| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373264 |
| Start |
127788664:127788664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.725G>T |
| AA Mutation |
p.Ser242Ile(p.S242I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373264 |
| Start |
127789344:127789344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.920A>T |
| AA Mutation |
p.Asp307Val(p.D307V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373264 |
| Start |
127788230:127788230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.449T>C |
| AA Mutation |
p.Met150Thr(p.M150T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |