| Mutation ID |
25 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102413043:102413044(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1572_1573insG |
| AA Mutation |
p.Phe525ValfsTer12(p.F525Vfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102412990:102412991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1625dupA |
| AA Mutation |
p.Met543AspfsTer9(p.M543Dfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLCO6A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102373432:102373432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769220825
|
| CDS Mutation |
c.2080C>T |
| AA Mutation |
p.Arg694Cys(p.R694C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102373431:102373431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs539137924
|
| CDS Mutation |
c.2081G>A |
| AA Mutation |
p.Arg694His(p.R694H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102477851:102477851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.627A>C |
| AA Mutation |
p.Glu209Asp(p.E209D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102480294:102480294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.499G>T |
| AA Mutation |
p.Asp167Tyr(p.D167Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102399558:102399558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139495343
|
| CDS Mutation |
c.1811C>T |
| AA Mutation |
p.Thr604Met(p.T604M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102413011:102413011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1605T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102498527:102498527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.318C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102413040:102413040(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1576delT |
| AA Mutation |
p.Ser526LeufsTer29(p.S526Lfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379807 |
| Start |
102399691:102399691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1678G>T |
| AA Mutation |
p.Glu560Ter(p.E560*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000379807 |
| Start |
102412990:102412991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1625dupA |
| AA Mutation |
p.Met543AspfsTer9(p.M543Dfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|