| 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.5225608_5225617delinsTTGTGGGCCA | CA1949564157 | HBB | c.425_434delinsTGGCCCACAA (p.Leu142=) c.*241_*250delinsTGGCCCACAA (n.*241_*250delinsTGGCCCACAA) | |
| 11 | g.5225609_5225617del | CA125332 | HBB | c.425_433del (p.Leu142_Lys145delinsGln) c.*241_*249del (n.*241_*249del) | ClinVar dbSNP |
| 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 |