Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.171847_181556del | CA916083461 | ClinVar | ||
16 | g.172001_181401del | CA916083462 | ClinVar | ||
16 | g.172005_177200del | CA16602274 | ClinVar | ||
16 | g.173384_177187del | CA16602246 | ClinVar | ||
16 | g.173500T>A | CA393994445 | HBA2 | c.329T>A (p.Leu110Gln) c.233T>A (p.Leu78Gln) n.465T>A | |
16 | g.173500T>C | CA393994447 | HBA2 | c.329T>C (p.Leu110Pro) c.233T>C (p.Leu78Pro) n.465T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173500T>G | CA125561 | HBA2 | c.329T>G (p.Leu110Arg) c.233T>G (p.Leu78Arg) n.465T>G | ClinVar dbSNP |
16 | g.173500T= | CA2200880908 | HBA2 | c.329T= (p.Leu110=) c.233T= (p.Leu78=) n.465T= | |
16 | g.173501G>A | CA492785195 | HBA2 | c.330G>A (p.Leu110=) c.234G>A (p.Leu78=) n.466G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173501G>C | CA492785194 | HBA2 | c.330G>C (p.Leu110=) c.234G>C (p.Leu78=) n.466G>C | |
16 | g.173501G= | CA2200880909 | HBA2 | c.330G= (p.Leu110=) c.234G= (p.Leu78=) n.466G= | |
16 | g.173501G>T | CA492785190 | HBA2 | c.330G>T (p.Leu110=) c.234G>T (p.Leu78=) n.466G>T | |
16 | g.173502G>A | CA276415312 | HBA2 | c.331G>A (p.Ala111Thr) c.235G>A (p.Ala79Thr) n.467G>A | dbSNP gnomAD v4 |
16 | g.173502G>C | CA393994451 | HBA2 | c.331G>C (p.Ala111Pro) c.235G>C (p.Ala79Pro) n.467G>C | |
16 | g.173502G= | CA2200880910 | HBA2 | c.331G= (p.Ala111=) c.235G= (p.Ala79=) n.467G= | |
16 | g.173502G>T | CA393994449 | HBA2 | c.331G>T (p.Ala111Ser) c.235G>T (p.Ala79Ser) n.467G>T | |
16 | g.173503C>A | CA276415316 | HBA2 | c.332C>A (p.Ala111Asp) c.236C>A (p.Ala79Asp) n.468C>A | dbSNP |
16 | g.173503C= | CA2200880911 | HBA2 | c.332C= (p.Ala111=) c.236C= (p.Ala79=) n.468C= | |
16 | g.173503C>G | CA393994452 | HBA2 | c.332C>G (p.Ala111Gly) c.236C>G (p.Ala79Gly) n.468C>G | |
16 | g.173503C>T | CA125599 | HBA2 | c.332C>T (p.Ala111Val) c.236C>T (p.Ala79Val) n.468C>T | ClinVar dbSNP |
16 | g.173504C>A | CA492785199 | HBA2 | c.333C>A (p.Ala111=) c.237C>A (p.Ala79=) n.469C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.173504C= | CA2200880912 | HBA2 | c.333C= (p.Ala111=) c.237C= (p.Ala79=) n.469C= | |
16 | g.173504C>G | CA492785201 | HBA2 | c.333C>G (p.Ala111=) c.237C>G (p.Ala79=) n.469C>G | |
16 | g.173504C>T | CA492785204 | HBA2 | c.333C>T (p.Ala111=) c.237C>T (p.Ala79=) n.469C>T | gnomAD v4 |
16 | g.173505G>A | CA276415321 | HBA2 | c.334G>A (p.Ala112Thr) c.238G>A (p.Ala80Thr) n.470G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.173505G>C | CA393994455 | HBA2 | c.334G>C (p.Ala112Pro) c.238G>C (p.Ala80Pro) n.470G>C | |
16 | g.173505G= | CA2200880913 | HBA2 | c.334G= (p.Ala112=) c.238G= (p.Ala80=) n.470G= | |
16 | g.173505G>T | CA393994456 | HBA2 | c.334G>T (p.Ala112Ser) c.238G>T (p.Ala80Ser) n.470G>T | |
16 | g.173506C>A | CA393994457 | HBA2 | c.335C>A (p.Ala112Asp) c.239C>A (p.Ala80Asp) n.471C>A | |
16 | g.173506C= | CA2200880914 | HBA2 | c.335C= (p.Ala112=) c.239C= (p.Ala80=) n.471C= | |
16 | g.173506C>G | CA393994459 | HBA2 | c.335C>G (p.Ala112Gly) c.239C>G (p.Ala80Gly) n.471C>G | |
16 | g.173506C>T | CA276415325 | HBA2 | c.335C>T (p.Ala112Val) c.239C>T (p.Ala80Val) n.471C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.173507C>A | CA492785214 | HBA2 | c.336C>A (p.Ala112=) c.240C>A (p.Ala80=) n.472C>A | |
16 | g.173507C>G | CA492785216 | HBA2 | c.336C>G (p.Ala112=) c.240C>G (p.Ala80=) n.472C>G | |
16 | g.173507C>T | CA492785218 | HBA2 | c.336C>T (p.Ala112=) c.240C>T (p.Ala80=) n.472C>T | |
16 | g.173508C>A | CA276415327 | HBA2 | c.337C>A (p.His113Asn) c.241C>A (p.His81Asn) n.473C>A | dbSNP |
16 | g.173508C= | CA2200880915 | HBA2 | c.337C= (p.His113=) c.241C= (p.His81=) n.473C= | |
16 | g.173508C>G | CA276415330 | HBA2 | c.337C>G (p.His113Asp) c.241C>G (p.His81Asp) n.473C>G | dbSNP gnomAD v4 |
16 | g.173508C>T | CA276415338 | HBA2 | c.337C>T (p.His113Tyr) c.241C>T (p.His81Tyr) n.473C>T | dbSNP gnomAD v4 |
16 | g.173509A= | CA2200880916 | HBA2 | c.338A= (p.His113=) c.242A= (p.His81=) n.474A= | |
16 | g.173509A>C | CA393994463 | HBA2 | c.338A>C (p.His113Pro) c.242A>C (p.His81Pro) n.474A>C | gnomAD v4 |
16 | g.173509A>G | CA276415342 | HBA2 | c.338A>G (p.His113Arg) c.242A>G (p.His81Arg) n.474A>G | dbSNP |
16 | g.173509A>T | CA393994466 | HBA2 | c.338A>T (p.His113Leu) c.242A>T (p.His81Leu) n.474A>T | gnomAD v4 |
16 | g.173510_173521del | CA2695221223 | HBA2 | c.339_350del (p.His113_Glu117delinsGln) c.243_254del (p.His81_Glu85delinsGln) n.475_486del | |
16 | g.173510C>A | CA393994467 | HBA2 | c.339C>A (p.His113Gln) c.243C>A (p.His81Gln) n.475C>A | |
16 | g.173510C= | CA2200880918 | HBA2 | c.339C= (p.His113=) c.243C= (p.His81=) n.475C= | |
16 | g.173510C>G | CA16602270 | HBA2 | c.339C>G (p.His113Gln) c.243C>G (p.His81Gln) n.475C>G | dbSNP |
16 | g.[173510C>G;173511_173522del] | CA645373018 | HBA2 | c.[339C>G;340_351del] (p.[His113Gln;Leu114_Glu117del]) c.[243C>G;244_255del] (p.[His81Gln;Leu82_Glu85del]) n.[475C>G;476_487del] | ClinVar |
16 | g.173510C>T | CA492785233 | HBA2 | c.339C>T (p.His113=) c.243C>T (p.His81=) n.475C>T | |
16 | g.173511del | CA2695221224 | HBA2 | c.340del (p.Leu114SerfsTer20) c.244del (p.Leu82SerfsTer20) n.476del |