NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)
|
rs145360423
|
0.00054
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro)
|
rs146195955
|
0.00033
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_033419.5(PGAP3):c.558-10G>A
|
rs200598755
|
0.00009
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)
|
rs121918293
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_005144.5(HR):c.2776+1G>A
|
rs773764015
|
0.00003
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_015214.3(DDHD2):c.1546C>T (p.Arg516Ter)
|
rs373856119
|
0.00002
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)
|
rs104893764
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)
|
rs138914144
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)
|
rs267607016
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)
|
rs753621591
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_015294.6(TRIM37):c.181C>T (p.Arg61Ter)
|
rs373520509
|
0.00001
|
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)
|
rs1381427322
|
0.00001
|
NM_022041.4(GAN):c.601C>T (p.Arg201Ter)
|
rs119485090
|
0.00001
|
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys)
|
rs778479139
|
0.00001
|
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)
|
rs201623252
|
0.00001
|
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer)
|
rs1560950739
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
|
rs1555990485
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000053.4(ATP7B):c.2866-2A>G
|
rs1377418826
|
|
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)
|
rs397507327
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)
|
rs1567636493
|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
|
|
|
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)
|
rs752041565
|
|
NM_000094.4(COL7A1):c.2989C>T (p.Gln997Ter)
|
rs1559423385
|
|
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
|
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000359.3(TGM1):c.1187G>A (p.Arg396His)
|
rs121918721
|
|
NM_000382.3(ALDH3A2):c.837T>G (p.Tyr279Ter)
|
|
|
NM_000396.4(CTSK):c.891-1G>T
|
rs1557823855
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter)
|
rs727502851
|
|
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])
|
rs1601792367
|
|
NM_000481.4(AMT):c.20_21del (p.Val7fs)
|
rs1575309867
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1733_1734del (p.Leu578fs)
|
rs1562907232
|
|
NM_000527.5(LDLR):c.272del (p.Gly91fs)
|
rs1568592055
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT
|
rs1559995259
|
|
NM_000533.5(PLP1):c.634T>C (p.Trp212Arg)
|
rs2147766937
|
|
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)
|
rs1568503938
|
|
NM_000709.4(BCKDHA):c.554del (p.Leu185fs)
|
rs1568506608
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe)
|
rs1565799921
|
|
NM_001122955.4(BSCL2):c.1006-2A>G
|
rs879254029
|
|
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)
|
rs1565144468
|
|
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)
|
rs886042160
|
|
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)
|
rs1456182703
|
|
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)
|
rs1559109621
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001136035.4(TRMT1):c.1834-7C>T
|
|
|
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)
|
rs746572548
|
|
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)
|
rs1559360386
|
|
NM_001195248.2(APTX):c.638del (p.Leu213fs)
|
|
|
NM_001206744.2(TPO):c.2421del (p.Cys808fs)
|
rs760307139
|
|
NM_001206744.2(TPO):c.764dup (p.Gly256fs)
|
rs1558307375
|
|
NM_001243226.3(TCF4):c.286+1G>A
|
|
|
NM_001291303.3(FAT4):c.11800+1G>T
|
rs963302668
|
|
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)
|
rs397514481
|
|
NM_001377142.1(PLCB4):c.2814+1G>C
|
|
|
NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs)
|
rs756797124
|
|
NM_001673.5(ASNS):c.569T>G (p.Leu190Ter)
|
rs1562817048
|
|
NM_001673.5(ASNS):c.776-5T>G
|
|
|
NM_001918.5(DBT):c.663_670del (p.Lys222fs)
|
rs748851630
|
|
NM_002024.6(FMR1):c.-128GGC[200_?]
|
|
|
NM_002024.6(FMR1):c.-128GGC[55_200]
|
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003560.4(PLA2G6):c.1880-9del
|
rs1569243771
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)
|
rs1558898789
|
|
NM_004409.5(DMPK):c.*224CTG[110]
|
|
|
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)
|
rs121909083
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)
|
rs267606725
|
|
NM_005629.4(SLC6A8):c.1340_1341del (p.Val447fs)
|
|
|
NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter)
|
rs1564096221
|
|
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr)
|
rs1566219136
|
|
NM_012232.6(CAVIN1):c.160del (p.Val54fs)
|
rs1567782465
|
|
NM_012233.3(RAB3GAP1):c.1237-2A>G
|
rs1558792168
|
|
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter)
|
rs1558805900
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_014363.6(SACS):c.13454T>C (p.Leu4485Ser)
|
rs1566054340
|
|
NM_014363.6(SACS):c.3055A>G (p.Asn1019Asp)
|
rs1566071225
|
|
NM_014363.6(SACS):c.4103G>T (p.Ser1368Ile)
|
rs1566069517
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)
|
rs1565342506
|
|
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)
|
rs1567620939
|
|
NM_016239.4(MYO15A):c.6503T>G (p.Leu2168Arg)
|
rs1567648703
|
|
NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)
|
|
|
NM_017671.5(FERMT1):c.1848G>A (p.Trp616Ter)
|
rs869312731
|
|
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs)
|
rs1572226744
|
|
NM_020745.4(AARS2):c.2027A>C (p.Gln676Pro)
|
rs1561938413
|
|
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
|
rs1568107449
|
|
NM_021008.4(DEAF1):c.997+4A>C
|
rs886040972
|
|
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
|
|
|
NM_032801.5(JAM3):c.230_231del (p.Tyr77fs)
|
rs1942959311
|
|
NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)
|
rs768724007
|
|
NM_145239.3(PRRT2):c.799del (p.Asp267fs)
|
rs1567380076
|
|
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)
|
rs774026720
|
|
NM_153252.5(BRWD3):c.3200_3201del (p.Val1067fs)
|
rs1602311804
|
|
NM_153704.6(TMEM67):c.383_384del (p.His128fs)
|
rs386834200
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_178138.6(LHX3):c.452_454+20del
|
rs587776711
|
|
NM_182758.4(WDR72):c.2857del (p.Ser953fs)
|
rs606231351
|
|
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)
|
rs143816093
|
|