| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301420 |
| Start |
50820297:50820297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.353G>C |
| AA Mutation |
p.Ser118Thr(p.S118T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301420 |
| Start |
50819250:50819250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576085704
|
| CDS Mutation |
c.733G>A |
| AA Mutation |
p.Val245Ile(p.V245I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000301420 |
| Start |
50819349:50819349(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.634G>A |
| AA Mutation |
p.Gly212Ser(p.G212S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |