Gly1257=)
c.1078T>G
n.336T>G
c.4728T>G (p.Gly1576=)
11g.121145783C>ACA383022325TBCEL-TECTA,TECTAc.3772C>A (p.Leu1258Met)
c.1079C>A
n.337C>A
c.4729C>A (p.Leu1577Met)
11g.121145783C>GCA383022324TBCEL-TECTA,TECTAc.3772C>G (p.Leu1258Val)
c.1079C>G
n.337C>G
c.4729C>G (p.Leu1577Val)
11g.121145783C>TCA477382868TBCEL-TECTA,TECTAc.3772C>T (p.Leu1258=)
c.1079C>T
n.337C>T
c.4729C>T (p.Leu1577=)
11g.121145784T>ACA383022326TBCEL-TECTA,TECTAc.3773T>A (p.Leu1258Gln)
c.1080T>A
n.338T>A
c.4730T>A (p.Leu1577Gln)
 ClinVar gnomAD v4
11g.121145784T>CCA383022328TBCEL-TECTA,TECTAc.3773T>C (p.Leu1258Pro)
c.1080T>C
n.338T>C
c.4730T>C (p.Leu1577Pro)
11g.121145784T>GCA383022330TBCEL-TECTA,TECTAc.3773T>G (p.Leu1258Arg)
c.1080T>G
n.338T>G
c.4730T>G (p.Leu1577Arg)
11g.121145785G>ACA477382869TBCEL-TECTA,TECTAc.3774G>A (p.Leu1258=)
c.1081G>A
n.339G>A
c.4731G>A (p.Leu1577=)
11g.121145785G>CCA477382870TBCEL-TECTA,TECTAc.3774G>C (p.Leu1258=)
c.1081G>C
n.339G>C
c.4731G>C (p.Leu1577=)
11g.121145785G>TCA477382871TBCEL-TECTA,TECTAc.3774G>T (p.Leu1258=)
c.1081G>T
n.339G>T
c.4731G>T (p.Leu1577=)
 COSMIC
11g.121145786C>ACA383022333TBCEL-TECTA,TECTAc.3775C>A (p.Leu1259Ile)
c.1082C>A
n.340C>A
c.4732C>A (p.Leu1578Ile)
11g.121145786C>GCA383022335TBCEL-TECTA,TECTAc.3775C>G (p.Leu1259Val)
c.1082C>G
n.340C>G
c.4732C>G (p.Leu1578Val)
11g.121145786C>TCA383022339TBCEL-TECTA,TECTAc.3775C>T (p.Leu1259Phe)
c.1082C>T
n.340C>T
c.4732C>T (p.Leu1578Phe)
11g.121145787T>ACA383022343TBCEL-TECTA,TECTAc.3776T>A (p.Leu1259His)
c.1083T>A
n.341T>A
c.4733T>A (p.Leu1578His)
11g.121145787T>CCA6327288TBCEL-TECTA,TECTAc.3776T>C (p.Leu1259Pro)
c.1083T>C
n.341T>C
c.4733T>C (p.Leu1578Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145787T>GCA383022341TBCEL-TECTA,TECTAc.3776T>G (p.Leu1259Arg)
c.1083T>G
n.341T>G
c.4733T>G (p.Leu1578Arg)
11g.121145787T=CA2004737539TBCEL-TECTA,TECTAc.3776T= (p.Leu1259=)
c.1083T=
n.341T=
c.4733T= (p.Leu1578=)
11g.121145788T>ACA477382872TBCEL-TECTA,TECTAc.3777T>A (p.Leu1259=)
c.1084T>A
n.342T>A
c.4734T>A (p.Leu1578=)
11g.121145788T>CCA477382873TBCEL-TECTA,TECTAc.3777T>C (p.Leu1259=)
c.1084T>C
n.342T>C
c.4734T>C (p.Leu1578=)
11g.121145788T>GCA477382874TBCEL-TECTA,TECTAc.3777T>G (p.Leu1259=)
c.1084T>G
n.342T>G
c.4734T>G (p.Leu1578=)
11g.121145789G>ACA6327289TBCEL-TECTA,TECTAc.3778G>A (p.Ala1260Thr)
c.1085G>A
n.343G>A
c.4735G>A (p.Ala1579Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145789G>CCA383022358TBCEL-TECTA,TECTAc.3778G>C (p.Ala1260Pro)
c.1085G>C
n.343G>C
c.4735G>C (p.Ala1579Pro)
 dbSNP
11g.121145789G=CA2004737540TBCEL-TECTA,TECTAc.3778G= (p.Ala1260=)
c.1085G=
n.343G=
c.4735G= (p.Ala1579=)
11g.121145789G>TCA383022363TBCEL-TECTA,TECTAc.3778G>T (p.Ala1260Ser)
c.1085G>T
n.343G>T
c.4735G>T (p.Ala1579Ser)
 gnomAD v4
11g.121145790C>ACA383022368TBCEL-TECTA,TECTAc.3779C>A (p.Ala1260Glu)
c.1086C>A
n.344C>A
c.4736C>A (p.Ala1579Glu)
11g.121145790C>GCA383022372TBCEL-TECTA,TECTAc.3779C>G (p.Ala1260Gly)
c.1086C>G
n.344C>G
c.4736C>G (p.Ala1579Gly)
11g.121145790C>TCA383022374TBCEL-TECTA,TECTAc.3779C>T (p.Ala1260Val)
c.1086C>T
n.344C>T
c.4736C>T (p.Ala1579Val)
11g.121145791A=CA2004737541TBCEL-TECTA,TECTAc.3780A= (p.Ala1260=)
c.1087A=
n.345A=
c.4737A= (p.Ala1579=)
11g.121145791A>CCA477382877TBCEL-TECTA,TECTAc.3780A>C (p.Ala1260=)
c.1087A>C
n.345A>C
c.4737A>C (p.Ala1579=)
11g.121145791A>GCA477382876TBCEL-TECTA,TECTAc.3780A>G (p.Ala1260=)
c.1087A>G
n.345A>G
c.4737A>G (p.Ala1579=)
 gnomAD v4
11g.121145791A>TCA477382875TBCEL-TECTA,TECTAc.3780A>T (p.Ala1260=)
c.1087A>T
n.345A>T
c.4737A>T (p.Ala1579=)
11g.121145792T>ACA383022375TBCEL-TECTA,TECTAc.3781T>A (p.Ser1261Thr)
c.1088T>A
n.346T>A
c.4738T>A (p.Ser1580Thr)
11g.121145792T>CCA383022377TBCEL-TECTA,TECTAc.3781T>C (p.Ser1261Pro)
c.1088T>C
n.346T>C
c.4738T>C (p.Ser1580Pro)
11g.121145792T>GCA383022376TBCEL-TECTA,TECTAc.3781T>G (p.Ser1261Ala)
c.1088T>G
n.346T>G
c.4738T>G (p.Ser1580Ala)
11g.121145793_121145797dupCA672607265TBCEL-TECTA,TECTAc.3782_3786dup (p.Val1263ArgfsTer11)
c.1089_1093dup
n.347_351dup
c.4739_4743dup (p.Val1582ArgfsTer11)
 dbSNP gnomAD v3 gnomAD v4
11g.121145793C>ACA383022380TBCEL-TECTA,TECTAc.3782C>A (p.Ser1261Ter)
c.1089C>A
n.347C>A
c.4739C>A (p.Ser1580Ter)
11g.121145793C=CA2004737542TBCEL-TECTA,TECTAc.3782C= (p.Ser1261=)
c.1089C=
n.347C=
c.4739C= (p.Ser1580=)
11g.121145793C>GCA383022382TBCEL-TECTA,TECTAc.3782C>G (p.Ser1261Trp)
c.1089C>G
n.347C>G
c.4739C>G (p.Ser1580Trp)
11g.121145793C>TCA383022383TBCEL-TECTA,TECTAc.3782C>T (p.Ser1261Leu)
c.1089C>T
n.347C>T
c.4739C>T (p.Ser1580Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145794G>ACA477382878TBCEL-TECTA,TECTAc.3783G>A (p.Ser1261=)
c.1090G>A
n.348G>A
c.4740G>A (p.Ser1580=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145794G>CCA477382879TBCEL-TECTA,TECTAc.3783G>C (p.Ser1261=)
c.1090G>C
n.348G>C
c.4740G>C (p.Ser1580=)
11g.121145794G=CA2004737543TBCEL-TECTA,TECTAc.3783G= (p.Ser1261=)
c.1090G=
n.348G=
c.4740G= (p.Ser1580=)
11g.121145794G>TCA477382880TBCEL-TECTA,TECTAc.3783G>T (p.Ser1261=)
c.1090G>T
n.348G>T
c.4740G>T (p.Ser1580=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145795A>CCA383022387TBCEL-TECTA,TECTAc.3784A>C (p.Ser1262Arg)
c.1091A>C
n.349A>C
c.4741A>C (p.Ser1581Arg)
11g.121145795A>GCA383022389TBCEL-TECTA,TECTAc.3784A>G (p.Ser1262Gly)
c.1091A>G
n.349A>G
c.4741A>G (p.Ser1581Gly)
11g.121145795A>TCA383022391TBCEL-TECTA,TECTAc.3784A>T (p.Ser1262Cys)
c.1091A>T
n.349A>T
c.4741A>T (p.Ser1581Cys)
11g.121145796G>ACA383022393TBCEL-TECTA,TECTAc.3785G>A (p.Ser1262Asn)
c.1092G>A
n.350G>A
c.4742G>A (p.Ser1581Asn)
11g.121145796G>CCA383022395TBCEL-TECTA,TECTAc.3785G>C (p.Ser1262Thr)
c.1092G>C
n.350G>C
c.4742G>C (p.Ser1581Thr)
11g.121145796G=CA2004737544TBCEL-TECTA,TECTAc.3785G= (p.Ser1262=)
c.1092G=
n.350G=
c.4742G= (p.Ser1581=)
11g.121145796G>TCA6327290TBCEL-TECTA,TECTAc.3785G>T (p.Ser1262Ile)
c.1092G>T
n.350G>T
c.4742G>T (p.Ser1581Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145797T>ACA383022399TBCEL-TECTA,TECTAc.3786T>A (p.Ser1262Arg)
c.1093T>A
n.351T>A
c.4743T>A (p.Ser1581Arg)
11g.121145797T>CCA477382881TBCEL-TECTA,TECTAc.3786T>C (p.Ser1262=)
c.1093T>C
n.351T>C
c.4743T>C (p.Ser1581=)
 gnomAD v4
11g.121145797T>GCA383022401TBCEL-TECTA,TECTAc.3786T>G (p.Ser1262Arg)
c.1093T>G
n.351T>G
c.4743T>G (p.Ser1581Arg)
11g.121145798G>ACA383022403TBCEL-TECTA,TECTAc.3787G>A (p.Val1263Ile)
c.1094G>A
n.352G>A
c.4744G>A (p.Val1582Ile)
 dbSNP
11g.121145798G>CCA383022407TBCEL-TECTA,TECTAc.3787G>C (p.Val1263Leu)
c.1094G>C
n.352G>C
c.4744G>C (p.Val1582Leu)
11g.121145798G=CA2004737545TBCEL-TECTA,TECTAc.3787G= (p.Val1263=)
c.1094G=
n.352G=
c.4744G= (p.Val1582=)
11g.121145798G>TCA383022405TBCEL-TECTA,TECTAc.3787G>T (p.Val1263Phe)
c.1094G>T
n.352G>T
c.4744G>T (p.Val1582Phe)
 dbSNP gnomAD v4
11g.121145799T>ACA383022409TBCEL-TECTA,TECTAc.3788T>A (p.Val1263Asp)
c.1095T>A
n.353T>A
c.4745T>A (p.Val1582Asp)
11g.121145799T>CCA383022414TBCEL-TECTA,TECTAc.3788T>C (p.Val1263Ala)
c.1095T>C
n.353T>C
c.4745T>C (p.Val1582Ala)
11g.121145799T>GCA383022412TBCEL-TECTA,TECTAc.3788T>G (p.Val1263Gly)
c.1095T>G
n.353T>G
c.4745T>G (p.Val1582Gly)
11g.121145800C>ACA477382882TBCEL-TECTA,TECTAc.3789C>A (p.Val1263=)
c.1096C>A
n.354C>A
c.4746C>A (p.Val1582=)
11g.121145800C>GCA477382883TBCEL-TECTA,TECTAc.3789C>G (p.Val1263=)
c.1096C>G
n.354C>G
c.4746C>G (p.Val1582=)
11g.121145800C>TCA477382884TBCEL-TECTA,TECTAc.3789C>T (p.Val1263=)
c.1096C>T
n.354C>T
c.4746C>T (p.Val1582=)
11g.121145801A=CA2004737546TBCEL-TECTA,TECTAc.3790A= (p.Asn1264=)
c.1097A=
n.355A=
c.4747A= (p.Asn1583=)
11g.121145801A>CCA383022416TBCEL-TECTA,TECTAc.3790A>C (p.Asn1264His)
c.1097A>C
n.355A>C
c.4747A>C (p.Asn1583His)
 dbSNP
11g.121145801A>GCA383022418TBCEL-TECTA,TECTAc.3790A>G (p.Asn1264Asp)
c.1097A>G
n.355A>G
c.4747A>G (p.Asn1583Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121145801A>TCA383022420TBCEL-TECTA,TECTAc.3790A>T (p.Asn1264Tyr)
c.1097A>T
n.355A>T
c.4747A>T (p.Asn1583Tyr)
11g.121145802A=CA2004737547TBCEL-TECTA,TECTAc.3791A= (p.Asn1264=)
c.1098A=
n.356A=
c.4748A= (p.Asn1583=)
11g.121145802A>CCA383022423TBCEL-TECTA,TECTAc.3791A>C (p.Asn1264Thr)
c.1098A>C
n.356A>C
c.4748A>C (p.Asn1583Thr)
11g.121145802A>GCA6327291TBCEL-TECTA,TECTAc.3791A>G (p.Asn1264Ser)
c.1098A>G
n.356A>G
c.4748A>G (p.Asn1583Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145802A>TCA383022426TBCEL-TECTA,TECTAc.3791A>T (p.Asn1264Ile)
c.1098A>T
n.356A>T
c.4748A>T (p.Asn1583Ile)
11g.121145803T>ACA383022429TBCEL-TECTA,TECTAc.3792T>A (p.Asn1264Lys)
c.1099T>A
n.357T>A
c.4749T>A (p.Asn1583Lys)
11g.121145803T>CCA477382887TBCEL-TECTA,TECTAc.3792T>C (p.Asn1264=)
c.1099T>C
n.357T>C
c.4749T>C (p.Asn1583=)
11g.121145803T>GCA383022431TBCEL-TECTA,TECTAc.3792T>G (p.Asn1264Lys)
c.1099T>G
n.357T>G
c.4749T>G (p.Asn1583Lys)
 gnomAD v4
11g.121145804G>ACA383022435TBCEL-TECTA,TECTAc.3793G>A (p.Glu1265Lys)
c.1100G>A
n.358G>A
c.4750G>A (p.Glu1584Lys)
 gnomAD v4
11g.121145804G>CCA383022436TBCEL-TECTA,TECTAc.3793G>C (p.Glu1265Gln)
c.1100G>C
n.358G>C
c.4750G>C (p.Glu1584Gln)
11g.121145804G>TCA383022438TBCEL-TECTA,TECTAc.3793G>T (p.Glu1265Ter)
c.1100G>T
n.358G>T
c.4750G>T (p.Glu1584Ter)
11g.121145805A>CCA383022444TBCEL-TECTA,TECTAc.3794A>C (p.Glu1265Ala)
c.1101A>C
n.359A>C
c.4751A>C (p.Glu1584Ala)
11g.121145805A>GCA383022440TBCEL-TECTA,TECTAc.3794A>G (p.Glu1265Gly)
c.1101A>G
n.359A>G
c.4751A>G (p.Glu1584Gly)
11g.121145805A>TCA383022442TBCEL-TECTA,TECTAc.3794A>T (p.Glu1265Val)
c.1101A>T
n.359A>T
c.4751A>T (p.Glu1584Val)
11g.121145806G>ACA477382888TBCEL-TECTA,TECTAc.3795G>A (p.Glu1265=)
c.1102G>A
n.360G>A
c.4752G>A (p.Glu1584=)
11g.121145806G>CCA383022447TBCEL-TECTA,TECTAc.3795G>C (p.Glu1265Asp)
c.1102G>C
n.360G>C
c.4752G>C (p.Glu1584Asp)
 gnomAD v4
11g.121145806G>TCA383022449TBCEL-TECTA,TECTAc.3795G>T (p.Glu1265Asp)
c.1102G>T
n.360G>T
c.4752G>T (p.Glu1584Asp)
11g.121145807T>ACA383022451TBCEL-TECTA,TECTAc.3796T>A (p.Phe1266Ile)
c.1103T>A
n.361T>A
c.4753T>A (p.Phe1585Ile)
11g.121145807T>CCA383022452TBCEL-TECTA,TECTAc.3796T>C (p.Phe1266Leu)
c.1103T>C
n.361T>C
c.4753T>C (p.Phe1585Leu)
11g.121145807T>GCA383022453TBCEL-TECTA,TECTAc.3796T>G (p.Phe1266Val)
c.1103T>G
n.361T>G
c.4753T>G (p.Phe1585Val)
11g.121145809dupCA645593863TBCEL-TECTA,TECTAc.3798dup (p.Gly1267TrpfsTer?)
c.1105dup
n.363dup
c.4755dup (p.Gly1586TrpfsTer?)
 COSMIC
11g.121145808T>ACA383022454TBCEL-TECTA,TECTAc.3797T>A (p.Phe1266Tyr)
c.1104T>A
n.362T>A
c.4754T>A (p.Phe1585Tyr)
11g.121145808T>CCA383022455TBCEL-TECTA,TECTAc.3797T>C (p.Phe1266Ser)
c.1104T>C
n.362T>C
c.4754T>C (p.Phe1585Ser)
 gnomAD v4
11g.121145808T>GCA383022457TBCEL-TECTA,TECTAc.3797T>G (p.Phe1266Cys)
c.1104T>G
n.362T>G
c.4754T>G (p.Phe1585Cys)
11g.121145809T>ACA383022459TBCEL-TECTA,TECTAc.3798T>A (p.Phe1266Leu)
c.1105T>A
n.363T>A
c.4755T>A (p.Phe1585Leu)
11g.121145809T>CCA477382890TBCEL-TECTA,TECTAc.3798T>C (p.Phe1266=)
c.1105T>C
n.363T>C
c.4755T>C (p.Phe1585=)
11g.121145809T>GCA383022460TBCEL-TECTA,TECTAc.3798T>G (p.Phe1266Leu)
c.1105T>G
n.363T>G
c.4755T>G (p.Phe1585Leu)
11g.121145810G>ACA383022465TBCEL-TECTA,TECTAc.3799G>A (p.Gly1267Arg)
c.1106G>A
n.364G>A
c.4756G>A (p.Gly1586Arg)
 gnomAD v4
11g.121145810G>CCA383022467TBCEL-TECTA,TECTAc.3799G>C (p.Gly1267Arg)
c.1106G>C
n.364G>C
c.4756G>C (p.Gly1586Arg)
11g.121145810G>TCA383022461TBCEL-TECTA,TECTAc.3799G>T (p.Gly1267Trp)
c.1106G>T
n.364G>T
c.4756G>T (p.Gly1586Trp)
 dbSNP
11g.121145811G>ACA383022471TBCEL-TECTA,TECTAc.3800G>A (p.Gly1267Glu)
c.1107G>A
n.365G>A
c.4757G>A (p.Gly1586Glu)
 gnomAD v4
11g.121145811G>CCA383022473TBCEL-TECTA,TECTAc.3800G>C (p.Gly1267Ala)
c.1107G>C
n.365G>C
c.4757G>C (p.Gly1586Ala)
11g.121145811G>TCA383022474TBCEL-TECTA,TECTAc.3800G>T (p.Gly1267Val)
c.1107G>T
n.365G>T
c.4757G>T (p.Gly1586Val)
11g.121145812G>ACA477382892TBCEL-TECTA,TECTAc.3801G>A (p.Gly1267=)
c.1108G>A
n.366G>A
c.4758G>A (p.Gly1586=)
11g.121145812G>CCA477382894TBCEL-TECTA,TECTAc.3801G>C (p.Gly1267=)
c.1108G>C
n.366G>C
c.4758G>C (p.Gly1586=)
11g.121145812G>TCA477382895TBCEL-TECTA,TECTAc.3801G>T (p.Gly1267=)
c.1108G>T
n.366G>T
c.4758G>T (p.Gly1586=)
11g.121145813C>ACA383022477TBCEL-TECTA,TECTAc.3802C>A (p.Gln1268Lys)
c.1109C>A
n.367C>A
c.4759C>A (p.Gln1587Lys)
11g.121145813C>GCA383022479TBCEL-TECTA,TECTAc.3802C>G (p.Gln1268Glu)
c.1109C>G
n.367C>G
c.4759C>G (p.Gln1587Glu)
11g.121145813C>TCA383022480TBCEL-TECTA,TECTAc.3802C>T (p.Gln1268Ter)
c.1109C>T
n.367C>T
c.4759C>T (p.Gln1587Ter)
11g.121145814A=CA2004737548TBCEL-TECTA,TECTAc.3803A= (p.Gln1268=)
c.1110A=
n.368A=
c.4760A= (p.Gln1587=)
11g.121145814A>CCA383022481TBCEL-TECTA,TECTAc.3803A>C (p.Gln1268Pro)
c.1110A>C
n.368A>C
c.4760A>C (p.Gln1587Pro)
11g.121145814A>GCA383022483TBCEL-TECTA,TECTAc.3803A>G (p.Gln1268Arg)
c.1110A>G
n.368A>G
c.4760A>G (p.Gln1587Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145814A>TCA383022485TBCEL-TECTA,TECTAc.3803A>T (p.Gln1268Leu)
c.1110A>T
n.368A>T
c.4760A>T (p.Gln1587Leu)
11g.121145815G>ACA477382898TBCEL-TECTA,TECTAc.3804G>A (p.Gln1268=)
c.1111G>A
n.369G>A
c.4761G>A (p.Gln1587=)
11g.121145815G>CCA383022487TBCEL-TECTA,TECTAc.3804G>C (p.Gln1268His)
c.1111G>C
n.369G>C
c.4761G>C (p.Gln1587His)
 gnomAD v4
11g.121145815G>TCA383022489TBCEL-TECTA,TECTAc.3804G>T (p.Gln1268His)
c.1111G>T
n.369G>T
c.4761G>T (p.Gln1587His)
11g.121145816A>CCA383022495TBCEL-TECTA,TECTAc.3805A>C (p.Ser1269Arg)
c.1112A>C
n.370A>C
c.4762A>C (p.Ser1588Arg)
11g.121145816A>GCA383022497TBCEL-TECTA,TECTAc.3805A>G (p.Ser1269Gly)
c.1112A>G
n.370A>G
c.4762A>G (p.Ser1588Gly)
11g.121145816A>TCA383022493TBCEL-TECTA,TECTAc.3805A>T (p.Ser1269Cys)
c.1112A>T
n.370A>T
c.4762A>T (p.Ser1588Cys)
11g.121145817G>ACA383022500TBCEL-TECTA,TECTAc.3806G>A (p.Ser1269Asn)
c.1113G>A
n.371G>A
c.4763G>A (p.Ser1588Asn)
11g.121145817G>CCA383022503TBCEL-TECTA,TECTAc.3806G>C (p.Ser1269Thr)
c.1113G>C
n.371G>C
c.4763G>C (p.Ser1588Thr)
11g.121145817G>TCA383022505TBCEL-TECTA,TECTAc.3806G>T (p.Ser1269Ile)
c.1113G>T
n.371G>T
c.4763G>T (p.Ser1588Ile)
11g.121145818C>ACA383022508TBCEL-TECTA,TECTAc.3807C>A (p.Ser1269Arg)
c.1114C>A
n.372C>A
c.4764C>A (p.Ser1588Arg)
11g.121145818C>GCA383022509TBCEL-TECTA,TECTAc.3807C>G (p.Ser1269Arg)
c.1114C>G
n.372C>G
c.4764C>G (p.Ser1588Arg)
11g.121145818C>TCA477382902TBCEL-TECTA,TECTAc.3807C>T (p.Ser1269=)
c.1114C>T
n.372C>T
c.4764C>T (p.Ser1588=)
11g.121145819T>ACA383022517TBCEL-TECTA,TECTAc.3808T>A (p.Trp1270Arg)
c.1115T>A
n.373T>A
c.4765T>A (p.Trp1589Arg)
11g.121145819T>CCA383022513TBCEL-TECTA,TECTAc.3808T>C (p.Trp1270Arg)
c.1115T>C
n.373T>C
c.4765T>C (p.Trp1589Arg)
11g.121145819T>GCA383022515TBCEL-TECTA,TECTAc.3808T>G (p.Trp1270Gly)
c.1115T>G
n.373T>G
c.4765T>G (p.Trp1589Gly)
11g.121145820G>ACA383022520TBCEL-TECTA,TECTAc.3809G>A (p.Trp1270Ter)
c.1116G>A
n.374G>A
c.4766G>A (p.Trp1589Ter)
11g.121145820G>CCA383022523TBCEL-TECTA,TECTAc.3809G>C (p.Trp1270Ser)
c.1116G>C
n.374G>C
c.4766G>C (p.Trp1589Ser)
 gnomAD v4
11g.121145820G=CA2004737549TBCEL-TECTA,TECTAc.3809G= (p.Trp1270=)
c.1116G=
n.374G=
c.4766G= (p.Trp1589=)
11g.121145820G>TCA383022525TBCEL-TECTA,TECTAc.3809G>T (p.Trp1270Leu)
c.1116G>T
n.374G>T
c.4766G>T (p.Trp1589Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145821G>ACA383022528TBCEL-TECTA,TECTAc.3810G>A (p.Trp1270Ter)
c.1117G>A
n.375G>A
c.4767G>A (p.Trp1589Ter)
11g.121145821G>CCA383022530TBCEL-TECTA,TECTAc.3810G>C (p.Trp1270Cys)
c.1117G>C
n.375G>C
c.4767G>C (p.Trp1589Cys)
11g.121145821G>TCA383022531TBCEL-TECTA,TECTAc.3810G>T (p.Trp1270Cys)
c.1117G>T
n.375G>T
c.4767G>T (p.Trp1589Cys)
11g.121145822G>ACA383022537TBCEL-TECTA,TECTAc.3811G>A (p.Val1271Met)
c.1118G>A
n.376G>A
c.4768G>A (p.Val1590Met)
 gnomAD v4
11g.121145822G>CCA383022539TBCEL-TECTA,TECTAc.3811G>C (p.Val1271Leu)
c.1118G>C
n.376G>C
c.4768G>C (p.Val1590Leu)
11g.121145822G>TCA383022535TBCEL-TECTA,TECTAc.3811G>T (p.Val1271Leu)
c.1118G>T
n.376G>T
c.4768G>T (p.Val1590Leu)
11g.121145823T>ACA383022542TBCEL-TECTA,TECTAc.3812T>A (p.Val1271Glu)
c.1119T>A
n.377T>A
c.4769T>A (p.Val1590Glu)
11g.121145823T>CCA383022544TBCEL-TECTA,TECTAc.3812T>C (p.Val1271Ala)
c.1119T>C
n.377T>C
c.4769T>C (p.Val1590Ala)
11g.121145823T>GCA229831477TBCEL-TECTA,TECTAc.3812T>G (p.Val1271Gly)
c.1119T>G
n.377T>G
c.4769T>G (p.Val1590Gly)
 dbSNP
11g.121145823T=CA2004737550TBCEL-TECTA,TECTAc.3812T= (p.Val1271=)
c.1119T=
n.377T=
c.4769T= (p.Val1590=)
11g.121145824G>ACA6327292TBCEL-TECTA,TECTAc.3813G>A (p.Val1271=)
c.1120G>A
n.378G>A
c.4770G>A (p.Val1590=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145824G>CCA477382908TBCEL-TECTA,TECTAc.3813G>C (p.Val1271=)
c.1120G>C
n.378G>C
c.4770G>C (p.Val1590=)
11g.121145824G=CA2004737551TBCEL-TECTA,TECTAc.3813G= (p.Val1271=)
c.1120G=
n.378G=
c.4770G= (p.Val1590=)
11g.121145824G>TCA477382907TBCEL-TECTA,TECTAc.3813G>T (p.Val1271=)
c.1120G>T
n.378G>T
c.4770G>T (p.Val1590=)
11g.121145825A>CCA383022550TBCEL-TECTA,TECTAc.3814A>C (p.Lys1272Gln)
c.1121A>C
n.379A>C
c.4771A>C (p.Lys1591Gln)
11g.121145825A>GCA383022552TBCEL-TECTA,TECTAc.3814A>G (p.Lys1272Glu)
c.1121A>G
n.379A>G
c.4771A>G (p.Lys1591Glu)
11g.121145825A>TCA383022555TBCEL-TECTA,TECTAc.3814A>T (p.Lys1272Ter)
c.1121A>T
n.379A>T
c.4771A>T (p.Lys1591Ter)
11g.121145826A>CCA383022557TBCEL-TECTA,TECTAc.3815A>C (p.Lys1272Thr)
c.1122A>C
n.380A>C
c.4772A>C (p.Lys1591Thr)
11g.121145826A>GCA383022561TBCEL-TECTA,TECTAc.3815A>G (p.Lys1272Arg)
c.1122A>G
n.380A>G
c.4772A>G (p.Lys1591Arg)
 gnomAD v4
11g.121145826A>TCA383022559TBCEL-TECTA,TECTAc.3815A>T (p.Lys1272Met)
c.1122A>T
n.380A>T
c.4772A>T (p.Lys1591Met)
11g.121145827G>ACA477382912TBCEL-TECTA,TECTAc.3816G>A (p.Lys1272=)
c.1123G>A
n.381G>A
c.4773G>A (p.Lys1591=)
 dbSNP gnomAD v4 COSMIC
11g.121145827G>CCA383022564TBCEL-TECTA,TECTAc.3816G>C (p.Lys1272Asn)
c.1123G>C
n.381G>C
c.4773G>C (p.Lys1591Asn)
 gnomAD v4
11g.121145827G=CA2004737552TBCEL-TECTA,TECTAc.3816G= (p.Lys1272=)
c.1123G=
n.381G=
c.4773G= (p.Lys1591=)
11g.121145827G>TCA383022566TBCEL-TECTA,TECTAc.3816G>T (p.Lys1272Asn)
c.1123G>T
n.381G>T
c.4773G>T (p.Lys1591Asn)
 gnomAD v4
11g.121145828A=CA2004737553TBCEL-TECTA,TECTAc.3817A= (p.Arg1273=)
c.1124A=
n.382A=
c.4774A= (p.Arg1592=)
11g.121145828A>CCA477382913TBCEL-TECTA,TECTAc.3817A>C (p.Arg1273=)
c.1124A>C
n.382A>C
c.4774A>C (p.Arg1592=)
11g.121145828A>GCA6327293TBCEL-TECTA,TECTAc.3817A>G (p.Arg1273Gly)
c.1124A>G
n.382A>G
c.4774A>G (p.Arg1592Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145828A>TCA383022567TBCEL-TECTA,TECTAc.3817A>T (p.Arg1273Trp)
c.1124A>T
n.382A>T
c.4774A>T (p.Arg1592Trp)
11g.121145829G>ACA383022570TBCEL-TECTA,TECTAc.3818G>A (p.Arg1273Lys)
c.1125G>A
n.383G>A
c.4775G>A (p.Arg1592Lys)
11g.121145829G>CCA383022568TBCEL-TECTA,TECTAc.3818G>C (p.Arg1273Thr)
c.1125G>C
n.383G>C
c.4775G>C (p.Arg1592Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121145829G=CA2004737554TBCEL-TECTA,TECTAc.3818G= (p.Arg1273=)
c.1125G=
n.383G=
c.4775G= (p.Arg1592=)
11g.121145829G>TCA383022569TBCEL-TECTA,TECTAc.3818G>T (p.Arg1273Met)
c.1125G>T
n.383G>T
c.4775G>T (p.Arg1592Met)
11g.121145830G>ACA477382915TBCEL-TECTA,TECTAc.3819G>A (p.Arg1273=)
c.1126G>A
n.384G>A
c.4776G>A (p.Arg1592=)
 COSMIC
11g.121145830G>CCA383022571TBCEL-TECTA,TECTAc.3819G>C (p.Arg1273Ser)
c.1126G>C
n.384G>C
c.4776G>C (p.Arg1592Ser)
11g.121145830G>TCA383022572TBCEL-TECTA,TECTAc.3819G>T (p.Arg1273Ser)
c.1126G>T
n.384G>T
c.4776G>T (p.Arg1592Ser)
11g.121145831G>ACA383022573TBCEL-TECTA,TECTAc.3820G>A (p.Asp1274Asn)
c.1127G>A
n.385G>A
c.4777G>A (p.Asp1593Asn)
 gnomAD v4
11g.121145831G>CCA383022574TBCEL-TECTA,TECTAc.3820G>C (p.Asp1274His)
c.1127G>C
n.385G>C
c.4777G>C (p.Asp1593His)
11g.121145831G>TCA383022575TBCEL-TECTA,TECTAc.3820G>T (p.Asp1274Tyr)
c.1127G>T
n.385G>T
c.4777G>T (p.Asp1593Tyr)
11g.121145832A>CCA383022576TBCEL-TECTA,TECTAc.3821A>C (p.Asp1274Ala)
c.1128A>C
n.386A>C
c.4778A>C (p.Asp1593Ala)
11g.121145832A>GCA383022577TBCEL-TECTA,TECTAc.3821A>G (p.Asp1274Gly)
c.1128A>G
n.386A>G
c.4778A>G (p.Asp1593Gly)
11g.121145832A>TCA383022578TBCEL-TECTA,TECTAc.3821A>T (p.Asp1274Val)
c.1128A>T
n.386A>T
c.4778A>T (p.Asp1593Val)
11g.121145833C>ACA383022579TBCEL-TECTA,TECTAc.3822C>A (p.Asp1274Glu)
c.1129C>A
n.387C>A
c.4779C>A (p.Asp1593Glu)
11g.121145833C>GCA383022580TBCEL-TECTA,TECTAc.3822C>G (p.Asp1274Glu)
c.1129C>G
n.387C>G
c.4779C>G (p.Asp1593Glu)
11g.121145833C>TCA477382918TBCEL-TECTA,TECTAc.3822C>T (p.Asp1274=)
c.1129C>T
n.387C>T
c.4779C>T (p.Asp1593=)
11g.121145834A>CCA383022581TBCEL-TECTA,TECTAc.3823A>C (p.Thr1275Pro)
c.1130A>C
n.388A>C
c.4780A>C (p.Thr1594Pro)
11g.121145834A>GCA383022582TBCEL-TECTA,TECTAc.3823A>G (p.Thr1275Ala)
c.1130A>G
n.388A>G
c.4780A>G (p.Thr1594Ala)
11g.121145834A>TCA383022583TBCEL-TECTA,TECTAc.3823A>T (p.Thr1275Ser)
c.1130A>T
n.388A>T
c.4780A>T (p.Thr1594Ser)
11g.121145835C>ACA383022586TBCEL-TECTA,TECTAc.3824C>A (p.Thr1275Asn)
c.1131C>A
n.389C>A
c.4781C>A (p.Thr1594Asn)
 COSMIC
11g.121145835C>GCA383022584TBCEL-TECTA,TECTAc.3824C>G (p.Thr1275Ser)
c.1131C>G
n.389C>G
c.4781C>G (p.Thr1594Ser)
11g.121145835C>TCA383022585TBCEL-TECTA,TECTAc.3824C>T (p.Thr1275Ile)
c.1131C>T
n.389C>T
c.4781C>T (p.Thr1594Ile)
11g.121145835_121145838delinsCCTTCA2004737555TBCEL-TECTA,TECTAc.3824_3827delinsCCTT (p.Thr1275=)
c.1131_1134delinsCCTT
n.389_392delinsCCTT
c.4781_4784delinsCCTT (p.Thr1594=)
11g.121145836C>ACA477382885TBCEL-TECTA,TECTAc.3825C>A (p.Thr1275=)
c.1132C>A
n.390C>A
c.4782C>A (p.Thr1594=)
 dbSNP gnomAD v3 gnomAD v4
11g.121145836C=CA2004737557TBCEL-TECTA,TECTAc.3825C= (p.Thr1275=)
c.1132C=
n.390C=
c.4782C= (p.Thr1594=)
11g.121145836C>GCA477382886TBCEL-TECTA,TECTAc.3825C>G (p.Thr1275=)
c.1132C>G
n.390C>G
c.4782C>G (p.Thr1594=)
11g.121145836C>TCA6327294TBCEL-TECTA,TECTAc.3825C>T (p.Thr1275=)
c.1132C>T
n.390C>T
c.4782C>T (p.Thr1594=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145838_121145840delCA2004737556TBCEL-TECTA,TECTAc.3827_3829del (p.Phe1276del)
c.1134_1136del
n.392_394del
c.4784_4786del (p.Phe1595del)
 dbSNP
11g.121145837T>ACA383022587TBCEL-TECTA,TECTAc.3826T>A (p.Phe1276Ile)
c.1133T>A
n.391T>A
c.4783T>A (p.Phe1595Ile)
11g.121145837T>CCA383022588TBCEL-TECTA,TECTAc.3826T>C (p.Phe1276Leu)
c.1133T>C
n.391T>C
c.4783T>C (p.Phe1595Leu)
11g.121145837T>GCA383022589TBCEL-TECTA,TECTAc.3826T>G (p.Phe1276Val)
c.1133T>G
n.391T>G
c.4783T>G (p.Phe1595Val)
11g.121145838T>ACA383022590TBCEL-TECTA,TECTAc.3827T>A (p.Phe1276Tyr)
c.1134T>A
n.392T>A
c.4784T>A (p.Phe1595Tyr)
11g.121145838T>CCA383022591TBCEL-TECTA,TECTAc.3827T>C (p.Phe1276Ser)
c.1134T>C
n.392T>C
c.4784T>C (p.Phe1595Ser)
11g.121145838T>GCA383022592TBCEL-TECTA,TECTAc.3827T>G (p.Phe1276Cys)
c.1134T>G
n.392T>G
c.4784T>G (p.Phe1595Cys)
 ClinVar dbSNP
11g.121145839C>ACA383022593TBCEL-TECTA,TECTAc.3828C>A (p.Phe1276Leu)
c.1135C>A
n.393C>A
c.4785C>A (p.Phe1595Leu)
11g.121145839C=CA2004737558TBCEL-TECTA,TECTAc.3828C= (p.Phe1276=)
c.1135C=
n.393C=
c.4785C= (p.Phe1595=)
11g.121145839C>GCA383022594TBCEL-TECTA,TECTAc.3828C>G (p.Phe1276Leu)
c.1135C>G
n.393C>G
c.4785C>G (p.Phe1595Leu)
11g.121145839C>TCA6327295TBCEL-TECTA,TECTAc.3828C>T (p.Phe1276=)
c.1135C>T
n.393C>T
c.4785C>T (p.Phe1595=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145840T>ACA383022595TBCEL-TECTA,TECTAc.3829T>A (p.Cys1277Ser)
c.1136T>A
n.394T>A
c.4786T>A (p.Cys1596Ser)
11g.121145840T>CCA383022596TBCEL-TECTA,TECTAc.3829T>C (p.Cys1277Arg)
c.1136T>C
n.394T>C
c.4786T>C (p.Cys1596Arg)
11g.121145840T>GCA383022597TBCEL-TECTA,TECTAc.3829T>G (p.Cys1277Gly)
c.1136T>G
n.394T>G
c.4786T>G (p.Cys1596Gly)
11g.121145841G>ACA383022600TBCEL-TECTA,TECTAc.3830G>A (p.Cys1277Tyr)
c.1137G>A
n.395G>A
c.4787G>A (p.Cys1596Tyr)
11g.121145841G>CCA383022599TBCEL-TECTA,TECTAc.3830G>C (p.Cys1277Ser)
c.1137G>C
n.395G>C
c.4787G>C (p.Cys1596Ser)
11g.121145841G=CA2004737559TBCEL-TECTA,TECTAc.3830G= (p.Cys1277=)
c.1137G=
n.395G=
c.4787G= (p.Cys1596=)
11g.121145841G>TCA383022598TBCEL-TECTA,TECTAc.3830G>T (p.Cys1277Phe)
c.1137G>T
n.395G>T
c.4787G>T (p.Cys1596Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.121145842C>ACA383022601TBCEL-TECTA,TECTAc.3831C>A (p.Cys1277Ter)
c.1138C>A
n.396C>A
c.4788C>A (p.Cys1596Ter)
11g.121145842C>GCA383022602TBCEL-TECTA,TECTAc.3831C>G (p.Cys1277Trp)
c.1138C>G
n.396C>G
c.4788C>G (p.Cys1596Trp)
11g.121145842C>TCA477382889TBCEL-TECTA,TECTAc.3831C>T (p.Cys1277=)
c.1138C>T
n.396C>T
c.4788C>T (p.Cys1596=)
11g.121145843C>ACA383022603TBCEL-TECTA,TECTAc.3832C>A (p.Gln1278Lys)
c.1139C>A
n.397C>A
c.4789C>A (p.Gln1597Lys)
 gnomAD v4
11g.121145843C>GCA383022604TBCEL-TECTA,TECTAc.3832C>G (p.Gln1278Glu)
c.1139C>G
n.397C>G
c.4789C>G (p.Gln1597Glu)
11g.121145843C>TCA383022605TBCEL-TECTA,TECTAc.3832C>T (p.Gln1278Ter)
c.1139C>T
n.397C>T
c.4789C>T (p.Gln1597Ter)
11g.121145844A>CCA383022606TBCEL-TECTA,TECTAc.3833A>C (p.Gln1278Pro)
c.1140A>C
n.398A>C
c.4790A>C (p.Gln1597Pro)
11g.121145844A>GCA383022607TBCEL-TECTA,TECTAc.3833A>G (p.Gln1278Arg)
c.1140A>G
n.398A>G
c.4790A>G (p.Gln1597Arg)
11g.121145844A>TCA383022608TBCEL-TECTA,TECTAc.3833A>T (p.Gln1278Leu)
c.1140A>T
n.398A>T
c.4790A>T (p.Gln1597Leu)
11g.121145845G>ACA477382891TBCEL-TECTA,TECTAc.3834G>A (p.Gln1278=)
c.1141G>A
n.399G>A
c.4791G>A (p.Gln1597=)
11g.121145845G>CCA383022609TBCEL-TECTA,TECTAc.3834G>C (p.Gln1278His)
c.1141G>C
n.399G>C
c.4791G>C (p.Gln1597His)
11g.121145845G>TCA383022610TBCEL-TECTA,TECTAc.3834G>T (p.Gln1278His)
c.1141G>T
n.399G>T
c.4791G>T (p.Gln1597His)
11g.121145846G>ACA383022611TBCEL-TECTA,TECTAc.3835G>A (p.Val1279Met)
c.1142G>A
n.400G>A
c.4792G>A (p.Val1598Met)
 dbSNP
11g.121145846G>CCA383022612TBCEL-TECTA,TECTAc.3835G>C (p.Val1279Leu)
c.1142G>C
n.400G>C
c.4792G>C (p.Val1598Leu)
11g.121145846G=CA2004737560TBCEL-TECTA,TECTAc.3835G= (p.Val1279=)
c.1142G=
n.400G=
c.4792G= (p.Val1598=)
11g.121145846G>TCA383022613TBCEL-TECTA,TECTAc.3835G>T (p.Val1279Leu)
c.1142G>T
n.400G>T
c.4792G>T (p.Val1598Leu)
11g.121145847T>ACA383022615TBCEL-TECTA,TECTAc.3836T>A (p.Val1279Glu)
c.1143T>A
n.401T>A
c.4793T>A (p.Val1598Glu)
11g.121145847T>CCA383022616TBCEL-TECTA,TECTAc.3836T>C (p.Val1279Ala)
c.1143T>C
n.401T>C
c.4793T>C (p.Val1598Ala)
11g.121145847T>GCA383022614TBCEL-TECTA,TECTAc.3836T>G (p.Val1279Gly)
c.1143T>G
n.401T>G
c.4793T>G (p.Val1598Gly)
 gnomAD v4
11g.121145848G>ACA6327296TBCEL-TECTA,TECTAc.3837G>A (p.Val1279=)
c.1144G>A
n.402G>A
c.4794G>A (p.Val1598=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145848G>CCA477382896TBCEL-TECTA,TECTAc.3837G>C (p.Val1279=)
c.1144G>C
n.402G>C
c.4794G>C (p.Val1598=)
11g.121145848G=CA2004737561TBCEL-TECTA,TECTAc.3837G= (p.Val1279=)
c.1144G=
n.402G=
c.4794G= (p.Val1598=)
11g.121145848G>TCA477382893TBCEL-TECTA,TECTAc.3837G>T (p.Val1279=)
c.1144G>T
n.402G>T
c.4794G>T (p.Val1598=)
11g.121145849G>ACA6327297TBCEL-TECTA,TECTAc.3838G>A (p.Gly1280Ser)
c.1145G>A
n.403G>A
c.4795G>A (p.Gly1599Ser)
 dbSNP ExAC gnomAD v2
11g.121145849G>CCA383022617TBCEL-TECTA,TECTAc.3838G>C (p.Gly1280Arg)
c.1145G>C
n.403G>C
c.4795G>C (p.Gly1599Arg)
11g.121145849G=CA2004737562TBCEL-TECTA,TECTAc.3838G= (p.Gly1280=)
c.1145G=
n.403G=
c.4795G= (p.Gly1599=)
11g.121145849G>TCA383022618TBCEL-TECTA,TECTAc.3838G>T (p.Gly1280Cys)
c.1145G>T
n.403G>T
c.4795G>T (p.Gly1599Cys)

Number of alleles fetched