| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264908 |
| Start |
78573234:78573234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.70G>T |
| AA Mutation |
p.Ala24Ser(p.A24S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264908 |
| Start |
78582230:78582230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.252G>A |
| AA Mutation |
p.Met84Ile(p.M84I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264908 |
| Start |
78554488:78554488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.15G>T |
| AA Mutation |
p.Trp5Cys(p.W5C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |