RGD:155923108 Rat Genome Database

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Variant: RGD:155923108 -  Homo sapiens

RGD ID: 155923108
ClinVar ID: CV2336783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126860620  UNC13B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,403,971
GRCh38 9 35,403,974
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033014.1:g.246983G>T
NG_085120.1:g.851G>T
NC_000009.12:g.35403974G>T
NM_001387554.1:c.4567G>T
More...
08/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UNC13B
Accession:XM_047422605
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLF
AQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERD
KKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPC
ILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNAS
PDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSH
LSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTT
QGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKY
NETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSND
ELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387554
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1523
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFEL
PFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQP
NASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRE
TDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPF
TQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRT
SLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQ
RAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCA
QGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFL
GQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEAR
GDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAA
SNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLN
STYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQT
TQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPK
YNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSN
DELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387555
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1971
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLLQESEEEIMVTLGPSSRLSPDKAKAETMCGTKSKSSGPAGSLPEDNSLPPCCGSAALAIGGDRDGDLAQLCSFGQQ
NNSQLPLGSTAYVSGSGSQDPSSVSITTSCQEPSERNQTKTLLSRGHGQGCSREQREPLGDVVEYIIRELQGISRLQTEI
AELQQHLSQVQGSVDEVSSCVDSVLSEIEGLQVSTCSLAKVCEGEKAQEPHVDRPSEEAILYLYGLPEQDGENTMELVES
FLAKHLCVNGMQCNRYIKKAYRAGTSPSPRPTVVKLAHLEHRDFILQKSILLQNVGVRIATREEPSCPQGNKNPQKESIS
FFQQQHQDYSQTSLNQDEPVLQMETGDRGPITGTYQMKAQDQQREHQAPEQQGPCFLLKNNLSKESDVPKLGDEIKGASR
TSQVISGSCDELSEKKASLSTPHQFEEPALVLISKEEASGKSQFFKQYSQKHEACKVGKPENDCHDKSEASSCLSLSGLL
KTERINAEDKLLGCEAGLDILSSKELEDLLADKSRRLAALSCDSMMEEIIIGPETFSDMVHIDLNEEEECAAHVLKDVFD
KSSCVLGGSQEDEDVEIKFYTSKLGRAIHHFRSALQGVFQKLENSGSISPEDLESNESGSQSENSDRLLGTVSSGGAQDC
SLESPGSQGSESLLSVVSGGVGVSTQGEQTPQDPSTFSLASNNSLPSVALAPCLGSETCSRPGSPKQGRLSLEQVCTETV
YLNKCINNFKNVLREKRLRQKKLLHELVQKANRLSVEDIHSEEKRGALQIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWG
IARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAH
VQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYH
VQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAV
MSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEE
DKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEY
PAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRF
AKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMV
FGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVM
NTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKS
PDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTV
KVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFARE
DRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001330653
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1592
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNF
EVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRER
NKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIF
GNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSG
AIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQ
AMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFP
AGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGP
SIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKV
KWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSF
EIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEA
ADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLF
ATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALD
TIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVG
EVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGN
EEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLK
SESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422602
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1567
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQG
MRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMK
TVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVR
VWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTC
LHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLL
ANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRM
KVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNS
YTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWF
EQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTI
GKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNS
FQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTME
RMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQ
SLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVA
ANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVL
GLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422603
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1548
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQG
MRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMK
TVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVR
VWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTC
LHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLL
ANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRM
KVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNS
YTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWF
EQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTI
GKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNS
FQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTME
RMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQ
SLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVT
MVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACW
CPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371187
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1972
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLLQESEEEIMVTLGPSSRLSPDKAKAETMCGTKSKSSGPAGSLPEDNSLPPCCGSAALAIGGDRDGDLAQLCSFGQQ
NNSQLPLGSTAYVSGSGSQDPSSVSITTSCQEPSERNQTKTLLSRGHGQGCSREQREPLGDVVEYIIRELQGISRLQTEI
AELQQHLSQVQGSVDEVSSCVDSVLSEIEGLQVSTCSLAKVCEGEKAQEPHVDRPSEEAILYLYGLPEQDGENTMELVES
FLAKHLCVNGMQCNRYIKKAYRAGTSPSPRPTVVKLAHLEHRDFILQKSILLQNVGVRIATREEPSCPQGNKNPQKESIS
FFQQQHQDYSQTSLNQDEPVLQMETGDRGPITGTYQMKAQDQQREHQAPEQQGPCFLLKNNLSKESDVPKLGDEIKGASR
TSQVISGSCDELSEKKASLSTPHQFEEPALVLISKEEASGKSQFFKQYSQKHEACKVGKPENDCHDKSEASSCLSLSGLL
KTERINAEDKLLGCEAGLDILSSKELEDLLADKSRRLAALSCDSMMEEIIIGPETFSDMVHIDLNEEEECAAHVLKDVFD
KSSCVLGGSQEDEDVEIKFYTSKLGRAIHHFRSALQGVFQKLENSGSISPEDLESNESGSQSENSDRLLGTVSSGGAQDC
SLESPGSQGSESLLSVVSGGVGVSTQGEQTPQDPSTFSLASNNSLPSVALAPCLGSETCSRPGSPKQGRLSLEQVCTETV
YLNKCINNFKNVLREKRLRQKKLLHELVQKANRLSVEDIHSEEKRGALQIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWG
IARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAH
VQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYH
VQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAV
MSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIE
EDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPE
YPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRR
FAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSM
VFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVV
MNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEK
SPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVT
VKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAR
EDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_011517686
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQT
TQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQ
SDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRK
IHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371186
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1572
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNF
EVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRER
NKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIF
GNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSG
AIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQ
AMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFP
AGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLQELPPEEQGPS
IRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVK
WLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFE
IIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAA
DSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFA
TVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDT
IKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVT
VKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAR
EDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387551
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1585
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCCHWTYLGWGEQQTFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLL
QGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQA
GFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQ
EIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQAL
IYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNII
MAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQ
VSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYN
LEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDE
FAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSL
RIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQ
LKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLC
KSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCS
VVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMF
EAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRP
LMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLT
PKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVD
LFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESY
ELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTE
EGS*

Gene Symbol:UNC13B
Accession:NM_001371188
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQT
TQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPK
YNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSN
DELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387553
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1524
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFEL
PFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQP
NASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRE
TDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPF
TQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRT
SLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQ
RAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCA
QGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFL
GQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEAR
GDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAA
SNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLN
STYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWH
LFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALE
RDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKL
PCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGN
ASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKEL
SHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQ
TTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAP
KYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRS
NDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422601
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1952
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLLQESEEEIMVTLGPSSRLSPDKAKAETMCGTKSKSSGPAGSLPEDNSLPPCCGSAALAIGGDRDGDLAQLCSFGQQ
NNSQLPLGSTAYVSGSGSQDPSSVSITTSCQEPSERNQTKTLLSRGHGQGCSREQREPLGDVVEYIIRELQGISRLQTEI
AELQQHLSQVQGSVDEVSSCVDSVLSEIEGLQVSTCSLAKVCEGEKAQEPHVDRPSEEAILYLYGLPEQDGENTMELVES
FLAKHLCVNGMQCNRYIKKAYRAGTSPSPRPTVVKLAHLEHRDFILQKSILLQNVGVRIATREEPSCPQGNKNPQKESIS
FFQQQHQDYSQTSLNQDEPVLQMETGDRGPITGTYQMKAQDQQREHQAPEQQGPCFLLKNNLSKESDVPKLGDEIKGASR
TSQVISGSCDELSEKKASLSTPHQFEEPALVLISKEEASGKSQFFKQYSQKHEACKVGKPENDCHDKSEASSCLSLSGLL
KTERINAEDKLLGCEAGLDILSSKELEDLLADKSRRLAALSCDSMMEEIIIGPETFSDMVHIDLNEEEECAAHVLKDVFD
KSSCVLGGSQEDEDVEIKFYTSKLGRAIHHFRSALQGVFQKLENSGSISPEDLESNESGSQSENSDRLLGTVSSGGAQDC
SLESPGSQGSESLLSVVSGGVGVSTQGEQTPQDPSTFSLASNNSLPSVALAPCLGSETCSRPGSPKQGRLSLEQVCTETV
YLNKCINNFKNVLREKRLRQKKLLHELVQKANRLSVEDIHSEEKRGALQIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWG
IARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAH
VQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYH
VQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAV
MSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEE
DKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEY
PAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRF
AKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMV
FGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVM
NTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKS
PDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPF
VEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGS
CACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422604
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1547
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQG
MRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMK
TVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVR
VWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTC
LHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLL
ANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRM
KVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSY
TPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFE
QFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIG
KVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSF
QVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMER
MIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQS
LRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTM
VGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWC
PLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422600
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1953
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRLLQESEEEIMVTLGPSSRLSPDKAKAETMCGTKSKSSGPAGSLPEDNSLPPCCGSAALAIGGDRDGDLAQLCSFGQQ
NNSQLPLGSTAYVSGSGSQDPSSVSITTSCQEPSERNQTKTLLSRGHGQGCSREQREPLGDVVEYIIRELQGISRLQTEI
AELQQHLSQVQGSVDEVSSCVDSVLSEIEGLQVSTCSLAKVCEGEKAQEPHVDRPSEEAILYLYGLPEQDGENTMELVES
FLAKHLCVNGMQCNRYIKKAYRAGTSPSPRPTVVKLAHLEHRDFILQKSILLQNVGVRIATREEPSCPQGNKNPQKESIS
FFQQQHQDYSQTSLNQDEPVLQMETGDRGPITGTYQMKAQDQQREHQAPEQQGPCFLLKNNLSKESDVPKLGDEIKGASR
TSQVISGSCDELSEKKASLSTPHQFEEPALVLISKEEASGKSQFFKQYSQKHEACKVGKPENDCHDKSEASSCLSLSGLL
KTERINAEDKLLGCEAGLDILSSKELEDLLADKSRRLAALSCDSMMEEIIIGPETFSDMVHIDLNEEEECAAHVLKDVFD
KSSCVLGGSQEDEDVEIKFYTSKLGRAIHHFRSALQGVFQKLENSGSISPEDLESNESGSQSENSDRLLGTVSSGGAQDC
SLESPGSQGSESLLSVVSGGVGVSTQGEQTPQDPSTFSLASNNSLPSVALAPCLGSETCSRPGSPKQGRLSLEQVCTETV
YLNKCINNFKNVLREKRLRQKKLLHELVQKANRLSVEDIHSEEKRGALQIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWG
IARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAH
VQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYH
VQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAV
MSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIE
EDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPE
YPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRR
FAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSM
VFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVV
MNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEK
SPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRP
FVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKG
SCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371189
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 4322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAIRYAQKYDTLDRRRKKKSLYNHFEDSERRQYGERSETKTNYKSTYSNTENCTLCHTEKKQNMGYPVLY
PYKNGFVVKSGMQRIKLESHDYDLSSCLRHCEKSSGSNQHVTNFTSLDILEDSTSSTSDELLGSPISDKQENLQSPTWHS
SNVHHIGDFPEEYYVANSALPLQRMNCDAKTLGDLSECSIEEITPSSIEEPKEDRIDTMDELQCLVETVSEYLAEKEEEI
NRFGSLSKTKKSHKQNSTLDAEQRTPGDQIPPLTIVKNDKDTAISFPELTGVQCAVGSLFSSLTEKVGSGTKHLTNSVEK
LVSLVPEKTETLNQIEAINLGSKPRAMAVLGKDLSMQSPLSSQKDDNVNIDRHRKTSENEHMGNKTGSLYFQNTTESIAK
DLAPQSQSSVIKSVFSRLNPLKIFSEKEETKKDDDQSKPPRKESFVECGLELNKREGTLDNYSSSIIALNGSDEETTGWF
QMPTSENLLSSQVTSEPSNLVSSASKNDESLLEEKLCIDLSLLPDQQKICAKDTPGHPCIAGSRTANKEVFSKPLEEDKV
TGNDDFLEPLRKSFSQFLLTSPETCSKESLSEPVKIRQVEEDGLERGSKKDGHSFSFSGKLNLPFFRSLGHSEKQQELKE
KGSIFPLFKFSFTDSKVTVNDQSLRGSAVTTDEESKKNCHEDTKHSSIKSSSVPNIHSDLGKFDSTEEFKKNDQINCPED
AKLNSIKSSSVPNIHDDLEKFDSIKEFNKNDQVNCPEDAKLSSIKSGSAPNTQDNLGKFDSTEEFNQNDQINSPEDAKFN
IIKSDSVTNINNDLGKFGNIEELNPSDHTAGQNFERDGLAIPGVVPKEHITSDPLGEDKNLIQAASSVASDSSLECISTT
SKSTLVNEINEDEVIDKTSKKNTQGSFLSGLFNRFSSAENLSSQELNLKNDDSHHKNNTPGLISGIFNLLSNSGMIDHKP
EEAKFMSLGNMKSLNGDNHLSLDEVPATSCVTSENPKNHVEKHETSSFIEASLLPKENIPLSDAGDDNHYCSPTEKNQQS
EKHHPSSENIVLHCAPSAQLGFLEKSMAKRQMPNHVLEAKLHENSNKLNSPVLNTNILNKSNNYQAFEEMNSPFCFEWDS
DIKDLSKNSRKLQPVYYMLNQNRFLSADACLWLDSENSVINFCQKDQNANILEWRTNPNSVIWCDLPYESFNQLAFNEDY
LLRGDVWAANSLYGNSGPLPINEANNSLEELPIDLSSSSDHEKTTCPVVDQESLRMDENFVFSSFGYEYQEWLSCLEHGV
WWPSEDGDYGYYMFHDGQYIYSLLTDSTGQYAYLFIPDSYQEYLDCDLQTNGLSSITLDDSIISACSFKVLDKEDEIFWY
VEEEPIDDPLDLSLALPRSEEPLYLNLETFSQVLKESSCDQSDQPLDFSGYNRQKFKGDFRSFKERPCGSEDAECTLDLR
NQPQTISNHVSSRDQIIERDKNQPLAEDSSVHLSSFHWLQSSVEEVTTLVHPENMTKGSQQAEETSLVNKVASVFSVLGA
SVGSTLKFDKSESLEALAMQKVNQQSDLAELTNDGFQSLIMSKQLEGNSPNVEKSLLKDSERQIVSNVQHPELIKNIRQE
FSLNKNNHVKKQSLLKSGFQVSQTTPQAKSGVKDDEIITTDSISVSPAPQHSGDERENYELPQGQSSKESDKTLFKSSLK
LFSQEESSVSMTANEKQSSGFLNLFKTQVNKEGSPNLEKIGDTNVKIPPQEKKESSGVSNFWGTLGDFFKANVSPIQTTE
NTSVSSMTIKDEVRSSPTPMELASQGAGNFPAAPISSKGKARVRRLNKQTTIDDSRLEESTRGIQGNDLTEKEVPFRDHL
IQQSPNSSFSTSSLKESSRESSVETSGVTTVTEVSKSNEISFDTLSKRNSNEQDHFSDKDWSFSMAATSSSQPELSTKKS
IFSFLTGSEKSENRASATLPRAKSQAEGLFTLPSFFSTASSSIKKDASHSSSTFSFFSLSFLDQKKETSGEKQSISTVVP
VTSQPCKKTNVFVESGSTMTRESSSGHRDSIAQEVVHEQQMAPCISINNTIEVTSLADELSVDKDCQEKLSSNIVPGTSV
DFQMNELQKDIIPPSPEFQAQAETFLTGPENLGIAPHEEEAFNHKAFPSDSLSNSFSHAKQLIEKFNDLDTCTNCHQNEK
FTTDPVNLPLEKAPDEVLPQILEPASSSPEPGCAGNLQNQDADKEEDKFALGSSVDMLSGFVTKVKSFSGSLIEPPKTLS
GLFSSPKSPKKNSFFSLASDVSSQPLKGELFGIFKSPKPEPYKQESSLPATSWLQNGCSRDAVGSVPPERREAAFTALSS
ESTLSDCRMTVVSAKPESDILTDDPKLTTKMEDNNTPENILEPQRSETINTSSFSGDDTGQGVLSLSDEGDMGILQATDT
EASLEAENFALPAQLHPDPTCIAEELPPPIQPPLPLEPEPAIQTASTNQDLLELHPASSLETDTMLFNDASVSQSTTLET
EGHFSHPLLEDPVLAARESCEIIHAQKDPPVVPQETEQSRPRFEIPNVTTWPKLRLPSSATNHGKPLSSFFSSPLPSGNR
AAETGLMSSFKKLSTLFEGSSEGKGSVLASDSKLGFGKVDLSFPWPKENKGVPEQMPTESSPPVLVTSSDQDLNSSEANK
ALKSSQISGASAQPGKVYTQPSGTSEQLVASPEVCAQGLSGSGEGGNQQEISASGEHWDTKANLSSPACPSGKHEEEPST
VSEIFHQLEKQEEEAVPASTDSDLNVQQPVTLNDIKEPMTNKSPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETD
SIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQ
ARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSL
KDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRA
AEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQG
LQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQ
TIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGD
DAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASN
FGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNST
YEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLF
AQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERD
KKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPC
ILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNAS
PDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSH
LSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTT
QGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKY
NETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSND
ELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_006377
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 1573
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMVGTVWI
ALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQ
EESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSHSLSRDGQAGFGEQEKPLEVT
GQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQ
WLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNF
EVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRER
NKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIF
GNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSG
AIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQ
AMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFP
AGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGP
SIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKV
KWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSF
EIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEA
ADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDGNLTLF
ATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALD
TIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKV
TVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFA
REDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDELAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NR_170667
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004190406 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC126860620 CLINVAR
  UNC13B CLINVAR
OMIM 605836 CLINVAR