| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392369 |
| Start |
130875667:130875667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.491T>G |
| AA Mutation |
p.Leu164Arg(p.L164R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000392369 |
| Start |
130873026:130873026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.145C>A |
| AA Mutation |
p.Pro49Thr(p.P49T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000392369 |
| Start |
130873025:130873025(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.144T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |