| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355237 |
| Start |
69509649:69509649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.559T>C |
| AA Mutation |
p.Phe187Leu(p.F187L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000355237 |
| Start |
69534839:69534839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1037C>T |
| AA Mutation |
p.Pro346Leu(p.P346L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355237 |
| Start |
69509272:69509272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182C>A |
| AA Mutation |
p.Pro61His(p.P61H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |