| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263168 |
| Start |
112659708:112659708(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514C>T |
| AA Mutation |
p.Arg172Cys(p.R172C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263168 |
| Start |
112669999:112669999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.728T>G |
| AA Mutation |
p.Ile243Ser(p.I243S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263168 |
| Start |
112649450:112649450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.136C>G |
| AA Mutation |
p.Leu46Val(p.L46V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |