Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.171847_181556delCA916083461 ClinVar
16g.172001_181401delCA916083462 ClinVar
16g.177149_177753delinsAAGTAGACA915940715
16g.177286C>ACA393995750HBA1c.304C>A (p.Leu102Ile)
c.208C>A (p.Leu70Ile)
n.440C>A
16g.177286C>GCA393995751HBA1c.304C>G (p.Leu102Val)
c.208C>G (p.Leu70Val)
n.440C>G
 gnomAD v4
16g.177286C>TCA492994372HBA1c.304C>T (p.Leu102=)
c.208C>T (p.Leu70=)
n.440C>T
 gnomAD v4
16g.177287T>ACA393995754HBA1c.305T>A (p.Leu102Gln)
c.209T>A (p.Leu70Gln)
n.441T>A
16g.177287T>CCA393995755HBA1c.305T>C (p.Leu102Pro)
c.209T>C (p.Leu70Pro)
n.441T>C
16g.177287T>GCA393995756HBA1c.305T>G (p.Leu102Arg)
c.209T>G (p.Leu70Arg)
n.441T>G
16g.177287_177288delCA2630740071HBA1c.305_306del (p.Leu102GlnfsTer?)
c.209_210del (p.Leu70GlnfsTer?)
n.441_442del
 gnomAD v4
16g.177288A>CCA492994373HBA1c.306A>C (p.Leu102=)
c.210A>C (p.Leu70=)
n.442A>C
16g.177288A>GCA492994374HBA1c.306A>G (p.Leu102=)
c.210A>G (p.Leu70=)
n.442A>G
16g.177288A>TCA492994375HBA1c.306A>T (p.Leu102=)
c.210A>T (p.Leu70=)
n.442A>T
16g.177289A>CCA393995758HBA1c.307A>C (p.Ser103Arg)
c.211A>C (p.Ser71Arg)
n.443A>C
16g.177289A>GCA393995760HBA1c.307A>G (p.Ser103Gly)
c.211A>G (p.Ser71Gly)
n.443A>G
16g.177289A>TCA393995762HBA1c.307A>T (p.Ser103Cys)
c.211A>T (p.Ser71Cys)
n.443A>T
16g.177290G>ACA393995765HBA1c.308G>A (p.Ser103Asn)
c.212G>A (p.Ser71Asn)
n.444G>A
16g.177290G>CCA393995767HBA1c.308G>C (p.Ser103Thr)
c.212G>C (p.Ser71Thr)
n.444G>C
 dbSNP gnomAD v2 gnomAD v4
16g.177290G=CA2200883234HBA1c.308G= (p.Ser103=)
c.212G= (p.Ser71=)
n.444G=
16g.177290G>TCA393995764HBA1c.308G>T (p.Ser103Ile)
c.212G>T (p.Ser71Ile)
n.444G>T
16g.177291C>ACA276417106HBA1c.309C>A (p.Ser103Arg)
c.213C>A (p.Ser71Arg)
n.445C>A
 ClinVar dbSNP
16g.177291C=CA2200883235HBA1c.309C= (p.Ser103=)
c.213C= (p.Ser71=)
n.445C=
16g.177291C>GCA393995769HBA1c.309C>G (p.Ser103Arg)
c.213C>G (p.Ser71Arg)
n.445C>G
16g.177291C>TCA492994376HBA1c.309C>T (p.Ser103=)
c.213C>T (p.Ser71=)
n.445C>T
 dbSNP gnomAD v2 gnomAD v4
16g.177291_177292insTCCTTCA2630740077HBA1c.309_310insTCCTT (p.His104SerfsTer7)
c.213_214insTCCTT (p.His72SerfsTer7)
n.445_446insTCCTT
 gnomAD v4
16g.177292C>ACA393995772HBA1c.310C>A (p.His104Asn)
c.214C>A (p.His72Asn)
n.446C>A
16g.177292C=CA2200883236HBA1c.310C= (p.His104=)
c.214C= (p.His72=)
n.446C=
16g.177292C>GCA393995774HBA1c.310C>G (p.His104Asp)
c.214C>G (p.His72Asp)
n.446C>G
16g.177292C>TCA125999HBA1c.310C>T (p.His104Tyr)
c.214C>T (p.His72Tyr)
n.446C>T
 ClinVar dbSNP
16g.177293A=CA2200883238HBA1c.311A= (p.His104=)
c.215A= (p.His72=)
n.447A=
16g.177293A>CCA393995776HBA1c.311A>C (p.His104Pro)
c.215A>C (p.His72Pro)
n.447A>C
 dbSNP gnomAD v2 gnomAD v4
16g.177293A>GCA125705HBA1c.311A>G (p.His104Arg)
c.215A>G (p.His72Arg)
n.447A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.177293A>TCA393995777HBA1c.311A>T (p.His104Leu)
c.215A>T (p.His72Leu)
n.447A>T
16g.177293_177309delinsACTGCCTGCTGGTGACCCA2200883237HBA1c.311_327delinsACTGCCTGCTGGTGACC (p.His104=)
c.215_231delinsACTGCCTGCTGGTGACC (p.His72=)
n.447_463delinsACTGCCTGCTGGTGACC
16g.177294C>ACA393995779HBA1c.312C>A (p.His104Gln)
c.216C>A (p.His72Gln)
n.448C>A
16g.177294C=CA2200883239HBA1c.312C= (p.His104=)
c.216C= (p.His72=)
n.448C=
16g.177294C>GCA393995781HBA1c.312C>G (p.His104Gln)
c.216C>G (p.His72Gln)
n.448C>G
 dbSNP gnomAD v4
16g.177294C>TCA492994377HBA1c.312C>T (p.His104=)
c.216C>T (p.His72=)
n.448C>T
16g.177297_177312delCA620304282HBA1c.315_330del (p.Cys105TrpfsTer24)
c.219_234del (p.Cys73TrpfsTer24)
n.451_466del
 dbSNP gnomAD v2 gnomAD v4
16g.177295T>ACA126023HBA1c.313T>A (p.Cys105Ser)
c.217T>A (p.Cys73Ser)
n.449T>A
 ClinVar dbSNP gnomAD v4
16g.177295T>CCA393995783HBA1c.313T>C (p.Cys105Arg)
c.217T>C (p.Cys73Arg)
n.449T>C
16g.177295T>GCA393995785HBA1c.313T>G (p.Cys105Gly)
c.217T>G (p.Cys73Gly)
n.449T>G
16g.177295T=CA2200883240HBA1c.313T= (p.Cys105=)
c.217T= (p.Cys73=)
n.449T=
16g.177296G>ACA393995791HBA1c.314G>A (p.Cys105Tyr)
c.218G>A (p.Cys73Tyr)
n.450G>A
 dbSNP gnomAD v3 gnomAD v4
16g.177296G>CCA393995787HBA1c.314G>C (p.Cys105Ser)
c.218G>C (p.Cys73Ser)
n.450G>C
16g.177296G=CA2200883241HBA1c.314G= (p.Cys105=)
c.218G= (p.Cys73=)
n.450G=
16g.177296G>TCA393995789HBA1c.314G>T (p.Cys105Phe)
c.218G>T (p.Cys73Phe)
n.450G>T
16g.177297C>ACA393995792HBA1c.315C>A (p.Cys105Ter)
c.219C>A (p.Cys73Ter)
n.451C>A
16g.177297C=CA2200883242HBA1c.315C= (p.Cys105=)
c.219C= (p.Cys73=)
n.451C=
16g.177297C>GCA276417115HBA1c.315C>G (p.Cys105Trp)
c.219C>G (p.Cys73Trp)
n.451C>G
 dbSNP gnomAD v4
16g.177297C>TCA492994378HBA1c.315C>T (p.Cys105=)
c.219C>T (p.Cys73=)
n.451C>T
 gnomAD v4
16g.177298C>ACA393995794HBA1c.316C>A (p.Leu106Met)
c.220C>A (p.Leu74Met)
n.452C>A
16g.177298C>GCA393995796HBA1c.316C>G (p.Leu106Val)
c.220C>G (p.Leu74Val)
n.452C>G
 gnomAD v4
16g.177298C>TCA492994379HBA1c.316C>T (p.Leu106=)
c.220C>T (p.Leu74=)
n.452C>T
16g.177299T>ACA393995797HBA1c.317T>A (p.Leu106Gln)
c.221T>A (p.Leu74Gln)
n.453T>A
16g.177299T>CCA393995799HBA1c.317T>C (p.Leu106Pro)
c.221T>C (p.Leu74Pro)
n.453T>C
 gnomAD v4
16g.177299T>GCA393995800HBA1c.317T>G (p.Leu106Arg)
c.221T>G (p.Leu74Arg)
n.453T>G
16g.177300G>ACA492994380HBA1c.318G>A (p.Leu106=)
c.222G>A (p.Leu74=)
n.454G>A
 dbSNP
16g.177300G>CCA492994381HBA1c.318G>C (p.Leu106=)
c.222G>C (p.Leu74=)
n.454G>C
 dbSNP
16g.177300G=CA2200883243HBA1c.318G= (p.Leu106=)
c.222G= (p.Leu74=)
n.454G=
16g.177300G>TCA492994382HBA1c.318G>T (p.Leu106=)
c.222G>T (p.Leu74=)
n.454G>T
16g.177301C>ACA393995802HBA1c.319C>A (p.Leu107Met)
c.223C>A (p.Leu75Met)
n.455C>A
16g.177301C=CA2200883244HBA1c.319C= (p.Leu107=)
c.223C= (p.Leu75=)
n.455C=
16g.177301C>GCA393995804HBA1c.319C>G (p.Leu107Val)
c.223C>G (p.Leu75Val)
n.455C>G
16g.177301C>TCA492994383HBA1c.319C>T (p.Leu107=)
c.223C>T (p.Leu75=)
n.455C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.177302T>ACA393995806HBA1c.320T>A (p.Leu107Gln)
c.224T>A (p.Leu75Gln)
n.456T>A
16g.177302T>CCA276417116HBA1c.320T>C (p.Leu107Pro)
c.224T>C (p.Leu75Pro)
n.456T>C
 dbSNP
16g.177302T>GCA393995808HBA1c.320T>G (p.Leu107Arg)
c.224T>G (p.Leu75Arg)
n.456T>G
 gnomAD v4
16g.177302T=CA2200883245HBA1c.320T= (p.Leu107=)
c.224T= (p.Leu75=)
n.456T=
16g.177303G>ACA492994384HBA1c.321G>A (p.Leu107=)
c.225G>A (p.Leu75=)
n.457G>A
16g.177303G>CCA492994385HBA1c.321G>C (p.Leu107=)
c.225G>C (p.Leu75=)
n.457G>C
16g.177303G>TCA492994386HBA1c.321G>T (p.Leu107=)
c.225G>T (p.Leu75=)
n.457G>T
16g.177304G>ACA393995812HBA1c.322G>A (p.Val108Met)
c.226G>A (p.Val76Met)
n.458G>A
16g.177304G>CCA393995813HBA1c.322G>C (p.Val108Leu)
c.226G>C (p.Val76Leu)
n.458G>C
16g.177304G>TCA393995810HBA1c.322G>T (p.Val108Leu)
c.226G>T (p.Val76Leu)
n.458G>T
16g.177305T>ACA393995815HBA1c.323T>A (p.Val108Glu)
c.227T>A (p.Val76Glu)
n.459T>A
16g.177305T>CCA393995817HBA1c.323T>C (p.Val108Ala)
c.227T>C (p.Val76Ala)
n.459T>C
16g.177305T>GCA393995818HBA1c.323T>G (p.Val108Gly)
c.227T>G (p.Val76Gly)
n.459T>G
16g.177306G>ACA7770275HBA1c.324G>A (p.Val108=)
c.228G>A (p.Val76=)
n.460G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177306G>CCA492994387HBA1c.324G>C (p.Val108=)
c.228G>C (p.Val76=)
n.460G>C
16g.177306G=CA2200883246HBA1c.324G= (p.Val108=)
c.228G= (p.Val76=)
n.460G=
16g.177306G>TCA492994388HBA1c.324G>T (p.Val108=)
c.228G>T (p.Val76=)
n.460G>T
16g.177307A>CCA393995821HBA1c.325A>C (p.Thr109Pro)
c.229A>C (p.Thr77Pro)
n.461A>C
 dbSNP
16g.177307A>GCA393995823HBA1c.325A>G (p.Thr109Ala)
c.229A>G (p.Thr77Ala)
n.461A>G
 dbSNP
16g.177307A>TCA393995824HBA1c.325A>T (p.Thr109Ser)
c.229A>T (p.Thr77Ser)
n.461A>T
16g.177307_177308delinsACCA2200883247HBA1c.325_326delinsAC (p.Thr109=)
c.229_230delinsAC (p.Thr77=)
n.461_462delinsAC
16g.177308C>ACA7770277HBA1c.326C>A (p.Thr109Asn)
c.230C>A (p.Thr77Asn)
n.462C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177308C=CA2200883248HBA1c.326C= (p.Thr109=)
c.230C= (p.Thr77=)
n.462C=
16g.177308C>GCA393995826HBA1c.326C>G (p.Thr109Ser)
c.230C>G (p.Thr77Ser)
n.462C>G
16g.177308C>TCA393995828HBA1c.326C>T (p.Thr109Ile)
c.230C>T (p.Thr77Ile)
n.462C>T
 ClinVar dbSNP gnomAD v4
16g.177310delCA7770276HBA1c.328del (p.Leu110TrpfsTer24)
c.232del (p.Leu78TrpfsTer24)
n.464del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.177309C>ACA492994389HBA1c.327C>A (p.Thr109=)
c.231C>A (p.Thr77=)
n.463C>A
16g.177309C>GCA492994390HBA1c.327C>G (p.Thr109=)
c.231C>G (p.Thr77=)
n.463C>G
16g.177309C>TCA492994391HBA1c.327C>T (p.Thr109=)
c.231C>T (p.Thr77=)
n.463C>T
 gnomAD v4
16g.177310C>ACA393995831HBA1c.328C>A (p.Leu110Met)
c.232C>A (p.Leu78Met)
n.464C>A
 COSMIC
16g.177310C=CA2200883249HBA1c.328C= (p.Leu110=)
c.232C= (p.Leu78=)
n.464C=
16g.177310C>GCA393995833HBA1c.328C>G (p.Leu110Val)
c.232C>G (p.Leu78Val)
n.464C>G
16g.177310C>TCA492994392HBA1c.328C>T (p.Leu110=)
c.232C>T (p.Leu78=)
n.464C>T
 dbSNP
16g.177311T>ACA393995838HBA1c.329T>A (p.Leu110Gln)
c.233T>A (p.Leu78Gln)
n.465T>A
16g.177311T>CCA393995836HBA1c.329T>C (p.Leu110Pro)
c.233T>C (p.Leu78Pro)
n.465T>C
 gnomAD v4
16g.177311T>GCA393995835HBA1c.329T>G (p.Leu110Arg)
c.233T>G (p.Leu78Arg)
n.465T>G
 dbSNP gnomAD v2 gnomAD v4
16g.177311T=CA2200883250HBA1c.329T= (p.Leu110=)
c.233T= (p.Leu78=)
n.465T=
16g.177312G>ACA492994393HBA1c.330G>A (p.Leu110=)
c.234G>A (p.Leu78=)
n.466G>A
 gnomAD v4
16g.177312G>CCA492994394HBA1c.330G>C (p.Leu110=)
c.234G>C (p.Leu78=)
n.466G>C
16g.177312G>TCA492994395HBA1c.330G>T (p.Leu110=)
c.234G>T (p.Leu78=)
n.466G>T
16g.177313G>ACA125931HBA1c.331G>A (p.Ala111Thr)
c.235G>A (p.Ala79Thr)
n.467G>A
 ClinVar dbSNP gnomAD v2
16g.177313G>CCA393995840HBA1c.331G>C (p.Ala111Pro)
c.235G>C (p.Ala79Pro)
n.467G>C
16g.177313G=CA2200883251HBA1c.331G= (p.Ala111=)
c.235G= (p.Ala79=)
n.467G=
16g.177313G>TCA393995841HBA1c.331G>T (p.Ala111Ser)
c.235G>T (p.Ala79Ser)
n.467G>T
16g.177313_177326delinsGCCGCCCACCTCCCCA2200883252HBA1c.331_344delinsGCCGCCCACCTCCC (p.Ala111=)
c.235_248delinsGCCGCCCACCTCCC (p.Ala79=)
n.467_480delinsGCCGCCCACCTCCC
16g.177314C>ACA125861HBA1c.332C>A (p.Ala111Asp)
c.236C>A (p.Ala79Asp)
n.468C>A
 ClinVar dbSNP gnomAD v4
16g.177314C=CA2200883253HBA1c.332C= (p.Ala111=)
c.236C= (p.Ala79=)
n.468C=
16g.177314C>GCA393995844HBA1c.332C>G (p.Ala111Gly)
c.236C>G (p.Ala79Gly)
n.468C>G
16g.177314C>TCA7770278HBA1c.332C>T (p.Ala111Val)
c.236C>T (p.Ala79Val)
n.468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177315_177327delCA276417128HBA1c.333_345del (p.Ala112ProfsTer18)
c.237_249del (p.Ala80ProfsTer18)
n.469_481del
 dbSNP
16g.177315C>ACA492994396HBA1c.333C>A (p.Ala111=)
c.237C>A (p.Ala79=)
n.469C>A
16g.177315C>GCA492994397HBA1c.333C>G (p.Ala111=)
c.237C>G (p.Ala79=)
n.469C>G
16g.177315C>TCA492994398HBA1c.333C>T (p.Ala111=)
c.237C>T (p.Ala79=)
n.469C>T
16g.177316G>ACA125985HBA1c.334G>A (p.Ala112Thr)
c.238G>A (p.Ala80Thr)
n.470G>A
 ClinVar dbSNP gnomAD v4
16g.177316G>CCA393995847HBA1c.334G>C (p.Ala112Pro)
c.238G>C (p.Ala80Pro)
n.470G>C
16g.177316G=CA2200883254HBA1c.334G= (p.Ala112=)
c.238G= (p.Ala80=)
n.470G=
16g.177316G>TCA393995849HBA1c.334G>T (p.Ala112Ser)
c.238G>T (p.Ala80Ser)
n.470G>T
 dbSNP gnomAD v3 gnomAD v4
16g.177317C>ACA393995851HBA1c.335C>A (p.Ala112Asp)
c.239C>A (p.Ala80Asp)
n.471C>A
16g.177317C=CA2200883255HBA1c.335C= (p.Ala112=)
c.239C= (p.Ala80=)
n.471C=
16g.177317C>GCA393995853HBA1c.335C>G (p.Ala112Gly)
c.239C>G (p.Ala80Gly)
n.471C>G
16g.177317C>TCA393995855HBA1c.335C>T (p.Ala112Val)
c.239C>T (p.Ala80Val)
n.471C>T
 ClinVar dbSNP
16g.177318C>ACA492994399HBA1c.336C>A (p.Ala112=)
c.240C>A (p.Ala80=)
n.472C>A
16g.177318C=CA2200883256HBA1c.336C= (p.Ala112=)
c.240C= (p.Ala80=)
n.472C=
16g.177318C>GCA7770279HBA1c.336C>G (p.Ala112=)
c.240C>G (p.Ala80=)
n.472C>G
 dbSNP ExAC
16g.177318C>TCA492994400HBA1c.336C>T (p.Ala112=)
c.240C>T (p.Ala80=)
n.472C>T
16g.177319C>ACA393995859HBA1c.337C>A (p.His113Asn)
c.241C>A (p.His81Asn)
n.473C>A
16g.177319C=CA2200883257HBA1c.337C= (p.His113=)
c.241C= (p.His81=)
n.473C=
16g.177319C>GCA125757HBA1c.337C>G (p.His113Asp)
c.241C>G (p.His81Asp)
n.473C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177319C>TCA393995857HBA1c.337C>T (p.His113Tyr)
c.241C>T (p.His81Tyr)
n.473C>T
16g.177319_177333dupCA1139664216HBA1c.337_351dup (p.Glu117_Phe118insHisLeuProAlaGlu)
c.241_255dup (p.Glu85_Phe86insHisLeuProAlaGlu)
n.473_487dup
 ClinVar dbSNP
16g.177320A=CA2200883258HBA1c.338A= (p.His113=)
c.242A= (p.His81=)
n.474A=
16g.177320A>CCA393995861HBA1c.338A>C (p.His113Pro)
c.242A>C (p.His81Pro)
n.474A>C
 dbSNP COSMIC
16g.177320A>GCA125897HBA1c.338A>G (p.His113Arg)
c.242A>G (p.His81Arg)
n.474A>G
 ClinVar dbSNP gnomAD v4
16g.177320A>TCA393995863HBA1c.338A>T (p.His113Leu)
c.242A>T (p.His81Leu)
n.474A>T
16g.177321C>ACA276417141HBA1c.339C>A (p.His113Gln)
c.243C>A (p.His81Gln)
n.475C>A
 dbSNP
16g.177321C=CA2200883259HBA1c.339C= (p.His113=)
c.243C= (p.His81=)
n.475C=
16g.177321C>GCA393995868HBA1c.339C>G (p.His113Gln)
c.243C>G (p.His81Gln)
n.475C>G
16g.177321C>TCA492994402HBA1c.339C>T (p.His113=)
c.243C>T (p.His81=)
n.475C>T
 gnomAD v4
16g.177323_177326dupCA2200883260HBA1c.341_344dup (p.Ala116ProfsTer?)
c.245_248dup (p.Ala84ProfsTer?)
n.477_480dup
 dbSNP
16g.177322C>ACA393995869HBA1c.340C>A (p.Leu114Ile)
c.244C>A (p.Leu82Ile)
n.476C>A
16g.177322C>GCA393995870HBA1c.340C>G (p.Leu114Val)
c.244C>G (p.Leu82Val)
n.476C>G
16g.177322C>TCA393995871HBA1c.340C>T (p.Leu114Phe)
c.244C>T (p.Leu82Phe)
n.476C>T
16g.177323T>ACA125915HBA1c.341T>A (p.Leu114His)
c.245T>A (p.Leu82His)
n.477T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177323T>CCA393995872HBA1c.341T>C (p.Leu114Pro)
c.245T>C (p.Leu82Pro)
n.477T>C
16g.177323T>GCA393995873HBA1c.341T>G (p.Leu114Arg)
c.245T>G (p.Leu82Arg)
n.477T>G
16g.177323T=CA2200883261HBA1c.341T= (p.Leu114=)
c.245T= (p.Leu82=)
n.477T=
16g.177323_177324delinsTCCA2200883262HBA1c.341_342delinsTC (p.Leu114=)
c.245_246delinsTC (p.Leu82=)
n.477_478delinsTC
16g.177324C>ACA492994403HBA1c.342C>A (p.Leu114=)
c.246C>A (p.Leu82=)
n.478C>A
16g.177324C>GCA492994404HBA1c.342C>G (p.Leu114=)
c.246C>G (p.Leu82=)
n.478C>G
 gnomAD v4
16g.177324C>TCA492994405HBA1c.342C>T (p.Leu114=)
c.246C>T (p.Leu82=)
n.478C>T
16g.177327delCA620304283HBA1c.345del (p.Ala116ProfsTer18)
c.249del (p.Ala84ProfsTer18)
n.481del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177325C>ACA393995875HBA1c.343C>A (p.Pro115Thr)
c.247C>A (p.Pro83Thr)
n.479C>A
 dbSNP gnomAD v4
16g.177325C=CA2200883264HBA1c.343C= (p.Pro115=)
c.247C= (p.Pro83=)
n.479C=
16g.177325C>GCA276417150HBA1c.343C>G (p.Pro115Ala)
c.247C>G (p.Pro83Ala)
n.479C>G
 dbSNP gnomAD v4
16g.177325C>TCA125963HBA1c.343C>T (p.Pro115Ser)
c.247C>T (p.Pro83Ser)
n.479C>T
 ClinVar dbSNP gnomAD v4 COSMIC
16g.177325_177326delinsCCCA2200883263HBA1c.343_344delinsCC (p.Pro115=)
c.247_248delinsCC (p.Pro83=)
n.479_480delinsCC
16g.177325_177326delinsTTCA276417146HBA1c.343_344delinsTT (p.Pro115Phe)
c.247_248delinsTT (p.Pro83Phe)
n.479_480delinsTT
 dbSNP
16g.177326C>ACA393995879HBA1c.344C>A (p.Pro115His)
c.248C>A (p.Pro83His)
n.480C>A
 gnomAD v4
16g.177326C=CA2200883265HBA1c.344C= (p.Pro115=)
c.248C= (p.Pro83=)
n.480C=
16g.177326C>GCA125699HBA1c.344C>G (p.Pro115Arg)
c.248C>G (p.Pro83Arg)
n.480C>G
 ClinVar dbSNP
16g.177326C>TCA125843HBA1c.344C>T (p.Pro115Leu)
c.248C>T (p.Pro83Leu)
n.480C>T
 ClinVar dbSNP gnomAD v4
16g.177327C>ACA492994406HBA1c.345C>A (p.Pro115=)
c.249C>A (p.Pro83=)
n.481C>A
 gnomAD v4
16g.177327C=CA2200883266HBA1c.345C= (p.Pro115=)
c.249C= (p.Pro83=)
n.481C=
16g.177327C>GCA492994407HBA1c.345C>G (p.Pro115=)
c.249C>G (p.Pro83=)
n.481C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177327C>TCA7770280HBA1c.345C>T (p.Pro115=)
c.249C>T (p.Pro83=)
n.481C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.177328G>ACA393995882HBA1c.346G>A (p.Ala116Thr)
c.250G>A (p.Ala84Thr)
n.482G>A
16g.177328G>CCA393995883HBA1c.346G>C (p.Ala116Pro)
c.250G>C (p.Ala84Pro)
n.482G>C
16g.177328G=CA2200883267HBA1c.346G= (p.Ala116=)
c.250G= (p.Ala84=)
n.482G=
16g.177328G>TCA393995884HBA1c.346G>T (p.Ala116Ser)
c.250G>T (p.Ala84Ser)
n.482G>T
16g.177329C>ACA125791HBA1c.347C>A (p.Ala116Asp)
c.251C>A (p.Ala84Asp)
n.483C>A
 ClinVar dbSNP
16g.177329C=CA2200883268HBA1c.347C= (p.Ala116=)
c.251C= (p.Ala84=)
n.483C=
16g.177329C>GCA393995886HBA1c.347C>G (p.Ala116Gly)
c.251C>G (p.Ala84Gly)
n.483C>G
16g.177329C>TCA276417160HBA1c.347C>T (p.Ala116Val)
c.251C>T (p.Ala84Val)
n.483C>T
 dbSNP
16g.177331_177339dupCA973584886HBA1c.349_357dup (p.Thr119_Pro120insGluPheThr)
c.253_261dup (p.Thr87_Pro88insGluPheThr)
n.485_493dup
 dbSNP gnomAD v3 gnomAD v4
16g.177330C>ACA492994408HBA1c.348C>A (p.Ala116=)
c.252C>A (p.Ala84=)
n.484C>A
 gnomAD v4
16g.177330C>GCA492994409HBA1c.348C>G (p.Ala116=)
c.252C>G (p.Ala84=)
n.484C>G
 gnomAD v4
16g.177330C>TCA492994410HBA1c.348C>T (p.Ala116=)
c.252C>T (p.Ala84=)
n.484C>T
 gnomAD v4
16g.177331G>ACA125847HBA1c.349G>A (p.Glu117Lys)
c.253G>A (p.Glu85Lys)
n.485G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177331G>CCA125853HBA1c.349G>C (p.Glu117Gln)
c.253G>C (p.Glu85Gln)
n.485G>C
 ClinVar dbSNP
16g.177331G=CA2200883269HBA1c.349G= (p.Glu117=)
c.253G= (p.Glu85=)
n.485G=
16g.177331G>TCA393995889HBA1c.349G>T (p.Glu117Ter)
c.253G>T (p.Glu85Ter)
n.485G>T
16g.177332A=CA2200883270HBA1c.350A= (p.Glu117=)
c.254A= (p.Glu85=)
n.486A=
16g.177332A>CCA125921HBA1c.350A>C (p.Glu117Ala)
c.254A>C (p.Glu85Ala)
n.486A>C
 ClinVar dbSNP ExAC gnomAD v2
16g.177332A>GCA393995892HBA1c.350A>G (p.Glu117Gly)
c.254A>G (p.Glu85Gly)
n.486A>G
16g.177332A>TCA393995893HBA1c.350A>T (p.Glu117Val)
c.254A>T (p.Glu85Val)
n.486A>T
16g.177333G>ACA492994413HBA1c.351G>A (p.Glu117=)
c.255G>A (p.Glu85=)
n.487G>A
16g.177333G>CCA393995897HBA1c.351G>C (p.Glu117Asp)
c.255G>C (p.Glu85Asp)
n.487G>C
 gnomAD v4
16g.177333G>TCA393995895HBA1c.351G>T (p.Glu117Asp)
c.255G>T (p.Glu85Asp)
n.487G>T
16g.177334T>ACA393995899HBA1c.352T>A (p.Phe118Ile)
c.256T>A (p.Phe86Ile)
n.488T>A
16g.177334T>CCA393995900HBA1c.352T>C (p.Phe118Leu)
c.256T>C (p.Phe86Leu)
n.488T>C
 dbSNP gnomAD v4
16g.177334T>GCA393995902HBA1c.352T>G (p.Phe118Val)
c.256T>G (p.Phe86Val)
n.488T>G
16g.177334T=CA2200883271HBA1c.352T= (p.Phe118=)
c.256T= (p.Phe86=)
n.488T=
16g.177335T>ACA393995904HBA1c.353T>A (p.Phe118Tyr)
c.257T>A (p.Phe86Tyr)
n.489T>A
 gnomAD v4
16g.177335T>CCA393995905HBA1c.353T>C (p.Phe118Ser)
c.257T>C (p.Phe86Ser)
n.489T>C
16g.177335T>GCA393995907HBA1c.353T>G (p.Phe118Cys)
c.257T>G (p.Phe86Cys)
n.489T>G
16g.177335_177337dupCA7770281HBA1c.353_355dup (p.Phe118_Thr119insIle)
c.257_259dup (p.Phe86_Thr87insIle)
n.489_491dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177336C>ACA393995911HBA1c.354C>A (p.Phe118Leu)
c.258C>A (p.Phe86Leu)
n.490C>A
16g.177336C>GCA393995909HBA1c.354C>G (p.Phe118Leu)
c.258C>G (p.Phe86Leu)
n.490C>G
16g.177336C>TCA492994417HBA1c.354C>T (p.Phe118=)
c.258C>T (p.Phe86=)
n.490C>T
16g.177337A=CA2200883272HBA1c.355A= (p.Thr119=)
c.259A= (p.Thr87=)
n.491A=
16g.177337A>CCA393995912HBA1c.355A>C (p.Thr119Pro)
c.259A>C (p.Thr87Pro)
n.491A>C
16g.177337A>GCA393995913HBA1c.355A>G (p.Thr119Ala)
c.259A>G (p.Thr87Ala)
n.491A>G
16g.177337A>TCA276417174HBA1c.355A>T (p.Thr119Ser)
c.259A>T (p.Thr87Ser)
n.491A>T
 dbSNP
16g.177338C>ACA7770282HBA1c.356C>A (p.Thr119Asn)
c.260C>A (p.Thr87Asn)
n.492C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.177338C=CA2200883273HBA1c.356C= (p.Thr119=)
c.260C= (p.Thr87=)
n.492C=
16g.177338C>GCA393995914HBA1c.356C>G (p.Thr119Ser)
c.260C>G (p.Thr87Ser)
n.492C>G
16g.177338C>TCA393995916HBA1c.356C>T (p.Thr119Ile)
c.260C>T (p.Thr87Ile)
n.492C>T
 dbSNP gnomAD v3 gnomAD v4
16g.177341delCA2630735991HBA1c.359del (p.Pro120LeufsTer14)
c.263del (p.Pro88LeufsTer14)
n.495del
 gnomAD v4
16g.177339C>ACA492994420HBA1c.357C>A (p.Thr119=)
c.261C>A (p.Thr87=)
n.493C>A
16g.177339C>GCA492994421HBA1c.357C>G (p.Thr119=)
c.261C>G (p.Thr87=)
n.493C>G
16g.177339C>TCA492994423HBA1c.357C>T (p.Thr119=)
c.261C>T (p.Thr87=)
n.493C>T
 gnomAD v4
16g.177340_177344delCA2573054151HBA1c.358_362del (p.Pro120GlyfsTer?)
c.262_266del (p.Pro88GlyfsTer?)
n.494_498del
 ClinVar dbSNP
16g.177339_177340insTCACA2695221236HBA1c.357_358insTCA (p.Thr119_Pro120insSer)
c.261_262insTCA (p.Thr87_Pro88insSer)
n.493_494insTCA
16g.177340C>ACA393995918HBA1c.358C>A (p.Pro120Thr)
c.262C>A (p.Pro88Thr)
n.494C>A
16g.177340C=CA2200883274HBA1c.358C= (p.Pro120=)
c.262C= (p.Pro88=)
n.494C=
16g.177340C>GCA393995920HBA1c.358C>G (p.Pro120Ala)
c.262C>G (p.Pro88Ala)
n.494C>G
16g.177340C>TCA7770283HBA1c.358C>T (p.Pro120Ser)
c.262C>T (p.Pro88Ser)
n.494C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177341C>ACA393995922HBA1c.359C>A (p.Pro120His)
c.263C>A (p.Pro88His)
n.495C>A
16g.177341C=CA2200883275HBA1c.359C= (p.Pro120=)
c.263C= (p.Pro88=)
n.495C=
16g.177341C>GCA393995923HBA1c.359C>G (p.Pro120Arg)
c.263C>G (p.Pro88Arg)
n.495C>G
 gnomAD v4
16g.177341C>TCA7770284HBA1c.359C>T (p.Pro120Leu)
c.263C>T (p.Pro88Leu)
n.495C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177342T>ACA492994424HBA1c.360T>A (p.Pro120=)
c.264T>A (p.Pro88=)
n.496T>A
16g.177342T>CCA492994425HBA1c.360T>C (p.Pro120=)
c.264T>C (p.Pro88=)
n.496T>C
 COSMIC
16g.177342T>GCA492994426HBA1c.360T>G (p.Pro120=)
c.264T>G (p.Pro88=)
n.496T>G
16g.177343G>ACA393995926HBA1c.361G>A (p.Ala121Thr)
c.265G>A (p.Ala89Thr)
n.497G>A
16g.177343G>CCA393995927HBA1c.361G>C (p.Ala121Pro)
c.265G>C (p.Ala89Pro)
n.497G>C
16g.177343G>TCA393995929HBA1c.361G>T (p.Ala121Ser)
c.265G>T (p.Ala89Ser)
n.497G>T
16g.177344C>ACA125767HBA1c.362C>A (p.Ala121Glu)
c.266C>A (p.Ala89Glu)
n.498C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177344C=CA2200883276HBA1c.362C= (p.Ala121=)
c.266C= (p.Ala89=)
n.498C=
16g.177344C>GCA393995932HBA1c.362C>G (p.Ala121Gly)
c.266C>G (p.Ala89Gly)
n.498C>G
16g.177344C>TCA393995933HBA1c.362C>T (p.Ala121Val)
c.266C>T (p.Ala89Val)
n.498C>T
 dbSNP gnomAD v3 gnomAD v4
16g.177345G>ACA492994428HBA1c.363G>A (p.Ala121=)
c.267G>A (p.Ala89=)
n.499G>A
 gnomAD v4
16g.177345G>CCA492994429HBA1c.363G>C (p.Ala121=)
c.267G>C (p.Ala89=)
n.499G>C
16g.177345G=CA2200883277HBA1c.363G= (p.Ala121=)
c.267G= (p.Ala89=)
n.499G=
16g.177345G>TCA492994430HBA1c.363G>T (p.Ala121=)
c.267G>T (p.Ala89=)
n.499G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177346G>ACA125857HBA1c.364G>A (p.Val122Met)
c.268G>A (p.Val90Met)
n.500G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177346G>CCA393995936HBA1c.364G>C (p.Val122Leu)
c.268G>C (p.Val90Leu)
n.500G>C
16g.177346G=CA2200883278HBA1c.364G= (p.Val122=)
c.268G= (p.Val90=)
n.500G=
16g.177346G>TCA393995938HBA1c.364G>T (p.Val122Leu)
c.268G>T (p.Val90Leu)
n.500G>T
16g.177347T>ACA393995939HBA1c.365T>A (p.Val122Glu)
c.269T>A (p.Val90Glu)
n.501T>A
 ClinVar dbSNP
16g.177347T>CCA7770285HBA1c.365T>C (p.Val122Ala)
c.269T>C (p.Val90Ala)
n.501T>C
 dbSNP ExAC gnomAD v4
16g.177347T>GCA393995941HBA1c.365T>G (p.Val122Gly)
c.269T>G (p.Val90Gly)
n.501T>G
16g.177347T=CA2200883279HBA1c.365T= (p.Val122=)
c.269T= (p.Val90=)
n.501T=
16g.177348G>ACA492994432HBA1c.366G>A (p.Val122=)
c.270G>A (p.Val90=)
n.502G>A
16g.177348G>CCA492994435HBA1c.366G>C (p.Val122=)
c.270G>C (p.Val90=)
n.502G>C
16g.177348G>TCA492994434HBA1c.366G>T (p.Val122=)
c.270G>T (p.Val90=)
n.502G>T
16g.177349C>ACA393995943HBA1c.367C>A (p.His123Asn)
c.271C>A (p.His91Asn)
n.503C>A
16g.177349C=CA2200883280HBA1c.367C= (p.His123=)
c.271C= (p.His91=)
n.503C=
16g.177349C>GCA393995944HBA1c.367C>G (p.His123Asp)
c.271C>G (p.His91Asp)
n.503C>G
16g.177349C>TCA276417189HBA1c.367C>T (p.His123Tyr)
c.271C>T (p.His91Tyr)
n.503C>T
 dbSNP
16g.177350A>CCA393995946HBA1c.368A>C (p.His123Pro)
c.272A>C (p.His91Pro)
n.504A>C
16g.177350A>GCA393995948HBA1c.368A>G (p.His123Arg)
c.272A>G (p.His91Arg)
n.504A>G
16g.177350A>TCA393995950HBA1c.368A>T (p.His123Leu)
c.272A>T (p.His91Leu)
n.504A>T
16g.177351C>ACA393995951HBA1c.369C>A (p.His123Gln)
c.273C>A (p.His91Gln)
n.505C>A
16g.177351C>GCA393995952HBA1c.369C>G (p.His123Gln)
c.273C>G (p.His91Gln)
n.505C>G
16g.177351C>TCA492994437HBA1c.369C>T (p.His123=)
c.273C>T (p.His91=)
n.505C>T
16g.177352G>ACA7770286HBA1c.370G>A (p.Ala124Thr)
c.274G>A (p.Ala92Thr)
n.506G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177352G>CCA276417193HBA1c.370G>C (p.Ala124Pro)
c.274G>C (p.Ala92Pro)
n.506G>C
 dbSNP
16g.177352G=CA2200883281HBA1c.370G= (p.Ala124=)
c.274G= (p.Ala92=)
n.506G=
16g.177352G>TCA125977HBA1c.370G>T (p.Ala124Ser)
c.274G>T (p.Ala92Ser)
n.506G>T
 ClinVar dbSNP
16g.177353C>ACA393995956HBA1c.371C>A (p.Ala124Asp)
c.275C>A (p.Ala92Asp)
n.507C>A
 dbSNP gnomAD v3 gnomAD v4
16g.177353C=CA2200883282HBA1c.371C= (p.Ala124=)
c.275C= (p.Ala92=)
n.507C=
16g.177353C>GCA393995957HBA1c.371C>G (p.Ala124Gly)
c.275C>G (p.Ala92Gly)
n.507C>G
16g.177353C>TCA393995959HBA1c.371C>T (p.Ala124Val)
c.275C>T (p.Ala92Val)
n.507C>T
16g.177354C>ACA492994441HBA1c.372C>A (p.Ala124=)
c.276C>A (p.Ala92=)
n.508C>A
16g.177354C>GCA492994442HBA1c.372C>G (p.Ala124=)
c.276C>G (p.Ala92=)
n.508C>G
 gnomAD v4
16g.177354C>TCA492994443HBA1c.372C>T (p.Ala124=)
c.276C>T (p.Ala92=)
n.508C>T
16g.177354_177367delinsCTCCCTGGACAAGTCA2200883283HBA1c.372_385delinsCTCCCTGGACAAGT (p.Ala124=)
c.276_289delinsCTCCCTGGACAAGT (p.Ala92=)
n.508_521delinsCTCCCTGGACAAGT
16g.177355T>ACA393995963HBA1c.373T>A (p.Ser125Thr)
c.277T>A (p.Ser93Thr)
n.509T>A
16g.177355T>CCA393995962HBA1c.373T>C (p.Ser125Pro)
c.277T>C (p.Ser93Pro)
n.509T>C
16g.177355T>GCA393995960HBA1c.373T>G (p.Ser125Ala)
c.277T>G (p.Ser93Ala)
n.509T>G
16g.177358_177370delCA2200883284HBA1c.376_388del (p.Leu126TrpfsTer4)
c.280_292del (p.Leu94TrpfsTer4)
n.512_524del
 dbSNP gnomAD v3 gnomAD v4
16g.177356C>ACA393995964HBA1c.374C>A (p.Ser125Tyr)
c.278C>A (p.Ser93Tyr)
n.510C>A
16g.177356C>GCA393995966HBA1c.374C>G (p.Ser125Cys)
c.278C>G (p.Ser93Cys)
n.510C>G
16g.177356C>TCA393995968HBA1c.374C>T (p.Ser125Phe)
c.278C>T (p.Ser93Phe)
n.510C>T
 gnomAD v4
16g.177357C>ACA492994444HBA1c.375C>A (p.Ser125=)
c.279C>A (p.Ser93=)
n.511C>A
16g.177357C>GCA492994445HBA1c.375C>G (p.Ser125=)
c.279C>G (p.Ser93=)
n.511C>G
 gnomAD v4
16g.177357C>TCA492994446HBA1c.375C>T (p.Ser125=)
c.279C>T (p.Ser93=)
n.511C>T
 gnomAD v4
16g.177358C>ACA393995970HBA1c.376C>A (p.Leu126Met)
c.280C>A (p.Leu94Met)
n.512C>A
16g.177358C>GCA393995971HBA1c.376C>G (p.Leu126Val)
c.280C>G (p.Leu94Val)
n.512C>G
16g.177358C>TCA492994448HBA1c.376C>T (p.Leu126=)
c.280C>T (p.Leu94=)
n.512C>T
16g.177359T>ACA393995973HBA1c.377T>A (p.Leu126Gln)
c.281T>A (p.Leu94Gln)
n.513T>A
16g.177359T>CCA393995974HBA1c.377T>C (p.Leu126Pro)
c.281T>C (p.Leu94Pro)
n.513T>C
 gnomAD v4
16g.177359T>GCA393995976HBA1c.377T>G (p.Leu126Arg)
c.281T>G (p.Leu94Arg)
n.513T>G
16g.177360G>ACA492994451HBA1c.378G>A (p.Leu126=)
c.282G>A (p.Leu94=)
n.514G>A
 dbSNP gnomAD v4
16g.177360G>CCA492994453HBA1c.378G>C (p.Leu126=)
c.282G>C (p.Leu94=)
n.514G>C
 COSMIC
16g.177360G=CA2200883285HBA1c.378G= (p.Leu126=)
c.282G= (p.Leu94=)
n.514G=
16g.177360G>TCA492994452HBA1c.378G>T (p.Leu126=)
c.282G>T (p.Leu94=)
n.514G>T
16g.177361G>ACA276417196HBA1c.379G>A (p.Asp127Asn)
c.283G>A (p.Asp95Asn)
n.515G>A
 dbSNP
16g.177361G>CCA125875HBA1c.379G>C (p.Asp127His)
c.283G>C (p.Asp95His)
n.515G>C
 ClinVar dbSNP
16g.177361G=CA2200883286HBA1c.379G= (p.Asp127=)
c.283G= (p.Asp95=)
n.515G=
16g.177361G>TCA276417201HBA1c.379G>T (p.Asp127Tyr)
c.283G>T (p.Asp95Tyr)
n.515G>T
 ClinVar dbSNP
16g.177362A=CA2200883287HBA1c.380A= (p.Asp127=)
c.284A= (p.Asp95=)
n.516A=
16g.177362A>CCA276417205HBA1c.380A>C (p.Asp127Ala)
c.284A>C (p.Asp95Ala)
n.516A>C
 dbSNP
16g.177362A>GCA276417209HBA1c.380A>G (p.Asp127Gly)
c.284A>G (p.Asp95Gly)
n.516A>G
 dbSNP
16g.177362A>TCA125933HBA1c.380A>T (p.Asp127Val)
c.284A>T (p.Asp95Val)
n.516A>T
 ClinVar dbSNP
16g.177363C>ACA393995978HBA1c.381C>A (p.Asp127Glu)
c.285C>A (p.Asp95Glu)
n.517C>A
16g.177363C=CA2200883288HBA1c.381C= (p.Asp127=)
c.285C= (p.Asp95=)
n.517C=
16g.177363C>GCA276417212HBA1c.381C>G (p.Asp127Glu)
c.285C>G (p.Asp95Glu)
n.517C>G
 dbSNP
16g.177363C>TCA492994455HBA1c.381C>T (p.Asp127=)
c.285C>T (p.Asp95=)
n.517C>T
16g.177364A=CA2200883289HBA1c.382A= (p.Lys128=)
c.286A= (p.Lys96=)
n.518A=
16g.177364A>CCA393995980HBA1c.382A>C (p.Lys128Gln)
c.286A>C (p.Lys96Gln)
n.518A>C
16g.177364A>GCA393995981HBA1c.382A>G (p.Lys128Glu)
c.286A>G (p.Lys96Glu)
n.518A>G
16g.177364A>TCA393995982HBA1c.382A>T (p.Lys128Ter)
c.286A>T (p.Lys96Ter)
n.518A>T
 dbSNP
16g.177365A=CA2200883290HBA1c.383A= (p.Lys128=)
c.287A= (p.Lys96=)
n.519A=
16g.177365A>CCA125891HBA1c.383A>C (p.Lys128Thr)
c.287A>C (p.Lys96Thr)
n.519A>C
 ClinVar dbSNP
16g.177365A>GCA393995984HBA1c.383A>G (p.Lys128Arg)
c.287A>G (p.Lys96Arg)
n.519A>G
16g.177365A>TCA393995983HBA1c.383A>T (p.Lys128Met)
c.287A>T (p.Lys96Met)
n.519A>T
16g.177366G>ACA492994459HBA1c.384G>A (p.Lys128=)
c.288G>A (p.Lys96=)
n.520G>A
16g.177366G>CCA125795HBA1c.384G>C (p.Lys128Asn)
c.288G>C (p.Lys96Asn)
n.520G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.177366G=CA2200883292HBA1c.384G= (p.Lys128=)
c.288G= (p.Lys96=)
n.520G=
16g.177366G>TCA276417219HBA1c.384G>T (p.Lys128Asn)
c.288G>T (p.Lys96Asn)
n.520G>T
 dbSNP
16g.177366_177367delinsGTCA2200883291HBA1c.384_385delinsGT (p.Lys128=)
c.288_289delinsGT (p.Lys96=)
n.520_521delinsGT
16g.177367T>ACA393995985HBA1c.385T>A (p.Phe129Ile)
c.289T>A (p.Phe97Ile)
n.521T>A
16g.177367T>CCA393995986HBA1c.385T>C (p.Phe129Leu)
c.289T>C (p.Phe97Leu)
n.521T>C
16g.177367T>GCA393995987HBA1c.385T>G (p.Phe129Val)
c.289T>G (p.Phe97Val)
n.521T>G
 dbSNP gnomAD v4
16g.177367T=CA2200883293HBA1c.385T= (p.Phe129=)
c.289T= (p.Phe97=)
n.521T=
16g.177368delCA7770287HBA1c.386del (p.Phe129SerfsTer5)
c.290del (p.Phe97SerfsTer5)
n.522del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.177368T>ACA393995988HBA1c.386T>A (p.Phe129Tyr)
c.290T>A (p.Phe97Tyr)
n.522T>A
16g.177368T>CCA393995990HBA1c.386T>C (p.Phe129Ser)
c.290T>C (p.Phe97Ser)
n.522T>C
16g.177368T>GCA393995989HBA1c.386T>G (p.Phe129Cys)
c.290T>G (p.Phe97Cys)
n.522T>G
16g.177369C>ACA393995991HBA1c.387C>A (p.Phe129Leu)
c.291C>A (p.Phe97Leu)
n.523C>A
 gnomAD v4
16g.177369C>GCA393995992HBA1c.387C>G (p.Phe129Leu)
c.291C>G (p.Phe97Leu)
n.523C>G
16g.177369C>TCA492994461HBA1c.387C>T (p.Phe129=)
c.291C>T (p.Phe97=)
n.523C>T
 dbSNP gnomAD v4
16g.177370C>ACA393995993HBA1c.388C>A (p.Leu130Met)
c.292C>A (p.Leu98Met)
n.524C>A
16g.177370C>GCA393995994HBA1c.388C>G (p.Leu130Val)
c.292C>G (p.Leu98Val)
n.524C>G
16g.177370C>TCA492994462HBA1c.388C>T (p.Leu130=)
c.292C>T (p.Leu98=)
n.524C>T
 gnomAD v4
16g.177371T>ACA393995995HBA1c.389T>A (p.Leu130Gln)
c.293T>A (p.Leu98Gln)
n.525T>A
16g.177371T>CCA125979HBA1c.389T>C (p.Leu130Pro)
c.293T>C (p.Leu98Pro)
n.525T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177371T>GCA393995996HBA1c.389T>G (p.Leu130Arg)
c.293T>G (p.Leu98Arg)
n.525T>G
16g.177371T=CA2200883294HBA1c.389T= (p.Leu130=)
c.293T= (p.Leu98=)
n.525T=
16g.177372G>ACA492994464HBA1c.390G>A (p.Leu130=)
c.294G>A (p.Leu98=)
n.526G>A
16g.177372G>CCA492994465HBA1c.390G>C (p.Leu130=)
c.294G>C (p.Leu98=)
n.526G>C
16g.177372G>TCA492994466HBA1c.390G>T (p.Leu130=)
c.294G>T (p.Leu98=)
n.526G>T
16g.177373G>ACA393995997HBA1c.391G>A (p.Ala131Thr)
c.295G>A (p.Ala99Thr)
n.527G>A
 dbSNP
16g.177373G>CCA393995998HBA1c.391G>C (p.Ala131Pro)
c.295G>C (p.Ala99Pro)
n.527G>C
16g.177373G=CA2200883295HBA1c.391G= (p.Ala131=)
c.295G= (p.Ala99=)
n.527G=
16g.177373G>TCA393995999HBA1c.391G>T (p.Ala131Ser)
c.295G>T (p.Ala99Ser)
n.527G>T
16g.177374C>ACA125957HBA1c.392C>A (p.Ala131Asp)
c.296C>A (p.Ala99Asp)
n.528C>A
 ClinVar dbSNP
16g.177374C=CA2200883296HBA1c.392C= (p.Ala131=)
c.296C= (p.Ala99=)
n.528C=
16g.177374C>GCA393996000HBA1c.392C>G (p.Ala131Gly)
c.296C>G (p.Ala99Gly)
n.528C>G
16g.177374C>TCA7770288HBA1c.392C>T (p.Ala131Val)
c.296C>T (p.Ala99Val)
n.528C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.177375T>ACA492994471HBA1c.393T>A (p.Ala131=)
c.297T>A (p.Ala99=)
n.529T>A
16g.177375T>CCA7770289HBA1c.393T>C (p.Ala131=)
c.297T>C (p.Ala99=)
n.529T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.177375T>GCA492994469HBA1c.393T>G (p.Ala131=)
c.297T>G (p.Ala99=)
n.529T>G
16g.177375T=CA2200883297HBA1c.393T= (p.Ala131=)
c.297T= (p.Ala99=)
n.529T=
16g.177376dupCA2695221237HBA1c.394dup (p.Ser132PhefsTer?)
c.298dup (p.Ser100PhefsTer?)
n.530dup
16g.177376T>ACA393996001HBA1c.394T>A (p.Ser132Thr)
c.298T>A (p.Ser100Thr)
n.530T>A
16g.177376T>CCA125939HBA1c.394T>C (p.Ser132Pro)
c.298T>C (p.Ser100Pro)
n.530T>C
 ClinVar dbSNP
16g.177376T>GCA393996002HBA1c.394T>G (p.Ser132Ala)
c.298T>G (p.Ser100Ala)
n.530T>G
 dbSNP gnomAD v4
16g.177376T=CA2200883298HBA1c.394T= (p.Ser132=)
c.298T= (p.Ser100=)
n.530T=
16g.177377C>ACA393996003HBA1c.395C>A (p.Ser132Tyr)
c.299C>A (p.Ser100Tyr)
n.531C>A
16g.177377C=CA2200883299HBA1c.395C= (p.Ser132=)
c.299C= (p.Ser100=)
n.531C=
16g.177377C>GCA393996004HBA1c.395C>G (p.Ser132Cys)
c.299C>G (p.Ser100Cys)
n.531C>G
16g.177377C>TCA276417233HBA1c.395C>T (p.Ser132Phe)
c.299C>T (p.Ser100Phe)
n.531C>T
 dbSNP
16g.177377_177378delinsCTCA2200883300HBA1c.395_396delinsCT (p.Ser132=)
c.299_300delinsCT (p.Ser100=)
n.531_532delinsCT
16g.177378delCA276417241HBA1c.396del (p.Val133Ter)
c.300del (p.Val101Ter)
n.532del
 dbSNP
16g.177378T>ACA492994472HBA1c.396T>A (p.Ser132=)
c.300T>A (p.Ser100=)
n.532T>A
16g.177378T>CCA7770290HBA1c.396T>C (p.Ser132=)
c.300T>C (p.Ser100=)
n.532T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177378T>GCA492994474HBA1c.396T>G (p.Ser132=)
c.300T>G (p.Ser100=)
n.532T>G
16g.177378T=CA2200883301HBA1c.396T= (p.Ser132=)
c.300T= (p.Ser100=)
n.532T=
16g.177378dupCA276417238HBA1c.396dup (p.Val133CysfsTer?)
c.300dup (p.Val101CysfsTer?)
n.532dup
 ClinVar dbSNP
16g.177379G>ACA276417245HBA1c.397G>A (p.Val133Met)
c.301G>A (p.Val101Met)
n.533G>A
 ClinVar dbSNP gnomAD v4
16g.177379G>CCA393996006HBA1c.397G>C (p.Val133Leu)
c.301G>C (p.Val101Leu)
n.533G>C
16g.177379G=CA2200883302HBA1c.397G= (p.Val133=)
c.301G= (p.Val101=)
n.533G=
16g.177379G>TCA393996005HBA1c.397G>T (p.Val133Leu)
c.301G>T (p.Val101Leu)
n.533G>T
16g.177380_177383dupCA2575852724HBA1c.398_401dup (p.Thr135GlufsTer?)
c.302_305dup (p.Thr103GlufsTer?)
n.534_537dup
16g.177380T>ACA393996007HBA1c.398T>A (p.Val133Glu)
c.302T>A (p.Val101Glu)
n.534T>A
16g.177380T>CCA393996008HBA1c.398T>C (p.Val133Ala)
c.302T>C (p.Val101Ala)
n.534T>C
16g.177380T>GCA125955HBA1c.398T>G (p.Val133Gly)
c.302T>G (p.Val101Gly)
n.534T>G
 ClinVar dbSNP
16g.177380T=CA2200883303HBA1c.398T= (p.Val133=)
c.302T= (p.Val101=)
n.534T=
16g.177381G>ACA492994478HBA1c.399G>A (p.Val133=)
c.303G>A (p.Val101=)
n.535G>A
16g.177381G>CCA492994476HBA1c.399G>C (p.Val133=)
c.303G>C (p.Val101=)
n.535G>C
16g.177381G>TCA492994477HBA1c.399G>T (p.Val133=)
c.303G>T (p.Val101=)
n.535G>T
16g.177382A=CA2200883304HBA1c.400A= (p.Ser134=)
c.304A= (p.Ser102=)
n.536A=
16g.177382A>CCA276417248HBA1c.400A>C (p.Ser134Arg)
c.304A>C (p.Ser102Arg)
n.536A>C
 dbSNP
16g.177382A>GCA393996009HBA1c.400A>G (p.Ser134Gly)
c.304A>G (p.Ser102Gly)
n.536A>G
16g.177382A>TCA393996010HBA1c.400A>T (p.Ser134Cys)
c.304A>T (p.Ser102Cys)
n.536A>T
16g.177383G>ACA276417252HBA1c.401G>A (p.Ser134Asn)
c.305G>A (p.Ser102Asn)
n.537G>A
 dbSNP gnomAD v4
16g.177383G>CCA393996011HBA1c.401G>C (p.Ser134Thr)
c.305G>C (p.Ser102Thr)
n.537G>C
16g.177383G=CA2200883305HBA1c.401G= (p.Ser134=)
c.305G= (p.Ser102=)
n.537G=
16g.177383G>TCA393996012HBA1c.401G>T (p.Ser134Ile)
c.305G>T (p.Ser102Ile)
n.537G>T
16g.177383_177385delinsGCACA2200883306HBA1c.401_403delinsGCA (p.Ser134=)
c.305_307delinsGCA (p.Ser102=)
n.537_539delinsGCA
16g.177385_177391delCA2739290704HBA1c.403_409del (p.Thr135Ter)
c.307_313del (p.Thr103Ter)
n.539_545del
16g.177384C>ACA276417256HBA1c.402C>A (p.Ser134Arg)
c.306C>A (p.Ser102Arg)
n.538C>A
 dbSNP
16g.177384C=CA2200883307HBA1c.402C= (p.Ser134=)
c.306C= (p.Ser102=)
n.538C=
16g.177384C>GCA276417259HBA1c.402C>G (p.Ser134Arg)
c.306C>G (p.Ser102Arg)
n.538C>G
 dbSNP
16g.177384C>TCA492994480HBA1c.402C>T (p.Ser134=)
c.306C>T (p.Ser102=)
n.538C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177385_177386delCA718607494HBA1c.403_404del (p.Thr135ArgfsTer?)
c.307_308del (p.Thr103ArgfsTer?)
n.539_540del
 dbSNP gnomAD v3 gnomAD v4
16g.177385A=CA2200883309HBA1c.403A= (p.Thr135=)
c.307A= (p.Thr103=)
n.539A=
16g.177385A>CCA393996013HBA1c.403A>C (p.Thr135Pro)
c.307A>C (p.Thr103Pro)
n.539A>C
16g.177385A>GCA393996014HBA1c.403A>G (p.Thr135Ala)
c.307A>G (p.Thr103Ala)
n.539A>G
16g.177385A>TCA276417266HBA1c.403A>T (p.Thr135Ser)
c.307A>T (p.Thr103Ser)
n.539A>T
 dbSNP
16g.177385_177386delinsACCA2200883308HBA1c.403_404delinsAC (p.Thr135=)
c.307_308delinsAC (p.Thr103=)
n.539_540delinsAC
16g.177386C>ACA393996015HBA1c.404C>A (p.Thr135Asn)
c.308C>A (p.Thr103Asn)
n.540C>A
16g.177386C=CA2200883310HBA1c.404C= (p.Thr135=)
c.308C= (p.Thr103=)
n.540C=
16g.177386C>GCA276417272HBA1c.404C>G (p.Thr135Ser)
c.308C>G (p.Thr103Ser)
n.540C>G
 dbSNP gnomAD v4
16g.177386C>TCA7770291HBA1c.404C>T (p.Thr135Ile)
c.308C>T (p.Thr103Ile)
n.540C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.177387delCA276417269HBA1c.405del (p.Val136CysfsTer2)
c.309del (p.Val104CysfsTer2)
n.541del
 dbSNP

Number of alleles fetched