| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55811000:55811000(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1094G>C |
| AA Mutation |
p.Ser365Thr(p.S365T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361503 |
| Start |
55833031:55833031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.25G>A |
| AA Mutation |
p.Ala9Thr(p.A9T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361503 |
| Start |
55828803:55828803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.221G>A |
| AA Mutation |
p.Trp74Ter(p.W74*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |