Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> GOLGB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694457:121694457(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6051A>C
AA Mutation p.Lys2017Asn(p.K2017N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121697062:121697062(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3446C>A
AA Mutation p.Pro1149Gln(p.P1149Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121681767:121681767(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8778T>A
AA Mutation p.Asp2926Glu(p.D2926E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696658:121696658(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3850T>A
AA Mutation p.Leu1284Met(p.L1284M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121691665:121691665(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7684A>C
AA Mutation p.Asn2562His(p.N2562H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695656:121695656(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4852C>A
AA Mutation p.Leu1618Ile(p.L1618I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121714905:121714905(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1345G>A
AA Mutation p.Ala449Thr(p.A449T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121697027:121697027(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3481G>A
AA Mutation p.Glu1161Lys(p.E1161K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694885:121694885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5623A>C
AA Mutation p.Ser1875Arg(p.S1875R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121729918:121729918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.196G>T
AA Mutation p.Asp66Tyr(p.D66Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696691:121696691(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3817C>G
AA Mutation p.Gln1273Glu(p.Q1273E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694062:121694062(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs563428325
CDS Mutation c.6446G>A
AA Mutation p.Arg2149His(p.R2149H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121664602:121664602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9658G>A
AA Mutation p.Val3220Ile(p.V3220I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694146:121694146(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6362A>G
AA Mutation p.Glu2121Gly(p.E2121G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121669304:121669304(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9214A>G
AA Mutation p.Thr3072Ala(p.T3072A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696643:121696643(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749615316
CDS Mutation c.3865C>T
AA Mutation p.Pro1289Ser(p.P1289S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695383:121695383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5125A>C
AA Mutation p.Thr1709Pro(p.T1709P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121677352:121677352(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8957A>C
AA Mutation p.Asn2986Thr(p.N2986T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694389:121694389(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6119G>T
AA Mutation p.Arg2040Ile(p.R2040I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696503:121696503(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4005A>C
AA Mutation p.Lys1335Asn(p.K1335N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121699848:121699848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1542G>T
AA Mutation p.Gln514His(p.Q514H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121716783:121716783(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1227G>T
AA Mutation p.Lys409Asn(p.K409N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694446:121694446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6062T>C
AA Mutation p.Val2021Ala(p.V2021A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121697933:121697933(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2575A>G
AA Mutation p.Ser859Gly(p.S859G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694944:121694944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5564A>G
AA Mutation p.Glu1855Gly(p.E1855G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121681851:121681851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8694G>T
AA Mutation p.Lys2898Asn(p.K2898N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694240:121694240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6268G>A
AA Mutation p.Glu2090Lys(p.E2090K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695820:121695820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4688A>T
AA Mutation p.Gln1563Leu(p.Q1563L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000340645
Start 121669213:121669213(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150865762
CDS Mutation c.9305C>T
AA Mutation p.Ala3102Val(p.A3102V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121691802:121691802(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7547G>T
AA Mutation p.Arg2516Ile(p.R2516I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694548:121694548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111753163
CDS Mutation c.5960G>A
AA Mutation p.Arg1987Gln(p.R1987Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695905:121695905(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4603G>T
AA Mutation p.Asp1535Tyr(p.D1535Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121718435:121718435(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.823G>C
AA Mutation p.Val275Leu(p.V275L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121693893:121693893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6615A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121667505:121667505(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9510T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121690967:121690967(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8382C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121692095:121692095(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7254C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121693887:121693887(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6621A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121729269:121729269(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.321G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121695180:121695180(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778956241
CDS Mutation c.5328C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121692000:121692000(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7349delA
AA Mutation p.Lys2450ArgfsTer27(p.K2450Rfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121698316:121698316(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2192delA
AA Mutation p.Asn731MetfsTer23(p.N731Mfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 43
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121696007:121696007(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4501delA
AA Mutation p.Ser1501ValfsTer38(p.S1501Vfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 44
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121693952:121693952(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6556delC
AA Mutation p.Gln2186SerfsTer19(p.Q2186Sfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 45
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121691867:121691867(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7482delA
AA Mutation p.Asp2495ThrfsTer21(p.D2495Tfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 46
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121726981:121726993(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.451_463delCATAAGCTCCAGG
AA Mutation p.His151ArgfsTer5(p.H151Rfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121690819:121690819(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8530G>T
AA Mutation p.Glu2844Ter(p.E2844*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121696829:121696829(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3679G>T
AA Mutation p.Glu1227Ter(p.E1227*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121664931:121664931(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9640C>T
AA Mutation p.Arg3214Ter(p.R3214*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121694372:121694372(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6136G>T
AA Mutation p.Glu2046Ter(p.E2046*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121696163:121696163(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4345G>T
AA Mutation p.Glu1449Ter(p.E1449*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121696343:121696343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4165G>T
AA Mutation p.Glu1389Ter(p.E1389*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121697333:121697333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3175G>T
AA Mutation p.Glu1059Ter(p.E1059*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121697444:121697444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3064G>T
AA Mutation p.Glu1022Ter(p.E1022*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121698836:121698836(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1672G>T
AA Mutation p.Glu558Ter(p.E558*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121722360:121722360(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.550G>T
AA Mutation p.Glu184Ter(p.E184*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121694840:121694840(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5668G>T
AA Mutation p.Glu1890Ter(p.E1890*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121697384:121697384(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3124G>T
AA Mutation p.Glu1042Ter(p.E1042*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121692223:121692223(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7126G>T
AA Mutation p.Glu2376Ter(p.E2376*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121696989:121696990(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3518dupA
AA Mutation p.Glu1174GlyfsTer19(p.E1174Gfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121696385:121696386(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4122_4123insTCCA
AA Mutation p.Glu1375SerfsTer20(p.E1375Sfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000340645
Start 121696386:121696387(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4121_4122insAGTGAGAGCTGCTTCTTTCTCACTAAGTT
AA Mutation p.Glu1375ValfsTer20(p.E1375Vfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence inframe_deletion
Transcription ID ENST00000340645
Start 121729968:121729970(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.144_146delAGA
AA Mutation p.Glu48del(p.E48del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> GOLGB1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694548:121694548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs111753163
CDS Mutation c.5960G>A
AA Mutation p.Arg1987Gln(p.R1987Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694927:121694927(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5581G>A
AA Mutation p.Glu1861Lys(p.E1861K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121697702:121697702(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764086634
CDS Mutation c.2806A>G
AA Mutation p.Asn936Asp(p.N936D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696598:121696598(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3910G>C
AA Mutation p.Val1304Leu(p.V1304L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694171:121694171(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6337A>G
AA Mutation p.Lys2113Glu(p.K2113E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696033:121696033(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779641750
CDS Mutation c.4475G>A
AA Mutation p.Arg1492Gln(p.R1492Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696775:121696775(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3733G>T
AA Mutation p.Asp1245Tyr(p.D1245Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121717056:121717056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.954G>T
AA Mutation p.Lys318Asn(p.K318N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121681851:121681851(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8694G>T
AA Mutation p.Lys2898Asn(p.K2898N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121691784:121691784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7565T>G
AA Mutation p.Leu2522Arg(p.L2522R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694160:121694160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6348G>T
AA Mutation p.Met2116Ile(p.M2116I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121694409:121694409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6099G>T
AA Mutation p.Glu2033Asp(p.E2033D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695007:121695007(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5501A>G
AA Mutation p.Glu1834Gly(p.E1834G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121695863:121695863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4645G>T
AA Mutation p.Asp1549Tyr(p.D1549Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000340645
Start 121696406:121696406(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762656767
CDS Mutation c.4102G>A
AA Mutation p.Glu1368Lys(p.E1368K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121695159:121695159(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778751543
CDS Mutation c.5349G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121694505:121694505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773157470
CDS Mutation c.6003C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121697580:121697580(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2928A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121693760:121693760(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6748T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000340645
Start 121690688:121690688(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8661A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121691737:121691737(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7612G>T
AA Mutation p.Glu2538Ter(p.E2538*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121692487:121692487(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6862G>T
AA Mutation p.Glu2288Ter(p.E2288*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121693835:121693835(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6673G>T
AA Mutation p.Glu2225Ter(p.E2225*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121694057:121694057(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6451G>T
AA Mutation p.Glu2151Ter(p.E2151*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000340645
Start 121697333:121697333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3175G>T
AA Mutation p.Glu1059Ter(p.E1059*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript