| Mutation ID |
60 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6019004:6019005(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4413dupC |
| AA Mutation |
p.Asp1472ArgfsTer40(p.D1472Rfs*40) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
61 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6072330:6072330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1109+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VWF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6013610:6013610(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5491T>C |
| AA Mutation |
p.Tyr1831His(p.Y1831H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6019283:6019283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61750074
|
| CDS Mutation |
c.4135C>T |
| AA Mutation |
p.Arg1379Cys(p.R1379C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
5949082:5949082(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8375C>T |
| AA Mutation |
p.Ser2792Phe(p.S2792F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6013510:6013510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5591G>A |
| AA Mutation |
p.Gly1864Asp(p.G1864D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
5976247:5976247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370600984
|
| CDS Mutation |
c.7301G>A |
| AA Mutation |
p.Arg2434Gln(p.R2434Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6075456:6075456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.753G>T |
| AA Mutation |
p.Glu251Asp(p.E251D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6018713:6018713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61909722
|
| CDS Mutation |
c.4705C>T |
| AA Mutation |
p.Arg1569Cys(p.R1569C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6110565:6110565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.341C>T |
| AA Mutation |
p.Ala114Val(p.A114V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261405 |
| Start |
5951877:5951877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8122A>C |
| AA Mutation |
p.Ile2708Leu(p.I2708L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6019134:6019134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772959925
|
| CDS Mutation |
c.4284C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6018759:6018759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375675510
|
| CDS Mutation |
c.4659C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
5996173:5996173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5892G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6019368:6019368(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143459496
|
| CDS Mutation |
c.4050G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6025969:6025969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3045G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6057856:6057856(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368329035
|
| CDS Mutation |
c.1722G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261405 |
| Start |
6064289:6064289(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1389A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|