|
NM_003901.4(SGPL1):c.1483C>T (p.Arg495Ter)
|
rs374024951
|
0.00001
|
|
NM_004035.7(ACOX1):c.904C>T (p.Arg302Ter)
|
rs536723496
|
0.00001
|
|
NM_017662.5(TRPM6):c.4057C>T (p.Arg1353Ter)
|
rs1444779891
|
0.00001
|
|
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
|
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter)
|
rs778625408
|
|
|
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
|
|
|
|
NM_000124.4(ERCC6):c.22del (p.His8fs)
|
|
|
|
NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs)
|
rs2129749657
|
|
|
NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs)
|
rs2129749620
|
|
|
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs)
|
rs2141293209
|
|
|
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)
|
rs1591031929
|
|
|
NM_000199.5(SGSH):c.1A>C (p.Met1Leu)
|
rs1250300189
|
|
|
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer)
|
rs2067328461
|
|
|
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
|
rs2137501447
|
|
|
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)
|
|
|
|
NM_000268.4(NF2):c.447+2T>C
|
rs2146895235
|
|
|
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg)
|
rs782032018
|
|
|
NM_000348.4(SRD5A2):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
|
rs1954765607
|
|
|
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys)
|
rs1590007244
|
|
|
NM_000382.3(ALDH3A2):c.50C>A (p.Ser17Ter)
|
rs1447023449
|
|
|
NM_000426.4(LAMA2):c.908dup (p.Asn303fs)
|
rs2114964219
|
|
|
NM_000455.5(STK11):c.332del (p.Ile111fs)
|
|
|
|
NM_000488.4(SERPINC1):c.624+1G>A
|
rs1572090079
|
|
|
NM_000492.4(CFTR):c.2994del (p.Leu998fs)
|
rs749963273
|
|
|
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)
|
rs1567895448
|
|
|
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter)
|
|
|
|
NM_001009944.3(PKD1):c.8712dup (p.Val2905fs)
|
rs2151754069
|
|
|
NM_001011658.4(TRAPPC2):c.241_242del (p.Met81fs)
|
rs1602708047
|
|
|
NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs)
|
rs2147814859
|
|
|
NM_001040142.2(SCN2A):c.330C>A (p.Tyr110Ter)
|
rs2106151184
|
|
|
NM_001103.4(ACTN2):c.616-2A>G
|
|
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
|
NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs)
|
|
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
|
NM_001165963.4(SCN1A):c.36del (p.Asp12fs)
|
rs1684704927
|
|
|
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
|
|
|
|
NM_001288705.3(CSF1R):c.1969+1G>A
|
rs1757478199
|
|
|
NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer)
|
|
|
|
NM_001849.4(COL6A2):c.955-2A>C
|
rs1555873084
|
|
|
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
|
|
|
|
NM_002386.4(MC1R):c.840del (p.Phe280fs)
|
rs2045705764
|
|
|
NM_003919.3(SGCE):c.521del (p.Met174fs)
|
rs2116882157
|
|
|
NM_004006.3(DMD):c.1510C>T (p.Gln504Ter)
|
rs2149265022
|
|
|
NM_004006.3(DMD):c.2530C>T (p.Gln844Ter)
|
rs768892830
|
|
|
NM_004006.3(DMD):c.3256A>T (p.Lys1086Ter)
|
rs745585519
|
|
|
NM_004318.4(ASPH):c.1394del (p.Leu465fs)
|
|
|
|
NM_004369.4(COL6A3):c.6283-2A>G
|
rs797044988
|
|
|
NM_004429.5(EFNB1):c.474G>A (p.Met158Ile)
|
|
|
|
NM_005186.4(CAPN1):c.181_182insC (p.Phe61fs)
|
|
|
|
NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer)
|
rs2138661266
|
|
|
NM_005559.4(LAMA1):c.5235_5236del (p.Leu1746fs)
|
|
|
|
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)
|
|
|
|
NM_006019.4(TCIRG1):c.553del (p.Leu185fs)
|
rs1855280375
|
|
|
NM_006147.4(IRF6):c.298A>G (p.Thr100Ala)
|
|
|
|
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)
|
rs746506432
|
|
|
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
|
|
|
|
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
|
|
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
|
NM_015166.4(MLC1):c.736del (p.Ser246fs)
|
rs2146830385
|
|
|
NM_016239.4(MYO15A):c.488C>A (p.Ser163Ter)
|
rs773729617
|
|
|
NM_017662.5(TRPM6):c.3094+2T>C
|
rs2118927777
|
|
|
NM_017671.5(FERMT1):c.1861-1G>A
|
rs779915885
|
|
|
NM_018418.5(SPATA7):c.901_912+1del
|
|
|
|
NM_019616.4(F7):c.225+1G>C
|
rs1566906827
|
|
|
NM_020632.3(ATP6V0A4):c.1510C>T (p.Gln504Ter)
|
|
|
|
NM_022356.4(P3H1):c.2143C>T (p.Gln715Ter)
|
rs2124072579
|
|
|
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)
|
rs1829478568
|
|
|
NM_052988.5(CDK10):c.716_728del (p.Leu239fs)
|
|
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
|
NM_173660.5(DOK7):c.483_484dup (p.Ala162fs)
|
rs1577153124
|
|
|
NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter)
|
rs953404925
|
|
|
NM_198129.4(LAMA3):c.5121del (p.Gln1707fs)
|
|
|
|
NM_199242.3(UNC13D):c.1215C>G (p.Tyr405Ter)
|
rs143184345
|
|