NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)
|
rs34004222
|
0.00274
|
NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)
|
rs201284617
|
0.00236
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)
|
rs200735885
|
0.00161
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)
|
rs79436363
|
0.00015
|
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)
|
rs752659088
|
0.00006
|
NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)
|
rs753221661
|
0.00006
|
NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)
|
rs765305996
|
0.00004
|
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
|
rs201780665
|
0.00004
|
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)
|
rs150291837
|
0.00003
|
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)
|
rs368631447
|
0.00003
|
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)
|
rs371011047
|
0.00003
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)
|
rs780404339
|
0.00001
|
NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys)
|
rs1064793399
|
0.00001
|
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter)
|
rs753579827
|
0.00001
|
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=)
|
rs764926983
|
0.00001
|
NM_001377.3(DYNC2H1):c.6478-16G>A
|
rs376892534
|
0.00001
|
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
|
rs121918056
|
0.00001
|
NM_006767.4(LZTR1):c.1146G>A (p.Ser382=)
|
rs751444145
|
0.00001
|
NM_014694.4(ADAMTSL2):c.-151+2T>C
|
rs1432091144
|
0.00001
|
NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys)
|
rs1166449446
|
0.00001
|
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter)
|
rs762771340
|
0.00001
|
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)
|
rs978909925
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.3758G>A (p.Cys1253Tyr)
|
rs750716949
|
0.00001
|
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)
|
rs1247231925
|
0.00001
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
NM_153717.3(EVC):c.175-9G>A
|
rs753317536
|
0.00001
|
NC_000001.10:g.85569702_85585573del
|
|
|
NC_000002.11:g.165492423_165973543dup
|
|
|
NC_000002.11:g.166679228_166818452inv
|
|
|
NC_000002.11:g.39053852_42501893dup
|
|
|
NC_000003.12:g.36993510_36999509del
|
|
|
NC_000005.10:g.55247753A>G
|
rs1579734448
|
|
NC_000005.9:g.136320037_136380192dup
|
|
|
NC_000005.9:g.53180658_54552379dup
|
|
|
NC_000007.13:g.30439214_30632407dup
|
|
|
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
|
|
|
NC_000008.11:g.38463238_38470748del
|
|
|
NC_000009.11:g.6558199_6619973dup
|
|
|
NC_000010.10:g.102928083_103377947dup
|
|
|
NC_000011.10:g.65259530_65263529del
|
|
|
NC_000016.10:g.86072090_86072129dup
|
rs1567518954
|
|
NC_000017.11:g.17234906_17243014del
|
|
|
NC_000018.9:g.67742689_67765169dup
|
|
|
NC_000019.9:g.1406030_3597207dup
|
|
|
NC_000020.10:g.157772_706326dup
|
|
|
NC_000023.11:g.86041956_86048370inv
|
|
|
NM_000059.4(BRCA2):c.68-352_317-1637del
|
|
|
NM_000089.4(COL1A2):c.487-183_594+240del
|
|
|
NM_000280.4:c.1267A>T
|
|
|
NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg)
|
rs1570980551
|
|
NM_000977.4(RPL13):c.477+1G>A
|
rs1597675888
|
|
NM_000977.4(RPL13):c.548G>A (p.Arg183His)
|
rs1597676540
|
|
NM_000977.4(RPL13):c.569G>T (p.Arg190Leu)
|
rs374646539
|
|
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)
|
rs1555349214
|
|
NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]
|
|
|
NM_001080463.1(DYNC2H1):c.[12602C>T;9865G>A]
|
|
|
NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)
|
|
|
NM_001163435.3(TBCK):c.658+1G>A
|
rs1579395680
|
|
NM_001167740.2(SMYD3):c.814-5812_814-3813del
|
|
|
NM_001270454.2(WWP2):c.1683-866A>G
|
rs1567443039
|
|
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs)
|
rs1566883760
|
|
NM_001353108.3(CEP63):c.595del (p.Glu199fs)
|
rs2109591981
|
|
NM_001377.3(DYNC2H1):c.10001C>G (p.Pro3334Arg)
|
rs1565426918
|
|
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter)
|
rs1565317399
|
|
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter)
|
rs1260978141
|
|
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs)
|
rs765454943
|
|
NM_001377.3(DYNC2H1):c.2574+1G>A
|
rs1565329461
|
|
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs)
|
rs767846762
|
|
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val)
|
rs1565368733
|
|
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)
|
rs431905498
|
|
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)
|
rs747348765
|
|
NM_001377.3(DYNC2H1):c.7129T>G (p.Phe2377Val)
|
rs1565379048
|
|
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter)
|
rs1565311145
|
|
NM_001377.3(DYNC2H1):c.7919T>C (p.Ile2640Thr)
|
rs1265669915
|
|
NM_001377.3(DYNC2H1):c.8003T>G (p.Val2668Gly)
|
rs764468030
|
|
NM_001377.3(DYNC2H1):c.8444G>A (p.Ser2815Asn)
|
rs1565394254
|
|
NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
rs193922929
|
|
NM_001378454.1(ALMS1):c.7313C>A (p.Ser2438Ter)
|
rs1558651680
|
|
NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)
|
rs762408881
|
|
NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)
|
rs1555303073
|
|
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter)
|
rs1580817729
|
|
NM_002381.5(MATN3):c.224-2153_1168+903dup
|
|
|
NM_002508.3(NID1):c.2129-2427_2405-658del
|
|
|
NM_002689.4(POLA2):c.1271C>T (p.Pro424Leu)
|
|
|
NM_002689.4(POLA2):c.287T>C (p.Ile96Thr)
|
|
|
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)
|
rs121918641
|
|
NM_003126.4:c.47854delG
|
|
|
NM_004035.7(ACOX1):c.1729-1G>A
|
rs566377861
|
|
NM_004826.4(ECEL1):c.2228G>T (p.Arg743Met)
|
rs1575074612
|
|
NM_005260.7(GDF9):c.-616_-142dup
|
rs1581252159
|
|
NM_006493.4:c.679C>T
|
|
|
NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe)
|
rs760064852
|
|
NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp)
|
rs1594291868
|
|
NM_007129.5:c.264T>G
|
|
|
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs)
|
rs1597454239
|
|
NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)
|
|
|
NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)
|
|
|
NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His)
|
rs1831023991
|
|
NM_014694.4(ADAMTSL2):c.1998C>G (p.Cys666Trp)
|
|
|
NM_014694.4(ADAMTSL2):c.2137T>C (p.Cys713Arg)
|
|
|
NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)
|
|
|
NM_014694.4(ADAMTSL2):c.2626C>G (p.Arg876Gly)
|
|
|
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)
|
rs113994122
|
|
NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)
|
|
|
NM_014694.4(ADAMTSL2):c.502G>A (p.Gly168Ser)
|
|
|
NM_014694.4(ADAMTSL2):c.718C>T (p.Arg240Ter)
|
|
|
NM_014694.4(ADAMTSL2):c.800G>T (p.Gly267Val)
|
|
|
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs)
|
rs1555531363
|
|
NM_015215.4(CAMTA1):c.511-18459_511-15460del
|
|
|
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His)
|
rs1559369181
|
|
NM_015681.6(B9D1):c.285_341+154del
|
rs1598057395
|
|
NM_015681.6(B9D1):c.467G>C (p.Arg156Pro)
|
rs886038205
|
|
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
|
|
|
NM_022114.4(PRDM16):c.439-11715_439-4716del
|
|
|
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys)
|
rs1581535605
|
|
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
|
|
|
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs)
|
rs747165335
|
|
NM_025132.4(WDR19):c.974T>C (p.Leu325Ser)
|
rs1193255568
|
|
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
|
|
|
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
|
|
|
NM_033109.5(PNPT1):c.420del (p.Leu141fs)
|
rs1572834021
|
|
NM_033109.5:c.652A>T
|
|
|
NM_057157.2:c.1184T>C
|
|
|
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp)
|
rs1560228138
|
|
NM_152269.5(MTRFR):c.-28-1489_283-968del
|
|
|
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)
|
rs778139192
|
|
Single allele
|
|
|