Targeted-Sequencing Gene Panels Used by Each Hospital Huashan

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Targeted-sequencing gene panels used by each hospital

Huashan Hospital Fudan University

ALG13 CACNA1S CAV3 CLCN1 KCNA2 KCNE3 KCNJ18

ABHD5 ACADL ACADM ACADS ACADVL ACTA1 ACTN3

ACVR1 ADCK3 AGK AGL AGRN ALDOA ALG14

ALG2 ANO5 ARFGAP2 ATP2A1 B3GALNT2 B3GNT1 B4GALT1

B4GAT1 BAG3 BIN1 BOLA3 C10orf2 CAPN3 CASQ1

CCDC78 CELF1 CFL2 CHAT CHCHD10 CHKB CHRNA1

CHRNB1 CHRND CHRNE CHRNG CKM CMYA5 CNBP

CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2

COQ6 COQ9 CPT2 CRYAB CSRP3 DAG1 DES

DMD DMPK DNAJB6 DNM2 DOK7 DOLK DPAGT1

DPM1 DPM2 DPM3 DUX4 DYSF EMD ENO3

EPM2A ETFA ETFB ETFDH ETHE1 FBXO32 FHL1

FHL2 FKRP FKTN FLNC GAA GBE1 GFPT1

GMPPB GNE GYG1 GYS1 HACD1 HADH HINT1

HNRNPL HSPG2 ISCU ISPD ITGA7 ITGA9 KBTBD13

KLHL40 KLHL41 KLHL9 KY LAMA2 LAMB2 LAMP1

LAMP2 LARGE LDB3 LDHA LDHB LIFR LIMS2

LMNA LPIN1 LRP4 MATR3 MBNL1 MBNL2 MBNL3

MEGF10 MICU1 MSTN MTM1 MTMR14 MUSK MYBPC1

MYBPC2 MYBPC3 MYH1 MYH2 MYH3 MYH4 MYH7

Zhong H, et al. J Med Genet 2020;0:1–8. doi: 10.1136/jmedgenet-2020-107159 BMJ Publishing Group Limited (BMJ) disclaims all liability and responsibility arising from any reliance Supplemental material placed on this supplemental material which has been supplied by the author(s) J Med Genet

MYH8 MYL1 MYL10 MYL12A MYL12B MYL2 MYL3

MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLIP

MYLK MYLK2 MYLK3 MYLK4 MYLPF MYOM1 MYOM2

MYOM3 MYOT MYOZ1 MYOZ2 MYOZ3 MYPN NBR1

NEB NEBL NHLRC1 NTRK1 OBSCN OBSL1 OPA1

ORAI1 PABPN1 PDLIM3 PDLIM5 PDLIM7 PDSS1 PDSS2

PFKM PGAM2 PGK1 PGM1 PHKA1 PLEC PLEKHG4

PLN PNPLA2 POLG POMGNT1 POMGNT2 POMK POMT1

POMT2 PRKAG2 PTRF PUS1 PYGM QDPR RAPSN

RBCK1 RRM2B RYR1 SEPN1 SGCA SGCB SGCD

SGCG SLC22A5 SLC25A20 SLC25A4 SMCHD1 SOX10 SPEG

SQSTM1 SRF STIM1 SUCLA2 SYNE1 SYNE2 SYNE3

SYNPO2 SYT2 TCAP TIA1 TK2 TMEM5 TMOD3

TNNC1 TNNC2 TNNI1 TNNI2 TNNI3 TNNT1 TNNT3

TNPO3 TOR1AIP1 TPM1 TPM2 TPM3 TRAPPC11 TRIM32

TRIM55 TRIM63 TTN TTR VCP VMA21 YARS2

KCNJ2 SCN4A TMEM43

Peking University First Hospital

AAAS AARS ABC1 ABCA1 ABCD1 ABHD12 ABHD5

ACAD8 ACADL ACADM ACADS ACADVL ACTA1 ACVR1

ADCK3 AGC1 AGL AGRN AIFM1 AIRE ALDOA

ALDOB ALG1 ALG12 ALG13 ALG14 ALG2 ALG3

ALG6 ALG8 ALG9 ALS2 AMACR ANO5 APOA1

ARHGEF10 ARL6IP1 ARSA ASAH1 ASL ATL1 ATL3

ATM ATP7A ATP7B B3GALNT2 B3GNT1 B4GALT1 BAG3

BICD2 BIN1 BSCL2 C10orf2 C7orf10 CACNA1A CACNA1C

CACNA1S CACNB2 CACNL2D1 CAPN3 CASQ1 CAV3 CCDC78

CCT5 CFL2 CHAT CHCHD10 CHKB CHN1 CHRM3

CHRNA1 CHRNB CHRNB1 CHRND CHRNE CHRNG CLCN1

CLN3 CNTN1 COG1 COG7 COG8 COL12A1 COL25A1

COL6A1 COL6A2 COL6A3 COL9A2 COL9A3 COLQ COMP

COQ2 COQ6 COQ9 COX6A1 CP CPT1A CPT2

CRAT CRYAB CTDP1 CUL4B DAG1 DCAF8 DCTN1

DECR1 DES DGUOK DHH DHTKD1 DMD DNAJB2

DNAJB6 DNAJC3 DNM2 DNMT1 DOK7 DOLK DPAGT1

DPM1 DPM2 DPM3 DST DYNC1H1 DYSF ECEL1

EGR2 EMD ENO3 EPM2A ETFA ETFB ETFDH

ETHE1 EXOSC3 EXOSC8 FAM134B FBLN5 FBP1 FBXO38

FGA FGD4 FHL1 FIF1B FIG4 FKBP14 FKRP

FKTN FLNA FLNC FLVCR1 FUS G6PC GAA

GALC GALE GALK1 GALT GARS GBE1 GCH1

GCS1 GDAP1 GFPT1 GJB1 GJB3 GK GLA

GLYCTK GMPPB GNB4 GNE GPD1L GYG1 GYS1

GYS2 HADH HADHA HADHB HAMP HARS HCN4

HEXA HFE HFE2 HINT1 HK1 HNRNPA1 HNRNPA2B1

HNRNPDL HNRPDL HOXA1 HOXD10 HRAS HSPB1 HSPB3

HSPB8 IFRD1 IGHMBP2 IKBKAP INF2 ISCU ISPD

ITGA7 ITGA9 KARS KBTBD13 KCNA1 KCNE1 KCNE2

KCNE3 KCNH2 KCNJ16 KCNJ18 KCNJ2 KCNJ3 KCNJ5

KCNQ1 KHK KIF1A KIF21A KIF5A KLHL40 KLHL9

LAMA2 LAMB2 LAMP2 LARGE LAS1L LDB3 LDHA

LDHB LDHC LDHM LIMS2 LITAF LMNA LPIN1

LRP4 LRSAM1 LYZ MAPT MARS MATR3 MED25

MEGF10 MFN2 MGAT2 MLYCD MMACHC MOGS MPDU1

MPI MPZ MSTN MTAP MTM1 MTMR2 MTO1

MUSK MVK MYBPC1 MYBPC3 MYF6 MYH14 MYH2

MYH3 MYH7 MYH8 MYLK2 MYOT NAGLU NDRG1

NEB NEFL NGF NHLRC1 NIPA1 NTRK1 OPA1

ORAI1 OTC PABPN1 PDK3 PDSS1 PDSS2 PEX1

PEX7 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2

PHKB PHKG2 PHOX2A PHYH PIEZO2 PLA2G6 PLEC

PLEKHG5 PMM2 PMP22 PNPLA2 POLG POMGNT1 POMGNT2

POMK POMT1 POMT2 PREPL PRKAG2 PRKG2 PRNP

PRPS1 PRX PTPLA PTRF PYGL PYGM RAB7A

RAPSN RBCK1 RBM28 REEP1 RFT1 RNF170 RYR1

SALL4 SBF1 SBF2 SCN11A SCN1A SCN1B SCN3B

SCN4A SCN4B SCN5A SCN9A SCO2 SCP2 SECISBP2

SEPN1 SGCA SGCB SGCD SGCE SGCG SGK196

SH3TC2 SIL1 SLC12A6 SLC22A5 SLC25A1 SLC25A12 SLC25A20

SLC25A3 SLC25A4 SLC2A2 SLC35A1 SLC35C1 SLC37A4 SLC40A1

SLC4A1 SLC5A7 SMCHD1 SMN1 SMN2 SNAP25 SOD1

SOX10 SPAST SPG11 SPTLC1 SPTLC2 STIM1 SURF1

TALDO1 TAZ TBX5 TCAP TDP1 TFG TGFB1

TH TIA1 TK2 TMEM43 TMEM5 TNNI2 TNNI3

TNNT1 TNNT2 TNNT3 TNPO3 TNXB TOR1AIP1 TPI1

TPM1 TPM2 TPM3 TRAPPC11 TRIM2 TRIM32 TRPV4

TTN TTR TUBB2B TUBB3 UBA1 UTRN VAPB

VCP VMA21 VRK1 XK YARS ZBTB42 ZC4H2

Shandong University Qilu Hospital/ The Third Hospital of Hebei Medical University ACTA1 ACTG2 ACVR1 ADCY5 ADCY6 ADGRG6 AGRN

ALG14 ALG2 AMPD1 ANO5 ATP2A1 B3GALNT2 B4GAT1

BAG3 BIN1 BVES CACNA1A CACNA1S CAPN3 CASQ1

CASQ2 CAV3 CCDC78 CFL2 CHAT CHCHD10 CHKB

CHMP1B CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNBP

CNTN1 CNTNAP1 COA6 COL12A1 COL13A1 COL25A1 COL6A1

COL6A2 COL6A3 COLQ CPT2 CRYAB DAG1 DES

DMD DMPK DNA2 DNAJB6 DNM2 DOK7 DPAGT1

DYSF ECEL1 EMD ERBB3 FAM111B FBN2 FHL1

FKBP14 FKRP FKTN FLAD1 FLNC GAMT GFER

GFPT1 GLDN GLE1 GMPPB GNE GYG1 HACD1

HINT1 HNRNPA2B1 HNRNPDL HRAS ISCU ISPD ITGA7

KBTBD13 KCNA1 KCNA2 KCNE1 KCNE3 KCNH2 KCNJ16

KCNJ18 KCNJ2 KCNJ5 KCNQ1 KCNQ2 KIF21A KLHL40

KLHL41 KY LAMA2 LARGE1 LDB3 LIMS2 LMNA

LMOD3 LPIN1 LRP4 MEGF10 MICU1 MSTN MTM1

MUSK MYBPC1 MYF6 MYH14 MYH2 MYH3 MYH7

MYH8 MYO18B MYOT MYPN NALCN NEB NEK9

NOL3 NOTCH3 OPA1 ORAI1 PABPN1 PDGFRB PHOX2A

PIEZO2 PIP5K1C PLEC PNPLA2 PNPLA8 POGLUT1 POLG

POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL

PUS1 PYROXD1 RAPSN RBCK1 RNASEH1 RRM2B RYR1

RYR2 SCN1A SCN4A SCN5A SELENON SGCA SGCB

SGCD SGCE SGCG SLC18A3 SLC25A4 SLC5A7 SLC6A8

SMCHD1 SNAP25 SPEG STAC3 STIM1 SUCLA2 SYNE1

SYNE2 SYT2 TBCE TCAP TIA1 TMEM43 TMEM5

TNNI2 TNNT1 TNNT3 TNPO3 TOR1AIP1 TPM2 TPM3

TRAPPC11 TRDN TRIM32 TRIP4 TTN TUBB3 VIPAS39

VMA21 VPS33B YARS2 ZBTB42

Zhong H, et al. J Med Genet 2020;0:1–8. doi: 10.1136/jmedgenet-2020-107159