NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile)
|
rs138313730
|
0.00123
|
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr)
|
rs33932559
|
0.00103
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
|
rs118163237
|
0.00074
|
NM_052872.4(IL17F):c.254+1G>T
|
rs117796773
|
0.00070
|
NM_001486.4(GCKR):c.230A>G (p.Glu77Gly)
|
rs8179206
|
0.00069
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_178857.6(RP1L1):c.324_325insT (p.Pro109fs)
|
rs138816053
|
0.00057
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
|
rs77688767
|
0.00043
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln)
|
rs147859619
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)
|
rs140184929
|
0.00013
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000133.4(F9):c.769G>A (p.Val257Ile)
|
rs200608775
|
0.00010
|
NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys)
|
rs138014548
|
0.00010
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)
|
rs201043592
|
0.00004
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs)
|
rs765535147
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|