Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RELN

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103596538:103596538(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3457G>T
AA Mutation p.Val1153Phe(p.V1153F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103483665:103483665(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10169A>G
AA Mutation p.Tyr3390Cys(p.Y3390C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103498090:103498090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8830C>A
AA Mutation p.Leu2944Ile(p.L2944I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103500788:103500788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761738403
CDS Mutation c.8624C>T
AA Mutation p.Pro2875Leu(p.P2875L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103651680:103651680(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1873T>C
AA Mutation p.Ser625Pro(p.S625P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103519483:103519483(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7702A>C
AA Mutation p.Asn2568His(p.N2568H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103596469:103596469(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3526T>C
AA Mutation p.Phe1176Leu(p.F1176L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103697888:103697888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1108G>A
AA Mutation p.Gly370Ser(p.G370S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103539111:103539111(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7147G>A
AA Mutation p.Ala2383Thr(p.A2383T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103589608:103589608(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4133C>T
AA Mutation p.Ser1378Phe(p.S1378F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103498099:103498099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8821G>T
AA Mutation p.Asp2941Tyr(p.D2941Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103565428:103565428(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5060C>A
AA Mutation p.Ser1687Tyr(p.S1687Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103697906:103697906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1090C>A
AA Mutation p.Leu364Ile(p.L364I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103510959:103510959(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8166C>A
AA Mutation p.Phe2722Leu(p.F2722L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103572249:103572249(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4523T>G
AA Mutation p.Phe1508Cys(p.F1508C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103545208:103545208(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6439A>G
AA Mutation p.Lys2147Glu(p.K2147E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103589648:103589648(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4093T>A
AA Mutation p.Phe1365Ile(p.F1365I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103515394:103515394(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7910G>A
AA Mutation p.Arg2637His(p.R2637H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103496670:103496670(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9049A>G
AA Mutation p.Thr3017Ala(p.T3017A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103540253:103540253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762032224
CDS Mutation c.6874C>T
AA Mutation p.Arg2292Cys(p.R2292C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103565526:103565526(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4962G>T
AA Mutation p.Trp1654Cys(p.W1654C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103566353:103566353(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746725268
CDS Mutation c.4807C>G
AA Mutation p.Gln1603Glu(p.Q1603E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103611619:103611619(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761991712
CDS Mutation c.2887G>A
AA Mutation p.Val963Ile(p.V963I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103611769:103611769(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771172788
CDS Mutation c.2737C>T
AA Mutation p.Arg913Cys(p.R913C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103593705:103593705(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774353962
CDS Mutation c.3889C>T
AA Mutation p.Pro1297Ser(p.P1297S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103490782:103490782(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9491C>A
AA Mutation p.Ser3164Tyr(p.S3164Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103594389:103594389(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3643G>A
AA Mutation p.Asp1215Asn(p.D1215N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103574204:103574204(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4399G>T
AA Mutation p.Gly1467Cys(p.G1467C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103566353:103566353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4807C>A
AA Mutation p.Gln1603Lys(p.Q1603K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103551223:103551223(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374232523
CDS Mutation c.6146C>T
AA Mutation p.Ala2049Val(p.A2049V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103553663:103553663(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5966C>T
AA Mutation p.Ala1989Val(p.A1989V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103482963:103482963(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10190G>A
AA Mutation p.Arg3397Gln(p.R3397Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103522060:103522060(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7630G>C
AA Mutation p.Gly2544Arg(p.G2544R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103535382:103535382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7283G>A
AA Mutation p.Arg2428Gln(p.R2428Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103472904:103472904(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10291C>T
AA Mutation p.Arg3431Cys(p.R3431C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103486354:103486354(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781713047
CDS Mutation c.9826G>A
AA Mutation p.Ala3276Thr(p.A3276T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103535443:103535443(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7222C>T
AA Mutation p.His2408Tyr(p.H2408Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103565309:103565309(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757649565
CDS Mutation c.5179C>T
AA Mutation p.Arg1727Trp(p.R1727W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103603382:103603382(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3255A>C
AA Mutation p.Glu1085Asp(p.E1085D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103604415:103604415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3077G>A
AA Mutation p.Ser1026Asn(p.S1026N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103635454:103635454(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2436T>G
AA Mutation p.His812Gln(p.H812Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103593831:103593831(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3763T>C
AA Mutation p.Trp1255Arg(p.W1255R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103553527:103553527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6006A>C
AA Mutation p.Glu2002Asp(p.E2002D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103496594:103496594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9125C>T
AA Mutation p.Ala3042Val(p.A3042V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103593854:103593854(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3740A>G
AA Mutation p.Tyr1247Cys(p.Y1247C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103497850:103497850(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8920G>T
AA Mutation p.Gly2974Cys(p.G2974C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103917155:103917155(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.257G>A
AA Mutation p.Gly86Asp(p.G86D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103497847:103497847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369856463
CDS Mutation c.8923G>A
AA Mutation p.Val2975Met(p.V2975M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103604464:103604464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375752077
CDS Mutation c.3028C>T
AA Mutation p.Arg1010Cys(p.R1010C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103497906:103497906(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8864G>A
AA Mutation p.Arg2955His(p.R2955H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103551177:103551177(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764737797
CDS Mutation c.6192C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103498109:103498109(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144728023
CDS Mutation c.8811G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103566608:103566608(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377118940
CDS Mutation c.4740G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103589700:103589700(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762723785
CDS Mutation c.4041C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103652676:103652676(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1638A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103574106:103574106(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs374062563
CDS Mutation c.4497C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103539112:103539112(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775495757
CDS Mutation c.7146C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103652568:103652568(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138532222
CDS Mutation c.1746G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103551228:103551228(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs79161241
CDS Mutation c.6141C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103989186:103989186(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.171T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103596461:103596461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3534A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103522055:103522055(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114894883
CDS Mutation c.7635C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103604363:103604363(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149062691
CDS Mutation c.3129C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103553482:103553482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6051G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000428762
Start 103483777:103483777(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10057delC
AA Mutation p.His3353ThrfsTer46(p.H3353Tfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence frameshift_variant
Transcription ID ENST00000428762
Start 103989191:103989209(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.148_166delGGGGAGCAGGGCGAGGTGC
AA Mutation p.Gly50SerfsTer21(p.G50Sfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103728119:103728119(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.745C>T
AA Mutation p.Arg249Ter(p.R249*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103654134:103654134(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1513G>T
AA Mutation p.Glu505Ter(p.E505*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103542828:103542828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750279128
CDS Mutation c.6574C>T
AA Mutation p.Arg2192Ter(p.R2192*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103611796:103611796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2710G>T
AA Mutation p.Gly904Ter(p.G904*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence frameshift_variant
Transcription ID ENST00000428762
Start 103542822:103542823(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6579_6580insCTATTATACATTACGA
AA Mutation p.Cys2194LeufsTer11(p.C2194Lfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 72
Mutation Consequence inframe_deletion
Transcription ID ENST00000428762
Start 103540338:103540340(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6787_6789delGAG
AA Mutation p.Glu2263del(p.E2263del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> RELN

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103650352:103650352(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201735865
CDS Mutation c.1924G>A
AA Mutation p.Ala642Thr(p.A642T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103700992:103700992(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772745844
CDS Mutation c.820C>T
AA Mutation p.Arg274Cys(p.R274C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103723160:103723160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.785C>A
AA Mutation p.Ser262Tyr(p.S262Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103490706:103490706(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9567A>T
AA Mutation p.Lys3189Asn(p.K3189N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103483671:103483671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10163T>G
AA Mutation p.Val3388Gly(p.V3388G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103574164:103574164(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4439G>C
AA Mutation p.Gly1480Ala(p.G1480A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103593720:103593720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3874G>A
AA Mutation p.Asp1292Asn(p.D1292N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103515335:103515335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7969A>G
AA Mutation p.Asn2657Asp(p.N2657D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103519402:103519402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7783C>A
AA Mutation p.Leu2595Ile(p.L2595I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103553717:103553717(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5912T>G
AA Mutation p.Phe1971Cys(p.F1971C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103510959:103510959(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8166C>A
AA Mutation p.Phe2722Leu(p.F2722L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103542856:103542856(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6546C>A
AA Mutation p.Phe2182Leu(p.F2182L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103557976:103557976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5603T>G
AA Mutation p.Phe1868Cys(p.F1868C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000428762
Start 103561951:103561951(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5213C>A
AA Mutation p.Ser1738Tyr(p.S1738Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103565309:103565309(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757649565
CDS Mutation c.5179C>T
AA Mutation p.Arg1727Trp(p.R1727W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103566645:103566645(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767133532
CDS Mutation c.4703C>T
AA Mutation p.Ala1568Val(p.A1568V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103652642:103652642(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1672T>C
AA Mutation p.Phe558Leu(p.F558L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103682158:103682158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1247T>C
AA Mutation p.Ile416Thr(p.I416T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103522050:103522050(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770539689
CDS Mutation c.7640C>T
AA Mutation p.Ala2547Val(p.A2547V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103557055:103557055(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5719C>A
AA Mutation p.Leu1907Ile(p.L1907I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103589649:103589649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4092C>A
AA Mutation p.Asp1364Glu(p.D1364E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000428762
Start 103545267:103545267(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6380A>C
AA Mutation p.Tyr2127Ser(p.Y2127S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103574250:103574250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370743731
CDS Mutation c.4353C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103553791:103553791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5838C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000428762
Start 103589700:103589700(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762723785
CDS Mutation c.4041C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103593738:103593738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3856C>T
AA Mutation p.Arg1286Ter(p.R1286*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence stop_gained
Transcription ID ENST00000428762
Start 103700997:103700997(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.815C>A
AA Mutation p.Ser272Ter(p.S272*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000428762
Start 103545345:103545345(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6303-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 29
Mutation Consequence splice_donor_variant
Transcription ID ENST00000428762
Start 103593681:103593681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3912+1G>A
Mutation Classification Splice_Site
Feature Type Transcript