| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366554 |
| Start |
241604552:241604552(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs117720055
|
| CDS Mutation |
c.401T>C |
| AA Mutation |
p.Val134Ala(p.V134A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366554 |
| Start |
241640018:241640018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.237C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366554 |
| Start |
241604498:241604499(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.454dupT |
| AA Mutation |
p.Ser152PhefsTer99(p.S152Ffs*99) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |