| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4433177:4433177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772551130
|
| CDS Mutation |
c.2311G>A |
| AA Mutation |
p.Gly771Ser(p.G771S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4423375:4423375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs573779621
|
| CDS Mutation |
c.1288C>T |
| AA Mutation |
p.Arg430Trp(p.R430W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301280 |
| Start |
4409564:4409567(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.767_770delTTCC |
| AA Mutation |
p.Leu256GlnfsTer9(p.L256Qfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |