| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000240874 |
| Start |
124482861:124482861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4239G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360013 |
| Start |
124562915:124562915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5002C>T |
| AA Mutation |
p.Gln1668Ter(p.Q1668*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000291478 |
| Start |
124713007:124713008(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3064dupA |
| AA Mutation |
p.Met1022AsnfsTer27(p.M1022Nfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |