| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343344 |
| Start |
12666227:12666227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.39G>T |
| AA Mutation |
p.Arg13Ser(p.R13S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343344 |
| Start |
12722978:12722978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385G>T |
| AA Mutation |
p.Val129Leu(p.V129L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000343344 |
| Start |
12763170:12763170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2343C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |