Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.171847_181556del | CA916083461 | ClinVar | ||
16 | g.172001_181401del | CA916083462 | ClinVar | ||
16 | g.177149_177753delinsAAGTAGA | CA915940715 | |||
16 | g.177313G>A | CA125931 | HBA1 | c.331G>A (p.Ala111Thr) c.235G>A (p.Ala79Thr) n.467G>A | ClinVar dbSNP gnomAD v2 |
16 | g.177313G>C | CA393995840 | HBA1 | c.331G>C (p.Ala111Pro) c.235G>C (p.Ala79Pro) n.467G>C | |
16 | g.177313G= | CA2200883251 | HBA1 | c.331G= (p.Ala111=) c.235G= (p.Ala79=) n.467G= | |
16 | g.177313G>T | CA393995841 | HBA1 | c.331G>T (p.Ala111Ser) c.235G>T (p.Ala79Ser) n.467G>T | |
16 | g.177313_177326delinsGCCGCCCACCTCCC | CA2200883252 | HBA1 | c.331_344delinsGCCGCCCACCTCCC (p.Ala111=) c.235_248delinsGCCGCCCACCTCCC (p.Ala79=) n.467_480delinsGCCGCCCACCTCCC | |
16 | g.177314C>A | CA125861 | HBA1 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | ClinVar dbSNP gnomAD v4 |
16 | g.177314C= | CA2200883253 | HBA1 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | |
16 | g.177314C>G | CA393995844 | HBA1 | c.332C>G (p.Ala111Gly) c.236C>G (p.Ala79Gly) n.468C>G | |
16 | g.177314C>T | CA7770278 | HBA1 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177315_177327del | CA276417128 | HBA1 | c.333_345del (p.Ala112ProfsTer18) c.237_249del (p.Ala80ProfsTer18) n.469_481del | dbSNP |
16 | g.177315C>A | CA492994396 | HBA1 | c.333C>A (p.Ala111=) c.237C>A (p.Ala79=) n.469C>A | |
16 | g.177315C>G | CA492994397 | HBA1 | c.333C>G (p.Ala111=) c.237C>G (p.Ala79=) n.469C>G | |
16 | g.177315C>T | CA492994398 | HBA1 | c.333C>T (p.Ala111=) c.237C>T (p.Ala79=) n.469C>T | |
16 | g.177316G>A | CA125985 | HBA1 | c.334G>A (p.Ala112Thr) c.238G>A (p.Ala80Thr) n.470G>A | ClinVar dbSNP gnomAD v4 |
16 | g.177316G>C | CA393995847 | HBA1 | c.334G>C (p.Ala112Pro) c.238G>C (p.Ala80Pro) n.470G>C | |
16 | g.177316G= | CA2200883254 | HBA1 | c.334G= (p.Ala112=) c.238G= (p.Ala80=) n.470G= | |
16 | g.177316G>T | CA393995849 | HBA1 | c.334G>T (p.Ala112Ser) c.238G>T (p.Ala80Ser) n.470G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177317C>A | CA393995851 | HBA1 | c.335C>A (p.Ala112Asp) c.239C>A (p.Ala80Asp) n.471C>A | |
16 | g.177317C= | CA2200883255 | HBA1 | c.335C= (p.Ala112=) c.239C= (p.Ala80=) n.471C= | |
16 | g.177317C>G | CA393995853 | HBA1 | c.335C>G (p.Ala112Gly) c.239C>G (p.Ala80Gly) n.471C>G | |
16 | g.177317C>T | CA393995855 | HBA1 | c.335C>T (p.Ala112Val) c.239C>T (p.Ala80Val) n.471C>T | ClinVar dbSNP |
16 | g.177318C>A | CA492994399 | HBA1 | c.336C>A (p.Ala112=) c.240C>A (p.Ala80=) n.472C>A | |
16 | g.177318C= | CA2200883256 | HBA1 | c.336C= (p.Ala112=) c.240C= (p.Ala80=) n.472C= | |
16 | g.177318C>G | CA7770279 | HBA1 | c.336C>G (p.Ala112=) c.240C>G (p.Ala80=) n.472C>G | dbSNP ExAC |
16 | g.177318C>T | CA492994400 | HBA1 | c.336C>T (p.Ala112=) c.240C>T (p.Ala80=) n.472C>T | |
16 | g.177319C>A | CA393995859 | HBA1 | c.337C>A (p.His113Asn) c.241C>A (p.His81Asn) n.473C>A | |
16 | g.177319C= | CA2200883257 | HBA1 | c.337C= (p.His113=) c.241C= (p.His81=) n.473C= | |
16 | g.177319C>G | CA125757 | HBA1 | c.337C>G (p.His113Asp) c.241C>G (p.His81Asp) n.473C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177319C>T | CA393995857 | HBA1 | c.337C>T (p.His113Tyr) c.241C>T (p.His81Tyr) n.473C>T | |
16 | g.177319_177333dup | CA1139664216 | HBA1 | c.337_351dup (p.Glu117_Phe118insHisLeuProAlaGlu) c.241_255dup (p.Glu85_Phe86insHisLeuProAlaGlu) n.473_487dup | ClinVar dbSNP |
16 | g.177320A= | CA2200883258 | HBA1 | c.338A= (p.His113=) c.242A= (p.His81=) n.474A= | |
16 | g.177320A>C | CA393995861 | HBA1 | c.338A>C (p.His113Pro) c.242A>C (p.His81Pro) n.474A>C | dbSNP COSMIC |
16 | g.177320A>G | CA125897 | HBA1 | c.338A>G (p.His113Arg) c.242A>G (p.His81Arg) n.474A>G | ClinVar dbSNP gnomAD v4 |
16 | g.177320A>T | CA393995863 | HBA1 | c.338A>T (p.His113Leu) c.242A>T (p.His81Leu) n.474A>T | |
16 | g.177321C>A | CA276417141 | HBA1 | c.339C>A (p.His113Gln) c.243C>A (p.His81Gln) n.475C>A | dbSNP |
16 | g.177321C= | CA2200883259 | HBA1 | c.339C= (p.His113=) c.243C= (p.His81=) n.475C= | |
16 | g.177321C>G | CA393995868 | HBA1 | c.339C>G (p.His113Gln) c.243C>G (p.His81Gln) n.475C>G | |
16 | g.177321C>T | CA492994402 | HBA1 | c.339C>T (p.His113=) c.243C>T (p.His81=) n.475C>T | gnomAD v4 |
16 | g.177323_177326dup | CA2200883260 | HBA1 | c.341_344dup (p.Ala116ProfsTer?) c.245_248dup (p.Ala84ProfsTer?) n.477_480dup | dbSNP |
16 | g.177322C>A | CA393995869 | HBA1 | c.340C>A (p.Leu114Ile) c.244C>A (p.Leu82Ile) n.476C>A | |
16 | g.177322C>G | CA393995870 | HBA1 | c.340C>G (p.Leu114Val) c.244C>G (p.Leu82Val) n.476C>G | |
16 | g.177322C>T | CA393995871 | HBA1 | c.340C>T (p.Leu114Phe) c.244C>T (p.Leu82Phe) n.476C>T | |
16 | g.177323T>A | CA125915 | HBA1 | c.341T>A (p.Leu114His) c.245T>A (p.Leu82His) n.477T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177323T>C | CA393995872 | HBA1 | c.341T>C (p.Leu114Pro) c.245T>C (p.Leu82Pro) n.477T>C | |
16 | g.177323T>G | CA393995873 | HBA1 | c.341T>G (p.Leu114Arg) c.245T>G (p.Leu82Arg) n.477T>G | |
16 | g.177323T= | CA2200883261 | HBA1 | c.341T= (p.Leu114=) c.245T= (p.Leu82=) n.477T= | |
16 | g.177323_177324delinsTC | CA2200883262 | HBA1 | c.341_342delinsTC (p.Leu114=) c.245_246delinsTC (p.Leu82=) n.477_478delinsTC |