| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94176667:94176667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.298G>C |
| AA Mutation |
p.Asp100His(p.D100H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94170454:94170454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751015132
|
| CDS Mutation |
c.1009C>T |
| AA Mutation |
p.Pro337Ser(p.P337S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000027335 |
| Start |
94173894:94173894(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.686C>T |
| AA Mutation |
p.Ser229Phe(p.S229F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |