Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NIPBL

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37008029:37008029(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4261C>T
AA Mutation p.Pro1421Ser(p.P1421S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37057237:37057237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7315C>T
AA Mutation p.Pro2439Ser(p.P2439S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985675:36985675(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2495G>T
AA Mutation p.Arg832Leu(p.R832L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37014729:37014729(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4607G>A
AA Mutation p.Arg1536Gln(p.R1536Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37010149:37010149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4484T>C
AA Mutation p.Leu1495Ser(p.L1495S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37052510:37052510(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7207C>T
AA Mutation p.Arg2403Cys(p.R2403C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37014734:37014734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4612G>A
AA Mutation p.Ala1538Thr(p.A1538T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36961500:36961500(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.375G>T
AA Mutation p.Gln125His(p.Q125H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37063865:37063865(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7936C>T
AA Mutation p.Arg2646Trp(p.R2646W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36995726:36995726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3226C>T
AA Mutation p.Arg1076Cys(p.R1076C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37000856:37000856(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3542G>T
AA Mutation p.Arg1181Met(p.R1181M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37017145:37017145(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4903G>A
AA Mutation p.Glu1635Lys(p.E1635K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36955478:36955478(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.71A>G
AA Mutation p.Asn24Ser(p.N24S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985308:36985308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774516564
CDS Mutation c.2128C>T
AA Mutation p.Arg710Trp(p.R710W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985161:36985161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746789978
CDS Mutation c.1981T>C
AA Mutation p.Cys661Arg(p.C661R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000282516
Start 36962125:36962125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200692598
CDS Mutation c.461G>A
AA Mutation p.Arg154Gln(p.R154Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37064734:37064734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs186140730
CDS Mutation c.8257C>T
AA Mutation p.Arg2753Cys(p.R2753C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985596:36985596(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2416G>A
AA Mutation p.Asp806Asn(p.D806N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37017149:37017149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4907G>A
AA Mutation p.Arg1636His(p.R1636H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37017156:37017156(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4914A>C
AA Mutation p.Leu1638Phe(p.L1638F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37024690:37024690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5680C>T
AA Mutation p.Arg1894Cys(p.R1894C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37038665:37038665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6035T>C
AA Mutation p.Phe2012Ser(p.F2012S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37044432:37044432(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6194T>G
AA Mutation p.Phe2065Cys(p.F2065C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37046123:37046123(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6513T>G
AA Mutation p.Asp2171Glu(p.D2171E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37059147:37059147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7667T>G
AA Mutation p.Leu2556Arg(p.L2556R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37017098:37017098(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772077115
CDS Mutation c.4856G>A
AA Mutation p.Arg1619Gln(p.R1619Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36955541:36955541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.134G>A
AA Mutation p.Arg45Gln(p.R45Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37051827:37051827(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7003C>T
AA Mutation p.Arg2335Trp(p.R2335W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985284:36985284(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2104A>C
AA Mutation p.Thr702Pro(p.T702P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37064668:37064668(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8191A>C
AA Mutation p.Thr2731Pro(p.T2731P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36984982:36984982(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1802A>C
AA Mutation p.Lys601Thr(p.K601T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37044426:37044426(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6188A>G
AA Mutation p.Glu2063Gly(p.E2063G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37064698:37064698(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8221G>A
AA Mutation p.Ala2741Thr(p.A2741T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 37003272:37003272(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3780C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 36985685:36985685(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2505G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 37022309:37022309(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5493A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 37052407:37052407(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7104A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 37006362:37006362(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531615496
CDS Mutation c.3861C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 36976362:36976362(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1455T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 36984981:36984981(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs727503767
CDS Mutation c.1808delA
AA Mutation p.Lys603SerfsTer11(p.K603Sfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 36984687:36984687(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs34314728
CDS Mutation c.1513delA
AA Mutation p.Arg505GlufsTer35(p.R505Efs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 37008032:37008032(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4269delT
AA Mutation p.Phe1423LeufsTer15(p.F1423Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 37064797:37064797(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8326delA
AA Mutation p.Ile2776LeufsTer3(p.I2776Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000282516
Start 36985680:36985680(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587783907
CDS Mutation c.2500C>T
AA Mutation p.Arg834Ter(p.R834*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000282516
Start 36985701:36985701(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs797045752
CDS Mutation c.2521C>T
AA Mutation p.Arg841Ter(p.R841*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence stop_gained
Transcription ID ENST00000282516
Start 37000513:37000513(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80358374
CDS Mutation c.3445C>T
AA Mutation p.Arg1149Ter(p.R1149*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000282516
Start 37060902:37060902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7744C>T
AA Mutation p.Arg2582Ter(p.R2582*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000282516
Start 37002754:37002755(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3757_3758insAATAAAATAGTTCAAAATGTCAAGC
AA Mutation p.Ile1253LysfsTer2(p.I1253Kfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 37048567:37048568(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.6659dupT
AA Mutation p.Leu2220PhefsTer3(p.L2220Ffs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 50
Mutation Consequence inframe_deletion
Transcription ID ENST00000282516
Start 37000824:37000832(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3515_3523delTGAAGAAAA
AA Mutation p.Met1172_Lys1174del(p.M1172_K1174del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> NIPBL

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37022287:37022287(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5471C>T
AA Mutation p.Ser1824Leu(p.S1824L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37024690:37024690(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5680C>T
AA Mutation p.Arg1894Cys(p.R1894C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37006505:37006505(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4004G>C
AA Mutation p.Arg1335Thr(p.R1335T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985060:36985060(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1880A>C
AA Mutation p.Glu627Ala(p.E627A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36955541:36955541(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.134G>A
AA Mutation p.Arg45Gln(p.R45Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985173:36985173(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1993G>A
AA Mutation p.Glu665Lys(p.E665K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 36985479:36985479(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2299G>A
AA Mutation p.Asp767Asn(p.D767N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37060957:37060957(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7799A>G
AA Mutation p.Asp2600Gly(p.D2600G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37044443:37044443(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6205A>G
AA Mutation p.Ile2069Val(p.I2069V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000282516
Start 37045579:37045579(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6480T>G
AA Mutation p.Asp2160Glu(p.D2160E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000282516
Start 36995770:36995770(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3270A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000282516
Start 37064797:37064797(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8326delA
AA Mutation p.Ile2776LeufsTer3(p.I2776Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000282516
Start 37020492:37020492(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs797045769
CDS Mutation c.5044C>T
AA Mutation p.Arg1682Ter(p.R1682*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript