Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.15999805_15999834delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAGCA2249814909TTC19c.-44_-15delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG (n.-44_-15delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG)
c.22_51delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG
c.4_33delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG
c.-502_-473delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG (n.-502_-473delinsAGGAGCGCGTCTGGCCTGCAGTGCGCAGAG)
17g.15999807_15999835delCA919799541TTC19c.-42_-14del (n.-42_-14del)
c.24_52del
c.6_34del
c.-500_-472del (n.-500_-472del)
dbSNP
17g.15999819_15999852delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGTCA2249814921TTC19c.-30_4delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGT
c.36_69delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGT
c.18_51delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGT
c.-488_-455delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGT (n.-488_-455delinsCCTGCAGTGCGCAGAGGACGCGGCGGGAGCATGT)
17g.15999820_15999852delCA919799544TTC19c.-29_4del
c.37_69del
c.19_51del
c.-487_-455del (n.-487_-455del)
dbSNP
17g.15999823C>ACA2636259652TTC19c.-26C>A (n.-26C>A)
c.40C>A
c.22C>A
c.-484C>A (n.-484C>A)
dbSNP gnomAD v4
17g.15999823C=CA2249814924TTC19c.-26C= (n.-26C=)
c.40C=
c.22C=
c.-484C= (n.-484C=)
17g.15999823C>GCA2636259653TTC19c.-26C>G (n.-26C>G)
c.40C>G
c.22C>G
c.-484C>G (n.-484C>G)
gnomAD v4
17g.15999823C>TCA624961160TTC19c.-26C>T (n.-26C>T)
c.40C>T
c.22C>T
c.-484C>T (n.-484C>T)
dbSNP gnomAD v2 gnomAD v4
17g.15999824A=CA2249814925TTC19c.-25A= (n.-25A=)
c.41A=
c.23A=
n.1A=
c.-483A= (n.-483A=)
17g.15999824A>CCA2576180953TTC19c.-25A>C (n.-25A>C)
c.41A>C
c.23A>C
n.1A>C
c.-483A>C (n.-483A>C)
17g.15999824A>GCA624961161TTC19c.-25A>G (n.-25A>G)
c.41A>G
c.23A>G
n.1A>G
c.-483A>G (n.-483A>G)
dbSNP gnomAD v2 gnomAD v4
17g.15999824A>TCA2636259654TTC19c.-25A>T (n.-25A>T)
c.41A>T
c.23A>T
n.1A>T
c.-483A>T (n.-483A>T)
gnomAD v4
17g.15999825G>ACA2636259655TTC19c.-24G>A (n.-24G>A)
c.42G>A
c.24G>A
n.2G>A
c.-482G>A (n.-482G>A)
gnomAD v4
17g.15999825G>CCA2576180954TTC19c.-24G>C (n.-24G>C)
c.42G>C
c.24G>C
n.2G>C
c.-482G>C (n.-482G>C)
gnomAD v4
17g.15999825G>TCA2636259656TTC19c.-24G>T (n.-24G>T)
c.42G>T
c.24G>T
n.2G>T
c.-482G>T (n.-482G>T)
gnomAD v4
17g.15999826T>ACA2576180955TTC19c.-23T>A (n.-23T>A)
c.43T>A
c.25T>A
n.3T>A
c.-481T>A (n.-481T>A)
gnomAD v4
17g.15999826T>CCA2636259657TTC19c.-23T>C (n.-23T>C)
c.43T>C
c.25T>C
n.3T>C
c.-481T>C (n.-481T>C)
gnomAD v4
17g.15999826T>GCA624961162TTC19c.-23T>G (n.-23T>G)
c.43T>G
c.25T>G
n.3T>G
c.-481T>G (n.-481T>G)
dbSNP gnomAD v2 gnomAD v4
17g.15999826T=CA2249814926TTC19c.-23T= (n.-23T=)
c.43T=
c.25T=
n.3T=
c.-481T= (n.-481T=)
17g.15999827G>ACA2636259658TTC19c.-22G>A (n.-22G>A)
c.44G>A
c.26G>A
n.4G>A
c.-480G>A (n.-480G>A)
dbSNP gnomAD v4
17g.15999827G=CA2249814927TTC19c.-22G= (n.-22G=)
c.44G=
c.26G=
n.4G=
c.-480G= (n.-480G=)
17g.15999827G>TCA624961163TTC19c.-22G>T (n.-22G>T)
c.44G>T
c.26G>T
n.4G>T
c.-480G>T (n.-480G>T)
dbSNP gnomAD v2 gnomAD v4
17g.15999828C>ACA912998561TTC19c.-21C>A (n.-21C>A)
c.45C>A
c.27C>A
n.5C>A
c.-479C>A (n.-479C>A)
gnomAD v4
17g.15999828C=CA2249814928TTC19c.-21C= (n.-21C=)
c.45C=
c.27C=
n.5C=
c.-479C= (n.-479C=)
17g.15999828C>GCA624961165TTC19c.-21C>G (n.-21C>G)
c.45C>G
c.27C>G
n.5C>G
c.-479C>G (n.-479C>G)
dbSNP gnomAD v2 gnomAD v4
17g.15999828C>TCA624961164TTC19c.-21C>T (n.-21C>T)
c.45C>T
c.27C>T
n.5C>T
c.-479C>T (n.-479C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.15999829G>ACA2576180956TTC19c.-20G>A (n.-20G>A)
c.46G>A
c.28G>A
n.6G>A
c.-478G>A (n.-478G>A)
gnomAD v4
17g.15999829G>CCA2739521163TTC19c.-20G>C (n.-20G>C)
c.46G>C
c.28G>C
n.6G>C
c.-478G>C (n.-478G>C)
17g.15999829G>TCA2636259659TTC19c.-20G>T (n.-20G>T)
c.46G>T
c.28G>T
n.6G>T
c.-478G>T (n.-478G>T)
gnomAD v4
17g.15999830C>ACA2576180957TTC19c.-19C>A (n.-19C>A)
c.47C>A
c.29C>A
n.7C>A
c.-477C>A (n.-477C>A)
gnomAD v4
17g.15999830C=CA2249814929TTC19c.-19C= (n.-19C=)
c.47C=
c.29C=
n.7C=
c.-477C= (n.-477C=)
17g.15999830C>GCA2636259660TTC19c.-19C>G (n.-19C>G)
c.47C>G
c.29C>G
n.7C>G
c.-477C>G (n.-477C>G)
gnomAD v4
17g.15999830C>TCA624961167TTC19c.-19C>T (n.-19C>T)
c.47C>T
c.29C>T
n.7C>T
c.-477C>T (n.-477C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999831A=CA2249814930TTC19c.-18A= (n.-18A=)
c.48A=
c.30A=
n.8A=
c.-476A= (n.-476A=)
17g.15999831A>GCA8407226TTC19c.-18A>G (n.-18A>G)
c.48A>G
c.30A>G
n.8A>G
c.-476A>G (n.-476A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.15999831A>TCA2636259661TTC19c.-18A>T (n.-18A>T)
c.48A>T
c.30A>T
n.8A>T
c.-476A>T (n.-476A>T)
gnomAD v4
17g.15999832G>ACA2636259662TTC19c.-17G>A (n.-17G>A)
c.49G>A
c.31G>A
n.9G>A
c.-475G>A (n.-475G>A)
gnomAD v4
17g.15999832G>CCA2739521164TTC19c.-17G>C (n.-17G>C)
c.49G>C
c.31G>C
n.9G>C
c.-475G>C (n.-475G>C)
17g.15999832G>TCA2636259663TTC19c.-17G>T (n.-17G>T)
c.49G>T
c.31G>T
n.9G>T
c.-475G>T (n.-475G>T)
gnomAD v4
17g.15999833A=CA2249814931TTC19c.-16A= (n.-16A=)
c.50A=
c.32A=
n.10A=
c.-474A= (n.-474A=)
17g.15999833A>CCA726478702TTC19c.-16A>C (n.-16A>C)
c.50A>C
c.32A>C
n.10A>C
c.-474A>C (n.-474A>C)
dbSNP
17g.15999833A>GCA624961168TTC19c.-16A>G (n.-16A>G)
c.50A>G
c.32A>G
n.10A>G
c.-474A>G (n.-474A>G)
dbSNP gnomAD v2 gnomAD v4
17g.15999833A>TCA2636259664TTC19c.-16A>T (n.-16A>T)
c.50A>T
c.32A>T
n.10A>T
c.-474A>T (n.-474A>T)
gnomAD v4
17g.15999834G>ACA302703TTC19c.-15G>A (n.-15G>A)
c.51G>A
c.1G>A (p.Gly1Arg)
c.33G>A
n.11G>A
c.-473G>A (n.-473G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999834G>CCA2739521165TTC19c.-15G>C (n.-15G>C)
c.51G>C
c.1G>C (p.Gly1Arg)
c.33G>C
n.11G>C
c.-473G>C (n.-473G>C)
17g.15999834G=CA2249814932TTC19c.-15G= (n.-15G=)
c.51G=
c.1G= (p.Gly1=)
c.33G=
n.11G=
c.-473G= (n.-473G=)
17g.15999834G>TCA2636259665TTC19c.-15G>T (n.-15G>T)
c.51G>T
c.1G>T (p.Gly1Ter)
c.33G>T
n.11G>T
c.-473G>T (n.-473G>T)
gnomAD v4
17g.15999835G>ACA2636259666TTC19c.-14G>A (n.-14G>A)
c.52G>A
c.2G>A (p.Gly1Glu)
c.34G>A
n.12G>A
c.-472G>A (n.-472G>A)
gnomAD v4
17g.15999835G>CCA2739521166TTC19c.-14G>C (n.-14G>C)
c.52G>C
c.2G>C (p.Gly1Ala)
c.34G>C
n.12G>C
c.-472G>C (n.-472G>C)
17g.15999835G>TCA2576180958TTC19c.-14G>T (n.-14G>T)
c.52G>T
c.2G>T (p.Gly1Val)
c.34G>T
n.12G>T
c.-472G>T (n.-472G>T)
gnomAD v4
17g.15999836A=CA2249814933TTC19c.-13A= (n.-13A=)
c.53A=
c.3A= (p.Gly1=)
c.35A=
n.13A=
c.-471A= (n.-471A=)
17g.15999836A>GCA288187820TTC19c.-13A>G (n.-13A>G)
c.53A>G
c.3A>G (p.Gly1=)
c.35A>G
n.13A>G
c.-471A>G (n.-471A>G)
dbSNP gnomAD v4
17g.15999837C>ACA2636259667TTC19c.-12C>A (n.-12C>A)
c.54C>A
c.4C>A (p.Arg2Ser)
c.36C>A
n.14C>A
c.-470C>A (n.-470C>A)
gnomAD v4
17g.15999837C=CA2249814934TTC19c.-12C= (n.-12C=)
c.54C=
c.4C= (p.Arg2=)
c.36C=
n.14C=
c.-470C= (n.-470C=)
17g.15999837C>GCA2249814935TTC19c.-12C>G (n.-12C>G)
c.54C>G
c.4C>G (p.Arg2Gly)
c.36C>G
n.14C>G
c.-470C>G (n.-470C>G)
dbSNP gnomAD v4
17g.15999837C>TCA8407227TTC19c.-12C>T (n.-12C>T)
c.54C>T
c.4C>T (p.Arg2Cys)
c.36C>T
n.14C>T
c.-470C>T (n.-470C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999838G>ACA2636259668TTC19c.-11G>A (n.-11G>A)
c.55G>A
c.5G>A (p.Arg2His)
c.37G>A
n.15G>A
c.-469G>A (n.-469G>A)
gnomAD v4
17g.15999838G>CCA2739521167TTC19c.-11G>C (n.-11G>C)
c.55G>C
c.5G>C (p.Arg2Pro)
c.37G>C
n.15G>C
c.-469G>C (n.-469G>C)
17g.15999838G>TCA2636259669TTC19c.-11G>T (n.-11G>T)
c.55G>T
c.5G>T (p.Arg2Leu)
c.37G>T
n.15G>T
c.-469G>T (n.-469G>T)
gnomAD v4
17g.15999839C>ACA2636259670TTC19c.-10C>A (n.-10C>A)
c.56C>A
c.6C>A (p.Arg2=)
c.38C>A
n.16C>A
c.-468C>A (n.-468C>A)
gnomAD v4
17g.15999839C=CA2249814936TTC19c.-10C= (n.-10C=)
c.56C=
c.6C= (p.Arg2=)
c.38C=
n.16C=
c.-468C= (n.-468C=)
17g.15999839C>TCA8407228TTC19c.-10C>T (n.-10C>T)
c.56C>T
c.6C>T (p.Arg2=)
c.38C>T
n.16C>T
c.-468C>T (n.-468C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999840G>ACA288187823TTC19c.-9G>A (n.-9G>A)
c.57G>A
c.7G>A (p.Gly3Ser)
c.39G>A
n.17G>A
c.-467G>A (n.-467G>A)
dbSNP gnomAD v3 gnomAD v4
17g.15999840G>CCA2576180959TTC19c.-9G>C (n.-9G>C)
c.57G>C
c.7G>C (p.Gly3Arg)
c.39G>C
n.17G>C
c.-467G>C (n.-467G>C)
gnomAD v4
17g.15999840G=CA2249814937TTC19c.-9G= (n.-9G=)
c.57G=
c.7G= (p.Gly3=)
c.39G=
n.17G=
c.-467G= (n.-467G=)
17g.15999840G>TCA2636259671TTC19c.-9G>T (n.-9G>T)
c.57G>T
c.7G>T (p.Gly3Cys)
c.39G>T
n.17G>T
c.-467G>T (n.-467G>T)
gnomAD v4
17g.15999841G>ACA2636259672TTC19c.-8G>A (n.-8G>A)
c.58G>A
c.8G>A (p.Gly3Asp)
c.40G>A
n.18G>A
c.-466G>A (n.-466G>A)
gnomAD v4
17g.15999841G>CCA2576180960TTC19c.-8G>C (n.-8G>C)
c.58G>C
c.8G>C (p.Gly3Ala)
c.40G>C
n.18G>C
c.-466G>C (n.-466G>C)
17g.15999841G>TCA2636259673TTC19c.-8G>T (n.-8G>T)
c.58G>T
c.8G>T (p.Gly3Val)
c.40G>T
n.18G>T
c.-466G>T (n.-466G>T)
gnomAD v4
17g.15999842C>ACA2636259674TTC19c.-7C>A (n.-7C>A)
c.59C>A
c.9C>A (p.Gly3=)
c.41C>A
n.19C>A
c.-465C>A (n.-465C>A)
gnomAD v4
17g.15999842C=CA2249814938TTC19c.-7C= (n.-7C=)
c.59C=
c.9C= (p.Gly3=)
c.41C=
n.19C=
c.-465C= (n.-465C=)
17g.15999842C>GCA2636259675TTC19c.-7C>G (n.-7C>G)
c.59C>G
c.9C>G (p.Gly3=)
c.41C>G
n.19C>G
c.-465C>G (n.-465C>G)
gnomAD v4
17g.15999842C>TCA8407229TTC19c.-7C>T (n.-7C>T)
c.59C>T
c.9C>T (p.Gly3=)
c.41C>T
n.19C>T
c.-465C>T (n.-465C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999843G>ACA2636259676TTC19c.-6G>A (n.-6G>A)
c.60G>A
c.10G>A (p.Gly4Arg)
c.42G>A
n.20G>A
c.-464G>A (n.-464G>A)
gnomAD v4
17g.15999843G>CCA2636259677TTC19c.-6G>C (n.-6G>C)
c.60G>C
c.10G>C (p.Gly4Arg)
c.42G>C
n.20G>C
c.-464G>C (n.-464G>C)
gnomAD v4
17g.15999843G>TCA2636259678TTC19c.-6G>T (n.-6G>T)
c.60G>T
c.10G>T (p.Gly4Trp)
c.42G>T
n.20G>T
c.-464G>T (n.-464G>T)
gnomAD v4
17g.15999844G>ACA8407230TTC19c.-5G>A (n.-5G>A)
c.61G>A
c.11G>A (p.Gly4Glu)
c.43G>A
n.21G>A
c.-463G>A (n.-463G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.15999844G>CCA2636259679TTC19c.-5G>C (n.-5G>C)
c.61G>C
c.11G>C (p.Gly4Ala)
c.43G>C
n.21G>C
c.-463G>C (n.-463G>C)
gnomAD v4
17g.15999844G=CA2249814939TTC19c.-5G= (n.-5G=)
c.61G=
c.11G= (p.Gly4=)
c.43G=
n.21G=
c.-463G= (n.-463G=)
17g.15999844G>TCA2636259680TTC19c.-5G>T (n.-5G>T)
c.61G>T
c.11G>T (p.Gly4Val)
c.43G>T
n.21G>T
c.-463G>T (n.-463G>T)
gnomAD v4
17g.15999845G>ACA625312118TTC19c.-4G>A (n.-4G>A)
c.62G>A
c.12G>A (p.Gly4=)
c.44G>A
n.22G>A
c.-462G>A (n.-462G>A)
dbSNP gnomAD v2 gnomAD v4
17g.15999845G>CCA2636259681TTC19c.-4G>C (n.-4G>C)
c.62G>C
c.12G>C (p.Gly4=)
c.44G>C
n.22G>C
c.-462G>C (n.-462G>C)
gnomAD v4
17g.15999845G=CA2249814940TTC19c.-4G= (n.-4G=)
c.62G=
c.12G= (p.Gly4=)
c.44G=
n.22G=
c.-462G= (n.-462G=)
17g.15999845G>TCA2636259682TTC19c.-4G>T (n.-4G>T)
c.62G>T
c.12G>T (p.Gly4=)
c.44G>T
n.22G>T
c.-462G>T (n.-462G>T)
gnomAD v4
17g.15999846A=CA2249814941TTC19c.-3A= (n.-3A=)
c.63A=
c.13A= (p.Ser5=)
c.45A=
n.23A=
c.-461A= (n.-461A=)
17g.15999846A>CCA726478703TTC19c.-3A>C (n.-3A>C)
c.63A>C
c.13A>C (p.Ser5Arg)
c.45A>C
n.23A>C
c.-461A>C (n.-461A>C)
dbSNP gnomAD v3 gnomAD v4
17g.15999846A>GCA2739521169TTC19c.-3A>G (n.-3A>G)
c.63A>G
c.13A>G (p.Ser5Gly)
c.45A>G
n.23A>G
c.-461A>G (n.-461A>G)
17g.15999846A>TCA2739521168TTC19c.-3A>T (n.-3A>T)
c.63A>T
c.13A>T (p.Ser5Cys)
c.45A>T
n.23A>T
c.-461A>T (n.-461A>T)
17g.15999847G>ACA2636259683TTC19c.-2G>A (n.-2G>A)
c.64G>A
c.14G>A (p.Ser5Asn)
c.46G>A
n.24G>A
c.-460G>A (n.-460G>A)
gnomAD v4
17g.15999847G>CCA625312119TTC19c.-2G>C (n.-2G>C)
c.64G>C
c.14G>C (p.Ser5Thr)
c.46G>C
n.24G>C
c.-460G>C (n.-460G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999847G=CA2249814942TTC19c.-2G= (n.-2G=)
c.64G=
c.14G= (p.Ser5=)
c.46G=
n.24G=
c.-460G= (n.-460G=)
17g.15999847G>TCA2249814943TTC19c.-2G>T (n.-2G>T)
c.64G>T
c.14G>T (p.Ser5Ile)
c.46G>T
n.24G>T
c.-460G>T (n.-460G>T)
dbSNP gnomAD v4
17g.15999848C>ACA2636259684TTC19c.-1C>A (n.-1C>A)
c.65C>A
c.15C>A (p.Ser5Arg)
c.47C>A
n.25C>A
c.-459C>A (n.-459C>A)
gnomAD v4
17g.15999848C=CA2249814944TTC19c.-1C= (n.-1C=)
c.65C=
c.15C= (p.Ser5=)
c.47C=
n.25C=
c.-459C= (n.-459C=)
17g.15999848C>GCA8407231TTC19c.-1C>G (n.-1C>G)
c.65C>G
c.15C>G (p.Ser5Arg)
c.47C>G
n.25C>G
c.-459C>G (n.-459C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999848C>TCA291431TTC19c.-1C>T (n.-1C>T)
c.65C>T
c.15C>T (p.Ser5=)
c.47C>T
n.25C>T
c.-459C>T (n.-459C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999849A=CA2249814945TTC19c.1A= (p.Met1=)
c.66A=
c.16A= (p.Met6=)
c.48A=
n.26A=
c.-458A= (n.-458A=)
17g.15999849A>CCA398381782TTC19c.1A>C (p.Met1Leu)
c.66A>C
c.16A>C (p.Met6Leu)
c.48A>C
n.26A>C
c.-458A>C (n.-458A>C)
17g.15999849A>GCA8407232TTC19c.1A>G (p.Met1Val)
c.66A>G
c.16A>G (p.Met6Val)
c.48A>G
n.26A>G
c.-458A>G (n.-458A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999849A>TCA398381787TTC19c.1A>T (p.Met1Leu)
c.66A>T
c.16A>T (p.Met6Leu)
c.48A>T
n.26A>T
c.-458A>T (n.-458A>T)
17g.15999850T>ACA398381790TTC19c.2T>A (p.Met1Lys)
c.67T>A
c.17T>A (p.Met6Lys)
c.49T>A
n.27T>A
c.-457T>A (n.-457T>A)
17g.15999850T>CCA398381795TTC19c.2T>C (p.Met1Thr)
c.67T>C
c.17T>C (p.Met6Thr)
c.49T>C
n.27T>C
c.-457T>C (n.-457T>C)
gnomAD v4
17g.15999850T>GCA398381798TTC19c.2T>G (p.Met1Arg)
c.67T>G
c.17T>G (p.Met6Arg)
c.49T>G
n.27T>G
c.-457T>G (n.-457T>G)
17g.15999851G>ACA398381810TTC19c.3G>A (p.Met1Ile)
c.68G>A
c.18G>A (p.Met6Ile)
c.50G>A
n.28G>A
c.-456G>A (n.-456G>A)
gnomAD v4
17g.15999851G>CCA398381801TTC19c.3G>C (p.Met1Ile)
c.68G>C
c.18G>C (p.Met6Ile)
c.50G>C
n.28G>C
c.-456G>C (n.-456G>C)
gnomAD v4
17g.15999851G=CA2249814946TTC19c.3G= (p.Met1=)
c.68G=
c.18G= (p.Met6=)
c.50G=
n.28G=
c.-456G= (n.-456G=)
17g.15999851G>TCA398381805TTC19c.3G>T (p.Met1Ile)
c.68G>T
c.18G>T (p.Met6Ile)
c.50G>T
n.28G>T
c.-456G>T (n.-456G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999852T>ACA398381811TTC19c.4T>A (p.Phe2Ile)
c.69T>A
c.19T>A (p.Phe7Ile)
c.51T>A
n.29T>A
c.-455T>A (n.-455T>A)
17g.15999852T>CCA398381812TTC19c.4T>C (p.Phe2Leu)
c.69T>C
c.19T>C (p.Phe7Leu)
c.51T>C
n.29T>C
c.-455T>C (n.-455T>C)
gnomAD v4
17g.15999852T>GCA398381813TTC19c.4T>G (p.Phe2Val)
c.69T>G
c.19T>G (p.Phe7Val)
c.51T>G
n.29T>G
c.-455T>G (n.-455T>G)
ClinVar gnomAD v4
17g.15999853T>ACA398381815TTC19c.5T>A (p.Phe2Tyr)
c.70T>A
c.20T>A (p.Phe7Tyr)
c.52T>A
n.30T>A
c.-454T>A (n.-454T>A)
dbSNP gnomAD v4
17g.15999853T>CCA398381818TTC19c.5T>C (p.Phe2Ser)
c.70T>C
c.20T>C (p.Phe7Ser)
c.52T>C
n.30T>C
c.-454T>C (n.-454T>C)
gnomAD v4
17g.15999853T>GCA398381821TTC19c.5T>G (p.Phe2Cys)
c.70T>G
c.20T>G (p.Phe7Cys)
c.52T>G
n.30T>G
c.-454T>G (n.-454T>G)
dbSNP gnomAD v3 gnomAD v4
17g.15999853T=CA2249814947TTC19c.5T= (p.Phe2=)
c.70T=
c.20T= (p.Phe7=)
c.52T=
n.30T=
c.-454T= (n.-454T=)
17g.15999853_15999877delinsTCCGGCTCCTGAGCTGGAGCCTGGGCA2249814948TTC19c.5_29delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe2=)
c.70_94delinsTCCGGCTCCTGAGCTGGAGCCTGGG
c.20_44delinsTCCGGCTCCTGAGCTGGAGCCTGGG (p.Phe7=)
c.52_76delinsTCCGGCTCCTGAGCTGGAGCCTGGG
n.30_54delinsTCCGGCTCCTGAGCTGGAGCCTGGG
c.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG (n.-454_-430delinsTCCGGCTCCTGAGCTGGAGCCTGGG)
17g.15999854C>ACA398381823TTC19c.6C>A (p.Phe2Leu)
c.71C>A
c.21C>A (p.Phe7Leu)
c.53C>A
n.31C>A
c.-453C>A (n.-453C>A)
gnomAD v4
17g.15999854C=CA2249814949TTC19c.6C= (p.Phe2=)
c.71C=
c.21C= (p.Phe7=)
c.53C=
n.31C=
c.-453C= (n.-453C=)
17g.15999854C>GCA288187829TTC19c.6C>G (p.Phe2Leu)
c.71C>G
c.21C>G (p.Phe7Leu)
c.53C>G
n.31C>G
c.-453C>G (n.-453C>G)
dbSNP gnomAD v3 gnomAD v4
17g.15999854C>TCA498414277TTC19c.6C>T (p.Phe2=)
c.71C>T
c.21C>T (p.Phe7=)
c.53C>T
n.31C>T
c.-453C>T (n.-453C>T)
gnomAD v4
17g.15999857_15999880delCA8407233TTC19c.9_32del (p.Leu4_Arg11del)
c.74_97del
c.24_47del (p.Leu9_Arg16del)
c.56_79del
n.34_57del
c.-450_-427del (n.-450_-427del)
dbSNP ExAC gnomAD v4
17g.15999855C>ACA498414278TTC19c.7C>A (p.Arg3=)
c.72C>A
c.22C>A (p.Arg8=)
c.54C>A
n.32C>A
c.-452C>A (n.-452C>A)
gnomAD v4
17g.15999855C=CA2249814950TTC19c.7C= (p.Arg3=)
c.72C=
c.22C= (p.Arg8=)
c.54C=
n.32C=
c.-452C= (n.-452C=)
17g.15999855C>GCA398381828TTC19c.7C>G (p.Arg3Gly)
c.72C>G
c.22C>G (p.Arg8Gly)
c.54C>G
n.32C>G
c.-452C>G (n.-452C>G)
dbSNP gnomAD v4
17g.15999855C>TCA322238TTC19c.7C>T (p.Arg3Trp)
c.72C>T
c.22C>T (p.Arg8Trp)
c.54C>T
n.32C>T
c.-452C>T (n.-452C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999856G>ACA398381840TTC19c.8G>A (p.Arg3Gln)
c.73G>A
c.23G>A (p.Arg8Gln)
c.55G>A
n.33G>A
c.-451G>A (n.-451G>A)
dbSNP gnomAD v4
17g.15999856G>CCA398381837TTC19c.8G>C (p.Arg3Pro)
c.73G>C
c.23G>C (p.Arg8Pro)
c.55G>C
n.33G>C
c.-451G>C (n.-451G>C)
gnomAD v4
17g.15999856G=CA2249814951TTC19c.8G= (p.Arg3=)
c.73G=
c.23G= (p.Arg8=)
c.55G=
n.33G=
c.-451G= (n.-451G=)
17g.15999856G>TCA398381834TTC19c.8G>T (p.Arg3Leu)
c.73G>T
c.23G>T (p.Arg8Leu)
c.55G>T
n.33G>T
c.-451G>T (n.-451G>T)
gnomAD v4
17g.15999857G>ACA498414279TTC19c.9G>A (p.Arg3=)
c.74G>A
c.24G>A (p.Arg8=)
c.56G>A
n.34G>A
c.-450G>A (n.-450G>A)
dbSNP gnomAD v3 gnomAD v4
17g.15999857G>CCA498414280TTC19c.9G>C (p.Arg3=)
c.74G>C
c.24G>C (p.Arg8=)
c.56G>C
n.34G>C
c.-450G>C (n.-450G>C)
17g.15999857G=CA2249814952TTC19c.9G= (p.Arg3=)
c.74G=
c.24G= (p.Arg8=)
c.56G=
n.34G=
c.-450G= (n.-450G=)
17g.15999857G>TCA498414281TTC19c.9G>T (p.Arg3=)
c.74G>T
c.24G>T (p.Arg8=)
c.56G>T
n.34G>T
c.-450G>T (n.-450G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.15999858C>ACA398381844TTC19c.10C>A (p.Leu4Ile)
c.75C>A
c.25C>A (p.Leu9Ile)
c.57C>A
n.35C>A
c.-449C>A (n.-449C>A)
gnomAD v4
17g.15999858C>GCA398381848TTC19c.10C>G (p.Leu4Val)
c.75C>G
c.25C>G (p.Leu9Val)
c.57C>G
n.35C>G
c.-449C>G (n.-449C>G)
gnomAD v4
17g.15999858C>TCA398381846TTC19c.10C>T (p.Leu4Phe)
c.75C>T
c.25C>T (p.Leu9Phe)
c.57C>T
n.35C>T
c.-449C>T (n.-449C>T)
gnomAD v4
17g.15999859T>ACA398381850TTC19c.11T>A (p.Leu4His)
c.76T>A
c.26T>A (p.Leu9His)
c.58T>A
n.36T>A
c.-448T>A (n.-448T>A)
gnomAD v4
17g.15999859T>CCA398381855TTC19c.11T>C (p.Leu4Pro)
c.76T>C
c.26T>C (p.Leu9Pro)
c.58T>C
n.36T>C
c.-448T>C (n.-448T>C)
dbSNP gnomAD v2 gnomAD v4
17g.15999859T>GCA398381852TTC19c.11T>G (p.Leu4Arg)
c.76T>G
c.26T>G (p.Leu9Arg)
c.58T>G
n.36T>G
c.-448T>G (n.-448T>G)
dbSNP
17g.15999859T=CA2249814953TTC19c.11T= (p.Leu4=)
c.76T=
c.26T= (p.Leu9=)
c.58T=
n.36T=
c.-448T= (n.-448T=)
17g.15999860C>ACA498414282TTC19c.12C>A (p.Leu4=)
c.77C>A
c.27C>A (p.Leu9=)
c.59C>A
n.37C>A
c.-447C>A (n.-447C>A)
gnomAD v4
17g.15999860C=CA2249814954TTC19c.12C= (p.Leu4=)
c.77C=
c.27C= (p.Leu9=)
c.59C=
n.37C=
c.-447C= (n.-447C=)
17g.15999860C>GCA498414283TTC19c.12C>G (p.Leu4=)
c.77C>G
c.27C>G (p.Leu9=)
c.59C>G
n.37C>G
c.-447C>G (n.-447C>G)
17g.15999860C>TCA498414284TTC19c.12C>T (p.Leu4=)
c.77C>T
c.27C>T (p.Leu9=)
c.59C>T
n.37C>T
c.-447C>T (n.-447C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999860_15999863delinsCCTGCA2249814955TTC19c.12_15delinsCCTG (p.Leu4=)
c.77_80delinsCCTG
c.27_30delinsCCTG (p.Leu9=)
c.59_62delinsCCTG
n.37_40delinsCCTG
c.-447_-444delinsCCTG (n.-447_-444delinsCCTG)
17g.15999861C>ACA398381856TTC19c.13C>A (p.Leu5Met)
c.78C>A
c.28C>A (p.Leu10Met)
c.60C>A
n.38C>A
c.-446C>A (n.-446C>A)
17g.15999861C>GCA398381858TTC19c.13C>G (p.Leu5Val)
c.78C>G
c.28C>G (p.Leu10Val)
c.60C>G
n.38C>G
c.-446C>G (n.-446C>G)
17g.15999861C>TCA498414285TTC19c.13C>T (p.Leu5=)
c.78C>T
c.28C>T (p.Leu10=)
c.60C>T
n.38C>T
c.-446C>T (n.-446C>T)
gnomAD v4
17g.15999861_15999863delCA919799546TTC19c.13_15del (p.Leu5del)
c.78_80del
c.28_30del (p.Leu10del)
c.60_62del
n.38_40del
c.-446_-444del (n.-446_-444del)
dbSNP
17g.15999862T>ACA398381860TTC19c.14T>A (p.Leu5Gln)
c.79T>A
c.29T>A (p.Leu10Gln)
c.61T>A
n.39T>A
c.-445T>A (n.-445T>A)
17g.15999862T>CCA398381865TTC19c.14T>C (p.Leu5Pro)
c.79T>C
c.29T>C (p.Leu10Pro)
c.61T>C
n.39T>C
c.-445T>C (n.-445T>C)
dbSNP gnomAD v4
17g.15999862T>GCA398381872TTC19c.14T>G (p.Leu5Arg)
c.79T>G
c.29T>G (p.Leu10Arg)
c.61T>G
n.39T>G
c.-445T>G (n.-445T>G)
17g.15999862T=CA2249814956TTC19c.14T= (p.Leu5=)
c.79T=
c.29T= (p.Leu10=)
c.61T=
n.39T=
c.-445T= (n.-445T=)
17g.15999863G>ACA288187832TTC19c.15G>A (p.Leu5=)
c.80G>A
c.30G>A (p.Leu10=)
c.62G>A
n.40G>A
c.-444G>A (n.-444G>A)
dbSNP gnomAD v4
17g.15999863G>CCA498414286TTC19c.15G>C (p.Leu5=)
c.80G>C
c.30G>C (p.Leu10=)
c.62G>C
n.40G>C
c.-444G>C (n.-444G>C)
17g.15999863G=CA2249814957TTC19c.15G= (p.Leu5=)
c.80G=
c.30G= (p.Leu10=)
c.62G=
n.40G=
c.-444G= (n.-444G=)
17g.15999863G>TCA498414287TTC19c.15G>T (p.Leu5=)
c.80G>T
c.30G>T (p.Leu10=)
c.62G>T
n.40G>T
c.-444G>T (n.-444G>T)
gnomAD v4
17g.15999864A>CCA398381875TTC19c.16A>C (p.Ser6Arg)
c.81A>C
c.31A>C (p.Ser11Arg)
c.63A>C
n.41A>C
c.-443A>C (n.-443A>C)
17g.15999864A>GCA398381879TTC19c.16A>G (p.Ser6Gly)
c.81A>G
c.31A>G (p.Ser11Gly)
c.63A>G
n.41A>G
c.-443A>G (n.-443A>G)
gnomAD v4
17g.15999864A>TCA398381880TTC19c.16A>T (p.Ser6Cys)
c.81A>T
c.31A>T (p.Ser11Cys)
c.63A>T
n.41A>T
c.-443A>T (n.-443A>T)
gnomAD v4
17g.15999864_15999867delinsAGCTCA2249814958TTC19c.16_19delinsAGCT (p.Ser6=)
c.81_84delinsAGCT
c.31_34delinsAGCT (p.Ser11=)
c.63_66delinsAGCT
n.41_44delinsAGCT
c.-443_-440delinsAGCT (n.-443_-440delinsAGCT)
17g.15999865G>ACA398381884TTC19c.17G>A (p.Ser6Asn)
c.82G>A
c.32G>A (p.Ser11Asn)
c.64G>A
n.42G>A
c.-442G>A (n.-442G>A)
ClinVar dbSNP gnomAD v4
17g.15999865G>CCA398381890TTC19c.17G>C (p.Ser6Thr)
c.82G>C
c.32G>C (p.Ser11Thr)
c.64G>C
n.42G>C
c.-442G>C (n.-442G>C)
17g.15999865G=CA2249814959TTC19c.17G= (p.Ser6=)
c.82G=
c.32G= (p.Ser11=)
c.64G=
n.42G=
c.-442G= (n.-442G=)
17g.15999865G>TCA398381893TTC19c.17G>T (p.Ser6Ile)
c.82G>T
c.32G>T (p.Ser11Ile)
c.64G>T
n.42G>T
c.-442G>T (n.-442G>T)
gnomAD v4
17g.15999866_15999868delCA919799548TTC19c.18_20del (p.Ser6_Trp7delinsArg)
c.83_85del
c.33_35del (p.Ser11_Trp12delinsArg)
c.65_67del
n.43_45del
c.-441_-439del (n.-441_-439del)
dbSNP
17g.15999866C>ACA398381898TTC19c.18C>A (p.Ser6Arg)
c.83C>A
c.33C>A (p.Ser11Arg)
c.65C>A
n.43C>A
c.-441C>A (n.-441C>A)
gnomAD v4
17g.15999866C=CA2249814960TTC19c.18C= (p.Ser6=)
c.83C=
c.33C= (p.Ser11=)
c.65C=
n.43C=
c.-441C= (n.-441C=)
17g.15999866C>GCA398381900TTC19c.18C>G (p.Ser6Arg)
c.83C>G
c.33C>G (p.Ser11Arg)
c.65C>G
n.43C>G
c.-441C>G (n.-441C>G)
dbSNP gnomAD v4
17g.15999866C>TCA498414288TTC19c.18C>T (p.Ser6=)
c.83C>T
c.33C>T (p.Ser11=)
c.65C>T
n.43C>T
c.-441C>T (n.-441C>T)
dbSNP gnomAD v3 gnomAD v4
17g.15999867T>ACA398381901TTC19c.19T>A (p.Trp7Arg)
c.84T>A
c.34T>A (p.Trp12Arg)
c.66T>A
n.44T>A
c.-440T>A (n.-440T>A)
17g.15999867T>CCA398381908TTC19c.19T>C (p.Trp7Arg)
c.84T>C
c.34T>C (p.Trp12Arg)
c.66T>C
n.44T>C
c.-440T>C (n.-440T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999867T>GCA398381906TTC19c.19T>G (p.Trp7Gly)
c.84T>G
c.34T>G (p.Trp12Gly)
c.66T>G
n.44T>G
c.-440T>G (n.-440T>G)
17g.15999867T=CA2249814961TTC19c.19T= (p.Trp7=)
c.84T=
c.34T= (p.Trp12=)
c.66T=
n.44T=
c.-440T= (n.-440T=)
17g.15999868G>ACA398381910TTC19c.20G>A (p.Trp7Ter)
c.85G>A
c.35G>A (p.Trp12Ter)
c.67G>A
n.45G>A
c.-439G>A (n.-439G>A)
gnomAD v4
17g.15999868G>CCA398381912TTC19c.20G>C (p.Trp7Ser)
c.85G>C
c.35G>C (p.Trp12Ser)
c.67G>C
n.45G>C
c.-439G>C (n.-439G>C)
17g.15999868G>TCA398381913TTC19c.20G>T (p.Trp7Leu)
c.85G>T
c.35G>T (p.Trp12Leu)
c.67G>T
n.45G>T
c.-439G>T (n.-439G>T)
17g.15999869G>ACA398381915TTC19c.21G>A (p.Trp7Ter)
c.86G>A
c.36G>A (p.Trp12Ter)
c.68G>A
n.46G>A
c.-438G>A (n.-438G>A)
gnomAD v4
17g.15999869G>CCA398381916TTC19c.21G>C (p.Trp7Cys)
c.86G>C
c.36G>C (p.Trp12Cys)
c.68G>C
n.46G>C
c.-438G>C (n.-438G>C)
17g.15999869G=CA2249814962TTC19c.21G= (p.Trp7=)
c.86G=
c.36G= (p.Trp12=)
c.68G=
n.46G=
c.-438G= (n.-438G=)
17g.15999869G>TCA398381919TTC19c.21G>T (p.Trp7Cys)
c.86G>T
c.36G>T (p.Trp12Cys)
c.68G>T
n.46G>T
c.-438G>T (n.-438G>T)
dbSNP gnomAD v2 gnomAD v4
17g.15999870A>CCA398381927TTC19c.22A>C (p.Ser8Arg)
c.87A>C
c.37A>C (p.Ser13Arg)
c.69A>C
n.47A>C
c.-437A>C (n.-437A>C)
17g.15999870A>GCA398381929TTC19c.22A>G (p.Ser8Gly)
c.87A>G
c.37A>G (p.Ser13Gly)
c.69A>G
n.47A>G
c.-437A>G (n.-437A>G)
gnomAD v4
17g.15999870A>TCA398381932TTC19c.22A>T (p.Ser8Cys)
c.87A>T
c.37A>T (p.Ser13Cys)
c.69A>T
n.47A>T
c.-437A>T (n.-437A>T)
17g.15999871G>ACA8407234TTC19c.23G>A (p.Ser8Asn)
c.88G>A
c.38G>A (p.Ser13Asn)
c.70G>A
n.48G>A
c.-436G>A (n.-436G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.15999871G>CCA320090TTC19c.23G>C (p.Ser8Thr)
c.88G>C
c.38G>C (p.Ser13Thr)
c.70G>C
n.48G>C
c.-436G>C (n.-436G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999871G=CA2249814963TTC19c.23G= (p.Ser8=)
c.88G=
c.38G= (p.Ser13=)
c.70G=
n.48G=
c.-436G= (n.-436G=)
17g.15999871G>TCA398381937TTC19c.23G>T (p.Ser8Ile)
c.88G>T
c.38G>T (p.Ser13Ile)
c.70G>T
n.48G>T
c.-436G>T (n.-436G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999872C>ACA398381948TTC19c.24C>A (p.Ser8Arg)
c.89C>A
c.39C>A (p.Ser13Arg)
c.71C>A
n.49C>A
c.-435C>A (n.-435C>A)
gnomAD v4
17g.15999872C=CA2249814964TTC19c.24C= (p.Ser8=)
c.89C=
c.39C= (p.Ser13=)
c.71C=
n.49C=
c.-435C= (n.-435C=)
17g.15999872C>GCA398381951TTC19c.24C>G (p.Ser8Arg)
c.89C>G
c.39C>G (p.Ser13Arg)
c.71C>G
n.49C>G
c.-435C>G (n.-435C>G)
gnomAD v4
17g.15999872C>TCA8407235TTC19c.24C>T (p.Ser8=)
c.89C>T
c.39C>T (p.Ser13=)
c.71C>T
n.49C>T
c.-435C>T (n.-435C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999873C>ACA398381952TTC19c.25C>A (p.Leu9Met)
c.90C>A
c.40C>A (p.Leu14Met)
c.72C>A
n.50C>A
c.-434C>A (n.-434C>A)
gnomAD v4
17g.15999873C=CA2249814965TTC19c.25C= (p.Leu9=)
c.90C=
c.40C= (p.Leu14=)
c.72C=
n.50C=
c.-434C= (n.-434C=)
17g.15999873C>GCA398381953TTC19c.25C>G (p.Leu9Val)
c.90C>G
c.40C>G (p.Leu14Val)
c.72C>G
n.50C>G
c.-434C>G (n.-434C>G)
gnomAD v4
17g.15999873C>TCA10649539TTC19c.25C>T (p.Leu9=)
c.90C>T
c.40C>T (p.Leu14=)
c.72C>T
n.50C>T
c.-434C>T (n.-434C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999874T>ACA398381955TTC19c.26T>A (p.Leu9Gln)
c.91T>A
c.41T>A (p.Leu14Gln)
c.73T>A
n.51T>A
c.-433T>A (n.-433T>A)
gnomAD v4
17g.15999874T>CCA398381958TTC19c.26T>C (p.Leu9Pro)
c.91T>C
c.41T>C (p.Leu14Pro)
c.73T>C
n.51T>C
c.-433T>C (n.-433T>C)
gnomAD v4
17g.15999874T>GCA398381961TTC19c.26T>G (p.Leu9Arg)
c.91T>G
c.41T>G (p.Leu14Arg)
c.73T>G
n.51T>G
c.-433T>G (n.-433T>G)
17g.15999875G>ACA498414290TTC19c.27G>A (p.Leu9=)
c.92G>A
c.42G>A (p.Leu14=)
c.74G>A
n.52G>A
c.-432G>A (n.-432G>A)
17g.15999875G>CCA8407236TTC19c.27G>C (p.Leu9=)
c.92G>C
c.42G>C (p.Leu14=)
c.74G>C
n.52G>C
c.-432G>C (n.-432G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.15999875G=CA2249814966TTC19c.27G= (p.Leu9=)
c.92G=
c.42G= (p.Leu14=)
c.74G=
n.52G=
c.-432G= (n.-432G=)
17g.15999875G>TCA498414289TTC19c.27G>T (p.Leu9=)
c.92G>T
c.42G>T (p.Leu14=)
c.74G>T
n.52G>T
c.-432G>T (n.-432G>T)
gnomAD v4
17g.15999876G>ACA398381964TTC19c.28G>A (p.Gly10Ser)
c.93G>A
c.43G>A (p.Gly15Ser)
c.75G>A
n.53G>A
c.-431G>A (n.-431G>A)
dbSNP gnomAD v2 gnomAD v4
17g.15999876G>CCA398381967TTC19c.28G>C (p.Gly10Arg)
c.93G>C
c.43G>C (p.Gly15Arg)
c.75G>C
n.53G>C
c.-431G>C (n.-431G>C)
17g.15999876G=CA2249814967TTC19c.28G= (p.Gly10=)
c.93G=
c.43G= (p.Gly15=)
c.75G=
n.53G=
c.-431G= (n.-431G=)
17g.15999876G>TCA398381970TTC19c.28G>T (p.Gly10Cys)
c.93G>T
c.43G>T (p.Gly15Cys)
c.75G>T
n.53G>T
c.-431G>T (n.-431G>T)
gnomAD v4
17g.15999877G>ACA398381999TTC19c.29G>A (p.Gly10Asp)
c.94G>A
c.44G>A (p.Gly15Asp)
c.76G>A
n.54G>A
c.-430G>A (n.-430G>A)
gnomAD v4
17g.15999877G>CCA398381993TTC19c.29G>C (p.Gly10Ala)
c.94G>C
c.44G>C (p.Gly15Ala)
c.76G>C
n.54G>C
c.-430G>C (n.-430G>C)
17g.15999877G>TCA398381996TTC19c.29G>T (p.Gly10Val)
c.94G>T
c.44G>T (p.Gly15Val)
c.76G>T
n.54G>T
c.-430G>T (n.-430G>T)
gnomAD v4
17g.15999878C>ACA498414291TTC19c.30C>A (p.Gly10=)
c.95C>A
c.45C>A (p.Gly15=)
c.77C>A
n.55C>A
c.-429C>A (n.-429C>A)
gnomAD v4
17g.15999878C>GCA498414293TTC19c.30C>G (p.Gly10=)
c.95C>G
c.45C>G (p.Gly15=)
c.77C>G
n.55C>G
c.-429C>G (n.-429C>G)
17g.15999878C>TCA498414292TTC19c.30C>T (p.Gly10=)
c.95C>T
c.45C>T (p.Gly15=)
c.77C>T
n.55C>T
c.-429C>T (n.-429C>T)
gnomAD v4
17g.15999879C>ACA498414294TTC19c.31C>A (p.Arg11=)
c.96C>A
c.46C>A (p.Arg16=)
c.78C>A
n.56C>A
c.-428C>A (n.-428C>A)
gnomAD v4
17g.15999879C=CA2249814968TTC19c.31C= (p.Arg11=)
c.96C=
c.46C= (p.Arg16=)
c.78C=
n.56C=
c.-428C= (n.-428C=)
17g.15999879C>GCA398382006TTC19c.31C>G (p.Arg11Gly)
c.96C>G
c.46C>G (p.Arg16Gly)
c.78C>G
n.56C>G
c.-428C>G (n.-428C>G)
dbSNP gnomAD v2 gnomAD v4
17g.15999879C>TCA398382008TTC19c.31C>T (p.Arg11Ter)
c.96C>T
c.46C>T (p.Arg16Ter)
c.78C>T
n.56C>T
c.-428C>T (n.-428C>T)
dbSNP gnomAD v4
17g.15999880G>ACA398382012TTC19c.32G>A (p.Arg11Gln)
c.97G>A
c.47G>A (p.Arg16Gln)
c.79G>A
n.57G>A
c.-427G>A (n.-427G>A)
gnomAD v4
17g.15999880G>CCA398382015TTC19c.32G>C (p.Arg11Pro)
c.97G>C
c.47G>C (p.Arg16Pro)
c.79G>C
n.57G>C
c.-427G>C (n.-427G>C)
dbSNP gnomAD v2 gnomAD v4
17g.15999880G=CA2249814969TTC19c.32G= (p.Arg11=)
c.97G=
c.47G= (p.Arg16=)
c.79G=
n.57G=
c.-427G= (n.-427G=)
17g.15999880G>TCA398382021TTC19c.32G>T (p.Arg11Leu)
c.97G>T
c.47G>T (p.Arg16Leu)
c.79G>T
n.57G>T
c.-427G>T (n.-427G>T)
17g.15999881A>CCA498414295TTC19c.33A>C (p.Arg11=)
c.98A>C
c.48A>C (p.Arg16=)
c.80A>C
n.58A>C
c.-426A>C (n.-426A>C)
17g.15999881A>GCA498414296TTC19c.33A>G (p.Arg11=)
c.98A>G
c.48A>G (p.Arg16=)
c.80A>G
n.58A>G
c.-426A>G (n.-426A>G)
gnomAD v4
17g.15999881A>TCA498414297TTC19c.33A>T (p.Arg11=)
c.98A>T
c.48A>T (p.Arg16=)
c.80A>T
n.58A>T
c.-426A>T (n.-426A>T)
17g.15999882G>ACA398382023TTC19c.34G>A (p.Gly12Ser)
c.99G>A
c.49G>A (p.Gly17Ser)
c.81G>A
n.59G>A
c.-425G>A (n.-425G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999882G>CCA398382025TTC19c.34G>C (p.Gly12Arg)
c.99G>C
c.49G>C (p.Gly17Arg)
c.81G>C
n.59G>C
c.-425G>C (n.-425G>C)
17g.15999882G=CA2249814970TTC19c.34G= (p.Gly12=)
c.99G=
c.49G= (p.Gly17=)
c.81G=
n.59G=
c.-425G= (n.-425G=)
17g.15999882G>TCA398382027TTC19c.34G>T (p.Gly12Cys)
c.99G>T
c.49G>T (p.Gly17Cys)
c.81G>T
n.59G>T
c.-425G>T (n.-425G>T)
17g.15999883G>ACA398382034TTC19c.35G>A (p.Gly12Asp)
c.100G>A
c.50G>A (p.Gly17Asp)
c.82G>A
n.60G>A
c.-424G>A (n.-424G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999883G>CCA398382036TTC19c.35G>C (p.Gly12Ala)
c.100G>C
c.50G>C (p.Gly17Ala)
c.82G>C
n.60G>C
c.-424G>C (n.-424G>C)
gnomAD v4
17g.15999883G=CA2249814971TTC19c.35G= (p.Gly12=)
c.100G=
c.50G= (p.Gly17=)
c.82G=
n.60G=
c.-424G= (n.-424G=)
17g.15999883G>TCA398382040TTC19c.35G>T (p.Gly12Val)
c.100G>T
c.50G>T (p.Gly17Val)
c.82G>T
n.60G>T
c.-424G>T (n.-424G>T)
gnomAD v4
17g.15999884C>ACA498414298TTC19c.36C>A (p.Gly12=)
c.101C>A
c.51C>A (p.Gly17=)
c.83C>A
n.61C>A
c.-423C>A (n.-423C>A)
gnomAD v4
17g.15999884C>GCA498414299TTC19c.36C>G (p.Gly12=)
c.101C>G
c.51C>G (p.Gly17=)
c.83C>G
n.61C>G
c.-423C>G (n.-423C>G)
17g.15999884C>TCA498414300TTC19c.36C>T (p.Gly12=)
c.101C>T
c.51C>T (p.Gly17=)
c.83C>T
n.61C>T
c.-423C>T (n.-423C>T)
17g.15999885T>ACA398382059TTC19c.37T>A (p.Phe13Ile)
c.102T>A
c.52T>A (p.Phe18Ile)
c.84T>A
n.62T>A
c.-422T>A (n.-422T>A)
17g.15999885T>CCA398382056TTC19c.37T>C (p.Phe13Leu)
c.102T>C
c.52T>C (p.Phe18Leu)
c.84T>C
n.62T>C
c.-422T>C (n.-422T>C)
gnomAD v4
17g.15999885T>GCA398382046TTC19c.37T>G (p.Phe13Val)
c.102T>G
c.52T>G (p.Phe18Val)
c.84T>G
n.62T>G
c.-422T>G (n.-422T>G)
gnomAD v4
17g.15999886T>ACA398382063TTC19c.38T>A (p.Phe13Tyr)
c.103T>A
c.53T>A (p.Phe18Tyr)
c.85T>A
n.63T>A
c.-421T>A (n.-421T>A)
17g.15999886T>CCA398382065TTC19c.38T>C (p.Phe13Ser)
c.103T>C
c.53T>C (p.Phe18Ser)
c.85T>C
n.63T>C
c.-421T>C (n.-421T>C)
gnomAD v4
17g.15999886T>GCA398382067TTC19c.38T>G (p.Phe13Cys)
c.103T>G
c.53T>G (p.Phe18Cys)
c.85T>G
n.63T>G
c.-421T>G (n.-421T>G)
ClinVar gnomAD v4
17g.15999887C>ACA398382070TTC19c.39C>A (p.Phe13Leu)
c.104C>A
c.54C>A (p.Phe18Leu)
c.86C>A
n.64C>A
c.-420C>A (n.-420C>A)
gnomAD v4
17g.15999887C=CA2249814972TTC19c.39C= (p.Phe13=)
c.104C=
c.54C= (p.Phe18=)
c.86C=
n.64C=
c.-420C= (n.-420C=)
17g.15999887C>GCA398382071TTC19c.39C>G (p.Phe13Leu)
c.104C>G
c.54C>G (p.Phe18Leu)
c.86C>G
n.64C>G
c.-420C>G (n.-420C>G)
17g.15999887C>TCA498414301TTC19c.39C>T (p.Phe13=)
c.104C>T
c.54C>T (p.Phe18=)
c.86C>T
n.64C>T
c.-420C>T (n.-420C>T)
dbSNP gnomAD v3 gnomAD v4
17g.15999888C>ACA398382074TTC19c.40C>A (p.Leu14Met)
c.105C>A
c.55C>A (p.Leu19Met)
c.87C>A
n.65C>A
c.-419C>A (n.-419C>A)
gnomAD v4
17g.15999888C=CA2249814973TTC19c.40C= (p.Leu14=)
c.105C=
c.55C= (p.Leu19=)
c.87C=
n.65C=
c.-419C= (n.-419C=)
17g.15999888C>GCA398382077TTC19c.40C>G (p.Leu14Val)
c.105C>G
c.55C>G (p.Leu19Val)
c.87C>G
n.65C>G
c.-419C>G (n.-419C>G)
17g.15999888C>TCA498414302TTC19c.40C>T (p.Leu14=)
c.105C>T
c.55C>T (p.Leu19=)
c.87C>T
n.65C>T
c.-419C>T (n.-419C>T)
dbSNP gnomAD v4
17g.15999889T>ACA398382081TTC19c.41T>A (p.Leu14Gln)
c.106T>A
c.56T>A (p.Leu19Gln)
c.88T>A
n.66T>A
c.-418T>A (n.-418T>A)
17g.15999889T>CCA398382079TTC19c.41T>C (p.Leu14Pro)
c.106T>C
c.56T>C (p.Leu19Pro)
c.88T>C
n.66T>C
c.-418T>C (n.-418T>C)
dbSNP gnomAD v4
17g.15999889T>GCA398382080TTC19c.41T>G (p.Leu14Arg)
c.106T>G
c.56T>G (p.Leu19Arg)
c.88T>G
n.66T>G
c.-418T>G (n.-418T>G)
gnomAD v4
17g.15999889T=CA2249814974TTC19c.41T= (p.Leu14=)
c.106T=
c.56T= (p.Leu19=)
c.88T=
n.66T=
c.-418T= (n.-418T=)
17g.15999890G>ACA498414303TTC19c.42G>A (p.Leu14=)
c.107G>A
c.57G>A (p.Leu19=)
c.89G>A
n.67G>A
c.-417G>A (n.-417G>A)
17g.15999890G>CCA498414304TTC19c.42G>C (p.Leu14=)
c.107G>C
c.57G>C (p.Leu19=)
c.89G>C
n.67G>C
c.-417G>C (n.-417G>C)
17g.15999890G>TCA498414305TTC19c.42G>T (p.Leu14=)
c.107G>T
c.57G>T (p.Leu19=)
c.89G>T
n.67G>T
c.-417G>T (n.-417G>T)
17g.15999891C>ACA498414306TTC19c.43C>A (p.Arg15=)
c.108C>A
c.58C>A (p.Arg20=)
c.90C>A
n.68C>A
c.-416C>A (n.-416C>A)
gnomAD v4
17g.15999891C>GCA398382082TTC19c.43C>G (p.Arg15Gly)
c.108C>G
c.58C>G (p.Arg20Gly)
c.90C>G
n.68C>G
c.-416C>G (n.-416C>G)
17g.15999891C>TCA398382083TTC19c.43C>T (p.Arg15Trp)
c.108C>T
c.58C>T (p.Arg20Trp)
c.90C>T
n.68C>T
c.-416C>T (n.-416C>T)
gnomAD v4
17g.15999892G>ACA398382086TTC19c.44G>A (p.Arg15Gln)
c.109G>A
c.59G>A (p.Arg20Gln)
c.91G>A
n.69G>A
c.-415G>A (n.-415G>A)
gnomAD v4
17g.15999892G>CCA398382088TTC19c.44G>C (p.Arg15Pro)
c.109G>C
c.59G>C (p.Arg20Pro)
c.91G>C
n.69G>C
c.-415G>C (n.-415G>C)
17g.15999892G>TCA398382090TTC19c.44G>T (p.Arg15Leu)
c.109G>T
c.59G>T (p.Arg20Leu)
c.91G>T
n.69G>T
c.-415G>T (n.-415G>T)
gnomAD v4
17g.15999893G>ACA498414307TTC19c.45G>A (p.Arg15=)
c.110G>A
c.60G>A (p.Arg20=)
c.92G>A
n.70G>A
c.-414G>A (n.-414G>A)
gnomAD v4
17g.15999893G>CCA498414308TTC19c.45G>C (p.Arg15=)
c.110G>C
c.60G>C (p.Arg20=)
c.92G>C
n.70G>C
c.-414G>C (n.-414G>C)
gnomAD v4
17g.15999893G>TCA498414309TTC19c.45G>T (p.Arg15=)
c.110G>T
c.60G>T (p.Arg20=)
c.92G>T
n.70G>T
c.-414G>T (n.-414G>T)
17g.15999894G>ACA398382092TTC19c.46G>A (p.Ala16Thr)
c.111G>A
c.61G>A (p.Ala21Thr)
c.93G>A
n.71G>A
c.-413G>A (n.-413G>A)
dbSNP gnomAD v2 gnomAD v4
17g.15999894G>CCA398382100TTC19c.46G>C (p.Ala16Pro)
c.111G>C
c.61G>C (p.Ala21Pro)
c.93G>C
n.71G>C
c.-413G>C (n.-413G>C)
dbSNP gnomAD v3 gnomAD v4
17g.15999894G=CA2249814975TTC19c.46G= (p.Ala16=)
c.111G=
c.61G= (p.Ala21=)
c.93G=
n.71G=
c.-413G= (n.-413G=)
17g.15999894G>TCA398382094TTC19c.46G>T (p.Ala16Ser)
c.111G>T
c.61G>T (p.Ala21Ser)
c.93G>T
n.71G>T
c.-413G>T (n.-413G>T)
gnomAD v4
17g.15999895C>ACA398382104TTC19c.47C>A (p.Ala16Asp)
c.112C>A
c.62C>A (p.Ala21Asp)
c.94C>A
n.72C>A
c.-412C>A (n.-412C>A)
gnomAD v4
17g.15999895C>GCA398382105TTC19c.47C>G (p.Ala16Gly)
c.112C>G
c.62C>G (p.Ala21Gly)
c.94C>G
n.72C>G
c.-412C>G (n.-412C>G)
gnomAD v4
17g.15999895C>TCA398382114TTC19c.47C>T (p.Ala16Val)
c.112C>T
c.62C>T (p.Ala21Val)
c.94C>T
n.72C>T
c.-412C>T (n.-412C>T)
gnomAD v4
17g.15999896C>ACA498414310TTC19c.48C>A (p.Ala16=)
c.113C>A
c.63C>A (p.Ala21=)
c.95C>A
n.73C>A
c.-411C>A (n.-411C>A)
gnomAD v4
17g.15999896C>GCA498414311TTC19c.48C>G (p.Ala16=)
c.113C>G
c.63C>G (p.Ala21=)
c.95C>G
n.73C>G
c.-411C>G (n.-411C>G)
17g.15999896C>TCA498414312TTC19c.48C>T (p.Ala16=)
c.113C>T
c.63C>T (p.Ala21=)
c.95C>T
n.73C>T
c.-411C>T (n.-411C>T)
gnomAD v4
17g.15999898_15999899delCA2636259685TTC19c.50_51del (p.Ala17GlyfsTer?)
c.115_116del
c.65_66del (p.Ala22GlyfsTer?)
c.97_98del
n.75_76del
c.-409_-408del (n.-409_-408del)
gnomAD v4
17g.15999897G>ACA398382116TTC19c.49G>A (p.Ala17Thr)
c.114G>A
c.64G>A (p.Ala22Thr)
c.96G>A
n.74G>A
c.-410G>A (n.-410G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.15999897G>CCA398382118TTC19c.49G>C (p.Ala17Pro)
c.114G>C
c.64G>C (p.Ala22Pro)
c.96G>C
n.74G>C
c.-410G>C (n.-410G>C)
17g.15999897G=CA2249814976TTC19c.49G= (p.Ala17=)
c.114G=
c.64G= (p.Ala22=)
c.96G=
n.74G=
c.-410G= (n.-410G=)
17g.15999897G>TCA398382121TTC19c.49G>T (p.Ala17Ser)
c.114G>T
c.64G>T (p.Ala22Ser)
c.96G>T
n.74G>T
c.-410G>T (n.-410G>T)
gnomAD v4
17g.15999897dupCA2566747824TTC19c.49dup (p.Ala17GlyfsTer?)
c.114dup
c.64dup (p.Ala22GlyfsTer?)
c.96dup
n.74dup
c.-410dup (n.-410dup)
17g.15999898C>ACA398382124TTC19c.50C>A (p.Ala17Glu)
c.115C>A
c.65C>A (p.Ala22Glu)
c.97C>A
n.75C>A
c.-409C>A (n.-409C>A)
17g.15999898C=CA2249814977TTC19c.50C= (p.Ala17=)
c.115C=
c.65C= (p.Ala22=)
c.97C=
n.75C=
c.-409C= (n.-409C=)
17g.15999898C>GCA398382125TTC19c.50C>G (p.Ala17Gly)
c.115C>G
c.65C>G (p.Ala22Gly)
c.97C>G
n.75C>G
c.-409C>G (n.-409C>G)
17g.15999898C>TCA8407237TTC19c.50C>T (p.Ala17Val)
c.115C>T
c.65C>T (p.Ala22Val)
c.97C>T
n.75C>T
c.-409C>T (n.-409C>T)
dbSNP ExAC gnomAD v3 gnomAD v4
17g.15999899G>ACA498414313TTC19c.51G>A (p.Ala17=)
c.116G>A
c.66G>A (p.Ala22=)
c.98G>A
n.76G>A
c.-408G>A (n.-408G>A)
dbSNP gnomAD v2 gnomAD v4
17g.15999899G>CCA498414314TTC19c.51G>C (p.Ala17=)
c.116G>C
c.66G>C (p.Ala22=)
c.98G>C
n.76G>C
c.-408G>C (n.-408G>C)
dbSNP
17g.15999899G=CA2249814978TTC19c.51G= (p.Ala17=)
c.116G=
c.66G= (p.Ala22=)
c.98G=
n.76G=
c.-408G= (n.-408G=)
17g.15999899G>TCA498414315TTC19c.51G>T (p.Ala17=)
c.116G>T
c.66G>T (p.Ala22=)
c.98G>T
n.76G>T
c.-408G>T (n.-408G>T)
gnomAD v4
17g.15999902delCA2636259686TTC19c.54del (p.Arg19GlyfsTer?)
c.119del
c.69del (p.Arg24GlyfsTer?)
c.101del
n.79del
c.-405del (n.-405del)
gnomAD v4
17g.15999901_15999916delCA2636259687TTC19c.53_68del (p.Gly18AlafsTer?)
c.118_133del
c.68_83del (p.Gly23AlafsTer?)
c.100_115del
n.78_93del
c.-406_-391del (n.-406_-391del)
gnomAD v4
17g.15999900G>ACA398382130TTC19c.52G>A (p.Gly18Arg)
c.117G>A
c.67G>A (p.Gly23Arg)
c.99G>A
n.77G>A
c.-407G>A (n.-407G>A)
gnomAD v4
17g.15999900G>CCA398382131TTC19c.52G>C (p.Gly18Arg)
c.117G>C
c.67G>C (p.Gly23Arg)
c.99G>C
n.77G>C
c.-407G>C (n.-407G>C)
17g.15999900G>TCA398382134TTC19c.52G>T (p.Gly18Trp)
c.117G>T
c.67G>T (p.Gly23Trp)
c.99G>T
n.77G>T
c.-407G>T (n.-407G>T)
gnomAD v4
17g.15999901G>ACA398382139TTC19c.53G>A (p.Gly18Glu)
c.118G>A
c.68G>A (p.Gly23Glu)
c.100G>A
n.78G>A
c.-406G>A (n.-406G>A)
gnomAD v4
17g.15999901G>CCA398382145TTC19c.53G>C (p.Gly18Ala)
c.118G>C
c.68G>C (p.Gly23Ala)
c.100G>C
n.78G>C
c.-406G>C (n.-406G>C)
17g.15999901G>TCA398382142TTC19c.53G>T (p.Gly18Val)
c.118G>T
c.68G>T (p.Gly23Val)
c.100G>T
n.78G>T
c.-406G>T (n.-406G>T)
17g.15999902G>ACA498414316TTC19c.54G>A (p.Gly18=)
c.119G>A
c.69G>A (p.Gly23=)
c.101G>A
n.79G>A
c.-405G>A (n.-405G>A)
gnomAD v4
17g.15999902G>CCA498414317TTC19c.54G>C (p.Gly18=)
c.119G>C
c.69G>C (p.Gly23=)
c.101G>C
n.79G>C
c.-405G>C (n.-405G>C)
17g.15999902G>TCA498414318TTC19c.54G>T (p.Gly18=)
c.119G>T
c.69G>T (p.Gly23=)
c.101G>T
n.79G>T
c.-405G>T (n.-405G>T)
gnomAD v4
17g.15999903C>ACA498414319TTC19c.55C>A (p.Arg19=)
c.120C>A
c.70C>A (p.Arg24=)
c.102C>A
n.80C>A
c.-404C>A (n.-404C>A)
gnomAD v4
17g.15999903C>GCA398382146TTC19c.55C>G (p.Arg19Gly)
c.120C>G
c.70C>G (p.Arg24Gly)
c.102C>G
n.80C>G
c.-404C>G (n.-404C>G)
dbSNP
17g.15999903C>TCA398382147TTC19c.55C>T (p.Arg19Trp)
c.120C>T
c.70C>T (p.Arg24Trp)
c.102C>T
n.80C>T
c.-404C>T (n.-404C>T)
gnomAD v4
17g.15999904G>ACA398382148TTC19c.56G>A (p.Arg19Gln)
c.121G>A
c.71G>A (p.Arg24Gln)
c.103G>A
n.81G>A
c.-403G>A (n.-403G>A)
gnomAD v4
17g.15999904G>CCA398382149TTC19c.56G>C (p.Arg19Pro)
c.121G>C
c.71G>C (p.Arg24Pro)
c.103G>C
n.81G>C
c.-403G>C (n.-403G>C)
gnomAD v4
17g.15999904G>TCA398382152TTC19c.56G>T (p.Arg19Leu)
c.121G>T
c.71G>T (p.Arg24Leu)
c.103G>T
n.81G>T
c.-403G>T (n.-403G>T)
gnomAD v4
17g.15999905G>ACA498414320TTC19c.57G>A (p.Arg19=)
c.122G>A
c.72G>A (p.Arg24=)
c.104G>A
n.82G>A
c.-402G>A (n.-402G>A)
17g.15999905G>CCA498414321TTC19c.57G>C (p.Arg19=)
c.122G>C
c.72G>C (p.Arg24=)
c.104G>C
n.82G>C
c.-402G>C (n.-402G>C)
17g.15999905G>TCA498414322TTC19c.57G>T (p.Arg19=)
c.122G>T
c.72G>T (p.Arg24=)
c.104G>T
n.82G>T
c.-402G>T (n.-402G>T)
17g.15999906C>ACA498414323TTC19c.58C>A (p.Arg20=)
c.123C>A
c.73C>A (p.Arg25=)
c.105C>A
n.83C>A
c.-401C>A (n.-401C>A)
gnomAD v4
17g.15999906C=CA2249814979TTC19c.58C= (p.Arg20=)
c.123C=
c.73C= (p.Arg25=)
c.105C=
n.83C=
c.-401C= (n.-401C=)
17g.15999906C>GCA398382156TTC19c.58C>G (p.Arg20Gly)
c.123C>G
c.73C>G (p.Arg25Gly)
c.105C>G
n.83C>G
c.-401C>G (n.-401C>G)
gnomAD v4
17g.15999906C>TCA398382158TTC19c.58C>T (p.Arg20Trp)
c.123C>T
c.73C>T (p.Arg25Trp)
c.105C>T
n.83C>T
c.-401C>T (n.-401C>T)
dbSNP gnomAD v4
17g.15999907G>ACA398382163TTC19c.59G>A (p.Arg20Gln)
c.124G>A
c.74G>A (p.Arg25Gln)
c.106G>A
n.84G>A
c.-400G>A (n.-400G>A)
gnomAD v4
17g.15999907G>CCA398382171TTC19c.59G>C (p.Arg20Pro)
c.124G>C
c.74G>C (p.Arg25Pro)
c.106G>C
n.84G>C
c.-400G>C (n.-400G>C)
17g.15999907G>TCA398382172TTC19c.59G>T (p.Arg20Leu)
c.124G>T
c.74G>T (p.Arg25Leu)
c.106G>T
n.84G>T
c.-400G>T (n.-400G>T)
17g.15999908G>ACA498414324TTC19c.60G>A (p.Arg20=)
c.125G>A
c.75G>A (p.Arg25=)
c.107G>A
n.85G>A
c.-399G>A (n.-399G>A)
dbSNP gnomAD v2 gnomAD v4
17g.15999908G>CCA498414326TTC19c.60G>C (p.Arg20=)
c.125G>C
c.75G>C (p.Arg25=)
c.107G>C
n.85G>C
c.-399G>C (n.-399G>C)
17g.15999908G=CA2249814980TTC19c.60G= (p.Arg20=)
c.125G=
c.75G= (p.Arg25=)
c.107G=
n.85G=
c.-399G= (n.-399G=)
17g.15999908G>TCA498414325TTC19c.60G>T (p.Arg20=)
c.125G>T
c.75G>T (p.Arg25=)
c.107G>T
n.85G>T
c.-399G>T (n.-399G>T)
gnomAD v4
17g.15999909T>ACA398382173TTC19c.61T>A (p.Cys21Ser)
c.126T>A
c.76T>A (p.Cys26Ser)
c.108T>A
n.86T>A
c.-398T>A (n.-398T>A)
17g.15999909T>CCA398382174TTC19c.61T>C (p.Cys21Arg)
c.126T>C
c.76T>C (p.Cys26Arg)
c.108T>C
n.86T>C
c.-398T>C (n.-398T>C)
17g.15999909T>GCA398382175TTC19c.61T>G (p.Cys21Gly)
c.126T>G
c.76T>G (p.Cys26Gly)
c.108T>G
n.86T>G
c.-398T>G (n.-398T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999909T=CA2249814981TTC19c.61T= (p.Cys21=)
c.126T=
c.76T= (p.Cys26=)
c.108T=
n.86T=
c.-398T= (n.-398T=)
17g.15999910G>ACA398382178TTC19c.62G>A (p.Cys21Tyr)
c.127G>A
c.77G>A (p.Cys26Tyr)
c.109G>A
n.87G>A
c.-397G>A (n.-397G>A)
gnomAD v4
17g.15999910G>CCA398382183TTC19c.62G>C (p.Cys21Ser)
c.127G>C
c.77G>C (p.Cys26Ser)
c.109G>C
n.87G>C
c.-397G>C (n.-397G>C)
17g.15999910G>TCA398382181TTC19c.62G>T (p.Cys21Phe)
c.127G>T
c.77G>T (p.Cys26Phe)
c.109G>T
n.87G>T
c.-397G>T (n.-397G>T)
gnomAD v4
17g.15999910_15999935delinsGCCGGGGCTGCTCCGCGCGCCTGCTCCA2249814982TTC19c.62_87delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys21=)
c.127_152delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
c.77_102delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (p.Cys26=)
c.109_134delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
n.87_112delinsGCCGGGGCTGCTCCGCGCGCCTGCTC
c.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC (n.-397_-372delinsGCCGGGGCTGCTCCGCGCGCCTGCTC)
17g.15999911C>ACA398382185TTC19c.63C>A (p.Cys21Ter)
c.128C>A
c.78C>A (p.Cys26Ter)
c.110C>A
n.88C>A
c.-396C>A (n.-396C>A)
gnomAD v4
17g.15999911C=CA2249814983TTC19c.63C= (p.Cys21=)
c.128C=
c.78C= (p.Cys26=)
c.110C=
n.88C=
c.-396C= (n.-396C=)
17g.15999911C>GCA398382187TTC19c.63C>G (p.Cys21Trp)
c.128C>G
c.78C>G (p.Cys26Trp)
c.110C>G
n.88C>G
c.-396C>G (n.-396C>G)
17g.15999911C>TCA498414327TTC19c.63C>T (p.Cys21=)
c.128C>T
c.78C>T (p.Cys26=)
c.110C>T
n.88C>T
c.-396C>T (n.-396C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999920_15999944delCA726478704TTC19c.72_96del (p.Cys24TrpfsTer?)
c.137_161del
c.87_111del (p.Cys29TrpfsTer?)
c.119_143del
n.97_121del
c.-387_-363del (n.-387_-363del)
dbSNP gnomAD v3 gnomAD v4
17g.15999912C>ACA498414328TTC19c.64C>A (p.Arg22=)
c.129C>A
c.79C>A (p.Arg27=)
c.111C>A
n.89C>A
c.-395C>A (n.-395C>A)
gnomAD v4
17g.15999912C=CA2249814984TTC19c.64C= (p.Arg22=)
c.129C=
c.79C= (p.Arg27=)
c.111C=
n.89C=
c.-395C= (n.-395C=)
17g.15999912C>GCA398382189TTC19c.64C>G (p.Arg22Gly)
c.129C>G
c.79C>G (p.Arg27Gly)
c.111C>G
n.89C>G
c.-395C>G (n.-395C>G)
17g.15999912C>TCA398382190TTC19c.64C>T (p.Arg22Trp)
c.129C>T
c.79C>T (p.Arg27Trp)
c.111C>T
n.89C>T
c.-395C>T (n.-395C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999914_15999926dupCA2636259688TTC19c.66_78dup (p.Arg27GlyfsTer?)
c.131_143dup
c.81_93dup (p.Arg32GlyfsTer?)
c.113_125dup
n.91_103dup
c.-393_-381dup (n.-393_-381dup)
gnomAD v4
17g.15999913G>ACA398382192TTC19c.65G>A (p.Arg22Gln)
c.130G>A
c.80G>A (p.Arg27Gln)
c.112G>A
n.90G>A
c.-394G>A (n.-394G>A)
gnomAD v4
17g.15999913G>CCA398382195TTC19c.65G>C (p.Arg22Pro)
c.130G>C
c.80G>C (p.Arg27Pro)
c.112G>C
n.90G>C
c.-394G>C (n.-394G>C)
dbSNP gnomAD v4
17g.15999913G=CA2249814985TTC19c.65G= (p.Arg22=)
c.130G=
c.80G= (p.Arg27=)
c.112G=
n.90G=
c.-394G= (n.-394G=)
17g.15999913G>TCA398382198TTC19c.65G>T (p.Arg22Leu)
c.130G>T
c.80G>T (p.Arg27Leu)
c.112G>T
n.90G>T
c.-394G>T (n.-394G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.15999914G>ACA8407238TTC19c.66G>A (p.Arg22=)
c.131G>A
c.81G>A (p.Arg27=)
c.113G>A
n.91G>A
c.-393G>A (n.-393G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.15999914G>CCA498414329TTC19c.66G>C (p.Arg22=)
c.131G>C
c.81G>C (p.Arg27=)
c.113G>C
n.91G>C
c.-393G>C (n.-393G>C)
gnomAD v4
17g.15999914G=CA2249814986TTC19c.66G= (p.Arg22=)
c.131G=
c.81G= (p.Arg27=)
c.113G=
n.91G=
c.-393G= (n.-393G=)
17g.15999914G>TCA498414330TTC19c.66G>T (p.Arg22=)
c.131G>T
c.81G>T (p.Arg27=)
c.113G>T
n.91G>T
c.-393G>T (n.-393G>T)
gnomAD v4
17g.15999915G>ACA398382206TTC19c.67G>A (p.Gly23Ser)
c.132G>A
c.82G>A (p.Gly28Ser)
c.114G>A
n.92G>A
c.-392G>A (n.-392G>A)
ClinVar
17g.15999915G>CCA398382207TTC19c.67G>C (p.Gly23Arg)
c.132G>C
c.82G>C (p.Gly28Arg)
c.114G>C
n.92G>C
c.-392G>C (n.-392G>C)
dbSNP
17g.15999915G=CA2249814987TTC19c.67G= (p.Gly23=)
c.132G=
c.82G= (p.Gly28=)
c.114G=
n.92G=
c.-392G= (n.-392G=)
17g.15999915G>TCA398382210TTC19c.67G>T (p.Gly23Cys)
c.132G>T
c.82G>T (p.Gly28Cys)
c.114G>T
n.92G>T
c.-392G>T (n.-392G>T)
17g.15999916G>ACA398382220TTC19c.68G>A (p.Gly23Asp)
c.133G>A
c.83G>A (p.Gly28Asp)
c.115G>A
n.93G>A
c.-391G>A (n.-391G>A)
dbSNP gnomAD v4
17g.15999916G>CCA398382217TTC19c.68G>C (p.Gly23Ala)
c.133G>C
c.83G>C (p.Gly28Ala)
c.115G>C
n.93G>C
c.-391G>C (n.-391G>C)
17g.15999916G=CA2249814988TTC19c.68G= (p.Gly23=)
c.133G=
c.83G= (p.Gly28=)
c.115G=
n.93G=
c.-391G= (n.-391G=)
17g.15999916G>TCA398382214TTC19c.68G>T (p.Gly23Val)
c.133G>T
c.83G>T (p.Gly28Val)
c.115G>T
n.93G>T
c.-391G>T (n.-391G>T)
gnomAD v4
17g.15999917C>ACA498414331TTC19c.69C>A (p.Gly23=)
c.134C>A
c.84C>A (p.Gly28=)
c.116C>A
n.94C>A
c.-390C>A (n.-390C>A)
gnomAD v4
17g.15999917C=CA2249814989TTC19c.69C= (p.Gly23=)
c.134C=
c.84C= (p.Gly28=)
c.116C=
n.94C=
c.-390C= (n.-390C=)
17g.15999917C>GCA498414332TTC19c.69C>G (p.Gly23=)
c.134C>G
c.84C>G (p.Gly28=)
c.116C>G
n.94C>G
c.-390C>G (n.-390C>G)
17g.15999917C>TCA288187838TTC19c.69C>T (p.Gly23=)
c.134C>T
c.84C>T (p.Gly28=)
c.116C>T
n.94C>T
c.-390C>T (n.-390C>T)
dbSNP gnomAD v4
17g.15999918T>ACA398382226TTC19c.70T>A (p.Cys24Ser)
c.135T>A
c.85T>A (p.Cys29Ser)
c.117T>A
n.95T>A
c.-389T>A (n.-389T>A)
17g.15999918T>CCA398382232TTC19c.70T>C (p.Cys24Arg)
c.135T>C
c.85T>C (p.Cys29Arg)
c.117T>C
n.95T>C
c.-389T>C (n.-389T>C)
dbSNP gnomAD v4
17g.15999918T>GCA398382229TTC19c.70T>G (p.Cys24Gly)
c.135T>G
c.85T>G (p.Cys29Gly)
c.117T>G
n.95T>G
c.-389T>G (n.-389T>G)
17g.15999918T=CA2249814990TTC19c.70T= (p.Cys24=)
c.135T=
c.85T= (p.Cys29=)
c.117T=
n.95T=
c.-389T= (n.-389T=)
17g.15999919G>ACA398382236TTC19c.71G>A (p.Cys24Tyr)
c.136G>A
c.86G>A (p.Cys29Tyr)
c.118G>A
n.96G>A
c.-388G>A (n.-388G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.15999919G>CCA398382238TTC19c.71G>C (p.Cys24Ser)
c.136G>C
c.86G>C (p.Cys29Ser)
c.118G>C
n.96G>C
c.-388G>C (n.-388G>C)
17g.15999919G=CA2249814991TTC19c.71G= (p.Cys24=)
c.136G=
c.86G= (p.Cys29=)
c.118G=
n.96G=
c.-388G= (n.-388G=)
17g.15999919G>TCA398382237TTC19c.71G>T (p.Cys24Phe)
c.136G>T
c.86G>T (p.Cys29Phe)
c.118G>T
n.96G>T
c.-388G>T (n.-388G>T)
gnomAD v4
17g.15999920C>ACA398382239TTC19c.72C>A (p.Cys24Ter)
c.137C>A
c.87C>A (p.Cys29Ter)
c.119C>A
n.97C>A
c.-387C>A (n.-387C>A)
gnomAD v4
17g.15999920C=CA2249814992TTC19c.72C= (p.Cys24=)
c.137C=
c.87C= (p.Cys29=)
c.119C=
n.97C=
c.-387C= (n.-387C=)
17g.15999920C>GCA398382240TTC19c.72C>G (p.Cys24Trp)
c.137C>G
c.87C>G (p.Cys29Trp)
c.119C>G
n.97C>G
c.-387C>G (n.-387C>G)
17g.15999920C>TCA498414333TTC19c.72C>T (p.Cys24=)
c.137C>T
c.87C>T (p.Cys29=)
c.119C>T
n.97C>T
c.-387C>T (n.-387C>T)
dbSNP gnomAD v3 gnomAD v4
17g.15999921T>ACA398382243TTC19c.73T>A (p.Ser25Thr)
c.138T>A
c.88T>A (p.Ser30Thr)
c.120T>A
n.98T>A
c.-386T>A (n.-386T>A)
17g.15999921T>CCA398382244TTC19c.73T>C (p.Ser25Pro)
c.138T>C
c.88T>C (p.Ser30Pro)
c.120T>C
n.98T>C
c.-386T>C (n.-386T>C)
dbSNP gnomAD v4
17g.15999921T>GCA398382245TTC19c.73T>G (p.Ser25Ala)
c.138T>G
c.88T>G (p.Ser30Ala)
c.120T>G
n.98T>G
c.-386T>G (n.-386T>G)
dbSNP
17g.15999921T=CA2249814993TTC19c.73T= (p.Ser25=)
c.138T=
c.88T= (p.Ser30=)
c.120T=
n.98T=
c.-386T= (n.-386T=)
17g.15999921_15999945delCA2636259689TTC19c.73_97del (p.Ser25GlnfsTer?)
c.138_162del
c.88_112del (p.Ser30GlnfsTer?)
c.120_144del
n.98_122del
c.-386_-362del (n.-386_-362del)
gnomAD v4
17g.15999922C>ACA398382246TTC19c.74C>A (p.Ser25Tyr)
c.139C>A
c.89C>A (p.Ser30Tyr)
c.121C>A
n.99C>A
c.-385C>A (n.-385C>A)
gnomAD v4
17g.15999922C>GCA398382247TTC19c.74C>G (p.Ser25Cys)
c.139C>G
c.89C>G (p.Ser30Cys)
c.121C>G
n.99C>G
c.-385C>G (n.-385C>G)
17g.15999922C>TCA398382248TTC19c.74C>T (p.Ser25Phe)
c.139C>T
c.89C>T (p.Ser30Phe)
c.121C>T
n.99C>T
c.-385C>T (n.-385C>T)
gnomAD v4
17g.15999923C>ACA498414334TTC19c.75C>A (p.Ser25=)
c.140C>A
c.90C>A (p.Ser30=)
c.122C>A
n.100C>A
c.-384C>A (n.-384C>A)
dbSNP gnomAD v4
17g.15999923C=CA2249814994TTC19c.75C= (p.Ser25=)
c.140C=
c.90C= (p.Ser30=)
c.122C=
n.100C=
c.-384C= (n.-384C=)
17g.15999923C>GCA498414335TTC19c.75C>G (p.Ser25=)
c.140C>G
c.90C>G (p.Ser30=)
c.122C>G
n.100C>G
c.-384C>G (n.-384C>G)
gnomAD v4
17g.15999923C>TCA498414336TTC19c.75C>T (p.Ser25=)
c.140C>T
c.90C>T (p.Ser30=)
c.122C>T
n.100C>T
c.-384C>T (n.-384C>T)
gnomAD v4

Number of alleles fetched