| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257552 |
| Start |
120345599:120345599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1081T>C |
| AA Mutation |
p.Tyr361His(p.Y361H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257552 |
| Start |
120356910:120356910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.644G>A |
| AA Mutation |
p.Gly215Asp(p.G215D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257552 |
| Start |
120363100:120363100(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345delG |
| AA Mutation |
p.Leu116CysfsTer3(p.L116Cfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |