NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)
|
rs199742668
|
0.00240
|
NM_005006.7(NDUFS1):c.-5+236T>C
|
rs184505364
|
0.00195
|
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
NM_014639.4(SKIC3):c.2275C>T (p.Leu759Phe)
|
rs145496449
|
0.00143
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_198129.4(LAMA3):c.1283G>C (p.Cys428Ser)
|
rs180795245
|
0.00092
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_000494.4(COL17A1):c.1013T>C (p.Leu338Ser)
|
rs61731630
|
0.00046
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
NM_003721.4(RFXANK):c.188-11C>T
|
rs201545133
|
0.00029
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001382347.1(MYO5A):c.3098T>G (p.Leu1033Trp)
|
rs751411629
|
0.00019
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met)
|
rs180716474
|
0.00016
|
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys)
|
rs148089728
|
0.00016
|
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
|
rs374754187
|
0.00016
|
NM_032229.3(SLITRK6):c.1904G>A (p.Arg635His)
|
rs79624852
|
0.00015
|
NM_017668.3(NDE1):c.214C>T (p.Arg72Cys)
|
rs777008106
|
0.00013
|
NM_000093.5(COL5A1):c.2700+191C>T
|
rs183885286
|
0.00011
|
NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn)
|
rs1370253003
|
0.00010
|
NM_052867.4(NALCN):c.883C>T (p.Arg295Cys)
|
rs372035044
|
0.00009
|
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp)
|
rs762766720
|
0.00006
|
NM_004523.4(KIF11):c.980G>A (p.Arg327His)
|
rs746977730
|
0.00006
|
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser)
|
rs749985011
|
0.00006
|
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)
|
rs140985565
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+3290A>G
|
rs1048449968
|
0.00005
|
NM_001330574.2(ZNF711):c.326G>C (p.Gly109Ala)
|
rs769223012
|
0.00005
|
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)
|
rs767982852
|
0.00005
|
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)
|
rs63751279
|
0.00004
|
NM_004446.3(EPRS1):c.2513G>A (p.Arg838His)
|
rs542576870
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_138272.3(MPIG6B):c.248G>A (p.Arg83His)
|
rs200855070
|
0.00004
|
NM_000501.4(ELN):c.1357G>A (p.Gly453Arg)
|
rs781802762
|
0.00003
|
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His)
|
rs376019368
|
0.00003
|
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)
|
rs372337277
|
0.00003
|
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser)
|
rs368513591
|
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_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015836.4(WARS2):c.317C>T (p.Pro106Leu)
|
rs753188889
|
0.00003
|
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr)
|
rs572278771
|
0.00003
|
NM_000208.4(INSR):c.3529+5G>A
|
rs764083259
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000257.4(MYH7):c.5096G>A (p.Arg1699Gln)
|
rs146778113
|
0.00002
|
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)
|
rs113994028
|
0.00002
|
NM_001286577.2(C2CD3):c.4658G>A (p.Arg1553Gln)
|
rs542660333
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys)
|
rs112817175
|
0.00002
|
NM_004595.5(SMS):c.799G>A (p.Gly267Arg)
|
rs757074790
|
0.00002
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00002
|
NM_017909.4(RMND1):c.920A>G (p.Asn307Ser)
|
rs746632175
|
0.00002
|
NM_018943.3(TUBA8):c.728G>A (p.Arg243His)
|
rs768178362
|
0.00002
|
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)
|
rs565662182
|
0.00001
|
NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)
|
rs758630897
|
0.00001
|
NM_000742.4(CHRNA2):c.1460C>T (p.Ser487Phe)
|
rs994299183
|
0.00001
|
NM_001267550.2(TTN):c.43033C>T (p.Pro14345Ser)
|
rs1576701632
|
0.00001
|
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu)
|
rs1208732776
|
0.00001
|
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)
|
rs761622153
|
0.00001
|
NM_001457.4(FLNB):c.871G>A (p.Val291Met)
|
rs751747906
|
0.00001
|
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
|
rs757047420
|
0.00001
|
NM_003356.4(UCP3):c.365C>T (p.Ala122Val)
|
rs773117397
|
0.00001
|
NM_003764.4(STX11):c.173T>C (p.Leu58Pro)
|
rs431905512
|
0.00001
|
NM_004064.5(CDKN1B):c.274C>T (p.Pro92Ser)
|
rs868695692
|
0.00001
|
NM_004092.4(ECHS1):c.88+5G>A
|
rs761464256
|
0.00001
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
NM_005149.3(TBX19):c.377C>T (p.Pro126Leu)
|
rs753455443
|
0.00001
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly)
|
rs1037950511
|
0.00001
|
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)
|
rs1037774698
|
0.00001
|
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)
|
rs1114167292
|
0.00001
|
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)
|
rs1023630527
|
0.00001
|
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys)
|
rs774077101
|
0.00001
|
NM_016553.5(NUP62):c.548C>T (p.Thr183Met)
|
rs756420654
|
0.00001
|
NM_021008.4(DEAF1):c.776C>T (p.Ala259Val)
|
rs1564949612
|
0.00001
|
NM_031421.5(ODAD4):c.158G>A (p.Arg53His)
|
rs782594989
|
0.00001
|
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser)
|
rs61735615
|
0.00001
|
NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)
|
rs766388628
|
0.00001
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000098.3(CPT2):c.416C>T (p.Pro139Leu)
|
rs369475478
|
|
NM_000133.4(F9):c.855G>C (p.Glu285Asp)
|
rs1603267310
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp)
|
rs1583749201
|
|
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
|
rs1587908683
|
|
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
|
rs1598151437
|
|
NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val)
|
rs1309642469
|
|
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln)
|
rs1589956747
|
|
NM_000222.3(KIT):c.2872A>G (p.Asn958Asp)
|
rs1560426461
|
|
NM_000251.3(MSH2):c.619G>T (p.Ala207Ser)
|
rs63750913
|
|
NM_000257.4(MYH7):c.4622A>T (p.Gln1541Leu)
|
rs587779389
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000428.3(LTBP2):c.1934T>C (p.Leu645Pro)
|
rs1566626728
|
|
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile)
|
rs1569538665
|
|
NM_000535.7(PMS2):c.1145-31_1145-13del
|
rs751973268
|
|
NM_000642.3(AGL):c.113C>G (p.Thr38Ser)
|
rs1557746521
|
|
NM_000815.5(GABRD):c.470+1G>C
|
rs1557445669
|
|
NM_000834.5(GRIN2B):c.1820G>C (p.Trp607Ser)
|
rs1591638805
|
|
NM_000875.5(IGF1R):c.2741G>A (p.Gly914Glu)
|
rs1596457264
|
|
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)
|
rs1596582702
|
|
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)
|
rs2092400099
|
|
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])
|
rs763199524
|
|
NM_001012759.3(CTU2):c.873+5G>A
|
rs1597431437
|
|
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe)
|
rs1581259156
|
|
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr)
|
rs1582095105
|
|
NM_001035256.2(POMC):c.297_298ins90 (p.?)
|
|
|
NM_001037.5(SCN1B):c.449-2A>G
|
rs1600370558
|
|
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)
|
rs773013563
|
|
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys)
|
rs1174582313
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001077418.3(TMEM231):c.526C>G (p.Leu176Val)
|
rs775613602
|
|
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
|
rs1569441509
|
|
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp)
|
rs757438868
|
|
NM_001101.5(ACTB):c.209C>A (p.Pro70His)
|
rs587779769
|
|
NM_001127644.2(GABRA1):c.1268C>T (p.Ser423Leu)
|
rs1581221893
|
|
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)
|
rs863225436
|
|
NM_001135146.2(SLC39A8):c.915G>C (p.Trp305Cys)
|
rs1578557666
|
|
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys)
|
rs1598176834
|
|
NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser)
|
rs727504143
|
|
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe)
|
rs1574568704
|
|
NM_001206999.2(CIT):c.3350+5G>A
|
rs1565958864
|
|
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro)
|
rs1593442207
|
|
NM_001257096.2(PAX1):c.1181C>T (p.Pro394Leu)
|
rs767129610
|
|
NM_001267550.2(TTN):c.55732+5G>C
|
rs878854377
|
|
NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys)
|
rs1590991247
|
|
NM_001318852.2(MAPK8IP3):c.3668A>G (p.Tyr1223Cys)
|
rs1596818779
|
|
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr)
|
rs1603251548
|
|
NM_001348768.2(HECW2):c.4550G>A (p.Ser1517Asn)
|
rs1353654549
|
|
NM_001369268.1(ACAN):c.5546G>A (p.Gly1849Asp)
|
rs34124958
|
|
NM_001376.5(DYNC1H1):c.11765C>G (p.Pro3922Arg)
|
rs141696238
|
|
NM_001377299.1(NDUFS2):c.703-11T>G
|
rs770054202
|
|
NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)
|
rs1554644827
|
|
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe)
|
rs1178676096
|
|
NM_001379029.1(CERT1):c.1335del (p.Ala446fs)
|
rs1561223965
|
|
NM_001384125.1(BLTP1):c.1183del (p.Ile395fs)
|
rs1579165246
|
|
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)
|
rs1422380205
|
|
NM_001394062.1(MACF1):c.20105T>C (p.Leu6702Pro)
|
rs1570118657
|
|
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys)
|
rs1166271142
|
|
NM_001955.5(EDN1):c.184G>C (p.Glu62Gln)
|
rs1561693994
|
|
NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)
|
rs1574689480
|
|
NM_002187.3(IL12B):c.320dup (p.Glu108fs)
|
rs587776807
|
|
NM_002246.3(KCNK3):c.250_267dup (p.Phe84_Thr89dup)
|
rs1558592501
|
|
NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr)
|
rs1566012539
|
|
NM_002641.4(PIGA):c.166C>G (p.Leu56Val)
|
rs1602212318
|
|
NM_002880.4(RAF1):c.659_660del (p.Ser220fs)
|
rs1575577384
|
|
NM_003126.4(SPTA1):c.1619C>A (p.Thr540Asn)
|
rs755070607
|
|
NM_003483.6(HMGA2):c.283-2A>G
|
rs1592471112
|
|
NM_003721.4(RFXANK):c.477C>A (p.Ser159Arg)
|
rs368281475
|
|
NM_003721.4(RFXANK):c.713-1G>A
|
rs2060720733
|
|
NM_003978.5(PSTPIP1):c.355-4G>A
|
rs1596111331
|
|
NM_003995.4(NPR2):c.3059G>A (p.Arg1020Gln)
|
rs770815149
|
|
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)
|
rs1569264240
|
|
NM_004214.5(FIBP):c.412-11C>G
|
rs1591078042
|
|
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val)
|
rs1574976543
|
|
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)
|
rs895608889
|
|
NM_004415.4(DSP):c.979A>G (p.Asn327Asp)
|
rs794727915
|
|
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)
|
rs759314410
|
|
NM_004793.4(LONP1):c.889G>A (p.Val297Met)
|
rs1599470758
|
|
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys)
|
rs1602295979
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005220.3(DLX3):c.337GAG[1] (p.Glu114del)
|
rs1598155105
|
|
NM_005430.4(WNT1):c.1090C>G (p.Arg364Gly)
|
rs1435433748
|
|
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu)
|
rs1591680946
|
|
NM_005633.4(SOS1):c.2316G>C (p.Glu772Asp)
|
rs1176763588
|
|
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del)
|
rs1575202038
|
|
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr)
|
rs1570478057
|
|
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)
|
rs1315777461
|
|
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg)
|
rs758413695
|
|
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)
|
rs1485078108
|
|
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)
|
rs371505143
|
|
NM_006208.3(ENPP1):c.1066T>C (p.Trp356Arg)
|
rs751147622
|
|
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile)
|
rs1581645904
|
|
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)
|
rs794727507
|
|
NM_006586.5(CNPY3):c.496-3_496-2del
|
rs1581718297
|
|
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
|
rs767374538
|
|
NM_006922.4(SCN3A):c.3265G>C (p.Asp1089His)
|
rs1574158109
|
|
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser)
|
rs754590341
|
|
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)
|
rs866395967
|
|
NM_012193.4(FZD4):c.461A>G (p.His154Arg)
|
rs1334686841
|
|
NM_013254.4(TBK1):c.400C>T (p.Arg134Cys)
|
rs1592358092
|
|
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg)
|
rs1239964151
|
|
NM_013352.4(DSE):c.1568G>A (p.Gly523Glu)
|
rs1562313702
|
|
NM_014141.6(CNTNAP2):c.2099-79071A>G
|
rs1584975264
|
|
NM_014319.5(LEMD3):c.2094T>G (p.His698Gln)
|
rs1309178409
|
|
NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu)
|
rs1569361725
|
|
NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)
|
rs1586200380
|
|
NM_014795.4(ZEB2):c.3114C>G (p.His1038Gln)
|
rs1573708173
|
|
NM_014845.6(FIG4):c.968A>G (p.Gln323Arg)
|
rs1583671246
|
|
NM_014915.3(ANKRD26):c.5102_5106del (p.Val1701fs)
|
rs2052846280
|
|
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
|
rs1565416876
|
|
NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)
|
rs1571340611
|
|
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr)
|
rs1564032190
|
|
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)
|
rs1585190351
|
|
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_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys)
|
rs752575160
|
|
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)
|
rs1570073403
|
|
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs)
|
rs1591060788
|
|
NM_016341.4(PLCE1):c.6757G>A (p.Ala2253Thr)
|
rs180876175
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
NM_018127.7(ELAC2):c.1299G>T (p.Trp433Cys)
|
rs1598224070
|
|
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)
|
rs1385075246
|
|
NM_018196.4(TMLHE):c.6G>T (p.Trp2Cys)
|
rs782121512
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018489.3(ASH1L):c.1573G>C (p.Val525Leu)
|
rs1570942566
|
|
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)
|
rs1558212011
|
|
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile)
|
rs762382665
|
|
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)
|
rs1599633287
|
|
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile)
|
rs1596432381
|
|
NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val)
|
rs1558088029
|
|
NM_021942.6(TRAPPC11):c.1208-5C>G
|
rs185570336
|
|
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs)
|
rs1570452214
|
|
NM_022370.4(ROBO3):c.2727C>G (p.Cys909Trp)
|
rs1565313973
|
|
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val)
|
rs1581535417
|
|
NM_022552.5(DNMT3A):c.137G>A (p.Arg46Gln)
|
rs1573454800
|
|
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro)
|
rs1567972995
|
|
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)
|
rs1565941025
|
|
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)
|
rs1602749982
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_032436.4(CHAMP1):c.1150C>T (p.Pro384Ser)
|
rs1430511251
|
|
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del)
|
rs1601634468
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)
|
rs1575494329
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_130839.5(UBE3A):c.883A>G (p.Ser295Gly)
|
rs1595810000
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro)
|
rs1572611822
|
|
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn)
|
rs1892588636
|
|
NM_145331.3(MAP3K7):c.986A>T (p.Asn329Ile)
|
rs767139595
|
|
NM_153252.5(BRWD3):c.3602+20C>G
|
rs1602309498
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|
NM_172107.4(KCNQ2):c.1280G>A (p.Gly427Glu)
|
rs1601590796
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3])
|
rs1555543390
|
|
NM_178012.5(TUBB2B):c.4C>A (p.Arg2Ser)
|
rs1581526962
|
|
NM_178138.6(LHX3):c.112A>G (p.Ile38Val)
|
rs1341469393
|
|
NM_181458.4(PAX3):c.*3G>C
|
rs1574618272
|
|
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
|
rs1590156657
|
|
NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln)
|
rs749720186
|
|
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro)
|
rs398124590
|
|
NM_198239.2(CCN6):c.648G>T (p.Trp216Cys)
|
rs781860587
|
|
NM_205836.3(FBXO38):c.1618+1G>T
|
rs1581261359
|
|
NM_207111.4(RNF216):c.2663T>A (p.Val888Glu)
|
rs1449103875
|
|
NM_213653.4(HJV):c.497A>G (p.His166Arg)
|
rs1553769663
|
|