| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367814 |
| Start |
135190155:135190155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.335C>T |
| AA Mutation |
p.Pro112Leu(p.P112L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367814 |
| Start |
135193870:135193870(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.795A>C |
| AA Mutation |
p.Leu265Phe(p.L265F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367814 |
| Start |
135200201:135200201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1461+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |