NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_015836.4(WARS2):c.938A>T (p.Lys313Met)
|
rs145867327
|
0.00035
|
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter)
|
rs200353633
|
0.00032
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
|
rs771529549
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_005373.3(MPL):c.391+5G>C
|
rs752453717
|
0.00012
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_015681.6(B9D1):c.341+2T>C
|
rs143149764
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)
|
rs375305567
|
0.00008
|
NM_018116.4(MSTO1):c.836G>A (p.Arg279His)
|
rs563943670
|
0.00008
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000144.5(FXN):c.389G>T (p.Gly130Val)
|
rs104894107
|
0.00004
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)
|
rs756198077
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)
|
rs386834182
|
0.00004
|
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys)
|
rs387906847
|
0.00004
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile)
|
rs753657349
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_006005.3(WFS1):c.2254G>T (p.Glu752Ter)
|
rs201239579
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_015450.3(POT1):c.1164-1G>A
|
rs866612394
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp)
|
rs797045402
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)
|
rs775204908
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)
|
rs193922839
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)
|
rs267606717
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)
|
rs121918051
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)
|
rs145639028
|
0.00001
|
NM_006070.6(TFG):c.317G>A (p.Arg106His)
|
rs376971794
|
0.00001
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_017739.4(POMGNT1):c.652+1G>T
|
rs386834035
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)
|
rs1426175410
|
0.00001
|
NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly)
|
rs397509387
|
0.00001
|
NM_000051.4(ATM):c.478_482del (p.Ser160fs)
|
rs587780624
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.617C>T (p.Thr206Met)
|
rs1441649062
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.3(INS):c.163C>T (p.Arg55Cys)
|
rs121908261
|
|
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)
|
rs587783772
|
|
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
|
rs587783848
|
|
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs)
|
rs1555099541
|
|
NM_000273.3(GPR143):c.682C>T (p.Gln228Ter)
|
rs2083414866
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000525.4(KCNJ11):c.556C>G (p.His186Asp)
|
rs2133380076
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.2870+1G>A
|
rs765241115
|
|
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs)
|
rs587784374
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer)
|
rs796053515
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
NM_001029896.2(WDR45):c.966dup (p.Val323fs)
|
rs797046105
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs)
|
rs797046035
|
|
NM_001083962.2(TCF4):c.990G>A (p.Ser330=)
|
rs587784469
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001134407.3(GRIN2A):c.3701del (p.Phe1234fs)
|
rs886041308
|
|
NM_001164508.2(NEB):c.2499del (p.Ala834fs)
|
rs1553564693
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
NM_001197104.2(KMT2A):c.3473G>A (p.Cys1158Tyr)
|
rs1131691503
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp)
|
rs1064797083
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003282.4(TNNI2):c.525G>T (p.Lys175Asn)
|
rs797046046
|
|
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del)
|
rs587783704
|
|
NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)
|
rs587784359
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004656.4(BAP1):c.458_459del (p.Pro153fs)
|
rs1559590613
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)
|
rs147105770
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)
|
rs387906819
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)
|
rs587784425
|
|
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)
|
rs587784429
|
|
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)
|
rs1555691402
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr)
|
rs797046071
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006031.6(PCNT):c.7842_7843del (p.Cys2614_Glu2615delinsTer)
|
rs2147963975
|
|
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)
|
rs587784408
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_015346.4(ZFYVE26):c.6384C>A (p.Tyr2128Ter)
|
rs2140192948
|
|
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp)
|
rs1557680919
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016239.4(MYO15A):c.9303+1G>T
|
rs876657708
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs)
|
rs1403868262
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)
|
rs1554162016
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)
|
rs1555714808
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032638.5(GATA2):c.1017+572C>T
|
rs1559985787
|
|
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp)
|
rs1576744529
|
|
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)
|
rs80358380
|
|
NM_133433.4(NIPBL):c.65-5A>G
|
rs587784012
|
|
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)
|
rs587784030
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)
|
rs61444459
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met)
|
rs1057520391
|
|
NM_182961.4(SYNE1):c.16155C>G (p.Tyr5385Ter)
|
|
|