Gene/Locus | Position mutated | Amino acid change | Reference |
---|---|---|---|
p.R73L; p.R73C | [ |
||
pR18 | [ |
||
p.Asn242Ser | [ |
||
p.Arg110Gly; p.Ser771Pro; p.Arg764*; p.Gly132Ala; p.Ser159Pro; p.Met252Thr; p.Tyr513*; p.Ala145Ser | [ |
||
c.230C>G | p.Ser77* | [ |
|
c.230C>G | [ |
||
c.428delG | [ |
||
c.1810G>A | p.Glu604Lys | [ |
|
c.6012-12T>A | [ |
||
c.6012-12T>A | [ |
||
c.1064C>T | p.T355M | [ |
|
c.2258C>T | p.P753L | [ |
|
c.1565G>C | p.Gly552Ala | [ |
|
c.703dupA | p.Arg235LysfsTer12 | [ |
|
c.2212C>T | p.Arg738Ter | [ |
|
p.Thr304AsnfsX6 | [ |
||
c.832C>T | p.Gln278Ter | [ |
|
c.899A>G, c.1814C>G, c.2107C>T | [ |
||
c.1073C>T, c.1669C>T | [ |
||
c.3582C>G, c.5704-5C>G | [ |
Gene/Locus | Amino acid change | Population | Reference |
---|---|---|---|
p.R73L | Ashkenazi population | [ |
|
pR18 | Hutterites community | [ |
|
p.Asn242Ser | Iranian families | [ |
|
p.Arg110Gly; | Japanese | [ |
|
p.Ser771Pro; | |||
p.Arg764*; | |||
p.Gly132Ala; | |||
p.Ser159Pro; | |||
p.Met252Thr; | |||
p.Tyr513*; | |||
p.Ala145Ser | |||
c.5493delA, p.(A1832fs*19) | Kosovo | [ |