| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374045 |
| Start |
114805850:114805850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.163C>T |
| AA Mutation |
p.Leu55Phe(p.L55F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374045 |
| Start |
114790465:114790465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.743C>T |
| AA Mutation |
p.Ala248Val(p.A248V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374045 |
| Start |
114805806:114805806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.207C>G |
| AA Mutation |
p.Phe69Leu(p.F69L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |