NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu)
|
rs2228106
|
0.00282
|
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
|
rs11569541
|
0.00226
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile)
|
rs146597836
|
0.00156
|
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)
|
rs145709687
|
0.00152
|
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln)
|
rs147415774
|
0.00145
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_001267550.2(TTN):c.2775+4G>A
|
rs548681281
|
0.00086
|
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)
|
rs148410446
|
0.00085
|
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg)
|
rs150101848
|
0.00083
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_032415.7(CARD11):c.3145-3C>T
|
rs200456391
|
0.00077
|
NM_003239.5(TGFB3):c.646+13T>C
|
rs780891440
|
0.00076
|
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile)
|
rs56080897
|
0.00070
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)
|
rs191531119
|
0.00059
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile)
|
rs145057248
|
0.00035
|
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys)
|
rs201025468
|
0.00031
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_001375808.2(LPIN2):c.1168+6C>T
|
rs200130790
|
0.00024
|
NM_004006.3(DMD):c.1337A>G (p.His446Arg)
|
rs72468699
|
0.00023
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met)
|
rs201780608
|
0.00021
|
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)
|
rs56015306
|
0.00020
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr)
|
rs201302282
|
0.00016
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_017999.5(RNF31):c.3048C>T (p.Asp1016=)
|
rs377298249
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)
|
rs375025242
|
0.00011
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)
|
rs730880212
|
0.00009
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
|
rs185980145
|
0.00006
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=)
|
rs140246538
|
0.00005
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)
|
rs148551147
|
0.00004
|
NM_000257.4(MYH7):c.1632C>T (p.Thr544=)
|
rs587781089
|
0.00003
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
NM_052813.5(CARD9):c.1341C>T (p.Thr447=)
|
rs774391206
|
0.00002
|
NM_000095.3(COMP):c.1563G>A (p.Pro521=)
|
rs756075225
|
0.00001
|
NM_000138.5(FBN1):c.2127A>C (p.Ala709=)
|
rs886038990
|
0.00001
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
NM_000501.4(ELN):c.1622-6C>T
|
rs1280128851
|
0.00001
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu)
|
rs1489240592
|
0.00001
|
NM_000090.4(COL3A1):c.2445+19A>G
|
rs776819930
|
|
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=)
|
rs776564144
|
|
NM_000138.5(FBN1):c.2539+10T>A
|
rs878853679
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000238.4(KCNH2):c.2692+8G>A
|
rs200032281
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)
|
rs730880049
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala)
|
rs1271505111
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu)
|
rs138537887
|
|
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)
|
rs79943145
|
|
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)
|
rs754312950
|
|
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter)
|
rs140825693
|
|
NM_017617.5(NOTCH1):c.3172-5C>T
|
rs762077987
|
|
NM_198334.3(GANAB):c.253-4G>T
|
rs202154028
|
|