| Mutation ID |
54 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5319112:5319113(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.*3_*4insCGGAGAGCGGTCCCAACTCACAAGTTAGACTTGCTCTAAGTCCAACTTGTGAGTT |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
55 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5239795:5239796(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2394dupT |
| AA Mutation |
p.Gly799TrpfsTer25(p.G799Wfs*25) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS16
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5191720:5191720(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760889068
|
| CDS Mutation |
c.1243C>T |
| AA Mutation |
p.Arg415Cys(p.R415C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5242158:5242158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778918550
|
| CDS Mutation |
c.2629G>A |
| AA Mutation |
p.Val877Met(p.V877M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5239809:5239809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377454180
|
| CDS Mutation |
c.2407G>A |
| AA Mutation |
p.Val803Met(p.V803M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5318198:5318198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3476C>T |
| AA Mutation |
p.Pro1159Leu(p.P1159L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5146381:5146381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.427G>A |
| AA Mutation |
p.Asp143Asn(p.D143N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5232395:5232395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1729T>C |
| AA Mutation |
p.Tyr577His(p.Y577H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5182257:5182257(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202209661
|
| CDS Mutation |
c.715C>T |
| AA Mutation |
p.Arg239Cys(p.R239C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5222789:5222789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752096825
|
| CDS Mutation |
c.1606G>A |
| AA Mutation |
p.Asp536Asn(p.D536N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5232436:5232436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201912376
|
| CDS Mutation |
c.1770G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5303733:5303733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3153G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5209207:5209207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs188190346
|
| CDS Mutation |
c.1566C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5235023:5235023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762948044
|
| CDS Mutation |
c.1860T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5303676:5303676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3096C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000274181 |
| Start |
5239680:5239680(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2279-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|