NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)
|
rs375628463
|
0.00009
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_000169.3(GLA):c.124A>C (p.Met42Leu)
|
rs797044613
|
0.00001
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu)
|
rs1064794979
|
|
NM_001011.4(RPS7):c.-19+1G>A
|
rs1064796859
|
|
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)
|
rs1064793294
|
|
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
|
|
|
NM_001042424.3(NSD2):c.619del (p.Cys207fs)
|
rs1717589360
|
|
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs)
|
rs2062114611
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001163435.3(TBCK):c.2143C>T (p.Gln715Ter)
|
rs1750958862
|
|
NM_001197104.2(KMT2A):c.7144C>T (p.Arg2382Ter)
|
rs387907275
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs)
|
rs2053150009
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
|
|
NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs)
|
rs2019488878
|
|
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs)
|
rs1289149988
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001378120.1(MBD5):c.4946del (p.Ser1649fs)
|
|
|
NM_001904.4(CTNNB1):c.1683+1del
|
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_003091.4(SNRPB):c.155+301G>C
|
rs786201019
|
|
NM_003106.4(SOX2):c.87_96dup (p.Asn33fs)
|
rs1714839412
|
|
NM_003470.3(USP7):c.1722del (p.Gln574fs)
|
|
|
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)
|
rs1057517992
|
|
NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs)
|
|
|
NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter)
|
rs727503983
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)
|
|
|
NM_005859.5(PURA):c.703del (p.Val235fs)
|
rs1763053563
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
|
|
|
NM_015100.4(POGZ):c.3360dup (p.Met1121fs)
|
rs1653455584
|
|
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
|
|
|
NM_015443.4(KANSL1):c.2591del (p.Asn864fs)
|
rs2077088526
|
|
NM_017934.7(PHIP):c.2T>C (p.Met1Thr)
|
rs1774283406
|
|
NM_021224.6(ZNF462):c.6068_6072del (p.Asp2023fs)
|
rs1830464621
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter)
|
rs1841773052
|
|
NM_024496.4(IRF2BPL):c.248_293delinsCCCGG (p.Leu83fs)
|
rs1885185522
|
|
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)
|
rs1816565452
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met)
|
rs869312892
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_182641.4(BPTF):c.52_61del (p.Glu18fs)
|
rs2055932118
|
|
NM_207037.2(TCF12):c.826-2A>G
|
rs2151925569
|
|