Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SPAG17

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118054068:118054068(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2748G>T
AA Mutation p.Glu916Asp(p.E916D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118093240:118093240(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1089G>T
AA Mutation p.Gln363His(p.Q363H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118097810:118097810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.871G>C
AA Mutation p.Glu291Gln(p.E291Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117973469:117973469(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6097C>A
AA Mutation p.His2033Asn(p.H2033N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118039301:118039301(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3310C>A
AA Mutation p.Leu1104Ile(p.L1104I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118008117:118008117(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4514G>C
AA Mutation p.Cys1505Ser(p.C1505S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118042002:118042002(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200995274
CDS Mutation c.2855G>A
AA Mutation p.Arg952His(p.R952H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118025326:118025326(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756839531
CDS Mutation c.3821C>T
AA Mutation p.Thr1274Met(p.T1274M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117963819:117963819(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201492235
CDS Mutation c.6652C>T
AA Mutation p.Arg2218Cys(p.R2218C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118028284:118028284(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747481141
CDS Mutation c.3720A>C
AA Mutation p.Gln1240His(p.Q1240H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117983825:117983825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5858C>T
AA Mutation p.Ser1953Phe(p.S1953F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118008142:118008142(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139932174
CDS Mutation c.4489C>T
AA Mutation p.Arg1497Cys(p.R1497C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117994507:117994507(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369196266
CDS Mutation c.5077C>T
AA Mutation p.Arg1693Cys(p.R1693C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117988162:117988162(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201394490
CDS Mutation c.5564C>T
AA Mutation p.Thr1855Met(p.T1855M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117996662:117996662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4858G>T
AA Mutation p.Asp1620Tyr(p.D1620Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118005464:118005464(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4726A>G
AA Mutation p.Thr1576Ala(p.T1576A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118036867:118036867(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781204564
CDS Mutation c.3336G>T
AA Mutation p.Lys1112Asn(p.K1112N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118039385:118039385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3226A>C
AA Mutation p.Asn1076His(p.N1076H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118041987:118041987(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2870A>C
AA Mutation p.Lys957Thr(p.K957T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118054047:118054047(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2769A>C
AA Mutation p.Glu923Asp(p.E923D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118055823:118055823(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771554280
CDS Mutation c.2632A>G
AA Mutation p.Ile878Val(p.I878V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118041905:118041905(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2952G>T
AA Mutation p.Lys984Asn(p.K984N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118185114:118185114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751883629
CDS Mutation c.44C>A
AA Mutation p.Ser15Tyr(p.S15Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118041879:118041879(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2978C>A
AA Mutation p.Ser993Tyr(p.S993Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117963906:117963906(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6565C>T
AA Mutation p.Pro2189Ser(p.P2189S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118073907:118073907(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2332A>G
AA Mutation p.Ser778Gly(p.S778G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117994466:117994466(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5118A>C
AA Mutation p.Glu1706Asp(p.E1706D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118115434:118115434(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs560266851
CDS Mutation c.323C>T
AA Mutation p.Thr108Met(p.T108M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117994491:117994491(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5093C>A
AA Mutation p.Ala1698Glu(p.A1698E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118066769:118066769(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2516C>T
AA Mutation p.Ala839Val(p.A839V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 117994502:117994502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5082T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118008125:118008125(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201804334
CDS Mutation c.4506C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 33
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 117988161:117988161(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150806134
CDS Mutation c.5565G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 34
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118005558:118005558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4632T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 35
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118040836:118040836(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201385376
CDS Mutation c.3060C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 36
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118091937:118091937(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1239A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 37
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118086695:118086695(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770618667
CDS Mutation c.1587C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 38
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118081539:118081539(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1866G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 39
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 118016022:118016022(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4230A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 40
Mutation Consequence frameshift_variant
Transcription ID ENST00000336338
Start 118025357:118025357(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3790delC
AA Mutation p.Gln1264ArgfsTer3(p.Q1264Rfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 41
Mutation Consequence frameshift_variant
Transcription ID ENST00000336338
Start 117992642:117992642(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5185delA
AA Mutation p.Thr1729LeufsTer21(p.T1729Lfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 42
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 117996415:117996415(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5008G>T
AA Mutation p.Glu1670Ter(p.E1670*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118055862:118055862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2593G>T
AA Mutation p.Glu865Ter(p.E865*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118081463:118081463(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1942C>T
AA Mutation p.Gln648Ter(p.Q648*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118005516:118005516(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4674T>A
AA Mutation p.Tyr1558Ter(p.Y1558*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118115378:118115378(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.379A>T
AA Mutation p.Lys127Ter(p.K127*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118091656:118091656(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1309C>T
AA Mutation p.Arg437Ter(p.R437*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118074544:118074544(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2266G>T
AA Mutation p.Glu756Ter(p.E756*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence frameshift_variant
Transcription ID ENST00000336338
Start 117996698:117996699(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4821dupA
AA Mutation p.Leu1608IlefsTer4(p.L1608Ifs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 50
Mutation Consequence splice_donor_variant
Transcription ID ENST00000336338
Start 118055732:118055732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2722+1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 51
Mutation Consequence inframe_deletion
Transcription ID ENST00000336338
Start 118099615:118099617(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs747449705
CDS Mutation c.818_820delTTC
AA Mutation p.Leu273del(p.L273del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> SPAG17

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117981278:117981278(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768738068
CDS Mutation c.5996C>T
AA Mutation p.Ser1999Phe(p.S1999F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117984751:117984751(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5701A>G
AA Mutation p.Met1901Val(p.M1901V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117988113:117988113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5613G>T
AA Mutation p.Lys1871Asn(p.K1871N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118016023:118016023(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4229G>T
AA Mutation p.Arg1410Ile(p.R1410I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118091967:118091967(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1209G>T
AA Mutation p.Lys403Asn(p.K403N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118086969:118086969(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139343615
CDS Mutation c.1399C>T
AA Mutation p.Arg467Trp(p.R467W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118015996:118015996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4256C>A
AA Mutation p.Ser1419Tyr(p.S1419Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117966621:117966621(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6520C>A
AA Mutation p.Pro2174Thr(p.P2174T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117981278:117981278(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5996C>A
AA Mutation p.Ser1999Tyr(p.S1999Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 117987848:117987848(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5655G>T
AA Mutation p.Lys1885Asn(p.K1885N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118016015:118016015(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4237G>T
AA Mutation p.Asp1413Tyr(p.D1413Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118028359:118028359(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3645G>C
AA Mutation p.Glu1215Asp(p.E1215D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000336338
Start 118008196:118008196(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371232612
CDS Mutation c.4435G>A
AA Mutation p.Glu1479Lys(p.E1479K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118023460:118023460(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3913C>A
AA Mutation p.Leu1305Ile(p.L1305I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118036805:118036805(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752984592
CDS Mutation c.3398C>T
AA Mutation p.Ser1133Leu(p.S1133L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118042020:118042020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2837G>A
AA Mutation p.Arg946Gln(p.R946Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118097813:118097813(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.868A>C
AA Mutation p.Lys290Gln(p.K290Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000336338
Start 118151272:118151272(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.185G>A
AA Mutation p.Arg62His(p.R62H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000336338
Start 117992616:117992616(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5211G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000336338
Start 118150576:118150576(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.282delA
AA Mutation p.Lys94AsnfsTer3(p.K94Nfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118042021:118042021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201253941
CDS Mutation c.2836C>T
AA Mutation p.Arg946Ter(p.R946*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence stop_gained
Transcription ID ENST00000336338
Start 118055862:118055862(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2593G>T
AA Mutation p.Glu865Ter(p.E865*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript