| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458235 |
| Start |
17826800:17826800(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3318G>C |
| AA Mutation |
p.Glu1106Asp(p.E1106D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458235 |
| Start |
17831331:17831331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2875A>C |
| AA Mutation |
p.Ser959Arg(p.S959R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000458235 |
| Start |
17831321:17831321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2885A>T |
| AA Mutation |
p.His962Leu(p.H962L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |