| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322019 |
| Start |
83136595:83136595(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1036C>T |
| AA Mutation |
p.Pro346Ser(p.P346S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000322019 |
| Start |
83112882:83112882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322019 |
| Start |
83126803:83126803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757C>T |
| AA Mutation |
p.Gln253Ter(p.Q253*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |