| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361523 |
| Start |
42811748:42811748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1091A>G |
| AA Mutation |
p.Lys364Arg(p.K364R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361523 |
| Start |
42814542:42814542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.962T>C |
| AA Mutation |
p.Met321Thr(p.M321T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361523 |
| Start |
42819554:42819554(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.254delC |
| AA Mutation |
p.Pro85GlnfsTer4(p.P85Qfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |