| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000480456 |
| Start |
25705993:25705993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201705901
|
| CDS Mutation |
c.712A>G |
| AA Mutation |
p.Ser238Gly(p.S238G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000480456 |
| Start |
25714659:25714659(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.884C>G |
| AA Mutation |
p.Ser295Cys(p.S295C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000480456 |
| Start |
25689975:25689975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.241+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |