| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360214 |
| Start |
38822853:38822853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753377257
|
| CDS Mutation |
c.1374C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360214 |
| Start |
38817056:38817057(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556_557dupTC |
| AA Mutation |
p.Val187ProfsTer11(p.V187Pfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
start_lost;splice_region_variant |
| Transcription ID |
ENST00000360214 |
| Start |
38810036:38810036(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2T>C |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |