| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350498 |
| Start |
99396711:99396711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.517C>G |
| AA Mutation |
p.Arg173Gly(p.R173G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350498 |
| Start |
99404926:99404926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.41C>T |
| AA Mutation |
p.Ala14Val(p.A14V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000350498 |
| Start |
99404868:99404870(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.97_99delAAG |
| AA Mutation |
p.Lys33del(p.K33del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |