| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250559 |
| Start |
68657119:68657119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774912763
|
| CDS Mutation |
c.487C>T |
| AA Mutation |
p.Arg163Trp(p.R163W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000250559 |
| Start |
68656430:68656430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.449C>A |
| AA Mutation |
p.Ser150Ter(p.S150*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000250559 |
| Start |
68650421:68650422(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.84dupT |
| AA Mutation |
p.Val29CysfsTer13(p.V29Cfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |