| Mutation ID |
115 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000344113 |
| Start |
64031155:64031156(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7019_7020insGTT |
| AA Mutation |
p.Lys2340_Asp2341insLeu(p.K2340_D2341insL) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
116 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000344113 |
| Start |
64031156:64031157(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7020_7021insATT |
| AA Mutation |
p.Lys2340_Asp2341insIle(p.K2340_D2341insI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYNE2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64002062:64002062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs183356628
|
| CDS Mutation |
c.3767G>A |
| AA Mutation |
p.Arg1256His(p.R1256H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64025294:64025294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6125A>G |
| AA Mutation |
p.Glu2042Gly(p.E2042G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64170367:64170367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375246083
|
| CDS Mutation |
c.17140C>T |
| AA Mutation |
p.Arg5714Cys(p.R5714C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64214381:64214381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.19244T>A |
| AA Mutation |
p.Ile6415Asn(p.I6415N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64003160:64003160(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4227G>C |
| AA Mutation |
p.Lys1409Asn(p.K1409N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
63991092:63991092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368993863
|
| CDS Mutation |
c.2623G>A |
| AA Mutation |
p.Gly875Ser(p.G875S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
63998919:63998919(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3359A>T |
| AA Mutation |
p.Asp1120Val(p.D1120V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64003071:64003071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4138T>C |
| AA Mutation |
p.Cys1380Arg(p.C1380R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64053222:64053222(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9309G>T |
| AA Mutation |
p.Lys3103Asn(p.K3103N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64143898:64143898(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.15433G>C |
| AA Mutation |
p.Gly5145Arg(p.G5145R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64056092:64056092(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9893G>A |
| AA Mutation |
p.Arg3298Gln(p.R3298Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64143878:64143878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145018323
|
| CDS Mutation |
c.15413C>T |
| AA Mutation |
p.Thr5138Met(p.T5138M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64152673:64152673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201962497
|
| CDS Mutation |
c.15749G>A |
| AA Mutation |
p.Arg5250Gln(p.R5250Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64170292:64170292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540618925
|
| CDS Mutation |
c.17065C>T |
| AA Mutation |
p.Arg5689Trp(p.R5689W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
63982693:63982693(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1900T>G |
| AA Mutation |
p.Phe634Val(p.F634V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64052881:64052881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748085293
|
| CDS Mutation |
c.8968G>A |
| AA Mutation |
p.Ala2990Thr(p.A2990T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64107530:64107530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12532G>A |
| AA Mutation |
p.Ala4178Thr(p.A4178T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64101958:64101958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778184408
|
| CDS Mutation |
c.12408G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64052917:64052917(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9009delA |
| AA Mutation |
p.Val3004CysfsTer7(p.V3004Cfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344113 |
| Start |
63980672:63980672(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588G>T |
| AA Mutation |
p.Glu530Ter(p.E530*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344113 |
| Start |
64052995:64052995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.9082G>T |
| AA Mutation |
p.Glu3028Ter(p.E3028*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
22 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344113 |
| Start |
64053454:64053454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9541G>T |
| AA Mutation |
p.Glu3181Ter(p.E3181*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000344113 |
| Start |
63995194:63995194(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2932G>T |
| AA Mutation |
p.Glu978Ter(p.E978*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000344113 |
| Start |
64101931:64101931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12382-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|