ClinVar Miner

List of variants reported as pathogenic for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val) rs150539474 0.00011
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_052988.5(CDK10):c.870_871del (p.Trp291fs) rs766960979 0.00011
NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) rs372392424 0.00010
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_052988.5(CDK10):c.609-1G>A rs767176610 0.00004
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) rs373145711 0.00003
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr) rs149170494 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter) rs1361356353 0.00003
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001127178.3(PIGG):c.1994del (p.Cys665fs) rs755634856 0.00002
NM_001127178.3(PIGG):c.2041C>T (p.Arg681Trp) rs899791968 0.00002
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys) rs1064795656 0.00002
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) rs373221034 0.00002
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter) rs758691852 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_152564.5(VPS13B):c.1079del (p.Asp360fs) rs767518464 0.00002
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter) rs180177354 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) rs786204533 0.00002
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs) rs763909903 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_001003694.2(BRPF1):c.2497C>T (p.Arg833Ter) rs1057519512 0.00001
NM_001079872.2(CUL4B):c.95C>T (p.Pro32Leu) rs869320682 0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044 0.00001
NM_001127178.3(PIGG):c.1640G>A (p.Trp547Ter) rs547951371 0.00001
NM_001127178.3(PIGG):c.1803del (p.Asp601fs) rs1377893089 0.00001
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980 0.00001
NM_001127178.3(PIGG):c.352C>T (p.Arg118Ter) rs782124562 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127178.3(PIGG):c.624G>A (p.Trp208Ter) rs1553880152 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter) rs869320772 0.00001
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041 0.00001
NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser) rs1276905604 0.00001
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys) rs748764171 0.00001
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln) rs1471482709 0.00001
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter) rs1064797099 0.00001
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu) rs767354861 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_015338.6(ASXL1):c.2893C>T (p.Arg965Ter) rs397515401 0.00001
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter) rs765998879 0.00001
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622 0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) rs762515973 0.00001
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) rs751670999 0.00001
NM_052988.5(CDK10):c.1070G>A (p.Arg357His) rs772157816 0.00001
NM_052988.5(CDK10):c.664_665del (p.Met222fs) rs767050911 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter) rs1451352816 0.00001
NM_152564.5(VPS13B):c.11216-1G>C rs1057517441 0.00001
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs) rs1485428182 0.00001
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter) rs774376104 0.00001
NM_152564.5(VPS13B):c.11501del (p.Met3834fs) rs1394681818 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.11746-1G>A rs372327659 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter) rs567092790 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter) rs1156390688 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.4745+1G>A rs1469729130 0.00001
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter) rs386834093 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter) rs1057516633 0.00001
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs) rs1829394659 0.00001
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs) rs886041586 0.00001
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter) rs386834099 0.00001
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs) rs754016783 0.00001
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter) rs1293372026 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs) rs748404277 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7429+1G>A rs386834106 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter) rs766484806 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter) rs386834112 0.00001
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter) rs755996065 0.00001
GATAD2B, ASN195LYSfsTER30
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
GRCh37/hg19 17p11.2(chr17:16651292-20286898)
GRCh37/hg19 17p11.2(chr17:16842991-20217316)
GRCh37/hg19 17p11.2(chr17:17145361-20137943)
GRCh37/hg19 17p11.2(chr17:17151140-20187953)
GRCh37/hg19 1q21.3(chr1:153701504-154218584)
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526)
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106)
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)
GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1
GRCh37/hg19 2q33.1(chr2:200213361-200233633)
GRCh37/hg19 7p22.1(chr7:6385256-6431775)
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
GRCh37/hg19 Xq28(chrX:152372767-155233731)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
GRCh38/hg38 12q24.21(chr12:115996285-116022906)x3
GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
GRCh38/hg38 16q22.1(chr16:67623831-67627229)x1
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xq24(chrX:119539765-119707314)x0
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
GRCh38/hg38 Xq28(chrX:153905292-154361918)
GRCh38/hg38 Xq28(chrX:154895862-155336084)
NC_000001.10:g.(?_153753742)_(153791156_?)del
NC_000001.11:g.27491184_27584566del
NC_000002.11:g.(?_145147018)_(145753167_?)del
NC_000002.11:g.(?_145153959)_(145158894_?)del
NC_000002.11:g.(?_145274825)_(145274988_?)del
NC_000002.11:g.(?_200136914)_(200320780_?)del
NC_000002.11:g.(?_200136934)_(200320760_?)del
NC_000002.11:g.(?_200173463)_(200320760_?)del
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup
NC_000002.12:g.(?_144517258)_(144517420_?)del
NC_000002.12:g.(?_144517278)_(144517419_?)del
NC_000002.12:g.(?_199348681)_(199433534_?)del
NC_000003.12:g.70992485_71180270del
NC_000004.11:g.(?_493125)_(501402_?)del
NC_000004.11:g.(?_493125)_(663896_?)del
NC_000004.11:g.(?_493125)_(998181_?)del
NC_000004.11:g.(?_494165)_(494410_?)del
NC_000004.11:g.(?_501174)_(533158_?)del
NC_000004.11:g.(?_502598)_(509994_?)del
NC_000004.11:g.(?_509742)_(533158_?)del
NC_000004.11:g.(?_520808)_(1020391_?)del
NC_000004.11:g.(?_524205)_(527790_?)del
NC_000007.13:g.(69985843_69991859)_(70221259_70228020)del
NC_000007.14:g.(69899499_70118132)_(70134571_70435751)del
NC_000007.14:g.(70435782_70698569)_(70766334_70768023)del
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
NC_000008.10:g.(?_100025484)_(100026173_?)del
NC_000008.10:g.(?_100026017)_(100026183_?)del
NC_000008.10:g.(?_100026017)_(100887894_?)del
NC_000008.10:g.(?_100050631)_(100115368_?)del
NC_000008.10:g.(?_100050631)_(100155413_?)del
NC_000008.10:g.(?_100050631)_(100205305_?)del
NC_000008.10:g.(?_100108520)_(100108680_?)del
NC_000008.10:g.(?_100108520)_(100115368_?)del
NC_000008.10:g.(?_100108520)_(100155413_?)dup
NC_000008.10:g.(?_100108520)_(100403952_?)del
NC_000008.10:g.(?_100108530)_(100128112_?)del
NC_000008.10:g.(?_100108530)_(100155403_?)dup
NC_000008.10:g.(?_100108530)_(100182401_?)del
NC_000008.10:g.(?_100108530)_(100205295_?)del
NC_000008.10:g.(?_100108530)_(100287492_?)del
NC_000008.10:g.(?_100108530)_(100494040_?)del
NC_000008.10:g.(?_100115161)_(100123527_?)del
NC_000008.10:g.(?_100115944)_(100711757_?)del
NC_000008.10:g.(?_100123306)_(100168991_?)del
NC_000008.10:g.(?_100123306)_(100182411_?)del
NC_000008.10:g.(?_100123306)_(100403952_?)del
NC_000008.10:g.(?_100123316)_(100123517_?)del
NC_000008.10:g.(?_100127908)_(100287502_?)del
NC_000008.10:g.(?_100133385)_(100133693_?)del
NC_000008.10:g.(?_100133395)_(100134000_?)del
NC_000008.10:g.(?_100146840)_(100403952_?)del
NC_000008.10:g.(?_100146850)_(100221906_?)del
NC_000008.10:g.(?_100146850)_(100287492_?)del
NC_000008.10:g.(?_100146850)_(100533248_?)del
NC_000008.10:g.(?_100147223)_(100155413_?)del
NC_000008.10:g.(?_100155192)_(100287492_?)del
NC_000008.10:g.(?_100160049)_(100160258_?)del
NC_000008.10:g.(?_100160049)_(100168991_?)del
NC_000008.10:g.(?_100168757)_(100205305_?)del
NC_000008.10:g.(?_100182247)_(100403952_?)del
NC_000008.10:g.(?_100182247)_(100589881_?)del
NC_000008.10:g.(?_100182257)_(100221906_?)del
NC_000008.10:g.(?_100182257)_(100287492_?)del
NC_000008.10:g.(?_100182257)_(100479872_?)del
NC_000008.10:g.(?_100205084)_(100205305_?)del
NC_000008.10:g.(?_100205084)_(100454883_?)del
NC_000008.10:g.(?_100205084)_(100589881_?)del
NC_000008.10:g.(?_100205094)_(100287492_?)del
NC_000008.10:g.(?_100205094)_(100733285_?)del
NC_000008.10:g.(?_100286406)_(100494050_?)del
NC_000008.10:g.(?_100286406)_(100515198_?)del
NC_000008.10:g.(?_100286406)_(100520159_?)del
NC_000008.10:g.(?_100286406)_(100523760_?)del
NC_000008.10:g.(?_100286406)_(100533258_?)del
NC_000008.10:g.(?_100286406)_(100874194_?)del
NC_000008.10:g.(?_100286416)_(100454873_?)del
NC_000008.10:g.(?_100286416)_(100568891_?)del
NC_000008.10:g.(?_100286416)_(100673729_?)del
NC_000008.10:g.(?_100286416)_(100821768_?)del
NC_000008.10:g.(?_100396416)_(100396565_?)del
NC_000008.10:g.(?_100396416)_(100443912_?)del
NC_000008.10:g.(?_100396416)_(100479882_?)del
NC_000008.10:g.(?_100396416)_(100515198_?)del
NC_000008.10:g.(?_100396426)_(100403942_?)del
NC_000008.10:g.(?_100396426)_(100454873_?)del
NC_000008.10:g.(?_100396426)_(100523750_?)del
NC_000008.10:g.(?_100396426)_(100589871_?)del
NC_000008.10:g.(?_100403765)_(100403952_?)del
NC_000008.10:g.(?_100443745)_(100443912_?)del
NC_000008.10:g.(?_100443745)_(100589881_?)del
NC_000008.10:g.(?_100443755)_(100568891_?)del
NC_000008.10:g.(?_100454609)_(100589881_?)del
NC_000008.10:g.(?_100454619)_(100533248_?)del
NC_000008.10:g.(?_100454619)_(100673729_?)del
NC_000008.10:g.(?_100479619)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100479882_?)del
NC_000008.10:g.(?_100479622)_(100533258_?)del
NC_000008.10:g.(?_100479622)_(100589881_?)del
NC_000008.10:g.(?_100479632)_(100494040_?)del
NC_000008.10:g.(?_100493807)_(100533258_?)del
NC_000008.10:g.(?_100493807)_(100729621_?)del
NC_000008.10:g.(?_100493817)_(100588022_?)del
NC_000008.10:g.(?_100513905)_(100514096_?)del
NC_000008.10:g.(?_100523312)_(100779218_?)del
NC_000008.10:g.(?_100533107)_(100588032_?)del
NC_000008.10:g.(?_100533107)_(100589881_?)del
NC_000008.10:g.(?_100533107)_(100733295_?)del
NC_000008.10:g.(?_100533117)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100568891_?)del
NC_000008.10:g.(?_100568668)_(100589871_?)del
NC_000008.10:g.(?_100568668)_(100654736_?)del
NC_000008.10:g.(?_100568668)_(100673729_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)del
NC_000008.10:g.(?_100587866)_(100589881_?)dup
NC_000008.10:g.(?_100587866)_(100712180_?)del
NC_000008.10:g.(?_100654019)_(100673739_?)del
NC_000008.10:g.(?_100654019)_(100887894_?)del
NC_000008.10:g.(?_100654029)_(100654736_?)del
NC_000008.10:g.(?_100654029)_(100673729_?)del
NC_000008.10:g.(?_100654029)_(100712170_?)del
NC_000008.10:g.(?_100654029)_(100733285_?)del
NC_000008.10:g.(?_100711733)_(100796724_?)del
NC_000008.10:g.(?_100711743)_(100733285_?)del
NC_000008.10:g.(?_100778992)_(100779208_?)del
NC_000008.10:g.(?_100788983)_(100791279_?)del
NC_000008.10:g.(?_100830669)_(100833720_?)del
NC_000008.10:g.(?_100860984)_(100866504_?)del
NC_000008.10:g.(?_100880497)_(100887894_?)del
NC_000008.10:g.(?_100882993)_(100883945_?)del
NC_000008.10:g.(?_100883666)_(100883935_?)del
NC_000008.10:g.(?_99346108)_(100589843_?)del
NC_000008.10:g.(?_99594279)_(100513908_?)del
NC_000008.10:g.100246250_100460500del
NC_000008.11:g.(?_99013769)_(99209688_?)del
NC_000008.11:g.(?_99096292)_(99193077_?)del
NC_000008.11:g.(?_99096292)_(99577653_?)del
NC_000008.11:g.(?_99096302)_(99136762_?)del
NC_000008.11:g.(?_99096302)_(99556663_?)del
NC_000008.11:g.(?_99102953)_(99170163_?)del
NC_000008.11:g.(?_99111088)_(99170173_?)del
NC_000008.11:g.(?_99115680)_(99193077_?)del
NC_000008.11:g.(?_99121157)_(99193077_?)del
NC_000008.11:g.(?_99121167)_(99721057_?)del
NC_000008.11:g.(?_99134612)_(99136772_?)del
NC_000008.11:g.(?_99135005)_(99143175_?)del
NC_000008.11:g.(?_99135015)_(99143165_?)del
NC_000008.11:g.(?_99170039)_(99170163_?)del
NC_000008.11:g.(?_99209572)_(99391724_?)del
NC_000008.11:g.(?_99274178)_(99577653_?)del
NC_000008.11:g.(?_99274178)_(99721067_?)del
NC_000008.11:g.(?_99384188)_(99511532_?)del
NC_000008.11:g.(?_99384188)_(99721067_?)del
NC_000008.11:g.(?_99391537)_(99521030_?)del
NC_000008.11:g.(?_99391557)_(99556653_?)del
NC_000008.11:g.(?_99431517)_(99721067_?)del
NC_000008.11:g.(?_99467404)_(99521020_?)del
NC_000008.11:g.(?_99481579)_(99721067_?)del
NC_000008.11:g.(?_99501677)_(99502960_?)del
NC_000008.11:g.(?_99520889)_(99521020_?)del
NC_000008.11:g.(?_99520899)_(99584089_?)del
NC_000008.11:g.(?_99556430)_(99577653_?)del
NC_000008.11:g.(?_99556430)_(99642518_?)del
NC_000008.11:g.(?_99661334)_(99661511_?)del
NC_000008.11:g.(?_99661344)_(99784486_?)del
NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup
NC_000012.12:g.116022564_116022565delinsAT rs1555250044
NC_000015.10:g.75410285_75410288del rs879255619
NC_000016.10:g.(?_3727698)_(3793646_?)del
NC_000016.10:g.(?_3727698)_(3810799_?)del
NC_000016.10:g.(?_3727698)_(4802591_?)del
NC_000016.10:g.(?_3744874)_(4337544_?)del
NC_000016.10:g.(?_3757268)_(3757396_?)del
NC_000016.10:g.(?_3780712)_(3781326_?)del
NC_000016.10:g.(?_3791961)_(3792114_?)del
NC_000016.10:g.(?_3810583)_(3879936_?)del
NC_000016.10:g.(?_3879812)_(3879936_?)del
NC_000016.10:g.(?_89268458)_(89288690_?)del
NC_000016.10:g.(?_89268458)_(89317039_?)del
NC_000016.10:g.3731937_3731941del
NC_000016.10:g.89490211_89491991del
NC_000016.9:g.(?_3293141)_(3929917_?)del
NC_000016.9:g.(?_3711968)_(3781958_?)del
NC_000016.9:g.(?_3721703)_(3790570_?)del
NC_000016.9:g.(?_3781438)_(3788947_?)del
NC_000016.9:g.(?_3786017)_(3860800_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)del
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3817701)_(3860800_?)del
NC_000016.9:g.(?_3823732)_(3824714_?)del
NC_000016.9:g.(?_3823732)_(3831327_?)del
NC_000016.9:g.(?_3827594)_(3832947_?)del
NC_000016.9:g.(?_3841962)_(3843647_?)del
NC_000016.9:g.(?_3900278)_(3901030_?)del
NC_000016.9:g.(?_3900278)_(3929917_?)del
NC_000016.9:g.(?_3929894)_(3931297_?)del
NC_000016.9:g.(?_87921735)_(89484776_?)del
NC_000016.9:g.(?_89334886)_(89341619_?)del
NC_000016.9:g.(?_89334886)_(89371772_?)del
NC_000016.9:g.68345747_68361056del
NC_000016.9:g.88365786_89584412del1218627
NC_000016.9:g.89306725_89339913del33189
NC_000019.10:g.41983952_42247520del
NC_000021.7:g.37796500_37849000del
NC_000021.8:g.(?_38792657)_(38884854_?)del
NC_000021.8:g.(?_38844966)_(38845202_?)del
NC_000021.8:g.(?_38844966)_(38884854_?)del
NC_000021.8:g.(?_38850463)_(38850622_?)del
NC_000021.8:g.(?_38859534)_(38868543_?)del
NC_000021.9:g.37347863_37423682del
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.10:g.(?_41074407)_(41489122_?)del
NC_000022.10:g.(?_41553153)_(41554524_?)del
NC_000022.10:g.(?_41564433)_(41566595_?)del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NC_000023.10:g.(119681095_119691778)_(119694481_119708405)del
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NC_000023.10:g.(?_117629935)_(119761021_?)del
NC_000023.10:g.(?_128674417)_(128975921_?)del
NC_000023.10:g.(?_128674417)_(129299630_?)del
NC_000023.10:g.(?_128946967)_(128948896_?)del
NC_000023.10:g.(?_133511648)_(133559360_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153577217)_(153583460_?)del
NC_000023.10:g.(?_153592874)_(153593874_?)del
NC_000023.10:g.(?_153595748)_(153596947_?)del
NC_000023.10:g.(?_153599231)_(153609567_?)del
NC_000023.10:g.(?_17393881)_(20284750_?)del
NC_000023.10:g.(?_20173516)_(20174387_?)del
NC_000023.10:g.(?_20204394)_(20206108_?)del
NC_000023.10:g.(?_46466387)_(47489243_?)del
NC_000023.10:g.(?_62857908)_(62863948_?)del
NC_000023.10:g.(?_62875354)_(62875637_?)del
NC_000023.10:g.(?_70337406)_(70363304_?)del
NC_000023.10:g.(?_76759356)_(77042755_?)del
NC_000023.10:g.(?_76763809)_(77041507_?)del
NC_000023.10:g.(?_76763829)_(76776414_?)del
NC_000023.10:g.(?_76907584)_(76912163_?)del
NC_000023.10:g.(?_76907608)_(76974315_?)del
NC_000023.10:g.(?_76937002)_(76940508_?)del
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_76972588)_(77302067_?)del
NC_000023.10:g.(?_77041448)_(77041487_?)del
NC_000023.10:g.(?_99551255)_(99905882_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.(?_99551275)_(100099087_?)del
NC_000023.10:g.(?_99551275)_(99605722_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)del
NC_000023.10:g.(?_99596881)_(99663595_?)del
NC_000023.10:g.(?_99596891)_(99597083_?)del
NC_000023.10:g.(?_99605624)_(99605722_?)del
NC_000023.10:g.(?_99654182)_(99661939_?)del
NC_000023.10:g.(?_99657775)_(99662816_?)del
NC_000023.10:g.(?_99661873)_(99700255_?)del
NC_000023.10:g.14693216_14836199del
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(41853228_41922929)(41923555_?)del
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
NC_000023.11:g.(74745698_74924882)_(74925453_?)dup
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NC_000023.11:g.(?_123184278)_(123490915_?)del
NC_000023.11:g.153670446_154329698dup
NC_000023.11:g.155264167_155265545del
NC_000023.11:g.68119248_68212212dup
NG_007098.2:g.(809539_810185)_(813218_815566)del
NG_007098.2:g.(94856_102832)_(161899_184610)del
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
NG_008960.1:g.224486-?_245539+?del
NG_008960.1:g.337629_355297del
NG_009873.1:g.(?_5000)_(160068_?)del
NG_011641.2:g.(108110_108560)_(109645_112963)del
NG_032162.2:g.118997_171770del
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.134-4884_242+41del
NM_000489.6(ATRX):c.158del (p.Asn53fs) rs2148685852
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1727C>G (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) rs1557140492
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
NM_000489.6(ATRX):c.2678dup (p.Thr894fs) rs2148591494
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
NM_000489.6(ATRX):c.371-1201G>A
NM_000489.6(ATRX):c.399_400dup (p.Leu134fs)
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) rs2070037318
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) rs2070034528
NM_000489.6(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.6(ATRX):c.4558-3T>G rs1602996115
NM_000489.6(ATRX):c.477del (p.Lys159fs) rs1603240572
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.6(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.6(ATRX):c.5273-10T>A rs2148261114
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.6(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp) rs1057517707
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) rs1557041077
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.6(ATRX):c.7205del (p.Ile2402fs) rs1569513017
NM_000489.6(ATRX):c.7366dup (p.Met2456fs)
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu) rs2148637532
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_001003694.2(BRPF1):c.104dup (p.Tyr35Ter) rs1057519517
NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs) rs886041090
NM_001003694.2(BRPF1):c.1108C>T (p.Pro370Ser) rs1057519509
NM_001003694.2(BRPF1):c.1165T>C (p.Cys389Arg) rs1057519515
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001003694.2(BRPF1):c.1217dup (p.Tyr406Ter)
NM_001003694.2(BRPF1):c.1313del (p.Val438fs) rs2076997522
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) rs1057519510
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter) rs2125501418
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs) rs2125504267
NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg) rs2125507908
NM_001003694.2(BRPF1):c.2311+1G>A rs2077062359
NM_001003694.2(BRPF1):c.2345_2346del (p.Asn782fs)
NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs)
NM_001003694.2(BRPF1):c.2545_2566dup (p.Ala856delinsGlyTer)
NM_001003694.2(BRPF1):c.2798del (p.Pro933fs) rs2125511510
NM_001003694.2(BRPF1):c.2844dup (p.Lys949fs)
NM_001003694.2(BRPF1):c.2982C>G (p.Tyr994Ter) rs1057519514
NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp) rs2125514693
NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter) rs1057519513
NM_001003694.2(BRPF1):c.362_363del (p.Glu121fs) rs1057519511
NM_001003694.2(BRPF1):c.396del (p.Asn132fs)
NM_001003694.2(BRPF1):c.491dup (p.His164fs)
NM_001003694.2(BRPF1):c.556C>T (p.Gln186Ter) rs1367505804
NM_001003694.2(BRPF1):c.567del (p.Asp190fs) rs1057519516
NM_001003694.2(BRPF1):c.598del (p.Arg200fs)
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter) rs2125500187
NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter) rs1553695017
NM_001003694.2(BRPF1):c.940C>T (p.Gln314Ter)
NM_001003694.2(BRPF1):c.945G>A (p.Trp315Ter)
NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter) rs2125500524
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter) rs2080114203
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.1423C>T (p.Gln475Ter)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) rs2080113065
NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) rs2080111520
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter) rs2147440717
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2506del (p.His836fs)
NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) rs2080105696
NM_001008537.3(NEXMIF):c.2692C>T (p.Gln898Ter)
NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter) rs2147440006
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter) rs2080104580
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter) rs2080102486
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter) rs2080118279
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter) rs2080101717
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3461dup (p.Cys1155fs)
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs) rs2147439375
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter) rs1181632862
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs) rs2147441408
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter) rs2080115999
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-8A>G rs771399346
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001015877.2(PHF6):c.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
NM_001015877.2(PHF6):c.415G>T (p.Glu139Ter) rs770811341
NM_001015877.2(PHF6):c.417A>T (p.Glu139Asp)
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.2(PHF6):c.585+1G>A rs2077460481
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter) rs1556019107
NM_001015877.2(PHF6):c.829del (p.Arg277fs) rs2077467552
NM_001015877.2(PHF6):c.890G>T (p.Cys297Phe)
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001031710.3(KLHL7):c.249del (p.Phe83fs) rs1583657698
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) rs2147468376
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) rs121917899
NM_001032382.2(PQBP1):c.292+1G>A rs2147472456
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_001032382.2(PQBP1):c.376_377del (p.Arg126fs)
NM_001032382.2(PQBP1):c.424del (p.Arg142fs)
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs) rs606231193
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) rs606231193
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs) rs606231193
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) rs606231197
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) rs2147475642
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) rs1602332039
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs) rs2147080697
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs) rs2147080766
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.2746C>T (p.Arg916Ter)
NM_001039591.3(USP9X):c.3022G>T (p.Gly1008Ter)
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
NM_001039591.3(USP9X):c.323-1G>A
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
NM_001039591.3(USP9X):c.44del (p.Asn15fs) rs1555917927
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) rs1555930128
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter) rs2062209732
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) rs2063213305
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) rs2063238551
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
NM_001039591.3(USP9X):c.6679_6685delinsTCCTG (p.Lys2227_Tyr2229delinsSerTer) rs2147262405
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs) rs2147266578
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)
NM_001039591.3(USP9X):c.7206C>A (p.Tyr2402Ter)
NM_001042424.3(NSD2):c.1363_1364dup (p.Asp455fs) rs2108805708
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter) rs121434616
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs) rs1556206910
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys) rs121434615
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs) rs1057519396
NM_001079872.2(CUL4B):c.1852+1G>T rs797044862
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)
NM_001079872.2(CUL4B):c.516del (p.Lys172fs)
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter) rs1556220623
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met) rs1379343211
NM_001079872.2(CUL4B):c.847-2A>G rs786200913
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter) rs925484505
NM_001080517.3(SETD5):c.2268del (p.Arg757fs) rs2042271732
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) rs2067763458
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=) rs1557179325
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) rs2067761804
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) rs2148118072
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs) rs1603362871
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) rs2067760741
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
NM_001110556.2(FLNA):c.1414dup (p.Val472fs)
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
NM_001110556.2(FLNA):c.1653del (p.Ile551fs)
NM_001110556.2(FLNA):c.1699G>T (p.Glu567Ter)
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) rs1447594194
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) rs2148116288
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) rs2067741257
NM_001110556.2(FLNA):c.2022+1G>A
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs) rs863223630
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) rs2148115776
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) rs2067723474
NM_001110556.2(FLNA):c.2371del (p.Tyr791fs)
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val) rs28935169
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
NM_001110556.2(FLNA):c.2626A>T (p.Lys876Ter)
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) rs2148114051
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.2947dup (p.Val983fs) rs2148113628
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) rs2148113604
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) rs1557178045
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) rs2148121859
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) rs2067693064
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter) rs1557177663
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3827_3828del (p.Thr1276fs)
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) rs2148111417
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) rs2148111202
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter) rs186214592
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) rs781789823
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.506del (p.Lys169fs)
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) rs1557176615
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5245C>T (p.Gln1749Ter)
NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter)
NM_001110556.2(FLNA):c.5557+2T>G
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) rs1359141531
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) rs2148119354
NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.6173dup (p.His2058fs)
NM_001110556.2(FLNA):c.6204dup (p.Ile2069fs)
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001110556.2(FLNA):c.6227-1G>A
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) rs2148104651
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) rs2148104615
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
NM_001110556.2(FLNA):c.6512dup (p.Gln2172fs)
NM_001110556.2(FLNA):c.656del (p.Ser219fs) rs2148119182
NM_001110556.2(FLNA):c.6581del (p.Glu2194fs)
NM_001110556.2(FLNA):c.6586del (p.His2196fs) rs2067626336
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) rs786205178
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) rs2148103917
NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs)
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
NM_001110556.2(FLNA):c.6830dup (p.Ser2279fs)
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) rs2148103458
NM_001110556.2(FLNA):c.6923C>A (p.Ser2308Ter)
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) rs2148103004
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) rs2148101228
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
NM_001110556.2(FLNA):c.7400dup (p.Asp2467fs)
NM_001110556.2(FLNA):c.7502del (p.Tyr2501fs)
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) rs28935470
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) rs2067602034
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
NM_001110556.2(FLNA):c.7676del (p.Lys2559fs)
NM_001110556.2(FLNA):c.7756+2T>A
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?) rs863223636
NM_001110556.2(FLNA):c.812del (p.Pro271fs) rs2148118964
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) rs2148118942
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1147dup (p.His383fs) rs1057519404
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter) rs63094662
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile) rs2148770984
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.618dup (p.Gly207fs) rs2148663602
NM_001110792.2(MECP2):c.642del (p.Thr215fs) rs2148663473
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del) rs2148661952
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer) rs1560313832
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127178.3(PIGG):c.1173_1174del (p.Tyr392fs) rs2108940028
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter) rs780498908
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)
NM_001127178.3(PIGG):c.1328del (p.Leu443fs)
NM_001127178.3(PIGG):c.1489dup (p.Ser497fs) rs1577094794
NM_001127178.3(PIGG):c.1544_1545del (p.Ala515fs) rs2108949204
NM_001127178.3(PIGG):c.1562_1563del (p.Val521fs)
NM_001127178.3(PIGG):c.1603dup (p.Thr535fs)
NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.1733_1734del (p.Trp578fs) rs2108966214
NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)
NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)
NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)
NM_001127178.3(PIGG):c.1923dup (p.Thr642fs) rs2108968160
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)
NM_001127178.3(PIGG):c.2088G>C (p.Glu696Asp) rs1203666288
NM_001127178.3(PIGG):c.2129_2130del (p.Val710fs)
NM_001127178.3(PIGG):c.2209del (p.Ala737fs) rs2108995799
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.2261+1G>C rs869320773
NM_001127178.3(PIGG):c.2288_2289del (p.Tyr763fs) rs1728769445
NM_001127178.3(PIGG):c.2294_2295del (p.Phe765fs)
NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)
NM_001127178.3(PIGG):c.2332del (p.Lys779fs)
NM_001127178.3(PIGG):c.2334del (p.Lys779fs)
NM_001127178.3(PIGG):c.2444del (p.Pro815fs)
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.2760del (p.Phe921fs)
NM_001127178.3(PIGG):c.2872G>T (p.Glu958Ter) rs775379047
NM_001127178.3(PIGG):c.309_310del (p.His103fs) rs1553875180
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.366_381del (p.Leu122fs) rs1719440437
NM_001127178.3(PIGG):c.570+1G>A rs1719513784
NM_001127178.3(PIGG):c.571del rs1553880098
NM_001127178.3(PIGG):c.623G>A (p.Trp208Ter) rs1720118439
NM_001127178.3(PIGG):c.640C>T (p.His214Tyr) rs2108801356
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)
NM_001127178.3(PIGG):c.768_769del (p.Glu256fs)
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.801del (p.Asp268fs)
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)
NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter) rs2141487525
NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)
NM_001145358.2(SIN3A):c.1229del (p.Lys410fs) rs2073599549
NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter) rs1555444885
NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)
NM_001145358.2(SIN3A):c.1759del (p.Ser587fs) rs879255620
NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) rs1444395453
NM_001145358.2(SIN3A):c.2192_2198del (p.His731fs)
NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs) rs2073271481
NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs) rs886037847
NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs) rs1135401768
NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter) rs879255621
NM_001145358.2(SIN3A):c.3384dup
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter) rs2141540759
NM_001145358.2(SIN3A):c.803dup (p.Leu269fs) rs879255618
NM_001145358.2(SIN3A):c.848dup (p.His283fs) rs1567368243
NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)
NM_001172509.1(SATB2):c.170_346dup rs2105928778
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs) rs1574532220
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter) rs1688726794
NM_001172509.2(SATB2):c.1135del (p.Gln379fs)
NM_001172509.2(SATB2):c.1153del (p.Val385fs) rs2105822848
NM_001172509.2(SATB2):c.115dup (p.Ser39fs)
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu) rs1247886882
NM_001172509.2(SATB2):c.1174-2A>G
NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) rs1688108235
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
NM_001172509.2(SATB2):c.1225dup (p.Gln409fs)
NM_001172509.2(SATB2):c.1249del (p.Ala417fs)
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) rs1688101934
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.138del (p.Arg46fs)
NM_001172509.2(SATB2):c.1423_1424insCTTAAT (p.Lys475delinsThrTer)
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1504del (p.Gln502fs) rs1687958384
NM_001172509.2(SATB2):c.150del (p.Val51fs) rs2105957137
NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser) rs1553544187
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) rs1553544158
NM_001172509.2(SATB2):c.1600del (p.Leu534fs)
NM_001172509.2(SATB2):c.1610del (p.Asn537fs) rs1574492395
NM_001172509.2(SATB2):c.1627del (p.Arg543fs) rs1135401803
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.1705dup (p.Gln569fs) rs2105768966
NM_001172509.2(SATB2):c.1763dup (p.Pro589fs)
NM_001172509.2(SATB2):c.1826del (p.Asp609fs) rs1574459072
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001172509.2(SATB2):c.1976TCA[1] (p.Ile660del)
NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs) rs1692186575
NM_001172509.2(SATB2):c.2104del (p.Asp702fs)
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter) rs1357010510
NM_001172509.2(SATB2):c.235_239delinsC (p.Glu79fs)
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs) rs2105928888
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.344_346+1dup
NM_001172509.2(SATB2):c.346+1G>A rs2105928782
NM_001172509.2(SATB2):c.346+2T>A rs1559052017
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
NM_001172509.2(SATB2):c.430C>T (p.Gln144Ter)
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001172509.2(SATB2):c.54_55insCTCC (p.Gly19fs)
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs) rs1574566833
NM_001172509.2(SATB2):c.554del (p.Glu185fs) rs2105865877
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) rs1391758713
NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs) rs2105865785
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.622dup (p.Ser208fs)
NM_001172509.2(SATB2):c.701-2A>C
NM_001172509.2(SATB2):c.701-2A>G
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.721_722del (p.Asn241fs) rs1688740919
NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs) rs1553551705
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)
NM_001172509.2(SATB2):c.988C>T (p.Gln330Ter)
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly) rs2147539926
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1069G>T (p.Glu357Ter)
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) rs1928407939
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) rs1928407149
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) rs1928406047
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs) rs1928405402
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
NM_001184880.2(PCDH19):c.1170del (p.Asn391fs)
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter) rs2147539395
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter) rs2147539378
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter) rs2147539361
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) rs796052813
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met) rs764650219
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) rs1928398128
NM_001184880.2(PCDH19):c.1303_1304del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1305del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp) rs2147539047
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) rs1569314809
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1353del (p.His452fs) rs2147539018
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs) rs2147538939
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter) rs2147538918
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer) rs2147538910
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs) rs1928388987
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs) rs2147538807
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) rs2147538796
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs) rs2147538759
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) rs1928383528
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs) rs2147538605
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs) rs1928375176
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) rs1928374520
NM_001184880.2(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs) rs2147538169
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu) rs796052819
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser) rs1928370474
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) rs1928369132
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs) rs2147537854
NM_001184880.2(PCDH19):c.1785C>A (p.Tyr595Ter)
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1793dup (p.Glu599fs)
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.1804del (p.Arg602fs)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1867G>T (p.Glu623Ter)
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) rs1928359639
NM_001184880.2(PCDH19):c.1914T>G (p.Tyr638Ter)
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) rs1928355133
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs) rs2147537315
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) rs1928350631
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter) rs1928349391
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001184880.2(PCDH19):c.2147+1G>T rs1555984947
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter) rs2147534335
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
NM_001184880.2(PCDH19):c.2295del (p.Glu766fs)
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter) rs1471944316
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter) rs2147533439
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs) rs2147533347
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
NM_001184880.2(PCDH19):c.244dup (p.Val82fs) rs1928471120
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs) rs1928224021
NM_001184880.2(PCDH19):c.2488_2489del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2490del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs) rs2147533148
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) rs1928217378
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs) rs2147533042
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) rs1928216298
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) rs2147532974
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs) rs2147492697
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2640dup (p.Asn881fs)
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2662dup (p.His888fs) rs2147492627
NM_001184880.2(PCDH19):c.2675+1G>C
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) rs1926264984
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter) rs2147485040
NM_001184880.2(PCDH19):c.2848+1G>A
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs) rs2147542264
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs) rs2147542217
NM_001184880.2(PCDH19):c.3044dup (p.Ala1016fs)
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala) rs1928463633
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) rs1928462092
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile) rs2147543046
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter) rs759398718
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) rs1928459143
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs) rs1928457666
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) rs1928457396
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.506del (p.Thr169fs) rs2147541704
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter) rs1928454112
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) rs2147542870
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) rs1928452385
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs) rs2147542837
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
NM_001184880.2(PCDH19):c.564del (p.Glu189fs) rs1928449770
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter) rs2147541401
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) rs1928448324
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly) rs2147541373
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) rs1928445406
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu) rs2147541121
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) rs1928441222
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter) rs1928440191
NM_001184880.2(PCDH19):c.687del (p.Asp230fs) rs1928439511
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn) rs1928439241
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr) rs1555985475
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.714del (p.Phe238fs) rs2147540836
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly) rs2147540751
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs) rs2147540522
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) rs1928426655
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) rs1928424443
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs) rs2147540431
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs) rs2147540245
NM_001184880.2(PCDH19):c.883del (p.Ser295fs) rs2147540261
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs) rs2147542719
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter) rs2147540086
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr) rs2147540049
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) rs1928479952
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
NM_001190274.2(FBXO11):c.1543_1557del (p.Phe515_Lys519del) rs2104738808
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1646GAG[1] (p.Gly550del)
NM_001190274.2(FBXO11):c.1696del (p.Ile566fs) rs2104731734
NM_001190274.2(FBXO11):c.1797+1G>A rs2104716005
NM_001190274.2(FBXO11):c.1798-1G>A rs2104703623
NM_001190274.2(FBXO11):c.2138G>A (p.Trp713Ter)
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001190274.2(FBXO11):c.2147_2150del (p.Thr716fs)
NM_001190274.2(FBXO11):c.2338+1G>A rs2104632978
NM_001190274.2(FBXO11):c.2392AAC[1] (p.Asn799del) rs2104626104
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs) rs2104621655
NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs) rs2104613365
NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del) rs2104613345
NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs) rs2104613193
NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs) rs1230294673
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) rs1572753822
NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs) rs1670357007
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2732_2738del (p.Thr911fs)
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs) rs2104610531
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs) rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser) rs1553342109
NM_001190274.2(FBXO11):c.442+1dup rs1553342101
NM_001190274.2(FBXO11):c.500TCT[1] (p.Phe168del) rs2104856413
NM_001190274.2(FBXO11):c.552del (p.Lys184fs) rs2104856110
NM_001190274.2(FBXO11):c.588-2A>G rs2104833077
NM_001190274.2(FBXO11):c.668del (p.Pro223fs) rs2104832291
NM_001190274.2(FBXO11):c.802-1G>A rs1672424005
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001256182:c.7545delG
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001272071.2(AP1S2):c.1-2A>G rs1934209113
NM_001272071.2(AP1S2):c.1-3C>A rs1060499672
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter) rs104894739
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001272071.2(AP1S2):c.180-5_180-2del rs587776738
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter) rs137852213
NM_001272071.2(AP1S2):c.281del (p.Phe94fs) rs1555904182
NM_001272071.2(AP1S2):c.288+1G>A
NM_001272071.2(AP1S2):c.288+5G>A rs587776739
NM_001272071.2(AP1S2):c.319del (p.Glu107fs)
NM_001272071.2(AP1S2):c.367C>T (p.Gln123Ter)
NM_001272071.2(AP1S2):c.426+1G>T rs587777542
NM_001282531.3(ADNP):c.-5-1G>C rs1064796656
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) rs1981068436
NM_001282531.3(ADNP):c.1191dup (p.Asn398Ter)
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) rs587777524
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) rs1555810308
NM_001282531.3(ADNP):c.177_178dup (p.Asp60fs)
NM_001282531.3(ADNP):c.190dup (p.Thr64fs) rs886041741
NM_001282531.3(ADNP):c.1936_1937del (p.Arg646fs)
NM_001282531.3(ADNP):c.2155del (p.Tyr719fs) rs2122746625
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) rs587777526
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer) rs1600930118
NM_001282531.3(ADNP):c.2167del (p.Glu723fs) rs2122746230
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2189del (p.Arg730fs)
NM_001282531.3(ADNP):c.2194_2197del (p.Leu732fs) rs1555809984
NM_001282531.3(ADNP):c.2212dup (p.Ser738fs)
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) rs779340209
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter)
NM_001282531.3(ADNP):c.2301del (p.Ser769fs)
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs) rs1057518978
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) rs2122743549
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs) rs2122743279
NM_001282531.3(ADNP):c.2450dup (p.Tyr818fs)
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) rs2122743080
NM_001282531.3(ADNP):c.2483dup (p.Met828fs)
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2495_2499del (p.Asn832fs) rs2122742586
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2808del (p.Lys935_Tyr936insTer) rs587777525
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) rs1186714720
NM_001282531.3(ADNP):c.2865_2868del (p.Ser955fs) rs1980777288
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) rs1981147033
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) rs1135401791
NM_001282531.3(ADNP):c.539_542del (p.Val180fs) rs1057518345
NM_001282531.3(ADNP):c.642_651del (p.Asn214fs) rs1981125064
NM_001282531.3(ADNP):c.655_656del (p.Glu218_Ser219insTer) rs2122761731
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter)
NM_001282531.3(ADNP):c.819del (p.Lys274fs) rs886041498
NM_001282531.3(ADNP):c.898dup (p.Ser300fs) rs2122759209
NM_001282531.3(ADNP):c.940_941del (p.Leu314fs) rs1981083173
NM_001282531.3(ADNP):c.95_96insT (p.Lys32fs) rs2122840340
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser) rs1569271378
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg) rs1569271892
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu) rs1569350993
NM_001330360.2(POLA1):c.463-2A>T rs2148341850
NM_001330360.2(POLA1):c.525+1G>A rs1569277899
NM_001347721.2(DYRK1A):c.1007G>A (p.Trp336Ter)
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg) rs2053152079
NM_001347721.2(DYRK1A):c.1025del (p.Leu342fs) rs1064794894
NM_001347721.2(DYRK1A):c.1069G>T (p.Glu357Ter) rs1555985742
NM_001347721.2(DYRK1A):c.1071+1G>A rs587776930
NM_001347721.2(DYRK1A):c.1072-2A>C
NM_001347721.2(DYRK1A):c.1074_1077del (p.Asp359fs) rs797044522
NM_001347721.2(DYRK1A):c.1114_1133del (p.Pro372fs)
NM_001347721.2(DYRK1A):c.1132C>T (p.Gln378Ter) rs1555987107
NM_001347721.2(DYRK1A):c.1135_1141del (p.Ala379fs)
NM_001347721.2(DYRK1A):c.1135dup (p.Ala379fs) rs797045042
NM_001347721.2(DYRK1A):c.1158dup (p.Glu387Ter) rs2148627691
NM_001347721.2(DYRK1A):c.1190_1193del (p.Lys397fs) rs2148627802
NM_001347721.2(DYRK1A):c.1190dup (p.Lys398fs)
NM_001347721.2(DYRK1A):c.1191_1192insTT (p.Lys398fs)
NM_001347721.2(DYRK1A):c.1213-2A>G rs1601315812
NM_001347721.2(DYRK1A):c.1213-3C>G
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
NM_001347721.2(DYRK1A):c.1259_1260dup (p.Glu421fs)
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs) rs797045539
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter) rs724159953
NM_001347721.2(DYRK1A):c.1289del (p.Ala430fs) rs2053564046
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
NM_001347721.2(DYRK1A):c.1354_1357del (p.Asp452fs) rs2053566124
NM_001347721.2(DYRK1A):c.1357_1358insTC (p.Tyr453fs) rs2053566582
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter) rs797044520
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter) rs1555990955
NM_001347721.2(DYRK1A):c.143_144del (p.Ile48fs) rs587776929
NM_001347721.2(DYRK1A):c.1464del (p.Ala489fs) rs1057519628
NM_001347721.2(DYRK1A):c.1476del (p.Gln492fs)
NM_001347721.2(DYRK1A):c.1526C>G (p.Ser509Ter)
NM_001347721.2(DYRK1A):c.1583del (p.His528fs) rs1601319086
NM_001347721.2(DYRK1A):c.1587_1588dup (p.Gly530fs)
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter) rs869312708
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs) rs1601319352
NM_001347721.2(DYRK1A):c.1699C>T (p.Gln567Ter) rs1555994573
NM_001347721.2(DYRK1A):c.1753C>T (p.Gln585Ter)
NM_001347721.2(DYRK1A):c.1785del (p.Asn595fs)
NM_001347721.2(DYRK1A):c.187C>T (p.Gln63Ter) rs373178770
NM_001347721.2(DYRK1A):c.1932_1938del (p.His644fs)
NM_001347721.2(DYRK1A):c.1943_1960delinsTC (p.Ser648fs)
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
NM_001347721.2(DYRK1A):c.2014del (p.Gln672fs)
NM_001347721.2(DYRK1A):c.201_204del (p.Asn68fs) rs1569355102
NM_001347721.2(DYRK1A):c.205C>T (p.Gln69Ter) rs1555977171
NM_001347721.2(DYRK1A):c.208-8dup
NM_001347721.2(DYRK1A):c.210dup (p.Arg71fs) rs2148571400
NM_001347721.2(DYRK1A):c.250_251del (p.Leu84fs) rs2148571595
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs) rs1064793546
NM_001347721.2(DYRK1A):c.267_268dup (p.Asp90fs) rs2148571670
NM_001347721.2(DYRK1A):c.270_274del (p.Leu91fs) rs1057519402
NM_001347721.2(DYRK1A):c.284dup (p.Tyr95Ter) rs1555979158
NM_001347721.2(DYRK1A):c.285C>A (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.285C>G (p.Tyr95Ter) rs797044519
NM_001347721.2(DYRK1A):c.286A>T (p.Lys96Ter)
NM_001347721.2(DYRK1A):c.293_294dup (p.Asn99fs) rs2148571757
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter) rs1057518204
NM_001347721.2(DYRK1A):c.331C>T (p.Gln111Ter) rs1555980223
NM_001347721.2(DYRK1A):c.334C>T (p.Gln112Ter) rs1555980234
NM_001347721.2(DYRK1A):c.367G>T (p.Glu123Ter)
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs) rs797044523
NM_001347721.2(DYRK1A):c.433_439del (p.Lys145fs) rs2148582438
NM_001347721.2(DYRK1A):c.434del (p.Lys145fs) rs797044521
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter) rs1057516030
NM_001347721.2(DYRK1A):c.450C>G (p.Tyr150Ter) rs1049773
NM_001347721.2(DYRK1A):c.484G>A (p.Gly162Arg) rs1555980467
NM_001347721.2(DYRK1A):c.487C>T (p.Gln163Ter)
NM_001347721.2(DYRK1A):c.489+2T>C rs2052613493
NM_001347721.2(DYRK1A):c.490-3T>G
NM_001347721.2(DYRK1A):c.507dup (p.Arg170fs) rs1569370887
NM_001347721.2(DYRK1A):c.542_545del (p.Ile181fs) rs1555982601
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs) rs1064796367
NM_001347721.2(DYRK1A):c.550_551del (p.Lys184fs)
NM_001347721.2(DYRK1A):c.584del (p.Val195fs)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001347721.2(DYRK1A):c.618_619dup (p.Glu207fs)
NM_001347721.2(DYRK1A):c.625A>T (p.Lys209Ter)
NM_001347721.2(DYRK1A):c.630C>A (p.Tyr210Ter) rs746177928
NM_001347721.2(DYRK1A):c.637+2T>C rs1569371303
NM_001347721.2(DYRK1A):c.637+2dup rs2148601107
NM_001347721.2(DYRK1A):c.638-1G>A rs2148612254
NM_001347721.2(DYRK1A):c.638-9_638-5del
NM_001347721.2(DYRK1A):c.640dup (p.His214fs)
NM_001347721.2(DYRK1A):c.657del (p.Phe219fs)
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs) rs1555984102
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter) rs780441716
NM_001347721.2(DYRK1A):c.675_676del (p.Cys226fs) rs1601267617
NM_001347721.2(DYRK1A):c.676dup (p.Cys226fs)
NM_001347721.2(DYRK1A):c.683_695delinsA (p.Val228_Leu232delinsGlu)
NM_001347721.2(DYRK1A):c.687del (p.Phe229fs) rs2053036372
NM_001347721.2(DYRK1A):c.701dup (p.Tyr234Ter)
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter) rs724159948
NM_001347721.2(DYRK1A):c.748_749del (p.Leu250fs) rs2148612654
NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter) rs886041291
NM_001347721.2(DYRK1A):c.763A>T (p.Lys255Ter) rs1555984237
NM_001347721.2(DYRK1A):c.772C>T (p.Gln258Ter) rs1555984245
NM_001347721.2(DYRK1A):c.822dup (p.Ile275fs)
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg) rs2148612918
NM_001347721.2(DYRK1A):c.833A>G (p.Asp278Gly) rs1555984343
NM_001347721.2(DYRK1A):c.833A>T (p.Asp278Val) rs1555984343
NM_001347721.2(DYRK1A):c.840dup (p.Pro281fs) rs2148612955
NM_001347721.2(DYRK1A):c.848del (p.Asn283fs)
NM_001347721.2(DYRK1A):c.848dup (p.Asn283fs)
NM_001347721.2(DYRK1A):c.905C>T (p.Ser302Phe) rs1039571136
NM_001347721.2(DYRK1A):c.910C>T (p.Gln304Ter) rs1555984433
NM_001347721.2(DYRK1A):c.924+1G>C rs2148613196
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001347721.2(DYRK1A):c.925-11A>G rs2148619358
NM_001347721.2(DYRK1A):c.930C>A (p.Tyr310Ter)
NM_001347721.2(DYRK1A):c.930C>G (p.Tyr310Ter)
NM_001347721.2(DYRK1A):c.931C>T (p.Gln311Ter) rs1555985524
NM_001347721.2(DYRK1A):c.940C>T (p.Gln314Ter) rs1555985532
NM_001347721.2(DYRK1A):c.980_981insCCCA (p.Met327fs) rs2053150009
NM_001347721.2(DYRK1A):c.985dup (p.Tyr329fs)
NM_001347721.2(DYRK1A):c.986dup (p.Tyr329Ter)
NM_001347721.2(DYRK1A):c.987T>G (p.Tyr329Ter) rs886041658
NM_001349338.3(FOXP1):c.1146+1G>A rs1559650552
NM_001349338.3(FOXP1):c.1147-1_1161dup
NM_001349338.3(FOXP1):c.1172_1175del (p.Leu391fs) rs2037949810
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001349338.3(FOXP1):c.1241del (p.Leu414fs)
NM_001349338.3(FOXP1):c.1248dup (p.Val417fs) rs2037930387
NM_001349338.3(FOXP1):c.1287_1291dup (p.Thr431fs) rs1575806352
NM_001349338.3(FOXP1):c.1291_1292del (p.Thr431fs) rs1559620376
NM_001349338.3(FOXP1):c.1317C>G (p.Tyr439Ter) rs794727155
NM_001349338.3(FOXP1):c.1321_1324dup (p.Lys442fs)
NM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter) rs1064793944
NM_001349338.3(FOXP1):c.1333_1335delinsAA (p.Val445fs)
NM_001349338.3(FOXP1):c.1349-5_1350del rs1135401796
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly) rs869025202
NM_001349338.3(FOXP1):c.1394G>C (p.Arg465Thr) rs1553668196
NM_001349338.3(FOXP1):c.1409A>T (p.Tyr470Phe) rs769448730
NM_001349338.3(FOXP1):c.1420_1423del (p.Ile474fs) rs2037850716
NM_001349338.3(FOXP1):c.1420_1427del (p.Ile474fs) rs2037850257
NM_001349338.3(FOXP1):c.1426_1428+1del rs1575803923
NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter) rs775136381
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter) rs797045584
NM_001349338.3(FOXP1):c.1530+1G>T
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1553G>A (p.Ser518Asn) rs2107200789
NM_001349338.3(FOXP1):c.1569_1570insA (p.Val524fs)
NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter) rs112795301
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_001349338.3(FOXP1):c.1590del (p.Ala532fs)
NM_001349338.3(FOXP1):c.1600T>C (p.Trp534Arg) rs587777855
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_001349338.3(FOXP1):c.1653-1G>A rs1575741313
NM_001349338.3(FOXP1):c.1653-2A>T rs1559596756
NM_001349338.3(FOXP1):c.1653_1669del (p.Asn552fs) rs2107156767
NM_001349338.3(FOXP1):c.1718_1722+8del rs2036047362
NM_001349338.3(FOXP1):c.2018del (p.Asn673fs) rs2106854788
NM_001349338.3(FOXP1):c.482_483dup (p.Gln162fs)
NM_001349338.3(FOXP1):c.488del (p.His163fs) rs2107113481
NM_001349338.3(FOXP1):c.494del (p.Gly165fs) rs2107113374
NM_001349338.3(FOXP1):c.501delinsTGTTGTTTT (p.Gln167fs)
NM_001349338.3(FOXP1):c.573dup (p.Gln192fs)
NM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter)
NM_001349338.3(FOXP1):c.604C>T (p.Gln202Ter)
NM_001349338.3(FOXP1):c.606del (p.Gly203fs) rs1553709907
NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) rs1553709881
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs) rs2049106504
NM_001349338.3(FOXP1):c.738del (p.Asn247fs) rs2106872055
NM_001349338.3(FOXP1):c.825del (p.Ser276fs) rs2106870085
NM_001349338.3(FOXP1):c.844_845del (p.Val283fs) rs1576373932
NM_001349338.3(FOXP1):c.869+1G>A rs763837297
NM_001349338.3(FOXP1):c.870-1G>C rs1576175491
NM_001349338.3(FOXP1):c.913_914del (p.His305fs)
NM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter)
NM_001349338.3(FOXP1):c.945del (p.Val316fs) rs2044341412
NM_001349338.3(FOXP1):c.975-2A>C rs1553685707
NM_001349338.3(FOXP1):c.975-2A>G rs1553685707
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter) rs2147218558
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter) rs782206262
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.582+1G>A rs1569476483
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) rs1569458475
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter) rs2147307979
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) rs2050112328
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs) rs2147266023
NM_001356.5(DDX3X):c.1025+1G>A rs2147354193
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys) rs797045026
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs) rs1555953819
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His) rs2063908570
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly) rs1602134248
NM_001356.5(DDX3X):c.1171-1G>C rs1602134459
NM_001356.5(DDX3X):c.1171-2A>G rs2147356545
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs) rs2147356679
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs) rs2147356723
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter) rs2147356745
NM_001356.5(DDX3X):c.1316-2A>G rs1602135698
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter) rs1569234653
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu) rs1555954105
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer) rs2063923605
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr) rs1569240005
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs) rs2147358635
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp) rs2063923749
NM_001356.5(DDX3X):c.1462C>T (p.Arg488Cys) rs796052234
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro) rs796052235
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001356.5(DDX3X):c.1499dup (p.Ala501fs)
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu) rs2063927503
NM_001356.5(DDX3X):c.152-1G>A rs1131691769
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr) rs797045024
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs) rs796052230
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr) rs796052226
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly) rs1555954284
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter) rs2147360033
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter) rs2063933550
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter) rs1602126980
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter) rs886041705
NM_001356.5(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter) rs2147348697
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter) rs886041589
NM_001356.5(DDX3X):c.255del (p.Phe85fs) rs1131691299
NM_001356.5(DDX3X):c.269dup (p.Ser90fs) rs1602127262
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs) rs1057518171
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
NM_001356.5(DDX3X):c.392C>G (p.Ser131Ter)
NM_001356.5(DDX3X):c.3G>T (p.Met1Ile)
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs) rs2147350816
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter) rs869312692
NM_001356.5(DDX3X):c.632_634delinsA (p.Ile211fs)
NM_001356.5(DDX3X):c.641_643del (p.Ile214del) rs2063876114
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter) rs2063876197
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs) rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg) rs2063876594
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter) rs2147340483
NM_001356.5(DDX3X):c.744C>T (p.Gly248=) rs1569238002
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter) rs752738546
NM_001356.5(DDX3X):c.770dup (p.Asn257fs) rs1555953398
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter) rs2063889019
NM_001356.5(DDX3X):c.822_824delinsGA (p.Thr275fs)
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs) rs1602131859
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs) rs1602131859
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter) rs2147353543
NM_001356.5(DDX3X):c.865-2A>G
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter) rs869320681
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
NM_001356.5(DDX3X):c.925C>T (p.Gln309Ter)
NM_001356.5(DDX3X):c.930dup (p.Arg311fs) rs2147353994
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter) rs1453153749
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys) rs1555953548
NM_001356.5(DDX3X):c.977G>A (p.Arg326His) rs797045025
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs) rs1602119305
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter) rs1556254569
NM_001367721.1(CASK):c.1315-7A>G rs1555986221
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter) rs387906705
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs) rs1569306724
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs) rs587783357
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1843-1G>A
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter) rs1555980033
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.1981del (p.Leu661fs) rs797045431
NM_001367721.1(CASK):c.1997dup (p.Asn666fs) rs1602253464
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
NM_001367721.1(CASK):c.2039+1G>A rs2147138207
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter) rs587783360
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
NM_001367721.1(CASK):c.20_27del (p.Leu7fs) rs587783362
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs) rs1569295677
NM_001367721.1(CASK):c.2317+1G>A rs1555975458
NM_001367721.1(CASK):c.2318-2A>G rs863224854
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter) rs749742837
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter) rs587783364
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs) rs797045433
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs) rs1555972628
NM_001367721.1(CASK):c.2604+1G>T rs1555972599
NM_001367721.1(CASK):c.278+2_278+3del
NM_001367721.1(CASK):c.291del (p.Asp98fs)
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter) rs387906704
NM_001367721.1(CASK):c.430-2A>T rs587783366
NM_001367721.1(CASK):c.533-2A>G rs1569380062
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro) rs1556014749
NM_001367721.1(CASK):c.68del (p.Phe23fs) rs1135401762
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
NM_001367721.1(CASK):c.708+1G>A rs587783368
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter) rs1602424764
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter) rs2147465256
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter) rs587783371
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001367721.1(CASK):c.915G>A (p.Lys305=) rs387906499
NM_001371928.1(AHDC1):c.1122del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.1125del (p.Pro376fs)
NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) rs2148289299
NM_001371928.1(AHDC1):c.1181_1182del (p.Cys394fs) rs2148288765
NM_001371928.1(AHDC1):c.1446del (p.Val483fs) rs2148286122
NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs) rs2019488878
NM_001371928.1(AHDC1):c.1481_1482del (p.Lys494fs) rs2148285877
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) rs1553159383
NM_001371928.1(AHDC1):c.1653del (p.Lys552fs)
NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) rs1064797043
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter) rs886041620
NM_001371928.1(AHDC1):c.1814_1819delinsT (p.Ala605fs) rs2148283415
NM_001371928.1(AHDC1):c.1889dup (p.Arg631fs)
NM_001371928.1(AHDC1):c.1945del (p.Ala649fs) rs796065042
NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) rs2019449305
NM_001371928.1(AHDC1):c.2036del (p.Gly679fs) rs2148281776
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) rs2019433712
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) rs1571236369
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs) rs886039900
NM_001371928.1(AHDC1):c.2268del (p.Ser757fs)
NM_001371928.1(AHDC1):c.2324dup (p.Trp776fs)
NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter) rs1571235473
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2415del (p.Leu806fs) rs2148277718
NM_001371928.1(AHDC1):c.2424_2425dup (p.Gly809fs) rs2148277610
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter) rs2148277199
NM_001371928.1(AHDC1):c.2520del (p.Arg841fs) rs2148276974
NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) rs587779768
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter) rs1297310572
NM_001371928.1(AHDC1):c.2651del (p.Gly884fs)
NM_001371928.1(AHDC1):c.2691del (p.Val898fs) rs886041676
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs) rs2148275240
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) rs777736953
NM_001371928.1(AHDC1):c.2849del (p.Pro950fs) rs2148273933
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) rs886041781
NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter) rs2148272898
NM_001371928.1(AHDC1):c.2948dup (p.Thr984fs) rs1571232632
NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)
NM_001371928.1(AHDC1):c.3060_3073del (p.Ala1021fs)
NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)
NM_001371928.1(AHDC1):c.3185_3186del (p.Thr1062fs) rs2019349792
NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter) rs1036650716
NM_001371928.1(AHDC1):c.3376C>T (p.Gln1126Ter)
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter) rs1557658942
NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter) rs1553158393
NM_001371928.1(AHDC1):c.3543dup (p.Phe1182fs)
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) rs1571229515
NM_001371928.1(AHDC1):c.3656G>A (p.Trp1219Ter) rs2148266336
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter) rs2148265222
NM_001371928.1(AHDC1):c.3809del (p.Gln1270fs) rs796065041
NM_001371928.1(AHDC1):c.3814C>T (p.Arg1272Ter) rs1135401761
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter) rs199659346
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs) rs2019248120
NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs) rs2148258069
NM_001371928.1(AHDC1):c.4540del (p.Ala1514fs)
NM_001371928.1(AHDC1):c.550del (p.Ala184fs) rs1553159979
NM_001371928.1(AHDC1):c.643dup (p.Ser215fs) rs2148293420
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter) rs2148292413
NM_001371928.1(AHDC1):c.809del (p.Glu270fs)
NM_001371928.1(AHDC1):c.898dup (p.Leu300fs)
NM_001371928.1(AHDC1):c.944dup (p.Ala316fs) rs1571242436
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter) rs1553159753
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220
NM_001371928.1(AHDC1):c.997del (p.Ala333fs) rs1557667078
NM_001374353.1(GLI2):c.3387G>A (p.Trp1129Ter) rs763165545
NM_001374828.1(ARID1B):c.1984C>T (p.Gln662Ter) rs1060499668
NM_001376.5(DYNC1H1):c.10008G>T (p.Lys3336Asn) rs397509410
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His) rs2152591288
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp) rs2048519381
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.10151G>A (p.Arg3384Gln) rs397509411
NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)
NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp) rs757725348
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys) rs869312693
NM_001376.5(DYNC1H1):c.10975dup (p.Arg3659fs)
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu) rs2152594747
NM_001376.5(DYNC1H1):c.11465A>C (p.His3822Pro) rs387906739
NM_001376.5(DYNC1H1):c.12684+5G>T
NM_001376.5(DYNC1H1):c.1396A>G (p.Met466Val) rs2141272574
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met) rs2047931446
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro) rs797045178
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala) rs2141274671
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu) rs879254085
NM_001376.5(DYNC1H1):c.1834G>A (p.Val612Met) rs1555408333
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.3185A>C (p.Asp1062Ala)
NM_001376.5(DYNC1H1):c.3269G>A (p.Arg1090Lys)
NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly) rs879253961
NM_001376.5(DYNC1H1):c.3814C>T (p.Arg1272Cys) rs2141284990
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4552G>A (p.Glu1518Lys) rs387906740
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln) rs797044901
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln) rs1064796765
NM_001376.5(DYNC1H1):c.5035C>T (p.Arg1679Trp) rs1351401023
NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys) rs879253881
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.751C>A (p.Arg251Ser) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.8234C>A (p.Thr2745Lys) rs2152583773
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp) rs2047850664
NM_001376.5(DYNC1H1):c.8780G>A (p.Arg2927His)
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His) rs797045177
NM_001376.5(DYNC1H1):c.9466C>T (p.Gln3156Ter)
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del) rs797044918
NM_001376.5(DYNC1H1):c.9928A>G (p.Met3310Val)
NM_001379200.1(TBX1):c.652del (p.Gln218fs) rs1936760837
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser) rs2147131515
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr) rs886040855
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met) rs886040856
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.3:c.4271_4367del
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.108_111del (p.Phe37fs)
NM_001429.4(EP300):c.1192C>T (p.Gln398Ter)
NM_001429.4(EP300):c.1423dup (p.Tyr475fs) rs2145715677
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) rs1601610306
NM_001429.4(EP300):c.1729del (p.Gln577fs)
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.1814dup (p.Met605fs)
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) rs1601613391
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.2333dup (p.Asn779fs) rs2145736063
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile) rs953108559
NM_001429.4(EP300):c.2734C>T (p.Gln912Ter)
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.3014_3015del (p.Asp1004_Cys1005insTer) rs2059050320
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs) rs1601621506
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter) rs1601623271
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3367del (p.Met1124fs) rs1601624722
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.3485dup (p.Tyr1162Ter) rs1601624790
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.3672_3673dup (p.Thr1225fs)
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3684del (p.Glu1229fs) rs2145754777
NM_001429.4(EP300):c.3707dup (p.Asn1236fs) rs1601628237
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.3826_3827dup (p.Leu1276fs) rs2145759333
NM_001429.4(EP300):c.3858_3859dup (p.Lys1287fs)
NM_001429.4(EP300):c.3905dup (p.Glu1303fs) rs2059152743
NM_001429.4(EP300):c.4026-9A>G rs2059153923
NM_001429.4(EP300):c.4065C>G (p.Tyr1355Ter) rs886043598
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter) rs1440862488
NM_001429.4(EP300):c.4073_4074dup (p.Ala1359fs) rs2059154269
NM_001429.4(EP300):c.4216_4219dup (p.Lys1407delinsThrTer) rs2145765098
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.4408dup (p.Met1470fs)
NM_001429.4(EP300):c.4444_4445dup (p.Asp1482fs)
NM_001429.4(EP300):c.4465C>T (p.Gln1489Ter)
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4513G>T (p.Glu1505Ter)
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4595del (p.Asn1532fs)
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4785del (p.Phe1596fs) rs2145512052
NM_001429.4(EP300):c.4826_4833dup (p.Ile1612fs) rs2145512343
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4873del (p.Asp1625fs) rs2145512676
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.4947dup (p.Ser1650fs)
NM_001429.4(EP300):c.494_497del (p.Met165fs) rs1601598354
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.5527dup (p.Gln1843fs)
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) rs1601640102
NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.584C>A (p.Ser195Ter) rs2058829252
NM_001429.4(EP300):c.5880dup (p.Pro1961fs)
NM_001429.4(EP300):c.5961_5962del (p.Gly1988fs)
NM_001429.4(EP300):c.598C>T (p.Arg200Ter) rs769721953
NM_001429.4(EP300):c.6101del (p.Gly2034fs) rs2145519321
NM_001429.4(EP300):c.6298_6317del (p.Ile2100fs)
NM_001429.4(EP300):c.6323del (p.Gln2108fs)
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.650dup (p.Asn217fs) rs2145697647
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6739dup (p.Gln2247fs)
NM_001429.4(EP300):c.6787C>T (p.Arg2263Ter)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.70_71del (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7222_7223del (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) rs1601642812
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4(EP300):c.832del (p.Thr278fs) rs2058879988
NM_001429.4:c.730_1760del
NM_001551.3(IGBP1):c.-57_-55delinsAA rs2147562704
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter) rs2147167432
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met) rs1569231897
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg) rs587777161
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp) rs879255584
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg) rs1569233549
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser) rs1569226551
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs) rs1923775114
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val) rs1569230006
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter) rs2147179499
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile) rs1064796023
NM_001830.4(CLCN4):c.980G>A (p.Trp327Ter)
NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter) rs1454068577
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_001904.4(CTNNB1):c.1082-1G>C rs2125637461
NM_001904.4(CTNNB1):c.1183C>T (p.Gln395Ter)
NM_001904.4(CTNNB1):c.1185+1dup
NM_001904.4(CTNNB1):c.1272_1275del (p.Ser425fs) rs398122907
NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) rs1559474364
NM_001904.4(CTNNB1):c.133del (p.Ser45fs) rs2125617589
NM_001904.4(CTNNB1):c.1350dup (p.Val451fs) rs2125639718
NM_001904.4(CTNNB1):c.1351dup (p.Val451fs)
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter) rs1559474966
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1612C>T (p.Gln538Ter)
NM_001904.4(CTNNB1):c.163G>T (p.Glu55Ter) rs2125617859
NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)
NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter) rs1131692181
NM_001904.4(CTNNB1):c.1683+1del
NM_001904.4(CTNNB1):c.1706del (p.Ile569fs) rs2125644627
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter) rs1575334103
NM_001904.4(CTNNB1):c.1904dup (p.Ala636fs)
NM_001904.4(CTNNB1):c.1924G>T (p.Glu642Ter) rs2078436466
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)
NM_001904.4(CTNNB1):c.1962T>G (p.Tyr654Ter) rs750402920
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_001904.4(CTNNB1):c.1981del (p.Arg661fs)
NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) rs886041553
NM_001904.4(CTNNB1):c.2008dup (p.Tyr670fs) rs2125647138
NM_001904.4(CTNNB1):c.2083del (p.Asp695fs)
NM_001904.4(CTNNB1):c.211dup (p.Ser71fs) rs1575315766
NM_001904.4(CTNNB1):c.242-1G>T
NM_001904.4(CTNNB1):c.242-3C>A
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) rs1369821061
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer) rs2078141730
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter) rs1553630279
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys) rs1553630304
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs) rs1575316657
NM_001904.4(CTNNB1):c.495+1G>C rs1559468403
NM_001904.4(CTNNB1):c.564dup (p.Met189fs) rs2125622579
NM_001904.4(CTNNB1):c.646G>A (p.Gly216Arg) rs2125623075
NM_001904.4(CTNNB1):c.705dup (p.Gly236fs) rs587777412
NM_001904.4(CTNNB1):c.735-1G>A
NM_001904.4(CTNNB1):c.735-22_747del
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_001904.4(CTNNB1):c.811del (p.Met271fs) rs2078160335
NM_001904.4(CTNNB1):c.81dup (p.Gln28fs)
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs) rs1553630507
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter) rs376393123
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) rs886041281
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter) rs778624338
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu) rs761094724
NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln) rs2147065620
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met) rs1601761445
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)
NM_002547.2(OPHN1):c.313_326del
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_002547.3(OPHN1):c.1579del (p.Ile527fs) rs1569211016
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp) rs2147627388
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter) rs137854493
NM_002547.3(OPHN1):c.2159-1G>C rs2147349266
NM_002547.3(OPHN1):c.384+1G>A rs2147594453
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter) rs587784234
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_002547.3(OPHN1):c.644_645del (p.Val215fs) rs1569244467
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs) rs1569243931
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) rs2130464312
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg) rs1821653681
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln) rs281875199
NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn) rs1554624100
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu) rs1822649338
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) rs387907194
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly) rs2130599529
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)
NM_003128.3(SPTBN1):c.2275_2285del (p.Trp759fs) rs2103925559
NM_003336.4(UBE2A):c.126-2A>G
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) rs387906728
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) rs104894952
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) rs1556235551
NM_003410.4(ZFX):c.115_116del (p.Val39fs)
NM_003410.4(ZFX):c.1319dup (p.Leu440fs)
NM_003410.4(ZFX):c.1996_1997del (p.Met666fs)
NM_003410.4(ZFX):c.2312C>T (p.Thr771Met)
NM_003410.4(ZFX):c.2321A>G (p.Tyr774Cys)
NM_003410.4(ZFX):c.2357G>A (p.Arg786Gln)
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro) rs387906701
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser) rs863225427
NM_003491.4(NAA10):c.16G>C (p.Ala6Pro) rs2148537138
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg) rs2065171820
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.332T>G (p.Val111Gly) rs1557107528
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) rs878853263
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro) rs2065169457
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003491.4(NAA10):c.455_458del (p.Thr152fs) rs2148534324
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003491.4(NAA10):c.472-2A>C rs2065158556
NM_003491.4(NAA10):c.47A>C (p.His16Pro) rs2065185202
NM_003491.4(NAA10):c.494_495del (p.Lys165fs) rs1569546255
NM_003620.4(PPM1D):c.1204_1208del (p.Asn402fs)
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1216dup (p.Thr406fs)
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter) rs189669693
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs) rs1567977657
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs) rs1064797100
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs) rs1598413570
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003620.4(PPM1D):c.1278dup (p.Trp427fs) rs2031551825
NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)
NM_003620.4(PPM1D):c.1288del (p.Arg429_Val430insTer)
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs) rs2031555258
NM_003620.4(PPM1D):c.1503_1507del (p.Ser503fs)
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003688.3:c.116_117delCA
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.12dup (p.Ser5fs) rs2146978931
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs) rs2146919819
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_004187.5(KDM5C):c.1866G>A (p.Trp622Ter)
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter) rs2146852767
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) rs1556836399
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) rs1934751829
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) rs1934657828
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs) rs1060499661
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu) rs2146978491
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs) rs1567386034
NM_004380.3(CREBBP):c.1044del (p.Glu349fs) rs1596948052
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_004380.3(CREBBP):c.1068del (p.Gln356fs)
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1216+2T>A rs1596947522
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs) rs1596944340
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter) rs587783463
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs) rs1567316655
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter) rs2053306001
NM_004380.3(CREBBP):c.1388_1395del (p.Gly463fs) rs2053305017
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter) rs1555484797
NM_004380.3(CREBBP):c.1476C>A (p.Tyr492Ter)
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter) rs1596920745
NM_004380.3(CREBBP):c.1519dup (p.Gln507fs)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1590del (p.Asn530fs) rs587783465
NM_004380.3(CREBBP):c.1612dup (p.Thr538fs)
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter) rs398124138
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.1663del (p.Leu555fs) rs2053266530
NM_004380.3(CREBBP):c.1676+2_1676+5del rs2141247044
NM_004380.3(CREBBP):c.1694del (p.Gly565fs) rs1596916327
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1821del (p.Lys607fs) rs587783467
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs) rs1596909915
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1911del (p.Asp639fs) rs2141237372
NM_004380.3(CREBBP):c.1917dup (p.Met640fs) rs1567306142
NM_004380.3(CREBBP):c.1941+1G>A rs1555483834
NM_004380.3(CREBBP):c.1941+1G>T rs1555483834
NM_004380.3(CREBBP):c.1941+2T>C rs1596909656
NM_004380.3(CREBBP):c.1941+5G>A rs2053202354
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter) rs2053190428
NM_004380.3(CREBBP):c.2005_2006delinsT (p.Lys668_Arg669insTer) rs1596908213
NM_004380.3(CREBBP):c.201_202del (p.His67fs)
NM_004380.3(CREBBP):c.2026del (p.Gln676fs) rs587783469
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs) rs587783470
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2178dup (p.Met727fs) rs797045483
NM_004380.3(CREBBP):c.2233del (p.Ser745fs) rs2053092574
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter) rs1057520652
NM_004380.3(CREBBP):c.2322del (p.Asn774fs) rs1596895545
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) rs2141214738
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2464-6T>A rs2052993184
NM_004380.3(CREBBP):c.2526_2529dup (p.Pro844fs)
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter) rs587783471
NM_004380.3(CREBBP):c.2574dup (p.Pro859fs) rs2141203402
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs) rs587783473
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs) rs797045484
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs) rs1596886295
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter) rs1596886183
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter) rs1596886132
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs) rs1596886048
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter) rs587783475
NM_004380.3(CREBBP):c.2794del (p.Thr932fs) rs2052980008
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs) rs797045485
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)
NM_004380.3(CREBBP):c.2840_2862del (p.Gln947fs)
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs) rs1596885651
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_004380.3(CREBBP):c.2881-13G>A rs751913060
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs) rs1596882629
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter) rs1374436403
NM_004380.3(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) rs1596882124
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter) rs1596882010
NM_004380.3(CREBBP):c.3060+1G>T rs1596882004
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030
NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer) rs797045488
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3099_3102del (p.Glu1034fs)
NM_004380.3(CREBBP):c.3128C>G (p.Ser1043Ter)
NM_004380.3(CREBBP):c.314_315del (p.Gly105fs) rs1597054430
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter) rs587783479
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs) rs1596856285
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs) rs1596856176
NM_004380.3(CREBBP):c.3369+1G>A rs587783480
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3369+1del rs2151385509
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro) rs2151383792
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs) rs1596854369
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) rs797045489
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs) rs797045490
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_004380.3(CREBBP):c.3494_3497dup (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3499del (p.Tyr1167fs)
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs) rs2052622209
NM_004380.3(CREBBP):c.3610-1G>A rs1596852670
NM_004380.3(CREBBP):c.3610-1G>C rs1596852670
NM_004380.3(CREBBP):c.3610-2A>G rs1596852674
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter) rs587783482
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3634_3638del (p.Cys1212fs) rs2052610724
NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs) rs1596852463
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs) rs1596852443
NM_004380.3(CREBBP):c.3676del (p.Ala1226fs) rs2151381815
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys) rs1057518844
NM_004380.3(CREBBP):c.3699-1469_3836+1579del
NM_004380.3(CREBBP):c.36del (p.Arg14fs) rs2055490682
NM_004380.3(CREBBP):c.3748_3749dup (p.Leu1251fs)
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter) rs1597054242
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs) rs1596834998
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3836+1G>C rs200782888
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.3914+1G>A rs1555475352
NM_004380.3(CREBBP):c.3914+1G>T rs1555475352
NM_004380.3(CREBBP):c.3977del (p.Ala1326fs) rs1567276741
NM_004380.3(CREBBP):c.3982+1G>A rs398124145
NM_004380.3(CREBBP):c.3983-2A>G rs587783486
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter) rs587783489
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs) rs1596813570
NM_004380.3(CREBBP):c.4133+1G>A rs587783491
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter) rs1596812306
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs) rs1596812256
NM_004380.3(CREBBP):c.4230dup (p.Gly1411fs) rs1555473668
NM_004380.3(CREBBP):c.4232del (p.Gly1411fs)
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter) rs1596810465
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu) rs1555473491
NM_004380.3(CREBBP):c.4395-3_4395-1delinsTCAC
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) rs147688139
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs) rs2151330140
NM_004380.3(CREBBP):c.4404dup (p.Gly1469fs) rs2052073167
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) rs587783495
NM_004380.3(CREBBP):c.4457_4458del (p.Cys1486fs)
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs) rs1596805807
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser) rs199817036
NM_004380.3(CREBBP):c.4482del (p.Lys1495fs)
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter) rs2052070776
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) rs587783497
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg) rs1596805575
NM_004380.3(CREBBP):c.4561-1G>A rs2151327974
NM_004380.3(CREBBP):c.4561-2A>G
NM_004380.3(CREBBP):c.4561-2A>T rs2151327978
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup) rs1596804073
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter) rs1567269316
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter) rs1555472931
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter) rs778375586
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs) rs2151327706
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs) rs587783499
NM_004380.3(CREBBP):c.4728+2del rs1596803811
NM_004380.3(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_004380.3(CREBBP):c.4743del (p.Asp1581fs)
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs) rs587783500
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs) rs2055490250
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.4944dup (p.Ile1649fs) rs2151317319
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
NM_004380.3(CREBBP):c.49del (p.Leu17fs) rs2055490182
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter) rs1555471874
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter) rs797045495
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter) rs2051909999
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) rs2051906390
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) rs146718571
NM_004380.3(CREBBP):c.521del (p.Gly174fs)
NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs) rs2151311901
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) rs2151309803
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs) rs1567263114
NM_004380.3(CREBBP):c.567del (p.Asn190fs) rs2054809165
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs) rs1555471323
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) rs2151308835
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter) rs2151308298
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.581del (p.Gly194fs) rs2141491677
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) rs587783505
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs) rs587783506
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs) rs1596786219
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs) rs1596786167
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs) rs587783508
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter) rs1567262537
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs) rs797045498
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs) rs1596785514
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) rs587783510
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs) rs2051830234
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs) rs797045499
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs) rs1596784713
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004380.3(CREBBP):c.6116dup (p.Ile2040fs)
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)
NM_004380.3(CREBBP):c.6238_6239del (p.Pro2080fs)
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) rs1057518789
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs) rs797045500
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs) rs797045500
NM_004380.3(CREBBP):c.6404delinsTGC (p.Gln2135fs) rs2051819669
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) rs1596783639
NM_004380.3(CREBBP):c.6466_6476del (p.Pro2156fs)
NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)
NM_004380.3(CREBBP):c.761_767del (p.Ala254fs)
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter) rs2053923868
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_004380.3(CREBBP):c.828_840del (p.Phe276fs)
NM_004380.3(CREBBP):c.85+2T>G
NM_004380.3(CREBBP):c.851_854delinsCCCTC (p.Gly284fs)
NM_004380.3(CREBBP):c.851del (p.Gly284fs)
NM_004380.3(CREBBP):c.86-1G>T rs11644721
NM_004380.3(CREBBP):c.86-2A>C rs587783515
NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)
NM_004380.3(CREBBP):c.904_905del (p.Ser302fs)
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs) rs1596984633
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter) rs1596948165
NM_004586.3(RPS6KA3):c.1000-2A>G rs2148664125
NM_004586.3(RPS6KA3):c.1052_1056delinsTGAG (p.Pro351fs)
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
NM_004586.3(RPS6KA3):c.1602+2dup
NM_004586.3(RPS6KA3):c.1615_1616del (p.Asp539fs)
NM_004586.3(RPS6KA3):c.1686dup (p.Gly563fs)
NM_004586.3(RPS6KA3):c.1740C>A (p.Tyr580Ter)
NM_004586.3(RPS6KA3):c.1765-2A>C rs2067343280
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
NM_004586.3(RPS6KA3):c.2101-2A>G
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs) rs2148622591
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2162_2168del (p.Val721fs)
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs) rs1603417191
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004586.3(RPS6KA3):c.244-1G>A
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer) rs2148721944
NM_004586.3(RPS6KA3):c.283C>T (p.Gln95Ter)
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.407-1G>T
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter) rs2148701884
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.593+2_593+5del rs1555942692
NM_004586.3(RPS6KA3):c.602T>C (p.Leu201Pro)
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.632-2A>C rs2148686736
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter) rs1603425345
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs) rs2148686409
NM_004586.3(RPS6KA3):c.755G>A (p.Trp252Ter)
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs) rs2148686334
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004586.3(RPS6KA3):c.845+5G>A
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter) rs1603422409
NM_004586.3(RPS6KA3):c.909_910insT (p.Lys304Ter)
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.335C>T (p.Pro112Leu) rs2147517480
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.608G>A (p.Gly203Asp) rs1924650670
NM_004595.5(SMS):c.661-13A>C
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val) rs2033670961
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) rs2148276174
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg) rs864321628
NM_004606.5(TAF1):c.2866G>C (p.Asp956His) rs864321631
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) rs1569301036
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr) rs864321627
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) rs2148488251
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His) rs1602624914
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1924_1974+17dup
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3129del (p.Ser1044fs)
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.6352C>T (p.Gln2118Ter)
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_005481.3(MED16):c.385dup (p.Asp129fs)
NM_005481.3(MED16):c.932T>C (p.Leu311Pro)
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) rs1565962725
NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)
NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs)
NM_005654.6(NR2F1):c.1083del (p.Asn362fs) rs2149946049
NM_005654.6(NR2F1):c.120del (p.Gln40fs) rs1753206907
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) rs1753208096
NM_005654.6(NR2F1):c.274A>T (p.Lys92Ter)
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg)
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) rs2149941586
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His) rs2149941592
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) rs1022192010
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) rs1057519434
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) rs1753213218
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter) rs1306612236
NM_005654.6(NR2F1):c.53del (p.Gly18fs)
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005654.6(NR2F1):c.763dup (p.Thr255fs)
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter) rs2149943098
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) rs1342982789
NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter)
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs) rs1580360308
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)
NM_005765.3(ATP6AP2):c.301-11_301-10del rs1926795050
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=) rs397518480
NM_006013.5(RPL10):c.191C>T (p.Ala64Val) rs1131692042
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.5(RPL10):c.452C>T (p.Ala151Val)
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser) rs1131692041
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys) rs863225080
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser) rs757369209
NM_006245.4(PPP2R5D):c.253C>T (p.Arg85Ter) rs1762094766
NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met) rs2150278470
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys) rs863225079
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) rs876657383
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg) rs869320691
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser) rs2150278804
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro) rs1762136390
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His) rs1762178916
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala) rs1064794719
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006245.4(PPP2R5D):c.758G>C (p.Arg253Pro) rs1131691266
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp) rs864309514
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006517.5(SLC16A2):c.-6_430+5del rs2147833779
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter) rs1380635081
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val) rs1602143383
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1341_1347del (p.Ile448fs)
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs) rs1602143432
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) rs794727799
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter) rs1569281085
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.407del (p.Asn136fs) rs1602099961
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter) rs1555989364
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg) rs1602140936
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter) rs1930398120
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) rs794727509
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs) rs2147870614
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter) rs1930463806
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln) rs2147777346
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro) rs2147777343
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
NM_006521.6(TFE3):c.559A>G (p.Thr187Ala) rs2147776463
NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg) rs2064742925
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006521.6(TFE3):c.572T>C (p.Leu191Pro)
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro) rs2147776381
NM_006521.6(TFE3):c.780+1G>A rs2147776168
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1117C>G (p.His373Asp) rs2142847326
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1223_1226del (p.Glu408fs) rs2142849423
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006565.4(CTCF):c.148dup (p.Val50fs) rs2142823841
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) rs200677445
NM_006565.4(CTCF):c.292_293del (p.Leu98fs) rs2142824576
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006565.4(CTCF):c.375dup (p.Val126fs) rs879255570
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys) rs2142826609
NM_006565.4(CTCF):c.688del (p.Glu230fs) rs2142826656
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931
NM_006565.4(CTCF):c.782-2A>T
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer) rs2142828055
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs) rs2150886504
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) rs2150886359
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) rs1822554467
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3039+1G>A rs1554681382
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter) rs755669455
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.3898dup (p.Glu1300fs)
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) rs2150856163
NM_006766.5(KAT6A):c.441dup (p.Arg148fs)
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.907+1del rs1564038389
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006766.5:c.3411del rs2150857178
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
NM_006908.5(RAC1):c.151G>A (p.Val51Met) rs1554263625
NM_006908.5(RAC1):c.151G>C (p.Val51Leu) rs1554263625
NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)
NM_006908.5(RAC1):c.184G>A (p.Glu62Lys)
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp) rs1554263626
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys) rs2115201389
NM_006908.5(RAC1):c.202C>A (p.Arg68Ser)
NM_006908.5(RAC1):c.202C>G (p.Arg68Gly)
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu) rs2115201441
NM_006908.5(RAC1):c.470G>A (p.Cys157Tyr) rs1554264268
NM_006908.5(RAC1):c.475G>A (p.Ala159Thr)
NM_006908.5(RAC1):c.53G>A (p.Cys18Tyr) rs1554263326
NM_006908.5(RAC1):c.94T>C (p.Tyr32His)
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1144del (p.Asp382fs)
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs) rs2147912678
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1385dup (p.Pro463fs) rs2147912440
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1500_1519del (p.Gly501fs)
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1682dup (p.Gln562fs) rs2147912165
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1769_1790dup (p.Gly599fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs) rs2147912005
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) rs2057941229
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.361G>T (p.Glu121Ter) rs1183386473
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.433_434del (p.Gln145fs) rs2147928664
NM_006950.3(SYN1):c.527+1G>T
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_006950.3(SYN1):c.769G>T (p.Glu257Ter)
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
NM_007118.3(TRIO):c.7425dup (p.Ser2476Glnfs) rs774597492
NM_007118.4(TRIO):c.1732-1G>C
NM_007118.4(TRIO):c.2046+1G>A
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.298del (p.Arg100fs) rs1735893497
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys) rs1746763024
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4231C>T (p.Arg1411Ter)
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4406A>G (p.His1469Arg) rs1554070777
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.5203+1_5203+2dup rs1749983541
NM_007118.4(TRIO):c.5491_5496+12del
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter) rs1057516029
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter) rs879255624
NM_007118.4(TRIO):c.7048_7051del (p.Pro2350fs)
NM_007118.4(TRIO):c.7050dup (p.Val2351fs) rs746654944
NM_007118.4(TRIO):c.838C>T (p.Gln280Ter) rs2152285036
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs) rs2147384890
NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val) rs140908982
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg) rs587777361
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser) rs137852351
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser) rs1135401788
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys) rs2147401116
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr) rs137852352
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg) rs137852350
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) rs139990565
NM_007363.5(NONO):c.107del (p.Pro36fs) rs1602385860
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter) rs869025345
NM_007363.5(NONO):c.1131G>A (p.Ala377=) rs869025343
NM_007363.5(NONO):c.1171+1G>T rs876661316
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys) rs1114167441
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_007363.5(NONO):c.154+1GT[2]
NM_007363.5(NONO):c.201_202dup (p.Lys68fs) rs2148033408
NM_007363.5(NONO):c.279_282del (p.Phe94fs) rs2148033495
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
NM_007363.5(NONO):c.457C>T (p.Arg153Ter) rs2031389522
NM_007363.5(NONO):c.550C>T (p.Arg184Ter) rs1602387702
NM_007363.5(NONO):c.731dup (p.Asn244fs) rs1555950011
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs)
NM_013275.6(ANKRD11):c.-145+634_-145+1315del rs2152385271
NM_013275.6(ANKRD11):c.-145+88_-145+103del rs2152388054
NM_013275.6(ANKRD11):c.1199del (p.Lys400fs)
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter) rs1414996600
NM_013275.6(ANKRD11):c.1286C>A (p.Ser429Ter)
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter) rs771973198
NM_013275.6(ANKRD11):c.1357A>T (p.Lys453Ter)
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter) rs900492387
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs) rs2034559427
NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs) rs1555529726
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter) rs2151764291
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1477_1478del (p.Arg493fs) rs1597464360
NM_013275.6(ANKRD11):c.1558del (p.Ala520fs) rs2151763801
NM_013275.6(ANKRD11):c.1583dup (p.Ser528fs)
NM_013275.6(ANKRD11):c.158_170del (p.Glu53fs)
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_013275.6(ANKRD11):c.1616_1617del (p.Thr539fs)
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter) rs1156815415
NM_013275.6(ANKRD11):c.1645_1648del (p.Asp549fs)
NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.1731dup (p.Asp578Ter)
NM_013275.6(ANKRD11):c.1742_1743del (p.Ser580_Ser581insTer) rs2151762916
NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs) rs2034524807
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter) rs772229371
NM_013275.6(ANKRD11):c.1893del (p.Lys631fs) rs2151762237
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs) rs2034516672
NM_013275.6(ANKRD11):c.1901_1904del (p.Thr634fs) rs2151762177
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter) rs2034511189
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2054_2055del (p.Lys685fs) rs2151761605
NM_013275.6(ANKRD11):c.2088dup (p.Glu697fs)
NM_013275.6(ANKRD11):c.2090_2091del (p.Glu697fs)
NM_013275.6(ANKRD11):c.2162_2165del (p.Ile721fs)
NM_013275.6(ANKRD11):c.2166dup (p.Asp723fs) rs2151761217
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs) rs2151761128
NM_013275.6(ANKRD11):c.2184del (p.Ser729fs)
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) rs886041791
NM_013275.6(ANKRD11):c.226+1G>A rs2151869895
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs) rs1597461334
NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs) rs2151760723
NM_013275.6(ANKRD11):c.2280_2281del (p.Tyr761fs)
NM_013275.6(ANKRD11):c.2288_2289del (p.Glu763fs) rs2151760656
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter) rs2034488113
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter) rs1597461100
NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs) rs2034485034
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter) rs2034483683
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter) rs2151760280
NM_013275.6(ANKRD11):c.2368_2369delinsTTCT (p.Glu790fs)
NM_013275.6(ANKRD11):c.2394del (p.Asp798fs)
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter) rs1597460545
NM_013275.6(ANKRD11):c.249del (p.Arg84fs) rs2035039338
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter) rs2034471125
NM_013275.6(ANKRD11):c.2516_2517del (p.Asp839fs)
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter) rs2151759503
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs) rs1597460246
NM_013275.6(ANKRD11):c.2607dup (p.Ser870fs)
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs) rs2034464204
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs) rs2034464059
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter) rs1135401804
NM_013275.6(ANKRD11):c.2650del (p.Asp884fs)
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter) rs780011005
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter) rs1597459649
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_013275.6(ANKRD11):c.2751_2752delinsCT (p.Glu918Ter)
NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter) rs2034453469
NM_013275.6(ANKRD11):c.276_292del (p.Lys93fs)
NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs) rs2034450158
NM_013275.6(ANKRD11):c.2803dup (p.Ser935fs)
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs) rs1597459077
NM_013275.6(ANKRD11):c.2828_2829del (p.Glu943fs)
NM_013275.6(ANKRD11):c.2947_2948del (p.Ser983fs)
NM_013275.6(ANKRD11):c.2968delinsCA (p.Asp990fs)
NM_013275.6(ANKRD11):c.2969dup (p.Asp990fs)
NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)
NM_013275.6(ANKRD11):c.3024_3025dup (p.Lys1009fs)
NM_013275.6(ANKRD11):c.3028G>T (p.Glu1010Ter)
NM_013275.6(ANKRD11):c.3045dup (p.Asp1016fs)
NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs) rs2034426153
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3123_3126del (p.Ile1042fs)
NM_013275.6(ANKRD11):c.3127del (p.Leu1043fs) rs2151756343
NM_013275.6(ANKRD11):c.3151_3152del (p.Glu1051fs)
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)
NM_013275.6(ANKRD11):c.3219_3220del (p.Asp1073fs) rs2034416153
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3239_3240del (p.Leu1080fs)
NM_013275.6(ANKRD11):c.323del (p.Gly108fs)
NM_013275.6(ANKRD11):c.3240del (p.Asp1081fs)
NM_013275.6(ANKRD11):c.3309del (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs) rs772267579
NM_013275.6(ANKRD11):c.3319_3322del (p.Lys1107fs) rs2151755532
NM_013275.6(ANKRD11):c.3367_3368del (p.Glu1122_Ser1123insTer) rs2034404764
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3509_3512del (p.Lys1170fs)
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_013275.6(ANKRD11):c.3586_3587del (p.Asp1196fs)
NM_013275.6(ANKRD11):c.3603_3604del (p.Val1201_Phe1202insTer)
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter) rs2034378960
NM_013275.6(ANKRD11):c.3672del (p.Ser1225fs)
NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs) rs2151753736
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs) rs1567572265
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs) rs2034368063
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs) rs2151753260
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)
NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)
NM_013275.6(ANKRD11):c.3843dup (p.Glu1282Ter) rs2151753014
NM_013275.6(ANKRD11):c.3907del (p.Val1303fs)
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer) rs2034351295
NM_013275.6(ANKRD11):c.3936dup (p.Gln1313fs)
NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer) rs2034350757
NM_013275.6(ANKRD11):c.397+1G>A rs2151797766
NM_013275.6(ANKRD11):c.4016dup (p.Cys1339fs)
NM_013275.6(ANKRD11):c.4055_4058del (p.His1352fs) rs2151751963
NM_013275.6(ANKRD11):c.4061C>G (p.Ser1354Ter)
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter) rs1364690005
NM_013275.6(ANKRD11):c.4109_4124dup (p.Lys1376fs)
NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)
NM_013275.6(ANKRD11):c.4148_4151del (p.Gly1383fs)
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter) rs764501022
NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter) rs1567592494
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter) rs148501903
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs) rs1597452422
NM_013275.6(ANKRD11):c.4287_4288del (p.Asp1429fs)
NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)
NM_013275.6(ANKRD11):c.4334dup (p.Pro1447fs)
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)
NM_013275.6(ANKRD11):c.4370_4371del (p.Lys1457fs) rs2151750249
NM_013275.6(ANKRD11):c.4370_4373del (p.Lys1457fs)
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs) rs2034307984
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs) rs886041521
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs) rs1597451815
NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs) rs2151750068
NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)
NM_013275.6(ANKRD11):c.4489_4490del (p.Arg1497fs) rs2151749530
NM_013275.6(ANKRD11):c.4510_4532del (p.Thr1504fs)
NM_013275.6(ANKRD11):c.4649del (p.Asn1550fs)
NM_013275.6(ANKRD11):c.4742_4743insAT (p.Phe1583fs)
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter) rs2034272227
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter) rs2034270521
NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)
NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5117del (p.Pro1706fs) rs2151746362
NM_013275.6(ANKRD11):c.5117dup (p.Thr1707fs) rs2151746362
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter) rs1298649064
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter) rs2151745705
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs) rs2034218920
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)
NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter) rs2034195603
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs) rs2034195455
NM_013275.6(ANKRD11):c.5447del (p.Pro1816fs) rs2151744307
NM_013275.6(ANKRD11):c.5494_5495del (p.Arg1832fs) rs2151743944
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter) rs2034182420
NM_013275.6(ANKRD11):c.5564_5565del (p.Tyr1855fs)
NM_013275.6(ANKRD11):c.5647_5651del (p.Phe1883fs) rs2151742756
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter) rs2151742685
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs) rs1163944246
NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter) rs2151796546
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs) rs1597443966
NM_013275.6(ANKRD11):c.5813_5817del (p.Pro1938fs)
NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter) rs1184729090
NM_013275.6(ANKRD11):c.5859del (p.Ser1954fs) rs2034143217
NM_013275.6(ANKRD11):c.5953_5954del (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6014del (p.Pro2005fs)
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs) rs879253753
NM_013275.6(ANKRD11):c.6031_6041del (p.Ser2011fs) rs1597441860
NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)
NM_013275.6(ANKRD11):c.6075C>G (p.Tyr2025Ter)
NM_013275.6(ANKRD11):c.6177del (p.Ser2060fs)
NM_013275.6(ANKRD11):c.618del (p.His206fs) rs1597477691
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.6218del (p.Pro2073fs) rs1057518987
NM_013275.6(ANKRD11):c.6298_6299dup (p.Asn2100fs)
NM_013275.6(ANKRD11):c.6320dup (p.Gly2108fs) rs2151737119
NM_013275.6(ANKRD11):c.6360G>A (p.Trp2120Ter)
NM_013275.6(ANKRD11):c.6465del (p.Val2156fs)
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6513del (p.Val2173fs) rs1555525603
NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter) rs2151735444
NM_013275.6(ANKRD11):c.6569_6609dup (p.Glu2204fs) rs2151735043
NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs) rs2151735128
NM_013275.6(ANKRD11):c.6600_6601del (p.Ala2201fs)
NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter) rs2151734908
NM_013275.6(ANKRD11):c.6624_6625del (p.Glu2210fs) rs1555525517
NM_013275.6(ANKRD11):c.6628G>T (p.Glu2210Ter)
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6688_6689del (p.Arg2230fs) rs1597436476
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter) rs1597435896
NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)
NM_013275.6(ANKRD11):c.6772dup (p.Ala2258fs) rs2151733753
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) rs1135401815
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6793del (p.Ala2265fs) rs2151733504
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs) rs1597435393
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs) rs1555525296
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs) rs2033996047
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs) rs1555525115
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_013275.6(ANKRD11):c.7018dup (p.Arg2340fs)
NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)
NM_013275.6(ANKRD11):c.7048_7050del (p.Gln2350del)
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs) rs886041942
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs) rs2033967776
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_013275.6(ANKRD11):c.7234del (p.Gln2412fs)
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)
NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs) rs2033941632
NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter) rs1555524861
NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro)
NM_013275.6(ANKRD11):c.744+1G>T
NM_013275.6(ANKRD11):c.7470+1G>C rs2151728882
NM_013275.6(ANKRD11):c.7470+5G>C
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg) rs2151703550
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter) rs572878194
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln) rs2033535934
NM_013275.6(ANKRD11):c.7569+1G>A rs797044890
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly) rs2033513257
NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp) rs2151701893
NM_013275.6(ANKRD11):c.7617_7629del (p.His2538_Cys2539insTer) rs2151701755
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp) rs1555523386
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
NM_013275.6(ANKRD11):c.7806+1G>T rs2151675590
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter) rs797044900
NM_013275.6(ANKRD11):c.825dup (p.Ser276fs)
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835
NM_013275.6(ANKRD11):c.894_916del (p.Glu298fs) rs2034595868
NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)
NM_013275.6(ANKRD11):c.980_993del (p.Leu327fs) rs2151766539
NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
NM_014795.3(ZEB2):c.404-?_(*5076_?)del
NM_014795.3:c.1439_1440insAlu
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer) rs1573717685
NM_014795.4(ZEB2):c.101_102del (p.Thr34fs)
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1038_1039del (p.Asn346fs) rs2149877500
NM_014795.4(ZEB2):c.1052del (p.Gly351fs) rs2149877492
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs) rs1703290664
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) rs797046117
NM_014795.4(ZEB2):c.1161dup (p.Leu388fs)
NM_014795.4(ZEB2):c.1170del (p.Thr392fs) rs2149877432
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) rs786204805
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1185_1186insCAAT (p.Asp396delinsGlnTer)
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer) rs2149877421
NM_014795.4(ZEB2):c.1209del (p.Met404fs) rs2149877416
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1242_1249del (p.Phe415fs) rs2149877380
NM_014795.4(ZEB2):c.1257del (p.Gly421fs) rs786204801
NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.1342del (p.Thr452fs)
NM_014795.4(ZEB2):c.1349_1350del (p.Phe450fs)
NM_014795.4(ZEB2):c.1364del (p.Ser455fs)
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) rs786204814
NM_014795.4(ZEB2):c.1420C>T (p.Gln474Ter) rs2149877279
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter) rs756778602
NM_014795.4(ZEB2):c.1474A>T (p.Lys492Ter)
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) rs1553961695
NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs) rs1703280501
NM_014795.4(ZEB2):c.1556del (p.Asn519fs) rs1703280349
NM_014795.4(ZEB2):c.1564del (p.Thr522fs)
NM_014795.4(ZEB2):c.1570dup (p.Ser524fs) rs1560606974
NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)
NM_014795.4(ZEB2):c.1630_1631del (p.Thr544fs) rs2149877154
NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1653del (p.Ser552fs) rs786204820
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) rs786204819
NM_014795.4(ZEB2):c.1700_1703del (p.Thr567fs)
NM_014795.4(ZEB2):c.1700_1703dup (p.Asp568_Asp569insTer) rs2149877112
NM_014795.4(ZEB2):c.1747del (p.Cys583fs) rs2149877082
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) rs786204808
NM_014795.4(ZEB2):c.1754del (p.Phe585fs) rs786204809
NM_014795.4(ZEB2):c.1770del (p.Pro591fs) rs1703277223
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.1848del (p.His617fs) rs2149877032
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1866dup (p.Asn623fs) rs2149877017
NM_014795.4(ZEB2):c.1870A>T (p.Lys624Ter)
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.1907dup (p.Leu636fs)
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
NM_014795.4(ZEB2):c.1944del (p.Ile649fs) rs786204803
NM_014795.4(ZEB2):c.194_195del (p.Val65fs) rs1573743951
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) rs786204818
NM_014795.4(ZEB2):c.198del (p.Asn67fs)
NM_014795.4(ZEB2):c.2024del (p.Leu675fs)
NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer) rs1553961598
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter) rs2149876873
NM_014795.4(ZEB2):c.2061del (p.Phe687fs) rs797046118
NM_014795.4(ZEB2):c.2064del (p.Lys689fs) rs2149876861
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter) rs1553961610
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) rs786204802
NM_014795.4(ZEB2):c.2122del (p.Leu708fs) rs2149876829
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.2242dup (p.His748fs)
NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) rs786204812
NM_014795.4(ZEB2):c.2288del (p.Pro763fs)
NM_014795.4(ZEB2):c.2303del (p.Asn768fs) rs1703267358
NM_014795.4(ZEB2):c.2337del (p.Ser780fs) rs1560606294
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs) rs1553964147
NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)
NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer) rs1560620837
NM_014795.4(ZEB2):c.2374dup (p.Ser792fs) rs2149876649
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) rs797046119
NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter) rs1703265228
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2476G>T (p.Glu826Ter)
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.2577dup (p.Leu860fs)
NM_014795.4(ZEB2):c.2592del (p.Phe864fs) rs2149876500
NM_014795.4(ZEB2):c.2630dup (p.Asn877fs)
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
NM_014795.4(ZEB2):c.2645dup (p.Val883fs)
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_014795.4(ZEB2):c.2682del (p.Leu894fs)
NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs) rs786204804
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs) rs1553961510
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) rs794727924
NM_014795.4(ZEB2):c.2717del (p.Pro906fs) rs2149876411
NM_014795.4(ZEB2):c.2718del (p.Ala907fs)
NM_014795.4(ZEB2):c.2745del (p.Ser916fs) rs2149876398
NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)
NM_014795.4(ZEB2):c.2757del (p.Leu920fs) rs1560605892
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2806del (p.Ala936fs) rs1553961487
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
NM_014795.4(ZEB2):c.2875C>T (p.Gln959Ter)
NM_014795.4(ZEB2):c.2886+1G>A rs1703257054
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter) rs1057518185
NM_014795.4(ZEB2):c.2915_2918dup (p.Met973fs)
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs) rs1703231612
NM_014795.4(ZEB2):c.2986_2987del (p.Ser996fs) rs1553961343
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer) rs1573713477
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3018dup (p.Thr1007fs)
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter) rs1560604977
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_014795.4(ZEB2):c.3067+2T>C
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3077_3084dup (p.Cys1029fs)
NM_014795.4(ZEB2):c.3094del (p.Cys1032fs) rs2149872716
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs)
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter) rs1553960793
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter) rs753880265
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)
NM_014795.4(ZEB2):c.3134del (p.His1045fs) rs2149872686
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) rs797046121
NM_014795.4(ZEB2):c.313del (p.Ala105fs) rs2149891139
NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter) rs2149872664
NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)
NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter)
NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr) rs1135401790
NM_014795.4(ZEB2):c.3171_3172del (p.Cys1057_Asp1058delinsTer)
NM_014795.4(ZEB2):c.3179G>C (p.Cys1060Ser)
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3198_3202del (p.His1066fs) rs2149872642
NM_014795.4(ZEB2):c.31del (p.Arg11fs) rs2149935159
NM_014795.4(ZEB2):c.3203del (p.Gly1068fs)
NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter) rs1553960778
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) rs2149872634
NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)
NM_014795.4(ZEB2):c.3221del (p.Met1074fs)
NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr) rs2149872616
NM_014795.4(ZEB2):c.331+1G>T rs1703742764
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) rs786204816
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter) rs1560618505
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.365del (p.Pro122fs)
NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs) rs1573722407
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter) rs1560609810
NM_014795.4(ZEB2):c.460del (p.Glu154fs) rs786204817
NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)
NM_014795.4(ZEB2):c.477_484del (p.His159fs)
NM_014795.4(ZEB2):c.481del (p.Val161fs) rs1553962198
NM_014795.4(ZEB2):c.484_486delinsGCCTCGCTAACCTCGCCTTACCCCCCACTATTAACCTACTGGGAGAACTCTCTGTGCTAGTAACCACGTTCTCCTGATCAAATATCACTCTCCTACTTACAGGACTCAACATACTAGTCACAGCCCT (p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer) rs2149879709
NM_014795.4(ZEB2):c.493G>T (p.Glu165Ter) rs1314954470
NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter) rs1560609721
NM_014795.4(ZEB2):c.540del (p.Glu181fs)
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs) rs587784568
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) rs587776608
NM_014795.4(ZEB2):c.585del (p.Glu196fs) rs1573722122
NM_014795.4(ZEB2):c.621dup (p.Ala208fs)
NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter) rs527679524
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)
NM_014795.4(ZEB2):c.656del (p.Gly219fs) rs1573721242
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) rs111724246
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.67A>T (p.Lys23Ter) rs1705170374
NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter) rs1060503990
NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter) rs1553962069
NM_014795.4(ZEB2):c.703del (p.Glu235fs) rs786204806
NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter) rs2149879206
NM_014795.4(ZEB2):c.715del (p.Glu239fs)
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.73+1G>A rs2149935109
NM_014795.4(ZEB2):c.73+1del rs786204813
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter) rs1703347173
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs) rs1573721065
NM_014795.4(ZEB2):c.776dup (p.His259fs) rs1703347063
NM_014795.4(ZEB2):c.791del (p.Lys264fs)
NM_014795.4(ZEB2):c.808-2A>G rs1560607925
NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)
NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs) rs2149877994
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.846del (p.Phe282fs)
NM_014795.4(ZEB2):c.857_858del (p.Glu286fs) rs1573718630
NM_014795.4(ZEB2):c.858del (p.Glu286fs)
NM_014795.4(ZEB2):c.874A>T (p.Lys292Ter) rs2149877963
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014795.4(ZEB2):c.901del (p.Leu301fs)
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.904del (p.Arg302fs)
NM_014795.4(ZEB2):c.916+5G>A rs1703305546
NM_014795.4(ZEB2):c.916+6T>G
NM_014795.4(ZEB2):c.917-1G>A
NM_014795.4(ZEB2):c.917-2A>G
NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter) rs2147123782
NM_014927.5(CNKSR2):c.1684C>T (p.Arg562Ter)
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) rs1569261319
NM_014927.5(CNKSR2):c.187C>T (p.Gln63Ter)
NM_014927.5(CNKSR2):c.1979G>A (p.Trp660Ter)
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) rs2092480172
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter) rs2147268813
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) rs904072058
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter) rs2147283343
NM_014927.5(CNKSR2):c.423G>A (p.Trp141Ter)
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) rs606231282
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs) rs2147143428
NM_014927.5(CNKSR2):c.573_576del (p.Ser192fs)
NM_015100.4(POGZ):c.1053del (p.Ser352fs)
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs) rs1057518170
NM_015100.4(POGZ):c.125-1G>T rs1571533545
NM_015100.4(POGZ):c.1264_1265del (p.Lys422fs)
NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer) rs869320763
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter) rs1557901051
NM_015100.4(POGZ):c.1606dup (p.Tyr536fs)
NM_015100.4(POGZ):c.1608C>A (p.Tyr536Ter) rs1553223544
NM_015100.4(POGZ):c.1673dup (p.Thr559fs)
NM_015100.4(POGZ):c.1679-1G>A
NM_015100.4(POGZ):c.1679-2A>G
NM_015100.4(POGZ):c.1725del (p.Leu576fs)
NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter) rs1135401798
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs) rs1553216467
NM_015100.4(POGZ):c.2002dup (p.Gln668fs)
NM_015100.4(POGZ):c.2022dup (p.Lys675Ter)
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter) rs1654081712
NM_015100.4(POGZ):c.2162C>G (p.Ser721Ter)
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2350C>T (p.Arg784Ter) rs886041669
NM_015100.4(POGZ):c.2433-2A>T rs1653770239
NM_015100.4(POGZ):c.2545+1G>T
NM_015100.4(POGZ):c.2570+1G>T rs2102152727
NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter) rs756659230
NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs) rs1553213060
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs) rs2102150015
NM_015100.4(POGZ):c.2709del (p.Pro903_Leu904insTer)
NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter) rs864321668
NM_015100.4(POGZ):c.2763del (p.Thr922fs)
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2768dup (p.His923fs) rs1653579916
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter)
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter) rs869312833
NM_015100.4(POGZ):c.3040C>T (p.Gln1014Ter) rs2102147153
NM_015100.4(POGZ):c.3098_3101del (p.Glu1033fs)
NM_015100.4(POGZ):c.3118G>A (p.Glu1040Lys) rs2102146729
NM_015100.4(POGZ):c.3121C>T (p.Gln1041Ter) rs1557865787
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3351dup (p.Pro1118fs) rs2102145228
NM_015100.4(POGZ):c.3354del (p.Leu1119fs) rs864321667
NM_015100.4(POGZ):c.3360dup (p.Met1121fs) rs1653455584
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter) rs869312834
NM_015100.4(POGZ):c.460-1G>A rs1571464589
NM_015100.4(POGZ):c.460-2A>C rs2102303238
NM_015100.4(POGZ):c.529C>T (p.Gln177Ter)
NM_015100.4(POGZ):c.600dup (p.Gly201fs)
NM_015100.4(POGZ):c.615_616del (p.Phe206fs)
NM_015100.4(POGZ):c.712C>T (p.Arg238Ter) rs1557910873
NM_015100.4(POGZ):c.78_80delinsC (p.Glu26fs)
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015100.4(POGZ):c.916C>T (p.Arg306Ter) rs1557909777
NM_015107.3(PHF8):c.1880del (p.Lys627fs) rs2065590491
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter) rs121918523
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter) rs121918522
NM_015107.3(PHF8):c.738dup (p.His247fs)
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser) rs121918524
NM_015107.3(PHF8):c.943_946+8del
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.1250dup (p.Thr418fs)
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1744del (p.Leu582fs)
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.215G>A (p.Trp72Ter)
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2636del (p.Pro879fs)
NM_015335.5(MED13L):c.278del (p.Asn93fs)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4108_4114+3del
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) rs1877535811
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) rs1877476585
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) rs2137216530
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter)
NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.864_865del (p.Gln289fs)
NM_015338.6(ASXL1):c.1109C>G (p.Ser370Ter)
NM_015338.6(ASXL1):c.1162_1163del (p.Val388fs) rs886043994
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs)
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) rs1600583334
NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs)
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs) rs777537805
NM_015338.6(ASXL1):c.1719+1G>A rs1311986203
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466
NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) rs2011649912
NM_015338.6(ASXL1):c.1867C>T (p.Gln623Ter) rs111316898
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) rs1600586587
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) rs1555901138
NM_015338.6(ASXL1):c.2197C>T (p.Gln733Ter) rs387907078
NM_015338.6(ASXL1):c.2302dup (p.Gln768fs)
NM_015338.6(ASXL1):c.2367_2368del (p.Cys789_Glu790delinsTer)
NM_015338.6(ASXL1):c.2407_2411del (p.Gln803fs) rs1600588199
NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) rs1600588239
NM_015338.6(ASXL1):c.2456del (p.Gly819fs)
NM_015338.6(ASXL1):c.2461dup (p.Asp821fs)
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs) rs750170870
NM_015338.6(ASXL1):c.2644C>T (p.Gln882Ter)
NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) rs2145372935
NM_015338.6(ASXL1):c.2773C>T (p.Gln925Ter) rs387907077
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)
NM_015338.6(ASXL1):c.2929C>T (p.Gln977Ter)
NM_015338.6(ASXL1):c.2982del (p.His995fs)
NM_015338.6(ASXL1):c.3083C>A (p.Ser1028Ter) rs200702600
NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter) rs764651405
NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) rs757040754
NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) rs1569337452
NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) rs1555912709
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) rs763386297
NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) rs1569339085
NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs)
NM_015338.6(ASXL1):c.472-2A>G
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) rs267607041
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038
NM_015570.4(AUTS2):c.1051C>T (p.Gln351Ter)
NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)
NM_015570.4(AUTS2):c.1298del (p.Leu433fs) rs1057518198
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter) rs1057517708
NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter) rs775225727
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
NM_015570.4(AUTS2):c.1534dup (p.Ala512fs) rs1789927813
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs) rs1585653028
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs) rs1585667374
NM_015570.4(AUTS2):c.1902+1G>A
NM_015570.4(AUTS2):c.1913del (p.Pro638fs) rs2129558877
NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs) rs2129559195
NM_015570.4(AUTS2):c.1A>T (p.Met1Leu) rs2129067294
NM_015570.4(AUTS2):c.2218del (p.His740fs)
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr) rs1792258600
NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs) rs1554401434
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)
NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs) rs2129540475
NM_015570.4(AUTS2):c.742+1G>A rs1554464807
NM_015570.4(AUTS2):c.742_742+3del
NM_015570.4(AUTS2):c.857_858del (p.Lys286fs) rs864321694
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter) rs1585645641
NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs) rs121909834
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del) rs121909833
NM_016023.5(OTUD6B):c.189_190del (p.His63fs) rs779499353
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) rs759317757
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs) rs1472577530
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter) rs772032719
NM_016023.5(OTUD6B):c.83-1del
NM_016023.5(OTUD6B):c.83-2A>G rs1064797102
NM_016032.4(ZDHHC9):c.167+5G>C rs606231183
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs) rs606231182
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
NM_016032.4(ZDHHC9):c.286C>T (p.Arg96Trp) rs1131690786
NM_016032.4(ZDHHC9):c.361C>T (p.Arg121Ter)
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp) rs137852214
NM_016032.4(ZDHHC9):c.448C>T (p.Pro150Ser) rs137852215
NM_016937.3(POLA1):c.445_507del rs1569277866
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
NM_017890.5(VPS13B):c.4168G>T (p.Glu1390Ter)
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs) rs2133626786
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys) rs2134735819
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr) rs2151827144
NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)
NM_019023.5(PRMT7):c.1173C>G (p.Tyr391Ter)
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs) rs1567721991
NM_019023.5(PRMT7):c.1276-1G>A rs886039897
NM_019023.5(PRMT7):c.1678del (p.Glu560fs)
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs) rs1567690011
NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)
NM_019023.5(PRMT7):c.622del (p.Gln208fs) rs2151732301
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter) rs2151436426
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) rs782191163
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) rs886039764
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) rs1555988417
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter) rs1557781252
NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg) rs1674357007
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)
NM_020699.4(GATAD2B):c.1419+1G>A rs1674353589
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter) rs1553187446
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter) rs1553187443
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.185del (p.Glu62fs) rs1570938014
NM_020699.4(GATAD2B):c.251_257del (p.Arg84fs)
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter) rs1674609315
NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs) rs1057518629
NM_020699.4(GATAD2B):c.466-1G>C
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro) rs1674576482
NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs) rs1131692165
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs) rs886037647
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter) rs1570929904
NM_020699.4(GATAD2B):c.646del (p.His216fs)
NM_020699.4(GATAD2B):c.653_654dup (p.Gln219fs)
NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter) rs1057520600
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs) rs1570929072
NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter) rs1057518674
NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter) rs1553188314
NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs) rs1131692164
NM_020699.4(GATAD2B):c.777_778del (p.Met259fs) rs2101880773
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter) rs1674512996
NM_020699.4(GATAD2B):c.918del (p.Pro307fs) rs1064793829
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter) rs1064794066
NM_020699.4(GATAD2B):c.981del (p.Thr328fs) rs797045594
NM_020922.5(WNK3):c.1089+1G>A
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
NM_020987.5(ANK3):c.10995del (p.Thr3666fs) rs879255535
NM_020987.5(ANK3):c.11033del (p.Pro3678fs) rs2082373823
NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter) rs1590691724
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn) rs186051700
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr) rs1603379772
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln) rs1603379318
NM_024528.4(NKAP):c.961A>G (p.Met321Val) rs2147845271
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys) rs1603379781
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln) rs1603379779
NM_024665.7(TBL1XR1):c.1047+1G>C
NM_024665.7(TBL1XR1):c.1071G>A (p.Trp357Ter) rs2108436501
NM_024665.7(TBL1XR1):c.1097C>T (p.Ser366Phe) rs2108436373
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn) rs1057517933
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met) rs973409423
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg) rs2108414262
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter) rs755371824
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn) rs2108407962
NM_024665.7(TBL1XR1):c.205-7A>G rs1717116134
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs) rs1577029136
NM_024665.7(TBL1XR1):c.377dup (p.Asn126fs)
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs) rs2108539881
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs) rs1716848997
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024665.7(TBL1XR1):c.987G>A (p.Met329Ile) rs1057524343
NM_030665.4(RAI1):c.-148-13952_-148-10583del
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs) rs1598088235
NM_030665.4(RAI1):c.1449del (p.Glu484fs)
NM_030665.4(RAI1):c.1785dup (p.Arg596fs)
NM_030665.4(RAI1):c.1810C>T (p.Gln604Ter)
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_030665.4(RAI1):c.2273G>A (p.Trp758Ter) rs527236033
NM_030665.4(RAI1):c.2329del (p.Asp777fs)
NM_030665.4(RAI1):c.2396dup (p.Gly800fs) rs2032191929
NM_030665.4(RAI1):c.2472dup (p.Leu825fs) rs1555565492
NM_030665.4(RAI1):c.253_271del (p.Leu85fs)
NM_030665.4(RAI1):c.2773_2801del (p.Val925fs)
NM_030665.4(RAI1):c.2809_2830delinsCACATGAAG (p.Lys937fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3179_3180del (p.Leu1060fs) rs2032234525
NM_030665.4(RAI1):c.3192_3195del (p.Glu1065fs) rs1598091391
NM_030665.4(RAI1):c.3251_3252del (p.Leu1084fs)
NM_030665.4(RAI1):c.3801del (p.Thr1268fs) rs1598092236
NM_030665.4(RAI1):c.4271del (p.Phe1424fs) rs2143002950
NM_030665.4(RAI1):c.4317dup (p.Thr1440fs)
NM_030665.4(RAI1):c.4525del (p.Gln1509fs) rs2143003068
NM_030665.4(RAI1):c.4673dup (p.Arg1559fs) rs1555566042
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter) rs750728463
NM_030665.4(RAI1):c.4685A>G (p.Gln1562Arg) rs104894634
NM_030665.4(RAI1):c.4814del (p.Asp1605fs) rs1598093659
NM_030665.4(RAI1):c.5265del (p.Arg1756fs)
NM_030665.4(RAI1):c.5423G>A (p.Ser1808Asn) rs104894633
NM_030665.4(RAI1):c.5626dup (p.His1876fs)
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp) rs1057518699
NM_031206.7(LAS1L):c.806C>G (p.Ala269Gly) rs1173514495
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12091T>C (p.Tyr4031His)
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln) rs1569399945
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.567+1G>C rs1557024919
NM_031407.7(HUWE1):c.646-1G>A rs2149065229
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) rs121918526
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_052988.4:c.(87+1_88-1)_(232+1_233-1)del
NM_052988.5(CDK10):c.139del (p.Glu47fs) rs1555516716
NM_052988.5(CDK10):c.161-1G>C
NM_052988.5(CDK10):c.226A>T (p.Lys76Ter)
NM_052988.5(CDK10):c.24C>A (p.Cys8Ter)
NM_052988.5(CDK10):c.452T>C (p.Leu151Pro)
NM_052988.5(CDK10):c.461T>C (p.Leu154Pro)
NM_052988.5(CDK10):c.503del (p.Asn168fs)
NM_052988.5(CDK10):c.608+1G>A rs771066826
NM_052988.5(CDK10):c.625CTG[1] (p.Leu211del)
NM_052988.5(CDK10):c.716_728del (p.Leu239fs)
NM_052988.5(CDK10):c.792G>A (p.Pro264=)
NM_052988.5(CDK10):c.87+5G>A
NM_052988.5(CDK10):c.88-870_232+368del
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs) rs2147783395
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.1351del (p.Arg451fs) rs1556377028
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter) rs2147787331
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs) rs794727881
NM_080632.3(UPF3B):c.684_685del (p.Glu230fs) rs2147787295
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs) rs1064794254
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs) rs1603370185
NM_138576.4(BCL11B):c.1216_1219dup (p.Pro407fs)
NM_138576.4(BCL11B):c.1272_1278del (p.Lys425fs) rs2139759372
NM_138576.4(BCL11B):c.1495G>T (p.Glu499Ter) rs1555376234
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs) rs1595215462
NM_138576.4(BCL11B):c.1662_1668del (p.Ser555fs) rs2139757401
NM_138576.4(BCL11B):c.1770_1771del (p.Lys591fs) rs1886445034
NM_138576.4(BCL11B):c.1852C>T (p.Gln618Ter)
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs) rs1886427331
NM_138576.4(BCL11B):c.2048del (p.Ser683fs) rs1595214071
NM_138576.4(BCL11B):c.211del (p.Leu71fs) rs2139953911
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs) rs2139753299
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138576.4(BCL11B):c.242del (p.Cys81fs) rs1555384300
NM_138576.4(BCL11B):c.2435_2436insAA (p.Val813fs) rs1886396455
NM_138576.4(BCL11B):c.2443del (p.Arg815fs)
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs) rs2139753037
NM_138576.4(BCL11B):c.2449_2456dup (p.Gly820fs) rs1555376035
NM_138576.4(BCL11B):c.2605del (p.Leu869fs)
NM_138576.4(BCL11B):c.2671del (p.Ala891fs) rs1555376017
NM_138576.4(BCL11B):c.427+1G>A rs2139953103
NM_138576.4(BCL11B):c.682C>T (p.Gln228Ter) rs1886522103
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.26dup (p.Cys10fs) rs2147325489
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs) rs2130902516
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs) rs386834054
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs) rs1057516324
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter) rs1816395005
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter) rs1014479884
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs) rs875989882
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs) rs1554581267
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
NM_152564.5(VPS13B):c.10281del (p.Gln3428fs)
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
NM_152564.5(VPS13B):c.10327del (p.Val3443fs) rs1816408985
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs) rs180177371
NM_152564.5(VPS13B):c.10401del (p.Glu3468fs)
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs) rs1816414644
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter) rs2132516120
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs) rs1554581504
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter) rs1847921335
NM_152564.5(VPS13B):c.10498G>T (p.Glu3500Ter)
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs) rs1816422602
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter) rs2130918298
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter) rs1057520769
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter) rs120074154
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
NM_152564.5(VPS13B):c.10936del (p.Val3646fs) rs2130933596
NM_152564.5(VPS13B):c.10964_10979del (p.Glu3655fs)
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs) rs1816713664
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs) rs2130933734
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
NM_152564.5(VPS13B):c.11044+1G>A
NM_152564.5(VPS13B):c.11044+2T>C rs587777382
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs) rs2130941591
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter) rs2130941863
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter) rs386834060
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
NM_152564.5(VPS13B):c.11216-2A>G rs867112705
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs) rs1347701279
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs) rs2130962934
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs) rs1057516245
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs) rs1554586953
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter) rs2130972411
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs) rs1588810695
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs) rs386834062
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs) rs2130972502
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs) rs2130972632
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs) rs386834064
NM_152564.5(VPS13B):c.11496-2A>G rs1554588353
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter) rs1554625838
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs) rs386834066
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs) rs2130975687
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter)
NM_152564.5(VPS13B):c.11655del (p.Val3886fs) rs1212294259
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs) rs1161589003
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs) rs2130976122
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs) rs2130976129
NM_152564.5(VPS13B):c.11768_11771dup (p.Glu3925fs)
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs) rs755827237
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs) rs1263684271
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs) rs1371736348
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs) rs1371736348
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs) rs180177374
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter) rs773094891
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs) rs1817657601
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs) rs1057517328
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer) rs1554590486
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter) rs1809977682
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
NM_152564.5(VPS13B):c.1297del (p.Val433fs)
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer) rs1408744761
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
NM_152564.5(VPS13B):c.1366del (p.Cys456fs) rs2132555225
NM_152564.5(VPS13B):c.1378del (p.Ile460fs) rs1810006084
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
NM_152564.5(VPS13B):c.142del (p.Glu48fs)
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter) rs2132125704
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
NM_152564.5(VPS13B):c.1482del (p.Thr495fs) rs2132556658
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
NM_152564.5(VPS13B):c.1527del (p.Arg510fs) rs2132556766
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
NM_152564.5(VPS13B):c.1604del (p.Ala535fs) rs1810088202
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs) rs1057517177
NM_152564.5(VPS13B):c.1666C>T (p.Gln556Ter)
NM_152564.5(VPS13B):c.1732del (p.Val578fs) rs2132581182
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs) rs1810518393
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter) rs2132581276
NM_152564.5(VPS13B):c.1762del (p.Ser588fs) rs2132581325
NM_152564.5(VPS13B):c.1766_1775del (p.Ser589fs)
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
NM_152564.5(VPS13B):c.1950C>A (p.Cys650Ter) rs1810830776
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.2047del (p.Gln683fs) rs386834074
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs) rs1811379645
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs) rs2132663525
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter) rs2132727940
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs) rs1813682416
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter) rs1554666009
NM_152564.5(VPS13B):c.2381del (p.Pro794fs) rs2132728101
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs) rs2132728144
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter) rs869312923
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter) rs2132728269
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs)
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs) rs2132728587
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs) rs1818768251
NM_152564.5(VPS13B):c.2536del (p.Leu846fs) rs1818768394
NM_152564.5(VPS13B):c.2557del (p.Ile853fs)
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter) rs2132994876
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter) rs199868590
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.2640dup (p.Lys881fs)
NM_152564.5(VPS13B):c.2651-1G>A rs386834077
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
NM_152564.5(VPS13B):c.2743A>T (p.Lys915Ter)
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
NM_152564.5(VPS13B):c.2778del (p.Phe927fs) rs1818830393
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter) rs775378782
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter) rs2133295344
NM_152564.5(VPS13B):c.292-1G>A rs1057520768
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs) rs2133312597
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter) rs2133312718
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs) rs2133312827
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter) rs2133412405
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs) rs2133412472
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
NM_152564.5(VPS13B):c.3344_3354del (p.Val1115fs)
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.3369dup (p.Ile1124fs)
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
NM_152564.5(VPS13B):c.3446-23T>G rs2133510569
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter) rs2133510708
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs) rs2133510772
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter) rs2133511511
NM_152564.5(VPS13B):c.3666+2T>C rs386834082
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs) rs1820043726
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs) rs753645306
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs) rs2133609624
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs) rs1057516653
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter) rs2133609831
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs) rs1821315647
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.413-2A>G rs2132453775
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs) rs1057517076
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs) rs386834084
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
NM_152564.5(VPS13B):c.4341_4342insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATGAGCGAAGA (p.Ser1448delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs) rs2133637853
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs) rs1554826566
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.4618C>T (p.Gln1540Ter)
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs) rs386834090
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) rs1588038825
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter) rs1822355402
NM_152564.5(VPS13B):c.4745+1G>C
NM_152564.5(VPS13B):c.4745+2T>C rs386834091
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter) rs752429062
NM_152564.5(VPS13B):c.478_481del (p.Leu160fs)
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter) rs2133764725
NM_152564.5(VPS13B):c.4812del (p.Ile1604fs)
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
NM_152564.5(VPS13B):c.483del (p.Lys161fs) rs2132453991
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter) rs180177360
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs) rs1588491595
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
NM_152564.5(VPS13B):c.4949+2T>G
NM_152564.5(VPS13B):c.4959del (p.His1654fs) rs1166814614
NM_152564.5(VPS13B):c.4989dup (p.Val1664fs)
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs) rs2133808512
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs) rs1563806122
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs) rs1554853667
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer) rs1434257397
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs) rs1588579347
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs) rs180177363
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs) rs1829386577
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter) rs1227284058
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs) rs1176397159
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs) rs386834095
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs) rs386834096
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
NM_152564.5(VPS13B):c.572del (p.Asp191fs) rs1588038976
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs) rs2133932364
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs) rs2133932487
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs) rs755125969
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs) rs2129763497
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) rs2129763561
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter) rs1554892040
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs) rs2130179621
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs) rs2130179734
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs) rs1588635717
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
NM_152564.5(VPS13B):c.6198_6202dup (p.Asp2068fs)
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs) rs2130180236
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs) rs1554911731
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg) rs2130180694
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter) rs2130181003
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter) rs1057516489
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter) rs1057516287
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter) rs2130181483
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
NM_152564.5(VPS13B):c.6447del (p.Val2150fs) rs2130181658
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter) rs1057516494
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg) rs120074149
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs) rs1057517318
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.6610C>T (p.Gln2204Ter)
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs) rs2130317561
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter) rs2132481787
NM_152564.5(VPS13B):c.6657+1G>T rs180177366
NM_152564.5(VPS13B):c.6657+2T>C rs1832966881
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs) rs1833089251
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
NM_152564.5(VPS13B):c.7004_7005del (p.Thr2335fs)
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs) rs1833108141
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter) rs767858119
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs) rs1554948192
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs) rs2130621458
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs) rs1811255718
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs) rs886041184
NM_152564.5(VPS13B):c.7247+2T>C rs1563908020
NM_152564.5(VPS13B):c.726T>G (p.Tyr242Ter)
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs) rs1554952465
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs) rs1811766430
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter) rs980463746
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter) rs2130678821
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter) rs1811869155
NM_152564.5(VPS13B):c.763-2118G>T
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter) rs2130679206
NM_152564.5(VPS13B):c.7657_7672del (p.Met2552_Ala2553insTer)
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs) rs2130679794
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs) rs2130680017
NM_152564.5(VPS13B):c.7809del (p.Phe2604fs)
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs) rs1812158350
NM_152564.5(VPS13B):c.7840C>T (p.Gln2614Ter)
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp) rs120074153
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter) rs2130785617
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs) rs1554622608
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter) rs1813585665
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs) rs2130810644
NM_152564.5(VPS13B):c.816dup (p.Met273fs) rs1554622647
NM_152564.5(VPS13B):c.8172C>G (p.Tyr2724Ter)
NM_152564.5(VPS13B):c.817_818del (p.Met273fs) rs2132497770
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter) rs2130810847
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs) rs1554565645
NM_152564.5(VPS13B):c.8309C>A (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter) rs1379711249
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter) rs1057516484
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs) rs1588743576
NM_152564.5(VPS13B):c.8430del (p.Val2811fs) rs2130813174
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter) rs2130813187
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs) rs2130813849
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs) rs2130813916
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs) rs2130813918
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer) rs2130813950
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs) rs765302278
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter) rs1256482530
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter) rs2130814064
NM_152564.5(VPS13B):c.8622-2A>G rs386834115
NM_152564.5(VPS13B):c.8622-9A>G rs386834116
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer) rs2132497933
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter) rs2130816341
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs) rs2130817575
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter) rs2130817608
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter) rs727504219
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter) rs797046098
NM_152564.5(VPS13B):c.896del (p.Asp299fs) rs2132498049
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs) rs1057516538
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs) rs1057516789
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9226C>T (p.Gln3076Ter)
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs) rs773945333
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_152564.5(VPS13B):c.9331-1G>C rs386834119
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
NM_152564.5(VPS13B):c.9331-2A>G rs74485751
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter) rs1563497733
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter) rs1563497844
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter) rs753770252
NM_152564.5(VPS13B):c.9515C>G (p.Ser3172Ter)
NM_152564.5(VPS13B):c.9517del (p.Gln3173fs)
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter) rs2130858310
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs) rs2130858335
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs) rs1554574028
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs) rs2130858386
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
NM_152564.5(VPS13B):c.9615-1G>A rs2130865334
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter) rs1563499381
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter) rs941969577
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs) rs774357106
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs) rs2130866580
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs) rs2130866708
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter) rs2130866735
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer) rs1301330402
NM_152564.5(VPS13B):c.9943-1G>A
NM_152564.5(VPS13B):c.9943-2A>G rs1816111137
NM_152564.5(VPS13B):c.9967dup (p.Tyr3323fs)
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_198880.3(QRICH1):c.1147_1150del (p.Leu383fs) rs1376687924
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs) rs1376687924
NM_198880.3(QRICH1):c.1258C>T (p.Gln420Ter) rs2106903534
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs) rs2106903309
NM_198880.3(QRICH1):c.1346_1351delinsGT (p.Thr449fs)
NM_198880.3(QRICH1):c.136del (p.Gln46fs) rs2106983258
NM_198880.3(QRICH1):c.1378C>T (p.Gln460Ter) rs1559931177
NM_198880.3(QRICH1):c.138_139delinsTT (p.Gln46_Gln47delinsHisTer) rs1553747119
NM_198880.3(QRICH1):c.1531C>T (p.Arg511Ter) rs746059690
NM_198880.3(QRICH1):c.1585dup (p.Cys529fs) rs2106863220
NM_198880.3(QRICH1):c.1606C>T (p.Arg536Ter) rs1559930732
NM_198880.3(QRICH1):c.1626del (p.Tyr543fs) rs2106863052
NM_198880.3(QRICH1):c.1787-2A>G rs2106814058
NM_198880.3(QRICH1):c.1812_1813del (p.Glu605fs) rs2093252843
NM_198880.3(QRICH1):c.1896-2A>G rs2106812365
NM_198880.3(QRICH1):c.1953dup (p.Arg652fs) rs1553738605
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter) rs1236702036
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter) rs2106802170
NM_198880.3(QRICH1):c.418del (p.Gln140fs) rs2106907255
NM_198880.3(QRICH1):c.46C>T (p.Arg16Ter) rs763953500
NM_198880.3(QRICH1):c.541C>T (p.Gln181Ter) rs2106906600
NM_198880.3(QRICH1):c.64dup (p.Val22fs) rs1575373920
NM_198880.3(QRICH1):c.823C>T (p.Gln275Ter) rs2106905360
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs) rs2093408575
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
NM_198880.3(QRICH1):c.949dup (p.Gln317fs)
NM_198880.3(QRICH1):c.985del (p.His329fs) rs2106904799
NM_203475.3(PORCN):c.1023+2T>A rs1556975151
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs) rs587776737
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln) rs2061714949
NM_203475.3(PORCN):c.137-1G>C
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg) rs267606973
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter) rs137852219
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) rs1602070472
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter) rs137852218
NM_203475.3(PORCN):c.374-2A>G rs2147123496
NM_203475.3(PORCN):c.49_80del (p.Cys17fs) rs2061661681
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
NM_203475.3(PORCN):c.532C>T (p.Gln178Ter)
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter) rs2061661896
NM_203475.3(PORCN):c.846-2A>G
NM_203475.3(PORCN):c.946+2_946+3del rs2147131642
R496C
RPS6KA3, 187-BP DEL, NT406
Single allele
THOC2, 2.4-KB DEL, EX37-38DEL
chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del
t(X;3)(q13.3;q11.2)dn

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