| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41516808:41516808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.738G>T |
| AA Mutation |
p.Glu246Asp(p.E246D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41516933:41516933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138271368
|
| CDS Mutation |
c.613G>A |
| AA Mutation |
p.Val205Ile(p.V205I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000254043 |
| Start |
41514676:41514676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1248-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |