| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263686 |
| Start |
169609594:169609594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199507095
|
| CDS Mutation |
c.1243C>T |
| AA Mutation |
p.Arg415Cys(p.R415C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263686 |
| Start |
169619140:169619140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.83C>T |
| AA Mutation |
p.Ala28Val(p.A28V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263686 |
| Start |
169617351:169617351(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.158G>A |
| AA Mutation |
p.Trp53Ter(p.W53*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |