| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963159:48963160(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1661_1662insTTGGA |
| AA Mutation |
p.Thr555TrpfsTer89(p.T555Wfs*89) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963967:48963967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.855-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FSHR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48962915:48962915(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1906G>A |
| AA Mutation |
p.Asp636Asn(p.D636N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963653:48963653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1168A>C |
| AA Mutation |
p.Ser390Arg(p.S390R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48968743:48968743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809C>A |
| AA Mutation |
p.Thr270Asn(p.T270N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963406:48963406(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766731004
|
| CDS Mutation |
c.1415C>A |
| AA Mutation |
p.Thr472Lys(p.T472K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48968765:48968765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372147824
|
| CDS Mutation |
c.787G>A |
| AA Mutation |
p.Ala263Thr(p.A263T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963628:48963628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1193G>T |
| AA Mutation |
p.Arg398Met(p.R398M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48963924:48963924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.897A>C |
| AA Mutation |
p.Gln299His(p.Q299H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48968809:48968809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267599404
|
| CDS Mutation |
c.743C>T |
| AA Mutation |
p.Ser248Leu(p.S248L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000406846 |
| Start |
48962901:48962901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1920G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|