ClinVar Miner

List of variants in gene PCDH15 studied for not specified

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Gene type:
ClinVar version:
Total variants: 278
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_001384140.1(PCDH15):c.3010-48G>A rs2593107 0.70086
NM_001384140.1(PCDH15):c.2751+37C>T rs3812658 0.59606
NM_001384140.1(PCDH15):c.3984-20C>T rs7089209 0.37411
NM_001384140.1(PCDH15):c.706-8= rs10740579 0.28394
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.319-31T>C rs11594958 0.20278
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro) rs17704703 0.20017
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.2751+43C>G rs2660169 0.16984
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_001384140.1(PCDH15):c.5124G>A (p.Lys1708=) rs74609306 0.02014
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.877-29G>T rs116339167 0.01544
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.-5A>G rs142016527 0.00570
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.4671+1087C>T rs12359240 0.00438
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.4860G>A (p.Thr1620=) rs148772706 0.00278
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_001384140.1(PCDH15):c.4671+1109C>T rs145418788 0.00208
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_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser) rs181306086 0.00140
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
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.4526A>G (p.Gln1509Arg) rs115559383 0.00065
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.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.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_001384140.1(PCDH15):c.4080G>A (p.Val1360=) rs111033499 0.00021
NM_001384140.1(PCDH15):c.4671+1642T>C rs182175548 0.00021
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.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_033056.4(PCDH15):c.4974A>C (p.Ser1658=) rs147993163 0.00017
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.4671+1223C>T rs566386133 0.00015
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579 0.00014
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_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.4671+1355A>G rs372184022 0.00011
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259 0.00010
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=) rs144955298 0.00010
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144 0.00010
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn) rs773599066 0.00009
NM_033056.4(PCDH15):c.5397C>T (p.Ser1799=) rs367881384 0.00009
NM_001384140.1(PCDH15):c.4317G>A (p.Pro1439=) rs370470900 0.00008
NM_001384140.1(PCDH15):c.195T>C (p.Thr65=) rs770371293 0.00007
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.3807-6T>G rs727504791 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384140.1(PCDH15):c.4671+1616G>A rs371191414 0.00006
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg) rs201496062 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568 0.00006
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 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_001384140.1(PCDH15):c.1141C>G (p.Leu381Val) rs373453298 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.3667A>T (p.Ile1223Phe) rs752490775 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_033056.4(PCDH15):c.4837G>A (p.Gly1613Arg) rs876657563 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 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.5614A>G (p.Lys1872Glu) rs147727092 0.00004
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser) rs373731707 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.3521G>A (p.Gly1174Asp) rs150387187 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.4758G>A (p.Gln1586=) rs368096085 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_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 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_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.369A>G (p.Lys123=) rs1317246200 0.00002
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508 0.00002
NM_001384140.1(PCDH15):c.4672-1586T>C rs572152722 0.00002
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala) rs200975767 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu) rs397517449 0.00001
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile) rs727505253 0.00001
NM_001384140.1(PCDH15):c.2092-6T>C rs780684363 0.00001
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys) rs753912234 0.00001
NM_001384140.1(PCDH15):c.2385A>G (p.Ala795=) rs61731362 0.00001
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453 0.00001
NM_001384140.1(PCDH15):c.3122+3A>G rs373365331 0.00001
NM_001384140.1(PCDH15):c.3195A>G (p.Gln1065=) rs776720353 0.00001
NM_001384140.1(PCDH15):c.3276T>C (p.Asn1092=) rs772160626 0.00001
NM_001384140.1(PCDH15):c.3374-7C>T rs377480411 0.00001
NM_001384140.1(PCDH15):c.3444C>T (p.Phe1148=) rs876657562 0.00001
NM_001384140.1(PCDH15):c.3501+13A>G rs727503365 0.00001
NM_001384140.1(PCDH15):c.3719T>A (p.Val1240Asp) rs397517458 0.00001
NM_001384140.1(PCDH15):c.4249G>A (p.Ala1417Thr) rs1284117885 0.00001
NM_001384140.1(PCDH15):c.4367+8G>A rs727504745 0.00001
NM_001384140.1(PCDH15):c.4671+1449_4671+1457dup rs752753497 0.00001
NM_001384140.1(PCDH15):c.4672-1689G>A rs185457086 0.00001
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala) rs751863041 0.00001
NM_033056.4(PCDH15):c.5334T>C (p.Cys1778=) rs727503362 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.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
GRCh37/hg19 10q21.1(chr10:54790789-56488063)x1
GRCh37/hg19 10q21.1(chr10:55199169-56857578)
NC_000010.10:g.(56138703_56287571)_(56287638_56423931)dup
NM_001384140.1(PCDH15):c.*14A>G rs876657950
NM_001384140.1(PCDH15):c.1045C>G (p.Leu349Val) rs1554841242
NM_001384140.1(PCDH15):c.1102G>A (p.Glu368Lys) rs1554833865
NM_001384140.1(PCDH15):c.1195A>G (p.Ser399Gly) rs199786639
NM_001384140.1(PCDH15):c.1537T>C (p.Ser513Pro) rs876657951
NM_001384140.1(PCDH15):c.1590+17_1590+21del rs202125339
NM_001384140.1(PCDH15):c.1590+20= rs7093302
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.169G>A (p.Val57Met) rs1589122156
NM_001384140.1(PCDH15):c.1784+11T>G rs769008985
NM_001384140.1(PCDH15):c.1917+13GT[10] rs5785040
NM_001384140.1(PCDH15):c.1998-13G>A rs727504616
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.2691G>C (p.Glu897Asp) rs876657952
NM_001384140.1(PCDH15):c.2721T>G (p.Pro907=) rs727504835
NM_001384140.1(PCDH15):c.2769T>C (p.Pro923=) rs727503366
NM_001384140.1(PCDH15):c.2859A>C (p.Ala953=) rs375965861
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.3327T>C (p.Ala1109=) rs1554871942
NM_001384140.1(PCDH15):c.3373+3A>G rs397517456
NM_001384140.1(PCDH15):c.3498G>A (p.Val1166=) rs1554852336
NM_001384140.1(PCDH15):c.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp) rs1564640040
NM_001384140.1(PCDH15):c.3585T>C (p.Phe1195=) rs397517457
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly) rs148046721
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4314G>A (p.Pro1438=) rs535913178
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser) rs397517459
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys) rs397517459
NM_001384140.1(PCDH15):c.4343_4344del (p.Leu1447_Tyr1448insTer) rs1588967380
NM_001384140.1(PCDH15):c.4368-3131A>C rs1564540949
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.466G>A (p.Val156Met) rs534173969
NM_001384140.1(PCDH15):c.4671+1033dup rs1554815895
NM_001384140.1(PCDH15):c.4671+1066_4671+1068del rs1554815871
NM_001384140.1(PCDH15):c.4671+1164_4671+1167del rs483353074
NM_001384140.1(PCDH15):c.4671+1206G>T rs1588875434
NM_001384140.1(PCDH15):c.4671+1256del rs1404094905
NM_001384140.1(PCDH15):c.4671+1344_4671+1345delinsCC rs1554815737
NM_001384140.1(PCDH15):c.4671+1345G>C rs531574437
NM_001384140.1(PCDH15):c.4671+1418T>C rs730880021
NM_001384140.1(PCDH15):c.4671+1595GAA[3] rs730880019
NM_001384140.1(PCDH15):c.4672-1607delinsAGT rs730880020
NM_001384140.1(PCDH15):c.4672-1657del rs876657949
NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup) rs143978284
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.895A>G (p.Ile299Val)
NM_001384140.1(PCDH15):c.947C>T (p.Pro316Leu) rs397517469
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe) rs145011716
NM_033056.3(PCDH15):c.1917+33_1917+34dup rs5785040
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=) rs140748627
NM_033056.4(PCDH15):c.4463A>G (p.Asn1488Ser) rs201534861
NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn) rs1377421029
NM_033056.4(PCDH15):c.4592A>G (p.Glu1531Gly) rs397517460
NM_033056.4(PCDH15):c.4599_4602dup (p.Gln1535fs) rs781231890
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4768A>G (p.Asn1590Asp) rs2132504927
NM_033056.4(PCDH15):c.4777_4801dup (p.Gln1601fs)
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4982C>A (p.Ser1661Ter) rs1287970288
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs) rs918473867
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5253_5266del (p.Pro1752fs) rs2132494091
NM_033056.4(PCDH15):c.5260TCTCCTCCT[1] (p.1754SPP[1]) rs727503363
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del) rs397517463
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
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.5294_5302del (p.Leu1765_Pro1767del) rs557936064
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5327_5335del (p.Leu1776_Cys1778del) rs397517467
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser) rs751914445
NM_033056.4(PCDH15):c.5346T>A (p.Ser1782=) rs397517468
NM_033056.4(PCDH15):c.5349T>G (p.Pro1783=) rs727505113
NM_033056.4(PCDH15):c.5352T>A (p.Pro1784=) rs727505100
NM_033056.4(PCDH15):c.5358C>A (p.Ile1786=) rs727503361
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr) rs727505235
NM_033056.4(PCDH15):c.5424A>C (p.Pro1808=) rs753289924
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790

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