ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance for Usher syndrome type 1F

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Gene type:
ClinVar version:
Total variants: 449
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys) rs145499180 0.00048
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser) rs139547641 0.00034
NM_001384140.1(PCDH15):c.1762A>G (p.Asn588Asp) rs143897176 0.00031
NM_001384140.1(PCDH15):c.4203-8C>G rs200840022 0.00031
NM_001384140.1(PCDH15):c.3502-6G>A rs749897896 0.00028
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg) rs140716525 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385 0.00016
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=) rs145141405 0.00014
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala) rs61731381 0.00014
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly) rs61735482 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln) rs372085398 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00011
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=) rs140893140 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala) rs780503140 0.00009
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu) rs373482210 0.00009
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys) rs149605588 0.00009
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys) rs567843031 0.00009
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile) rs187727835 0.00008
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val) rs369029215 0.00008
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His) rs143538460 0.00008
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp) rs573831072 0.00007
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00007
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00007
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln) rs753457449 0.00006
NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu) rs930665715 0.00006
NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile) rs374715306 0.00006
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=) rs746404657 0.00006
NM_001384140.1(PCDH15):c.3501+6C>T rs370178425 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=) rs181232514 0.00006
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val) rs528484622 0.00006
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys) rs775361471 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=) rs200170358 0.00005
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile) rs200784596 0.00005
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys) rs775952226 0.00005
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys) rs781603185 0.00005
NM_001384140.1(PCDH15):c.4671+1523G>T rs755005336 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe) rs747584616 0.00005
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe) rs140047846 0.00005
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.19C>A (p.Leu7Ile) rs762092314 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg) rs1052481975 0.00004
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826 0.00004
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser) rs150891423 0.00004
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser) rs141419177 0.00004
NM_001384140.1(PCDH15):c.3328G>A (p.Asp1110Asn) rs138363888 0.00004
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=) rs202091131 0.00004
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys) rs138398244 0.00004
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00004
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg) rs550282961 0.00004
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser) rs773753270 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu) rs759208006 0.00004
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val) rs779957406 0.00003
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile) rs967946862 0.00003
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 0.00003
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=) rs756484846 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg) rs778508372 0.00003
NM_001384140.1(PCDH15):c.4319C>T (p.Pro1440Leu) rs764173741 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs) rs760669176 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile) rs772081755 0.00003
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr) rs762526774 0.00003
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr) rs397517464 0.00003
NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser) rs1421385928 0.00003
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser) rs750061228 0.00003
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser) rs376353049 0.00003
NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser) rs199537944 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala) rs747795209 0.00002
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=) rs754253198 0.00002
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His) rs199824864 0.00002
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln) rs763530050 0.00002
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val) rs747028333 0.00002
NM_001384140.1(PCDH15):c.2731A>G (p.Thr911Ala) rs887302573 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser) rs143149062 0.00002
NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys) rs904260491 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln) rs371850442 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351 0.00002
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser) rs374283912 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr) rs775673790 0.00002
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_033056.4(PCDH15):c.4724_4726dup (p.Ser1575_Gln1576insArg) rs762814533 0.00002
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=) rs760796538 0.00002
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe) rs752231055 0.00002
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly) rs2076301014 0.00002
NM_001384140.1(PCDH15):c.1007G>A (p.Arg336Gln) rs370442031 0.00001
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936 0.00001
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His) rs778369017 0.00001
NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu) rs1410944616 0.00001
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu) rs747154146 0.00001
NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu) rs2049537464 0.00001
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala) rs142698812 0.00001
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=) rs763593526 0.00001
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys) rs201284699 0.00001
NM_001384140.1(PCDH15):c.1439C>T (p.Ser480Leu) rs1281151581 0.00001
NM_001384140.1(PCDH15):c.1440+7A>C rs540070936 0.00001
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala) rs570048496 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) rs764162624 0.00001
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp) rs771456526 0.00001
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg) rs200226791 0.00001
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) rs139104747 0.00001
NM_001384140.1(PCDH15):c.1898C>T (p.Ala633Val) rs1475018348 0.00001
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu) rs757098609 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=) rs201636125 0.00001
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly) rs765443935 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly) rs200430672 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu) rs771024131 0.00001
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly) rs1223956690 0.00001
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys) rs780335938 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr) rs200748221 0.00001
NM_001384140.1(PCDH15):c.3502-7C>T rs757876538 0.00001
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=) rs753725514 0.00001
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) rs763978654 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys) rs752031456 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783 0.00001
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg) rs376146659 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=) rs775658931 0.00001
NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly) rs772491935 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00001
NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter) rs1198732380 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384140.1(PCDH15):c.526G>A (p.Ala176Thr) rs758750902 0.00001
NM_001384140.1(PCDH15):c.907C>T (p.Pro303Ser) rs1283485823 0.00001
NM_001384140.1(PCDH15):c.925C>A (p.Gln309Lys) rs762029000 0.00001
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr) rs1415736170 0.00001
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn) rs768952458 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs) rs748611625 0.00001
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=) rs775752587 0.00001
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu) rs1339913420 0.00001
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu) rs1268531021 0.00001
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser) rs775203432 0.00001
NM_033056.4(PCDH15):c.5655C>T (p.His1885=) rs758953502 0.00001
NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro) rs759950014 0.00001
NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly) rs774976789 0.00001
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly) rs763251067 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_033056.4(PCDH15):c.5847C>G (p.His1949Gln) rs778841983 0.00001
NM_001384140.1(PCDH15):c.-5AGA[1] (p.Met1del) rs1555135527
NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala) rs2051732380
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=) rs1315291067
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly) rs1294048440
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu) rs565753445
NM_001384140.1(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del) rs1394210823
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser) rs1371226970
NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile)
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) rs2133060549
NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr) rs2042563083
NM_001384140.1(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_001384140.1(PCDH15):c.1998-21GTTT[2] rs763135922
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=) rs200699443
NM_001384140.1(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile) rs1471005419
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr) rs567811243
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn) rs2092876050
NM_001384140.1(PCDH15):c.2751+7G>T rs2092871169
NM_001384140.1(PCDH15):c.2751+8C>T rs1360011079
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=) rs2088092428
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala) rs2134276764
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro) rs2088082400
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=) rs1345969752
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg) rs1303595236
NM_001384140.1(PCDH15):c.3410A>G (p.Glu1137Gly) rs1439470139
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del) rs1554852410
NM_001384140.1(PCDH15):c.3502-13dup rs750835578
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=) rs61731382
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=) rs2133038894
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala) rs2078805937
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe) rs937214642
NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His) rs766636473
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys) rs2132762710
NM_001384140.1(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_001384140.1(PCDH15):c.3983+2dup rs1554827124
NM_001384140.1(PCDH15):c.3987T>G (p.Phe1329Leu) rs2077014769
NM_001384140.1(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys) rs1358647851
NM_001384140.1(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val) rs752371584
NM_001384140.1(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_001384140.1(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser) rs2076761111
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser) rs766039931
NM_001384140.1(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu)
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=) rs949983423
NM_001384140.1(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_001384140.1(PCDH15):c.4318C>G (p.Pro1440Ala) rs2076754812
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu) rs767761740
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) rs2076749331
NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT rs1554819686
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3] rs1452730552
NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys)
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys) rs1554816509
NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr) rs1554816211
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu) rs1554816210
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter) rs1554816196
NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del) rs1554816165
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1009G>A rs1554815909
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del rs1588876049
NM_001384140.1(PCDH15):c.4671+1257_4671+1258del rs1554815781
NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup rs1343032451
NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup rs1588874677
NM_001384140.1(PCDH15):c.4671+1393G>C
NM_001384140.1(PCDH15):c.4671+1403GAG[5] rs1272584101
NM_001384140.1(PCDH15):c.4671+1412G>T rs1467453189
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4671+1511_4671+1519del rs1554815654
NM_001384140.1(PCDH15):c.4671+1550C>T rs765589050
NM_001384140.1(PCDH15):c.4671+1577GAA[3] rs774006219
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del rs769671738
NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup rs1554815534
NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup rs1554815468
NM_001384140.1(PCDH15):c.4672-1662del rs1554815484
NM_001384140.1(PCDH15):c.4672-1666G>T rs1297423576
NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup rs1554815527
NM_001384140.1(PCDH15):c.4672-2A>G rs1554814991
NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs) rs1589057333
NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs) rs778963761
NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup) rs1554814938
NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs) rs1554814927
NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs) rs750833316
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs) rs757520086
NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs) rs1554814800
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup) rs1554814729
NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs) rs1554814684
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs) rs1320916581
NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter) rs1554814683
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs) rs1554814669
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del) rs1554814635
NM_001384140.1(PCDH15):c.705+2_705+3insTT rs1554903836
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=) rs112059717
NM_001384140.1(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_001384140.1(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_001384140.1(PCDH15):c.876+7A>G rs1435301478
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg)
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg) rs1406470633
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=) rs2076416258
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu) rs765129268
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal) rs2076402324
NM_033056.4(PCDH15):c.4733_4736dup (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup) rs758259410
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup) rs772692454
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) rs2076368967
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del) rs777129729
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del) rs761936890
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg) rs1564533607
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1]) rs2076338069
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=) rs767304005
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter) rs2076312170
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala) rs1420803454
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del) rs771643291
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe) rs2132483191
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr) rs202223635
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs) rs778380770
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs) rs568470164
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile) rs931395591
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs) rs757543551
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436

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