| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374672 |
| Start |
107487060:107487060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1232C>A |
| AA Mutation |
p.Ser411Tyr(p.S411Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374672 |
| Start |
107487438:107487439(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.955dupC |
| AA Mutation |
p.Leu319ProfsTer4(p.L319Pfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000374672 |
| Start |
107485927:107485927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1265-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |