NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000091.5(COL4A3):c.2371C>T (p.Arg791Ter)
|
rs1060499654
|
0.00001
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
0.00001
|
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln)
|
rs749040743
|
0.00001
|
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)
|
rs1316686443
|
0.00001
|
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)
|
rs1043384862
|
0.00001
|
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)
|
rs775650144
|
0.00001
|
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)
|
rs1060499649
|
0.00001
|
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)
|
rs777219451
|
0.00001
|
NM_014915.3(ANKRD26):c.-126T>C
|
rs1589393792
|
0.00001
|
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu)
|
rs1391158579
|
0.00001
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)
|
rs771251344
|
0.00001
|
NM_153700.2(STRC):c.4425G>C (p.Trp1475Cys)
|
rs727503443
|
0.00001
|
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val)
|
rs397517925
|
0.00001
|
NC_000001.10:g.(103388956_103400026)_(104094395_?)del
|
|
|
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
|
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000041.4(APOE):c.461G>T (p.Arg154Leu)
|
rs200703101
|
|
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)
|
rs775644968
|
|
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)
|
rs587781302
|
|
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp)
|
rs876658542
|
|
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)
|
rs775453643
|
|
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn)
|
rs1555394999
|
|
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del)
|
rs397516155
|
|
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
|
rs875989883
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
|
|
NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp)
|
rs1567174297
|
|
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)
|
rs1060499659
|
|
NM_000901.5(NR3C2):c.2017C>T (p.Arg673Ter)
|
rs121912571
|
|
NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)
|
rs879253755
|
|
NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys)
|
rs879253758
|
|
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys)
|
rs1553463119
|
|
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)
|
rs1555536868
|
|
NM_001079872.2(CUL4B):c.1741+4_1741+7del
|
rs1569389364
|
|
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs)
|
rs1057519592
|
|
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
|
rs863223538
|
|
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe)
|
rs1555767914
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)
|
rs886039373
|
|
NM_001291415.2(KDM6A):c.3754C>T (p.Leu1252Phe)
|
rs1060499665
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu)
|
rs1560092224
|
|
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
|
|
|
NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)
|
|
|
NM_001614.5(ACTG1):c.440G>A (p.Arg147His)
|
rs2143779222
|
|
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys)
|
rs2143775790
|
|
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg)
|
rs1461754052
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)
|
rs61130669
|
|
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)
|
rs1060499666
|
|
NM_003036.4(SKI):c.539C>A (p.Thr180Lys)
|
rs863223722
|
|
NM_003361.4(UMOD):c.587A>G (p.Asp196Gly)
|
rs1060499657
|
|
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter)
|
rs879255521
|
|
NM_005402.4(RALA):c.68G>C (p.Gly23Ala)
|
|
|
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)
|
rs1590572104
|
|
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)
|
rs748876063
|
|
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
|
|
|
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile)
|
rs2140188685
|
|
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
|
|
|
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)
|
rs1556891104
|
|
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val)
|
rs1057519499
|
|
NM_006502.3(POLH):c.571A>C (p.Thr191Pro)
|
|
|
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
|
|
|
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)
|
rs1485749468
|
|
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)
|
rs875989881
|
|
NM_014208.3(DSPP):c.1805del (p.Ser602fs)
|
|
|
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)
|
rs1060499656
|
|
NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)
|
rs1554593899
|
|
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu)
|
rs864622480
|
|
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)
|
rs1060499670
|
|
NM_014946.4(SPAST):c.1441_1446del (p.Leu481_Val482del)
|
|
|
NM_015340.4(LARS2):c.457A>C (p.Asn153His)
|
rs786205560
|
|
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro)
|
rs1187416161
|
|
NM_017780.4(CHD7):c.3523-19A>T
|
|
|
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu)
|
rs201362977
|
|
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)
|
rs1588872865
|
|
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser)
|
rs876657756
|
|
NM_025074.7(FRAS1):c.3975+1G>C
|
|
|
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile)
|
rs1057519593
|
|
NM_032578.4(MYPN):c.2704-1G>A
|
rs865921466
|
|
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg)
|
rs754223700
|
|
NM_033380.3(COL4A5):c.421G>A (p.Gly141Ser)
|
rs1556403112
|
|
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys)
|
rs2109015193
|
|
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn)
|
rs1555563717
|
|
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)
|
rs1952754017
|
|
NM_152263.4(TPM3):c.43G>C (p.Asp15His)
|
rs1553251644
|
|
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly)
|
rs796052650
|
|
NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu)
|
rs761575210
|
|
NM_206937.2(LIG4):c.2321T>C (p.Leu774Pro)
|
rs1060499662
|
|