| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29983261:29983261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1189C>T |
| AA Mutation |
p.Arg397Trp(p.R397W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29987376:29987376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3104G>T |
| AA Mutation |
p.Arg1035Leu(p.R1035L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308893 |
| Start |
29979053:29979053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.432C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |