| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192767:64192768(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.519dupT |
| AA Mutation |
p.Ser174Ter(p.S174*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192179:64192180(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1101_1107dupAGGTGGG |
| AA Mutation |
p.Glu370ArgfsTer10(p.E370Rfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMER1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64190033:64190033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs56253937
|
| CDS Mutation |
c.3254C>T |
| AA Mutation |
p.Pro1085Leu(p.P1085L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64191666:64191666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1621A>C |
| AA Mutation |
p.Asn541His(p.N541H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192238:64192238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1049G>A |
| AA Mutation |
p.Arg350Lys(p.R350K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192613:64192613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.674G>T |
| AA Mutation |
p.Arg225Ile(p.R225I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64191901:64191901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1386A>C |
| AA Mutation |
p.Glu462Asp(p.E462D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64193017:64193017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148294124
|
| CDS Mutation |
c.270C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64191828:64191828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1459C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192186:64192196(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1091_1101delCCTACCAAGGA |
| AA Mutation |
p.Thr364ArgfsTer10(p.T364Rfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330258 |
| Start |
64192768:64192768(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.519delT |
| AA Mutation |
p.Phe173LeufsTer36(p.F173Lfs*36) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64192215:64192215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137852217
|
| CDS Mutation |
c.1072C>T |
| AA Mutation |
p.Arg358Ter(p.R358*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64191486:64191486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1801C>T |
| AA Mutation |
p.Arg601Ter(p.R601*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64191903:64191903(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1384G>T |
| AA Mutation |
p.Glu462Ter(p.E462*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64192230:64192230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs137852216
|
| CDS Mutation |
c.1057C>T |
| AA Mutation |
p.Arg353Ter(p.R353*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64191411:64191411(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1876C>T |
| AA Mutation |
p.Arg626Ter(p.R626*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000330258 |
| Start |
64192068:64192068(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1219G>T |
| AA Mutation |
p.Glu407Ter(p.E407*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|