| Mutation ID |
36 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196652176:196652176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.58+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
37 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196679622:196679622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.620-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CFH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196685186:196685186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.913A>C |
| AA Mutation |
p.Asn305His(p.N305H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196725132:196725132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs76405615
|
| CDS Mutation |
c.1708G>A |
| AA Mutation |
p.Glu570Lys(p.E570K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196726913:196726913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2209G>A |
| AA Mutation |
p.Val737Ile(p.V737I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196690174:196690174(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1271A>C |
| AA Mutation |
p.Lys424Thr(p.K424T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196679677:196679677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.674T>G |
| AA Mutation |
p.Ile225Ser(p.I225S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196690114:196690114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1211G>T |
| AA Mutation |
p.Arg404Ile(p.R404I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196740649:196740649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2813C>A |
| AA Mutation |
p.Ser938Tyr(p.S938Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196745830:196745830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3324A>T |
| AA Mutation |
p.Lys1108Asn(p.K1108N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196673060:196673060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.141G>T |
| AA Mutation |
p.Gln47His(p.Q47H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196736869:196736869(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2459C>A |
| AA Mutation |
p.Ser820Tyr(p.S820Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196726573:196726573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1977C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196713886:196713886(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1488A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367429 |
| Start |
196745971:196745971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3465A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367429 |
| Start |
196747128:196747128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3511C>T |
| AA Mutation |
p.Arg1171Ter(p.R1171*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367429 |
| Start |
196747209:196747209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913063
|
| CDS Mutation |
c.3592G>T |
| AA Mutation |
p.Glu1198Ter(p.E1198*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|