Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SCN7A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166444901:166444901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1487A>G
AA Mutation p.Glu496Gly(p.E496G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166421288:166421288(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3037C>A
AA Mutation p.Leu1013Ile(p.L1013I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432566:166432566(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2344A>C
AA Mutation p.Asn782His(p.N782H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166477572:166477572(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.125C>A
AA Mutation p.Pro42His(p.P42H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166405701:166405701(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34589606
CDS Mutation c.4928G>A
AA Mutation p.Arg1643Gln(p.R1643Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432739:166432739(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2171T>G
AA Mutation p.Phe724Cys(p.F724C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000409855
Start 166462528:166462528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.944A>T
AA Mutation p.Gln315Leu(p.Q315L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166456980:166456980(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1180G>A
AA Mutation p.Ala394Thr(p.A394T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166405903:166405903(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372024247
CDS Mutation c.4726G>A
AA Mutation p.Asp1576Asn(p.D1576N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432501:166432501(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2409T>A
AA Mutation p.Asp803Glu(p.D803E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166405616:166405616(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5013A>C
AA Mutation p.Lys1671Asn(p.K1671N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166473845:166473845(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141810453
CDS Mutation c.397G>A
AA Mutation p.Val133Ile(p.V133I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166406409:166406409(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4220A>C
AA Mutation p.Lys1407Thr(p.K1407T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432542:166432542(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2368A>T
AA Mutation p.Ile790Phe(p.I790F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166441626:166441626(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1927G>A
AA Mutation p.Ala643Thr(p.A643T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166465873:166465873(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.779T>C
AA Mutation p.Met260Thr(p.M260T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166427931:166427931(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs34324751
CDS Mutation c.2710G>A
AA Mutation p.Gly904Arg(p.G904R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166423305:166423305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372297374
CDS Mutation c.2981C>A
AA Mutation p.Ala994Asp(p.A994D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166423391:166423391(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2895A>C
AA Mutation p.Lys965Asn(p.K965N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432503:166432503(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2407G>T
AA Mutation p.Asp803Tyr(p.D803Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166441500:166441500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2053C>A
AA Mutation p.Leu685Ile(p.L685I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166465807:166465807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.845G>T
AA Mutation p.Arg282Ile(p.R282I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166465521:166465521(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs762095367
CDS Mutation c.882C>G
AA Mutation p.Asn294Lys(p.N294K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166416853:166416853(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3268C>G
AA Mutation p.Pro1090Ala(p.P1090A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432386:166432386(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2524G>A
AA Mutation p.Glu842Lys(p.E842K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166441736:166441736(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1817T>C
AA Mutation p.Leu606Ser(p.L606S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166470653:166470653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750200559
CDS Mutation c.626G>T
AA Mutation p.Arg209Ile(p.R209I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166441649:166441649(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1904T>C
AA Mutation p.Phe635Ser(p.F635S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166406196:166406196(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4433G>C
AA Mutation p.Ser1478Thr(p.S1478T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166409771:166409771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3876G>T
AA Mutation p.Met1292Ile(p.M1292I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166427933:166427933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs559936352
CDS Mutation c.2708G>A
AA Mutation p.Arg903His(p.R903H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166406443:166406443(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764396163
CDS Mutation c.4186G>A
AA Mutation p.Val1396Ile(p.V1396I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166416841:166416841(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3280G>A
AA Mutation p.Glu1094Lys(p.E1094K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166444839:166444839(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1549T>G
AA Mutation p.Leu517Val(p.L517V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166444865:166444865(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1523A>C
AA Mutation p.Asp508Ala(p.D508A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166477550:166477550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.147G>T
AA Mutation p.Lys49Asn(p.K49N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166432430:166432430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2480T>C
AA Mutation p.Ile827Thr(p.I827T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166470678:166470678(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.601T>G
AA Mutation p.Phe201Val(p.F201V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166406575:166406575(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201648326
CDS Mutation c.4054C>T
AA Mutation p.Arg1352Trp(p.R1352W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166409708:166409708(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs35864629
CDS Mutation c.3939G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 41
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166441642:166441642(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1911C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 42
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166427863:166427863(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2778C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166427932:166427932(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773110152
CDS Mutation c.2709C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166444957:166444957(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1431G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166409681:166409681(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3966T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166472361:166472361(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199888711
CDS Mutation c.528C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166416782:166416782(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144458511
CDS Mutation c.3339C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166477628:166477628(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.69G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166406206:166406206(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4423delT
AA Mutation p.Tyr1475IlefsTer11(p.Y1475Ifs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 50
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166473883:166473883(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.359delT
AA Mutation p.Phe120SerfsTer6(p.F120Sfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 51
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166457038:166457038(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1122delT
AA Mutation p.Phe374LeufsTer4(p.F374Lfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 52
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166429255:166429255(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2612C>A
AA Mutation p.Ser871Ter(p.S871*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 53
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166405765:166405765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571278405
CDS Mutation c.4864C>T
AA Mutation p.Arg1622Ter(p.R1622*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 54
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166443652:166443652(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1651G>T
AA Mutation p.Glu551Ter(p.E551*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000409855
Start 166477463:166477464(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.233dupA
AA Mutation p.Asn78LysfsTer8(p.N78Kfs*8)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166465910:166465911(version: GRCh38)
Mutation Type INS
dbSNP_RS rs769551067
CDS Mutation c.741dupT
AA Mutation p.Leu248SerfsTer19(p.L248Sfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166423411:166423412(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2874_2875insTT
AA Mutation p.Asp959LeufsTer11(p.D959Lfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 58
Mutation Consequence protein_altering_variant
Transcription ID ENST00000409855
Start 166409814:166409815(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3832_3833insCTGTGATGGAGAAAATAACCACCATAAAATCAA
AA Mutation p.Gln1278delinsProValMetGluLysIleThrThrIleLysSerLys(p.Q1278delinsPVMEKITTIKSK)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> SCN7A

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166457034:166457034(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1126G>T
AA Mutation p.Val376Leu(p.V376L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166444968:166444968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1420T>C
AA Mutation p.Tyr474His(p.Y474H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166456937:166456937(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1223C>A
AA Mutation p.Ser408Tyr(p.S408Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166465525:166465525(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.878A>C
AA Mutation p.Glu293Ala(p.E293A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166462402:166462402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1070T>A
AA Mutation p.Val357Glu(p.V357E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166406350:166406350(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4279C>A
AA Mutation p.Leu1427Ile(p.L1427I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166477472:166477472(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.225G>T
AA Mutation p.Lys75Asn(p.K75N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166409929:166409929(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3718C>A
AA Mutation p.Leu1240Ile(p.L1240I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166427834:166427834(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2807T>G
AA Mutation p.Phe936Cys(p.F936C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000409855
Start 166474314:166474314(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.265A>G
AA Mutation p.Ile89Val(p.I89V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000409855
Start 166405709:166405709(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4920C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166465847:166465847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768676762
CDS Mutation c.805C>T
AA Mutation p.Arg269Ter(p.R269*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166432563:166432563(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2347G>T
AA Mutation p.Glu783Ter(p.E783*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000409855
Start 166465526:166465526(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.877G>T
AA Mutation p.Glu293Ter(p.E293*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000409855
Start 166465910:166465911(version: GRCh38)
Mutation Type INS
dbSNP_RS rs769551067
CDS Mutation c.741dupT
AA Mutation p.Leu248SerfsTer19(p.L248Sfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript