Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KMT2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472601:118472601(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1442G>A
AA Mutation p.Ser481Asn(p.S481N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472760:118472760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1601C>T
AA Mutation p.Ser534Leu(p.S534L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118476828:118476828(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782157422
CDS Mutation c.3180G>T
AA Mutation p.Glu1060Asp(p.E1060D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118498503:118498503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782785673
CDS Mutation c.5927G>A
AA Mutation p.Arg1976Gln(p.R1976Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118506243:118506243(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139366882
CDS Mutation c.10342G>A
AA Mutation p.Glu3448Lys(p.E3448K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118506628:118506628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10727C>T
AA Mutation p.Ser3576Phe(p.S3576F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118511990:118511990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11102G>A
AA Mutation p.Arg3701Gln(p.R3701Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472217:118472217(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1058G>A
AA Mutation p.Arg353Gln(p.R353Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118503053:118503053(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7152T>A
AA Mutation p.Asp2384Glu(p.D2384E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472334:118472334(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1175C>T
AA Mutation p.Ala392Val(p.A392V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118522162:118522162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11900T>A
AA Mutation p.Phe3967Tyr(p.F3967Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505764:118505764(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9863G>T
AA Mutation p.Arg3288Ile(p.R3288I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505968:118505968(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149340870
CDS Mutation c.10067C>T
AA Mutation p.Ala3356Val(p.A3356V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118520837:118520837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11456G>A
AA Mutation p.Arg3819His(p.R3819H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118496333:118496333(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782094920
CDS Mutation c.5621C>T
AA Mutation p.Ala1874Val(p.A1874V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118481879:118481879(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376303494
CDS Mutation c.3799G>A
AA Mutation p.Val1267Ile(p.V1267I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118478092:118478092(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3460C>T
AA Mutation p.Arg1154Trp(p.R1154W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118494704:118494704(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5291G>A
AA Mutation p.Arg1764His(p.R1764H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118521970:118521970(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11708G>A
AA Mutation p.Arg3903His(p.R3903H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118490231:118490231(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4678G>A
AA Mutation p.Ala1560Thr(p.A1560T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118488681:118488681(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4400T>C
AA Mutation p.Leu1467Pro(p.L1467P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118503345:118503345(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7444G>A
AA Mutation p.Val2482Ile(p.V2482I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118472402:118472402(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1243A>G
AA Mutation p.Ser415Gly(p.S415G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505355:118505355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9454G>A
AA Mutation p.Gly3152Arg(p.G3152R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118522056:118522056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11794C>T
AA Mutation p.Arg3932Cys(p.R3932C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505156:118505156(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9255G>A
AA Mutation p.Met3085Ile(p.M3085I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118473198:118473198(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2039C>T
AA Mutation p.Ser680Leu(p.S680L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118490147:118490147(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781990391
CDS Mutation c.4594C>T
AA Mutation p.Arg1532Cys(p.R1532C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505202:118505202(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9301A>C
AA Mutation p.Lys3101Gln(p.K3101Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118504719:118504719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8818A>G
AA Mutation p.Thr2940Ala(p.T2940A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118502562:118502562(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6661A>G
AA Mutation p.Arg2221Gly(p.R2221G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118504042:118504042(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8141T>G
AA Mutation p.Ile2714Ser(p.I2714S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118507600:118507600(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10817A>G
AA Mutation p.Gln3606Arg(p.Q3606R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118501072:118501072(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6235G>A
AA Mutation p.Val2079Ile(p.V2079I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118436804:118436804(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.292T>C
AA Mutation p.Ser98Pro(p.S98P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118502945:118502945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780538462
CDS Mutation c.7044C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118503890:118503890(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782199290
CDS Mutation c.7989A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118472521:118472521(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1362G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118502951:118502951(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7050C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118506101:118506101(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs9332843
CDS Mutation c.10200G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118484870:118484870(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4227T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118521360:118521360(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200576371
CDS Mutation c.11577C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118498016:118498016(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5736A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118506167:118506167(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782505642
CDS Mutation c.10266G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118522142:118522142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201724179
CDS Mutation c.11880C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118436830:118436830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.318C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118472302:118472302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1143G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118494727:118494727(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5318delA
AA Mutation p.Lys1773SerfsTer47(p.K1773Sfs*47)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118498386:118498386(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5813delA
AA Mutation p.Lys1938SerfsTer43(p.K1938Sfs*43)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118505488:118505488(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9590delT
AA Mutation p.Leu3197TrpfsTer15(p.L3197Wfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118472814:118472814(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1660delC
AA Mutation p.Gln554SerfsTer13(p.Q554Sfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118482028:118482028(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3951delA
AA Mutation p.Glu1318LysfsTer38(p.E1318Kfs*38)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 53
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118505200:118505200(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9304delA
AA Mutation p.Ile3102SerfsTer3(p.I3102Sfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 54
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118473471:118473471(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2318delC
AA Mutation p.Pro773ArgfsTer8(p.P773Rfs*8)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 55
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118476838:118476838(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3190C>T
AA Mutation p.Arg1064Ter(p.R1064*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 56
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118473392:118473392(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs727503777
CDS Mutation c.2233C>T
AA Mutation p.Arg745Ter(p.R745*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 57
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118502463:118502463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6562C>T
AA Mutation p.Arg2188Ter(p.R2188*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 58
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118503987:118503987(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587783680
CDS Mutation c.8086C>T
AA Mutation p.Arg2696Ter(p.R2696*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 59
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118473743:118473743(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2584C>T
AA Mutation p.Arg862Ter(p.R862*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118472308:118472309(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1149_1150insTTTC
AA Mutation p.Gln384PhefsTer6(p.Q384Ffs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000389506
Start 118481943:118481944(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3863_3864insGT
AA Mutation p.Pro1289PhefsTer68(p.P1289Ffs*68)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 62
Mutation Consequence inframe_insertion
Transcription ID ENST00000389506
Start 118491900:118491901(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4967_4968insATCTCA
AA Mutation p.Thr1656_Thr1657insSerHis(p.T1656_T1657insSH)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> KMT2A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118506324:118506324(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10423G>C
AA Mutation p.Ala3475Pro(p.A3475P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118521371:118521371(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11588T>G
AA Mutation p.Ile3863Ser(p.I3863S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505787:118505787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9886T>C
AA Mutation p.Phe3296Leu(p.F3296L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118473366:118473366(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2207G>T
AA Mutation p.Arg736Met(p.R736M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118505185:118505185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9284C>A
AA Mutation p.Pro3095Gln(p.P3095Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000389506
Start 118506028:118506028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10127G>A
AA Mutation p.Gly3376Asp(p.G3376D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118472788:118472788(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs782236871
CDS Mutation c.1629G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118505954:118505954(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10053C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118473175:118473175(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368516174
CDS Mutation c.2016C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118472500:118472500(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs542752721
CDS Mutation c.1341G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000389506
Start 118502639:118502639(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6738C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000389506
Start 118488695:118488695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4414G>T
AA Mutation p.Glu1472Ter(p.E1472*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript