| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330452 |
| Start |
53186170:53186170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1090C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330452 |
| Start |
53178495:53178495(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.73C>T |
| AA Mutation |
p.Gln25Ter(p.Q25*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
splice_donor_variant;intron_variant |
| Transcription ID |
ENST00000330452 |
| Start |
53181733:53181736(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.571+3_571+6delAAGT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |