Gene >> RAD50
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132637192:132637192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587780156
|
| CDS Mutation |
c.3467G>A |
| AA Mutation |
p.Arg1156His(p.R1156H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132608690:132608690(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs758740142
|
| CDS Mutation |
c.2801delA |
| AA Mutation |
p.Asn934IlefsTer6(p.N934Ifs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |