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.5225597_5225726delinsCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCCAGGAG | CA1949564026 | HBB | c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.[c.316_*1delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG;Leu106=]) c.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG (n.*132_*261delinsCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAAG) | |
| 11 | g.5225598_5225726del | CA1139661787 | HBB | c.316_444del (p.Leu106_Ter148del) c.*132_*260del (n.*132_*260del) | ClinVar dbSNP |
| 11 | g.5225602_5225603dup | CA125198 | HBB | c.440_441dup (p.Ter148ThrextTer12) c.*256_*257dup (n.*256_*257dup) | ClinVar dbSNP |
| 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) | |
| 11 | g.5225632C>A | CA379273667 | HBB | c.410G>T (p.Gly137Val) c.*226G>T (n.*226G>T) | |
| 11 | g.5225632C= | CA1949564393 | HBB | c.410G= (p.Gly137=) c.*226G= (n.*226G=) | |
| 11 | g.5225632C>G | CA217112353 | HBB | c.410G>C (p.Gly137Ala) c.*226G>C (n.*226G>C) | dbSNP |
| 11 | g.5225632C>T | CA124914 | HBB | c.410G>A (p.Gly137Asp) c.*226G>A (n.*226G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225633C>A | CA217112360 | HBB | c.409G>T (p.Gly137Cys) c.*225G>T (n.*225G>T) | dbSNP |
| 11 | g.5225633C= | CA1949564404 | HBB | c.409G= (p.Gly137=) c.*225G= (n.*225G=) | |
| 11 | g.5225633C>G | CA125500 | HBB | c.409G>C (p.Gly137Arg) c.*225G>C (n.*225G>C) | ClinVar dbSNP |
| 11 | g.5225633C>T | CA217112357 | HBB | c.409G>A (p.Gly137Ser) c.*225G>A (n.*225G>A) | dbSNP |
| 11 | g.5225633_5225634delinsCA | CA1949564400 | HBB | c.408_409delinsTG (p.Ala136=) c.*224_*225delinsTG (n.*224_*225delinsTG) | |
| 11 | g.5225634del | CA677551807 | HBB | c.408del (p.Gly137ValfsTer22) c.*224del (n.*224del) | dbSNP |
| 11 | g.5225634A>C | CA472638313 | HBB | c.408T>G (p.Ala136=) c.*224T>G (n.*224T>G) | |
| 11 | g.5225634A>G | CA472638314 | HBB | c.408T>C (p.Ala136=) c.*224T>C (n.*224T>C) | ClinVar |
| 11 | g.5225634A>T | CA472638316 | HBB | c.408T>A (p.Ala136=) c.*224T>A (n.*224T>A) | |
| 11 | g.5225634_5225645delinsAGCCACCACTTT | CA1949564412 | HBB | c.397_408delinsAAAGTGGTGGCT (p.Lys133=) c.*213_*224delinsAAAGTGGTGGCT (n.*213_*224delinsAAAGTGGTGGCT) | |
| 11 | g.5225635G>A | CA5839691 | HBB | c.407C>T (p.Ala136Val) c.*223C>T (n.*223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225635G>C | CA379273668 | HBB | c.407C>G (p.Ala136Gly) c.*223C>G (n.*223C>G) | |
| 11 | g.5225635G= | CA1949564419 | HBB | c.407C= (p.Ala136=) c.*223C= (n.*223C=) | |
| 11 | g.5225635G>T | CA125405 | HBB | c.407C>A (p.Ala136Asp) c.*223C>A (n.*223C>A) | ClinVar dbSNP |
| 11 | g.5225635_5225645del | CA217112361 | HBB | c.397_407del (p.Lys133TrpfsTer4) c.*213_*223del (n.*213_*223del) | dbSNP |
| 11 | g.[5225635_5225645del;5225654_5225657delinsTGTGG] | CA1139767774 | HBB | c.[385_388delinsCCACA;397_407del] (p.Ala129_Ala136delinsProHisLeuSer) c.[*201_*204delinsCCACA;*213_*223del] (n.[*201_*204delinsCCACA;*213_*223del]) | ClinVar |
| 11 | g.5225636C>A | CA379273669 | HBB | c.406G>T (p.Ala136Ser) c.*222G>T (n.*222G>T) | |
| 11 | g.5225636C= | CA1949564431 | HBB | c.406G= (p.Ala136=) c.*222G= (n.*222G=) | |
| 11 | g.5225636C>G | CA124722 | HBB | c.406G>C (p.Ala136Pro) c.*222G>C (n.*222G>C) | ClinVar dbSNP |
| 11 | g.5225636C>T | CA379273670 | HBB | c.406G>A (p.Ala136Thr) c.*222G>A (n.*222G>A) | |
| 11 | g.5225637C>A | CA472638328 | HBB | c.405G>T (p.Val135=) c.*221G>T (n.*221G>T) | |
| 11 | g.5225637C>G | CA472638327 | HBB | c.405G>C (p.Val135=) c.*221G>C (n.*221G>C) | |
| 11 | g.5225637C>T | CA472638325 | HBB | c.405G>A (p.Val135=) c.*221G>A (n.*221G>A) | gnomAD v4 |
| 11 | g.5225638_5225639del | CA2695213002 | HBB | c.404_405del (p.Val135GlyfsTer5) c.*220_*221del (n.*220_*221del) | |
| 11 | g.5225638A= | CA1949564445 | HBB | c.404T= (p.Val135=) c.*220T= (n.*220T=) | |
| 11 | g.5225638A>C | CA217112364 | HBB | c.404T>G (p.Val135Gly) c.*220T>G (n.*220T>G) | dbSNP gnomAD v4 |
| 11 | g.5225638A>G | CA125496 | HBB | c.404T>C (p.Val135Ala) c.*220T>C (n.*220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225638A>T | CA125066 | HBB | c.404T>A (p.Val135Glu) c.*220T>A (n.*220T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225639_5225649del | CA2573335037 | HBB | c.394_404del (p.Gln132GlyfsTer5) c.*210_*220del (n.*210_*220del) | ClinVar |
| 11 | g.5225639C>A | CA379273671 | HBB | c.403G>T (p.Val135Leu) c.*219G>T (n.*219G>T) | COSMIC |
| 11 | g.5225639C>G | CA379273672 | HBB | c.403G>C (p.Val135Leu) c.*219G>C (n.*219G>C) | |
| 11 | g.5225639C>T | CA379273673 | HBB | c.403G>A (p.Val135Met) c.*219G>A (n.*219G>A) | |
| 11 | g.5225640C>A | CA472638330 | HBB | c.402G>T (p.Val134=) c.*218G>T (n.*218G>T) | |
| 11 | g.5225640C= | CA1949564458 | HBB | c.402G= (p.Val134=) c.*218G= (n.*218G=) | |
| 11 | g.5225640C>G | CA342870 | HBB | c.402G>C (p.Val134=) c.*218G>C (n.*218G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225640C>T | CA5839692 | HBB | c.402G>A (p.Val134=) c.*218G>A (n.*218G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225641A= | CA1949564472 | HBB | c.401T= (p.Val134=) c.*217T= (n.*217T=) | |
| 11 | g.5225641A>C | CA379273674 | HBB | c.401T>G (p.Val134Gly) c.*217T>G (n.*217T>G) | |
| 11 | g.5225641A>G | CA125492 | HBB | c.401T>C (p.Val134Ala) c.*217T>C (n.*217T>C) | ClinVar dbSNP |
| 11 | g.5225641A>T | CA379273675 | HBB | c.401T>A (p.Val134Glu) c.*217T>A (n.*217T>A) | |
| 11 | g.5225641_5225653del | CA2580083906 | HBB | c.389_401del (p.Ala130GlyfsTer25) c.*205_*217del (n.*205_*217del) | ClinVar |
| 11 | g.5225642C>A | CA379273676 | HBB | c.400G>T (p.Val134Leu) c.*216G>T (n.*216G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225642C= | CA1949564482 | HBB | c.400G= (p.Val134=) c.*216G= (n.*216G=) | |
| 11 | g.5225642C>G | CA124841 | HBB | c.400G>C (p.Val134Leu) c.*216G>C (n.*216G>C) | ClinVar dbSNP |
| 11 | g.5225642C>T | CA217112381 | HBB | c.400G>A (p.Val134Met) c.*216G>A (n.*216G>A) | dbSNP |
| 11 | g.5225643T>A | CA217112387 | HBB | c.399A>T (p.Lys133Asn) c.*215A>T (n.*215A>T) | ClinVar dbSNP |
| 11 | g.5225643T>C | CA472638338 | HBB | c.399A>G (p.Lys133=) c.*215A>G (n.*215A>G) | dbSNP gnomAD v4 COSMIC |
| 11 | g.5225643T>G | CA217112390 | HBB | c.399A>C (p.Lys133Asn) c.*215A>C (n.*215A>C) | dbSNP |
| 11 | g.5225643T= | CA1949564508 | HBB | c.399A= (p.Lys133=) c.*215A= (n.*215A=) | |
| 11 | g.5225645del | CA2573335018 | HBB | c.399del (p.Val134TrpfsTer25) c.*215del (n.*215del) | |
| 11 | g.5225644T>A | CA379273677 | HBB | c.398A>T (p.Lys133Ile) c.*214A>T (n.*214A>T) | |
| 11 | g.5225644T>C | CA379273678 | HBB | c.398A>G (p.Lys133Arg) c.*214A>G (n.*214A>G) | COSMIC |
| 11 | g.5225644T>G | CA217112391 | HBB | c.398A>C (p.Lys133Thr) c.*214A>C (n.*214A>C) | dbSNP |
| 11 | g.5225644T= | CA1949564515 | HBB | c.398A= (p.Lys133=) c.*214A= (n.*214A=) | |
| 11 | g.5225644_5225646delinsTTC | CA1949564512 | HBB | c.396_398delinsGAA (p.Gln132=) c.*212_*214delinsGAA (n.*212_*214delinsGAA) | |
| 11 | g.5225645T>A | CA217112395 | HBB | c.397A>T (p.Lys133Ter) c.*213A>T (n.*213A>T) | ClinVar dbSNP |
| 11 | g.5225645T>C | CA217112400 | HBB | c.397A>G (p.Lys133Glu) c.*213A>G (n.*213A>G) | dbSNP |
| 11 | g.5225645T>G | CA124973 | HBB | c.397A>C (p.Lys133Gln) c.*213A>C (n.*213A>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225645T= | CA1949564528 | HBB | c.397A= (p.Lys133=) c.*213A= (n.*213A=) | |
| 11 | g.5225646_5225647del | CA217112393 | HBB | c.396_397del (p.Lys133SerfsTer7) c.*212_*213del (n.*212_*213del) | ClinVar dbSNP |
| 11 | g.5225645_5225662delinsTCTGATAGGCAGCCTGCA | CA1949564524 | HBB | c.380_397delinsTGCAGGCTGCCTATCAGA (p.Val127=) c.*196_*213delinsTGCAGGCTGCCTATCAGA (n.*196_*213delinsTGCAGGCTGCCTATCAGA) | |
| 11 | g.5225646del | CA2739291425 | HBB | c.396del (p.Val134TrpfsTer25) c.*212del (n.*212del) | |
| 11 | g.5225646C>A | CA379273679 | HBB | c.396G>T (p.Gln132His) c.*212G>T (n.*212G>T) | |
| 11 | g.5225646C= | CA1949564536 | HBB | c.396G= (p.Gln132=) c.*212G= (n.*212G=) | |
| 11 | g.5225646C>G | CA125452 | HBB | c.396G>C (p.Gln132His) c.*212G>C (n.*212G>C) | ClinVar dbSNP |
| 11 | g.5225646C>T | CA472638347 | HBB | c.396G>A (p.Gln132=) c.*212G>A (n.*212G>A) | |
| 11 | g.5225649_5225665del | CA5839693 | HBB | c.380_396del (p.Val127GlufsTer8) c.*196_*212del (n.*196_*212del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225647T>A | CA379273680 | HBB | c.395A>T (p.Gln132Leu) c.*211A>T (n.*211A>T) | |
| 11 | g.5225647T>C | CA125391 | HBB | c.395A>G (p.Gln132Arg) c.*211A>G (n.*211A>G) | ClinVar dbSNP |
| 11 | g.5225647T>G | CA125158 | HBB | c.395A>C (p.Gln132Pro) c.*211A>C (n.*211A>C) | ClinVar dbSNP |
| 11 | g.5225647T= | CA1949564547 | HBB | c.395A= (p.Gln132=) c.*211A= (n.*211A=) | |
| 11 | g.5225647dup | CA217112414 | HBB | c.395dup (p.Lys133GlufsTer8) c.*211dup (n.*211dup) | ClinVar dbSNP |
| 11 | g.5225648G>A | CA379273681 | HBB | c.394C>T (p.Gln132Ter) c.*210C>T (n.*210C>T) | ClinVar dbSNP |
| 11 | g.5225648G>C | CA217112422 | HBB | c.394C>G (p.Gln132Glu) c.*210C>G (n.*210C>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225648G= | CA1949564566 | HBB | c.394C= (p.Gln132=) c.*210C= (n.*210C=) | |
| 11 | g.5225648G>T | CA125160 | HBB | c.394C>A (p.Gln132Lys) c.*210C>A (n.*210C>A) | ClinVar dbSNP |
| 11 | g.5225649del | CA2695213005 | HBB | c.393del (p.Gln132ArgfsTer27) c.*209del (n.*209del) | |
| 11 | g.5225649A= | CA1949564582 | HBB | c.393T= (p.Tyr131=) c.*209T= (n.*209T=) | |
| 11 | g.5225649A>C | CA379273682 | HBB | c.393T>G (p.Tyr131Ter) c.*209T>G (n.*209T>G) | |
| 11 | g.5225649A>G | CA472638355 | HBB | c.393T>C (p.Tyr131=) c.*209T>C (n.*209T>C) | |
| 11 | g.5225649A>T | CA217112427 | HBB | c.393T>A (p.Tyr131Ter) c.*209T>A (n.*209T>A) | ClinVar dbSNP |
| 11 | g.5225650T>A | CA379273683 | HBB | c.392A>T (p.Tyr131Phe) c.*208A>T (n.*208A>T) | |
| 11 | g.5225650T>C | CA217112430 | HBB | c.392A>G (p.Tyr131Cys) c.*208A>G (n.*208A>G) | dbSNP |
| 11 | g.5225650T>G | CA125054 | HBB | c.392A>C (p.Tyr131Ser) c.*208A>C (n.*208A>C) | ClinVar dbSNP |
| 11 | g.5225650T= | CA1949564586 | HBB | c.392A= (p.Tyr131=) c.*208A= (n.*208A=) | |
| 11 | g.5225651A= | CA1949564594 | HBB | c.391T= (p.Tyr131=) c.*207T= (n.*207T=) | |
| 11 | g.5225651A>C | CA125233 | HBB | c.391T>G (p.Tyr131Asp) c.*207T>G (n.*207T>G) | ClinVar dbSNP |
| 11 | g.5225651A>G | CA379273684 | HBB | c.391T>C (p.Tyr131His) c.*207T>C (n.*207T>C) | |
| 11 | g.5225651A>T | CA379273685 | HBB | c.391T>A (p.Tyr131Asn) c.*207T>A (n.*207T>A) | |
| 11 | g.5225651dup | CA2695213007 | HBB | c.391dup (p.Tyr131LeufsTer10) c.*207dup (n.*207dup) | |
| 11 | g.5225653_5225656dup | CA2695213006 | HBB | c.388_391dup (p.Tyr131CysfsTer11) c.*204_*207dup (n.*204_*207dup) | |
| 11 | g.5225652G>A | CA472638363 | HBB | c.390C>T (p.Ala130=) c.*206C>T (n.*206C>T) | |
| 11 | g.5225652G>C | CA472638365 | HBB | c.390C>G (p.Ala130=) c.*206C>G (n.*206C>G) | |
| 11 | g.5225652G>T | CA472638362 | HBB | c.390C>A (p.Ala130=) c.*206C>A (n.*206C>A) | |
| 11 | g.5225652_5225653delinsGG | CA1949564602 | HBB | c.389_390delinsCC (p.Ala130=) c.*205_*206delinsCC (n.*205_*206delinsCC) | |
| 11 | g.5225653dup | CA217112441 | HBB | c.390dup (p.Tyr131LeufsTer10) c.*206dup (n.*206dup) | dbSNP |
| 11 | g.5225652_5225655delinsGGCA | CA1949564604 | HBB | c.387_390delinsTGCC (p.Ala129=) c.*203_*206delinsTGCC (n.*203_*206delinsTGCC) | |
| 11 | g.5225653G>A | CA124993 | HBB | c.389C>T (p.Ala130Val) c.*205C>T (n.*205C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225653G>C | CA379273686 | HBB | c.389C>G (p.Ala130Gly) c.*205C>G (n.*205C>G) | |
| 11 | g.5225653G= | CA1949564615 | HBB | c.389C= (p.Ala130=) c.*205C= (n.*205C=) | |
| 11 | g.5225653G>T | CA124965 | HBB | c.389C>A (p.Ala130Asp) c.*205C>A (n.*205C>A) | ClinVar dbSNP |
| 11 | g.5225653delinsTT | CA217112450 | HBB | c.389delinsAA (p.Ala130GlufsTer11) c.*205delinsAA (n.*205delinsAA) | dbSNP |
| 11 | g.5225653_5225657delinsGCAGC | CA1949564617 | HBB | c.385_389delinsGCTGC (p.Ala129=) c.*201_*205delinsGCTGC (n.*201_*205delinsGCTGC) | |
| 11 | g.5225655_5225657del | CA645509058 | HBB | c.387_389del (p.Ala130del) c.*203_*205del (n.*203_*205del) | ClinVar dbSNP |
| 11 | g.5225653_5225654insT | CA217112458 | HBB | c.388_389insA (p.Ala130AspfsTer11) c.*204_*205insA (n.*204_*205insA) | dbSNP |
| 11 | g.5225654C>A | CA379273687 | HBB | c.388G>T (p.Ala130Ser) c.*204G>T (n.*204G>T) | dbSNP |
| 11 | g.5225654C= | CA1949564627 | HBB | c.388G= (p.Ala130=) c.*204G= (n.*204G=) | |
| 11 | g.5225654C>G | CA124812 | HBB | c.388G>C (p.Ala130Pro) c.*204G>C (n.*204G>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.5225654C>T | CA5839694 | HBB | c.388G>A (p.Ala130Thr) c.*204G>A (n.*204G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225654_5225657delinsTGTGG | CA125527 | HBB | c.385_388delinsCCACA (p.Ala129ProfsTer12) c.*201_*204delinsCCACA (n.*201_*204delinsCCACA) | dbSNP |
| 11 | g.5225655A= | CA1949564632 | HBB | c.387T= (p.Ala129=) n.319T= c.*203T= (n.*203T=) | |
| 11 | g.5225655A>C | CA472638373 | HBB | c.387T>G (p.Ala129=) n.319T>G c.*203T>G (n.*203T>G) | |
| 11 | g.5225655A>G | CA472638375 | HBB | c.387T>C (p.Ala129=) n.319T>C c.*203T>C (n.*203T>C) | |
| 11 | g.5225655A>T | CA472638376 | HBB | c.387T>A (p.Ala129=) n.319T>A c.*203T>A (n.*203T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225656G>A | CA125488 | HBB | c.386C>T (p.Ala129Val) n.318C>T c.*202C>T (n.*202C>T) | ClinVar dbSNP |
| 11 | g.5225656G>C | CA379273688 | HBB | c.386C>G (p.Ala129Gly) n.318C>G c.*202C>G (n.*202C>G) | |
| 11 | g.5225656G= | CA1949564641 | HBB | c.386C= (p.Ala129=) n.318C= c.*202C= (n.*202C=) | |
| 11 | g.5225656G>T | CA124949 | HBB | c.386C>A (p.Ala129Asp) n.318C>A c.*202C>A (n.*202C>A) | ClinVar dbSNP |
| 11 | g.5225656_5225659delinsGCCT | CA1949564646 | HBB | c.383_386delinsAGGC (p.Gln128=) n.315_318delinsAGGC c.*199_*202delinsAGGC (n.*199_*202delinsAGGC) | |
| 11 | g.5225657C>A | CA379273689 | HBB | c.385G>T (p.Ala129Ser) n.317G>T c.*201G>T (n.*201G>T) | COSMIC |
| 11 | g.5225657C= | CA1949564663 | HBB | c.385G= (p.Ala129=) n.317G= c.*201G= (n.*201G=) | |
| 11 | g.5225657C>G | CA125498 | HBB | c.385G>C (p.Ala129Pro) n.317G>C c.*201G>C (n.*201G>C) | ClinVar dbSNP |
| 11 | g.5225657C>T | CA5839695 | HBB | c.385G>A (p.Ala129Thr) n.317G>A c.*201G>A (n.*201G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225658del | CA2695213008 | HBB | c.385del (p.Ala129LeufsTer30) n.317del c.*201del (n.*201del) | |
| 11 | g.5225657_5225659del | CA125275 | HBB | c.383_385del (p.Gln128_Ala129delinsPro) n.315_317del c.*199_*201del (n.*199_*201del) | ClinVar dbSNP |
| 11 | g.5225658C>A | CA379273691 | HBB | c.384G>T (p.Gln128His) n.316G>T c.*200G>T (n.*200G>T) | COSMIC |
| 11 | g.5225658C= | CA1949564675 | HBB | c.384G= (p.Gln128=) n.316G= c.*200G= (n.*200G=) | |
| 11 | g.5225658C>G | CA379273690 | HBB | c.384G>C (p.Gln128His) n.316G>C c.*200G>C (n.*200G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225658C>T | CA472638386 | HBB | c.384G>A (p.Gln128=) n.316G>A c.*200G>A (n.*200G>A) | gnomAD v4 |
| 11 | g.5225659T>A | CA379273692 | HBB | c.383A>T (p.Gln128Leu) n.315A>T c.*199A>T (n.*199A>T) | |
| 11 | g.5225659T>C | CA125414 | HBB | c.383A>G (p.Gln128Arg) n.315A>G c.*199A>G (n.*199A>G) | ClinVar dbSNP |
| 11 | g.5225659T>G | CA125273 | HBB | c.383A>C (p.Gln128Pro) n.315A>C c.*199A>C (n.*199A>C) | ClinVar dbSNP |
| 11 | g.5225659T= | CA1949564684 | HBB | c.383A= (p.Gln128=) n.315A= c.*199A= (n.*199A=) | |
| 11 | g.5225659_5225665delinsTGCACTG | CA1949564691 | HBB | c.377_383delinsCAGTGCA (p.Pro126=) n.309_315delinsCAGTGCA c.*193_*199delinsCAGTGCA (n.*193_*199delinsCAGTGCA) | |
| 11 | g.5225660G>A | CA5839696 | HBB | c.382C>T (p.Gln128Ter) n.314C>T c.*198C>T (n.*198C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225660G>C | CA124883 | HBB | c.382C>G (p.Gln128Glu) n.314C>G c.*198C>G (n.*198C>G) | ClinVar dbSNP |
| 11 | g.5225660G= | CA1949564703 | HBB | c.382C= (p.Gln128=) n.314C= c.*198C= (n.*198C=) | |
| 11 | g.5225660G>T | CA124758 | HBB | c.382C>A (p.Gln128Lys) n.314C>A c.*198C>A (n.*198C>A) | ClinVar dbSNP |
| 11 | g.5225661_5225666del | CA217112500 | HBB | c.377_382del (p.Pro126_Val127del) n.309_314del c.*193_*198del (n.*193_*198del) | dbSNP |
| 11 | g.5225661C>A | CA472638395 | HBB | c.381G>T (p.Val127=) n.313G>T c.*197G>T (n.*197G>T) | |
| 11 | g.5225661C= | CA1949564716 | HBB | c.381G= (p.Val127=) n.313G= c.*197G= (n.*197G=) | |
| 11 | g.5225661C>G | CA472638397 | HBB | c.381G>C (p.Val127=) n.313G>C c.*197G>C (n.*197G>C) | |
| 11 | g.5225661C>T | CA472638393 | HBB | c.381G>A (p.Val127=) n.313G>A c.*197G>A (n.*197G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225661_5225662delinsCA | CA1949564719 | HBB | c.380_381delinsTG (p.Val127=) n.312_313delinsTG c.*196_*197delinsTG (n.*196_*197delinsTG) | |
| 11 | g.5225662del | CA217112521 | HBB | c.380del (p.Val127GlyfsTer?) n.312del c.*196del (n.*196del) | dbSNP |
| 11 | g.5225662A= | CA1949564726 | HBB | c.380T= (p.Val127=) n.312T= c.*196T= (n.*196T=) | |
| 11 | g.5225662A>C | CA125340 | HBB | c.380T>G (p.Val127Gly) n.312T>G c.*196T>G (n.*196T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225662A>G | CA124740 | HBB | c.380T>C (p.Val127Ala) n.312T>C c.*196T>C (n.*196T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225662A>T | CA124912 | HBB | c.380T>A (p.Val127Glu) n.312T>A c.*196T>A (n.*196T>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225662_5225664delinsACT | CA1949564731 | HBB | c.378_380delinsAGT (p.Pro126=) n.310_312delinsAGT c.*194_*196delinsAGT (n.*194_*196delinsAGT) | |
| 11 | g.5225662_5225666dup | CA2695213010 | HBB | c.376_380dup (p.Ala129CysfsTer?) n.308_312dup c.*192_*196dup (n.*192_*196dup) | |
| 11 | g.5225663del | CA2695213012 | HBB | c.379del (p.Val127CysfsTer?) n.311del c.*195del (n.*195del) | |
| 11 | g.5225663C>A | CA379273693 | HBB | c.379G>T (p.Val127Leu) n.311G>T c.*195G>T (n.*195G>T) | |
| 11 | g.5225663C= | CA1949564751 | HBB | c.379G= (p.Val127=) n.311G= c.*195G= (n.*195G=) | |
| 11 | g.5225663C>G | CA125507 | HBB | c.379G>C (p.Val127Leu) n.311G>C c.*195G>C (n.*195G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225663C>T | CA379273694 | HBB | c.379G>A (p.Val127Met) n.311G>A c.*195G>A (n.*195G>A) | |
| 11 | g.5225663_5225664del | CA1139661788 | HBB | c.378_379del (p.Val127AlafsTer13) n.310_311del c.*194_*195del (n.*194_*195del) | ClinVar dbSNP |
| 11 | g.5225663_5225664delinsCT | CA1949564754 | HBB | c.378_379delinsAG (p.Pro126=) n.310_311delinsAG c.*194_*195delinsAG (n.*194_*195delinsAG) | |
| 11 | g.5225663_5225671delinsCTGGTGGGG | CA1949564746 | HBB | c.371_379delinsCCCCACCAG (p.Thr124=) n.303_311delinsCCCCACCAG c.*187_*195delinsCCCCACCAG (n.*187_*195delinsCCCCACCAG) | |
| 11 | g.5225663_5225672delinsCTGGTGGGGT | CA1949564743 | HBB | c.370_379delinsACCCCACCAG (p.Thr124=) n.302_311delinsACCCCACCAG c.*186_*195delinsACCCCACCAG (n.*186_*195delinsACCCCACCAG) | |
| 11 | g.5225664del | CA217112544 | HBB | c.378del (p.Val127CysfsTer?) n.310del c.*194del (n.*194del) | ClinVar dbSNP |
| 11 | g.5225664T>A | CA472638405 | HBB | c.378A>T (p.Pro126=) n.310A>T c.*194A>T (n.*194A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225664T>C | CA472638406 | HBB | c.378A>G (p.Pro126=) n.310A>G c.*194A>G (n.*194A>G) | dbSNP |
| 11 | g.5225664T>G | CA472638408 | HBB | c.378A>C (p.Pro126=) n.310A>C c.*194A>C (n.*194A>C) | |
| 11 | g.5225664T= | CA1949564769 | HBB | c.378A= (p.Pro126=) n.310A= c.*194A= (n.*194A=) | |
| 11 | g.5225667_5225669dup | CA217112540 | HBB | c.376_378dup (p.Pro126_Val127insPro) n.308_310dup c.*192_*194dup (n.*192_*194dup) | dbSNP |
| 11 | g.5225664_5225672del | CA217112548 | HBB | c.370_378del (p.Thr124_Pro126del) n.302_310del c.*186_*194del (n.*186_*194del) | dbSNP |
| 11 | g.5225666_5225673del | CA658683671 | HBB | c.371_378del (p.Thr124SerfsTer14) n.303_310del c.*187_*194del (n.*187_*194del) | ClinVar dbSNP |
| 11 | g.5225665G>A | CA379273695 | HBB | c.377C>T (p.Pro126Leu) n.309C>T c.*193C>T (n.*193C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225665G>C | CA379273696 | HBB | c.377C>G (p.Pro126Arg) n.309C>G c.*193C>G (n.*193C>G) | |
| 11 | g.5225665G= | CA1949564786 | HBB | c.377C= (p.Pro126=) n.309C= c.*193C= (n.*193C=) | |
| 11 | g.5225665G>T | CA379273697 | HBB | c.377C>A (p.Pro126Gln) n.309C>A c.*193C>A (n.*193C>A) | |
| 11 | g.5225666G>A | CA379273698 | HBB | c.376C>T (p.Pro126Ser) n.308C>T c.*192C>T (n.*192C>T) | |
| 11 | g.5225666G>C | CA5839697 | HBB | c.376C>G (p.Pro126Ala) n.308C>G c.*192C>G (n.*192C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225666G= | CA1949564788 | HBB | c.376C= (p.Pro126=) n.308C= c.*192C= (n.*192C=) | |
| 11 | g.5225666G>T | CA379273699 | HBB | c.376C>A (p.Pro126Thr) n.308C>A c.*192C>A (n.*192C>A) | gnomAD v4 COSMIC |
| 11 | g.5225666_5225667delinsGT | CA1949564787 | HBB | c.375_376delinsAC (p.Pro125=) n.307_308delinsAC c.*191_*192delinsAC (n.*191_*192delinsAC) | |
| 11 | g.5225667del | CA217112550 | HBB | c.375del (p.Pro126GlnfsTer?) n.307del c.*191del (n.*191del) | dbSNP |
| 11 | g.5225667T>A | CA472638415 | HBB | c.375A>T (p.Pro125=) n.307A>T c.*191A>T (n.*191A>T) | |
| 11 | g.5225667T>C | CA472638416 | HBB | c.375A>G (p.Pro125=) n.307A>G c.*191A>G (n.*191A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225667T>G | CA472638419 | HBB | c.375A>C (p.Pro125=) n.307A>C c.*191A>C (n.*191A>C) | gnomAD v4 |
| 11 | g.5225667T= | CA1949564792 | HBB | c.375A= (p.Pro125=) n.307A= c.*191A= (n.*191A=) | |
| 11 | g.5225667dup | CA217112549 | HBB | c.375dup (p.Pro126ThrfsTer15) n.307dup c.*191dup (n.*191dup) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225668G>A | CA125462 | HBB | c.374C>T (p.Pro125Leu) n.306C>T c.*190C>T (n.*190C>T) | ClinVar dbSNP |
| 11 | g.5225668G>C | CA124981 | HBB | c.374C>G (p.Pro125Arg) n.306C>G c.*190C>G (n.*190C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225668G= | CA1949564803 | HBB | c.374C= (p.Pro125=) n.306C= c.*190C= (n.*190C=) | |
| 11 | g.5225668G>T | CA125219 | HBB | c.374C>A (p.Pro125Gln) n.306C>A c.*190C>A (n.*190C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225671dup | CA2695213014 | HBB | c.374dup (p.Pro126ThrfsTer15) n.306dup c.*190dup (n.*190dup) | |
| 11 | g.5225669G>A | CA125217 | HBB | c.373C>T (p.Pro125Ser) n.305C>T c.*189C>T (n.*189C>T) | ClinVar dbSNP |
| 11 | g.5225669G>C | CA379273700 | HBB | c.373C>G (p.Pro125Ala) n.305C>G c.*189C>G (n.*189C>G) | |
| 11 | g.5225669G= | CA1949564819 | HBB | c.373C= (p.Pro125=) n.305C= c.*189C= (n.*189C=) | |
| 11 | g.5225669G>T | CA379273701 | HBB | c.373C>A (p.Pro125Thr) n.305C>A c.*189C>A (n.*189C>A) | ClinVar dbSNP |
| 11 | g.5225670G>A | CA5839698 | HBB | c.372C>T (p.Thr124=) n.304C>T c.*188C>T (n.*188C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5225670G>C | CA472638426 | HBB | c.372C>G (p.Thr124=) n.304C>G c.*188C>G (n.*188C>G) | ClinVar |
| 11 | g.5225670G= | CA1949564824 | HBB | c.372C= (p.Thr124=) n.304C= c.*188C= (n.*188C=) | |
| 11 | g.5225670G>T | CA472638428 | HBB | c.372C>A (p.Thr124=) n.304C>A c.*188C>A (n.*188C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225671G>A | CA125227 | HBB | c.371C>T (p.Thr124Ile) n.303C>T c.*187C>T (n.*187C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225671G>C | CA379273702 | HBB | c.371C>G (p.Thr124Ser) n.303C>G c.*187C>G (n.*187C>G) | |
| 11 | g.5225671G= | CA1949564832 | HBB | c.371C= (p.Thr124=) n.303C= c.*187C= (n.*187C=) | |
| 11 | g.5225671G>T | CA125490 | HBB | c.371C>A (p.Thr124Asn) n.303C>A c.*187C>A (n.*187C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225671_5225672delinsGT | CA1949564834 | HBB | c.370_371delinsAC (p.Thr124=) n.302_303delinsAC c.*186_*187delinsAC (n.*186_*187delinsAC) | |
| 11 | g.5225672del | CA217112582 | HBB | c.370del (p.Thr124ProfsTer?) n.302del c.*186del (n.*186del) | dbSNP |
| 11 | g.5225672T>A | CA379273703 | HBB | c.370A>T (p.Thr124Ser) n.302A>T c.*186A>T (n.*186A>T) | |
| 11 | g.5225672T>C | CA379273704 | HBB | c.370A>G (p.Thr124Ala) n.302A>G c.*186A>G (n.*186A>G) | |
| 11 | g.5225672T>G | CA379273705 | HBB | c.370A>C (p.Thr124Pro) n.302A>C c.*186A>C (n.*186A>C) | dbSNP |
| 11 | g.5225672T= | CA1949564839 | HBB | c.370A= (p.Thr124=) n.302A= c.*186A= (n.*186A=) | |
| 11 | g.5225673G>A | CA217112589 | HBB | c.369C>T (p.Phe123=) n.301C>T c.*185C>T (n.*185C>T) | dbSNP COSMIC |
| 11 | g.5225673G>C | CA217112593 | HBB | c.369C>G (p.Phe123Leu) n.301C>G c.*185C>G (n.*185C>G) | dbSNP |
| 11 | g.5225673G= | CA1949564842 | HBB | c.369C= (p.Phe123=) n.301C= c.*185C= (n.*185C=) | |
| 11 | g.5225673G>T | CA217112586 | HBB | c.369C>A (p.Phe123Leu) n.301C>A c.*185C>A (n.*185C>A) | dbSNP |
| 11 | g.5225674A= | CA1949564847 | HBB | c.368T= (p.Phe123=) n.300T= c.*184T= (n.*184T=) | |
| 11 | g.5225674A>C | CA379273706 | HBB | c.368T>G (p.Phe123Cys) n.300T>G c.*184T>G (n.*184T>G) | |
| 11 | g.5225674A>G | CA217112596 | HBB | c.368T>C (p.Phe123Ser) n.300T>C c.*184T>C (n.*184T>C) | dbSNP |
| 11 | g.5225674A>T | CA379273707 | HBB | c.368T>A (p.Phe123Tyr) n.300T>A c.*184T>A (n.*184T>A) | |
| 11 | g.5225675A= | CA1949564853 | HBB | c.367T= (p.Phe123=) n.299T= c.*183T= (n.*183T=) | |
| 11 | g.5225675A>C | CA217112599 | HBB | c.367T>G (p.Phe123Val) n.299T>G c.*183T>G (n.*183T>G) | dbSNP |
| 11 | g.5225675A>G | CA125484 | HBB | c.367T>C (p.Phe123Leu) n.299T>C c.*183T>C (n.*183T>C) | ClinVar dbSNP |
| 11 | g.[5225675A>G;5226695T>A] | CA358371 | HBB | c.[197A>T;367T>C] (p.[Lys66Met;Phe123Leu]) n.[129A>T;299T>C] c.[*13A>T;*183T>C] (n.[*13A>T;*183T>C]) | ClinVar |
| 11 | g.5225675A>T | CA217112611 | HBB | c.367T>A (p.Phe123Ile) n.299T>A c.*183T>A (n.*183T>A) | dbSNP |
| 11 | g.5225676T>A | CA379273709 | HBB | c.366A>T (p.Glu122Asp) n.298A>T c.*182A>T (n.*182A>T) | |
| 11 | g.5225676T>C | CA472638443 | HBB | c.366A>G (p.Glu122=) n.298A>G c.*182A>G (n.*182A>G) | |
| 11 | g.5225676T>G | CA379273708 | HBB | c.366A>C (p.Glu122Asp) n.298A>C c.*182A>C (n.*182A>C) | |
| 11 | g.5225677T>A | CA124748 | HBB | c.365A>T (p.Glu122Val) n.297A>T c.*181A>T (n.*181A>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.5225677T>C | CA125362 | HBB | c.365A>G (p.Glu122Gly) n.297A>G c.*181A>G (n.*181A>G) | ClinVar dbSNP |
| 11 | g.5225677T>G | CA125410 | HBB | c.365A>C (p.Glu122Ala) n.297A>C c.*181A>C (n.*181A>C) | ClinVar dbSNP |
| 11 | g.5225677T= | CA1949564866 | HBB | c.365A= (p.Glu122=) n.297A= c.*181A= (n.*181A=) | |
| 11 | g.5225678del | CA2695213016 | HBB | c.364del (p.Glu122AsnfsTer?) n.296del c.*180del (n.*180del) | |
| 11 | g.5225678C>A | CA125263 | HBB | c.364G>T (p.Glu122Ter) n.296G>T c.*180G>T (n.*180G>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225678C= | CA1949564891 | HBB | c.364G= (p.Glu122=) n.296G= c.*180G= (n.*180G=) | |
| 11 | g.5225678C>G | CA124824 | HBB | c.364G>C (p.Glu122Gln) n.296G>C c.*180G>C (n.*180G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[5225678C>G;5226612A>G] | CA037750 | HBB | c.[280T>C;364G>C] (p.[Cys94Arg;Glu122Gln]) n.[212T>C;296G>C] c.[*96T>C;*180G>C] (n.[*96T>C;*180G>C]) | ClinVar |
| 11 | g.[5225678C>G;5226943C>T] | CA037744 | HBB | c.[79G>A;364G>C] (p.[Glu27Lys;Glu122Gln]) c.[76+3G>A;*180G>C] (n.[76+3G>A;*180G>C]) | ClinVar |
| 11 | g.[5225678C>G;5226993G>T] | CA037933 | HBB | c.[29C>A;364G>C] (p.[Ser10Tyr;Glu122Gln]) c.[29C>A;*180G>C] ([p.Ser10Tyr;n.*180G>C]) | ClinVar |
| 11 | g.5225678C>T | CA125070 | HBB | c.364G>A (p.Glu122Lys) n.296G>A c.*180G>A (n.*180G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.[5225678C>T;5226988C>T] | CA037973 | HBB | c.[34G>A;364G>A] (p.[Val12Ile;Glu122Lys]) c.[34G>A;*180G>A] ([p.Val12Ile;n.*180G>A]) | ClinVar |
| 11 | g.[5225678C>T;5227002T>A] | CA037538 | HBB | c.[20A>T;364G>A] (p.[Glu7Val;Glu122Lys]) c.[20A>T;*180G>A] ([p.Glu7Val;n.*180G>A]) | ClinVar |
| 11 | g.5225679T>A | CA379273710 | HBB | c.363A>T (p.Lys121Asn) n.295A>T c.*179A>T (n.*179A>T) | |
| 11 | g.5225679T>C | CA472638452 | HBB | c.363A>G (p.Lys121=) n.295A>G c.*179A>G (n.*179A>G) | ClinVar dbSNP |
| 11 | g.5225679T>G | CA125130 | HBB | c.363A>C (p.Lys121Asn) n.295A>C c.*179A>C (n.*179A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225679T= | CA1949564898 | HBB | c.363A= (p.Lys121=) n.295A= c.*179A= (n.*179A=) | |
| 11 | g.5225681dup | CA217112634 | HBB | c.363dup (p.Glu122ArgfsTer19) n.295dup c.*179dup (n.*179dup) | dbSNP |
| 11 | g.5225681del | CA2695213017 | HBB | c.363del (p.Glu122AsnfsTer?) n.295del c.*179del (n.*179del) | |
| 11 | g.5225680T>A | CA124967 | HBB | c.362A>T (p.Lys121Ile) n.294A>T c.*178A>T (n.*178A>T) | ClinVar dbSNP |
| 11 | g.5225680T>C | CA379273711 | HBB | c.362A>G (p.Lys121Arg) n.294A>G c.*178A>G (n.*178A>G) | |
| 11 | g.5225680T>G | CA379273712 | HBB | c.362A>C (p.Lys121Thr) n.294A>C c.*178A>C (n.*178A>C) | |
| 11 | g.5225680T= | CA1949564910 | HBB | c.362A= (p.Lys121=) n.294A= c.*178A= (n.*178A=) | |
| 11 | g.5225681T>A | CA379273713 | HBB | c.361A>T (p.Lys121Ter) n.293A>T c.*177A>T (n.*177A>T) | |
| 11 | g.5225681T>C | CA124900 | HBB | c.361A>G (p.Lys121Glu) n.293A>G c.*177A>G (n.*177A>G) | ClinVar dbSNP |
| 11 | g.5225681T>G | CA125199 | HBB | c.361A>C (p.Lys121Gln) n.293A>C c.*177A>C (n.*177A>C) | ClinVar dbSNP COSMIC |
| 11 | g.5225681T= | CA1949564921 | HBB | c.361A= (p.Lys121=) n.293A= c.*177A= (n.*177A=) | |
| 11 | g.5225682G>A | CA472638459 | HBB | c.360C>T (p.Gly120=) n.292C>T c.*176C>T (n.*176C>T) | |
| 11 | g.5225682G>C | CA472638461 | HBB | c.360C>G (p.Gly120=) n.292C>G c.*176C>G (n.*176C>G) | |
| 11 | g.5225682G>T | CA472638463 | HBB | c.360C>A (p.Gly120=) n.292C>A c.*176C>A (n.*176C>A) | gnomAD v4 |
| 11 | g.5225683C>A | CA124746 | HBB | c.359G>T (p.Gly120Val) n.291G>T c.*175G>T (n.*175G>T) | ClinVar dbSNP |
| 11 | g.5225683C= | CA1949564939 | HBB | c.359G= (p.Gly120=) n.291G= c.*175G= (n.*175G=) | |
| 11 | g.5225683C>G | CA125341 | HBB | c.359G>C (p.Gly120Ala) n.291G>C c.*175G>C (n.*175G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225683C>T | CA037352 | HBB | c.359G>A (p.Gly120Asp) n.291G>A c.*175G>A (n.*175G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.[5225683C>T;5225699G>T] | CA037417 | HBB | c.[343C>A;359G>A] (p.[Leu115Met;Gly120Asp]) n.[275C>A;291G>A] c.[*159C>A;*175G>A] (n.[*159C>A;*175G>A]) | ClinVar |
| 11 | g.[5225683C>T;5225708C>G] | CA037400 | HBB | c.[334G>C;359G>A] (p.[Val112Leu;Gly120Asp]) n.[266G>C;291G>A] c.[*150G>C;*175G>A] (n.[*150G>C;*175G>A]) | ClinVar |
| 11 | g.5225684del | CA472638467 | HBB | c.359del (p.Gly120AlafsTer?) n.291del c.*175del (n.*175del) | COSMIC |
| 11 | g.5225684C>A | CA379273714 | HBB | c.358G>T (p.Gly120Cys) n.290G>T c.*174G>T (n.*174G>T) | |
| 11 | g.5225684C= | CA1949564954 | HBB | c.358G= (p.Gly120=) n.290G= c.*174G= (n.*174G=) | |
| 11 | g.5225684C>G | CA217112662 | HBB | c.358G>C (p.Gly120Arg) n.290G>C c.*174G>C (n.*174G>C) | dbSNP |
| 11 | g.5225684C>T | CA379273715 | HBB | c.358G>A (p.Gly120Ser) n.290G>A c.*174G>A (n.*174G>A) | |
| 11 | g.5225684_5225685delinsCA | CA1949564952 | HBB | c.357_358delinsTG (p.Phe119=) n.289_290delinsTG c.*173_*174delinsTG (n.*173_*174delinsTG) | |
| 11 | g.5225685A= | CA1949564959 | HBB | c.357T= (p.Phe119=) n.289T= c.*173T= (n.*173T=) | |
| 11 | g.5225685A>C | CA379273716 | HBB | c.357T>G (p.Phe119Leu) n.289T>G c.*173T>G (n.*173T>G) | |
| 11 | g.5225685A>G | CA472638472 | HBB | c.357T>C (p.Phe119=) n.289T>C c.*173T>C (n.*173T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225685A>T | CA379273717 | HBB | c.357T>A (p.Phe119Leu) n.289T>A c.*173T>A (n.*173T>A) | |
| 11 | g.5225687del | CA217112667 | HBB | c.357del (p.Phe119LeufsTer?) n.289del c.*173del (n.*173del) | dbSNP |
| 11 | g.5225686_5225687del | CA2695213018 | HBB | c.356_357del (p.Phe119TrpfsTer21) n.288_289del c.*172_*173del (n.*172_*173del) | |
| 11 | g.5225686A= | CA1949564970 | HBB | c.356T= (p.Phe119=) n.288T= c.*172T= (n.*172T=) | |
| 11 | g.5225686A>C | CA125472 | HBB | c.356T>G (p.Phe119Cys) n.288T>G c.*172T>G (n.*172T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.5225686A>G | CA217112673 | HBB | c.356T>C (p.Phe119Ser) n.288T>C c.*172T>C (n.*172T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225686A>T | CA125028 | HBB | c.356T>A (p.Phe119Tyr) n.288T>A c.*172T>A (n.*172T>A) | ClinVar dbSNP |
| 11 | g.5225687A= | CA1949564982 | HBB | c.355T= (p.Phe119=) n.287T= c.*171T= (n.*171T=) | |
| 11 | g.5225687A>C | CA217112678 | HBB | c.355T>G (p.Phe119Val) n.287T>G c.*171T>G (n.*171T>G) | dbSNP gnomAD v4 |
| 11 | g.5225687A>G | CA379273718 | HBB | c.355T>C (p.Phe119Leu) n.287T>C c.*171T>C (n.*171T>C) | |
| 11 | g.5225687A>T | CA379273719 | HBB | c.355T>A (p.Phe119Ile) n.287T>A c.*171T>A (n.*171T>A) | |
| 11 | g.5225687_5225688delinsAG | CA1949564980 | HBB | c.354_355delinsCT (p.His118=) n.286_287delinsCT c.*170_*171delinsCT (n.*170_*171delinsCT) | |
| 11 | g.5225688del | CA217112680 | HBB | c.354del (p.Phe119LeufsTer?) n.286del c.*170del (n.*170del) | ClinVar dbSNP |
| 11 | g.5225688G>A | CA472638479 | HBB | c.354C>T (p.His118=) n.286C>T c.*170C>T (n.*170C>T) | ClinVar dbSNP |
| 11 | g.5225688G>C | CA379273720 | HBB | c.354C>G (p.His118Gln) n.286C>G c.*170C>G (n.*170C>G) | |
| 11 | g.5225688G= | CA1949564988 | HBB | c.354C= (p.His118=) n.286C= c.*170C= (n.*170C=) | |
| 11 | g.5225688G>T | CA379273721 | HBB | c.354C>A (p.His118Gln) n.286C>A c.*170C>A (n.*170C>A) | |
| 11 | g.5225689T>A | CA379273722 | HBB | c.353A>T (p.His118Leu) n.285A>T c.*169A>T (n.*169A>T) | |
| 11 | g.5225689T>C | CA342868 | HBB | c.353A>G (p.His118Arg) n.285A>G c.*169A>G (n.*169A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225689T>G | CA217112687 | HBB | c.353A>C (p.His118Pro) n.285A>C c.*169A>C (n.*169A>C) | dbSNP |
| 11 | g.5225689T= | CA1949564995 | HBB | c.353A= (p.His118=) n.285A= c.*169A= (n.*169A=) | |
| 11 | g.5225690G>A | CA217112692 | HBB | c.352C>T (p.His118Tyr) n.284C>T c.*168C>T (n.*168C>T) | dbSNP |
| 11 | g.5225690G>C | CA217112695 | HBB | c.352C>G (p.His118Asp) n.284C>G c.*168C>G (n.*168C>G) | dbSNP |
| 11 | g.5225690G= | CA1949564999 | HBB | c.352C= (p.His118=) n.284C= c.*168C= (n.*168C=) | |
| 11 | g.5225690G>T | CA217112698 | HBB | c.352C>A (p.His118Asn) n.284C>A c.*168C>A (n.*168C>A) | dbSNP COSMIC |
| 11 | g.5225691A= | CA1949565004 | HBB | c.351T= (p.His117=) n.283T= c.*167T= (n.*167T=) | |
| 11 | g.5225691A>C | CA217112701 | HBB | c.351T>G (p.His117Gln) n.283T>G c.*167T>G (n.*167T>G) | dbSNP |
| 11 | g.5225691A>G | CA472638487 | HBB | c.351T>C (p.His117=) n.283T>C c.*167T>C (n.*167T>C) | ClinVar dbSNP |
| 11 | g.5225691A>T | CA217112705 | HBB | c.351T>A (p.His117Gln) n.283T>A c.*167T>A (n.*167T>A) | ClinVar dbSNP |
| 11 | g.5225691_5225692insGGGCCAGCACAC | CA217112715 | HBB | c.350_351insGTGTGCTGGCCC (p.His117delinsGlnCysAlaGlyPro) n.282_283insGTGTGCTGGCCC c.*166_*167insGTGTGCTGGCCC (n.*166_*167insGTGTGCTGGCCC) | dbSNP |
| 11 | g.5225692T>A | CA217112709 | HBB | c.350A>T (p.His117Leu) n.282A>T c.*166A>T (n.*166A>T) | dbSNP |
| 11 | g.5225692T>C | CA125090 | HBB | c.350A>G (p.His117Arg) n.282A>G c.*166A>G (n.*166A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.5225692T>G | CA125143 | HBB | c.350A>C (p.His117Pro) n.282A>C c.*166A>C (n.*166A>C) | ClinVar dbSNP |
| 11 | g.5225692T= | CA1949565014 | HBB | c.350A= (p.His117=) n.282A= c.*166A= (n.*166A=) | |
| 11 | g.5225692_5225693insATCA | CA217112718 | HBB | c.349_350insTGAT (p.His117LeufsTer25) n.281_282insTGAT c.*165_*166insTGAT (n.*165_*166insTGAT) | ClinVar dbSNP |
| 11 | g.5225693G>A | CA125486 | HBB | c.349C>T (p.His117Tyr) n.281C>T c.*165C>T (n.*165C>T) | ClinVar dbSNP |
| 11 | g.5225693G>C | CA379273723 | HBB | c.349C>G (p.His117Asp) n.281C>G c.*165C>G (n.*165C>G) | |
| 11 | g.5225693G= | CA1949565022 | HBB | c.349C= (p.His117=) n.281C= c.*165C= (n.*165C=) | |
| 11 | g.5225693G>T | CA379273724 | HBB | c.349C>A (p.His117Asn) n.281C>A c.*165C>A (n.*165C>A) | |
| 11 | g.5225693_5225694delinsC | CA2695213019 | HBB | c.348_349delinsG (p.His117IlefsTer?) n.280_281delinsG c.*164_*165delinsG (n.*164_*165delinsG) | |
| 11 | g.5225695del | CA2695213020 | HBB | c.349del (p.His117IlefsTer?) n.281del c.*165del (n.*165del) | |
| 11 | g.5225693_5225704dup | CA217112723 | HBB | c.338_349dup (p.Ala116_His117insArgValLeuAla) n.270_281dup c.*154_*165dup (n.*154_*165dup) | dbSNP |
| 11 | g.5225694G>A | CA472638502 | HBB | c.348C>T (p.Ala116=) n.280C>T c.*164C>T (n.*164C>T) | ClinVar dbSNP |
| 11 | g.5225694G>C | CA472638498 | HBB | c.348C>G (p.Ala116=) n.280C>G c.*164C>G (n.*164C>G) | |
| 11 | g.5225694G= | CA1949565028 | HBB | c.348C= (p.Ala116=) n.280C= c.*164C= (n.*164C=) | |
| 11 | g.5225694G>T | CA472638500 | HBB | c.348C>A (p.Ala116=) n.280C>A c.*164C>A (n.*164C>A) | |
| 11 | g.5225694_5225697dup | CA2697548368 | HBB | c.345_348dup (p.His117GlyfsTer25) n.277_280dup c.*161_*164dup (n.*161_*164dup) | ClinVar |
| 11 | g.5225695G>A | CA217112727 | HBB | c.347C>T (p.Ala116Val) n.279C>T c.*163C>T (n.*163C>T) | dbSNP |
| 11 | g.5225695G>C | CA379273725 | HBB | c.347C>G (p.Ala116Gly) n.279C>G c.*163C>G (n.*163C>G) | |
| 11 | g.5225695G= | CA1949565035 | HBB | c.347C= (p.Ala116=) n.279C= c.*163C= (n.*163C=) | |
| 11 | g.5225695G>T | CA125396 | HBB | c.347C>A (p.Ala116Asp) n.279C>A c.*163C>A (n.*163C>A) | ClinVar dbSNP |
| 11 | g.5225696C>A | CA379273726 | HBB | c.346G>T (p.Ala116Ser) n.278G>T c.*162G>T (n.*162G>T) | dbSNP |
| 11 | g.5225696C= | CA1949565039 | HBB | c.346G= (p.Ala116=) n.278G= c.*162G= (n.*162G=) | |
| 11 | g.5225696C>G | CA125013 | HBB | c.346G>C (p.Ala116Pro) n.278G>C c.*162G>C (n.*162G>C) | ClinVar dbSNP |
| 11 | g.5225696C>T | CA379273727 | HBB | c.346G>A (p.Ala116Thr) n.278G>A c.*162G>A (n.*162G>A) | |
| 11 | g.5225697del | CA2695213022 | HBB | c.346del (p.Ala116ProfsTer?) n.278del c.*162del (n.*162del) | |
| 11 | g.5225703_5225714del | CA2695213021 | HBB | c.335_346del (p.Val112_Leu115del) n.267_278del c.*151_*162del (n.*151_*162del) | |
| 11 | g.5225697C>A | CA472638508 | HBB | c.345G>T (p.Leu115=) n.277G>T c.*161G>T (n.*161G>T) | |
| 11 | g.5225697C>G | CA472638510 | HBB | c.345G>C (p.Leu115=) n.277G>C c.*161G>C (n.*161G>C) | gnomAD v4 |
| 11 | g.5225697C>T | CA472638512 | HBB | c.345G>A (p.Leu115=) n.277G>A c.*161G>A (n.*161G>A) | gnomAD v4 |
| 11 | g.5225697_5225699delinsCAG | CA1949565049 | HBB | c.343_345delinsCTG (p.Leu115=) n.275_277delinsCTG c.*159_*161delinsCTG (n.*159_*161delinsCTG) | |
| 11 | g.5225700_5225706dup | CA217112734 | HBB | c.339_345dup (p.Ala116CysfsTer27) n.271_277dup c.*155_*161dup (n.*155_*161dup) | ClinVar dbSNP |
| 11 | g.5225698A= | CA1949565060 | HBB | c.344T= (p.Leu115=) n.276T= c.*160T= (n.*160T=) | |
| 11 | g.5225698A>C | CA379273728 | HBB | c.344T>G (p.Leu115Arg) n.276T>G c.*160T>G (n.*160T>G) | |
| 11 | g.5225698A>G | CA125376 | HBB | c.344T>C (p.Leu115Pro) n.276T>C c.*160T>C (n.*160T>C) | ClinVar dbSNP |
| 11 | g.5225698A>T | CA379273729 | HBB | c.344T>A (p.Leu115Gln) n.276T>A c.*160T>A (n.*160T>A) | |
| 11 | g.5225698_5225699delinsC | CA125291 | HBB | c.343_344delinsG (p.Leu115GlyfsTer?) n.275_276delinsG c.*159_*160delinsG (n.*159_*160delinsG) | ClinVar dbSNP |
| 11 | g.5225699G>A | CA472638516 | HBB | c.343C>T (p.Leu115=) n.275C>T c.*159C>T (n.*159C>T) | COSMIC |
| 11 | g.5225699G>C | CA379273730 | HBB | c.343C>G (p.Leu115Val) n.275C>G c.*159C>G (n.*159C>G) | |
| 11 | g.5225699G= | CA1949565072 | HBB | c.343C= (p.Leu115=) n.275C= c.*159C= (n.*159C=) | |
| 11 | g.5225699G>T | CA125343 | HBB | c.343C>A (p.Leu115Met) n.275C>A c.*159C>A (n.*159C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225700C>A | CA472638519 | HBB | c.342G>T (p.Val114=) n.274G>T c.*158G>T (n.*158G>T) | |
| 11 | g.5225700C= | CA1949565076 | HBB | c.342G= (p.Val114=) n.274G= c.*158G= (n.*158G=) | |
| 11 | g.5225700C>G | CA472638520 | HBB | c.342G>C (p.Val114=) n.274G>C c.*158G>C (n.*158G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.5225700C>T | CA472638521 | HBB | c.342G>A (p.Val114=) n.274G>A c.*158G>A (n.*158G>A) | COSMIC |
| 11 | g.5225700dup | CA2697548369 | HBB | c.342dup (p.Leu115AlafsTer26) n.274dup c.*158dup (n.*158dup) | ClinVar |
| 11 | g.5225701A= | CA1949565080 | HBB | c.341T= (p.Val114=) n.273T= c.*157T= (n.*157T=) | |
| 11 | g.5225701A>C | CA379273731 | HBB | c.341T>G (p.Val114Gly) n.273T>G c.*157T>G (n.*157T>G) | |
| 11 | g.5225701A>G | CA379273732 | HBB | c.341T>C (p.Val114Ala) n.273T>C c.*157T>C (n.*157T>C) | |
| 11 | g.5225701A>T | CA125058 | HBB | c.341T>A (p.Val114Glu) n.273T>A c.*157T>A (n.*157T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5225701_5225702delinsAC | CA1949565081 | HBB | c.340_341delinsGT (p.Val114=) n.272_273delinsGT c.*156_*157delinsGT (n.*156_*157delinsGT) | |
| 11 | g.5225702del | CA217112743 | HBB | c.340del (p.Val114CysfsTer?) n.272del c.*156del (n.*156del) | ClinVar dbSNP |
| 11 | g.5225702C>A | CA217112744 | HBB | c.340G>T (p.Val114Leu) n.272G>T c.*156G>T (n.*156G>T) | dbSNP |
| 11 | g.5225702C= | CA1949565089 | HBB | c.340G= (p.Val114=) n.272G= c.*156G= (n.*156G=) | |
| 11 | g.5225702C>G | CA217112745 | HBB | c.340G>C (p.Val114Leu) n.272G>C c.*156G>C (n.*156G>C) | dbSNP |
| 11 | g.5225702C>T | CA5839699 | HBB | c.340G>A (p.Val114Met) n.272G>A c.*156G>A (n.*156G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5225703A= | CA1949565102 | HBB | c.339T= (p.Cys113=) n.271T= c.*155T= (n.*155T=) | |
| 11 | g.5225703A>C | CA217112748 | HBB | c.339T>G (p.Cys113Trp) n.271T>G c.*155T>G (n.*155T>G) | dbSNP |
| 11 | g.5225703A>G | CA472638529 | HBB | c.339T>C (p.Cys113=) n.271T>C c.*155T>C (n.*155T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.5225703A>T | CA217112750 | HBB | c.339T>A (p.Cys113Ter) n.271T>A c.*155T>A (n.*155T>A) | ClinVar dbSNP |
| 11 | g.5225703dup | CA2790275131 | HBB | c.339dup (p.Val114CysfsTer27) n.271dup c.*155dup (n.*155dup) |