Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> AKAP9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92038750:92038750(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4670A>C
AA Mutation p.Lys1557Thr(p.K1557T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92045096:92045096(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144269839
CDS Mutation c.5251C>T
AA Mutation p.Arg1751Cys(p.R1751C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92086305:92086305(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9102C>A
AA Mutation p.Phe3034Leu(p.F3034L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001170:92001170(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752626437
CDS Mutation c.1253T>C
AA Mutation p.Ile418Thr(p.I418T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92040820:92040820(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4839G>A
AA Mutation p.Met1613Ile(p.M1613I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92095153:92095153(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749167841
CDS Mutation c.9709C>T
AA Mutation p.Arg3237Trp(p.R3237W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002415:92002415(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs537099180
CDS Mutation c.2498A>G
AA Mutation p.Lys833Arg(p.K833R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92096887:92096887(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779243745
CDS Mutation c.9928C>T
AA Mutation p.Arg3310Trp(p.R3310W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002038:92002038(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2121G>T
AA Mutation p.Gln707His(p.Q707H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92070067:92070067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6368A>G
AA Mutation p.Asp2123Gly(p.D2123G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001791:92001791(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1874T>C
AA Mutation p.Leu625Pro(p.L625P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92003045:92003045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3128G>C
AA Mutation p.Gly1043Ala(p.G1043A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92079139:92079139(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7006A>G
AA Mutation p.Ser2336Gly(p.S2336G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92096930:92096930(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9971C>T
AA Mutation p.Ala3324Val(p.A3324V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92097770:92097770(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10583T>C
AA Mutation p.Val3528Ala(p.V3528A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 91941134:91941134(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35C>T
AA Mutation p.Ala12Val(p.A12V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92079392:92079392(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7259A>G
AA Mutation p.Asn2420Ser(p.N2420S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001568:92001568(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140664656
CDS Mutation c.1651A>G
AA Mutation p.Ile551Val(p.I551V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92000906:92000906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.989T>A
AA Mutation p.Ile330Asn(p.I330N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92052738:92052738(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5381C>G
AA Mutation p.Ser1794Cys(p.S1794C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92016237:92016237(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3721G>A
AA Mutation p.Glu1241Lys(p.E1241K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 91995752:91995752(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.882C>A
AA Mutation p.Phe294Leu(p.F294L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002226:92002226(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2309T>G
AA Mutation p.Phe770Cys(p.F770C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92100971:92100971(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11012C>T
AA Mutation p.Ala3671Val(p.A3671V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 91994639:91994639(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.595G>A
AA Mutation p.Ala199Thr(p.A199T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002938:92002938(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3021A>C
AA Mutation p.Glu1007Asp(p.E1007D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92042759:92042759(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5150T>C
AA Mutation p.Leu1717Ser(p.L1717S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001124:92001124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1207G>A
AA Mutation p.Glu403Lys(p.E403K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001457:92001457(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1540G>A
AA Mutation p.Glu514Lys(p.E514K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92000946:92000946(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1029G>T
AA Mutation p.Lys343Asn(p.K343N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001370:92001370(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1453G>A
AA Mutation p.Glu485Lys(p.E485K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92012459:92012459(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3349C>T
AA Mutation p.Arg1117Cys(p.R1117C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92097208:92097208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146495719
CDS Mutation c.10249C>T
AA Mutation p.Arg3417Cys(p.R3417C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92107299:92107299(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11423A>G
AA Mutation p.Glu3808Gly(p.E3808G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92097209:92097209(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770556341
CDS Mutation c.10250G>A
AA Mutation p.Arg3417His(p.R3417H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92003186:92003186(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3269G>A
AA Mutation p.Ser1090Asn(p.S1090N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92083393:92083393(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8384C>T
AA Mutation p.Pro2795Leu(p.P2795L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92002113:92002113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2196A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92077836:92077836(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746485312
CDS Mutation c.6906G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92061277:92061277(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5619G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92108557:92108557(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757753258
CDS Mutation c.11610C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 91973830:91973830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.168T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92083547:92083547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8538T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92001159:92001159(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200250245
CDS Mutation c.1242C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92042700:92042700(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5091A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92062278:92062278(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5769C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92070964:92070964(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777969491
CDS Mutation c.6567A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92002146:92002146(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2229A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92052943:92052943(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5586T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 92062328:92062328(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5824delA
AA Mutation p.Thr1942LeufsTer3(p.T1942Lfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 91973771:91973771(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.116delA
AA Mutation p.Lys39ArgfsTer17(p.K39Rfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 92014319:92014319(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3608delT
AA Mutation p.Leu1203TyrfsTer16(p.L1203Yfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92102630:92102630(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11134C>T
AA Mutation p.Arg3712Ter(p.R3712*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92097262:92097262(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10303C>T
AA Mutation p.Arg3435Ter(p.R3435*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92052902:92052902(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5545C>T
AA Mutation p.Arg1849Ter(p.R1849*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92040839:92040839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4858C>T
AA Mutation p.Arg1620Ter(p.R1620*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92001862:92001862(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779398715
CDS Mutation c.1945C>T
AA Mutation p.Arg649Ter(p.R649*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92000998:92000998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1081G>T
AA Mutation p.Glu361Ter(p.E361*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92038666:92038666(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4586T>G
AA Mutation p.Leu1529Ter(p.L1529*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92022978:92022978(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4117C>T
AA Mutation p.Gln1373Ter(p.Q1373*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 91973770:91973771(version: GRCh38)
Mutation Type INS
dbSNP_RS rs765201611
CDS Mutation c.116dupA
AA Mutation p.Arg40GlufsTer7(p.R40Efs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 92089389:92089390(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.9220_9245dupGAATATCAAGCAGCTATGGAATGCCT
AA Mutation p.Gln3083AsnfsTer28(p.Q3083Nfs*28)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 63
Mutation Consequence protein_altering_variant
Transcription ID ENST00000356239
Start 92001901:92001902(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1984_1985insTGTCTA
AA Mutation p.His662delinsLeuSerAsn(p.H662delinsLSN)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> AKAP9

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92001179:92001179(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1262G>A
AA Mutation p.Arg421Gln(p.R421Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92110146:92110146(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11711G>C
AA Mutation p.Gly3904Ala(p.G3904A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002315:92002315(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2398G>A
AA Mutation p.Glu800Lys(p.E800K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92002484:92002484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2567A>G
AA Mutation p.Asn856Ser(p.N856S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92077834:92077834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6904A>G
AA Mutation p.Thr2302Ala(p.T2302A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92095098:92095098(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9654A>T
AA Mutation p.Arg3218Ser(p.R3218S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 91973916:91973916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.254G>T
AA Mutation p.Arg85Ile(p.R85I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92097631:92097631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10444C>A
AA Mutation p.Leu3482Ile(p.L3482I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92096987:92096987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10028A>G
AA Mutation p.Asp3343Gly(p.D3343G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000356239
Start 92016231:92016231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758832151
CDS Mutation c.3715G>T
AA Mutation p.Asp1239Tyr(p.D1239Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92038661:92038661(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4581A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92002908:92002908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2991A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92080089:92080089(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7956C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92001159:92001159(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200250245
CDS Mutation c.1242C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000356239
Start 92012479:92012479(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3369T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence frameshift_variant
Transcription ID ENST00000356239
Start 91973771:91973771(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.116delA
AA Mutation p.Lys39ArgfsTer17(p.K39Rfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 17
Mutation Consequence stop_gained
Transcription ID ENST00000356239
Start 92002084:92002084(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2167G>T
AA Mutation p.Glu723Ter(p.E723*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript