| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287934 |
| Start |
91266678:91266678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1798T>G |
| AA Mutation |
p.Phe600Val(p.F600V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287934 |
| Start |
91266548:91266548(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1668C>A |
| AA Mutation |
p.Phe556Leu(p.F556L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000287934 |
| Start |
91266143:91266144(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1264dupA |
| AA Mutation |
p.Ile422AsnfsTer61(p.I422Nfs*61) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |