| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300417 |
| Start |
127473820:127473820(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.644delC |
| AA Mutation |
p.Pro215LeufsTer33(p.P215Lfs*33) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000300417 |
| Start |
127462344:127462344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.499C>T |
| AA Mutation |
p.Gln167Ter(p.Q167*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000300417 |
| Start |
127489453:127489453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1357C>T |
| AA Mutation |
p.Gln453Ter(p.Q453*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |