| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295206 |
| Start |
118843198:118843198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.919C>T |
| AA Mutation |
p.Arg307Trp(p.R307W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000295206 |
| Start |
118846796:118846796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.372G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295206 |
| Start |
118846851:118846851(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.317delT |
| AA Mutation |
p.Phe106SerfsTer6(p.F106Sfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |