| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340369 |
| Start |
39186175:39186175(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3271G>A |
| AA Mutation |
p.Asp1091Asn(p.D1091N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340369 |
| Start |
39189154:39189154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.292T>G |
| AA Mutation |
p.Phe98Val(p.F98V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000340369 |
| Start |
39187843:39187843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749599115
|
| CDS Mutation |
c.1603C>T |
| AA Mutation |
p.Arg535Trp(p.R535W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |