| Mutation ID |
38 |
| Mutation Consequence |
inframe_deletion;splice_region_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67227139:67227141(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3912_3914delTGT |
| AA Mutation |
p.Val1305del(p.V1305del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000262215 |
| Start |
67232865:67232867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3368_3370delTTG |
| AA Mutation |
p.Val1123del(p.V1123del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ARFGEF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67211584:67211584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4718A>G |
| AA Mutation |
p.His1573Arg(p.H1573R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67217857:67217857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4538A>G |
| AA Mutation |
p.Glu1513Gly(p.E1513G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67211521:67211521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4781C>A |
| AA Mutation |
p.Ala1594Asp(p.A1594D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67238379:67238379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3253G>T |
| AA Mutation |
p.Asp1085Tyr(p.D1085Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67253559:67253559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2590G>T |
| AA Mutation |
p.Asp864Tyr(p.D864Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67199026:67199026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5458C>T |
| AA Mutation |
p.Arg1820Cys(p.R1820C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67204745:67204745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773060622
|
| CDS Mutation |
c.4894G>A |
| AA Mutation |
p.Asp1632Asn(p.D1632N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67225012:67225012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775735472
|
| CDS Mutation |
c.4099G>A |
| AA Mutation |
p.Asp1367Asn(p.D1367N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67238739:67238739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3134A>G |
| AA Mutation |
p.His1045Arg(p.H1045R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67267138:67267138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1765A>C |
| AA Mutation |
p.Ile589Leu(p.I589L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67266943:67266943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1854G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67266170:67266170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1959C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67271781:67271781(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1493delC |
| AA Mutation |
p.Pro498GlnfsTer22(p.P498Qfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262215 |
| Start |
67266031:67266031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2098G>T |
| AA Mutation |
p.Glu700Ter(p.E700*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262215 |
| Start |
67267165:67267165(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1738G>T |
| AA Mutation |
p.Glu580Ter(p.E580*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67240274:67240275(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2866_2867insC |
| AA Mutation |
p.Phe956SerfsTer13(p.F956Sfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67302455:67302456(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.135_136insCCTT |
| AA Mutation |
p.Ala46ProfsTer5(p.A46Pfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262215 |
| Start |
67211617:67211617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4687-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|