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.173478A= | CA2200880894 | HBA2 | c.307A= (p.Ser103=) c.211A= (p.Ser71=) n.443A= | |
16 | g.173478A>C | CA7770172 | HBA2 | c.307A>C (p.Ser103Arg) c.211A>C (p.Ser71Arg) n.443A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173478A>G | CA393994377 | HBA2 | c.307A>G (p.Ser103Gly) c.211A>G (p.Ser71Gly) n.443A>G | |
16 | g.173478A>T | CA393994378 | HBA2 | c.307A>T (p.Ser103Cys) c.211A>T (p.Ser71Cys) n.443A>T | |
16 | g.173479G>A | CA393994380 | HBA2 | c.308G>A (p.Ser103Asn) c.212G>A (p.Ser71Asn) n.444G>A | gnomAD v4 |
16 | g.173479G>C | CA393994382 | HBA2 | c.308G>C (p.Ser103Thr) c.212G>C (p.Ser71Thr) n.444G>C | |
16 | g.173479G>T | CA393994384 | HBA2 | c.308G>T (p.Ser103Ile) c.212G>T (p.Ser71Ile) n.444G>T | |
16 | g.173480C>A | CA249735 | HBA2 | c.309C>A (p.Ser103Arg) c.213C>A (p.Ser71Arg) n.445C>A | ClinVar dbSNP gnomAD v4 |
16 | g.173480C= | CA2200880895 | HBA2 | c.309C= (p.Ser103=) c.213C= (p.Ser71=) n.445C= | |
16 | g.173480C>G | CA276415282 | HBA2 | c.309C>G (p.Ser103Arg) c.213C>G (p.Ser71Arg) n.445C>G | dbSNP |
16 | g.173480C>T | CA492785074 | HBA2 | c.309C>T (p.Ser103=) c.213C>T (p.Ser71=) n.445C>T | |
16 | g.173481C>A | CA393994388 | HBA2 | c.310C>A (p.His104Asn) c.214C>A (p.His72Asn) n.446C>A | |
16 | g.173481C= | CA2200880896 | HBA2 | c.310C= (p.His104=) c.214C= (p.His72=) n.446C= | |
16 | g.173481C>G | CA393994387 | HBA2 | c.310C>G (p.His104Asp) c.214C>G (p.His72Asp) n.446C>G | |
16 | g.173481C>T | CA125631 | HBA2 | c.310C>T (p.His104Tyr) c.214C>T (p.His72Tyr) n.446C>T | ClinVar dbSNP |
16 | g.173481_173484dup | CA2630737862 | HBA2 | c.310_313dup (p.Cys105SerfsTer?) c.214_217dup (p.Cys73SerfsTer?) n.446_449dup | gnomAD v4 |
16 | g.173482A= | CA2200880897 | HBA2 | c.311A= (p.His104=) c.215A= (p.His72=) n.447A= | |
16 | g.173482A>C | CA393994390 | HBA2 | c.311A>C (p.His104Pro) c.215A>C (p.His72Pro) n.447A>C | |
16 | g.173482A>G | CA276415287 | HBA2 | c.311A>G (p.His104Arg) c.215A>G (p.His72Arg) n.447A>G | ClinVar dbSNP |
16 | g.173482A>T | CA276415290 | HBA2 | c.311A>T (p.His104Leu) c.215A>T (p.His72Leu) n.447A>T | dbSNP |
16 | g.173483C>A | CA393994393 | HBA2 | c.312C>A (p.His104Gln) c.216C>A (p.His72Gln) n.448C>A | |
16 | g.173483C>G | CA393994394 | HBA2 | c.312C>G (p.His104Gln) c.216C>G (p.His72Gln) n.448C>G | |
16 | g.173483C>T | CA492785088 | HBA2 | c.312C>T (p.His104=) c.216C>T (p.His72=) n.448C>T | gnomAD v4 |
16 | g.173484T>A | CA393994396 | HBA2 | c.313T>A (p.Cys105Ser) c.217T>A (p.Cys73Ser) n.449T>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173484T>C | CA393994398 | HBA2 | c.313T>C (p.Cys105Arg) c.217T>C (p.Cys73Arg) n.449T>C | ClinVar dbSNP gnomAD v4 |
16 | g.173484T>G | CA393994400 | HBA2 | c.313T>G (p.Cys105Gly) c.217T>G (p.Cys73Gly) n.449T>G | dbSNP |
16 | g.173484T= | CA2200880898 | HBA2 | c.313T= (p.Cys105=) c.217T= (p.Cys73=) n.449T= | |
16 | g.173485G>A | CA125601 | HBA2 | c.314G>A (p.Cys105Tyr) c.218G>A (p.Cys73Tyr) n.450G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173485G>C | CA393994402 | HBA2 | c.314G>C (p.Cys105Ser) c.218G>C (p.Cys73Ser) n.450G>C | |
16 | g.173485G= | CA2200880899 | HBA2 | c.314G= (p.Cys105=) c.218G= (p.Cys73=) n.450G= | |
16 | g.173485G>T | CA393994404 | HBA2 | c.314G>T (p.Cys105Phe) c.218G>T (p.Cys73Phe) n.450G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.173486C>A | CA393994405 | HBA2 | c.315C>A (p.Cys105Ter) c.219C>A (p.Cys73Ter) n.451C>A | gnomAD v4 |
16 | g.173486C>G | CA393994406 | HBA2 | c.315C>G (p.Cys105Trp) c.219C>G (p.Cys73Trp) n.451C>G | |
16 | g.173486C>T | CA492785100 | HBA2 | c.315C>T (p.Cys105=) c.219C>T (p.Cys73=) n.451C>T | |
16 | g.173487C>A | CA393994408 | HBA2 | c.316C>A (p.Leu106Met) c.220C>A (p.Leu74Met) n.452C>A | |
16 | g.173487C>G | CA393994410 | HBA2 | c.316C>G (p.Leu106Val) c.220C>G (p.Leu74Val) n.452C>G | |
16 | g.173487C>T | CA492785106 | HBA2 | c.316C>T (p.Leu106=) c.220C>T (p.Leu74=) n.452C>T | |
16 | g.173488T>A | CA393994412 | HBA2 | c.317T>A (p.Leu106Gln) c.221T>A (p.Leu74Gln) n.453T>A | |
16 | g.173488T>C | CA393994413 | HBA2 | c.317T>C (p.Leu106Pro) c.221T>C (p.Leu74Pro) n.453T>C | |
16 | g.173488T>G | CA393994414 | HBA2 | c.317T>G (p.Leu106Arg) c.221T>G (p.Leu74Arg) n.453T>G | |
16 | g.173489G>A | CA492785119 | HBA2 | c.318G>A (p.Leu106=) c.222G>A (p.Leu74=) n.454G>A | |
16 | g.173489G>C | CA492785121 | HBA2 | c.318G>C (p.Leu106=) c.222G>C (p.Leu74=) n.454G>C | |
16 | g.173489G>T | CA492785124 | HBA2 | c.318G>T (p.Leu106=) c.222G>T (p.Leu74=) n.454G>T | |
16 | g.173490C>A | CA7770173 | HBA2 | c.319C>A (p.Leu107Met) c.223C>A (p.Leu75Met) n.455C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.173490C= | CA2200880900 | HBA2 | c.319C= (p.Leu107=) c.223C= (p.Leu75=) n.455C= | |
16 | g.173490C>G | CA393994417 | HBA2 | c.319C>G (p.Leu107Val) c.223C>G (p.Leu75Val) n.455C>G |