| ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000341099 |
| Start |
64260531:64260531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.870C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000341099 |
| Start |
64279997:64279997(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.519delT |
| AA Mutation |
p.Phe173LeufsTer43(p.F173Lfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000341099 |
| Start |
64257312:64257312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1005G>A |
| AA Mutation |
p.Trp335Ter(p.W335*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |