| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7117397:7117397(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371841833
|
| CDS Mutation |
c.3808C>T |
| AA Mutation |
p.Arg1270Cys(p.R1270C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7142927:7142927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs35045353
|
| CDS Mutation |
c.2431G>A |
| AA Mutation |
p.Gly811Ser(p.G811S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302850 |
| Start |
7172354:7172354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1204G>A |
| AA Mutation |
p.Ala402Thr(p.A402T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |