Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.139561592_139561594del | CA2695236283 | F9 | c.907_909del (p.His303del) n.1574_1576del c.793_795del (p.His265del) c.778_780del (p.His260del) | |
X | g.139561591C>A | CA414444733 | F9 | c.906C>A (p.His302Gln) n.1573C>A c.792C>A (p.His264Gln) c.777C>A (p.His259Gln) | |
X | g.139561591C>G | CA414444734 | F9 | c.906C>G (p.His302Gln) n.1573C>G c.792C>G (p.His264Gln) c.777C>G (p.His259Gln) | |
X | g.139561591C>T | CA518916449 | F9 | c.906C>T (p.His302=) n.1573C>T c.792C>T (p.His264=) c.777C>T (p.His259=) | ClinVar dbSNP |
X | g.139561592del | CA2695236284 | F9 | c.907del (p.His303ThrfsTer23) n.1574del c.793del (p.His265ThrfsTer23) c.778del (p.His260ThrfsTer23) | |
X | g.139561592C>A | CA414444738 | F9 | c.907C>A (p.His303Asn) n.1574C>A c.793C>A (p.His265Asn) c.778C>A (p.His260Asn) | |
X | g.139561592C= | CA2461412092 | F9 | c.907C= (p.His303=) n.1574C= c.793C= (p.His265=) c.778C= (p.His260=) | |
X | g.139561592C>G | CA414444736 | F9 | c.907C>G (p.His303Asp) n.1574C>G c.793C>G (p.His265Asp) c.778C>G (p.His260Asp) | |
X | g.139561592C>T | CA121135 | F9 | c.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 |
X | g.139561593A>C | CA414444739 | F9 | c.908A>C (p.His303Pro) n.1575A>C c.794A>C (p.His265Pro) c.779A>C (p.His260Pro) | |
X | g.139561593A>G | CA414444740 | F9 | c.908A>G (p.His303Arg) n.1575A>G c.794A>G (p.His265Arg) c.779A>G (p.His260Arg) | |
X | g.139561593A>T | CA414444741 | F9 | c.908A>T (p.His303Leu) n.1575A>T c.794A>T (p.His265Leu) c.779A>T (p.His260Leu) | |
X | g.139561594del | CA2695236285 | F9 | c.909del (p.His303GlnfsTer23) n.1576del c.795del (p.His265GlnfsTer23) c.780del (p.His260GlnfsTer23) | |
X | g.139561594C>A | CA414444742 | F9 | c.909C>A (p.His303Gln) n.1576C>A c.795C>A (p.His265Gln) c.780C>A (p.His260Gln) | |
X | g.139561594C>G | CA414444743 | F9 | c.909C>G (p.His303Gln) n.1576C>G c.795C>G (p.His265Gln) c.780C>G (p.His260Gln) | |
X | g.139561594C>T | CA518916456 | F9 | c.909C>T (p.His303=) n.1576C>T c.795C>T (p.His265=) c.780C>T (p.His260=) | ClinVar dbSNP gnomAD v4 |
X | g.139561595A>C | CA414444745 | F9 | c.910A>C (p.Asn304His) n.1577A>C c.796A>C (p.Asn266His) c.781A>C (p.Asn261His) | |
X | g.139561595A>G | CA414444746 | F9 | c.910A>G (p.Asn304Asp) n.1577A>G c.796A>G (p.Asn266Asp) c.781A>G (p.Asn261Asp) | |
X | g.139561595A>T | CA414444750 | F9 | c.910A>T (p.Asn304Tyr) n.1577A>T c.796A>T (p.Asn266Tyr) c.781A>T (p.Asn261Tyr) | |
X | g.139561595_139561596insTTG | CA2695236286 | F9 | c.910_911insTTG (p.Asn304delinsIleAsp) n.1577_1578insTTG c.796_797insTTG (p.Asn266delinsIleAsp) c.781_782insTTG (p.Asn261delinsIleAsp) | |
X | g.139561596A= | CA2461412093 | F9 | c.911A= (p.Asn304=) n.1578A= c.797A= (p.Asn266=) c.782A= (p.Asn261=) | |
X | g.139561596A>C | CA414444752 | F9 | c.911A>C (p.Asn304Thr) n.1578A>C c.797A>C (p.Asn266Thr) c.782A>C (p.Asn261Thr) | |
X | g.139561596A>G | CA414444754 | F9 | c.911A>G (p.Asn304Ser) n.1578A>G c.797A>G (p.Asn266Ser) c.782A>G (p.Asn261Ser) | dbSNP gnomAD v4 |
X | g.139561596A>T | CA414444755 | F9 | c.911A>T (p.Asn304Ile) n.1578A>T c.797A>T (p.Asn266Ile) c.782A>T (p.Asn261Ile) | |
X | g.139561597C>A | CA414444756 | F9 | c.912C>A (p.Asn304Lys) n.1579C>A c.798C>A (p.Asn266Lys) c.783C>A (p.Asn261Lys) | dbSNP |
X | g.139561597C= | CA2461412094 | F9 | c.912C= (p.Asn304=) n.1579C= c.798C= (p.Asn266=) c.783C= (p.Asn261=) | |
X | g.139561597C>G | CA414444757 | F9 | c.912C>G (p.Asn304Lys) n.1579C>G c.798C>G (p.Asn266Lys) c.783C>G (p.Asn261Lys) | |
X | g.139561597C>T | CA518916463 | F9 | c.912C>T (p.Asn304=) n.1579C>T c.798C>T (p.Asn266=) c.783C>T (p.Asn261=) | |
X | g.139561598T>A | CA414444763 | F9 | c.913T>A (p.Tyr305Asn) n.1580T>A c.799T>A (p.Tyr267Asn) c.784T>A (p.Tyr262Asn) | |
X | g.139561598T>C | CA414444764 | F9 | c.913T>C (p.Tyr305His) n.1580T>C c.799T>C (p.Tyr267His) c.784T>C (p.Tyr262His) | |
X | g.139561598T>G | CA414444762 | F9 | c.913T>G (p.Tyr305Asp) n.1580T>G c.799T>G (p.Tyr267Asp) c.784T>G (p.Tyr262Asp) | |
X | g.139561599A= | CA2461412095 | F9 | c.914A= (p.Tyr305=) n.1581A= c.800A= (p.Tyr267=) c.785A= (p.Tyr262=) | |
X | g.139561599A>C | CA414444770 | F9 | c.914A>C (p.Tyr305Ser) n.1581A>C c.800A>C (p.Tyr267Ser) c.785A>C (p.Tyr262Ser) | |
X | g.139561599A>G | CA414444767 | F9 | c.914A>G (p.Tyr305Cys) n.1581A>G c.800A>G (p.Tyr267Cys) c.785A>G (p.Tyr262Cys) | ClinVar dbSNP |
X | g.139561599A>T | CA414444768 | F9 | c.914A>T (p.Tyr305Phe) n.1581A>T c.800A>T (p.Tyr267Phe) c.785A>T (p.Tyr262Phe) | |
X | g.139561600C>A | CA414444771 | F9 | c.915C>A (p.Tyr305Ter) n.1582C>A c.801C>A (p.Tyr267Ter) c.786C>A (p.Tyr262Ter) | |
X | g.139561600C= | CA2461412096 | F9 | c.915C= (p.Tyr305=) n.1582C= c.801C= (p.Tyr267=) c.786C= (p.Tyr262=) | |
X | g.139561600C>G | CA414444772 | F9 | c.915C>G (p.Tyr305Ter) n.1582C>G c.801C>G (p.Tyr267Ter) c.786C>G (p.Tyr262Ter) | |
X | g.139561600C>T | CA518916470 | F9 | c.915C>T (p.Tyr305=) n.1582C>T c.801C>T (p.Tyr267=) c.786C>T (p.Tyr262=) | |
X | g.139561601A>C | CA414444774 | F9 | c.916A>C (p.Asn306His) n.1583A>C c.802A>C (p.Asn268His) c.787A>C (p.Asn263His) | |
X | g.139561601A>G | CA414444775 | F9 | c.916A>G (p.Asn306Asp) n.1583A>G c.802A>G (p.Asn268Asp) c.787A>G (p.Asn263Asp) | |
X | g.139561601A>T | CA414444776 | F9 | c.916A>T (p.Asn306Tyr) n.1583A>T c.802A>T (p.Asn268Tyr) c.787A>T (p.Asn263Tyr) | |
X | g.139561602dup | CA872127669 | F9 | c.917dup (p.Asn306LysfsTer5) n.1584dup c.803dup (p.Asn268LysfsTer5) c.788dup (p.Asn263LysfsTer5) | dbSNP |
X | g.139561602A= | CA2461412097 | F9 | c.917A= (p.Asn306=) n.1584A= c.803A= (p.Asn268=) c.788A= (p.Asn263=) | |
X | g.139561602A>C | CA414444777 | F9 | c.917A>C (p.Asn306Thr) n.1584A>C c.803A>C (p.Asn268Thr) c.788A>C (p.Asn263Thr) | dbSNP |
X | g.139561602A>G | CA255373 | F9 | c.917A>G (p.Asn306Ser) n.1584A>G c.803A>G (p.Asn268Ser) c.788A>G (p.Asn263Ser) | ClinVar dbSNP |
X | g.139561602A>T | CA414444781 | F9 | c.917A>T (p.Asn306Ile) n.1584A>T c.803A>T (p.Asn268Ile) c.788A>T (p.Asn263Ile) | |
X | g.139561603T>A | CA414444782 | F9 | c.918T>A (p.Asn306Lys) n.1585T>A c.804T>A (p.Asn268Lys) c.789T>A (p.Asn263Lys) | |
X | g.139561603T>C | CA518916475 | F9 | c.918T>C (p.Asn306=) n.1585T>C c.804T>C (p.Asn268=) c.789T>C (p.Asn263=) | gnomAD v4 |
X | g.139561603T>G | CA414444783 | F9 | c.918T>G (p.Asn306Lys) n.1585T>G c.804T>G (p.Asn268Lys) c.789T>G (p.Asn263Lys) |