| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000357115 |
| Start |
150435651:150435651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773780828
|
| CDS Mutation |
c.7012C>T |
| AA Mutation |
p.Arg2338Ter(p.R2338*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150906406:150906406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1494-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> LRBA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150761802:150761802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760470465
|
| CDS Mutation |
c.5626G>A |
| AA Mutation |
p.Glu1876Lys(p.E1876K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150868275:150868275(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2480G>A |
| AA Mutation |
p.Arg827Gln(p.R827Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150871434:150871434(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2278C>T |
| AA Mutation |
p.Leu760Phe(p.L760F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150908830:150908830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558200018
|
| CDS Mutation |
c.1189G>A |
| AA Mutation |
p.Asp397Asn(p.D397N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150916642:150916642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.742G>T |
| AA Mutation |
p.Asp248Tyr(p.D248Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150588109:150588109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6302C>G |
| AA Mutation |
p.Ser2101Cys(p.S2101C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150852535:150852535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3175G>A |
| AA Mutation |
p.Ala1059Thr(p.A1059T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150435608:150435608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371873204
|
| CDS Mutation |
c.7055G>A |
| AA Mutation |
p.Arg2352His(p.R2352H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150467677:150467677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6809C>T |
| AA Mutation |
p.Ser2270Phe(p.S2270F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150487794:150487794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781408088
|
| CDS Mutation |
c.6522G>T |
| AA Mutation |
p.Lys2174Asn(p.K2174N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150490966:150490966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757445725
|
| CDS Mutation |
c.6433C>T |
| AA Mutation |
p.Arg2145Cys(p.R2145C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150588078:150588078(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6333G>T |
| AA Mutation |
p.Glu2111Asp(p.E2111D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150852250:150852250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3460T>G |
| AA Mutation |
p.Leu1154Val(p.L1154V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150852942:150852942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2768T>C |
| AA Mutation |
p.Val923Ala(p.V923A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150906301:150906301(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1598A>G |
| AA Mutation |
p.Glu533Gly(p.E533G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000357115 |
| Start |
150415489:150415489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7176A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|