| Mutation ID |
44 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000334344 |
| Start |
45851326:45851328(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3205_3207delGGT |
| AA Mutation |
p.Gly1069del(p.G1069del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000334344 |
| Start |
45849628:45849629(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1765_1767dupAAT |
| AA Mutation |
p.Asn589dup(p.N589dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARID2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45836822:45836822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.854G>A |
| AA Mutation |
p.Arg285Gln(p.R285Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45817771:45817771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.520G>T |
| AA Mutation |
p.Asp174Tyr(p.D174Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45849678:45849678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1814C>A |
| AA Mutation |
p.Pro605Gln(p.P605Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45851146:45851146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3023C>A |
| AA Mutation |
p.Ser1008Tyr(p.S1008Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45852268:45852268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4145C>G |
| AA Mutation |
p.Ser1382Cys(p.S1382C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45731233:45731233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.203A>G |
| AA Mutation |
p.Gln68Arg(p.Q68R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45817838:45817838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.587A>C |
| AA Mutation |
p.Asp196Ala(p.D196A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45852364:45852364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146518146
|
| CDS Mutation |
c.4241G>T |
| AA Mutation |
p.Arg1414Ile(p.R1414I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45729851:45729851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.15G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45839347:45839347(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1351delT |
| AA Mutation |
p.Ser451LeufsTer12(p.S451Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334344 |
| Start |
45731241:45731241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.211G>T |
| AA Mutation |
p.Glu71Ter(p.E71*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334344 |
| Start |
45821457:45821457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.675G>A |
| AA Mutation |
p.Trp225Ter(p.W225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000334344 |
| Start |
45837503:45837503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1126G>T |
| AA Mutation |
p.Glu376Ter(p.E376*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45730053:45730054(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.109dupA |
| AA Mutation |
p.Ile37AsnfsTer29(p.I37Nfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000334344 |
| Start |
45849579:45849579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1716-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|