| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1207150:1207150(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.238delC |
| AA Mutation |
p.Leu80SerfsTer16(p.L80Sfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326873 |
| Start |
1220641:1220641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.658C>T |
| AA Mutation |
p.Gln220Ter(p.Q220*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326873 |
| Start |
1226531:1226531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1186G>T |
| AA Mutation |
p.Glu396Ter(p.E396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |