| Mutation ID |
53 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43376632:43376633(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5016dupT |
| AA Mutation |
p.Gly1673TrpfsTer18(p.G1673Wfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43492600:43492601(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.980_981insA |
| AA Mutation |
p.Thr328TyrfsTer15(p.T328Yfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS20
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43550982:43550982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380G>A |
| AA Mutation |
p.Arg127His(p.R127H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43383914:43383914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4516G>T |
| AA Mutation |
p.Gly1506Cys(p.G1506C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43383647:43383647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749958826
|
| CDS Mutation |
c.4708G>T |
| AA Mutation |
p.Val1570Phe(p.V1570F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43428320:43428320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3866A>C |
| AA Mutation |
p.Gln1289Pro(p.Q1289P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43429717:43429717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3389T>C |
| AA Mutation |
p.Val1130Ala(p.V1130A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43453938:43453938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143824237
|
| CDS Mutation |
c.1729G>A |
| AA Mutation |
p.Glu577Lys(p.E577K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43452648:43452648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780153600
|
| CDS Mutation |
c.1808G>A |
| AA Mutation |
p.Arg603Gln(p.R603Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43434332:43434332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2633A>G |
| AA Mutation |
p.Asp878Gly(p.D878G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43551132:43551132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.230G>A |
| AA Mutation |
p.Arg77Gln(p.R77Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43377471:43377471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112430320
|
| CDS Mutation |
c.4889G>A |
| AA Mutation |
p.Arg1630Gln(p.R1630Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43551157:43551157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.205G>A |
| AA Mutation |
p.Glu69Lys(p.E69K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43454017:43454017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1650G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43490414:43490414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1098A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43551877:43551877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.45G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43383654:43383654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4701T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43431383:43431383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3210T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389420 |
| Start |
43383651:43383651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4704A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389420 |
| Start |
43432657:43432657(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2875G>T |
| AA Mutation |
p.Glu959Ter(p.E959*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|