| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33060909:33060909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs188551232
|
| CDS Mutation |
c.1830G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33054250:33054250(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1307delA |
| AA Mutation |
p.Lys436SerfsTer7(p.K436Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KL
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33060937:33060937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs34292549
|
| CDS Mutation |
c.1858C>T |
| AA Mutation |
p.Arg620Cys(p.R620C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33061314:33061314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2235C>A |
| AA Mutation |
p.Asp745Glu(p.D745E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33061636:33061636(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147992424
|
| CDS Mutation |
c.2557C>T |
| AA Mutation |
p.Arg853Cys(p.R853C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33060826:33060826(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1747G>A |
| AA Mutation |
p.Ala583Thr(p.A583T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33061421:33061421(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2342G>T |
| AA Mutation |
p.Arg781Ile(p.R781I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33063987:33063987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2840T>G |
| AA Mutation |
p.Ile947Ser(p.I947S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33060900:33060900(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1821C>G |
| AA Mutation |
p.Asn607Lys(p.N607K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33055108:33055108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751485574
|
| CDS Mutation |
c.1392C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33061008:33061008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763527322
|
| CDS Mutation |
c.1929G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000380099 |
| Start |
33061457:33061457(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2384delA |
| AA Mutation |
p.Lys795SerfsTer2(p.K795Sfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|