| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338034 |
| Start |
12992985:12992985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2314G>C |
| AA Mutation |
p.Ala772Pro(p.A772P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338034 |
| Start |
12994494:12994494(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2039C>T |
| AA Mutation |
p.Ala680Val(p.A680V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338034 |
| Start |
13003556:13003556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1002T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |