| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320580 |
| Start |
66216735:66216735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.938A>C |
| AA Mutation |
p.Lys313Thr(p.K313T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320580 |
| Start |
66211159:66211159(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.560C>T |
| AA Mutation |
p.Ala187Val(p.A187V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320580 |
| Start |
66235341:66235341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150214972
|
| CDS Mutation |
c.2145C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |