| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229030 |
| Start |
130163457:130163457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.515A>C |
| AA Mutation |
p.Gln172Pro(p.Q172P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229030 |
| Start |
130163507:130163507(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.565C>T |
| AA Mutation |
p.Arg189Cys(p.R189C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000229030 |
| Start |
130163770:130163770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.828C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |