| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318967 |
| Start |
153770698:153770698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2517C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000318967 |
| Start |
153767829:153767829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2244+2T>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000318967 |
| Start |
153768933:153768938(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2287_2292delATCGTG |
| AA Mutation |
p.Ile763_Val764del(p.I763_V764del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |