| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76592862:76592863(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.847_848delGA |
| AA Mutation |
p.Asp283CysfsTer3(p.D283Cfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76701201:76701202(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4493_4494insCCGAG |
| AA Mutation |
p.Gln1499ArgfsTer15(p.Q1499Rfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IQGAP2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76600822:76600822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1082C>T |
| AA Mutation |
p.Ala361Val(p.A361V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76570635:76570635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.359T>C |
| AA Mutation |
p.Met120Thr(p.M120T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76461625:76461625(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.102G>T |
| AA Mutation |
p.Gln34His(p.Q34H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76631882:76631882(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1636A>C |
| AA Mutation |
p.Asn546His(p.N546H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76658491:76658491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs534842328
|
| CDS Mutation |
c.2353C>T |
| AA Mutation |
p.Arg785Cys(p.R785C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76698144:76698144(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4364G>T |
| AA Mutation |
p.Arg1455Ile(p.R1455I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76701210:76701210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199687430
|
| CDS Mutation |
c.4502A>G |
| AA Mutation |
p.Asn1501Ser(p.N1501S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76637173:76637173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140853165
|
| CDS Mutation |
c.1920C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76589676:76589676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.588C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274364 |
| Start |
76668789:76668789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377130667
|
| CDS Mutation |
c.2788C>T |
| AA Mutation |
p.Arg930Ter(p.R930*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76570579:76570579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.304-1G>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|