| cDNA position* |
Site of variant |
Variant name^ |
Consequence |
Patient |
rs number |
| c.297C >T |
exon 5 |
p.Thr99= |
synonymous |
PF4 |
rs11539873 |
| c.399-35G >A |
intron 5 |
|
|
PF2 |
rs11591594 |
| c.507+61C >G |
intron 6 |
|
|
PF1, PF4 |
rs1886728 |
| c.636C >T |
exon 7 |
p.Leu212= |
synonymous |
PF1, PF3 |
rs1801287 |
| c.937+78C >T |
intron 10 |
|
|
PF4 |
rs1061134 |
| c.937+88C >T |
intron 10 |
|
|
PF4 |
rs34533614 |
| c.1187delC |
exon 13 |
p.Q397SfsX1 |
frameshift |
PF1 |
|
| c.1315C >T |
exon 13 |
p.R439X |
stop codon |
PF1 |
|
| c.1335+48G >A |
intron 13 |
|
|
PF4 |
rs41317034 |
| c.1397+7G >C |
intron 14 |
|
|
PF3 |
rs2296432 |
| c.1397+8G >C |
intron 14 |
|
|
PF3 |
rs2296433 |
| c.1472C >G |
exon 15 |
p.Pro491Arg |
nonsynonymous |
PF4 |
rs2296434 |
| c.1808A >G |
exon 18 |
p.Gln603Arg |
nonsynonymous |
PF4 |
rs2296436 |
*based on accesion number NM_000195.3
^based on accesion number NP_000186.2 |
