| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72007295:72007296(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5356dupC |
| AA Mutation |
p.Leu1786ProfsTer18(p.L1786Pfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000393695 |
| Start |
72015670:72015672(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1831_1833delAAG |
| AA Mutation |
p.Lys611del(p.K611del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUMA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72014006:72014006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3497C>T |
| AA Mutation |
p.Thr1166Ile(p.T1166I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72014007:72014007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3496A>C |
| AA Mutation |
p.Thr1166Pro(p.T1166P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72013569:72013569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3934C>T |
| AA Mutation |
p.Arg1312Trp(p.R1312W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72015855:72015855(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779257804
|
| CDS Mutation |
c.1648C>T |
| AA Mutation |
p.Arg550Cys(p.R550C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72004749:72004749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754982600
|
| CDS Mutation |
c.5897G>A |
| AA Mutation |
p.Arg1966His(p.R1966H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72017760:72017760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1046G>T |
| AA Mutation |
p.Ser349Ile(p.S349I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72016509:72016509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1141G>A |
| AA Mutation |
p.Glu381Lys(p.E381K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000393695 |
| Start |
72012399:72012400(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4650+1_4650+2insA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|