| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260227 |
| Start |
102527628:102527628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380G>T |
| AA Mutation |
p.Arg127Leu(p.R127L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260227 |
| Start |
102523308:102523308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.707A>T |
| AA Mutation |
p.Tyr236Phe(p.Y236F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260227 |
| Start |
102525035:102525035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.514C>T |
| AA Mutation |
p.Pro172Ser(p.P172S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |