| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142562580:142562581(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.821dupT |
| AA Mutation |
p.Leu274PhefsTer13(p.L274Ffs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142542759:142542759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3358-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142549606:142549606(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs564283952
|
| CDS Mutation |
c.3044G>A |
| AA Mutation |
p.Arg1015Gln(p.R1015Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142493155:142493155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6055A>G |
| AA Mutation |
p.Asn2019Asp(p.N2019D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142466432:142466432(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6789A>C |
| AA Mutation |
p.Gln2263His(p.Q2263H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142550143:142550143(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2965C>T |
| AA Mutation |
p.Arg989Cys(p.R989C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142497094:142497094(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5657G>A |
| AA Mutation |
p.Arg1886Gln(p.R1886Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142524007:142524007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4138G>T |
| AA Mutation |
p.Asp1380Tyr(p.D1380Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142549577:142549577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3073C>T |
| AA Mutation |
p.Arg1025Cys(p.R1025C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142461954:142461954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.7178T>G |
| AA Mutation |
p.Leu2393Arg(p.L2393R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142562758:142562758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368507270
|
| CDS Mutation |
c.644G>A |
| AA Mutation |
p.Arg215His(p.R215H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142449460:142449460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7904A>C |
| AA Mutation |
p.Gln2635Pro(p.Q2635P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142499691:142499691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs146463402
|
| CDS Mutation |
c.5316G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142512452:142512452(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4660delG |
| AA Mutation |
p.Ala1554GlnfsTer3(p.A1554Qfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350721 |
| Start |
142550203:142550203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2905G>T |
| AA Mutation |
p.Glu969Ter(p.E969*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142547911:142547911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3172-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|