| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361507 |
| Start |
78226863:78226863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809G>A |
| AA Mutation |
p.Arg270His(p.R270H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361507 |
| Start |
78280766:78280766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.211G>A |
| AA Mutation |
p.Ala71Thr(p.A71T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361507 |
| Start |
78223444:78223444(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1535delC |
| AA Mutation |
p.Pro512LeufsTer19(p.P512Lfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |