| Mutation ID |
53 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26766456:26766456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2879-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000324856 |
| Start |
26773690:26773691(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs570962335
|
| CDS Mutation |
c.3999_4001dupGCA |
| AA Mutation |
p.Gln1334dup(p.Q1334dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARID1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26773414:26773414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3784C>T |
| AA Mutation |
p.Arg1262Cys(p.R1262C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26774387:26774387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4160A>G |
| AA Mutation |
p.Glu1387Gly(p.E1387G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26780594:26780604(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6699_6709delGGCTGCCCGCG |
| AA Mutation |
p.Arg2236CysfsTer38(p.R2236Cfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26697069:26697069(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.671delC |
| AA Mutation |
p.Pro224ArgfsTer8(p.P224Rfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26780313:26780313(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6420delC |
| AA Mutation |
p.Phe2141SerfsTer59(p.F2141Sfs*59) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324856 |
| Start |
26779863:26779863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5965C>T |
| AA Mutation |
p.Arg1989Ter(p.R1989*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324856 |
| Start |
26761389:26761389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2167C>T |
| AA Mutation |
p.Gln723Ter(p.Q723*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324856 |
| Start |
26762296:26762297(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2402dupG |
| AA Mutation |
p.Gln802SerfsTer15(p.Q802Sfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|