| Mutation ID |
104 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186636023:186636023(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4183+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
105 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000441802 |
| Start |
186620662:186620670(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5916_5924delCAAAGAAAG |
| AA Mutation |
p.Lys1973_Ser1975del(p.K1973_S1975del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FAT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186595707:186595707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763565837
|
| CDS Mutation |
c.13120G>A |
| AA Mutation |
p.Glu4374Lys(p.E4374K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186609194:186609194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768392442
|
| CDS Mutation |
c.10195G>A |
| AA Mutation |
p.Asp3399Asn(p.D3399N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186619517:186619517(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7069A>C |
| AA Mutation |
p.Thr2357Pro(p.T2357P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186620324:186620324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759187154
|
| CDS Mutation |
c.6262G>A |
| AA Mutation |
p.Ala2088Thr(p.A2088T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186706995:186706995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs377150532
|
| CDS Mutation |
c.2833G>A |
| AA Mutation |
p.Val945Ile(p.V945I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186596696:186596696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12844C>G |
| AA Mutation |
p.Pro4282Ala(p.P4282A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186597050:186597050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12490G>C |
| AA Mutation |
p.Asp4164His(p.D4164H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186708498:186708498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1330A>G |
| AA Mutation |
p.Lys444Glu(p.K444E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186596648:186596648(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12892G>A |
| AA Mutation |
p.Ala4298Thr(p.A4298T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186617901:186617901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8685G>T |
| AA Mutation |
p.Lys2895Asn(p.K2895N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186618626:186618626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779677759
|
| CDS Mutation |
c.7960G>A |
| AA Mutation |
p.Val2654Ile(p.V2654I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186707753:186707753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2075A>C |
| AA Mutation |
p.Lys692Thr(p.K692T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186708984:186708984(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781077372
|
| CDS Mutation |
c.844G>A |
| AA Mutation |
p.Asp282Asn(p.D282N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186636867:186636867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3690A>T |
| AA Mutation |
p.Arg1230Ser(p.R1230S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186708191:186708191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1637C>G |
| AA Mutation |
p.Pro546Arg(p.P546R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186619347:186619347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7239A>T |
| AA Mutation |
p.Lys2413Asn(p.K2413N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186600231:186600231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11770C>T |
| AA Mutation |
p.Arg3924Cys(p.R3924C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186603756:186603756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10770C>A |
| AA Mutation |
p.Phe3590Leu(p.F3590L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186617982:186617982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8604G>T |
| AA Mutation |
p.Trp2868Cys(p.W2868C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186636790:186636790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3767A>G |
| AA Mutation |
p.Glu1256Gly(p.E1256G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186620997:186620997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375007936
|
| CDS Mutation |
c.5589G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186617859:186617859(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757154932
|
| CDS Mutation |
c.8727C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186614237:186614237(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773577175
|
| CDS Mutation |
c.9183G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186709324:186709324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs775357680
|
| CDS Mutation |
c.504C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186595774:186595774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13053G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186619717:186619717(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6869delT |
| AA Mutation |
p.Val2290GlyfsTer8(p.V2290Gfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000441802 |
| Start |
186639739:186639739(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3625delG |
| AA Mutation |
p.Asp1209MetfsTer5(p.D1209Mfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000441802 |
| Start |
186621575:186621575(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5011G>T |
| AA Mutation |
p.Glu1671Ter(p.E1671*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|