NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)
|
rs200731870
|
0.00004
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)
|
rs373135339
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)
|
rs1023807527
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.255-2A>G
|
rs1220650950
|
0.00001
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.1849del (p.Asp617fs)
|
rs755531536
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)
|
rs555445835
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
|
|
|
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
|
|
|
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
|
|
|
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
|
|
|
NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)
|
rs764623179
|
|
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)
|
rs267606859
|
|
NM_000183.3(HADHB):c.811+1G>A
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
|
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
|
|
|
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)
|
rs121909521
|
|
NM_001164508.2(NEB):c.1035+1G>A
|
|
|
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
|
|
|
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
|
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.14827-2A>C
|
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)
|
rs1559952676
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.21141del (p.Ile7047fs)
|
rs2093339890
|
|
NM_001164508.2(NEB):c.2310+5G>A
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
|
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter)
|
rs779173742
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)
|
rs2061721973
|
|
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)
|
rs1266535163
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs)
|
rs747564597
|
|
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)
|
rs1344099907
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)
|
rs763364977
|
|
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)
|
rs755863625
|
|
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)
|
rs776059611
|
|
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)
|
rs2152822941
|
|
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)
|
rs767709270
|
|
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)
|
rs760200697
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.734del (p.Gly245fs)
|
rs1559573882
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
|
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)
|
rs2154198430
|
|
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
|
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
|
|
|
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
|
|
|
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
|
|
|
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
|
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
|
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
|
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
|
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020451.3(SELENON):c.9_33del (p.Ala4fs)
|
rs886041619
|
|
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
|
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)
|
|
|
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
|
|
|
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)
|
|
|
NM_178554.6(KY):c.481C>T (p.Gln161Ter)
|
|
|