| 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.177390_177397del | CA2575852733 | HBA1 | c.408_415del (p.Leu137GlnfsTer?) c.312_319del (p.Leu105GlnfsTer?) n.544_551del | |
| 16 | g.177397T>A | CA393996027 | HBA1 | c.415T>A (p.Ser139Thr) c.319T>A (p.Ser107Thr) n.551T>A | |
| 16 | g.177397T>C | CA125678 | HBA1 | c.415T>C (p.Ser139Pro) c.319T>C (p.Ser107Pro) n.551T>C | ClinVar dbSNP |
| 16 | g.177397T>G | CA393996028 | HBA1 | c.415T>G (p.Ser139Ala) c.319T>G (p.Ser107Ala) n.551T>G | dbSNP |
| 16 | g.177397T= | CA2200883320 | HBA1 | c.415T= (p.Ser139=) c.319T= (p.Ser107=) n.551T= | |
| 16 | g.177398C>A | CA393996029 | HBA1 | c.416C>A (p.Ser139Tyr) c.320C>A (p.Ser107Tyr) n.552C>A | |
| 16 | g.177398C= | CA2200883321 | HBA1 | c.416C= (p.Ser139=) c.320C= (p.Ser107=) n.552C= | |
| 16 | g.177398C>G | CA276417290 | HBA1 | c.416C>G (p.Ser139Cys) c.320C>G (p.Ser107Cys) n.552C>G | ClinVar dbSNP |
| 16 | g.177398C>T | CA393996030 | HBA1 | c.416C>T (p.Ser139Phe) c.320C>T (p.Ser107Phe) n.552C>T | |
| 16 | g.177399C>A | CA492994502 | HBA1 | c.417C>A (p.Ser139=) c.321C>A (p.Ser107=) n.553C>A | dbSNP gnomAD v2 |
| 16 | g.177399C= | CA2200883323 | HBA1 | c.417C= (p.Ser139=) c.321C= (p.Ser107=) n.553C= | |
| 16 | g.177399C>G | CA276417292 | HBA1 | c.417C>G (p.Ser139=) c.321C>G (p.Ser107=) n.553C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.177399C>T | CA492994506 | HBA1 | c.417C>T (p.Ser139=) c.321C>T (p.Ser107=) n.553C>T | gnomAD v4 |
| 16 | g.177399_177400delinsCA | CA2200883322 | HBA1 | c.417_418delinsCA (p.Ser139=) c.321_322delinsCA (p.Ser107=) n.553_554delinsCA | |
| 16 | g.177400A= | CA2200883324 | HBA1 | c.418A= (p.Lys140=) c.322A= (p.Lys108=) n.554A= | |
| 16 | g.177400A>C | CA393996031 | HBA1 | c.418A>C (p.Lys140Gln) c.322A>C (p.Lys108Gln) n.554A>C | gnomAD v4 |
| 16 | g.177400A>G | CA276417300 | HBA1 | c.418A>G (p.Lys140Glu) c.322A>G (p.Lys108Glu) n.554A>G | dbSNP |
| 16 | g.177400A>T | CA393996032 | HBA1 | c.418A>T (p.Lys140Ter) c.322A>T (p.Lys108Ter) n.554A>T | |
| 16 | g.177402del | CA276417297 | HBA1 | c.420del (p.Lys140AsnfsTer?) c.324del (p.Lys108AsnfsTer?) n.556del | dbSNP |
| 16 | g.177401A= | CA2200883325 | HBA1 | c.419A= (p.Lys140=) c.323A= (p.Lys108=) n.555A= | |
| 16 | g.177401A>C | CA125909 | HBA1 | c.419A>C (p.Lys140Thr) c.323A>C (p.Lys108Thr) n.555A>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.177401A>G | CA393996033 | HBA1 | c.419A>G (p.Lys140Arg) c.323A>G (p.Lys108Arg) n.555A>G | |
| 16 | g.177401A>T | CA393996034 | HBA1 | c.419A>T (p.Lys140Ile) c.323A>T (p.Lys108Ile) n.555A>T | |
| 16 | g.177402A>C | CA393996035 | HBA1 | c.420A>C (p.Lys140Asn) c.324A>C (p.Lys108Asn) n.556A>C | gnomAD v4 |
| 16 | g.177402A>G | CA492994510 | HBA1 | c.420A>G (p.Lys140=) c.324A>G (p.Lys108=) n.556A>G | |
| 16 | g.177402A>T | CA393996036 | HBA1 | c.420A>T (p.Lys140Asn) c.324A>T (p.Lys108Asn) n.556A>T | |
| 16 | g.177403T>A | CA393996037 | HBA1 | c.421T>A (p.Tyr141Asn) c.325T>A (p.Tyr109Asn) n.557T>A | |
| 16 | g.177403T>C | CA125961 | HBA1 | c.421T>C (p.Tyr141His) c.325T>C (p.Tyr109His) n.557T>C | ClinVar dbSNP |
| 16 | g.177403T>G | CA393996038 | HBA1 | c.421T>G (p.Tyr141Asp) c.325T>G (p.Tyr109Asp) n.557T>G | |
| 16 | g.177403T= | CA2200883326 | HBA1 | c.421T= (p.Tyr141=) c.325T= (p.Tyr109=) n.557T= | |
| 16 | g.177404A>C | CA393996176 | HBA1 | c.422A>C (p.Tyr141Ser) c.326A>C (p.Tyr109Ser) n.558A>C | |
| 16 | g.177404A>G | CA393996181 | HBA1 | c.422A>G (p.Tyr141Cys) c.326A>G (p.Tyr109Cys) n.558A>G | |
| 16 | g.177404A>T | CA393996183 | HBA1 | c.422A>T (p.Tyr141Phe) c.326A>T (p.Tyr109Phe) n.558A>T | |
| 16 | g.177405C>A | CA393996185 | HBA1 | c.423C>A (p.Tyr141Ter) c.327C>A (p.Tyr109Ter) n.559C>A | |
| 16 | g.177405C>G | CA393996188 | HBA1 | c.423C>G (p.Tyr141Ter) c.327C>G (p.Tyr109Ter) n.559C>G | |
| 16 | g.177405C>T | CA492787333 | HBA1 | c.423C>T (p.Tyr141=) c.327C>T (p.Tyr109=) n.559C>T | gnomAD v4 |
| 16 | g.177405_177408delinsCCGT | CA2200883327 | HBA1 | c.423_426delinsCCGT (p.Tyr141=) c.327_330delinsCCGT (p.Tyr109=) n.559_562delinsCCGT | |
| 16 | g.177406C>A | CA125773 | HBA1 | c.424C>A (p.Arg142Ser) c.328C>A (p.Arg110Ser) n.560C>A | ClinVar dbSNP |
| 16 | g.177406C= | CA2200883328 | HBA1 | c.424C= (p.Arg142=) c.328C= (p.Arg110=) n.560C= | |
| 16 | g.177406C>G | CA125769 | HBA1 | c.424C>G (p.Arg142Gly) c.328C>G (p.Arg110Gly) n.560C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.177406C>T | CA125845 | HBA1 | c.424C>T (p.Arg142Cys) c.328C>T (p.Arg110Cys) n.560C>T | ClinVar dbSNP |
| 16 | g.177406_177408del | CA125803 | HBA1 | c.424_426del (p.Arg142del) c.328_330del (p.Arg110del) n.560_562del | ClinVar dbSNP |
| 16 | g.177407G>A | CA125901 | HBA1 | c.425G>A (p.Arg142His) c.329G>A (p.Arg110His) n.561G>A | ClinVar dbSNP |
| 16 | g.177407G>C | CA125889 | HBA1 | c.425G>C (p.Arg142Pro) c.329G>C (p.Arg110Pro) n.561G>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.177407G= | CA2200883329 | HBA1 | c.425G= (p.Arg142=) c.329G= (p.Arg110=) n.561G= | |
| 16 | g.177407G>T | CA125809 | HBA1 | c.425G>T (p.Arg142Leu) c.329G>T (p.Arg110Leu) n.561G>T | ClinVar dbSNP |
| 16 | g.177408T>A | CA492787335 | HBA1 | c.426T>A (p.Arg142=) c.330T>A (p.Arg110=) n.562T>A |