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.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 |
16 | g.177088C>A | CA276416970 | HBA1 | c.255C>A (p.Ser85Arg) c.159C>A (p.Ser53Arg) n.391C>A n.224C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.177088C= | CA2200883089 | HBA1 | c.255C= (p.Ser85=) c.159C= (p.Ser53=) n.391C= n.224C= | |
16 | g.177088C>G | CA276416971 | HBA1 | c.255C>G (p.Ser85Arg) c.159C>G (p.Ser53Arg) n.391C>G n.224C>G | dbSNP |
16 | g.177088C>T | CA492994639 | HBA1 | c.255C>T (p.Ser85=) c.159C>T (p.Ser53=) n.391C>T n.224C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.177089G>A | CA125733 | HBA1 | c.256G>A (p.Asp86Asn) c.160G>A (p.Asp54Asn) n.392G>A n.225G>A | ClinVar dbSNP gnomAD v4 |
16 | g.177089G>C | CA276416974 | HBA1 | c.256G>C (p.Asp86His) c.160G>C (p.Asp54His) n.392G>C n.225G>C | ClinVar dbSNP |
16 | g.177089G= | CA2200883090 | HBA1 | c.256G= (p.Asp86=) c.160G= (p.Asp54=) n.392G= n.225G= | |
16 | g.177089G>T | CA125676 | HBA1 | c.256G>T (p.Asp86Tyr) c.160G>T (p.Asp54Tyr) n.392G>T n.225G>T | ClinVar dbSNP |
16 | g.177090A= | CA2200883091 | HBA1 | c.257A= (p.Asp86=) c.161A= (p.Asp54=) n.393A= n.226A= | |
16 | g.177090A>C | CA393995508 | HBA1 | c.257A>C (p.Asp86Ala) c.161A>C (p.Asp54Ala) n.393A>C n.226A>C |