| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322444 |
| Start |
75063040:75063040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.785G>A |
| AA Mutation |
p.Arg262Gln(p.R262Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000322444 |
| Start |
75049229:75049229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.349G>T |
| AA Mutation |
p.Gly117Ter(p.G117*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCTD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000322444 |
| Start |
75053046:75053046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202181641
|
| CDS Mutation |
c.481G>A |
| AA Mutation |
p.Ala161Thr(p.A161T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000322444 |
| Start |
75059603:75059604(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.634_635insG |
| AA Mutation |
p.Gln212ArgfsTer10(p.Q212Rfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|