| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54989101:54989102(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1452_1453insAATAATC |
| AA Mutation |
p.Leu485AsnfsTer20(p.L485Nfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54989103:54989104(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1450_1451insTTCTTC |
| AA Mutation |
p.Thr484delinsIleLeuPro(p.T484delinsILP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> WDHD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54966590:54966590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2195C>T |
| AA Mutation |
p.Ser732Leu(p.S732L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54991259:54991259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1295C>G |
| AA Mutation |
p.Pro432Arg(p.P432R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54955671:54955671(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2940G>T |
| AA Mutation |
p.Gln980His(p.Q980H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360586 |
| Start |
55008674:55008674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.387G>T |
| AA Mutation |
p.Gln129His(p.Q129H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360586 |
| Start |
54944364:54944364(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201769435
|
| CDS Mutation |
c.3157C>T |
| AA Mutation |
p.Arg1053Ter(p.R1053*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360586 |
| Start |
54957609:54957609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778414691
|
| CDS Mutation |
c.2728C>T |
| AA Mutation |
p.Arg910Ter(p.R910*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360586 |
| Start |
54981661:54981661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761619725
|
| CDS Mutation |
c.1942C>T |
| AA Mutation |
p.Arg648Ter(p.R648*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360586 |
| Start |
55008664:55008664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.397C>T |
| AA Mutation |
p.Arg133Ter(p.R133*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360586 |
| Start |
54941533:54941534(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3346dupT |
| AA Mutation |
p.Ser1116PhefsTer12(p.S1116Ffs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000360586 |
| Start |
54941490:54941490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3390A>T |
| AA Mutation |
p.Ter1130TyrextTer9(p.*1130Yext*9) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|