| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
25897646:25897646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1991A>T |
| AA Mutation |
p.Glu664Val(p.E664V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000346798 |
| Start |
26000132:26000132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.916C>T |
| AA Mutation |
p.Arg306Cys(p.R306C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000346798 |
| Start |
25955730:25955730(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1484delA |
| AA Mutation |
p.Lys495ArgfsTer15(p.K495Rfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |