NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu)
|
rs71647871
|
0.00998
|
Single allele
|
rs114666055
|
0.00493
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)
|
rs72648273
|
0.00253
|
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)
|
rs199895260
|
0.00243
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)
|
rs72646873
|
0.00195
|
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His)
|
rs147919567
|
0.00147
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)
|
rs72646808
|
0.00118
|
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)
|
rs200212521
|
0.00117
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521
|
0.00111
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile)
|
rs138952094
|
0.00076
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr)
|
rs139486133
|
0.00056
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly)
|
rs56391938
|
0.00051
|
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)
|
rs143292359
|
0.00051
|
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly)
|
rs142818468
|
0.00048
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile)
|
rs182683829
|
0.00026
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)
|
rs187868672
|
0.00016
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_003504.5(CDC45):c.1416C>T (p.His472=)
|
rs190155337
|
0.00014
|
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888
|
0.00014
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile)
|
rs202219398
|
0.00012
|
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr)
|
rs72648215
|
0.00010
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His)
|
rs199663911
|
0.00006
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)
|
rs371322658
|
0.00004
|
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)
|
rs375565646
|
0.00004
|
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His)
|
rs750969198
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099
|
0.00001
|
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)
|
rs755305281
|
0.00001
|
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His)
|
rs765512476
|
0.00001
|
NM_000094.4(COL7A1):c.6181-4del
|
rs2044209233
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)
|
rs146887252
|
|