| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323760 |
| Start |
138292066:138292066(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.666C>A |
| AA Mutation |
p.Asn222Lys(p.N222K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000323760 |
| Start |
138329582:138329582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.260T>A |
| AA Mutation |
p.Leu87His(p.L87H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000323760 |
| Start |
138289499:138289499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.927+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |