| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247470 |
| Start |
31201624:31201624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.549G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247470 |
| Start |
31202193:31202193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.285C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247470 |
| Start |
31201619:31201620(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.553_554delCA |
| AA Mutation |
p.Gln185ValfsTer44(p.Q185Vfs*44) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |