| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53089945:53089945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3349-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000296585 |
| Start |
53042187:53042188(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.261_262insGAAACACATTTTTTTTAT |
| AA Mutation |
p.Leu87_Ser88insGluThrHisPhePheTyr(p.L87_S88insETHFFY) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGA2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53059978:53059978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1278A>C |
| AA Mutation |
p.Gln426His(p.Q426H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53073224:53073224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2536T>C |
| AA Mutation |
p.Ser846Pro(p.S846P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53055573:53055573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756548150
|
| CDS Mutation |
c.815G>A |
| AA Mutation |
p.Arg272Gln(p.R272Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53078804:53078804(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139990839
|
| CDS Mutation |
c.2858C>T |
| AA Mutation |
p.Ser953Leu(p.S953L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53089982:53089982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200277804
|
| CDS Mutation |
c.3385G>A |
| AA Mutation |
p.Glu1129Lys(p.E1129K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53089981:53089981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376779752
|
| CDS Mutation |
c.3384C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296585 |
| Start |
53045050:53045050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368086649
|
| CDS Mutation |
c.345C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000296585 |
| Start |
53070180:53070180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2155G>T |
| AA Mutation |
p.Glu719Ter(p.E719*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|