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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DNM2-MARS (FusionGDB2 ID:HG1785TG84174)

Fusion Gene Summary for DNM2-MARS

check button Fusion gene summary
Fusion gene informationFusion gene name: DNM2-MARS
Fusion gene ID: hg1785tg84174
HgeneTgene
Gene symbol

DNM2

MARS

Gene ID

1785

84174

Gene namedynamin 2Src like adaptor 2
SynonymsCMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5C20orf156|MARS|SLAP-2|SLAP2
Cytomap('DNM2')('MARS')

19p13.2

20q11.23

Type of geneprotein-codingprotein-coding
Descriptiondynamin-2dynamin IIsrc-like-adapter 2Src-like adapter protein-2modulator of antigen receptor signaling
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000314646, ENST00000355667, 
ENST00000359692, ENST00000389253, 
ENST00000408974, ENST00000585892, 
ENST00000591819, 
Fusion gene scores* DoF score36 X 17 X 17=1040416 X 19 X 8=2432
# samples 4923
** MAII scorelog2(49/10404*10)=-4.40821274494042
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/2432*10)=-3.40243746249921
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNM2 [Title/Abstract] AND MARS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDNM2(10897382)-MARS(57891940), # samples:1
Anticipated loss of major functional domain due to fusion event.DNM2-MARS seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DNM2-MARS seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DNM2-MARS seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DNM2-MARS seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDNM2

GO:1903526

negative regulation of membrane tubulation

18388313

TgeneMARS

GO:0000122

negative regulation of transcription by RNA polymerase II

11696592

TgeneMARS

GO:0050849

negative regulation of calcium-mediated signaling

11696592


check buttonFusion gene breakpoints across DNM2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across MARS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GN-01ADNM2chr19

10897382

+MARSchr12

57891940

+


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Fusion Gene ORF analysis for DNM2-MARS

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000314646ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
5CDS-3UTRENST00000355667ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
5CDS-3UTRENST00000359692ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
5CDS-3UTRENST00000389253ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
5CDS-3UTRENST00000408974ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
5CDS-3UTRENST00000585892ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000314646ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000314646ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000355667ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000355667ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000359692ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000359692ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000389253ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000389253ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000408974ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000408974ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000585892ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
In-frameENST00000585892ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
intron-3CDSENST00000591819ENST00000262027DNM2chr19

10897382

+MARSchr12

57891940

+
intron-3CDSENST00000591819ENST00000315473DNM2chr19

10897382

+MARSchr12

57891940

+
intron-3UTRENST00000591819ENST00000447721DNM2chr19

10897382

+MARSchr12

57891940

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000585892DNM2chr1910897382+ENST00000262027MARSchr1257891940+315711561643088974
ENST00000585892DNM2chr1910897382+ENST00000315473MARSchr1257891940+313911561642995943
ENST00000314646DNM2chr1910897382+ENST00000262027MARSchr1257891940+315711561643088974
ENST00000314646DNM2chr1910897382+ENST00000315473MARSchr1257891940+313911561642995943
ENST00000359692DNM2chr1910897382+ENST00000262027MARSchr1257891940+314311421503074974
ENST00000359692DNM2chr1910897382+ENST00000315473MARSchr1257891940+312511421502981943
ENST00000389253DNM2chr1910897382+ENST00000262027MARSchr1257891940+310511041123036974
ENST00000389253DNM2chr1910897382+ENST00000315473MARSchr1257891940+308711041122943943
ENST00000355667DNM2chr1910897382+ENST00000262027MARSchr1257891940+30731072803004974
ENST00000355667DNM2chr1910897382+ENST00000315473MARSchr1257891940+30551072802911943
ENST00000408974DNM2chr1910897382+ENST00000262027MARSchr1257891940+30281027352959974
ENST00000408974DNM2chr1910897382+ENST00000315473MARSchr1257891940+30101027352866943

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000585892ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0026211970.9973788
ENST00000585892ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.0026933660.9973066
ENST00000314646ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0026211970.9973788
ENST00000314646ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.0026933660.9973066
ENST00000359692ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0025372750.99746275
ENST00000359692ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.0026187130.99738127
ENST00000389253ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0024654320.9975345
ENST00000389253ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.0025464610.9974535
ENST00000355667ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0024695440.9975305
ENST00000355667ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.0025623720.9974376
ENST00000408974ENST00000262027DNM2chr1910897382+MARSchr1257891940+0.0025558150.99744415
ENST00000408974ENST00000315473DNM2chr1910897382+MARSchr1257891940+0.002677390.9973226

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Fusion Genomic Features for DNM2-MARS


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
DNM2chr1910897382+MARSchr1257891939+2.43E-091
DNM2chr1910897382+MARSchr1257891939+2.43E-091

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for DNM2-MARS


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:10897382/chr12:57891940)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+72128_294330871.0DomainDynamin-type G
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+72028_294330867.0DomainDynamin-type G
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+72128_294330871.0DomainDynamin-type G
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+72028_294330867.0DomainDynamin-type G
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+72128_294330870.0DomainDynamin-type G
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721205_211330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721236_239330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+72138_46330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720205_211330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720236_239330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+72038_46330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721205_211330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721236_239330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+72138_46330871.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720205_211330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720236_239330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+72038_46330867.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721205_211330870.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721236_239330870.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+72138_46330870.0Nucleotide bindingGTP
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721136_139330871.0RegionG3 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721205_208330871.0RegionG4 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721235_238330871.0RegionG5 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+72138_45330871.0RegionG1 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+72164_66330871.0RegionG2 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720136_139330867.0RegionG3 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720205_208330867.0RegionG4 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720235_238330867.0RegionG5 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+72038_45330867.0RegionG1 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+72064_66330867.0RegionG2 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721136_139330871.0RegionG3 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721205_208330871.0RegionG4 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721235_238330871.0RegionG5 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+72138_45330871.0RegionG1 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+72164_66330871.0RegionG2 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720136_139330867.0RegionG3 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720205_208330867.0RegionG4 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720235_238330867.0RegionG5 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+72038_45330867.0RegionG1 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+72064_66330867.0RegionG2 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721136_139330870.0RegionG3 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721205_208330870.0RegionG4 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721235_238330870.0RegionG5 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+72138_45330870.0RegionG1 motif
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+72164_66330870.0RegionG2 motif
TgeneMARSchr19:10897382chr12:57891940ENST00000262027621841_897256901.0DomainNote=WHEP-TRS
TgeneMARSchr19:10897382chr12:57891940ENST00000262027621273_283256901.0MotifNote='HIGH' region
TgeneMARSchr19:10897382chr12:57891940ENST00000262027621593_597256901.0MotifNote='KMSKS' region

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721747_866330871.0Compositional biasNote=Pro-rich
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720747_866330867.0Compositional biasNote=Pro-rich
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721747_866330871.0Compositional biasNote=Pro-rich
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720747_866330867.0Compositional biasNote=Pro-rich
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721747_866330870.0Compositional biasNote=Pro-rich
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721519_625330871.0DomainPH
HgeneDNM2chr19:10897382chr12:57891940ENST00000355667+721653_744330871.0DomainGED
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720519_625330867.0DomainPH
HgeneDNM2chr19:10897382chr12:57891940ENST00000359692+720653_744330867.0DomainGED
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721519_625330871.0DomainPH
HgeneDNM2chr19:10897382chr12:57891940ENST00000389253+721653_744330871.0DomainGED
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720519_625330867.0DomainPH
HgeneDNM2chr19:10897382chr12:57891940ENST00000408974+720653_744330867.0DomainGED
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721519_625330870.0DomainPH
HgeneDNM2chr19:10897382chr12:57891940ENST00000585892+721653_744330870.0DomainGED
TgeneMARSchr19:10897382chr12:57891940ENST0000026202762174_198256901.0DomainNote=GST C-terminal


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Fusion Gene Sequence for DNM2-MARS


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>23645_23645_1_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000262027_length(transcript)=3157nt_BP=1156nt
GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG
CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA
TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG
TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC
GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG
AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT
CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA
TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG
CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG
CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA
AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC
ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT
CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG
GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG
ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG
CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG
ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG
ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG
AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC
CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA
GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG
GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT
ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT
TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG
GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC
TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA
ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC
TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT
CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA
CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC
AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT
TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAG
AGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCAC
AAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTG
AAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAA
TCTCTAT

>23645_23645_1_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_2_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000315473_length(transcript)=3139nt_BP=1156nt
GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG
CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA
TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG
TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC
GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG
AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT
CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA
TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG
CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG
CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA
AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC
ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT
CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG
GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG
ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG
CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG
ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG
ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG
AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC
CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA
GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG
GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT
ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT
TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG
GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC
TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA
ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC
TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT
CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA
CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC
AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT
TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCC
ACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTA
CAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAG
GGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_2_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

--------------------------------------------------------------
>23645_23645_3_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000262027_length(transcript)=3073nt_BP=1072nt
CAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACC
GCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGA
TCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCG
TCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACT
TTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAG
TCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGT
ACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACT
CCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCA
CCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGG
GCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCA
CGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGC
TGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTG
TGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCA
GTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGA
CCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTT
CGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGC
TGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCT
ATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGAT
CATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGC
CTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCA
AATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAG
CCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCC
ATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATG
AGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCT
ATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACC
TGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGC
GCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCA
CCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAA
CAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCC
AGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTC
CCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAG
TTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGA
AAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAAC
CCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAAT
GTACAATCTCTAT

>23645_23645_3_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_4_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000315473_length(transcript)=3055nt_BP=1072nt
CAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACC
GCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGA
TCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCG
TCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACT
TTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAG
TCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGT
ACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACT
CCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCA
CCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGG
GCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCA
CGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGC
TGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTG
TGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCA
GTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGA
CCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTT
CGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGC
TGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCT
ATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGAT
CATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGC
CTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCA
AATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAG
CCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCC
ATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATG
AGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCT
ATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACC
TGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGC
GCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCA
CCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAA
CAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCC
AGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTC
CCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCT
CGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCT
CACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGA
GGTTAGGGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_4_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

--------------------------------------------------------------
>23645_23645_5_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000262027_length(transcript)=3143nt_BP=1142nt
GCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGT
CGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATC
CCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAG
AGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATT
CTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAG
ATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTG
AACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATC
CTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCC
AAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTG
GAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCA
GCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG
CTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAG
GTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTG
CTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGG
TACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGA
CTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGC
ACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAA
CTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGAC
CAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCG
AGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCC
AATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCC
TTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGG
GAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGC
TCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAG
AGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCT
GAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGA
GCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACC
CTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAAC
CAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTG
AATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCA
GCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAA
AATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACA
GCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAG
AACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGC
AAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAATCTCTAT

>23645_23645_5_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_6_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000315473_length(transcript)=3125nt_BP=1142nt
GCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGT
CGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATC
CCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAG
AGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATT
CTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAG
ATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTG
AACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATC
CTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCC
AAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTG
GAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCA
GCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG
CTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAG
GTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTG
CTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGG
TACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGA
CTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGC
ACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAA
CTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGAC
CAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCG
AGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCC
AATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCC
TTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGG
GAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGC
TCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAG
AGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCT
GAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGA
GCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACC
CTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAAC
CAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTG
AATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCA
GCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAA
AATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGC
ATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCC
TGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGT
TGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_6_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

--------------------------------------------------------------
>23645_23645_7_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000262027_length(transcript)=3105nt_BP=1104nt
CCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCT
CGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCAT
CGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGG
CCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTT
TTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAA
AGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGT
GCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGC
TGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGT
CATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGG
CGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCC
GGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCT
GCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCAC
CCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCC
CCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTG
TGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCAT
CCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACAT
TTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCG
CTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGA
GCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAA
GCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGG
CCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTT
TGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTA
TCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAG
CCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGA
CACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCT
GCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGT
GCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGT
TCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAA
AGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTA
CATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTT
ACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGG
GGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGT
GACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCT
AAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTC
ACTTTAATAGATAGGGACAGTAATAAATAAATGTACAATCTCTAT

>23645_23645_7_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_8_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000315473_length(transcript)=3087nt_BP=1104nt
CCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCT
CGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCAT
CGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGG
CCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTT
TTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAA
AGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGT
GCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGC
TGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGT
CATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGG
CGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCC
GGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCT
GCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCAC
CCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCC
CCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTG
TGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCAT
CCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACAT
TTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCG
CTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGA
GCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAA
GCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGG
CCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTT
TGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTA
TCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAG
CCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGA
CACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCT
GCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGT
GCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGT
TCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAA
AGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTA
CATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTT
ACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGG
GGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATC
ACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACC
ACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGT
CCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_8_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

--------------------------------------------------------------
>23645_23645_9_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000262027_length(transcript)=3028nt_BP=1027nt
AGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACG
CCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGG
AGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG
AACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCA
CGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGG
GTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCA
GCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTAC
GGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAA
GAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCT
TCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACA
TCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGC
CCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACG
TCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACA
CCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACA
AGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAA
TCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCT
TCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCA
TCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGC
CTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTT
GGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTAT
TCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGC
AAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACT
ATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGG
ACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCT
GGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCT
TTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGC
TACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCT
GGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCA
TGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACT
TCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGC
AGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGC
TGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGA
AACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGG
CTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAATCTCTAT

>23645_23645_9_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_10_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000315473_length(transcript)=3010nt_BP=1027nt
AGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACG
CCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGG
AGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG
AACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCA
CGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGG
GTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCA
GCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTAC
GGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAA
GAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCT
TCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACA
TCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGC
CCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACG
TCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACA
CCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACA
AGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAA
TCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCT
TCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCA
TCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGC
CTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTT
GGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTAT
TCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGC
AAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACT
ATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGG
ACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCT
GGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCT
TTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGC
TACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCT
GGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCA
TGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACT
TCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGC
AGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTA
GTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGA
CTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTC
CAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_10_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

--------------------------------------------------------------
>23645_23645_11_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000262027_length(transcript)=3157nt_BP=1156nt
GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG
CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA
TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG
TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC
GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG
AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT
CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA
TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG
CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG
CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA
AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC
ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT
CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG
GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG
ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG
CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG
ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG
ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG
AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC
CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA
GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG
GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT
ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT
TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG
GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC
TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA
ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC
TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT
CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA
CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC
AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT
TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAG
AGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCAC
AAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTG
AAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAA
TCTCTAT

>23645_23645_11_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP
KPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK

--------------------------------------------------------------
>23645_23645_12_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000315473_length(transcript)=3139nt_BP=1156nt
GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG
CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA
TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG
TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC
GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG
AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT
CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA
TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG
CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG
CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA
AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC
ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT
CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG
GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG
ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG
CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG
ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG
ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG
AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC
CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA
GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG
GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT
ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT
TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG
GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC
TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA
ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC
TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT
CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA
CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC
AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT
TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCC
ACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTA
CAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAG
GGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTG

>23645_23645_12_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331
MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK
FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD
LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD
RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG
CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR
GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG
RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN
VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL
LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ
RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK
AVPSLHNSHSITSLISLSSPHPSLFPSFGPAASSLTVFLSCLN

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Fusion Gene PPI Analysis for DNM2-MARS


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DNM2-MARS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DNM2-MARS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDNM2C4551952Myopathy, Centronuclear, 113CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDNM2C1847902CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNM2C1834558Myopathy, Centronuclear, Autosomal Dominant7CLINGEN;CTD_human;ORPHANET
HgeneDNM2C0175709Centronuclear myopathy2CTD_human;GENOMICS_ENGLAND
HgeneDNM2C3809272LETHAL CONGENITAL CONTRACTURE SYNDROME 52CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDNM2C0410203X-linked centronuclear myopathy1CTD_human
HgeneDNM2C0410207Tubular Aggregate Myopathy1CTD_human
HgeneDNM2C0546264Congenital Fiber Type Disproportion1CTD_human
HgeneDNM2C0752282Congenital Structural Myopathy1CTD_human
HgeneDNM2C3645536Autosomal Recessive Centronuclear Myopathy1CTD_human
HgeneDNM2C3661489Autosomal Dominant Myotubular Myopathy1CTD_human