| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408903 |
| Start |
113488280:113488280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.135G>C |
| AA Mutation |
p.Gln45His(p.Q45H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302475 |
| Start |
113027452:113027452(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2340G>C |
| AA Mutation |
p.Lys780Asn(p.K780N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000408903 |
| Start |
113385166:113385166(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.217G>T |
| AA Mutation |
p.Val73Leu(p.V73L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |