| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176896123:176896123(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.37delG |
| AA Mutation |
p.Glu13LysfsTer4(p.E13Kfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176881812:176881813(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2272dupG |
| AA Mutation |
p.Glu758GlyfsTer38(p.E758Gfs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HK3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176881771:176881771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569541765
|
| CDS Mutation |
c.2314G>A |
| AA Mutation |
p.Val772Ile(p.V772I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176881807:176881807(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748158768
|
| CDS Mutation |
c.2278G>A |
| AA Mutation |
p.Val760Ile(p.V760I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176888470:176888470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767209073
|
| CDS Mutation |
c.1166C>T |
| AA Mutation |
p.Ala389Val(p.A389V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176888503:176888503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1133C>A |
| AA Mutation |
p.Ala378Asp(p.A378D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176891089:176891089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.362G>A |
| AA Mutation |
p.Arg121Lys(p.R121K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176887627:176887627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756923182
|
| CDS Mutation |
c.1424G>A |
| AA Mutation |
p.Arg475His(p.R475H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292432 |
| Start |
176887471:176887471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766356752
|
| CDS Mutation |
c.1580G>A |
| AA Mutation |
p.Arg527Gln(p.R527Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|