| Mutation ID |
100 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122305875:122305875(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.9673-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
101 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000264501 |
| Start |
122238161:122238162(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3644_3645insATGGCAATCTAA |
| AA Mutation |
p.Thr1215_Gln1216insTrpGlnSerAsn(p.T1215_Q1216insWQSN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIAA1109
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122197258:122197258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1272G>A |
| AA Mutation |
p.Met424Ile(p.M424I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122309461:122309461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.10249G>T |
| AA Mutation |
p.Ala3417Ser(p.A3417S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122186099:122186099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778767163
|
| CDS Mutation |
c.422G>A |
| AA Mutation |
p.Arg141His(p.R141H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122246745:122246745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5247T>G |
| AA Mutation |
p.Ser1749Arg(p.S1749R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122199373:122199373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1303A>C |
| AA Mutation |
p.Ile435Leu(p.I435L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122209307:122209307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1901A>C |
| AA Mutation |
p.Lys634Thr(p.K634T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122362039:122362039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.14810C>A |
| AA Mutation |
p.Ser4937Tyr(p.S4937Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122197247:122197247(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1261A>C |
| AA Mutation |
p.Asn421His(p.N421H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122209328:122209328(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1922C>A |
| AA Mutation |
p.Thr641Asn(p.T641N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122211029:122211029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2181G>T |
| AA Mutation |
p.Met727Ile(p.M727I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122247208:122247208(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5363A>C |
| AA Mutation |
p.Asn1788Thr(p.N1788T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122254818:122254818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6088T>G |
| AA Mutation |
p.Leu2030Val(p.L2030V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122271652:122271652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.8128C>T |
| AA Mutation |
p.Leu2710Phe(p.L2710F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122328357:122328357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11249C>T |
| AA Mutation |
p.Ser3750Leu(p.S3750L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122240259:122240259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4577C>G |
| AA Mutation |
p.Ser1526Cys(p.S1526C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122247236:122247236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5391G>T |
| AA Mutation |
p.Lys1797Asn(p.K1797N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122336347:122336347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.12004T>G |
| AA Mutation |
p.Tyr4002Asp(p.Y4002D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122356713:122356713(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.14593C>A |
| AA Mutation |
p.Leu4865Ile(p.L4865I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122226781:122226781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778766070
|
| CDS Mutation |
c.2868G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122249528:122249528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5556C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264501 |
| Start |
122271246:122271246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7722T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|