| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360971 |
| Start |
131858704:131858704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.752T>C |
| AA Mutation |
p.Val251Ala(p.V251A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360971 |
| Start |
131883748:131883748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2285T>C |
| AA Mutation |
p.Ile762Thr(p.I762T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360971 |
| Start |
131877095:131877095(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1831delC |
| AA Mutation |
p.Leu611TrpfsTer34(p.L611Wfs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |