| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000318041 |
| Start |
34657515:34657515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754675321
|
| CDS Mutation |
c.574C>T |
| AA Mutation |
p.Arg192Trp(p.R192W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000318041 |
| Start |
34660541:34660541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753549768
|
| CDS Mutation |
c.1110G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000318041 |
| Start |
34657127:34657128(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.427dupC |
| AA Mutation |
p.Arg143ProfsTer15(p.R143Pfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |