ClinVar Miner

List of variants reported by Institute of Human Genetics, University of Goettingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 625
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HGVS dbSNP gnomAD frequency
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) rs1216631170
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter) rs950492553
NM_134261.3(RORA):c.440G>A (p.Arg147Gln)
NM_138615.3(DHX30):c.2345G>A (p.Arg782Gln) rs1559723511
NM_144599.5(NIPA1):c.179-5T>C rs774341557
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

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