| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20379197:20379197(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.539delT |
| AA Mutation |
p.Phe180SerfsTer37(p.F180Sfs*37) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20331826:20331827(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs760028800
|
| CDS Mutation |
c.27dupT |
| AA Mutation |
p.Thr10TyrfsTer34(p.T10Yfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ITGB8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20401901:20401901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1462G>T |
| AA Mutation |
p.Asp488Tyr(p.D488Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20379146:20379146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.484A>C |
| AA Mutation |
p.Asn162His(p.N162H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20391442:20391442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1000G>T |
| AA Mutation |
p.Asp334Tyr(p.D334Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222573 |
| Start |
20331826:20331827(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs760028800
|
| CDS Mutation |
c.27dupT |
| AA Mutation |
p.Thr10TyrfsTer34(p.T10Yfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000222573 |
| Start |
20367158:20367160(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.362_364delGAG |
| AA Mutation |
p.Gly121del(p.G121del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|