NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)
|
rs181306086
|
0.00140
|
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.4526A>G (p.Gln1509Arg)
|
rs115559383
|
0.00065
|
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.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00026
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00024
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
NM_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.5048T>G (p.Leu1683Arg)
|
rs727504812
|
0.00016
|
NM_001384140.1(PCDH15):c.4671+1223C>T
|
rs566386133
|
0.00015
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
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_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00009
|
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.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_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.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.4864del (p.Ser1622fs)
|
rs1393195833
|
0.00004
|
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu)
|
rs143438666
|
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.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.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_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.4671+1559C>T
|
rs368397508
|
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.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.2354A>G (p.Tyr785Cys)
|
rs753912234
|
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.3374-7C>T
|
rs377480411
|
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.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.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(chr10:55199169-56857578)
|
|
|
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.169G>A (p.Val57Met)
|
rs1589122156
|
|
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.3373+3A>G
|
rs397517456
|
|
NM_001384140.1(PCDH15):c.3579A>C (p.Glu1193Asp)
|
rs1564640040
|
|
NM_001384140.1(PCDH15):c.4213C>G (p.Arg1405Gly)
|
rs148046721
|
|
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.466G>A (p.Val156Met)
|
rs534173969
|
|
NM_001384140.1(PCDH15):c.4671+1033dup
|
rs1554815895
|
|
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+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.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_033056.4(PCDH15):c.4368T>A (p.Ile1456=)
|
rs140748627
|
|
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.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.5253_5266del (p.Pro1752fs)
|
rs2132494091
|
|
NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)
|
rs397517463
|
|
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser)
|
rs751914445
|
|
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.5818_5820dup (p.Ile1940dup)
|
rs750168790
|
|