NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)
|
rs114970039
|
0.00025
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001278116.2(L1CAM):c.1124-6_1124-3dup
|
rs782713149
|
0.00007
|
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys)
|
rs373369949
|
0.00007
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001701.4(BAAT):c.761C>T (p.Thr254Met)
|
rs768526453
|
0.00006
|
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys)
|
rs786205473
|
0.00005
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
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_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp)
|
rs369162678
|
0.00004
|
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)
|
rs751931568
|
0.00004
|
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn)
|
rs776996552
|
0.00002
|
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His)
|
rs760107623
|
0.00002
|
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln)
|
rs770045008
|
0.00002
|
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys)
|
rs144045461
|
0.00002
|
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter)
|
rs377074720
|
0.00002
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr)
|
rs369108107
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr)
|
rs786205539
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn)
|
rs786205497
|
0.00001
|
NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
|
rs529829552
|
0.00001
|
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)
|
rs757094189
|
0.00001
|
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys)
|
rs786205461
|
0.00001
|
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)
|
rs760889253
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr)
|
rs786205579
|
|
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)
|
rs786205465
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val)
|
rs587783104
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr)
|
rs797044566
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_003358.3(UGCG):c.142dup (p.Ser48fs)
|
rs2118539976
|
|
NM_004006.3(DMD):c.3922-3C>T
|
rs786205603
|
|
NM_004281.4(BAG3):c.1630G>C (p.Asp544His)
|
rs786205466
|
|
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser)
|
rs786205462
|
|
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)
|
rs542568224
|
|
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)
|
rs757778790
|
|
NM_019108.4(SMG9):c.701+4A>G
|
rs869312742
|
|
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del)
|
rs786205612
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe)
|
rs786205457
|
|
Single allele
|
rs1553281318
|
|