| Mutation ID |
35 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316300 |
| Start |
160589653:160589653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773141063
|
| CDS Mutation |
c.3847C>T |
| AA Mutation |
p.Arg1283Ter(p.R1283*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160556042:160556043(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4955dupC |
| AA Mutation |
p.Glu1653ArgfsTer6(p.E1653Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LPA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160601054:160601054(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2990C>A |
| AA Mutation |
p.Ala997Asp(p.A997D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160606578:160606578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2684G>T |
| AA Mutation |
p.Trp895Leu(p.W895L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160547908:160547908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374776600
|
| CDS Mutation |
c.5185C>T |
| AA Mutation |
p.Arg1729Trp(p.R1729W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160605154:160605154(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2837A>G |
| AA Mutation |
p.Gln946Arg(p.Q946R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160557503:160557503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4700C>T |
| AA Mutation |
p.Pro1567Leu(p.P1567L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160548652:160548652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4981A>G |
| AA Mutation |
p.Thr1661Ala(p.T1661A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160585183:160585183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4152G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160531861:160531861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs531254436
|
| CDS Mutation |
c.5991C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160541115:160541115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5586C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160585074:160585074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4261C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160589663:160589663(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3837A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160599523:160599523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3264G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160599499:160599499(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767906902
|
| CDS Mutation |
c.3287+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000316300 |
| Start |
160650337:160650337(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs533200556
|
| CDS Mutation |
c.209+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|