Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.73322872_73322881dupCA2629370532HCN4c.3220_3229dup (p.Gly1077AlafsTer?)
c.2002_2011dup (p.Gly671AlafsTer?)
gnomAD v4
15g.73322872_73322881delCA2629370533HCN4c.3220_3229del (p.Leu1074AlafsTer?)
c.2002_2011del (p.Leu668AlafsTer?)
gnomAD v4
15g.73322869delCA619410582HCN4c.3228del (p.Gly1077AlafsTer?)
c.2010del (p.Gly671AlafsTer?)
gnomAD v2 gnomAD v4
15g.73322867G>ACA393085982HCN4c.3226C>T (p.Pro1076Ser)
c.2008C>T (p.Pro670Ser)
gnomAD v4
15g.73322867G>CCA393085981HCN4c.3226C>G (p.Pro1076Ala)
c.2008C>G (p.Pro670Ala)
15g.73322867G=CA2187186828HCN4c.3226C= (p.Pro1076=)
c.2008C= (p.Pro670=)
15g.73322867G>TCA393085980HCN4c.3226C>A (p.Pro1076Thr)
c.2008C>A (p.Pro670Thr)
dbSNP gnomAD v2 gnomAD v4
15g.73322868G>ACA491477869HCN4c.3225C>T (p.Thr1075=)
c.2007C>T (p.Thr669=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73322868G>CCA491477870HCN4c.3225C>G (p.Thr1075=)
c.2007C>G (p.Thr669=)
15g.73322868G=CA2187186831HCN4c.3225C= (p.Thr1075=)
c.2007C= (p.Thr669=)
15g.73322868G>TCA491477871HCN4c.3225C>A (p.Thr1075=)
c.2007C>A (p.Thr669=)
gnomAD v4
15g.73322869_73322871delCA2740096730HCN4c.3223_3225del (p.Thr1075del)
c.2005_2007del (p.Thr669del)
ClinVar
15g.73322869G>ACA272663542HCN4c.3224C>T (p.Thr1075Ile)
c.2006C>T (p.Thr669Ile)
dbSNP gnomAD v4
15g.73322869G>CCA393085983HCN4c.3224C>G (p.Thr1075Ser)
c.2006C>G (p.Thr669Ser)
gnomAD v4
15g.73322869G=CA2187186835HCN4c.3224C= (p.Thr1075=)
c.2006C= (p.Thr669=)
15g.73322869G>TCA393085984HCN4c.3224C>A (p.Thr1075Asn)
c.2006C>A (p.Thr669Asn)
gnomAD v4
15g.73322870T>ACA393085985HCN4c.3223A>T (p.Thr1075Ser)
c.2005A>T (p.Thr669Ser)
15g.73322870T>CCA7648863HCN4c.3223A>G (p.Thr1075Ala)
c.2005A>G (p.Thr669Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.73322870T>GCA272663548HCN4c.3223A>C (p.Thr1075Pro)
c.2005A>C (p.Thr669Pro)
dbSNP
15g.73322870T=CA2187186843HCN4c.3223A= (p.Thr1075=)
c.2005A= (p.Thr669=)
15g.73322870_73322897delinsTGAGCGGGGGTGTGCCCCGGCGCTGGGGCA2187186841HCN4c.3196_3223delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro1066=)
c.1978_2005delinsCCCCAGCGCCGGGGCACACCCCCGCTCA (p.Pro660=)
15g.73322871G>ACA491477877HCN4c.3222C>T (p.Leu1074=)
c.2004C>T (p.Leu668=)
gnomAD v4
15g.73322871G>CCA491477876HCN4c.3222C>G (p.Leu1074=)
c.2004C>G (p.Leu668=)
gnomAD v4
15g.73322871G>TCA491477875HCN4c.3222C>A (p.Leu1074=)
c.2004C>A (p.Leu668=)
gnomAD v4
15g.73322873_73322899delCA2187186847HCN4c.3196_3222del (p.Pro1066_Leu1074del)
c.1978_2004del (p.Pro660_Leu668del)
dbSNP
15g.73322872A>CCA393085986HCN4c.3221T>G (p.Leu1074Arg)
c.2003T>G (p.Leu668Arg)
15g.73322872A>GCA393085988HCN4c.3221T>C (p.Leu1074Pro)
c.2003T>C (p.Leu668Pro)
gnomAD v4
15g.73322872A>TCA393085987HCN4c.3221T>A (p.Leu1074His)
c.2003T>A (p.Leu668His)
15g.73322873G>ACA7648864HCN4c.3220C>T (p.Leu1074Phe)
c.2002C>T (p.Leu668Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73322873G>CCA393085990HCN4c.3220C>G (p.Leu1074Val)
c.2002C>G (p.Leu668Val)
15g.73322873G=CA2187186850HCN4c.3220C= (p.Leu1074=)
c.2002C= (p.Leu668=)
15g.73322873G>TCA393085989HCN4c.3220C>A (p.Leu1074Ile)
c.2002C>A (p.Leu668Ile)
gnomAD v4
15g.73322874C>ACA491477893HCN4c.3219G>T (p.Pro1073=)
c.2001G>T (p.Pro667=)
gnomAD v4
15g.73322874C=CA2187186855HCN4c.3219G= (p.Pro1073=)
c.2001G= (p.Pro667=)
15g.73322874C>GCA491477895HCN4c.3219G>C (p.Pro1073=)
c.2001G>C (p.Pro667=)
15g.73322874C>TCA491477896HCN4c.3219G>A (p.Pro1073=)
c.2001G>A (p.Pro667=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.73322875G>ACA7648865HCN4c.3218C>T (p.Pro1073Leu)
c.2000C>T (p.Pro667Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73322875G>CCA272663565HCN4c.3218C>G (p.Pro1073Arg)
c.2000C>G (p.Pro667Arg)
ClinVar dbSNP gnomAD v4
15g.73322875G=CA2187186860HCN4c.3218C= (p.Pro1073=)
c.2000C= (p.Pro667=)
15g.73322875G>TCA393085991HCN4c.3218C>A (p.Pro1073Gln)
c.2000C>A (p.Pro667Gln)
gnomAD v4
15g.73322879delCA2575783817HCN4c.3218del (p.Pro1073ArgfsTer?)
c.2000del (p.Pro667ArgfsTer?)
gnomAD v4
15g.73322875_73322902delinsGGGGGTGTGCCCCGGCGCTGGGGGACCTCA2187186862HCN4c.3191_3218delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln1064=)
c.1973_2000delinsAGGTCCCCCAGCGCCGGGGCACACCCCC (p.Gln658=)
15g.73322876G>ACA393085992HCN4c.3217C>T (p.Pro1073Ser)
c.1999C>T (p.Pro667Ser)
gnomAD v4
15g.73322876G>CCA393085993HCN4c.3217C>G (p.Pro1073Ala)
c.1999C>G (p.Pro667Ala)
15g.73322876G>TCA393085994HCN4c.3217C>A (p.Pro1073Thr)
c.1999C>A (p.Pro667Thr)
gnomAD v4
15g.73322882_73322908delCA7648866HCN4c.3191_3217del (p.Gln1064_Pro1072del)
c.1973_1999del (p.Gln658_Pro666del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73322877G>ACA491477897HCN4c.3216C>T (p.Pro1072=)
c.1998C>T (p.Pro666=)
gnomAD v4
15g.73322877G>CCA491477898HCN4c.3216C>G (p.Pro1072=)
c.1998C>G (p.Pro666=)
15g.73322877G>TCA491477899HCN4c.3216C>A (p.Pro1072=)
c.1998C>A (p.Pro666=)
gnomAD v4
15g.73322878G>ACA393085995HCN4c.3215C>T (p.Pro1072Leu)
c.1997C>T (p.Pro666Leu)

Number of alleles fetched