|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
|
NM_004608.4(TBX6):c.356G>A (p.Arg119His)
|
rs200175825
|
0.00007
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_000054.7(AVPR2):c.809_810del (p.Val270fs)
|
rs2064966689
|
|
|
NM_000057.4(BLM):c.[1544dup;2468del]
|
|
|
|
NM_000057.4(BLM):c.[2265_2268dup;2441T>A]
|
|
|
|
NM_000057.4(BLM):c.[289C>T;649C>T]
|
|
|
|
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)
|
rs1601054715
|
|
|
NM_000124.4(ERCC6):c.[1727C>G;1834C>T]
|
|
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
|
NM_000138.5(FBN1):c.2613A>C (p.Leu871Phe)
|
rs770290542
|
|
|
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter)
|
rs1597568822
|
|
|
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs)
|
rs1566891406
|
|
|
NM_000138.5(FBN1):c.8275_8291del (p.Glu2759fs)
|
rs1566888718
|
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
|
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)
|
rs770573978
|
|
|
NM_000444.6(PHEX):c.613del (p.Arg205fs)
|
rs1929214770
|
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
|
NM_000486.6(AQP2):c.3G>T (p.Met1Ile)
|
rs1288385043
|
|
|
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)
|
rs2066877587
|
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
|
NM_001042492.3(NF1):c.61-2A>C
|
rs1131691100
|
|
|
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)
|
rs2070073649
|
|
|
NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs)
|
rs2042123799
|
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
|
NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs)
|
rs1950551811
|
|
|
NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter)
|
rs1896882552
|
|
|
NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs)
|
rs1896883106
|
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
|
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)
|
rs1794583960
|
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
|
NM_003560.4(PLA2G6):c.[2356G>A;668C>A]
|
|
|
|
NM_003611.3(OFD1):c.2289dup (p.Ser764fs)
|
rs2047910158
|
|
|
NM_003849.4(SUCLG1):c.[460C>T;987dup]
|
|
|
|
NM_003982.4(SLC7A7):c.[1228C>T;1387del]
|
|
|
|
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)
|
rs398124074
|
|
|
NM_004260.4(RECQL4):c.[1724_1725del;691G>A]
|
|
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
|
NM_004608.4(TBX6):c.418C>T (p.Leu140Phe)
|
rs1596853085
|
|
|
NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly)
|
rs1596852902
|
|
|
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)
|
rs1553178399
|
|
|
NM_006565.4(CTCF):c.329dup (p.Gly111fs)
|
rs2052056650
|
|
|
NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)
|
rs2053169420
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
|
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs)
|
rs772267579
|
|
|
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)
|
rs2034272227
|
|
|
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)
|
rs1555196298
|
|
|
NM_014780.5(CUL7):c.[2164C>T;4911dup]
|
|
|
|
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
|
|
|
|
NM_015311.3(OBSL1):c.[1273dup;836G>A]
|
|
|
|
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
|
|
|
|
NM_022455.5(NSD1):c.5509+1G>A
|
rs1757808917
|
|
|
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]
|
|
|
|
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)
|
rs1555556099
|
|
|
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
|
|
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
|
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)
|
rs2061661681
|
|