| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262367 |
| Start |
3728619:3728619(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6428A>G |
| AA Mutation |
p.Asn2143Ser(p.N2143S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262367 |
| Start |
3793531:3793531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1071G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000262367 |
| Start |
3757811:3757811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3607A>T |
| AA Mutation |
p.Lys1203Ter(p.K1203*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |