| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342788 |
| Start |
211630526:211630526(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2015C>A |
| AA Mutation |
p.Ala672Asp(p.A672D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000342788 |
| Start |
211725178:211725178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.639T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000342788 |
| Start |
211386904:211386904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3430G>T |
| AA Mutation |
p.Glu1144Ter(p.E1144*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |