ClinVar Miner

List of variants in gene PCDH15 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 2554
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_001384140.1(PCDH15):c.1306-4123C>T rs16905686 0.17435
NM_001384140.1(PCDH15):c.4671+1344A>C rs11003863 0.17427
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001384140.1(PCDH15):c.4671+1114A>C rs16937769 0.01163
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_001384140.1(PCDH15):c.4672-1637G>A rs139441645 0.00746
NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp) rs41274622 0.00741
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=) rs16937781 0.00558
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891 0.00486
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_001384140.1(PCDH15):c.3502-19T>C rs199978794 0.00440
NM_001384140.1(PCDH15):c.4671+1087C>T rs12359240 0.00438
NM_001384140.1(PCDH15):c.1590+15A>G rs565203752 0.00428
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001384140.1(PCDH15):c.3717+8G>C rs200556301 0.00305
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=) rs61735479 0.00267
NM_001384140.1(PCDH15):c.4672-1640A>G rs145178582 0.00232
NM_001384140.1(PCDH15):c.4672-1699G>A rs7090408 0.00227
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_001384140.1(PCDH15):c.1181A>G (p.Tyr394Cys) rs148533341 0.00219
NM_001384140.1(PCDH15):c.343G>A (p.Val115Met) rs143570915 0.00209
NM_033056.4(PCDH15):c.4733T>C (p.Val1578Ala) rs139915181 0.00169
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647 0.00134
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738 0.00121
NM_001384140.1(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859 0.00100
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001384140.1(PCDH15):c.1653G>A (p.Gly551=) rs141281651 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_001384140.1(PCDH15):c.3877C>A (p.Arg1293=) rs142034111 0.00064
NM_001384140.1(PCDH15):c.4671+1440C>T rs183631592 0.00064
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_001384140.1(PCDH15):c.1028G>A (p.Arg343Lys) rs141169746 0.00054
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_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_001384140.1(PCDH15):c.1256A>G (p.Asn419Ser) rs143827620 0.00048
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.2513T>C (p.Ile838Thr) rs201657445 0.00046
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00045
NM_001384140.1(PCDH15):c.942A>G (p.Gln314=) rs149481989 0.00043
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001384140.1(PCDH15):c.913C>G (p.Gln305Glu) rs143058902 0.00037
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.3374-16G>A rs139684809 0.00036
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
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.3724G>A (p.Val1242Met) rs201137087 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.2223A>G (p.Ala741=) rs201332784 0.00021
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.2751+14A>G rs370250540 0.00020
NM_001384140.1(PCDH15):c.3122+17G>A rs369096183 0.00020
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro) rs140516168 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350 0.00018
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser) rs189284385 0.00016
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=) rs146374856 0.00016
NM_001384140.1(PCDH15):c.4103A>G (p.Glu1368Gly) rs111033449 0.00016
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812 0.00016
NM_001384140.1(PCDH15):c.1441-20G>A rs368774419 0.00014
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_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=) rs138177808 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.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_033056.4(PCDH15):c.4788T>G (p.Asp1596Glu) rs200659780 0.00013
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu) rs56332160 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=) rs200796871 0.00011
NM_001384140.1(PCDH15):c.4671+1643G>A rs190515330 0.00011
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=) rs140893140 0.00010
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val) rs369029215 0.00010
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 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.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384140.1(PCDH15):c.2751+9T>C rs180804907 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.4611A>T (p.Ser1537=) rs142387128 0.00009
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys) rs567843031 0.00009
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384 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.2325G>A (p.Val775=) rs200792575 0.00008
NM_001384140.1(PCDH15):c.3010-18T>C rs377437264 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.4317G>A (p.Pro1439=) rs370470900 0.00008
NM_001384140.1(PCDH15):c.1306-4122G>A rs370242062 0.00007
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384140.1(PCDH15):c.1917+12_1917+13dup rs770365128 0.00007
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=) rs770371293 0.00007
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp) rs573831072 0.00007
NM_001384140.1(PCDH15):c.2262C>T (p.Tyr754=) rs373539084 0.00007
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=) rs772650866 0.00007
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721 0.00007
NM_001384140.1(PCDH15):c.1306-4116G>A rs200299853 0.00006
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.1912C>T (p.Leu638=) rs763230126 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.3010-12T>C rs373410101 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.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=) rs139873638 0.00006
NM_001384140.1(PCDH15):c.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898 0.00006
NM_001384140.1(PCDH15):c.4367+11C>T rs374786323 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_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.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_033056.4(PCDH15):c.5043G>A (p.Val1681=) rs534821008 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_033056.4(PCDH15):c.5589A>G (p.Thr1863=) rs572643730 0.00006
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=) rs200170358 0.00005
NM_001384140.1(PCDH15):c.1479C>A (p.Val493=) rs371406605 0.00005
NM_001384140.1(PCDH15):c.2014T>C (p.Leu672=) rs772452288 0.00005
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=) rs746162109 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.3405G>A (p.Gln1135=) rs202206172 0.00005
NM_001384140.1(PCDH15):c.3483T>C (p.Thr1161=) rs772300262 0.00005
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys) rs781603185 0.00005
NM_001384140.1(PCDH15):c.4263G>T (p.Ala1421=) rs372661520 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.1032A>G (p.Thr344=) rs376067863 0.00004
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 0.00004
NM_001384140.1(PCDH15):c.1152A>G (p.Glu384=) rs770060277 0.00004
NM_001384140.1(PCDH15):c.1208A>G (p.Tyr403Cys) rs767558664 0.00004
NM_001384140.1(PCDH15):c.1602C>G (p.Val534=) rs201215741 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.2811G>A (p.Pro937=) rs1449039709 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.3717+10T>C rs376158566 0.00004
NM_001384140.1(PCDH15):c.3822T>C (p.Tyr1274=) rs148548987 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.4272A>G (p.Pro1424=) rs759109238 0.00004
NM_001384140.1(PCDH15):c.4329A>C (p.Pro1443=) rs369289143 0.00004
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg) rs550282961 0.00004
NM_001384140.1(PCDH15):c.4589G>A (p.Arg1530His) rs368380451 0.00004
NM_001384140.1(PCDH15):c.4672-1577C>T rs373275867 0.00004
NM_001384140.1(PCDH15):c.477C>T (p.Leu159=) rs748202818 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.903G>A (p.Thr301=) rs189227500 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_001384140.1(PCDH15):c.948A>G (p.Pro316=) rs773198164 0.00004
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His) rs747921916 0.00004
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416 0.00004
NM_033056.4(PCDH15):c.4599_4600dup (p.Ser1534fs) rs1436725375 0.00004
NM_033056.4(PCDH15):c.4644_4689dup (p.Arg1564delinsCysArgProIlePheThrGlnAsnThrSerGlnGluTer) rs751539473 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.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=) rs61862392 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_033056.4(PCDH15):c.5853A>G (p.Gln1951=) rs370042818 0.00004
NM_001384140.1(PCDH15):c.1099-18T>C rs780316497 0.00003
NM_001384140.1(PCDH15):c.1230G>C (p.Val410=) rs145217188 0.00003
NM_001384140.1(PCDH15):c.1305+14A>G rs369153684 0.00003
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.1434C>T (p.Thr478=) rs745759131 0.00003
NM_001384140.1(PCDH15):c.1518G>A (p.Thr506=) rs141416774 0.00003
NM_001384140.1(PCDH15):c.1918-20A>G rs373117834 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.2091+17dup rs759943776 0.00003
NM_001384140.1(PCDH15):c.2200G>A (p.Ala734Thr) rs781579614 0.00003
NM_001384140.1(PCDH15):c.2268G>A (p.Leu756=) rs143662833 0.00003
NM_001384140.1(PCDH15):c.2379T>C (p.Asp793=) rs148920891 0.00003
NM_001384140.1(PCDH15):c.2538C>T (p.Val846=) rs727504573 0.00003
NM_001384140.1(PCDH15):c.2799G>C (p.Gly933=) rs139853291 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.3666T>G (p.Val1222=) rs762138321 0.00003
NM_001384140.1(PCDH15):c.3708C>T (p.Ala1236=) rs374185988 0.00003
NM_001384140.1(PCDH15):c.4029G>A (p.Pro1343=) rs533989966 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.4211+11T>A rs751800504 0.00003
NM_001384140.1(PCDH15):c.4302G>A (p.Ala1434=) rs368622542 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.4368-3147T>C rs376178615 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.678T>C (p.Thr226=) rs759127233 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_001384140.1(PCDH15):c.945G>T (p.Pro315=) rs150450873 0.00003
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=) rs994026891 0.00003
NM_001384140.1(PCDH15):c.986-11A>G rs374641355 0.00003
NM_033056.4(PCDH15):c.4413A>T (p.Ser1471=) rs1392907899 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_033056.4(PCDH15):c.4497C>T (p.Asp1499=) rs376485360 0.00003
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186 0.00003
NM_033056.4(PCDH15):c.4911G>A (p.Glu1637=) rs972342055 0.00003
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 0.00003
NM_033056.4(PCDH15):c.5169T>C (p.Pro1723=) rs982576655 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.5283T>A (p.Ala1761=) rs375134176 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.1026T>G (p.Pro342=) rs1209298999 0.00002
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.1239C>T (p.Thr413=) rs768703592 0.00002
NM_001384140.1(PCDH15):c.1245G>A (p.Ser415=) rs775789634 0.00002
NM_001384140.1(PCDH15):c.1272A>G (p.Leu424=) rs1027213784 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.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.1650T>C (p.Val550=) rs145254610 0.00002
NM_001384140.1(PCDH15):c.1709G>C (p.Gly570Ala) rs769261753 0.00002
NM_001384140.1(PCDH15):c.1725C>T (p.Val575=) rs748995667 0.00002
NM_001384140.1(PCDH15):c.1797C>T (p.Cys599=) rs1022105558 0.00002
NM_001384140.1(PCDH15):c.1918-6C>T rs776285978 0.00002
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=) rs754253198 0.00002
NM_001384140.1(PCDH15):c.2118G>A (p.Val706=) rs765329284 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.2658A>C (p.Pro886=) rs753486321 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.2736C>A (p.Val912=) rs755755292 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.2768C>T (p.Pro923Leu) rs191577774 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 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.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.348G>T (p.Val116=) rs751464731 0.00002
NM_001384140.1(PCDH15):c.3502-14_3502-13insTC rs1554836604 0.00002
NM_001384140.1(PCDH15):c.3633T>C (p.His1211=) rs570485008 0.00002
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=) rs1317246200 0.00002
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser) rs143149062 0.00002
NM_001384140.1(PCDH15):c.3806+19T>C rs769403997 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.3888T>C (p.Asp1296=) rs765713345 0.00002
NM_001384140.1(PCDH15):c.3966T>C (p.Asp1322=) rs754979091 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.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_001384140.1(PCDH15):c.4203-9C>A rs746654002 0.00002
NM_001384140.1(PCDH15):c.4254A>G (p.Ala1418=) rs764548141 0.00002
NM_001384140.1(PCDH15):c.4303C>A (p.Pro1435Thr) rs766039931 0.00002
NM_001384140.1(PCDH15):c.4332T>C (p.Gly1444=) rs774607785 0.00002
NM_001384140.1(PCDH15):c.4671+1327T>C rs751344048 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.684C>T (p.Tyr228=) rs372867091 0.00002
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr) rs775673790 0.00002
NM_001384140.1(PCDH15):c.726T>C (p.Asn242=) rs767845518 0.00002
NM_001384140.1(PCDH15):c.876+13_876+14del rs749794539 0.00002
NM_033056.4(PCDH15):c.4699_4715dup (p.Leu1573fs) rs763882874 0.00002
NM_033056.4(PCDH15):c.4717C>G (p.Leu1573Val) rs202010562 0.00002
NM_033056.4(PCDH15):c.4734C>T (p.Val1578=) rs757171617 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033056.4(PCDH15):c.5004C>T (p.His1668=) rs761142606 0.00002
NM_033056.4(PCDH15):c.5112G>A (p.Arg1704=) rs982138826 0.00002
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=) rs760796538 0.00002
NM_033056.4(PCDH15):c.5490T>C (p.Pro1830=) rs775902052 0.00002
NM_033056.4(PCDH15):c.5618C>G (p.Thr1873Arg) rs754865702 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.5709A>G (p.Ile1903Met) rs747899393 0.00002
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly) rs2076301014 0.00002
NM_033056.4(PCDH15):c.5823C>T (p.Val1941=) rs768223980 0.00002
NM_033056.4(PCDH15):c.5862A>G (p.Ser1954=) rs755165199 0.00002
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
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.1086T>C (p.Asp362=) rs1436469517 0.00001
NM_001384140.1(PCDH15):c.1108G>A (p.Asp370Asn) rs1482209592 0.00001
NM_001384140.1(PCDH15):c.1116T>G (p.Gly372=) rs764072223 0.00001
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.1137C>T (p.Ala379=) rs775537342 0.00001
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg) rs758680936 0.00001
NM_001384140.1(PCDH15):c.1179A>G (p.Pro393=) rs1484114119 0.00001
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His) rs778369017 0.00001
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=) rs1427922641 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.1305+2T>A rs2049531217 0.00001
NM_001384140.1(PCDH15):c.1306-20G>A rs531081800 0.00001
NM_001384140.1(PCDH15):c.1306-4111A>C rs78392377 0.00001
NM_001384140.1(PCDH15):c.1317A>G (p.Pro439=) rs768151894 0.00001
NM_001384140.1(PCDH15):c.1320G>A (p.Glu440=) rs947826570 0.00001
NM_001384140.1(PCDH15):c.1326C>T (p.His442=) rs1178465560 0.00001
NM_001384140.1(PCDH15):c.1343A>G (p.Tyr448Cys) rs1214237090 0.00001
NM_001384140.1(PCDH15):c.1353C>G (p.Val451=) rs1207824945 0.00001
NM_001384140.1(PCDH15):c.1359C>T (p.Thr453=) rs757027490 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.1441-7C>T rs1157557398 0.00001
NM_001384140.1(PCDH15):c.1449A>C (p.Ala483=) rs1190323123 0.00001
NM_001384140.1(PCDH15):c.1469G>C (p.Ser490Thr) rs139018592 0.00001
NM_001384140.1(PCDH15):c.1506A>G (p.Ala502=) rs1471744351 0.00001
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala) rs570048496 0.00001
NM_001384140.1(PCDH15):c.1524C>G (p.Thr508=) rs778822897 0.00001
NM_001384140.1(PCDH15):c.1570C>A (p.Pro524Thr) rs751255567 0.00001
NM_001384140.1(PCDH15):c.158-8G>T rs1948836091 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1590+10C>T rs761683339 0.00001
NM_001384140.1(PCDH15):c.1596T>C (p.Thr532=) rs367850244 0.00001
NM_001384140.1(PCDH15):c.1605C>T (p.Asp535=) rs370348265 0.00001
NM_001384140.1(PCDH15):c.1611C>T (p.Asp537=) rs771243891 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.1647T>C (p.Leu549=) rs764794030 0.00001
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) rs764162624 0.00001
NM_001384140.1(PCDH15):c.1701C>T (p.Ile567=) rs773444573 0.00001
NM_001384140.1(PCDH15):c.1771C>G (p.Pro591Ala) rs1277257526 0.00001
NM_001384140.1(PCDH15):c.1773T>C (p.Pro591=) rs1178375441 0.00001
NM_001384140.1(PCDH15):c.1780C>A (p.Arg594=) rs1252259548 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.1836C>A (p.Ser612Arg) rs200226791 0.00001
NM_001384140.1(PCDH15):c.183G>T (p.Leu61=) rs1756531469 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.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1917+12G>A rs1305592136 0.00001
NM_001384140.1(PCDH15):c.1918-15G>A rs2094574689 0.00001
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu) rs757098609 0.00001
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=) rs777099546 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2001G>C (p.Thr667=) rs200699443 0.00001
NM_001384140.1(PCDH15):c.2013C>T (p.Thr671=) rs374838856 0.00001
NM_001384140.1(PCDH15):c.2056C>T (p.Leu686=) rs779268739 0.00001
NM_001384140.1(PCDH15):c.2067A>G (p.Thr689=) rs538304958 0.00001
NM_001384140.1(PCDH15):c.206C>T (p.Pro69Leu) rs769113786 0.00001
NM_001384140.1(PCDH15):c.2091+8T>C rs752225683 0.00001
NM_001384140.1(PCDH15):c.2092-6T>C rs780684363 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.213C>T (p.Pro71=) rs747462579 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.2196C>T (p.Ala732=) rs770332994 0.00001
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=) rs201636125 0.00001
NM_001384140.1(PCDH15):c.2221-9A>T rs1338617951 0.00001
NM_001384140.1(PCDH15):c.2247T>C (p.Asn749=) rs1391947503 0.00001
NM_001384140.1(PCDH15):c.2250T>A (p.Gly750=) rs1452282788 0.00001
NM_001384140.1(PCDH15):c.2292T>C (p.Arg764=) rs1240219060 0.00001
NM_001384140.1(PCDH15):c.2316C>T (p.Tyr772=) rs756048474 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.2385A>G (p.Ala795=) rs61731362 0.00001
NM_001384140.1(PCDH15):c.2389C>T (p.His797Tyr) rs1333595432 0.00001
NM_001384140.1(PCDH15):c.2391C>T (p.His797=) rs748017277 0.00001
NM_001384140.1(PCDH15):c.2400T>C (p.His800=) rs1400103823 0.00001
NM_001384140.1(PCDH15):c.2407C>T (p.Leu803=) rs1346492808 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.2445C>T (p.Asn815=) rs768200772 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.2526+9G>A rs1415249620 0.00001
NM_001384140.1(PCDH15):c.2527-4A>T rs778122810 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.2616A>G (p.Gly872=) rs1254338106 0.00001
NM_001384140.1(PCDH15):c.261G>A (p.Met87Ile) rs1289815447 0.00001
NM_001384140.1(PCDH15):c.2622A>G (p.Leu874=) rs1419751426 0.00001
NM_001384140.1(PCDH15):c.2649G>A (p.Glu883=) rs779197038 0.00001
NM_001384140.1(PCDH15):c.2679T>G (p.Thr893=) rs1312818254 0.00001
NM_001384140.1(PCDH15):c.2685G>C (p.Leu895=) rs759471464 0.00001
NM_001384140.1(PCDH15):c.2691G>A (p.Glu897=) rs876657952 0.00001
NM_001384140.1(PCDH15):c.2696T>G (p.Phe899Cys) rs958092001 0.00001
NM_001384140.1(PCDH15):c.2709A>G (p.Gly903=) rs886047064 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.27A>G (p.Thr9=) rs1178626838 0.00001
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu) rs771024131 0.00001
NM_001384140.1(PCDH15):c.2817A>C (p.Ala939=) rs763397647 0.00001
NM_001384140.1(PCDH15):c.2833A>G (p.Ile945Val) rs773566320 0.00001
NM_001384140.1(PCDH15):c.2856T>C (p.Asp952=) rs187811627 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.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_001384140.1(PCDH15):c.2979T>C (p.Asn993=) rs1244022175 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.3010-15T>G rs777943892 0.00001
NM_001384140.1(PCDH15):c.3010-19A>G rs1377927467 0.00001
NM_001384140.1(PCDH15):c.3010-7T>C rs781753578 0.00001
NM_001384140.1(PCDH15):c.3042T>C (p.Pro1014=) rs775306686 0.00001
NM_001384140.1(PCDH15):c.3069G>A (p.Lys1023=) rs769983940 0.00001
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys) rs780335938 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.319-18G>A rs761263266 0.00001
NM_001384140.1(PCDH15):c.3228A>G (p.Glu1076=) rs1437741307 0.00001
NM_001384140.1(PCDH15):c.324G>A (p.Pro108=) rs778801885 0.00001
NM_001384140.1(PCDH15):c.3252C>T (p.Asn1084=) rs995360945 0.00001
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=) rs772160626 0.00001
NM_001384140.1(PCDH15):c.3297C>T (p.Thr1099=) rs749666237 0.00001
NM_001384140.1(PCDH15):c.3309T>C (p.Tyr1103=) rs769295133 0.00001
NM_001384140.1(PCDH15):c.3321C>G (p.Val1107=) rs371025094 0.00001
NM_001384140.1(PCDH15):c.3324A>G (p.Gln1108=) rs377530500 0.00001
NM_001384140.1(PCDH15):c.3339A>G (p.Glu1113=) rs2085802583 0.00001
NM_001384140.1(PCDH15):c.3353A>G (p.Asn1118Ser) rs544044508 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.3373+1G>A rs2085799827 0.00001
NM_001384140.1(PCDH15):c.3373+8A>T rs2085798721 0.00001
NM_001384140.1(PCDH15):c.3373+9T>C rs747731752 0.00001
NM_001384140.1(PCDH15):c.3374-19A>G rs1459198722 0.00001
NM_001384140.1(PCDH15):c.3374-7C>T rs377480411 0.00001
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr) rs200748221 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=) rs876657562 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.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.3501+20T>C rs762512156 0.00001
NM_001384140.1(PCDH15):c.3501+7G>T rs756402556 0.00001
NM_001384140.1(PCDH15):c.3502-14T>C rs575971829 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.3528T>C (p.Tyr1176=) rs371200381 0.00001
NM_001384140.1(PCDH15):c.3627C>T (p.Leu1209=) rs1400536456 0.00001
NM_001384140.1(PCDH15):c.3654C>T (p.Phe1218=) rs1439589955 0.00001
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) rs763978654 0.00001
NM_001384140.1(PCDH15):c.3657G>A (p.Lys1219=) rs1240620059 0.00001
NM_001384140.1(PCDH15):c.3678C>T (p.Asp1226=) rs769900736 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.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3718-10C>T rs919380715 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.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3840T>C (p.Pro1280=) rs1304146421 0.00001
NM_001384140.1(PCDH15):c.3900A>G (p.Leu1300=) rs1431942619 0.00001
NM_001384140.1(PCDH15):c.3927T>C (p.Thr1309=) rs1165789834 0.00001
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys) rs752031456 0.00001
NM_001384140.1(PCDH15):c.3933T>C (p.Tyr1311=) rs141008938 0.00001
NM_001384140.1(PCDH15):c.393T>C (p.His131=) rs1490765892 0.00001
NM_001384140.1(PCDH15):c.3963C>T (p.Ile1321=) rs781522540 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.3983+9T>C rs982615149 0.00001
NM_001384140.1(PCDH15):c.3984-7A>T rs780118478 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.402A>G (p.Arg134=) rs368763164 0.00001
NM_001384140.1(PCDH15):c.4077A>G (p.Ala1359=) rs140813069 0.00001
NM_001384140.1(PCDH15):c.4096A>G (p.Arg1366Gly) rs745985513 0.00001
NM_001384140.1(PCDH15):c.4158C>G (p.Leu1386=) rs1253422113 0.00001
NM_001384140.1(PCDH15):c.4161C>T (p.Cys1387=) rs1285582987 0.00001
NM_001384140.1(PCDH15):c.4177T>C (p.Leu1393=) rs1464924888 0.00001
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg) rs376146659 0.00001
NM_001384140.1(PCDH15):c.4202+10C>T rs957748149 0.00001
NM_001384140.1(PCDH15):c.4202+13G>C rs1443233585 0.00001
NM_001384140.1(PCDH15):c.4202+3A>G rs1564563130 0.00001
NM_001384140.1(PCDH15):c.4203-7C>T rs1209357687 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.4240C>T (p.Arg1414Ter) rs1421575182 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.4260C>T (p.Pro1420=) rs775658931 0.00001
NM_001384140.1(PCDH15):c.4275A>T (p.Ala1425=) rs774100942 0.00001
NM_001384140.1(PCDH15):c.4290A>T (p.Ala1430=) rs1472367791 0.00001
NM_001384140.1(PCDH15):c.429C>T (p.Asn143=) rs772672479 0.00001
NM_001384140.1(PCDH15):c.4301C>T (p.Ala1434Val) rs572629527 0.00001
NM_001384140.1(PCDH15):c.4335G>A (p.Ala1445=) rs570557379 0.00001
NM_001384140.1(PCDH15):c.4360A>G (p.Ser1454Gly) rs144616228 0.00001
NM_001384140.1(PCDH15):c.4367+8G>A rs727504745 0.00001
NM_001384140.1(PCDH15):c.4368-2238_4368-2227del rs746591991 0.00001
NM_001384140.1(PCDH15):c.4368-3135T>C rs1252455330 0.00001
NM_001384140.1(PCDH15):c.4368-3136C>G rs1280849622 0.00001
NM_001384140.1(PCDH15):c.4368-3138T>G rs1270575255 0.00001
NM_001384140.1(PCDH15):c.4671+1192C>T rs935682630 0.00001
NM_001384140.1(PCDH15):c.4671+1624G>A rs1285905443 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.556C>T (p.Gln186Ter) rs1384677442 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.636A>G (p.Gly212=) rs1414757654 0.00001
NM_001384140.1(PCDH15):c.675G>A (p.Lys225=) rs1403705158 0.00001
NM_001384140.1(PCDH15):c.714C>G (p.Ala238=) rs1366085441 0.00001
NM_001384140.1(PCDH15):c.73T>C (p.Leu25=) rs749697716 0.00001
NM_001384140.1(PCDH15):c.783G>A (p.Leu261=) rs757883412 0.00001
NM_001384140.1(PCDH15):c.789A>G (p.Pro263=) rs1221887715 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384140.1(PCDH15):c.814C>G (p.Pro272Ala) rs1380529068 0.00001
NM_001384140.1(PCDH15):c.816A>G (p.Pro272=) rs1351980562 0.00001
NM_001384140.1(PCDH15):c.832C>T (p.Arg278Cys) rs767577700 0.00001
NM_001384140.1(PCDH15):c.876+10C>T rs778754722 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_001384140.1(PCDH15):c.978C>T (p.Ile326=) rs563269633 0.00001
NM_001384140.1(PCDH15):c.985+6dup rs777491892 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.4403_4418dup (p.Ser1473_Glu1474insLysTer) rs1326692199 0.00001
NM_033056.4(PCDH15):c.4431A>G (p.Lys1477=) rs756871318 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.4509G>A (p.Lys1503=) rs905422262 0.00001
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=) rs200141161 0.00001
NM_033056.4(PCDH15):c.4533_4554dup (p.Glu1519delinsLysIleHisIleSerIleTer) rs746017823 0.00001
NM_033056.4(PCDH15):c.4592_4627dup (p.Ser1543Ter) rs1442366836 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070 0.00001
NM_033056.4(PCDH15):c.4632G>A (p.Gln1544=) rs2076412292 0.00001
NM_033056.4(PCDH15):c.4666A>G (p.Ile1556Val) rs922438301 0.00001
NM_033056.4(PCDH15):c.4698A>G (p.Pro1566=) rs747777278 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 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.4770T>C (p.Asn1590=) rs372095792 0.00001
NM_033056.4(PCDH15):c.4797G>A (p.Gln1599=) rs563147370 0.00001
NM_033056.4(PCDH15):c.4836T>C (p.Thr1612=) rs777727173 0.00001
NM_033056.4(PCDH15):c.4845T>C (p.Cys1615=) rs1367656585 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.4893A>G (p.Ala1631=) rs776916605 0.00001
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs) rs748611625 0.00001
NM_033056.4(PCDH15):c.4968C>T (p.Leu1656=) rs750443683 0.00001
NM_033056.4(PCDH15):c.4977C>T (p.Asp1659=) rs1554820407 0.00001
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=) rs775752587 0.00001
NM_033056.4(PCDH15):c.5068A>T (p.Ile1690Phe) rs1375062684 0.00001
NM_033056.4(PCDH15):c.5115T>C (p.Pro1705=) rs2076366066 0.00001
NM_033056.4(PCDH15):c.5124_5136del (p.Leu1708fs) rs748573572 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.5253T>C (p.Pro1751=) rs1393186965 0.00001
NM_033056.4(PCDH15):c.5256T>A (p.Pro1752=) rs761798683 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.5334T>C (p.Cys1778=) rs727503362 0.00001
NM_033056.4(PCDH15):c.5367T>G (p.Pro1789=) rs770691111 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.5394T>G (p.Leu1798=) rs771831842 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.5595A>G (p.Leu1865=) rs555529578 0.00001
NM_033056.4(PCDH15):c.5604G>A (p.Thr1868=) rs747596359 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.5655C>T (p.His1885=) rs758953502 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.5748A>G (p.Gln1916=) rs753023544 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.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro) rs751586980 0.00001
NC_000010.10:g.(?_55566339)_(56288162_?)del
NC_000010.10:g.(?_55581608)_(55626627_?)del
NC_000010.10:g.(?_55581618)_(55663150_?)del
NC_000010.10:g.(?_55581618)_(56424022_?)del
NC_000010.10:g.(?_55581618)_(56424022_?)dup
NC_000010.10:g.(?_55588305)_(55588353_?)del
NC_000010.10:g.(?_55616915)_(55626637_?)del
NC_000010.10:g.(?_55616915)_(55626637_?)dup
NC_000010.10:g.(?_55616925)_(55782967_?)del
NC_000010.10:g.(?_55616925)_(55996701_?)del
NC_000010.10:g.(?_55662993)_(55663140_?)dup
NC_000010.10:g.(?_55698555)_(55698735_?)del
NC_000010.10:g.(?_55698565)_(55700745_?)del
NC_000010.10:g.(?_55755389)_(55755545_?)dup
NC_000010.10:g.(?_55755389)_(55892787_?)dup
NC_000010.10:g.(?_55755399)_(56138712_?)del
NC_000010.10:g.(?_55755399)_(56424032_?)del
NC_000010.10:g.(?_55826507)_(56106254_?)del
NC_000010.10:g.(?_55826507)_(56424032_?)del
NC_000010.10:g.(?_55849724)_(55849843_?)del
NC_000010.10:g.(?_55849734)_(55849833_?)del
NC_000010.10:g.(?_55849734)_(55996701_?)dup
NC_000010.10:g.(?_55849744)_(55955649_?)del
NC_000010.10:g.(?_55892625)_(55892777_?)del
NC_000010.10:g.(?_55892683)_(55893842_?)del
NC_000010.10:g.(?_55912840)_(55913073_?)dup
NC_000010.10:g.(?_55912850)_(55935851_?)dup
NC_000010.10:g.(?_55912850)_(56138712_?)del
NC_000010.10:g.(?_55943194)_(55996701_?)del
NC_000010.10:g.(?_55955423)_(55955669_?)del
NC_000010.10:g.(?_55955423)_(55955669_?)dup
NC_000010.10:g.(?_55973686)_(55973818_?)del
NC_000010.10:g.(?_55996563)_(56089486_?)del
NC_000010.10:g.(?_56077021)_(56138712_?)dup
NC_000010.10:g.(?_56077031)_(56106244_?)del
NC_000010.10:g.(?_56106115)_(56106254_?)del
NC_000010.10:g.(?_56287562)_(56288172_?)del
NC_000010.10:g.(?_56423912)_(56424022_?)dup
NC_000010.11:g.(?_53806569)_(54528412_?)del
NC_000010.11:g.(?_53806569)_(54664272_?)del
NC_000010.11:g.(?_53806579)_(54664262_?)del
NC_000010.11:g.(?_53903233)_(53903380_?)del
NC_000010.11:g.(?_53903233)_(54664272_?)del
NC_000010.11:g.(?_53938805)_(54664272_?)del
NC_000010.11:g.(?_54066757)_(54090063_?)dup
NC_000010.11:g.(?_54183434)_(54189394_?)del
NC_000010.11:g.(?_54346355)_(54378952_?)dup
NC_000010.11:g.(?_54369110)_(54378952_?)dup
NC_000010.11:g.(?_54369120)_(54378942_?)del
NC_000010.11:g.(?_54527802)_(54664272_?)del
NC_000010.11:g.53831308TACT[3]
NC_000010.11:g.53840315CTTA[3]
NM_001384140.1(PCDH15):c.1001dup (p.Tyr334Ter)
NM_001384140.1(PCDH15):c.1002C>T (p.Tyr334=)
NM_001384140.1(PCDH15):c.1006C>A (p.Arg336=)
NM_001384140.1(PCDH15):c.1008A>G (p.Arg336=)
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.1047C>A (p.Leu349=)
NM_001384140.1(PCDH15):c.1047C>G (p.Leu349=)
NM_001384140.1(PCDH15):c.1050G>A (p.Leu350=)
NM_001384140.1(PCDH15):c.1056A>G (p.Pro352=)
NM_001384140.1(PCDH15):c.1059A>G (p.Val353=)
NM_001384140.1(PCDH15):c.1067A>T (p.Asp356Val) rs2051721465
NM_001384140.1(PCDH15):c.1068C>T (p.Asp356=)
NM_001384140.1(PCDH15):c.1074C>G (p.His358Gln) rs2134107295
NM_001384140.1(PCDH15):c.1074C>T (p.His358=)
NM_001384140.1(PCDH15):c.1075C>T (p.Gln359Ter) rs2051720336
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.1087T>C (p.Leu363=)
NM_001384140.1(PCDH15):c.1088del (p.Leu363fs) rs199469706
NM_001384140.1(PCDH15):c.1095T>C (p.Ile365=) rs2051718818
NM_001384140.1(PCDH15):c.1098+13A>T
NM_001384140.1(PCDH15):c.1098+18C>T
NM_001384140.1(PCDH15):c.1098+7T>C
NM_001384140.1(PCDH15):c.1099-10T>A rs2133925934
NM_001384140.1(PCDH15):c.1099-10dup
NM_001384140.1(PCDH15):c.1099-11_1099-10del rs2133925954
NM_001384140.1(PCDH15):c.1099-14C>T
NM_001384140.1(PCDH15):c.1099-15T>C
NM_001384140.1(PCDH15):c.1099-16T>C
NM_001384140.1(PCDH15):c.1099-19C>A rs771313944
NM_001384140.1(PCDH15):c.1099-19C>G rs771313944
NM_001384140.1(PCDH15):c.1099-19C>T
NM_001384140.1(PCDH15):c.1099-20del
NM_001384140.1(PCDH15):c.1099-23TTTTC[2] rs757918163
NM_001384140.1(PCDH15):c.1099-5T>G
NM_001384140.1(PCDH15):c.10C>T (p.Gln4Ter)
NM_001384140.1(PCDH15):c.1101T>C (p.Ala367=)
NM_001384140.1(PCDH15):c.1103A>G (p.Glu368Gly)
NM_001384140.1(PCDH15):c.1134T>G (p.Phe378Leu)
NM_001384140.1(PCDH15):c.1136C>T (p.Ala379Val) rs2049565591
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=) rs1315291067
NM_001384140.1(PCDH15):c.1145A>G (p.His382Arg)
NM_001384140.1(PCDH15):c.1146C>T (p.His382=) rs773302482
NM_001384140.1(PCDH15):c.1147A>G (p.Ile383Val)
NM_001384140.1(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_001384140.1(PCDH15):c.1170T>C (p.Asn390=) rs1329583537
NM_001384140.1(PCDH15):c.1175del (p.Ser392fs) rs2133924837
NM_001384140.1(PCDH15):c.1182T>C (p.Tyr394=) rs2133924711
NM_001384140.1(PCDH15):c.1194del (p.Ser399fs)
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg) rs199786639
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1201C>T (p.Gln401Ter)
NM_001384140.1(PCDH15):c.1204G>A (p.Gly402Ser)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1215G>A (p.Leu405=)
NM_001384140.1(PCDH15):c.1218A>G (p.Glu406=) rs1391412746
NM_001384140.1(PCDH15):c.1224C>T (p.Ala408=)
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.1275A>G (p.Arg425=)
NM_001384140.1(PCDH15):c.1281A>C (p.Val427=)
NM_001384140.1(PCDH15):c.1281A>G (p.Val427=)
NM_001384140.1(PCDH15):c.1284T>G (p.Ala428=)
NM_001384140.1(PCDH15):c.1287G>A (p.Leu429=)
NM_001384140.1(PCDH15):c.1290C>T (p.Asp430=)
NM_001384140.1(PCDH15):c.12G>A (p.Gln4=)
NM_001384140.1(PCDH15):c.1302A>C (p.Glu434Asp)
NM_001384140.1(PCDH15):c.1304_1305delinsCC (p.Asp435Ala) rs2133923367
NM_001384140.1(PCDH15):c.1305+11T>C
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.1305+2T>G rs2049531217
NM_001384140.1(PCDH15):c.1305+3_1305+6dup
NM_001384140.1(PCDH15):c.1306-11T>C
NM_001384140.1(PCDH15):c.1306-11T>G
NM_001384140.1(PCDH15):c.1306-13T>C rs1301789219
NM_001384140.1(PCDH15):c.1306-14A>T
NM_001384140.1(PCDH15):c.1306-14del
NM_001384140.1(PCDH15):c.1306-1G>C rs1299990309
NM_001384140.1(PCDH15):c.1306-1G>T rs1299990309
NM_001384140.1(PCDH15):c.1306-2A>G
NM_001384140.1(PCDH15):c.1306-3A>G rs2133818771
NM_001384140.1(PCDH15):c.1306-4110C>T rs749675729
NM_001384140.1(PCDH15):c.1306-6del
NM_001384140.1(PCDH15):c.1306-6dup rs750120473
NM_001384140.1(PCDH15):c.1306-8T>G rs1351277416
NM_001384140.1(PCDH15):c.1306-9T>C
NM_001384140.1(PCDH15):c.1313del (p.Asp438fs) rs2133818635
NM_001384140.1(PCDH15):c.1314C>T (p.Asp438=) rs2048386407
NM_001384140.1(PCDH15):c.1338T>A (p.Asn446Lys)
NM_001384140.1(PCDH15):c.1338T>C (p.Asn446=) rs1461685230
NM_001384140.1(PCDH15):c.1343_1350del (p.Tyr448fs) rs2048383082
NM_001384140.1(PCDH15):c.1344C>T (p.Tyr448=) rs2133818301
NM_001384140.1(PCDH15):c.1347C>T (p.Thr449=) rs778642329
NM_001384140.1(PCDH15):c.1353C>A (p.Val451=)
NM_001384140.1(PCDH15):c.1357_1358del (p.Thr453fs) rs2133818115
NM_001384140.1(PCDH15):c.1365A>G (p.Thr455=) rs143772634
NM_001384140.1(PCDH15):c.1368G>A (p.Gln456=) rs1362893430
NM_001384140.1(PCDH15):c.1379C>T (p.Thr460Ile) rs773884678
NM_001384140.1(PCDH15):c.1381C>T (p.Arg461Cys)
NM_001384140.1(PCDH15):c.1387_1396del (p.Leu463fs)
NM_001384140.1(PCDH15):c.1392C>T (p.Thr464=)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1404A>G (p.Pro468=) rs2133817644
NM_001384140.1(PCDH15):c.1406T>C (p.Val469Ala)
NM_001384140.1(PCDH15):c.1416A>G (p.Glu472=) rs2133817550
NM_001384140.1(PCDH15):c.1420C>G (p.Gln474Glu)
NM_001384140.1(PCDH15):c.1422G>A (p.Gln474=)
NM_001384140.1(PCDH15):c.1425A>G (p.Gln475=) rs2133817445
NM_001384140.1(PCDH15):c.1428T>G (p.Thr476=)
NM_001384140.1(PCDH15):c.1440+13T>G
NM_001384140.1(PCDH15):c.1440+14G>A
NM_001384140.1(PCDH15):c.1440+14G>C
NM_001384140.1(PCDH15):c.1440+17T>C
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1440+8G>A rs991079651
NM_001384140.1(PCDH15):c.1440G>A (p.Ser480=)
NM_001384140.1(PCDH15):c.1441-10C>T
NM_001384140.1(PCDH15):c.1441-11T>C
NM_001384140.1(PCDH15):c.1441-12C>G
NM_001384140.1(PCDH15):c.1441-13T>C
NM_001384140.1(PCDH15):c.1441-17T>G
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1441-8T>C
NM_001384140.1(PCDH15):c.1441-9C>T
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr) rs1564625358
NM_001384140.1(PCDH15):c.1446A>T (p.Thr482=)
NM_001384140.1(PCDH15):c.1449A>T (p.Ala483=) rs1190323123
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu) rs565753445
NM_001384140.1(PCDH15):c.1458T>A (p.Gly486=) rs894911417
NM_001384140.1(PCDH15):c.1461A>G (p.Val487=)
NM_001384140.1(PCDH15):c.1462C>T (p.Gln488Ter) rs2133801342
NM_001384140.1(PCDH15):c.1470T>C (p.Ser490=)
NM_001384140.1(PCDH15):c.1471G>A (p.Glu491Lys)
NM_001384140.1(PCDH15):c.1473G>A (p.Glu491=) rs1033868869
NM_001384140.1(PCDH15):c.1475dup (p.Val493fs) rs1591019480
NM_001384140.1(PCDH15):c.1482C>T (p.Ile494=) rs1402828073
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.1515C>T (p.Asn505=) rs1445354219
NM_001384140.1(PCDH15):c.1518G>C (p.Thr506=) rs141416774
NM_001384140.1(PCDH15):c.1518G>T (p.Thr506=) rs141416774
NM_001384140.1(PCDH15):c.1519C>G (p.Pro507Ala)
NM_001384140.1(PCDH15):c.1521A>G (p.Pro507=) rs1209765760
NM_001384140.1(PCDH15):c.1527C>A (p.Phe509Leu) rs2048201312
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) rs767847479
NM_001384140.1(PCDH15):c.1533A>G (p.Glu511=) rs2133800421
NM_001384140.1(PCDH15):c.1539C>T (p.Ser513=)
NM_001384140.1(PCDH15):c.1541A>G (p.Tyr514Cys)
NM_001384140.1(PCDH15):c.1542T>C (p.Tyr514=)
NM_001384140.1(PCDH15):c.1545T>C (p.Asp515=) rs2133800266
NM_001384140.1(PCDH15):c.1546G>A (p.Val516Met)
NM_001384140.1(PCDH15):c.1551T>C (p.Tyr517=)
NM_001384140.1(PCDH15):c.1557T>C (p.Tyr519=) rs767134941
NM_001384140.1(PCDH15):c.1559C>T (p.Thr520Ile) rs2133800068
NM_001384140.1(PCDH15):c.1560A>G (p.Thr520=) rs1246834006
NM_001384140.1(PCDH15):c.1561_1580delinsTAAAAGTGTTCCTGTTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGTCATGGCCATCAGAGAAATGCAAATCAAAACATA (p.Asp521_Ser527delinsTer)
NM_001384140.1(PCDH15):c.1571C>G (p.Pro524Arg)
NM_001384140.1(PCDH15):c.1575G>C (p.Gly525=) rs2048195293
NM_001384140.1(PCDH15):c.1576del (p.Asp526fs)
NM_001384140.1(PCDH15):c.158-10T>G rs2135028305
NM_001384140.1(PCDH15):c.158-13C>T
NM_001384140.1(PCDH15):c.158-14T>C
NM_001384140.1(PCDH15):c.158-15T>C
NM_001384140.1(PCDH15):c.158-1G>T
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.158-4G>T
NM_001384140.1(PCDH15):c.158-8G>C
NM_001384140.1(PCDH15):c.158-9G>A rs2135028247
NM_001384140.1(PCDH15):c.158-9G>C rs2135028247
NM_001384140.1(PCDH15):c.158-9G>T
NM_001384140.1(PCDH15):c.1590+12C>T
NM_001384140.1(PCDH15):c.1590+17_1590+21del rs202125339
NM_001384140.1(PCDH15):c.1590+1G>A rs2133799697
NM_001384140.1(PCDH15):c.1590+20A>C rs7093302
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.1590+8C>G
NM_001384140.1(PCDH15):c.1591-10dup rs2044743282
NM_001384140.1(PCDH15):c.1591-11T>C
NM_001384140.1(PCDH15):c.1591-14A>C
NM_001384140.1(PCDH15):c.1591-16T>C
NM_001384140.1(PCDH15):c.1591-19T>C
NM_001384140.1(PCDH15):c.1593C>T (p.Leu531=)
NM_001384140.1(PCDH15):c.1602C>T (p.Val534=) rs201215741
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.1614A>G (p.Glu538=)
NM_001384140.1(PCDH15):c.1615G>A (p.Gly539Arg) rs773321787
NM_001384140.1(PCDH15):c.1617G>A (p.Gly539=)
NM_001384140.1(PCDH15):c.1623T>C (p.Asn541=)
NM_001384140.1(PCDH15):c.1625G>C (p.Gly542Ala)
NM_001384140.1(PCDH15):c.1626G>A (p.Gly542=)
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1629G>A (p.Glu543=) rs2133339416
NM_001384140.1(PCDH15):c.162A>G (p.Thr54=)
NM_001384140.1(PCDH15):c.1630dup (p.Ile544fs)
NM_001384140.1(PCDH15):c.1635A>G (p.Thr545=)
NM_001384140.1(PCDH15):c.1639G>T (p.Glu547Ter)
NM_001384140.1(PCDH15):c.1644C>T (p.Ile548=)
NM_001384140.1(PCDH15):c.1655C>T (p.Ala552Val) rs1004800410
NM_001384140.1(PCDH15):c.1656T>A (p.Ala552=)
NM_001384140.1(PCDH15):c.1664A>C (p.Asp555Ala)
NM_001384140.1(PCDH15):c.1665C>T (p.Asp555=)
NM_001384140.1(PCDH15):c.1671C>T (p.Ile557=)
NM_001384140.1(PCDH15):c.1683A>G (p.Thr561=) rs2133338631
NM_001384140.1(PCDH15):c.1684A>G (p.Thr562Ala) rs2133338613
NM_001384140.1(PCDH15):c.1686A>G (p.Thr562=)
NM_001384140.1(PCDH15):c.1689G>A (p.Gly563=)
NM_001384140.1(PCDH15):c.168G>A (p.Leu56=)
NM_001384140.1(PCDH15):c.168G>T (p.Leu56=) rs2135027373
NM_001384140.1(PCDH15):c.1692T>C (p.Leu564=) rs2133338491
NM_001384140.1(PCDH15):c.1695C>T (p.Ile565=) rs1404017386
NM_001384140.1(PCDH15):c.1698C>T (p.Thr566=)
NM_001384140.1(PCDH15):c.1704T>C (p.Ala568=)
NM_001384140.1(PCDH15):c.1709_1719del (p.Gly570fs) rs2044717037
NM_001384140.1(PCDH15):c.1710G>T (p.Gly570=)
NM_001384140.1(PCDH15):c.1711G>A (p.Val571Met)
NM_001384140.1(PCDH15):c.1713G>A (p.Val571=) rs2044717640
NM_001384140.1(PCDH15):c.1717del (p.Glu572_Met573insTer)
NM_001384140.1(PCDH15):c.1722A>C (p.Ile574=)
NM_001384140.1(PCDH15):c.1725C>A (p.Val575=) rs748995667
NM_001384140.1(PCDH15):c.1725C>G (p.Val575=)
NM_001384140.1(PCDH15):c.1728del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1729C>A (p.Arg577=)
NM_001384140.1(PCDH15):c.1730G>T (p.Arg577Leu)
NM_001384140.1(PCDH15):c.1731G>A (p.Arg577=) rs2044713955
NM_001384140.1(PCDH15):c.1734T>A (p.Thr578=) rs2044713197
NM_001384140.1(PCDH15):c.1735T>G (p.Tyr579Asp)
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter) rs1264383341
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1737C>T (p.Tyr579=) rs1057517251
NM_001384140.1(PCDH15):c.1744A>G (p.Thr582Ala)
NM_001384140.1(PCDH15):c.1744dup (p.Thr582fs)
NM_001384140.1(PCDH15):c.1745C>A (p.Thr582Lys)
NM_001384140.1(PCDH15):c.1746G>C (p.Thr582=) rs2044710188
NM_001384140.1(PCDH15):c.1746G>T (p.Thr582=) rs2044710188
NM_001384140.1(PCDH15):c.174C>A (p.Asp58Glu) rs1169100269
NM_001384140.1(PCDH15):c.1752A>G (p.Gln584=)
NM_001384140.1(PCDH15):c.1755A>G (p.Ala585=) rs1463317132
NM_001384140.1(PCDH15):c.1758G>A (p.Ala586=)
NM_001384140.1(PCDH15):c.1758G>T (p.Ala586=) rs2044708589
NM_001384140.1(PCDH15):c.1764T>C (p.Asn588=)
NM_001384140.1(PCDH15):c.1768C>G (p.Pro590Ala)
NM_001384140.1(PCDH15):c.176A>G (p.Asn59Ser) rs1948831467
NM_001384140.1(PCDH15):c.1770T>A (p.Pro590=) rs2133336602
NM_001384140.1(PCDH15):c.1773T>G (p.Pro591=)
NM_001384140.1(PCDH15):c.1781G>T (p.Arg594Leu)
NM_001384140.1(PCDH15):c.1784+10A>G rs1259252505
NM_001384140.1(PCDH15):c.1784+11T>G rs769008985
NM_001384140.1(PCDH15):c.1784+13A>G
NM_001384140.1(PCDH15):c.1784+14G>C
NM_001384140.1(PCDH15):c.1784+16A>T
NM_001384140.1(PCDH15):c.1784+18C>A
NM_001384140.1(PCDH15):c.1784+18C>G
NM_001384140.1(PCDH15):c.1784+1_1784+12del rs2133336162
NM_001384140.1(PCDH15):c.1784+9T>C rs2044704583
NM_001384140.1(PCDH15):c.1785-10T>C rs760677789
NM_001384140.1(PCDH15):c.1785-12C>G rs764181350
NM_001384140.1(PCDH15):c.1785-14C>T
NM_001384140.1(PCDH15):c.1785-22_1785-20del
NM_001384140.1(PCDH15):c.1785-5T>C rs2133062271
NM_001384140.1(PCDH15):c.1785-6C>A rs1362278878
NM_001384140.1(PCDH15):c.1785-6C>G rs1362278878
NM_001384140.1(PCDH15):c.1785-8C>A
NM_001384140.1(PCDH15):c.1785-8C>T
NM_001384140.1(PCDH15):c.1789T>C (p.Ser597Pro) rs2133062157
NM_001384140.1(PCDH15):c.1789del (p.Ser597fs)
NM_001384140.1(PCDH15):c.1794C>A (p.Ile598=)
NM_001384140.1(PCDH15):c.17A>G (p.Tyr6Cys) rs751253853
NM_001384140.1(PCDH15):c.17dup (p.Tyr6Ter)
NM_001384140.1(PCDH15):c.1800T>A (p.Thr600=)
NM_001384140.1(PCDH15):c.1805A>G (p.Tyr602Cys)
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1809T>C (p.Ile603=) rs774896441
NM_001384140.1(PCDH15):c.181C>T (p.Leu61=)
NM_001384140.1(PCDH15):c.182T>G (p.Leu61Arg) rs1050414439
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1831C>T (p.Gln611Ter) rs1350235037
NM_001384140.1(PCDH15):c.1835G>C (p.Ser612Thr) rs2133061458
NM_001384140.1(PCDH15):c.1836C>T (p.Ser612=) rs200226791
NM_001384140.1(PCDH15):c.1837C>T (p.Pro613Ser)
NM_001384140.1(PCDH15):c.1843C>A (p.Arg615Ser) rs139104747
NM_001384140.1(PCDH15):c.1845C>T (p.Arg615=) rs2042567727
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.1857G>C (p.Leu619=) rs2133061046
NM_001384140.1(PCDH15):c.1859T>A (p.Met620Lys)
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
NM_001384140.1(PCDH15):c.1866C>T (p.Ser622=)
NM_001384140.1(PCDH15):c.186C>A (p.Ile62=)
NM_001384140.1(PCDH15):c.186C>T (p.Ile62=) rs1304029741
NM_001384140.1(PCDH15):c.1884C>A (p.Ala628=)
NM_001384140.1(PCDH15):c.1887G>A (p.Met629Ile)
NM_001384140.1(PCDH15):c.1890G>A (p.Arg630=)
NM_001384140.1(PCDH15):c.1892T>C (p.Val631Ala)
NM_001384140.1(PCDH15):c.1895G>C (p.Gly632Ala)
NM_001384140.1(PCDH15):c.1899T>C (p.Ala633=) rs1418804415
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=) rs1554940478
NM_001384140.1(PCDH15):c.1908A>G (p.Leu636=)
NM_001384140.1(PCDH15):c.1913_1917+8del rs2133059770
NM_001384140.1(PCDH15):c.1917+11T>C
NM_001384140.1(PCDH15):c.1917+11T>G
NM_001384140.1(PCDH15):c.1917+13G>A
NM_001384140.1(PCDH15):c.1917+14T>G
NM_001384140.1(PCDH15):c.1917+19_1917+20insGTGTGTGGGTGT
NM_001384140.1(PCDH15):c.1917+1G>A
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1917+7T>A
NM_001384140.1(PCDH15):c.1917+8C>A rs747671187
NM_001384140.1(PCDH15):c.1917+9C>T
NM_001384140.1(PCDH15):c.1918-15G>C
NM_001384140.1(PCDH15):c.1918-1G>A
NM_001384140.1(PCDH15):c.1918-20A>T
NM_001384140.1(PCDH15):c.1918-8C>T rs2136050318
NM_001384140.1(PCDH15):c.1926T>A (p.Asp642Glu)
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1928G>A (p.Arg643Gln)
NM_001384140.1(PCDH15):c.192G>A (p.Gly64=)
NM_001384140.1(PCDH15):c.1931A>C (p.Glu644Ala) rs2094574219
NM_001384140.1(PCDH15):c.1938C>T (p.Asp646=)
NM_001384140.1(PCDH15):c.1950T>C (p.Tyr650=)
NM_001384140.1(PCDH15):c.1953C>T (p.Ala651=) rs2136049828
NM_001384140.1(PCDH15):c.1957_1960del (p.Glu653fs)
NM_001384140.1(PCDH15):c.1958A>G (p.Glu653Gly)
NM_001384140.1(PCDH15):c.195T>A (p.Thr65=) rs770371293
NM_001384140.1(PCDH15):c.1968T>C (p.Asp656=)
NM_001384140.1(PCDH15):c.1977_1978del (p.Arg659fs) rs2136049616
NM_001384140.1(PCDH15):c.1987C>T (p.Leu663Phe) rs758868732
NM_001384140.1(PCDH15):c.1997+12del
NM_001384140.1(PCDH15):c.1997+14G>T
NM_001384140.1(PCDH15):c.1997+17T>C
NM_001384140.1(PCDH15):c.1998-13G>C
NM_001384140.1(PCDH15):c.1998-13G>T
NM_001384140.1(PCDH15):c.1998-15T>C
NM_001384140.1(PCDH15):c.1998-1G>A
NM_001384140.1(PCDH15):c.1998-21GTTT[2] rs763135922
NM_001384140.1(PCDH15):c.1998-21GTTT[4]
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1998-4del
NM_001384140.1(PCDH15):c.1998-5A>G
NM_001384140.1(PCDH15):c.1998-5A>T rs2094400725
NM_001384140.1(PCDH15):c.1998-8G>T rs2135948339
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.2004G>A (p.Gly668=) rs759092602
NM_001384140.1(PCDH15):c.2007T>C (p.Ile669=)
NM_001384140.1(PCDH15):c.2025A>T (p.Ala675=)
NM_001384140.1(PCDH15):c.2029_2044del (p.Asp677fs) rs765906921
NM_001384140.1(PCDH15):c.2029_2044dup (p.Asp682delinsGlyGlnGlyLysHisTer) rs765906921
NM_001384140.1(PCDH15):c.2031C>T (p.Asp677=)
NM_001384140.1(PCDH15):c.2031del (p.Asp677fs)
NM_001384140.1(PCDH15):c.2032A>C (p.Arg678=) rs962705628
NM_001384140.1(PCDH15):c.2034G>A (p.Arg678=) rs2135947809
NM_001384140.1(PCDH15):c.2036A>G (p.Glu679Gly)
NM_001384140.1(PCDH15):c.2039G>A (p.Ser680Asn) rs762818138
NM_001384140.1(PCDH15):c.2043T>C (p.Thr681=)
NM_001384140.1(PCDH15):c.2046T>C (p.Asp682=) rs769742711
NM_001384140.1(PCDH15):c.2058G>A (p.Leu686=) rs1443886675
NM_001384140.1(PCDH15):c.2058G>C (p.Leu686=)
NM_001384140.1(PCDH15):c.2058G>T (p.Leu686=)
NM_001384140.1(PCDH15):c.2059A>C (p.Ile687Leu) rs773061675
NM_001384140.1(PCDH15):c.2064C>A (p.Ile688=)
NM_001384140.1(PCDH15):c.2064C>T (p.Ile688=) rs1376089788
NM_001384140.1(PCDH15):c.2069C>T (p.Ala690Val)
NM_001384140.1(PCDH15):c.2082G>C (p.Arg694Ser)
NM_001384140.1(PCDH15):c.2088T>C (p.Asp696=)
NM_001384140.1(PCDH15):c.2088_2089insA (p.Gly697fs) rs2135947078
NM_001384140.1(PCDH15):c.2091+14C>T
NM_001384140.1(PCDH15):c.2091+1G>A rs2135947041
NM_001384140.1(PCDH15):c.2091+7A>C
NM_001384140.1(PCDH15):c.2091+7A>G rs2094398205
NM_001384140.1(PCDH15):c.2092-12T>G
NM_001384140.1(PCDH15):c.2092-15G>A
NM_001384140.1(PCDH15):c.2092-482_2092del
NM_001384140.1(PCDH15):c.2092-7C>T rs748605459
NM_001384140.1(PCDH15):c.2092-8del
NM_001384140.1(PCDH15):c.2100T>C (p.Thr700=)
NM_001384140.1(PCDH15):c.2102C>A (p.Ala701Asp) rs199537178
NM_001384140.1(PCDH15):c.2106A>G (p.Thr702=)
NM_001384140.1(PCDH15):c.2107del (p.Thr702_Val703insTer)
NM_001384140.1(PCDH15):c.2117T>C (p.Val706Ala)
NM_001384140.1(PCDH15):c.2124A>G (p.Thr708=) rs2135811171
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.2130C>T (p.Val710=)
NM_001384140.1(PCDH15):c.2132A>G (p.Asn711Ser)
NM_001384140.1(PCDH15):c.2133T>C (p.Asn711=) rs2094144870
NM_001384140.1(PCDH15):c.2142T>C (p.Ala714=)
NM_001384140.1(PCDH15):c.2151del (p.Phe717fs)
NM_001384140.1(PCDH15):c.2156del (p.Pro719fs) rs2135810742
NM_001384140.1(PCDH15):c.2160T>A (p.Tyr720Ter)
NM_001384140.1(PCDH15):c.2163G>C (p.Leu721=)
NM_001384140.1(PCDH15):c.2168G>T (p.Arg723Ile) rs1428697668
NM_001384140.1(PCDH15):c.216C>T (p.Thr72=) rs2135025544
NM_001384140.1(PCDH15):c.2178T>G (p.Ser726=) rs899787874
NM_001384140.1(PCDH15):c.2179G>C (p.Val727Leu) rs2094144298
NM_001384140.1(PCDH15):c.2184G>T (p.Val728=)
NM_001384140.1(PCDH15):c.2187A>G (p.Glu729=)
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter) rs2094144044
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala) rs749438162
NM_001384140.1(PCDH15):c.2199T>C (p.Asn733=) rs2135810339
NM_001384140.1(PCDH15):c.2201C>T (p.Ala734Val)
NM_001384140.1(PCDH15):c.2210G>C (p.Gly737Ala) rs902984656
NM_001384140.1(PCDH15):c.2212C>T (p.Gln738Ter) rs2135810142
NM_001384140.1(PCDH15):c.2215G>C (p.Val739Leu)
NM_001384140.1(PCDH15):c.2217A>G (p.Val739=)
NM_001384140.1(PCDH15):c.2220+10A>G rs2135809881
NM_001384140.1(PCDH15):c.2220+16A>G
NM_001384140.1(PCDH15):c.2220+18A>G
NM_001384140.1(PCDH15):c.2220+19T>C
NM_001384140.1(PCDH15):c.2220+1G>A rs2094143468
NM_001384140.1(PCDH15):c.2220+8G>T
NM_001384140.1(PCDH15):c.2220+9A>G rs886047065
NM_001384140.1(PCDH15):c.2221-15dup rs748865551
NM_001384140.1(PCDH15):c.2221-16T>A
NM_001384140.1(PCDH15):c.2221-16T>C
NM_001384140.1(PCDH15):c.2221-17_2221-10del rs779527281
NM_001384140.1(PCDH15):c.2221-5A>G
NM_001384140.1(PCDH15):c.2223A>T (p.Ala741=) rs201332784
NM_001384140.1(PCDH15):c.2226A>G (p.Thr742=)
NM_001384140.1(PCDH15):c.2232T>C (p.Pro744=)
NM_001384140.1(PCDH15):c.2232T>G (p.Pro744=)
NM_001384140.1(PCDH15):c.2240G>T (p.Gly747Val) rs765302336
NM_001384140.1(PCDH15):c.2256G>A (p.Val752=)
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.2267del (p.Leu756fs) rs2135323462
NM_001384140.1(PCDH15):c.2271T>G (p.Gly757=) rs2135323353
NM_001384140.1(PCDH15):c.2273A>T (p.Asn758Ile)
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_001384140.1(PCDH15):c.2286T>C (p.Leu762=) rs1589966810
NM_001384140.1(PCDH15):c.2291G>A (p.Arg764His)
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2298A>G (p.Thr766=)
NM_001384140.1(PCDH15):c.2307G>A (p.Gly769=)
NM_001384140.1(PCDH15):c.2319A>T (p.Thr773=)
NM_001384140.1(PCDH15):c.2321del (p.Ala774fs) rs2135322427
NM_001384140.1(PCDH15):c.2328G>A (p.Lys776=)
NM_001384140.1(PCDH15):c.2334C>T (p.Asn778=)
NM_001384140.1(PCDH15):c.2346G>A (p.Arg782=) rs2135322188
NM_001384140.1(PCDH15):c.2361T>C (p.Leu787=) rs2135321928
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.2376A>G (p.Thr792=) rs2135321649
NM_001384140.1(PCDH15):c.2382A>G (p.Gly794=) rs1279344505
NM_001384140.1(PCDH15):c.2394T>C (p.Pro798=)
NM_001384140.1(PCDH15):c.2397T>G (p.Arg799=)
NM_001384140.1(PCDH15):c.239A>G (p.Asn80Ser)
NM_001384140.1(PCDH15):c.2403A>G (p.Ser801=)
NM_001384140.1(PCDH15):c.240T>C (p.Asn80=)
NM_001384140.1(PCDH15):c.2413T>G (p.Leu805Val)
NM_001384140.1(PCDH15):c.2421C>A (p.Ile807=)
NM_001384140.1(PCDH15):c.2427T>C (p.Val809=)
NM_001384140.1(PCDH15):c.2450C>G (p.Pro817Arg)
NM_001384140.1(PCDH15):c.2451T>C (p.Pro817=)
NM_001384140.1(PCDH15):c.2451_2452delinsAA (p.Val818Met)
NM_001384140.1(PCDH15):c.2457C>T (p.Phe819=) rs2135320091
NM_001384140.1(PCDH15):c.2458A>G (p.Thr820Ala)
NM_001384140.1(PCDH15):c.2460C>T (p.Thr820=) rs2135320051
NM_001384140.1(PCDH15):c.2468C>T (p.Thr823Ile)
NM_001384140.1(PCDH15):c.2477dup (p.Leu827fs)
NM_001384140.1(PCDH15):c.2491A>T (p.Asn831Tyr) rs2135319664
NM_001384140.1(PCDH15):c.2496G>A (p.Leu832=) rs2135319547
NM_001384140.1(PCDH15):c.2502T>G (p.Ala834=)
NM_001384140.1(PCDH15):c.2511C>T (p.Thr837=)
NM_001384140.1(PCDH15):c.2514C>T (p.Ile838=) rs779672469
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr) rs567811243
NM_001384140.1(PCDH15):c.2526+10A>G
NM_001384140.1(PCDH15):c.2526+15G>A
NM_001384140.1(PCDH15):c.2526+17A>G
NM_001384140.1(PCDH15):c.2526+20T>A
NM_001384140.1(PCDH15):c.2526+2T>C rs2135319137
NM_001384140.1(PCDH15):c.2526+9G>C
NM_001384140.1(PCDH15):c.2526+9del rs2135319060
NM_001384140.1(PCDH15):c.2526+9dup
NM_001384140.1(PCDH15):c.2527-13C>T
NM_001384140.1(PCDH15):c.2527-14_2527-12del
NM_001384140.1(PCDH15):c.2527-16C>G
NM_001384140.1(PCDH15):c.2527-19A>G
NM_001384140.1(PCDH15):c.2527-20T>C
NM_001384140.1(PCDH15):c.2527-4A>G rs778122810
NM_001384140.1(PCDH15):c.2527-7A>G rs368267236
NM_001384140.1(PCDH15):c.2529C>A (p.Ala843=) rs2135285044
NM_001384140.1(PCDH15):c.2532A>G (p.Lys844=)
NM_001384140.1(PCDH15):c.2540A>G (p.Asp847Gly) rs2092879666
NM_001384140.1(PCDH15):c.2544T>C (p.Leu848=) rs780674525
NM_001384140.1(PCDH15):c.2547A>G (p.Gly849=)
NM_001384140.1(PCDH15):c.2550A>G (p.Ala850=) rs140893140
NM_001384140.1(PCDH15):c.2550A>T (p.Ala850=) rs140893140
NM_001384140.1(PCDH15):c.2552del (p.Asn851fs)
NM_001384140.1(PCDH15):c.2556G>A (p.Val852=)
NM_001384140.1(PCDH15):c.2562C>T (p.Tyr854=) rs1416481722
NM_001384140.1(PCDH15):c.2568A>T (p.Ile856=) rs760300692
NM_001384140.1(PCDH15):c.2572del (p.Ser858fs) rs2092878502
NM_001384140.1(PCDH15):c.2580A>T (p.Glu860Asp)
NM_001384140.1(PCDH15):c.258G>A (p.Leu86=) rs2135024351
NM_001384140.1(PCDH15):c.2595dup (p.Ala866fs)
NM_001384140.1(PCDH15):c.2604T>A (p.His868Gln)
NM_001384140.1(PCDH15):c.2607A>G (p.Pro869=) rs2135283912
NM_001384140.1(PCDH15):c.2615G>A (p.Gly872Glu) rs2135283773
NM_001384140.1(PCDH15):c.2617G>A (p.Glu873Lys)
NM_001384140.1(PCDH15):c.2617G>T (p.Glu873Ter)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter) rs2092876200
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn) rs2092876050
NM_001384140.1(PCDH15):c.2638T>C (p.Leu880=)
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
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.2651del (p.Ala884fs) rs2135283149
NM_001384140.1(PCDH15):c.2664A>G (p.Gln888=) rs2135282954
NM_001384140.1(PCDH15):c.2668G>A (p.Ala890Thr)
NM_001384140.1(PCDH15):c.2685G>A (p.Leu895=)
NM_001384140.1(PCDH15):c.2685G>T (p.Leu895=) rs759471464
NM_001384140.1(PCDH15):c.2687dup (p.Glu897fs)
NM_001384140.1(PCDH15):c.268G>A (p.Val90Ile)
NM_001384140.1(PCDH15):c.2694C>A (p.Ala898=)
NM_001384140.1(PCDH15):c.2700T>C (p.Asp900=) rs1589949635
NM_001384140.1(PCDH15):c.2706T>C (p.Tyr902=) rs1165535726
NM_001384140.1(PCDH15):c.2712A>G (p.Thr904=)
NM_001384140.1(PCDH15):c.2714T>G (p.Met905Arg)
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=) rs727504835
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.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2751+10A>G rs2135281452
NM_001384140.1(PCDH15):c.2751+11G>A rs766479980
NM_001384140.1(PCDH15):c.2751+13G>T
NM_001384140.1(PCDH15):c.2751+18C>T
NM_001384140.1(PCDH15):c.2751+8C>T rs1360011079
NM_001384140.1(PCDH15):c.2751+9dup rs2135281499
NM_001384140.1(PCDH15):c.2752-13T>A
NM_001384140.1(PCDH15):c.2752-13T>C
NM_001384140.1(PCDH15):c.2752-15A>G
NM_001384140.1(PCDH15):c.2752-20C>T
NM_001384140.1(PCDH15):c.2752-6T>C
NM_001384140.1(PCDH15):c.2752-8T>C rs1589822605
NM_001384140.1(PCDH15):c.2754T>C (p.Asp918=) rs2134904496
NM_001384140.1(PCDH15):c.2760T>C (p.Asn920=)
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.2769T>A (p.Pro923=) rs727503366
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_001384140.1(PCDH15):c.2781T>C (p.Ser927=)
NM_001384140.1(PCDH15):c.2786_2787delinsAC (p.Arg929His) rs2134903782
NM_001384140.1(PCDH15):c.2786_2787delinsAG (p.Arg929Gln)
NM_001384140.1(PCDH15):c.2793C>G (p.Tyr931Ter) rs2091805733
NM_001384140.1(PCDH15):c.2793C>T (p.Tyr931=)
NM_001384140.1(PCDH15):c.2798G>A (p.Gly933Glu) rs372984970
NM_001384140.1(PCDH15):c.2799G>A (p.Gly933=)
NM_001384140.1(PCDH15):c.2805G>T (p.Val935=) rs1406455824
NM_001384140.1(PCDH15):c.2809C>G (p.Pro937Ala)
NM_001384140.1(PCDH15):c.2814T>C (p.Asp938=)
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2823G>A (p.Lys941=) rs773599066
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2826T>C (p.Gly942=) rs2134902262
NM_001384140.1(PCDH15):c.2829A>T (p.Thr943=)
NM_001384140.1(PCDH15):c.282T>G (p.Leu94=) rs1948817425
NM_001384140.1(PCDH15):c.2838A>G (p.Thr946=) rs2091800436
NM_001384140.1(PCDH15):c.2844T>A (p.Val948=) rs2134901749
NM_001384140.1(PCDH15):c.2847T>C (p.Tyr949=) rs2134901643
NM_001384140.1(PCDH15):c.284T>A (p.Phe95Tyr) rs1190395687
NM_001384140.1(PCDH15):c.284T>C (p.Phe95Ser)
NM_001384140.1(PCDH15):c.2850T>C (p.Ala950=) rs2134901606
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=) rs375965861
NM_001384140.1(PCDH15):c.2859A>T (p.Ala953=) rs375965861
NM_001384140.1(PCDH15):c.2868+10A>C rs1589821675
NM_001384140.1(PCDH15):c.2868+17_2868+20del
NM_001384140.1(PCDH15):c.2868+2T>A
NM_001384140.1(PCDH15):c.2868+2T>C rs2091798175
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.2869-13A>C
NM_001384140.1(PCDH15):c.2869-13A>G
NM_001384140.1(PCDH15):c.2869-13_2869-11del rs879272050
NM_001384140.1(PCDH15):c.2869-17T>G
NM_001384140.1(PCDH15):c.2869-19A>G rs2134303197
NM_001384140.1(PCDH15):c.2869-1G>A rs1554883705
NM_001384140.1(PCDH15):c.2869-5T>C
NM_001384140.1(PCDH15):c.2869-6_2869-2del rs752879165
NM_001384140.1(PCDH15):c.2875C>T (p.Pro959Ser)
NM_001384140.1(PCDH15):c.2877T>G (p.Pro959=)
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.2889G>A (p.Val963=)
NM_001384140.1(PCDH15):c.2892G>A (p.Arg964=) rs2134302594
NM_001384140.1(PCDH15):c.2895T>A (p.Tyr965Ter)
NM_001384140.1(PCDH15):c.2896A>C (p.Arg966=) rs2134302540
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.2904T>C (p.Asp968=)
NM_001384140.1(PCDH15):c.2910A>G (p.Val970=)
NM_001384140.1(PCDH15):c.2913G>A (p.Gln971=)
NM_001384140.1(PCDH15):c.2918C>T (p.Pro973Leu)
NM_001384140.1(PCDH15):c.2919T>C (p.Pro973=) rs1225231777
NM_001384140.1(PCDH15):c.2919_2923del (p.Tyr974fs) rs2134302083
NM_001384140.1(PCDH15):c.291C>T (p.Asn97=)
NM_001384140.1(PCDH15):c.2922C>T (p.Tyr974=) rs2088359285
NM_001384140.1(PCDH15):c.2924del (p.Pro975fs)
NM_001384140.1(PCDH15):c.2927C>A (p.Ala976Asp)
NM_001384140.1(PCDH15):c.2930G>A (p.Ser977Asn)
NM_001384140.1(PCDH15):c.2934T>C (p.Ile978=) rs2134301828
NM_001384140.1(PCDH15):c.2943G>A (p.Val981=)
NM_001384140.1(PCDH15):c.2961A>G (p.Arg987=) rs1564869395
NM_001384140.1(PCDH15):c.2969C>A (p.Thr990Lys) rs2134301436
NM_001384140.1(PCDH15):c.2972G>A (p.Arg991Gln)
NM_001384140.1(PCDH15):c.297C>A (p.Thr99=)
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=) rs762026724
NM_001384140.1(PCDH15):c.297C>T (p.Thr99=) rs762026724
NM_001384140.1(PCDH15):c.2985T>C (p.Asn995=)
NM_001384140.1(PCDH15):c.2997A>G (p.Thr999=) rs956006330
NM_001384140.1(PCDH15):c.29G>A (p.Cys10Tyr)
NM_001384140.1(PCDH15):c.3009+13T>C
NM_001384140.1(PCDH15):c.3009+16C>T
NM_001384140.1(PCDH15):c.3009+19T>A
NM_001384140.1(PCDH15):c.3009+19T>C
NM_001384140.1(PCDH15):c.3009+20A>G
NM_001384140.1(PCDH15):c.300A>C (p.Gly100=) rs2135023055
NM_001384140.1(PCDH15):c.3010-14del
NM_001384140.1(PCDH15):c.3010-15T>C
NM_001384140.1(PCDH15):c.3010-16T>A rs749543947
NM_001384140.1(PCDH15):c.3010-1G>C rs2134277047
NM_001384140.1(PCDH15):c.3010-8T>G
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=) rs2088092428
NM_001384140.1(PCDH15):c.3018G>C (p.Val1006=)
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.3037G>T (p.Glu1013Ter)
NM_001384140.1(PCDH15):c.303A>G (p.Arg101=)
NM_001384140.1(PCDH15):c.3040_3047dup (p.Met1016delinsIleLeuTer) rs1554882652
NM_001384140.1(PCDH15):c.3042T>A (p.Pro1014=) rs775306686
NM_001384140.1(PCDH15):c.3045G>A (p.Val1015=) rs981351289
NM_001384140.1(PCDH15):c.3048G>A (p.Met1016Ile) rs2088086111
NM_001384140.1(PCDH15):c.3060C>T (p.Ala1020=)
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.3075T>C (p.Leu1025=)
NM_001384140.1(PCDH15):c.3084T>C (p.His1028=) rs755468729
NM_001384140.1(PCDH15):c.3085C>A (p.Pro1029Thr)
NM_001384140.1(PCDH15):c.3087T>C (p.Pro1029=) rs1264180698
NM_001384140.1(PCDH15):c.308T>C (p.Leu103Pro)
NM_001384140.1(PCDH15):c.3096C>A (p.Ile1032=) rs370200250
NM_001384140.1(PCDH15):c.3099A>G (p.Pro1033=)
NM_001384140.1(PCDH15):c.30T>C (p.Cys10=) rs1276889888
NM_001384140.1(PCDH15):c.3101G>T (p.Arg1034Leu) rs907693214
NM_001384140.1(PCDH15):c.3102C>T (p.Arg1034=)
NM_001384140.1(PCDH15):c.3111G>A (p.Gln1037=) rs2134275750
NM_001384140.1(PCDH15):c.3117A>G (p.Glu1039=) rs1305021887
NM_001384140.1(PCDH15):c.3119A>G (p.Tyr1040Cys) rs2088073753
NM_001384140.1(PCDH15):c.3120T>G (p.Tyr1040Ter)
NM_001384140.1(PCDH15):c.3122+11C>A
NM_001384140.1(PCDH15):c.3122+11C>T
NM_001384140.1(PCDH15):c.3122+13G>T
NM_001384140.1(PCDH15):c.3122+16C>G
NM_001384140.1(PCDH15):c.3122+16C>T
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3122+7A>T
NM_001384140.1(PCDH15):c.3123-12C>T
NM_001384140.1(PCDH15):c.3123-16T>A rs992186847
NM_001384140.1(PCDH15):c.3123-4G>A
NM_001384140.1(PCDH15):c.3123-4G>T
NM_001384140.1(PCDH15):c.3123-5T>C rs1193370256
NM_001384140.1(PCDH15):c.3123-5T>G
NM_001384140.1(PCDH15):c.3124C>A (p.Pro1042Thr)
NM_001384140.1(PCDH15):c.3129T>A (p.Pro1043=) rs1203400741
NM_001384140.1(PCDH15):c.3134T>C (p.Val1045Ala) rs2134074019
NM_001384140.1(PCDH15):c.3135A>G (p.Val1045=)
NM_001384140.1(PCDH15):c.3147C>G (p.Ala1049=) rs1589531636
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.3156G>A (p.Gly1052=) rs144492858
NM_001384140.1(PCDH15):c.3159C>G (p.Thr1053=) rs2134073774
NM_001384140.1(PCDH15):c.3161T>C (p.Met1054Thr) rs2134073743
NM_001384140.1(PCDH15):c.3162G>A (p.Met1054Ile)
NM_001384140.1(PCDH15):c.3167del (p.Gly1056fs)
NM_001384140.1(PCDH15):c.3168T>C (p.Gly1056=)
NM_001384140.1(PCDH15):c.318+10T>C rs916367579
NM_001384140.1(PCDH15):c.318+16del
NM_001384140.1(PCDH15):c.318+17del
NM_001384140.1(PCDH15):c.318+1G>A
NM_001384140.1(PCDH15):c.318+4A>C rs2135022182
NM_001384140.1(PCDH15):c.318+7G>A rs2135022078
NM_001384140.1(PCDH15):c.318+8A>G rs1322735430
NM_001384140.1(PCDH15):c.318+9T>C rs1263619734
NM_001384140.1(PCDH15):c.318+9dup rs759464317
NM_001384140.1(PCDH15):c.3186C>T (p.Ala1062=) rs2134073455
NM_001384140.1(PCDH15):c.319-10T>C
NM_001384140.1(PCDH15):c.319-11C>T rs1339321225
NM_001384140.1(PCDH15):c.319-15A>C
NM_001384140.1(PCDH15):c.319-15A>G rs1313132799
NM_001384140.1(PCDH15):c.319-16A>G
NM_001384140.1(PCDH15):c.319-18G>C rs761263266
NM_001384140.1(PCDH15):c.319-20A>T
NM_001384140.1(PCDH15):c.319-4G>T
NM_001384140.1(PCDH15):c.319-5T>G rs551311438
NM_001384140.1(PCDH15):c.319-7A>G
NM_001384140.1(PCDH15):c.319-7A>T rs2134719008
NM_001384140.1(PCDH15):c.3196A>C (p.Ser1066Arg)
NM_001384140.1(PCDH15):c.3207C>A (p.Tyr1069Ter)
NM_001384140.1(PCDH15):c.3207C>T (p.Tyr1069=) rs2086001179
NM_001384140.1(PCDH15):c.3210C>A (p.Ser1070=)
NM_001384140.1(PCDH15):c.3219A>T (p.Ser1073=)
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=) rs1345969752
NM_001384140.1(PCDH15):c.3221_3222del (p.Gly1074fs)
NM_001384140.1(PCDH15):c.3232+10C>T rs1589530920
NM_001384140.1(PCDH15):c.3232+13_3232+14del
NM_001384140.1(PCDH15):c.3232+18T>C
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3232+8G>A
NM_001384140.1(PCDH15):c.3233-11T>G
NM_001384140.1(PCDH15):c.3233-13T>C
NM_001384140.1(PCDH15):c.3233-13T>G
NM_001384140.1(PCDH15):c.3233-14A>G rs2134054895
NM_001384140.1(PCDH15):c.3233-16G>A
NM_001384140.1(PCDH15):c.3233-18T>C
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.3233-4C>A rs368331130
NM_001384140.1(PCDH15):c.3233-7T>C
NM_001384140.1(PCDH15):c.3234T>C (p.Asp1078=)
NM_001384140.1(PCDH15):c.323C>T (p.Pro108Leu) rs1161238143
NM_001384140.1(PCDH15):c.324G>C (p.Pro108=)
NM_001384140.1(PCDH15):c.3251del (p.Asn1084fs)
NM_001384140.1(PCDH15):c.3256del (p.Thr1086fs)
NM_001384140.1(PCDH15):c.3258A>G (p.Thr1086=)
NM_001384140.1(PCDH15):c.3267C>T (p.Ile1089=) rs2134054501
NM_001384140.1(PCDH15):c.3270T>G (p.Tyr1090Ter)
NM_001384140.1(PCDH15):c.3273G>T (p.Val1091=) rs897069925
NM_001384140.1(PCDH15):c.3275A>G (p.Asn1092Ser) rs2085810873
NM_001384140.1(PCDH15):c.3281C>T (p.Pro1094Leu)
NM_001384140.1(PCDH15):c.3285G>T (p.Leu1095=) rs374940427
NM_001384140.1(PCDH15):c.3297C>A (p.Thr1099=) rs749666237
NM_001384140.1(PCDH15):c.3306C>G (p.Ser1102Arg)
NM_001384140.1(PCDH15):c.3306C>T (p.Ser1102=) rs1291774713
NM_001384140.1(PCDH15):c.3308A>G (p.Tyr1103Cys)
NM_001384140.1(PCDH15):c.3315T>C (p.Leu1105=)
NM_001384140.1(PCDH15):c.3316C>A (p.Arg1106=)
NM_001384140.1(PCDH15):c.3317G>C (p.Arg1106Pro)
NM_001384140.1(PCDH15):c.3317G>T (p.Arg1106Leu) rs746935130
NM_001384140.1(PCDH15):c.3333C>A (p.Ser1111=) rs2134053516
NM_001384140.1(PCDH15):c.3333C>G (p.Ser1111=) rs2134053516
NM_001384140.1(PCDH15):c.3334C>T (p.Leu1112=)
NM_001384140.1(PCDH15):c.333A>C (p.Ile111=) rs2134717741
NM_001384140.1(PCDH15):c.3341T>G (p.Val1114Gly) rs563855694
NM_001384140.1(PCDH15):c.3342G>A (p.Val1114=)
NM_001384140.1(PCDH15):c.3350C>T (p.Ala1117Val)
NM_001384140.1(PCDH15):c.3358C>A (p.Arg1120=)
NM_001384140.1(PCDH15):c.3359G>A (p.Arg1120Gln)
NM_001384140.1(PCDH15):c.3364C>T (p.Pro1122Ser)
NM_001384140.1(PCDH15):c.3373+11C>T
NM_001384140.1(PCDH15):c.3373+12T>G
NM_001384140.1(PCDH15):c.3373+13_3373+22del rs773563191
NM_001384140.1(PCDH15):c.3373+14C>A
NM_001384140.1(PCDH15):c.3373+14C>T
NM_001384140.1(PCDH15):c.3373+16T>G
NM_001384140.1(PCDH15):c.3373+19A>G
NM_001384140.1(PCDH15):c.3374-17C>T
NM_001384140.1(PCDH15):c.3374-18T>A rs2133667965
NM_001384140.1(PCDH15):c.3374-18T>C
NM_001384140.1(PCDH15):c.3374-2A>G
NM_001384140.1(PCDH15):c.3374-4C>G rs111739360
NM_001384140.1(PCDH15):c.3374-6C>T rs2133667704
NM_001384140.1(PCDH15):c.3374-7C>A
NM_001384140.1(PCDH15):c.3374-8T>C
NM_001384140.1(PCDH15):c.3374-9G>C rs2133667819
NM_001384140.1(PCDH15):c.3375C>T (p.Ser1125=)
NM_001384140.1(PCDH15):c.3392A>G (p.Tyr1131Cys)
NM_001384140.1(PCDH15):c.340A>G (p.Ile114Val)
NM_001384140.1(PCDH15):c.3411A>G (p.Glu1137=) rs969425785
NM_001384140.1(PCDH15):c.3414T>C (p.Asn1138=) rs2133666487
NM_001384140.1(PCDH15):c.3418C>T (p.His1140Tyr)
NM_001384140.1(PCDH15):c.3425dup (p.Val1143fs) rs2082449528
NM_001384140.1(PCDH15):c.3441del (p.Lys1147fs) rs770832663
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3444C>A (p.Phe1148Leu)
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_001384140.1(PCDH15):c.3453A>T (p.Gly1151=) rs2133665596
NM_001384140.1(PCDH15):c.3456T>G (p.Gly1152=) rs202091131
NM_001384140.1(PCDH15):c.3460T>C (p.Ser1154Pro)
NM_001384140.1(PCDH15):c.3471A>G (p.Ala1157=)
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3483T>A (p.Thr1161=) rs772300262
NM_001384140.1(PCDH15):c.3484T>G (p.Ser1162Ala) rs2133664859
NM_001384140.1(PCDH15):c.3486T>C (p.Ser1162=)
NM_001384140.1(PCDH15):c.3486T>G (p.Ser1162=)
NM_001384140.1(PCDH15):c.3489A>G (p.Val1163=) rs1589338030
NM_001384140.1(PCDH15):c.3494G>T (p.Arg1165Ile)
NM_001384140.1(PCDH15):c.3501+15G>T
NM_001384140.1(PCDH15):c.3501+16T>A
NM_001384140.1(PCDH15):c.3501+2T>C rs757418440
NM_001384140.1(PCDH15):c.3501+7G>A rs756402556
NM_001384140.1(PCDH15):c.3501+8G>A rs758025170
NM_001384140.1(PCDH15):c.3502-10C>A
NM_001384140.1(PCDH15):c.3502-10C>T
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.3502-11C>A
NM_001384140.1(PCDH15):c.3502-13dup rs750835578
NM_001384140.1(PCDH15):c.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.3502-15_3502-14del
NM_001384140.1(PCDH15):c.3502-15_3502-14insC
NM_001384140.1(PCDH15):c.3502-17T>C
NM_001384140.1(PCDH15):c.3502-18T>G
NM_001384140.1(PCDH15):c.3502-22_3502-21dup rs5785023
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.3502-4C>T rs963205208
NM_001384140.1(PCDH15):c.3502-6G>T
NM_001384140.1(PCDH15):c.3502-9T>A
NM_001384140.1(PCDH15):c.3507T>C (p.Thr1169=)
NM_001384140.1(PCDH15):c.3509_3520del (p.Asp1170_Thr1173del)
NM_001384140.1(PCDH15):c.3516T>C (p.Asp1172=)
NM_001384140.1(PCDH15):c.351G>A (p.Gln117=) rs2134717136
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.3543C>T (p.Tyr1181=)
NM_001384140.1(PCDH15):c.3544del (p.Arg1182fs)
NM_001384140.1(PCDH15):c.3549C>G (p.Leu1183=) rs2133159389
NM_001384140.1(PCDH15):c.3551T>C (p.Ile1184Thr)
NM_001384140.1(PCDH15):c.3554T>C (p.Ile1185Thr)
NM_001384140.1(PCDH15):c.355C>T (p.Gln119Ter) rs1947274911
NM_001384140.1(PCDH15):c.3562A>G (p.Ile1188Val) rs2133159238
NM_001384140.1(PCDH15):c.3570G>A (p.Glu1190=)
NM_001384140.1(PCDH15):c.3576A>G (p.Lys1192=)
NM_001384140.1(PCDH15):c.3579A>G (p.Glu1193=) rs1564640040
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_001384140.1(PCDH15):c.3586G>A (p.Val1196Ile)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3590T>G (p.Val1197Gly)
NM_001384140.1(PCDH15):c.3590_3591dup (p.Glu1198fs)
NM_001384140.1(PCDH15):c.3591G>A (p.Val1197=) rs2133158888
NM_001384140.1(PCDH15):c.3597A>C (p.Thr1199=)
NM_001384140.1(PCDH15):c.3597A>G (p.Thr1199=)
NM_001384140.1(PCDH15):c.3600T>C (p.Tyr1200=)
NM_001384140.1(PCDH15):c.3600T>G (p.Tyr1200Ter) rs768989856
NM_001384140.1(PCDH15):c.3601A>T (p.Thr1201Ser)
NM_001384140.1(PCDH15):c.3603A>G (p.Thr1201=)
NM_001384140.1(PCDH15):c.3606G>T (p.Gly1202=)
NM_001384140.1(PCDH15):c.3606del (p.Ile1204fs)
NM_001384140.1(PCDH15):c.3621T>G (p.Ala1207=) rs1347276029
NM_001384140.1(PCDH15):c.3622A>G (p.Met1208Val)
NM_001384140.1(PCDH15):c.3630C>T (p.Phe1210=) rs750059910
NM_001384140.1(PCDH15):c.3636T>C (p.Asn1212=)
NM_001384140.1(PCDH15):c.363C>T (p.Ile121=) rs2134716610
NM_001384140.1(PCDH15):c.3647C>A (p.Ser1216Tyr) rs367721759
NM_001384140.1(PCDH15):c.3660_3666del (p.Phe1220fs)
NM_001384140.1(PCDH15):c.3661C>T (p.Gln1221Ter) rs1589156388
NM_001384140.1(PCDH15):c.3666T>C (p.Val1222=) rs762138321
NM_001384140.1(PCDH15):c.3668T>G (p.Ile1223Ser)
NM_001384140.1(PCDH15):c.3669T>C (p.Ile1223=) rs767431595
NM_001384140.1(PCDH15):c.366del (p.Asn122fs) rs1589072933
NM_001384140.1(PCDH15):c.3672A>G (p.Ala1224=) rs2133157675
NM_001384140.1(PCDH15):c.3684T>C (p.Tyr1228=) rs761844211
NM_001384140.1(PCDH15):c.3687G>A (p.Gly1229=) rs1373901379
NM_001384140.1(PCDH15):c.3688A>T (p.Lys1230Ter) rs2079479378
NM_001384140.1(PCDH15):c.3691G>A (p.Gly1231Arg)
NM_001384140.1(PCDH15):c.3691G>C (p.Gly1231Arg)
NM_001384140.1(PCDH15):c.3694C>T (p.Leu1232=)
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_001384140.1(PCDH15):c.3709G>A (p.Asp1237Asn)
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=) rs61731382
NM_001384140.1(PCDH15):c.3717+15C>T
NM_001384140.1(PCDH15):c.3717+15del
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>C rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3717+1del
NM_001384140.1(PCDH15):c.3717+8G>T
NM_001384140.1(PCDH15):c.3717C>A (p.Leu1239=) rs756769326
NM_001384140.1(PCDH15):c.3718-11T>C
NM_001384140.1(PCDH15):c.3718-16T>G
NM_001384140.1(PCDH15):c.3718-17G>A
NM_001384140.1(PCDH15):c.3718-19C>T
NM_001384140.1(PCDH15):c.3718-3C>G
NM_001384140.1(PCDH15):c.3718-3C>T rs755749920
NM_001384140.1(PCDH15):c.3721del (p.Ser1241fs)
NM_001384140.1(PCDH15):c.3723C>T (p.Ser1241=) rs748083366
NM_001384140.1(PCDH15):c.3726G>A (p.Val1242=)
NM_001384140.1(PCDH15):c.3729C>G (p.Val1243=) rs2133039483
NM_001384140.1(PCDH15):c.372A>G (p.Lys124=)
NM_001384140.1(PCDH15):c.372A>T (p.Lys124Asn)
NM_001384140.1(PCDH15):c.3730A>G (p.Asn1244Asp)
NM_001384140.1(PCDH15):c.3736C>T (p.Leu1246=) rs2078811943
NM_001384140.1(PCDH15):c.3738G>C (p.Leu1246=)
NM_001384140.1(PCDH15):c.3738G>T (p.Leu1246=)
NM_001384140.1(PCDH15):c.373G>A (p.Val125Met)
NM_001384140.1(PCDH15):c.3741T>C (p.Asp1247=) rs2133039242
NM_001384140.1(PCDH15):c.3745del (p.Gln1249fs)
NM_001384140.1(PCDH15):c.3753T>A (p.Ile1251=)
NM_001384140.1(PCDH15):c.3753dup (p.Val1252fs)
NM_001384140.1(PCDH15):c.3756T>C (p.Val1252=)
NM_001384140.1(PCDH15):c.3760A>C (p.Asn1254His) rs2078810465
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
NM_001384140.1(PCDH15):c.3766C>T (p.Pro1256Ser)
NM_001384140.1(PCDH15):c.3777A>T (p.Leu1259=)
NM_001384140.1(PCDH15):c.3778G>C (p.Val1260Leu)
NM_001384140.1(PCDH15):c.3780G>A (p.Val1260=)
NM_001384140.1(PCDH15):c.3781dup (p.Glu1261fs)
NM_001384140.1(PCDH15):c.3782A>C (p.Glu1261Ala) rs201106387
NM_001384140.1(PCDH15):c.3788dup (p.Ile1264fs)
NM_001384140.1(PCDH15):c.3789del (p.Lys1263_Ile1264insTer) rs2133038541
NM_001384140.1(PCDH15):c.378C>G (p.Gly126=)
NM_001384140.1(PCDH15):c.3791_3792del (p.Ile1264fs) rs2078806601
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala) rs2078805937
NM_001384140.1(PCDH15):c.3806+13G>A
NM_001384140.1(PCDH15):c.3806+16T>C
NM_001384140.1(PCDH15):c.3806+1G>T
NM_001384140.1(PCDH15):c.3806+20T>C
NM_001384140.1(PCDH15):c.3806+7G>A
NM_001384140.1(PCDH15):c.3806+7del rs775150264
NM_001384140.1(PCDH15):c.3807-10del rs776197832
NM_001384140.1(PCDH15):c.3807-12_3807-9del
NM_001384140.1(PCDH15):c.3807-14T>G
NM_001384140.1(PCDH15):c.3807-18A>G
NM_001384140.1(PCDH15):c.3807-7T>C rs199750810
NM_001384140.1(PCDH15):c.3810C>A (p.Ile1270=) rs2132763140
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.381T>A (p.Thr127=)
NM_001384140.1(PCDH15):c.3825T>G (p.Val1275=) rs1394892614
NM_001384140.1(PCDH15):c.382A>G (p.Ile128Val)
NM_001384140.1(PCDH15):c.3846C>T (p.Ala1282=)
NM_001384140.1(PCDH15):c.3852C>G (p.Val1284=)
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.3857T>C (p.Val1286Ala)
NM_001384140.1(PCDH15):c.3864C>T (p.Ser1288=)
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.3879G>T (p.Arg1293=)
NM_001384140.1(PCDH15):c.3882T>C (p.His1294=) rs2132761902
NM_001384140.1(PCDH15):c.3894T>C (p.Phe1298=) rs2132761720
NM_001384140.1(PCDH15):c.389A>G (p.Tyr130Cys)
NM_001384140.1(PCDH15):c.3906T>C (p.Asp1302=) rs2077570237
NM_001384140.1(PCDH15):c.3909C>T (p.Tyr1303=)
NM_001384140.1(PCDH15):c.3912C>G (p.Thr1304=)
NM_001384140.1(PCDH15):c.3918T>A (p.Cys1306Ter)
NM_001384140.1(PCDH15):c.391del (p.His131fs)
NM_001384140.1(PCDH15):c.3924G>A (p.Leu1308=)
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.3946del (p.Gln1316fs) rs1589036783
NM_001384140.1(PCDH15):c.3960C>A (p.Ala1320=)
NM_001384140.1(PCDH15):c.3963C>A (p.Ile1321=) rs781522540
NM_001384140.1(PCDH15):c.3963C>G (p.Ile1321Met) rs781522540
NM_001384140.1(PCDH15):c.3963_3964insA (p.Asp1322fs) rs2077566001
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His) rs1411262816
NM_001384140.1(PCDH15):c.3964del (p.Asp1322fs)
NM_001384140.1(PCDH15):c.396A>G (p.Glu132=)
NM_001384140.1(PCDH15):c.3973G>T (p.Glu1325Ter)
NM_001384140.1(PCDH15):c.3974A>G (p.Glu1325Gly) rs780016103
NM_001384140.1(PCDH15):c.3980T>A (p.Phe1327Tyr)
NM_001384140.1(PCDH15):c.3981_3982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAAATGAGCTTTTT (p.Lys1328delinsPhePhePhePhePhePheXaaXaaXaaXaaArgTyrIleSerGlnCysTyrProSerProLeuProArgProHisHisSerProGlnLysTer)
NM_001384140.1(PCDH15):c.3983+13dup rs746916667
NM_001384140.1(PCDH15):c.3983+3_3983+6del
NM_001384140.1(PCDH15):c.3983+8C>A rs2077563848
NM_001384140.1(PCDH15):c.3983+8C>T
NM_001384140.1(PCDH15):c.3983+9T>G
NM_001384140.1(PCDH15):c.3984-18A>G
NM_001384140.1(PCDH15):c.3984-1G>T rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>T rs1554824185
NM_001384140.1(PCDH15):c.3984-5T>C
NM_001384140.1(PCDH15):c.3984-6A>G rs2077015569
NM_001384140.1(PCDH15):c.3990G>A (p.Leu1330=) rs2132637405
NM_001384140.1(PCDH15):c.39A>T (p.Ser13=)
NM_001384140.1(PCDH15):c.400C>A (p.Arg134=) rs137853003
NM_001384140.1(PCDH15):c.4011C>T (p.Ile1337=) rs2132637076
NM_001384140.1(PCDH15):c.4014T>C (p.Asn1338=) rs2132636985
NM_001384140.1(PCDH15):c.4020C>T (p.Asp1340=) rs2132636936
NM_001384140.1(PCDH15):c.4024C>T (p.Gln1342Ter) rs61731387
NM_001384140.1(PCDH15):c.4029G>T (p.Pro1343=)
NM_001384140.1(PCDH15):c.4032T>C (p.Tyr1344=)
NM_001384140.1(PCDH15):c.4035T>C (p.Tyr1345=)
NM_001384140.1(PCDH15):c.4037G>C (p.Gly1346Ala)
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys) rs1358647851
NM_001384140.1(PCDH15):c.4047A>G (p.Gly1349=)
NM_001384140.1(PCDH15):c.4047A>T (p.Gly1349=) rs2077011452
NM_001384140.1(PCDH15):c.4050C>T (p.Arg1350=) rs2132636501
NM_001384140.1(PCDH15):c.4059G>A (p.Glu1353=)
NM_001384140.1(PCDH15):c.405A>C (p.Ile135=) rs1468116913
NM_001384140.1(PCDH15):c.4062C>T (p.Ile1354=) rs2132636298
NM_001384140.1(PCDH15):c.4074G>A (p.Glu1358=)
NM_001384140.1(PCDH15):c.4079T>C (p.Val1360Ala)
NM_001384140.1(PCDH15):c.4080G>C (p.Val1360=) rs111033499
NM_001384140.1(PCDH15):c.4083C>A (p.Thr1361=) rs2132635904
NM_001384140.1(PCDH15):c.4085G>C (p.Ser1362Thr)
NM_001384140.1(PCDH15):c.4085G>T (p.Ser1362Ile)
NM_001384140.1(PCDH15):c.408G>C (p.Val136=)
NM_001384140.1(PCDH15):c.409G>T (p.Val137Leu)
NM_001384140.1(PCDH15):c.4110A>G (p.Leu1370=) rs2077006762
NM_001384140.1(PCDH15):c.4111G>A (p.Gly1371Arg) rs778193787
NM_001384140.1(PCDH15):c.4119A>G (p.Thr1373=)
NM_001384140.1(PCDH15):c.4119A>T (p.Thr1373=) rs2132635336
NM_001384140.1(PCDH15):c.411G>A (p.Val137=) rs1444023789
NM_001384140.1(PCDH15):c.4122A>G (p.Glu1374=) rs2132635293
NM_001384140.1(PCDH15):c.4125G>C (p.Gly1375=)
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val) rs752371584
NM_001384140.1(PCDH15):c.4128dup (p.Leu1378fs) rs2077005374
NM_001384140.1(PCDH15):c.4140G>C (p.Leu1380=)
NM_001384140.1(PCDH15):c.4143C>T (p.Ala1381=) rs2132635037
NM_001384140.1(PCDH15):c.4147ATC[2] (p.Ile1385del)
NM_001384140.1(PCDH15):c.4153A>G (p.Ile1385Val)
NM_001384140.1(PCDH15):c.4158C>T (p.Leu1386=) rs1253422113
NM_001384140.1(PCDH15):c.4159T>C (p.Cys1387Arg)
NM_001384140.1(PCDH15):c.4163G>A (p.Cys1388Tyr)
NM_001384140.1(PCDH15):c.4167T>C (p.Ile1389=) rs2132634810
NM_001384140.1(PCDH15):c.416A>T (p.Asp139Val)
NM_001384140.1(PCDH15):c.417C>T (p.Asp139=)
NM_001384140.1(PCDH15):c.4182G>T (p.Val1394=)
NM_001384140.1(PCDH15):c.4188G>A (p.Leu1396=)
NM_001384140.1(PCDH15):c.4191C>G (p.Val1397=)
NM_001384140.1(PCDH15):c.4193G>A (p.Ser1398Asn) rs2132634589
NM_001384140.1(PCDH15):c.4197C>G (p.Tyr1399Ter) rs2132634562
NM_001384140.1(PCDH15):c.4201C>G (p.Gln1401Glu) rs2077002696
NM_001384140.1(PCDH15):c.4201C>T (p.Gln1401Ter)
NM_001384140.1(PCDH15):c.4202+15A>G rs761566345
NM_001384140.1(PCDH15):c.4202+18G>A
NM_001384140.1(PCDH15):c.4202+19T>A rs2077001583
NM_001384140.1(PCDH15):c.4202+8T>A rs2132634323
NM_001384140.1(PCDH15):c.4202+9del rs2132634297
NM_001384140.1(PCDH15):c.4203-10T>C rs2132598726
NM_001384140.1(PCDH15):c.4203-12T>C rs201987190
NM_001384140.1(PCDH15):c.4203-14G>C
NM_001384140.1(PCDH15):c.4203-18T>G
NM_001384140.1(PCDH15):c.4203-19C>T rs2132598957
NM_001384140.1(PCDH15):c.4203-1G>A rs2076841806
NM_001384140.1(PCDH15):c.4203-4del rs779015202
NM_001384140.1(PCDH15):c.4203-5_4203-2dup
NM_001384140.1(PCDH15):c.4203-6A>T rs2132598519
NM_001384140.1(PCDH15):c.4203-7C>A
NM_001384140.1(PCDH15):c.4203-7del rs2132598591
NM_001384140.1(PCDH15):c.4203G>A (p.Gln1401=) rs757898459
NM_001384140.1(PCDH15):c.4203G>T (p.Gln1401His)
NM_001384140.1(PCDH15):c.4204T>G (p.Phe1402Val)
NM_001384140.1(PCDH15):c.4209A>G (p.Lys1403=)
NM_001384140.1(PCDH15):c.4211+12T>G rs766470560
NM_001384140.1(PCDH15):c.4211+15del
NM_001384140.1(PCDH15):c.4211+1G>T
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4211+4_4211+7dup
NM_001384140.1(PCDH15):c.4211+5G>T
NM_001384140.1(PCDH15):c.4211+7A>G rs756020408
NM_001384140.1(PCDH15):c.4211+9A>G rs1588974103
NM_001384140.1(PCDH15):c.4211+9_4211+11dup
NM_001384140.1(PCDH15):c.4212-11_4212-7dup
NM_001384140.1(PCDH15):c.4212-12A>G
NM_001384140.1(PCDH15):c.4212-17T>C
NM_001384140.1(PCDH15):c.4212-18A>G
NM_001384140.1(PCDH15):c.4212-1G>A rs2132580888
NM_001384140.1(PCDH15):c.4212-20C>T rs775958545
NM_001384140.1(PCDH15):c.4212-4C>A rs1742862612
NM_001384140.1(PCDH15):c.4212-4C>T rs1742862612
NM_001384140.1(PCDH15):c.4212-7del
NM_001384140.1(PCDH15):c.4213C>T (p.Arg1405Cys)
NM_001384140.1(PCDH15):c.4223A>G (p.Glu1408Gly)
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4233G>A (p.Lys1411=) rs767354331
NM_001384140.1(PCDH15):c.4238del (p.Ala1413fs)
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) rs2134714165
NM_001384140.1(PCDH15):c.4248G>A (p.Gln1416=) rs2132580181
NM_001384140.1(PCDH15):c.4251C>A (p.Ala1417=) rs751189532
NM_001384140.1(PCDH15):c.4251C>G (p.Ala1417=) rs751189532
NM_001384140.1(PCDH15):c.4251C>T (p.Ala1417=) rs751189532
NM_001384140.1(PCDH15):c.4254A>C (p.Ala1418=) rs764548141
NM_001384140.1(PCDH15):c.4255T>C (p.Leu1419=) rs2132579908
NM_001384140.1(PCDH15):c.4274del (p.Ala1425fs) rs2132579465
NM_001384140.1(PCDH15):c.4275A>C (p.Ala1425=) rs774100942
NM_001384140.1(PCDH15):c.4278G>A (p.Val1426=)
NM_001384140.1(PCDH15):c.4278G>T (p.Val1426=) rs2076761242
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.4281G>A (p.Pro1427=) rs1286261538
NM_001384140.1(PCDH15):c.4281G>C (p.Pro1427=)
NM_001384140.1(PCDH15):c.4284T>C (p.Ala1428=)
NM_001384140.1(PCDH15):c.4289_4319del (p.Ala1430fs)
NM_001384140.1(PCDH15):c.428A>G (p.Asn143Ser)
NM_001384140.1(PCDH15):c.4290A>C (p.Ala1430=) rs1472367791
NM_001384140.1(PCDH15):c.4290A>G (p.Ala1430=)
NM_001384140.1(PCDH15):c.4292C>T (p.Pro1431Leu) rs2132578931
NM_001384140.1(PCDH15):c.4293A>C (p.Pro1431=)
NM_001384140.1(PCDH15):c.4293A>G (p.Pro1431=)
NM_001384140.1(PCDH15):c.4296G>A (p.Val1432=)
NM_001384140.1(PCDH15):c.4299A>G (p.Ala1433=) rs1588968218
NM_001384140.1(PCDH15):c.42G>A (p.Gly14=)
NM_001384140.1(PCDH15):c.42G>C (p.Gly14=) rs1043975803
NM_001384140.1(PCDH15):c.42G>T (p.Gly14=) rs1043975803
NM_001384140.1(PCDH15):c.4302G>T (p.Ala1434=)
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser) rs766039931
NM_001384140.1(PCDH15):c.4305C>G (p.Pro1435=)
NM_001384140.1(PCDH15):c.4305C>T (p.Pro1435=) rs2076757559
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.4308G>A (p.Pro1436=) rs1160719926
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=) rs1160719926
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[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=) rs949983423
NM_001384140.1(PCDH15):c.4311G>T (p.Pro1437=)
NM_001384140.1(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_001384140.1(PCDH15):c.4314G>C (p.Pro1438=)
NM_001384140.1(PCDH15):c.4314G>T (p.Pro1438=) rs535913178
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.4323T>G (p.Pro1441=) rs570029304
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.4326G>T (p.Pro1442=) rs1588967678
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu) rs767761740
NM_001384140.1(PCDH15):c.4329A>G (p.Pro1443=) rs369289143
NM_001384140.1(PCDH15):c.432A>T (p.Ser144=) rs2134713953
NM_001384140.1(PCDH15):c.4335G>C (p.Ala1445=) rs570557379
NM_001384140.1(PCDH15):c.4341C>A (p.Leu1447=)
NM_001384140.1(PCDH15):c.4341C>T (p.Leu1447=) rs2076751499
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser) rs397517459
NM_001384140.1(PCDH15):c.4344T>C (p.Tyr1448=)
NM_001384140.1(PCDH15):c.4349_4352dup (p.Gly1452fs) rs2132576827
NM_001384140.1(PCDH15):c.4350A>G (p.Glu1450=) rs1243436079
NM_001384140.1(PCDH15):c.435C>T (p.Pro145=)
NM_001384140.1(PCDH15):c.4360A>C (p.Ser1454Arg) rs144616228
NM_001384140.1(PCDH15):c.4365A>G (p.Ser1455=)
NM_001384140.1(PCDH15):c.4367+10C>A
NM_001384140.1(PCDH15):c.4367+10C>T
NM_001384140.1(PCDH15):c.4367+12G>A
NM_001384140.1(PCDH15):c.4367+12G>T
NM_001384140.1(PCDH15):c.4367+15C>G
NM_001384140.1(PCDH15):c.4367+15C>T
NM_001384140.1(PCDH15):c.4367+18G>C
NM_001384140.1(PCDH15):c.4367+18del
NM_001384140.1(PCDH15):c.4367+19A>G
NM_001384140.1(PCDH15):c.4367+2262_4367+2265del rs531963480
NM_001384140.1(PCDH15):c.4367+4_4367+7dup rs2076748483
NM_001384140.1(PCDH15):c.4367+6T>C
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) rs2076749331
NM_001384140.1(PCDH15):c.4368-3138T>C rs1270575255
NM_001384140.1(PCDH15):c.4368-3139TTTC[3] rs764494096
NM_001384140.1(PCDH15):c.4368-3141_4368-3139del
NM_001384140.1(PCDH15):c.4368-3142TCTTT[3] rs1452730552
NM_001384140.1(PCDH15):c.4368-3146A>G
NM_001384140.1(PCDH15):c.4368-3146A>T
NM_001384140.1(PCDH15):c.4368-3150_4368-3132dup rs2076440717
NM_001384140.1(PCDH15):c.4368-3155_4368-3147del
NM_001384140.1(PCDH15):c.444G>A (p.Lys148=)
NM_001384140.1(PCDH15):c.446A>C (p.His149Pro)
NM_001384140.1(PCDH15):c.451A>G (p.Ser151Gly) rs373042793
NM_001384140.1(PCDH15):c.453C>T (p.Ser151=)
NM_001384140.1(PCDH15):c.459T>C (p.Tyr153=)
NM_001384140.1(PCDH15):c.461C>A (p.Ala154Asp)
NM_001384140.1(PCDH15):c.4626T>C (p.Tyr1542=) rs1588880146
NM_001384140.1(PCDH15):c.462C>T (p.Ala154=) rs1344094704
NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del) rs561144747
NM_001384140.1(PCDH15):c.465A>G (p.Thr155=) rs559193058
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1067G>A rs543196211
NM_001384140.1(PCDH15):c.4671+1396A>G rs776020523
NM_001384140.1(PCDH15):c.4671+1552A>G
NM_001384140.1(PCDH15):c.4672-1672C>T
NM_001384140.1(PCDH15):c.468G>A (p.Val156=)
NM_001384140.1(PCDH15):c.468G>T (p.Val156=)
NM_001384140.1(PCDH15):c.472G>T (p.Glu158Ter)
NM_001384140.1(PCDH15):c.474+12T>C
NM_001384140.1(PCDH15):c.474+17T>C
NM_001384140.1(PCDH15):c.474+20C>A
NM_001384140.1(PCDH15):c.474+20C>G
NM_001384140.1(PCDH15):c.474+9C>A
NM_001384140.1(PCDH15):c.475-14T>C
NM_001384140.1(PCDH15):c.475-14dup rs1157582942
NM_001384140.1(PCDH15):c.475-16T>C
NM_001384140.1(PCDH15):c.475-18A>T
NM_001384140.1(PCDH15):c.475-2A>C
NM_001384140.1(PCDH15):c.475-2A>G
NM_001384140.1(PCDH15):c.475-4T>G
NM_001384140.1(PCDH15):c.475-7del rs2134177123
NM_001384140.1(PCDH15):c.475-9T>A
NM_001384140.1(PCDH15):c.475-9del rs1157582942
NM_001384140.1(PCDH15):c.47T>C (p.Ile16Thr)
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.519C>T (p.Asp173=)
NM_001384140.1(PCDH15):c.522T>C (p.Asn174=)
NM_001384140.1(PCDH15):c.536T>C (p.Ile179Thr) rs750822290
NM_001384140.1(PCDH15):c.541G>A (p.Asp181Asn)
NM_001384140.1(PCDH15):c.546A>T (p.Gly182=)
NM_001384140.1(PCDH15):c.548C>A (p.Pro183Gln)
NM_001384140.1(PCDH15):c.54_55inv (p.Ser19Ala)
NM_001384140.1(PCDH15):c.555A>G (p.Gly185=)
NM_001384140.1(PCDH15):c.55T>A (p.Ser19Thr)
NM_001384140.1(PCDH15):c.561dup (p.Glu188fs) rs2134175729
NM_001384140.1(PCDH15):c.567T>A (p.Tyr189Ter) rs1943288780
NM_001384140.1(PCDH15):c.567T>C (p.Tyr189=)
NM_001384140.1(PCDH15):c.573T>C (p.Ile191=)
NM_001384140.1(PCDH15):c.576G>A (p.Gln192=)
NM_001384140.1(PCDH15):c.57T>G (p.Ser19=)
NM_001384140.1(PCDH15):c.582T>C (p.Asn194=)
NM_001384140.1(PCDH15):c.594+12C>G
NM_001384140.1(PCDH15):c.594+12C>T
NM_001384140.1(PCDH15):c.594+19G>A
NM_001384140.1(PCDH15):c.594+20C>T
NM_001384140.1(PCDH15):c.594+9A>G
NM_001384140.1(PCDH15):c.595-13T>G
NM_001384140.1(PCDH15):c.595-15C>G
NM_001384140.1(PCDH15):c.595-2A>C rs1939028166
NM_001384140.1(PCDH15):c.595-4G>T rs1939028582
NM_001384140.1(PCDH15):c.595-8A>T
NM_001384140.1(PCDH15):c.595-9T>A rs767505392
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.606C>T (p.Asp202=) rs1939021574
NM_001384140.1(PCDH15):c.609C>T (p.Thr203=) rs762859513
NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) rs2135421905
NM_001384140.1(PCDH15):c.610T>A (p.Phe204Ile)
NM_001384140.1(PCDH15):c.617_618del (p.Ile206fs) rs2133883986
NM_001384140.1(PCDH15):c.618T>A (p.Ile206=)
NM_001384140.1(PCDH15):c.619C>T (p.Pro207Ser) rs776708410
NM_001384140.1(PCDH15):c.621C>G (p.Pro207=) rs2133883807
NM_001384140.1(PCDH15):c.626T>C (p.Met209Thr)
NM_001384140.1(PCDH15):c.628T>C (p.Leu210=) rs1159090797
NM_001384140.1(PCDH15):c.639T>G (p.Asn213Lys) rs2133883377
NM_001384140.1(PCDH15):c.63T>C (p.Phe21=)
NM_001384140.1(PCDH15):c.642A>C (p.Ile214=) rs1191388453
NM_001384140.1(PCDH15):c.649A>G (p.Arg217Gly)
NM_001384140.1(PCDH15):c.657G>A (p.Arg219=)
NM_001384140.1(PCDH15):c.665A>G (p.Tyr222Cys) rs755845400
NM_001384140.1(PCDH15):c.669A>C (p.Glu223Asp)
NM_001384140.1(PCDH15):c.672T>C (p.Asp224=)
NM_001384140.1(PCDH15):c.675G>C (p.Lys225Asn) rs1403705158
NM_001384140.1(PCDH15):c.678T>G (p.Thr226=) rs759127233
NM_001384140.1(PCDH15):c.680G>T (p.Arg227Leu) rs766401854
NM_001384140.1(PCDH15):c.693A>T (p.Ile231=)
NM_001384140.1(PCDH15):c.695T>C (p.Ile232Thr)
NM_001384140.1(PCDH15):c.699A>G (p.Gln233=)
NM_001384140.1(PCDH15):c.6T>C (p.Phe2=)
NM_001384140.1(PCDH15):c.705+10C>T rs893600821
NM_001384140.1(PCDH15):c.705+19T>C
NM_001384140.1(PCDH15):c.705+19_705+29del
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=) rs112059717
NM_001384140.1(PCDH15):c.706-10T>C rs2061347468
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068
NM_001384140.1(PCDH15):c.706-20T>C
NM_001384140.1(PCDH15):c.706-20T>G
NM_001384140.1(PCDH15):c.706-21_706-19del rs2061348145
NM_001384140.1(PCDH15):c.706-2A>G
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.706-8_706-7delinsTT
NM_001384140.1(PCDH15):c.706-9_706-8delinsGT rs2133653994
NM_001384140.1(PCDH15):c.708C>T (p.Asp236=)
NM_001384140.1(PCDH15):c.709C>A (p.Arg237Ser)
NM_001384140.1(PCDH15):c.710G>A (p.Arg237His)
NM_001384140.1(PCDH15):c.711T>C (p.Arg237=)
NM_001384140.1(PCDH15):c.712G>A (p.Ala238Thr) rs957945054
NM_001384140.1(PCDH15):c.71G>C (p.Cys24Ser)
NM_001384140.1(PCDH15):c.721C>T (p.Leu241=) rs2133653335
NM_001384140.1(PCDH15):c.723G>C (p.Leu241=)
NM_001384140.1(PCDH15):c.729G>A (p.Glu243=)
NM_001384140.1(PCDH15):c.732G>A (p.Arg244=)
NM_001384140.1(PCDH15):c.734G>T (p.Arg245Leu)
NM_001384140.1(PCDH15):c.738C>A (p.Thr246=)
NM_001384140.1(PCDH15):c.738C>T (p.Thr246=)
NM_001384140.1(PCDH15):c.741C>T (p.Thr247=)
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>A (p.Leu25=)
NM_001384140.1(PCDH15):c.75G>C (p.Leu25Phe)
NM_001384140.1(PCDH15):c.765T>C (p.Val255=) rs2133651808
NM_001384140.1(PCDH15):c.787C>T (p.Pro263Ser) rs2133651169
NM_001384140.1(PCDH15):c.789A>C (p.Pro263=) rs1221887715
NM_001384140.1(PCDH15):c.790A>T (p.Met264Leu) rs895994892
NM_001384140.1(PCDH15):c.804T>A (p.Cys268Ter)
NM_001384140.1(PCDH15):c.805G>A (p.Val269Ile) rs2061340191
NM_001384140.1(PCDH15):c.809T>C (p.Leu270Pro)
NM_001384140.1(PCDH15):c.810T>C (p.Leu270=)
NM_001384140.1(PCDH15):c.813G>C (p.Val271=)
NM_001384140.1(PCDH15):c.819C>T (p.Asn273=) rs2133649647
NM_001384140.1(PCDH15):c.81G>A (p.Gln27=) rs2135421575
NM_001384140.1(PCDH15):c.822T>G (p.Thr274=) rs2133649478
NM_001384140.1(PCDH15):c.823C>T (p.Arg275Cys)
NM_001384140.1(PCDH15):c.831C>T (p.Cys277=) rs2061337391
NM_001384140.1(PCDH15):c.837A>T (p.Pro279=)
NM_001384140.1(PCDH15):c.838C>G (p.Leu280Val)
NM_001384140.1(PCDH15):c.840C>T (p.Leu280=)
NM_001384140.1(PCDH15):c.846T>C (p.Tyr282=)
NM_001384140.1(PCDH15):c.84dup (p.Asp29Ter) rs2135421507
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.865T>C (p.Leu289=)
NM_001384140.1(PCDH15):c.866T>C (p.Leu289Ser)
NM_001384140.1(PCDH15):c.873T>C (p.Thr291=) rs200316258
NM_001384140.1(PCDH15):c.873T>G (p.Thr291=)
NM_001384140.1(PCDH15):c.875C>T (p.Pro292Leu)
NM_001384140.1(PCDH15):c.876+12C>G
NM_001384140.1(PCDH15):c.876+12C>T
NM_001384140.1(PCDH15):c.876+14T>C
NM_001384140.1(PCDH15):c.876+14T>G
NM_001384140.1(PCDH15):c.876+15A>C
NM_001384140.1(PCDH15):c.876+16T>C
NM_001384140.1(PCDH15):c.876+17C>A
NM_001384140.1(PCDH15):c.876+17C>G
NM_001384140.1(PCDH15):c.876+17C>T
NM_001384140.1(PCDH15):c.876+7A>G rs1435301478
NM_001384140.1(PCDH15):c.876+9A>T
NM_001384140.1(PCDH15):c.876G>A (p.Pro292=)
NM_001384140.1(PCDH15):c.877-11T>C
NM_001384140.1(PCDH15):c.877-12dup rs200395027
NM_001384140.1(PCDH15):c.877-15T>A
NM_001384140.1(PCDH15):c.877-15dup
NM_001384140.1(PCDH15):c.877-16T>C
NM_001384140.1(PCDH15):c.877-17C>G
NM_001384140.1(PCDH15):c.877-18_877-15del
NM_001384140.1(PCDH15):c.877-19C>A
NM_001384140.1(PCDH15):c.877-20T>C
NM_001384140.1(PCDH15):c.877-21CT[2]
NM_001384140.1(PCDH15):c.877-4del rs200395027
NM_001384140.1(PCDH15):c.877-5_877-4del rs200395027
NM_001384140.1(PCDH15):c.877-8T>C rs770813649
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_001384140.1(PCDH15):c.905C>G (p.Pro302Arg) rs2134389343
NM_001384140.1(PCDH15):c.908C>A (p.Pro303Gln)
NM_001384140.1(PCDH15):c.909A>T (p.Pro303=)
NM_001384140.1(PCDH15):c.91+15A>G
NM_001384140.1(PCDH15):c.91+15A>T
NM_001384140.1(PCDH15):c.91+16G>T
NM_001384140.1(PCDH15):c.91+1G>A rs1565887701
NM_001384140.1(PCDH15):c.91+5G>A
NM_001384140.1(PCDH15):c.912C>T (p.Ile304=) rs2134389217
NM_001384140.1(PCDH15):c.921T>C (p.Ile307=) rs2134389014
NM_001384140.1(PCDH15):c.922G>T (p.Asp308Tyr) rs2054681160
NM_001384140.1(PCDH15):c.925C>G (p.Gln309Glu)
NM_001384140.1(PCDH15):c.931C>A (p.Arg311=) rs935278110
NM_001384140.1(PCDH15):c.933G>C (p.Arg311=) rs775730183
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.945G>A (p.Pro315=) rs150450873
NM_001384140.1(PCDH15):c.951A>C (p.Ser317=)
NM_001384140.1(PCDH15):c.957G>A (p.Arg319=) rs372100223
NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs) rs1264391272
NM_001384140.1(PCDH15):c.973dup (p.Ser325fs)
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_001384140.1(PCDH15):c.975del (p.Ile326fs)
NM_001384140.1(PCDH15):c.980T>A (p.Leu327His)
NM_001384140.1(PCDH15):c.985+10T>G rs1406354205
NM_001384140.1(PCDH15):c.985+12A>C
NM_001384140.1(PCDH15):c.985+12A>G
NM_001384140.1(PCDH15):c.985+16C>T
NM_001384140.1(PCDH15):c.985+19T>G
NM_001384140.1(PCDH15):c.985+1G>C rs2134387647
NM_001384140.1(PCDH15):c.985_985+3del
NM_001384140.1(PCDH15):c.986-10T>C
NM_001384140.1(PCDH15):c.986-7C>T rs915988368
NM_001384140.1(PCDH15):c.986-8T>C
NM_001384140.1(PCDH15):c.987G>C (p.Gly329=) rs2051733669
NM_001384140.1(PCDH15):c.996_999del (p.Glu332fs) rs2134108223
NM_001384140.1(PCDH15):c.998A>C (p.Asp333Ala) rs1294214109
NM_001384140.1(PCDH15):c.999T>C (p.Asp333=)
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4368-2A>G
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4369dup rs866966373
NM_033056.4(PCDH15):c.4368-3_4373dup
NM_033056.4(PCDH15):c.4369_4372dup (p.Phe1458fs) rs754624281
NM_033056.4(PCDH15):c.4372_4390dup (p.Gln1464fs)
NM_033056.4(PCDH15):c.4380C>T (p.Leu1460=) rs2132512661
NM_033056.4(PCDH15):c.4382_4385dup (p.His1462fs)
NM_033056.4(PCDH15):c.4383C>G (p.Tyr1461Ter)
NM_033056.4(PCDH15):c.4386T>C (p.His1462=)
NM_033056.4(PCDH15):c.4398_4414del (p.Arg1467fs)
NM_033056.4(PCDH15):c.4399A>C (p.Arg1467=) rs2132512361
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.4406_4409dup (p.Asn1470delinsLysTer) rs2076434973
NM_033056.4(PCDH15):c.4408_4468dup (p.Ile1490fs)
NM_033056.4(PCDH15):c.4408_4470dup (p.Ile1490_Glu1491insAsnSerValSerGluAspArgLysHisGlnGlnValValMetProPheSerSerAsnThrIle)
NM_033056.4(PCDH15):c.4409_4413del (p.Asn1470fs) rs749884609
NM_033056.4(PCDH15):c.4410C>T (p.Asn1470=) rs750771419
NM_033056.4(PCDH15):c.4410_4413dup (p.Val1472fs)
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4411_4412dup (p.Val1472fs) rs2132512042
NM_033056.4(PCDH15):c.4415del (p.Val1472fs)
NM_033056.4(PCDH15):c.4416C>T (p.Val1472=)
NM_033056.4(PCDH15):c.4419A>G (p.Ser1473=)
NM_033056.4(PCDH15):c.4422A>G (p.Glu1474=) rs779162594
NM_033056.4(PCDH15):c.4429A>C (p.Lys1477Gln) rs2132511638
NM_033056.4(PCDH15):c.4437A>G (p.Gln1479=) rs141623033
NM_033056.4(PCDH15):c.4437_4452dup (p.Phe1485fs)
NM_033056.4(PCDH15):c.4461C>T (p.Ser1487=) rs2132511167
NM_033056.4(PCDH15):c.4462_4468dup (p.Ile1490fs)
NM_033056.4(PCDH15):c.4462_4470dup (p.Ile1490_Glu1491insAsnThrIle)
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4464T>C (p.Asn1488=) rs1308744253
NM_033056.4(PCDH15):c.4466C>G (p.Thr1489Ser)
NM_033056.4(PCDH15):c.4467T>C (p.Thr1489=)
NM_033056.4(PCDH15):c.4482_4506dup (p.Lys1503delinsValSerSerCysArgArgIleThrTer)
NM_033056.4(PCDH15):c.4487C>T (p.Ala1496Val) rs2076426919
NM_033056.4(PCDH15):c.4489_4508dup (p.Lys1503delinsAsnMetTer)
NM_033056.4(PCDH15):c.4494A>G (p.Val1498=) rs2132510470
NM_033056.4(PCDH15):c.4498G>A (p.Gly1500Arg)
NM_033056.4(PCDH15):c.4503A>T (p.Ser1501=) rs757624135
NM_033056.4(PCDH15):c.4504C>T (p.Leu1502Phe)
NM_033056.4(PCDH15):c.4513_4571del (p.Asn1505fs)
NM_033056.4(PCDH15):c.4523A>C (p.Lys1508Thr)
NM_033056.4(PCDH15):c.4523_4526dup (p.Ala1510fs) rs1554820966
NM_033056.4(PCDH15):c.4533A>G (p.Arg1511=) rs2132509693
NM_033056.4(PCDH15):c.4536A>G (p.Lys1512=)
NM_033056.4(PCDH15):c.4536dup (p.Phe1513fs)
NM_033056.4(PCDH15):c.4539C>T (p.Phe1513=) rs2132509488
NM_033056.4(PCDH15):c.4546_4565dup (p.Leu1522fs)
NM_033056.4(PCDH15):c.4548A>G (p.Leu1516=) rs2132509375
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.4550C>T (p.Ser1517Phe)
NM_033056.4(PCDH15):c.4551T>G (p.Ser1517=)
NM_033056.4(PCDH15):c.4552G>T (p.Asp1518Tyr)
NM_033056.4(PCDH15):c.4554T>C (p.Asp1518=)
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.4559del (p.Asp1520fs)
NM_033056.4(PCDH15):c.4560T>A (p.Asp1520Glu)
NM_033056.4(PCDH15):c.4560T>C (p.Asp1520=) rs1588940483
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4566_4569dup (p.Ala1524fs) rs2132508767
NM_033056.4(PCDH15):c.4581C>T (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.4583T>C (p.Leu1528Pro) rs2132508490
NM_033056.4(PCDH15):c.4587T>C (p.Tyr1529=)
NM_033056.4(PCDH15):c.4591G>T (p.Glu1531Ter) rs867154687
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=) rs2076416258
NM_033056.4(PCDH15):c.4596_4599dup (p.Ser1534fs)
NM_033056.4(PCDH15):c.4596_4600dup (p.Ser1534delinsThrTer) rs2132508266
NM_033056.4(PCDH15):c.4599A>C (p.Ile1533=)
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4616_4647dup (p.Asp1550delinsIleGlnThrPheHisArgGluGlnIleLeuTer) rs779857486
NM_033056.4(PCDH15):c.4617T>C (p.Asn1539=) rs2132507782
NM_033056.4(PCDH15):c.4618T>A (p.Ser1540Thr)
NM_033056.4(PCDH15):c.4630_4631del (p.Gln1544fs)
NM_033056.4(PCDH15):c.4644dup (p.Val1549fs) rs1564538809
NM_033056.4(PCDH15):c.4647A>T (p.Val1549=) rs2132507343
NM_033056.4(PCDH15):c.4650C>T (p.Asp1550=) rs2132507285
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu) rs765129268
NM_033056.4(PCDH15):c.4656T>C (p.Phe1552=) rs2132507097
NM_033056.4(PCDH15):c.4662C>G (p.Pro1554=)
NM_033056.4(PCDH15):c.4667T>C (p.Ile1556Thr)
NM_033056.4(PCDH15):c.4679G>C (p.Ser1560Thr)
NM_033056.4(PCDH15):c.4680T>C (p.Ser1560=)
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4685_4688dup (p.Arg1564fs) rs1346160987
NM_033056.4(PCDH15):c.4686T>G (p.Ser1562=)
NM_033056.4(PCDH15):c.4689G>C (p.Leu1563=) rs2132506535
NM_033056.4(PCDH15):c.4689G>T (p.Leu1563=)
NM_033056.4(PCDH15):c.4693G>A (p.Gly1565Ser)
NM_033056.4(PCDH15):c.4700_4728dup (p.Ser1577fs)
NM_033056.4(PCDH15):c.4701A>G (p.Arg1567=) rs2132506199
NM_033056.4(PCDH15):c.4703A>G (p.Glu1568Gly)
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4716G>A (p.Arg1572=) rs2132505993
NM_033056.4(PCDH15):c.4719G>T (p.Leu1573=) rs529962978
NM_033056.4(PCDH15):c.4721G>A (p.Trp1574Ter)
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=) rs1564538186
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal) rs2076402324
NM_033056.4(PCDH15):c.4729_4736del (p.Ser1577fs)
NM_033056.4(PCDH15):c.4731A>G (p.Ser1577=) rs2132505619
NM_033056.4(PCDH15):c.4733_4734delinsCT (p.Val1578Ala) rs1588938389
NM_033056.4(PCDH15):c.4733_4736del (p.Val1578fs)
NM_033056.4(PCDH15):c.4736G>A (p.Ser1579Asn)
NM_033056.4(PCDH15):c.4738_4816del (p.Leu1580fs)
NM_033056.4(PCDH15):c.4740A>G (p.Leu1580=)
NM_033056.4(PCDH15):c.4761A>G (p.Lys1587=) rs2076400191
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.4782C>T (p.Ile1594=)
NM_033056.4(PCDH15):c.4791G>A (p.Leu1597=)
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.4797G>C (p.Gln1599His) rs563147370
NM_033056.4(PCDH15):c.4806C>A (p.Gly1602=)
NM_033056.4(PCDH15):c.4812G>A (p.Arg1604=)
NM_033056.4(PCDH15):c.4821T>C (p.Ala1607=)
NM_033056.4(PCDH15):c.4827T>C (p.Asn1609=) rs750801092
NM_033056.4(PCDH15):c.4830A>G (p.Glu1610=)
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4835C>G (p.Thr1612Ser) rs1395111195
NM_033056.4(PCDH15):c.4836T>G (p.Thr1612=)
NM_033056.4(PCDH15):c.4836_4837del (p.Gly1613fs) rs2132503591
NM_033056.4(PCDH15):c.4840A>C (p.Ile1614Leu) rs2132503430
NM_033056.4(PCDH15):c.4840dup (p.Ile1614fs) rs2132503466
NM_033056.4(PCDH15):c.4844G>A (p.Cys1615Tyr)
NM_033056.4(PCDH15):c.4847C>T (p.Thr1616Ile)
NM_033056.4(PCDH15):c.4851_4854dup (p.Arg1619fs) rs778355226
NM_033056.4(PCDH15):c.4854_4857dup (p.Gly1620fs)
NM_033056.4(PCDH15):c.4866C>T (p.Ser1622=) rs2076390429
NM_033056.4(PCDH15):c.4869T>C (p.Asn1623=) rs1468408352
NM_033056.4(PCDH15):c.4872A>G (p.Pro1624=) rs2132502770
NM_033056.4(PCDH15):c.4872A>T (p.Pro1624=) rs2132502770
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4878T>G (p.Leu1626=) rs2132502701
NM_033056.4(PCDH15):c.4881A>C (p.Thr1627=) rs1588936896
NM_033056.4(PCDH15):c.4887A>G (p.Glu1629=)
NM_033056.4(PCDH15):c.4895_4897dup (p.Asn1632_Leu1633insTyr) rs1554820541
NM_033056.4(PCDH15):c.4895_4923del (p.Asn1632fs) rs2132501592
NM_033056.4(PCDH15):c.4897T>C (p.Leu1633=) rs952697934
NM_033056.4(PCDH15):c.4897_4909dup (p.Glu1637fs)
NM_033056.4(PCDH15):c.4899G>A (p.Leu1633=) rs1468084834
NM_033056.4(PCDH15):c.4901_4902insGAGGCAATCCATTGCTTACAACTGA (p.Thr1634_Glu1635insArgGlnSerIleAlaTyrAsnTer)
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
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.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4907_4910dup (p.Glu1638fs)
NM_033056.4(PCDH15):c.4908A>G (p.Lys1636=) rs2132501946
NM_033056.4(PCDH15):c.4915A>G (p.Ile1639Val)
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4920G>A (p.Arg1640=)
NM_033056.4(PCDH15):c.4920G>T (p.Arg1640Ser) rs2132501686
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4923del (p.Gly1642fs) rs756807938
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup) rs758259410
NM_033056.4(PCDH15):c.4929_4932dup (p.Leu1645fs)
NM_033056.4(PCDH15):c.4935G>T (p.Leu1645=)
NM_033056.4(PCDH15):c.4941_4944del (p.Ile1647fs) rs2132500986
NM_033056.4(PCDH15):c.4944A>C (p.Glu1648Asp) rs2132500951
NM_033056.4(PCDH15):c.4945G>T (p.Gly1649Ter) rs777414603
NM_033056.4(PCDH15):c.4946del (p.Gly1649fs)
NM_033056.4(PCDH15):c.4954C>T (p.Gln1652Ter)
NM_033056.4(PCDH15):c.4964C>G (p.Ser1655Cys)
NM_033056.4(PCDH15):c.4965T>C (p.Ser1655=)
NM_033056.4(PCDH15):c.4965T>G (p.Ser1655=) rs1007918323
NM_033056.4(PCDH15):c.4968_4971del (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4970C>T (p.Ser1657Phe) rs2132500236
NM_033056.4(PCDH15):c.4970_4971del (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4971T>A (p.Ser1657=) rs1564536472
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4974A>T (p.Ser1658=) rs147993163
NM_033056.4(PCDH15):c.4975_4976del (p.Asp1659fs) rs776857646
NM_033056.4(PCDH15):c.4978T>C (p.Ser1660Pro)
NM_033056.4(PCDH15):c.4980T>C (p.Ser1660=) rs2132499824
NM_033056.4(PCDH15):c.4983A>G (p.Ser1661=) rs1231967235
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.4989C>T (p.Cys1663=) rs2132499636
NM_033056.4(PCDH15):c.4995C>G (p.Pro1665=)
NM_033056.4(PCDH15):c.5007C>T (p.Phe1669=) rs2132499389
NM_033056.4(PCDH15):c.5009C>A (p.Ser1670Ter)
NM_033056.4(PCDH15):c.5016C>T (p.Ser1672=) rs2132499146
NM_033056.4(PCDH15):c.5020_5042dup (p.Glu1682fs)
NM_033056.4(PCDH15):c.5021T>A (p.Leu1674Ter)
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5033C>G (p.Ser1678Ter)
NM_033056.4(PCDH15):c.5039del (p.Thr1680fs) rs2132498817
NM_033056.4(PCDH15):c.5046del (p.Glu1682fs)
NM_033056.4(PCDH15):c.5049C>T (p.Leu1683=)
NM_033056.4(PCDH15):c.5053T>C (p.Ser1685Pro)
NM_033056.4(PCDH15):c.5055A>G (p.Ser1685=) rs773237139
NM_033056.4(PCDH15):c.5061T>C (p.Pro1687=)
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5064T>C (p.Asn1688=)
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.5076T>C (p.Ser1692=) rs780860319
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) rs2076368967
NM_033056.4(PCDH15):c.5079T>C (p.Pro1693=)
NM_033056.4(PCDH15):c.5084A>C (p.Glu1695Ala)
NM_033056.4(PCDH15):c.5086T>G (p.Cys1696Gly)
NM_033056.4(PCDH15):c.5091C>T (p.Ser1697=) rs2132497687
NM_033056.4(PCDH15):c.5092T>C (p.Leu1698=)
NM_033056.4(PCDH15):c.5094_5137dup (p.Ser1713fs)
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs) rs918473867
NM_033056.4(PCDH15):c.5108C>T (p.Ser1703Leu) rs2132497440
NM_033056.4(PCDH15):c.5118T>A (p.Cys1706Ter) rs1171529835
NM_033056.4(PCDH15):c.5125C>T (p.His1709Tyr)
NM_033056.4(PCDH15):c.5133A>G (p.Ser1711=)
NM_033056.4(PCDH15):c.5136C>T (p.Leu1712=)
NM_033056.4(PCDH15):c.5136_5139dup (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5138C>G (p.Ser1713Cys)
NM_033056.4(PCDH15):c.5138_5139del (p.Leu1712_Ser1713insTer)
NM_033056.4(PCDH15):c.5141G>A (p.Arg1714Lys)
NM_033056.4(PCDH15):c.5145A>G (p.Arg1715=) rs2132496687
NM_033056.4(PCDH15):c.5148_5149del (p.Glu1716fs)
NM_033056.4(PCDH15):c.5151A>C (p.Thr1717=) rs2076362718
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.5155_5158dup (p.Cys1720fs) rs2132496410
NM_033056.4(PCDH15):c.5159G>T (p.Cys1720Phe)
NM_033056.4(PCDH15):c.5160T>C (p.Cys1720=)
NM_033056.4(PCDH15):c.5177C>T (p.Thr1726Ile) rs772619593
NM_033056.4(PCDH15):c.5183G>T (p.Arg1728Ile)
NM_033056.4(PCDH15):c.5193T>C (p.Phe1731=)
NM_033056.4(PCDH15):c.5201T>C (p.Phe1734Ser)
NM_033056.4(PCDH15):c.5206C>T (p.His1736Tyr)
NM_033056.4(PCDH15):c.5207_5249dup (p.Pro1751fs)
NM_033056.4(PCDH15):c.5214A>G (p.Pro1738=) rs2132495405
NM_033056.4(PCDH15):c.5215_5218dup (p.Ile1740fs) rs2076357685
NM_033056.4(PCDH15):c.5217C>T (p.Asn1739=) rs2132495315
NM_033056.4(PCDH15):c.5220C>A (p.Ile1740=) rs2132495229
NM_033056.4(PCDH15):c.5220del (p.Ser1741fs)
NM_033056.4(PCDH15):c.5223T>A (p.Ser1741=) rs560837504
NM_033056.4(PCDH15):c.5223T>C (p.Ser1741=) rs560837504
NM_033056.4(PCDH15):c.5223T>G (p.Ser1741=) rs560837504
NM_033056.4(PCDH15):c.5225_5345dup (p.Ser1782_Pro1783insPheCysLeuSerProSerProSerSerSerTyrPheSerSerPheSerSerSerCysSerCysSerSerCysSerSerSerTer)
NM_033056.4(PCDH15):c.5227del (p.Ser1743fs) rs2132495057
NM_033056.4(PCDH15):c.5230_5294dup (p.Ala1766fs) rs2132492597
NM_033056.4(PCDH15):c.5241_5247del (p.Pro1748fs) rs2132494699
NM_033056.4(PCDH15):c.5245CCT[2] (p.Pro1751_Pro1752del)
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5245CCT[5] (p.Pro1752_Ile1753insPro)
NM_033056.4(PCDH15):c.5247del (p.Pro1750fs)
NM_033056.4(PCDH15):c.5249C>T (p.Pro1750Leu) rs2076355044
NM_033056.4(PCDH15):c.5252_5256del (p.Pro1751fs) rs2132494435
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5257_5260dup (p.Ser1754fs) rs2132494288
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268del (p.Ile1753_Pro1756del) rs756858099
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del) rs777129729
NM_033056.4(PCDH15):c.5257_5274del (p.Ile1753_Pro1758del) rs369404101
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5257_5280del (p.Ile1753_Pro1760del)
NM_033056.4(PCDH15):c.5257_5286del (p.Ile1753_Pro1762del)
NM_033056.4(PCDH15):c.5259_5271dup (p.Pro1758fs)
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5263CCT[1] (p.Pro1756del)
NM_033056.4(PCDH15):c.5265T>G (p.Pro1755=) rs2132494117
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5274del (p.Ser1757_Pro1758del) rs1564534452
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5270C>T (p.Ser1757Phe) rs2076351421
NM_033056.4(PCDH15):c.5271T>C (p.Ser1757=) rs2132493680
NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5355del (p.Pro1758_Ser1785del)
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del) rs761936890
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5280T>G (p.Pro1760=) rs557685402
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del) rs1554820012
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5281_5283del (p.Ala1761del) rs2132493064
NM_033056.4(PCDH15):c.5281_5292del (p.Ala1761_Pro1764del) rs397517465
NM_033056.4(PCDH15):c.5282_5308del (p.Ala1761_Pro1769del)
NM_033056.4(PCDH15):c.5283T>G (p.Ala1761=) rs375134176
NM_033056.4(PCDH15):c.5287G>C (p.Ala1763Pro) rs1020000476
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del) rs770671117
NM_033056.4(PCDH15):c.5290_5295del (p.Pro1764_Leu1765del) rs1191526555
NM_033056.4(PCDH15):c.5291C>T (p.Pro1764Leu)
NM_033056.4(PCDH15):c.5292T>A (p.Pro1764=)
NM_033056.4(PCDH15):c.5294T>A (p.Leu1765His) rs1564534077
NM_033056.4(PCDH15):c.5294_5302del (p.Leu1765_Pro1767del) rs557936064
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.5304T>G (p.Pro1768=)
NM_033056.4(PCDH15):c.5307_5342del (p.Asp1770_Pro1781del)
NM_033056.4(PCDH15):c.5310C>T (p.Asp1770=) rs2132491943
NM_033056.4(PCDH15):c.5323T>C (p.Ser1775Pro)
NM_033056.4(PCDH15):c.5323del (p.Ser1775fs) rs2132491717
NM_033056.4(PCDH15):c.5325_5332del (p.Leu1776fs)
NM_033056.4(PCDH15):c.5326C>T (p.Leu1776Phe)
NM_033056.4(PCDH15):c.5326_5327del (p.Leu1776fs)
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5332del (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5333del (p.Cys1778fs) rs2132491455
NM_033056.4(PCDH15):c.5334TCC[2] (p.Pro1781del) rs928313592
NM_033056.4(PCDH15):c.5338C>A (p.Pro1780Thr)
NM_033056.4(PCDH15):c.5340T>A (p.Pro1780=)
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.5347CCT[1] (p.Pro1784del) rs778824364
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5365del (p.Pro1784fs)
NM_033056.4(PCDH15):c.5351C>A (p.Pro1784His)
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5355_5371del (p.Ile1786fs)
NM_033056.4(PCDH15):c.5358C>T (p.Ile1786=) rs727503361
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
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.5379T>C (p.Pro1793=)
NM_033056.4(PCDH15):c.5379_5381del (p.Thr1794del) rs750633152
NM_033056.4(PCDH15):c.5382A>G (p.Thr1794=) rs1196821931
NM_033056.4(PCDH15):c.5388del (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5405C>T (p.Thr1802Met)
NM_033056.4(PCDH15):c.5406G>A (p.Thr1802=) rs534255804
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=) rs534255804
NM_033056.4(PCDH15):c.5411G>T (p.Gly1804Val)
NM_033056.4(PCDH15):c.5415C>T (p.Pro1805=) rs2132488606
NM_033056.4(PCDH15):c.5420C>A (p.Thr1807Lys) rs2076328131
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5424A>G (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5429T>G (p.Leu1810Arg) rs1299654125
NM_033056.4(PCDH15):c.5432T>C (p.Leu1811Pro)
NM_033056.4(PCDH15):c.5433A>G (p.Leu1811=) rs2132488162
NM_033056.4(PCDH15):c.5446A>C (p.Thr1816Pro)
NM_033056.4(PCDH15):c.5451T>C (p.Pro1817=) rs2132487761
NM_033056.4(PCDH15):c.5452C>T (p.Leu1818Phe)
NM_033056.4(PCDH15):c.5454T>C (p.Leu1818=)
NM_033056.4(PCDH15):c.5460A>G (p.Pro1820=)
NM_033056.4(PCDH15):c.5463A>G (p.Pro1821=)
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5469T>G (p.Pro1823=) rs1178030804
NM_033056.4(PCDH15):c.5472T>C (p.Ser1824=) rs2132487334
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5481C>A (p.Cys1827Ter)
NM_033056.4(PCDH15):c.5481C>T (p.Cys1827=) rs1588927571
NM_033056.4(PCDH15):c.5483C>T (p.Pro1828Leu)
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs) rs1564532058
NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5514A>G (p.Thr1838=) rs2132486411
NM_033056.4(PCDH15):c.5516_5517del (p.Glu1839fs) rs1564531908
NM_033056.4(PCDH15):c.5516_5519del (p.Glu1839fs)
NM_033056.4(PCDH15):c.5517G>A (p.Glu1839=) rs2132486345
NM_033056.4(PCDH15):c.5523_5526dup (p.Ile1843fs) rs1564531800
NM_033056.4(PCDH15):c.5532A>C (p.Thr1844=)
NM_033056.4(PCDH15):c.5533G>C (p.Gly1845Arg)
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=) rs767304005
NM_033056.4(PCDH15):c.5549C>T (p.Thr1850Ile) rs2076316565
NM_033056.4(PCDH15):c.5553C>T (p.Asn1851=)
NM_033056.4(PCDH15):c.5554T>C (p.Leu1852=)
NM_033056.4(PCDH15):c.5557A>T (p.Met1853Leu) rs145903555
NM_033056.4(PCDH15):c.5558T>C (p.Met1853Thr)
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.5572A>G (p.Ile1858Val) rs2076314128
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5574T>C (p.Ile1858=)
NM_033056.4(PCDH15):c.5577G>A (p.Lys1859=)
NM_033056.4(PCDH15):c.5580C>A (p.Ser1860=) rs1310758503
NM_033056.4(PCDH15):c.5580C>T (p.Ser1860=) rs1310758503
NM_033056.4(PCDH15):c.5584A>G (p.Met1862Val)
NM_033056.4(PCDH15):c.5592_5605dup (p.Thr1869fs) rs1432657780
NM_033056.4(PCDH15):c.5593C>T (p.Leu1865=)
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter) rs2076312170
NM_033056.4(PCDH15):c.5598A>G (p.Ser1866=) rs1564531423
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala) rs1420803454
NM_033056.4(PCDH15):c.5599A>T (p.Thr1867Ser)
NM_033056.4(PCDH15):c.5601A>G (p.Thr1867=)
NM_033056.4(PCDH15):c.5616_5619dup (p.Asp1874fs)
NM_033056.4(PCDH15):c.5618_5637dup (p.Lys1880fs) rs1347207661
NM_033056.4(PCDH15):c.5619A>C (p.Thr1873=) rs1326327098
NM_033056.4(PCDH15):c.5622C>T (p.Asp1874=)
NM_033056.4(PCDH15):c.5630G>A (p.Arg1877Lys)
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs) rs794727570
NM_033056.4(PCDH15):c.5636C>A (p.Pro1879Gln)
NM_033056.4(PCDH15):c.5646C>T (p.Ile1882=) rs1588925614
NM_033056.4(PCDH15):c.5649C>T (p.Leu1883=)
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del) rs771643291
NM_033056.4(PCDH15):c.5673_5676dup (p.Glu1893delinsThrTer)
NM_033056.4(PCDH15):c.5673_5697dup (p.Tyr1900delinsThrTer)
NM_033056.4(PCDH15):c.5675T>A (p.Leu1892His) rs2132483165
NM_033056.4(PCDH15):c.5680_5693dup (p.Asn1898delinsLysAsnGlnTer)
NM_033056.4(PCDH15):c.5683T>G (p.Ser1895Ala) rs759950014
NM_033056.4(PCDH15):c.5691T>C (p.Ala1897=)
NM_033056.4(PCDH15):c.5692_5695dup (p.Met1899fs) rs2132482863
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.5699dup (p.Tyr1900Ter)
NM_033056.4(PCDH15):c.5702_5705del (p.Ser1901fs)
NM_033056.4(PCDH15):c.5704C>T (p.Gln1902Ter) rs1198625899
NM_033056.4(PCDH15):c.5706_5709dup (p.Glu1904fs) rs2132482473
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.5715A>G (p.Lys1905=)
NM_033056.4(PCDH15):c.5715_5718del (p.Lys1905fs)
NM_033056.4(PCDH15):c.5716A>G (p.Asn1906Asp)
NM_033056.4(PCDH15):c.5716_5718del (p.Asn1906del)
NM_033056.4(PCDH15):c.5717del (p.Asn1906fs) rs778380770
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs) rs778380770
NM_033056.4(PCDH15):c.5719dup (p.Tyr1907fs) rs2132482108
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.5726G>T (p.Arg1909Leu) rs145851144
NM_033056.4(PCDH15):c.5727C>T (p.Arg1909=) rs2132481863
NM_033056.4(PCDH15):c.5733T>C (p.Asn1911=) rs2076298772
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.5757C>A (p.Cys1919Ter) rs2076296857
NM_033056.4(PCDH15):c.5757C>T (p.Cys1919=)
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.5764del (p.Glu1922fs)
NM_033056.4(PCDH15):c.5767_5781del (p.Val1923_Glu1927del) rs2132480966
NM_033056.4(PCDH15):c.5771C>T (p.Thr1924Ile)
NM_033056.4(PCDH15):c.5772A>T (p.Thr1924=) rs2132481049
NM_033056.4(PCDH15):c.5798dup (p.Asn1933fs)
NM_033056.4(PCDH15):c.5806_5809dup (p.Leu1937Ter)
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5814C>T (p.Asn1938=)
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.5823C>G (p.Val1941=)
NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys) rs200913448
NM_033056.4(PCDH15):c.5826G>A (p.Glu1942=) rs2076292138
NM_033056.4(PCDH15):c.5827G>A (p.Gly1943Arg)
NM_033056.4(PCDH15):c.5827G>T (p.Gly1943Ter)
NM_033056.4(PCDH15):c.5831C>A (p.Thr1944Asn)
NM_033056.4(PCDH15):c.5832T>C (p.Thr1944=) rs779724710
NM_033056.4(PCDH15):c.5835A>G (p.Glu1945=)
NM_033056.4(PCDH15):c.5843C>G (p.Ser1948Cys)
NM_033056.4(PCDH15):c.5847C>T (p.His1949=) rs778841983
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.5856T>G (p.Ser1952=) rs2132479533
NM_033056.4(PCDH15):c.5859T>C (p.Thr1953=)
NM_033056.4(PCDH15):c.5865G>A (p.Leu1955=)
NM_033056.4(PCDH15):c.5865G>C (p.Leu1955=) rs2132479403
NM_033056.4(PCDH15):c.5866T>G (p.Ter1956Glu) rs2132479377

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