| Mutation ID |
85 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99717169:99717169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6530-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
86 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99766972:99766972(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7322+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VPS13B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99861887:99861887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11231C>G |
| AA Mutation |
p.Pro3744Arg(p.P3744R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99817642:99817642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749023338
|
| CDS Mutation |
c.8275C>T |
| AA Mutation |
p.Arg2759Trp(p.R2759W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99507835:99507835(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4223T>G |
| AA Mutation |
p.Leu1408Arg(p.L1408R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99818454:99818454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8440C>T |
| AA Mutation |
p.Pro2814Ser(p.P2814S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99156738:99156738(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2203C>T |
| AA Mutation |
p.Leu735Phe(p.L735F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99442605:99442605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3415T>G |
| AA Mutation |
p.Phe1139Val(p.F1139V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99817701:99817701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8334C>G |
| AA Mutation |
p.Asn2778Lys(p.N2778K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99013797:99013797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9G>T |
| AA Mutation |
p.Glu3Asp(p.E3D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99111127:99111127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.610A>C |
| AA Mutation |
p.Asn204His(p.N204H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99274313:99274313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2631A>C |
| AA Mutation |
p.Lys877Asn(p.K877N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99699909:99699909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6506T>G |
| AA Mutation |
p.Val2169Gly(p.V2169G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99720866:99720866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763678767
|
| CDS Mutation |
c.6944C>A |
| AA Mutation |
p.Ser2315Tyr(p.S2315Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99192884:99192884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2342G>T |
| AA Mutation |
p.Arg781Ile(p.R781I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99038443:99038443(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.173delT |
| AA Mutation |
p.Leu58Ter(p.L58*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99818501:99818501(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8489delT |
| AA Mutation |
p.Leu2830Ter(p.L2830*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358544 |
| Start |
99507858:99507858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145741622
|
| CDS Mutation |
c.4246C>T |
| AA Mutation |
p.Arg1416Ter(p.R1416*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358544 |
| Start |
99148005:99148005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2008G>T |
| AA Mutation |
p.Glu670Ter(p.E670*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99699612:99699613(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6215dupA |
| AA Mutation |
p.Asn2072LysfsTer8(p.N2072Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000358544 |
| Start |
99481597:99481597(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3667-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|