Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139561592_139561594delCA2695236283F9c.907_909del (p.His303del)
n.1574_1576del
c.793_795del (p.His265del)
c.778_780del (p.His260del)
Xg.139561591C>ACA414444733F9c.906C>A (p.His302Gln)
n.1573C>A
c.792C>A (p.His264Gln)
c.777C>A (p.His259Gln)
Xg.139561591C>GCA414444734F9c.906C>G (p.His302Gln)
n.1573C>G
c.792C>G (p.His264Gln)
c.777C>G (p.His259Gln)
Xg.139561591C>TCA518916449F9c.906C>T (p.His302=)
n.1573C>T
c.792C>T (p.His264=)
c.777C>T (p.His259=)
ClinVar dbSNP
Xg.139561592delCA2695236284F9c.907del (p.His303ThrfsTer23)
n.1574del
c.793del (p.His265ThrfsTer23)
c.778del (p.His260ThrfsTer23)
Xg.139561592C>ACA414444738F9c.907C>A (p.His303Asn)
n.1574C>A
c.793C>A (p.His265Asn)
c.778C>A (p.His260Asn)
Xg.139561592C=CA2461412092F9c.907C= (p.His303=)
n.1574C=
c.793C= (p.His265=)
c.778C= (p.His260=)
Xg.139561592C>GCA414444736F9c.907C>G (p.His303Asp)
n.1574C>G
c.793C>G (p.His265Asp)
c.778C>G (p.His260Asp)
Xg.139561592C>TCA121135F9c.907C>T (p.His303Tyr)
n.1574C>T
c.793C>T (p.His265Tyr)
c.778C>T (p.His260Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.139561593A>CCA414444739F9c.908A>C (p.His303Pro)
n.1575A>C
c.794A>C (p.His265Pro)
c.779A>C (p.His260Pro)
Xg.139561593A>GCA414444740F9c.908A>G (p.His303Arg)
n.1575A>G
c.794A>G (p.His265Arg)
c.779A>G (p.His260Arg)
Xg.139561593A>TCA414444741F9c.908A>T (p.His303Leu)
n.1575A>T
c.794A>T (p.His265Leu)
c.779A>T (p.His260Leu)
Xg.139561594delCA2695236285F9c.909del (p.His303GlnfsTer23)
n.1576del
c.795del (p.His265GlnfsTer23)
c.780del (p.His260GlnfsTer23)
Xg.139561594C>ACA414444742F9c.909C>A (p.His303Gln)
n.1576C>A
c.795C>A (p.His265Gln)
c.780C>A (p.His260Gln)
Xg.139561594C>GCA414444743F9c.909C>G (p.His303Gln)
n.1576C>G
c.795C>G (p.His265Gln)
c.780C>G (p.His260Gln)
Xg.139561594C>TCA518916456F9c.909C>T (p.His303=)
n.1576C>T
c.795C>T (p.His265=)
c.780C>T (p.His260=)
ClinVar dbSNP gnomAD v4
Xg.139561595A>CCA414444745F9c.910A>C (p.Asn304His)
n.1577A>C
c.796A>C (p.Asn266His)
c.781A>C (p.Asn261His)
Xg.139561595A>GCA414444746F9c.910A>G (p.Asn304Asp)
n.1577A>G
c.796A>G (p.Asn266Asp)
c.781A>G (p.Asn261Asp)
Xg.139561595A>TCA414444750F9c.910A>T (p.Asn304Tyr)
n.1577A>T
c.796A>T (p.Asn266Tyr)
c.781A>T (p.Asn261Tyr)
Xg.139561595_139561596insTTGCA2695236286F9c.910_911insTTG (p.Asn304delinsIleAsp)
n.1577_1578insTTG
c.796_797insTTG (p.Asn266delinsIleAsp)
c.781_782insTTG (p.Asn261delinsIleAsp)
Xg.139561596A=CA2461412093F9c.911A= (p.Asn304=)
n.1578A=
c.797A= (p.Asn266=)
c.782A= (p.Asn261=)
Xg.139561596A>CCA414444752F9c.911A>C (p.Asn304Thr)
n.1578A>C
c.797A>C (p.Asn266Thr)
c.782A>C (p.Asn261Thr)
Xg.139561596A>GCA414444754F9c.911A>G (p.Asn304Ser)
n.1578A>G
c.797A>G (p.Asn266Ser)
c.782A>G (p.Asn261Ser)
dbSNP gnomAD v4
Xg.139561596A>TCA414444755F9c.911A>T (p.Asn304Ile)
n.1578A>T
c.797A>T (p.Asn266Ile)
c.782A>T (p.Asn261Ile)
Xg.139561597C>ACA414444756F9c.912C>A (p.Asn304Lys)
n.1579C>A
c.798C>A (p.Asn266Lys)
c.783C>A (p.Asn261Lys)
dbSNP
Xg.139561597C=CA2461412094F9c.912C= (p.Asn304=)
n.1579C=
c.798C= (p.Asn266=)
c.783C= (p.Asn261=)
Xg.139561597C>GCA414444757F9c.912C>G (p.Asn304Lys)
n.1579C>G
c.798C>G (p.Asn266Lys)
c.783C>G (p.Asn261Lys)
Xg.139561597C>TCA518916463F9c.912C>T (p.Asn304=)
n.1579C>T
c.798C>T (p.Asn266=)
c.783C>T (p.Asn261=)
Xg.139561598T>ACA414444763F9c.913T>A (p.Tyr305Asn)
n.1580T>A
c.799T>A (p.Tyr267Asn)
c.784T>A (p.Tyr262Asn)
Xg.139561598T>CCA414444764F9c.913T>C (p.Tyr305His)
n.1580T>C
c.799T>C (p.Tyr267His)
c.784T>C (p.Tyr262His)
Xg.139561598T>GCA414444762F9c.913T>G (p.Tyr305Asp)
n.1580T>G
c.799T>G (p.Tyr267Asp)
c.784T>G (p.Tyr262Asp)
Xg.139561599A=CA2461412095F9c.914A= (p.Tyr305=)
n.1581A=
c.800A= (p.Tyr267=)
c.785A= (p.Tyr262=)
Xg.139561599A>CCA414444770F9c.914A>C (p.Tyr305Ser)
n.1581A>C
c.800A>C (p.Tyr267Ser)
c.785A>C (p.Tyr262Ser)
Xg.139561599A>GCA414444767F9c.914A>G (p.Tyr305Cys)
n.1581A>G
c.800A>G (p.Tyr267Cys)
c.785A>G (p.Tyr262Cys)
ClinVar dbSNP
Xg.139561599A>TCA414444768F9c.914A>T (p.Tyr305Phe)
n.1581A>T
c.800A>T (p.Tyr267Phe)
c.785A>T (p.Tyr262Phe)
Xg.139561600C>ACA414444771F9c.915C>A (p.Tyr305Ter)
n.1582C>A
c.801C>A (p.Tyr267Ter)
c.786C>A (p.Tyr262Ter)
Xg.139561600C=CA2461412096F9c.915C= (p.Tyr305=)
n.1582C=
c.801C= (p.Tyr267=)
c.786C= (p.Tyr262=)
Xg.139561600C>GCA414444772F9c.915C>G (p.Tyr305Ter)
n.1582C>G
c.801C>G (p.Tyr267Ter)
c.786C>G (p.Tyr262Ter)
Xg.139561600C>TCA518916470F9c.915C>T (p.Tyr305=)
n.1582C>T
c.801C>T (p.Tyr267=)
c.786C>T (p.Tyr262=)
Xg.139561601A>CCA414444774F9c.916A>C (p.Asn306His)
n.1583A>C
c.802A>C (p.Asn268His)
c.787A>C (p.Asn263His)
Xg.139561601A>GCA414444775F9c.916A>G (p.Asn306Asp)
n.1583A>G
c.802A>G (p.Asn268Asp)
c.787A>G (p.Asn263Asp)
Xg.139561601A>TCA414444776F9c.916A>T (p.Asn306Tyr)
n.1583A>T
c.802A>T (p.Asn268Tyr)
c.787A>T (p.Asn263Tyr)
Xg.139561602dupCA872127669F9c.917dup (p.Asn306LysfsTer5)
n.1584dup
c.803dup (p.Asn268LysfsTer5)
c.788dup (p.Asn263LysfsTer5)
dbSNP
Xg.139561602A=CA2461412097F9c.917A= (p.Asn306=)
n.1584A=
c.803A= (p.Asn268=)
c.788A= (p.Asn263=)
Xg.139561602A>CCA414444777F9c.917A>C (p.Asn306Thr)
n.1584A>C
c.803A>C (p.Asn268Thr)
c.788A>C (p.Asn263Thr)
dbSNP
Xg.139561602A>GCA255373F9c.917A>G (p.Asn306Ser)
n.1584A>G
c.803A>G (p.Asn268Ser)
c.788A>G (p.Asn263Ser)
ClinVar dbSNP
Xg.139561602A>TCA414444781F9c.917A>T (p.Asn306Ile)
n.1584A>T
c.803A>T (p.Asn268Ile)
c.788A>T (p.Asn263Ile)
Xg.139561603T>ACA414444782F9c.918T>A (p.Asn306Lys)
n.1585T>A
c.804T>A (p.Asn268Lys)
c.789T>A (p.Asn263Lys)
Xg.139561603T>CCA518916475F9c.918T>C (p.Asn306=)
n.1585T>C
c.804T>C (p.Asn268=)
c.789T>C (p.Asn263=)
gnomAD v4
Xg.139561603T>GCA414444783F9c.918T>G (p.Asn306Lys)
n.1585T>G
c.804T>G (p.Asn268Lys)
c.789T>G (p.Asn263Lys)

Number of alleles fetched