| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370818 |
| Start |
133753922:133753922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592C>T |
| AA Mutation |
p.Leu198Phe(p.L198F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370818 |
| Start |
133754032:133754032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.482T>A |
| AA Mutation |
p.Ile161Asn(p.I161N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370818 |
| Start |
133753774:133753774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740A>C |
| AA Mutation |
p.Lys247Thr(p.K247T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |