| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376687 |
| Start |
48706307:48706307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.871G>T |
| AA Mutation |
p.Asp291Tyr(p.D291Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376687 |
| Start |
48700356:48700356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.431G>A |
| AA Mutation |
p.Arg144His(p.R144H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376687 |
| Start |
48700513:48700513(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.592delG |
| AA Mutation |
p.Ala198ArgfsTer140(p.A198Rfs*140) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |