| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371953 |
| Start |
87894078:87894078(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.133delG |
| AA Mutation |
p.Val45TyrfsTer9(p.V45Yfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371953 |
| Start |
87933147:87933147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121909224
|
| CDS Mutation |
c.388C>T |
| AA Mutation |
p.Arg130Ter(p.R130*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371953 |
| Start |
87958005:87958005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.787A>T |
| AA Mutation |
p.Lys263Ter(p.K263*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |