| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203223226:203223226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514A>C |
| AA Mutation |
p.Thr172Pro(p.T172P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203223592:203223592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772756608
|
| CDS Mutation |
c.383G>A |
| AA Mutation |
p.Arg128His(p.R128H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367229 |
| Start |
203225074:203225074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs539275442
|
| CDS Mutation |
c.288C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |