| Mutation ID |
47 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51140987:51140988(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1234dupA |
| AA Mutation |
p.Thr412AsnfsTer26(p.T412Nfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51139330:51139331(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2891dupC |
| AA Mutation |
p.Val965SerfsTer11(p.V965Sfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SALL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51141975:51141975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376234367
|
| CDS Mutation |
c.247G>A |
| AA Mutation |
p.Glu83Lys(p.E83K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51140817:51140817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1405C>T |
| AA Mutation |
p.Arg469Cys(p.R469C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51140976:51140976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1246T>G |
| AA Mutation |
p.Leu416Val(p.L416V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51140719:51140719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1503G>T |
| AA Mutation |
p.Glu501Asp(p.E501D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51142124:51142124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.98C>T |
| AA Mutation |
p.Pro33Leu(p.P33L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51139824:51139824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200755920
|
| CDS Mutation |
c.2398G>A |
| AA Mutation |
p.Asp800Asn(p.D800N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51139770:51139770(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2452T>G |
| AA Mutation |
p.Phe818Val(p.F818V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51140730:51140730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771745111
|
| CDS Mutation |
c.1492C>T |
| AA Mutation |
p.Arg498Cys(p.R498C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51138707:51138707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769014673
|
| CDS Mutation |
c.3515C>T |
| AA Mutation |
p.Thr1172Met(p.T1172M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51139891:51139891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144747142
|
| CDS Mutation |
c.2331C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51138952:51138952(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143637930
|
| CDS Mutation |
c.3270C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51139987:51139987(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778105407
|
| CDS Mutation |
c.2235G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51141492:51141492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.730C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51141580:51141580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762501097
|
| CDS Mutation |
c.642G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51141481:51141481(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372297077
|
| CDS Mutation |
c.741C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51137172:51137172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140524372
|
| CDS Mutation |
c.3915C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251020 |
| Start |
51137504:51137504(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3583C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|