| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88041666:88041667(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1618_1619insC |
| AA Mutation |
p.Lys540ThrfsTer9(p.K540Tfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88186599:88186599(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.282-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MMP16
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88118856:88118856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.715G>T |
| AA Mutation |
p.Asp239Tyr(p.D239Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88197191:88197191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.248A>C |
| AA Mutation |
p.Asn83Thr(p.N83T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88197230:88197230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.209A>G |
| AA Mutation |
p.Gln70Arg(p.Q70R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88041573:88041573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1712G>A |
| AA Mutation |
p.Cys571Tyr(p.C571Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88116529:88116529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138174209
|
| CDS Mutation |
c.1061G>A |
| AA Mutation |
p.Arg354His(p.R354H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88116630:88116630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.960T>G |
| AA Mutation |
p.Asn320Lys(p.N320K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88197238:88197238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.201G>T |
| AA Mutation |
p.Glu67Asp(p.E67D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88116576:88116576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1014C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88327165:88327165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.42C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88116678:88116678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149503873
|
| CDS Mutation |
c.912G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88041482:88041482(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1803C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000286614 |
| Start |
88327073:88327073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.132+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|