| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56566661:56566662(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.619dupA |
| AA Mutation |
p.Thr207AsnfsTer2(p.T207Nfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56567024:56567025(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.792dupA |
| AA Mutation |
p.Ala265SerfsTer9(p.A265Sfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CCDC66
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56566985:56566985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.746C>A |
| AA Mutation |
p.Thr249Asn(p.T249N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56617422:56617422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2154G>T |
| AA Mutation |
p.Lys718Asn(p.K718N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56563730:56563730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.149C>A |
| AA Mutation |
p.Thr50Asn(p.T50N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394672 |
| Start |
56563990:56563990(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.414delA |
| AA Mutation |
p.Lys138AsnfsTer8(p.K138Nfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394672 |
| Start |
56613691:56613691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1507G>T |
| AA Mutation |
p.Glu503Ter(p.E503*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394672 |
| Start |
56619860:56619860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374852204
|
| CDS Mutation |
c.2719C>T |
| AA Mutation |
p.Arg907Ter(p.R907*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|