| Mutation ID |
40 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6106698:6106698(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5660delC |
| AA Mutation |
p.Pro1887ArgfsTer14(p.P1887Rfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
41 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6111774:6111774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5249+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHD5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6168163:6168163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761147748
|
| CDS Mutation |
c.194G>A |
| AA Mutation |
p.Arg65Gln(p.R65Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6112921:6112921(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4990G>A |
| AA Mutation |
p.Glu1664Lys(p.E1664K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6123990:6123990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4657G>A |
| AA Mutation |
p.Ala1553Thr(p.A1553T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6146250:6146250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1764G>T |
| AA Mutation |
p.Lys588Asn(p.K588N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6131643:6131643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760743983
|
| CDS Mutation |
c.3250G>A |
| AA Mutation |
p.Asp1084Asn(p.D1084N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6112210:6112210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145305767
|
| CDS Mutation |
c.5070C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6121121:6121121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758058613
|
| CDS Mutation |
c.4896G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6152448:6152448(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200170499
|
| CDS Mutation |
c.834C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262450 |
| Start |
6149346:6149347(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1060dupG |
| AA Mutation |
p.Glu354GlyfsTer35(p.E354Gfs*35) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|