| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1026400:1026401(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2472dupC |
| AA Mutation |
p.Glu825ArgfsTer6(p.E825Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1026940:1026940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765071909
|
| CDS Mutation |
c.2394+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MUC6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1024980:1024980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3089C>T |
| AA Mutation |
p.Ser1030Leu(p.S1030L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1018545:1018545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4256C>T |
| AA Mutation |
p.Thr1419Ile(p.T1419I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1019424:1019424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746417317
|
| CDS Mutation |
c.3881C>T |
| AA Mutation |
p.Ser1294Leu(p.S1294L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1025846:1025846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778446894
|
| CDS Mutation |
c.2758T>C |
| AA Mutation |
p.Ser920Pro(p.S920P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1020704:1020704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs577998306
|
| CDS Mutation |
c.3620C>T |
| AA Mutation |
p.Thr1207Met(p.T1207M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1018764:1018764(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369767214
|
| CDS Mutation |
c.4037C>T |
| AA Mutation |
p.Ser1346Leu(p.S1346L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1017648:1017648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5153C>T |
| AA Mutation |
p.Pro1718Leu(p.P1718L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1017735:1017735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5066A>C |
| AA Mutation |
p.Lys1689Thr(p.K1689T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1028889:1028889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780490681
|
| CDS Mutation |
c.1453C>T |
| AA Mutation |
p.Arg485Cys(p.R485C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000421673 |
| Start |
1027279:1027279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376692745
|
| CDS Mutation |
c.2220C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|