| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373383 |
| Start |
75274343:75274343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.89G>T |
| AA Mutation |
p.Arg30Leu(p.R30L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000373383 |
| Start |
75300905:75300905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.763A>G |
| AA Mutation |
p.Ile255Val(p.I255V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000373383 |
| Start |
75303511:75303511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.930A>T |
| AA Mutation |
p.Ter310TyrextTer3(p.*310Yext*3) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |