| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378888 |
| Start |
1342100:1342100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147424815
|
| CDS Mutation |
c.419T>C |
| AA Mutation |
p.Met140Thr(p.M140T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378888 |
| Start |
1339299:1339299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1195C>A |
| AA Mutation |
p.Pro399Thr(p.P399T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000378888 |
| Start |
1339393:1339395(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1099_1101delACG |
| AA Mutation |
p.Thr367del(p.T367del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |