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.177076G>A | CA492994617 | HBA1 | c.243G>A (p.Leu81=) c.147G>A (p.Leu49=) n.379G>A n.212G>A | |
16 | g.177076G>C | CA492994619 | HBA1 | c.243G>C (p.Leu81=) c.147G>C (p.Leu49=) n.379G>C n.212G>C | |
16 | g.177076G>T | CA492994621 | HBA1 | c.243G>T (p.Leu81=) c.147G>T (p.Leu49=) n.379G>T n.212G>T | |
16 | g.177077T>A | CA393995454 | HBA1 | c.244T>A (p.Ser82Thr) c.148T>A (p.Ser50Thr) n.380T>A n.213T>A | |
16 | g.177077T>C | CA393995455 | HBA1 | c.244T>C (p.Ser82Pro) c.148T>C (p.Ser50Pro) n.380T>C n.213T>C | |
16 | g.177077T>G | CA393995457 | HBA1 | c.244T>G (p.Ser82Ala) c.148T>G (p.Ser50Ala) n.380T>G n.213T>G | |
16 | g.177078C>A | CA393995459 | HBA1 | c.245C>A (p.Ser82Tyr) c.149C>A (p.Ser50Tyr) n.381C>A n.214C>A | gnomAD v4 |
16 | g.177078C= | CA2200883081 | HBA1 | c.245C= (p.Ser82=) c.149C= (p.Ser50=) n.381C= n.214C= | |
16 | g.177078C>G | CA125837 | HBA1 | c.245C>G (p.Ser82Cys) c.149C>G (p.Ser50Cys) n.381C>G n.214C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.177078C>T | CA393995461 | HBA1 | c.245C>T (p.Ser82Phe) c.149C>T (p.Ser50Phe) n.381C>T n.214C>T | |
16 | g.177078_177087delinsCCGCCCTGAG | CA2200883082 | HBA1 | c.245_254delinsCCGCCCTGAG (p.Ser82=) c.149_158delinsCCGCCCTGAG (p.Ser50=) n.381_390delinsCCGCCCTGAG n.214_223delinsCCGCCCTGAG | |
16 | g.177079C>A | CA492994624 | HBA1 | c.246C>A (p.Ser82=) c.150C>A (p.Ser50=) n.382C>A n.215C>A | |
16 | g.177079C= | CA2200883083 | HBA1 | c.246C= (p.Ser82=) c.150C= (p.Ser50=) n.382C= n.215C= | |
16 | g.177079C>G | CA492994625 | HBA1 | c.246C>G (p.Ser82=) c.150C>G (p.Ser50=) n.382C>G n.215C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177079C>T | CA492994626 | HBA1 | c.246C>T (p.Ser82=) c.150C>T (p.Ser50=) n.382C>T n.215C>T | |
16 | g.177081_177089del | CA276416957 | HBA1 | c.248_256del (p.Ala83_Ser85del) c.152_160del (p.Ala51_Ser53del) n.384_392del n.217_225del | dbSNP |
16 | g.177080G>A | CA276416959 | HBA1 | c.247G>A (p.Ala83Thr) c.151G>A (p.Ala51Thr) n.383G>A n.216G>A | dbSNP gnomAD v4 |
16 | g.177080G>C | CA393995464 | HBA1 | c.247G>C (p.Ala83Pro) c.151G>C (p.Ala51Pro) n.383G>C n.216G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.177080G= | CA2200883084 | HBA1 | c.247G= (p.Ala83=) c.151G= (p.Ala51=) n.383G= n.216G= | |
16 | g.177080G>T | CA393995466 | HBA1 | c.247G>T (p.Ala83Ser) c.151G>T (p.Ala51Ser) n.383G>T n.216G>T | gnomAD v4 |
16 | g.177080_177087delinsTGCA | CA2695221233 | HBA1 | c.247_254delinsTGCA (p.Ala83CysfsTer19) c.151_158delinsTGCA (p.Ala51CysfsTer19) n.383_390delinsTGCA n.216_223delinsTGCA | |
16 | g.177081C>A | CA125741 | HBA1 | c.248C>A (p.Ala83Asp) c.152C>A (p.Ala51Asp) n.384C>A n.217C>A | ClinVar dbSNP gnomAD v4 |
16 | g.177081C= | CA2200883085 | HBA1 | c.248C= (p.Ala83=) c.152C= (p.Ala51=) n.384C= n.217C= | |
16 | g.177081C>G | CA393995469 | HBA1 | c.248C>G (p.Ala83Gly) c.152C>G (p.Ala51Gly) n.384C>G n.217C>G | |
16 | g.177081C>T | CA393995470 | HBA1 | c.248C>T (p.Ala83Val) c.152C>T (p.Ala51Val) n.384C>T n.217C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.177082C>A | CA492994628 | HBA1 | c.249C>A (p.Ala83=) c.153C>A (p.Ala51=) n.385C>A n.218C>A | gnomAD v4 |
16 | g.177082C>G | CA492994629 | HBA1 | c.249C>G (p.Ala83=) c.153C>G (p.Ala51=) n.385C>G n.218C>G | |
16 | g.177082C>T | CA492994631 | HBA1 | c.249C>T (p.Ala83=) c.153C>T (p.Ala51=) n.385C>T n.218C>T | gnomAD v4 |
16 | g.177083C>A | CA393995474 | HBA1 | c.250C>A (p.Leu84Met) c.154C>A (p.Leu52Met) n.386C>A n.219C>A | |
16 | g.177083C= | CA2200883086 | HBA1 | c.250C= (p.Leu84=) c.154C= (p.Leu52=) n.386C= n.219C= | |
16 | g.177083C>G | CA393995475 | HBA1 | c.250C>G (p.Leu84Val) c.154C>G (p.Leu52Val) n.386C>G n.219C>G | |
16 | g.177083C>T | CA7770250 | HBA1 | c.250C>T (p.Leu84=) c.154C>T (p.Leu52=) n.386C>T n.219C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177084T>A | CA393995479 | HBA1 | c.251T>A (p.Leu84Gln) c.155T>A (p.Leu52Gln) n.387T>A n.220T>A | |
16 | g.177084T>C | CA393995482 | HBA1 | c.251T>C (p.Leu84Pro) c.155T>C (p.Leu52Pro) n.387T>C n.220T>C | gnomAD v4 |
16 | g.177084T>G | CA393995485 | HBA1 | c.251T>G (p.Leu84Arg) c.155T>G (p.Leu52Arg) n.387T>G n.220T>G | |
16 | g.177085G>A | CA492994635 | HBA1 | c.252G>A (p.Leu84=) c.156G>A (p.Leu52=) n.388G>A n.221G>A | |
16 | g.177085G>C | CA492994636 | HBA1 | c.252G>C (p.Leu84=) c.156G>C (p.Leu52=) n.388G>C n.221G>C | |
16 | g.177085G= | CA2200883087 | HBA1 | c.252G= (p.Leu84=) c.156G= (p.Leu52=) n.388G= n.221G= | |
16 | g.177085G>T | CA492994637 | HBA1 | c.252G>T (p.Leu84=) c.156G>T (p.Leu52=) n.388G>T n.221G>T | dbSNP gnomAD v4 |
16 | g.177086A= | CA2200883088 | HBA1 | c.253A= (p.Ser85=) c.157A= (p.Ser53=) n.389A= n.222A= | |
16 | g.177086A>C | CA125719 | HBA1 | c.253A>C (p.Ser85Arg) c.157A>C (p.Ser53Arg) n.389A>C n.222A>C | ClinVar dbSNP |
16 | g.177086A>G | CA276416967 | HBA1 | c.253A>G (p.Ser85Gly) c.157A>G (p.Ser53Gly) n.389A>G n.222A>G | dbSNP |
16 | g.177086A>T | CA393995490 | HBA1 | c.253A>T (p.Ser85Cys) c.157A>T (p.Ser53Cys) n.389A>T n.222A>T | |
16 | g.177087G>A | CA393995493 | HBA1 | c.254G>A (p.Ser85Asn) c.158G>A (p.Ser53Asn) n.390G>A n.223G>A | |
16 | g.177087G>C | CA393995495 | HBA1 | c.254G>C (p.Ser85Thr) c.158G>C (p.Ser53Thr) n.390G>C n.223G>C | |
16 | g.177087G>T | CA393995498 | HBA1 | c.254G>T (p.Ser85Ile) c.158G>T (p.Ser53Ile) n.390G>T n.223G>T | gnomAD v4 |