| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75047878:75047879(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1777_1778insCTTATATTCGTTCT |
| AA Mutation |
p.Arg593ThrfsTer22(p.R593Tfs*22) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75046375:75046375(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3280+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MLH3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75048604:75048604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1052A>C |
| AA Mutation |
p.Glu351Ala(p.E351A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75049442:75049442(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370545907
|
| CDS Mutation |
c.214C>T |
| AA Mutation |
p.Arg72Cys(p.R72C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75048458:75048458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1198T>G |
| AA Mutation |
p.Ser400Ala(p.S400A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75030581:75030581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3949C>T |
| AA Mutation |
p.Arg1317Trp(p.R1317W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75046387:75046387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3269T>C |
| AA Mutation |
p.Val1090Ala(p.V1090A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75048083:75048083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1573C>A |
| AA Mutation |
p.Leu525Ile(p.L525I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75047635:75047635(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2021delA |
| AA Mutation |
p.Asn674IlefsTer6(p.N674Ifs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355774 |
| Start |
75048983:75048983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.673G>T |
| AA Mutation |
p.Glu225Ter(p.E225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000355774 |
| Start |
75047345:75047345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2311G>T |
| AA Mutation |
p.Glu771Ter(p.E771*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000355774 |
| Start |
75032180:75032180(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3716-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|