| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000245503 |
| Start |
10543994:10543994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.556A>C |
| AA Mutation |
p.Thr186Pro(p.T186P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000245503 |
| Start |
10529630:10529630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3051G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000245503 |
| Start |
10529460:10529460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3139G>T |
| AA Mutation |
p.Glu1047Ter(p.E1047*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |