NM_015378.4(VPS13D):c.4022C>T (p.Ser1341Leu)
|
rs12407578
|
0.00280
|
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)
|
rs140512665
|
0.00061
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_015386.3(COG4):c.373C>T (p.Arg125Cys)
|
rs757774654
|
0.00014
|
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met)
|
rs759287748
|
0.00009
|
NM_006231.4(POLE):c.2639C>T (p.Thr880Met)
|
rs1337524033
|
0.00007
|
NM_001083961.2(WDR62):c.1640C>T (p.Thr547Met)
|
rs756313871
|
0.00005
|
NM_001114753.3(ENG):c.-126G>A
|
rs940261789
|
0.00005
|
NM_001244008.2(KIF1A):c.3286C>T (p.Arg1096Cys)
|
rs745556410
|
0.00005
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)
|
rs775256033
|
0.00004
|
NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp)
|
rs376705845
|
0.00004
|
NM_001349253.2(SCN11A):c.3136C>T (p.Arg1046Trp)
|
rs776182932
|
0.00004
|
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)
|
rs782526786
|
0.00004
|
NM_198994.3(TGM6):c.1382T>C (p.Leu461Pro)
|
rs984559925
|
0.00004
|
NM_002693.3(POLG):c.1235C>T (p.Pro412Leu)
|
rs587780420
|
0.00003
|
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)
|
rs538766032
|
0.00003
|
NM_000158.4(GBE1):c.2102C>T (p.Pro701Leu)
|
rs552335025
|
0.00002
|
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)
|
rs745990205
|
0.00002
|
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)
|
rs886039012
|
0.00002
|
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln)
|
rs753892865
|
0.00002
|
NM_004519.4(KCNQ3):c.1706A>G (p.Asp569Gly)
|
rs372671883
|
0.00002
|
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)
|
rs138304650
|
0.00002
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000288.4(PEX7):c.534G>C (p.Gln178His)
|
rs746010906
|
0.00001
|
NM_000372.5(TYR):c.1101C>A (p.His367Gln)
|
rs139091458
|
0.00001
|
NM_000484.4(APP):c.1409G>A (p.Arg470His)
|
rs182162117
|
0.00001
|
NM_000642.3(AGL):c.412G>A (p.Gly138Arg)
|
rs747039991
|
0.00001
|
NM_001080517.3(SETD5):c.2200A>G (p.Thr734Ala)
|
rs918034864
|
0.00001
|
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp)
|
rs1016959427
|
0.00001
|
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu)
|
rs762309788
|
0.00001
|
NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg)
|
rs1330487603
|
0.00001
|
NM_001148.6(ANK2):c.767G>C (p.Gly256Ala)
|
rs1276798019
|
0.00001
|
NM_001199753.2(CPT1C):c.1064C>T (p.Pro355Leu)
|
rs1384468076
|
0.00001
|
NM_001370298.3(FGD4):c.789C>G (p.His263Gln)
|
rs757469397
|
0.00001
|
NM_001379286.1(ZNF423):c.3223G>A (p.Ala1075Thr)
|
rs774865680
|
0.00001
|
NM_002055.5(GFAP):c.793A>G (p.Thr265Ala)
|
rs758250219
|
0.00001
|
NM_002335.4(LRP5):c.913G>A (p.Gly305Ser)
|
rs377176311
|
0.00001
|
NM_002615.7(SERPINF1):c.336G>T (p.Leu112Phe)
|
rs749212971
|
0.00001
|
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser)
|
rs1760423963
|
0.00001
|
NM_003179.3(SYP):c.2T>C (p.Met1Thr)
|
rs1557103814
|
0.00001
|
NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu)
|
rs1326092141
|
0.00001
|
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)
|
rs752784218
|
0.00001
|
NM_004722.4(AP4M1):c.142del (p.Val48fs)
|
rs764326593
|
0.00001
|
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)
|
rs753708048
|
0.00001
|
NM_004958.4(MTOR):c.6169A>G (p.Met2057Val)
|
rs1010993658
|
0.00001
|
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp)
|
rs1231571339
|
0.00001
|
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys)
|
rs756679265
|
0.00001
|
NM_005909.5(MAP1B):c.976C>T (p.Arg326Trp)
|
rs200457818
|
0.00001
|
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)
|
rs759508064
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006915.3(RP2):c.761T>C (p.Ile254Thr)
|
rs1556318773
|
0.00001
|
NM_006946.4(SPTBN2):c.3867+3G>T
|
rs753473374
|
0.00001
|
NM_012064.4(MIP):c.694G>C (p.Glu232Gln)
|
rs773085032
|
0.00001
|
NM_014874.4(MFN2):c.1822G>A (p.Ala608Thr)
|
rs1639431440
|
0.00001
|
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)
|
rs1259072587
|
0.00001
|
NM_015267.4(CUX2):c.3702T>G (p.Asp1234Glu)
|
rs1353211680
|
0.00001
|
NM_015378.4(VPS13D):c.2065C>T (p.Arg689Trp)
|
rs775767366
|
0.00001
|
NM_017534.6(MYH2):c.5149G>A (p.Glu1717Lys)
|
rs1479754797
|
0.00001
|
NM_020884.7(MYH7B):c.3004G>A (p.Glu1002Lys)
|
rs1214758148
|
0.00001
|
NM_020928.2(ZSWIM6):c.2738G>A (p.Arg913Gln)
|
rs1389523495
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)
|
rs772831628
|
0.00001
|
NM_152424.4(AMER1):c.3130A>G (p.Met1044Val)
|
rs369116388
|
0.00001
|
NM_170606.3(KMT2C):c.1331G>A (p.Arg444Gln)
|
rs760928040
|
0.00001
|
NM_181332.3(NLGN4X):c.2294G>A (p.Arg765His)
|
rs1323836608
|
0.00001
|
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)
|
rs750743855
|
0.00001
|
GRCh37/hg19 10q11.21(chr10:45822136-46004831)x3
|
|
|
GRCh37/hg19 10q21.1(chr10:58932423-59272160)x1
|
|
|
GRCh37/hg19 10q21.3(chr10:67805361-67914425)x1
|
|
|
GRCh37/hg19 10q26.11(chr10:121430894-121474213)x1
|
|
|
GRCh37/hg19 11p11.2(chr11:47997461-48142707)x3
|
|
|
GRCh37/hg19 11p14.1(chr11:30834034-30902723)x3
|
|
|
GRCh37/hg19 11p15.1(chr11:17899742-18258290)x3
|
|
|
GRCh37/hg19 11q14.1(chr11:83996454-84055732)x1
|
|
|
GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:1345909-1476210)x1
|
|
|
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
|
|
|
GRCh37/hg19 12q24.31(chr12:121200681-121428630)x1
|
|
|
GRCh37/hg19 13q12.2(chr13:27876782-28102260)x3
|
|
|
GRCh37/hg19 13q31.3(chr13:92065660-92299019)x1
|
|
|
GRCh37/hg19 14q23.3(chr14:67157668-67391036)x1
|
|
|
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
|
|
|
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4
|
|
|
GRCh37/hg19 15q15.3(chr15:43888927-43933733)x1
|
|
|
GRCh37/hg19 15q24.1(chr15:73525422-73571525)x1
|
|
|
GRCh37/hg19 16p13.13-13.12(chr16:12389767-13081111)x3
|
|
|
GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1
|
|
|
GRCh37/hg19 16q23.1(chr16:77896747-79037091)x1
|
|
|
GRCh37/hg19 16q24.3(chr16:89689822-89726926)x3
|
|
|
GRCh37/hg19 17q12(chr17:36473175-36567469)x3
|
|
|
GRCh37/hg19 17q23.2(chr17:58829418-59018304)x1
|
|
|
GRCh37/hg19 18p11.31(chr18:3540677-3890654)x3
|
|
|
GRCh37/hg19 18p11.32(chr18:2682920-2803186)x3
|
|
|
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1
|
|
|
GRCh37/hg19 19p13.3(chr19:4981959-5129575)x1
|
|
|
GRCh37/hg19 1p21.2-21.1(chr1:101995745-103415045)x1
|
|
|
GRCh37/hg19 1p31.1(chr1:84264954-84731653)x1
|
|
|
GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1
|
|
|
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3
|
|
|
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3
|
|
|
GRCh37/hg19 20p11.21(chr20:25295600-25397825)x1
|
|
|
GRCh37/hg19 20p12.3(chr20:7103757-8075977)x3
|
|
|
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3
|
|
|
GRCh37/hg19 20q11.22(chr20:32854720-32914371)x3
|
|
|
GRCh37/hg19 20q13.12(chr20:45756621-45846429)x3
|
|
|
GRCh37/hg19 21q22.2(chr21:41239529-41403368)x3
|
|
|
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3
|
|
|
GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3
|
|
|
GRCh37/hg19 2q23.1(chr2:149093832-149198502)x1
|
|
|
GRCh37/hg19 2q34(chr2:213002887-213026083)x1
|
|
|
GRCh37/hg19 2q36.3(chr2:228128781-228177755)x1
|
|
|
GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1
|
|
|
GRCh37/hg19 2q37.3(chr2:238245132-239052675)x3
|
|
|
GRCh37/hg19 3p14.2(chr3:62939217-63583768)x3
|
|
|
GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3
|
|
|
GRCh37/hg19 4p11(chr4:48784236-48907733)x3
|
|
|
GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3
|
|
|
GRCh37/hg19 4q21.3(chr4:87165664-87259133)x1
|
|
|
GRCh37/hg19 4q22.1(chr4:93238754-93306710)x1
|
|
|
GRCh37/hg19 4q31.22-31.23(chr4:148317938-148933250)x3
|
|
|
GRCh37/hg19 5p15.31(chr5:7952706-9108420)x1
|
|
|
GRCh37/hg19 5p15.33(chr5:26141-2537457)x3
|
|
|
GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3
|
|
|
GRCh37/hg19 5q13.2(chr5:68728731-68849653)x3
|
|
|
GRCh37/hg19 5q13.3(chr5:74744212-74806334)x1
|
|
|
GRCh37/hg19 5q33.1(chr5:151264215-151547865)x0
|
|
|
GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3
|
|
|
GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1
|
|
|
GRCh37/hg19 6q14.3(chr6:85220808-85517846)x3
|
|
|
GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4
|
|
|
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1
|
|
|
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3
|
|
|
GRCh37/hg19 6q21(chr6:110720327-111091182)x3
|
|
|
GRCh37/hg19 6q22.31(chr6:118767972-119044197)x3
|
|
|
GRCh37/hg19 6q24.2(chr6:144294042-144747647)x3
|
|
|
GRCh37/hg19 7p12.1(chr7:53757193-53836967)x0
|
|
|
GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1
|
|
|
GRCh37/hg19 7p14.3-14.2(chr7:34952596-35078052)x3
|
|
|
GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1
|
|
|
GRCh37/hg19 7q36.2(chr7:154390339-154546335)x3
|
|
|
GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1
|
|
|
GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1
|
|
|
GRCh37/hg19 8q24.3(chr8:140893978-141050020)x3
|
|
|
GRCh37/hg19 9p24.3(chr9:691104-1063787)x1
|
|
|
GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2
|
|
|
GRCh37/hg19 Xp22.31(chrX:6467006-8131810)x3
|
|
|
GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3
|
|
|
GRCh37/hg19 Xp22.32(chrX:5073112-5578094)x1
|
|
|
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
|
|
|
GRCh37/hg19 Xp22.33(chrX:498249-681607)x3
|
|
|
GRCh37/hg19 Xq13.1(chrX:70471276-70510697)x0
|
|
|
GRCh37/hg19 Xq22.1(chrX:98441030-98832991)x2
|
|
|
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del
|
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000038.6(APC):c.2528del (p.Ser843fs)
|
rs1765204324
|
|
NM_000038.6(APC):c.681C>G (p.Asp227Glu)
|
rs1060503359
|
|
NM_000051.4(ATM):c.1372_1397dup (p.Gln466fs)
|
rs2135320462
|
|
NM_000051.4(ATM):c.4381T>G (p.Trp1461Gly)
|
rs982008501
|
|
NM_000051.4(ATM):c.4820del (p.Pro1607fs)
|
rs2135834949
|
|
NM_000051.4(ATM):c.5918+14G>T
|
rs2136020496
|
|
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val)
|
rs772608345
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
NM_000059.4(BRCA2):c.3628G>C (p.Asp1210His)
|
rs774392592
|
|
NM_000059.4(BRCA2):c.4738dup (p.Cys1580fs)
|
|
|
NM_000059.4(BRCA2):c.658dup (p.Val220fs)
|
|
|
NM_000088.4(COL1A1):c.1668del (p.Gly557fs)
|
rs72648360
|
|
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser)
|
rs2144550235
|
|
NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys)
|
|
|
NM_000088.4(COL1A1):c.696+5del
|
|
|
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs)
|
rs1576467391
|
|
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys)
|
|
|
NM_000095.3(COMP):c.1A>G (p.Met1Val)
|
rs2145906023
|
|
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
|
|
|
NM_000127.3(EXT1):c.2194C>T (p.Gln732Ter)
|
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.7697A>C (p.Glu2566Ala)
|
rs2042941498
|
|
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu)
|
rs1474187970
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
NM_000162.5(GCK):c.1178T>C (p.Met393Thr)
|
rs2096271425
|
|
NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)
|
rs1262031967
|
|
NM_000168.6(GLI3):c.4283dup (p.Pro1429fs)
|
rs2128704974
|
|
NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs)
|
rs1553414239
|
|
NM_000217.3(KCNA1):c.966T>A (p.Ser322Arg)
|
|
|
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
|
rs1131692183
|
|
NM_000238.4(KCNH2):c.76+2T>A
|
rs794728419
|
|
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
|
|
|
NM_000249.4(MLH1):c.991G>C (p.Glu331Gln)
|
rs550914672
|
|
NM_000251.3(MSH2):c.1387-9T>C
|
rs587779087
|
|
NM_000251.3(MSH2):c.1899A>T (p.Ile633=)
|
rs1667243318
|
|
NM_000251.3(MSH2):c.1907del (p.Ala636fs)
|
|
|
NM_000254.3(MTR):c.2044-1G>T
|
|
|
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter)
|
rs1114167419
|
|
NM_000264.5(PTCH1):c.735dup (p.Ala246fs)
|
|
|
NM_000287.4(PEX6):c.386A>T (p.Glu129Val)
|
rs1561831003
|
|
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro)
|
rs2110104859
|
|
NM_000304.4(PMP22):c.449G>T (p.Gly150Val)
|
rs879253954
|
|
NM_000307.5(POU3F4):c.340dup (p.Trp114fs)
|
rs2147996471
|
|
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg)
|
rs786204854
|
|
NM_000335.5(SCN5A):c.3866C>T (p.Thr1289Ile)
|
rs2125844123
|
|
NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)
|
|
|
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
|
rs1953897394
|
|
NM_000368.5(TSC1):c.1929del (p.Ser644fs)
|
rs2131812351
|
|
NM_000384.3(APOB):c.2245-13A>G
|
rs2103372398
|
|
NM_000390.4(CHM):c.1402del (p.Ser468fs)
|
|
|
NM_000390.4(CHM):c.1714G>A (p.Val572Ile)
|
rs2148120495
|
|
NM_000390.4(CHM):c.232C>T (p.Gln78Ter)
|
rs2147706580
|
|
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer)
|
rs2147676302
|
|
NM_000426.4(LAMA2):c.7750-2A>G
|
rs778539477
|
|
NM_000435.3(NOTCH3):c.1927T>G (p.Cys643Gly)
|
|
|
NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr)
|
|
|
NM_000465.4(BARD1):c.2275_2276delinsAT (p.Pro759Ile)
|
rs1692195261
|
|
NM_000489.6(ATRX):c.6504+5_6504+14del
|
rs2064891953
|
|
NM_000496.3(CRYBB2):c.562C>T (p.Arg188Cys)
|
rs2146095454
|
|
NM_000516.7(GNAS):c.231del (p.Gln78fs)
|
|
|
NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)
|
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
|
rs2145663047
|
|
NM_000548.5(TSC2):c.2742+5G>C
|
|
|
NM_000554.6(CRX):c.100+5G>A
|
|
|
NM_000554.6(CRX):c.29A>G (p.His10Arg)
|
rs754630141
|
|
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)
|
rs1653448255
|
|
NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter)
|
rs534696343
|
|
NM_000702.4(ATP1A2):c.2254T>A (p.Phe752Ile)
|
|
|
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)
|
rs2096050688
|
|
NM_000719.7(CACNA1C):c.583T>A (p.Trp195Arg)
|
rs2154562876
|
|
NM_000834.5(GRIN2B):c.3352G>T (p.Asp1118Tyr)
|
rs2136404881
|
|
NM_000875.5(IGF1R):c.2155C>T (p.Arg719Cys)
|
rs757536805
|
|
NM_000875.5(IGF1R):c.3872A>G (p.Glu1291Gly)
|
rs1215292877
|
|
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
|
|
|
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs)
|
rs2137946568
|
|
NM_001005273.3(CHD3):c.3851_3852delinsTT (p.Ser1284Ile)
|
|
|
NM_001005273.3(CHD3):c.4648C>A (p.Pro1550Thr)
|
rs2151641010
|
|
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)
|
|
|
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val)
|
rs2080115822
|
|
NM_001018005.2(TPM1):c.139C>G (p.Gln47Glu)
|
rs2031854538
|
|
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr)
|
rs2034911718
|
|
NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met)
|
rs1640041056
|
|
NM_001029896.2(WDR45):c.437-4_437-2delinsT
|
rs1602538379
|
|
NM_001031710.3(KLHL7):c.223+5G>C
|
rs2128460058
|
|
NM_001031710.3(KLHL7):c.815T>C (p.Leu272Pro)
|
rs2128466903
|
|
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp)
|
rs1222724041
|
|
NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)
|
|
|
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
|
|
|
NM_001040142.2(SCN2A):c.3869C>T (p.Thr1290Ile)
|
rs1701137468
|
|
NM_001040142.2(SCN2A):c.5120T>C (p.Leu1707Pro)
|
|
|
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg)
|
rs2145961090
|
|
NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs)
|
|
|
NM_001042492.3(NF1):c.6819+1G>T
|
rs1555534964
|
|
NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe)
|
rs1597866901
|
|
NM_001042681.2(RERE):c.2794C>G (p.Pro932Ala)
|
|
|
NM_001042750.2(STAG2):c.1412_1416+9del
|
rs2148280047
|
|
NM_001046.3(SLC12A2):c.2930-5T>A
|
|
|
NM_001048174.2(MUTYH):c.169C>G (p.His57Asp)
|
|
|
NM_001079668.3(NKX2-1):c.338dup (p.Tyr116fs)
|
rs2139411832
|
|
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)
|
rs1922994124
|
|
NM_001080517.3(SETD5):c.1441-1G>A
|
rs2041850171
|
|
NM_001080517.3(SETD5):c.242G>A (p.Ser81Asn)
|
rs2125096547
|
|
NM_001080517.3(SETD5):c.4014G>C (p.Arg1338Ser)
|
rs2125631412
|
|
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
|
|
|
NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)
|
|
|
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
|
|
|
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
|
|
|
NM_001101.5(ACTB):c.179G>A (p.Ser60Asn)
|
rs755437923
|
|
NM_001101.5(ACTB):c.745A>T (p.Thr249Ser)
|
rs2128241268
|
|
NM_001110556.2(FLNA):c.1373T>C (p.Val458Ala)
|
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
|
|
|
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs)
|
rs1554810066
|
|
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs)
|
rs1588581846
|
|
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
|
|
|
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)
|
rs1561571575
|
|
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro)
|
rs2108724010
|
|
NM_001130105.1(CERT1):c.67G>A (p.Val23Ile)
|
|
|
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)
|
rs1564197227
|
|
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.466C>T (p.Arg156Ter)
|
|
|
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs)
|
rs1844915022
|
|
NM_001134407.3(GRIN2A):c.2409GAA[1] (p.Lys804del)
|
|
|
NM_001134673.4(NFIA):c.352G>C (p.Asp118His)
|
rs1570123287
|
|
NM_001135651.3(EIF2AK2):c.1631A>G (p.Glu544Gly)
|
|
|
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
|
|
|
NM_001162501.2(TNRC6B):c.3282dup (p.Phe1095fs)
|
|
|
NM_001162501.2(TNRC6B):c.5306C>A (p.Ser1769Tyr)
|
|
|
NM_001163435.3(TBCK):c.468C>G (p.Tyr156Ter)
|
|
|
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg)
|
rs757621514
|
|
NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr)
|
rs1176739172
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu)
|
rs1641555589
|
|
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln)
|
rs2139467378
|
|
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter)
|
rs752374375
|
|
NM_001174147.2(LMX1B):c.259C>T (p.Gln87Ter)
|
|
|
NM_001190274.2(FBXO11):c.1264A>G (p.Ile422Val)
|
rs766752833
|
|
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
|
|
|
NM_001197104.2(KMT2A):c.905G>A (p.Arg302Gln)
|
rs2134259085
|
|
NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)
|
rs751933977
|
|
NM_001231.5(CASQ1):c.829-2A>G
|
rs1378829381
|
|
NM_001256627.2(BRSK2):c.702C>A (p.His234Gln)
|
rs772319187
|
|
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
|
|
|
NM_001270.4(CHD1):c.643dup (p.Ser215fs)
|
|
|
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe)
|
rs2141861661
|
|
NM_001273.5(CHD4):c.1895_1896del
|
|
|
NM_001278116.2(L1CAM):c.215A>C (p.Asp72Ala)
|
|
|
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)
|
rs1591299252
|
|
NM_001282116.2(RFX3):c.475-3C>G
|
rs2130076904
|
|
NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)
|
|
|
NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)
|
|
|
NM_001303052.2(MYT1L):c.351del (p.Asp119fs)
|
rs2056843518
|
|
NM_001308120.2(TOGARAM1):c.2338+3A>G
|
|
|
NM_001326342.2(CELF2):c.1507G>A (p.Gly503Ser)
|
|
|
NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)
|
|
|
NM_001347721.2(DYRK1A):c.840dup (p.Pro281fs)
|
rs2148612955
|
|
NM_001348716.2(KDM6B):c.4737+5G>A
|
|
|
NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs)
|
rs2108200372
|
|
NM_001349253.2(SCN11A):c.1654T>A (p.Ser552Thr)
|
rs1559521113
|
|
NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)
|
|
|
NM_001349338.3(FOXP1):c.1946T>C (p.Leu649Pro)
|
|
|
NM_001358921.2(COQ2):c.298G>A (p.Ala100Thr)
|
|
|
NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln)
|
rs778225485
|
|
NM_001366521.1(ATP2B1):c.2359G>T (p.Asp787Tyr)
|
|
|
NM_001367498.1(CNTNAP5):c.3703C>T (p.Arg1235Ter)
|
rs982218609
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)
|
rs1167005463
|
|
NM_001369268.1(ACAN):c.4844del (p.Gly1615fs)
|
rs1897080948
|
|
NM_001370298.3(FGD4):c.1573dup (p.Ser525fs)
|
|
|
NM_001371596.2(MFSD8):c.698+2T>A
|
|
|
NM_001371727.1(GABRB2):c.986T>A (p.Ile329Asn)
|
rs1753821661
|
|
NM_001371928.1(AHDC1):c.2036del (p.Gly679fs)
|
rs2148281776
|
|
NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro)
|
rs2083140726
|
|
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)
|
rs2083272071
|
|
NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)
|
|
|
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)
|
rs151344531
|
|
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)
|
rs2128210949
|
|
NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs)
|
rs2128325440
|
|
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
|
|
|
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs)
|
rs1794549840
|
|
NM_001374828.1(ARID1B):c.6834C>G (p.Ser2278Arg)
|
rs1794564510
|
|
NM_001375524.1(TRRAP):c.1570_1578dup (p.Pro526_Phe527insValProPro)
|
|
|
NM_001375524.1(TRRAP):c.2573_2577del (p.Pro858fs)
|
|
|
NM_001376.5(DYNC1H1):c.12673G>T (p.Asp4225Tyr)
|
|
|
NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys)
|
rs778752793
|
|
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr)
|
rs1567006359
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His)
|
rs561526280
|
|
NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer)
|
|
|
NM_001378974.1(FBXW11):c.1480G>A (p.Ala494Thr)
|
rs1310419699
|
|
NM_001379451.1(BCORL1):c.4054G>C (p.Glu1352Gln)
|
rs141583187
|
|
NM_001382.4(DPAGT1):c.271C>T (p.Pro91Ser)
|
rs2134915769
|
|
NM_001384140.1(PCDH15):c.157+3_157+6del
|
rs1308495572
|
|
NM_001385012.1(NBEA):c.850C>T (p.Arg284Cys)
|
|
|
NM_001394062.1(MACF1):c.13780A>C (p.Met4594Leu)
|
rs2148558317
|
|
NM_001458.5(FLNC):c.1549+3_1549+4insT
|
|
|
NM_001563.4(IMPG1):c.2362G>T (p.Glu788Ter)
|
|
|
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
|
rs2031770749
|
|
NM_001664.4(RHOA):c.139G>A (p.Glu47Lys)
|
rs1575653629
|
|
NM_001690.4(ATP6V1A):c.1043C>G (p.Ala348Gly)
|
rs1709137678
|
|
NM_001690.4(ATP6V1A):c.370G>A (p.Val124Met)
|
rs749209409
|
|
NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr)
|
rs1852795747
|
|
NM_001733.7(C1R):c.424+2T>C
|
|
|
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val)
|
rs2147182640
|
|
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)
|
|
|
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp)
|
|
|
NM_001851.6(COL9A1):c.287G>A (p.Arg96Lys)
|
|
|
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
|
|
|
NM_001854.4(COL11A1):c.3412G>A (p.Gly1138Ser)
|
rs2101282529
|
|
NM_001854.4(COL11A1):c.344T>G (p.Leu115Arg)
|
|
|
NM_001854.4(COL11A1):c.494A>G (p.His165Arg)
|
|
|
NM_001904.4:c.1_1081del
|
|
|
NM_002234.4(KCNA5):c.1329C>G (p.Ile443Met)
|
rs147209278
|
|
NM_002240.5(KCNJ6):c.191A>G (p.Asn64Ser)
|
rs2123452050
|
|
NM_002249.6(KCNN3):c.650C>T (p.Pro217Leu)
|
|
|
NM_002334.4(LRP4):c.2814+1G>A
|
|
|
NM_002335.4(LRP5):c.131G>C (p.Arg44Pro)
|
rs774243312
|
|
NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)
|
|
|
NM_002471.4(MYH6):c.2843A>G (p.Glu948Gly)
|
rs2138598876
|
|
NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met)
|
rs1603482715
|
|
NM_002478.5(MYOD1):c.607C>G (p.Arg203Gly)
|
rs2133764481
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002742.3(PRKD1):c.1905+2T>A
|
rs2139090218
|
|
NM_003024.3(ITSN1):c.2405A>C (p.Glu802Ala)
|
|
|
NM_003070.5(SMARCA2):c.2431C>T (p.Arg811Cys)
|
|
|
NM_003070.5(SMARCA2):c.3457-2A>T
|
rs1823192606
|
|
NM_003076.5(SMARCD1):c.890T>C (p.Leu297Ser)
|
|
|
NM_003106.4(SOX2):c.589A>G (p.Met197Val)
|
rs1438385283
|
|
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)
|
rs972175989
|
|
NM_003119.4(SPG7):c.1853C>G (p.Thr618Ser)
|
rs1189687320
|
|
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)
|
rs373143136
|
|
NM_003238.6(TGFB2):c.755G>T (p.Gly252Val)
|
|
|
NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter)
|
rs1060499552
|
|
NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter)
|
rs2120441127
|
|
NM_003482.4(KMT2D):c.1395dup (p.Arg466fs)
|
rs1565820584
|
|
NM_003482.4(KMT2D):c.14826dup (p.Glu4943Ter)
|
rs1942639701
|
|
NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter)
|
rs781145102
|
|
NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter)
|
rs1057519422
|
|
NM_003482.4(KMT2D):c.543dup (p.Ile182fs)
|
rs1938252967
|
|
NM_003482.4(KMT2D):c.9178G>A (p.Gly3060Arg)
|
|
|
NM_003491.4(NAA10):c.30C>G (p.Asp10Glu)
|
rs2148536720
|
|
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)
|
rs2065169655
|
|
NM_003590.5(CUL3):c.1419_1425delinsTAAAC (p.Met473fs)
|
|
|
NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs)
|
rs1569145145
|
|
NM_003722.5(TP63):c.3G>T (p.Met1Ile)
|
rs1028553870
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
NM_003816.3(ADAM9):c.1616del (p.Cys539fs)
|
|
|
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)
|
rs760285654
|
|
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg)
|
|
|
NM_004068.4(AP2M1):c.529G>T (p.Val177Leu)
|
rs2109031049
|
|
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile)
|
rs1308281595
|
|
NM_004187.5(KDM5C):c.1583+5G>T
|
rs2073531540
|
|
NM_004281.4(BAG3):c.670dup (p.Ser224fs)
|
rs1135402750
|
|
NM_004311.4(ARL3):c.86G>T (p.Gly29Val)
|
rs2136008708
|
|
NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe)
|
rs1255101216
|
|
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln)
|
rs2106342223
|
|
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
|
|
|
NM_004380.3(CREBBP):c.4050T>A (p.Asn1350Lys)
|
rs2052177028
|
|
NM_004397.6(DDX6):c.134T>G (p.Leu45Arg)
|
rs367679076
|
|
NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp)
|
rs1131692184
|
|
NM_004461.3(FARSA):c.1211G>A (p.Arg404His)
|
|
|
NM_004461.3(FARSA):c.733G>A (p.Glu245Lys)
|
|
|
NM_004523.4(KIF11):c.376dup (p.Thr126fs)
|
rs2135901156
|
|
NM_004667.6(HERC2):c.11981A>C (p.Glu3994Ala)
|
rs2142241769
|
|
NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del)
|
rs1657568113
|
|
NM_004722.4(AP4M1):c.498del (p.Ser167fs)
|
rs766513025
|
|
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
|
|
|
NM_004958.4(MTOR):c.5113T>G (p.Trp1705Gly)
|
|
|
NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)
|
|
|
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)
|
rs1131692233
|
|
NM_005035.4(POLRMT):c.2763+5G>A
|
|
|
NM_005121.3(MED13):c.5245A>G (p.Arg1749Gly)
|
rs1440544611
|
|
NM_005141.5(FGB):c.490+1G>C
|
rs111502670
|
|
NM_005188.4(CBL):c.1099_1101del (p.Gln367del)
|
rs1555230070
|
|
NM_005188.4(CBL):c.2120C>G (p.Pro707Arg)
|
rs576175174
|
|
NM_005188.4(CBL):c.710C>T (p.Ser237Leu)
|
rs1949868655
|
|
NM_005321.3(H1-4):c.410_415delinsTCCT (p.Lys137fs)
|
|
|
NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg)
|
rs2143631320
|
|
NM_005333.5(HCCS):c.608+5G>C
|
|
|
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
|
|
|
NM_005381.3(NCL):c.1984G>A (p.Gly662Ser)
|
|
|
NM_005391.5(PDK3):c.836A>G (p.Glu279Gly)
|
rs2148201759
|
|
NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr)
|
rs1947056659
|
|
NM_005445.4(SMC3):c.2132T>C (p.Ile711Thr)
|
rs1590567899
|
|
NM_005445.4(SMC3):c.662G>A (p.Arg221Gln)
|
rs1861038686
|
|
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
|
rs760571406
|
|
NM_005618.4(DLL1):c.2134G>T (p.Glu712Ter)
|
|
|
NM_005629.4(SLC6A8):c.1292_1302del (p.Asp431fs)
|
rs2148363973
|
|
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)
|
rs1753373048
|
|
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
|
|
|
NM_005677.4(COLQ):c.1340A>T (p.Asp447Val)
|
|
|
NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)
|
|
|
NM_005811.5(GDF11):c.1004G>A (p.Arg335His)
|
rs1335516178
|
|
NM_005862.3(STAG1):c.1894G>A (p.Val632Ile)
|
rs766435466
|
|
NM_005862.3(STAG1):c.2170A>G (p.Ile724Val)
|
rs1576445940
|
|
NM_005881.4(BCKDK):c.486C>A (p.His162Gln)
|
|
|
NM_005909.5(MAP1B):c.4492G>C (p.Gly1498Arg)
|
|
|
NM_005909.5(MAP1B):c.928A>G (p.Thr310Ala)
|
|
|
NM_005912.3(MC4R):c.268G>A (p.Asp90Asn)
|
rs2143967167
|
|
NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)
|
rs1942166073
|
|
NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)
|
rs1942173367
|
|
NM_006013.5(RPL10):c.218A>C (p.Asn73Thr)
|
rs2148138707
|
|
NM_006086.4(TUBB3):c.1343G>A (p.Gly448Asp)
|
|
|
NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro)
|
rs756958534
|
|
NM_006158.5(NEFL):c.943_948dup (p.Lys315_Thr316dup)
|
rs1803035040
|
|
NM_006160.4(NEUROD2):c.82G>T (p.Glu28Ter)
|
|
|
NM_006231.4(POLE):c.2218G>A (p.Glu740Lys)
|
rs1331682009
|
|
NM_006237.4(POU4F1):c.679G>A (p.Gly227Ser)
|
|
|
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)
|
rs2075588188
|
|
NM_006421.5(ARFGEF1):c.1641G>A (p.Met547Ile)
|
|
|
NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)
|
|
|
NM_006593.4(TBR1):c.1126G>C (p.Asp376His)
|
|
|
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly)
|
rs1684282566
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
NM_006766.5(KAT6A):c.4759T>G (p.Cys1587Gly)
|
rs2150855850
|
|
NM_006767.4(LZTR1):c.274C>A (p.Leu92Ile)
|
|
|
NM_007118.4(TRIO):c.5020G>A (p.Glu1674Lys)
|
|
|
NM_007118.4(TRIO):c.5667G>C (p.Lys1889Asn)
|
|
|
NM_007192.4(SUPT16H):c.1091A>G (p.Asn364Ser)
|
rs888333552
|
|
NM_007192.4(SUPT16H):c.1775C>T (p.Ala592Val)
|
|
|
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr)
|
rs2053411134
|
|
NM_007317.3(KIF22):c.361G>A (p.Ala121Thr)
|
|
|
NM_007327.4(GRIN1):c.1856T>A (p.Ile619Asn)
|
rs2131298693
|
|
NM_007332.3(TRPA1):c.2065A>G (p.Met689Val)
|
rs201271758
|
|
NM_012154.5(AGO2):c.2479G>T (p.Gly827Ter)
|
|
|
NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly)
|
|
|
NM_014112.5(TRPS1):c.1353T>G (p.Phe451Leu)
|
|
|
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)
|
rs1817974591
|
|
NM_014159.7(SETD2):c.4757A>G (p.His1586Arg)
|
rs2042407555
|
|
NM_014208.3(DSPP):c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA (p.Gly123fs)
|
rs1727756750
|
|
NM_014225.6(PPP2R1A):c.337C>T (p.Arg113Trp)
|
|
|
NM_014712.3(SETD1A):c.1939C>G (p.Pro647Ala)
|
rs929402224
|
|
NM_014727.3(KMT2B):c.7658+1G>T
|
|
|
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile)
|
rs1256629719
|
|
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)
|
rs1443578852
|
|
NM_014946.4(SPAST):c.314del (p.Pro105fs)
|
rs2148685718
|
|
NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn)
|
rs2148828032
|
|
NM_015015.3(KDM4B):c.2T>C (p.Met1Thr)
|
|
|
NM_015046.7(SETX):c.5065A>T (p.Asn1689Tyr)
|
rs2131426426
|
|
NM_015100.4(POGZ):c.1685G>A (p.Cys562Tyr)
|
rs1654829470
|
|
NM_015100.4(POGZ):c.2545+2del
|
rs2102155019
|
|
NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)
|
|
|
NM_015267.4(CUX2):c.560del (p.Lys187fs)
|
|
|
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)
|
rs2039789225
|
|
NM_015443.4(KANSL1):c.3049dup (p.Asp1017fs)
|
rs2077025601
|
|
NM_015557.3(CHD5):c.3187G>A (p.Glu1063Lys)
|
|
|
NM_015629.4(PRPF31):c.945+2T>G
|
rs2146437002
|
|
NM_015981.4(CAMK2A):c.1419G>A (p.Trp473Ter)
|
|
|
NM_016169.4(SUFU):c.160del (p.Val54fs)
|
rs2135598717
|
|
NM_016169.4(SUFU):c.479del (p.His160fs)
|
rs2135866639
|
|
NM_016169.4(SUFU):c.946_952del (p.Leu316fs)
|
|
|
NM_016284.5(CNOT1):c.3398A>G (p.Tyr1133Cys)
|
rs2151928424
|
|
NM_016532.4(INPP5K):c.152+5G>T
|
|
|
NM_016532.4(INPP5K):c.809G>A (p.Arg270His)
|
|
|
NM_016604.4(KDM3B):c.368C>T (p.Thr123Ile)
|
|
|
NM_016953.4(PDE11A):c.2436G>A (p.Met812Ile)
|
|
|
NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]
|
|
|
NM_017613.4(DONSON):c.48del (p.Glu17fs)
|
rs2145910302
|
|
NM_017613.4(DONSON):c.631C>G (p.Arg211Gly)
|
rs774052186
|
|
NM_017635.5(KMT5B):c.96dup (p.Gln33fs)
|
|
|
NM_017636.4(TRPM4):c.371dup (p.Ser125fs)
|
rs1135402751
|
|
NM_017714.3(TASP1):c.360G>T (p.Met120Ile)
|
rs2147255774
|
|
NM_017760.7(NCAPG2):c.1021-2A>G
|
|
|
NM_017763.6(RNF43):c.2308+1G>T
|
|
|
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter)
|
rs1057519423
|
|
NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer)
|
rs1554597507
|
|
NM_017780.4(CHD7):c.3522+1G>A
|
rs1804369859
|
|
NM_017780.4(CHD7):c.4985del (p.Ser1662fs)
|
rs1060499937
|
|
NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu)
|
rs2150793254
|
|
NM_017780.4(CHD7):c.6292del (p.Arg2098fs)
|
rs1060499560
|
|
NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys)
|
rs2081349672
|
|
NM_017934.7(PHIP):c.3782+4A>C
|
|
|
NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)
|
rs1060499557
|
|
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)
|
rs1555948969
|
|
NM_018486.3(HDAC8):c.1112-2A>G
|
rs1131690790
|
|
NM_018486.3(HDAC8):c.738-9969T>C
|
rs782287729
|
|
NM_018896.5(CACNA1G):c.1501C>T (p.His501Tyr)
|
rs750741896
|
|
NM_019842.4(KCNQ5):c.1710-2A>G
|
|
|
NM_019842.4(KCNQ5):c.688G>A (p.Ala230Thr)
|
|
|
NM_019842.4(KCNQ5):c.847C>T (p.Leu283Phe)
|
|
|
NM_020061.6(OPN1LW):c.764_765del (p.Glu255fs)
|
|
|
NM_020338.4(ZMIZ1):c.1030_1031dup (p.Ser345fs)
|
rs2132037242
|
|
NM_020340.5(ARFGEF3):c.1960C>T (p.Arg654Ter)
|
|
|
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
|
|
|
NM_021072.4(HCN1):c.225_245dup (p.Glu82_Asp83insGluProAlaGlyGlyPheGlu)
|
|
|
NM_021076.4(NEFH):c.883+1G>C
|
rs1602961831
|
|
NM_021814.5(ELOVL5):c.235A>T (p.Met79Leu)
|
rs1766783949
|
|
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile)
|
rs1219162535
|
|
NM_022089.4(ATP13A2):c.1885C>T (p.Pro629Ser)
|
rs2076964602
|
|
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)
|
rs1181378221
|
|
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
|
|
|
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
|
rs1763367673
|
|
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)
|
rs1763389239
|
|
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)
|
rs2149894799
|
|
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
|
|
|
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)
|
rs1756866850
|
|
NM_022455.5(NSD1):c.7024T>C (p.Ser2342Pro)
|
rs752927515
|
|
NM_022474.4(PALS1):c.94C>T (p.His32Tyr)
|
rs2140676311
|
|
NM_022489.4(INF2):c.286del (p.Leu96fs)
|
|
|
NM_022552.5(DNMT3A):c.1628dup (p.Arg544fs)
|
rs1164367418
|
|
NM_022893.4(BCL11A):c.35T>G (p.Leu12Ter)
|
rs2104801226
|
|
NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)
|
|
|
NM_023067.4(FOXL2):c.211G>C (p.Ala71Pro)
|
|
|
NM_024306.5(FA2H):c.115_121del (p.Phe39fs)
|
rs2144672568
|
|
NM_024306.5(FA2H):c.821C>A (p.Pro274His)
|
rs1263931890
|
|
NM_024312.5(GNPTAB):c.3570C>A (p.Asn1190Lys)
|
|
|
NM_024577.4(SH3TC2):c.3203A>G (p.Gln1068Arg)
|
|
|
NM_024577.4(SH3TC2):c.3675+2dup
|
rs1554120215
|
|
NM_024704.5(KIF16B):c.3773_3774del (p.Ala1258fs)
|
rs2122709970
|
|
NM_024757.5(EHMT1):c.3540G>A (p.Lys1180=)
|
|
|
NM_025103.4(IFT74):c.975-2_975-1del
|
rs2131642498
|
|
NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs)
|
|
|
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)
|
rs1135401787
|
|
NM_031263.4(HNRNPK):c.560A>G (p.His187Arg)
|
rs1588420417
|
|
NM_031263.4(HNRNPK):c.779G>A (p.Gly260Asp)
|
rs757092061
|
|
NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)
|
|
|
NM_032236.8(USP48):c.982G>A (p.Glu328Lys)
|
|
|
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)
|
rs374124838
|
|
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
|
|
|
NM_032892.5(FRMD5):c.285G>C (p.Lys95Asn)
|
|
|
NM_033109.5(PNPT1):c.1528G>A (p.Ala510Thr)
|
|
|
NM_052867.4(NALCN):c.3808C>T (p.Gln1270Ter)
|
rs2033656475
|
|
NM_052988.5(CDK10):c.729del (p.Glu244fs)
|
rs2060622260
|
|
NM_053025.4(MYLK):c.2726C>G (p.Thr909Ser)
|
|
|
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser)
|
rs1439430129
|
|
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del)
|
rs2056156815
|
|
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
|
|
|
NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg)
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rs1216631170
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NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter)
|
rs950492553
|
|
NM_134261.3(RORA):c.440G>A (p.Arg147Gln)
|
|
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NM_138615.3(DHX30):c.2345G>A (p.Arg782Gln)
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rs1559723511
|
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NM_144599.5(NIPA1):c.179-5T>C
|
rs774341557
|
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NM_145868.2(ANXA11):c.607del (p.Leu203fs)
|
|
|
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)
|
rs1555055028
|
|
NM_153212.3(GJB4):c.121G>A (p.Glu41Lys)
|
|
|
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
|
|
|
NM_170707.4(LMNA):c.164A>G (p.Glu55Gly)
|
rs2102817930
|
|
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr)
|
rs2081191454
|
|
NM_172201.2(KCNE2):c.247C>G (p.Pro83Ala)
|
rs1979548748
|
|
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)
|
rs757308523
|
|
NM_177398.4(LMX1A):c.622C>T (p.Arg208Ter)
|
rs1396081975
|
|
NM_178857.6(RP1L1):c.6476C>T (p.Pro2159Leu)
|
rs762951841
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_181882.3(PRX):c.1012del (p.Ala338fs)
|
rs1555801290
|
|
NM_182914.3(SYNE2):c.12108+10_12108+32dup
|
rs1333520524
|
|
NM_182925.5(FLT4):c.2765C>T (p.Pro922Leu)
|
|
|
NM_182931.3(KMT2E):c.3489dup (p.Lys1164Ter)
|
rs1479029169
|
|
NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter)
|
rs2098101022
|
|
NM_182978.4(GNAL):c.377-261G>C
|
|
|
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
|
rs1664580718
|
|
NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter)
|
rs1875117878
|
|
NM_198241.3(EIF4G1):c.3188C>T (p.Pro1063Leu)
|
|
|
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu)
|
rs2106983539
|
|
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly)
|
rs2102788868
|
|
NM_206933.4(USH2A):c.2168-1G>T
|
|
|
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His)
|
rs2034853248
|
|
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter)
|
rs2102450764
|
|
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser)
|
rs1598480419
|
|
NM_212482.4(FN1):c.7144+1G>A
|
|
|
Single allele
|
|
|