|
NM_001072.4(UGT1A6):c.862-10021T>G
|
rs4124874
|
0.56024
|
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
|
NM_001321967.2(ATAD1):c.121A>G (p.Ile41Val)
|
rs778681381
|
0.00011
|
|
NM_025137.4(SPG11):c.44G>A (p.Gly15Asp)
|
rs763155228
|
0.00011
|
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
|
NM_006567.5(FARS2):c.1009G>A (p.Glu337Lys)
|
rs779793214
|
0.00006
|
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
|
GRCh37/hg19 17q11.2(chr17:29000019-30416429)
|
|
|
|
NM_000069.3(CACNA1S):c.259-2del
|
|
|
|
NM_000142.5(FGFR3):c.2081C>T (p.Pro694Leu)
|
|
|
|
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
|
|
|
|
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
|
|
|
|
NM_000155.4(GALT):c.820+2T>C
|
|
|
|
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
|
|
|
|
NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)
|
|
|
|
NM_000314.8(PTEN):c.475delinsCTT (p.Arg159fs)
|
|
|
|
NM_000426.4(LAMA2):c.5235-1G>A
|
rs1779406142
|
|
|
NM_000481.4(AMT):c.999_1000del (p.His333fs)
|
|
|
|
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)
|
rs1554682769
|
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
|
NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)
|
|
|
|
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)
|
rs121434559
|
|
|
NM_001042424.3(NSD2):c.3716_3717del (p.Glu1239fs)
|
|
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
|
NM_001130987.2(DYSF):c.3756+6T>A
|
|
|
|
NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)
|
|
|
|
NM_001267550.2(TTN):c.84299C>T (p.Thr28100Ile)
|
|
|
|
NM_001365902.3(NFIX):c.195dup (p.Glu66fs)
|
|
|
|
NM_001365951.3(KIF1B):c.2115+5957C>T
|
|
|
|
NM_001379029.1(CERT1):c.1367A>G (p.His456Arg)
|
|
|
|
NM_001379659.1(ZNF142):c.5194+1G>C
|
|
|
|
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
|
|
|
|
NM_001846.4(COL4A2):c.3369G>C (p.Glu1123Asp)
|
|
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
|
|
NM_002641.4(PIGA):c.1031T>G (p.Leu344Arg)
|
|
|
|
NM_002816.5(PSMD12):c.333T>A (p.Tyr111Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
|
|
|
|
NM_002880.4(RAF1):c.1A>G (p.Met1Val)
|
rs2125453796
|
|
|
NM_002880.4(RAF1):c.834+662G>T
|
|
|
|
NM_003051.4(SLC16A1):c.937C>T (p.Arg313Ter)
|
rs606231299
|
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
|
NM_003060.4(SLC22A5):c.503G>C (p.Gly168Ala)
|
|
|
|
NM_003590.5(CUL3):c.1374_1377dup (p.Thr460fs)
|
|
|
|
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)
|
rs121913378
|
|
|
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
|
|
|
|
NM_006302.3(MOGS):c.2305T>C (p.Tyr769His)
|
|
|
|
NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter)
|
|
|
|
NM_006662.3(SRCAP):c.3628C>T (p.Gln1210Ter)
|
|
|
|
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
|
|
|
|
NM_015021.3(ZNF292):c.2360G>A (p.Gly787Glu)
|
|
|
|
NM_015135.3(NUP205):c.2068G>A (p.Glu690Lys)
|
|
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
|
NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs)
|
|
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
|
NM_020706.2(SCAF4):c.2209+1G>T
|
|
|
|
NM_024105.4(ALG12):c.768+1dup
|
|
|
|
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
|
|
|
|
NM_025191.4(EDEM3):c.1090del (p.Asp364fs)
|
|
|
|
NM_032578.4(MYPN):c.55_56del (p.Ser19fs)
|
|
|
|
NM_033419.5(PGAP3):c.896dup (p.Ser300fs)
|
|
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
|
NM_181882.3(PRX):c.2581del (p.Leu861fs)
|
rs2145728259
|
|
|
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
|
|
|