| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227023298:227023298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4514C>A |
| AA Mutation |
p.Thr1505Asn(p.T1505N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227029161:227029161(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267598394
|
| CDS Mutation |
c.3862C>T |
| AA Mutation |
p.Arg1288Cys(p.R1288C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334218 |
| Start |
227035573:227035573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3168C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |