Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ITPR2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26716208:26716208(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.560T>C
AA Mutation p.Val187Ala(p.V187A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26340247:26340247(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7939C>T
AA Mutation p.Arg2647Trp(p.R2647W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26494159:26494159(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5364A>C
AA Mutation p.Gln1788His(p.Q1788H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26561944:26561944(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773730966
CDS Mutation c.4639C>T
AA Mutation p.Arg1547Cys(p.R1547C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26681902:26681902(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1381A>C
AA Mutation p.Asn461His(p.N461H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26486122:26486122(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5793T>A
AA Mutation p.Asn1931Lys(p.N1931K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26682588:26682588(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1234C>T
AA Mutation p.Pro412Ser(p.P412S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26659191:26659191(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1808G>T
AA Mutation p.Arg603Ile(p.R603I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26427975:26427975(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6883A>T
AA Mutation p.Met2295Leu(p.M2295L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26486166:26486166(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5749A>G
AA Mutation p.Ile1917Val(p.I1917V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26596897:26596897(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4240G>A
AA Mutation p.Asp1414Asn(p.D1414N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26656454:26656454(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2287C>T
AA Mutation p.Arg763Trp(p.R763W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26483804:26483804(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5906G>A
AA Mutation p.Gly1969Asp(p.G1969D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26439271:26439271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6499A>G
AA Mutation p.Asn2167Asp(p.N2167D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26387520:26387520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7771C>T
AA Mutation p.His2591Tyr(p.H2591Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26419132:26419132(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7027G>T
AA Mutation p.Asp2343Tyr(p.D2343Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26622325:26622325(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3203A>G
AA Mutation p.Asp1068Gly(p.D1068G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26631927:26631927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2873C>A
AA Mutation p.Pro958His(p.P958H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26339467:26339467(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8036A>C
AA Mutation p.Lys2679Thr(p.K2679T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26486353:26486353(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5562T>G
AA Mutation p.Asp1854Glu(p.D1854E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26621154:26621154(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3431G>A
AA Mutation p.Ser1144Asn(p.S1144N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26715391:26715391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.763G>A
AA Mutation p.Glu255Lys(p.E255K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26722456:26722456(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.466A>C
AA Mutation p.Asn156His(p.N156H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26654110:26654110(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755838267
CDS Mutation c.2606G>A
AA Mutation p.Arg869Gln(p.R869Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26715765:26715765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.695A>G
AA Mutation p.Asp232Gly(p.D232G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26486144:26486144(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5771T>G
AA Mutation p.Phe1924Cys(p.F1924C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26556358:26556358(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4839G>T
AA Mutation p.Leu1613Phe(p.L1613F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26621157:26621157(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3428A>G
AA Mutation p.Glu1143Gly(p.E1143G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26658111:26658111(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1906G>T
AA Mutation p.Asp636Tyr(p.D636Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26722480:26722480(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.442C>T
AA Mutation p.Arg148Cys(p.R148C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26556247:26556247(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs552541041
CDS Mutation c.4950C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26621129:26621129(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3456A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26656440:26656440(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2301T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26428042:26428042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766076424
CDS Mutation c.6816G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26578735:26578735(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4608T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26400224:26400224(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7434G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26656443:26656443(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs745841899
CDS Mutation c.2298G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26596973:26596973(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4164delG
AA Mutation p.Asn1390MetfsTer17(p.N1390Mfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 39
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26487113:26487113(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5509delA
AA Mutation p.Arg1837GlyfsTer7(p.R1837Gfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26487217:26487217(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5405delA
AA Mutation p.Lys1802SerfsTer13(p.K1802Sfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26666048:26666048(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1413delT
AA Mutation p.Phe471LeufsTer2(p.F471Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26622401:26622401(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3127G>T
AA Mutation p.Glu1043Ter(p.E1043*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26550282:26550282(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5038G>T
AA Mutation p.Glu1680Ter(p.E1680*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26663816:26663816(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1582G>T
AA Mutation p.Glu528Ter(p.E528*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26602387:26602387(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3661C>T
AA Mutation p.Gln1221Ter(p.Q1221*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26657817:26657817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2082G>A
AA Mutation p.Trp694Ter(p.W694*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26681965:26681965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1318C>T
AA Mutation p.Arg440Ter(p.R440*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26495230:26495230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764915097
CDS Mutation c.5104C>T
AA Mutation p.Arg1702Ter(p.R1702*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26476917:26476917(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6214G>T
AA Mutation p.Glu2072Ter(p.E2072*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000381340
Start 26419104:26419105(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7054_7055insCCTAA
AA Mutation p.Tyr2352SerfsTer2(p.Y2352Sfs*2)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26655723:26655724(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2573dupA
AA Mutation p.Asn858LysfsTer2(p.N858Kfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26599208:26599209(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3938dupT
AA Mutation p.Leu1313PhefsTer10(p.L1313Ffs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26487112:26487113(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5509dupA
AA Mutation p.Arg1837LysfsTer4(p.R1837Kfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26715376:26715377(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.777dupA
AA Mutation p.Gln260ThrfsTer18(p.Q260Tfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26658110:26658111(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1906_1907insCCATT
AA Mutation p.Asp636AlafsTer14(p.D636Afs*14)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000381340
Start 26666026:26666027(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1434_1435insTTTGTTCC
AA Mutation p.Leu479PhefsTer33(p.L479Ffs*33)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000381340
Start 26600110:26600110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3679-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 58
Mutation Consequence protein_altering_variant
Transcription ID ENST00000381340
Start 26682653:26682654(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1168_1169insTCCTATTCTCAT
AA Mutation p.Arg390delinsIleLeuPheSerTrp(p.R390delinsILFSW)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ITPR2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26665986:26665986(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1475A>G
AA Mutation p.Glu492Gly(p.E492G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26556236:26556236(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779196818
CDS Mutation c.4961C>T
AA Mutation p.Ser1654Leu(p.S1654L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26427996:26427996(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61751236
CDS Mutation c.6862C>T
AA Mutation p.Arg2288Trp(p.R2288W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26487082:26487082(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5540G>C
AA Mutation p.Gly1847Ala(p.G1847A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26483762:26483762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5948C>T
AA Mutation p.Ala1983Val(p.A1983V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26725659:26725659(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.270G>T
AA Mutation p.Lys90Asn(p.K90N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26596936:26596936(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4201C>A
AA Mutation p.Leu1401Ile(p.L1401I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26622377:26622377(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772387642
CDS Mutation c.3151G>A
AA Mutation p.Asp1051Asn(p.D1051N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26659123:26659123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs566154914
CDS Mutation c.1876C>T
AA Mutation p.Arg626Trp(p.R626W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26428043:26428043(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754109103
CDS Mutation c.6815C>T
AA Mutation p.Ala2272Val(p.A2272V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000381340
Start 26715410:26715410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.744G>T
AA Mutation p.Glu248Asp(p.E248D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26681885:26681885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1398G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000381340
Start 26487081:26487081(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5541T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26658069:26658069(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1948G>T
AA Mutation p.Glu650Ter(p.E650*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26495230:26495230(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764915097
CDS Mutation c.5104C>T
AA Mutation p.Arg1702Ter(p.R1702*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000381340
Start 26595527:26595527(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4318G>T
AA Mutation p.Glu1440Ter(p.E1440*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000381340
Start 26602496:26602496(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3553-1G>T
Mutation Classification Splice_Site
Feature Type Transcript