Table Of Content

Tumour Gene cDNA annotation Protein annotation Effect PD2185a ABCD4 1680C>T S560S silent BB65-RCC ABCD4 910G>A A304T missense BB65-RCC ABCD4 184T>C L62L silent LB996-RCC ABCD4 981C>A L327L silent BB65-RCC ABCD4 981C>A L327L silent BB65-RCC ABCD4 1102G>A E368K missense LB996-RCC ABCD4 1102G>A E368K missense PD2183a ABHD2 1099A>C M367L missense PD2204a ABHD2 1260G>A V420V silent PD2133a ABHD2 1200C>T Y400Y silent PD2149a ABHD2 1200C>T Y400Y silent PD2218a ABHD2 1200C>T Y400Y silent PD2199a ABHD2 1200C>T Y400Y silent BB65-RCC ACBD3 561A>C E187D missense LB996-RCC ACBD3 561A>C E187D missense HA7-RCC ACBD3 561A>C E187D missense PD2191a ACD 338G>A R113Q missense LB996-RCC ACD 1544T>C V515A missense LB1047-RCCACD 1544T>C V515A missense LB2241-RCCACD 1544T>C V515A missense PD2134a ACLY 1123A>G I375V missense BB65-RCC ACLY 525A>C E175D missense PD2185a ACO1 1557A>C E519D missense PD2204a ACO1 1456G>A G486R missense PD2178a ACO1 1456G>A G486R missense PD2180a ACO1 2180T>C I727T missense PD2148a ACO1 367G>A V123I missense BB65-RCC ACO1 1929C>A I643I silent BB65-RCC ACO1 85G>T D29Y missense LB996-RCC ACO1 1263A>G E421E silent LB1047-RCCACO1 1263A>G E421E silent LB2241-RCCACO1 1263A>G E421E silent HA7-RCC ACO2 670C>T L224L silent LB996-RCC ACO2 670C>T L224L silent BB65-RCC ACO2 670C>T L224L silent LB996-RCC ACSL3 726G>A P242P silent PD2201a ACSL6 1273G>A E425K missense PD2146a ACSS2 542C>T A181V missense LB996-RCC ACSS2 276C>T F92F silent HA7-RCC ACSS2 276C>T F92F silent BB65-RCC ACSS2 276C>T F92F silent PD2129a ACYP1 89A>C E30A missense PD2153a ACYP1 63G>A V21V silent PD1582a ADA 180C>T D60D silent HA7-RCC ADAM11 2220T>C I740I silent LB996-RCC ADAM11 2220T>C I740I silent BB65-RCC ADAM11 2220T>C I740I silent LB1047-RCCADAM11 2220T>C I740I silent LB2241-RCCADAM11 2220T>C I740I silent PD2201a ADAM12 212G>A R71Q missense PD2141a ADAM12 212G>A R71Q missense HA7-RCC ADAM12 411G>A T137T silent LB2241-RCCADAM12 1818C>T P606P silent HA7-RCC ADAM12 2475T>C A825A silent BB65-RCC ADAM12 2475T>C A825A silent BB65-RCC ADAM12 142G>C G48R missense LB1047-RCCADAM12 142G>C G48R missense LB2241-RCCADAM12 142G>T G48W missense PD2164a ADAM15 1685G>A R562H missense PD1759a ADAM15 1437G>A Q479Q silent HA7-RCC ADAM15 1647A>C T549T silent LB2241-RCCADAM15 1647A>C T549T silent HA7-RCC ADAM15 501G>T S167S silent LB996-RCC ADAM15 501G>T S167S silent LB2241-RCCADAM15 501G>T S167S silent LB2241-RCCADAM15 572A>C K191T missense LB996-RCC ADAM15 2277G>A K759K silent PD2133a ADAM17 148A>G I50V missense PD2178a ADAM17 604A>G R202G missense PD2134a ADAM17 2017G>A V673I missense PD2210a ADAM17 2017G>A V673I missense BB65-RCC ADAM17 1824T>C S608S silent LB1047-RCCADAM17 1824T>C S608S silent LB2241-RCCADAM17 1824T>C S608S silent PD2178a ADAM18 425A>T Q142L missense PD1754a ADAM18 425A>T Q142L missense PD2162a ADAM18 1491T>C T497T silent PD2152a ADAM18 1491T>C T497T silent LB996-RCC ADAM18 Exon 3 -3 T>C Splice non-coding PD2125a ADAM19 2503C>G P835A missense PD1580a ADAM19 2545G>A V849I missense LB996-RCC ADAM19 190C>T L64F missense LB996-RCC ADAM19 2221T>G S741A missense HA7-RCC ADAM19 853A>G S285G missense LB1047-RCCADAM19 853A>G S285G missense PD2209a ADAM20 2299C>T R767C missense LB996-RCC ADAM22 242C>G P81R missense LB1047-RCCADAM22 242C>G P81R missense PD1590a ADAM23 319A>G M107V missense PD2156a ADAM23 2338C>G P780A missense LB996-RCC ADAM23 2085C>T A695A silent PD2209a ADAM28 1498G>A G500R missense PD2203a ADAM28 1498G>A G500R missense PD2178a ADAM28 1478A>G N493S missense BB65-RCC ADAM28 Exon 12 +4 T>C Splice non-coding PD1753a ADAM29 193A>T I65F missense PD2222a ADAM29 14T>C L5P missense PD2164a ADAM29 195C>T I65I silent LB2241-RCCADAM29 985G>A A329T missense PD1582a ADAM30 1223A>G E408G missense PD2129a ADAM30 133A>G I45V missense PD2147a ADAM30 481C>G L161V missense PD2218a ADAM32 2331C>A D777E missense PD2182a ADAM32 2331C>A D777E missense HA7-RCC ADAM33 2151G>C G717G silent BB65-RCC ADAM33 2151G>C G717G silent HA7-RCC ADAM33 532A>G T178A missense PD2127a ADAM7 649C>T H217Y missense PD2213a ADAM7 Exon 5 +5 T>C Splice non-coding PD1582a ADAM7 1260T>C P420P silent PD2194a ADAM7 1260T>C P420P silent PD2184a ADAM7 1260T>C P420P silent PD2147a ADAM7 1260T>C P420P silent PD2160a ADAM7 108T>C P36P silent BB65-RCC ADAM7 1815G>A A605A silent LB1047-RCCADAM7 2187G>A L729L silent PD1759a ADAM9 226G>A E76K missense PD2190a ADAM9 226G>A E76K missense PD2149a ADAMDEC1 1261C>T P421S missense PD1769a ADAMDEC1 1261C>T P421S missense PD2178a ADAMDEC1 1315C>T P439S missense PD2183a ADAMDEC1 1315C>T P439S missense PD2178a ADAMDEC1 765A>T I255I silent PD2178a ADAMDEC1 888T>C S296S silent PD2178a ADAMTS1 1891G>A E631K missense PD2142a ADAMTS1 2108G>A R703H missense PD2221a ADAMTS1 2108G>A R703H missense PD1580a ADAMTS1 2108G>A R703H missense PD2208a ADAMTS1 2108G>A R703H missense PD2189a ADAMTS1 2108G>A R703H missense PD2166a ADAMTS1 2108G>A R703H missense PD2150a ADAMTS1 2108G>A R703H missense PD2125a ADAMTS1 412G>T A138S missense PD2139a ADAMTS1 412G>T A138S missense PD2218a ADAMTS1 2345A>G D782G missense PD2176a ADAMTS1 625G>A G209R missense PD2164a ADAMTS1 676G>A G226R missense PD2146a ADAMTS1 2434C>T R812C missense LB996-RCC ADAMTS1 1500C>T P500P silent BB65-RCC ADAMTS1 1500C>T P500P silent HA7-RCC ADAMTS1 600C>G V200V silent HA7-RCC ADAMTS1 582C>A V194V silent HA7-RCC ADAMTS1 679G>C A227P missense LB996-RCC ADAMTS1 582C>A V194V silent LB996-RCC ADAMTS1 679G>C A227P missense BB65-RCC ADAMTS1 582C>A V194V silent BB65-RCC ADAMTS1 679G>C A227P missense LB1047-RCCADAMTS1 582C>A V194V silent LB1047-RCCADAMTS1 679G>C A227P missense LB2241-RCCADAMTS1 582C>A V194V silent LB2241-RCCADAMTS1 679G>C A227P missense PD2180a ADAMTS10 2584G>T A862S missense BB65-RCC ADAMTS10 217G>A E73K missense LB1047-RCCADAMTS10 401C>G T134S missense LB996-RCC ADAMTS10 2283T>C P761P silent LB2241-RCCADAMTS10 2283T>C P761P silent LB1047-RCCADAMTS10 2283T>C P761P silent PD2133a ADAMTS12 890G>A R297Q missense PD2153a ADAMTS12 3355C>T L1119F missense PD2136a ADAMTS12 25C>T L9F missense PD1582a ADAMTS12 25C>T L9F missense PD2167a ADAMTS12 25C>T L9F missense PD2185a ADAMTS12 25C>T L9F missense PD2155a ADAMTS12 25C>T L9F missense PD2182a ADAMTS12 3602C>T T1201I missense PD2130a ADAMTS12 461C>T T154M missense PD2142a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2160a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2146a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2161a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2177a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2193a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2217a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2162a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2218a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2134a ADAMTS12 1404C>T P468P silent LB996-RCC ADAMTS12 1496T>A L499Q missense BB65-RCC ADAMTS12 2049T>C D683D silent LB2241-RCCADAMTS12 2049T>C D683D silent LB2241-RCCADAMTS12 4484C>T T1495I missense LB2241-RCCADAMTS12 4240C>A P1414T missense PD2199a ADAMTS13 3287G>A R1096H missense PD2204a ADAMTS13 500C>T T167M missense HA7-RCC ADAMTS13 1716A>G T572T silent LB1047-RCCADAMTS13 1716A>G T572T silent LB2241-RCCADAMTS13 4221C>A T1407T silent HA7-RCC ADAMTS13 2280C>T G760G silent BB65-RCC ADAMTS13 2280C>T G760G silent LB1047-RCCADAMTS13 2280C>T G760G silent LB996-RCC ADAMTS13 2699C>T A900V missense PD2213a ADAMTS14 988C>T R330C missense PD2207a ADAMTS14 516C>T D172D silent HA7-RCC ADAMTS14 1974G>A T658T silent LB1047-RCCADAMTS14 2818C>A L940M missense LB1047-RCCADAMTS14 3639A>G R1213R silent LB2241-RCCADAMTS14 3639A>G R1213R silent LB996-RCC ADAMTS14 1778T>C L593P missense BB65-RCC ADAMTS14 1778T>C L593P missense HA7-RCC ADAMTS14 1778T>C L593P missense LB996-RCC ADAMTS14 1878C>G S626S silent BB65-RCC ADAMTS14 1878C>G S626S silent LB2241-RCCADAMTS14 1878C>G S626S silent HA7-RCC ADAMTS14 1878C>G S626S silent PD2215a ADAMTS15 238T>G S80A missense PD2134a ADAMTS15 1324T>C Y442H missense PD2142a ADAMTS15 2280C>T S760S silent PD2130a ADAMTS15 2280C>T S760S silent BB65-RCC ADAMTS15 1698T>C N566N silent LB2241-RCCADAMTS15 1698T>C N566N silent PD2216a ADAMTS16 3206G>A R1069Q missense BB65-RCC ADAMTS16 1146C>T H382H silent HA7-RCC ADAMTS16 1350C>T C450C silent LB996-RCC ADAMTS16 1350C>T C450C silent BB65-RCC ADAMTS16 1350C>T C450C silent LB1047-RCCADAMTS16 1350C>T C450C silent LB2241-RCCADAMTS16 1350C>T C450C silent HA7-RCC ADAMTS16 310T>C S104P missense HA7-RCC ADAMTS16 268C>G P90A missense LB2241-RCCADAMTS16 2200G>A V734I missense BB65-RCC ADAMTS16 Exon 9 -3 ins TC Splice non-coding PD2139a ADAMTS17 1288T>C S430P missense PD2127a ADAMTS17 2799C>T C933C silent PD2190a ADAMTS17 2439T>C S813S silent LB2241-RCCADAMTS17 647C>T S216L missense LB1047-RCCADAMTS17 2472C>T I824I silent LB2241-RCCADAMTS17 756C>T A252A silent BB65-RCC ADAMTS17 1962C>T D654D silent LB2241-RCCADAMTS17 1962C>T D654D silent LB2241-RCCADAMTS17 1053G>A K351K silent LB996-RCC ADAMTS17 Exon 18 +6 A>G Splice non-coding PD2183a ADAMTS18 3628G>A G1210R missense PD2150a ADAMTS18 637C>T R213W missense PD2130a ADAMTS18 3565G>A V1189I missense PD2142a ADAMTS18 3565G>A V1189I missense PD1593a ADAMTS18 3608T>C V1203A missense LB996-RCC ADAMTS18 1876T>A L626I missense LB1047-RCCADAMTS18 1876T>A L626I missense LB2241-RCCADAMTS18 1876T>A L626I missense HA7-RCC ADAMTS18 3476G>C S1159T missense LB996-RCC ADAMTS18 3476G>C S1159T missense HA7-RCC ADAMTS18 3144C>T C1048C silent HA7-RCC ADAMTS18 2931G>A V977V silent HA7-RCC ADAMTS18 2836G>T A946S missense LB996-RCC ADAMTS18 571T>C Y191H missense LB1047-RCCADAMTS18 571T>C Y191H missense LB2241-RCCADAMTS18 571T>C Y191H missense PD2176a ADAMTS19 2694T>C T898T silent PD2199a ADAMTS2 1308G>A A436A silent PD2178a ADAMTS2 1281C>T D427D silent PD2197a ADAMTS2 1488C>T F496F silent HA7-RCC ADAMTS2 2028C>T D676D silent LB1047-RCCADAMTS2 2028C>T D676D silent LB2241-RCCADAMTS2 321T>C S107S silent HA7-RCC ADAMTS2 2532C>T D844D silent BB65-RCC ADAMTS2 2532C>T D844D silent LB1047-RCCADAMTS2 2532C>T D844D silent PD2204a ADAMTS20 1658G>A R553H missense PD2130a ADAMTS20 5032C>T Q1678* nonsense PD2160a ADAMTS20 3093C>T S1031S silent LB1047-RCCADAMTS20 5352A>G R1784R silent LB1047-RCCADAMTS20 5400T>G T1800T silent LB2241-RCCADAMTS20 5352A>G R1784R silent LB2241-RCCADAMTS20 5400T>G T1800T silent BB65-RCC ADAMTS20 5352A>G R1784R silent BB65-RCC ADAMTS20 5400T>G T1800T silent HA7-RCC ADAMTS20 5352A>G R1784R silent HA7-RCC ADAMTS20 5400T>G T1800T silent PD2221a ADAMTS3 1537C>A P513T missense PD2219a ADAMTS3 1537C>A P513T missense PD2164a ADAMTS3 1537C>A P513T missense PD2171a ADAMTS3 1347T>C Y449Y silent HA7-RCC ADAMTS3 413G>A R138K missense LB996-RCC ADAMTS3 413G>A R138K missense HA7-RCC ADAMTS3 Exon 2 -7 del(T) Splice non-coding LB996-RCC ADAMTS3 Exon 2 -3 del(C) Splice non-coding PD2197a ADAMTS4 298T>C S100P missense PD1766a ADAMTS4 298T>C S100P missense PD2150a ADAMTS4 2091C>T Y697Y silent LB1047-RCCADAMTS4 437G>A G146E missense LB1047-RCCADAMTS4 229G>A A77T missense LB2241-RCCADAMTS4 229G>A A77T missense BB65-RCC ADAMTS4 1877A>G Q626R missense LB2241-RCCADAMTS4 1877A>G Q626R missense LB996-RCC ADAMTS4 229G>A A77T missense LB996-RCC ADAMTS5 1841G>A R614H missense LB1047-RCCADAMTS5 1841G>A R614H missense BB65-RCC ADAMTS5 2075T>C L692P missense LB2241-RCCADAMTS5 2075T>C L692P missense HA7-RCC ADAMTS5 413G>C G138A missense PD2136a ADAMTS7 226C>T R76* nonsense HA7-RCC ADAMTS7 387C>T H129H silent LB996-RCC ADAMTS7 240C>G A80A silent LB996-RCC ADAMTS7 252A>G L84L silent LB996-RCC ADAMTS7 344G>C G115A missense LB996-RCC ADAMTS7 387C>T H129H silent BB65-RCC ADAMTS7 240C>G A80A silent LB1047-RCCADAMTS7 387C>T H129H silent LB2241-RCCADAMTS7 387C>T H129H silent HA7-RCC ADAMTS8 2374A>G T792A missense PD1593a ADAMTS9 5798G>A R1933Q missense PD2164a ADAMTS9 5798G>A R1933Q missense PD2204a ADAMTS9 5022C>G D1674E missense PD2171a ADAMTS9 5022C>G D1674E missense PD2168a ADAMTS9 5022C>G D1674E missense PD2180a ADAMTS9 5022C>G D1674E missense PD2221a ADAMTS9 5742A>G K1914K silent LB1047-RCCADAMTS9 5219A>G K1740R missense PD2148a ADAMTSL1 1128C>G P376P silent PD2178a ADAMTSL1 105A>G L35L silent HA7-RCC ADAMTSL1 153T>A G51G silent LB2241-RCCADAMTSL1 153T>A G51G silent HA7-RCC ADAMTSL1 1353A>G T451T silent PD2207a ADAMTSL3 14C>T T5M missense PD2136a ADAMTSL3 3486G>A S1162S silent LB1047-RCCADAMTSL3 2379C>T G793G silent LB996-RCC ADAMTSL3 2910T>C H970H silent BB65-RCC ADAMTSL3 2910T>C H970H silent HA7-RCC ADAMTSL3 1746G>A P582P silent HA7-RCC ADAMTSL3 1761T>C R587R silent LB1047-RCCADAMTSL3 1761T>C R587R silent LB1047-RCCADAMTSL3 1981G>T V661L missense HA7-RCC ADAMTSL3 437A>G H146R missense LB996-RCC ADAMTSL3 437A>G H146R missense BB65-RCC ADAMTSL3 437A>G H146R missense LB1047-RCCADAMTSL3 437A>G H146R missense LB1047-RCCADAMTSL3 4979C>T T1660I missense PD2166a ADH4 208G>A E70K missense PD2162a ADH4 97A>G K33E missense LB1047-RCCADH4 1051C>T L351L silent HA7-RCC ADH4 1120G>A V374I missense LB996-RCC ADH4 1120G>A V374I missense LB2241-RCCADH4 1120G>A V374I missense PD2178a ADH6 340A>G I114V missense PD1593a ADH6 680A>C K227T missense PD1590a ADH6 132C>T T44T silent PD2140a ADH7 107T>G I36S missense PD2222a ADH7 846G>T G282G silent HA7-RCC ADH7 690G>A R230R silent LB996-RCC ADH7 690G>A R230R silent HA7-RCC ADH7 275G>C G92A missense PD2189a ADHFE1 58C>G L20V missense BB65-RCC ADHFE1 972G>C T324T silent LB2241-RCCADORA2B 457_459delAAC N153_C154>C in frame deletion LB1047-RCCADRA2B 1173A>C G391G silent LB996-RCC ADRB1 145A>G S49G missense PD2191a ADSL 1308T>G I436M missense PD2183a AFF1 2499C>G I833M missense PD2178a AFF1 457C>A P153T missense PD2183a AFF1 99A>G A33A silent PD2133a AFF3 1429C>A H477N missense PD2183a AFF3 912C>T A304A silent PD2207a AFF3 912C>T A304A silent PD2171a AFF3 912C>T A304A silent HA7-RCC AFF3 2209G>A A737T missense BB65-RCC AFF3 1263C>T A421A silent LB1047-RCCAFF3 1263C>T A421A silent HA7-RCC AFF3 1263C>T A421A silent LB2241-RCCAFF3 1263C>T A421A silent LB996-RCC AFF3 2124C>G S708S silent BB65-RCC AFF4 673C>G R225G missense HA7-RCC AFF4 2007C>T P669P silent PD2207a AGER 229C>T R77C missense PD1593a AGER 229C>T R77C missense PD2161a AGER 229C>T R77C missense PD2160a AGER 229C>T R77C missense LB2241-RCCAGER 267C>G V89V silent LB2241-RCCAGER 6T>A A2A silent HA7-RCC AGER 6T>A A2A silent LB996-RCC AGER 6T>A A2A silent BB65-RCC AGER 6T>A A2A silent LB1047-RCCAGER 6T>A A2A silent LB2241-RCCAGT 620C>T T207M missense LB2241-RCCAGT 803T>C M268T missense HA7-RCC AGT 1116A>G L372L silent LB1047-RCCAGT 1116A>G L372L silent LB2241-RCCAGT 1116A>G L372L silent PD2138a AHI1 2488C>T R830W missense PD2134a AHI1 2488C>T R830W missense PD2187a AHI1 2488C>T R830W missense PD2218a AHI1 2488C>T R830W missense PD2146a AHI1 2488C>T R830W missense PD2183a AHI1 3164C>T T1055M missense PD2185a AHI1 3222C>A R1074R silent LB996-RCC AHI1 1643G>A R548H missense PD2217a AHR 1468A>G M490V missense PD2217a AHR 1708G>A V570I missense HA7-RCC AHR 132T>C N44N silent PD2190a AHRR 1780C>G P594A missense PD2199a AHRR 885C>T S295S silent PD2131a AHRR 885C>T S295S silent PD1580a AHRR 885C>T S295S silent PD1766a AHRR 885C>T S295S silent HA7-RCC AHRR 1921G>C D641H missense LB996-RCC AHRR 1921G>C D641H missense LB1047-RCCAHRR 1921G>C D641H missense PD2204a AHSA1 315C>T I105I silent LB996-RCC AHSA1 945G>A T315T silent BB65-RCC AHSA1 945G>A T315T silent LB1047-RCCAHSA1 945G>A T315T silent LB2241-RCCAHSA1 945G>A T315T silent BB65-RCC AHSA1 133C>T L45L silent LB1047-RCCAHSA1 133C>T L45L silent LB2241-RCCAHSA1 133C>T L45L silent LB996-RCC AHSA1 294A>G Q98Q silent BB65-RCC AHSA1 294A>G Q98Q silent LB1047-RCCAHSA1 294A>G Q98Q silent LB2241-RCCAHSA1 294A>G Q98Q silent BB65-RCC AHSA1 Exon 6 +7 A>C Splice non-coding LB1047-RCCAHSA1 Exon 6 +7 A>C Splice non-coding LB2241-RCCAHSA1 Exon 6 +7 A>C Splice non-coding PD2215a AHSA2 206_208delAGA K69_I70>I in frame deletion PD2191a AHSA2 206_208delAGA K69_I70>I in frame deletion PD2183a AICDA 299G>C G100A missense LB996-RCC AICDA 465C>T H155H silent LB1047-RCCAICDA 465C>T H155H silent HA7-RCC AICDA 465C>T H155H silent LB2241-RCCAICDA 465C>T H155H silent BB65-RCC AIFM1 1463A>G Y488C missense BB65-RCC AIFM1 1475A>G Y492C missense LB2241-RCCAIFM1 273T>C D91D silent HA7-RCC AIFM1 261T>C D87D silent HA7-RCC AIFM1 273T>C D91D silent LB2241-RCCAIFM1 261T>C D87D silent LB1047-RCCAIFM1 261T>C D87D silent LB1047-RCCAIFM1 273T>C D91D silent PD2178a AK1 484G>A A162T missense PD2178a AK1 102C>T Y34Y silent PD1593a AK2 171C>A G57G silent PD2156a AK2 504C>T T168T silent HA7-RCC AK3L1 465G>A P155P silent LB1047-RCCAK3L1 465G>A P155P silent LB2241-RCCAK3L1 465G>A P155P silent PD2216a AK5 1684_1685insATT F562>YF in frame insertion PD2198a AK5 1684_1685insATT F562>YF in frame insertion PD1764a AK5 1684_1685insATT F562>YF in frame insertion PD1582a AK5 1684_1685insATT F562>YF in frame insertion PD2127a AK5 1684_1685insATT F562>YF in frame insertion PD2183a AK5 1684_1685insATT F562>YF in frame insertion PD2152a AK5 1684_1685insATT F562>YF in frame insertion PD1593a AK5 1684_1685insATT F562>YF in frame insertion PD2129a AK5 1684_1685insATT F562>YF in frame insertion PD2160a AK5 1684_1685insATT F562>YF in frame insertion PD2192a AK5 1684_1685insATT F562>YF in frame insertion PD2176a AK5 1684_1685insATT F562>YF in frame insertion PD2197a AK5 1684_1685insATT F562>YF in frame insertion PD2188a AK5 1684_1685insATT F562>YF in frame insertion PD2172a AK5 1684_1685insATT F562>YF in frame insertion PD2187a AK5 1684_1685insATT F562>YF in frame insertion PD2171a AK5 1684_1685insATT F562>YF in frame insertion PD2177a AK5 1684_1685insATT F562>YF in frame insertion PD1769a AK5 1684_1685insATT F562>YF in frame insertion PD2173a AK5 1684_1685insATT F562>YF in frame insertion PD2133a AK5 1315A>G I439V missense PD1582a AK5 465A>G R155R silent HA7-RCC AK5 1684_1685insATT F562>YF in frame insertion BB65-RCC AK5 348A>G A116A silent PD2198a AK7 1561G>A V521I missense PD2131a AK7 1632G>A A544A silent LB996-RCC AK7 305G>A R102Q missense LB996-RCC AK7 1167C>G N389K missense HA7-RCC AK7 1167C>G N389K missense LB1047-RCCAK7 1167C>G N389K missense BB65-RCC AK7 1167C>G N389K missense LB2241-RCCAK7 1167C>G N389K missense PD2170a AKAP1 1644G>A L548L silent PD2202a AKAP1 1425G>A P475P silent HA7-RCC AKAP1 988A>G S330G missense LB2241-RCCAKAP1 988A>G S330G missense HA7-RCC AKAP1 967G>A G323S missense HA7-RCC AKAP1 891T>C D297D silent LB2241-RCCAKAP1 967G>A G323S missense LB2241-RCCAKAP1 891T>C D297D silent HA7-RCC AKAP1 53C>T A18V missense LB2241-RCCAKAP1 53C>T A18V missense BB65-RCC AKAP1 378T>C D126D silent LB1047-RCCAKAP1 378T>C D126D silent LB2241-RCCAKAP1 378T>C D126D silent LB1047-RCCAKAP1 2172C>T F724F silent LB1047-RCCAKAP1 Exon 4 +7 G>C Splice non-coding BB65-RCC AKAP10 746G>A R249H missense LB2241-RCCAKAP10 746G>A R249H missense BB65-RCC AKAP10 1936A>G I646V missense LB2241-RCCAKAP10 1936A>G I646V missense PD2194a AKAP11 2705A>G E902G missense PD2178a AKAP11 4573G>A G1525S missense PD1768a AKAP11 3209A>G H1070R missense PD2171a AKAP11 1713_1714AG>CC K571_G572>NR missense PD1579a AKAP11 1713_1714AG>CC K571_G572>NR missense PD2178a AKAP11 4230A>C L1410F missense PD1754a AKAP11 4876C>T R1626C missense PD2198a AKAP11 5622G>A V1874V silent LB1047-RCCAKAP11 3951G>A P1317P silent LB996-RCC AKAP11 3408A>C T1136T silent PD2215a AKAP12 5067G>T E1689D missense PD1593a AKAP12 5067G>T E1689D missense PD1759a AKAP12 5067G>T E1689D missense PD2136a AKAP12 5067G>T E1689D missense PD2185a AKAP12 5067G>T E1689D missense PD2203a AKAP12 5067G>T E1689D missense PD2148a AKAP12 5067G>T E1689D missense PD2173a AKAP12 314C>T T105I missense PD2136a AKAP12 3286G>A V1096I missense PD2161a AKAP12 3286G>A V1096I missense PD2185a AKAP12 3286G>A V1096I missense PD2183a AKAP12 3286G>A V1096I missense LB1047-RCCAKAP12 1164G>A S388S silent LB996-RCC AKAP12 1371T>C A457A silent BB65-RCC AKAP12 1371T>C A457A silent LB1047-RCCAKAP12 1371T>C A457A silent LB2241-RCCAKAP12 1371T>C A457A silent LB996-RCC AKAP12 2659A>T S887C missense LB1047-RCCAKAP12 2759A>G E920G missense LB2241-RCCAKAP12 2659A>T S887C missense LB1047-RCCAKAP12 4063G>A E1355K missense LB1047-RCCAKAP12 4744G>A V1582M missense BB65-RCC AKAP12 646A>C K216Q missense LB1047-RCCAKAP12 646A>C K216Q missense LB2241-RCCAKAP12 646A>C K216Q missense LB996-RCC AKAP12 315A>G T105T silent LB1047-RCCAKAP12 315A>G T105T silent LB2241-RCCAKAP12 315A>G T105T silent HA7-RCC AKAP12 4596_4597insGGA D1532_L1533insG in frame insertion PD2140a AKAP13 5548C>T P1850S missense PD2125a AKAP13 5548C>T P1850S missense PD2130a AKAP13 6090G>A A2030A silent PD2149a AKAP13 7611C>T S2537S silent PD2218a AKAP13 1917A>G S639S silent PD2136a AKAP13 1917A>G S639S silent PD2126a AKAP13 1932C>T S644S silent PD2167a AKAP13 1932C>T S644S silent PD2187a AKAP13 6252G>A V2084V silent LB996-RCC AKAP13 7686C>T L2562L silent LB1047-RCCAKAP13 7686C>T L2562L silent LB1047-RCCAKAP13 2534T>G V845G missense BB65-RCC AKAP13 1720C>T R574C missense LB2241-RCCAKAP13 1720C>T R574C missense LB2241-RCCAKAP13 1871G>T G624V missense LB2241-RCCAKAP13 3647T>C M1216T missense BB65-RCC AKAP13 3647T>C M1216T missense BB65-RCC AKAP13 1355T>C M452T missense BB65-RCC AKAP13 1480T>C W494R missense LB2241-RCCAKAP13 1355T>C M452T missense LB2241-RCCAKAP13 1480T>C W494R missense LB996-RCC AKAP13 1871G>T G624V missense BB65-RCC AKAP13 2065G>A E689K missense BB65-RCC AKAP13 2534T>C V845A missense BB65-RCC AKAP13 2689G>A V897M missense LB2241-RCCAKAP13 2534T>C V845A missense LB2241-RCCAKAP13 2689G>A V897M missense LB1047-RCCAKAP13 2689G>A V897M missense LB996-RCC AKAP13 3413A>G D1138G missense LB996-RCC AKAP13 7381G>A G2461S missense BB65-RCC AKAP13 8135C>T P2712L missense LB1047-RCCAKAP13 8135C>T P2712L missense BB65-RCC AKAP13 Exon 36 +2 C>T Splice non-coding LB1047-RCCAKAP13 Exon 36 +2 C>T Splice non-coding LB2241-RCCAKAP13 Exon 36 +2 C>T Splice non-coding BB65-RCC AKAP13 1617T>C A539A silent LB2241-RCCAKAP13 1617T>C A539A silent BB65-RCC AKAP13 3120C>T S1040S silent LB2241-RCCAKAP13 3120C>T S1040S silent BB65-RCC AKAP13 3669G>A R1223R silent BB65-RCC AKAP13 3732G>A G1244G silent LB2241-RCCAKAP13 3669G>A R1223R silent LB2241-RCCAKAP13 3732G>A G1244G silent BB65-RCC AKAP13 2625C>T P875P silent LB2241-RCCAKAP13 2625C>T P875P silent LB1047-RCCAKAP13 2625C>T P875P silent LB996-RCC AKAP13 4005C>T I1335I silent BB65-RCC AKAP13 4227G>A K1409K silent LB1047-RCCAKAP13 4227G>A K1409K silent LB1047-RCCAKAP13 1671T>C N557N silent PD2217a AKAP14 386C>G A129G missense PD1582a AKAP14 386C>G A129G missense PD2170a AKAP14 386C>G A129G missense PD2139a AKAP3 664G>A E222K missense PD2217a AKAP3 664G>A E222K missense PD2161a AKAP3 664G>A E222K missense PD2132a AKAP3 2525C>T P842L missense PD2209a AKAP3 360A>C S120S silent LB996-RCC AKAP3 609G>A S203S silent LB1047-RCCAKAP3 609G>A S203S silent LB2241-RCCAKAP3 609G>A S203S silent BB65-RCC AKAP3 1026C>T H342H silent LB1047-RCCAKAP3 1026C>T H342H silent LB2241-RCCAKAP3 1026C>T H342H silent HA7-RCC AKAP3 1499T>C I500T missense HA7-RCC AKAP3 1391C>G T464S missense LB996-RCC AKAP3 1391C>G T464S missense BB65-RCC AKAP3 1391C>G T464S missense BB65-RCC AKAP3 1499T>C I500T missense LB1047-RCCAKAP3 1391C>G T464S missense LB2241-RCCAKAP3 1391C>G T464S missense HA7-RCC AKAP3 2331T>C L777L silent LB996-RCC AKAP3 2331T>C L777L silent PD2178a AKAP4 2018C>G A673G missense PD2177a AKAP4 2204A>C N735T missense PD2190a AKAP4 2312A>C Q771P missense PD2178a AKAP4 2148C>T N716N silent PD2182a AKAP5 36C>G N12K missense PD2170a AKAP6 1538G>T R513L missense PD2218a AKAP6 1538G>T R513L missense PD1582a AKAP6 1538G>T R513L missense PD2174a AKAP6 1538G>T R513L missense PD2183a AKAP6 1538G>T R513L missense PD2198a AKAP6 1538G>T R513L missense PD2173a AKAP6 1538G>T R513L missense PD2132a AKAP6 1538G>T R513L missense PD1753a AKAP6 1538G>T R513L missense PD2177a AKAP6 1538G>T R513L missense PD2178a AKAP6 1538G>T R513L missense PD1759a AKAP6 2674G>A E892K missense PD2222a AKAP6 2674G>A E892K missense PD2180a AKAP6 5039T>A I1680N missense PD2150a AKAP6 3906G>A M1302I missense PD2177a AKAP6 3906G>A M1302I missense PD1753a AKAP6 1672A>G N558D missense PD2158a AKAP6 1672A>G N558D missense PD2201a AKAP6 4467C>T S1489S silent PD2170a AKAP6 6432G>A S2144S silent HA7-RCC AKAP6 2409A>G E803E silent LB2241-RCCAKAP6 2409A>G E803E silent HA7-RCC AKAP6 1155G>A T385T silent LB996-RCC AKAP6 1010C>T A337V missense BB65-RCC AKAP6 1155G>A T385T silent LB996-RCC AKAP6 1223A>G N408S missense BB65-RCC AKAP6 5895A>C P1965P silent LB1047-RCCAKAP6 5724A>C G1908G silent LB1047-RCCAKAP6 6003A>G A2001A silent LB2241-RCCAKAP6 5724A>C G1908G silent LB2241-RCCAKAP6 6003A>G A2001A silent LB1047-RCCAKAP6 6103A>G N2035D missense LB2241-RCCAKAP6 6103A>G N2035D missense PD2183a AKAP7 373G>T A125S missense PD2168a AKAP7 373G>T A125S missense HA7-RCC AKAP7 578G>A S193N missense LB996-RCC AKAP7 578G>A S193N missense LB996-RCC AKAP8 883C>T R295C missense PD2190a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2174a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2172a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2152a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1579a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1580a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2140a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1593a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2167a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1582a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2217a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2177a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2141a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2191a AKAP9 1606T>C C536R missense PD2184a AKAP9 4469A>G H1490R missense PD2176a AKAP9 10852A>G M3618V missense PD2222a AKAP9 247C>G Q83E missense PD2164a AKAP9 9709C>T R3237C missense PD2167a AKAP9 2385A>G E795E silent PD1759a AKAP9 10779G>A L3593L silent PD2162a AKAP9 10779G>A L3593L silent PD2168a AKAP9 2818T>C L940L silent PD2162a AKAP9 7311G>A Q2437Q silent PD2176a AKAP9 9879A>G S3293S silent HA7-RCC AKAP9 4042_4043insAAC L1348>QL in frame insertion LB1047-RCCAKAP9 4042_4043insAAC L1348>QL in frame insertion LB2241-RCCAKAP9 10266G>C Q3422H missense LB1047-RCCAKAP9 10471G>A E3491K missense HA7-RCC AKAP9 1572C>T L524L silent HA7-RCC AKAP9 9157C>T L3053L silent LB996-RCC AKAP9 9157C>T L3053L silent

Description:
649C>T. H217Y missense. PD2213a. ADAM7. Exon 5 +5 T>C. Splice non-coding. PD1582a. ADAM7. 1260T>C. P420P silent. PD2194a. ADAM7.
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Tumour Gene cDNA annotation Protein annotation Effect PD2185a ABCD4 1680C>T S560S silent PDF

215 Pages·2009·0English
by  Gillian Dalgliesh
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Preview Tumour Gene cDNA annotation Protein annotation Effect PD2185a ABCD4 1680C>T S560S silent

Tumour Gene cDNA annotation Protein annotation Effect PD2185a ABCD4 1680C>T S560S silent BB65-RCC ABCD4 910G>A A304T missense BB65-RCC ABCD4 184T>C L62L silent LB996-RCC ABCD4 981C>A L327L silent BB65-RCC ABCD4 981C>A L327L silent BB65-RCC ABCD4 1102G>A E368K missense LB996-RCC ABCD4 1102G>A E368K missense PD2183a ABHD2 1099A>C M367L missense PD2204a ABHD2 1260G>A V420V silent PD2133a ABHD2 1200C>T Y400Y silent PD2149a ABHD2 1200C>T Y400Y silent PD2218a ABHD2 1200C>T Y400Y silent PD2199a ABHD2 1200C>T Y400Y silent BB65-RCC ACBD3 561A>C E187D missense LB996-RCC ACBD3 561A>C E187D missense HA7-RCC ACBD3 561A>C E187D missense PD2191a ACD 338G>A R113Q missense LB996-RCC ACD 1544T>C V515A missense LB1047-RCCACD 1544T>C V515A missense LB2241-RCCACD 1544T>C V515A missense PD2134a ACLY 1123A>G I375V missense BB65-RCC ACLY 525A>C E175D missense PD2185a ACO1 1557A>C E519D missense PD2204a ACO1 1456G>A G486R missense PD2178a ACO1 1456G>A G486R missense PD2180a ACO1 2180T>C I727T missense PD2148a ACO1 367G>A V123I missense BB65-RCC ACO1 1929C>A I643I silent BB65-RCC ACO1 85G>T D29Y missense LB996-RCC ACO1 1263A>G E421E silent LB1047-RCCACO1 1263A>G E421E silent LB2241-RCCACO1 1263A>G E421E silent HA7-RCC ACO2 670C>T L224L silent LB996-RCC ACO2 670C>T L224L silent BB65-RCC ACO2 670C>T L224L silent LB996-RCC ACSL3 726G>A P242P silent PD2201a ACSL6 1273G>A E425K missense PD2146a ACSS2 542C>T A181V missense LB996-RCC ACSS2 276C>T F92F silent HA7-RCC ACSS2 276C>T F92F silent BB65-RCC ACSS2 276C>T F92F silent PD2129a ACYP1 89A>C E30A missense PD2153a ACYP1 63G>A V21V silent PD1582a ADA 180C>T D60D silent HA7-RCC ADAM11 2220T>C I740I silent LB996-RCC ADAM11 2220T>C I740I silent BB65-RCC ADAM11 2220T>C I740I silent LB1047-RCCADAM11 2220T>C I740I silent LB2241-RCCADAM11 2220T>C I740I silent PD2201a ADAM12 212G>A R71Q missense PD2141a ADAM12 212G>A R71Q missense HA7-RCC ADAM12 411G>A T137T silent LB2241-RCCADAM12 1818C>T P606P silent HA7-RCC ADAM12 2475T>C A825A silent BB65-RCC ADAM12 2475T>C A825A silent BB65-RCC ADAM12 142G>C G48R missense LB1047-RCCADAM12 142G>C G48R missense LB2241-RCCADAM12 142G>T G48W missense PD2164a ADAM15 1685G>A R562H missense PD1759a ADAM15 1437G>A Q479Q silent HA7-RCC ADAM15 1647A>C T549T silent LB2241-RCCADAM15 1647A>C T549T silent HA7-RCC ADAM15 501G>T S167S silent LB996-RCC ADAM15 501G>T S167S silent LB2241-RCCADAM15 501G>T S167S silent LB2241-RCCADAM15 572A>C K191T missense LB996-RCC ADAM15 2277G>A K759K silent PD2133a ADAM17 148A>G I50V missense PD2178a ADAM17 604A>G R202G missense PD2134a ADAM17 2017G>A V673I missense PD2210a ADAM17 2017G>A V673I missense BB65-RCC ADAM17 1824T>C S608S silent LB1047-RCCADAM17 1824T>C S608S silent LB2241-RCCADAM17 1824T>C S608S silent PD2178a ADAM18 425A>T Q142L missense PD1754a ADAM18 425A>T Q142L missense PD2162a ADAM18 1491T>C T497T silent PD2152a ADAM18 1491T>C T497T silent LB996-RCC ADAM18 Exon 3 -3 T>C Splice non-coding PD2125a ADAM19 2503C>G P835A missense PD1580a ADAM19 2545G>A V849I missense LB996-RCC ADAM19 190C>T L64F missense LB996-RCC ADAM19 2221T>G S741A missense HA7-RCC ADAM19 853A>G S285G missense LB1047-RCCADAM19 853A>G S285G missense PD2209a ADAM20 2299C>T R767C missense LB996-RCC ADAM22 242C>G P81R missense LB1047-RCCADAM22 242C>G P81R missense PD1590a ADAM23 319A>G M107V missense PD2156a ADAM23 2338C>G P780A missense LB996-RCC ADAM23 2085C>T A695A silent PD2209a ADAM28 1498G>A G500R missense PD2203a ADAM28 1498G>A G500R missense PD2178a ADAM28 1478A>G N493S missense BB65-RCC ADAM28 Exon 12 +4 T>C Splice non-coding PD1753a ADAM29 193A>T I65F missense PD2222a ADAM29 14T>C L5P missense PD2164a ADAM29 195C>T I65I silent LB2241-RCCADAM29 985G>A A329T missense PD1582a ADAM30 1223A>G E408G missense PD2129a ADAM30 133A>G I45V missense PD2147a ADAM30 481C>G L161V missense PD2218a ADAM32 2331C>A D777E missense PD2182a ADAM32 2331C>A D777E missense HA7-RCC ADAM33 2151G>C G717G silent BB65-RCC ADAM33 2151G>C G717G silent HA7-RCC ADAM33 532A>G T178A missense PD2127a ADAM7 649C>T H217Y missense PD2213a ADAM7 Exon 5 +5 T>C Splice non-coding PD1582a ADAM7 1260T>C P420P silent PD2194a ADAM7 1260T>C P420P silent PD2184a ADAM7 1260T>C P420P silent PD2147a ADAM7 1260T>C P420P silent PD2160a ADAM7 108T>C P36P silent BB65-RCC ADAM7 1815G>A A605A silent LB1047-RCCADAM7 2187G>A L729L silent PD1759a ADAM9 226G>A E76K missense PD2190a ADAM9 226G>A E76K missense PD2149a ADAMDEC1 1261C>T P421S missense PD1769a ADAMDEC1 1261C>T P421S missense PD2178a ADAMDEC1 1315C>T P439S missense PD2183a ADAMDEC1 1315C>T P439S missense PD2178a ADAMDEC1 765A>T I255I silent PD2178a ADAMDEC1 888T>C S296S silent PD2178a ADAMTS1 1891G>A E631K missense PD2142a ADAMTS1 2108G>A R703H missense PD2221a ADAMTS1 2108G>A R703H missense PD1580a ADAMTS1 2108G>A R703H missense PD2208a ADAMTS1 2108G>A R703H missense PD2189a ADAMTS1 2108G>A R703H missense PD2166a ADAMTS1 2108G>A R703H missense PD2150a ADAMTS1 2108G>A R703H missense PD2125a ADAMTS1 412G>T A138S missense PD2139a ADAMTS1 412G>T A138S missense PD2218a ADAMTS1 2345A>G D782G missense PD2176a ADAMTS1 625G>A G209R missense PD2164a ADAMTS1 676G>A G226R missense PD2146a ADAMTS1 2434C>T R812C missense LB996-RCC ADAMTS1 1500C>T P500P silent BB65-RCC ADAMTS1 1500C>T P500P silent HA7-RCC ADAMTS1 600C>G V200V silent HA7-RCC ADAMTS1 582C>A V194V silent HA7-RCC ADAMTS1 679G>C A227P missense LB996-RCC ADAMTS1 582C>A V194V silent LB996-RCC ADAMTS1 679G>C A227P missense BB65-RCC ADAMTS1 582C>A V194V silent BB65-RCC ADAMTS1 679G>C A227P missense LB1047-RCCADAMTS1 582C>A V194V silent LB1047-RCCADAMTS1 679G>C A227P missense LB2241-RCCADAMTS1 582C>A V194V silent LB2241-RCCADAMTS1 679G>C A227P missense PD2180a ADAMTS10 2584G>T A862S missense BB65-RCC ADAMTS10 217G>A E73K missense LB1047-RCCADAMTS10 401C>G T134S missense LB996-RCC ADAMTS10 2283T>C P761P silent LB2241-RCCADAMTS10 2283T>C P761P silent LB1047-RCCADAMTS10 2283T>C P761P silent PD2133a ADAMTS12 890G>A R297Q missense PD2153a ADAMTS12 3355C>T L1119F missense PD2136a ADAMTS12 25C>T L9F missense PD1582a ADAMTS12 25C>T L9F missense PD2167a ADAMTS12 25C>T L9F missense PD2185a ADAMTS12 25C>T L9F missense PD2155a ADAMTS12 25C>T L9F missense PD2182a ADAMTS12 3602C>T T1201I missense PD2130a ADAMTS12 461C>T T154M missense PD2142a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2160a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2146a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2161a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2177a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2193a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2217a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2162a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2218a ADAMTS12 Exon 8 -5 G>T Splice non-coding PD2134a ADAMTS12 1404C>T P468P silent LB996-RCC ADAMTS12 1496T>A L499Q missense BB65-RCC ADAMTS12 2049T>C D683D silent LB2241-RCCADAMTS12 2049T>C D683D silent LB2241-RCCADAMTS12 4484C>T T1495I missense LB2241-RCCADAMTS12 4240C>A P1414T missense PD2199a ADAMTS13 3287G>A R1096H missense PD2204a ADAMTS13 500C>T T167M missense HA7-RCC ADAMTS13 1716A>G T572T silent LB1047-RCCADAMTS13 1716A>G T572T silent LB2241-RCCADAMTS13 4221C>A T1407T silent HA7-RCC ADAMTS13 2280C>T G760G silent BB65-RCC ADAMTS13 2280C>T G760G silent LB1047-RCCADAMTS13 2280C>T G760G silent LB996-RCC ADAMTS13 2699C>T A900V missense PD2213a ADAMTS14 988C>T R330C missense PD2207a ADAMTS14 516C>T D172D silent HA7-RCC ADAMTS14 1974G>A T658T silent LB1047-RCCADAMTS14 2818C>A L940M missense LB1047-RCCADAMTS14 3639A>G R1213R silent LB2241-RCCADAMTS14 3639A>G R1213R silent LB996-RCC ADAMTS14 1778T>C L593P missense BB65-RCC ADAMTS14 1778T>C L593P missense HA7-RCC ADAMTS14 1778T>C L593P missense LB996-RCC ADAMTS14 1878C>G S626S silent BB65-RCC ADAMTS14 1878C>G S626S silent LB2241-RCCADAMTS14 1878C>G S626S silent HA7-RCC ADAMTS14 1878C>G S626S silent PD2215a ADAMTS15 238T>G S80A missense PD2134a ADAMTS15 1324T>C Y442H missense PD2142a ADAMTS15 2280C>T S760S silent PD2130a ADAMTS15 2280C>T S760S silent BB65-RCC ADAMTS15 1698T>C N566N silent LB2241-RCCADAMTS15 1698T>C N566N silent PD2216a ADAMTS16 3206G>A R1069Q missense BB65-RCC ADAMTS16 1146C>T H382H silent HA7-RCC ADAMTS16 1350C>T C450C silent LB996-RCC ADAMTS16 1350C>T C450C silent BB65-RCC ADAMTS16 1350C>T C450C silent LB1047-RCCADAMTS16 1350C>T C450C silent LB2241-RCCADAMTS16 1350C>T C450C silent HA7-RCC ADAMTS16 310T>C S104P missense HA7-RCC ADAMTS16 268C>G P90A missense LB2241-RCCADAMTS16 2200G>A V734I missense BB65-RCC ADAMTS16 Exon 9 -3 ins TC Splice non-coding PD2139a ADAMTS17 1288T>C S430P missense PD2127a ADAMTS17 2799C>T C933C silent PD2190a ADAMTS17 2439T>C S813S silent LB2241-RCCADAMTS17 647C>T S216L missense LB1047-RCCADAMTS17 2472C>T I824I silent LB2241-RCCADAMTS17 756C>T A252A silent BB65-RCC ADAMTS17 1962C>T D654D silent LB2241-RCCADAMTS17 1962C>T D654D silent LB2241-RCCADAMTS17 1053G>A K351K silent LB996-RCC ADAMTS17 Exon 18 +6 A>G Splice non-coding PD2183a ADAMTS18 3628G>A G1210R missense PD2150a ADAMTS18 637C>T R213W missense PD2130a ADAMTS18 3565G>A V1189I missense PD2142a ADAMTS18 3565G>A V1189I missense PD1593a ADAMTS18 3608T>C V1203A missense LB996-RCC ADAMTS18 1876T>A L626I missense LB1047-RCCADAMTS18 1876T>A L626I missense LB2241-RCCADAMTS18 1876T>A L626I missense HA7-RCC ADAMTS18 3476G>C S1159T missense LB996-RCC ADAMTS18 3476G>C S1159T missense HA7-RCC ADAMTS18 3144C>T C1048C silent HA7-RCC ADAMTS18 2931G>A V977V silent HA7-RCC ADAMTS18 2836G>T A946S missense LB996-RCC ADAMTS18 571T>C Y191H missense LB1047-RCCADAMTS18 571T>C Y191H missense LB2241-RCCADAMTS18 571T>C Y191H missense PD2176a ADAMTS19 2694T>C T898T silent PD2199a ADAMTS2 1308G>A A436A silent PD2178a ADAMTS2 1281C>T D427D silent PD2197a ADAMTS2 1488C>T F496F silent HA7-RCC ADAMTS2 2028C>T D676D silent LB1047-RCCADAMTS2 2028C>T D676D silent LB2241-RCCADAMTS2 321T>C S107S silent HA7-RCC ADAMTS2 2532C>T D844D silent BB65-RCC ADAMTS2 2532C>T D844D silent LB1047-RCCADAMTS2 2532C>T D844D silent PD2204a ADAMTS20 1658G>A R553H missense PD2130a ADAMTS20 5032C>T Q1678* nonsense PD2160a ADAMTS20 3093C>T S1031S silent LB1047-RCCADAMTS20 5352A>G R1784R silent LB1047-RCCADAMTS20 5400T>G T1800T silent LB2241-RCCADAMTS20 5352A>G R1784R silent LB2241-RCCADAMTS20 5400T>G T1800T silent BB65-RCC ADAMTS20 5352A>G R1784R silent BB65-RCC ADAMTS20 5400T>G T1800T silent HA7-RCC ADAMTS20 5352A>G R1784R silent HA7-RCC ADAMTS20 5400T>G T1800T silent PD2221a ADAMTS3 1537C>A P513T missense PD2219a ADAMTS3 1537C>A P513T missense PD2164a ADAMTS3 1537C>A P513T missense PD2171a ADAMTS3 1347T>C Y449Y silent HA7-RCC ADAMTS3 413G>A R138K missense LB996-RCC ADAMTS3 413G>A R138K missense HA7-RCC ADAMTS3 Exon 2 -7 del(T) Splice non-coding LB996-RCC ADAMTS3 Exon 2 -3 del(C) Splice non-coding PD2197a ADAMTS4 298T>C S100P missense PD1766a ADAMTS4 298T>C S100P missense PD2150a ADAMTS4 2091C>T Y697Y silent LB1047-RCCADAMTS4 437G>A G146E missense LB1047-RCCADAMTS4 229G>A A77T missense LB2241-RCCADAMTS4 229G>A A77T missense BB65-RCC ADAMTS4 1877A>G Q626R missense LB2241-RCCADAMTS4 1877A>G Q626R missense LB996-RCC ADAMTS4 229G>A A77T missense LB996-RCC ADAMTS5 1841G>A R614H missense LB1047-RCCADAMTS5 1841G>A R614H missense BB65-RCC ADAMTS5 2075T>C L692P missense LB2241-RCCADAMTS5 2075T>C L692P missense HA7-RCC ADAMTS5 413G>C G138A missense PD2136a ADAMTS7 226C>T R76* nonsense HA7-RCC ADAMTS7 387C>T H129H silent LB996-RCC ADAMTS7 240C>G A80A silent LB996-RCC ADAMTS7 252A>G L84L silent LB996-RCC ADAMTS7 344G>C G115A missense LB996-RCC ADAMTS7 387C>T H129H silent BB65-RCC ADAMTS7 240C>G A80A silent LB1047-RCCADAMTS7 387C>T H129H silent LB2241-RCCADAMTS7 387C>T H129H silent HA7-RCC ADAMTS8 2374A>G T792A missense PD1593a ADAMTS9 5798G>A R1933Q missense PD2164a ADAMTS9 5798G>A R1933Q missense PD2204a ADAMTS9 5022C>G D1674E missense PD2171a ADAMTS9 5022C>G D1674E missense PD2168a ADAMTS9 5022C>G D1674E missense PD2180a ADAMTS9 5022C>G D1674E missense PD2221a ADAMTS9 5742A>G K1914K silent LB1047-RCCADAMTS9 5219A>G K1740R missense PD2148a ADAMTSL1 1128C>G P376P silent PD2178a ADAMTSL1 105A>G L35L silent HA7-RCC ADAMTSL1 153T>A G51G silent LB2241-RCCADAMTSL1 153T>A G51G silent HA7-RCC ADAMTSL1 1353A>G T451T silent PD2207a ADAMTSL3 14C>T T5M missense PD2136a ADAMTSL3 3486G>A S1162S silent LB1047-RCCADAMTSL3 2379C>T G793G silent LB996-RCC ADAMTSL3 2910T>C H970H silent BB65-RCC ADAMTSL3 2910T>C H970H silent HA7-RCC ADAMTSL3 1746G>A P582P silent HA7-RCC ADAMTSL3 1761T>C R587R silent LB1047-RCCADAMTSL3 1761T>C R587R silent LB1047-RCCADAMTSL3 1981G>T V661L missense HA7-RCC ADAMTSL3 437A>G H146R missense LB996-RCC ADAMTSL3 437A>G H146R missense BB65-RCC ADAMTSL3 437A>G H146R missense LB1047-RCCADAMTSL3 437A>G H146R missense LB1047-RCCADAMTSL3 4979C>T T1660I missense PD2166a ADH4 208G>A E70K missense PD2162a ADH4 97A>G K33E missense LB1047-RCCADH4 1051C>T L351L silent HA7-RCC ADH4 1120G>A V374I missense LB996-RCC ADH4 1120G>A V374I missense LB2241-RCCADH4 1120G>A V374I missense PD2178a ADH6 340A>G I114V missense PD1593a ADH6 680A>C K227T missense PD1590a ADH6 132C>T T44T silent PD2140a ADH7 107T>G I36S missense PD2222a ADH7 846G>T G282G silent HA7-RCC ADH7 690G>A R230R silent LB996-RCC ADH7 690G>A R230R silent HA7-RCC ADH7 275G>C G92A missense PD2189a ADHFE1 58C>G L20V missense BB65-RCC ADHFE1 972G>C T324T silent LB2241-RCCADORA2B 457_459delAAC N153_C154>C in frame deletion LB1047-RCCADRA2B 1173A>C G391G silent LB996-RCC ADRB1 145A>G S49G missense PD2191a ADSL 1308T>G I436M missense PD2183a AFF1 2499C>G I833M missense PD2178a AFF1 457C>A P153T missense PD2183a AFF1 99A>G A33A silent PD2133a AFF3 1429C>A H477N missense PD2183a AFF3 912C>T A304A silent PD2207a AFF3 912C>T A304A silent PD2171a AFF3 912C>T A304A silent HA7-RCC AFF3 2209G>A A737T missense BB65-RCC AFF3 1263C>T A421A silent LB1047-RCCAFF3 1263C>T A421A silent HA7-RCC AFF3 1263C>T A421A silent LB2241-RCCAFF3 1263C>T A421A silent LB996-RCC AFF3 2124C>G S708S silent BB65-RCC AFF4 673C>G R225G missense HA7-RCC AFF4 2007C>T P669P silent PD2207a AGER 229C>T R77C missense PD1593a AGER 229C>T R77C missense PD2161a AGER 229C>T R77C missense PD2160a AGER 229C>T R77C missense LB2241-RCCAGER 267C>G V89V silent LB2241-RCCAGER 6T>A A2A silent HA7-RCC AGER 6T>A A2A silent LB996-RCC AGER 6T>A A2A silent BB65-RCC AGER 6T>A A2A silent LB1047-RCCAGER 6T>A A2A silent LB2241-RCCAGT 620C>T T207M missense LB2241-RCCAGT 803T>C M268T missense HA7-RCC AGT 1116A>G L372L silent LB1047-RCCAGT 1116A>G L372L silent LB2241-RCCAGT 1116A>G L372L silent PD2138a AHI1 2488C>T R830W missense PD2134a AHI1 2488C>T R830W missense PD2187a AHI1 2488C>T R830W missense PD2218a AHI1 2488C>T R830W missense PD2146a AHI1 2488C>T R830W missense PD2183a AHI1 3164C>T T1055M missense PD2185a AHI1 3222C>A R1074R silent LB996-RCC AHI1 1643G>A R548H missense PD2217a AHR 1468A>G M490V missense PD2217a AHR 1708G>A V570I missense HA7-RCC AHR 132T>C N44N silent PD2190a AHRR 1780C>G P594A missense PD2199a AHRR 885C>T S295S silent PD2131a AHRR 885C>T S295S silent PD1580a AHRR 885C>T S295S silent PD1766a AHRR 885C>T S295S silent HA7-RCC AHRR 1921G>C D641H missense LB996-RCC AHRR 1921G>C D641H missense LB1047-RCCAHRR 1921G>C D641H missense PD2204a AHSA1 315C>T I105I silent LB996-RCC AHSA1 945G>A T315T silent BB65-RCC AHSA1 945G>A T315T silent LB1047-RCCAHSA1 945G>A T315T silent LB2241-RCCAHSA1 945G>A T315T silent BB65-RCC AHSA1 133C>T L45L silent LB1047-RCCAHSA1 133C>T L45L silent LB2241-RCCAHSA1 133C>T L45L silent LB996-RCC AHSA1 294A>G Q98Q silent BB65-RCC AHSA1 294A>G Q98Q silent LB1047-RCCAHSA1 294A>G Q98Q silent LB2241-RCCAHSA1 294A>G Q98Q silent BB65-RCC AHSA1 Exon 6 +7 A>C Splice non-coding LB1047-RCCAHSA1 Exon 6 +7 A>C Splice non-coding LB2241-RCCAHSA1 Exon 6 +7 A>C Splice non-coding PD2215a AHSA2 206_208delAGA K69_I70>I in frame deletion PD2191a AHSA2 206_208delAGA K69_I70>I in frame deletion PD2183a AICDA 299G>C G100A missense LB996-RCC AICDA 465C>T H155H silent LB1047-RCCAICDA 465C>T H155H silent HA7-RCC AICDA 465C>T H155H silent LB2241-RCCAICDA 465C>T H155H silent BB65-RCC AIFM1 1463A>G Y488C missense BB65-RCC AIFM1 1475A>G Y492C missense LB2241-RCCAIFM1 273T>C D91D silent HA7-RCC AIFM1 261T>C D87D silent HA7-RCC AIFM1 273T>C D91D silent LB2241-RCCAIFM1 261T>C D87D silent LB1047-RCCAIFM1 261T>C D87D silent LB1047-RCCAIFM1 273T>C D91D silent PD2178a AK1 484G>A A162T missense PD2178a AK1 102C>T Y34Y silent PD1593a AK2 171C>A G57G silent PD2156a AK2 504C>T T168T silent HA7-RCC AK3L1 465G>A P155P silent LB1047-RCCAK3L1 465G>A P155P silent LB2241-RCCAK3L1 465G>A P155P silent PD2216a AK5 1684_1685insATT F562>YF in frame insertion PD2198a AK5 1684_1685insATT F562>YF in frame insertion PD1764a AK5 1684_1685insATT F562>YF in frame insertion PD1582a AK5 1684_1685insATT F562>YF in frame insertion PD2127a AK5 1684_1685insATT F562>YF in frame insertion PD2183a AK5 1684_1685insATT F562>YF in frame insertion PD2152a AK5 1684_1685insATT F562>YF in frame insertion PD1593a AK5 1684_1685insATT F562>YF in frame insertion PD2129a AK5 1684_1685insATT F562>YF in frame insertion PD2160a AK5 1684_1685insATT F562>YF in frame insertion PD2192a AK5 1684_1685insATT F562>YF in frame insertion PD2176a AK5 1684_1685insATT F562>YF in frame insertion PD2197a AK5 1684_1685insATT F562>YF in frame insertion PD2188a AK5 1684_1685insATT F562>YF in frame insertion PD2172a AK5 1684_1685insATT F562>YF in frame insertion PD2187a AK5 1684_1685insATT F562>YF in frame insertion PD2171a AK5 1684_1685insATT F562>YF in frame insertion PD2177a AK5 1684_1685insATT F562>YF in frame insertion PD1769a AK5 1684_1685insATT F562>YF in frame insertion PD2173a AK5 1684_1685insATT F562>YF in frame insertion PD2133a AK5 1315A>G I439V missense PD1582a AK5 465A>G R155R silent HA7-RCC AK5 1684_1685insATT F562>YF in frame insertion BB65-RCC AK5 348A>G A116A silent PD2198a AK7 1561G>A V521I missense PD2131a AK7 1632G>A A544A silent LB996-RCC AK7 305G>A R102Q missense LB996-RCC AK7 1167C>G N389K missense HA7-RCC AK7 1167C>G N389K missense LB1047-RCCAK7 1167C>G N389K missense BB65-RCC AK7 1167C>G N389K missense LB2241-RCCAK7 1167C>G N389K missense PD2170a AKAP1 1644G>A L548L silent PD2202a AKAP1 1425G>A P475P silent HA7-RCC AKAP1 988A>G S330G missense LB2241-RCCAKAP1 988A>G S330G missense HA7-RCC AKAP1 967G>A G323S missense HA7-RCC AKAP1 891T>C D297D silent LB2241-RCCAKAP1 967G>A G323S missense LB2241-RCCAKAP1 891T>C D297D silent HA7-RCC AKAP1 53C>T A18V missense LB2241-RCCAKAP1 53C>T A18V missense BB65-RCC AKAP1 378T>C D126D silent LB1047-RCCAKAP1 378T>C D126D silent LB2241-RCCAKAP1 378T>C D126D silent LB1047-RCCAKAP1 2172C>T F724F silent LB1047-RCCAKAP1 Exon 4 +7 G>C Splice non-coding BB65-RCC AKAP10 746G>A R249H missense LB2241-RCCAKAP10 746G>A R249H missense BB65-RCC AKAP10 1936A>G I646V missense LB2241-RCCAKAP10 1936A>G I646V missense PD2194a AKAP11 2705A>G E902G missense PD2178a AKAP11 4573G>A G1525S missense PD1768a AKAP11 3209A>G H1070R missense PD2171a AKAP11 1713_1714AG>CC K571_G572>NR missense PD1579a AKAP11 1713_1714AG>CC K571_G572>NR missense PD2178a AKAP11 4230A>C L1410F missense PD1754a AKAP11 4876C>T R1626C missense PD2198a AKAP11 5622G>A V1874V silent LB1047-RCCAKAP11 3951G>A P1317P silent LB996-RCC AKAP11 3408A>C T1136T silent PD2215a AKAP12 5067G>T E1689D missense PD1593a AKAP12 5067G>T E1689D missense PD1759a AKAP12 5067G>T E1689D missense PD2136a AKAP12 5067G>T E1689D missense PD2185a AKAP12 5067G>T E1689D missense PD2203a AKAP12 5067G>T E1689D missense PD2148a AKAP12 5067G>T E1689D missense PD2173a AKAP12 314C>T T105I missense PD2136a AKAP12 3286G>A V1096I missense PD2161a AKAP12 3286G>A V1096I missense PD2185a AKAP12 3286G>A V1096I missense PD2183a AKAP12 3286G>A V1096I missense LB1047-RCCAKAP12 1164G>A S388S silent LB996-RCC AKAP12 1371T>C A457A silent BB65-RCC AKAP12 1371T>C A457A silent LB1047-RCCAKAP12 1371T>C A457A silent LB2241-RCCAKAP12 1371T>C A457A silent LB996-RCC AKAP12 2659A>T S887C missense LB1047-RCCAKAP12 2759A>G E920G missense LB2241-RCCAKAP12 2659A>T S887C missense LB1047-RCCAKAP12 4063G>A E1355K missense LB1047-RCCAKAP12 4744G>A V1582M missense BB65-RCC AKAP12 646A>C K216Q missense LB1047-RCCAKAP12 646A>C K216Q missense LB2241-RCCAKAP12 646A>C K216Q missense LB996-RCC AKAP12 315A>G T105T silent LB1047-RCCAKAP12 315A>G T105T silent LB2241-RCCAKAP12 315A>G T105T silent HA7-RCC AKAP12 4596_4597insGGA D1532_L1533insG in frame insertion PD2140a AKAP13 5548C>T P1850S missense PD2125a AKAP13 5548C>T P1850S missense PD2130a AKAP13 6090G>A A2030A silent PD2149a AKAP13 7611C>T S2537S silent PD2218a AKAP13 1917A>G S639S silent PD2136a AKAP13 1917A>G S639S silent PD2126a AKAP13 1932C>T S644S silent PD2167a AKAP13 1932C>T S644S silent PD2187a AKAP13 6252G>A V2084V silent LB996-RCC AKAP13 7686C>T L2562L silent LB1047-RCCAKAP13 7686C>T L2562L silent LB1047-RCCAKAP13 2534T>G V845G missense BB65-RCC AKAP13 1720C>T R574C missense LB2241-RCCAKAP13 1720C>T R574C missense LB2241-RCCAKAP13 1871G>T G624V missense LB2241-RCCAKAP13 3647T>C M1216T missense BB65-RCC AKAP13 3647T>C M1216T missense BB65-RCC AKAP13 1355T>C M452T missense BB65-RCC AKAP13 1480T>C W494R missense LB2241-RCCAKAP13 1355T>C M452T missense LB2241-RCCAKAP13 1480T>C W494R missense LB996-RCC AKAP13 1871G>T G624V missense BB65-RCC AKAP13 2065G>A E689K missense BB65-RCC AKAP13 2534T>C V845A missense BB65-RCC AKAP13 2689G>A V897M missense LB2241-RCCAKAP13 2534T>C V845A missense LB2241-RCCAKAP13 2689G>A V897M missense LB1047-RCCAKAP13 2689G>A V897M missense LB996-RCC AKAP13 3413A>G D1138G missense LB996-RCC AKAP13 7381G>A G2461S missense BB65-RCC AKAP13 8135C>T P2712L missense LB1047-RCCAKAP13 8135C>T P2712L missense BB65-RCC AKAP13 Exon 36 +2 C>T Splice non-coding LB1047-RCCAKAP13 Exon 36 +2 C>T Splice non-coding LB2241-RCCAKAP13 Exon 36 +2 C>T Splice non-coding BB65-RCC AKAP13 1617T>C A539A silent LB2241-RCCAKAP13 1617T>C A539A silent BB65-RCC AKAP13 3120C>T S1040S silent LB2241-RCCAKAP13 3120C>T S1040S silent BB65-RCC AKAP13 3669G>A R1223R silent BB65-RCC AKAP13 3732G>A G1244G silent LB2241-RCCAKAP13 3669G>A R1223R silent LB2241-RCCAKAP13 3732G>A G1244G silent BB65-RCC AKAP13 2625C>T P875P silent LB2241-RCCAKAP13 2625C>T P875P silent LB1047-RCCAKAP13 2625C>T P875P silent LB996-RCC AKAP13 4005C>T I1335I silent BB65-RCC AKAP13 4227G>A K1409K silent LB1047-RCCAKAP13 4227G>A K1409K silent LB1047-RCCAKAP13 1671T>C N557N silent PD2217a AKAP14 386C>G A129G missense PD1582a AKAP14 386C>G A129G missense PD2170a AKAP14 386C>G A129G missense PD2139a AKAP3 664G>A E222K missense PD2217a AKAP3 664G>A E222K missense PD2161a AKAP3 664G>A E222K missense PD2132a AKAP3 2525C>T P842L missense PD2209a AKAP3 360A>C S120S silent LB996-RCC AKAP3 609G>A S203S silent LB1047-RCCAKAP3 609G>A S203S silent LB2241-RCCAKAP3 609G>A S203S silent BB65-RCC AKAP3 1026C>T H342H silent LB1047-RCCAKAP3 1026C>T H342H silent LB2241-RCCAKAP3 1026C>T H342H silent HA7-RCC AKAP3 1499T>C I500T missense HA7-RCC AKAP3 1391C>G T464S missense LB996-RCC AKAP3 1391C>G T464S missense BB65-RCC AKAP3 1391C>G T464S missense BB65-RCC AKAP3 1499T>C I500T missense LB1047-RCCAKAP3 1391C>G T464S missense LB2241-RCCAKAP3 1391C>G T464S missense HA7-RCC AKAP3 2331T>C L777L silent LB996-RCC AKAP3 2331T>C L777L silent PD2178a AKAP4 2018C>G A673G missense PD2177a AKAP4 2204A>C N735T missense PD2190a AKAP4 2312A>C Q771P missense PD2178a AKAP4 2148C>T N716N silent PD2182a AKAP5 36C>G N12K missense PD2170a AKAP6 1538G>T R513L missense PD2218a AKAP6 1538G>T R513L missense PD1582a AKAP6 1538G>T R513L missense PD2174a AKAP6 1538G>T R513L missense PD2183a AKAP6 1538G>T R513L missense PD2198a AKAP6 1538G>T R513L missense PD2173a AKAP6 1538G>T R513L missense PD2132a AKAP6 1538G>T R513L missense PD1753a AKAP6 1538G>T R513L missense PD2177a AKAP6 1538G>T R513L missense PD2178a AKAP6 1538G>T R513L missense PD1759a AKAP6 2674G>A E892K missense PD2222a AKAP6 2674G>A E892K missense PD2180a AKAP6 5039T>A I1680N missense PD2150a AKAP6 3906G>A M1302I missense PD2177a AKAP6 3906G>A M1302I missense PD1753a AKAP6 1672A>G N558D missense PD2158a AKAP6 1672A>G N558D missense PD2201a AKAP6 4467C>T S1489S silent PD2170a AKAP6 6432G>A S2144S silent HA7-RCC AKAP6 2409A>G E803E silent LB2241-RCCAKAP6 2409A>G E803E silent HA7-RCC AKAP6 1155G>A T385T silent LB996-RCC AKAP6 1010C>T A337V missense BB65-RCC AKAP6 1155G>A T385T silent LB996-RCC AKAP6 1223A>G N408S missense BB65-RCC AKAP6 5895A>C P1965P silent LB1047-RCCAKAP6 5724A>C G1908G silent LB1047-RCCAKAP6 6003A>G A2001A silent LB2241-RCCAKAP6 5724A>C G1908G silent LB2241-RCCAKAP6 6003A>G A2001A silent LB1047-RCCAKAP6 6103A>G N2035D missense LB2241-RCCAKAP6 6103A>G N2035D missense PD2183a AKAP7 373G>T A125S missense PD2168a AKAP7 373G>T A125S missense HA7-RCC AKAP7 578G>A S193N missense LB996-RCC AKAP7 578G>A S193N missense LB996-RCC AKAP8 883C>T R295C missense PD2190a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2174a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2172a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2152a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1579a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1580a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2140a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1593a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2167a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD1582a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2217a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2177a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2141a AKAP9 4042_4043insAAC L1348>QL in frame insertion PD2191a AKAP9 1606T>C C536R missense PD2184a AKAP9 4469A>G H1490R missense PD2176a AKAP9 10852A>G M3618V missense PD2222a AKAP9 247C>G Q83E missense PD2164a AKAP9 9709C>T R3237C missense PD2167a AKAP9 2385A>G E795E silent PD1759a AKAP9 10779G>A L3593L silent PD2162a AKAP9 10779G>A L3593L silent PD2168a AKAP9 2818T>C L940L silent PD2162a AKAP9 7311G>A Q2437Q silent PD2176a AKAP9 9879A>G S3293S silent HA7-RCC AKAP9 4042_4043insAAC L1348>QL in frame insertion LB1047-RCCAKAP9 4042_4043insAAC L1348>QL in frame insertion LB2241-RCCAKAP9 10266G>C Q3422H missense LB1047-RCCAKAP9 10471G>A E3491K missense HA7-RCC AKAP9 1572C>T L524L silent HA7-RCC AKAP9 9157C>T L3053L silent LB996-RCC AKAP9 9157C>T L3053L silent

Description:
649C>T. H217Y missense. PD2213a. ADAM7. Exon 5 +5 T>C. Splice non-coding. PD1582a. ADAM7. 1260T>C. P420P silent. PD2194a. ADAM7.
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