| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265171 |
| Start |
109988613:109988613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2638G>A |
| AA Mutation |
p.Val880Met(p.V880M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265171 |
| Start |
109943375:109943375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.449C>T |
| AA Mutation |
p.Ser150Phe(p.S150F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265171 |
| Start |
109976164:109976164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761236090
|
| CDS Mutation |
c.1982C>T |
| AA Mutation |
p.Ala661Val(p.A661V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |