| Mutation ID |
41 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47113875:47113875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4715+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000409792 |
| Start |
47057342:47057350(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6434_6442delGAATGACAT |
| AA Mutation |
p.Gly2145_Ser2148delinsAla(p.G2145_S2148delinsA) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SETD2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47121414:47121414(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757432733
|
| CDS Mutation |
c.3222G>T |
| AA Mutation |
p.Lys1074Asn(p.K1074N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47123981:47123981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.655A>C |
| AA Mutation |
p.Ile219Leu(p.I219L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47122960:47122960(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1676T>C |
| AA Mutation |
p.Leu559Pro(p.L559P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47084280:47084280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760392790
|
| CDS Mutation |
c.5500G>A |
| AA Mutation |
p.Val1834Ile(p.V1834I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47124247:47124247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs550723354
|
| CDS Mutation |
c.389C>A |
| AA Mutation |
p.Ser130Tyr(p.S130Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47121359:47121359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3277A>C |
| AA Mutation |
p.Ser1093Arg(p.S1093R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47088157:47088157(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5233A>G |
| AA Mutation |
p.Ile1745Val(p.I1745V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47057458:47057458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6326G>A |
| AA Mutation |
p.Arg2109Gln(p.R2109Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47116641:47116641(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4568G>A |
| AA Mutation |
p.Arg1523His(p.R1523H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47120474:47120474(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779295786
|
| CDS Mutation |
c.4162G>T |
| AA Mutation |
p.Asp1388Tyr(p.D1388Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47088232:47088232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5158G>A |
| AA Mutation |
p.Glu1720Lys(p.E1720K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47120954:47120954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3682A>G |
| AA Mutation |
p.Ser1228Gly(p.S1228G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47124478:47124478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745499104
|
| CDS Mutation |
c.158G>A |
| AA Mutation |
p.Arg53Gln(p.R53Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000409792 |
| Start |
47123087:47123087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1549G>T |
| AA Mutation |
p.Glu517Ter(p.E517*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000409792 |
| Start |
47017130:47017131(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7657dupG |
| AA Mutation |
p.Ala2553GlyfsTer10(p.A2553Gfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|