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.173129T>A | CA393993239 | HBA2 | c.100T>A (p.Phe34Ile) c.4T>A (p.Phe2Ile) n.236T>A n.69T>A | |
16 | g.173129T>C | CA393993240 | HBA2 | c.100T>C (p.Phe34Leu) c.4T>C (p.Phe2Leu) n.236T>C n.69T>C | |
16 | g.173129T>G | CA393993241 | HBA2 | c.100T>G (p.Phe34Val) c.4T>G (p.Phe2Val) n.236T>G n.69T>G | dbSNP gnomAD v4 |
16 | g.173129T= | CA2200880626 | HBA2 | c.100T= (p.Phe34=) c.4T= (p.Phe2=) n.236T= n.69T= | |
16 | g.173130T>A | CA393993245 | HBA2 | c.101T>A (p.Phe34Tyr) c.5T>A (p.Phe2Tyr) n.237T>A n.70T>A | gnomAD v4 |
16 | g.173130T>C | CA125642 | HBA2 | c.101T>C (p.Phe34Ser) c.5T>C (p.Phe2Ser) n.237T>C n.70T>C | ClinVar dbSNP |
16 | g.173130T>G | CA393993243 | HBA2 | c.101T>G (p.Phe34Cys) c.5T>G (p.Phe2Cys) n.237T>G n.70T>G | |
16 | g.173130T= | CA2200880627 | HBA2 | c.101T= (p.Phe34=) c.5T= (p.Phe2=) n.237T= n.70T= | |
16 | g.173131C>A | CA393993246 | HBA2 | c.102C>A (p.Phe34Leu) c.6C>A (p.Phe2Leu) n.238C>A n.71C>A | |
16 | g.173131C>G | CA393993248 | HBA2 | c.102C>G (p.Phe34Leu) c.6C>G (p.Phe2Leu) n.238C>G n.71C>G | |
16 | g.173131C>T | CA492994516 | HBA2 | c.102C>T (p.Phe34=) c.6C>T (p.Phe2=) n.238C>T n.71C>T | |
16 | g.173132C>A | CA393993250 | HBA2 | c.103C>A (p.Leu35Met) c.7C>A (p.Leu3Met) n.239C>A n.72C>A | COSMIC |
16 | g.173132C= | CA2200880628 | HBA2 | c.103C= (p.Leu35=) c.7C= (p.Leu3=) n.239C= n.72C= | |
16 | g.173132C>G | CA393993252 | HBA2 | c.103C>G (p.Leu35Val) c.7C>G (p.Leu3Val) n.239C>G n.72C>G | |
16 | g.173132C>T | CA276414548 | HBA2 | c.103C>T (p.Leu35=) c.7C>T (p.Leu3=) n.239C>T n.72C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.173133T>A | CA393993255 | HBA2 | c.104T>A (p.Leu35Gln) c.8T>A (p.Leu3Gln) n.240T>A n.73T>A | |
16 | g.173133T>C | CA393993257 | HBA2 | c.104T>C (p.Leu35Pro) c.8T>C (p.Leu3Pro) n.240T>C n.73T>C | |
16 | g.173133T>G | CA276414551 | HBA2 | c.104T>G (p.Leu35Arg) c.8T>G (p.Leu3Arg) n.240T>G n.73T>G | dbSNP |
16 | g.173133T= | CA2200880629 | HBA2 | c.104T= (p.Leu35=) c.8T= (p.Leu3=) n.240T= n.73T= | |
16 | g.173134G>A | CA492994518 | HBA2 | c.105G>A (p.Leu35=) c.9G>A (p.Leu3=) n.241G>A n.74G>A | |
16 | g.173134G>C | CA492994519 | HBA2 | c.105G>C (p.Leu35=) c.9G>C (p.Leu3=) n.241G>C n.74G>C | |
16 | g.173134G>T | CA492994520 | HBA2 | c.105G>T (p.Leu35=) c.9G>T (p.Leu3=) n.241G>T n.74G>T | |
16 | g.173135T>A | CA393993258 | HBA2 | c.106T>A (p.Ser36Thr) c.10T>A (p.Ser4Thr) n.242T>A n.75T>A | gnomAD v4 |
16 | g.173135T>C | CA276414554 | HBA2 | c.106T>C (p.Ser36Pro) c.10T>C (p.Ser4Pro) n.242T>C n.75T>C | ClinVar dbSNP |
16 | g.173135T>G | CA393993261 | HBA2 | c.106T>G (p.Ser36Ala) c.10T>G (p.Ser4Ala) n.242T>G n.75T>G | |
16 | g.173135T= | CA2200880630 | HBA2 | c.106T= (p.Ser36=) c.10T= (p.Ser4=) n.242T= n.75T= | |
16 | g.173136C>A | CA276414557 | HBA2 | c.107C>A (p.Ser36Tyr) c.11C>A (p.Ser4Tyr) n.243C>A n.76C>A | dbSNP |
16 | g.173136C= | CA2200880631 | HBA2 | c.107C= (p.Ser36=) c.11C= (p.Ser4=) n.243C= n.76C= | |
16 | g.173136C>G | CA393993263 | HBA2 | c.107C>G (p.Ser36Cys) c.11C>G (p.Ser4Cys) n.243C>G n.76C>G | |
16 | g.173136C>T | CA393993265 | HBA2 | c.107C>T (p.Ser36Phe) c.11C>T (p.Ser4Phe) n.243C>T n.76C>T | |
16 | g.173137C>A | CA492994525 | HBA2 | c.108C>A (p.Ser36=) c.12C>A (p.Ser4=) n.244C>A n.77C>A | |
16 | g.173137C>G | CA492994526 | HBA2 | c.108C>G (p.Ser36=) c.12C>G (p.Ser4=) n.244C>G n.77C>G | |
16 | g.173137C>T | CA492994523 | HBA2 | c.108C>T (p.Ser36=) c.12C>T (p.Ser4=) n.244C>T n.77C>T | |
16 | g.173138T>A | CA393993266 | HBA2 | c.109T>A (p.Phe37Ile) c.13T>A (p.Phe5Ile) n.245T>A n.78T>A | |
16 | g.173138T>C | CA276414560 | HBA2 | c.109T>C (p.Phe37Leu) c.13T>C (p.Phe5Leu) n.245T>C n.78T>C | dbSNP |
16 | g.173138T>G | CA393993268 | HBA2 | c.109T>G (p.Phe37Val) c.13T>G (p.Phe5Val) n.245T>G n.78T>G | |
16 | g.173138T= | CA2200880632 | HBA2 | c.109T= (p.Phe37=) c.13T= (p.Phe5=) n.245T= n.78T= | |
16 | g.173139T>A | CA393993269 | HBA2 | c.110T>A (p.Phe37Tyr) c.14T>A (p.Phe5Tyr) n.246T>A n.79T>A | |
16 | g.173139T>C | CA393993270 | HBA2 | c.110T>C (p.Phe37Ser) c.14T>C (p.Phe5Ser) n.246T>C n.79T>C | |
16 | g.173139T>G | CA393993271 | HBA2 | c.110T>G (p.Phe37Cys) c.14T>G (p.Phe5Cys) n.246T>G n.79T>G | |
16 | g.173139_173140delinsTC | CA2200880633 | HBA2 | c.110_111delinsTC (p.Phe37=) c.14_15delinsTC (p.Phe5=) n.246_247delinsTC n.79_80delinsTC | |
16 | g.173140C>A | CA393993274 | HBA2 | c.111C>A (p.Phe37Leu) c.15C>A (p.Phe5Leu) n.247C>A n.80C>A | |
16 | g.173140C= | CA2200880634 | HBA2 | c.111C= (p.Phe37=) c.15C= (p.Phe5=) n.247C= n.80C= | |
16 | g.173140C>G | CA393993273 | HBA2 | c.111C>G (p.Phe37Leu) c.15C>G (p.Phe5Leu) n.247C>G n.80C>G | dbSNP |
16 | g.173140C>T | CA492994527 | HBA2 | c.111C>T (p.Phe37=) c.15C>T (p.Phe5=) n.247C>T n.80C>T | |
16 | g.173143del | CA276414564 | HBA2 | c.114del (p.Thr39ProfsTer11) c.18del (p.Thr7ProfsTer11) n.250del n.83del | dbSNP |