RGD:401722956 Rat Genome Database

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Variant: RGD:401722956 -  Homo sapiens

RGD ID: 401722956
ClinVar ID: CV2677150
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC13B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,400,366
GRCh38 9 35,400,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001374480.1:p.Arg1400His
NM_001371189.2:c.12410G>A
NM_001371188.2:c.3053G>A
NM_001387554.1:c.4013G>A
More...
05/23/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:UNC13B
Accession:NM_001371186
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1387
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
IKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVT
VKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAR
EDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387554
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFEL
PFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQP
NASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRE
TDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPF
TQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRT
SLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQ
RAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCA
QGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFL
GQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEAR
GDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAA
SNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLN
STYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQT
TQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPK
YNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSN
DEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387555
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1767
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
PDLQSLHYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTV
KVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFARE
DRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422605
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1017
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLF
AQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERD
KKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPC
ILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNAS
PDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSH
LSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTT
QGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKY
NETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSND
EVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_006377
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1388
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
TIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKV
TVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFA
REDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371188
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1018
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQT
TQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPK
YNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSN
DEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422602
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1363
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
SLHYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVA
ANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVL
GLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422601
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1767
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
PDLQSLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPF
VEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGS
CACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387553
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEISRLDLGLSVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFEL
PFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQP
NASVHQFPVPVRSPQQLLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRE
TDSIHSCHSSHSLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPF
TQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRT
SLKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQ
RAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCA
QGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFL
GQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEAR
GDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAA
SNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLN
STYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWH
LFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALE
RDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKL
PCILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGN
ASPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKEL
SHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQ
TTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAP
KYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRS
NDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001387551
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1400
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
PKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVD
LFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESY
ELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTE
EGS*

Gene Symbol:UNC13B
Accession:XM_047422603
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1363
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
SLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVT
MVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACW
CPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_011517686
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1018
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLIFFFNFLNPYFGCSSKIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSAKITITVVCAQ
GLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKSRVKQRLKRESDDFLG
QTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARG
DDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTNVSASDRFAAS
NFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNS
TYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHL
FAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALER
DKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLP
CILMNNVQQLRVQLEKMFEAMGGKELDLEAADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNA
SPDARASAAQDADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELS
HLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQT
TQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQ
SDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRK
IHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371189
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 4137
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
LSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTT
QGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKY
NETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSND
EVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001330653
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1388
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
TIKQYFHAGGNGLKKTFLEKSPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVG
EVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGN
EEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLK
SESRSTEEGS*

Gene Symbol:UNC13B
Accession:NM_001371187
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1768
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
SPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQVHDGKGIRFTANEDIRPEKGSGVDDPVGEVSIQVDLFTHPGTGEHKVT
VKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAR
EDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422600
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1768
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
SPDLQSLHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRP
FVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKG
SCACWCPLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

Gene Symbol:UNC13B
Accession:XM_047422604
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 1362
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
LHYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTM
VGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLGNEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWC
PLGRKIHMDETGLTILRILSQRSNDEVAREFVKLKSESRSTEEGS*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004295784 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UNC13B CLINVAR
OMIM 605836 CLINVAR