| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000378823 |
| Start |
132595719:132595719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772468452
|
| CDS Mutation |
c.2116C>T |
| AA Mutation |
p.Arg706Ter(p.R706*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132589709:132589710(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1324_1325insAATACAAAAAAGTACAG |
| AA Mutation |
p.Ile442LysfsTer7(p.I442Kfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RAD50
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132587638:132587638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs587782307
|
| CDS Mutation |
c.833G>A |
| AA Mutation |
p.Arg278Gln(p.R278Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132618183:132618183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781612348
|
| CDS Mutation |
c.3278G>A |
| AA Mutation |
p.Arg1093Gln(p.R1093Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132640730:132640730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3677G>T |
| AA Mutation |
p.Gly1226Val(p.G1226V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132575893:132575893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.330A>C |
| AA Mutation |
p.Glu110Asp(p.E110D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132587678:132587678(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.873G>T |
| AA Mutation |
p.Glu291Asp(p.E291D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132557385:132557385(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.61G>T |
| AA Mutation |
p.Asp21Tyr(p.D21Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132579436:132579436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.485C>A |
| AA Mutation |
p.Ser162Tyr(p.S162Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132579887:132579887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs28903087
|
| CDS Mutation |
c.577C>T |
| AA Mutation |
p.Arg193Trp(p.R193W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132589822:132589822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1437G>T |
| AA Mutation |
p.Gln479His(p.Q479H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132618164:132618164(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3259C>A |
| AA Mutation |
p.His1087Asn(p.H1087N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000378823 |
| Start |
132609330:132609330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375264148
|
| CDS Mutation |
c.2970C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|