|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
|
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)
|
rs767539005
|
0.00006
|
|
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)
|
rs193204571
|
0.00004
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
0.00003
|
|
NM_014334.4(FRRS1L):c.622C>T (p.Arg208Cys)
|
rs955397173
|
0.00002
|
|
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)
|
rs80338755
|
0.00001
|
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
|
NM_000536.4(RAG2):c.1321C>A (p.Pro441Thr)
|
rs1336343565
|
0.00001
|
|
NM_001031689.3(PLAA):c.1487-1G>A
|
rs1426488816
|
0.00001
|
|
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)
|
rs796053037
|
0.00001
|
|
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)
|
rs185476065
|
0.00001
|
|
NM_006567.5(FARS2):c.1256G>A (p.Arg419His)
|
rs202183509
|
0.00001
|
|
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)
|
rs756394857
|
0.00001
|
|
NC_012920.1(MT-ND1):m.3685T>C
|
rs1603219079
|
|
|
NM_000088.4(COL1A1):c.3099+2T>A
|
rs1555572315
|
|
|
NM_000206.3(IL2RG):c.326_340del (p.Glu109_Ser113del)
|
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
|
NM_000533.5(PLP1):c.548C>A (p.Thr183Asn)
|
rs2147766068
|
|
|
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_000702.4(ATP1A2):c.2552A>G (p.Tyr851Cys)
|
|
|
|
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
|
|
|
|
NM_001079668.3(NKX2-1):c.634_639del (p.Gln212_Gln213del)
|
|
|
|
NM_001089.3(ABCA3):c.614-2A>G
|
rs773223403
|
|
|
NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)
|
rs1569508922
|
|
|
NM_001128840.3(CACNA1D):c.1201G>C (p.Val401Leu)
|
|
|
|
NM_001148.6(ANK2):c.1417C>T (p.Arg473Ter)
|
|
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
|
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter)
|
rs1060501488
|
|
|
NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)
|
rs886041287
|
|
|
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter)
|
rs1567744830
|
|
|
NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)
|
rs1563221666
|
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
|
NM_001365999.1(SZT2):c.5025-2A>G
|
rs1557569831
|
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
|
NM_001369369.1(FOXN1):c.1247del (p.Pro416fs)
|
rs1567886959
|
|
|
NM_001376.5(DYNC1H1):c.2161G>A (p.Glu721Lys)
|
rs2141274951
|
|
|
NM_001379110.1(SLC9A6):c.1662-19_1662-3del
|
rs1569525894
|
|
|
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)
|
rs80356504
|
|
|
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
|
|
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
|
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu)
|
rs2082424831
|
|
|
NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser)
|
rs786204795
|
|
|
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)
|
rs1555908409
|
|
|
NM_003042.4(SLC6A1):c.593A>C (p.His198Pro)
|
|
|
|
NM_003126.4(SPTA1):c.7132C>T (p.Gln2378Ter)
|
rs1064795113
|
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
|
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)
|
rs1172486173
|
|
|
NM_005215.4(DCC):c.1667del (p.Gly556fs)
|
rs1568364038
|
|
|
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly)
|
|
|
|
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg)
|
rs1553826184
|
|
|
NM_006593.4(TBR1):c.1237G>C (p.Asp413His)
|
|
|
|
NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu)
|
rs1564365418
|
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
|
NM_014159.7(SETD2):c.5152G>A (p.Glu1718Lys)
|
|
|
|
NM_014334.4(FRRS1L):c.552_561del (p.Ile185fs)
|
|
|
|
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)
|
rs1364971527
|
|
|
NM_014362.4(HIBCH):c.458A>G (p.His153Arg)
|
|
|
|
NM_014727.3(KMT2B):c.7884del (p.Tyr2629fs)
|
|
|
|
NM_015261.3(NCAPD3):c.3058C>T (p.Arg1020Ter)
|
|
|
|
NM_015909.4(NBAS):c.6966_6969delinsTC (p.Gln2322fs)
|
|
|
|
NM_017934.7(PHIP):c.428dup (p.Pro144fs)
|
|
|
|
NM_018684.4(ZC4H2):c.561+1G>A
|
|
|
|
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)
|
rs1558027212
|
|
|
NM_022455.5(NSD1):c.5629C>T (p.Arg1877Cys)
|
|
|
|
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)
|
rs398124380
|
|
|
NM_022893.4(BCL11A):c.152G>C (p.Cys51Ser)
|
rs1558519731
|
|
|
NM_032620.4(GTPBP3):c.628G>A (p.Glu210Lys)
|
|
|
|
NM_130797.4(DPP6):c.157_184del (p.Pro53fs)
|
rs2129062565
|
|
|
NM_198947.4(FAM111B):c.1462del (p.Cys488fs)
|
rs1565191262
|
|