| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442488 |
| Start |
122304151:122304151(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777966600
|
| CDS Mutation |
c.287G>A |
| AA Mutation |
p.Arg96Gln(p.R96Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000442488 |
| Start |
122304202:122304202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765948560
|
| CDS Mutation |
c.236C>A |
| AA Mutation |
p.Pro79His(p.P79H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000442488 |
| Start |
122303716:122303717(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.721dupA |
| AA Mutation |
p.Ile241AsnfsTer14(p.I241Nfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |