AutismKB 2.0

View de novo Variants from PubMed ID: 25363768


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

Gene ID Gene Symbol Chr Position Effect Ref Alt Coding Change Protein Change Validation iFish Probability iFish Prediction
AutG339451KLHL17 1 897349 synonymous G A PCR or Sanger sequencing
AutG6339SCNN1D 1 1222518 nonsense C A PCR or Sanger sequencing
AutG6339SCNN1D 1 1225729 missense G A PCR or Sanger sequencing 0.0824 neutral
AutG473RERE 1 8421838 missense C A PCR or Sanger sequencing 0.1686 neutral
AutG199953TMEM201 1 9673136 missense C T PCR or Sanger sequencing 0.5113 deleterious
AutG10277UBE4B 1 10166514 missense G A PCR or Sanger sequencing 0.1772 neutral
AutG6723SRM 1 11115912 missense C G PCR or Sanger sequencing 0.9877 deleterious
AutG23013SPEN 1 16261227 missense G C PCR or Sanger sequencing 0.1728 neutral
AutG9696CROCC 1 17263235 missense G A PCR or Sanger sequencing 0.2238 neutral
AutG55160ARHGEF10L 1 17964465 synonymous G A PCR or Sanger sequencing
AutG23352UBR4 1 19453084 synonymous G A PCR or Sanger sequencing
AutG23352UBR4 1 19481533 missense C T PCR or Sanger sequencing 0.4875 neutral
AutG23352UBR4 1 19528292 missense T G PCR or Sanger sequencing 0.4875 neutral
AutG255104TMCO4 1 20009872 synonymous G C PCR or Sanger sequencing
AutG3339HSPG2 1 22181274 intron GGGTCA G strong
AutG2517FUCA1 1 24189638 synonymous G A PCR or Sanger sequencing
AutG57190SEPN1 1 26135190 missense G T PCR or Sanger sequencing
AutG2134EXTL1 1 26360172 intron T G strong
AutG6195RPS6KA1 1 26885393 missense C T PCR or Sanger sequencing 0.5125 deleterious
AutG2810SFN 1 27190426 synonymous G A PCR or Sanger sequencing
AutG27245AHDC1 1 27877086 missense G A PCR or Sanger sequencing 0.94 deleterious
AutG10076PTPRU 1 29587385 missense C A PCR or Sanger sequencing 0.9639 deleterious
AutG9672SDC3 1 31349764 missense T C PCR or Sanger sequencing 0.0208 neutral
AutG55721IQCC 1 32672714 missense G A PCR or Sanger sequencing 0.8278 deleterious
AutG9967THRAP3 1 36759462 missense A G PCR or Sanger sequencing 0.7166 deleterious
AutG284656EPHA10 1 38197144 synonymous C T PCR or Sanger sequencing
AutG5453POU3F1 1 38511611 synonymous G A PCR or Sanger sequencing
AutG23499MACF1 1 39789893 missense A G PCR or Sanger sequencing 0.0853 neutral
AutG64744SMAP2 1 40875459 nonsense T A PCR or Sanger sequencing
AutG5792PTPRF 1 44056693 missense A C PCR or Sanger sequencing 0.998 deleterious
AutG6491STIL 1 47746815 missense T C PCR or Sanger sequencing 0.0256 neutral
AutG23648SSBP3 1 54694107 intron C T strong
AutG255738PCSK9 1 55512213 synonymous T C PCR or Sanger sequencing
AutG4070TACSTD2 1 59041944 synonymous C G PCR or Sanger sequencing
AutG85440DOCK7 1 62959980 missense C T PCR or Sanger sequencing 0.1859 neutral
AutG9829DNAJC6 1 65858181 synonymous A G PCR or Sanger sequencing
AutG26135SERBP1 1 67878948 splice-site T G PCR or Sanger sequencing
AutG10964IFI44L 1 79093807 nonsense T A PCR or Sanger sequencing
AutG10964IFI44L 1 79102731 synonymous A G PCR or Sanger sequencing
AutG64123ELTD1 1 79392717 missense C T PCR or Sanger sequencing
AutG22823MTF2 1 93580638 missense C T PCR or Sanger sequencing 0.1495 neutral
AutG54874FNBP1L 1 94009717 missense A C PCR or Sanger sequencing 0.4969 deleterious
AutG58155PTBP2 1 97189108 intron T TTA strong
LAMTOR5 1 110944184 synonymous G A PCR or Sanger sequencing
AutG3752KCND3 1 112525092 missense C G PCR or Sanger sequencing 0.9995 deleterious
AutG3752KCND3 1 112525095 missense T A PCR or Sanger sequencing 0.9999 deleterious
AutG4343MOV10 1 113242329 missense A G PCR or Sanger sequencing 0.8942 deleterious
MAB21L3 1 116675758 synonymous G A PCR or Sanger sequencing
AutG5738PTGFRN 1 117527332 missense C T PCR or Sanger sequencing 0.7667 deleterious
AutG9900SV2A 1 149881028 missense C G PCR or Sanger sequencing 0.6833 deleterious
AutG1893ECM1 1 150484919 missense G A PCR or Sanger sequencing 0.7073 deleterious
AutG54507ADAMTSL4 1 150529511 missense C T PCR or Sanger sequencing 0.0581 neutral
AutG149428BNIPL 1 151015830 synonymous T C PCR or Sanger sequencing
AutG8991SELENBP1 1 151337466 missense G A PCR or Sanger sequencing 0.07 neutral
AutG23126POGZ 1 151384237 missense T C PCR or Sanger sequencing 0.5482 deleterious
CHTOP 1 153617559 synonymous G A PCR or Sanger sequencing
AutG3608ILF2 1 153637720 nonsense G A PCR or Sanger sequencing
AutG57198ATP8B2 1 154321590 missense G A PCR or Sanger sequencing 0.1251 neutral
AutG126668TDRD10 1 154493911 missense C T PCR or Sanger sequencing 0.1705 neutral
AutG55870ASH1L 1 155340680 nonsense C A PCR or Sanger sequencing
AutG4209MEF2D 1 156446863 missense G A PCR or Sanger sequencing 0.9783 deleterious
AutG128239IQGAP3 1 156536205 missense C T PCR or Sanger sequencing 0.7899 deleterious
AutG3645INSRR 1 156813260 frame-shift AG A PCR or Sanger sequencing
AutG375033PEAR1 1 156883034 missense C T PCR or Sanger sequencing 0.7847 deleterious
AutG55243KIRREL 1 158045967 synonymous G A PCR or Sanger sequencing
AutG6708SPTA1 1 158585162 missense C T PCR or Sanger sequencing 0.4875 neutral
AutG441911OR10J3 1 159283723 missense C T PCR or Sanger sequencing 0.0017 neutral
AutG325APCS 1 159557753 synonymous C T PCR or Sanger sequencing
AutG480ATP1A4 1 160125943 missense C T PCR or Sanger sequencing 0.8545 deleterious
AutG257106ARHGAP30 1 161017762 nonsense G A PCR or Sanger sequencing
SLC9C2 1 173490530 synonymous G A PCR or Sanger sequencing
AutG64326RFWD2 1 175958552 missense T C PCR or Sanger sequencing 0.8448 deleterious
AutG9917FAM20B 1 179013336 synonymous G A PCR or Sanger sequencing
AutG6646SOAT1 1 179311252 missense C A PCR or Sanger sequencing 0.7801 deleterious
AutG777CACNA1E 1 181767871 synonymous G A PCR or Sanger sequencing
AutG3915LAMC1 1 183086530 missense T C PCR or Sanger sequencing 0.5407 deleterious
AutG3918LAMC2 1 183184672 missense C T PCR or Sanger sequencing 0.1275 neutral
AutG9887SMG7 1 183502868 missense C T PCR or Sanger sequencing 0.0488 neutral
AutG343450KCNT2 1 196397281 missense A G PCR or Sanger sequencing 0.9613 deleterious
CAMSAP2 1 200811145 synonymous G A PCR or Sanger sequencing
AutG23046KIF21B 1 200971340 missense G A PCR or Sanger sequencing 0.1133 neutral
AutG5778PTPN7 1 202119524 missense T C PCR or Sanger sequencing 0.9479 deleterious
AutG10765KDM5B 1 202710688 missense G A PCR or Sanger sequencing 0.1486 neutral
AutG10765KDM5B 1 202711784 frame-shift T TA PCR or Sanger sequencing
AutG10765KDM5B 1 202746219 missense A G PCR or Sanger sequencing 0.9914 deleterious
AutG5549PRELP 1 203452982 missense A G PCR or Sanger sequencing 0.6648 deleterious
AutG9877ZC3H11A 1 203816493 missense G T PCR or Sanger sequencing 0.9745 deleterious
AutG5208PFKFB2 1 207237157 frame-shift AT A PCR or Sanger sequencing
AutG1378CR1 1 207793410 missense C T PCR or Sanger sequencing 0.6101 deleterious
DIEXF 1 210014329 synonymous C T PCR or Sanger sequencing
AutG2058EPRS 1 220170538 no-frame-shift ATCT A PCR or Sanger sequencing
AutG79802HHIPL2 1 222697001 missense A G PCR or Sanger sequencing 0.0933 neutral
AutG84976DISP1 1 223176218 synonymous C T PCR or Sanger sequencing
AutG84976DISP1 1 223177742 synonymous G A PCR or Sanger sequencing
AutG388743CAPN8 1 223853218 frame-shift AC A PCR or Sanger sequencing
AutG84033OBSCN 1 228509724 missense G A PCR or Sanger sequencing 0.1092 neutral
AutG55746NUP133 1 229602434 missense T C PCR or Sanger sequencing 0.0218 neutral
AutG114548NLRP3 1 247582253 missense G A PCR or Sanger sequencing 0.0066 neutral
AutG127069OR2T10 1 248756275 nonsense G T PCR or Sanger sequencing
AutG55657ZNF692 1 249149951 missense G A PCR or Sanger sequencing 0.011 neutral
AutG9014TAF1B 2 10015988 intron C T strong
AutG79677SMC6 2 17877683 missense T G PCR or Sanger sequencing 0.2349 deleterious
AutG50618ITSN2 2 24469704 missense C T PCR or Sanger sequencing 0.6094 deleterious
AutG22979EFR3B 2 25354705 missense G T PCR or Sanger sequencing 0.0162 neutral
AutG1788DNMT3A 2 25457176 missense G A strong 0.8708 deleterious
AutG3030HADHA 2 26432717 missense C A PCR or Sanger sequencing 0.8071 deleterious
AutG54867TMEM214 2 27258861 missense A G strong 0.0334 neutral
AutG790CAD 2 27455388 synonymous T G PCR or Sanger sequencing
AutG6683SPAST 2 32314636 missense C G PCR or Sanger sequencing 0.9977 deleterious
AutG58484NLRC4 2 32475483 missense T C PCR or Sanger sequencing 0.7999 deleterious
AutG55622TTC27 2 32983503 missense A G PCR or Sanger sequencing 0.3466 neutral
AutG6801STRN 2 37121152 missense C T PCR or Sanger sequencing 0.6773 deleterious
AutG5610EIF2AK2 2 37364142 nonsense G A PCR or Sanger sequencing
AutG2034EPAS1 2 46603670 intron C T strong
AutG80204FBXO11 2 48035295 frame-shift CAG C PCR or Sanger sequencing
AutG23198PSME4 2 54135923 missense A C PCR or Sanger sequencing 0.6628 deleterious
AutG6711SPTBN1 2 54858514 missense G C PCR or Sanger sequencing 0.3097 neutral
AutG57142RTN4 2 55253033 synonymous T C PCR or Sanger sequencing
CLHC1 2 55436920 missense T G PCR or Sanger sequencing 0.021 neutral
AutG57223SMEK2 2 55826186 intron C G strong
AutG7360UGP2 2 64113658 missense A G PCR or Sanger sequencing 0.6709 deleterious
AutG57162PELI1 2 64322284 missense G A PCR or Sanger sequencing 0.6384 deleterious
AutG9792SERTAD2 2 64863430 synonymous C T PCR or Sanger sequencing
AutG84908FAM136A 2 70529121 missense C A PCR or Sanger sequencing 0.8417 deleterious
AutG10617STAMBP 2 74072000 frame-shift GAA G PCR or Sanger sequencing
AutG1768DNAH6 2 84846793 intron A G strong
AutG150572SMYD1 2 88409886 missense A G PCR or Sanger sequencing 0.6759 deleterious
AutG64969MRPS5 2 95774145 missense C T weak 0.4448 neutral
AutG23020SNRNP200 2 96953160 intron G A strong
AutG23397NCAPH 2 97020087 missense T G PCR or Sanger sequencing 0.0918 neutral
AutG90342FER1L5 2 97368053 nonsense C T PCR or Sanger sequencing
AutG200539ANKRD23 2 97508084 intron C T strong
AutG10018BCL2L11 2 111881511 synonymous G A PCR or Sanger sequencing
AutG10461MERTK 2 112725700 intron T G strong
AutG2736GLI2 2 121742110 nonsense A T PCR or Sanger sequencing
AutG274BIN1 2 127818230 intron C T strong
AutG339761CYP27C1 2 127944869 frame-shift AC A PCR or Sanger sequencing
AutG4648MYO7B 2 128322961 splice-site G A PCR or Sanger sequencing
AutG4648MYO7B 2 128366324 synonymous C T PCR or Sanger sequencing
AutG4648MYO7B 2 128384626 missense C T PCR or Sanger sequencing 0.916 deleterious
AutG55339WDR33 2 128481973 frame-shift AT A PCR or Sanger sequencing
AutG130074FAM168B 2 131810589 splice-site C G PCR or Sanger sequencing
AutG113457TUBA3D 2 132238286 synonymous C T strong
AutG905CCNT2 2 135676549 missense A G PCR or Sanger sequencing 0.4641 neutral
AutG84083ZRANB3 2 135982012 missense A G PCR or Sanger sequencing 0.0374 neutral
AutG84083ZRANB3 2 136072939 missense G A PCR or Sanger sequencing 0.0021 neutral
AutG55777MBD5 2 149227283 missense C G PCR or Sanger sequencing 0.9221 deleterious
AutG4703NEB 2 152403966 missense A G PCR or Sanger sequencing 0.2845 neutral
AutG4703NEB 2 152548841 synonymous T A PCR or Sanger sequencing
AutG9595CYTIP 2 158272559 missense C T strong 0.1014 neutral
AutG29994BAZ2B 2 160182250 frame-shift G GT PCR or Sanger sequencing
AutG29994BAZ2B 2 160231217 missense A C PCR or Sanger sequencing 0.0802 neutral
AutG29994BAZ2B 2 160289731 synonymous G A PCR or Sanger sequencing
AutG6328SCN3A 2 165950891 missense C T PCR or Sanger sequencing 0.8897 deleterious
AutG6326SCN2A 2 166152367 missense G A PCR or Sanger sequencing 0.6774 deleterious
AutG80034CSRNP3 2 166514338 synonymous G A PCR or Sanger sequencing
AutG6335SCN9A 2 167145151 synonymous C T PCR or Sanger sequencing
AutG4036LRP2 2 170062840 missense C T PCR or Sanger sequencing 0.4138 neutral
AutG129880BBS5 2 170336053 5'UTR C T strong
AutG130507UBR3 2 170732428 synonymous A C PCR or Sanger sequencing
AutG130507UBR3 2 170885884 synonymous C T PCR or Sanger sequencing
AutG6670SP3 2 174820528 missense C T PCR or Sanger sequencing 0.4244 neutral
AutG3231HOXD1 2 177054587 frame-shift A AT PCR or Sanger sequencing
AutG7273TTN 2 179425280 missense C T PCR or Sanger sequencing 0.6359 deleterious
AutG7273TTN 2 179486354 missense C G PCR or Sanger sequencing 0.4944 deleterious
AutG51602NOP58 2 203162254 intron C T strong
AutG57683ZDBF2 2 207171918 missense T C PCR or Sanger sequencing 0.0019 neutral
AutG200576PIKFYVE 2 209217389 synonymous G A strong
AutG2066ERBB4 2 212522487 synonymous T C PCR or Sanger sequencing
AutG22807IKZF2 2 213886838 missense C G PCR or Sanger sequencing 0.5393 deleterious
AutG471ATIC 2 216211489 missense G A PCR or Sanger sequencing 0.9995 deleterious
AutG6168RPL37A 2 217363534 5'UTR G T strong
AutG7145TNS1 2 218683269 synonymous C T PCR or Sanger sequencing
AutG7145TNS1 2 218713428 synonymous G A PCR or Sanger sequencing
AutG64320RNF25 2 219529550 missense C T PCR or Sanger sequencing 0.2001 neutral
AutG79137FAM134A 2 220045455 missense A T PCR or Sanger sequencing 0.9173 deleterious
AutG10058ABCB6 2 220080755 missense G A PCR or Sanger sequencing 0.4453 neutral
AutG55139ANKZF1 2 220100806 synonymous C T PCR or Sanger sequencing
AutG10290SPEG 2 220341659 synonymous G T PCR or Sanger sequencing
AutG1286COL4A4 2 227872302 synonymous G A PCR or Sanger sequencing
AutG26058GIGYF2 2 233675982 nonsense C T PCR or Sanger sequencing
AutG54657UGT1A4 2 234628270 synonymous G A strong
AutG54657UGT1A4 2 234628270 synonymous G A strong
AutG54657UGT1A4 2 234628270 synonymous G A strong
UGT1A10 2 234676519 nonsense C T PCR or Sanger sequencing
AutG1293COL6A3 2 238303503 missense T C PCR or Sanger sequencing 0.6046 deleterious
AutG9208LRRFIP1 2 238617225 synonymous G A PCR or Sanger sequencing
AutG9208LRRFIP1 2 238617256 frame-shift G GA PCR or Sanger sequencing
AutG8864PER2 2 239161576 nonsense G A PCR or Sanger sequencing
AutG547KIF1A 2 241658532 missense C T PCR or Sanger sequencing 0.9612 deleterious
AutG5133PDCD1 2 242795110 missense G T PCR or Sanger sequencing 0.0014 neutral
AutG27255CNTN6 3 1371543 missense G A PCR or Sanger sequencing 0.2679 neutral
AutG64419MTMR14 3 9730364 intron C T strong
AutG23225NUP210 3 13413397 missense C T PCR or Sanger sequencing 0.3384 neutral
AutG84077C3orf20 3 14768527 synonymous C T PCR or Sanger sequencing
AutG131096KCNH8 3 19491606 missense C T PCR or Sanger sequencing 0.992 deleterious
AutG79750ZNF385D 3 21606120 synonymous G A PCR or Sanger sequencing
AutG7155TOP2B 3 25674261 no-frame-shift CCACATA C strong
AutG165904XIRP1 3 39230145 synonymous G A PCR or Sanger sequencing
AutG1524CX3CR1 3 39307946 missense C G PCR or Sanger sequencing 0.0324 neutral
AutG54986ULK4 3 41977284 intron A T strong
AutG22906TRAK1 3 42242295 intron G A strong
AutG10663CXCR6 3 45988924 synonymous A G PCR or Sanger sequencing
KIF9-AS1 3 47264607 non-coding-intron C T strong
AutG64147KIF9 3 47291943 intron A T strong
AutG64147KIF9 3 47291948 intron C T strong
AutG4134MAP4 3 47957817 synonymous C T PCR or Sanger sequencing
AutG11186RASSF1 3 50374742 synonymous C T PCR or Sanger sequencing
AutG55193PBRM1 3 52584431 intron T C strong
AutG55193PBRM1 3 52643674 missense G A PCR or Sanger sequencing 0.9458 deleterious
AutG26354GNL3 3 52727771 missense A G strong 0.0164 neutral
AutG3699ITIH3 3 52836816 missense A G PCR or Sanger sequencing 0.9515 deleterious
AutG55799CACNA2D3 3 55108254 3'UTR T C strong
AutG50650ARHGEF3 3 57069148 synonymous G A PCR or Sanger sequencing
AutG201625DNAH12 3 57357136 missense C T PCR or Sanger sequencing
AutG2317FLNB 3 58095814 missense C T PCR or Sanger sequencing 0.9263 deleterious
AutG8545CGGBP1 3 88104967 missense G A PCR or Sanger sequencing 0.6352 deleterious
AutG131544CRYBG3 3 97611837 intron TGTGA T PCR or Sanger sequencing
AutG9868TOMM70A 3 100084410 noEnd A G PCR or Sanger sequencing
AutG79669C3orf52 3 111805385 missense C G PCR or Sanger sequencing 0.0957 neutral
AutG91653BOC 3 112997521 synonymous A T PCR or Sanger sequencing
AutG79691QTRTD1 3 113795683 missense G A PCR or Sanger sequencing 0.8534 deleterious
AutG56983POGLUT1 3 119205717 missense C T PCR or Sanger sequencing 0.985 deleterious
AutG165829GPR156 3 119886113 synonymous C T PCR or Sanger sequencing
AutG2804GOLGB1 3 121413433 missense C A PCR or Sanger sequencing 0.0327 neutral
AutG846CASR 3 121976036 synonymous T C PCR or Sanger sequencing
AutG8997KALRN 3 124141039 intron ATATATGAGAG A strong
AutG10840ALDH1L1 3 125822675 missense T G PCR or Sanger sequencing 0.1361 neutral
AutG28999KLF15 3 126071150 missense C G PCR or Sanger sequencing 0.1694 neutral
AutG132243H1FOO 3 129268116 frame-shift GC G PCR or Sanger sequencing
AutG23317DNAJC13 3 132247145 missense C T PCR or Sanger sequencing 0.8439 deleterious
AutG84129ACAD11 3 132277795 3'UTR A C strong
AutG6259RYK 3 133896766 intron T A strong
AutG199221DZIP1L 3 137799496 intron GCTCTGGACCCCAT G strong
AutG256356GK5 3 141884477 missense T C PCR or Sanger sequencing 0.9307 deleterious
U2SURP 3 142733223 missense A G PCR or Sanger sequencing 0.5669 deleterious
AutG9435CHST2 3 142839813 missense G C PCR or Sanger sequencing 0.8669 deleterious
AutG51714SELT 3 150340799 intron TCTGATGA T strong
AutG23007PLCH1 3 155208647 missense G C PCR or Sanger sequencing 0.8701 deleterious
AutG131149OTOL1 3 161217077 intron A AG strong
AutG79740ZBBX 3 166958690 missense G T PCR or Sanger sequencing 0.0411 neutral
ACTRT3 3 169485485 missense C T PCR or Sanger sequencing 0.0112 neutral
AutG6498SKIL 3 170078902 synonymous C G PCR or Sanger sequencing
AutG6498SKIL 3 170079096 missense A C PCR or Sanger sequencing 0.2953 neutral
AutG1894ECT2 3 172504293 synonymous G A PCR or Sanger sequencing
AutG27074LAMP3 3 182871681 missense T G PCR or Sanger sequencing 0.5042 neutral
AutG79929MAP6D1 3 183535206 missense T C PCR or Sanger sequencing 0.9606 deleterious
AutG10057ABCC5 3 183667631 missense G A PCR or Sanger sequencing 0.9982 deleterious
AutG1981EIF4G1 3 184049725 intron T G strong
AutG1608DGKG 3 186006628 missense C A PCR or Sanger sequencing 0.0591 neutral
AutG8626TP63 3 189379852 intron C T strong
AutG79572ATP13A3 3 194151881 synonymous T C PCR or Sanger sequencing
AutG4585MUC4 3 195512768 missense T A strong 0.0012 neutral
AutG4585MUC4 3 195513364 missense C T strong 0.0099 neutral
AutG4585MUC4 3 195515198 missense C G strong 0.0064 neutral
AutG26043UBXN7 3 196134173 synonymous G A PCR or Sanger sequencing
AutG9711KIAA0226 3 197423603 intron A G strong
AutG9711KIAA0226 3 197423604 intron C T strong
AutG84859LRCH3 3 197544071 synonymous G A PCR or Sanger sequencing
UVSSA 4 1348625 missense C T PCR or Sanger sequencing 0.6748 deleterious
AutG7468WHSC1 4 1944041 3'UTR T C strong
AutG2868GRK4 4 3009577 intron G A strong
AutG166793ZBTB49 4 4303826 missense A T PCR or Sanger sequencing 0.9987 deleterious
AutG152789JAKMIP1 4 6050571 intron C T strong
AutG152789JAKMIP1 4 6114519 missense T C PCR or Sanger sequencing 0.5365 deleterious
AutG60312AFAP1 4 7840289 missense C T PCR or Sanger sequencing 0.0742 neutral
AutG8310ACOX3 4 8412052 missense C T PCR or Sanger sequencing 0.8804 deleterious
AutG8842PROM1 4 15981050 synonymous A G PCR or Sanger sequencing
AutG27146FAM184B 4 17706804 missense G T PCR or Sanger sequencing 0.0394 neutral
AutG5099PCDH7 4 30724309 missense G A PCR or Sanger sequencing 0.8318 deleterious
AutG23216TBC1D1 4 38117541 missense G A PCR or Sanger sequencing 0.9494 deleterious
AutG7358UGDH 4 39506998 intron A G strong
AutG3093UBE2K 4 39699887 5'UTR CGGTGGCGGTGGTCGTAGCGGTGGCGGA C PCR or Sanger sequencing
AutG285429DCAF4L1 4 41984085 synonymous C T PCR or Sanger sequencing
AutG132789GNPDA2 4 44709892 missense T C PCR or Sanger sequencing 0.1188 neutral
AutG253017TECRL 4 65180381 missense C T strong 0.4962 deleterious
AutG91746YTHDC1 4 69195952 frame-shift AT A PCR or Sanger sequencing
AutG91746YTHDC1 4 69202896 no-frame-shift CTCCTCCTCCTCCTCT C strong
AutG4589MUC7 4 71339820 intron C T strong
AutG8671SLC4A4 4 72423497 synonymous T C PCR or Sanger sequencing
AutG174AFP 4 74318320 missense C T strong 0.0805 neutral
AutG173AFM 4 74357772 nonsense C T PCR or Sanger sequencing
AutG80144FRAS1 4 79353580 missense G A PCR or Sanger sequencing 0.0689 neutral
AutG58478ENOPH1 4 83378196 intron G T strong
AutG79725THAP9 4 83839760 missense C A PCR or Sanger sequencing 0.2814 neutral
AutG132660LIN54 4 83852236 synonymous C T PCR or Sanger sequencing
AutG5783PTPN13 4 87684079 synonymous T C PCR or Sanger sequencing
AutG5783PTPN13 4 87696594 splice-site G A PCR or Sanger sequencing
AutG1834DSPP 4 88537294 synonymous T C PCR or Sanger sequencing
AutG4126MANBA 4 103644163 missense G C PCR or Sanger sequencing 0.9908 deleterious
AutG54790TET2 4 106196675 missense C T PCR or Sanger sequencing 0.4219 neutral
AutG27068PPA2 4 106290837 3'UTR T A strong
AutG93627TBCK 4 107165814 missense G C PCR or Sanger sequencing 0.4877 deleterious
AutG93627TBCK 4 107168437 missense G C PCR or Sanger sequencing 0.0236 neutral
AutG92610TIFA 4 113199493 missense T G PCR or Sanger sequencing 0.2625 neutral
AutG80216ALPK1 4 113303646 missense G A PCR or Sanger sequencing 0.0826 neutral
AutG79931TNIP3 4 122059804 synonymous C T PCR or Sanger sequencing
AutG2247FGF2 4 123797538 missense C T PCR or Sanger sequencing 0.9613 deleterious
AutG166378SPATA5 4 124177304 missense T C PCR or Sanger sequencing 0.4187 neutral
AutG79633FAT4 4 126411443 missense G A PCR or Sanger sequencing 0.5125 deleterious
AutG22824HSPA4L 4 128715309 intron G A strong
AutG54798DCHS2 4 155241851 missense C T PCR or Sanger sequencing 0.3025 neutral
AutG2982GUCY1A3 4 156634254 missense T A PCR or Sanger sequencing 0.5035 deleterious
AutG9693RAPGEF2 4 160259637 intron C A strong
AutG80014WWC2 4 184129311 splice-site T C PCR or Sanger sequencing
AutG133121ENPP6 4 185012498 synonymous C T PCR or Sanger sequencing
AutG2160F11 4 187201555 intron GGTTATGCAGACACCCTT G strong
AutG2195FAT1 4 187517848 synonymous G A PCR or Sanger sequencing
AutG2195FAT1 4 187549328 missense A T PCR or Sanger sequencing 0.6926 deleterious
AutG9037SEMA5A 5 9050563 missense G C PCR or Sanger sequencing 0.9923 deleterious
AutG9037SEMA5A 5 9119084 intron GTGCTGGCAGCA G strong
AutG1767DNAH5 5 13841076 missense C T PCR or Sanger sequencing 0.8673 deleterious
AutG7204TRIO 5 14364820 missense G T PCR or Sanger sequencing 0.2011 neutral
AutG23037PDZD2 5 32087698 missense G A PCR or Sanger sequencing 0.0103 neutral
AutG51151SLC45A2 5 33982500 missense T C PCR or Sanger sequencing 0.0266 neutral
AutG100129792CCDC152 5 42759197 5'UTR-intron A G strong
AutG54505DHX29 5 54563046 nonsense G A PCR or Sanger sequencing
AutG64087MCCC2 5 70900233 missense C G PCR or Sanger sequencing 0.962 deleterious
AutG4131MAP1B 5 71494926 missense C T PCR or Sanger sequencing 0.9632 deleterious
AutG134359POC5 5 74981033 missense A G PCR or Sanger sequencing 0.0044 neutral
AutG10788IQGAP2 5 75923263 nonsense G A PCR or Sanger sequencing
AutG8546AP3B1 5 77316626 intron A T strong
AutG167153PAPD4 5 78975417 missense G C PCR or Sanger sequencing 0.7585 deleterious
AutG1105CHD1 5 98194693 frame-shift C CA PCR or Sanger sequencing
AutG55521TRIM36 5 114473324 intron A C strong
AutG10802SEC24A 5 134050741 missense C G PCR or Sanger sequencing 0.9304 deleterious
AutG10802SEC24A 5 134059281 missense C A PCR or Sanger sequencing 0.3635 neutral
AutG10802SEC24A 5 134059282 missense C G PCR or Sanger sequencing 0.7207 deleterious
AutG4090SMAD5 5 135489574 frame-shift TAAAA T PCR or Sanger sequencing
AutG56146PCDHA2 5 140175208 missense C A PCR or Sanger sequencing 0.9993 deleterious
AutG56127PCDHB9 5 140567643 missense G C PCR or Sanger sequencing
AutG56127PCDHB9 5 140569226 synonymous G T PCR or Sanger sequencing
AutG8841HDAC3 5 141009384 intron A AC strong
AutG10915TCERG1 5 145890147 missense G A PCR or Sanger sequencing 0.4017 neutral
AutG1809DPYSL3 5 146804493 missense C T strong 0.0642 neutral
AutG81545FBXO38 5 147821679 missense A G strong 0.1052 neutral
AutG815CAMK2A 5 149631595 missense T A PCR or Sanger sequencing 0.9999 deleterious
AutG6678SPARC 5 151054254 intron A G strong
AutG10146G3BP1 5 151173742 missense A G PCR or Sanger sequencing 0.0757 neutral
AutG1794DOCK2 5 169412870 synonymous C T PCR or Sanger sequencing
AutG64901RANBP17 5 170597192 missense C T PCR or Sanger sequencing 0.4825 neutral
AutG57222ERGIC1 5 172315717 synonymous G A PCR or Sanger sequencing
AutG114787GPRIN1 5 176026121 frame-shift TCAAAGACCCAGGA T strong
AutG51720UIMC1 5 176334136 missense G C PCR or Sanger sequencing 0.2923 neutral
AutG79930DOK3 5 176931344 synonymous C T PCR or Sanger sequencing
AutG80108ZFP2 5 178359410 nonsense C T PCR or Sanger sequencing
AutG153579BTNL9 5 180485372 missense T A PCR or Sanger sequencing 0.0379 neutral
AutG6745SSR1 6 7299010 no-frame-shift ATAACTG A strong
AutG2651GCNT2 6 10529778 missense G A PCR or Sanger sequencing 0.9361 deleterious
AutG2651GCNT2 6 10586330 synonymous G T PCR or Sanger sequencing
AutG9247GCM2 6 10874703 missense C T PCR or Sanger sequencing 0.3701 neutral
AutG10048RANBP9 6 13711321 synonymous G A PCR or Sanger sequencing
AutG3720JARID2 6 15374368 synonymous G A PCR or Sanger sequencing
AutG8355HIST1H3G 6 26271503 missense T C PCR or Sanger sequencing 0.5971 deleterious
AutG8355HIST1H3G 6 26271590 missense G A PCR or Sanger sequencing 0.7508 deleterious
BTN2A3P 6 26422389 non-coding C T strong
ZSCAN26 6 28239880 synonymous G A PCR or Sanger sequencing
AutG80317ZKSCAN3 6 28327608 no-frame-shift AGGAGCAGATCCTGGAGCTGCTGGTGCT A strong
HLA-F-AS1 6 29697892 non-coding-intron ATGCTCG A strong
AutG5089PBX2 6 32155879 missense T A PCR or Sanger sequencing 0.8661 deleterious
AutG3108HLA-DMA 6 32916657 intron A C strong
AutG6046BRD2 6 32942326 missense G T PCR or Sanger sequencing 0.2186 neutral
AutG54887UHRF1BP1 6 34825498 intron C T strong
AutG6954TCP11 6 35088753 synonymous G A PCR or Sanger sequencing
AutG221458KIF6 6 39512337 missense C T PCR or Sanger sequencing 0.7291 deleterious
AutG7942TFEB 6 41657498 missense T A PCR or Sanger sequencing 0.2257 neutral
AutG23304UBR2 6 42657338 missense G T PCR or Sanger sequencing 0.5125 deleterious
AutG10695CNPY3 6 42905450 intron T A strong
AutG5528PPP2R5D 6 42975179 frame-shift CT C PCR or Sanger sequencing
AutG5754PTK7 6 43109471 nonsense C T PCR or Sanger sequencing
AutG221400TDRD6 6 46661295 synonymous A G PCR or Sanger sequencing
AutG266977GPR110 6 46976699 synonymous A C PCR or Sanger sequencing
MLIP 6 53986370 synonymous A C PCR or Sanger sequencing
AutG667DST 6 56566767 intron AG A strong
AutG1310COL19A1 6 70637786 intron G T strong
AutG25821MTO1 6 74192157 intron T G strong
AutG1303COL12A1 6 75843100 missense C G PCR or Sanger sequencing 0.8909 deleterious
AutG26054SENP6 6 76412395 missense G A PCR or Sanger sequencing 0.6132 deleterious
AutG4646MYO6 6 76527291 synonymous G A PCR or Sanger sequencing
AutG9994CASP8AP2 6 90581006 splice-site A G PCR or Sanger sequencing
AutG2045EPHA7 6 93965574 missense T C PCR or Sanger sequencing 0.0189 neutral
MMS22L 6 97627418 missense A C PCR or Sanger sequencing 0.9712 deleterious
AutG85015USP45 6 99887716 missense G A PCR or Sanger sequencing 0.9771 deleterious
AutG57531HACE1 6 105224911 missense G A PCR or Sanger sequencing 0.3442 neutral
AutG51362CDC40 6 110547478 intron G C strong
AutG134829CLVS2 6 123369774 frame-shift TC T PCR or Sanger sequencing
AutG3908LAMA2 6 129468180 missense A C PCR or Sanger sequencing 0.7211 deleterious
AutG54806AHI1 6 135754219 synonymous G T PCR or Sanger sequencing
AutG54806AHI1 6 135774505 missense G A PCR or Sanger sequencing 0.5125 deleterious
AutG4217MAP3K5 6 137015334 synonymous A G PCR or Sanger sequencing
AutG345930ECT2L 6 139159666 intron A G strong
AutG3097HIVEP2 6 143094725 missense G A PCR or Sanger sequencing 0.9885 deleterious
AutG7402UTRN 6 145079042 intron A G strong
AutG257218SHPRH 6 146266701 missense T C PCR or Sanger sequencing 0.8233 deleterious
AutG23328SASH1 6 148711366 missense C T strong 0.4304 deleterious
AutG5110PCMT1 6 150123528 3'UTR CTCTT C strong
AutG84918LRP11 6 150164130 missense T G PCR or Sanger sequencing 0.1706 neutral
AutG57492ARID1B 6 157525120 missense A G strong 0.0736 neutral
AutG56995TULP4 6 158924672 missense T G PCR or Sanger sequencing 0.3438 neutral
AutG94120SYTL3 6 159184512 missense G A strong 0.4927 deleterious
AutG29074MRPL18 6 160211586 5'UTR A G strong
AutG3482IGF2R 6 160445739 intron A G strong
AutG4301MLLT4 6 168276026 missense G A PCR or Sanger sequencing 0.4142 neutral
AutG5575PRKAR1B 7 624187 missense G A PCR or Sanger sequencing 0.9739 deleterious
AutG11033ADAP1 7 944768 missense C T PCR or Sanger sequencing 0.605 deleterious
AutG8662EIF3B 7 2416614 missense C G PCR or Sanger sequencing 0.0081 neutral
AutG3955LFNG 7 2565873 intron C T strong
AutG60ACTB 7 5567393 missense G A PCR or Sanger sequencing 0.856 deleterious
AutG11014KDELR2 7 6505719 no-frame-shift TAGA T strong
AutG79034C7orf26 7 6639797 synonymous C T PCR or Sanger sequencing
AutG11097NUPL2 7 23226786 intron T C strong
AutG9603NFE2L3 7 26224578 frame-shift CCTTT C PCR or Sanger sequencing
AutG1124CHN2 7 29519745 frame-shift T TG PCR or Sanger sequencing
PPP1R17 7 31736721 synonymous C A PCR or Sanger sequencing
AutG27241BBS9 7 33376045 intron T C strong
AutG8621CDK13 7 40134546 no-frame-shift T TGGCAGA strong
AutG55665URGCP 7 43918279 synonymous G A strong
AutG136288C7orf57 7 48089488 synonymous G A PCR or Sanger sequencing
AutG7697ZNF138 7 64292065 missense C T PCR or Sanger sequencing 0.0062 neutral
AutG435ASL 7 65547355 missense G A PCR or Sanger sequencing 0.9001 deleterious
AutG51119SBDS 7 66459316 synonymous G A strong
AutG64409WBSCR17 7 71130393 intron T C strong
AutG64409WBSCR17 7 71130575 synonymous G A PCR or Sanger sequencing
AutG9883POM121 7 72419008 noEnd G C strong
AutG8468FKBP6 7 72754789 missense G T PCR or Sanger sequencing 0.2017 neutral
AutG3984LIMK1 7 73513559 missense G A PCR or Sanger sequencing 0.8818 deleterious
AutG100101267POM121C 7 75052242 synonymous C T PCR or Sanger sequencing
AutG5782PTPN12 7 77265144 missense G A PCR or Sanger sequencing 0.0609 neutral
AutG5243ABCB1 7 87145975 synonymous A G PCR or Sanger sequencing
AutG154661RUNDC3B 7 87339897 nonsense G A PCR or Sanger sequencing
AutG7978MTERF 7 91503940 synonymous C T PCR or Sanger sequencing
AutG54467ANKIB1 7 92028037 no-frame-shift AACTGGTGCTGCCAGAAGATTC A strong
AutG257415FAM133B 7 92207484 missense C T PCR or Sanger sequencing 0.1775 neutral
AutG219285SAMD9L 7 92765186 synonymous G A PCR or Sanger sequencing
AutG22853LMTK2 7 97823256 missense C A PCR or Sanger sequencing 0.7966 deleterious
AutG8295TRRAP 7 98508792 synonymous C T strong
AutG6878TAF6 7 99711308 missense T C PCR or Sanger sequencing 0.26 neutral
AutG10734STAG3 7 99802722 missense T C PCR or Sanger sequencing 0.9733 deleterious
AutG56257MEPCE 7 100028771 missense G A PCR or Sanger sequencing 0.4763 deleterious
AutG64599GIGYF1 7 100282216 frame-shift C CCATCT PCR or Sanger sequencing
AutG56996SLC12A9 7 100460363 missense G A PCR or Sanger sequencing 0.3047 neutral
AutG43ACHE 7 100488870 missense G A PCR or Sanger sequencing 0.6754 deleterious
AutG43ACHE 7 100491403 missense C T PCR or Sanger sequencing 0.9971 deleterious
AutG140453MUC17 7 100682275 synonymous A G strong
AutG8985PLOD3 7 100850973 synonymous C T strong
AutG50640PNPLA8 7 108128243 missense C G PCR or Sanger sequencing 0.1669 neutral
AutG375616KCP 7 128547390 synonymous G A PCR or Sanger sequencing
AutG23534TNPO3 7 128622321 missense G A PCR or Sanger sequencing 0.0273 neutral
AutG23382AHCYL2 7 129008378 missense A G PCR or Sanger sequencing 0.0082 neutral
STRIP2 7 129094327 missense G A PCR or Sanger sequencing 0.142 neutral
AutG136332LRGUK 7 133827810 intron C T strong
AutG5645PRSS2 7 142480014 missense G C strong
AutG56302TRPV5 7 142612052 missense T G PCR or Sanger sequencing 0.9976 deleterious
AutG135935NOBOX 7 144094582 synonymous C T PCR or Sanger sequencing
AutG135935NOBOX 7 144097259 missense C T PCR or Sanger sequencing 0.3269 neutral
AutG643641ZNF862 7 149544968 missense G A PCR or Sanger sequencing 0.0842 neutral
AutG65999LRRC61 7 150034256 synonymous C T PCR or Sanger sequencing
AOC1 7 150553909 synonymous G T PCR or Sanger sequencing
ASIC3 7 150749266 frame-shift AG A PCR or Sanger sequencing
AutG51422PRKAG2 7 151510351 intron G A strong
AutG1804DPP6 7 154561183 missense G A PCR or Sanger sequencing 0.825 deleterious
AutG79648MCPH1 8 6272346 missense A G PCR or Sanger sequencing 0.9146 deleterious
AutG8658TNKS 8 9567627 intron T C strong
AutG640BLK 8 11415531 missense T C PCR or Sanger sequencing 0.9702 deleterious
AutG2626GATA4 8 11607635 missense G A PCR or Sanger sequencing 0.9719 deleterious
AutG2267FGL1 8 17731961 missense G T PCR or Sanger sequencing 0.0936 neutral
AutG427ASAH1 8 17928913 intron T A strong
AutG6440SFTPC 8 22019422 intron G A strong
AutG55124PIWIL2 8 22147874 intron G A strong
AutG1960EGR3 8 22550356 synonymous G A PCR or Sanger sequencing
AutG80005DOCK5 8 25257428 frame-shift C CT PCR or Sanger sequencing
AutG64641EBF2 8 25898178 missense G T PCR or Sanger sequencing 0.9987 deleterious
AutG157855KCNU1 8 36793231 synonymous T C PCR or Sanger sequencing
AutG6867TACC1 8 38645085 5'UTR C G strong
AutG8754ADAM9 8 38884348 intron C T strong
AutG8754ADAM9 8 38884349 intron T C strong
AutG286ANK1 8 41550730 intron G A strong
AutG286ANK1 8 41641520 intron T C strong
AutG5591PRKDC 8 48849076 missense G A PCR or Sanger sequencing
AutG54212SNTG1 8 51306875 intron G A strong
AutG137902PXDNL 8 52320634 synonymous G A PCR or Sanger sequencing
AutG55156ARMC1 8 66534524 missense C A PCR or Sanger sequencing 0.1103 neutral
AutG80243PREX2 8 69002939 missense C T PCR or Sanger sequencing 0.7897 deleterious
AutG85444LRRCC1 8 86037085 missense G A PCR or Sanger sequencing 0.1709 neutral
AutG138009DCAF4L2 8 88885654 missense G C PCR or Sanger sequencing 0.7485 deleterious
AutG54845ESRP1 8 95680394 synonymous A C PCR or Sanger sequencing
AutG157680VPS13B 8 100479648 missense C T PCR or Sanger sequencing 0.9061 deleterious
AutG157680VPS13B 8 100583075 intron T A strong
AutG286151FBXO43 8 101153250 missense G C PCR or Sanger sequencing 0.0577 neutral
AutG51582AZIN1 8 103852065 intron A T strong
AutG84955NUDCD1 8 110255473 missense G A PCR or Sanger sequencing 0.911 deleterious
AutG7227TRPS1 8 116616940 missense C A PCR or Sanger sequencing 0.1152 neutral
AutG3037HAS2 8 122641512 synonymous G C PCR or Sanger sequencing
AutG9788MTSS1 8 125568650 intron T C strong
AutG50807ASAP1 8 131179874 intron A G strong
AutG114ADCY8 8 131949457 intron C A strong
AutG7038TG 8 133935689 synonymous C T PCR or Sanger sequencing
AutG575BAI1 8 143604104 intron C T strong
AutG116447TOP1MT 8 144397947 synonymous C T PCR or Sanger sequencing
AutG84875PARP10 8 145059354 synonymous A G PCR or Sanger sequencing
AutG26873OPLAH 8 145110038 missense C T PCR or Sanger sequencing 0.7719 deleterious
AutG4781NFIB 9 14150143 splice-site C T PCR or Sanger sequencing
CCDC171 9 15784693 splice-site G A PCR or Sanger sequencing
AutG6194RPS6 9 19379608 synonymous G A PCR or Sanger sequencing
AutG401494PTPLAD2 9 21015926 synonymous G A PCR or Sanger sequencing
AutG1993ELAVL2 9 23692707 frame-shift CACGGATG C PCR or Sanger sequencing
AutG286319TUSC1 9 25677688 nonsense C T PCR or Sanger sequencing
EQTN 9 27291044 missense G T PCR or Sanger sequencing 0.0192 neutral
AutG23586DDX58 9 32493940 missense C T PCR or Sanger sequencing 0.194 neutral
AutG7415VCP 9 35057454 missense C T PCR or Sanger sequencing 0.9991 deleterious
AutG10497UNC13B 9 35231139 synonymous C G PCR or Sanger sequencing
AutG9413FAM189A2 9 71986456 missense A C PCR or Sanger sequencing 0.2448 neutral
AutG375743PTAR1 9 72333476 missense G C PCR or Sanger sequencing 0.1094 neutral
AutG117531TMC1 9 75431105 frame-shift TC T PCR or Sanger sequencing
AutG140803TRPM6 9 77416901 missense G T PCR or Sanger sequencing 0.657 deleterious
AutG5125PCSK5 9 78628325 intron A C strong
AutG158471PRUNE2 9 79323453 missense C T PCR or Sanger sequencing 0.009 neutral
AutG23230VPS13A 9 79930228 frame-shift AAGTC A PCR or Sanger sequencing
SPATA31D1 9 84607958 missense A G PCR or Sanger sequencing 0.0445 neutral
AutG257019FRMD3 9 85926860 missense A G PCR or Sanger sequencing 0.6572 deleterious
AutG3190HNRNPK 9 86585713 missense C T PCR or Sanger sequencing 0.4304 neutral
AutG4915NTRK2 9 87338598 missense G T PCR or Sanger sequencing 0.6836 deleterious
AutG1612DAPK1 9 90264933 missense G A PCR or Sanger sequencing 0.0817 neutral
AutG4783NFIL3 9 94172880 missense A C PCR or Sanger sequencing 0.4612 neutral
AutG401541CENPP 9 95100025 intron C A strong
AutG4969OGN 9 95155495 frame-shift TAAAC T PCR or Sanger sequencing
AutG84909C9orf3 9 97563096 synonymous C T PCR or Sanger sequencing
ERCC6L2 9 98654049 intron C T strong
AutG11046SLC35D2 9 99086455 intron T C strong
AutG51531C9orf156 9 100672811 missense G A PCR or Sanger sequencing
AutG56254RNF20 9 104297835 splice-site G A PCR or Sanger sequencing
AutG58499ZNF462 9 109692806 missense C A PCR or Sanger sequencing 0.2326 neutral
AutG10881ACTL7A 9 111625008 nonsense C T PCR or Sanger sequencing
INIP 9 115456456 missense T G PCR or Sanger sequencing 0.7948 deleterious
AutG85301COL27A1 9 116930294 synonymous C T PCR or Sanger sequencing
AutG80709AKNA 9 117103870 missense G A PCR or Sanger sequencing 0.1522 neutral
AutG727C5 9 123734289 intron A G strong
AutG26740OR1J2 9 125273716 missense G A PCR or Sanger sequencing 0.0065 neutral
AutG347088GPR144 9 127237709 intron C T strong
AutG26130GAPVD1 9 128092441 missense C G PCR or Sanger sequencing 0.3342 neutral
AutG26130GAPVD1 9 128118025 missense C A strong 0.4688 deleterious
AutG6418SET 9 131454235 missense A G PCR or Sanger sequencing 0.1511 neutral
AutG23511NUP188 9 131752513 intron C T strong
AutG25ABL1 9 133759724 missense T C PCR or Sanger sequencing 0.7075 deleterious
AutG11093ADAMTS13 9 136315045 synonymous G A PCR or Sanger sequencing
PPP1R26 9 138378306 synonymous G A PCR or Sanger sequencing
AutG157922CAMSAP1 9 138758402 intron C T strong
AutG10422UBAC1 9 138831489 intron C CA strong
AutG26086GPSM1 9 139231956 missense G A PCR or Sanger sequencing 0.6661 deleterious
AutG4851NOTCH1 9 139402449 synonymous G A PCR or Sanger sequencing
AutG91373UAP1L1 9 139973032 synonymous C T PCR or Sanger sequencing
AutG22982DIP2C 10 375509 missense G A PCR or Sanger sequencing 0.992 deleterious
AutG23185LARP4B 10 871029 missense G T PCR or Sanger sequencing 0.1986 neutral
AutG23185LARP4B 10 876865 frame-shift TCA T PCR or Sanger sequencing
AutG1646AKR1C2 10 5032204 missense A G PCR or Sanger sequencing 0.0957 neutral
AutG10659CELF2 10 11330451 synonymous C T PCR or Sanger sequencing
AutG8559PRPF18 10 13629108 missense A G PCR or Sanger sequencing 0.3089 neutral
AutG55691FRMD4A 10 13852928 intron G A strong
AutG64421DCLRE1C 10 14977449 intron C G strong
AutG8516ITGA8 10 15634273 missense G A PCR or Sanger sequencing 0.065 neutral
AutG6251RSU1 10 16806500 missense G A PCR or Sanger sequencing 0.6431 deleterious
AutG57584ARHGAP21 10 24886431 frame-shift CTT C PCR or Sanger sequencing
AutG51322WAC 10 28879673 frame-shift CAA C PCR or Sanger sequencing
AutG3688ITGB1 10 33224471 missense T C PCR or Sanger sequencing 0.0529 neutral
AutG83849SYT15 10 46968675 synonymous A G PCR or Sanger sequencing
AutG5599MAPK8 10 49634452 missense A T PCR or Sanger sequencing 0.7527 deleterious
AutG57705WDFY4 10 50075397 intron A G strong
AutG57705WDFY4 10 50109868 missense C A PCR or Sanger sequencing 0.765 deleterious
AutG8031NCOA4 10 51585462 frame-shift CAG C PCR or Sanger sequencing
AutG65217PCDH15 10 55581663 synonymous G A PCR or Sanger sequencing
AutG288ANK3 10 61833372 missense G A PCR or Sanger sequencing 0.9349 deleterious
AutG288ANK3 10 61967911 synonymous G A PCR or Sanger sequencing
AutG221037JMJD1C 10 64968221 missense C T PCR or Sanger sequencing 0.0479 neutral
AutG221037JMJD1C 10 65140206 nonsense G A PCR or Sanger sequencing
AutG84647PLA2G12B 10 74701046 missense T C PCR or Sanger sequencing 0.8925 deleterious
ZSWIM8 10 75560469 missense C G PCR or Sanger sequencing 0.4303 neutral
AutG7414VCL 10 75860760 missense A G PCR or Sanger sequencing 0.9814 deleterious
KAT6B 10 76781848 missense C A PCR or Sanger sequencing 0.0751 neutral
AutG26103LRIT1 10 85992477 no-frame-shift CTCCTGGGCT C strong
CCSER2 10 86131994 missense G A PCR or Sanger sequencing 0.3943 neutral
AutG11155LDB3 10 88478538 missense G T PCR or Sanger sequencing 0.5125 deleterious
AutG10580SORBS1 10 97098949 frame-shift CCA C PCR or Sanger sequencing
AutG5832ALDH18A1 10 97371016 missense C G PCR or Sanger sequencing 0.0288 neutral
AutG26148C10orf12 10 98744251 missense G C PCR or Sanger sequencing 0.1509 neutral
AutG55361PI4K2A 10 99426263 missense C T PCR or Sanger sequencing 0.928 deleterious
AutG6319SCD 10 102116547 intron AC A strong
AutG79591C10orf76 10 103771485 missense T C PCR or Sanger sequencing 0.4745 deleterious
AutG22984PDCD11 10 105184868 missense G A PCR or Sanger sequencing 0.0487 neutral
AutG120ADD3 10 111882047 missense C A PCR or Sanger sequencing 0.7368 deleterious
AutG6975TECTB 10 114061923 intron G A strong
AutG6934TCF7L2 10 114910883 splice-site G A PCR or Sanger sequencing
AutG4892NRAP 10 115406755 missense C T PCR or Sanger sequencing 0.9697 deleterious
AutG84632AFAP1L2 10 116082909 intron G C strong
AutG84632AFAP1L2 10 116164208 synonymous G T PCR or Sanger sequencing
AutG7073TIAL1 10 121336635 missense T C PCR or Sanger sequencing 0.5673 deleterious
AutG9531BAG3 10 121429632 synonymous G A PCR or Sanger sequencing
AutG10579TACC2 10 123985965 missense C T PCR or Sanger sequencing 0.0936 neutral
AutG118611C10orf90 10 128193561 frame-shift A AG PCR or Sanger sequencing
AutG1793DOCK1 10 129242541 missense C T PCR or Sanger sequencing 0.5441 deleterious
AutG55844PPP2R2D 10 133761014 intron CATTTT C strong
AutG85442KNDC1 10 135027123 intron A G strong
AutG4588MUC6 11 1018420 missense T G PCR or Sanger sequencing 0.009 neutral
AutG4583MUC2 11 1090971 missense C T PCR or Sanger sequencing 0.0082 neutral
AutG4583MUC2 11 1094679 missense G A PCR or Sanger sequencing 0.0171 neutral
AutG4583MUC2 11 1104228 missense G A PCR or Sanger sequencing 0.0126 neutral
AutG4583MUC2 11 1104266 3'UTR G A strong
AutG727897MUC5B 11 1264158 synonymous T C strong
AutG727897MUC5B 11 1265831 missense T C strong 0.0003 neutral
AutG727897MUC5B 11 1269758 missense C T strong 0.0265 neutral
AutG727897MUC5B 11 1271969 no-frame-shift GCACAACCACCACACC G strong
MOB2 11 1579522 intron G GT strong
AutG90019SYT8 11 1856560 synonymous C T PCR or Sanger sequencing
AutG5002SLC22A18 11 2939260 missense C T PCR or Sanger sequencing 0.0094 neutral
AutG85363TRIM5 11 5699639 missense T C PCR or Sanger sequencing 0.0159 neutral
AutG160298C11orf42 11 6231119 missense C T PCR or Sanger sequencing 0.3698 neutral
AutG322APBB1 11 6417424 frame-shift G GC PCR or Sanger sequencing
AutG23378RRP8 11 6623212 missense T G PCR or Sanger sequencing 0.196 neutral
AutG57758SCUBE2 11 9077462 intron A G strong
AutG55031USP47 11 11969599 missense G A PCR or Sanger sequencing 0.5275 deleterious
AutG9645MICAL2 11 12247918 splice-site G A PCR or Sanger sequencing
AutG144100PLEKHA7 11 16863104 missense A C PCR or Sanger sequencing 0.1597 neutral
AutG10083USH1C 11 17552952 frame-shift CG C PCR or Sanger sequencing
AutG259249MRGPRX1 11 18955753 synonymous C A strong
AutG259249MRGPRX1 11 18955754 missense C A strong 0.0137 neutral
AutG89797NAV2 11 20117286 synonymous C T PCR or Sanger sequencing
AutG4745NELL1 11 21135209 missense C T PCR or Sanger sequencing 0.5534 deleterious
AutG63982ANO3 11 26484618 missense G A PCR or Sanger sequencing 0.1933 neutral
AutG196296DCDC5 11 30925196 missense G A PCR or Sanger sequencing 0.4242 deleterious
AutG91614DEPDC7 11 33049217 intron A G strong
AutG25841ABTB2 11 34182470 missense C T PCR or Sanger sequencing 0.0408 neutral
AutG9479MAPK8IP1 11 45927224 frame-shift GCAGTTTGTGGAGTA G PCR or Sanger sequencing
AutG51317PHF21A 11 45971023 frame-shift CT C PCR or Sanger sequencing
AutG8567MADD 11 47296389 missense G T PCR or Sanger sequencing 0.0174 neutral
AutG5795PTPRJ 11 48185164 missense A G PCR or Sanger sequencing 1 deleterious
AutG81309OR4C15 11 55322787 synonymous C A PCR or Sanger sequencing
AutG219972MPEG1 11 58979679 synonymous G A PCR or Sanger sequencing
AutG219995MS4A15 11 60531221 synonymous C T PCR or Sanger sequencing
AutG9066SYT7 11 61290653 missense T C PCR or Sanger sequencing 0.9758 deleterious
AutG221092HNRNPUL2 11 62490296 missense C T strong 0.0393 neutral
AutG283238SLC22A24 11 62850754 missense C T PCR or Sanger sequencing 0.0006 neutral
AutG55867SLC22A11 11 64331869 missense G T PCR or Sanger sequencing 0.9932 deleterious
AutG9379NRXN2 11 64444540 intron A AG strong
AutG387778SPDYC 11 64939990 nonsense C T PCR or Sanger sequencing
AutG4054LTBP3 11 65308636 missense C T PCR or Sanger sequencing 0.9337 deleterious
AutG399909PCNXL3 11 65396096 missense G T PCR or Sanger sequencing 0.9804 deleterious
AutG80198MUS81 11 65633438 intron G A strong
AutG254263CNIH2 11 66050162 intron C T strong
AutG55231CCDC87 11 66358293 nonsense C A PCR or Sanger sequencing
AutG10432RBM14 11 66391961 missense C G PCR or Sanger sequencing 0.2001 neutral
AutG79703C11orf80 11 66515885 frame-shift CAT C PCR or Sanger sequencing
AutG156ADRBK1 11 67046915 synonymous G A PCR or Sanger sequencing
AutG57175CORO1B 11 67208799 intron C T strong
AutG9600PITPNM1 11 67265421 synonymous G A PCR or Sanger sequencing
AutG53838C11orf24 11 68029416 frame-shift AGTCTCTACCT A strong
AutG4041LRP5 11 68181294 missense C T PCR or Sanger sequencing 0.0983 neutral
AutG8500PPFIA1 11 70176336 missense C T PCR or Sanger sequencing 0.9257 deleterious
AutG8500PPFIA1 11 70178154 missense C T PCR or Sanger sequencing 0.9406 deleterious
AutG22941SHANK2 11 70858273 missense A C PCR or Sanger sequencing
AutG220074LRTOMT 11 71818988 synonymous G T PCR or Sanger sequencing
AutG10809STARD10 11 72468902 nonsense G A PCR or Sanger sequencing
AutG9828ARHGEF17 11 73057978 synonymous T C PCR or Sanger sequencing
AutG81544GDPD5 11 75151018 intron C T strong
AutG57558USP35 11 77920689 synonymous C T PCR or Sanger sequencing
AutG120114FAT3 11 92087350 missense A C PCR or Sanger sequencing 0.0931 neutral
AutG120114FAT3 11 92533228 missense G A PCR or Sanger sequencing 0.9829 deleterious
AutG85459KIAA1731 11 93463107 frame-shift C CA PCR or Sanger sequencing
AutG28970C11orf54 11 93483496 intron T G strong
AutG143686SESN3 11 94908722 synonymous A C PCR or Sanger sequencing
AutG53942CNTN5 11 99827672 missense C G PCR or Sanger sequencing 0.0318 neutral
AutG143872ARHGAP42 11 100814606 intron GCTGTT G strong
AutG79659DYNC2H1 11 103024187 missense A C PCR or Sanger sequencing 0.949 deleterious
AutG143884CWF19L2 11 107207297 missense G A PCR or Sanger sequencing 0.9979 deleterious
AutG5519PPP2R1B 11 111630612 missense C G PCR or Sanger sequencing 0.5916 deleterious
AutG116519APOA5 11 116661599 missense C G PCR or Sanger sequencing 0.0365 neutral
AutG23387SIK3 11 116732054 synonymous G A PCR or Sanger sequencing
AutG51092SIDT2 11 117062673 synonymous C T PCR or Sanger sequencing
AutG283149BCL9L 11 118769835 synonymous G A PCR or Sanger sequencing
AutG338657CCDC84 11 118868936 missense G A PCR or Sanger sequencing 0.8374 deleterious
AutG64137ABCG4 11 119031617 missense C T PCR or Sanger sequencing 0.1462 neutral
AutG9099USP2 11 119230374 intron C T strong
AutG7007TECTA 11 121060495 frame-shift T TGGAG PCR or Sanger sequencing
AutG57476GRAMD1B 11 123477359 missense G A PCR or Sanger sequencing 0.0467 neutral
AutG54538ROBO4 11 124761588 missense C T PCR or Sanger sequencing 0.0412 neutral
AutG219855SLC37A2 11 124950640 missense G A strong 0.0323 neutral
AutG29118DDX25 11 125791158 missense A G PCR or Sanger sequencing 0.4004 neutral
AutG4798NFRKB 11 129739572 synonymous C T strong
AutG6768ST14 11 130048290 intron A T strong
AutG399979SNX19 11 130775881 missense C T PCR or Sanger sequencing 0.0032 neutral
AutG22997IGSF9B 11 133795695 missense T A PCR or Sanger sequencing 0.7712 deleterious
AutG23310NCAPD3 11 134072722 missense A G PCR or Sanger sequencing 0.005 neutral
AutG6540SLC6A13 12 332337 missense C T PCR or Sanger sequencing 0.6483 deleterious
AutG5893RAD52 12 1025873 frame-shift C CA PCR or Sanger sequencing
AutG775CACNA1C 12 2717804 missense G C PCR or Sanger sequencing 0.7328 deleterious
RHNO1 12 2997411 missense A G strong 0.0055 neutral
AutG57102C12orf4 12 4609424 synonymous C T PCR or Sanger sequencing
AutG1108CHD4 12 6687251 synonymous C T PCR or Sanger sequencing
AutG171017ZNF384 12 6788667 missense T C PCR or Sanger sequencing 0.5865 deleterious
AutG50856CLEC4A 12 8276483 synonymous G A PCR or Sanger sequencing
AutG64581CLEC7A 12 10280034 synonymous G A PCR or Sanger sequencing
AutG5545PRB4 12 11461769 missense G T strong 0.0334 neutral
AutG5545PRB4 12 11461769 missense G T strong 0.0334 neutral
AutG54682MANSC1 12 12483250 missense T C PCR or Sanger sequencing 0.05 neutral
AutG2998GYS2 12 21713361 synonymous G A PCR or Sanger sequencing
AutG55907CMAS 12 22215336 missense T C PCR or Sanger sequencing 0.2469 neutral
AutG55605KIF21A 12 39726737 missense G A strong 0.4875 neutral
AutG283461C12orf40 12 40037634 synonymous A G PCR or Sanger sequencing
AutG1280COL2A1 12 48389108 intron A G strong
AutG9416DDX23 12 49225047 missense G A PCR or Sanger sequencing 0.0975 neutral
KMT2D 12 49422858 missense C G PCR or Sanger sequencing 0.4395 neutral
AutG25766PRPF40B 12 50030515 synonymous T C PCR or Sanger sequencing
AutG7009TMBIM6 12 50153110 intron T G strong
AutG2819GPD1 12 50501397 synonymous C T PCR or Sanger sequencing
AutG81566CSRNP2 12 51470315 frame-shift CTT C PCR or Sanger sequencing
AutG3891KRT85 12 52756034 splice-site C T PCR or Sanger sequencing
AutG112802KRT71 12 52941786 intron G C strong
AutG1975EIF4B 12 53416262 intron T C strong
AutG22818COPZ1 12 54735998 synonymous C T PCR or Sanger sequencing
AutG22818COPZ1 12 54739230 intron C G strong
AutG254786OR6C3 12 55726227 missense C T PCR or Sanger sequencing 0.0301 neutral
AutG1431CS 12 56667052 intron G T strong
AutG4035LRP1 12 57548340 synonymous C T strong
AutG1649DDIT3 12 57911130 synonymous G A PCR or Sanger sequencing
AutG23041MON2 12 62892681 intron T C strong
AutG56890MDM1 12 68696451 missense G T PCR or Sanger sequencing 0.0765 neutral
AutG196441ZFC3H1 12 72017249 synonymous T C PCR or Sanger sequencing
AutG25834MGAT4C 12 86373419 missense C T PCR or Sanger sequencing 0.3351 neutral
AutG11163NUDT4 12 93792632 intron G GT PCR or Sanger sequencing
AutG160728SLC5A8 12 101588900 synonymous C T PCR or Sanger sequencing
AutG121599SPIC 12 101876682 intron C T strong
AutG9891NUAK1 12 106460608 missense G A PCR or Sanger sequencing 0.9044 deleterious
AutG55703POLR3B 12 106821067 synonymous C G PCR or Sanger sequencing
AutG84749USP30 12 109510128 missense C T PCR or Sanger sequencing 0.0541 neutral
AutG32ACACB 12 109625794 intron C T strong
AutG283446MYO1H 12 109877458 missense C T PCR or Sanger sequencing 0.4755 neutral
AutG59341TRPV4 12 110222127 missense G A PCR or Sanger sequencing 0.7126 deleterious
AutG80724ACAD10 12 112187030 missense G T PCR or Sanger sequencing 0.5747 deleterious
AutG53373TPCN1 12 113715195 intron AG A strong
AutG4842NOS1 12 117657987 missense C T PCR or Sanger sequencing 0.7719 deleterious
AutG51347TAOK3 12 118610267 missense G A PCR or Sanger sequencing 0.026 neutral
AutG51367POP5 12 121017378 frame-shift CT C PCR or Sanger sequencing
AutG5027P2RX7 12 121603240 missense C T PCR or Sanger sequencing 0.8809 deleterious
AutG254050LRRC43 12 122685163 missense A G strong 0.0111 neutral
AutG254050LRRC43 12 122685164 missense A G strong 0.0144 neutral
AutG196383RILPL2 12 123920711 missense A G PCR or Sanger sequencing 0.6553 deleterious
AutG9612NCOR2 12 124831242 synonymous C T PCR or Sanger sequencing
AutG9612NCOR2 12 124887010 missense T C PCR or Sanger sequencing 0.869 deleterious
AutG5901RAN 12 131359121 missense C T strong 0.6098 deleterious
AutG192111PGAM5 12 133297372 synonymous G A PCR or Sanger sequencing
AutG7278TUBA3C 13 19748039 synonymous G A strong
AutG26278SACS 13 23914892 missense C G PCR or Sanger sequencing 0.7641 deleterious
AutG26960NBEA 13 35883758 intron A G strong
AutG26960NBEA 13 36129146 nonsense C T PCR or Sanger sequencing
CCDC169-SOHLH2 13 36764150 missense A C PCR or Sanger sequencing
AutG160851DGKH 13 42733479 missense G A PCR or Sanger sequencing 0.0245 neutral
AutG26512INTS6 13 51969635 intron A G strong
AutG7347UCHL3 13 76140825 intron T A strong
AutG4008LMO7 13 76393648 synonymous G A strong
AutG64062RBM26 13 79979891 missense T C PCR or Sanger sequencing 0.2519 neutral
AutG26050SLITRK5 13 88327810 missense A G PCR or Sanger sequencing 0.9824 deleterious
AutG9375TM9SF2 13 100207823 synonymous A G PCR or Sanger sequencing
AutG6555SLC10A2 13 103698629 intron ACAGT A strong
AutG3916LAMP1 13 113965016 intron T C strong
AutG29986SLC39A2 14 21469087 intron C A strong
AutG26686OR4E2 14 22133429 missense A G PCR or Sanger sequencing 0.346 neutral
AutG8906AP1G2 14 24033756 intron C G strong
AutG1690COCH 14 31359000 3'UTR G A strong
AutG25831HECTD1 14 31613330 frame-shift G GT PCR or Sanger sequencing
AutG11177BAZ1A 14 35227958 synonymous T C PCR or Sanger sequencing
AutG253959RALGAPA1 14 36096327 no-frame-shift TAAG T PCR or Sanger sequencing
AutG54813KLHL28 14 45400640 missense A G PCR or Sanger sequencing 0.9934 deleterious
TMEM260 14 57075985 synonymous A G PCR or Sanger sequencing
AutG9786KIAA0586 14 58895068 missense A G PCR or Sanger sequencing 0.0148 neutral
AutG23002DAAM1 14 59660860 5'UTR-intron T A strong
AutG338917VSX2 14 74711878 missense A G PCR or Sanger sequencing 0.9789 deleterious
AutG56252YLPM1 14 75278299 intron AGCG A strong
AutG2103ESRRB 14 76948978 synonymous G A PCR or Sanger sequencing
IRF2BPL 14 77492033 frame-shift GT G PCR or Sanger sequencing
UNC79 14 94088799 frame-shift AC A PCR or Sanger sequencing
UNC79 14 94153024 intron C G strong
AutG57062DDX24 14 94526572 synonymous G A PCR or Sanger sequencing
AutG57718PPP4R4 14 94674915 intron T A strong
AutG57718PPP4R4 14 94732223 missense A G PCR or Sanger sequencing 0.0185 neutral
AutG55102ATG2B 14 96756895 missense T C PCR or Sanger sequencing 0.194 neutral
AutG55102ATG2B 14 96794738 synonymous T G PCR or Sanger sequencing
AutG7443VRK1 14 97322943 intron G T strong
AutG51466EVL 14 100599090 no-frame-shift GAGA G strong
AutG79446WDR25 14 100996272 missense C T PCR or Sanger sequencing 0.0413 neutral
AutG8788DLK1 14 101200588 synonymous C T PCR or Sanger sequencing
AutG3831KLC1 14 104145901 intron G A strong
AutG23368PPP1R13B 14 104216291 intron AC A strong
AutG113146AHNAK2 14 105414377 missense C G strong 0.001 neutral
AutG113146AHNAK2 14 105414378 synonymous A G strong
AutG122616C14orf79 14 105459275 intron G A strong
AutG256281NUDT14 14 105639351 3'UTR TGGA T strong
AutG2972BRF1 14 105707650 missense G A PCR or Sanger sequencing 0.978 deleterious
AutG54551MAGEL2 15 23890135 synonymous G A PCR or Sanger sequencing
AutG57194ATP10A 15 25924832 missense C T PCR or Sanger sequencing 0.2924 neutral
AutG8924HERC2 15 28369345 synonymous G T PCR or Sanger sequencing
AutG8924HERC2 15 28506003 missense G A PCR or Sanger sequencing 0.4283 neutral
AutG8924HERC2 15 28514517 synonymous A C PCR or Sanger sequencing
AutG4308TRPM1 15 31330304 missense G C PCR or Sanger sequencing 0.476 neutral
AutG90427BMF 15 40398307 5'UTR-intron C T strong
AutG5888RAD51 15 41022135 missense A G PCR or Sanger sequencing 0.8392 deleterious
AutG4058LTK 15 41801298 missense A G PCR or Sanger sequencing 0.8418 deleterious
AutG26015RPAP1 15 41828848 splice-site C A PCR or Sanger sequencing
AutG23005MAPKBP1 15 42105962 synonymous T C PCR or Sanger sequencing
AutG57519STARD9 15 42967936 nonsense C T PCR or Sanger sequencing
AutG57519STARD9 15 43011023 missense G A PCR or Sanger sequencing 0.3513 neutral
AutG2038EPB42 15 43507463 missense C T PCR or Sanger sequencing 0.0206 neutral
AutG116179TGM7 15 43579545 missense C A PCR or Sanger sequencing 0.986 deleterious
AutG80208SPG11 15 44865888 missense C T PCR or Sanger sequencing 0.5083 deleterious
AutG2200FBN1 15 48780431 synonymous G A PCR or Sanger sequencing
AutG9101USP8 15 50786392 missense A G PCR or Sanger sequencing 0.9116 deleterious
AutG23312DMXL2 15 51763583 missense G C PCR or Sanger sequencing 0.0631 neutral
AutG23312DMXL2 15 51778560 intron TCTTA T strong
AutG55930MYO5C 15 52521530 intron A G strong
FAM214A 15 52900800 missense A G PCR or Sanger sequencing 0.5083 deleterious
AutG3175ONECUT1 15 53081003 missense T C PCR or Sanger sequencing 0.9957 deleterious
AutG102ADAM10 15 58971416 missense G A PCR or Sanger sequencing 0.8645 deleterious
AutG4643MYO1E 15 59430484 nonsense G A PCR or Sanger sequencing
AutG4643MYO1E 15 59506918 missense G C strong 0.4755 neutral
AutG83660TLN2 15 62948224 no-frame-shift TTTACTC T strong
AutG9325TRIP4 15 64701913 missense A G PCR or Sanger sequencing 0.9127 deleterious
AutG9187SLC24A1 15 65945118 missense G A PCR or Sanger sequencing 0.9995 deleterious
AutG10260DENND4A 15 65983633 missense A G PCR or Sanger sequencing 0.0406 neutral
AutG64799IQCH 15 67665783 intron T C PCR or Sanger sequencing
AutG80153EDC3 15 74948257 missense A G PCR or Sanger sequencing 0.9216 deleterious
AutG10066SCAMP2 15 75137487 frame-shift GA G PCR or Sanger sequencing
AutG4351MPI 15 75189886 missense G A PCR or Sanger sequencing 0.0545 neutral
AutG25942SIN3A 15 75692422 missense A G PCR or Sanger sequencing 0.888 deleterious
AutG49855SCAPER 15 77020940 missense C T PCR or Sanger sequencing 0.8388 deleterious
AutG3658IREB2 15 78782973 missense A G strong 0.0014 neutral
AutG11173ADAMTS7 15 79089005 no-frame-shift ACTACCAGGGTCT A strong
AutG11057ABHD2 15 89738662 3'UTR G A strong
AutG5428POLG 15 89869940 no-frame-shift ACTCCTC A strong
AutG23336SYNM 15 99670801 missense G A strong
AutG145748LYSMD4 15 100271431 intron G C strong
AutG79705LRRK1 15 101567898 missense G A PCR or Sanger sequencing 0.9294 deleterious
AutG4350MPG 16 129450 synonymous G A PCR or Sanger sequencing
AutG64714PDIA2 16 334569 missense C T PCR or Sanger sequencing 0.71 deleterious
CAPN15 16 601435 intron C T strong
CAPN15 16 601654 missense G A PCR or Sanger sequencing 0.0086 neutral
AutG10273STUB1 16 731512 missense A C strong 0.7975 deleterious
AutG10232MSLN 16 818664 synonymous G A PCR or Sanger sequencing
AutG8912CACNA1H 16 1257375 missense A G PCR or Sanger sequencing 0.9015 deleterious
AutG8938BAIAP3 16 1393190 intron A G strong
AutG84572GNPTG 16 1412838 missense C T PCR or Sanger sequencing 0.7509 deleterious
AutG64718UNKL 16 1453364 intron C T strong
AutG23162MAPK8IP3 16 1756621 missense A G PCR or Sanger sequencing 0.9993 deleterious
AutG197342EME2 16 1825806 missense G A strong 0.0294 neutral
AutG7249TSC2 16 2131695 missense C T PCR or Sanger sequencing 0.4408 deleterious
AutG5310PKD1 16 2160512 synonymous G A PCR or Sanger sequencing
AutG5310PKD1 16 2162839 synonymous T C strong
AutG79228THOC6 16 3077533 intron GAGGCAGGGGTGT G strong
AutG64386MMP25 16 3100426 synonymous G A PCR or Sanger sequencing
AutG84464SLX4 16 3640983 missense C G PCR or Sanger sequencing 0.7692 deleterious
AutG1387CREBBP 16 3786149 missense T C strong 0.2747 neutral
AutG84309NUDT16L1 16 4744147 missense G A PCR or Sanger sequencing 0.2469 neutral
AutG92017SNX29 16 12450055 synonymous C T PCR or Sanger sequencing
AutG57496MKL2 16 14342897 missense T C PCR or Sanger sequencing 0.2337 neutral
AutG23042PDXDC1 16 15100370 missense A G PCR or Sanger sequencing 0.0868 neutral
NDE1 16 15808946 intron G A strong
AutG123879DCUN1D3 16 20873859 noStart A G PCR or Sanger sequencing 0.9717 deleterious
AutG7385UQCRC2 16 21987556 missense A T PCR or Sanger sequencing 0.658 deleterious
AutG84516DCTN5 16 23678493 3'UTR T C PCR or Sanger sequencing
AutG5579PRKCB 16 24105500 missense G A PCR or Sanger sequencing 0.8967 deleterious
AutG162083C16orf82 16 27078590 missense G A PCR or Sanger sequencing 0.0193 neutral
AutG2975GTF3C1 16 27544696 synonymous G A PCR or Sanger sequencing
APOBR 16 28509202 missense A G PCR or Sanger sequencing 0.0061 neutral
AutG25970SH2B1 16 28877932 frame-shift C CG PCR or Sanger sequencing
AutG84901NFATC2IP 16 28965874 intron C T strong
AutG26470SEZ6L2 16 29891363 synonymous G A PCR or Sanger sequencing
AutG3683ITGAL 16 30529129 synonymous C T PCR or Sanger sequencing
AutG64319FBRS 16 30679970 intron T C strong
AutG10847SRCAP 16 30718664 missense G A PCR or Sanger sequencing 0.7286 deleterious
AutG10847SRCAP 16 30745033 frame-shift TGACAGCGACTG T PCR or Sanger sequencing
AutG9739SETD1A 16 30981006 synonymous G A PCR or Sanger sequencing
AutG3687ITGAX 16 31384705 synonymous G A strong
AutG23090ZNF423 16 49672661 synonymous C G PCR or Sanger sequencing
AutG124460SNX20 16 50707926 synonymous T C PCR or Sanger sequencing
AutG2775GNAO1 16 56388838 missense G A PCR or Sanger sequencing 0.4883 deleterious
AutG4324MMP15 16 58071464 missense C G PCR or Sanger sequencing 0.2405 neutral
AutG4324MMP15 16 58079116 synonymous C T PCR or Sanger sequencing
AutG55238SLC38A7 16 58713960 missense C T PCR or Sanger sequencing 0.9623 deleterious
AutG1014CDH16 16 66946506 intron G C strong
EXOC3L1 16 67221481 synonymous C T PCR or Sanger sequencing
AutG6553SLC9A5 16 67304643 missense A G PCR or Sanger sequencing 0.8297 deleterious
AutG80004ESRP2 16 68267732 frame-shift GA G PCR or Sanger sequencing
AutG80004ESRP2 16 68267734 frame-shift AT A PCR or Sanger sequencing
AutG1001CDH3 16 68721498 missense C G PCR or Sanger sequencing 0.2473 neutral
AutG7014TERF2 16 69404384 splice-site A G PCR or Sanger sequencing
AutG11060WWP2 16 69967055 intron T C strong
AutG16AARS 16 70316681 5'UTR C T strong
AutG342372PKD1L3 16 71986760 intron ATAAG A strong
AutG170692ADAMTS18 16 77327129 synonymous C T PCR or Sanger sequencing
AutG55839CENPN 16 81056390 nonsense C T PCR or Sanger sequencing
AutG3294HSD17B2 16 82101873 missense G C PCR or Sanger sequencing 0.939 deleterious
AutG79786KLHL36 16 84695527 missense C T PCR or Sanger sequencing 0.7592 deleterious
AutG55625ZDHHC7 16 85022492 intron A G strong
AutG57338JPH3 16 87678589 missense G A PCR or Sanger sequencing 0.9901 deleterious
AutG84627ZNF469 16 88501044 missense G T PCR or Sanger sequencing 0.8819 deleterious
AutG863CBFA2T3 16 88947174 synonymous C T PCR or Sanger sequencing
AutG27132CPNE7 16 89655160 synonymous G A PCR or Sanger sequencing
AutG2175FANCA 16 89816184 missense C T strong 0.056 neutral
AutG10381TUBB3 16 90001686 missense G A PCR or Sanger sequencing 0.8187 deleterious
AutG750C16orf3 16 90095511 synonymous T A PCR or Sanger sequencing
AutG750C16orf3 16 90095512 missense G T PCR or Sanger sequencing
AutG9501RPH3AL 17 69451 synonymous G A PCR or Sanger sequencing
AutG50628GEMIN4 17 650797 synonymous G A strong
AutG29ABR 17 1003915 missense C T PCR or Sanger sequencing 0.9818 deleterious
AutG26189OR1A2 17 3101296 missense C A PCR or Sanger sequencing 0.4371 neutral
AutG51479ANKFY1 17 4086687 splice-site TCCTA T PCR or Sanger sequencing
AutG50488MINK1 17 4789777 missense T C PCR or Sanger sequencing 0.9973 deleterious
AutG10749KIF1C 17 4905942 intron G A strong
AutG9851KIAA0753 17 6499494 missense C T PCR or Sanger sequencing 0.5525 deleterious
AutG284111SLC13A5 17 6596494 intron AG A strong
AutG239ALOX12 17 6913580 missense C A PCR or Sanger sequencing 0.8358 deleterious
AutG5430POLR2A 17 7388093 missense G T PCR or Sanger sequencing 0.7136 deleterious
AutG146754DNAH2 17 7664160 missense G A PCR or Sanger sequencing 0.012 neutral
AutG146754DNAH2 17 7720741 intron G A strong
AutG9423NTN1 17 9083262 missense C A PCR or Sanger sequencing 0.9875 deleterious
AutG4626MYH8 17 10296398 intron T G strong
ADPRM 17 10614330 missense A G PCR or Sanger sequencing 0.5333 deleterious
AutG10743RAI1 17 17699836 frame-shift AG A PCR or Sanger sequencing
AutG3996LLGL1 17 18137939 intron G A strong
AutG654346LGALS9C 17 18380144 5'UTR T C strong
AutG284123FAM27L 17 21825494 non-coding G A strong
AutG79915ATAD5 17 29167645 missense C G PCR or Sanger sequencing 0.2415 neutral
TEFM 17 29227516 missense C T PCR or Sanger sequencing 0.2384 neutral
AutG4642MYO1D 17 31087364 synonymous G A PCR or Sanger sequencing
AutG3980LIG3 17 33313013 frame-shift CT C PCR or Sanger sequencing
AutG342615SLFN12L 17 33806410 synonymous A G PCR or Sanger sequencing
AutG8148TAF15 17 34171638 no-frame-shift CTATGGTGGAGACAGAAGTGGGGGT C strong
AutG6352CCL5 17 34205584 missense G C PCR or Sanger sequencing 0.6192 deleterious
AutG80179MYO19 17 34862997 intron G T strong
AutG440435GPR179 17 36486981 missense G A PCR or Sanger sequencing 0.1151 neutral
AutG9862MED24 17 38178730 missense C T PCR or Sanger sequencing 0.9423 deleterious
AutG1236CCR7 17 38715177 missense C T strong 0.0046 neutral
AutG81850KRTAP1-3 17 39190953 missense G C strong 0.0093 neutral
AutG81850KRTAP1-3 17 39190954 synonymous G A strong
AutG83901KRTAP9-8 17 39394306 noStart G A PCR or Sanger sequencing 0.1808 neutral
AutG8687KRT38 17 39595033 missense G C PCR or Sanger sequencing 0.3005 neutral
AutG3868KRT16 17 39766665 missense A G PCR or Sanger sequencing 0.9928 deleterious
AutG1267CNP 17 40123912 missense G A PCR or Sanger sequencing 0.0865 neutral
AutG84313VPS25 17 40925870 missense C A PCR or Sanger sequencing 0.8818 deleterious
AutG672BRCA1 17 41244230 synonymous A T PCR or Sanger sequencing
AutG78995C17orf53 17 42225873 synonymous C T PCR or Sanger sequencing
AutG7343UBTF 17 42284918 no-frame-shift ATCCTCG A PCR or Sanger sequencing
AutG3674ITGA2B 17 42451729 missense A G PCR or Sanger sequencing 0.9989 deleterious
AutG124857WFIKKN2 17 48917850 missense C T PCR or Sanger sequencing 0.5383 deleterious
AutG58488PCTP 17 53848508 missense T C PCR or Sanger sequencing 0.9432 deleterious
AutG9241NOG 17 54671662 synonymous C T PCR or Sanger sequencing
AutG8165AKAP1 17 55183771 missense G A strong 0.1224 neutral
AutG54903MKS1 17 56285320 missense G A PCR or Sanger sequencing 0.6952 deleterious
AutG1636ACE 17 61566305 missense A G PCR or Sanger sequencing 0.6385 deleterious
AutG6329SCN4A 17 62029050 missense C T PCR or Sanger sequencing 0.0934 neutral
AutG55852TEX2 17 62272355 nonsense G C PCR or Sanger sequencing
AutG5578PRKCA 17 64685129 synonymous C T PCR or Sanger sequencing
AutG9368SLC9A3R1 17 72759634 synonymous G C PCR or Sanger sequencing
HID1 17 72954572 synonymous A T PCR or Sanger sequencing
AutG10476ATP5H 17 73038261 intron G A strong
AutG9121SLC16A5 17 73096566 missense G A PCR or Sanger sequencing 0.2471 neutral
AutG9772KIAA0195 17 73491637 missense C T PCR or Sanger sequencing
METTL23 17 74729178 noStart TGAA T PCR or Sanger sequencing
AutG57521RPTOR 17 78795992 intron G C strong
AutG9146HGS 17 79662878 synonymous C T PCR or Sanger sequencing
AutG348262FAM195B 17 79782297 intron G A strong
AutG9123SLC16A3 17 80194100 synonymous C T PCR or Sanger sequencing
AutG3607FOXK2 17 80540643 synonymous G C PCR or Sanger sequencing
AutG79755ZNF750 17 80788018 noEnd T G PCR or Sanger sequencing
AutG79755ZNF750 17 80789793 missense C T PCR or Sanger sequencing 0.2192 neutral
AutG23136EPB41L3 18 5398114 missense A G PCR or Sanger sequencing 0.1792 neutral
AutG284217LAMA1 18 7050797 missense G A PCR or Sanger sequencing 0.3161 neutral
AutG11031RAB31 18 9815108 intron T C strong
AutG84617TUBB6 18 12325217 synonymous G C PCR or Sanger sequencing
AutG3909LAMA3 18 21427428 missense C T PCR or Sanger sequencing 0.3486 neutral
AutG57565KLHL14 18 30260416 missense G A strong 0.9887 deleterious
AutG6860SYT4 18 40854059 missense G A PCR or Sanger sequencing 0.0604 neutral
AutG26040SETBP1 18 42532022 missense C G PCR or Sanger sequencing 0.5912 deleterious
AutG11201POLI 18 51795993 missense T C PCR or Sanger sequencing 0.821 deleterious
AutG5205ATP8B1 18 55342226 synonymous G C PCR or Sanger sequencing
AutG5205ATP8B1 18 55342229 synonymous A G PCR or Sanger sequencing
AutG23327NEDD4L 18 55816832 intron T G strong
AutG10194TSHZ1 18 72999663 synonymous G A PCR or Sanger sequencing
AutG8174MADCAM1 19 501831 missense G C PCR or Sanger sequencing 0.0052 neutral
AutG610HCN2 19 615843 missense C G PCR or Sanger sequencing 0.6528 deleterious
AutG10347ABCA7 19 1063613 missense G A PCR or Sanger sequencing 0.9867 deleterious
AutG116541MRPL54 19 3767317 missense C T PCR or Sanger sequencing 0.4495 neutral
AutG23217ZFR2 19 3819169 missense G C PCR or Sanger sequencing 0.9845 deleterious
AutG51588PIAS4 19 4013122 missense C A PCR or Sanger sequencing 0.4429 neutral
AutG51588PIAS4 19 4013176 missense G A PCR or Sanger sequencing 0.1171 neutral
AutG51548SIRT6 19 4177045 intron GCCCCCA G strong
AutG10036CHAF1A 19 4423882 intron G A PCR or Sanger sequencing
AutG80700UBXN6 19 4446075 missense C T PCR or Sanger sequencing 0.1259 neutral
AutG116844LRG1 19 4538513 synonymous G A PCR or Sanger sequencing
AutG29128UHRF1 19 4932922 missense C T PCR or Sanger sequencing
AutG5802PTPRS 19 5216793 intron C CA strong
AutG5802PTPRS 19 5218803 synonymous G A PCR or Sanger sequencing
AutG5802PTPRS 19 5218842 intron G A strong
AutG3643INSR 19 7119480 synonymous G A PCR or Sanger sequencing
CERS4 19 8320764 splice-site G A PCR or Sanger sequencing
AutG256949KANK3 19 8387815 intron A G strong
AutG51129ANGPTL4 19 8434160 missense T G PCR or Sanger sequencing 0.7712 deleterious
AutG84106PRAM1 19 8555752 intron C CT strong
AutG81794ADAMTS10 19 8645777 noEnd CTAGTGGCCA C strong
AutG94025MUC16 19 9060456 missense G T PCR or Sanger sequencing 0.0024 neutral
AutG94025MUC16 19 9084772 missense G C PCR or Sanger sequencing 0.0156 neutral
AutG84527ZNF559 19 9451802 missense A T PCR or Sanger sequencing 0.0067 neutral
AutG147741ZNF560 19 9577895 missense T G PCR or Sanger sequencing 0.0402 neutral
AutG54850FBXL12 19 9921616 missense T C PCR or Sanger sequencing 0.1084 neutral
AutG8666EIF3G 19 10226353 intron T C strong
AutG8666EIF3G 19 10226354 intron G A strong
AutG5141PDE4A 19 10534417 intron T C strong
AutG3949LDLR 19 11218109 missense G A PCR or Sanger sequencing 0.9484 deleterious
AutG1995ELAVL3 19 11577075 missense T A PCR or Sanger sequencing 0.5532 deleterious
AutG199692ZNF627 19 11725441 missense G A PCR or Sanger sequencing 0.8959 deleterious
AutG51710ZNF44 19 12384769 missense C T PCR or Sanger sequencing 0.0336 neutral
AutG65249ZSWIM4 19 13915878 missense G A PCR or Sanger sequencing 0.4985 neutral
AutG66002CYP4F12 19 15794447 synonymous T C strong
AutG9441MED26 19 16687978 synonymous G T PCR or Sanger sequencing
AutG23309SIN3B 19 16973723 missense C T PCR or Sanger sequencing 0.3023 neutral
AutG27151CPAMD8 19 17104231 missense G T PCR or Sanger sequencing 0.0589 neutral
AutG51477ISYNA1 19 18546538 intron CCCCGCG C strong
AutG23373CRTC1 19 18870899 synonymous G C PCR or Sanger sequencing
AutG23373CRTC1 19 18886533 missense C T strong 0.3641 neutral
AutG80714PBX4 19 19680287 missense C T strong 0.9537 deleterious
AutG148213ZNF681 19 23927743 missense A C strong 0.9876 deleterious
AutG1054CEBPG 19 33870437 missense A C PCR or Sanger sequencing 0.7464 deleterious
AutG51599LSR 19 35758697 intron C G strong
AutG374897SBSN 19 36018849 missense G T PCR or Sanger sequencing 0.6889 deleterious
KMT2B 19 36218664 synonymous C T PCR or Sanger sequencing
IGFLR1 19 36230667 missense G A PCR or Sanger sequencing 0.3387 neutral
AutG84807NFKBID 19 36379495 no-frame-shift CTCT C PCR or Sanger sequencing
AutG25850ZNF345 19 37368889 missense T C PCR or Sanger sequencing 0.0002 neutral
AutG83889WDR87 19 38377481 missense T C PCR or Sanger sequencing 0.1467 neutral
AutG199720GGN 19 38876253 missense T G PCR or Sanger sequencing 0.027 neutral
AutG115727RASGRP4 19 38901907 intron C G strong
AutG11184MAP4K1 19 39086584 missense A G PCR or Sanger sequencing 0.5681 deleterious
AutG54938SARS2 19 39406847 intron G A strong
AutG64857PLEKHG2 19 39912757 synonymous C T PCR or Sanger sequencing
AutG6217RPS16 19 39926368 intron CAG C strong
AutG1087CEACAM7 19 42187993 synonymous C T PCR or Sanger sequencing
AutG116115ZNF526 19 42730427 missense G A PCR or Sanger sequencing 0.2065 neutral
AutG5680PSG11 19 43529205 missense A G PCR or Sanger sequencing 0.0568 neutral
AutG57126CD177 19 43864537 missense C T strong
AutG7773ZNF230 19 44513286 frame-shift AT A PCR or Sanger sequencing
AutG9310ZNF235 19 44792636 missense G A PCR or Sanger sequencing 0.8725 deleterious
AutG4059BCAM 19 45322090 synonymous C G PCR or Sanger sequencing
AutG1760DMPK 19 46273858 missense A G PCR or Sanger sequencing 0.0584 neutral
AutG5536PPP5C 19 46893372 missense C T PCR or Sanger sequencing 0.2661 neutral
AutG29997GLTSCR2 19 48255802 frame-shift GCACC G strong
AutG6822SULT2A1 19 48386827 intron C A strong
AutG83743GRWD1 19 48954314 synonymous C T PCR or Sanger sequencing
AutG57664PLEKHA4 19 49351271 synonymous C T PCR or Sanger sequencing
AutG11284PNKP 19 50367560 intron C G strong
AutG3816KLK1 19 51323488 missense C T PCR or Sanger sequencing 0.0423 neutral
AutG79788ZNF665 19 53669453 missense T C PCR or Sanger sequencing 0.0241 neutral
AutG4849CNOT3 19 54647460 missense T C PCR or Sanger sequencing 0.7714 deleterious
AutG11024LILRA1 19 55107336 synonymous C T strong
AutG11024LILRA1 19 55107343 missense T C strong 0.0027 neutral
AutG199713NLRP7 19 55442030 nonsense G A PCR or Sanger sequencing
AutG284297SSC5D 19 56029616 missense C A strong 0.1658 neutral
AutG10794ZNF460 19 57803573 missense T A PCR or Sanger sequencing 0.0506 neutral
AutG400720ZNF772 19 57988620 intron G T strong
AutG348327ZNF530 19 58117413 missense G A strong 0.182 neutral
AutG79673ZNF329 19 58651151 5'UTR-intron A G strong
AutG84878ZBTB45 19 59028486 no-frame-shift TGGG T PCR or Sanger sequencing
AutG140680C20orf96 20 259956 missense C A PCR or Sanger sequencing 0.0396 neutral
AutG7053TGM3 20 2321207 missense T C PCR or Sanger sequencing 0.1609 neutral
AutG116835HSPA12B 20 3729976 intron A G strong
AutG182JAG1 20 10653553 synonymous C T PCR or Sanger sequencing
AutG51575ESF1 20 13750531 intron A AG strong
AutG57419SLC24A3 20 19664943 missense C G PCR or Sanger sequencing 0.9948 deleterious
AutG84532ACSS1 20 24993472 synonymous C A PCR or Sanger sequencing
AutG22981NINL 20 25459809 nonsense T A PCR or Sanger sequencing
AutG2307FOXS1 20 30432906 missense G A PCR or Sanger sequencing 0.5142 deleterious
AutG9777TM9SF4 20 30732948 missense C T PCR or Sanger sequencing 0.1803 neutral
AutG171023ASXL1 20 30959942 intron A T strong
AutG83737ITCH 20 33037307 intron A G strong
AutG2686GGT7 20 33449275 missense C A PCR or Sanger sequencing 0.052 neutral
AutG51614ERGIC3 20 34130278 missense A G PCR or Sanger sequencing 0.8567 deleterious
AutG10137RBM12 20 34243229 missense G A PCR or Sanger sequencing 0.0185 neutral
AutG9584RBM39 20 34309816 intron A G strong
AutG9584RBM39 20 34313085 intron G C strong
AutG57148RALGAPB 20 37150314 missense A G PCR or Sanger sequencing 0.933 deleterious
AutG84181CHD6 20 40143580 missense C T PCR or Sanger sequencing 0.7992 deleterious
AutG11317RBPJL 20 43942709 synonymous G A PCR or Sanger sequencing
AutG4318MMP9 20 44639765 intron C T strong
AutG55959SULF2 20 46292275 missense T C strong 0.5254 deleterious
AutG57167SALL4 20 50407792 synonymous G A PCR or Sanger sequencing
AutG11047ADRM1 20 60883795 frame-shift AGG A strong
AutG1917EEF1A2 20 62120390 missense C T PCR or Sanger sequencing 0.8102 deleterious
HELZ2 20 62198437 synonymous G A PCR or Sanger sequencing
AutG7179TPTE 21 10908913 intron T A strong
AutG8204NRIP1 21 16338241 missense T A PCR or Sanger sequencing 0.6433 deleterious
AutG2897GRIK1 21 30959815 missense A G PCR or Sanger sequencing 0.9735 deleterious
AutG7074TIAM1 21 32869814 5'UTR-intron G A strong
AutG9875URB1 21 33757868 nonsense G A PCR or Sanger sequencing
AutG150084IGSF5 21 41137773 missense G A PCR or Sanger sequencing 0.2003 neutral
AutG1826DSCAM 21 41414330 frame-shift A AT PCR or Sanger sequencing
AutG1826DSCAM 21 41457640 frame-shift T TTA PCR or Sanger sequencing
ZBTB21 21 43412590 missense C T PCR or Sanger sequencing 0.7605 deleterious
AutG10785WDR4 21 44272360 intron C T strong
AutG4731NDUFV3 21 44323370 missense C T PCR or Sanger sequencing 0.4547 neutral
AutG150094SIK1 21 44839867 missense A T strong 0.9988 deleterious
AutG150094SIK1 21 44840121 missense G A PCR or Sanger sequencing 0.8875 deleterious
AutG5211PFKL 21 45742909 frame-shift C CT PCR or Sanger sequencing
AutG755C21orf2 21 45750792 nonsense G A PCR or Sanger sequencing
AutG386679KRTAP10-2 21 45971357 5'UTR A C strong
AutG386680KRTAP10-5 21 46000044 missense G A strong 0.3197 neutral
AutG386680KRTAP10-5 21 46000045 synonymous C T strong
AutG642852LOC642852 21 46714226 non-coding C T strong
AutG4047LSS 21 47641795 nonsense G A PCR or Sanger sequencing
AutG5116PCNT 21 47754471 missense G A strong 0.0005 neutral
AutG5116PCNT 21 47860001 synonymous G A PCR or Sanger sequencing
AutG23617TSSK2 22 19119619 missense C T PCR or Sanger sequencing 0.9496 deleterious
AutG421ARVCF 22 19965564 nonsense G A PCR or Sanger sequencing
AutG406961MIR185 22 20020667 non-coding G A strong
AutG6545SLC7A4 22 21385337 synonymous G A PCR or Sanger sequencing
AutG8940TOP3B 22 22328718 intron GA G strong
AutG96610LOC96610 22 22677176 non-coding T C strong
AutG96610LOC96610 22 22677176 non-coding T C strong
AutG96610LOC96610 22 22677176 non-coding T C strong
AutG96610LOC96610 22 22677176 non-coding T C strong
AutG96610LOC96610 22 22677176 non-coding T C strong
AutG96610LOC96610 22 22677182 non-coding C A strong
AutG96610LOC96610 22 22677182 non-coding C A strong
AutG96610LOC96610 22 22677182 non-coding C A strong
AutG100423062IGLL5 22 23235930 missense G A PCR or Sanger sequencing 0.0837 neutral
AutG3543IGLL1 22 23917192 missense G T strong 0.0133 neutral
AutG129049SGSM1 22 25246264 missense G T PCR or Sanger sequencing 0.3547 neutral
AutG157ADRBK2 22 26118282 missense G C PCR or Sanger sequencing 0.641 deleterious
AutG23331TTC28 22 28395403 intron A G strong
AutG4744NEFH 22 29884893 missense C G PCR or Sanger sequencing 0.1959 neutral
AutG9215LARGE 22 34009951 intron G A strong
TEX33 22 37398011 missense G A PCR or Sanger sequencing 0.0149 neutral
AutG84645C22orf23 22 38340530 intron C G strong
AutG11144DMC1 22 38917681 synonymous A G PCR or Sanger sequencing
AutG57591MKL1 22 40816525 missense T C PCR or Sanger sequencing 0.0018 neutral
AutG6767ST13 22 41231637 missense G C PCR or Sanger sequencing 0.0257 neutral
AutG6721SREBF2 22 42299006 synonymous G A PCR or Sanger sequencing
AutG80274SCUBE1 22 43607047 missense C T PCR or Sanger sequencing 0.9126 deleterious
AutG25813SAMM50 22 44364589 intron T G strong
AutG25813SAMM50 22 44372025 nonsense C T PCR or Sanger sequencing
AutG7477WNT7B 22 46372611 nonsense C T PCR or Sanger sequencing
CDPF1 22 46643133 intron A T strong
CDPF1 22 46643134 intron T G strong
CDPF1 22 46643135 intron G C strong
AutG80305TRABD 22 50633461 missense G A PCR or Sanger sequencing 0.4721 deleterious
AutG23654PLXNB2 22 50727283 missense A C PCR or Sanger sequencing 0.0067 neutral
AutG9701PPP6R2 22 50857408 missense C T PCR or Sanger sequencing 0.5368 deleterious
AutG293SLC25A6 X 1508377 frame-shift A AG PCR or Sanger sequencing
AutG425054VCX3B X 8434419 missense G A strong 0.0869 neutral
AutG55787TXLNG X 16847829 missense A T PCR or Sanger sequencing 0.4665 deleterious
AutG256643CXorf23 X 19947974 missense G A PCR or Sanger sequencing 0.1347 neutral
AutG170302ARX X 25031277 missense C T PCR or Sanger sequencing 0.048 neutral
CHDC2 X 36116898 intron TTTTAA T strong
AutG7102TSPAN7 X 38420765 5'UTR T TGCC strong
AutG8239USP9X X 41025217 missense A T PCR or Sanger sequencing 0.9798 deleterious
AutG8237USP11 X 47100661 intron C T strong
AutG6839SUV39H1 X 48555155 5'UTR T A strong
AutG4007PRICKLE3 X 49032285 missense G A PCR or Sanger sequencing 0.0515 neutral
AutG4007PRICKLE3 X 49034380 missense C T PCR or Sanger sequencing 0.1997 neutral
AutG28952CCDC22 X 49105278 missense A C PCR or Sanger sequencing 0.0074 neutral
AutG85417CCNB3 X 50085212 missense G T PCR or Sanger sequencing 0.938 deleterious
AutG23133PHF8 X 54037669 missense G A PCR or Sanger sequencing 0.0974 neutral
AutG7216TRO X 54949846 missense C T PCR or Sanger sequencing 0.024 neutral
AutG5207PFKFB1 X 54978349 missense G A strong 0.6017 deleterious
AutG367AR X 66943674 synonymous C T PCR or Sanger sequencing
AutG347516DGAT2L6 X 69421748 missense C T PCR or Sanger sequencing 0.6812 deleterious
AutG54413NLGN3 X 70375069 missense C T PCR or Sanger sequencing 0.9292 deleterious
AutG54413NLGN3 X 70389790 missense G A PCR or Sanger sequencing 0.997 deleterious
AutG645974PABPC1L2B X 72223742 frame-shift CG C strong
AutG340529PABPC1L2A X 72298960 frame-shift AC A strong
AutG50945TBX22 X 79277939 synonymous G T PCR or Sanger sequencing
AutG50945TBX22 X 79279657 missense G A PCR or Sanger sequencing 0.9667 deleterious
AutG203447NRK X 105190409 missense A G PCR or Sanger sequencing 0.268 neutral
AutG92129RIPPLY1 X 106145431 nonsense C T PCR or Sanger sequencing
AutG643311CT47B1 X 120009146 missense G T strong 0.1862 neutral
AutG139170DCAF12L1 X 125685718 missense C T PCR or Sanger sequencing 0.0019 neutral
AutG7512XPNPEP2 X 128894535 synonymous C T PCR or Sanger sequencing
AutG347468OR13H1 X 130678860 synonymous G A strong
AutG8933FAM127A X 134167161 3'UTR G A strong
AutG55511SAGE1 X 134988656 missense C T PCR or Sanger sequencing 0.106 neutral
AutG286410ATP11C X 138864752 missense T A PCR or Sanger sequencing 0.7901 deleterious
AutG9947MAGEC1 X 140994381 missense C G strong 0.0001 neutral
AutG4107MAGEA8 X 149013698 missense C T PCR or Sanger sequencing 0.0029 neutral
AutG139135PASD1 X 150842415 synonymous G A PCR or Sanger sequencing
AutG4102MAGEA3 X 151935240 missense C A strong 0.1146 neutral
AutG4102MAGEA3 X 151935244 missense A G strong 0.0026 neutral
AutG6535SLC6A8 X 152959900 synonymous C T strong
AutG5956OPN1LW X 153416315 synonymous A G strong
AutG139716GAB3 X 153908482 missense G A PCR or Sanger sequencing 0.0848 neutral
AutG2157F8 X 154227738 intron A G strong

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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