| 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.173586T>A | CA393994671 | HBA2 | c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A | |
| 16 | g.173586T>C | CA276415526 | HBA2 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | dbSNP |
| 16 | g.173586T>G | CA393994672 | HBA2 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | |
| 16 | g.173586T= | CA2200880974 | HBA2 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | |
| 16 | g.173587C>A | CA393994674 | HBA2 | c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A | |
| 16 | g.173587C= | CA2200880975 | HBA2 | c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C= | |
| 16 | g.173587C>G | CA393994676 | HBA2 | c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G | COSMIC |
| 16 | g.173587C>T | CA276415530 | HBA2 | c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T | dbSNP |
| 16 | g.173588C>A | CA7770187 | HBA2 | c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173588C= | CA2200880977 | HBA2 | c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C= | |
| 16 | g.173588C>G | CA492785617 | HBA2 | c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G | |
| 16 | g.173588C>T | CA492785618 | HBA2 | c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T | |
| 16 | g.173588_173589delinsCA | CA2200880976 | HBA2 | c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA | |
| 16 | g.173589A= | CA2200880978 | HBA2 | c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A= | |
| 16 | g.173589A>C | CA393994678 | HBA2 | c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C | gnomAD v4 |
| 16 | g.173589A>G | CA125584 | HBA2 | c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G | ClinVar dbSNP |
| 16 | g.173589A>T | CA393994680 | HBA2 | c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T | |
| 16 | g.173591del | CA125556 | HBA2 | c.420del (p.Lys140AsnfsTer9) c.324del (p.Lys108AsnfsTer9) n.556del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173590A= | CA2200880979 | HBA2 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
| 16 | g.173590A>C | CA276415543 | HBA2 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | dbSNP gnomAD v4 |
| 16 | g.173590A>G | CA393994681 | HBA2 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
| 16 | g.173590A>T | CA393994682 | HBA2 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
| 16 | g.173590_173591insT | CA1139664213 | HBA2 | c.419_420insT (p.Lys140AsnfsTer?) c.323_324insT (p.Lys108AsnfsTer?) n.555_556insT | ClinVar dbSNP |
| 16 | g.173591A= | CA2200880980 | HBA2 | c.420A= (p.Lys140=) c.324A= (p.Lys108=) n.556A= | |
| 16 | g.173591A>C | CA125644 | HBA2 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.173591A>G | CA492785641 | HBA2 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
| 16 | g.173591A>T | CA393994683 | HBA2 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
| 16 | g.173592T>A | CA393994684 | HBA2 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
| 16 | g.173592T>C | CA276415549 | HBA2 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.173592T>G | CA393994685 | HBA2 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
| 16 | g.173592T= | CA2200880981 | HBA2 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
| 16 | g.173593A>C | CA393994686 | HBA2 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | gnomAD v4 |
| 16 | g.173593A>G | CA393994687 | HBA2 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
| 16 | g.173593A>T | CA393994688 | HBA2 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
| 16 | g.173594C>A | CA125604 | HBA2 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | ClinVar dbSNP |
| 16 | g.173594C= | CA2200880982 | HBA2 | c.423C= (p.Tyr141=) c.327C= (p.Tyr109=) n.559C= | |
| 16 | g.173594C>G | CA393994689 | HBA2 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
| 16 | g.173594C>T | CA492785652 | HBA2 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | |
| 16 | g.173595C>A | CA276415556 | HBA2 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | dbSNP |
| 16 | g.173595C= | CA2200880983 | HBA2 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
| 16 | g.173595C>G | CA276415558 | HBA2 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | dbSNP |
| 16 | g.173595C>T | CA276415566 | HBA2 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | dbSNP |
| 16 | g.173596G>A | CA7770188 | HBA2 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.173596G>C | CA276415569 | HBA2 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | dbSNP |
| 16 | g.173596G= | CA2200880984 | HBA2 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
| 16 | g.173596G>T | CA276415575 | HBA2 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | dbSNP |