| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360631 |
| Start |
35793473:35793473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1951G>A |
| AA Mutation |
p.Gly651Ser(p.G651S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360631 |
| Start |
36125962:36125962(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.176T>C |
| AA Mutation |
p.Val59Ala(p.V59A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360631 |
| Start |
35793458:35793458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1966G>T |
| AA Mutation |
p.Glu656Ter(p.E656*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |