| ID |
2 |
| Mutation Consequence |
coding_sequence_variant;3_prime_UTR_variant |
| Transcription ID |
ENST00000262320 |
| Start |
288111:288126(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2585_*11delACTGATAGGCTGGTGG |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262320 |
| Start |
293713:293713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377025983
|
| CDS Mutation |
c.1961C>T |
| AA Mutation |
p.Ser654Leu(p.S654L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262320 |
| Start |
310044:310044(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369325988
|
| CDS Mutation |
c.1045C>T |
| AA Mutation |
p.Arg349Cys(p.R349C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262320 |
| Start |
297979:297979(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781396391
|
| CDS Mutation |
c.1527C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |