NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu)
|
rs752509098
|
0.00005
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_144596.4(TTC8):c.489G>A (p.Thr163=)
|
rs119103286
|
0.00004
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00002
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_013382.7(POMT2):c.1364G>A (p.Arg455Gln)
|
rs757110456
|
0.00002
|
NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)
|
rs750346960
|
0.00002
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)
|
rs397508476
|
0.00001
|
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)
|
rs758210528
|
0.00001
|
NM_005807.6(PRG4):c.1910_1911del (p.Pro637fs)
|
rs780281715
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014425.5(INVS):c.796+5G>A
|
rs1272619479
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)
|
rs748090019
|
0.00001
|
NM_147127.5(EVC2):c.2056dup (p.Gln686fs)
|
rs1265421045
|
0.00001
|
GRCh38/hg38 2q13(chr2:110091573-110205023)
|
|
|
GRCh38/hg38 2q13(chr2:110091573-110212811)
|
|
|
NC_000007.14:g.26263639_26335651delinsCA
|
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
NM_000019.4(ACAT1):c.731-2A>G
|
rs752216720
|
|
NM_000070.3(CAPN3):c.2217C>G (p.Ser739=)
|
rs148851444
|
|
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)
|
rs868791726
|
|
NM_000070.3(CAPN3):c.2309A>G (p.Tyr770Cys)
|
rs2141225644
|
|
NM_000070.3(CAPN3):c.2439+1G>T
|
|
|
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter)
|
rs1749618632
|
|
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp)
|
rs2144563979
|
|
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)
|
rs2141317422
|
|
NM_000138.5:c.(1468+1_1469-1)_(1837+1_1838-1)del
|
|
|
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg)
|
rs121918488
|
|
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr)
|
rs2106933976
|
|
NM_000161.3(GCH1):c.644T>C (p.Met215Thr)
|
rs2140038918
|
|
NM_000163.5(GHR):c.267-1155_333del
|
|
|
NM_000163.5(GHR):c.70+5G>A
|
rs2112477601
|
|
NM_000232.5(SGCB):c.3G>T (p.Met1Ile)
|
rs2109380946
|
|
NM_000277.3(PAH):c.210del (p.Arg71fs)
|
rs2136701994
|
|
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
|
|
|
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)
|
rs2126702600
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2848del (p.His950fs)
|
rs2116062196
|
|
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)
|
rs146521846
|
|
NM_001017420.3(ESCO2):c.1673+1G>A
|
rs2128957692
|
|
NM_001083961.2(WDR62):c.659A>G (p.His220Arg)
|
rs2145586826
|
|
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys)
|
rs2128312068
|
|
NM_001127649.3(PEX26):c.34del (p.Leu12fs)
|
rs61752129
|
|
NM_001128178.3(NPHP1):c.1352+5G>A
|
rs1681080526
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.5621del (p.Met1874fs)
|
rs2152956005
|
|
NM_001160372.4(TRAPPC9):c.2699+1G>A
|
rs2131922149
|
|
NM_001205254.2(OCLN):c.52_891del (p.Lys18_Trp297del)
|
|
|
NM_001242882.2(NAXD):c.54_57del (p.Ala20fs)
|
rs773887880
|
|
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
|
|
|
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
|
|
|
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
|
|
|
NM_001371596.2(MFSD8):c.699-1G>A
|
rs1739594685
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001395413.1(POR):c.1477T>C (p.Trp493Arg)
|
rs2116630442
|
|
NM_002470.4(MYH3):c.4111C>T (p.Gln1371Ter)
|
|
|
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
|
|
|
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)
|
rs1473197986
|
|
NM_003839.4(TNFRSF11A):c.239G>A (p.Trp80Ter)
|
|
|
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)
|
rs375759781
|
|
NM_004426.3(PHC1):c.100C>T (p.Arg34Ter)
|
rs2137054010
|
|
NM_004813.4(PEX16):c.952+3A>G
|
|
|
NM_005522.5(HOXA1):c.669C>A (p.Tyr223Ter)
|
rs769512832
|
|
NM_005529.7(HSPG2):c.4220A>G (p.Lys1407Arg)
|
|
|
NM_005807.6(PRG4):c.1134dup (p.Lys379fs)
|
|
|
NM_005807.6(PRG4):c.1699del (p.Glu567fs)
|
|
|
NM_005807.6(PRG4):c.1935del (p.Glu646fs)
|
rs2102025845
|
|
NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)
|
|
|
NM_005807.6(PRG4):c.3636G>T (p.Lys1212Asn)
|
rs1657192119
|
|
NM_005807.6(PRG4):c.962T>A (p.Leu321Ter)
|
rs2102020754
|
|
NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)
|
rs2145048931
|
|
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter)
|
rs1156299579
|
|
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs)
|
rs1565156743
|
|
NM_006432.5(NPC2):c.297C>G (p.Cys99Trp)
|
rs2086687936
|
|
NM_006846.4(SPINK5):c.1010+7A>G
|
rs2113105960
|
|
NM_012233.3(RAB3GAP1):c.2290-17_2290del
|
|
|
NM_014797.3(ZBTB24):c.953-2A>G
|
|
|
NM_015189.1:c.2122+15447_2197-59588del
|
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)
|
rs752401295
|
|
NM_015311.3(OBSL1):c.[1273dup];[35dup]
|
|
|
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)
|
rs1401777461
|
|
NM_016058.5(TPRKB):c.89GAA[1] (p.Arg31del)
|
rs2103862688
|
|
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
|
|
|
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs)
|
rs1557733597
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)
|
rs387906833
|
|
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)
|
rs1389599028
|
|
NM_025074.7(FRAS1):c.3293-2A>T
|
rs2110319166
|
|
NM_032119.4(ADGRV1):c.1608C>G (p.Tyr536Ter)
|
rs1561416879
|
|
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)
|
rs78635798
|
|
NM_032193.4(RNASEH2C):c.398G>A (p.Gly133Asp)
|
rs2135652409
|
|
NM_033629.6(TREX1):c.554G>C (p.Arg185Pro)
|
|
|
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)
|
rs2144135649
|
|
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro)
|
rs1485073209
|
|
NM_144596.4(TTC8):c.265+5G>A
|
rs2094770219
|
|
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)
|
rs886041062
|
|
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
|
|
|
NM_147127.5(EVC2):c.1639del (p.Ser547fs)
|
rs2108851441
|
|
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter)
|
rs1730760070
|
|
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys)
|
rs201128942
|
|
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs)
|
rs2118054723
|
|
NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter)
|
rs2134706418
|
|
NM_203486.3(DLL3):c.871-1G>A
|
rs2144761828
|
|