| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000462833 |
| Start |
123447753:123447753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.793C>A |
| AA Mutation |
p.Pro265Thr(p.P265T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000462833 |
| Start |
123447937:123447937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.609G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000462833 |
| Start |
123284648:123284648(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3746delT |
| AA Mutation |
p.Met1249ArgfsTer2(p.M1249Rfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |