| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33606771:33606772(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs752808243
|
| CDS Mutation |
c.4125dupC |
| AA Mutation |
p.Thr1376HisfsTer62(p.T1376Hfs*62) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33660862:33660862(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5117-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KIAA1549L
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33574873:33574873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558721492
|
| CDS Mutation |
c.3511C>T |
| AA Mutation |
p.Pro1171Ser(p.P1171S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33645866:33645866(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749282621
|
| CDS Mutation |
c.4699G>A |
| AA Mutation |
p.Ala1567Thr(p.A1567T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33543649:33543649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1195T>G |
| AA Mutation |
p.Phe399Val(p.F399V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33543830:33543830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1376C>A |
| AA Mutation |
p.Ser459Tyr(p.S459Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33559858:33559858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755842537
|
| CDS Mutation |
c.3074C>T |
| AA Mutation |
p.Ser1025Leu(p.S1025L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33543398:33543398(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.944T>C |
| AA Mutation |
p.Ile315Thr(p.I315T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33544287:33544287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761134143
|
| CDS Mutation |
c.1833G>T |
| AA Mutation |
p.Arg611Ser(p.R611S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33545073:33545073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2189G>A |
| AA Mutation |
p.Gly730Glu(p.G730E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33568140:33568140(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3252G>T |
| AA Mutation |
p.Glu1084Asp(p.E1084D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33574824:33574824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3462C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33559796:33559796(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777566871
|
| CDS Mutation |
c.3012C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33668016:33668016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749737275
|
| CDS Mutation |
c.5412G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33542874:33542874(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.420C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33543018:33543018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.564C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33544005:33544005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1551A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000321505 |
| Start |
33542793:33542793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.339A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321505 |
| Start |
33645745:33645745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4578T>G |
| AA Mutation |
p.Tyr1526Ter(p.Y1526*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|