| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000373247 |
| Start |
127808834:127808834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1005C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373247 |
| Start |
127804312:127804312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.166C>T |
| AA Mutation |
p.Gln56Ter(p.Q56*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000373247 |
| Start |
127810108:127810108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |