| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000265080 |
| Start |
81068178:81068178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.542A>T |
| AA Mutation |
p.Glu181Val(p.E181V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265080 |
| Start |
81080706:81080706(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078G>A |
| AA Mutation |
p.Asp360Asn(p.D360N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265080 |
| Start |
81092902:81092902(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1494delT |
| AA Mutation |
p.Phe498LeufsTer6(p.F498Lfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |