| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39302753:39302753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199688793
|
| CDS Mutation |
c.2327G>A |
| AA Mutation |
p.Arg776Gln(p.R776Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39320418:39320418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1060C>G |
| AA Mutation |
p.Pro354Ala(p.P354A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381897 |
| Start |
39342433:39342434(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.242dupA |
| AA Mutation |
p.Asn81LysfsTer14(p.N81Kfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |