Database ID | Exon | DNA change | status | Protein Change | Ethnicity | Reference |
---|---|---|---|---|---|---|
VIPAR_00001 | 1 | c.2 T > G | Hom | p.(Met1Arg) | Turkish | [4] |
VIPAR_00021 | 6 | c.463_464del | Het | p.(Trp155Glufs*4) | Caucasian | [14] |
VIPAR_00022 | 6 | c.484C > T | Het | p.(Arg162*) | Caucasian | [14] |
VIPAR_00002 | 7 | c.535C > T | Hom | p.(Gln179*) | Turkish | [4] |
VIPAR_00023 | 9 | c.638 T > C | Het | p.(Leu213Pro) | - | [14] |
VIPAR_00003 | 9 | c.658C > T | Hom | p.(Arg220*) | Italian | [4] |
VIPAR_00003 | 9 | c.658C > T | Het | p.(Arg220*) | Turkish | [4] |
VIPAR_00007 | 10 | c.749_753del | Hom | p.(Thr250Argfs*17) | Croatian | [4] |
VIPAR_00004 | 11 | c.808C > T | Hom | p.(Arg270*) | Israel | |
VIPAR_00020 | 11i | c.837-1G > T | Hom | p.(?) | - | [14] |
VIPAR_00005 | 12 | c.871C > T | Het | p.(Gln291*) | Turkish | [4] |
VIPAR_00019 | 13 | c.1021 T > C | Hom | p.(Cys341Arg) | Pakistani | [14] |
VIPAR_00006 | 17 | c.1273C > T | Hom | p.(Gln425*) | Turkish | [4] |