| Mutation ID |
41 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226207 |
| Start |
10501893:10501893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3130C>T |
| AA Mutation |
p.Gln1044Ter(p.Q1044*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
42 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10513876:10513877(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.685dupC |
| AA Mutation |
p.Leu229ProfsTer14(p.L229Pfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10500728:10500728(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142605633
|
| CDS Mutation |
c.3763G>A |
| AA Mutation |
p.Ala1255Thr(p.A1255T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10501384:10501384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3464A>G |
| AA Mutation |
p.Glu1155Gly(p.E1155G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10513868:10513868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.694G>A |
| AA Mutation |
p.Ala232Thr(p.A232T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10498675:10498675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4132A>C |
| AA Mutation |
p.Lys1378Gln(p.K1378Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10496117:10496117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5002C>G |
| AA Mutation |
p.Gln1668Glu(p.Q1668E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10495207:10495207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5280G>T |
| AA Mutation |
p.Lys1760Asn(p.K1760N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10501392:10501392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3456G>T |
| AA Mutation |
p.Glu1152Asp(p.E1152D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10502822:10502822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3027G>T |
| AA Mutation |
p.Gln1009His(p.Q1009H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10503075:10503075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2865G>T |
| AA Mutation |
p.Lys955Asn(p.K955N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10514888:10514888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.513G>T |
| AA Mutation |
p.Glu171Asp(p.E171D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10516450:10516450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs544824288
|
| CDS Mutation |
c.193G>A |
| AA Mutation |
p.Glu65Lys(p.E65K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10497148:10497148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs567549660
|
| CDS Mutation |
c.4577G>A |
| AA Mutation |
p.Arg1526His(p.R1526H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10502843:10502843(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3006T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000226207 |
| Start |
10504948:10504948(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2553G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226207 |
| Start |
10503137:10503137(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2803G>T |
| AA Mutation |
p.Glu935Ter(p.E935*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226207 |
| Start |
10512537:10512537(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1018G>T |
| AA Mutation |
p.Glu340Ter(p.E340*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|