| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308167 |
| Start |
130069466:130069466(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1021delC |
| AA Mutation |
p.Gln341ArgfsTer30(p.Q341Rfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308167 |
| Start |
130067023:130067023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1690G>T |
| AA Mutation |
p.Glu564Ter(p.E564*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308167 |
| Start |
130072301:130072301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.457C>T |
| AA Mutation |
p.Gln153Ter(p.Q153*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |