Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-43748027-T-A p.Pro1906Pro synonymous ADAMTS20 1 81896 1.22106E-5 40948 0 NA
12-43748040-G-A p.Thr1902Ile missense ADAMTS20 5 82044 6.09429E-5 41022 0 1.41878E-4
12-43748045-G-A p.His1900His synonymous ADAMTS20 1 82046 1.21883E-5 41023 0 NA
12-43748057-C-A p.Lys1896Asn missense ADAMTS20 1 82080 1.21832E-5 41040 0 NA
12-43748083-C-T p.Gly1888Ser missense ADAMTS20 10 81890 1.22115E-4 40945 0 6.5456E-5
12-43748095-T-A p.Thr1884Ser missense ADAMTS20 2 81800 2.44499E-5 40900 0 3.39997E-5
12-43748105-A-C c.5644-4T>G splice_region ADAMTS20 1 81610 1.22534E-5 40805 0 NA
12-43750282-C-T c.5643+5G>A splice_region ADAMTS20 2 81814 2.44457E-5 40907 0 NA
12-43750297-C-G p.Arg1878Pro missense ADAMTS20 1 81938 1.22043E-5 40969 0 NA
12-43750297-C-T p.Arg1878Gln missense ADAMTS20 1 81938 1.22043E-5 40969 0 4.63636E-5
12-43750298-G-A p.Arg1878* stop_gained ADAMTS20 5 81952 6.10113E-5 40976 0 4.51698E-5
12-43750300-A-C p.Ile1877Arg missense ADAMTS20 3 81998 3.65863E-5 40999 0 2.48348E-5
12-43750301-T-C p.Ile1877Val missense ADAMTS20 3 82028 3.65729E-5 41014 0 NA
12-43750339-G-A p.Ala1864Val missense ADAMTS20 2 82264 2.4312E-5 41132 0 NA
12-43750349-A-T p.Ser1861Thr missense ADAMTS20 20 82256 2.43143E-4 41128 0 0.001875
12-43750349-A-G p.Ser1861Pro missense ADAMTS20 1 82256 1.21572E-5 41128 0 1.27372E-4
12-43750351-A-G p.Ile1860Thr missense ADAMTS20 2 82244 2.43179E-5 41122 0 3.18512E-5
12-43750359-C-A p.Gly1857Gly synonymous ADAMTS20 2 82246 2.43173E-5 41123 0 NA
12-43750362-A-G p.Thr1856Thr synonymous ADAMTS20 1 82240 1.21595E-5 41120 0 4.21496E-5
12-43750363-G-T p.Thr1856Asn missense ADAMTS20 1 82226 1.21616E-5 41113 0 NA
12-43750375-T-C p.Asn1852Ser missense ADAMTS20 97 82164 0.00118057 41082 1 0.00159246
12-43750395-G-T c.5539-4C>A splice_region ADAMTS20 4 81882 4.88508E-5 40941 0 3.18695E-5
12-43763085-T-C c.5538+8A>G splice_region ADAMTS20 1 78424 1.27512E-5 39212 0 2.72124E-5
12-43763100-C-T p.Cys1844Tyr missense ADAMTS20 2 79030 2.53068E-5 39515 0 1.13275E-5
12-43763124-C-T p.Gly1836Glu missense ADAMTS20 1 79968 1.2505E-5 39984 0 1.46224E-5
12-43763134-C-T p.Ala1833Thr missense ADAMTS20 1 80190 1.24704E-5 40095 0 NA
12-43763144-T-C p.Ala1829Ala synonymous ADAMTS20 46 80368 5.72367E-4 40184 2 0.00127632
12-43763152-C-T p.Gly1827Arg missense ADAMTS20 3 80116 3.74457E-5 40058 0 1.91256E-5
12-43763165-G-C p.Ser1822Ser synonymous ADAMTS20 1 79572 1.25672E-5 39786 0 NA
12-43763166-G-C p.Ser1822Cys missense ADAMTS20 1 79590 1.25644E-5 39795 0 NA
12-43763172-A-C p.Leu1820Arg missense ADAMTS20 2 79466 2.5168E-5 39733 0 NA
12-43763175-A-G p.Leu1819Pro missense ADAMTS20 2 79376 2.51965E-5 39688 0 5.69022E-6
12-43763180-C-T p.Thr1817Thr synonymous ADAMTS20 3 79006 3.79718E-5 39503 0 3.22211E-5
12-43763181-G-A p.Thr1817Met missense ADAMTS20 9 79062 1.13835E-4 39531 0 9.59386E-5
12-43769185-TA-CT p.IleLys1814IleGlu missense ADAMTS20 1 82644 1.21001E-5 41322 0 NA
12-43769191-G-T p.Gln1813Lys missense ADAMTS20 1 82658 1.2098E-5 41329 0 2.48752E-5
12-43769193-A-G p.Met1812Thr missense ADAMTS20 1 82674 1.20957E-5 41337 0 3.18532E-5
12-43769194-T-A p.Met1812Leu missense ADAMTS20 1 82670 1.20963E-5 41335 0 NA
12-43769200-TGA-T p.Leu1809fs frameshift ADAMTS20 2 82674 2.41914E-5 41337 0 3.18512E-5
12-43769201-G-A p.Leu1809Leu synonymous ADAMTS20 3 82670 3.62889E-5 41335 0 8.2631E-6
12-43769205-T-C p.Asp1808Gly missense ADAMTS20 1 82670 1.20963E-5 41335 0 NA
12-43769222-G-T p.Phe1802Leu missense ADAMTS20 1 82690 1.20934E-5 41345 0 NA
12-43769228-A-C p.Thr1800Thr synonymous ADAMTS20 18514 82298 0.224963 41149 2159 0.260322
12-43769233-A-G p.Tyr1799His missense ADAMTS20 3 82696 3.62775E-5 41348 0 1.19491E-5
12-43769234-T-A p.Gly1798Gly synonymous ADAMTS20 13 82700 1.57195E-4 41350 3 6.25E-4
12-43769244-A-G p.Leu1795Ser missense ADAMTS20 5 82710 6.04522E-5 41355 0 3.29636E-5
12-43769263-C-G p.Glu1789Gln missense ADAMTS20 4 82718 4.83571E-5 41359 0 1.59256E-4
12-43769273-C-A p.Arg1785Ser missense ADAMTS20 1 82724 1.20884E-5 41362 0 3.98333E-6
12-43769276-T-C p.Arg1784Arg synonymous ADAMTS20 18619 82446 0.225833 41223 2183 0.260826
12-43769285-A-T p.Asn1781Lys missense ADAMTS20 1 82694 1.20928E-5 41347 0 3.1839E-5
12-43769297-T-C p.Gln1777Gln synonymous ADAMTS20 1 82662 1.20975E-5 41331 0 6.25E-4
12-43769304-G-A p.Pro1775Leu missense ADAMTS20 1 82658 1.2098E-5 41329 0 NA
12-43769307-T-C p.Asn1774Ser missense ADAMTS20 26 82638 3.14625E-4 41319 0 0.00101891
12-43769308-T-G p.Asn1774His missense ADAMTS20 5 82632 6.05092E-5 41316 0 8.239E-6
12-43769852-T-C c.5312+8A>G splice_region ADAMTS20 1 82158 1.21717E-5 41079 0 1.44576E-5
12-43769853-C-G c.5312+7G>C splice_region ADAMTS20 18 82174 2.19047E-4 41087 0 0.00258658
12-43769856-G-A c.5312+4C>T splice_region ADAMTS20 1 82184 1.21678E-5 41092 0 3.18735E-5
12-43769865-G-A p.Gly1769Gly synonymous ADAMTS20 1 82320 1.21477E-5 41160 0 NA
12-43769868-A-G p.Tyr1768Tyr synonymous ADAMTS20 4 82344 4.85767E-5 41172 0 7.54508E-5
12-43769906-T-C p.Thr1756Ala missense ADAMTS20 2 82444 2.42589E-5 41222 0 4.06012E-6
12-43769918-T-C p.Lys1752Glu missense ADAMTS20 1 82462 1.21268E-5 41231 0 NA
12-43769921-G-A p.Pro1751Ser missense ADAMTS20 5 82450 6.06428E-5 41225 0 1.09367E-4
12-43769921-G-T p.Pro1751Thr missense ADAMTS20 1 82452 1.21283E-5 41226 0 4.86074E-5
12-43769921-G-C p.Pro1751Ala missense ADAMTS20 4 82452 4.85131E-5 41226 0 1.59327E-4
12-43769927-C-G p.Glu1749Gln missense ADAMTS20 11 82438 1.33434E-4 41219 0 1.50365E-4
12-43769933-ACATGTCTG-A p.Ala1744fs frameshift ADAMTS20 1 82426 1.21321E-5 41213 0 1.33067E-5
12-43769949-A-C p.Ile1741Met missense+splice_region ADAMTS20 1 82350 1.21433E-5 41175 0 3.1837E-5
12-43770032-A-G c.5220+7T>C splice_region ADAMTS20 3 82176 3.6507E-5 41088 0 3.64325E-5
12-43770038-C-T c.5220+1G>A splice_donor ADAMTS20 1 82172 1.21696E-5 41086 0 NA
12-43770046-A-C p.Ile1738Arg missense ADAMTS20 103 82192 0.00125316 41096 3 9.3654E-4
12-43770050-T-G p.Arg1737Arg synonymous ADAMTS20 2 82224 2.43238E-5 41112 0 1.65673E-4
12-43770064-A-C p.Leu1732Arg missense ADAMTS20 1 82210 1.2164E-5 41105 0 NA
12-43770070-T-C p.Tyr1730Cys missense ADAMTS20 2 82230 2.4322E-5 41115 0 NA
12-43770072-G-A p.Asp1729Asp synonymous ADAMTS20 1 82240 1.21595E-5 41120 0 5.90919E-6
12-43770087-A-G p.Ile1724Ile synonymous ADAMTS20 3 82238 3.64795E-5 41119 0 1.77702E-5
12-43770091-T-C p.His1723Arg missense ADAMTS20 1 82236 1.21601E-5 41118 0 3.82936E-5
12-43770092-G-A p.His1723Tyr missense ADAMTS20 1 82228 1.21613E-5 41114 0 NA
12-43770095-T-G p.Asn1722His missense ADAMTS20 2 82232 2.43214E-5 41116 0 3.18451E-5
12-43770132-A-G p.Cys1709Cys splice_region+synonymous ADAMTS20 1 82108 1.21791E-5 41054 0 4.46662E-5
12-43770133-C-T p.Cys1709Tyr missense+splice_region ADAMTS20 18 82096 2.19256E-4 41048 0 0.00102249
12-43770140-A-C c.5126-7T>G splice_region ADAMTS20 2 82042 2.43778E-5 41021 0 NA
12-43770319-C-G c.5125+8G>C splice_region ADAMTS20 1 82224 1.21619E-5 41112 0 NA
12-43770331-A-G p.Asn1707Asn synonymous ADAMTS20 6 82368 7.28438E-5 41184 0 9.55353E-5
12-43770356-C-A p.Gly1699Val missense ADAMTS20 2 82506 2.42407E-5 41253 0 0.00100705
12-43770360-G-A p.Pro1698Ser missense ADAMTS20 1 82514 1.21192E-5 41257 0 NA
12-43770379-T-G p.Leu1691Phe missense ADAMTS20 1 82564 1.21118E-5 41282 0 3.1839E-5
12-43770400-T-G p.Lys1684Asn missense ADAMTS20 1 82552 1.21136E-5 41276 0 1.9947E-5
12-43770409-G-A p.Cys1681Cys synonymous ADAMTS20 1 82552 1.21136E-5 41276 0 2.48402E-5
12-43770437-A-G p.Ile1672Thr missense ADAMTS20 30 82502 3.63628E-4 41251 0 4.45888E-4
12-43771163-C-T c.4995+5G>A splice_region ADAMTS20 3 82602 3.63187E-5 41301 0 9.40607E-5
12-43771163-C-G c.4995+5G>C splice_region ADAMTS20 8 82602 9.685E-5 41301 0 2.54826E-4
12-43771164-C-T c.4995+4G>A splice_region ADAMTS20 1 82598 1.21068E-5 41299 0 9.20617E-5
12-43771165-G-A c.4995+3C>T splice_region ADAMTS20 3 82606 3.6317E-5 41303 0 5.0045E-5
12-43771176-A-C p.Trp1663Gly missense ADAMTS20 4 82688 4.83746E-5 41344 0 1.27689E-4
12-43771176-A-G p.Trp1663Arg missense ADAMTS20 1 82690 1.20934E-5 41345 0 NA
12-43771186-T-A p.Lys1659Asn missense ADAMTS20 4 82706 4.83641E-5 41353 0 NA
12-43771197-C-T p.Ala1656Thr missense ADAMTS20 1 82730 1.20875E-5 41365 0 NA
12-43771211-C-G p.Ser1651Thr missense ADAMTS20 1 82738 1.20863E-5 41369 0 NA
12-43771220-C-A p.Cys1648Phe missense ADAMTS20 1 82754 1.2084E-5 41377 0 NA
12-43771221-A-G p.Cys1648Arg missense ADAMTS20 1 82750 1.20846E-5 41375 0 3.18512E-5
12-43771235-G-C p.Ser1643Cys missense ADAMTS20 2 82774 2.41622E-5 41387 0 NA
12-43771240-AG-A p.Pro1641fs frameshift ADAMTS20 1 82778 1.20805E-5 41389 0 NA
12-43771248-C-T p.Val1639Met missense ADAMTS20 1 82770 1.20817E-5 41385 0 3.58829E-5
12-43771252-G-A p.Cys1637Cys synonymous ADAMTS20 1 82770 1.20817E-5 41385 0 NA
12-43771268-A-G p.Ile1632Thr missense ADAMTS20 4 82774 4.83244E-5 41387 0 6.36943E-5
12-43771273-C-A p.Arg1630Arg synonymous ADAMTS20 1 82754 1.2084E-5 41377 0 5.57804E-5
12-43771274-C-T p.Arg1630Gln missense ADAMTS20 2 82762 2.41657E-5 41381 0 3.18695E-5
12-43771275-G-A p.Arg1630Trp missense ADAMTS20 9 82756 1.08753E-4 41378 0 6.37227E-5
12-43771278-GTCGATGGAGCTTATGTTTCTTAGTAGATGGGA-G p.Ile1618fs frameshift ADAMTS20 1 82752 1.20843E-5 41376 0 3.98378E-6
12-43771280-C-T p.Arg1628Gln missense ADAMTS20 1 82740 1.20861E-5 41370 0 2.50079E-4
12-43771281-G-A p.Arg1628* stop_gained ADAMTS20 3 82742 3.62573E-5 41371 0 3.98381E-5
12-43771286-A-C p.Leu1626Arg missense ADAMTS20 5 82744 6.04273E-5 41372 0 NA
12-43771292-T-C p.His1624Arg missense ADAMTS20 3 82736 3.62599E-5 41368 0 NA
12-43771299-T-C p.Lys1622Glu missense ADAMTS20 1 82732 1.20872E-5 41366 0 NA
12-43771302-T-C p.Thr1621Ala missense ADAMTS20 7 82734 8.46085E-5 41367 0 9.55414E-5
12-43771305-A-G p.Ser1620Pro missense ADAMTS20 2 82738 2.41727E-5 41369 0 NA
12-43771307-G-A p.Pro1619Leu missense ADAMTS20 1 82734 1.20869E-5 41367 0 3.18707E-5
12-43771308-G-A p.Pro1619Ser missense ADAMTS20 1 82732 1.20872E-5 41366 0 NA
12-43771314-C-T p.Glu1617Lys missense ADAMTS20 3 82706 3.62731E-5 41353 0 1.99227E-5
12-43771315-G-A p.Thr1616Thr synonymous ADAMTS20 15 82702 1.81374E-4 41351 0 1.41785E-4
12-43771323-A-G p.Tyr1614His missense ADAMTS20 1 82672 1.2096E-5 41336 0 8.35855E-6
12-43771326-T-C p.Thr1613Ala missense ADAMTS20 8 82664 9.67773E-5 41332 0 6.37024E-5
12-43771332-T-C p.Arg1611Gly missense ADAMTS20 1 82660 1.20978E-5 41330 0 NA
12-43771339-G-A p.Tyr1608Tyr synonymous ADAMTS20 1 82620 1.21036E-5 41310 0 NA
12-43771348-T-C p.Gly1605Gly synonymous ADAMTS20 1 82584 1.21089E-5 41292 0 NA
12-43771353-A-G p.Cys1604Arg missense ADAMTS20 2 82584 2.42178E-5 41292 0 6.36943E-5
12-43771355-T-C p.Asn1603Ser missense ADAMTS20 1 82554 1.21133E-5 41277 0 NA
12-43771362-C-T p.Ala1601Thr missense ADAMTS20 200 82498 0.0024243 41249 1 0.00490821
12-43777355-C-T c.4797+6G>A splice_region ADAMTS20 2 82174 2.43386E-5 41087 0 3.18492E-5
12-43777365-G-A p.Ser1598Leu missense ADAMTS20 1 82248 1.21584E-5 41124 0 NA
12-43777387-T-G p.Ile1591Leu missense ADAMTS20 2 82368 2.42813E-5 41184 0 8.4786E-6
12-43777387-T-C p.Ile1591Val missense ADAMTS20 1 82368 1.21406E-5 41184 0 NA
12-43777397-A-C p.Pro1587Pro synonymous ADAMTS20 1 82450 1.21286E-5 41225 0 3.18492E-5
12-43777403-G-C p.Asn1585Lys missense ADAMTS20 1 82468 1.21259E-5 41234 0 NA
12-43777421-T-A p.Thr1579Thr synonymous ADAMTS20 2 82566 2.4223E-5 41283 0 NA
12-43777426-G-C p.Leu1578Val missense ADAMTS20 9 82578 1.08988E-4 41289 0 3.50408E-4
12-43777428-G-A p.Ser1577Phe missense ADAMTS20 1 82600 1.21065E-5 41300 0 NA
12-43777446-T-G p.Tyr1571Ser missense ADAMTS20 1 82654 1.20986E-5 41327 0 NA
12-43777450-C-A p.Val1570Phe missense ADAMTS20 2 82656 2.41967E-5 41328 0 1.40976E-4
12-43777456-C-G p.Glu1568Gln missense ADAMTS20 1 82674 1.20957E-5 41337 0 NA
12-43777457-A-G p.Asn1567Asn synonymous ADAMTS20 1 82676 1.20954E-5 41338 0 NA
12-43777458-T-C p.Asn1567Ser missense ADAMTS20 1 82674 1.20957E-5 41337 0 8.28267E-6
12-43777458-T-A p.Asn1567Ile missense ADAMTS20 1 82674 1.20957E-5 41337 0 3.98518E-6
12-43777461-A-G p.Val1566Ala missense ADAMTS20 3 82688 3.6281E-5 41344 0 1.19557E-5
12-43777471-T-C p.Ile1563Val missense ADAMTS20 1 82702 1.20916E-5 41351 0 5.03525E-4
12-43777482-G-A p.Thr1559Ile missense ADAMTS20 2 82724 2.41768E-5 41362 0 NA
12-43777484-G-A p.Cys1558Cys synonymous ADAMTS20 202 82716 0.00244209 41358 2 0.00490477
12-43777485-C-T p.Cys1558Tyr missense ADAMTS20 4 82716 4.83582E-5 41358 0 1.19544E-5
12-43777491-A-G p.Met1556Thr missense ADAMTS20 2 82712 2.41803E-5 41356 0 3.1837E-5
12-43777499-A-C p.His1553Gln missense ADAMTS20 1 82720 1.2089E-5 41360 0 NA
12-43777509-T-G p.Lys1550Thr missense ADAMTS20 1 82708 1.20907E-5 41354 0 3.18451E-5
12-43777514-C-G p.Glu1548Asp missense ADAMTS20 4 82696 4.83699E-5 41348 0 8.26119E-6
12-43777522-A-G p.Ser1546Pro missense ADAMTS20 33 82692 3.99071E-4 41346 0 1.75462E-4
12-43777603-T-C c.4626+4A>G splice_region ADAMTS20 8 82636 9.68101E-5 41318 0 NA
12-43777605-A-ACATTCAGC c.4626+1_4626+2insGCTGAATG splice_donor ADAMTS20 3 82646 3.62994E-5 41323 0 1.27372E-4
12-43777610-C-A p.Leu1541Leu synonymous ADAMTS20 1 82652 1.20989E-5 41326 0 9.90132E-5
12-43777616-C-T p.Gly1539Gly synonymous ADAMTS20 2 82670 2.41926E-5 41335 0 1.19653E-5
12-43777630-C-A p.Gly1535Trp missense ADAMTS20 42 82662 5.08093E-4 41331 0 0.00167343
12-43777660-A-G p.Cys1525Arg missense ADAMTS20 1 82642 1.21004E-5 41321 0 NA
12-43777663-G-A p.Arg1524* stop_gained ADAMTS20 3 82618 3.63117E-5 41309 0 2.78909E-5
12-43777665-C-T p.Arg1523Lys missense ADAMTS20 1 82614 1.21045E-5 41307 0 NA
12-43777669-G-A p.Gln1522* stop_gained ADAMTS20 2 82612 2.42096E-5 41306 0 NA
12-43777679-T-C p.Arg1518Arg synonymous ADAMTS20 1 82600 1.21065E-5 41300 0 NA
12-43777680-C-T p.Arg1518Gln missense ADAMTS20 1 82604 1.2106E-5 41302 0 6.37064E-5
12-43777681-G-A p.Arg1518* stop_gained ADAMTS20 5 82600 6.05327E-5 41300 0 4.94454E-5
12-43777709-C-A p.Val1508Val synonymous ADAMTS20 1 82616 1.21042E-5 41308 0 NA
12-43777724-T-G p.Lys1503Asn missense ADAMTS20 1 82648 1.20995E-5 41324 0 1.64948E-5
12-43777732-T-G p.Arg1501Arg synonymous ADAMTS20 4 82652 4.83957E-5 41326 0 NA
12-43777733-G-A p.Cys1500Cys synonymous ADAMTS20 2 82654 2.41973E-5 41327 0 NA
12-43777737-T-C p.Tyr1499Cys missense ADAMTS20 4 82664 4.83887E-5 41332 0 3.18512E-5
12-43777746-C-T p.Arg1496Lys missense ADAMTS20 1 82672 1.2096E-5 41336 0 3.98781E-6
12-43777749-T-G p.Gln1495Pro missense ADAMTS20 2 82674 2.41914E-5 41337 0 NA
12-43777753-G-C p.Gln1494Glu missense ADAMTS20 74 82678 8.95039E-4 41339 0 0.00111458
12-43777756-C-T p.Val1493Ile missense ADAMTS20 1 82680 1.20948E-5 41340 0 3.99068E-6
12-43777762-A-G p.Ser1491Pro missense ADAMTS20 1 82662 1.20975E-5 41331 0 6.36862E-5
12-43777764-C-A p.Gly1490Val missense ADAMTS20 2 82666 2.41937E-5 41333 0 3.18512E-5
12-43777775-A-G p.Ser1486Ser synonymous ADAMTS20 2 82642 2.42008E-5 41321 0 1.69474E-5
12-43792863-A-G c.4452+6T>C splice_region ADAMTS20 194 79930 0.00242712 39965 3 0.00548714
12-43792876-C-A p.Trp1482Leu missense ADAMTS20 1 80668 1.23965E-5 40334 0 4.4405E-5
12-43792884-G-C p.Ala1479Ala synonymous ADAMTS20 1 81098 1.23308E-5 40549 0 NA
12-43792885-G-A p.Ala1479Val missense ADAMTS20 1 81144 1.23238E-5 40572 0 NA
12-43792887-T-A p.Lys1478Asn missense ADAMTS20 1 81214 1.23131E-5 40607 0 NA
12-43792889-TCC-T p.Trp1477fs frameshift ADAMTS20 1 81222 1.23119E-5 40611 0 NA
12-43792892-A-AAT p.Trp1477fs frameshift ADAMTS20 1 81376 1.22886E-5 40688 0 NA
12-43792892-A-G p.Trp1477Arg missense ADAMTS20 1 81376 1.22886E-5 40688 0 NA
12-43792893-T-C p.Ser1476Ser synonymous ADAMTS20 3 81388 3.68605E-5 40694 0 NA
12-43792914-A-G p.Cys1469Cys synonymous ADAMTS20 1 82318 1.2148E-5 41159 0 NA
12-43792924-T-A p.His1466Leu missense ADAMTS20 1 82394 1.21368E-5 41197 0 1.21696E-5
12-43792928-T-C p.Thr1465Ala missense ADAMTS20 1 82400 1.21359E-5 41200 0 6.04113E-6
12-43792934-G-T p.Pro1463Thr missense ADAMTS20 1 82424 1.21324E-5 41212 0 NA
12-43792970-T-G p.Lys1451Gln missense ADAMTS20 1 82372 1.214E-5 41186 0 5.10845E-6
12-43792980-T-C p.Gln1447Gln synonymous ADAMTS20 5 82332 6.07297E-5 41166 0 6.25E-4
12-43792989-G-A p.Cys1444Cys synonymous ADAMTS20 1 82254 1.21575E-5 41127 0 NA
12-43793002-C-T p.Arg1440His missense ADAMTS20 2 81870 2.4429E-5 40935 0 5.33447E-5
12-43793005-T-C p.Tyr1439Cys missense ADAMTS20 1 81748 1.22327E-5 40874 0 NA
12-43793006-A-T p.Tyr1439Asn missense ADAMTS20 12 81664 1.46944E-4 40832 0 7.92644E-5
12-43793009-T-G p.Lys1438Gln missense ADAMTS20 2 81534 2.45296E-5 40767 0 2.64971E-5
12-43793017-T-C p.Lys1435Arg missense ADAMTS20 1 80740 1.23854E-5 40370 0 6.37349E-5
12-43793020-C-T p.Gly1434Asp missense ADAMTS20 1 80554 1.2414E-5 40277 0 3.18857E-5
12-43793023-C-T p.Cys1433Tyr missense ADAMTS20 1 80406 1.24369E-5 40203 0 NA
12-43793036-A-C p.Cys1429Gly missense+splice_region ADAMTS20 1 79744 1.25401E-5 39872 0 NA
12-43793040-G-A c.4285-4C>T splice_region ADAMTS20 39 79606 4.89913E-4 39803 0 0.00114811
12-43817507-T-C p.Asn620Ser missense ADAMTS20 1 53030 1.88573E-5 26515 0 3.18654E-5
12-43817551-T-C p.Leu605Leu synonymous ADAMTS20 1 53042 1.8853E-5 26521 0 9.55901E-5
12-43817574-T-C p.Ile598Val missense ADAMTS20 10 53060 1.88466E-4 26530 0 2.22987E-4
12-43817587-A-G p.Cys593Cys synonymous ADAMTS20 2 53062 3.76918E-5 26531 0 6.37024E-5
12-43817590-G-C p.His592Gln missense ADAMTS20 2 53064 3.76903E-5 26532 0 3.18552E-5
12-43817590-G-T p.His592Gln missense ADAMTS20 1 53064 1.88452E-5 26532 0 NA
12-43817619-C-T p.Val583Ile missense ADAMTS20 1 53034 1.88558E-5 26517 0 1.12141E-4
12-43817656-G-A p.Cys570Cys synonymous ADAMTS20 1 53024 1.88594E-5 26512 0 NA
12-43817657-C-A p.Cys570Phe missense ADAMTS20 1 53026 1.88587E-5 26513 0 NA
12-43817660-AAT-A p.Phe569fs frameshift ADAMTS20 2 53014 3.77259E-5 26507 0 1.77755E-5
12-43819310-A-G c.4284+7T>C splice_region ADAMTS20 33 80154 4.11707E-4 40077 0 6.25E-4
12-43819317-C-T p.Ser1428Ser splice_region+synonymous ADAMTS20 6 80448 7.45823E-5 40224 0 3.18471E-5
12-43819318-G-A p.Ser1428Leu missense+splice_region ADAMTS20 17 80412 2.11411E-4 40206 0 3.82636E-4
12-43819330-T-C p.Glu1424Gly missense ADAMTS20 1 80780 1.23793E-5 40390 0 3.1839E-5
12-43819337-G-A p.His1422Tyr missense ADAMTS20 35 81172 4.31183E-4 40586 0 0.001875
12-43819339-C-T p.Trp1421* stop_gained ADAMTS20 1 81212 1.23135E-5 40606 0 2.18797E-5
12-43819354-G-A p.Pro1416Leu missense ADAMTS20 2 81762 2.44612E-5 40881 0 NA
12-43819367-T-C p.Met1412Val missense ADAMTS20 1 82084 1.21826E-5 41042 0 8.19551E-6
12-43819370-G-T p.His1411Asn missense ADAMTS20 2 82118 2.43552E-5 41059 0 NA
12-43819379-T-C p.Ile1408Val missense ADAMTS20 3 82446 3.63875E-5 41223 0 3.18532E-5
12-43819382-C-T p.Val1407Ile missense ADAMTS20 11 82488 1.33353E-4 41244 0 6.37105E-5
12-43819387-G-A p.Pro1405Leu missense ADAMTS20 1 82520 1.21183E-5 41260 0 1.81403E-5
12-43819391-G-A p.Pro1404Ser missense ADAMTS20 1 82510 1.21197E-5 41255 0 8.06075E-6
12-43819402-A-G p.Ile1400Thr missense ADAMTS20 2 82552 2.42272E-5 41276 0 3.18532E-5
12-43819413-G-T p.His1396Gln missense ADAMTS20 1 82546 1.21145E-5 41273 0 4.01929E-6
12-43819413-G-C p.His1396Gln missense ADAMTS20 1 82546 1.21145E-5 41273 0 1.82675E-5
12-43819432-C-T p.Gly1390Asp missense ADAMTS20 1 82524 1.21177E-5 41262 0 NA
12-43819435-T-C p.Asn1389Ser missense ADAMTS20 1 82490 1.21227E-5 41245 0 NA
12-43819436-T-C p.Asn1389Asp missense ADAMTS20 2 82512 2.42389E-5 41256 0 9.30302E-6
12-43819443-T-C p.Gln1386Gln synonymous ADAMTS20 55 82492 6.66731E-4 41246 0 0.00151057
12-43819450-A-G p.Ile1384Thr missense ADAMTS20 1 82438 1.21303E-5 41219 0 9.55414E-5
12-43819451-T-C p.Ile1384Val missense ADAMTS20 1 82442 1.21297E-5 41221 0 3.87034E-5
12-43819456-A-G p.Leu1382Pro missense ADAMTS20 1 82384 1.21383E-5 41192 0 NA
12-43819473-T-G p.Gly1376Gly synonymous ADAMTS20 1 82146 1.21734E-5 41073 0 NA
12-43819477-C-T p.Gly1375Glu missense ADAMTS20 7 82132 8.52287E-5 41066 0 0.00100705
12-43819478-C-T p.Gly1375Arg missense ADAMTS20 1 82122 1.2177E-5 41061 0 1.10939E-5
12-43819481-A-G p.Cys1374Arg missense ADAMTS20 1 82082 1.21829E-5 41041 0 1.25313E-5
12-43819500-A-G c.4108-7T>C splice_region ADAMTS20 1 81660 1.22459E-5 40830 0 NA
12-43819501-C-A c.4108-8G>T splice_region ADAMTS20 2 81626 2.4502E-5 40813 0 NA
12-43821109-A-C c.4107+2T>G splice_donor ADAMTS20 1 82746 1.20852E-5 41373 0 NA
12-43821118-C-G p.Trp1367Ser missense ADAMTS20 1 82754 1.2084E-5 41377 0 NA
12-43821118-C-T p.Trp1367* stop_gained ADAMTS20 1 82754 1.2084E-5 41377 0 NA
12-43821120-A-G p.Asn1366Asn synonymous ADAMTS20 444 82744 0.00536595 41372 7 0.0108945
12-43821125-C-T p.Gly1365Arg missense ADAMTS20 6 82764 7.24953E-5 41382 0 3.80266E-4
12-43821126-G-A p.Tyr1364Tyr synonymous ADAMTS20 7 82760 8.45819E-5 41380 0 0.00100705
12-43821128-A-T p.Tyr1364Asn missense ADAMTS20 114 82760 0.00137748 41380 0 0.00375
12-43821144-A-C p.Pro1358Pro synonymous ADAMTS20 1 82778 1.20805E-5 41389 0 NA
12-43821148-C-T p.Gly1357Glu missense ADAMTS20 2 82778 2.4161E-5 41389 0 5.57889E-5
12-43821151-GGACCACA-G p.Cys1354fs frameshift ADAMTS20 1 82778 1.20805E-5 41389 0 NA
12-43821154-C-T p.Gly1355Asp missense ADAMTS20 1 82768 1.2082E-5 41384 0 NA
12-43821155-C-A p.Gly1355Cys missense ADAMTS20 10 82770 1.20817E-4 41385 0 2.55649E-4
12-43821159-T-C p.Gln1353Gln synonymous ADAMTS20 2 82770 2.41633E-5 41385 0 0.00100705
12-43821159-T-A p.Gln1353His missense ADAMTS20 6 82768 7.24918E-5 41384 0 1.99156E-5
12-43821162-C-A p.Gln1352His missense ADAMTS20 3 82764 3.62476E-5 41382 0 1.99165E-5
12-43821177-C-T p.Lys1347Lys synonymous ADAMTS20 1 82750 1.20846E-5 41375 0 NA
12-43821184-G-A p.Ala1345Val missense ADAMTS20 43 82736 5.19725E-4 41368 0 0.00122114
12-43821191-C-T p.Asp1343Asn missense ADAMTS20 1 82702 1.20916E-5 41351 0 8.3668E-5
12-43821192-G-A p.Cys1342Cys synonymous ADAMTS20 1 82682 1.20945E-5 41341 0 3.18715E-5
12-43821193-C-T p.Cys1342Tyr missense ADAMTS20 2 82690 2.41867E-5 41345 0 3.18613E-5
12-43821199-C-T p.Ser1340Asn missense ADAMTS20 1 82682 1.20945E-5 41341 0 3.98432E-6
12-43821202-GCACTTTGT-G p.Gln1337fs frameshift ADAMTS20 2 82666 2.41937E-5 41333 0 7.96997E-6
12-43821204-A-G p.Ser1338Ser synonymous ADAMTS20 2 82654 2.41973E-5 41327 0 NA
12-43821205-C-CT p.Ser1338fs frameshift ADAMTS20 1 82654 1.20986E-5 41327 0 NA
12-43821241-T-G p.His1326Pro missense ADAMTS20 1 82442 1.21297E-5 41221 0 NA
12-43821271-C-A p.Cys1316Phe missense+splice_region ADAMTS20 1 82206 1.21646E-5 41103 0 8.87044E-6
12-43821277-C-A c.3946-5G>T splice_region ADAMTS20 1 82102 1.218E-5 41051 0 NA
12-43822039-C-T c.3945+5G>A splice_region ADAMTS20 1 82314 1.21486E-5 41157 0 6.39672E-5
12-43822048-C-G p.Gly1314Ala missense ADAMTS20 2 82420 2.4266E-5 41210 0 8.2672E-6
12-43822059-G-A p.Thr1310Thr synonymous ADAMTS20 1 82464 1.21265E-5 41232 0 6.37227E-5
12-43822077-T-C p.Arg1304Arg synonymous ADAMTS20 1 82552 1.21136E-5 41276 0 NA
12-43822108-T-C p.Asn1294Ser missense ADAMTS20 1 82588 1.21083E-5 41294 0 1.6484E-5
12-43822129-A-G p.Leu1287Ser missense ADAMTS20 4 82588 4.84332E-5 41294 0 6.37146E-5
12-43822133-G-A p.Pro1286Ser missense ADAMTS20 1 82576 1.21101E-5 41288 0 2.7884E-5
12-43822134-C-T p.Leu1285Leu synonymous ADAMTS20 2 82570 2.42219E-5 41285 0 3.18593E-5
12-43822140-C-T p.Thr1283Thr synonymous ADAMTS20 21 82550 2.54391E-4 41275 0 6.37186E-5
12-43822140-C-G p.Thr1283Thr synonymous ADAMTS20 4 82550 4.84555E-5 41275 0 8.2428E-6
12-43822141-G-A p.Thr1283Met missense ADAMTS20 1 82536 1.21159E-5 41268 0 3.18613E-5
12-43822148-G-A p.Leu1281Leu synonymous ADAMTS20 1 82552 1.21136E-5 41276 0 NA
12-43822153-T-C p.Tyr1279Cys missense ADAMTS20 1 82572 1.21106E-5 41286 0 8.24402E-6
12-43822156-C-T p.Ser1278Asn missense ADAMTS20 40 82550 4.84555E-4 41275 1 0.00102008
12-43822167-A-T p.Pro1274Pro synonymous ADAMTS20 20 82552 2.42272E-4 41276 0 0.00100705
12-43822167-A-G p.Pro1274Pro synonymous ADAMTS20 2 82552 2.42272E-5 41276 0 NA
12-43822171-G-A p.Ser1273Phe missense ADAMTS20 1989 82520 0.0241032 41260 36 0.04
12-43822178-G-A p.Pro1271Ser missense ADAMTS20 1 82534 1.21162E-5 41267 0 3.98371E-6
12-43822191-T-G p.Ala1266Ala synonymous ADAMTS20 2 82512 2.42389E-5 41256 0 NA
12-43822196-G-A p.Pro1265Ser missense ADAMTS20 3 82514 3.63575E-5 41257 0 3.18756E-5
12-43822198-G-A p.Pro1264Leu missense ADAMTS20 1 82534 1.21162E-5 41267 0 3.98352E-6
12-43822200-G-A p.Cys1263Cys synonymous ADAMTS20 1 82524 1.21177E-5 41262 0 7.96825E-6
12-43822226-C-T p.Glu1255Lys missense ADAMTS20 1 82490 1.21227E-5 41245 0 NA
12-43822237-C-T p.Arg1251His missense ADAMTS20 3 82448 3.63866E-5 41224 0 3.306E-5
12-43822238-G-A p.Arg1251Cys missense ADAMTS20 1 82446 1.21292E-5 41223 0 1.65333E-5
12-43822247-G-T p.Pro1248Thr missense ADAMTS20 1 82416 1.21336E-5 41208 0 3.18573E-5
12-43822264-T-C p.Asp1242Gly missense ADAMTS20 1 82300 1.21507E-5 41150 0 NA
12-43822268-T-C p.Ile1241Val missense ADAMTS20 1 82248 1.21584E-5 41124 0 3.98715E-6
12-43822272-C-T p.Gln1239Gln synonymous ADAMTS20 4 82196 4.86642E-5 41098 0 1.59205E-4
12-43822279-T-C p.Tyr1237Cys missense ADAMTS20 12 82126 1.46117E-4 41063 1 5.03525E-4
12-43822286-T-C p.Met1235Val missense ADAMTS20 1 82068 1.2185E-5 41034 0 NA
12-43822298-G-C p.Gln1231Glu missense ADAMTS20 1 81942 1.22038E-5 40971 0 NA
12-43822301-G-A p.Arg1230* stop_gained ADAMTS20 2 81904 2.44188E-5 40952 0 3.99387E-6
12-43822322-A-G p.Cys1223Arg missense ADAMTS20 95 81816 0.00116114 40908 0 0.00222916
12-43822340-C-A c.3655-6G>T splice_region ADAMTS20 38 81676 4.65253E-4 40838 0 9.24332E-4
12-43822340-C-G c.3655-6G>C splice_region ADAMTS20 1 81676 1.22435E-5 40838 0 4.51527E-5
12-43822437-C-T c.3654+1G>A splice_donor ADAMTS20 6 81466 7.36504E-5 40733 0 3.62985E-4
12-43822437-C-G c.3654+1G>C splice_donor ADAMTS20 1 81466 1.22751E-5 40733 0 3.62985E-5
12-43822438-G-A p.Pro1218Pro splice_region+synonymous ADAMTS20 2 81384 2.45749E-5 40692 0 1.60051E-4
12-43822485-C-A p.Asp1203Tyr missense ADAMTS20 9 82658 1.08882E-4 41329 0 4.46201E-4
12-43822485-C-T p.Asp1203Asn missense ADAMTS20 1 82658 1.2098E-5 41329 0 1.20113E-5
12-43822503-G-A p.Arg1197* stop_gained ADAMTS20 1 82686 1.20939E-5 41343 0 8.25955E-6
12-43822518-A-C p.Cys1192Gly missense ADAMTS20 1 82662 1.20975E-5 41331 0 5.03525E-4
12-43822525-T-A p.Glu1189Asp missense ADAMTS20 1 82638 1.2101E-5 41319 0 1.19679E-5
12-43822538-C-T p.Arg1185Lys missense ADAMTS20 1 82564 1.21118E-5 41282 0 3.99246E-6
12-43822543-A-G p.Leu1183Leu synonymous ADAMTS20 1 82514 1.21192E-5 41257 0 3.99297E-6
12-43822553-C-T p.Arg1180His missense ADAMTS20 2 82438 2.42607E-5 41219 0 3.18817E-5
12-43822557-A-G p.Cys1179Arg missense ADAMTS20 1 82392 1.21371E-5 41196 0 NA
12-43822562-A-T p.Val1177Glu missense ADAMTS20 1 82338 1.21451E-5 41169 0 5.64621E-5
12-43822564-A-G p.Tyr1176Tyr synonymous ADAMTS20 9 82316 1.09335E-4 41158 0 1.65145E-5
12-43822565-T-C p.Tyr1176Cys missense ADAMTS20 10 82302 1.21504E-4 41151 0 6.81363E-5
12-43822568-C-T p.Arg1175His missense ADAMTS20 11 82264 1.33716E-4 41132 0 1.59398E-4
12-43822569-G-A p.Arg1175Cys missense ADAMTS20 5 82252 6.07888E-5 41126 0 8.4334E-5
12-43822581-C-T p.Gly1171Ser missense ADAMTS20 1 82096 1.21809E-5 41048 0 8.06543E-6
12-43822588-A-G p.Cys1168Cys synonymous ADAMTS20 2 81970 2.43992E-5 40985 0 NA
12-43822589-C-A p.Cys1168Phe missense ADAMTS20 1 81924 1.22064E-5 40962 0 8.29504E-6
12-43822595-A-C p.Val1166Gly missense ADAMTS20 1 81768 1.22297E-5 40884 0 4.05772E-6
12-43822596-C-T p.Val1166Ile missense ADAMTS20 12 81736 1.46814E-4 40868 1 5.03525E-4
12-43822597-G-A p.Ser1165Ser synonymous ADAMTS20 2 81682 2.44852E-5 40841 0 5.03525E-4
12-43822598-G-A p.Ser1165Phe missense ADAMTS20 1 81644 1.22483E-5 40822 0 NA
12-43823418-A-G c.3489+2T>C splice_donor ADAMTS20 1 82046 1.21883E-5 41023 0 NA
12-43823426-C-T p.Trp1161* stop_gained ADAMTS20 1 82086 1.21823E-5 41043 0 2.44846E-5
12-43823439-C-T p.Arg1157Gln missense ADAMTS20 2 82120 2.43546E-5 41060 0 6.36983E-5
12-43823440-G-A p.Arg1157* stop_gained ADAMTS20 2 82120 2.43546E-5 41060 0 1.08719E-4
12-43823447-T-C p.Ala1154Ala synonymous ADAMTS20 5 82156 6.08598E-5 41078 0 9.55292E-5
12-43823449-C-T p.Ala1154Thr missense ADAMTS20 1 82162 1.21711E-5 41081 0 2.05061E-5
12-43823460-A-C p.Ile1150Arg missense ADAMTS20 1 82154 1.21723E-5 41077 0 NA
12-43823471-T-A p.Pro1146Pro synonymous ADAMTS20 5 82166 6.08524E-5 41083 0 4.32919E-5
12-43823472-G-A p.Pro1146Leu missense ADAMTS20 1 82154 1.21723E-5 41077 0 4.34088E-6
12-43823473-G-A p.Pro1146Ser missense ADAMTS20 2 82136 2.43499E-5 41068 0 3.18532E-5
12-43823474-T-G p.Leu1145Phe missense ADAMTS20 1 82144 1.21737E-5 41072 0 NA
12-43823482-C-T p.Ala1143Thr missense ADAMTS20 3 82128 3.65283E-5 41064 0 2.19811E-5
12-43823483-G-A p.Thr1142Thr synonymous ADAMTS20 10 82142 1.2174E-4 41071 0 0.00252525
12-43823486-C-G p.Glu1141Asp missense ADAMTS20 11 82136 1.33924E-4 41068 0 1.45361E-4
12-43823489-A-G p.Leu1140Leu synonymous ADAMTS20 1 82144 1.21737E-5 41072 0 9.01193E-6
12-43823490-A-G p.Leu1140Pro missense ADAMTS20 1 82146 1.21734E-5 41073 0 6.29221E-5
12-43823493-T-A p.Lys1139Ile missense ADAMTS20 70 82164 8.51955E-4 41082 0 0.00992324
12-43823517-A-AG p.Leu1131fs frameshift ADAMTS20 2 82120 2.43546E-5 41060 0 NA
12-43823526-C-T p.Ser1128Asn missense+splice_region ADAMTS20 1 82018 1.21924E-5 41009 0 NA
12-43823534-A-G c.3382-7T>C splice_region ADAMTS20 1 81740 1.22339E-5 40870 0 1.27389E-4
12-43824159-C-T p.Arg1126Lys missense ADAMTS20 1 81972 1.21993E-5 40986 0 NA
12-43824164-A-C p.Ser1124Arg missense ADAMTS20 2 81990 2.43932E-5 40995 0 6.25E-4
12-43824171-C-G p.Arg1122Pro missense ADAMTS20 1 81952 1.22023E-5 40976 0 NA
12-43824172-G-A p.Arg1122Cys missense ADAMTS20 2 81946 2.44063E-5 40973 0 1.68498E-5
12-43824205-C-T p.Val1111Met missense ADAMTS20 1 82026 1.21913E-5 41013 0 3.98896E-6
12-43824222-T-C p.Asn1105Ser missense ADAMTS20 1 82062 1.21859E-5 41031 0 3.58938E-5
12-43824226-C-T p.Val1104Ile missense ADAMTS20 1 82076 1.21838E-5 41038 0 3.98839E-6
12-43824229-A-T p.Cys1103Ser missense ADAMTS20 1 82080 1.21832E-5 41040 0 3.98826E-6
12-43824232-T-A p.Lys1102* stop_gained ADAMTS20 3 82094 3.65435E-5 41047 0 NA
12-43824237-T-A p.Asp1100Val missense ADAMTS20 1 82042 1.21889E-5 41021 0 NA
12-43824240-C-T p.Arg1099Gln missense ADAMTS20 2 82038 2.43789E-5 41019 0 3.18613E-5
12-43824241-G-A p.Arg1099* stop_gained ADAMTS20 3 82034 3.65702E-5 41017 0 3.99061E-6
12-43824247-G-A p.Gln1097* stop_gained ADAMTS20 1 82042 1.21889E-5 41021 0 NA
12-43824252-C-T p.Gly1095Glu missense ADAMTS20 1 82030 1.21907E-5 41015 0 8.35101E-6
12-43824256-G-C p.His1094Asp missense ADAMTS20 3 82012 3.658E-5 41006 0 2.51366E-5
12-43824273-C-T p.Cys1088Tyr missense+splice_region ADAMTS20 1 81878 1.22133E-5 40939 0 NA
12-43824281-G-A c.3262-7C>T splice_region ADAMTS20 1 81664 1.22453E-5 40832 0 9.25104E-6
12-43825127-A-G c.3261+8T>C splice_region ADAMTS20 2 82050 2.43754E-5 41025 0 1.19903E-5
12-43825131-T-C c.3261+4A>G splice_region ADAMTS20 1 82180 1.21684E-5 41090 0 8.24974E-6
12-43825136-G-A p.Pro1087Leu missense+splice_region ADAMTS20 1 82294 1.21516E-5 41147 0 8.24552E-6
12-43825139-C-T p.Gly1086Asp missense ADAMTS20 1 82308 1.21495E-5 41154 0 3.98692E-6
12-43825159-G-T p.Ser1079Ser synonymous ADAMTS20 1 82480 1.21242E-5 41240 0 NA
12-43825161-A-G p.Ser1079Pro missense ADAMTS20 1 82484 1.21236E-5 41242 0 8.23981E-6
12-43825166-C-T p.Cys1077Tyr missense ADAMTS20 7 82542 8.48053E-5 41271 0 4.94364E-5
12-43825177-T-C p.Glu1073Glu synonymous ADAMTS20 1 82572 1.21106E-5 41286 0 8.23913E-6
12-43825182-A-G p.Cys1072Arg missense ADAMTS20 4 82574 4.84414E-5 41287 0 1.19476E-5
12-43825187-C-G p.Ser1070Thr missense ADAMTS20 1 82596 1.21071E-5 41298 0 1.64769E-5
12-43825196-T-G p.Glu1067Ala missense ADAMTS20 1 82606 1.21057E-5 41303 0 NA
12-43825208-C-T p.Ser1063Asn missense ADAMTS20 3 82630 3.63064E-5 41315 0 3.29527E-5
12-43825240-T-C p.Val1052Val synonymous ADAMTS20 1 82644 1.21001E-5 41322 0 NA
12-43825241-A-T p.Val1052Glu missense ADAMTS20 1 82638 1.2101E-5 41319 0 3.98264E-6
12-43825258-T-C p.Val1046Val synonymous ADAMTS20 1 82580 1.21095E-5 41290 0 6.3678E-5
12-43825261-C-T p.Gln1045Gln synonymous ADAMTS20 1 82614 1.21045E-5 41307 0 8.23696E-6
12-43825265-C-T p.Arg1044Gln missense ADAMTS20 2 82576 2.42201E-5 41288 0 1.27372E-4
12-43825267-C-T p.Gln1043Gln synonymous ADAMTS20 1 82572 1.21106E-5 41286 0 NA
12-43825275-T-C p.Thr1041Ala missense ADAMTS20 1 82532 1.21165E-5 41266 0 1.64739E-5
12-43825282-A-G p.Gly1038Gly synonymous ADAMTS20 1 82478 1.21244E-5 41239 0 3.98508E-6
12-43825284-C-T p.Gly1038Ser missense ADAMTS20 1 82464 1.21265E-5 41232 0 7.9708E-5
12-43825285-A-C p.Cys1037Trp missense ADAMTS20 1 82462 1.21268E-5 41231 0 3.1837E-5
12-43825288-T-C p.Thr1036Thr synonymous ADAMTS20 1 82458 1.21274E-5 41229 0 4.78191E-5
12-43825302-G-A c.3097-3C>T splice_region ADAMTS20 2 82304 2.43002E-5 41152 0 NA
12-43826100-A-C c.3096+7T>G splice_region ADAMTS20 3 82160 3.65141E-5 41080 0 4.01104E-5
12-43826102-T-C c.3096+5A>G splice_region ADAMTS20 1 82194 1.21663E-5 41097 0 8.42119E-6
12-43826108-T-A p.Glu1032Val missense+splice_region ADAMTS20 1 82242 1.21592E-5 41121 0 NA
12-43826110-G-A p.Ser1031Ser synonymous ADAMTS20 55 82244 6.68742E-4 41122 0 0.00130898
12-43826110-G-C p.Ser1031Arg missense ADAMTS20 2 82244 2.43179E-5 41122 0 3.99192E-6
12-43826111-C-T p.Ser1031Asn missense ADAMTS20 1 82262 1.21563E-5 41131 0 8.34335E-6
12-43826116-T-C p.Glu1029Glu synonymous ADAMTS20 22 82308 2.67289E-4 41154 0 0.00100705
12-43826121-T-C p.Ser1028Gly missense ADAMTS20 1 82320 1.21477E-5 41160 0 NA
12-43826130-A-C p.Trp1025Gly missense ADAMTS20 1 82358 1.21421E-5 41179 0 1.65582E-5
12-43826169-C-G p.Val1012Leu missense ADAMTS20 1 82442 1.21297E-5 41221 0 NA
12-43826171-C-T p.Arg1011Gln missense ADAMTS20 12 82448 1.45546E-4 41224 0 8.76347E-5
12-43826171-C-A p.Arg1011Leu missense ADAMTS20 2 82448 2.42577E-5 41224 0 3.19264E-5
12-43826172-G-A p.Arg1011* stop_gained ADAMTS20 1 82454 1.2128E-5 41227 0 3.19591E-5
12-43826173-G-A p.Ser1010Ser synonymous ADAMTS20 1 82458 1.21274E-5 41229 0 NA
12-43826185-G-A p.Cys1006Cys synonymous ADAMTS20 3 82482 3.63716E-5 41241 0 8.2462E-6
12-43826192-T-C p.Asn1004Ser missense ADAMTS20 329 82508 0.00398749 41254 5 0.00692273
12-43826193-T-C p.Asn1004Asp missense ADAMTS20 2 82512 2.42389E-5 41256 0 NA
12-43826204-C-T p.Arg1000His missense ADAMTS20 1980 82482 0.0240052 41241 36 0.04
12-43826205-G-A p.Arg1000Cys missense ADAMTS20 2 82524 2.42354E-5 41262 0 2.47251E-5
12-43826222-A-T p.Met994Lys missense ADAMTS20 5 82554 6.05664E-5 41277 0 3.19203E-5
12-43826237-C-T p.Arg989Gln missense ADAMTS20 1 82532 1.21165E-5 41266 0 3.20842E-5
12-43826241-A-G p.Ser988Pro missense ADAMTS20 1 82532 1.21165E-5 41266 0 NA
12-43826248-C-T p.Gly985Gly synonymous ADAMTS20 263 82538 0.00318641 41269 2 0.00612887
12-43826271-ACTG-A c.2932-3_2932-1delCAG splice_acceptor ADAMTS20 1 82492 1.21224E-5 41246 0 NA
12-43826276-T-TAAAA c.2932-6_2932-5insTTTT splice_region ADAMTS20 1 82390 1.21374E-5 41195 0 NA
12-43826277-T-TA c.2932-7_2932-6insT splice_region ADAMTS20 8544 72458 0.117917 36229 213 0.284719
12-43826277-TA-T c.2932-7delT splice_region ADAMTS20 99 74880 0.00132212 37440 0 0.128456
12-43826277-T-TAA c.2932-7_2932-6insTT splice_region ADAMTS20 86 82372 0.00104404 41186 0 0.00578579
12-43826277-TAA-T c.2932-8_2932-7delTT splice_region ADAMTS20 2 82404 2.42707E-5 41202 0 2.04393E-4
12-43826277-TAAA-T c.2932-9_2932-7delTTT splice_region ADAMTS20 1 82410 1.21345E-5 41205 0 4.06207E-5
12-43826278-A-T c.2932-7T>A splice_region ADAMTS20 69 82374 8.37643E-4 41187 0 0.00554665
12-43826434-G-A p.Phe967Phe synonymous ADAMTS20 16 82684 1.93508E-4 41342 0 1.59236E-4
12-43826441-C-G p.Cys965Ser missense ADAMTS20 2 82688 2.41873E-5 41344 0 4.13209E-5
12-43826465-G-A p.Thr957Ile missense ADAMTS20 4 82674 4.83828E-5 41337 0 8.24783E-6
12-43826486-C-G p.Gly950Ala missense ADAMTS20 7 82668 8.46761E-5 41334 0 4.94519E-5
12-43826487-C-G p.Gly950Arg missense ADAMTS20 1 82674 1.20957E-5 41337 0 3.18624E-5
12-43826487-C-T p.Gly950Ser missense ADAMTS20 1 82674 1.20957E-5 41337 0 2.78796E-5
12-43826492-T-C p.Tyr948Cys missense ADAMTS20 1 82654 1.20986E-5 41327 0 8.24117E-6
12-43826501-T-A p.Asp945Val missense ADAMTS20 1 82636 1.21013E-5 41318 0 NA
12-43826521-T-G p.Glu938Asp missense ADAMTS20 9 82622 1.0893E-4 41311 0 5.76673E-5
12-43826524-A-C p.His937Gln missense ADAMTS20 1 82616 1.21042E-5 41308 0 2.47141E-5
12-43826525-T-C p.His937Arg missense ADAMTS20 1 82616 1.21042E-5 41308 0 NA
12-43826529-T-C p.Ile936Val missense ADAMTS20 2 82608 2.42107E-5 41304 0 0.00100705
12-43826542-G-A p.Cys931Cys synonymous ADAMTS20 1 82616 1.21042E-5 41308 0 NA
12-43826543-C-A p.Cys931Phe missense ADAMTS20 1 82610 1.21051E-5 41305 0 3.18512E-5
12-43826545-A-G p.His930His synonymous ADAMTS20 1 82604 1.2106E-5 41302 0 5.76654E-5
12-43826554-CA-C p.Leu927fs frameshift ADAMTS20 1 82588 1.21083E-5 41294 0 NA
12-43826558-G-A p.Thr926Ile missense ADAMTS20 3 82600 3.63196E-5 41300 0 NA
12-43826568-C-T p.Gly923Arg missense ADAMTS20 1 82578 1.21098E-5 41289 0 NA
12-43826585-G-A p.Ser917Leu missense ADAMTS20 2 82570 2.42219E-5 41285 0 3.98419E-6
12-43826587-A-G p.Cys916Cys synonymous ADAMTS20 1 82548 1.21142E-5 41274 0 NA
12-43826590-T-A p.Glu915Asp missense ADAMTS20 511 82538 0.00619109 41269 10 0.0124212
12-43826601-C-T p.Gly912Ser missense ADAMTS20 1 82512 1.21194E-5 41256 0 8.2447E-6
12-43826605-A-C p.Val910Val synonymous ADAMTS20 1 82494 1.21221E-5 41247 0 2.47439E-5
12-43826609-T-C p.His909Arg missense ADAMTS20 1 82446 1.21292E-5 41223 0 NA
12-43828058-A-C p.Cys904Gly missense ADAMTS20 1 82526 1.21174E-5 41263 0 NA
12-43828074-T-C p.Gln898Gln synonymous ADAMTS20 1 82594 1.21074E-5 41297 0 NA
12-43828094-G-A p.Leu892Phe missense ADAMTS20 1 82618 1.21039E-5 41309 0 2.39234E-5
12-43828102-TG-T p.His889fs frameshift ADAMTS20 1 82614 1.21045E-5 41307 0 NA
12-43828103-G-T p.His889Asn missense ADAMTS20 13 82606 1.57374E-4 41303 0 5.04032E-4
12-43828113-T-C p.Lys885Lys synonymous ADAMTS20 1 82610 1.21051E-5 41305 0 NA
12-43828116-A-G p.Asp884Asp synonymous ADAMTS20 1 82602 1.21062E-5 41301 0 NA
12-43828117-T-G p.Asp884Ala missense ADAMTS20 7 82606 8.47396E-5 41303 0 6.25E-4
12-43828124-C-T p.Val882Met missense ADAMTS20 1 82590 1.2108E-5 41295 0 9.10249E-6
12-43828127-C-G p.Val881Leu missense ADAMTS20 1 82584 1.21089E-5 41292 0 4.59546E-6
12-43828130-T-C p.Ser880Gly missense ADAMTS20 2 82578 2.42195E-5 41289 0 3.75127E-4
12-43828131-A-G p.His879His synonymous ADAMTS20 1 82564 1.21118E-5 41282 0 NA
12-43828141-T-A p.Lys876Met missense ADAMTS20 1972 82508 0.0239007 41254 36 0.0593152
12-43828144-T-C p.His875Arg missense ADAMTS20 2 82532 2.4233E-5 41266 0 4.65471E-6
12-43828153-G-A p.Thr872Ile missense ADAMTS20 20 82462 2.42536E-4 41231 0 0.001875
12-43828165-C-T p.Arg868Gln missense ADAMTS20 2 82376 2.42789E-5 41188 0 5.04541E-4
12-43828166-G-A p.Arg868* stop_gained ADAMTS20 7 82362 8.49907E-5 41181 0 1.16539E-4
12-43833420-C-T c.2593+5G>A splice_region ADAMTS20 29 82538 3.51353E-4 41269 0 2.74787E-4
12-43833421-G-A c.2593+4C>T splice_region ADAMTS20 1 82554 1.21133E-5 41277 0 1.71177E-5
12-43833432-C-T p.Met862Ile missense ADAMTS20 8 82608 9.68429E-5 41304 0 7.07826E-5
12-43833432-C-A p.Met862Ile missense ADAMTS20 1 82608 1.21054E-5 41304 0 3.18654E-5
12-43833445-C-T p.Gly858Asp missense ADAMTS20 1 82622 1.21033E-5 41311 0 4.05775E-6
12-43833454-G-A p.Pro855Leu missense ADAMTS20 2 82592 2.42154E-5 41296 0 4.00808E-6
12-43833460-T-C p.Tyr853Cys missense ADAMTS20 1 82568 1.21112E-5 41284 0 1.19623E-5
12-43833466-T-A p.Asp851Val missense ADAMTS20 1 82564 1.21118E-5 41282 0 3.98705E-6
12-43833471-T-C p.Thr849Thr synonymous ADAMTS20 1 82534 1.21162E-5 41267 0 3.98584E-6
12-43833477-C-T p.Met1? start_lost ADAMTS20 2 82534 2.42324E-5 41267 0 5.03525E-4
12-43833479-T-C p.Met1? start_lost ADAMTS20 2 82530 2.42336E-5 41265 0 3.18715E-5
12-43833511-G-T p.Ser836Tyr missense ADAMTS20 2 82462 2.42536E-5 41231 0 2.79062E-5
12-43833518-G-T p.His834Asn missense ADAMTS20 29 82436 3.51788E-4 41218 0 2.47975E-4
12-43833525-A-C p.Pro831Pro synonymous ADAMTS20 1 82410 1.21345E-5 41205 0 8.27486E-6
12-43833531-G-A p.Tyr829Tyr synonymous ADAMTS20 1 82410 1.21345E-5 41205 0 3.18634E-5
12-43833542-C-T p.Gly826Ser missense ADAMTS20 1 82460 1.21271E-5 41230 0 4.02976E-6
12-43833714-C-A p.Glu817* stop_gained ADAMTS20 1 82320 1.21477E-5 41160 0 NA
12-43833720-C-T p.Glu815Lys missense ADAMTS20 3 82336 3.64361E-5 41168 0 NA
12-43833725-C-T p.Arg813Gln missense ADAMTS20 4 82334 4.85826E-5 41167 0 4.91545E-5
12-43833725-C-A p.Arg813Leu missense ADAMTS20 2 82334 2.42913E-5 41167 0 4.16105E-6
12-43833725-C-G p.Arg813Pro missense ADAMTS20 2 82334 2.42913E-5 41167 0 3.18735E-5
12-43833737-T-C p.Asn809Ser missense ADAMTS20 1 82368 1.21406E-5 41184 0 1.2838E-5
12-43833739-A-G p.Ile808Ile synonymous ADAMTS20 613 82352 0.00744366 41176 10 0.0140987
12-43833752-G-A p.Ala804Val missense ADAMTS20 2 82346 2.42878E-5 41173 0 1.59449E-4
12-43833753-C-T p.Ala804Thr missense ADAMTS20 2 82346 2.42878E-5 41173 0 0.00100705
12-43833754-G-A p.Asn803Asn synonymous ADAMTS20 1 82350 1.21433E-5 41175 0 3.18979E-5
12-43833766-A-G p.Ser799Ser synonymous ADAMTS20 3 82318 3.6444E-5 41159 0 NA
12-43833772-T-C p.Glu797Glu synonymous ADAMTS20 14 82330 1.70047E-4 41165 0 9.56023E-5
12-43833774-C-A p.Glu797* stop_gained ADAMTS20 1 82322 1.21474E-5 41161 0 NA
12-43833784-T-C p.Arg793Arg synonymous ADAMTS20 24 82304 2.91602E-4 41152 0 2.23129E-4
12-43833793-T-A p.Gln790His missense ADAMTS20 1 82292 1.21518E-5 41146 0 1.40767E-5
12-43833804-TTTC-T p.Glu786del conservative_inframe_deletion ADAMTS20 4 82252 4.8631E-5 41126 0 4.92315E-6
12-43833805-TTC-T p.Glu786fs frameshift ADAMTS20 1 82254 1.21575E-5 41127 0 9.83371E-6
12-43833808-T-C p.Lys785Lys synonymous ADAMTS20 1 82234 1.21604E-5 41117 0 5.00816E-6
12-43833817-C-T p.Thr782Thr synonymous ADAMTS20 1 82144 1.21737E-5 41072 0 2.59808E-5
12-43833818-G-A p.Thr782Met missense ADAMTS20 3 82146 3.65203E-5 41073 0 1.33533E-4
12-43833861-C-T p.Ala768Thr missense ADAMTS20 2 81840 2.44379E-5 40920 0 6.39959E-5
12-43833862-G-A p.Asp767Asp synonymous ADAMTS20 7 81842 8.55307E-5 40921 0 6.25782E-4
12-43833874-T-C c.2291-2A>G splice_acceptor ADAMTS20 1 81604 1.22543E-5 40802 0 NA
12-43833878-A-C c.2291-6T>G splice_region ADAMTS20 8 81438 9.82342E-5 40719 0 3.18817E-5
12-43837627-T-C p.Ser753Gly missense ADAMTS20 1 82570 1.21109E-5 41285 0 3.986E-6
12-43837629-T-C p.Tyr752Cys missense ADAMTS20 2 82588 2.42166E-5 41294 0 NA
12-43837635-C-T p.Arg750His missense ADAMTS20 6 82576 7.26603E-5 41288 0 4.11868E-5
12-43837636-G-A p.Arg750Cys missense ADAMTS20 4 82592 4.84308E-5 41296 0 3.18613E-5
12-43837639-T-C p.Ile749Val missense ADAMTS20 1 82590 1.2108E-5 41295 0 5.03525E-4
12-43837640-G-A p.Asp748Asp synonymous ADAMTS20 1 82586 1.21086E-5 41293 0 1.64747E-5
12-43837645-C-T p.Val747Ile missense ADAMTS20 2 82572 2.42213E-5 41286 0 3.18735E-5
12-43837646-G-A p.Asn746Asn synonymous ADAMTS20 1 82580 1.21095E-5 41290 0 3.18552E-5
12-43837646-G-T p.Asn746Lys missense ADAMTS20 1 82580 1.21095E-5 41290 0 4.11882E-5
12-43837650-G-C p.Thr745Arg missense ADAMTS20 8 82590 9.6864E-5 41295 0 4.94275E-5
12-43837651-T-C p.Thr745Ala missense ADAMTS20 7 82592 8.4754E-5 41296 0 6.36821E-5
12-43837660-C-T p.Ala742Thr missense ADAMTS20 2 82526 2.42348E-5 41263 0 3.98708E-6
12-43837661-G-A p.Pro741Pro synonymous ADAMTS20 6 82530 7.27008E-5 41265 0 5.76673E-5
12-43837679-A-G p.Asn735Asn synonymous ADAMTS20 2 82468 2.42518E-5 41234 0 6.25E-4
12-43840390-CA-C c.2197+7delT splice_region ADAMTS20 1 82196 1.2166E-5 41098 0 3.18857E-5
12-43840397-C-G c.2197+1G>C splice_donor ADAMTS20 1 82262 1.21563E-5 41131 0 8.56546E-6
12-43840417-G-A p.Val726Val synonymous ADAMTS20 6 82362 7.28491E-5 41181 0 6.37146E-5
12-43840423-T-C p.Thr724Thr synonymous ADAMTS20 1 82388 1.21377E-5 41194 0 NA
12-43840425-T-C p.Thr724Ala missense ADAMTS20 1 82406 1.2135E-5 41203 0 3.98613E-6
12-43840426-T-C p.Ile723Met missense ADAMTS20 3 82416 3.64007E-5 41208 0 8.29862E-6
12-43840432-C-T p.Lys721Lys synonymous ADAMTS20 1 82436 1.21306E-5 41218 0 6.25E-4
12-43840444-G-A p.Asn717Asn synonymous ADAMTS20 3 82456 3.6383E-5 41228 0 2.22973E-4
12-43840454-C-T p.Gly714Asp missense ADAMTS20 2 82452 2.42565E-5 41226 0 NA
12-43840455-C-A p.Gly714Cys missense ADAMTS20 1 82464 1.21265E-5 41232 0 NA
12-43840461-C-T p.Val712Met missense ADAMTS20 1 82468 1.21259E-5 41234 0 NA
12-43840475-A-G p.Ile707Thr missense ADAMTS20 2 82464 2.4253E-5 41232 0 2.78976E-5
12-43840481-G-A p.Ala705Val missense ADAMTS20 2 82444 2.42589E-5 41222 0 3.98629E-6
12-43840481-G-T p.Ala705Asp missense ADAMTS20 1 82442 1.21297E-5 41221 0 3.98629E-6
12-43840486-G-A p.Ser703Ser synonymous ADAMTS20 1 82430 1.21315E-5 41215 0 3.18695E-5
12-43840497-C-T p.Val700Met missense ADAMTS20 1 82422 1.21327E-5 41211 0 8.39687E-6
12-43840498-G-T p.His699Gln missense ADAMTS20 2 82414 2.42677E-5 41207 0 NA
12-43840505-C-A p.Cys697Phe missense ADAMTS20 2 82420 2.4266E-5 41210 0 3.43477E-5
12-43846076-C-T c.2079+1G>A splice_donor ADAMTS20 2 82128 2.43522E-5 41064 0 8.35506E-6
12-43846081-C-T p.Cys692Tyr missense ADAMTS20 1 82160 1.21714E-5 41080 0 8.17675E-6
12-43846088-C-T p.Gly690Ser missense ADAMTS20 2 82194 2.43327E-5 41097 0 NA
12-43846110-T-C p.Glu682Glu synonymous ADAMTS20 1 82266 1.21557E-5 41133 0 NA
12-43846119-A-G p.Cys679Cys synonymous ADAMTS20 1 82294 1.21516E-5 41147 0 NA
12-43846129-C-T p.Gly676Asp missense ADAMTS20 2 82318 2.4296E-5 41159 0 2.31421E-4
12-43846138-A-G p.Val673Ala missense ADAMTS20 1 82322 1.21474E-5 41161 0 NA
12-43846142-T-C p.Met672Val missense ADAMTS20 1 82318 1.2148E-5 41159 0 4.13203E-5
12-43846160-A-T p.Phe666Ile missense ADAMTS20 4 82360 4.85673E-5 41180 0 3.19252E-5
12-43846165-T-A p.Asn664Ile missense ADAMTS20 1 82352 1.2143E-5 41176 0 NA
12-43846165-T-C p.Asn664Ser missense ADAMTS20 1 82352 1.2143E-5 41176 0 8.26228E-6
12-43846167-G-C p.Thr663Thr synonymous ADAMTS20 3 82348 3.64308E-5 41174 0 2.47893E-5
12-43846179-C-A p.Gln659His missense ADAMTS20 1 82330 1.21462E-5 41165 0 NA
12-43846198-C-T p.Arg653His missense ADAMTS20 7 82272 8.50836E-5 41136 0 5.03525E-4
12-43846199-G-T p.Arg653Ser missense ADAMTS20 69 82268 8.38722E-4 41134 1 0.00164765
12-43846199-G-A p.Arg653Cys missense ADAMTS20 5 82268 6.0777E-5 41134 0 4.05755E-5
12-43846214-C-T c.1943-1G>A splice_acceptor ADAMTS20 1 82218 1.21628E-5 41109 0 NA
12-43846215-T-C c.1943-2A>G splice_acceptor ADAMTS20 1 82224 1.21619E-5 41112 0 4.12964E-6
12-43846220-A-C c.1943-7T>G splice_region ADAMTS20 1 82214 1.21634E-5 41107 0 8.31476E-6
12-43846311-AC-A c.1942+5delG splice_region ADAMTS20 1 82074 1.21841E-5 41037 0 6.3678E-5
12-43846319-C-A p.Gly647Val missense+splice_region ADAMTS20 1 82066 1.21853E-5 41033 0 8.29669E-6
12-43846329-T-C p.Arg644Gly missense ADAMTS20 2 82098 2.43611E-5 41049 0 NA
12-43846339-C-T p.Arg640Arg synonymous ADAMTS20 1 82102 1.218E-5 41051 0 4.00118E-6
12-43846353-G-C p.Pro636Ala missense ADAMTS20 1 82102 1.218E-5 41051 0 8.28981E-6
12-43846360-A-G p.Ser633Ser synonymous ADAMTS20 1 82132 1.21755E-5 41066 0 NA
12-43846378-A-G p.Gly627Gly synonymous ADAMTS20 6 82160 7.30282E-5 41080 0 8.3203E-6
12-43846387-A-G p.Asp624Asp synonymous ADAMTS20 3 82214 3.64901E-5 41107 0 7.98582E-6
12-43846406-C-T p.Arg618Gln missense ADAMTS20 1 82328 1.21465E-5 41164 0 8.43512E-6
12-43846414-T-G p.Gln615His missense ADAMTS20 4 82368 4.85625E-5 41184 0 2.39781E-5
12-43846421-C-T p.Gly613Asp missense ADAMTS20 1 82386 1.2138E-5 41193 0 NA
12-43846428-G-A p.Pro611Ser missense ADAMTS20 1 82412 1.21342E-5 41206 0 3.99997E-6
12-43846433-G-T p.Ser609* stop_gained ADAMTS20 3 82436 3.63919E-5 41218 0 8.63692E-6
12-43846450-T-C p.Arg603Arg synonymous ADAMTS20 1 82424 1.21324E-5 41212 0 4.01133E-6
12-43846451-C-G p.Arg603Pro missense ADAMTS20 2 82416 2.42671E-5 41208 0 NA
12-43846451-C-T p.Arg603Gln missense ADAMTS20 1 82416 1.21336E-5 41208 0 8.88462E-6
12-43846463-C-T p.Arg599Lys missense ADAMTS20 1 82426 1.21321E-5 41213 0 8.04246E-6
12-43846466-C-T p.Arg598His missense ADAMTS20 3 82406 3.64051E-5 41203 0 1.8578E-5
12-43846467-G-A p.Arg598Cys missense ADAMTS20 1 82396 1.21365E-5 41198 0 5.23666E-5
12-43846468-G-T p.Gly597Gly synonymous ADAMTS20 2 82406 2.42701E-5 41203 0 1.61079E-5
12-43846468-G-A p.Gly597Gly synonymous ADAMTS20 1 82406 1.2135E-5 41203 0 NA
12-43846488-C-T p.Gly591Arg missense ADAMTS20 5 82268 6.0777E-5 41134 0 4.89984E-5
12-43846489-G-A p.Asn590Asn synonymous ADAMTS20 2 82256 2.43143E-5 41128 0 3.18593E-5
12-43846495-T-G p.Pro588Pro synonymous ADAMTS20 1 82184 1.21678E-5 41092 0 3.1839E-5
12-43846501-A-C c.1761-3T>G splice_region ADAMTS20 1 82076 1.21838E-5 41038 0 NA
12-43847711-C-T p.Glu587Lys missense+splice_region ADAMTS20 79 82364 9.59157E-4 41182 0 0.0016894
12-43847716-C-T p.Arg585His missense ADAMTS20 2 82378 2.42783E-5 41189 0 6.37999E-5
12-43847725-C-T p.Arg582His missense ADAMTS20 17 82408 2.06291E-4 41204 0 0.00100705
12-43847726-G-A p.Arg582Cys missense ADAMTS20 4 82416 4.85343E-5 41208 0 6.37999E-5
12-43847731-G-A p.Thr580Ile missense ADAMTS20 1 82434 1.21309E-5 41217 0 4.14007E-6
12-43847741-C-T p.Glu577Lys missense ADAMTS20 4 82464 4.8506E-5 41232 0 3.98735E-5
12-43847742-G-A p.Ile576Ile synonymous ADAMTS20 1 82456 1.21277E-5 41228 0 1.54563E-4
12-43847742-G-T p.Ile576Ile synonymous ADAMTS20 1 82456 1.21277E-5 41228 0 NA
12-43847747-C-T p.Gly575Arg missense ADAMTS20 4 82470 4.85025E-5 41235 0 3.59092E-5
12-43847748-G-A p.Gly574Gly synonymous ADAMTS20 132 82466 0.00160066 41233 2 0.00925062
12-43847758-G-A p.Thr571Ile missense ADAMTS20 2 82516 2.42377E-5 41258 0 3.09336E-5
12-43847759-T-C p.Thr571Ala missense ADAMTS20 1 82516 1.21189E-5 41258 0 1.02252E-5
12-43847767-C-T p.Cys568Tyr missense ADAMTS20 1 82530 1.21168E-5 41265 0 6.37267E-5
12-43847780-G-C p.Pro564Ala missense ADAMTS20 2 82566 2.4223E-5 41283 0 3.18817E-4
12-43847787-T-C p.Pro561Pro synonymous ADAMTS20 2 82560 2.42248E-5 41280 0 NA
12-43847790-T-A p.Gly560Gly synonymous ADAMTS20 2 82566 2.4223E-5 41283 0 7.97976E-6
12-43847800-C-A p.Gly557Val missense ADAMTS20 1 82568 1.21112E-5 41284 0 NA
12-43847802-A-G p.Asn556Asn synonymous ADAMTS20 1 82576 1.21101E-5 41288 0 NA
12-43847806-A-G p.Val555Ala missense ADAMTS20 1 82574 1.21103E-5 41287 0 NA
12-43847812-C-T p.Arg553His missense ADAMTS20 19 82570 2.30108E-4 41285 0 4.00109E-4
12-43847813-G-A p.Arg553Cys missense ADAMTS20 2 82574 2.42207E-5 41287 0 5.03525E-4
12-43847820-C-T p.Thr550Thr synonymous ADAMTS20 1 82568 1.21112E-5 41284 0 7.97913E-6
12-43847821-G-A p.Thr550Met missense ADAMTS20 1 82572 1.21106E-5 41286 0 6.25E-4
12-43847829-G-C p.Asn547Lys missense ADAMTS20 1 82570 1.21109E-5 41285 0 NA
12-43847837-A-G p.Cys545Arg missense ADAMTS20 2 82544 2.42295E-5 41272 0 8.47041E-6
12-43847841-C-T p.Gly543Gly synonymous ADAMTS20 9 82526 1.09057E-4 41263 2 NA
12-43847846-G-A p.His542Tyr missense ADAMTS20 1 82518 1.21186E-5 41259 0 NA
12-43847848-C-T p.Arg541His missense ADAMTS20 1 82516 1.21189E-5 41258 0 2.83098E-5
12-43847849-G-A p.Arg541Cys missense ADAMTS20 1 82506 1.21203E-5 41253 0 9.56023E-5
12-43847856-C-G c.1615-1G>C splice_acceptor ADAMTS20 1 82508 1.212E-5 41254 0 NA
12-43847857-TATA-T c.1615-5_1615-3delTAT splice_region ADAMTS20 1 82504 1.21206E-5 41252 0 NA
12-43856697-C-T c.1614+1G>A splice_donor ADAMTS20 2 82180 2.43368E-5 41090 0 1.85302E-5
12-43856709-C-T p.Gly535Ser missense ADAMTS20 3 82250 3.64742E-5 41125 0 7.95697E-5
12-43856714-T-C p.Asp533Gly missense ADAMTS20 1 82292 1.21518E-5 41146 0 4.16472E-6
12-43856716-T-C p.Thr532Thr synonymous ADAMTS20 1 82304 1.21501E-5 41152 0 1.46464E-5
12-43856717-G-A p.Thr532Ile missense ADAMTS20 2 82332 2.42919E-5 41166 0 NA
12-43856723-T-C p.Asp530Gly missense ADAMTS20 11 82336 1.33599E-4 41168 0 1.24716E-4
12-43856726-G-A p.Ala529Val missense ADAMTS20 1 82340 1.21448E-5 41170 0 1.3574E-5
12-43856727-C-T p.Ala529Thr missense ADAMTS20 1 82348 1.21436E-5 41174 0 NA
12-43856737-G-A p.His525His synonymous ADAMTS20 4 82340 4.85791E-5 41170 0 3.18431E-5
12-43856740-T-C p.Gln524Gln synonymous ADAMTS20 1 82332 1.21459E-5 41166 0 NA
12-43856755-T-C p.Lys519Lys synonymous ADAMTS20 1 82318 1.2148E-5 41159 0 1.27737E-5
12-43856759-T-C p.His518Arg missense ADAMTS20 1 82306 1.21498E-5 41153 0 NA
12-43856775-T-G p.Ser513Arg missense ADAMTS20 3 82210 3.64919E-5 41105 0 1.27364E-4
12-43856790-G-A p.His508Tyr missense ADAMTS20 9 82062 1.09673E-4 41031 0 1.27356E-4
12-43856807-T-C c.1510-5A>G splice_region ADAMTS20 1 81730 1.22354E-5 40865 0 1.38864E-5
12-43858395-A-C p.Ile503Arg missense+splice_region ADAMTS20 5 82384 6.06914E-5 41192 0 1.27405E-4
12-43858395-A-G p.Ile503Thr missense+splice_region ADAMTS20 3 82384 3.64148E-5 41192 0 4.95491E-5
12-43858396-T-C p.Ile503Val missense+splice_region ADAMTS20 10 82386 1.2138E-4 41193 0 5.03525E-4
12-43858398-T-C p.His502Arg missense ADAMTS20 2 82382 2.42771E-5 41191 0 4.00821E-6
12-43858400-G-A p.Pro501Pro synonymous ADAMTS20 1 82366 1.21409E-5 41183 0 NA
12-43858401-G-A p.Pro501Leu missense ADAMTS20 2 82366 2.42819E-5 41183 0 4.00654E-6
12-43858416-C-G p.Gly496Ala missense ADAMTS20 1 82384 1.21383E-5 41192 0 3.99061E-6
12-43858427-C-T p.Ala492Ala synonymous ADAMTS20 4 82374 4.8559E-5 41187 0 3.18573E-5
12-43858454-A-G p.Tyr483Tyr synonymous ADAMTS20 1 82406 1.2135E-5 41203 0 3.18451E-5
12-43858456-A-G p.Tyr483His missense ADAMTS20 33 82416 4.00408E-4 41208 0 9.23685E-4
12-43858458-C-T p.Arg482Gln missense ADAMTS20 1 82428 1.21318E-5 41214 0 4.1229E-5
12-43858459-G-A p.Arg482* stop_gained ADAMTS20 2 82412 2.42683E-5 41206 0 0.00125
12-43858464-C-G p.Gly480Ala missense ADAMTS20 1 82420 1.2133E-5 41210 0 3.18552E-5
12-43858464-C-A p.Gly480Val missense ADAMTS20 1 82420 1.2133E-5 41210 0 NA
12-43858488-T-C p.Tyr472Cys missense ADAMTS20 4 82398 4.85449E-5 41199 0 1.65349E-5
12-43858495-C-CAAAATGTGTTTA p.Glu469_Glu470insTerThrHisPhe stop_gained ADAMTS20 1 82388 1.21377E-5 41194 0 NA
12-43858498-C-T p.Glu469Lys missense ADAMTS20 1 82388 1.21377E-5 41194 0 NA
12-43858522-C-T p.Glu461Lys missense ADAMTS20 1 82316 1.21483E-5 41158 0 NA
12-43858523-C-T p.Gly460Gly synonymous ADAMTS20 2 82312 2.42978E-5 41156 0 NA
12-43858525-C-T p.Gly460Arg missense ADAMTS20 2 82296 2.43025E-5 41148 0 1.04113E-4
12-43858526-G-A p.Tyr459Tyr synonymous ADAMTS20 2 82282 2.43067E-5 41141 0 3.18674E-5
12-43858540-A-C c.1368-5T>G splice_region ADAMTS20 1 82230 1.2161E-5 41115 0 NA
12-43860453-A-T c.1367+2T>A splice_donor ADAMTS20 1 81778 1.22282E-5 40889 0 3.1953E-5
12-43860461-A-C p.Phe454Cys missense ADAMTS20 1 81932 1.22052E-5 40966 0 NA
12-43860463-T-C p.Glu453Glu synonymous ADAMTS20 5 81958 6.10069E-5 40979 0 6.25E-4
12-43860467-G-A p.Thr452Ile missense ADAMTS20 1 81992 1.21963E-5 40996 0 NA
12-43860479-C-T p.Arg448Gln missense ADAMTS20 3 82036 3.65693E-5 41018 0 5.7813E-5
12-43860480-G-A p.Arg448Trp missense ADAMTS20 4 82038 4.87579E-5 41019 0 6.39959E-5
12-43860497-C-G p.Ser442Thr missense ADAMTS20 1 82168 1.21702E-5 41084 0 NA
12-43860497-C-T p.Ser442Asn missense ADAMTS20 1 82168 1.21702E-5 41084 0 3.99699E-6
12-43860499-C-T p.Trp441* stop_gained ADAMTS20 1 82182 1.21681E-5 41091 0 1.91534E-4
12-43860504-G-C p.Pro440Ala missense ADAMTS20 1 82202 1.21652E-5 41101 0 NA
12-43860510-T-G p.Met438Leu missense ADAMTS20 1 82210 1.2164E-5 41105 0 8.25246E-6
12-43860526-A-G p.Pro432Pro synonymous ADAMTS20 27386 81814 0.334735 40907 4767 0.405625
12-43860531-C-T p.Ala431Thr missense ADAMTS20 4 82240 4.86381E-5 41120 0 3.19326E-5
12-43860538-A-G p.His428His synonymous ADAMTS20 8 82258 9.7255E-5 41129 0 1.59845E-5
12-43860539-T-C p.His428Arg missense ADAMTS20 1 82258 1.21569E-5 41129 0 NA
12-43860543-A-C p.Tyr427Asp missense ADAMTS20 1 82240 1.21595E-5 41120 0 4.00061E-6
12-43860561-C-A p.Glu421* stop_gained ADAMTS20 1 82182 1.21681E-5 41091 0 8.27527E-6
12-43860562-T-C p.Lys420Lys synonymous ADAMTS20 1 82168 1.21702E-5 41084 0 2.48266E-5
12-43860569-C-T p.Arg418Lys missense ADAMTS20 1 82114 1.21782E-5 41057 0 NA
12-43860571-A-G p.Pro417Pro synonymous ADAMTS20 1 82116 1.21779E-5 41058 0 4.06395E-6
12-43860575-T-G p.Asn416Thr missense ADAMTS20 1 82054 1.21871E-5 41027 0 NA
12-43860578-T-G p.Asp415Ala missense ADAMTS20 1 82028 1.2191E-5 41014 0 NA
12-43860584-T-C p.His413Arg missense ADAMTS20 2 81998 2.43908E-5 40999 0 4.15721E-6
12-43860593-C-T p.Gly410Asp missense ADAMTS20 29 81846 3.54324E-4 40923 0 1.51773E-4
12-43860599-C-A c.1224-1G>T splice_acceptor ADAMTS20 2 81782 2.44553E-5 40891 0 NA
12-43862403-G-A p.Thr408Ile missense+splice_region ADAMTS20 2 81324 2.4593E-5 40662 0 2.48591E-5
12-43862405-G-A p.His407His splice_region+synonymous ADAMTS20 1 81392 1.22862E-5 40696 0 4.13918E-6
12-43862422-C-T p.Ala402Thr missense ADAMTS20 2 81590 2.45128E-5 40795 0 NA
12-43862431-A-T p.Phe399Ile missense ADAMTS20 4 81662 4.89824E-5 40831 0 1.65106E-5
12-43862432-A-C p.Ala398Ala synonymous ADAMTS20 3 81688 3.67251E-5 40844 0 5.03525E-4
12-43862435-A-G p.Ser397Ser synonymous ADAMTS20 38 81716 4.65025E-4 40858 0 7.96128E-4
12-43862486-T-A p.Ile380Ile synonymous ADAMTS20 2 81590 2.45128E-5 40795 0 1.27462E-4
12-43862488-T-C p.Ile380Val missense ADAMTS20 1 81612 1.22531E-5 40806 0 3.18613E-5
12-43862490-G-A p.Thr379Ile missense ADAMTS20 1 81494 1.22708E-5 40747 0 NA
12-43862498-A-G p.Tyr376Tyr synonymous ADAMTS20 4 81378 4.91533E-5 40689 0 2.86661E-4
12-43862501-T-C p.Ser375Ser synonymous ADAMTS20 1 81276 1.23038E-5 40638 0 NA
12-43884196-A-G c.1117+2T>C splice_donor ADAMTS20 1 76516 1.30692E-5 38258 0 NA
12-43884208-A-G p.Cys369Cys synonymous ADAMTS20 1 76698 1.30381E-5 38349 0 NA
12-43884214-C-T p.Glu367Glu synonymous ADAMTS20 1 76664 1.30439E-5 38332 0 NA
12-43884227-C-G p.Cys363Ser missense ADAMTS20 3 76788 3.90686E-5 38394 0 NA
12-43884239-C-T c.1077-1G>A splice_acceptor ADAMTS20 1 76358 1.30962E-5 38179 0 9.6115E-6
12-43886321-C-T p.Val355Ile missense ADAMTS20 1 82546 1.21145E-5 41273 0 NA
12-43886344-T-C p.His347Arg missense ADAMTS20 26 82554 3.14945E-4 41277 0 2.9062E-4
12-43886346-A-G p.Val346Val synonymous ADAMTS20 2 82562 2.42242E-5 41281 0 NA
12-43886348-C-T p.Val346Ile missense ADAMTS20 1 82560 1.21124E-5 41280 0 8.3062E-6
12-43886359-T-C p.Asp342Gly missense ADAMTS20 1 82562 1.21121E-5 41281 0 9.57182E-5
12-43886378-A-G p.Trp336Arg missense ADAMTS20 2 82548 2.42283E-5 41274 0 3.18796E-5
12-43886382-A-G p.Cys334Cys synonymous ADAMTS20 2 82550 2.42277E-5 41275 0 1.55397E-4
12-43886391-C-A p.Lys331Asn missense ADAMTS20 1 82534 1.21162E-5 41267 0 3.98473E-6
12-43886397-T-C p.Thr329Thr synonymous ADAMTS20 1 82534 1.21162E-5 41267 0 3.18878E-5
12-43886400-G-A p.Thr328Thr synonymous ADAMTS20 1 82530 1.21168E-5 41265 0 NA
12-43886401-G-A p.Thr328Ile missense ADAMTS20 3 82530 3.63504E-5 41265 0 8.35981E-6
12-43886413-A-G p.Phe324Ser missense ADAMTS20 8 82510 9.69579E-5 41255 0 1.67726E-5
12-43886427-T-G p.Gly319Gly synonymous ADAMTS20 1 82494 1.21221E-5 41247 0 NA
12-43886435-A-G c.952-3T>C splice_region ADAMTS20 1 82474 1.2125E-5 41237 0 3.18715E-5
12-43886436-T-C c.952-4A>G splice_region ADAMTS20 3 82474 3.63751E-5 41237 0 1.59429E-4
12-43886436-T-G c.952-4A>C splice_region ADAMTS20 1 82474 1.2125E-5 41237 0 1.19901E-5
12-43886436-T-A c.952-4A>T splice_region ADAMTS20 1 82474 1.2125E-5 41237 0 NA
12-43886974-T-G p.Glu317Ala missense+splice_region ADAMTS20 43 81562 5.27206E-4 40781 0 6.25E-4
12-43886975-CC-TT p.GluGlu316GluLys missense+splice_region ADAMTS20 1 81582 1.22576E-5 40791 0 NA
12-43886976-C-G p.Glu316Asp missense ADAMTS20 1 81596 1.22555E-5 40798 0 5.67498E-6
12-43886976-C-T p.Glu316Glu synonymous ADAMTS20 1 81596 1.22555E-5 40798 0 NA
12-43886980-C-T p.Arg315His missense ADAMTS20 1 81588 1.22567E-5 40794 0 0.00101112
12-43886981-G-A p.Arg315Cys missense ADAMTS20 1 81590 1.22564E-5 40795 0 3.18898E-5
12-43886984-G-A p.His314Tyr missense ADAMTS20 2 81718 2.44744E-5 40859 0 NA
12-43887001-A-C p.Val308Gly missense ADAMTS20 42 81820 5.13322E-4 40910 0 0.0025227
12-43887008-C-T p.Val306Ile missense ADAMTS20 17 81822 2.07768E-4 40911 0 2.8833E-4
12-43887008-C-A p.Val306Leu missense ADAMTS20 1 81822 1.22217E-5 40911 0 0.0010101
12-43887028-A-G p.Ile299Thr missense ADAMTS20 1 81840 1.2219E-5 40920 0 5.75003E-6
12-43887049-G-A p.Thr292Ile missense ADAMTS20 1 81660 1.22459E-5 40830 0 6.21713E-6
12-43887051-T-C p.Ala291Ala synonymous ADAMTS20 1 81636 1.22495E-5 40818 0 3.82614E-5
12-43887052-G-C p.Ala291Gly missense ADAMTS20 8 81634 9.79984E-5 40817 0 0.00254582
12-43887056-C-G p.Val290Leu missense+splice_region ADAMTS20 6 81544 7.35799E-5 40772 0 1.94356E-4
12-43887056-C-A p.Val290Phe missense+splice_region ADAMTS20 6 81542 7.35817E-5 40771 0 7.77424E-5
12-43887056-C-T p.Val290Ile missense+splice_region ADAMTS20 3 81542 3.67909E-5 40771 0 3.19877E-5
12-43887062-T-A c.868-6A>T splice_region ADAMTS20 1 81472 1.22742E-5 40736 0 NA
12-43895972-G-GTATATAGT p.Leu284fs frameshift ADAMTS20 1 82248 1.21584E-5 41124 0 NA
12-43895980-T-G p.Asn281Thr missense ADAMTS20 1 82294 1.21516E-5 41147 0 NA
12-43895984-G-T p.Gln280Lys missense ADAMTS20 2 82290 2.43043E-5 41145 0 3.18532E-5
12-43895991-C-T p.Ser277Ser synonymous ADAMTS20 10 82290 1.21521E-4 41145 0 3.18593E-5
12-43895992-G-A p.Ser277Leu missense ADAMTS20 2 82296 2.43025E-5 41148 0 4.12184E-6
12-43896004-G-A p.Ser273Phe missense ADAMTS20 3 82320 3.64431E-5 41160 0 NA
12-43896006-A-T p.Val272Val synonymous ADAMTS20 1 82324 1.21471E-5 41162 0 9.52944E-6
12-43896012-T-C p.Lys270Lys synonymous ADAMTS20 20 82326 2.42937E-4 41163 0 4.13986E-4
12-43896016-GC-AT p.Ala269Ile missense ADAMTS20 3 82338 3.64352E-5 41169 0 NA
12-43896030-C-T p.Met264Ile missense ADAMTS20 2 82358 2.42842E-5 41179 0 4.01613E-6
12-43896041-T-C p.Ile261Val missense ADAMTS20 1 82346 1.21439E-5 41173 0 8.53913E-6
12-43896064-C-T p.Arg253His missense ADAMTS20 3 82354 3.64281E-5 41177 0 1.27486E-4
12-43896064-CG-C p.Arg253fs frameshift ADAMTS20 1 82354 1.21427E-5 41177 0 NA
12-43896065-G-A p.Arg253Cys missense ADAMTS20 3 82358 3.64263E-5 41179 0 9.6446E-5
12-43896068-T-G p.Lys252Gln missense ADAMTS20 1 82348 1.21436E-5 41174 0 NA
12-43896078-A-G p.His248His synonymous ADAMTS20 1 82344 1.21442E-5 41172 0 NA
12-43896079-T-C p.His248Arg missense ADAMTS20 4 82344 4.85767E-5 41172 0 8.27732E-6
12-43896095-T-C p.Lys243Glu missense ADAMTS20 2 82346 2.42878E-5 41173 0 3.18613E-5
12-43896096-C-T p.Leu242Leu synonymous ADAMTS20 3 82346 3.64316E-5 41173 0 NA
12-43896103-A-T p.Val240Glu missense ADAMTS20 1 82322 1.21474E-5 41161 0 2.47639E-5
12-43896105-A-C p.Asn239Lys missense ADAMTS20 3 82328 3.64396E-5 41164 0 3.18756E-5
12-43896105-A-AT p.Asn239fs frameshift ADAMTS20 1 82328 1.21465E-5 41164 0 NA
12-43896114-T-C p.Thr236Thr synonymous ADAMTS20 1 82326 1.21468E-5 41163 0 4.00051E-6
12-43896115-G-A p.Thr236Ile missense ADAMTS20 1 82328 1.21465E-5 41164 0 4.00343E-6
12-43896122-C-T p.Gly234Arg missense ADAMTS20 1 82318 1.2148E-5 41159 0 8.04835E-6
12-43896139-A-T p.Met228Lys missense ADAMTS20 1 82270 1.21551E-5 41135 0 8.2428E-6
12-43896139-A-G p.Met228Thr missense ADAMTS20 2 82270 2.43102E-5 41135 0 NA
12-43896141-T-TGA p.Met228fs frameshift ADAMTS20 1 82256 1.21572E-5 41128 0 NA
12-43896143-CA-GT p.AsnVal226LysLeu missense ADAMTS20 1 82254 1.21575E-5 41127 0 NA
12-43896144-A-G p.Asn226Asn synonymous ADAMTS20 1 82252 1.21578E-5 41126 0 NA
12-43896145-T-G p.Asn226Thr missense ADAMTS20 1 82244 1.21589E-5 41122 0 1.64848E-5
12-43896147-A-AGTTT p.Val227fs frameshift ADAMTS20 1 82238 1.21598E-5 41119 0 NA
12-43896161-T-G p.Met221Leu missense ADAMTS20 436 82210 0.00530349 41105 8 0.0110254
12-43896161-T-C p.Met221Val missense ADAMTS20 2 82224 2.43238E-5 41112 0 6.37308E-5
12-43896165-G-T p.Ser219Arg missense ADAMTS20 1 82206 1.21646E-5 41103 0 2.85488E-5
12-43896172-G-A p.Thr217Ile missense ADAMTS20 2 82200 2.43309E-5 41100 0 NA
12-43896179-A-G p.Phe215Leu missense ADAMTS20 1 82168 1.21702E-5 41084 0 NA
12-43896181-G-A p.Pro214Leu missense ADAMTS20 1 82136 1.21749E-5 41068 0 6.38814E-5
12-43896198-T-C p.Ile208Met missense ADAMTS20 1 82068 1.2185E-5 41034 0 NA
12-43896200-T-C p.Ile208Val missense ADAMTS20 1 82064 1.21856E-5 41032 0 NA
12-43925841-G-C p.Ser204* stop_gained ADAMTS20 8 80422 9.94753E-5 40211 0 7.0412E-5
12-43925848-T-A p.Ser202Cys missense ADAMTS20 1 81420 1.2282E-5 40710 0 8.4995E-6
12-43925854-A-G p.Tyr200His missense ADAMTS20 6 81796 7.33532E-5 40898 0 1.59429E-4
12-43925856-T-A p.Lys199Met missense ADAMTS20 1 81896 1.22106E-5 40948 0 8.41751E-6
12-43925859-A-G p.Leu198Pro missense ADAMTS20 1 81930 1.22055E-5 40965 0 2.86364E-5
12-43925865-T-G p.Gln196Pro missense ADAMTS20 7 82056 8.53076E-5 41028 0 6.51248E-5
12-43925883-A-C p.Leu190* stop_gained ADAMTS20 5 82252 6.07888E-5 41126 0 8.08016E-6
12-43925896-A-G p.Tyr186His missense ADAMTS20 4 82344 4.85767E-5 41172 0 NA
12-43925902-G-A p.Leu184Phe missense ADAMTS20 2 82364 2.42825E-5 41182 0 7.99782E-6
12-43925904-T-A p.His183Leu missense ADAMTS20 13 82364 1.57836E-4 41182 0 6.36983E-5
12-43925914-T-C p.Asn180Asp missense ADAMTS20 1 82322 1.21474E-5 41161 0 NA
12-43925918-A-T p.Gly178Gly synonymous ADAMTS20 3 82272 3.64644E-5 41136 0 1.99914E-5