| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100132007:100132007(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1721delC |
| AA Mutation |
p.Pro575LeufsTer13(p.P575Lfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000268070 |
| Start |
99976051:99976051(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3121delC |
| AA Mutation |
p.Arg1041AlafsTer5(p.R1041Afs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS17
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100051680:100051680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2347C>A |
| AA Mutation |
p.Pro783Thr(p.P783T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100199370:100199370(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777382457
|
| CDS Mutation |
c.1129G>A |
| AA Mutation |
p.Glu377Lys(p.E377K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100254173:100254173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1038T>A |
| AA Mutation |
p.Asp346Glu(p.D346E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100261627:100261627(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.883T>C |
| AA Mutation |
p.Ser295Pro(p.S295P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000268070 |
| Start |
100330902:100330902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.603C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|