ClinVar Miner

List of variants in gene PCDH15 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 720
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His) rs142678284 0.00047
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.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.1649T>G (p.Val550Gly) rs61735482 0.00022
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
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.3673A>G (p.Thr1225Ala) rs61731381 0.00014
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.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val) rs369029215 0.00010
NM_033056.4(PCDH15):c.5196A>T (p.Glu1732Asp) rs147717147 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.1997C>T (p.Thr666Ile) rs146121822 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.3179C>T (p.Ala1060Val) rs766295206 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.1627G>A (p.Glu543Lys) rs187850596 0.00006
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln) rs753457449 0.00006
NM_001384140.1(PCDH15):c.1942A>G (p.Ile648Val) rs745647844 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.2396G>A (p.Arg799His) rs199824864 0.00006
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454 0.00006
NM_001384140.1(PCDH15):c.3501+6C>T rs370178425 0.00006
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 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_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.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.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_033056.4(PCDH15):c.5725C>T (p.Arg1909Cys) rs373813469 0.00005
NM_001384140.1(PCDH15):c.1208A>G (p.Tyr403Cys) rs767558664 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.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384140.1(PCDH15):c.3937A>G (p.Ile1313Val) rs534588814 0.00004
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys) rs138398244 0.00004
NM_001384140.1(PCDH15):c.4072G>C (p.Glu1358Gln) rs766259569 0.00004
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg) rs550282961 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_001384140.1(PCDH15):c.952G>C (p.Asp318His) rs747921916 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.4934T>C (p.Leu1645Pro) rs557722266 0.00004
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666 0.00004
NM_033056.4(PCDH15):c.5189T>A (p.Ile1730Asn) rs727503364 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.2200G>A (p.Ala734Thr) rs781579614 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.3448A>G (p.Ile1150Val) rs1392434535 0.00003
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp) rs150387187 0.00003
NM_001384140.1(PCDH15):c.4198A>G (p.Arg1400Gly) rs765069475 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.4349A>C (p.Glu1450Ala) rs1468837125 0.00003
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu) rs534173969 0.00003
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser) rs727503368 0.00003
NM_001384140.1(PCDH15):c.641T>C (p.Ile214Thr) rs772525423 0.00003
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys) rs565693539 0.00003
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg) rs727503367 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 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.1382G>A (p.Arg461His) rs762095586 0.00002
NM_001384140.1(PCDH15):c.1709G>C (p.Gly570Ala) rs769261753 0.00002
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=) rs754253198 0.00002
NM_001384140.1(PCDH15):c.2188G>A (p.Glu730Lys) rs770931801 0.00002
NM_001384140.1(PCDH15):c.2510C>T (p.Thr837Ile) rs776536099 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.319-3C>T rs773981919 0.00002
NM_001384140.1(PCDH15):c.319C>T (p.Pro107Ser) rs372716511 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.3865A>G (p.Ile1289Val) rs1258330774 0.00002
NM_001384140.1(PCDH15):c.3878G>A (p.Arg1293Gln) rs536702239 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001384140.1(PCDH15):c.4063C>T (p.Arg1355Trp) rs759094376 0.00002
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln) rs371850442 0.00002
NM_001384140.1(PCDH15):c.4090A>G (p.Lys1364Glu) rs569275683 0.00002
NM_001384140.1(PCDH15):c.4203-9C>A rs746654002 0.00002
NM_001384140.1(PCDH15):c.4303C>A (p.Pro1435Thr) rs766039931 0.00002
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser) rs374283912 0.00002
NM_001384140.1(PCDH15):c.640A>G (p.Ile214Val) rs375868631 0.00002
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr) rs775673790 0.00002
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val) rs202010562 0.00002
NM_033056.4(PCDH15):c.5618C>G (p.Thr1873Arg) rs754865702 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033056.4(PCDH15):c.5709A>G (p.Ile1903Met) rs747899393 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.1034C>A (p.Ala345Glu) rs759047277 0.00001
NM_001384140.1(PCDH15):c.1108G>A (p.Asp370Asn) rs1482209592 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.1280T>C (p.Val427Ala) rs142698812 0.00001
NM_001384140.1(PCDH15):c.1343A>G (p.Tyr448Cys) rs1214237090 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.1469G>C (p.Ser490Thr) rs139018592 0.00001
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala) rs570048496 0.00001
NM_001384140.1(PCDH15):c.1570C>A (p.Pro524Thr) rs751255567 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.1631T>G (p.Ile544Ser) rs886047066 0.00001
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) rs764162624 0.00001
NM_001384140.1(PCDH15):c.1771C>G (p.Pro591Ala) rs1277257526 0.00001
NM_001384140.1(PCDH15):c.1808T>C (p.Ile603Thr) rs893216164 0.00001
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp) rs771456526 0.00001
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) rs139104747 0.00001
NM_001384140.1(PCDH15):c.1882G>A (p.Ala628Thr) rs1234835810 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.206C>T (p.Pro69Leu) rs769113786 0.00001
NM_001384140.1(PCDH15):c.2134G>A (p.Asp712Asn) rs1485361682 0.00001
NM_001384140.1(PCDH15):c.2138A>G (p.Asn713Ser) rs190878515 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.2333A>G (p.Asn778Ser) rs754777315 0.00001
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly) rs765443935 0.00001
NM_001384140.1(PCDH15):c.2358A>C (p.Glu786Asp) rs764628908 0.00001
NM_001384140.1(PCDH15):c.2389C>T (p.His797Tyr) rs1333595432 0.00001
NM_001384140.1(PCDH15):c.2410A>T (p.Thr804Ser) rs2092971839 0.00001
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly) rs200430672 0.00001
NM_001384140.1(PCDH15):c.2449C>T (p.Pro817Ser) rs759961676 0.00001
NM_001384140.1(PCDH15):c.2450C>T (p.Pro817Leu) rs1399196807 0.00001
NM_001384140.1(PCDH15):c.2462A>G (p.Asn821Ser) rs147831990 0.00001
NM_001384140.1(PCDH15):c.250T>C (p.Trp84Arg) rs752604584 0.00001
NM_001384140.1(PCDH15):c.2539G>A (p.Asp847Asn) rs751941551 0.00001
NM_001384140.1(PCDH15):c.2573G>A (p.Ser858Asn) rs775276705 0.00001
NM_001384140.1(PCDH15):c.261G>A (p.Met87Ile) rs1289815447 0.00001
NM_001384140.1(PCDH15):c.2696T>G (p.Phe899Cys) rs958092001 0.00001
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu) rs771024131 0.00001
NM_001384140.1(PCDH15):c.2833A>G (p.Ile945Val) rs773566320 0.00001
NM_001384140.1(PCDH15):c.290A>G (p.Asn97Ser) rs1948816721 0.00001
NM_001384140.1(PCDH15):c.2932A>G (p.Ile978Val) rs755894176 0.00001
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly) rs1223956690 0.00001
NM_001384140.1(PCDH15):c.3001A>G (p.Ile1001Val) rs146327982 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.3353A>G (p.Asn1118Ser) rs544044508 0.00001
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr) rs200748221 0.00001
NM_001384140.1(PCDH15):c.344T>C (p.Val115Ala) rs1315804369 0.00001
NM_001384140.1(PCDH15):c.3496G>A (p.Val1166Met) rs145102285 0.00001
NM_001384140.1(PCDH15):c.3497T>A (p.Val1166Glu) rs1469221801 0.00001
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) rs763978654 0.00001
NM_001384140.1(PCDH15):c.3679G>A (p.Asp1227Asn) rs368127988 0.00001
NM_001384140.1(PCDH15):c.368A>G (p.Lys123Arg) rs757563938 0.00001
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458 0.00001
NM_001384140.1(PCDH15):c.3731A>G (p.Asn1244Ser) rs1264819441 0.00001
NM_001384140.1(PCDH15):c.3767C>T (p.Pro1256Leu) rs949234256 0.00001
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys) rs752031456 0.00001
NM_001384140.1(PCDH15):c.4096A>G (p.Arg1366Gly) rs745985513 0.00001
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg) rs376146659 0.00001
NM_001384140.1(PCDH15):c.4202+3A>G rs1564563130 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4253C>T (p.Ala1418Val) rs2076763093 0.00001
NM_001384140.1(PCDH15):c.4301C>T (p.Ala1434Val) rs572629527 0.00001
NM_001384140.1(PCDH15):c.4360A>G (p.Ser1454Gly) rs144616228 0.00001
NM_001384140.1(PCDH15):c.4368-2238_4368-2227del rs746591991 0.00001
NM_001384140.1(PCDH15):c.524G>A (p.Gly175Glu) rs766924319 0.00001
NM_001384140.1(PCDH15):c.527C>T (p.Ala176Val) rs1379900720 0.00001
NM_001384140.1(PCDH15):c.562G>C (p.Glu188Gln) rs1943290647 0.00001
NM_001384140.1(PCDH15):c.566A>G (p.Tyr189Cys) rs760309437 0.00001
NM_001384140.1(PCDH15):c.814C>G (p.Pro272Ala) rs1380529068 0.00001
NM_001384140.1(PCDH15):c.832C>T (p.Arg278Cys) rs767577700 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.4385A>G (p.His1462Arg) rs781324011 0.00001
NM_033056.4(PCDH15):c.4394A>G (p.Gln1465Arg) rs1393874885 0.00001
NM_033056.4(PCDH15):c.4449G>A (p.Met1483Ile) rs2076430508 0.00001
NM_033056.4(PCDH15):c.4459T>C (p.Ser1487Pro) rs727504071 0.00001
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr) rs1415736170 0.00001
NM_033056.4(PCDH15):c.4666A>G (p.Ile1556Val) rs922438301 0.00001
NM_033056.4(PCDH15):c.4739T>C (p.Leu1580Ser) rs2076401965 0.00001
NM_033056.4(PCDH15):c.4762G>A (p.Val1588Ile) rs774226248 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.5068A>T (p.Ile1690Phe) rs1375062684 0.00001
NM_033056.4(PCDH15):c.5194G>A (p.Glu1732Lys) rs779147587 0.00001
NM_033056.4(PCDH15):c.5195A>C (p.Glu1732Ala) rs1369826568 0.00001
NM_033056.4(PCDH15):c.5204C>T (p.Ala1735Val) rs749342805 0.00001
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu) rs1339913420 0.00001
NM_033056.4(PCDH15):c.5269T>C (p.Ser1757Pro) rs542243503 0.00001
NM_033056.4(PCDH15):c.5312T>G (p.Ile1771Ser) rs1437288212 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.5473A>G (p.Ile1825Val) rs762129080 0.00001
NM_033056.4(PCDH15):c.5527A>G (p.Ile1843Val) rs536348883 0.00001
NM_033056.4(PCDH15):c.5586G>A (p.Met1862Ile) rs371762506 0.00001
NM_033056.4(PCDH15):c.5620G>A (p.Asp1874Asn) rs751570688 0.00001
NM_033056.4(PCDH15):c.5623C>A (p.Pro1875Thr) rs758308006 0.00001
NM_033056.4(PCDH15):c.5656G>A (p.Val1886Ile) rs767706131 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.5798A>G (p.Asn1933Ser) rs761347698 0.00001
NM_033056.4(PCDH15):c.5799C>G (p.Asn1933Lys) rs2076294427 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NC_000010.10:g.(?_55581618)_(56424022_?)dup
NC_000010.10:g.(?_55588305)_(55588353_?)del
NC_000010.10:g.(?_55698555)_(55698735_?)del
NC_000010.10:g.(?_55755389)_(55755545_?)dup
NC_000010.10:g.(?_55955423)_(55955669_?)del
NC_000010.10:g.(?_55955423)_(55955669_?)dup
NC_000010.10:g.(?_56423912)_(56424022_?)dup
NC_000010.11:g.(?_54066757)_(54090063_?)dup
NM_001384140.1(PCDH15):c.1021C>T (p.His341Tyr) rs2134107938
NM_001384140.1(PCDH15):c.1034C>T (p.Ala345Val) rs759047277
NM_001384140.1(PCDH15):c.1067A>T (p.Asp356Val) rs2051721465
NM_001384140.1(PCDH15):c.1074C>G (p.His358Gln) rs2134107295
NM_001384140.1(PCDH15):c.1076A>T (p.Gln359Leu) rs2134107251
NM_001384140.1(PCDH15):c.1081T>C (p.Phe361Leu) rs2134107228
NM_001384140.1(PCDH15):c.1099-10T>A rs2133925934
NM_001384140.1(PCDH15):c.1103A>G (p.Glu368Gly)
NM_001384140.1(PCDH15):c.1136C>T (p.Ala379Val) rs2049565591
NM_001384140.1(PCDH15):c.1145A>G (p.His382Arg)
NM_001384140.1(PCDH15):c.1204G>A (p.Gly402Ser)
NM_001384140.1(PCDH15):c.1231G>A (p.Gly411Arg) rs2133924160
NM_001384140.1(PCDH15):c.1255A>C (p.Asn419His)
NM_001384140.1(PCDH15):c.1274G>T (p.Arg425Ile)
NM_001384140.1(PCDH15):c.1302A>C (p.Glu434Asp)
NM_001384140.1(PCDH15):c.1306-3A>G rs2133818771
NM_001384140.1(PCDH15):c.1338T>A (p.Asn446Lys)
NM_001384140.1(PCDH15):c.1379C>T (p.Thr460Ile) rs773884678
NM_001384140.1(PCDH15):c.1381C>T (p.Arg461Cys)
NM_001384140.1(PCDH15):c.1406T>C (p.Val469Ala)
NM_001384140.1(PCDH15):c.1420C>G (p.Gln474Glu)
NM_001384140.1(PCDH15):c.1440G>A (p.Ser480=)
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.1471G>A (p.Glu491Lys)
NM_001384140.1(PCDH15):c.1487A>G (p.Asn496Ser) rs1398600387
NM_001384140.1(PCDH15):c.1489A>G (p.Ile497Val) rs759034797
NM_001384140.1(PCDH15):c.1499T>A (p.Met500Lys)
NM_001384140.1(PCDH15):c.14T>G (p.Phe5Cys) rs1430074299
NM_001384140.1(PCDH15):c.1509T>G (p.Asn503Lys)
NM_001384140.1(PCDH15):c.1519C>G (p.Pro507Ala)
NM_001384140.1(PCDH15):c.1527C>A (p.Phe509Leu) rs2048201312
NM_001384140.1(PCDH15):c.1541A>G (p.Tyr514Cys)
NM_001384140.1(PCDH15):c.1546G>A (p.Val516Met)
NM_001384140.1(PCDH15):c.1559C>T (p.Thr520Ile) rs2133800068
NM_001384140.1(PCDH15):c.1571C>G (p.Pro524Arg)
NM_001384140.1(PCDH15):c.158-9G>A rs2135028247
NM_001384140.1(PCDH15):c.1603G>T (p.Asp535Tyr) rs946296710
NM_001384140.1(PCDH15):c.1609G>A (p.Asp537Asn) rs2044739140
NM_001384140.1(PCDH15):c.1615G>A (p.Gly539Arg) rs773321787
NM_001384140.1(PCDH15):c.1625G>C (p.Gly542Ala)
NM_001384140.1(PCDH15):c.1655C>T (p.Ala552Val) rs1004800410
NM_001384140.1(PCDH15):c.1664A>C (p.Asp555Ala)
NM_001384140.1(PCDH15):c.1684A>G (p.Thr562Ala) rs2133338613
NM_001384140.1(PCDH15):c.1711G>A (p.Val571Met)
NM_001384140.1(PCDH15):c.1730G>T (p.Arg577Leu)
NM_001384140.1(PCDH15):c.1735T>G (p.Tyr579Asp)
NM_001384140.1(PCDH15):c.1744A>G (p.Thr582Ala)
NM_001384140.1(PCDH15):c.1745C>A (p.Thr582Lys)
NM_001384140.1(PCDH15):c.174C>A (p.Asp58Glu) rs1169100269
NM_001384140.1(PCDH15):c.1768C>G (p.Pro590Ala)
NM_001384140.1(PCDH15):c.176A>G (p.Asn59Ser) rs1948831467
NM_001384140.1(PCDH15):c.1781G>T (p.Arg594Leu)
NM_001384140.1(PCDH15):c.1789T>C (p.Ser597Pro) rs2133062157
NM_001384140.1(PCDH15):c.17A>G (p.Tyr6Cys) rs751253853
NM_001384140.1(PCDH15):c.1805A>G (p.Tyr602Cys)
NM_001384140.1(PCDH15):c.182T>G (p.Leu61Arg) rs1050414439
NM_001384140.1(PCDH15):c.1835G>C (p.Ser612Thr) rs2133061458
NM_001384140.1(PCDH15):c.1837C>T (p.Pro613Ser)
NM_001384140.1(PCDH15):c.1843C>A (p.Arg615Ser) rs139104747
NM_001384140.1(PCDH15):c.1849C>T (p.Pro617Ser) rs1291833524
NM_001384140.1(PCDH15):c.1855C>A (p.Leu619Met) rs779781651
NM_001384140.1(PCDH15):c.1855C>G (p.Leu619Val) rs779781651
NM_001384140.1(PCDH15):c.1859T>A (p.Met620Lys)
NM_001384140.1(PCDH15):c.1887G>A (p.Met629Ile)
NM_001384140.1(PCDH15):c.1892T>C (p.Val631Ala)
NM_001384140.1(PCDH15):c.1895G>C (p.Gly632Ala)
NM_001384140.1(PCDH15):c.1926T>A (p.Asp642Glu)
NM_001384140.1(PCDH15):c.1928G>A (p.Arg643Gln)
NM_001384140.1(PCDH15):c.1931A>C (p.Glu644Ala) rs2094574219
NM_001384140.1(PCDH15):c.1958A>G (p.Glu653Gly)
NM_001384140.1(PCDH15):c.1987C>T (p.Leu663Phe) rs758868732
NM_001384140.1(PCDH15):c.1999A>G (p.Thr667Ala)
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=) rs200699443
NM_001384140.1(PCDH15):c.2002G>A (p.Gly668Arg) rs1051206153
NM_001384140.1(PCDH15):c.2036A>G (p.Glu679Gly)
NM_001384140.1(PCDH15):c.2039G>A (p.Ser680Asn) rs762818138
NM_001384140.1(PCDH15):c.2059A>C (p.Ile687Leu) rs773061675
NM_001384140.1(PCDH15):c.2069C>T (p.Ala690Val)
NM_001384140.1(PCDH15):c.2082G>C (p.Arg694Ser)
NM_001384140.1(PCDH15):c.2102C>A (p.Ala701Asp) rs199537178
NM_001384140.1(PCDH15):c.2117T>C (p.Val706Ala)
NM_001384140.1(PCDH15):c.2127T>A (p.Asp709Glu) rs996460868
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile) rs1471005419
NM_001384140.1(PCDH15):c.2132A>G (p.Asn711Ser)
NM_001384140.1(PCDH15):c.2168G>T (p.Arg723Ile) rs1428697668
NM_001384140.1(PCDH15):c.2179G>C (p.Val727Leu) rs2094144298
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_001384140.1(PCDH15):c.2201C>T (p.Ala734Val)
NM_001384140.1(PCDH15):c.2210G>C (p.Gly737Ala) rs902984656
NM_001384140.1(PCDH15):c.2215G>C (p.Val739Leu)
NM_001384140.1(PCDH15):c.2240G>T (p.Gly747Val) rs765302336
NM_001384140.1(PCDH15):c.2259C>G (p.His753Gln) rs1022094120
NM_001384140.1(PCDH15):c.2264G>T (p.Ser755Ile) rs2135323496
NM_001384140.1(PCDH15):c.2273A>T (p.Asn758Ile)
NM_001384140.1(PCDH15):c.2291G>A (p.Arg764His)
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.2365G>C (p.Val789Leu) rs1199463939
NM_001384140.1(PCDH15):c.239A>G (p.Asn80Ser)
NM_001384140.1(PCDH15):c.2413T>G (p.Leu805Val)
NM_001384140.1(PCDH15):c.2450C>G (p.Pro817Arg)
NM_001384140.1(PCDH15):c.2451_2452delinsAA (p.Val818Met)
NM_001384140.1(PCDH15):c.2458A>G (p.Thr820Ala)
NM_001384140.1(PCDH15):c.2468C>T (p.Thr823Ile)
NM_001384140.1(PCDH15):c.2491A>T (p.Asn831Tyr) rs2135319664
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr) rs567811243
NM_001384140.1(PCDH15):c.2540A>G (p.Asp847Gly) rs2092879666
NM_001384140.1(PCDH15):c.2580A>T (p.Glu860Asp)
NM_001384140.1(PCDH15):c.2604T>A (p.His868Gln)
NM_001384140.1(PCDH15):c.2615G>A (p.Gly872Glu) rs2135283773
NM_001384140.1(PCDH15):c.2617G>A (p.Glu873Lys)
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn) rs2092876050
NM_001384140.1(PCDH15):c.2647G>A (p.Glu883Lys) rs2135283245
NM_001384140.1(PCDH15):c.2648A>C (p.Glu883Ala)
NM_001384140.1(PCDH15):c.264T>G (p.Asp88Glu) rs2135024168
NM_001384140.1(PCDH15):c.2668G>A (p.Ala890Thr)
NM_001384140.1(PCDH15):c.268G>A (p.Val90Ile)
NM_001384140.1(PCDH15):c.2714T>G (p.Met905Arg)
NM_001384140.1(PCDH15):c.2723G>C (p.Gly908Ala)
NM_001384140.1(PCDH15):c.2728G>A (p.Ala910Thr) rs139175351
NM_001384140.1(PCDH15):c.2741T>C (p.Val914Ala)
NM_001384140.1(PCDH15):c.2764T>A (p.Tyr922Asn) rs2091808213
NM_001384140.1(PCDH15):c.2768C>A (p.Pro923His) rs191577774
NM_001384140.1(PCDH15):c.2786_2787delinsAC (p.Arg929His) rs2134903782
NM_001384140.1(PCDH15):c.2798G>A (p.Gly933Glu) rs372984970
NM_001384140.1(PCDH15):c.2809C>G (p.Pro937Ala)
NM_001384140.1(PCDH15):c.284T>A (p.Phe95Tyr) rs1190395687
NM_001384140.1(PCDH15):c.284T>C (p.Phe95Ser)
NM_001384140.1(PCDH15):c.2868+4A>T rs2091797981
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.2868+5del rs2134900862
NM_001384140.1(PCDH15):c.2868+6T>C rs2091797634
NM_001384140.1(PCDH15):c.2875C>T (p.Pro959Ser)
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr) rs568865061
NM_001384140.1(PCDH15):c.2903A>G (p.Asp968Gly)
NM_001384140.1(PCDH15):c.2904T>A (p.Asp968Glu) rs2134302359
NM_001384140.1(PCDH15):c.2918C>T (p.Pro973Leu)
NM_001384140.1(PCDH15):c.2927C>A (p.Ala976Asp)
NM_001384140.1(PCDH15):c.2930G>A (p.Ser977Asn)
NM_001384140.1(PCDH15):c.2969C>A (p.Thr990Lys) rs2134301436
NM_001384140.1(PCDH15):c.2972G>A (p.Arg991Gln)
NM_001384140.1(PCDH15):c.29G>A (p.Cys10Tyr)
NM_001384140.1(PCDH15):c.301A>G (p.Arg101Gly)
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3029A>T (p.Asp1010Val)
NM_001384140.1(PCDH15):c.3048G>A (p.Met1016Ile) rs2088086111
NM_001384140.1(PCDH15):c.3061A>G (p.Thr1021Ala)
NM_001384140.1(PCDH15):c.3069G>C (p.Lys1023Asn)
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro) rs2088082400
NM_001384140.1(PCDH15):c.3085C>A (p.Pro1029Thr)
NM_001384140.1(PCDH15):c.308T>C (p.Leu103Pro)
NM_001384140.1(PCDH15):c.3101G>T (p.Arg1034Leu) rs907693214
NM_001384140.1(PCDH15):c.3119A>G (p.Tyr1040Cys) rs2088073753
NM_001384140.1(PCDH15):c.3124C>A (p.Pro1042Thr)
NM_001384140.1(PCDH15):c.3134T>C (p.Val1045Ala) rs2134074019
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.3161T>C (p.Met1054Thr) rs2134073743
NM_001384140.1(PCDH15):c.3162G>A (p.Met1054Ile)
NM_001384140.1(PCDH15):c.318+4A>C rs2135022182
NM_001384140.1(PCDH15):c.319-5T>G rs551311438
NM_001384140.1(PCDH15):c.3196A>C (p.Ser1066Arg)
NM_001384140.1(PCDH15):c.3233-13T>G
NM_001384140.1(PCDH15):c.323C>T (p.Pro108Leu) rs1161238143
NM_001384140.1(PCDH15):c.3275A>G (p.Asn1092Ser) rs2085810873
NM_001384140.1(PCDH15):c.3281C>T (p.Pro1094Leu)
NM_001384140.1(PCDH15):c.3306C>G (p.Ser1102Arg)
NM_001384140.1(PCDH15):c.3308A>G (p.Tyr1103Cys)
NM_001384140.1(PCDH15):c.3317G>C (p.Arg1106Pro)
NM_001384140.1(PCDH15):c.3317G>T (p.Arg1106Leu) rs746935130
NM_001384140.1(PCDH15):c.3350C>T (p.Ala1117Val)
NM_001384140.1(PCDH15):c.3359G>A (p.Arg1120Gln)
NM_001384140.1(PCDH15):c.3364C>T (p.Pro1122Ser)
NM_001384140.1(PCDH15):c.3392A>G (p.Tyr1131Cys)
NM_001384140.1(PCDH15):c.340A>G (p.Ile114Val)
NM_001384140.1(PCDH15):c.3418C>T (p.His1140Tyr)
NM_001384140.1(PCDH15):c.3444C>A (p.Phe1148Leu)
NM_001384140.1(PCDH15):c.3460T>C (p.Ser1154Pro)
NM_001384140.1(PCDH15):c.3484T>G (p.Ser1162Ala) rs2133664859
NM_001384140.1(PCDH15):c.3494G>T (p.Arg1165Ile)
NM_001384140.1(PCDH15):c.3509_3520del (p.Asp1170_Thr1173del)
NM_001384140.1(PCDH15):c.3536T>C (p.Met1179Thr) rs2133159602
NM_001384140.1(PCDH15):c.3542A>G (p.Tyr1181Cys) rs2079491172
NM_001384140.1(PCDH15):c.3551T>C (p.Ile1184Thr)
NM_001384140.1(PCDH15):c.3554T>C (p.Ile1185Thr)
NM_001384140.1(PCDH15):c.3562A>G (p.Ile1188Val) rs2133159238
NM_001384140.1(PCDH15):c.3586G>A (p.Val1196Ile)
NM_001384140.1(PCDH15):c.3590T>G (p.Val1197Gly)
NM_001384140.1(PCDH15):c.3601A>T (p.Thr1201Ser)
NM_001384140.1(PCDH15):c.3622A>G (p.Met1208Val)
NM_001384140.1(PCDH15):c.3647C>A (p.Ser1216Tyr) rs367721759
NM_001384140.1(PCDH15):c.3668T>G (p.Ile1223Ser)
NM_001384140.1(PCDH15):c.3691G>A (p.Gly1231Arg)
NM_001384140.1(PCDH15):c.3691G>C (p.Gly1231Arg)
NM_001384140.1(PCDH15):c.3709G>A (p.Asp1237Asn)
NM_001384140.1(PCDH15):c.3717C>A (p.Leu1239=) rs756769326
NM_001384140.1(PCDH15):c.3718-3C>G
NM_001384140.1(PCDH15):c.3718-3C>T rs755749920
NM_001384140.1(PCDH15):c.372A>T (p.Lys124Asn)
NM_001384140.1(PCDH15):c.3730A>G (p.Asn1244Asp)
NM_001384140.1(PCDH15):c.373G>A (p.Val125Met)
NM_001384140.1(PCDH15):c.3760A>C (p.Asn1254His) rs2078810465
NM_001384140.1(PCDH15):c.3766C>T (p.Pro1256Ser)
NM_001384140.1(PCDH15):c.3778G>C (p.Val1260Leu)
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
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.3814G>T (p.Asp1272Tyr)
NM_001384140.1(PCDH15):c.382A>G (p.Ile128Val)
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.3857T>C (p.Val1286Ala)
NM_001384140.1(PCDH15):c.3875G>A (p.Arg1292His)
NM_001384140.1(PCDH15):c.3875G>C (p.Arg1292Pro)
NM_001384140.1(PCDH15):c.3877C>T (p.Arg1293Trp)
NM_001384140.1(PCDH15):c.389A>G (p.Tyr130Cys)
NM_001384140.1(PCDH15):c.3928G>C (p.Val1310Leu)
NM_001384140.1(PCDH15):c.3937A>C (p.Ile1313Leu)
NM_001384140.1(PCDH15):c.3938T>C (p.Ile1313Thr)
NM_001384140.1(PCDH15):c.3963C>G (p.Ile1321Met) rs781522540
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_001384140.1(PCDH15):c.3974A>G (p.Glu1325Gly) rs780016103
NM_001384140.1(PCDH15):c.3980T>A (p.Phe1327Tyr)
NM_001384140.1(PCDH15):c.3983+3_3983+6del
NM_001384140.1(PCDH15):c.3984-6A>G rs2077015569
NM_001384140.1(PCDH15):c.4037G>C (p.Gly1346Ala)
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys) rs1358647851
NM_001384140.1(PCDH15):c.4079T>C (p.Val1360Ala)
NM_001384140.1(PCDH15):c.4085G>C (p.Ser1362Thr)
NM_001384140.1(PCDH15):c.4085G>T (p.Ser1362Ile)
NM_001384140.1(PCDH15):c.409G>T (p.Val137Leu)
NM_001384140.1(PCDH15):c.4111G>A (p.Gly1371Arg) rs778193787
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val) rs752371584
NM_001384140.1(PCDH15):c.4147ATC[2] (p.Ile1385del)
NM_001384140.1(PCDH15):c.4153A>G (p.Ile1385Val)
NM_001384140.1(PCDH15):c.4159T>C (p.Cys1387Arg)
NM_001384140.1(PCDH15):c.4163G>A (p.Cys1388Tyr)
NM_001384140.1(PCDH15):c.416A>T (p.Asp139Val)
NM_001384140.1(PCDH15):c.4193G>A (p.Ser1398Asn) rs2132634589
NM_001384140.1(PCDH15):c.4201C>G (p.Gln1401Glu) rs2077002696
NM_001384140.1(PCDH15):c.4203-5_4203-2dup
NM_001384140.1(PCDH15):c.4203G>T (p.Gln1401His)
NM_001384140.1(PCDH15):c.4204T>G (p.Phe1402Val)
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4211+5G>T
NM_001384140.1(PCDH15):c.4213C>T (p.Arg1405Cys)
NM_001384140.1(PCDH15):c.4223A>G (p.Glu1408Gly)
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser) rs2076761111
NM_001384140.1(PCDH15):c.4280C>A (p.Pro1427Gln) rs1054476980
NM_001384140.1(PCDH15):c.4280C>T (p.Pro1427Leu)
NM_001384140.1(PCDH15):c.428A>G (p.Asn143Ser)
NM_001384140.1(PCDH15):c.4292C>T (p.Pro1431Leu) rs2132578931
NM_001384140.1(PCDH15):c.42G>T (p.Gly14=) rs1043975803
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.4306C>T (p.Pro1436Ser) rs765570619
NM_001384140.1(PCDH15):c.4307C>G (p.Pro1436Arg)
NM_001384140.1(PCDH15):c.4307C>T (p.Pro1436Leu) rs555694787
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[3] (p.Pro1442_Pro1443del)
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.4318C>T (p.Pro1440Ser) rs2076754812
NM_001384140.1(PCDH15):c.4319C>G (p.Pro1440Arg) rs764173741
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del)
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
NM_001384140.1(PCDH15):c.4325C>T (p.Pro1442Leu)
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu) rs767761740
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser) rs397517459
NM_001384140.1(PCDH15):c.4360A>C (p.Ser1454Arg) rs144616228
NM_001384140.1(PCDH15):c.4367+6T>C
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) rs2076749331
NM_001384140.1(PCDH15):c.446A>C (p.His149Pro)
NM_001384140.1(PCDH15):c.451A>G (p.Ser151Gly) rs373042793
NM_001384140.1(PCDH15):c.461C>A (p.Ala154Asp)
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4672-1672C>T
NM_001384140.1(PCDH15):c.481C>G (p.Pro161Ala)
NM_001384140.1(PCDH15):c.488G>T (p.Gly163Val) rs1314363353
NM_001384140.1(PCDH15):c.49C>A (p.Leu17Met) rs2094534620
NM_001384140.1(PCDH15):c.536T>C (p.Ile179Thr) rs750822290
NM_001384140.1(PCDH15):c.541G>A (p.Asp181Asn)
NM_001384140.1(PCDH15):c.548C>A (p.Pro183Gln)
NM_001384140.1(PCDH15):c.594+9A>G
NM_001384140.1(PCDH15):c.595A>G (p.Thr199Ala)
NM_001384140.1(PCDH15):c.596C>A (p.Thr199Lys) rs2133884443
NM_001384140.1(PCDH15):c.596C>T (p.Thr199Ile) rs2133884443
NM_001384140.1(PCDH15):c.610T>A (p.Phe204Ile)
NM_001384140.1(PCDH15):c.619C>T (p.Pro207Ser) rs776708410
NM_001384140.1(PCDH15):c.626T>C (p.Met209Thr)
NM_001384140.1(PCDH15):c.639T>G (p.Asn213Lys) rs2133883377
NM_001384140.1(PCDH15):c.649A>G (p.Arg217Gly)
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_001384140.1(PCDH15):c.669A>C (p.Glu223Asp)
NM_001384140.1(PCDH15):c.675G>C (p.Lys225Asn) rs1403705158
NM_001384140.1(PCDH15):c.680G>T (p.Arg227Leu) rs766401854
NM_001384140.1(PCDH15):c.695T>C (p.Ile232Thr)
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=) rs112059717
NM_001384140.1(PCDH15):c.709C>A (p.Arg237Ser)
NM_001384140.1(PCDH15):c.710G>A (p.Arg237His)
NM_001384140.1(PCDH15):c.712G>A (p.Ala238Thr) rs957945054
NM_001384140.1(PCDH15):c.71G>C (p.Cys24Ser)
NM_001384140.1(PCDH15):c.734G>T (p.Arg245Leu)
NM_001384140.1(PCDH15):c.757G>A (p.Val253Met) rs1375595808
NM_001384140.1(PCDH15):c.758T>C (p.Val253Ala)
NM_001384140.1(PCDH15):c.75G>C (p.Leu25Phe)
NM_001384140.1(PCDH15):c.787C>T (p.Pro263Ser) rs2133651169
NM_001384140.1(PCDH15):c.790A>T (p.Met264Leu) rs895994892
NM_001384140.1(PCDH15):c.805G>A (p.Val269Ile) rs2061340191
NM_001384140.1(PCDH15):c.809T>C (p.Leu270Pro)
NM_001384140.1(PCDH15):c.823C>T (p.Arg275Cys)
NM_001384140.1(PCDH15):c.838C>G (p.Leu280Val)
NM_001384140.1(PCDH15):c.850G>A (p.Ala284Thr)
NM_001384140.1(PCDH15):c.859C>A (p.Pro287Thr) rs2133647918
NM_001384140.1(PCDH15):c.859C>T (p.Pro287Ser)
NM_001384140.1(PCDH15):c.866T>C (p.Leu289Ser)
NM_001384140.1(PCDH15):c.875C>T (p.Pro292Leu)
NM_001384140.1(PCDH15):c.876G>A (p.Pro292=)
NM_001384140.1(PCDH15):c.905C>G (p.Pro302Arg) rs2134389343
NM_001384140.1(PCDH15):c.908C>A (p.Pro303Gln)
NM_001384140.1(PCDH15):c.91+5G>A
NM_001384140.1(PCDH15):c.922G>T (p.Asp308Tyr) rs2054681160
NM_001384140.1(PCDH15):c.925C>G (p.Gln309Glu)
NM_001384140.1(PCDH15):c.935A>G (p.Asn312Ser) rs2134388632
NM_001384140.1(PCDH15):c.938T>A (p.Ile313Asn) rs2054677858
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384140.1(PCDH15):c.980T>A (p.Leu327His)
NM_001384140.1(PCDH15):c.998A>C (p.Asp333Ala) rs1294214109
NM_033056.4(PCDH15):c.4368-2A>G
NM_033056.4(PCDH15):c.4368-3_4369dup rs866966373
NM_033056.4(PCDH15):c.4368-3_4373dup
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg) rs1406470633
NM_033056.4(PCDH15):c.4403G>A (p.Gly1468Glu) rs1193544017
NM_033056.4(PCDH15):c.4408_4470dup (p.Ile1490_Glu1491insAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIle)
NM_033056.4(PCDH15):c.4429A>C (p.Lys1477Gln) rs2132511638
NM_033056.4(PCDH15):c.4462_4470dup (p.Ile1490_Glu1491insAsnThrIle)
NM_033056.4(PCDH15):c.4466C>G (p.Thr1489Ser)
NM_033056.4(PCDH15):c.4487C>T (p.Ala1496Val) rs2076426919
NM_033056.4(PCDH15):c.4498G>A (p.Gly1500Arg)
NM_033056.4(PCDH15):c.4504C>T (p.Leu1502Phe)
NM_033056.4(PCDH15):c.4523A>C (p.Lys1508Thr)
NM_033056.4(PCDH15):c.4550C>T (p.Ser1517Phe)
NM_033056.4(PCDH15):c.4552G>T (p.Asp1518Tyr)
NM_033056.4(PCDH15):c.4555G>A (p.Glu1519Lys) rs2132509071
NM_033056.4(PCDH15):c.4557G>C (p.Glu1519Asp) rs1469870284
NM_033056.4(PCDH15):c.4560T>A (p.Asp1520Glu)
NM_033056.4(PCDH15):c.4583T>C (p.Leu1528Pro) rs2132508490
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4618T>A (p.Ser1540Thr)
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu) rs765129268
NM_033056.4(PCDH15):c.4667T>C (p.Ile1556Thr)
NM_033056.4(PCDH15):c.4679G>C (p.Ser1560Thr)
NM_033056.4(PCDH15):c.4693G>A (p.Gly1565Ser)
NM_033056.4(PCDH15):c.4703A>G (p.Glu1568Gly)
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal) rs2076402324
NM_033056.4(PCDH15):c.4736G>A (p.Ser1579Asn)
NM_033056.4(PCDH15):c.4738_4816del (p.Leu1580fs)
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4775C>T (p.Pro1592Leu) rs2132504706
NM_033056.4(PCDH15):c.4797G>C (p.Gln1599His) rs563147370
NM_033056.4(PCDH15):c.4835C>G (p.Thr1612Ser) rs1395111195
NM_033056.4(PCDH15):c.4840A>C (p.Ile1614Leu) rs2132503430
NM_033056.4(PCDH15):c.4844G>A (p.Cys1615Tyr)
NM_033056.4(PCDH15):c.4847C>T (p.Thr1616Ile)
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905G>C (p.Glu1635Asp)
NM_033056.4(PCDH15):c.4905G>T (p.Glu1635Asp) rs760232069
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4915A>G (p.Ile1639Val)
NM_033056.4(PCDH15):c.4920G>T (p.Arg1640Ser) rs2132501686
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup) rs758259410
NM_033056.4(PCDH15):c.4944A>C (p.Glu1648Asp) rs2132500951
NM_033056.4(PCDH15):c.4964C>G (p.Ser1655Cys)
NM_033056.4(PCDH15):c.4970C>T (p.Ser1657Phe) rs2132500236
NM_033056.4(PCDH15):c.4978T>C (p.Ser1660Pro)
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5053T>C (p.Ser1685Pro)
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup) rs772692454
NM_033056.4(PCDH15):c.5072G>C (p.Ser1691Thr) rs1048667609
NM_033056.4(PCDH15):c.5075C>T (p.Ser1692Phe)
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) rs2076368967
NM_033056.4(PCDH15):c.5084A>C (p.Glu1695Ala)
NM_033056.4(PCDH15):c.5086T>G (p.Cys1696Gly)
NM_033056.4(PCDH15):c.5108C>T (p.Ser1703Leu) rs2132497440
NM_033056.4(PCDH15):c.5125C>T (p.His1709Tyr)
NM_033056.4(PCDH15):c.5138C>G (p.Ser1713Cys)
NM_033056.4(PCDH15):c.5141G>A (p.Arg1714Lys)
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5155A>G (p.Ile1719Val) rs2076362442
NM_033056.4(PCDH15):c.5159G>T (p.Cys1720Phe)
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5183G>T (p.Arg1728Ile)
NM_033056.4(PCDH15):c.5201T>C (p.Phe1734Ser)
NM_033056.4(PCDH15):c.5206C>T (p.His1736Tyr)
NM_033056.4(PCDH15):c.5245CCT[2] (p.Pro1751_Pro1752del)
NM_033056.4(PCDH15):c.5245CCT[5] (p.Pro1752_Ile1753insPro)
NM_033056.4(PCDH15):c.5249C>T (p.Pro1750Leu) rs2076355044
NM_033056.4(PCDH15):c.5270C>T (p.Ser1757Phe) rs2076351421
NM_033056.4(PCDH15):c.5282_5308del (p.Ala1761_Pro1769del)
NM_033056.4(PCDH15):c.5287G>C (p.Ala1763Pro) rs1020000476
NM_033056.4(PCDH15):c.5291C>T (p.Pro1764Leu)
NM_033056.4(PCDH15):c.5294T>A (p.Leu1765His) rs1564534077
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5297C>T (p.Ala1766Val)
NM_033056.4(PCDH15):c.5323T>C (p.Ser1775Pro)
NM_033056.4(PCDH15):c.5326C>T (p.Leu1776Phe)
NM_033056.4(PCDH15):c.5338C>A (p.Pro1780Thr)
NM_033056.4(PCDH15):c.5341C>T (p.Pro1781Ser)
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1]) rs2076338069
NM_033056.4(PCDH15):c.5351C>A (p.Pro1784His)
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5375C>G (p.Pro1792Arg) rs374325488
NM_033056.4(PCDH15):c.5405C>T (p.Thr1802Met)
NM_033056.4(PCDH15):c.5411G>T (p.Gly1804Val)
NM_033056.4(PCDH15):c.5420C>A (p.Thr1807Lys) rs2076328131
NM_033056.4(PCDH15):c.5429T>G (p.Leu1810Arg) rs1299654125
NM_033056.4(PCDH15):c.5432T>C (p.Leu1811Pro)
NM_033056.4(PCDH15):c.5446A>C (p.Thr1816Pro)
NM_033056.4(PCDH15):c.5452C>T (p.Leu1818Phe)
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5483C>T (p.Pro1828Leu)
NM_033056.4(PCDH15):c.5533G>C (p.Gly1845Arg)
NM_033056.4(PCDH15):c.5549C>T (p.Thr1850Ile) rs2076316565
NM_033056.4(PCDH15):c.5558T>C (p.Met1853Thr)
NM_033056.4(PCDH15):c.5572A>G (p.Ile1858Val) rs2076314128
NM_033056.4(PCDH15):c.5584A>G (p.Met1862Val)
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala) rs1420803454
NM_033056.4(PCDH15):c.5599A>T (p.Thr1867Ser)
NM_033056.4(PCDH15):c.5630G>A (p.Arg1877Lys)
NM_033056.4(PCDH15):c.5636C>A (p.Pro1879Gln)
NM_033056.4(PCDH15):c.5675T>A (p.Leu1892His) rs2132483165
NM_033056.4(PCDH15):c.5683T>G (p.Ser1895Ala) rs759950014
NM_033056.4(PCDH15):c.5695A>G (p.Met1899Val) rs1487220938
NM_033056.4(PCDH15):c.5697G>A (p.Met1899Ile) rs771258779
NM_033056.4(PCDH15):c.5702_5705del (p.Ser1901fs)
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr) rs202223635
NM_033056.4(PCDH15):c.5710G>C (p.Glu1904Gln)
NM_033056.4(PCDH15):c.5714A>G (p.Lys1905Arg)
NM_033056.4(PCDH15):c.5716A>G (p.Asn1906Asp)
NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5741_5743dup (p.Glu1914_Leu1915insGln)
NM_033056.4(PCDH15):c.5753T>C (p.Met1918Thr) rs751609887
NM_033056.4(PCDH15):c.5759C>G (p.Pro1920Arg) rs2076296562
NM_033056.4(PCDH15):c.5761T>G (p.Ser1921Ala) rs200228833
NM_033056.4(PCDH15):c.5762C>T (p.Ser1921Leu) rs2132481220
NM_033056.4(PCDH15):c.5771C>T (p.Thr1924Ile)
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.5821G>A (p.Val1941Ile)
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys) rs200913448
NM_033056.4(PCDH15):c.5827G>A (p.Gly1943Arg)
NM_033056.4(PCDH15):c.5831C>A (p.Thr1944Asn)
NM_033056.4(PCDH15):c.5843C>G (p.Ser1948Cys)
NM_033056.4(PCDH15):c.5849G>C (p.Ser1950Thr)
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.5850T>A (p.Ser1950Arg)
NM_033056.4(PCDH15):c.5854T>C (p.Ser1952Pro)
NM_033056.4(PCDH15):c.5866T>G (p.Ter1956Glu) rs2132479377

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.