| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242208 |
| Start |
41690471:41690471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.460G>A |
| AA Mutation |
p.Glu154Lys(p.E154K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000242208 |
| Start |
41689796:41689796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1135C>T |
| AA Mutation |
p.Arg379Trp(p.R379W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000242208 |
| Start |
41690408:41690408(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.523delC |
| AA Mutation |
p.Leu175SerfsTer23(p.L175Sfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |