| Mutation ID |
59 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219462042:219462043(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2607dupC |
| AA Mutation |
p.Thr870HisfsTer52(p.T870Hfs*52) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
60 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000312358 |
| Start |
219489102:219489104(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs746661931
|
| CDS Mutation |
c.8200_8202delAAC |
| AA Mutation |
p.Asn2734del(p.N2734del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPEG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219490476:219490476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8989G>A |
| AA Mutation |
p.Val2997Met(p.V2997M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219481341:219481341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5407C>G |
| AA Mutation |
p.Arg1803Gly(p.R1803G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219464488:219464488(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2761G>A |
| AA Mutation |
p.Glu921Lys(p.E921K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219464558:219464558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2831C>T |
| AA Mutation |
p.Ala944Val(p.A944V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219472998:219472998(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376367804
|
| CDS Mutation |
c.4049G>A |
| AA Mutation |
p.Arg1350His(p.R1350H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219483270:219483270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5807C>T |
| AA Mutation |
p.Pro1936Leu(p.P1936L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219489092:219489092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200598748
|
| CDS Mutation |
c.8188G>A |
| AA Mutation |
p.Asp2730Asn(p.D2730N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219477709:219477709(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4750G>A |
| AA Mutation |
p.Glu1584Lys(p.E1584K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219485380:219485380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7644C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000312358 |
| Start |
219492235:219492235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746906014
|
| CDS Mutation |
c.9586C>T |
| AA Mutation |
p.Arg3196Ter(p.R3196*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312358 |
| Start |
219490799:219490800(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9228_9229insG |
| AA Mutation |
p.His3077AlafsTer20(p.H3077Afs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|