| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000289746 |
| Start |
89180228:89180228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.230G>T |
| AA Mutation |
p.Ser77Ile(p.S77I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000289746 |
| Start |
89191810:89191810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1531C>T |
| AA Mutation |
p.Pro511Ser(p.P511S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000289746 |
| Start |
89193798:89193798(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2036delG |
| AA Mutation |
p.Ser679ThrfsTer71(p.S679Tfs*71) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |