| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397760 |
| Start |
22585156:22585156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.455G>A |
| AA Mutation |
p.Ser152Asn(p.S152N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397760 |
| Start |
22585325:22585325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.466C>A |
| AA Mutation |
p.Gln156Lys(p.Q156K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000397760 |
| Start |
22585017:22585017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.316G>A |
| AA Mutation |
p.Gly106Ser(p.G106S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |