Primary Site >> Stomach Cancer

Gene >> GLI3

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42076810:42076810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.415G>A
AA Mutation p.Ala139Thr(p.A139T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966278:41966278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2795A>C
AA Mutation p.Lys932Thr(p.K932T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965447:41965447(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3626C>A
AA Mutation p.Pro1209His(p.P1209H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966594:41966594(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2479C>A
AA Mutation p.Leu827Ile(p.L827I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966254:41966254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2819C>T
AA Mutation p.Pro940Leu(p.P940L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42045468:42045468(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.742C>T
AA Mutation p.Arg248Cys(p.R248C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972570:41972570(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1870C>A
AA Mutation p.Leu624Ile(p.L624I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42023503:42023503(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756581886
CDS Mutation c.1462G>A
AA Mutation p.Ala488Thr(p.A488T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965174:41965174(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751790458
CDS Mutation c.3899C>T
AA Mutation p.Ala1300Val(p.A1300V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965513:41965513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3560A>G
AA Mutation p.Gln1187Arg(p.Q1187R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42023550:42023550(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1415A>G
AA Mutation p.Gln472Arg(p.Q472R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965396:41965396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3677C>A
AA Mutation p.Pro1226Gln(p.P1226Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42148279:42148279(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750890677
CDS Mutation c.314G>A
AA Mutation p.Arg105His(p.R105H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966083:41966083(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2990C>T
AA Mutation p.Ala997Val(p.A997V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42148280:42148280(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs555794809
CDS Mutation c.313C>T
AA Mutation p.Arg105Cys(p.R105C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964347:41964347(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4726C>A
AA Mutation p.Leu1576Ile(p.L1576I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966587:41966587(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2486G>A
AA Mutation p.Gly829Asp(p.G829D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972482:41972482(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141220299
CDS Mutation c.1958C>T
AA Mutation p.Pro653Leu(p.P653L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967886:41967886(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2141G>T
AA Mutation p.Ser714Ile(p.S714I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965576:41965576(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3497G>T
AA Mutation p.Ser1166Ile(p.S1166I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972542:41972542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1898G>T
AA Mutation p.Gly633Val(p.G633V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964382:41964382(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4691C>A
AA Mutation p.Ser1564Tyr(p.S1564Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965784:41965784(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3289G>T
AA Mutation p.Val1097Leu(p.V1097L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42048646:42048646(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.524G>A
AA Mutation p.Arg175Lys(p.R175K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966359:41966359(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2714G>A
AA Mutation p.Arg905His(p.R905H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964898:41964898(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773316349
CDS Mutation c.4175G>A
AA Mutation p.Ser1392Asn(p.S1392N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964463:41964463(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746798261
CDS Mutation c.4610G>A
AA Mutation p.Arg1537His(p.R1537H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964760:41964760(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4313A>C
AA Mutation p.Asn1438Thr(p.N1438T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967907:41967907(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2120C>G
AA Mutation p.Pro707Arg(p.P707R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967908:41967908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2119C>A
AA Mutation p.Pro707Thr(p.P707T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42023496:42023496(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1469A>G
AA Mutation p.Glu490Gly(p.E490G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42026228:42026228(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1213G>A
AA Mutation p.Val405Ile(p.V405I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965516:41965516(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs541487979
CDS Mutation c.3557C>T
AA Mutation p.Pro1186Leu(p.P1186L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42076809:42076809(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.416C>A
AA Mutation p.Ala139Asp(p.A139D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964653:41964653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370009188
CDS Mutation c.4420G>A
AA Mutation p.Ala1474Thr(p.A1474T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966363:41966363(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2710C>T
AA Mutation p.Arg904Cys(p.R904C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965888:41965888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3185C>T
AA Mutation p.Ser1062Leu(p.S1062L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972357:41972357(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199606102
CDS Mutation c.2083G>A
AA Mutation p.Val695Ile(p.V695I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965966:41965966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774552566
CDS Mutation c.3107C>T
AA Mutation p.Ala1036Val(p.A1036V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42048664:42048664(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.506C>T
AA Mutation p.Pro169Leu(p.P169L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42045464:42045464(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.746G>A
AA Mutation p.Ser249Asn(p.S249N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965522:41965522(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3551C>T
AA Mutation p.Ala1184Val(p.A1184V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966008:41966008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3065C>T
AA Mutation p.Pro1022Leu(p.P1022L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42025302:42025302(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145479568
CDS Mutation c.1318G>A
AA Mutation p.Asp440Asn(p.D440N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965940:41965940(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3133G>A
AA Mutation p.Val1045Met(p.V1045M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966408:41966408(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2665G>A
AA Mutation p.Val889Met(p.V889M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42076770:42076770(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs778060205
CDS Mutation c.455C>T
AA Mutation p.Pro152Leu(p.P152L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966209:41966209(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2864C>T
AA Mutation p.Thr955Met(p.T955M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966590:41966590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2483C>T
AA Mutation p.Pro828Leu(p.P828L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964704:41964704(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4369G>C
AA Mutation p.Ala1457Pro(p.A1457P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41966273:41966273(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2800G>A
AA Mutation p.Ala934Thr(p.A934T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41964897:41964897(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4176C>A
AA Mutation p.Ser1392Arg(p.S1392R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965787:41965787(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762642157
CDS Mutation c.3286G>A
AA Mutation p.Val1096Met(p.V1096M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41967911:41967911(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2116A>T
AA Mutation p.Ser706Cys(p.S706C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41965957:41965957(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3116C>T
AA Mutation p.Ala1039Val(p.A1039V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 56
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 41972482:41972482(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1958C>A
AA Mutation p.Pro653Gln(p.P653Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 57
Mutation Consequence missense_variant
Transcription ID ENST00000395925
Start 42045422:42045422(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761232350
CDS Mutation c.788C>T
AA Mutation p.Thr263Met(p.T263M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965653:41965653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3420C>A
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965971:41965971(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3102G>A
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41967846:41967846(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs535443608
CDS Mutation c.2181G>A
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965887:41965887(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747635516
CDS Mutation c.3186G>A
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41967810:41967810(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2217A>G
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965683:41965683(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756608797
CDS Mutation c.3390C>T
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41964555:41964555(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377186629
CDS Mutation c.4518C>T
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965116:41965116(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768300131
CDS Mutation c.3957A>G
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41978707:41978707(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs142888674
CDS Mutation c.1539C>T
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965266:41965266(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3807C>T
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41965425:41965425(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199638498
CDS Mutation c.3648C>T
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966166:41966166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2907C>A
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966400:41966400(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2673G>A
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42076808:42076808(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.417C>G
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966505:41966505(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2568G>A
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966007:41966007(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3066G>A
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42045490:42045490(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.720G>A
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966403:41966403(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2670C>T
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 42023504:42023504(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1461C>T
Mutation Classification Silent
Feature Type Transcript
ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000395925
Start 41966337:41966337(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752024375
CDS Mutation c.2736C>T
Mutation Classification Silent
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000395925
Start 41965318:41965318(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3755delC
AA Mutation p.Pro1252ArgfsTer30(p.P1252Rfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000395925
Start 41965975:41965975(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3098delC
AA Mutation p.Pro1033ArgfsTer46(p.P1033Rfs*46)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000395925
Start 42025270:42025270(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1350delG
AA Mutation p.Gln451SerfsTer51(p.Q451Sfs*51)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 81
Mutation Consequence stop_gained
Transcription ID ENST00000395925
Start 41965018:41965018(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4055C>A
AA Mutation p.Ser1352Ter(p.S1352*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000395925
Start 42223208:42223209(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.45dupA
AA Mutation p.Val16SerfsTer2(p.V16Sfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript