| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104788457:104788457(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6038delT |
| AA Mutation |
p.Leu2013Ter(p.L2013*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
49 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104827033:104827033(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2252delG |
| AA Mutation |
p.Gly751AlafsTer77(p.G751Afs*77) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104822572:104822572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2752G>A |
| AA Mutation |
p.Gly918Ser(p.G918S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104784389:104784389(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6712A>C |
| AA Mutation |
p.Asn2238His(p.N2238H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104796152:104796152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5283G>T |
| AA Mutation |
p.Lys1761Asn(p.K1761N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104819640:104819640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3187G>A |
| AA Mutation |
p.Val1063Met(p.V1063M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104821388:104821388(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2947G>A |
| AA Mutation |
p.Val983Met(p.V983M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104822598:104822598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs574919140
|
| CDS Mutation |
c.2726G>A |
| AA Mutation |
p.Arg909Gln(p.R909Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104884512:104884512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.217A>G |
| AA Mutation |
p.Ile73Val(p.I73V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104903624:104903624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.56G>T |
| AA Mutation |
p.Arg19Ile(p.R19I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104832722:104832722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1361A>G |
| AA Mutation |
p.Asp454Gly(p.D454G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104784407:104784407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6694G>T |
| AA Mutation |
p.Asp2232Tyr(p.D2232Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104785536:104785536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6505A>C |
| AA Mutation |
p.Lys2169Gln(p.K2169Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104837525:104837525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1097C>A |
| AA Mutation |
p.Pro366His(p.P366H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374736 |
| Start |
104840354:104840354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.979G>C |
| AA Mutation |
p.Asp327His(p.D327H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|