| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264192 |
| Start |
157416125:157416125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632C>G |
| AA Mutation |
p.Pro211Arg(p.P211R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264192 |
| Start |
157415710:157415710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1047T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264192 |
| Start |
157427355:157427355(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.542delT |
| AA Mutation |
p.Leu181Ter(p.L181*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |