| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6919675:6919676(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1553dupG |
| AA Mutation |
p.Ile519HisfsTer28(p.I519Hfs*28) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6904040:6904041(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.807_808insA |
| AA Mutation |
p.Asp270ArgfsTer2(p.D270Rfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADGRE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6906468:6906468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151096072
|
| CDS Mutation |
c.985G>A |
| AA Mutation |
p.Asp329Asn(p.D329N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6901965:6901965(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.605G>A |
| AA Mutation |
p.Gly202Glu(p.G202E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6928184:6928184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2262C>A |
| AA Mutation |
p.Phe754Leu(p.F754L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6890535:6890535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.86A>C |
| AA Mutation |
p.Asn29Thr(p.N29T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6897246:6897246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767441123
|
| CDS Mutation |
c.336C>A |
| AA Mutation |
p.Phe112Leu(p.F112L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6919703:6919703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1576G>A |
| AA Mutation |
p.Asp526Asn(p.D526N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6919665:6919665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1538C>A |
| AA Mutation |
p.Ser513Tyr(p.S513Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6916334:6916334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201521467
|
| CDS Mutation |
c.1386C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6901903:6901903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.543T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|