Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.171847_181556delCA916083461 ClinVar
16g.172001_181401delCA916083462 ClinVar
16g.172005_177200delCA16602274 ClinVar
16g.173384_177187delCA16602246 ClinVar
16g.177069_177070delinsACCA2200883075HBA1c.236_237delinsAC (p.Asn79=)
c.140_141delinsAC (p.Asn47=)
n.372_373delinsAC
n.205_206delinsAC
16g.177070delCA7770248HBA1c.237del (p.Asn79LysfsTer6)
c.141del (p.Asn47LysfsTer6)
n.373del
n.206del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.177070C>ACA393995430HBA1c.237C>A (p.Asn79Lys)
c.141C>A (p.Asn47Lys)
n.373C>A
n.206C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.177070C=CA2200883076HBA1c.237C= (p.Asn79=)
c.141C= (p.Asn47=)
n.373C=
n.206C=
16g.177070C>GCA125895HBA1c.237C>G (p.Asn79Lys)
c.141C>G (p.Asn47Lys)
n.373C>G
n.206C>G
ClinVar dbSNP
16g.177070C>TCA492994608HBA1c.237C>T (p.Asn79=)
c.141C>T (p.Asn47=)
n.373C>T
n.206C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177071G>ACA125983HBA1c.238G>A (p.Ala80Thr)
c.142G>A (p.Ala48Thr)
n.374G>A
n.207G>A
ClinVar dbSNP
16g.177071G>CCA393995435HBA1c.238G>C (p.Ala80Pro)
c.142G>C (p.Ala48Pro)
n.374G>C
n.207G>C
16g.177071G=CA2200883077HBA1c.238G= (p.Ala80=)
c.142G= (p.Ala48=)
n.374G=
n.207G=
16g.177071G>TCA393995437HBA1c.238G>T (p.Ala80Ser)
c.142G>T (p.Ala48Ser)
n.374G>T
n.207G>T
16g.177072C>ACA393995441HBA1c.239C>A (p.Ala80Glu)
c.143C>A (p.Ala48Glu)
n.375C>A
n.208C>A
16g.177072C=CA2200883078HBA1c.239C= (p.Ala80=)
c.143C= (p.Ala48=)
n.375C=
n.208C=
16g.177072C>GCA038224HBA1c.239C>G (p.Ala80Gly)
c.143C>G (p.Ala48Gly)
n.375C>G
n.208C>G
dbSNP
16g.177072C>TCA393995439HBA1c.239C>T (p.Ala80Val)
c.143C>T (p.Ala48Val)
n.375C>T
n.208C>T
16g.177073G>ACA7770249HBA1c.240G>A (p.Ala80=)
c.144G>A (p.Ala48=)
n.376G>A
n.209G>A
dbSNP ExAC gnomAD v2
16g.177073G>CCA492994614HBA1c.240G>C (p.Ala80=)
c.144G>C (p.Ala48=)
n.376G>C
n.209G>C
gnomAD v4
16g.177073G=CA2200883079HBA1c.240G= (p.Ala80=)
c.144G= (p.Ala48=)
n.376G=
n.209G=
16g.177073G>TCA492994613HBA1c.240G>T (p.Ala80=)
c.144G>T (p.Ala48=)
n.376G>T
n.209G>T
gnomAD v4
16g.177074C>ACA393995447HBA1c.241C>A (p.Leu81Met)
c.145C>A (p.Leu49Met)
n.377C>A
n.210C>A
16g.177074C>GCA393995445HBA1c.241C>G (p.Leu81Val)
c.145C>G (p.Leu49Val)
n.377C>G
n.210C>G
16g.177074C>TCA492994615HBA1c.241C>T (p.Leu81=)
c.145C>T (p.Leu49=)
n.377C>T
n.210C>T
16g.177075T>ACA393995449HBA1c.242T>A (p.Leu81Gln)
c.146T>A (p.Leu49Gln)
n.378T>A
n.211T>A
16g.177075T>CCA393995450HBA1c.242T>C (p.Leu81Pro)
c.146T>C (p.Leu49Pro)
n.378T>C
n.211T>C
16g.177075T>GCA125672HBA1c.242T>G (p.Leu81Arg)
c.146T>G (p.Leu49Arg)
n.378T>G
n.211T>G
ClinVar dbSNP
16g.177075T=CA2200883080HBA1c.242T= (p.Leu81=)
c.146T= (p.Leu49=)
n.378T=
n.211T=
16g.177076G>ACA492994617HBA1c.243G>A (p.Leu81=)
c.147G>A (p.Leu49=)
n.379G>A
n.212G>A
16g.177076G>CCA492994619HBA1c.243G>C (p.Leu81=)
c.147G>C (p.Leu49=)
n.379G>C
n.212G>C
16g.177076G>TCA492994621HBA1c.243G>T (p.Leu81=)
c.147G>T (p.Leu49=)
n.379G>T
n.212G>T
16g.177077T>ACA393995454HBA1c.244T>A (p.Ser82Thr)
c.148T>A (p.Ser50Thr)
n.380T>A
n.213T>A
16g.177077T>CCA393995455HBA1c.244T>C (p.Ser82Pro)
c.148T>C (p.Ser50Pro)
n.380T>C
n.213T>C
16g.177077T>GCA393995457HBA1c.244T>G (p.Ser82Ala)
c.148T>G (p.Ser50Ala)
n.380T>G
n.213T>G
16g.177078C>ACA393995459HBA1c.245C>A (p.Ser82Tyr)
c.149C>A (p.Ser50Tyr)
n.381C>A
n.214C>A
gnomAD v4
16g.177078C=CA2200883081HBA1c.245C= (p.Ser82=)
c.149C= (p.Ser50=)
n.381C=
n.214C=
16g.177078C>GCA125837HBA1c.245C>G (p.Ser82Cys)
c.149C>G (p.Ser50Cys)
n.381C>G
n.214C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.177078C>TCA393995461HBA1c.245C>T (p.Ser82Phe)
c.149C>T (p.Ser50Phe)
n.381C>T
n.214C>T
16g.177078_177087delinsCCGCCCTGAGCA2200883082HBA1c.245_254delinsCCGCCCTGAG (p.Ser82=)
c.149_158delinsCCGCCCTGAG (p.Ser50=)
n.381_390delinsCCGCCCTGAG
n.214_223delinsCCGCCCTGAG
16g.177079C>ACA492994624HBA1c.246C>A (p.Ser82=)
c.150C>A (p.Ser50=)
n.382C>A
n.215C>A
16g.177079C=CA2200883083HBA1c.246C= (p.Ser82=)
c.150C= (p.Ser50=)
n.382C=
n.215C=
16g.177079C>GCA492994625HBA1c.246C>G (p.Ser82=)
c.150C>G (p.Ser50=)
n.382C>G
n.215C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.177079C>TCA492994626HBA1c.246C>T (p.Ser82=)
c.150C>T (p.Ser50=)
n.382C>T
n.215C>T
16g.177081_177089delCA276416957HBA1c.248_256del (p.Ala83_Ser85del)
c.152_160del (p.Ala51_Ser53del)
n.384_392del
n.217_225del
dbSNP
16g.177080G>ACA276416959HBA1c.247G>A (p.Ala83Thr)
c.151G>A (p.Ala51Thr)
n.383G>A
n.216G>A
dbSNP gnomAD v4
16g.177080G>CCA393995464HBA1c.247G>C (p.Ala83Pro)
c.151G>C (p.Ala51Pro)
n.383G>C
n.216G>C
dbSNP gnomAD v2 gnomAD v4
16g.177080G=CA2200883084HBA1c.247G= (p.Ala83=)
c.151G= (p.Ala51=)
n.383G=
n.216G=
16g.177080G>TCA393995466HBA1c.247G>T (p.Ala83Ser)
c.151G>T (p.Ala51Ser)
n.383G>T
n.216G>T
gnomAD v4
16g.177080_177087delinsTGCACA2695221233HBA1c.247_254delinsTGCA (p.Ala83CysfsTer19)
c.151_158delinsTGCA (p.Ala51CysfsTer19)
n.383_390delinsTGCA
n.216_223delinsTGCA

Number of alleles fetched