| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313375 |
| Start |
73596176:73596176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2035C>T |
| AA Mutation |
p.Leu679Phe(p.L679F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000313375 |
| Start |
73597686:73597686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375307110
|
| CDS Mutation |
c.1099G>A |
| AA Mutation |
p.Asp367Asn(p.D367N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313375 |
| Start |
73595676:73595676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781875960
|
| CDS Mutation |
c.2271C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |