| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374541 |
| Start |
109438219:109438219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.482A>G |
| AA Mutation |
p.Tyr161Cys(p.Y161C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374541 |
| Start |
109389325:109389326(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2160_2161delCC |
| AA Mutation |
p.Leu721AlafsTer90(p.L721Afs*90) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374541 |
| Start |
109383502:109383502(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2303delG |
| AA Mutation |
p.Gly768AlafsTer34(p.G768Afs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |