| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356608 |
| Start |
48198208:48198208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2150G>A |
| AA Mutation |
p.Ser717Asn(p.S717N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356608 |
| Start |
48224361:48224361(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.464T>C |
| AA Mutation |
p.Met155Thr(p.M155T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356608 |
| Start |
48200299:48200299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs16945928
|
| CDS Mutation |
c.2059G>A |
| AA Mutation |
p.Val687Ile(p.V687I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |