| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373004 |
| Start |
100665264:100665264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768629864
|
| CDS Mutation |
c.554G>A |
| AA Mutation |
p.Arg185His(p.R185H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373004 |
| Start |
100665259:100665259(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.549delG |
| AA Mutation |
p.Ile184SerfsTer16(p.I184Sfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000373004 |
| Start |
100669338:100669338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1186C>T |
| AA Mutation |
p.Gln396Ter(p.Q396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |