Gene >> ACTG1
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331925 |
| Start |
81510815:81510815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1003C>T |
| AA Mutation |
p.Arg335Cys(p.R335C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000331925 |
| Start |
81512116:81512118(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.148_150delAAG |
| AA Mutation |
p.Lys50del(p.K50del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |