| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000174618 |
| Start |
2387283:2387283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1367A>G |
| AA Mutation |
p.Asn456Ser(p.N456S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000174618 |
| Start |
2394956:2394956(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.572C>T |
| AA Mutation |
p.Pro191Leu(p.P191L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000174618 |
| Start |
2395119:2395119(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.409delC |
| AA Mutation |
p.Leu137CysfsTer38(p.L137Cfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |