| ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000434687 |
| Start |
213013921:213013921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.726A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000434687 |
| Start |
213007554:213007554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1387G>T |
| AA Mutation |
p.Gly463Ter(p.G463*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000434687 |
| Start |
213007786:213007787(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1154dupC |
| AA Mutation |
p.Leu386SerfsTer18(p.L386Sfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |