| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319380 |
| Start |
76396638:76396638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777756089
|
| CDS Mutation |
c.2299G>T |
| AA Mutation |
p.Val767Leu(p.V767L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319380 |
| Start |
76399854:76399854(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1223G>T |
| AA Mutation |
p.Arg408Leu(p.R408L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319380 |
| Start |
76400167:76400167(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1135delG |
| AA Mutation |
p.Glu379ArgfsTer8(p.E379Rfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |