| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334793 |
| Start |
47438533:47438533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.398T>C |
| AA Mutation |
p.Ile133Thr(p.I133T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334793 |
| Start |
47438865:47438865(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.730C>T |
| AA Mutation |
p.Arg244Cys(p.R244C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334793 |
| Start |
47439344:47439344(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1209C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |