| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341514 |
| Start |
77989254:77989254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632C>A |
| AA Mutation |
p.Ala211Asp(p.A211D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341514 |
| Start |
78033725:78033725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3415G>T |
| AA Mutation |
p.Asp1139Tyr(p.D1139Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341514 |
| Start |
77989413:77989413(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.791A>T |
| AA Mutation |
p.Glu264Val(p.E264V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |