| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263253 |
| Start |
41176353:41176353(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4886C>T |
| AA Mutation |
p.Ala1629Val(p.A1629V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263253 |
| Start |
41177302:41177302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5591C>G |
| AA Mutation |
p.Thr1864Ser(p.T1864S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263253 |
| Start |
41178498:41178498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6787C>T |
| AA Mutation |
p.Arg2263Ter(p.R2263*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |