| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336498 |
| Start |
148072076:148072076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2356C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000336498 |
| Start |
147732332:147732333(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.32_35dupGCTA |
| AA Mutation |
p.Tyr12Ter(p.Y12*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000336498 |
| Start |
147822959:147822959(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.312+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |