Gene >> PIR
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380420 |
| Start |
15385053:15385053(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.824A>C |
| AA Mutation |
p.Lys275Thr(p.K275T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000380420 |
| Start |
15479812:15479823(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.97-2_106delAGTTAAAAAATC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |