| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.171847_181556del | CA916083461 | ClinVar | ||
| 16 | g.172001_181401del | CA916083462 | ClinVar | ||
| 16 | g.177149_177753delinsAAGTAGA | CA915940715 | |||
| 16 | g.177280C>A | CA276417103 | HBA1 | c.301-3C>A (n.301-3C>A) c.205-3C>A (n.205-3C>A) n.437-3C>A | dbSNP gnomAD v4 |
| 16 | g.177280C= | CA2200883230 | HBA1 | c.301-3C= (n.301-3C=) c.205-3C= (n.205-3C=) n.437-3C= | |
| 16 | g.177280C>G | CA2695221235 | HBA1 | c.301-3C>G (n.301-3C>G) c.205-3C>G (n.205-3C>G) n.437-3C>G | |
| 16 | g.177280dup | CA919635960 | HBA1 | c.301-3dup (n.301-3dup) c.205-3dup (n.205-3dup) n.437-3dup | dbSNP gnomAD v4 |
| 16 | g.177281A>C | CA393995730 | HBA1 | c.301-2A>C (n.301-2A>C) c.205-2A>C (n.205-2A>C) n.437-2A>C | |
| 16 | g.177281A>G | CA393995732 | HBA1 | c.301-2A>G (n.301-2A>G) c.205-2A>G (n.205-2A>G) n.437-2A>G | gnomAD v4 |
| 16 | g.177281A>T | CA393995733 | HBA1 | c.301-2A>T (n.301-2A>T) c.205-2A>T (n.205-2A>T) n.437-2A>T | |
| 16 | g.177282G>A | CA393995735 | HBA1 | c.301-1G>A (n.301-1G>A) c.205-1G>A (n.205-1G>A) n.437-1G>A | gnomAD v4 |
| 16 | g.177282G>C | CA393995737 | HBA1 | c.301-1G>C (n.301-1G>C) c.205-1G>C (n.205-1G>C) n.437-1G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177282G= | CA2200883231 | HBA1 | c.301-1G= (n.301-1G=) c.205-1G= (n.205-1G=) n.437-1G= | |
| 16 | g.177282G>T | CA393995739 | HBA1 | c.301-1G>T (n.301-1G>T) c.205-1G>T (n.205-1G>T) n.437-1G>T | |
| 16 | g.177283C>A | CA393995744 | HBA1 | c.301C>A (p.Leu101Ile) c.205C>A (p.Leu69Ile) n.437C>A | |
| 16 | g.177283C= | CA2200883232 | HBA1 | c.301C= (p.Leu101=) c.205C= (p.Leu69=) n.437C= | |
| 16 | g.177283C>G | CA393995740 | HBA1 | c.301C>G (p.Leu101Val) c.205C>G (p.Leu69Val) n.437C>G | |
| 16 | g.177283C>T | CA393995742 | HBA1 | c.301C>T (p.Leu101Phe) c.205C>T (p.Leu69Phe) n.437C>T | dbSNP gnomAD v4 |
| 16 | g.177284T>A | CA393995745 | HBA1 | c.302T>A (p.Leu101His) c.206T>A (p.Leu69His) n.438T>A | |
| 16 | g.177284T>C | CA393995747 | HBA1 | c.302T>C (p.Leu101Pro) c.206T>C (p.Leu69Pro) n.438T>C | |
| 16 | g.177284T>G | CA393995748 | HBA1 | c.302T>G (p.Leu101Arg) c.206T>G (p.Leu69Arg) n.438T>G | |
| 16 | g.177285C>A | CA492994371 | HBA1 | c.303C>A (p.Leu101=) c.207C>A (p.Leu69=) n.439C>A | |
| 16 | g.177285C= | CA2200883233 | HBA1 | c.303C= (p.Leu101=) c.207C= (p.Leu69=) n.439C= | |
| 16 | g.177285C>G | CA492994369 | HBA1 | c.303C>G (p.Leu101=) c.207C>G (p.Leu69=) n.439C>G | |
| 16 | g.177285C>T | CA492994370 | HBA1 | c.303C>T (p.Leu101=) c.207C>T (p.Leu69=) n.439C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177285_177286insTGCA | CA2630740067 | HBA1 | c.303_304insTGCA (p.Leu102CysfsTer?) c.207_208insTGCA (p.Leu70CysfsTer?) n.439_440insTGCA | gnomAD v4 |
| 16 | g.177286C>A | CA393995750 | HBA1 | c.304C>A (p.Leu102Ile) c.208C>A (p.Leu70Ile) n.440C>A | |
| 16 | g.177286C>G | CA393995751 | HBA1 | c.304C>G (p.Leu102Val) c.208C>G (p.Leu70Val) n.440C>G | gnomAD v4 |
| 16 | g.177286C>T | CA492994372 | HBA1 | c.304C>T (p.Leu102=) c.208C>T (p.Leu70=) n.440C>T | gnomAD v4 |
| 16 | g.177287T>A | CA393995754 | HBA1 | c.305T>A (p.Leu102Gln) c.209T>A (p.Leu70Gln) n.441T>A | |
| 16 | g.177287T>C | CA393995755 | HBA1 | c.305T>C (p.Leu102Pro) c.209T>C (p.Leu70Pro) n.441T>C | |
| 16 | g.177287T>G | CA393995756 | HBA1 | c.305T>G (p.Leu102Arg) c.209T>G (p.Leu70Arg) n.441T>G | |
| 16 | g.177287_177288del | CA2630740071 | HBA1 | c.305_306del (p.Leu102GlnfsTer?) c.209_210del (p.Leu70GlnfsTer?) n.441_442del | gnomAD v4 |
| 16 | g.177288A>C | CA492994373 | HBA1 | c.306A>C (p.Leu102=) c.210A>C (p.Leu70=) n.442A>C | |
| 16 | g.177288A>G | CA492994374 | HBA1 | c.306A>G (p.Leu102=) c.210A>G (p.Leu70=) n.442A>G | |
| 16 | g.177288A>T | CA492994375 | HBA1 | c.306A>T (p.Leu102=) c.210A>T (p.Leu70=) n.442A>T | |
| 16 | g.177289A>C | CA393995758 | HBA1 | c.307A>C (p.Ser103Arg) c.211A>C (p.Ser71Arg) n.443A>C | |
| 16 | g.177289A>G | CA393995760 | HBA1 | c.307A>G (p.Ser103Gly) c.211A>G (p.Ser71Gly) n.443A>G | |
| 16 | g.177289A>T | CA393995762 | HBA1 | c.307A>T (p.Ser103Cys) c.211A>T (p.Ser71Cys) n.443A>T | |
| 16 | g.177290G>A | CA393995765 | HBA1 | c.308G>A (p.Ser103Asn) c.212G>A (p.Ser71Asn) n.444G>A | |
| 16 | g.177290G>C | CA393995767 | HBA1 | c.308G>C (p.Ser103Thr) c.212G>C (p.Ser71Thr) n.444G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177290G= | CA2200883234 | HBA1 | c.308G= (p.Ser103=) c.212G= (p.Ser71=) n.444G= | |
| 16 | g.177290G>T | CA393995764 | HBA1 | c.308G>T (p.Ser103Ile) c.212G>T (p.Ser71Ile) n.444G>T | |
| 16 | g.177291C>A | CA276417106 | HBA1 | c.309C>A (p.Ser103Arg) c.213C>A (p.Ser71Arg) n.445C>A | ClinVar dbSNP |
| 16 | g.177291C= | CA2200883235 | HBA1 | c.309C= (p.Ser103=) c.213C= (p.Ser71=) n.445C= | |
| 16 | g.177291C>G | CA393995769 | HBA1 | c.309C>G (p.Ser103Arg) c.213C>G (p.Ser71Arg) n.445C>G | |
| 16 | g.177291C>T | CA492994376 | HBA1 | c.309C>T (p.Ser103=) c.213C>T (p.Ser71=) n.445C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.177291_177292insTCCTT | CA2630740077 | HBA1 | c.309_310insTCCTT (p.His104SerfsTer7) c.213_214insTCCTT (p.His72SerfsTer7) n.445_446insTCCTT | gnomAD v4 |
| 16 | g.177292C>A | CA393995772 | HBA1 | c.310C>A (p.His104Asn) c.214C>A (p.His72Asn) n.446C>A | |
| 16 | g.177292C= | CA2200883236 | HBA1 | c.310C= (p.His104=) c.214C= (p.His72=) n.446C= |