UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5218346_5226066del | CA916083167 | ClinVar | ||
| 11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
| 11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
| 11 | g.5225255_5225875delinsCCTTTTCTGAGGGATGAATAAGGCATATGCATCAGGGGCTGTTGCCAATGTGCATTAGCTGTTTGCAGCCTCACCTTCTTTCATGGAGTTTAAGATATAGTGTATTTTCCCAAGGTTTGAACTAGCTCTTCATTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563432 | |||
| 11 | g.5225256_5225874delinsAAGTAG | CA658820845 | |||
| 11 | g.5225256_5225874delinsTCTACTT | CA923726280 | |||
| 11 | g.5225256_5225875delinsTCTACCT | CA915940749 | |||
| 11 | g.5225256_5225875delinsTCTACTT | CA915940716 | ClinVar dbSNP | ||
| 11 | g.5225388_5226007delinsTTCTTTATGTTTTAAATGCACTGACCTCCCACATTCCCTTTTTAGTAAAATATTCAGAAATAATTTAAATACATCATTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCAGTTACAATTTATATGCAGAAATATTTATATGCAGAGATATTGCTATTGCCTTAACCCAGAAATTATCACTGTTATTCTTTAGAATGGTGCAAAGAGGCATGATACATTGTATCATTATTGCCCTGAAAGAAA | CA1949563581 | |||
| 11 | g.5225389_5226007del | CA916083169 | ClinVar dbSNP | ||
| 11 | g.5225465_5225726delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949563653 | HBB | c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA (n.[c.316_*133delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA;Leu106=]) | |
| 11 | g.5225465_5225875delinsTGCAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAGCTGTGGGAGGAAGATAAGAGGTATGAACATGATTAGCAAAAGGGCCTAGCTTGGACTCAGAATAATCCAGCCTTATCCCAACCATAAAATAAAAGCAGAATGGTAGCTGGATTGTAGCTGCTATTAGCAATATGAAACCTCTTACATCA | CA1949563650 | HBB | c.316-149_*133delinsTGATGTAAGAGGTTTCATATTGCTAATAGCAGCTACAATCCAGCTACCATTCTGCTTTTATTTTATGGTTGGGATAAGGCTGGATTATTCTGAGTCCAAGCTAGGCCCTTTTGCTAATCATGTTCATACCTCTTATCTTCCTCCCACAGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAGCTCGCTTTCTTGCTGTCCAATTTCTATTAAAGGTTCCTTTGTTCCCTAAGTCCAACTACTAAACTGGGGGATATTATGAAGGGCCTTGAGCATCTGGATTCTGCCTAATAAAAAACATTTATTTTCATTGCA | |
| 11 | g.5225466_5225726del | CA916083170 | HBB | c.316_*132del (n.[c.316_*132del;Leu106=]) | ClinVar dbSNP |
| 11 | g.5225467_5225876del | CA915947982 | HBB | c.316-149_*132del | ClinVar dbSNP |
| 11 | g.5225531del | CA2574735556 | HBB | c.*71del (n.*71del) c.*331del (n.*331del) | |
| 11 | g.5225531C>A | CA658683670 | HBB | c.*67G>T (n.*67G>T) c.*327G>T (n.*327G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225531C= | CA1949563839 | HBB | c.*67G= (n.*67G=) c.*327G= (n.*327G=) | |
| 11 | g.5225531C>G | CA2612162203 | HBB | c.*67G>C (n.*67G>C) c.*327G>C (n.*327G>C) | gnomAD v4 |
| 11 | g.5225531C>T | CA2612162204 | HBB | c.*67G>A (n.*67G>A) c.*327G>A (n.*327G>A) | dbSNP gnomAD v4 |
| 11 | g.5225532A>G | CA2612162205 | HBB | c.*66T>C (n.*66T>C) c.*326T>C (n.*326T>C) | gnomAD v4 |
| 11 | g.5225533G>A | CA2612162206 | HBB | c.*65C>T (n.*65C>T) c.*325C>T (n.*325C>T) | gnomAD v4 |
| 11 | g.5225533G>C | CA597217421 | HBB | c.*65C>G (n.*65C>G) c.*325C>G (n.*325C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225533G= | CA1949563848 | HBB | c.*65C= (n.*65C=) c.*325C= (n.*325C=) | |
| 11 | g.5225533G>T | CA2612162207 | HBB | c.*65C>A (n.*65C>A) c.*325C>A (n.*325C>A) | gnomAD v4 |
| 11 | g.5225536dup | CA2612162208 | HBB | c.*64dup (n.*64dup) c.*324dup (n.*324dup) | gnomAD v4 |
| 11 | g.5225536T>C | CA217112121 | HBB | c.*62A>G (n.*62A>G) c.*322A>G (n.*322A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225536T>G | CA2574735557 | HBB | c.*62A>C (n.*62A>C) c.*322A>C (n.*322A>C) | |
| 11 | g.5225536T= | CA1949563857 | HBB | c.*62A= (n.*62A=) c.*322A= (n.*322A=) | |
| 11 | g.5225537A>C | CA2612162211 | HBB | c.*61T>G (n.*61T>G) c.*321T>G (n.*321T>G) | gnomAD v4 |
| 11 | g.5225537A>G | CA2612162212 | HBB | c.*61T>C (n.*61T>C) c.*321T>C (n.*321T>C) | gnomAD v4 |
| 11 | g.5225537_5225541del | CA2612162210 | HBB | c.*57_*61del (n.*57_*61del) c.*317_*321del (n.*317_*321del) | gnomAD v4 |
| 11 | g.5225538G>T | CA2612162213 | HBB | c.*60C>A (n.*60C>A) c.*320C>A (n.*320C>A) | gnomAD v4 |
| 11 | g.5225539del | CA2612162214 | HBB | c.*59del (n.*59del) c.*319del (n.*319del) | gnomAD v4 |
| 11 | g.5225539T>C | CA677551598 | HBB | c.*59A>G (n.*59A>G) c.*319A>G (n.*319A>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225539T= | CA1949563866 | HBB | c.*59A= (n.*59A=) c.*319A= (n.*319A=) | |
| 11 | g.5225540A>C | CA2612162217 | HBB | c.*58T>G (n.*58T>G) c.*318T>G (n.*318T>G) | gnomAD v4 |
| 11 | g.5225540A>T | CA2612162218 | HBB | c.*58T>A (n.*58T>A) c.*318T>A (n.*318T>A) | gnomAD v4 |
| 11 | g.5225541G>C | CA677551602 | HBB | c.*57C>G (n.*57C>G) c.*317C>G (n.*317C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225541G= | CA1949563872 | HBB | c.*57C= (n.*57C=) c.*317C= (n.*317C=) | |
| 11 | g.5225541G>T | CA2574735558 | HBB | c.*57C>A (n.*57C>A) c.*317C>A (n.*317C>A) | gnomAD v4 |
| 11 | g.5225542T>A | CA10635064 | HBB | c.*56A>T (n.*56A>T) c.*316A>T (n.*316A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225542T>C | CA217112125 | HBB | c.*56A>G (n.*56A>G) c.*316A>G (n.*316A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225542T= | CA1949563887 | HBB | c.*56A= (n.*56A=) c.*316A= (n.*316A=) | |
| 11 | g.5225543T>C | CA2612162222 | HBB | c.*55A>G (n.*55A>G) c.*315A>G (n.*315A>G) | gnomAD v4 |
| 11 | g.5225544G>C | CA2612162226 | HBB | c.*54C>G (n.*54C>G) c.*314C>G (n.*314C>G) | gnomAD v4 |
| 11 | g.5225544G>T | CA2574735559 | HBB | c.*54C>A (n.*54C>A) c.*314C>A (n.*314C>A) | gnomAD v4 |
| 11 | g.5225545G>A | CA2612162228 | HBB | c.*53C>T (n.*53C>T) c.*313C>T (n.*313C>T) | gnomAD v4 |
| 11 | g.5225545G= | CA1949563891 | HBB | c.*53C= (n.*53C=) c.*313C= (n.*313C=) | |
| 11 | g.5225545G>T | CA10639375 | HBB | c.*53C>A (n.*53C>A) c.*313C>A (n.*313C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225546_5225555del | CA2790275080 | HBB | c.*43_*52del (n.*43_*52del) c.*303_*312del (n.*303_*312del) | |
| 11 | g.5225547C= | CA1949563894 | HBB | c.*51G= (n.*51G=) c.*311G= (n.*311G=) | |
| 11 | g.5225547C>T | CA597217423 | HBB | c.*51G>A (n.*51G>A) c.*311G>A (n.*311G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225548T>C | CA5839676 | HBB | c.*50A>G (n.*50A>G) c.*310A>G (n.*310A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225548T= | CA1949563895 | HBB | c.*50A= (n.*50A=) c.*310A= (n.*310A=) | |
| 11 | g.5225549T>C | CA2612162231 | HBB | c.*49A>G (n.*49A>G) c.*309A>G (n.*309A>G) | gnomAD v4 |
| 11 | g.5225550A= | CA1949563900 | HBB | c.*48T= (n.*48T=) c.*308T= (n.*308T=) | |
| 11 | g.5225550A>G | CA5839677 | HBB | c.*48T>C (n.*48T>C) c.*308T>C (n.*308T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225551G>A | CA597217426 | HBB | c.*47C>T (n.*47C>T) c.*307C>T (n.*307C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225551G>C | CA1949563917 | HBB | c.*47C>G (n.*47C>G) c.*307C>G (n.*307C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225551G= | CA1949563907 | HBB | c.*47C= (n.*47C=) c.*307C= (n.*307C=) | |
| 11 | g.5225552_5225553insT | CA653938545 | HBB | c.*45_*46insA (n.*45_*46insA) c.*305_*306insA (n.*305_*306insA) | COSMIC |
| 11 | g.5225553G>A | CA2612162234 | HBB | c.*45C>T (n.*45C>T) c.*305C>T (n.*305C>T) | gnomAD v4 |
| 11 | g.5225553G>T | CA2574735560 | HBB | c.*45C>A (n.*45C>A) c.*305C>A (n.*305C>A) | gnomAD v4 |
| 11 | g.5225554A>G | CA2612162235 | HBB | c.*44T>C (n.*44T>C) c.*304T>C (n.*304T>C) | gnomAD v4 |
| 11 | g.5225555A= | CA1949563920 | HBB | c.*43T= (n.*43T=) c.*303T= (n.*303T=) | |
| 11 | g.5225555A>G | CA597217427 | HBB | c.*43T>C (n.*43T>C) c.*303T>C (n.*303T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225556C>A | CA934687304 | HBB | c.*42G>T (n.*42G>T) c.*302G>T (n.*302G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225556C= | CA1949563921 | HBB | c.*42G= (n.*42G=) c.*302G= (n.*302G=) | |
| 11 | g.5225556C>T | CA2612162236 | HBB | c.*42G>A (n.*42G>A) c.*302G>A (n.*302G>A) | gnomAD v4 |
| 11 | g.5225558A>C | CA2612162237 | HBB | c.*40T>G (n.*40T>G) c.*300T>G (n.*300T>G) | gnomAD v4 |
| 11 | g.5225558A>G | CA2790275083 | HBB | c.*40T>C (n.*40T>C) c.*300T>C (n.*300T>C) | |
| 11 | g.5225559A= | CA1949563922 | HBB | c.*39T= (n.*39T=) c.*299T= (n.*299T=) | |
| 11 | g.5225559A>G | CA2612162238 | HBB | c.*39T>C (n.*39T>C) c.*299T>C (n.*299T>C) | gnomAD v4 |
| 11 | g.5225559A>T | CA1949563923 | HBB | c.*39T>A (n.*39T>A) c.*299T>A (n.*299T>A) | dbSNP |
| 11 | g.5225561G>C | CA217112147 | HBB | c.*37C>G (n.*37C>G) c.*297C>G (n.*297C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225561G= | CA1949563925 | HBB | c.*37C= (n.*37C=) c.*297C= (n.*297C=) | |
| 11 | g.5225562_5225572del | CA2790275084 | HBB | c.*26_*36del (n.*26_*36del) c.*286_*296del (n.*286_*296del) | |
| 11 | g.5225563A>G | CA2612162239 | HBB | c.*35T>C (n.*35T>C) c.*295T>C (n.*295T>C) | gnomAD v4 |
| 11 | g.5225564C>A | CA2574735562 | HBB | c.*34G>T (n.*34G>T) c.*294G>T (n.*294G>T) | gnomAD v4 |
| 11 | g.5225564C= | CA1949563927 | HBB | c.*34G= (n.*34G=) c.*294G= (n.*294G=) | |
| 11 | g.5225564C>G | CA2574735561 | HBB | c.*34G>C (n.*34G>C) c.*294G>C (n.*294G>C) | |
| 11 | g.5225564C>T | CA5839678 | HBB | c.*34G>A (n.*34G>A) c.*294G>A (n.*294G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225565C>A | CA913190228 | HBB | c.*33G>T (n.*33G>T) c.*293G>T (n.*293G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225565C= | CA1949563929 | HBB | c.*33G= (n.*33G=) c.*293G= (n.*293G=) | |
| 11 | g.5225565C>G | CA597217428 | HBB | c.*33G>C (n.*33G>C) c.*293G>C (n.*293G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225566T>G | CA916083172 | HBB | c.*32A>C (n.*32A>C) c.*292A>C (n.*292A>C) | ClinVar dbSNP |
| 11 | g.5225566T= | CA1949563935 | HBB | c.*32A= (n.*32A=) c.*292A= (n.*292A=) | |
| 11 | g.5225570A= | CA1949563945 | HBB | c.*28T= (n.*28T=) c.*288T= (n.*288T=) | |
| 11 | g.5225570A>C | CA1949563943 | HBB | c.*28T>G (n.*28T>G) c.*288T>G (n.*288T>G) | dbSNP gnomAD v4 |
| 11 | g.5225570A>G | CA1949563940 | HBB | c.*28T>C (n.*28T>C) c.*288T>C (n.*288T>C) | dbSNP |
| 11 | g.5225571T>C | CA5839679 | HBB | c.*27A>G (n.*27A>G) c.*287A>G (n.*287A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225571T= | CA1949563950 | HBB | c.*27A= (n.*27A=) c.*287A= (n.*287A=) | |
| 11 | g.5225573G>C | CA5839680 | HBB | c.*25C>G (n.*25C>G) c.*285C>G (n.*285C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225573G= | CA1949563956 | HBB | c.*25C= (n.*25C=) c.*285C= (n.*285C=) | |
| 11 | g.5225575A>G | CA2612162245 | HBB | c.*23T>C (n.*23T>C) c.*283T>C (n.*283T>C) | gnomAD v4 |
| 11 | g.5225576A>G | CA2612162246 | HBB | c.*22T>C (n.*22T>C) c.*282T>C (n.*282T>C) | gnomAD v4 |
| 11 | g.5225577T>C | CA2612162248 | HBB | c.*21A>G (n.*21A>G) c.*281A>G (n.*281A>G) | gnomAD v4 |
| 11 | g.5225578del | CA2612162247 | HBB | c.*21del (n.*21del) c.*281del (n.*281del) | gnomAD v4 |
| 11 | g.5225578T>A | CA2723119924 | HBB | c.*20A>T (n.*20A>T) c.*280A>T (n.*280A>T) | dbSNP |
| 11 | g.5225578T>G | CA1949563964 | HBB | c.*20A>C (n.*20A>C) c.*280A>C (n.*280A>C) | dbSNP |
| 11 | g.5225578T= | CA1949563962 | HBB | c.*20A= (n.*20A=) c.*280A= (n.*280A=) | |
| 11 | g.5225579G>C | CA913550879 | HBB | c.*19C>G (n.*19C>G) c.*279C>G (n.*279C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225579G= | CA1949563966 | HBB | c.*19C= (n.*19C=) c.*279C= (n.*279C=) | |
| 11 | g.5225580G= | CA1949563973 | HBB | c.*18C= (n.*18C=) c.*278C= (n.*278C=) | |
| 11 | g.5225580G>T | CA597217430 | HBB | c.*18C>A (n.*18C>A) c.*278C>A (n.*278C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225581A= | CA1949563977 | HBB | c.*17T= (n.*17T=) c.*277T= (n.*277T=) | |
| 11 | g.5225581A>G | CA597217431 | HBB | c.*17T>C (n.*17T>C) c.*277T>C (n.*277T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225582C>T | CA2580083904 | HBB | c.*16G>A (n.*16G>A) c.*276G>A (n.*276G>A) | ClinVar |
| 11 | g.5225584G>A | CA5839681 | HBB | c.*14C>T (n.*14C>T) c.*274C>T (n.*274C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225584G= | CA1949563979 | HBB | c.*14C= (n.*14C=) c.*274C= (n.*274C=) | |
| 11 | g.5225584G>T | CA597217432 | HBB | c.*14C>A (n.*14C>A) c.*274C>A (n.*274C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225585C>T | CA2612162250 | HBB | c.*13G>A (n.*13G>A) c.*273G>A (n.*273G>A) | gnomAD v4 |
| 11 | g.5225587A= | CA1949563982 | HBB | c.*11T= (n.*11T=) c.*271T= (n.*271T=) | |
| 11 | g.5225587A>G | CA5839682 | HBB | c.*11T>C (n.*11T>C) c.*271T>C (n.*271T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225588G>A | CA597217433 | HBB | c.*10C>T (n.*10C>T) c.*270C>T (n.*270C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225588G= | CA1949563987 | HBB | c.*10C= (n.*10C=) c.*270C= (n.*270C=) | |
| 11 | g.5225589A= | CA1949563989 | HBB | c.*9T= (n.*9T=) c.*269T= (n.*269T=) | |
| 11 | g.5225589A>G | CA5839683 | HBB | c.*9T>C (n.*9T>C) c.*269T>C (n.*269T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225590A>C | CA2612162251 | HBB | c.*8T>G (n.*8T>G) c.*268T>G (n.*268T>G) | gnomAD v4 |
| 11 | g.5225592G>A | CA597217434 | HBB | c.*6C>T (n.*6C>T) c.*266C>T (n.*266C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225592G>C | CA16609382 | HBB | c.*6C>G (n.*6C>G) c.*266C>G (n.*266C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225592G= | CA1949563998 | HBB | c.*6C= (n.*6C=) c.*266C= (n.*266C=) | |
| 11 | g.5225592G>T | CA677551653 | HBB | c.*6C>A (n.*6C>A) c.*266C>A (n.*266C>A) | dbSNP gnomAD v4 |
| 11 | g.5225593C>A | CA2612162253 | HBB | c.*5G>T (n.*5G>T) c.*265G>T (n.*265G>T) | gnomAD v4 |
| 11 | g.5225593C= | CA1949564011 | HBB | c.*5G= (n.*5G=) c.*265G= (n.*265G=) | |
| 11 | g.5225593C>G | CA2580083905 | HBB | c.*5G>C (n.*5G>C) c.*265G>C (n.*265G>C) | ClinVar |
| 11 | g.5225593C>T | CA5839684 | HBB | c.*5G>A (n.*5G>A) c.*265G>A (n.*265G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225594G>A | CA5839685 | HBB | c.*4C>T (n.*4C>T) c.*264C>T (n.*264C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225594G= | CA1949564017 | HBB | c.*4C= (n.*4C=) c.*264C= (n.*264C=) | |
| 11 | g.5225595A>G | CA2574735563 | HBB | c.*3T>C (n.*3T>C) c.*263T>C (n.*263T>C) | |
| 11 | g.5225596G>A | CA2612162255 | HBB | c.*2C>T (n.*2C>T) c.*262C>T (n.*262C>T) | gnomAD v4 |
| 11 | g.5225596G>T | CA2790275090 | HBB | c.*2C>A (n.*2C>A) c.*262C>A (n.*262C>A) | |
| 11 | g.5225597C= | CA1949564022 | HBB | c.*1G= (n.*1G=) c.*261G= (n.*261G=) | |
| 11 | g.5225597C>T | CA5839686 | HBB | c.*1G>A (n.*1G>A) c.*261G>A (n.*261G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
| 11 | g.5225598T>A | CA379273633 | HBB | c.444A>T (p.Ter148Tyr) c.*260A>T (n.*260A>T) | |
| 11 | g.5225598T>C | CA472638255 | HBB | c.444A>G (p.Ter148=) c.*260A>G (n.*260A>G) | gnomAD v4 |
| 11 | g.5225598T>G | CA379273634 | HBB | c.444A>C (p.Ter148Tyr) c.*260A>C (n.*260A>C) | |
| 11 | g.5225598T= | CA1949564036 | HBB | c.444A= (p.Ter148=) c.*260A= (n.*260A=) | |
| 11 | g.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | ClinVar dbSNP |
| 11 | g.5225599T>A | CA379273635 | HBB | c.443A>T (p.Ter148Leu) c.*259A>T (n.*259A>T) | |
| 11 | g.5225599T>C | CA472638256 | HBB | c.443A>G (p.Ter148=) c.*259A>G (n.*259A>G) | gnomAD v4 |
| 11 | g.5225599T>G | CA379273636 | HBB | c.443A>C (p.Ter148Ser) c.*259A>C (n.*259A>C) | |
| 11 | g.5225599_5225600dup | CA217112180 | HBB | c.442_443dup (p.Ter148TyrextTer12) c.*258_*259dup (n.*258_*259dup) | dbSNP |
| 11 | g.5225600A= | CA1949564040 | HBB | c.442T= (p.Ter148=) c.*258T= (n.*258T=) | |
| 11 | g.5225600A>C | CA379273637 | HBB | c.442T>G (p.Ter148Glu) c.*258T>G (n.*258T>G) | |
| 11 | g.5225600A>G | CA379273638 | HBB | c.442T>C (p.Ter148Gln) c.*258T>C (n.*258T>C) | |
| 11 | g.5225600A>T | CA379273639 | HBB | c.442T>A (p.Ter148Lys) c.*258T>A (n.*258T>A) | COSMIC |
| 11 | g.5225601G>A | CA472638257 | HBB | c.441C>T (p.His147=) c.*257C>T (n.*257C>T) | gnomAD v4 |
| 11 | g.5225601G>C | CA125513 | HBB | c.441C>G (p.His147Gln) c.*257C>G (n.*257C>G) | ClinVar dbSNP |
| 11 | g.5225601G= | CA1949564056 | HBB | c.441C= (p.His147=) c.*257C= (n.*257C=) | |
| 11 | g.5225601G>T | CA125360 | HBB | c.441C>A (p.His147Gln) c.*257C>A (n.*257C>A) | ClinVar dbSNP |
| 11 | g.5225602_5225603dup | CA125198 | HBB | c.440_441dup (p.Ter148ThrextTer12) c.*256_*257dup (n.*256_*257dup) | ClinVar dbSNP |
| 11 | g.5225602T>A | CA124809 | HBB | c.440A>T (p.His147Leu) c.*256A>T (n.*256A>T) | ClinVar dbSNP |
| 11 | g.5225602T>C | CA124799 | HBB | c.440A>G (p.His147Arg) c.*256A>G (n.*256A>G) | ClinVar dbSNP |
| 11 | g.5225602T>G | CA125245 | HBB | c.440A>C (p.His147Pro) c.*256A>C (n.*256A>C) | ClinVar dbSNP |
| 11 | g.5225602T= | CA1949564072 | HBB | c.440A= (p.His147=) c.*256A= (n.*256A=) | |
| 11 | g.5225603G>A | CA125478 | HBB | c.439C>T (p.His147Tyr) c.*255C>T (n.*255C>T) | ClinVar dbSNP |
| 11 | g.5225603G>C | CA124910 | HBB | c.439C>G (p.His147Asp) c.*255C>G (n.*255C>G) | ClinVar dbSNP |
| 11 | g.5225603G= | CA1949564089 | HBB | c.439C= (p.His147=) c.*255C= (n.*255C=) | |
| 11 | g.5225603G>T | CA379273640 | HBB | c.439C>A (p.His147Asn) c.*255C>A (n.*255C>A) | |
| 11 | g.5225604A= | CA1949564102 | HBB | c.438T= (p.Tyr146=) c.*254T= (n.*254T=) | |
| 11 | g.5225604A>C | CA379273641 | HBB | c.438T>G (p.Tyr146Ter) c.*254T>G (n.*254T>G) | |
| 11 | g.5225604A>G | CA472638258 | HBB | c.438T>C (p.Tyr146=) c.*254T>C (n.*254T>C) | |
| 11 | g.5225604A>T | CA125026 | HBB | c.438T>A (p.Tyr146Ter) c.*254T>A (n.*254T>A) | ClinVar dbSNP |
| 11 | g.5225605T>A | CA379273642 | HBB | c.437A>T (p.Tyr146Phe) c.*253A>T (n.*253A>T) | |
| 11 | g.5225605T>C | CA125120 | HBB | c.437A>G (p.Tyr146Cys) c.*253A>G (n.*253A>G) | ClinVar dbSNP |
| 11 | g.5225605T>G | CA379273643 | HBB | c.437A>C (p.Tyr146Ser) c.*253A>C (n.*253A>C) | |
| 11 | g.5225605T= | CA1949564107 | HBB | c.437A= (p.Tyr146=) c.*253A= (n.*253A=) | |
| 11 | g.5225606A= | CA1949564121 | HBB | c.436T= (p.Tyr146=) c.*252T= (n.*252T=) | |
| 11 | g.5225606A>C | CA217112207 | HBB | c.436T>G (p.Tyr146Asp) c.*252T>G (n.*252T>G) | dbSNP |
| 11 | g.5225606A>G | CA124752 | HBB | c.436T>C (p.Tyr146His) c.*252T>C (n.*252T>C) | ClinVar dbSNP |
| 11 | g.5225606A>T | CA217112211 | HBB | c.436T>A (p.Tyr146Asn) c.*252T>A (n.*252T>A) | ClinVar dbSNP |
| 11 | g.5225606_5225607insGA | CA124811 | HBB | c.436_437insCT (p.Tyr146SerfsTer14) c.*252_*253insCT (n.*252_*253insCT) | ClinVar dbSNP |
| 11 | g.5225607C>A | CA233188 | HBB | c.435G>T (p.Lys145Asn) c.*251G>T (n.*251G>T) | ClinVar dbSNP |
| 11 | g.5225607C= | CA1949564139 | HBB | c.435G= (p.Lys145=) c.*251G= (n.*251G=) | |
| 11 | g.5225607C>G | CA124724 | HBB | c.435G>C (p.Lys145Asn) c.*251G>C (n.*251G>C) | ClinVar dbSNP |
| 11 | g.5225607C>T | CA5839687 | HBB | c.435G>A (p.Lys145=) c.*251G>A (n.*251G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225607_5225608delinsCT | CA1949564134 | HBB | c.434_435delinsAG (p.Lys145=) c.*250_*251delinsAG (n.*250_*251delinsAG) | |
| 11 | g.5225608T>A | CA125476 | HBB | c.434A>T (p.Lys145Met) c.*250A>T (n.*250A>T) | ClinVar dbSNP |
| 11 | g.5225608T>C | CA379273644 | HBB | c.434A>G (p.Lys145Arg) c.*250A>G (n.*250A>G) | |
| 11 | g.5225608T>G | CA379273645 | HBB | c.434A>C (p.Lys145Thr) c.*250A>C (n.*250A>C) | |
| 11 | g.5225608T= | CA1949564150 | HBB | c.434A= (p.Lys145=) c.*250A= (n.*250A=) | |
| 11 | g.5225609del | CA125518 | HBB | c.434del (p.Lys145SerfsTer14) c.*250del (n.*250del) | ClinVar dbSNP |
| 11 | g.5225608_5225617delinsTTGTGGGCCA | CA1949564157 | HBB | c.425_434delinsTGGCCCACAA (p.Leu142=) c.*241_*250delinsTGGCCCACAA (n.*241_*250delinsTGGCCCACAA) | |
| 11 | g.5225609T>A | CA038142 | HBB | c.433A>T (p.Lys145Ter) c.*249A>T (n.*249A>T) | ClinVar dbSNP |
| 11 | g.[5225609T>A;5225618G>C] | CA038219 | HBB | c.[424C>G;433A>T] (p.[Leu142Val;Lys145Ter]) c.[*240C>G;*249A>T] (n.[*240C>G;*249A>T]) | ClinVar |
| 11 | g.5225609T>C | CA125032 | HBB | c.433A>G (p.Lys145Glu) c.*249A>G (n.*249A>G) | ClinVar dbSNP |
| 11 | g.5225609T>G | CA379273646 | HBB | c.433A>C (p.Lys145Gln) c.*249A>C (n.*249A>C) | |
| 11 | g.5225609T= | CA1949564166 | HBB | c.433A= (p.Lys145=) c.*249A= (n.*249A=) | |
| 11 | g.5225609_5225617del | CA125332 | HBB | c.425_433del (p.Leu142_Lys145delinsGln) c.*241_*249del (n.*241_*249del) | ClinVar dbSNP |
| 11 | g.5225610G>A | CA342872 | HBB | c.432C>T (p.His144=) c.*248C>T (n.*248C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225610G>C | CA217112242 | HBB | c.432C>G (p.His144Gln) c.*248C>G (n.*248C>G) | dbSNP |
| 11 | g.5225610G= | CA1949564183 | HBB | c.432C= (p.His144=) c.*248C= (n.*248C=) | |
| 11 | g.5225610G>T | CA217112246 | HBB | c.432C>A (p.His144Gln) c.*248C>A (n.*248C>A) | dbSNP COSMIC |
| 11 | g.5225610_5225611delinsGT | CA1949564177 | HBB | c.431_432delinsAC (p.His144=) c.*247_*248delinsAC (n.*247_*248delinsAC) | |
| 11 | g.5225611del | CA125153 | HBB | c.431del (p.His144ProfsTer15) c.*247del (n.*247del) | ClinVar dbSNP |
| 11 | g.5225611T>A | CA217112264 | HBB | c.431A>T (p.His144Leu) c.*247A>T (n.*247A>T) | dbSNP |
| 11 | g.5225611T>C | CA124714 | HBB | c.431A>G (p.His144Arg) c.*247A>G (n.*247A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225611T>G | CA125192 | HBB | c.431A>C (p.His144Pro) c.*247A>C (n.*247A>C) | ClinVar dbSNP |
| 11 | g.5225611T= | CA1949564197 | HBB | c.431A= (p.His144=) c.*247A= (n.*247A=) | |
| 11 | g.5225611_5225613delinsTGG | CA1949564204 | HBB | c.429_431delinsCCA (p.Ala143=) c.*245_*247delinsCCA (n.*245_*247delinsCCA) | |
| 11 | g.5225612G>A | CA125454 | HBB | c.430C>T (p.His144Tyr) c.*246C>T (n.*246C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225612G>C | CA125366 | HBB | c.430C>G (p.His144Asp) c.*246C>G (n.*246C>G) | ClinVar dbSNP |
| 11 | g.5225612G= | CA1949564218 | HBB | c.430C= (p.His144=) c.*246C= (n.*246C=) | |
| 11 | g.5225612G>T | CA217112281 | HBB | c.430C>A (p.His144Asn) c.*246C>A (n.*246C>A) | dbSNP |
| 11 | g.5225614del | CA2695212994 | HBB | c.430del (p.His144ThrfsTer15) c.*246del (n.*246del) | |
| 11 | g.5225613_5225614del | CA217112278 | HBB | c.429_430del (p.His144GlnfsTer21) c.*245_*246del (n.*245_*246del) | ClinVar dbSNP |
| 11 | g.5225613G>A | CA472638259 | HBB | c.429C>T (p.Ala143=) c.*245C>T (n.*245C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.5225613G>C | CA472638260 | HBB | c.429C>G (p.Ala143=) c.*245C>G (n.*245C>G) | dbSNP |
| 11 | g.5225613G= | CA1949564237 | HBB | c.429C= (p.Ala143=) c.*245C= (n.*245C=) | |
| 11 | g.5225613G>T | CA472638261 | HBB | c.429C>A (p.Ala143=) c.*245C>A (n.*245C>A) | |
| 11 | g.5225614G>A | CA037606 | HBB | c.428C>T (p.Ala143Val) c.*244C>T (n.*244C>T) | dbSNP |
| 11 | g.[5225614G>A;5227002T>A] | CA037715 | HBB | c.[20A>T;428C>T] (p.[Glu7Val;Ala143Val]) c.[20A>T;*244C>T] ([p.Glu7Val;n.*244C>T]) | ClinVar |
| 11 | g.5225614G>C | CA379273647 | HBB | c.428C>G (p.Ala143Gly) c.*244C>G (n.*244C>G) | |
| 11 | g.5225614G= | CA1949564243 | HBB | c.428C= (p.Ala143=) c.*244C= (n.*244C=) | |
| 11 | g.5225614G>T | CA125074 | HBB | c.428C>A (p.Ala143Asp) c.*244C>A (n.*244C>A) | ClinVar dbSNP |
| 11 | g.5225615C>A | CA379273648 | HBB | c.427G>T (p.Ala143Ser) c.*243G>T (n.*243G>T) | |
| 11 | g.5225615C= | CA1949564247 | HBB | c.427G= (p.Ala143=) c.*243G= (n.*243G=) | |
| 11 | g.5225615C>G | CA125211 | HBB | c.427G>C (p.Ala143Pro) c.*243G>C (n.*243G>C) | ClinVar dbSNP |
| 11 | g.5225615C>T | CA217112293 | HBB | c.427G>A (p.Ala143Thr) c.*243G>A (n.*243G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225615_5225618delinsCCAG | CA1949564250 | HBB | c.424_427delinsCTGG (p.Leu142=) c.*240_*243delinsCTGG (n.*240_*243delinsCTGG) | |
| 11 | g.5225616C>A | CA472638269 | HBB | c.426G>T (p.Leu142=) c.*242G>T (n.*242G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225616C= | CA1949564263 | HBB | c.426G= (p.Leu142=) c.*242G= (n.*242G=) | |
| 11 | g.5225616C>G | CA472638270 | HBB | c.426G>C (p.Leu142=) c.*242G>C (n.*242G>C) | |
| 11 | g.5225616C>T | CA472638267 | HBB | c.426G>A (p.Leu142=) c.*242G>A (n.*242G>A) | gnomAD v4 |
| 11 | g.5225616_5225618del | CA124807 | HBB | c.424_426del (p.Leu142del) c.*240_*242del (n.*240_*242del) | ClinVar dbSNP |
| 11 | g.5225617A= | CA1949564280 | HBB | c.425T= (p.Leu142=) c.*241T= (n.*241T=) | |
| 11 | g.5225617A>C | CA125082 | HBB | c.425T>G (p.Leu142Arg) c.*241T>G (n.*241T>G) | ClinVar dbSNP |
| 11 | g.5225617A>G | CA379273649 | HBB | c.425T>C (p.Leu142Pro) c.*241T>C (n.*241T>C) | |
| 11 | g.5225617A>T | CA379273650 | HBB | c.425T>A (p.Leu142Gln) c.*241T>A (n.*241T>A) | |
| 11 | g.5225617_5225618delinsAG | CA1949564273 | HBB | c.424_425delinsCT (p.Leu142=) c.*240_*241delinsCT (n.*240_*241delinsCT) | |
| 11 | g.5225618G>A | CA472638272 | HBB | c.424C>T (p.Leu142=) c.*240C>T (n.*240C>T) | |
| 11 | g.5225618G>C | CA038134 | HBB | c.424C>G (p.Leu142Val) c.*240C>G (n.*240C>G) | dbSNP |
| 11 | g.5225618G= | CA1949564288 | HBB | c.424C= (p.Leu142=) c.*240C= (n.*240C=) | |
| 11 | g.5225618G>T | CA379273651 | HBB | c.424C>A (p.Leu142Met) c.*240C>A (n.*240C>A) | |
| 11 | g.5225620del | CA217112298 | HBB | c.424del (p.Leu142TrpfsTer17) c.*240del (n.*240del) | dbSNP |
| 11 | g.5225619G>A | CA472638274 | HBB | c.423C>T (p.Ala141=) c.*239C>T (n.*239C>T) | |
| 11 | g.5225619G>C | CA472638275 | HBB | c.423C>G (p.Ala141=) c.*239C>G (n.*239C>G) | |
| 11 | g.5225619G>T | CA472638276 | HBB | c.423C>A (p.Ala141=) c.*239C>A (n.*239C>A) | |
| 11 | g.5225620G>A | CA125422 | HBB | c.422C>T (p.Ala141Val) c.*238C>T (n.*238C>T) | ClinVar dbSNP |
| 11 | g.5225620G>C | CA379273652 | HBB | c.422C>G (p.Ala141Gly) c.*238C>G (n.*238C>G) | |
| 11 | g.5225620G= | CA1949564306 | HBB | c.422C= (p.Ala141=) c.*238C= (n.*238C=) | |
| 11 | g.5225620G>T | CA124904 | HBB | c.422C>A (p.Ala141Asp) c.*238C>A (n.*238C>A) | ClinVar dbSNP |
| 11 | g.5225620_5225621delinsAT | CA2582341861 | HBB | c.421_422delinsAT (p.Ala141Ile) c.*237_*238delinsAT (n.*237_*238delinsAT) | ClinVar |
| 11 | g.5225621C>A | CA379273653 | HBB | c.421G>T (p.Ala141Ser) c.*237G>T (n.*237G>T) | |
| 11 | g.5225621C= | CA1949564313 | HBB | c.421G= (p.Ala141=) c.*237G= (n.*237G=) | |
| 11 | g.5225621C>G | CA379273654 | HBB | c.421G>C (p.Ala141Pro) c.*237G>C (n.*237G>C) | |
| 11 | g.5225621C>T | CA125141 | HBB | c.421G>A (p.Ala141Thr) c.*237G>A (n.*237G>A) | ClinVar dbSNP |
| 11 | g.5225622A= | CA1949564324 | HBB | c.420T= (p.Asn140=) c.*236T= (n.*236T=) | |
| 11 | g.5225622A>C | CA379273655 | HBB | c.420T>G (p.Asn140Lys) c.*236T>G (n.*236T>G) | ClinVar |
| 11 | g.5225622A>G | CA217112321 | HBB | c.420T>C (p.Asn140=) c.*236T>C (n.*236T>C) | dbSNP gnomAD v4 |
| 11 | g.5225622A>T | CA124906 | HBB | c.420T>A (p.Asn140Lys) c.*236T>A (n.*236T>A) | ClinVar dbSNP |
| 11 | g.5225622dup | CA2695212997 | HBB | c.420dup (p.Ala141CysfsTer25) c.*236dup (n.*236dup) | |
| 11 | g.5225623T>A | CA379273656 | HBB | c.419A>T (p.Asn140Ile) c.*235A>T (n.*235A>T) | |
| 11 | g.5225623T>C | CA379273657 | HBB | c.419A>G (p.Asn140Ser) c.*235A>G (n.*235A>G) | |
| 11 | g.5225623T>G | CA125470 | HBB | c.419A>C (p.Asn140Thr) c.*235A>C (n.*235A>C) | ClinVar dbSNP |
| 11 | g.5225623T= | CA1949564338 | HBB | c.419A= (p.Asn140=) c.*235A= (n.*235A=) | |
| 11 | g.5225623_5225627delinsTTAGC | CA1949564335 | HBB | c.415_419delinsGCTAA (p.Ala139=) c.*231_*235delinsGCTAA (n.*231_*235delinsGCTAA) | |
| 11 | g.5225623_5225629delinsTTAGCCA | CA1949564337 | HBB | c.413_419delinsTGGCTAA (p.Val138=) c.*229_*235delinsTGGCTAA (n.*229_*235delinsTGGCTAA) | |
| 11 | g.5225624T>A | CA125426 | HBB | c.418A>T (p.Asn140Tyr) c.*234A>T (n.*234A>T) | ClinVar dbSNP |
| 11 | g.5225624T>C | CA124875 | HBB | c.418A>G (p.Asn140Asp) c.*234A>G (n.*234A>G) | ClinVar dbSNP |
| 11 | g.5225624T>G | CA379273658 | HBB | c.418A>C (p.Asn140His) c.*234A>C (n.*234A>C) | |
| 11 | g.5225624T= | CA1949564347 | HBB | c.418A= (p.Asn140=) c.*234A= (n.*234A=) | |
| 11 | g.5225624_5225627del | CA918809822 | HBB | c.415_418del (p.Ala139MetfsTer19) c.*231_*234del (n.*231_*234del) | dbSNP |
| 11 | g.5225624_5225627delinsA | CA2695212998 | HBB | c.415_418delinsT (p.Ala139_Asn140delinsTyr) c.*231_*234delinsT (n.*231_*234delinsT) | |
| 11 | g.5225624_5225627delinsGCT | CA918809824 | HBB | c.415_418delinsAGC (p.Ala139SerfsTer20) c.*231_*234delinsAGC (n.*231_*234delinsAGC) | dbSNP |
| 11 | g.5225624_5225627delinsTAGC | CA1949564355 | HBB | c.415_418delinsGCTA (p.Ala139=) c.*231_*234delinsGCTA (n.*231_*234delinsGCTA) | |
| 11 | g.5225624_5225629del | CA217112329 | HBB | c.413_418del (p.Val138_Asn140delinsAsp) c.*229_*234del (n.*229_*234del) | dbSNP |
| 11 | g.5225625A= | CA1949564360 | HBB | c.417T= (p.Ala139=) c.*233T= (n.*233T=) | |
| 11 | g.5225625A>C | CA472638286 | HBB | c.417T>G (p.Ala139=) c.*233T>G (n.*233T>G) | |
| 11 | g.5225625A>G | CA472638288 | HBB | c.417T>C (p.Ala139=) c.*233T>C (n.*233T>C) | dbSNP |
| 11 | g.5225625A>T | CA472638290 | HBB | c.417T>A (p.Ala139=) c.*233T>A (n.*233T>A) | |
| 11 | g.5225625dup | CA916083173 | HBB | c.417dup (p.Asn140Ter) c.*233dup (n.*233dup) | ClinVar dbSNP |
| 11 | g.5225625_5225627del | CA125458 | HBB | c.415_417del (p.Ala139del) c.*231_*233del (n.*231_*233del) | ClinVar dbSNP |
| 11 | g.5225626G>A | CA217112337 | HBB | c.416C>T (p.Ala139Val) c.*232C>T (n.*232C>T) | dbSNP gnomAD v4 |
| 11 | g.5225626G>C | CA379273659 | HBB | c.416C>G (p.Ala139Gly) c.*232C>G (n.*232C>G) | |
| 11 | g.5225626G= | CA1949564363 | HBB | c.416C= (p.Ala139=) c.*232C= (n.*232C=) | |
| 11 | g.5225626G>T | CA379273660 | HBB | c.416C>A (p.Ala139Asp) c.*232C>A (n.*232C>A) | |
| 11 | g.5225627C>A | CA379273661 | HBB | c.415G>T (p.Ala139Ser) c.*231G>T (n.*231G>T) | |
| 11 | g.5225627C= | CA1949564372 | HBB | c.415G= (p.Ala139=) c.*231G= (n.*231G=) | |
| 11 | g.5225627C>G | CA124766 | HBB | c.415G>C (p.Ala139Pro) c.*231G>C (n.*231G>C) | ClinVar dbSNP |
| 11 | g.5225627C>T | CA125521 | HBB | c.415G>A (p.Ala139Thr) c.*231G>A (n.*231G>A) | ClinVar dbSNP |
| 11 | g.5225628C>A | CA472638296 | HBB | c.414G>T (p.Val138=) c.*230G>T (n.*230G>T) | |
| 11 | g.5225628C= | CA1949564380 | HBB | c.414G= (p.Val138=) c.*230G= (n.*230G=) | |
| 11 | g.5225628C>G | CA472638299 | HBB | c.414G>C (p.Val138=) c.*230G>C (n.*230G>C) | |
| 11 | g.5225628C>T | CA5839688 | HBB | c.414G>A (p.Val138=) c.*230G>A (n.*230G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225629_5225632del | CA2695213000 | HBB | c.411_414del (p.Val138LeufsTer20) c.*227_*230del (n.*227_*230del) | |
| 11 | g.5225628_5225638delinsCACACCAGCCA | CA1949564377 | HBB | c.404_414delinsTGGCTGGTGTG (p.Val135=) c.*220_*230delinsTGGCTGGTGTG (n.*220_*230delinsTGGCTGGTGTG) | |
| 11 | g.5225629A>C | CA379273662 | HBB | c.413T>G (p.Val138Gly) c.*229T>G (n.*229T>G) | |
| 11 | g.5225629A>G | CA379273663 | HBB | c.413T>C (p.Val138Ala) c.*229T>C (n.*229T>C) | |
| 11 | g.5225629A>T | CA379273664 | HBB | c.413T>A (p.Val138Glu) c.*229T>A (n.*229T>A) | |
| 11 | g.5225629_5225630delinsCA | CA2695213001 | HBB | c.412_413delinsTG (p.Val138Trp) c.*228_*229delinsTG (n.*228_*229delinsTG) | |
| 11 | g.5225629_5225638delinsCTGC | CA217112350 | HBB | c.404_413delinsGCAG (p.Val135_Val138delinsGlyArg) c.*220_*229delinsGCAG (n.*220_*229delinsGCAG) | dbSNP |
| 11 | g.5225630C>A | CA379273666 | HBB | c.412G>T (p.Val138Leu) c.*228G>T (n.*228G>T) | |
| 11 | g.5225630C= | CA1949564386 | HBB | c.412G= (p.Val138=) c.*228G= (n.*228G=) | |
| 11 | g.5225630C>G | CA379273665 | HBB | c.412G>C (p.Val138Leu) c.*228G>C (n.*228G>C) | |
| 11 | g.5225630C>T | CA5839689 | HBB | c.412G>A (p.Val138Met) c.*228G>A (n.*228G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225631A= | CA1949564388 | HBB | c.411T= (p.Gly137=) c.*227T= (n.*227T=) | |
| 11 | g.5225631A>C | CA5839690 | HBB | c.411T>G (p.Gly137=) c.*227T>G (n.*227T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225631A>G | CA472638306 | HBB | c.411T>C (p.Gly137=) c.*227T>C (n.*227T>C) | |
| 11 | g.5225631A>T | CA472638304 | HBB | c.411T>A (p.Gly137=) c.*227T>A (n.*227T>A) |