Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RYR2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237454422:237454422(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1324G>A
AA Mutation p.Ala442Thr(p.A442T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237770846:237770846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11516T>A
AA Mutation p.Leu3839His(p.L3839H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237566672:237566672(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200236750
CDS Mutation c.3320C>T
AA Mutation p.Thr1107Met(p.T1107M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237627888:237627888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6248C>T
AA Mutation p.Ala2083Val(p.A2083V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237496562:237496562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2013G>T
AA Mutation p.Lys671Asn(p.K671N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237503407:237503407(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2515G>A
AA Mutation p.Glu839Lys(p.E839K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237591848:237591848(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4270T>C
AA Mutation p.Ser1424Pro(p.S1424P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614617:237614617(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5489T>C
AA Mutation p.Ile1830Thr(p.I1830T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237634972:237634972(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757350594
CDS Mutation c.6772C>T
AA Mutation p.Arg2258Cys(p.R2258C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237654410:237654410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7961A>G
AA Mutation p.Gln2654Arg(p.Q2654R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660820:237660820(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8309T>G
AA Mutation p.Ile2770Ser(p.I2770S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237678103:237678103(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372703473
CDS Mutation c.8886C>A
AA Mutation p.Phe2962Leu(p.F2962L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237730264:237730264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10843C>T
AA Mutation p.Arg3615Trp(p.R3615W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237778755:237778755(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11865G>T
AA Mutation p.Gln3955His(p.Q3955H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237786015:237786015(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13307A>C
AA Mutation p.Lys4436Thr(p.K4436T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784010:237784010(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758785338
CDS Mutation c.12298G>A
AA Mutation p.Val4100Ile(p.V4100I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237808962:237808962(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14360A>T
AA Mutation p.Asn4787Ile(p.N4787I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783900:237783900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12188C>T
AA Mutation p.Thr4063Met(p.T4063M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614676:237614676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5548G>A
AA Mutation p.Val1850Met(p.V1850M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237423135:237423135(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs551099887
CDS Mutation c.892C>T
AA Mutation p.Arg298Cys(p.R298C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237530449:237530449(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2845C>T
AA Mutation p.His949Tyr(p.H949Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237628070:237628070(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770847446
CDS Mutation c.6430C>T
AA Mutation p.Arg2144Cys(p.R2144C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237423225:237423225(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201669522
CDS Mutation c.982G>A
AA Mutation p.Ala328Thr(p.A328T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237651461:237651461(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7784A>G
AA Mutation p.Asp2595Gly(p.D2595G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237655908:237655908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8053T>G
AA Mutation p.Tyr2685Asp(p.Y2685D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237674122:237674122(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8617C>T
AA Mutation p.Pro2873Ser(p.P2873S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784730:237784730(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13018G>A
AA Mutation p.Asp4340Asn(p.D4340N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614679:237614679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5551T>A
AA Mutation p.Phe1851Ile(p.F1851I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237569199:237569199(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3478G>A
AA Mutation p.Asp1160Asn(p.D1160N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784148:237784148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12436G>A
AA Mutation p.Glu4146Lys(p.E4146K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237445516:237445516(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1286T>G
AA Mutation p.Phe429Cys(p.F429C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237732118:237732118(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11008C>A
AA Mutation p.Leu3670Met(p.L3670M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237788099:237788099(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13440C>A
AA Mutation p.Phe4480Leu(p.F4480L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237791442:237791442(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13490G>A
AA Mutation p.Arg4497His(p.R4497H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237798070:237798070(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13990G>T
AA Mutation p.Asp4664Tyr(p.D4664Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237658004:237658004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8190C>A
AA Mutation p.Asp2730Glu(p.D2730E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783736:237783736(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12024C>A
AA Mutation p.Asn4008Lys(p.N4008K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237593588:237593588(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753707154
CDS Mutation c.4388G>A
AA Mutation p.Arg1463His(p.R1463H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237569236:237569236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768755342
CDS Mutation c.3515C>T
AA Mutation p.Thr1172Ile(p.T1172I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784136:237784136(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761834154
CDS Mutation c.12424G>A
AA Mutation p.Ala4142Thr(p.A4142T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237417071:237417071(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373326624
CDS Mutation c.796G>A
AA Mutation p.Ala266Thr(p.A266T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237469116:237469116(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1637A>C
AA Mutation p.Lys546Thr(p.K546T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237708911:237708911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9955T>G
AA Mutation p.Phe3319Val(p.F3319V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237808975:237808975(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14373A>C
AA Mutation p.Lys4791Asn(p.K4791N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237819174:237819174(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14572C>A
AA Mutation p.Leu4858Ile(p.L4858I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237709043:237709043(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10087G>T
AA Mutation p.Ala3363Ser(p.A3363S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237831531:237831531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14774T>C
AA Mutation p.Leu4925Pro(p.L4925P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590832:237590832(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4000T>A
AA Mutation p.Leu1334Met(p.L1334M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783921:237783921(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777939821
CDS Mutation c.12209C>T
AA Mutation p.Ala4070Val(p.A4070V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237593629:237593629(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4429C>T
AA Mutation p.His1477Tyr(p.H1477Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237674846:237674846(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8830G>A
AA Mutation p.Asp2944Asn(p.D2944N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237708968:237708968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10012G>T
AA Mutation p.Asp3338Tyr(p.D3338Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590782:237590782(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752107643
CDS Mutation c.3950C>T
AA Mutation p.Thr1317Met(p.T1317M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237627888:237627888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6248C>A
AA Mutation p.Ala2083Asp(p.A2083D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783992:237783992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12280A>G
AA Mutation p.Ile4094Val(p.I4094V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237491823:237491823(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1726C>T
AA Mutation p.His576Tyr(p.H576Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237496572:237496572(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2023T>A
AA Mutation p.Tyr675Asn(p.Y675N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784129:237784129(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12417G>C
AA Mutation p.Met4139Ile(p.M4139I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237387344:237387344(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.640G>A
AA Mutation p.Val214Met(p.V214M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237831531:237831531(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14774T>G
AA Mutation p.Leu4925Arg(p.L4925R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237454506:237454506(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1408T>G
AA Mutation p.Leu470Val(p.L470V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 62
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237650019:237650019(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7655T>A
AA Mutation p.Val2552Glu(p.V2552E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 63
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237330939:237330939(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.230C>T
AA Mutation p.Ala77Val(p.A77V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 64
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237595505:237595505(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs564869863
CDS Mutation c.4444C>T
AA Mutation p.Arg1482Cys(p.R1482C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 65
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237591819:237591819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504850
CDS Mutation c.4241G>A
AA Mutation p.Arg1414Gln(p.R1414Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237832606:237832606(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14863G>A
AA Mutation p.Gly4955Arg(p.G4955R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237569265:237569265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3544C>T
AA Mutation p.Leu1182Phe(p.L1182F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237454551:237454551(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766420655
CDS Mutation c.1453C>T
AA Mutation p.Arg485Trp(p.R485W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237491901:237491901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1804G>T
AA Mutation p.Asp602Tyr(p.D602Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237566643:237566643(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3291G>T
AA Mutation p.Lys1097Asn(p.K1097N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237808971:237808971(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750780758
CDS Mutation c.14369G>A
AA Mutation p.Arg4790Gln(p.R4790Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660919:237660919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780643623
CDS Mutation c.8408G>A
AA Mutation p.Arg2803Gln(p.R2803Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237650060:237650060(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773475551
CDS Mutation c.7696C>T
AA Mutation p.Arg2566Trp(p.R2566W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590922:237590922(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4090G>A
AA Mutation p.Glu1364Lys(p.E1364K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 75
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237548481:237548481(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2957T>A
AA Mutation p.Ile986Asn(p.I986N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 76
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237593609:237593609(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4409G>T
AA Mutation p.Gly1470Val(p.G1470V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 77
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590806:237590806(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3974C>T
AA Mutation p.Ala1325Val(p.A1325V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 78
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783864:237783864(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12152C>T
AA Mutation p.Ala4051Val(p.A4051V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 79
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237566731:237566731(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3379G>A
AA Mutation p.Glu1127Lys(p.E1127K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 80
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784296:237784296(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12584A>G
AA Mutation p.Asp4195Gly(p.D4195G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 81
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614407:237614407(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765106198
CDS Mutation c.5279G>A
AA Mutation p.Arg1760Gln(p.R1760Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 82
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784766:237784766(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13054A>G
AA Mutation p.Lys4352Glu(p.K4352E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 83
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237548550:237548550(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754812132
CDS Mutation c.3026G>A
AA Mutation p.Arg1009Gln(p.R1009Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 84
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237617365:237617365(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5795T>C
AA Mutation p.Phe1932Ser(p.F1932S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 85
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237602106:237602106(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4678A>C
AA Mutation p.Ile1560Leu(p.I1560L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 86
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237602031:237602031(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4603C>T
AA Mutation p.Pro1535Ser(p.P1535S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 87
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237788041:237788041(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13382A>C
AA Mutation p.Lys4461Thr(p.K4461T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 88
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590707:237590707(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3875C>A
AA Mutation p.Ser1292Tyr(p.S1292Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 89
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237617433:237617433(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779477348
CDS Mutation c.5863G>T
AA Mutation p.Ala1955Ser(p.A1955S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 90
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237700458:237700458(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9358G>A
AA Mutation p.Asp3120Asn(p.D3120N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 91
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237726291:237726291(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765835441
CDS Mutation c.10708C>T
AA Mutation p.Arg3570Trp(p.R3570W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 92
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784253:237784253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775477470
CDS Mutation c.12541G>A
AA Mutation p.Gly4181Arg(p.G4181R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 93
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784551:237784551(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12839T>C
AA Mutation p.Val4280Ala(p.V4280A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 94
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237795318:237795318(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13943T>G
AA Mutation p.Phe4648Cys(p.F4648C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 95
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237423130:237423130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.887G>A
AA Mutation p.Arg296Gln(p.R296Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 96
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237589955:237589955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3761G>T
AA Mutation p.Arg1254Met(p.R1254M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 97
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237773641:237773641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11768A>G
AA Mutation p.Tyr3923Cys(p.Y3923C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 98
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237628019:237628019(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6379C>T
AA Mutation p.Arg2127Trp(p.R2127W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237756315:237756315(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11173C>A
AA Mutation p.Leu3725Ile(p.L3725I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784121:237784121(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs267598439
CDS Mutation c.12409G>A
AA Mutation p.Glu4137Lys(p.E4137K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237643421:237643421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7316C>T
AA Mutation p.Ala2439Val(p.A2439V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237417078:237417078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.803C>T
AA Mutation p.Ser268Phe(p.S268F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237496680:237496680(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2131G>A
AA Mutation p.Glu711Lys(p.E711K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237456723:237456723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376007579
CDS Mutation c.1600T>C
AA Mutation p.Tyr534His(p.Y534H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237819066:237819066(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14464C>T
AA Mutation p.Arg4822Cys(p.R4822C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 106
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237793964:237793964(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13880A>G
AA Mutation p.Lys4627Arg(p.K4627R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 107
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237680558:237680558(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8998G>C
AA Mutation p.Glu3000Gln(p.E3000Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 108
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590902:237590902(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4070A>G
AA Mutation p.Asp1357Gly(p.D1357G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 109
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237726285:237726285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10702G>A
AA Mutation p.Val3568Met(p.V3568M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 110
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237756288:237756288(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11146G>A
AA Mutation p.Glu3716Lys(p.E3716K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 111
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237500889:237500889(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2382C>A
AA Mutation p.Phe794Leu(p.F794L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 112
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237548556:237548556(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3032G>A
AA Mutation p.Arg1011Gln(p.R1011Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 113
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237778766:237778766(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11876C>T
AA Mutation p.Ser3959Leu(p.S3959L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 114
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237791497:237791497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13545C>A
AA Mutation p.Phe4515Leu(p.F4515L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 115
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237454476:237454476(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1378A>G
AA Mutation p.Ile460Val(p.I460V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 116
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237628074:237628074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6434G>T
AA Mutation p.Gly2145Val(p.G2145V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 117
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237270576:237270576(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.128G>A
AA Mutation p.Gly43Asp(p.G43D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 118
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237503429:237503429(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2537A>G
AA Mutation p.Tyr846Cys(p.Y846C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 119
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237666569:237666569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8494A>G
AA Mutation p.Thr2832Ala(p.T2832A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 120
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237506741:237506741(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2645G>T
AA Mutation p.Arg882Ile(p.R882I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 121
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237707162:237707162(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9794G>T
AA Mutation p.Cys3265Phe(p.C3265F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 122
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237623846:237623846(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5998C>A
AA Mutation p.His2000Asn(p.H2000N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 123
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237828390:237828390(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14600T>A
AA Mutation p.Ile4867Asn(p.I4867N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 124
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237566723:237566723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779640835
CDS Mutation c.3371C>T
AA Mutation p.Pro1124Leu(p.P1124L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 125
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237798062:237798062(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13982A>G
AA Mutation p.Tyr4661Cys(p.Y4661C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 126
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237625721:237625721(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6083G>A
AA Mutation p.Arg2028His(p.R2028H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 127
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237727172:237727172(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10811G>A
AA Mutation p.Arg3604Gln(p.R3604Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 128
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237819095:237819095(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375456172
CDS Mutation c.14493C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 129
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237783796:237783796(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751821960
CDS Mutation c.12084G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 130
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237638386:237638386(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6822G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 131
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237640942:237640942(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371560909
CDS Mutation c.7161G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 132
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237387295:237387295(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.591C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 133
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237595567:237595567(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4506T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 134
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237628028:237628028(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6388C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 135
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237702018:237702018(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9408C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 136
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237773615:237773615(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11742A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 137
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784147:237784147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12435C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 138
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237707022:237707022(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9654C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 139
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784246:237784246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12534C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 140
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237614327:237614327(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758505260
CDS Mutation c.5199G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 141
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237387298:237387298(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727504676
CDS Mutation c.594C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 142
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237330914:237330914(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.205C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 143
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237591829:237591829(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4251T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 144
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237593532:237593532(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4332C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 145
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237655886:237655886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8031T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 146
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237708886:237708886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9930G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 147
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237569165:237569165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3444C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 148
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237792236:237792236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377503418
CDS Mutation c.13695C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 149
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237548548:237548548(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566157997
CDS Mutation c.3024G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 150
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237042527:237042527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 151
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237492974:237492974(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1848A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 152
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237550646:237550646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3169C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 153
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237589890:237589890(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3696A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 154
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237614567:237614567(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5439T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 155
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237631508:237631508(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6522C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 156
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237723244:237723244(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749880635
CDS Mutation c.10671G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 157
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237454418:237454418(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1320G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 158
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237042542:237042542(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.21C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 159
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237595519:237595519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780368223
CDS Mutation c.4458T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 160
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237643338:237643338(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367994477
CDS Mutation c.7233C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 161
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237655844:237655844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7989A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 162
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237610830:237610830(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780111656
CDS Mutation c.4752G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 163
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237387319:237387319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs112680790
CDS Mutation c.615C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 164
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784252:237784252(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772125105
CDS Mutation c.12540C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 165
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237614786:237614786(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745731983
CDS Mutation c.5658C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 166
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237657998:237657998(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8184C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 167
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237792286:237792286(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.13747delT
AA Mutation p.Ser4583LeufsTer11(p.S4583Lfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 168
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237590812:237590812(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3984delT
AA Mutation p.Phe1328LeufsTer19(p.F1328Lfs*19)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 169
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237454490:237454490(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1397delC
AA Mutation p.Pro466GlnfsTer5(p.P466Qfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 170
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237614358:237614358(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5235delA
AA Mutation p.Lys1745AsnfsTer25(p.K1745Nfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 171
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237708990:237708990(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.10039delG
AA Mutation p.Asp3347ThrfsTer10(p.D3347Tfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 172
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237633654:237633654(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6636delA
AA Mutation p.Ala2213LeufsTer22(p.A2213Lfs*22)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 173
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237530488:237530488(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2890delA
AA Mutation p.Met964Ter(p.M964*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 174
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237614727:237614727(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs565583530
CDS Mutation c.5599G>T
AA Mutation p.Glu1867Ter(p.E1867*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 175
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237650072:237650072(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7708G>T
AA Mutation p.Glu2570Ter(p.E2570*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 176
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237711784:237711784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10270G>T
AA Mutation p.Glu3424Ter(p.E3424*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 177
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237798067:237798067(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13987C>T
AA Mutation p.Arg4663Ter(p.R4663*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 178
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237589903:237589903(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3709G>T
AA Mutation p.Glu1237Ter(p.E1237*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 179
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237784052:237784052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12340C>T
AA Mutation p.Arg4114Ter(p.R4114*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 180
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237639161:237639161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200921429
CDS Mutation c.7075C>T
AA Mutation p.Arg2359Ter(p.R2359*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 181
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237441346:237441346(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1033G>T
AA Mutation p.Glu345Ter(p.E345*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 182
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237610906:237610906(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs794728738
CDS Mutation c.4828C>T
AA Mutation p.Arg1610Ter(p.R1610*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 183
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237793888:237793888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13804C>T
AA Mutation p.Arg4602Ter(p.R4602*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 184
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237798082:237798082(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14002G>T
AA Mutation p.Glu4668Ter(p.E4668*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 185
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237617481:237617481(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5911G>T
AA Mutation p.Glu1971Ter(p.E1971*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 186
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237660840:237660840(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8329G>T
AA Mutation p.Glu2777Ter(p.E2777*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 187
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237785984:237785984(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13276G>T
AA Mutation p.Glu4426Ter(p.E4426*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 188
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237496686:237496687(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2141dupG
AA Mutation p.Gly715TrpfsTer7(p.G715Wfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 189
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237548442:237548443(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2920dupA
AA Mutation p.Ser974LysfsTer32(p.S974Kfs*32)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 190
Mutation Consequence frameshift_variant
Transcription ID ENST00000366574
Start 237628075:237628076(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.6435_6436insGGTCT
AA Mutation p.Leu2146GlyfsTer3(p.L2146Gfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 191
Mutation Consequence splice_donor_variant
Transcription ID ENST00000366574
Start 237759854:237759854(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11402+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 192
Mutation Consequence inframe_insertion
Transcription ID ENST00000366574
Start 237770820:237770821(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.11490_11491insAAC
AA Mutation p.Leu3830_Gln3831insAsn(p.L3830_Q3831insN)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> RYR2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590750:237590750(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3918G>A
AA Mutation p.Met1306Ile(p.M1306I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237454560:237454560(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1462C>A
AA Mutation p.Leu488Ile(p.L488I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237709002:237709002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs786205455
CDS Mutation c.10046C>T
AA Mutation p.Ser3349Leu(p.S3349L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237783923:237783923(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779394700
CDS Mutation c.12211G>A
AA Mutation p.Glu4071Lys(p.E4071K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237633684:237633684(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6662T>C
AA Mutation p.Leu2221Ser(p.L2221S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237702052:237702052(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9442G>A
AA Mutation p.Val3148Met(p.V3148M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237709014:237709014(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10058T>C
AA Mutation p.Leu3353Pro(p.L3353P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237506813:237506813(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs397516522
CDS Mutation c.2717C>T
AA Mutation p.Pro906Leu(p.P906L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237705286:237705286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9523C>G
AA Mutation p.Leu3175Val(p.L3175V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237590752:237590752(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3920C>A
AA Mutation p.Pro1307Gln(p.P1307Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237639017:237639017(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6931G>A
AA Mutation p.Glu2311Lys(p.E2311K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660012:237660012(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8236A>G
AA Mutation p.Ile2746Val(p.I2746V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237830576:237830576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14702T>G
AA Mutation p.Val4901Gly(p.V4901G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237674213:237674213(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8708T>C
AA Mutation p.Val2903Ala(p.V2903A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237627871:237627871(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6231C>A
AA Mutation p.Asp2077Glu(p.D2077E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614515:237614515(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5387C>A
AA Mutation p.Thr1796Lys(p.T1796K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784383:237784383(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12671A>G
AA Mutation p.Glu4224Gly(p.E4224G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237788046:237788046(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13387A>G
AA Mutation p.Arg4463Gly(p.R4463G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000366574
Start 237445521:237445521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1291A>T
AA Mutation p.Arg431Trp(p.R431W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237614716:237614716(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770863319
CDS Mutation c.5588C>T
AA Mutation p.Thr1863Met(p.T1863M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237270500:237270500(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.52G>A
AA Mutation p.Asp18Asn(p.D18N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237511732:237511732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2763C>A
AA Mutation p.Phe921Leu(p.F921L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237593582:237593582(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4382G>T
AA Mutation p.Arg1461Ile(p.R1461I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237617392:237617392(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373600053
CDS Mutation c.5822G>A
AA Mutation p.Arg1941His(p.R1941H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237732089:237732089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10979G>T
AA Mutation p.Arg3660Ile(p.R3660I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784417:237784417(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12705C>A
AA Mutation p.Phe4235Leu(p.F4235L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237718496:237718496(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375947003
CDS Mutation c.10529G>A
AA Mutation p.Arg3510His(p.R3510H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237506785:237506785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778761801
CDS Mutation c.2689A>C
AA Mutation p.Lys897Gln(p.K897Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237638475:237638475(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6911T>G
AA Mutation p.Phe2304Cys(p.F2304C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237660878:237660878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8367T>G
AA Mutation p.Ile2789Met(p.I2789M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237733746:237733746(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11081T>G
AA Mutation p.Ile3694Ser(p.I3694S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784116:237784116(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764202302
CDS Mutation c.12404G>A
AA Mutation p.Arg4135His(p.R4135H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237791460:237791460(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13508G>T
AA Mutation p.Arg4503Ile(p.R4503I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000366574
Start 237784590:237784590(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12878C>G
AA Mutation p.Thr4293Ser(p.T4293S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237707211:237707211(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9843G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237042548:237042548(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.27C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237595549:237595549(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370082063
CDS Mutation c.4488C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237784390:237784390(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768348987
CDS Mutation c.12678G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237387289:237387289(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.585T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237700401:237700401(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9301C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000366574
Start 237369585:237369585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.361C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237503311:237503311(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763802687
CDS Mutation c.2419C>T
AA Mutation p.Arg807Ter(p.R807*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000366574
Start 237614448:237614448(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5320G>T
AA Mutation p.Glu1774Ter(p.E1774*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence splice_donor_variant
Transcription ID ENST00000366574
Start 237417124:237417124(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772984053
CDS Mutation c.848+1G>A
Mutation Classification Splice_Site
Feature Type Transcript