ClinVar Miner

List of variants reported as likely pathogenic by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 561
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_020745.4(AARS2):c.1534G>C (p.Asp512His) rs146512155 0.00073
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_002979.5(SCP2):c.825+1G>T rs144132787 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_003124.5(SPR):c.524C>A (p.Ala175Asp) rs1453510719 0.00006
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys) rs758814013 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_002900.3(RBP3):c.3341G>A (p.Arg1114Gln) rs201185969 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) rs779150755 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser) rs893004444 0.00004
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233 0.00003
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393 0.00003
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859 0.00003
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_024306.5(FA2H):c.133G>T (p.Gly45Trp) rs1247665387 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000091.5(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000092.5(COL4A4):c.4808T>C (p.Met1603Thr) rs377058706 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001244008.2(KIF1A):c.2909G>A (p.Arg970His) rs201742042 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn) rs774419889 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001379659.1(ZNF142):c.5254C>T (p.Arg1752Cys) rs756225038 0.00001
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003285.3(TNR):c.1189G>A (p.Ala397Thr) rs750577544 0.00001
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006346.4(PIBF1):c.1133A>C (p.His378Pro) rs147863910 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) rs767581950 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu) rs775044452 0.00001
NM_014762.4(DHCR24):c.1504G>A (p.Ala502Thr) rs915474087 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) rs1555988314 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His) rs1429546236 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro) rs912256328 0.00001
NM_176787.5(PIGN):c.2062A>C (p.Ser688Arg) rs1251827296 0.00001
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)
GRCh37/hg19 3q29(chr3:196033814-196033883)
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000021.4(PSEN1):c.356C>T (p.Thr119Ile) rs1566630791
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) rs794728044
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1814G>T (p.Gly605Val)
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2126-1G>C rs2071831565
NM_000091.5(COL4A3):c.2558G>C (p.Gly853Ala)
NM_000091.5(COL4A3):c.2711G>A (p.Gly904Glu)
NM_000091.5(COL4A3):c.2864G>T (p.Gly955Val)
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000091.5(COL4A3):c.370G>C (p.Gly124Arg)
NM_000092.5(COL4A4):c.10_11del (p.Leu4fs)
NM_000092.5(COL4A4):c.1846G>C (p.Gly616Arg)
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2383+1G>A
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.4809+1G>C
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp) rs760795817
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000138.5(FBN1):c.2374T>C (p.Cys792Arg) rs2141305039
NM_000138.5(FBN1):c.5925T>A (p.Asn1975Lys)
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000162.5(GCK):c.911T>C (p.Leu304Pro) rs1554334894
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) rs1579626395
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly) rs11551260
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg) rs1587950355
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) rs974712040
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000257.4(MYH7):c.2642T>G (p.Leu881Arg) rs1566531303
NM_000278.5(PAX2):c.43+5G>A rs878853000
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000314.8(PTEN):c.103A>C (p.Met35Leu) rs876659443
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser) rs121909223
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
NM_000346.4(SOX9):c.515A>G (p.Tyr172Cys) rs1555629158
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp) rs1591705863
NM_000360.4(TH):c.407T>A (p.Val136Glu) rs1590169802
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) rs1554901580
NM_000405.5(GM2A):c.364G>A (p.Gly122Arg)
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
NM_000431.4(MVK):c.768+4A>G rs1295630463
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) rs1580746829
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) rs1580744791
NM_000444.6(PHEX):c.1966-9_1966-7del rs1556151004
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp) rs74315468
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg) rs1600649879
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile) rs1577800481
NM_000817.3(GAD1):c.1370G>A (p.Arg457His)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
NM_000884.3(IMPDH2):c.338G>A (p.Gly113Glu)
NM_000899.5(KITLG):c.106A>C (p.Asn36His)
NM_000899.5(KITLG):c.16-2A>G
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001003800.2(BICD2):c.1673G>C (p.Arg558Pro) rs1263279945
NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val) rs1970460175
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln) rs1567863732
NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)
NM_001007553.3(CSDE1):c.2134C>T (p.Gln712Ter) rs1659401492
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001029896.2(WDR45):c.950_951dup (p.Lys318fs) rs1557083878
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro) rs1588306948
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg) rs1574731380
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys) rs1603150613
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001079668.3(NKX2-1):c.303_319del (p.Ala103fs) rs1594407006
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001083619.3(GRIA2):c.2188A>T (p.Asn730Tyr)
NM_001083619.3(GRIA2):c.2251A>G (p.Lys751Glu) rs1736569883
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001101.5(ACTB):c.269_271del (p.Phe90del) rs1554329546
NM_001101.5(ACTB):c.4G>T (p.Asp2Tyr) rs1784841309
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001113482.2(MANEAL):c.446dup (p.Asp150fs) rs1414490641
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001126108.2(SLC12A3):c.1335+1_1335+6del rs759801838
NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn) rs1175745274
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.4591-2A>G rs1600180659
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del) rs1057519248
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)
NM_001165963.4(SCN1A):c.4476+5G>T rs1553522266
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001174147.2(LMX1B):c.796T>C (p.Trp266Arg) rs1588307482
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) rs1572764698
NM_001244008.2(KIF1A):c.1139G>C (p.Arg380Pro) rs759791775
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly) rs1596443241
NM_001273.5(CHD4):c.637A>G (p.Ser213Gly) rs1948590484
NM_001276345.2(TNNT2):c.644G>C (p.Arg215Pro) rs121964860
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) rs542852839
NM_001278716.2(FBXL4):c.1540T>G (p.Trp514Gly) rs1411907961
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) rs1163577336
NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) rs1275309683
NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp) rs2044199885
NM_001292034.3(TAB2):c.878del (p.Ser293fs) rs1554263268
NM_001303.4(COX10):c.661A>G (p.Thr221Ala) rs1597527946
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001320.7(CSNK2B):c.592dup (p.Gln198fs)
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001330260.2(SCN8A):c.2546T>A (p.Leu849His) rs1592149711
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu) rs1592324196
NM_001348768.2(HECW2):c.3829T>C (p.Tyr1277His) rs1575255333
NM_001348768.2(HECW2):c.4321T>C (p.Phe1441Leu) rs1575240506
NM_001353345.2(SETD1B):c.5828A>G (p.Tyr1943Cys) rs1877026008
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) rs1577993720
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001368882.1(COL13A1):c.685-1164T>C rs1554943789
NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001375380.1(EBF3):c.656T>C (p.Val219Ala) rs1852554969
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro) rs1555411394
NM_001376.5(DYNC1H1):c.1195A>G (p.Arg399Gly) rs1595599240
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2266C>A (p.Pro756Thr) rs1598408336
NM_001378418.1(TCF20):c.3943_3944del (p.Asp1315fs)
NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg) rs1758225061
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser) rs1450090350
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001385079.1(PDE10A):c.1450C>T (p.Arg484Trp) rs1332740547
NM_001386135.1(AFF3):c.713T>G (p.Met238Arg) rs1682014084
NM_001395002.1(MAP4K4):c.3458_3459del (p.Val1153fs)
NM_001399.5(EDA):c.526+1del rs1602614410
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile) rs751468976
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001605.3(AARS1):c.1171C>T (p.Arg391Cys) rs147580372
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001615.4(ACTG2):c.348C>A (p.Asn116Lys) rs757905857
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys) rs2124857065
NM_001689.5(ATP5MC3):c.318C>G (p.Asn106Lys) rs757411192
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser) rs1602159841
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) rs1877796592
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) rs1594088780
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001853.4(COL9A3):c.183+4A>C rs1555821817
NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)
NM_002070.4(GNAI2):c.544A>C (p.Thr182Pro)
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn) rs1646697327
NM_002181.4(IHH):c.1A>G (p.Met1Val)
NM_002317.7(LOX):c.389C>A (p.Ser130Ter)
NM_002317.7(LOX):c.681C>G (p.Tyr227Ter)
NM_002361.4(MAG):c.1522C>T (p.Arg508Ter) rs2066519362
NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr) rs1591695781
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002715.4(PPP2CA):c.722A>G (p.His241Arg) rs1580636613
NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)
NM_002764.4(PRPS1):c.433T>G (p.Leu145Val) rs768454424
NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu) rs1592852902
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002900.3(RBP3):c.1472del (p.Leu491fs)
NM_002971.6(SATB1):c.542C>T (p.Pro181Leu)
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu) rs766945941
NM_003051.4(SLC16A1):c.41del (p.Pro14fs)
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003124.5(SPR):c.381C>G (p.Asn127Lys) rs1366748724
NM_003285.3(TNR):c.1594G>A (p.Asp532Asn) rs892080402
NM_003321.5(TUFM):c.989G>C (p.Arg330Pro) rs924099073
NM_003403.5(YY1):c.1118A>G (p.His373Arg) rs1891340236
NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs) rs1555187452
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.8443dup (p.Gln2815fs) rs1943354251
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser) rs1557107543
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_003791.4(MBTPS1):c.955G>T (p.Val319Phe) rs2086110956
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) rs1584700882
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) rs1584546494
NM_004006.3(DMD):c.78T>G (p.Asn26Lys) rs794727272
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys) rs2129044284
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004397.6(DDX6):c.1052C>T (p.Ala351Val)
NM_004493.3(HSD17B10):c.517G>C (p.Gly173Arg) rs1602426573
NM_004523.4(KIF11):c.1305+1G>A rs1589600695
NM_004539.4(NARS1):c.616G>A (p.Glu206Lys)
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) rs727503470
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)
NM_004985.5(KRAS):c.440A>T (p.Lys147Met)
NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser) rs1596351849
NM_005006.7(NDUFS1):c.988-2A>C
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
NM_005199.5(CHRNG):c.292_300dup (p.Leu100_Arg101insTrpValLeu)
NM_005199.5(CHRNG):c.351-2A>G
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr) rs1594384249
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
NM_005402.4(RALA):c.472G>A (p.Ala158Thr)
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005604.4(POU3F2):c.812A>T (p.Glu271Val) rs1769989432
NM_005612.5(REST):c.2770C>T (p.Gln924Ter) rs1284461687
NM_005618.4(DLL1):c.1903del (p.Arg635fs)
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) rs1753211889
NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del) rs1763043820
NM_005859.5(PURA):c.565G>C (p.Ala189Pro) rs1581036496
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005918.4(MDH2):c.755C>T (p.Ala252Val)
NM_005918.4(MDH2):c.884G>T (p.Gly295Val)
NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly) rs752953575
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_005993.5(TBCD):c.2380-1G>A rs1599617641
NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser) rs886041015
NM_006087.4(TUBB4A):c.1065C>A (p.Asp355Glu) rs1599405952
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
NM_006236.3(POU3F3):c.1217A>G (p.Lys406Arg) rs1676574002
NM_006265.3(RAD21):c.497A>G (p.Asp166Gly) rs1586268625
NM_006295.3(VARS1):c.3344C>G (p.Thr1115Arg) rs373279419
NM_006302.3(MOGS):c.1880T>C (p.Leu627Pro) rs757997140
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer) rs1570590905
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) rs1161257134
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser) rs1407198979
NM_006567.5(FARS2):c.192C>G (p.Ser64Arg) rs1554169280
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) rs1591833522
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe) rs1579522661
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
NM_007327.4(GRIN1):c.352G>A (p.Val118Met) rs1588686286
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)
NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys) rs1033653237
NM_012123.4(MTO1):c.963A>C (p.Lys321Asn) rs1554148965
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr) rs1812971156
NM_014225.6(PPP2R1A):c.430C>T (p.Arg144Cys) rs2122329969
NM_014239.4(EIF2B2):c.946G>T (p.Val316Phe) rs761055346
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014516.4(CNOT3):c.93G>A (p.Lys31=) rs2074521998
NM_014625.4(NPHS2):c.379G>A (p.Val127Ile) rs1572282458
NM_014727.3(KMT2B):c.1603C>T (p.Arg535Cys)
NM_014727.3(KMT2B):c.3632G>A (p.Gly1211Glu) rs1599679995
NM_014727.3(KMT2B):c.3700G>A (p.Glu1234Lys) rs1599680351
NM_014727.3(KMT2B):c.4847C>T (p.Ala1616Val) rs1599687853
NM_014727.3(KMT2B):c.7693C>G (p.Arg2565Gly)
NM_014762.4(DHCR24):c.1532G>A (p.Cys511Tyr) rs200415528
NM_014795.4(ZEB2):c.899A>G (p.His300Arg) rs1573718595
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_015135.3(NUP205):c.3329T>C (p.Leu1110Pro) rs1584675898
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015559.3(SETBP1):c.3802G>T (p.Gly1268Trp)
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro) rs1585653240
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp) rs1571323203
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) rs1554264977
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_016284.5(CNOT1):c.550del (p.Leu184fs)
NM_016580.4(PCDH12):c.311G>A (p.Cys104Tyr)
NM_016604.4(KDM3B):c.2743_2745del (p.Arg915del)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) rs1570013257
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018127.7(ELAC2):c.1028T>G (p.Met343Arg) rs1555575927
NM_018127.7(ELAC2):c.929A>C (p.Glu310Ala) rs1555576642
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) rs1554405947
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_019042.5(PUS7):c.99_100del (p.Lys34fs) rs765326959
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020442.6(VARS2):c.1400G>C (p.Arg467Pro) rs775439829
NM_020442.6(VARS2):c.1463_1465del (p.Gly488del) rs1554268077
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro) rs1170907347
NM_020791.4(TAOK1):c.1263_1264dup (p.Pro422fs)
NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg)
NM_021964.3(ZNF148):c.845A>G (p.Asp282Gly) rs1579578234
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) rs1889499325
NM_022489.4(INF2):c.529C>T (p.Arg177Cys) rs1595166085
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_022575.4(VPS16):c.1389C>G (p.Tyr463Ter) rs2146673211
NM_022575.4(VPS16):c.1988_1989insG (p.Asn663fs)
NM_023110.3(FGFR1):c.287C>G (p.Ser96Cys)
NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp) rs757503048
NM_024063.3(AFG2B):c.1973G>A (p.Arg658Lys) rs1890623871
NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg) rs1890625577
NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)
NM_024426.6(WT1):c.1268A>G (p.Glu423Gly)
NM_024426.6(WT1):c.523G>T (p.Gly175Cys) rs1590409377
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup) rs1715105181
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025137.4(SPG11):c.3454-28A>G
NM_030632.3(ASXL3):c.3014_3015dup (p.Glu1006fs) rs1599566942
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) rs2132929609
NM_031418.4(ANO3):c.1943A>G (p.Asn648Ser) rs1590658782
NM_031418.4(ANO3):c.1969G>A (p.Ala657Thr) rs1478393931
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser) rs1582392486
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.2104G>C (p.Gly702Arg)
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.3008G>T (p.Gly1003Val)
NM_033380.3(COL4A5):c.3499G>A (p.Gly1167Ser) rs104886236
NM_033380.3(COL4A5):c.4808A>G (p.Tyr1603Cys) rs104886298
NM_033380.3(COL4A5):c.538G>A (p.Gly180Arg) rs281874755
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_033380.3(COL4A5):c.817G>A (p.Gly273Arg)
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_033380.3(COL4A5):c.919G>C (p.Gly307Arg)
NM_033380.3(COL4A5):c.956G>T (p.Gly319Val)
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) rs1600509558
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn) rs781210585
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter) rs2123205373
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu) rs140334403
NM_138576.4(BCL11B):c.1742del (p.Gly581fs) rs1886447945
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_145207.3(AFG2A):c.2384C>G (p.Pro795Arg) rs1553934697
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) rs1599706511
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro) rs778303947
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)
NM_153332.4(ERI1):c.730C>T (p.Gln244Ter) rs766625084
NM_153766.3(KCNJ1):c.251C>T (p.Ala84Val)
NM_170665.4(ATP2A2):c.2381T>A (p.Val794Asp) rs1592864859
NM_170707.4(LMNA):c.134A>G (p.Tyr45Cys) rs58436778
NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro) rs1553265999
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr) rs1555853970
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_177559.3(CSNK2A1):c.154G>A (p.Glu52Lys) rs2018549058
NM_178014.4(TUBB):c.139A>G (p.Ile47Val) rs1776361528
NM_178014.4(TUBB):c.448C>T (p.Leu150Phe) rs1581668624
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) rs1595795343
NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) rs367817034
NM_182931.3(KMT2E):c.4743_4744del (p.Phe1582fs)
NM_182961.4(SYNE1):c.4310+1G>A
NM_183357.3(ADCY5):c.1322C>T (p.Ala441Val) rs1576606282
NM_183357.3(ADCY5):c.1378A>T (p.Ile460Phe) rs1576606182
NM_183357.3(ADCY5):c.2071A>G (p.Lys691Glu) rs1553726054
NM_197968.4(ZMYM2):c.1309G>T (p.Glu437Ter)
NM_197968.4(ZMYM2):c.1398C>A (p.Cys466Ter)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys) rs1572531730
NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
NM_207037.2(TCF12):c.381del (p.Gly128fs)

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