|
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val)
|
rs757932120
|
0.00005
|
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
|
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys)
|
rs754382673
|
0.00001
|
|
NM_000124.4(ERCC6):c.22del (p.His8fs)
|
|
|
|
NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)
|
rs1850765501
|
|
|
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
|
|
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
|
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)
|
rs547818652
|
|
|
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)
|
rs1447023449
|
|
|
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)
|
|
|
|
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)
|
rs2126780758
|
|
|
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val)
|
rs1162207835
|
|
|
NM_000492.4(CFTR):c.1825C>T (p.His609Tyr)
|
rs2116030305
|
|
|
NM_000492.4(CFTR):c.2994del (p.Leu998fs)
|
rs749963273
|
|
|
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
|
|
|
|
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
|
|
|
|
NM_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs)
|
rs2148627334
|
|
|
NM_001083961.2(WDR62):c.897del (p.Cys300fs)
|
|
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
|
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
|
|
|
|
NM_001287.6(CLCN7):c.1448-2A>G
|
|
|
|
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro)
|
rs1182312612
|
|
|
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
|
|
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
|
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe)
|
rs2135078204
|
|
|
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)
|
rs761347066
|
|
|
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs)
|
rs1590819834
|
|
|
NM_006019.4(TCIRG1):c.553del (p.Leu185fs)
|
rs1855280375
|
|
|
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
|
|
|
|
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)
|
rs746506432
|
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
|
NM_014687.4(RUBCN):c.1847+2T>G
|
|
|
|
NM_014780.5(CUL7):c.3247del (p.Gln1083fs)
|
rs1763636120
|
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
|
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)
|
rs773729617
|
|
|
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
|
|
|
|
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
|
|
|
|
NM_017825.3(ADPRS):c.166C>T (p.Gln56Ter)
|
|
|
|
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
|
|
|
|
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp)
|
rs2151848449
|
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
|
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
|
|
|
|
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)
|
rs2122631661
|
|
|
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
|
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
|
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
|
|
|
|
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
|
|
|
|
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
|
|
|
|
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)
|
rs2122219712
|
|
|
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)
|
rs953404925
|
|
|
NM_194292.3(SASS6):c.1057-6_1057-2del
|
|
|
|
NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter)
|
|
|
|
NR_003051.4(RMRP):n.223G>T
|
|
|