| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300482 |
| Start |
44435163:44435163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs550041022
|
| CDS Mutation |
c.4007G>A |
| AA Mutation |
p.Arg1336His(p.R1336H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300482 |
| Start |
44414002:44414002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138586774
|
| CDS Mutation |
c.3074C>T |
| AA Mutation |
p.Thr1025Met(p.T1025M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000300482 |
| Start |
44418500:44418500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143493112
|
| CDS Mutation |
c.3406C>T |
| AA Mutation |
p.Arg1136Ter(p.R1136*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |