| Mutation ID |
53 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77314666:77314666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4412+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
54 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77302914:77302914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3813-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VPS13A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77214332:77214332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375565825
|
| CDS Mutation |
c.700G>A |
| AA Mutation |
p.Asp234Asn(p.D234N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77221294:77221294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1099G>A |
| AA Mutation |
p.Glu367Lys(p.E367K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77337500:77337500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367713644
|
| CDS Mutation |
c.6341G>A |
| AA Mutation |
p.Arg2114Gln(p.R2114Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77351358:77351358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7331C>T |
| AA Mutation |
p.Ala2444Val(p.A2444V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77225938:77225938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1174A>G |
| AA Mutation |
p.Thr392Ala(p.T392A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77209461:77209461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.424A>C |
| AA Mutation |
p.Lys142Gln(p.K142Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77273321:77273321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2469G>T |
| AA Mutation |
p.Gln823His(p.Q823H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77205978:77205978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.284G>T |
| AA Mutation |
p.Arg95Ile(p.R95I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77209483:77209483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.446A>C |
| AA Mutation |
p.Lys149Thr(p.K149T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77219999:77219999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.800G>A |
| AA Mutation |
p.Arg267Gln(p.R267Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77282178:77282178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3022A>C |
| AA Mutation |
p.Asn1008His(p.N1008H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77403264:77403264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763080302
|
| CDS Mutation |
c.9218A>G |
| AA Mutation |
p.Tyr3073Cys(p.Y3073C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77212996:77212996(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.583T>G |
| AA Mutation |
p.Leu195Val(p.L195V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77275579:77275579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774586650
|
| CDS Mutation |
c.2594G>A |
| AA Mutation |
p.Arg865Gln(p.R865Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77370912:77370912(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8930G>A |
| AA Mutation |
p.Gly2977Glu(p.G2977E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360280 |
| Start |
77293487:77293487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762176805
|
| CDS Mutation |
c.3486G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000360280 |
| Start |
77316210:77316212(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4673_4675delTTA |
| AA Mutation |
p.Ile1558del(p.I1558del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
|