From: Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
Transcript Variant | Protein Variant | Gene Region | Variant Type | Activity | Classification | Impact | CADD Score | dbSNP ID | AFC Freq. | 1000 Genomes Freq. |
---|---|---|---|---|---|---|---|---|---|---|
c.6115 + 103 T > C | Intronic | SNV | normal | Benign |  | <  10 | 4,074,307 | 22.442 | 44.079 | |
c.5998 + 91 T > A | Intronic | SNV | normal | Benign |  | <  10 | 4,898,352 | 22.653 | 44.132 | |
c.5411_5413delTCT | p.F1804del | Exonic | Deletion | loss | Likely Pathogenic | in-frame | * | Â | Â | Â |
c.3780C > G | p.D1260E | Exonic | SNV | gain | Benign | missense | <  10 | 1,800,291 | 18.924 | 25.642 |
c.1010-27G > A | Intronic | SNV | normal | Benign |  | <  10 | 7,058,826 | 11.328 | 7.735 |