| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294854 |
| Start |
182474192:182474192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1081A>T |
| AA Mutation |
p.Ile361Phe(p.I361F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000294854 |
| Start |
182530360:182530360(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2242T>G |
| AA Mutation |
p.Trp748Gly(p.W748G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000294854 |
| Start |
182489106:182489106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1621G>T |
| AA Mutation |
p.Glu541Ter(p.E541*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |