| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127604751:127604751(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380G>C |
| AA Mutation |
p.Gly127Ala(p.G127A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127618005:127618005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1937A>G |
| AA Mutation |
p.Asn646Ser(p.N646S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265056 |
| Start |
127608449:127608449(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1169T>A |
| AA Mutation |
p.Leu390Gln(p.L390Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |