| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308488 |
| Start |
77698537:77698537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2665G>T |
| AA Mutation |
p.Asp889Tyr(p.D889Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308488 |
| Start |
77698615:77698615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2587G>A |
| AA Mutation |
p.Glu863Lys(p.E863K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000308488 |
| Start |
77700831:77700831(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2398delA |
| AA Mutation |
p.Arg800GlufsTer24(p.R800Efs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |