| Mutation ID |
30 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360439 |
| Start |
75410237:75410237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1058T>A |
| AA Mutation |
p.Leu353Ter(p.L353*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360439 |
| Start |
75412891:75412891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.628C>T |
| AA Mutation |
p.Gln210Ter(p.Q210*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SIN3A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75401937:75401937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1441G>A |
| AA Mutation |
p.Glu481Lys(p.E481K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75412990:75412990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.529G>A |
| AA Mutation |
p.Asp177Asn(p.D177N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75411541:75411541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.959G>A |
| AA Mutation |
p.Gly320Asp(p.G320D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75396345:75396345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2006T>C |
| AA Mutation |
p.Leu669Pro(p.L669P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75372208:75372208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3593C>T |
| AA Mutation |
p.Ser1198Phe(p.S1198F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75392712:75392712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2381T>G |
| AA Mutation |
p.Ile794Ser(p.I794S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75400828:75400828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1639G>T |
| AA Mutation |
p.Asp547Tyr(p.D547Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75407142:75407142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1320G>T |
| AA Mutation |
p.Lys440Asn(p.K440N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75411622:75411622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.878C>T |
| AA Mutation |
p.Ala293Val(p.A293V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75422769:75422769(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.244C>A |
| AA Mutation |
p.His82Asn(p.H82N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75411540:75411540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.960C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75409878:75409878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1275C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75412832:75412832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75414228:75414228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.450C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75392600:75392600(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2493C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360439 |
| Start |
75375838:75375838(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3418C>T |
| AA Mutation |
p.Arg1140Ter(p.R1140*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360439 |
| Start |
75380702:75380702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3310C>T |
| AA Mutation |
p.Arg1104Ter(p.R1104*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360439 |
| Start |
75412955:75412956(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.563dupC |
| AA Mutation |
p.Gly189TrpfsTer5(p.G189Wfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|