| Mutation ID |
35 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69153316:69153317(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4124_4125insAGGTTAAT |
| AA Mutation |
p.Gln1376GlyfsTer2(p.Q1376Gfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
36 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69174283:69174284(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3159dupT |
| AA Mutation |
p.Ile1054TyrfsTer16(p.I1054Yfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCA10
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69175510:69175510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2773G>T |
| AA Mutation |
p.Asp925Tyr(p.D925Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69187805:69187805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2206C>A |
| AA Mutation |
p.Leu736Ile(p.L736I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69156861:69156861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3426T>A |
| AA Mutation |
p.Asn1142Lys(p.N1142K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69153471:69153471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4041G>T |
| AA Mutation |
p.Lys1347Asn(p.K1347N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69182775:69182775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2531A>C |
| AA Mutation |
p.Lys844Thr(p.K844T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69201651:69201651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1024G>A |
| AA Mutation |
p.Asp342Asn(p.D342N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69153842:69153842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3954C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69155035:69155035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3678C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69155922:69155922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3459C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69221794:69221794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.301G>T |
| AA Mutation |
p.Glu101Ter(p.E101*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269081 |
| Start |
69219628:69219628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.447C>A |
| AA Mutation |
p.Tyr149Ter(p.Y149*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269081 |
| Start |
69174311:69174312(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3131dupA |
| AA Mutation |
p.Asn1044LysfsTer2(p.N1044Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|