| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220615981:220615982(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.539dupA |
| AA Mutation |
p.His180GlnfsTer3(p.H180Qfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220579491:220579492(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.189_190insGATTTCATTGTTAATT |
| AA Mutation |
p.Lys64AspfsTer6(p.K64Dfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MARK1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220653348:220653348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1984C>T |
| AA Mutation |
p.Arg662Cys(p.R662C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220653123:220653123(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1759G>T |
| AA Mutation |
p.Ala587Ser(p.A587S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220653334:220653334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1970C>T |
| AA Mutation |
p.Thr657Ile(p.T657I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220653171:220653171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755975927
|
| CDS Mutation |
c.1807C>T |
| AA Mutation |
p.Arg603Cys(p.R603C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220528829:220528829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761704613
|
| CDS Mutation |
c.7G>T |
| AA Mutation |
p.Ala3Ser(p.A3S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220653343:220653343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1979T>C |
| AA Mutation |
p.Phe660Ser(p.F660S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220635474:220635474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1221G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366917 |
| Start |
220635966:220635966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1410C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366917 |
| Start |
220632249:220632249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1058T>A |
| AA Mutation |
p.Leu353Ter(p.L353*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366917 |
| Start |
220652056:220652056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1642C>T |
| AA Mutation |
p.Arg548Ter(p.R548*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366917 |
| Start |
220598337:220598337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755903644
|
| CDS Mutation |
c.316C>T |
| AA Mutation |
p.Arg106Ter(p.R106*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|