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.177116_177136dup | CA1139664214 | HBA1 | c.283_300+3dup c.187_204+3dup n.419_436+3dup n.252_272dup | ClinVar |
16 | g.177120C>A | CA276417026 | HBA1 | c.287C>A (p.Pro96Gln) c.191C>A (p.Pro64Gln) n.423C>A n.256C>A | dbSNP gnomAD v4 |
16 | g.177120C= | CA2200883116 | HBA1 | c.287C= (p.Pro96=) c.191C= (p.Pro64=) n.423C= n.256C= | |
16 | g.177120C>G | CA125893 | HBA1 | c.287C>G (p.Pro96Arg) c.191C>G (p.Pro64Arg) n.423C>G n.256C>G | ClinVar dbSNP gnomAD v4 |
16 | g.177120C>T | CA125731 | HBA1 | c.287C>T (p.Pro96Leu) c.191C>T (p.Pro64Leu) n.423C>T n.256C>T | ClinVar dbSNP gnomAD v4 |
16 | g.177121G>A | CA7770251 | HBA1 | c.288G>A (p.Pro96=) c.192G>A (p.Pro64=) n.424G>A n.257G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177121G>C | CA492994729 | HBA1 | c.288G>C (p.Pro96=) c.192G>C (p.Pro64=) n.424G>C n.257G>C | |
16 | g.177121G= | CA2200883117 | HBA1 | c.288G= (p.Pro96=) c.192G= (p.Pro64=) n.424G= n.257G= | |
16 | g.177121G>T | CA492994727 | HBA1 | c.288G>T (p.Pro96=) c.192G>T (p.Pro64=) n.424G>T n.257G>T | gnomAD v4 |
16 | g.177122G>A | CA7770252 | HBA1 | c.289G>A (p.Val97Ile) c.193G>A (p.Val65Ile) n.425G>A n.258G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.177122G>C | CA276417031 | HBA1 | c.289G>C (p.Val97Leu) c.193G>C (p.Val65Leu) n.425G>C n.258G>C | dbSNP gnomAD v4 |
16 | g.177122G= | CA2200883118 | HBA1 | c.289G= (p.Val97=) c.193G= (p.Val65=) n.425G= n.258G= | |
16 | g.177122G>T | CA393995618 | HBA1 | c.289G>T (p.Val97Phe) c.193G>T (p.Val65Phe) n.425G>T n.258G>T | |
16 | g.177123T>A | CA393995624 | HBA1 | c.290T>A (p.Val97Asp) c.194T>A (p.Val65Asp) n.426T>A n.259T>A | |
16 | g.177123T>C | CA393995621 | HBA1 | c.290T>C (p.Val97Ala) c.194T>C (p.Val65Ala) n.426T>C n.259T>C | |
16 | g.177123T>G | CA393995623 | HBA1 | c.290T>G (p.Val97Gly) c.194T>G (p.Val65Gly) n.426T>G n.259T>G | |
16 | g.177124C>A | CA492994731 | HBA1 | c.291C>A (p.Val97=) c.195C>A (p.Val65=) n.427C>A n.260C>A | gnomAD v4 |
16 | g.177124C>G | CA492994732 | HBA1 | c.291C>G (p.Val97=) c.195C>G (p.Val65=) n.427C>G n.260C>G | |
16 | g.177124C>T | CA492994733 | HBA1 | c.291C>T (p.Val97=) c.195C>T (p.Val65=) n.427C>T n.260C>T | |
16 | g.177125A= | CA2200883119 | HBA1 | c.292A= (p.Asn98=) c.196A= (p.Asn66=) n.428A= n.261A= | |
16 | g.177125A>C | CA125989 | HBA1 | c.292A>C (p.Asn98His) c.196A>C (p.Asn66His) n.428A>C n.261A>C | ClinVar dbSNP |
16 | g.177125A>G | CA393995626 | HBA1 | c.292A>G (p.Asn98Asp) c.196A>G (p.Asn66Asp) n.428A>G n.261A>G | |
16 | g.177125A>T | CA393995628 | HBA1 | c.292A>T (p.Asn98Tyr) c.196A>T (p.Asn66Tyr) n.428A>T n.261A>T | |
16 | g.177126A>C | CA393995633 | HBA1 | c.293A>C (p.Asn98Thr) c.197A>C (p.Asn66Thr) n.429A>C n.262A>C | gnomAD v4 |
16 | g.177126A>G | CA393995639 | HBA1 | c.293A>G (p.Asn98Ser) c.197A>G (p.Asn66Ser) n.429A>G n.262A>G | |
16 | g.177126A>T | CA393995640 | HBA1 | c.293A>T (p.Asn98Ile) c.197A>T (p.Asn66Ile) n.429A>T n.262A>T | |
16 | g.177127C>A | CA393995643 | HBA1 | c.294C>A (p.Asn98Lys) c.198C>A (p.Asn66Lys) n.430C>A n.263C>A | gnomAD v4 |
16 | g.177127C>G | CA393995645 | HBA1 | c.294C>G (p.Asn98Lys) c.198C>G (p.Asn66Lys) n.430C>G n.263C>G | |
16 | g.177127C>T | CA492994737 | HBA1 | c.294C>T (p.Asn98=) c.198C>T (p.Asn66=) n.430C>T n.263C>T | |
16 | g.177128T>A | CA393995648 | HBA1 | c.295T>A (p.Phe99Ile) c.199T>A (p.Phe67Ile) n.431T>A n.264T>A | |
16 | g.177128T>C | CA393995650 | HBA1 | c.295T>C (p.Phe99Leu) c.199T>C (p.Phe67Leu) n.431T>C n.264T>C | |
16 | g.177128T>G | CA393995653 | HBA1 | c.295T>G (p.Phe99Val) c.199T>G (p.Phe67Val) n.431T>G n.264T>G | |
16 | g.177129T>A | CA276417034 | HBA1 | c.296T>A (p.Phe99Tyr) c.200T>A (p.Phe67Tyr) n.432T>A n.265T>A | ClinVar dbSNP |
16 | g.177129T>C | CA393995669 | HBA1 | c.296T>C (p.Phe99Ser) c.200T>C (p.Phe67Ser) n.432T>C n.265T>C | gnomAD v4 |
16 | g.177129T>G | CA393995667 | HBA1 | c.296T>G (p.Phe99Cys) c.200T>G (p.Phe67Cys) n.432T>G n.265T>G | |
16 | g.177129T= | CA2200883120 | HBA1 | c.296T= (p.Phe99=) c.200T= (p.Phe67=) n.432T= n.265T= | |
16 | g.177130C>A | CA393995672 | HBA1 | c.297C>A (p.Phe99Leu) c.201C>A (p.Phe67Leu) n.433C>A n.266C>A | dbSNP gnomAD v4 |
16 | g.177130C= | CA2200883121 | HBA1 | c.297C= (p.Phe99=) c.201C= (p.Phe67=) n.433C= n.266C= | |
16 | g.177130C>G | CA393995673 | HBA1 | c.297C>G (p.Phe99Leu) c.201C>G (p.Phe67Leu) n.433C>G n.266C>G | gnomAD v4 COSMIC |
16 | g.177130C>T | CA492994744 | HBA1 | c.297C>T (p.Phe99=) c.201C>T (p.Phe67=) n.433C>T n.266C>T | |
16 | g.177131A= | CA2200883122 | HBA1 | c.298A= (p.Lys100=) c.202A= (p.Lys68=) n.434A= n.267A= | |
16 | g.177131A>C | CA393995677 | HBA1 | c.298A>C (p.Lys100Gln) c.202A>C (p.Lys68Gln) n.434A>C n.267A>C | |
16 | g.177131A>G | CA125943 | HBA1 | c.298A>G (p.Lys100Glu) c.202A>G (p.Lys68Glu) n.434A>G n.267A>G | ClinVar dbSNP |
16 | g.177131A>T | CA393995679 | HBA1 | c.298A>T (p.Lys100Ter) c.202A>T (p.Lys68Ter) n.434A>T n.267A>T | gnomAD v4 |
16 | g.177132del | CA2630739929 | HBA1 | c.299del (p.Lys100SerfsTer3) c.203del (p.Lys68SerfsTer3) n.435del n.268del | gnomAD v4 |
16 | g.177132A= | CA2200883123 | HBA1 | c.299A= (p.Lys100=) c.203A= (p.Lys68=) n.435A= n.268A= |