| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269305 |
| Start |
7674221:7674221(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121912651
|
| CDS Mutation |
c.742C>T |
| AA Mutation |
p.Arg248Trp(p.R248W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269305 |
| Start |
7674241:7674241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs28934573
|
| CDS Mutation |
c.722C>T |
| AA Mutation |
p.Ser241Phe(p.S241F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269305 |
| Start |
7670686:7670687(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1022_1023insA |
| AA Mutation |
p.Phe341LeufsTer6(p.F341Lfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |