| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55322681:55322682(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3008dupA |
| AA Mutation |
p.Asn1003LysfsTer3(p.N1003Kfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55362359:55362360(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.575dupA |
| AA Mutation |
p.Asn192LysfsTer12(p.N192Kfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCDC88A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55334884:55334884(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1937A>G |
| AA Mutation |
p.Lys646Arg(p.K646R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55308839:55308839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4357G>A |
| AA Mutation |
p.Gly1453Ser(p.G1453S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55309186:55309186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4148T>G |
| AA Mutation |
p.Phe1383Cys(p.F1383C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55317637:55317637(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3529C>A |
| AA Mutation |
p.Leu1177Ile(p.L1177I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55295842:55295842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5306C>A |
| AA Mutation |
p.Ser1769Tyr(p.S1769Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55309189:55309189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4145A>C |
| AA Mutation |
p.Lys1382Thr(p.K1382T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55332691:55332691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2730T>G |
| AA Mutation |
p.Asp910Glu(p.D910E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55346309:55346309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.907C>T |
| AA Mutation |
p.Arg303Cys(p.R303C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55419074:55419074(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000436346 |
| Start |
55334486:55334486(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2335delA |
| AA Mutation |
p.Ile779SerfsTer4(p.I779Sfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000436346 |
| Start |
55296350:55296350(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4999C>T |
| AA Mutation |
p.Arg1667Ter(p.R1667*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000436346 |
| Start |
55334702:55334702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2119C>T |
| AA Mutation |
p.Arg707Ter(p.R707*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|