ClinVar Miner

List of variants reported as not provided by GenomeConnect, ClinGen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1024
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10q24.31-24.32(chr10:102969339-103234142)x3
GRCh37/hg19 10q24.32(chr10:103421890-103458708)x3
GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3
GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q13.3(chr15:32003537-32444044)x3
GRCh37/hg19 15q13.3(chr15:32003537-32446830)x3
GRCh37/hg19 15q21.2(chr15:51673125-51942596)x1
GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3
GRCh37/hg19 16p13.12(chr16:12706347-12893819)x1
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3
GRCh37/hg19 16q24.3(chr16:90089006-90274440)x3
GRCh37/hg19 17q21.31(chr17:42326687-42340104)x3
GRCh37/hg19 17q23.1(chr17:58075497-58247438)x1
GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3
GRCh37/hg19 1q21.1(chr1:145415156-145799615)x1
GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1
GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1
GRCh37/hg19 1q44(chr1:246678242-246797859)x3
GRCh37/hg19 20p12.3(chr20:7103757-8558193)x3
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3
GRCh37/hg19 22q11.21(chr22:20030782-20052415)x0
GRCh37/hg19 22q11.23-12.1(chr22:24652837-25970705)x3
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1
GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1
GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1
GRCh37/hg19 3p22.1(chr3:39423783-39438788)x3
GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1
GRCh37/hg19 7p22.2(chr7:3543270-4045261)x3
GRCh37/hg19 7q11.23(chr7:75146857-75234346)x3
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1
GRCh37/hg19 8p23.1-22(chr8:12559475-13050887)x3
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1
GRCh37/hg19 Xp11.21(chrX:56301687-56431164)x3
GRCh37/hg19 Xp11.4(chrX:41772933-41777035)x1
GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1
GRCh37/hg19 Xp21.1(chrX:33183494-33640512)x2
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1
GRCh37/hg19 Xq21.1(chrX:77032238-77144366)x3
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x2
GRCh37/hg19 Xq27.2(chrX:140353091-140738473)x3
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1
NCBI36/hg18 10p15.3-14(chr10:1-6889456)x1
NCBI36/hg18 16p11.2(chr16:29385560-30239515)x3
NCBI36/hg18 1q21.1(chr1:143639135-144458626)x3
NCBI36/hg18 1q42.2(chr1:229779180-229879929)x3
NCBI36/hg18 6p12.3(chr6:45579286-46089921)x3
NC_000002.12:g.170073431G>C
NC_012920.1:m.10018A>G rs1556423757
NC_012920.1:m.10887A>G
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.12170G>A rs1556424072
NC_012920.1:m.14663G>A rs1556424474
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.15492T>C rs1556424593
NC_012920.1:m.15708G>A rs1556424649
NC_012920.1:m.15928G>T rs527236198
NC_012920.1:m.1643A>G
NC_012920.1:m.263A>G rs2853515
NC_012920.1:m.3010G>A rs3928306
NC_012920.1:m.4769A>G rs3021086
NC_012920.1:m.5505A>G rs1569484003
NC_012920.1:m.5561T>C rs1556423009
NC_012920.1:m.7041G>A rs1556423220
NC_012920.1:m.750A>G rs2853518
NC_012920.1:m.8651T>C rs1556423512
NC_012920.1:m.8686T>C rs1569484231
NC_012920.1:m.9041A>G rs879244322
NC_012920.1:m.9152T>C rs878853096
NC_012920.1:m.9157G>A rs1556423625
NC_012920.1:m.9813T>A rs1556423727
NG_000006.1:g.34164_37967del3804
NM_000016.5(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000038.6(APC):c.1210del (p.Ile404fs) rs1064794225
NM_000038.6(APC):c.2845A>G (p.Met949Val) rs587781348
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895
NM_000050.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.496+3A>G rs876658311
NM_000051.3(ATM):c.5892G>C (p.Lys1964Asn) rs786202728
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000051.3(ATM):c.8120C>G (p.Ser2707Cys) rs748016261
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) rs111643041
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000059.3(BRCA2):c.1929del (p.Arg645fs) rs80359316
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.2836del (p.Asp946fs) rs80359358
NM_000059.3(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.3(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.3(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.3(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940
NM_000059.3(BRCA2):c.8527A>G (p.Asn2843Asp) rs876660403
NM_000059.3(BRCA2):c.9011A>G (p.Lys3004Arg) rs587782779
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000070.3(CAPN3):c.1722del (p.Ser575fs) rs1366387924
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.2845C>T (p.Pro949Ser) rs1434279534
NM_000089.3(COL1A2):c.2958del (p.Val987fs) rs1064793527
NM_000089.3(COL1A2):c.298G>A (p.Gly100Ser) rs1410254723
NM_000089.3(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.739G>T (p.Gly247Cys) rs1064794058
NM_000090.3(COL3A1):c.101A>G (p.His34Arg) rs752110396
NM_000090.3(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.3(COL3A1):c.203A>G (p.Asp68Gly) rs376603102
NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) rs769100283
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.3(COL3A1):c.4357G>A (p.Asp1453Asn) rs1131691353
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del) rs587779652
NM_000093.4(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000102.4(CYP17A1):c.297+2T>C rs764723654
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783
NM_000138.4(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.4708T>C (p.Trp1570Arg)
NM_000138.4(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000142.4(FGFR3):c.1331C>T (p.Ser444Phe)
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000169.2(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala)
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.905G>A (p.Arg302Lys) rs587781510
NM_000215.3(JAK3):c.1291C>T (p.Arg431Trp) rs1274345651
NM_000217.3(KCNA1):c.1126G>C (p.Gly376Arg) rs1555085786
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000238.3(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000242.2(MBL2):c.161G>A rs1800450
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000248.3(MITF):c.952G>A (p.Glu318Lys) rs149617956
NM_000249.3(MLH1):c.466T>C (p.Phe156Leu) rs1060500691
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010
NM_000250.2(MPO):c.2031-2A>C rs35897051
NM_000251.2(MSH2):c.1387-9T>A rs587779087
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.2164G>A (p.Val722Ile) rs587781996
NM_000251.2(MSH2):c.2510C>G (p.Pro837Arg)
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) rs747857800
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000257.4(MYH7):c.5283+2dup rs1566522824
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.940G>A (p.Glu314Lys)
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000280.4(PAX6):c.532C>T (p.Gln178Ter) rs1565207028
NM_000280.4(PAX6):c.766-2A>C rs1554983251
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.2140A>T (p.Met714Leu)
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479
NM_000292.3(PHKA2):c.2137+5G>A rs372314504
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)
NM_000304.4(PMP22):c.362A>G (p.His121Arg) rs1567698985
NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala)
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) rs121908551
NM_000335.4(SCN5A):c.1076C>A (p.Ala359Asp) rs1553704925
NM_000335.4(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.4(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.6006-698delC rs4147902
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000368.4(TSC1):c.214C>G (p.Leu72Val)
NM_000382.3(ALDH3A2):c.1293_1294GA[2] (p.Glu433fs) rs387906256
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn) rs777718986
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser)
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg) rs1064795616
NM_000393.5(COL5A2):c.316A>G (p.Asn106Asp) rs1449512324
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.3(LAMA2):c.1657C>T (p.Arg553Ter) rs1303773212
NM_000426.3(LAMA2):c.370G>T (p.Val124Leu) rs1278777348
NM_000426.3(LAMA2):c.409G>A (p.Ala137Thr)
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.5158G>C (p.Glu1720Gln)
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6229G>A (p.Ala2077Thr) rs142264176
NM_000428.3(LTBP2):c.578C>T (p.Pro193Leu) rs1221770546
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000445.5(PLEC):c.346-9T>G rs376483549
NM_000445.5(PLEC):c.6062T>C (p.Leu2021Pro) rs886044775
NM_000455.4(STK11):c.1225C>G (p.Arg409Gly) rs368466538
NM_000455.4(STK11):c.1294C>T (p.Gln432Ter) rs1057523149
NM_000465.4(BARD1):c.1990A>G (p.Arg664Gly) rs1064795138
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000486.5(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000495.4(COL4A5):c.1032+3_1032+6delAAGT rs104886314
NM_000501.4(ELN):c.1358-199G>A
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000525.3(KCNJ11):c.47G>A (p.Arg16His) rs770609243
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000539.3(RHO):c.946del (p.Cys316fs) rs1064793749
NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.3095G>A (p.Arg1032His) rs141942845
NM_000540.2(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179
NM_000540.2(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211
NM_000547.5(TPO):c.387del (p.Asn129fs) rs766399662
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214
NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met) rs1555968941
NM_000744.6(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_000755.5(CRAT):c.830G>A (p.Arg277His)
NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser)
NM_000811.3(GABRA6):c.1009del (p.Arg337fs) rs765780675
NM_000827.4(GRIA1):c.1988C>T (p.Thr663Met) rs752447548
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp) rs1561846159
NM_000833.5(GRIN2A):c.1202C>T (p.Pro401Leu) rs1489261681
NM_000834.4(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.4(GRIN2B):c.466G>A (p.Val156Ile) rs1555133189
NM_000842.4(GRM5):c.797G>C (p.Ser266Thr) rs1565260714
NM_000843.4(GRM6):c.2213_2219del (p.Ala738fs) rs770025079
NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) rs1131691583
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) rs1564405163
NM_001003694.2(BRPF1):c.286C>T (p.Gln96Ter) rs1553693863
NM_001003800.2(BICD2):c.320C>T (p.Ser107Leu) rs398123028
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)
NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) rs1064795892
NM_001005279.2(OR6K2):c.669_670insA (p.Ala224fs) rs1553241101
NM_001005463.3(EBF3):c.806del (p.Gly269fs)
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
NM_001009999.3(KDM1A):c.1072+3A>G rs1553129313
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001012502.3(CFAP157):c.*1715A>G
NM_001015509.2(PTRH2):c.104G>A (p.Arg35Gln)
NM_001017415.1(USP1):c.1985delA rs751218576
NM_001017989.3(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_001025.5(RPS23):c.200G>A (p.Arg67Lys) rs1060505034
NM_001029882.3(AHDC1):c.1167del (p.Arg389fs) rs1553159581
NM_001029882.3(AHDC1):c.1169del (p.Pro390fs) rs1553159575
NM_001029896.2(WDR45):c.246G>A (p.Trp82Ter)
NM_001029896.2(WDR45):c.827+1G>A rs1557083958
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216
NM_001036.5(RYR3):c.7812C>G (p.Asn2604Lys) rs41279214
NM_001036.5(RYR3):c.9581G>A (p.Arg3194His)
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) rs780958012
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039591.3(USP9X):c.7431+9dup rs774054468
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) rs1553463096
NM_001040142.2(SCN2A):c.4801G>T (p.Val1601Leu) rs1553463140
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040667.3(HSF4):c.925C>G (p.Leu309Val)
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001065.3(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001
NM_001072.4(UGT1A6):c.861+19821del rs369685158
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087
NM_001080437.3(SNED1):c.208_209CT[3] (p.Tyr71fs) rs1553548453
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001082486.1(ACD):c.137delG (p.Arg46Leufs) rs753666055
NM_001083619.1(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001093730.1(DYTN):c.1281_1282dup (p.Glu428fs)
NM_001098.3(ACO2):c.172C>T (p.Arg58Ter) rs751460831
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser) rs1034483010
NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter) rs370627877
NM_001103.3(ACTN2):c.431A>T (p.Gln144Leu)
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_001127221.1(CACNA1A):c.1199A>T (p.Glu400Val)
NM_001127221.1(CACNA1A):c.5924A>C (p.Gln1975Pro)
NM_001127464.1:c.1268C>T
NM_001127464.1:c.5695C>T
NM_001127628.1(FBP1):c.541G>A (p.Gly181Arg) rs1372801499
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001130823.3(DNMT1):c.2791G>A (p.Glu931Lys) rs767511749
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter) rs758180890
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001131005.2(MEF2C):c.405del (p.Pro136fs)
NM_001131005.2(MEF2C):c.407del (p.Pro136fs)
NM_001131005.2(MEF2C):c.47_50ACAG[1] (p.Arg17_Gln18insTer) rs1554150543
NM_001131005.2(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_001131016.2(CIZ1):c.2032-138A>G
NM_001134673.4(NFIA):c.220C>T (p.Arg74Ter) rs1553149182
NM_001135055.2(TKT):c.769_770ins18 (p.?)
NM_001135659.2(NRXN1):c.1364A>G (p.Tyr455Cys) rs371321580
NM_001136501.3(ZNF844):c.1039_1043TCTTA[1] (p.Tyr348_Asn350delinsTer)
NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly) rs1344482241
NM_001142564.1(CNGA1):c.1789G>C (p.Ala597Pro)
NM_001144978.2(MTHFD2L):c.482G>A (p.Gly161Glu)
NM_001144989.2(ZNF814):c.1892del (p.Pro631fs) rs1555777007
NM_001145004.2(GOLGA6L6):c.2015T>C (p.Met672Thr) rs4932675
NM_001145004.2(GOLGA6L6):c.2038T>G (p.Trp680Gly) rs4932676
NM_001145260.1(NCOA4):c.1388A>G (p.Lys463Arg)
NM_001145847.2(PROM1):c.2085C>T (p.Arg695=)
NM_001145901.2(SARS2):c.30G>A (p.Trp10Ter) rs145754412
NM_001145901.2(SARS2):c.700C>T (p.Arg234Cys) rs201347156
NM_001148.6(ANK2):c.4351A>G (p.Thr1451Ala) rs1554536556
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_001162501.2(TNRC6B):c.2247G>T (p.Trp749Cys) rs200598254
NM_001163673.1(WDR81):c.1973C>T (p.Pro658Leu)
NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser) rs772701006
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399
NM_001168272.1(ITPR1):c.4288G>A (p.Val1430Met) rs1559718601
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001172504.1(SLC6A2):c.1584C>G (p.Phe528Leu) rs1085307494
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) rs117557829
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) rs34970181
NM_001242875.3(ELP2):c.1713_1716del (p.Asn571fs) rs867944805
NM_001242897.2(DEPDC5):c.1870+2364dup rs1475605360
NM_001242897.2(DEPDC5):c.3797G>T (p.Arg1266Leu) rs1064795095
NM_001252100.2(KIF21B):c.2959_2962dup (p.Asn988fs)
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001256849.1(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_001256849.1(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.11311+1799G>C rs147314430
NM_001267550.2(TTN):c.13942G>A (p.Glu4648Lys) rs1553936042
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn)
NM_001267550.2(TTN):c.33805G>C (p.Val11269Leu) rs1553826665
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) rs551496477
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036
NM_001270.2(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271208.2(NEB):c.22264G>C (p.Asp7422His) rs770527289
NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met) rs188832359
NM_001278074.1(COL5A1):c.5077G>A (p.Ala1693Thr) rs560195385
NM_001286715.1(AGTPBP1):c.566C>A (p.Ser189Tyr) rs1261208737
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001304993.2(SDSL):c.360G>A (p.Trp120Ter)
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001308211.1(EARS2):c.334G>C (p.Ala112Pro) rs749048646
NM_001314042.1(KDM5B):c.4253G>A (p.Arg1418Gln)
NM_001316772.1(GARS1):c.-207C>G rs903029869
NM_001320.6(CSNK2B):c.367+5del
NM_001320839.2(DMAC2):c.*951G>A
NM_001346024.2(USP45):c.934-3408del rs554927779
NM_001348768.2(HECW2):c.4334A>G (p.Glu1445Gly) rs878854424
NM_001348803.2(ZBTB20):c.1805G>A (p.Gly602Asp)
NM_001356.4(DDX3X):c.1710G>A (p.Trp570Ter) rs1555954388
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg) rs1187997184
NM_001365999.1(SZT2):c.4288G>A (p.Ala1430Thr) rs1553149451
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001366311.1(TCP10):c.970G>A (p.Ala324Thr) rs140649985
NM_001366312.1(TCP10):c.457C>T (p.Arg153Ter) rs200948850
NM_001367479.1(DNAH14):c.11777-2A>G rs984710416
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val) rs1555411305
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311
NM_001396.4(DYRK1A):c.1400dup (p.Ile468fs) rs1555990946
NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln) rs775368605
NM_001457.4(FLNB):c.4859C>A (p.Thr1620Lys) rs753946814
NM_001458.4(FLNC):c.1081C>T (p.Arg361Cys) rs200206944
NM_001458.4(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083
NM_001540.5(HSPB1):c.184G>A (p.Ala62Thr) rs1064796602
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001615.4(ACTG2):c.478G>A (p.Val160Ile)
NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)
NM_001770.5(CD19):c.527C>T (p.Pro176Leu) rs148200569
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392
NM_001822.5(CHN1):c.1301C>T (p.Ala434Val) rs778517881
NM_001822.5(CHN1):c.1322T>C (p.Ile441Thr)
NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp) rs1131691687
NM_001844.5(COL2A1):c.3274-9_3274-6del rs1555165173
NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg) rs1566356383
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736
NM_001849.3(COL6A2):c.*56T>G rs148337125
NM_001849.3(COL6A2):c.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174
NM_001875.4(CPS1):c.1030_1032delACCinsGCT (p.Thr344Ala) rs386654705
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.5(CPS1):c.3405-29A>T rs3213784
NM_001875.5(CPS1):c.3756+45C>T rs6435580
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504
NM_001939.2(DRP2):c.1927G>A (p.Ala643Thr) rs774673009
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001958.4(EEF1A2):c.754G>C (p.Asp252His) rs786205865
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) rs945307250
NM_001976.5(ENO3):c.212A>G (p.Asn71Ser) rs238238
NM_001976.5(ENO3):c.240+13G>T rs1555553596
NM_001976.5(ENO3):c.254T>C (p.Val85Ala) rs238239
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467
NM_002004.4(FDPS):c.1091T>C (p.Val364Ala)
NM_002016.1(FLG):c.2143C>T (p.Gln715Ter) rs797045090
NM_002016.1(FLG):c.2278_2281CAGT[1] (p.Ser761fs) rs558269137
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
NM_002115.3(HK3):c.841G>A (p.Gly281Arg)
NM_002116.8(HLA-A):c.776del (p.Pro259fs) rs1554115495
NM_002192.4(INHBA):c.1050C>G (p.Cys350Trp) rs1562565534
NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)
NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met)
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070
NM_002317.7(LOX):c.741T>G (p.Ser247Arg)
NM_002332.3(LRP1):c.10129G>A (p.Gly3377Arg)
NM_002332.3(LRP1):c.10277G>C (p.Cys3426Ser)
NM_002336.3(LRP6):c.1750C>T (p.His584Tyr)
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
NM_002439.5(MSH3):c.1914_1916CTT[1] (p.Phe639del) rs758193305
NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) rs147122501
NM_002473.5(MYH9):c.2290C>T (p.Arg764Cys)
NM_002473.5(MYH9):c.5563C>T (p.Arg1855Trp) rs1436597250
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.456G>A (p.Met152Ile) rs201816949
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_002529.3(NTRK1):c.470G>A (p.Arg157His) rs141021604
NM_002562.6(P2RX7):c.125+1G>T rs35933842
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.2383A>C (p.Asn795His) rs1555452983
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.260T>C (p.Ile87Thr)
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) rs761649878
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002734.4(PRKAR1A):c.535C>T (p.Gln179Ter) rs141913727
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002905.4(RDH5):c.285G>A (p.Trp95Ter) rs774122562
NM_002979.5(SCP2):c.825G>T (p.Met275Ile) rs1557580517
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003042.4(SLC6A1):c.1222del (p.Leu408fs)
NM_003042.4(SLC6A1):c.871C>T (p.Gln291Ter) rs1064795098
NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003120.3(SPI1):c.322_324delinsAG (p.Gly108fs) rs1565638431
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003165.4(STXBP1):c.125_127CCT[1] (p.Ser43del) rs796053381
NM_003165.4(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_003165.4(STXBP1):c.78_79del (p.Glu27fs) rs1554775956
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003172.4(SURF1):c.588+1G>A rs1219762677
NM_003235.5(TG):c.5686+1G>T
NM_003238.5(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063
NM_003465.3(CHIT1):c.1125C>A (p.Tyr375Ter)
NM_003470.3(USP7):c.675G>A (p.Met225Ile) rs1555465642
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410
NM_003573.2(LTBP4):c.2758G>C (p.Ala920Pro) rs1027642827
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007
NM_003620.3(PPM1D):c.1437dup (p.Lys480Ter) rs769754801
NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) rs45509691
NM_003688.3(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_003688.3(CASK):c.1480C>T (p.Gln494Ter) rs1064796879
NM_003688.3(CASK):c.2377C>T (p.Gln793Ter) rs749742837
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His)
NM_003764.4(STX11):c.616G>A (p.Glu206Lys) rs145347140
NM_003803.3(MYOM1):c.4148T>A (p.Ile1383Asn) rs374491316
NM_003848.3(SUCLG2):c.1082A>G (p.Asn361Ser)
NM_003900.5(SQSTM1):c.105_123dup (p.Gly42fs) rs1064794783
NM_003990.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.2(DMD):c.5082G>A (p.Trp1694Ter) rs1295394996
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7310-36C>T rs72466586
NM_004082.4(DCTN1):c.2680A>G (p.Asn894Asp) rs1437825772
NM_004082.4(DCTN1):c.3629C>T (p.Thr1210Ile)
NM_004104.5(FASN):c.1850C>T (p.Pro617Leu) rs45444391
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala)
NM_004119.2(FLT3):c.2211G>C (p.Met737Ile)
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) rs41495051
NM_004187.4(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004260.3(RECQL4):c.2817G>A (p.Ala939=) rs202045203
NM_004287.3(GOSR2):c.430G>T rs387906881
NM_004287.4(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004319.3(ASTN1):c.3515A>T (p.Glu1172Val) rs1553217993
NM_004321.7(KIF1A):c.1829C>T (p.Ala610Val) rs765812659
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) rs672601370
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) rs530569305
NM_004442.7(EPHB2):c.595C>T (p.Arg199Cys)
NM_004447.6(EPS8):c.104A>G (p.His35Arg) rs71532816
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361
NM_004493.2(HSD17B10):c.286G>A (p.Val96Met) rs965610533
NM_004525.3(LRP2):c.11114G>T (p.Cys3705Phe)
NM_004525.3(LRP2):c.2540G>A (p.Arg847His)
NM_004525.3(LRP2):c.5657A>G (p.Tyr1886Cys)
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786
NM_004563.4(PCK2):c.1468+2T>C rs148019349
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151
NM_004589.4(SCO1):c.769A>C (p.Ile257Leu) rs1234427803
NM_004595.5(SMS):c.665A>T (p.Asp222Val) rs1556001304
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004667.5(HERC2):c.7617+4A>C rs1567006110
NM_004688.3(NMI):c.912C>A (p.Tyr304Ter)
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr) rs1416942996
NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln) rs1558285391
NM_004859.4(CLTC):c.681+2dup
NM_004863.3(SPTLC2):c.768T>G (p.Ile256Met) rs879254003
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004972.3(JAK2):c.2571+5A>C
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_004996.4(ABCC1):c.1299G>T (p.Arg433Ser) rs60782127
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser) rs1562940963
NM_005094.4(SLC27A4):c.1052A>G (p.Asn351Ser)
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) rs900013674
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186
NM_005216.4(DDOST):c.1325T>A (p.Phe442Tyr)
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005235.3(ERBB4):c.2524C>T (p.Arg842Trp) rs1240072004
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970
NM_005343.4(HRAS):c.-10C>T rs41294870
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005393.3(PLXNB3):c.3005G>A (p.Arg1002His)
NM_005422.2(TECTA):c.2444C>T (p.Thr815Met) rs111759871
NM_005462.5(MAGEC1):c.984_1086del (p.Ser328fs) rs1556442387
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala) rs368665310
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005745.7(BCAP31):c.341+2T>G rs1064794057
NM_005802.5(TOPORS):c.2995A>T (p.Arg999Ter) rs1554671322
NM_005862.3(STAG1):c.1150G>C (p.Asp384His) rs1057524850
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala) rs371876622
NM_005908.4(MANBA):c.378+1G>A
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085
NM_006009.4(TUBA1A):c.1151T>A (p.Ile384Asn) rs1565626962
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213
NM_006031.6(PCNT):c.5341G>A (p.Gly1781Arg)
NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile) rs1566550951
NM_006070.6(TFG):c.302A>G (p.Gln101Arg)
NM_006178.4(NSF):c.1289C>T (p.Ala430Val) rs1568034157
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006248.4(PRB2):c.511C>T (p.Arg171Ter) rs201606820
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr)
NM_006420.2(ARFGEF2):c.1062_1067del (p.Glu354_Ser355del) rs1555810077
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006514.3(SCN10A):c.368C>G (p.Ala123Gly) rs537640516
NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr) rs780529723
NM_006516.3(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402
NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs) rs869312704
NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr) rs1553161980
NM_006624.5(ZMYND11):c.1262G>A (p.Ser421Asn) rs869320713
NM_006647.2(NOXA1):c.870dup (p.Pro291fs) rs773184989
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr) rs869312847
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)
NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser) rs886041418
NM_006821.5(ACOT2):c.983A>G (p.His328Arg)
NM_006846.3(SPINK5):c.964G>A (p.Asp322Asn) rs1561686908
NM_006852.4(TLK2):c.1832T>G (p.Leu611Arg)
NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs) rs1558427702
NM_006920.6(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) rs1553535457
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839
NM_006946.3(SPTBN2):c.3929G>A (p.Arg1310His)
NM_006946.3(SPTBN2):c.6109C>T (p.Arg2037Cys)
NM_006996.3(SLC19A2):c.319A>G (p.Ser107Gly) rs113927216
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) rs376736188
NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser) rs758835610
NM_007250.5(KLF8):c.646+3A>G rs758595312
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val)
NM_007294.3(BRCA1):c.1898C>T (p.Pro633Leu) rs398122647
NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007315.3(STAT1):c.274-4C>G rs377209172
NM_007315.3(STAT1):c.979A>G (p.Thr327Ala) rs1553495586
NM_007325.5(GRIA3):c.2324+645G>A rs1057521729
NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) rs1060500046
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_012186.3(FOXE3):c.575_580CGCCCG[1] (p.192_193AP[1])
NM_012193.4(FZD4):c.30_39CCCGGGGGCG[1] (p.Pro14fs) rs1555086007
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012275.2(IL36RN):c.338C>T (p.Ser113Leu) rs144478519
NM_012309.4(SHANK2):c.4590_4591CA[1] (p.Thr1531fs) rs1565526722
NM_012330.4(KAT6B):c.2448G>A (p.Thr816=) rs372149429
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg) rs1364705691
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.845G>A (p.Arg282His)
NM_013382.5(POMT2):c.936C>G (p.Asp312Glu)
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014008.5(CCDC22):c.1402C>G (p.Arg468Gly)
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) rs1554823375
NM_014191.4(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_014191.4(SCN8A):c.550A>G (p.Ile184Val) rs1029149299
NM_014225.6(PPP2R1A):c.539T>C (p.Met180Thr)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs) rs113994014
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly) rs104894425
NM_014271.4(IL1RAPL1):c.621_623AGA[1] (p.Glu208del) rs1064795372
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) rs1555762722
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) rs1566062847
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser)
NM_014370.4(SRPK3):c.1337T>G (p.Ile446Ser) rs1557068452
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014476.5(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310
NM_014611.3(MDN1):c.16547C>T (p.Ala5516Val) rs34750131
NM_014611.3(MDN1):c.4613A>C (p.Asn1538Thr) rs202131758
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613
NM_014889.4(PITRM1):c.2647C>T (p.Leu883Phe)
NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1292G>A (p.Arg431Gln) rs748779010
NM_014946.3(SPAST):c.1459A>C (p.Asn487His) rs1553318323
NM_014946.3(SPAST):c.1735A>C (p.Asn579His) rs144594804
NM_014974.3(DIP2C):c.692G>A (p.Arg231Gln)
NM_015021.3(ZNF292):c.1408A>G (p.Ile470Val) rs1166797338
NM_015047.3(EMC1):c.2087G>A (p.Trp696Ter) rs1558096194
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_015120.4(ALMS1):c.7743G>C (p.Glu2581Asp)
NM_015120.4(ALMS1):c.9086G>A (p.Cys3029Tyr)
NM_015158.4(KANK1):c.1811G>A (p.Ser604Asn) rs754470891
NM_015225.3(PRUNE2):c.337C>A (p.Leu113Met) rs1554808146
NM_015243.2(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414
NM_015265.4(SATB2):c.19dup (p.Ser7fs) rs1553507389
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis)
NM_015470.3(RAB11FIP5):c.1856G>A (p.Arg619Gln) rs868507082
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015512.5(DNAH1):c.550G>T (p.Gly184Cys)
NM_015559.3(SETBP1):c.1568del (p.His523fs) rs886041469
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015560.2(OPA1):c.1712G>A (p.Arg571His) rs140606054
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.871G>C (p.Val291Leu) rs1553876590
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170
NM_015937.6(PIGT):c.918dup (p.Val307fs) rs751861982
NM_015937.6(PIGT):c.988C>T (p.Arg330Ter) rs201317502
NM_016011.4(MECR):c.-36-3G>C rs749435497
NM_016011.4(MECR):c.830+2dup rs756421370
NM_016069.11(PAM16):c.112C>G (p.Arg38Gly) rs1314983113
NM_016194.4(GNB5):c.348_352del (p.Asp116fs) rs1085307675
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
NM_016434.3(RTEL1):c.2956del (p.Arg986fs) rs1285014916
NM_016447.4(MPP6):c.917del (p.Lys306fs) rs757450051
NM_016640.4(MRPS30):c.674G>A (p.Arg225Gln)
NM_017514.5(PLXNA3):c.1985C>T (p.Thr662Met) rs1343189326
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp)
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu)
NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) rs1060502237
NM_017671.4(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078
NM_017671.4(FERMT1):c.1812G>A (p.Trp604Ter) rs1172664527
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017857.4(SSH3):c.1383_1384dup (p.Ile462fs)
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319
NM_017888.3(ACSM5):c.1157A>C (p.Lys386Thr)
NM_017890.4(VPS13B):c.3397C>T (p.Pro1133Ser) rs781781537
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921
NM_017934.7(PHIP):c.2319+1del
NM_017934.7(PHIP):c.600+1del rs1554210066
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) rs773745635
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758
NM_018091.6(ELP3):c.686del (p.Lys229fs) rs764649021
NM_018091.6(ELP3):c.893T>G (p.Ile298Ser) rs764954376
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018122.5(DARS2):c.128-5T>A rs200078808
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn) rs1209550754
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln) rs121918207
NM_018133.4(MSL2):c.73C>T (p.Pro25Ser) rs745561575
NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile) rs1557332788
NM_018249.6(CDK5RAP2):c.4129G>T (p.Asp1377Tyr)
NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002
NM_018307.4(RHOT1):c.1739+2958G>A
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018328.4(MBD5):c.709A>G (p.Ile237Val) rs751251720
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
NM_018398.3(CACNA2D3):c.3071C>T (p.Pro1024Leu) rs1447772102
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) rs148668081
NM_019023.4(PRMT7):c.1056-1G>T rs201824659
NM_019023.4(PRMT7):c.820C>T (p.Arg274Ter)
NM_019030.4(DHX29):c.629A>G (p.Tyr210Cys)
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met) rs554811993
NM_020311.3(ACKR3):c.772G>A (p.Val258Met)
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly) rs1553262641
NM_020442.5(VARS2):c.1850C>T (p.Thr617Met) rs367837827
NM_020549.4(CHAT):c.1451G>A (p.Arg484Gln)
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020686.6(ABAT):c.448-1G>T rs1555491838
NM_020699.4(GATAD2B):c.1196del (p.Gln399fs) rs1553188054
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020721.1(KIAA1210):c.997T>G (p.Ser333Ala) rs369956899
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser) rs77973158
NM_020746.5(MAVS):c.1189G>A (p.Ala397Thr)
NM_020751.3(COG6):c.851C>G (p.Ala284Gly)
NM_020783.4(SYT4):c.1del (p.Met1fs) rs779678442
NM_020791.2(TAOK1):c.825_826insCT (p.Leu276_Lys277insTer) rs1555564792
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)
NM_020920.4(CHD8):c.2471G>T (p.Gly824Val) rs1064795655
NM_020925.4(CACHD1):c.293G>A (p.Arg98His) rs201614737
NM_020925.4(CACHD1):c.3244+3A>G
NM_020928.2(ZSWIM6):c.1906G>A (p.Val636Met)
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020937.4(FANCM):c.1880G>A (p.Arg627Gln)
NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) rs144008013
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro) rs750984776
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_021076.4(NEFH):c.1054C>A (p.Arg352Ser) rs149955255
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn) rs61056448
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr) rs375010790
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398
NM_021126.6(MPST):c.314A>G (p.Tyr105Cys)
NM_021625.4(TRPV4):c.617G>A (p.Arg206His)
NM_022089.4(ATP13A2):c.*24C>T rs375521810
NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)
NM_022095.4(ZNF335):c.2168_2170TCT[1] (p.Phe724del) rs773283542
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly) rs200635860
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022369.4(STRA6):c.1964G>A (p.Arg655His) rs397514639
NM_022552.4(DNMT3A):c.1913C>G (p.Ser638Cys) rs1253868717
NM_022915.4(MRPL44):c.496G>A (p.Val166Met)
NM_022915.4(MRPL44):c.584T>C (p.Phe195Ser) rs1553539922
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln)
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095
NM_024652.6(LRRK1):c.5870+1G>C
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024678.6(NARS2):c.595-6T>G rs774848576
NM_024721.5(ZFHX4):c.5362G>A (p.Val1788Ile) rs200415399
NM_024721.5(ZFHX4):c.7316C>G (p.Pro2439Arg) rs1354750315
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_025137.4(SPG11):c.6586-7T>C rs1057524222
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025233.7(COASY):c.-1C>T rs147852474
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) rs1555742500
NM_030632.3(ASXL3):c.2074G>C (p.Ala692Pro) rs1212866279
NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter) rs377619533
NM_030653.4(DDX11):c.1888del (p.Arg630fs) rs766936952
NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter)
NM_030662.3(MAP2K2):c.453C>T (p.Asp151=) rs17851657
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_030662.3(MAP2K2):c.919+12A>G rs350911
NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) rs1537044
NM_030928.4(CDT1):c.1154G>A (p.Arg385His) rs143840572
NM_031407.7(HUWE1):c.10775C>G (p.Ser3592Cys)
NM_031466.7(TRAPPC9):c.3443G>A (p.Arg1148Gln) rs111768745
NM_031475.3(ESPN):c.1797_1808del (p.Pro602_Pro605del) rs548962140
NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843
NM_032408.4(BAZ1B):c.3071+1G>T rs1554571044
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) rs768091663
NM_032504.1(UNC80):c.2527C>T (p.Arg843Ter) rs74517001
NM_032504.1(UNC80):c.653T>C (p.Met218Thr) rs761062440
NM_032531.4(KIRREL3):c.1238C>T (p.Thr413Ile) rs1565456303
NM_032620.4(GTPBP3):c.1057G>A (p.Val353Ile) rs77401427
NM_032634.4(PIGO):c.2026G>A (p.Ala676Thr) rs1465665122
NM_032634.4(PIGO):c.2092G>A (p.Glu698Lys)
NM_032683.3(MPV17L2):c.32G>A (p.Arg11His)
NM_033017.4(TRIM4):c.1450del (p.Trp484fs) rs1254691563
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352
NM_033132.4(ZIC5):c.83C>T (p.Pro28Leu)
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009
NM_033360.4(KRAS):c.512T>C (p.Ile171Thr) rs1057517885
NM_033429.2(CALML4):c.583delG rs772664987
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3764_3776del (p.Arg1255fs) rs886041238
NM_033540.3(MFN1):c.677G>A (p.Arg226Gln)
NM_033656.4(BRWD1):c.3904C>T (p.His1302Tyr)
NM_052850.4(GADD45GIP1):c.26G>A (p.Arg9His)
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446
NM_052874.5(STX1B):c.736G>C (p.Ala246Pro) rs1567376699
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053274.3(GLMN):c.978-4T>C rs750401776
NM_057174.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_078480.3(PUF60):c.503_509del (p.Lys168fs) rs1563825893
NM_080424.2(SP110):c.342C>A (p.Ser114Arg) rs1559178549
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val) rs376797260
NM_080679.2(COL11A2):c.4174G>A (p.Glu1392Lys) rs727504543
NM_080679.2(COL11A2):c.798+836C>T rs876657443
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003
NM_130468.3(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130838.3(UBE3A):c.1184_1193dup (p.Gly399fs) rs886041603
NM_133259.4(LRPPRC):c.2610G>C (p.Glu870Asp)
NM_133261.3(GIPC3):c.192G>A (p.Lys64=) rs876657466
NM_133497.4(KCNV2):c.148A>C (p.Asn50His) rs757537568
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138403.5(MYL10):c.565C>T (p.Arg189Cys)
NM_138420.4(AHNAK2):c.3336_3337insA (p.Pro1113fs) rs1555402051
NM_138441.3(CGAS):c.265_266dup (p.Gln89fs)
NM_138576.4(BCL11B):c.1365_1367del (p.Tyr455_Lys456delinsTer)
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899
NM_138694.4(PKHD1):c.1328A>G (p.Lys443Arg) rs1554217772
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs) rs398124484
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337
NM_138732.3(NRXN2):c.4855A>C (p.Lys1619Gln)
NM_138927.3(SON):c.2365del (p.Ser789fs) rs1555898531
NM_138995.5(MYO3B):c.800A>G (p.Asn267Ser) rs34509373
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197
NM_144612.6(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144687.3(NLRP12):c.1027C>T (p.Arg343Trp) rs112159191
NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His) rs72875762
NM_144991.3(TSPEAR):c.1675T>C (p.Tyr559His)
NM_144991.3(TSPEAR):c.542+15G>A rs587599565
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys)
NM_145331.3(MAP3K7):c.721T>G (p.Trp241Gly) rs886039237
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln)
NM_152781.4(HEATR9):c.400C>T (p.Arg134Ter) rs116191233
NM_152891.2(PRSS33):c.531G>A (p.Trp177Ter) rs911248455
NM_153006.3(NAGS):c.*3C>T rs186636
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447
NM_153006.3(NAGS):c.1451+9T>C rs228773
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile)
NM_153614.3(DNAJB13):c.173-1G>A rs1565171522
NM_170675.5(MEIS2):c.992_994GAA[2] (p.Arg333del) rs879255264
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555
NM_170707.4(LMNA):c.1564T>C (p.Cys522Arg)
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_172107.4(KCNQ2):c.691-13G>A rs547887704
NM_172171.2(CAMK2G):c.286G>A (p.Gly96Arg) rs772531683
NM_173591.3(OTOGL):c.1558C>T (p.Gln520Ter) rs371465450
NM_174911.5(LRATD2):c.391_392dup (p.His132fs) rs1554597029
NM_175875.5(SIX5):c.1464C>G (p.Pro488=)
NM_176869.3(PPA2):c.64A>G (p.Thr22Ala)
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016
NM_177963.4(SYT12):c.791C>T (p.Pro264Leu) rs201856506
NM_177986.5(DSG4):c.1198G>A (p.Gly400Arg)
NM_178550.4(CCDC190):c.88C>T (p.Gln30Ter)
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)
NM_178862.3(STT3B):c.895A>G (p.Ile299Val)
NM_181334.5(PRR5-ARHGAP8):c.*157_*164del
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)
NM_182490.3(ZNF227):c.2233A>T (p.Lys745Ter) rs1555794654
NM_182524.4(ZNF595):c.572del (p.Thr191fs) rs1553801175
NM_182524.4(ZNF595):c.574_575insA (p.Gly192fs) rs1553801178
NM_182588.2(RGPD4):c.1335G>A (p.Trp445Ter) rs1306583979
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs)
NM_198080.4(MSRB3):c.101C>T (p.Ser34Leu) rs370812570
NM_198080.4(MSRB3):c.285-1G>A rs201306709
NM_198137.1(CATSPER4):c.523G>T (p.Glu175Ter)
NM_198179.3(QRFPR):c.1025del (p.Asn342fs) rs545337361
NM_198253.2(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.2(TERT):c.544A>T (p.Thr182Ser) rs878855305
NM_198443.2(NRN1L):c.345C>A (p.Cys115Ter)
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp)
NM_198529.4(EFCAB5):c.42+1G>A
NM_198903.2(GABRG2):c.1149C>A (p.Phe383Leu) rs796052511
NM_199189.2(MATR3):c.341G>C (p.Ser114Thr) rs1554146456
NM_199292.3(TH):c.1348G>A (p.Val450Met) rs184106392
NM_201596.3(CACNB2):c.120+360G>C rs1064795457
NM_203342.2(EPB41):c.1378G>C (p.Ala460Pro)
NM_203447.3(DOCK8):c.2383G>C (p.Val795Leu)
NM_203447.3(DOCK8):c.2971-5C>T rs373718659
NM_206967.3(C16orf74):c.84_103del (p.Asn29fs) rs767753044
NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) rs1555409014
NM_207037.2(TCF12):c.2006G>T (p.Cys669Phe)
NM_212482.3(FN1):c.5651A>G (p.Tyr1884Cys)
NM_213599.2(ANO5):c.1081G>C (p.Asp361His) rs1554929295
NM_213599.2(ANO5):c.304_308del (p.Lys102fs) rs776859202
NM_213599.2(ANO5):c.989dup (p.Leu330fs) rs398124626
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu) rs775332895
Single allele
m.12297T>C rs121434464
m.1438A>G rs2001030
m.4216T>C rs1599988
m.5874T>C rs118203891

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.