| Mutation ID |
25 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370449 |
| Start |
99810200:99810200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775410341
|
| CDS Mutation |
c.1882C>T |
| AA Mutation |
p.Arg628Ter(p.R628*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99846960:99846960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4147-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCC2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99843853:99843853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3796A>C |
| AA Mutation |
p.Ile1266Leu(p.I1266L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99808183:99808183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751940502
|
| CDS Mutation |
c.1769G>A |
| AA Mutation |
p.Arg590His(p.R590H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99819197:99819197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2548G>T |
| AA Mutation |
p.Ala850Ser(p.A850S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99847012:99847012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4198A>C |
| AA Mutation |
p.Asn1400His(p.N1400H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99847013:99847013(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4199A>T |
| AA Mutation |
p.Asn1400Ile(p.N1400I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99831780:99831780(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3053C>A |
| AA Mutation |
p.Ser1018Tyr(p.S1018Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99784770:99784770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.196C>A |
| AA Mutation |
p.Leu66Ile(p.L66I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99797207:99797207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.743G>A |
| AA Mutation |
p.Arg248Lys(p.R248K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99830390:99830390(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2704A>C |
| AA Mutation |
p.Thr902Pro(p.T902P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99784719:99784719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.145C>T |
| AA Mutation |
p.Leu49Phe(p.L49F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99845757:99845757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773345306
|
| CDS Mutation |
c.4121G>A |
| AA Mutation |
p.Arg1374Gln(p.R1374Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99831754:99831754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3027C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000370449 |
| Start |
99818871:99818871(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2353delG |
| AA Mutation |
p.Asp785MetfsTer11(p.D785Mfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370449 |
| Start |
99836217:99836217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3541C>T |
| AA Mutation |
p.Arg1181Ter(p.R1181*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000370449 |
| Start |
99797145:99797145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.681G>A |
| AA Mutation |
p.Trp227Ter(p.W227*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|