| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000601181 |
| Start |
42428967:42428967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.277C>A |
| AA Mutation |
p.His93Asn(p.H93N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000601181 |
| Start |
42433058:42433058(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151260095
|
| CDS Mutation |
c.180G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000601181 |
| Start |
42433857:42433857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.80-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |