| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617875 |
| Start |
144517167:144517167(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.237delG |
| AA Mutation |
p.His81IlefsTer2(p.H81Ifs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000617875 |
| Start |
144513610:144513610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746691436
|
| CDS Mutation |
c.2161C>T |
| AA Mutation |
p.Arg721Ter(p.R721*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000617875 |
| Start |
144512965:144512966(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2636dupC |
| AA Mutation |
p.Gln880SerfsTer4(p.Q880Sfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RECQL4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000617875 |
| Start |
144511436:144511436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs41555416
|
| CDS Mutation |
c.3622C>T |
| AA Mutation |
p.Arg1208Cys(p.R1208C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|