| Mutation ID |
55 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356956 |
| Start |
160047827:160047827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2265C>A |
| AA Mutation |
p.Tyr755Ter(p.Y755*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
56 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000356956 |
| Start |
160073436:160073438(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs777541035
|
| CDS Mutation |
c.4916_4918delCCT |
| AA Mutation |
p.Ser1639del(p.S1639del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IGF2R
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
159991293:159991293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758037852
|
| CDS Mutation |
c.259G>A |
| AA Mutation |
p.Asp87Asn(p.D87N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160068272:160068272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4139A>T |
| AA Mutation |
p.Asp1380Val(p.D1380V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160060682:160060682(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3227C>A |
| AA Mutation |
p.Ala1076Asp(p.A1076D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160047897:160047897(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2335G>A |
| AA Mutation |
p.Asp779Asn(p.D779N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160064853:160064853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756307482
|
| CDS Mutation |
c.4067G>A |
| AA Mutation |
p.Arg1356Gln(p.R1356Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160047164:160047164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2057A>G |
| AA Mutation |
p.Glu686Gly(p.E686G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160058960:160058960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2953T>G |
| AA Mutation |
p.Ser985Ala(p.S985A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160064898:160064898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4112T>G |
| AA Mutation |
p.Phe1371Cys(p.F1371C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160073358:160073358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201938520
|
| CDS Mutation |
c.4836C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160032664:160032664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201732709
|
| CDS Mutation |
c.996C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356956 |
| Start |
160096539:160096539(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6756G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|