NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_005006.7(NDUFS1):c.-5+236T>C
|
rs184505364
|
0.00195
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000093.5(COL5A1):c.2700+191C>T
|
rs183885286
|
0.00011
|
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter)
|
rs149459910
|
0.00011
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met)
|
rs1127511
|
0.00008
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)
|
rs34575645
|
0.00005
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_032040.5(CCDC8):c.963del (p.Ala323fs)
|
rs746873023
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr)
|
rs150563256
|
0.00003
|
NM_001365999.1(SZT2):c.2929+15C>T
|
rs1030508390
|
0.00003
|
NM_138425.4(C12orf57):c.1A>G (p.Met1Val)
|
rs587776954
|
0.00003
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln)
|
rs542660333
|
0.00002
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)
|
rs746632175
|
0.00002
|
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter)
|
rs387907236
|
0.00002
|
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001985.3(ETFB):c.58-57C>T
|
rs766066977
|
0.00001
|
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser)
|
rs143337739
|
0.00001
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)
|
rs766629205
|
0.00001
|
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)
|
rs764260054
|
0.00001
|
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)
|
rs1037774698
|
0.00001
|
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)
|
rs1023630527
|
0.00001
|
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
|
rs777438557
|
0.00001
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)
|
rs774005569
|
0.00001
|
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp)
|
rs548129734
|
0.00001
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)
|
rs1593903422
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
|
rs2068606445
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)
|
rs1475984278
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
|
rs1813725009
|
|
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)
|
rs1575553528
|
|
NM_001032386.2(SUOX):c.520del (p.Asp174fs)
|
rs1565798380
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs)
|
rs1599879104
|
|
NM_001080517.3(SETD5):c.1452dup (p.Pro485fs)
|
rs1575453353
|
|
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
|
rs1569441509
|
|
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter)
|
rs727504175
|
|
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)
|
rs1591672193
|
|
NM_001101.5(ACTB):c.209C>A (p.Pro70His)
|
rs587779769
|
|
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)
|
rs1578557666
|
|
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)
|
rs1388811021
|
|
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter)
|
rs747536886
|
|
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)
|
rs1600932676
|
|
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)
|
rs1600930164
|
|
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys)
|
rs1590991247
|
|
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys)
|
rs61752138
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)
|
rs1561540623
|
|
NM_001371986.1(UNC80):c.409C>T (p.Arg137Ter)
|
rs1289499829
|
|
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
|
rs1554265316
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001375380.1(EBF3):c.412-2A>T
|
rs1859264278
|
|
NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)
|
rs1589962586
|
|
NM_001377299.1(NDUFS2):c.703-11T>G
|
rs770054202
|
|
NM_001378183.1(PIEZO2):c.4244_4245del (p.Thr1415fs)
|
rs1598431052
|
|
NM_001378183.1(PIEZO2):c.6055C>T (p.Arg2019Ter)
|
rs764171255
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)
|
rs886041281
|
|
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)
|
rs765023287
|
|
NM_001982.4(ERBB3):c.3425C>T (p.Pro1142Leu)
|
rs1592232580
|
|
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)
|
rs200938111
|
|
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr)
|
rs1566012539
|
|
NM_002470.4(MYH3):c.4405dup (p.Glu1469fs)
|
rs1597482824
|
|
NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)
|
rs387906726
|
|
NM_002641.4(PIGA):c.166C>G (p.Leu56Val)
|
rs1602212318
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002880.4(RAF1):c.659_660del (p.Ser220fs)
|
rs1575577384
|
|
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)
|
rs1820558146
|
|
NM_003193.5(TBCE):c.155_166del (p.Ser52_Gly55del)
|
rs767004810
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)
|
rs1569264240
|
|
NM_004214.5(FIBP):c.412-11C>G
|
rs1591078042
|
|
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)
|
rs895608889
|
|
NM_004423.4(DVL3):c.1715-1G>C
|
rs869025217
|
|
NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr)
|
rs1579936916
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
NM_004793.4(LONP1):c.889G>A (p.Val297Met)
|
rs1599470758
|
|
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)
|
rs1588621944
|
|
NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)
|
rs1321888585
|
|
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)
|
rs1603441682
|
|
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs)
|
rs1309599304
|
|
NM_005522.5(HOXA1):c.175dup (p.Val59fs)
|
rs769152039
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)
|
rs1561635887
|
|
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val)
|
rs1555641324
|
|
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)
|
rs758413695
|
|
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)
|
rs1485078108
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
|
rs767374538
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)
|
rs1597459998
|
|
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)
|
rs2034195603
|
|
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)
|
rs1562313702
|
|
NM_014141.6(CNTNAP2):c.2099-79071A>G
|
rs1584975264
|
|
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)
|
rs1586200380
|
|
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)
|
rs1581930130
|
|
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln)
|
rs1573708173
|
|
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)
|
rs1660016633
|
|
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)
|
rs1571340611
|
|
NM_015340.4(LARS2):c.457A>C (p.Asn153His)
|
rs786205560
|
|
NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser)
|
rs1574742379
|
|
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe)
|
rs1558788291
|
|
NM_015443.4(KANSL1):c.2902C>T (p.Gln968Ter)
|
rs2077030838
|
|
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)
|
rs752575160
|
|
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
|
rs1602937895
|
|
NM_017780.4(CHD7):c.6734del (p.Leu2245fs)
|
rs1563661595
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
NM_017946.4(FKBP14):c.197+5_197+8del
|
rs747353360
|
|
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys)
|
rs1598224070
|
|
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu)
|
rs397515465
|
|
NM_018238.4(AGK):c.72G>A (p.Trp24Ter)
|
rs1587053244
|
|
NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg)
|
rs1602975122
|
|
NM_018838.5(NDUFA12):c.4G>T (p.Glu2Ter)
|
rs1411237396
|
|
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)
|
rs1555374290
|
|
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter)
|
rs1596194950
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)
|
rs1558212011
|
|
NM_020312.4(COQ9):c.184C>T (p.His62Tyr)
|
rs757251412
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)
|
rs1599633287
|
|
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)
|
rs1573454800
|
|
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln)
|
rs1040187200
|
|
NM_024339.5(THOC6):c.837C>A (p.Cys279Ter)
|
rs146682486
|
|
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)
|
rs1727403682
|
|
NM_025114.4(CEP290):c.4714G>T (p.Glu1572Ter)
|
rs1292516576
|
|
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)
|
rs1565941025
|
|
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)
|
rs1598089943
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn)
|
rs558425417
|
|
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
|
rs1583595091
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)
|
rs1575494329
|
|
NM_052867.4(NALCN):c.2831dup (p.Thr945fs)
|
rs1594211244
|
|
NM_052867.4(NALCN):c.3533T>C (p.Leu1178Pro)
|
rs1594168705
|
|
NM_078480.3(PUF60):c.931del (p.Thr311fs)
|
rs1586565506
|
|
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter)
|
rs763706988
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_133259.4(LRPPRC):c.1177T>C (p.Tyr393His)
|
rs863224054
|
|
NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)
|
rs863224054
|
|
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer)
|
rs1747566758
|
|
NM_138425.4(C12orf57):c.53-2A>G
|
rs1114167293
|
|
NM_139284.3(LGI4):c.834del (p.Ser279fs)
|
rs1600470099
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_153816.6(SNX14):c.1725del (p.Phe575fs)
|
rs1311909367
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|
NM_174916.3(UBR1):c.1440-1G>A
|
rs1596118528
|
|
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)
|
rs1581526962
|
|
NM_181458.4(PAX3):c.*3G>C
|
rs1574618272
|
|
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)
|
rs1064793391
|
|
NM_182895.5(SCARF2):c.25del (p.Ala9fs)
|
rs1215759021
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_203475.3(PORCN):c.329+1G>A
|
rs1602070594
|
|