| Mutation ID |
86 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70961970:70961971(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5956dupA |
| AA Mutation |
p.Ile1986AsnfsTer6(p.I1986Nfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
87 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70879725:70879726(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.10246_10247insGGAGT |
| AA Mutation |
p.Val3416GlyfsTer64(p.V3416Gfs*64) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HYDIN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71069445:71069445(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1796A>G |
| AA Mutation |
p.Tyr599Cys(p.Y599C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71162573:71162573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.674A>C |
| AA Mutation |
p.Asn225Thr(p.N225T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71175707:71175707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753825612
|
| CDS Mutation |
c.416C>T |
| AA Mutation |
p.Ser139Leu(p.S139L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70833927:70833927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13639C>T |
| AA Mutation |
p.Arg4547Cys(p.R4547C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70964842:70964842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5674C>T |
| AA Mutation |
p.Arg1892Cys(p.R1892C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70807698:70807698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.15248G>A |
| AA Mutation |
p.Gly5083Glu(p.G5083E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71031884:71031884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769442695
|
| CDS Mutation |
c.2563A>G |
| AA Mutation |
p.Asn855Asp(p.N855D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70959802:70959802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5987T>C |
| AA Mutation |
p.Ile1996Thr(p.I1996T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70920862:70920862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754226257
|
| CDS Mutation |
c.7514G>A |
| AA Mutation |
p.Arg2505His(p.R2505H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71184914:71184914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs529769407
|
| CDS Mutation |
c.212G>A |
| AA Mutation |
p.Arg71Gln(p.R71Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70891646:70891646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9656C>T |
| AA Mutation |
p.Ala3219Val(p.A3219V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70904018:70904018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8563C>A |
| AA Mutation |
p.Leu2855Met(p.L2855M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70952558:70952558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373417090
|
| CDS Mutation |
c.6394G>A |
| AA Mutation |
p.Glu2132Lys(p.E2132K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71178975:71178975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.334C>T |
| AA Mutation |
p.Pro112Ser(p.P112S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70952512:70952512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558300717
|
| CDS Mutation |
c.6440G>A |
| AA Mutation |
p.Arg2147His(p.R2147H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70920743:70920743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373825456
|
| CDS Mutation |
c.7633C>T |
| AA Mutation |
p.Arg2545Trp(p.R2545W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70834008:70834008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200437208
|
| CDS Mutation |
c.13558G>A |
| AA Mutation |
p.Gly4520Ser(p.G4520S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70850622:70850622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12477G>T |
| AA Mutation |
p.Gln4159His(p.Q4159H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71129743:71129743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs562266990
|
| CDS Mutation |
c.1124G>A |
| AA Mutation |
p.Arg375Gln(p.R375Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70874827:70874827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10650A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70921101:70921101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771201236
|
| CDS Mutation |
c.7275C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70818456:70818456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373475539
|
| CDS Mutation |
c.14544G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70920837:70920837(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7539A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70884047:70884047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748265495
|
| CDS Mutation |
c.9852C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70829729:70829729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112196683
|
| CDS Mutation |
c.14001C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70860808:70860808(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.11871G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70850592:70850592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12507C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70975216:70975216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4692C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70981431:70981431(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4470C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
30 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71060591:71060591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2442C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70866312:70866312(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770324489
|
| CDS Mutation |
c.11328G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393567 |
| Start |
70855196:70855196(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12375C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000393567 |
| Start |
71186766:71186766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.130C>T |
| AA Mutation |
p.Arg44Ter(p.R44*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
34 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393567 |
| Start |
71031905:71031906(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2541dupA |
| AA Mutation |
p.Ser848IlefsTer6(p.S848Ifs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|