| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000230340 |
| Start |
41932565:41932565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1173C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000230340 |
| Start |
41921592:41921592(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs768665277
|
| CDS Mutation |
c.35delG |
| AA Mutation |
p.Gly12ValfsTer43(p.G12Vfs*43) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000230340 |
| Start |
41921591:41921592(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.35dupG |
| AA Mutation |
p.Gln13SerfsTer88(p.Q13Sfs*88) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |