| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000533904 |
| Start |
125672633:125672633(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.758T>G |
| AA Mutation |
p.Ile253Ser(p.I253S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000533904 |
| Start |
125676396:125676396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.636G>T |
| AA Mutation |
p.Gln212His(p.Q212H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000533904 |
| Start |
125678188:125678188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.162T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |