| 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.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 | |
| 16 | g.173510_173522delinsCCTCCCCGCCGAG | CA2200880917 | HBA2 | c.339_351delinsCCTCCCCGCCGAG (p.His113=) c.243_255delinsCCTCCCCGCCGAG (p.His81=) n.475_487delinsCCTCCCCGCCGAG | |
| 16 | g.173511C>A | CA7770178 | HBA2 | c.340C>A (p.Leu114Ile) c.244C>A (p.Leu82Ile) n.476C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173511C= | CA2200880919 | HBA2 | c.340C= (p.Leu114=) c.244C= (p.Leu82=) n.476C= | |
| 16 | g.173511C>G | CA393994468 | HBA2 | c.340C>G (p.Leu114Val) c.244C>G (p.Leu82Val) n.476C>G | |
| 16 | g.173511C>T | CA393994470 | HBA2 | c.340C>T (p.Leu114Phe) c.244C>T (p.Leu82Phe) n.476C>T | gnomAD v4 |
| 16 | g.173511_173522del | CA16602271 | HBA2 | c.340_351del (p.Leu114_Glu117del) c.244_255del (p.Leu82_Glu85del) n.476_487del | dbSNP |
| 16 | g.173512T>A | CA276415363 | HBA2 | c.341T>A (p.Leu114His) c.245T>A (p.Leu82His) n.477T>A | dbSNP |
| 16 | g.173512T>C | CA393994474 | HBA2 | c.341T>C (p.Leu114Pro) c.245T>C (p.Leu82Pro) n.477T>C | |
| 16 | g.173512T>G | CA125633 | HBA2 | c.341T>G (p.Leu114Arg) c.245T>G (p.Leu82Arg) n.477T>G | ClinVar dbSNP |
| 16 | g.173512T= | CA2200880920 | HBA2 | c.341T= (p.Leu114=) c.245T= (p.Leu82=) n.477T= | |
| 16 | g.173512_173513delinsTC | CA2200880921 | HBA2 | c.341_342delinsTC (p.Leu114=) c.245_246delinsTC (p.Leu82=) n.477_478delinsTC | |
| 16 | g.173513C>A | CA492785243 | HBA2 | c.342C>A (p.Leu114=) c.246C>A (p.Leu82=) n.478C>A | |
| 16 | g.173513C>G | CA492785244 | HBA2 | c.342C>G (p.Leu114=) c.246C>G (p.Leu82=) n.478C>G | |
| 16 | g.173513C>T | CA492785246 | HBA2 | c.342C>T (p.Leu114=) c.246C>T (p.Leu82=) n.478C>T | |
| 16 | g.173515_173516dup | CA2630737884 | HBA2 | c.344_345dup (p.Ala116ProfsTer19) c.248_249dup (p.Ala84ProfsTer19) n.480_481dup | gnomAD v4 |
| 16 | g.173516del | CA7770179 | HBA2 | c.345del (p.Ala116ProfsTer18) c.249del (p.Ala84ProfsTer18) n.481del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.173514C>A | CA276415374 | HBA2 | c.343C>A (p.Pro115Thr) c.247C>A (p.Pro83Thr) n.479C>A | dbSNP |
| 16 | g.173514C= | CA2200880923 | HBA2 | c.343C= (p.Pro115=) c.247C= (p.Pro83=) n.479C= | |
| 16 | g.173514C>G | CA276415377 | HBA2 | c.343C>G (p.Pro115Ala) c.247C>G (p.Pro83Ala) n.479C>G | dbSNP gnomAD v4 |
| 16 | g.173514C>T | CA7770180 | HBA2 | c.343C>T (p.Pro115Ser) c.247C>T (p.Pro83Ser) n.479C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.173514_173517delinsCCCG | CA2200880922 | HBA2 | c.343_346delinsCCCG (p.Pro115=) c.247_250delinsCCCG (p.Pro83=) n.479_482delinsCCCG | |
| 16 | g.173515C>A | CA393994482 | HBA2 | c.344C>A (p.Pro115His) c.248C>A (p.Pro83His) n.480C>A | |
| 16 | g.173515C= | CA2200880924 | HBA2 | c.344C= (p.Pro115=) c.248C= (p.Pro83=) n.480C= | |
| 16 | g.173515C>G | CA276415384 | HBA2 | c.344C>G (p.Pro115Arg) c.248C>G (p.Pro83Arg) n.480C>G | ClinVar dbSNP |
| 16 | g.173515C>T | CA276415389 | HBA2 | c.344C>T (p.Pro115Leu) c.248C>T (p.Pro83Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.173518_173520del | CA276415381 | HBA2 | c.347_349del (p.Ala116del) c.251_253del (p.Ala84del) n.483_485del | dbSNP gnomAD v4 |
| 16 | g.173516C>A | CA492785261 | HBA2 | c.345C>A (p.Pro115=) c.249C>A (p.Pro83=) n.481C>A | |
| 16 | g.173516C= | CA2200880925 | HBA2 | c.345C= (p.Pro115=) c.249C= (p.Pro83=) n.481C= | |
| 16 | g.173516C>G | CA492785259 | HBA2 | c.345C>G (p.Pro115=) c.249C>G (p.Pro83=) n.481C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.173516C>T | CA492785257 | HBA2 | c.345C>T (p.Pro115=) c.249C>T (p.Pro83=) n.481C>T | dbSNP |
| 16 | g.173517G>A | CA393994484 | HBA2 | c.346G>A (p.Ala116Thr) c.250G>A (p.Ala84Thr) n.482G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173517G>C | CA393994486 | HBA2 | c.346G>C (p.Ala116Pro) c.250G>C (p.Ala84Pro) n.482G>C | |
| 16 | g.173517G= | CA2200880926 | HBA2 | c.346G= (p.Ala116=) c.250G= (p.Ala84=) n.482G= | |
| 16 | g.173517G>T | CA393994487 | HBA2 | c.346G>T (p.Ala116Ser) c.250G>T (p.Ala84Ser) n.482G>T | |
| 16 | g.173518C>A | CA276415392 | HBA2 | c.347C>A (p.Ala116Asp) c.251C>A (p.Ala84Asp) n.483C>A | dbSNP gnomAD v4 |
| 16 | g.173518C= | CA2200880927 | HBA2 | c.347C= (p.Ala116=) c.251C= (p.Ala84=) n.483C= | |
| 16 | g.173518C>G | CA393994489 | HBA2 | c.347C>G (p.Ala116Gly) c.251C>G (p.Ala84Gly) n.483C>G | |
| 16 | g.173518C>T | CA393994491 | HBA2 | c.347C>T (p.Ala116Val) c.251C>T (p.Ala84Val) n.483C>T | |
| 16 | g.173520_173530del | CA2695221225 | HBA2 | c.349_359del (p.Glu117CysfsTer?) c.253_263del (p.Glu85CysfsTer?) n.485_495del |