| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97644784:97644784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754496543
|
| CDS Mutation |
c.278C>T |
| AA Mutation |
p.Ala93Val(p.A93V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97687479:97687479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.619C>T |
| AA Mutation |
p.Arg207Cys(p.R207C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336273 |
| Start |
97691010:97691011(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.871_872delGT |
| AA Mutation |
p.Val291LysfsTer10(p.V291Kfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |