| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262262 |
| Start |
51225123:51225123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5C>T |
| AA Mutation |
p.Pro2Leu(p.P2L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262262 |
| Start |
51225861:51225861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.477A>C |
| AA Mutation |
p.Lys159Asn(p.K159N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262262 |
| Start |
51225267:51225267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756350153
|
| CDS Mutation |
c.87G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |