| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262055 |
| Start |
51055905:51055905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.544A>G |
| AA Mutation |
p.Ile182Val(p.I182V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262055 |
| Start |
51048466:51048466(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.115delG |
| AA Mutation |
p.Ala39ProfsTer15(p.A39Pfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262055 |
| Start |
51056225:51056225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.742C>T |
| AA Mutation |
p.Gln248Ter(p.Q248*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |