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.177313_177326delinsGCCGCCCACCTCCC | CA2200883252 | HBA1 | c.331_344delinsGCCGCCCACCTCCC (p.Ala111=) c.235_248delinsGCCGCCCACCTCCC (p.Ala79=) n.467_480delinsGCCGCCCACCTCCC | |
16 | g.177315_177327del | CA276417128 | HBA1 | c.333_345del (p.Ala112ProfsTer18) c.237_249del (p.Ala80ProfsTer18) n.469_481del | dbSNP |
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 | |
16 | g.177324C>A | CA492994403 | HBA1 | c.342C>A (p.Leu114=) c.246C>A (p.Leu82=) n.478C>A | |
16 | g.177324C>G | CA492994404 | HBA1 | c.342C>G (p.Leu114=) c.246C>G (p.Leu82=) n.478C>G | gnomAD v4 |
16 | g.177324C>T | CA492994405 | HBA1 | c.342C>T (p.Leu114=) c.246C>T (p.Leu82=) n.478C>T | |
16 | g.177327del | CA620304283 | HBA1 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177325C>A | CA393995875 | HBA1 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP gnomAD v4 |
16 | g.177325C= | CA2200883264 | HBA1 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | |
16 | g.177325C>G | CA276417150 | HBA1 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
16 | g.177325C>T | CA125963 | HBA1 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.177325_177326delinsCC | CA2200883263 | HBA1 | c.343_344delinsCC (p.Pro115=) c.247_248delinsCC (p.Pro83=) n.479_480delinsCC | |
16 | g.177325_177326delinsTT | CA276417146 | HBA1 | c.343_344delinsTT (p.Pro115Phe) c.247_248delinsTT (p.Pro83Phe) n.479_480delinsTT | dbSNP |
16 | g.177326C>A | CA393995879 | HBA1 | c.344C>A (p.Pro115His) c.248C>A (p.Pro83His) n.480C>A | gnomAD v4 |
16 | g.177326C= | CA2200883265 | HBA1 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | |
16 | g.177326C>G | CA125699 | HBA1 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
16 | g.177326C>T | CA125843 | HBA1 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
16 | g.177327C>A | CA492994406 | HBA1 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | gnomAD v4 |
16 | g.177327C= | CA2200883266 | HBA1 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
16 | g.177327C>G | CA492994407 | HBA1 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177327C>T | CA7770280 | HBA1 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.177328G>A | CA393995882 | HBA1 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | |
16 | g.177328G>C | CA393995883 | HBA1 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
16 | g.177328G= | CA2200883267 | HBA1 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
16 | g.177328G>T | CA393995884 | HBA1 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
16 | g.177329C>A | CA125791 | HBA1 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | ClinVar dbSNP |