NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=)
|
rs27673
|
0.98545
|
NM_002693.3(POLG):c.2071-22T>C
|
rs2072267
|
0.56891
|
NM_002693.3(POLG):c.3483-19T>G
|
rs2307438
|
0.44213
|
NM_198859.4(PRICKLE2):c.259-6A>G
|
rs2306380
|
0.35289
|
NM_021830.5(TWNK):c.-605G>T
|
rs3740484
|
0.35155
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_002693.3(POLG):c.3105-36A>G
|
rs2246900
|
0.31986
|
NM_021830.5(TWNK):c.*766A>T
|
rs3740488
|
0.28823
|
NM_021830.5(TWNK):c.1593-5C>T
|
rs3740485
|
0.28642
|
NM_021830.5(TWNK):c.1593-3T>C
|
rs3740486
|
0.28631
|
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=)
|
rs17720698
|
0.24032
|
NM_021830.5(TWNK):c.*521C>G
|
rs11542131
|
0.08029
|
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=)
|
rs34460293
|
0.06381
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile)
|
rs17113613
|
0.04615
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)
|
rs116353694
|
0.01695
|
NM_021830.5(TWNK):c.*204G>A
|
rs61871507
|
0.01328
|
NM_002693.3(POLG):c.1586-5del
|
rs2307434
|
0.00891
|
NM_002693.3(POLG):c.2109C>A (p.Ala703=)
|
rs2307429
|
0.00845
|
NM_198859.4(PRICKLE2):c.144+10T>C
|
rs74535153
|
0.00794
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_021830.5(TWNK):c.-650A>G
|
rs187213541
|
0.00454
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_002693.3(POLG):c.1126C>T (p.Leu376=)
|
rs116165908
|
0.00347
|
NM_021830.5(TWNK):c.*301C>T
|
rs41291468
|
0.00264
|
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)
|
rs144455095
|
0.00228
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)
|
rs145289229
|
0.00194
|
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=)
|
rs146538069
|
0.00190
|
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
|
rs147407423
|
0.00166
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)
|
rs34084584
|
0.00151
|
NM_198859.4(PRICKLE2):c.788-6T>C
|
rs180903875
|
0.00143
|
NM_021830.5(TWNK):c.639C>T (p.Gly213=)
|
rs11542130
|
0.00135
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_021830.5(TWNK):c.1735-14C>A
|
rs201795189
|
0.00121
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)
|
rs149786687
|
0.00113
|
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)
|
rs148689951
|
0.00097
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_198859.4(PRICKLE2):c.145-4T>G
|
rs375489210
|
0.00073
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_021830.5(TWNK):c.*709C>G
|
rs41291470
|
0.00046
|
NM_021830.5(TWNK):c.384C>T (p.Ser128=)
|
rs148234280
|
0.00045
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_021830.5(TWNK):c.*453G>A
|
rs769950933
|
0.00040
|
NM_021830.5(TWNK):c.241C>G (p.Leu81Val)
|
rs145068570
|
0.00033
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)
|
rs113542442
|
0.00032
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_021830.5(TWNK):c.-592C>T
|
rs774214514
|
0.00026
|
NM_198859.4(PRICKLE2):c.396+20A>C
|
rs200795972
|
0.00024
|
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=)
|
rs144338942
|
0.00023
|
NM_002693.3(POLG):c.2369G>A (p.Arg790His)
|
rs191490663
|
0.00021
|
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
|
rs62626271
|
0.00021
|
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)
|
rs144001072
|
0.00021
|
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=)
|
rs367685080
|
0.00019
|
NM_198859.4(PRICKLE2):c.635G>A (p.Gly212Glu)
|
rs779069863
|
0.00019
|
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)
|
rs200257554
|
0.00017
|
NM_198859.4(PRICKLE2):c.1044G>A (p.Glu348=)
|
rs759826899
|
0.00017
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln)
|
rs372367565
|
0.00016
|
NM_021830.5(TWNK):c.-418C>T
|
rs750659283
|
0.00015
|
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
|
rs200798080
|
0.00015
|
NM_021830.5(TWNK):c.*341G>A
|
rs1007423847
|
0.00014
|
NM_198859.4(PRICKLE2):c.1661-19C>T
|
rs542772297
|
0.00014
|
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=)
|
rs200220646
|
0.00014
|
NM_021830.5(TWNK):c.-290G>C
|
rs62626270
|
0.00013
|
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser)
|
rs202025796
|
0.00013
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=)
|
rs367680077
|
0.00012
|
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=)
|
rs143141434
|
0.00011
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=)
|
rs759852197
|
0.00010
|
NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=)
|
rs147177975
|
0.00010
|
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly)
|
rs755802840
|
0.00010
|
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser)
|
rs201192905
|
0.00009
|
NM_021830.5(TWNK):c.-470G>A
|
rs886046626
|
0.00009
|
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=)
|
rs144757200
|
0.00009
|
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=)
|
rs1477115652
|
0.00009
|
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=)
|
rs199642985
|
0.00009
|
NM_198859.4(PRICKLE2):c.906C>T (p.Gly302=)
|
rs369079932
|
0.00009
|
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)
|
rs139590686
|
0.00008
|
NM_002693.3(POLG):c.3075G>A (p.Leu1025=)
|
rs146404260
|
0.00008
|
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)
|
rs369175235
|
0.00008
|
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly)
|
rs751144474
|
0.00008
|
NM_198859.4(PRICKLE2):c.1104C>T (p.Asp368=)
|
rs749983619
|
0.00008
|
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala)
|
rs755987796
|
0.00007
|
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly)
|
rs533891439
|
0.00007
|
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro)
|
rs760877594
|
0.00007
|
NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val)
|
rs369686744
|
0.00007
|
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)
|
rs757315161
|
0.00006
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_002693.3(POLG):c.2601T>C (p.Pro867=)
|
rs201749977
|
0.00006
|
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)
|
rs771676521
|
0.00006
|
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val)
|
rs199751339
|
0.00006
|
NM_021830.5(TWNK):c.-644A>T
|
rs886046623
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=)
|
rs140374952
|
0.00006
|
NM_198859.4(PRICKLE2):c.1332G>A (p.Lys444=)
|
rs949245293
|
0.00006
|
NM_198859.4(PRICKLE2):c.1413C>T (p.Asp471=)
|
rs771425247
|
0.00006
|
NM_198859.4(PRICKLE2):c.1457T>C (p.Met486Thr)
|
rs751661338
|
0.00006
|
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met)
|
rs368904012
|
0.00006
|
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=)
|
rs532567960
|
0.00006
|
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His)
|
rs565155814
|
0.00006
|
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=)
|
rs751122249
|
0.00006
|
NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln)
|
rs775154480
|
0.00006
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_198859.4(PRICKLE2):c.1406G>A (p.Arg469Gln)
|
rs746640172
|
0.00005
|
NM_198859.4(PRICKLE2):c.1601C>T (p.Thr534Met)
|
rs559885674
|
0.00005
|
NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=)
|
rs769036804
|
0.00005
|
NM_002693.3(POLG):c.1433+1G>A
|
rs771623994
|
0.00004
|
NM_002693.3(POLG):c.2069C>T (p.Thr690Met)
|
rs201677865
|
0.00004
|
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu)
|
rs776848222
|
0.00004
|
NM_002693.3(POLG):c.331G>C (p.Gly111Arg)
|
rs760170099
|
0.00004
|
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln)
|
rs536732038
|
0.00004
|
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)
|
rs148786642
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_021830.5(TWNK):c.*234T>G
|
rs886046633
|
0.00004
|
NM_021830.5(TWNK):c.*438G>C
|
rs886046634
|
0.00004
|
NM_021830.5(TWNK):c.*561C>T
|
rs901722933
|
0.00004
|
NM_021830.5(TWNK):c.*574C>T
|
rs886046636
|
0.00004
|
NM_021830.5(TWNK):c.-549G>A
|
rs886046625
|
0.00004
|
NM_021830.5(TWNK):c.1572C>T (p.His524=)
|
rs774091248
|
0.00004
|
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
|
rs139124415
|
0.00004
|
NM_021830.5(TWNK):c.1953G>A (p.Lys651=)
|
rs771310512
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021830.5(TWNK):c.672T>C (p.Ala224=)
|
rs368863664
|
0.00004
|
NM_198859.4(PRICKLE2):c.1040C>T (p.Thr347Met)
|
rs375755312
|
0.00004
|
NM_198859.4(PRICKLE2):c.1098A>C (p.Ser366=)
|
rs779640034
|
0.00004
|
NM_198859.4(PRICKLE2):c.1661-11C>G
|
rs748395499
|
0.00004
|
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp)
|
rs749378051
|
0.00004
|
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=)
|
rs1431593729
|
0.00004
|
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)
|
rs387906989
|
0.00004
|
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn)
|
rs1449765785
|
0.00004
|
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe)
|
rs760799226
|
0.00004
|
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr)
|
rs765569869
|
0.00004
|
NM_198859.4(PRICKLE2):c.271A>C (p.Asn91His)
|
rs1256565263
|
0.00004
|
NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys)
|
rs750086425
|
0.00004
|
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=)
|
rs148888682
|
0.00004
|
NM_198859.4(PRICKLE2):c.788-20A>G
|
rs773057901
|
0.00004
|
NM_198859.4(PRICKLE2):c.950A>G (p.Asn317Ser)
|
rs201556180
|
0.00004
|
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr)
|
rs760554761
|
0.00004
|
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)
|
rs376306906
|
0.00003
|
NM_002693.3(POLG):c.2704C>G (p.Leu902Val)
|
rs745528696
|
0.00003
|
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys)
|
rs551811489
|
0.00003
|
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser)
|
rs530757118
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002693.3(POLG):c.629C>T (p.Thr210Ile)
|
rs1450989575
|
0.00003
|
NM_002693.3(POLG):c.739C>G (p.Leu247Val)
|
rs754696832
|
0.00003
|
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
|
rs775463083
|
0.00003
|
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser)
|
rs771168722
|
0.00003
|
NM_198859.4(PRICKLE2):c.1359G>A (p.Ser453=)
|
rs376231873
|
0.00003
|
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp)
|
rs772691573
|
0.00003
|
NM_198859.4(PRICKLE2):c.1597A>G (p.Met533Val)
|
rs758585243
|
0.00003
|
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His)
|
rs375448087
|
0.00003
|
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile)
|
rs771413626
|
0.00003
|
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=)
|
rs1177384016
|
0.00003
|
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His)
|
rs142077804
|
0.00003
|
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg)
|
rs758228643
|
0.00003
|
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=)
|
rs777032629
|
0.00003
|
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys)
|
rs188632189
|
0.00003
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)
|
rs767216577
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.2468G>A (p.Arg823His)
|
rs751172552
|
0.00002
|
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys)
|
rs760043525
|
0.00002
|
NM_002693.3(POLG):c.3077G>A (p.Arg1026His)
|
rs777038915
|
0.00002
|
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr)
|
rs770149949
|
0.00002
|
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln)
|
rs199678775
|
0.00002
|
NM_021830.5(TWNK):c.*552G>C
|
rs111434414
|
0.00002
|
NM_021830.5(TWNK):c.*769G>A
|
rs919556945
|
0.00002
|
NM_021830.5(TWNK):c.922T>C (p.Leu308=)
|
rs754389465
|
0.00002
|
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=)
|
rs727504106
|
0.00002
|
NM_198859.4(PRICKLE2):c.1422G>A (p.Pro474=)
|
rs778956632
|
0.00002
|
NM_198859.4(PRICKLE2):c.144+19G>A
|
rs778658655
|
0.00002
|
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
|
rs749232741
|
0.00002
|
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=)
|
rs886058800
|
0.00002
|
NM_198859.4(PRICKLE2):c.1642G>A (p.Ala548Thr)
|
rs375557486
|
0.00002
|
NM_198859.4(PRICKLE2):c.1661-15T>C
|
rs1330364882
|
0.00002
|
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr)
|
rs772970017
|
0.00002
|
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe)
|
rs759047402
|
0.00002
|
NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=)
|
rs754063352
|
0.00002
|
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser)
|
rs141791087
|
0.00002
|
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr)
|
rs200223474
|
0.00002
|
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val)
|
rs765702961
|
0.00002
|
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu)
|
rs371055489
|
0.00002
|
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg)
|
rs138533058
|
0.00002
|
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly)
|
rs1443371091
|
0.00002
|
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His)
|
rs1446878933
|
0.00002
|
NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr)
|
rs372791530
|
0.00002
|
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser)
|
rs199566606
|
0.00002
|
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile)
|
rs750828226
|
0.00002
|
NM_198859.4(PRICKLE2):c.750G>A (p.Leu250=)
|
rs745835545
|
0.00002
|
NM_198859.4(PRICKLE2):c.792C>T (p.Ile264=)
|
rs759827180
|
0.00002
|
NM_198859.4(PRICKLE2):c.897G>A (p.Pro299=)
|
rs1312900152
|
0.00002
|
NM_198859.4(PRICKLE2):c.923G>A (p.Arg308Gln)
|
rs150386533
|
0.00002
|
NM_198859.4(PRICKLE2):c.926C>G (p.Ala309Gly)
|
rs201966297
|
0.00002
|
NM_002693.3(POLG):c.1023+17G>A
|
rs778750911
|
0.00001
|
NM_002693.3(POLG):c.114G>T (p.Gly38=)
|
rs794727268
|
0.00001
|
NM_002693.3(POLG):c.1328G>A (p.Arg443His)
|
rs796052903
|
0.00001
|
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln)
|
rs1481695998
|
0.00001
|
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)
|
rs121918046
|
0.00001
|
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp)
|
rs754245040
|
0.00001
|
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg)
|
rs917815816
|
0.00001
|
NM_002693.3(POLG):c.1936G>T (p.Val646Phe)
|
rs757131755
|
0.00001
|
NM_002693.3(POLG):c.200G>C (p.Gly67Ala)
|
rs1399456619
|
0.00001
|
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)
|
rs1254855971
|
0.00001
|
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser)
|
rs1446536384
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys)
|
rs778190998
|
0.00001
|
NM_002693.3(POLG):c.30C>T (p.Ala10=)
|
rs1060504037
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu)
|
rs1057523186
|
0.00001
|
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)
|
rs762593265
|
0.00001
|
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp)
|
rs1381291951
|
0.00001
|
NM_002693.3(POLG):c.3273+17G>A
|
rs368578878
|
0.00001
|
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)
|
rs1354582663
|
0.00001
|
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
|
rs765949668
|
0.00001
|
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys)
|
rs149099318
|
0.00001
|
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)
|
rs753864625
|
0.00001
|
NM_002693.3(POLG):c.402C>G (p.Asn134Lys)
|
rs759939229
|
0.00001
|
NM_002693.3(POLG):c.431A>G (p.Gln144Arg)
|
rs1056580076
|
0.00001
|
NM_002693.3(POLG):c.730C>G (p.Leu244Val)
|
rs367959489
|
0.00001
|
NM_002693.3(POLG):c.856-3C>T
|
rs576339221
|
0.00001
|
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)
|
rs564582352
|
0.00001
|
NM_002693.3(POLG):c.869G>A (p.Arg290His)
|
rs146603953
|
0.00001
|
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)
|
rs796052895
|
0.00001
|
NM_002693.3(POLG):c.995C>T (p.Ser332Phe)
|
rs1567192290
|
0.00001
|
NM_021830.5(TWNK):c.*367A>G
|
rs62626296
|
0.00001
|
NM_021830.5(TWNK):c.*619G>A
|
rs886046637
|
0.00001
|
NM_021830.5(TWNK):c.*763T>C
|
rs886046639
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1244-14C>T
|
rs758757135
|
0.00001
|
NM_021830.5(TWNK):c.1488T>C (p.Thr496=)
|
rs549767223
|
0.00001
|
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)
|
rs886046632
|
0.00001
|
NM_021830.5(TWNK):c.913G>A (p.Val305Ile)
|
rs753457416
|
0.00001
|
NM_198859.4(PRICKLE2):c.1004G>A (p.Arg335Gln)
|
rs754654816
|
0.00001
|
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp)
|
rs776851070
|
0.00001
|
NM_198859.4(PRICKLE2):c.1101C>T (p.Ala367=)
|
rs755732268
|
0.00001
|
NM_198859.4(PRICKLE2):c.1102G>A (p.Asp368Asn)
|
rs544405738
|
0.00001
|
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val)
|
rs751445312
|
0.00001
|
NM_198859.4(PRICKLE2):c.1134G>A (p.Met378Ile)
|
rs368695262
|
0.00001
|
NM_198859.4(PRICKLE2):c.1139G>T (p.Ser380Ile)
|
rs1345969937
|
0.00001
|
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln)
|
rs773493989
|
0.00001
|
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln)
|
rs550384726
|
0.00001
|
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys)
|
rs780771241
|
0.00001
|
NM_198859.4(PRICKLE2):c.1323G>A (p.Met441Ile)
|
rs546622086
|
0.00001
|
NM_198859.4(PRICKLE2):c.1367C>T (p.Ala456Val)
|
rs1441238911
|
0.00001
|
NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile)
|
rs201170479
|
0.00001
|
NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=)
|
rs2078511790
|
0.00001
|
NM_198859.4(PRICKLE2):c.144+3A>G
|
rs746978790
|
0.00001
|
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys)
|
rs777124617
|
0.00001
|
NM_198859.4(PRICKLE2):c.1568C>A (p.Pro523His)
|
rs2077464822
|
0.00001
|
NM_198859.4(PRICKLE2):c.1576T>C (p.Ser526Pro)
|
rs1054433686
|
0.00001
|
NM_198859.4(PRICKLE2):c.1579C>T (p.Leu527=)
|
rs992998143
|
0.00001
|
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=)
|
rs1337013281
|
0.00001
|
NM_198859.4(PRICKLE2):c.1621C>A (p.Arg541=)
|
rs372400638
|
0.00001
|
NM_198859.4(PRICKLE2):c.1658C>T (p.Thr553Ile)
|
rs372225003
|
0.00001
|
NM_198859.4(PRICKLE2):c.1661-18C>T
|
rs770658226
|
0.00001
|
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr)
|
rs1205407393
|
0.00001
|
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys)
|
rs1277522148
|
0.00001
|
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg)
|
rs372175446
|
0.00001
|
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=)
|
rs1192406278
|
0.00001
|
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr)
|
rs757993759
|
0.00001
|
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His)
|
rs1227637171
|
0.00001
|
NM_198859.4(PRICKLE2):c.194A>G (p.Asn65Ser)
|
rs1338458844
|
0.00001
|
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=)
|
rs1310483187
|
0.00001
|
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly)
|
rs748599215
|
0.00001
|
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=)
|
rs1174848549
|
0.00001
|
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu)
|
rs2076619479
|
0.00001
|
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr)
|
rs763974341
|
0.00001
|
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys)
|
rs766598630
|
0.00001
|
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=)
|
rs779638112
|
0.00001
|
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg)
|
rs1180228524
|
0.00001
|
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=)
|
rs769402289
|
0.00001
|
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg)
|
rs766757910
|
0.00001
|
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met)
|
rs137975846
|
0.00001
|
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu)
|
rs762399074
|
0.00001
|
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=)
|
rs1348100945
|
0.00001
|
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=)
|
rs1324717403
|
0.00001
|
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=)
|
rs2076610677
|
0.00001
|
NM_198859.4(PRICKLE2):c.264A>T (p.Arg88=)
|
rs769630015
|
0.00001
|
NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=)
|
rs191871740
|
0.00001
|
NM_198859.4(PRICKLE2):c.397-8C>T
|
rs762192312
|
0.00001
|
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg)
|
rs775889804
|
0.00001
|
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser)
|
rs1247504361
|
0.00001
|
NM_198859.4(PRICKLE2):c.426C>A (p.Ile142=)
|
rs559904651
|
0.00001
|
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=)
|
rs777067889
|
0.00001
|
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile)
|
rs773419206
|
0.00001
|
NM_198859.4(PRICKLE2):c.483A>G (p.Val161=)
|
rs771805969
|
0.00001
|
NM_198859.4(PRICKLE2):c.492C>T (p.Val164=)
|
rs2077651144
|
0.00001
|
NM_198859.4(PRICKLE2):c.600+7G>A
|
rs765317470
|
0.00001
|
NM_198859.4(PRICKLE2):c.600+8C>T
|
rs759566367
|
0.00001
|
NM_198859.4(PRICKLE2):c.601-10C>A
|
rs756949758
|
0.00001
|
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=)
|
rs567814417
|
0.00001
|
NM_198859.4(PRICKLE2):c.637C>A (p.Arg213=)
|
rs753970642
|
0.00001
|
NM_198859.4(PRICKLE2):c.63G>C (p.Gln21His)
|
rs752000702
|
0.00001
|
NM_198859.4(PRICKLE2):c.660T>C (p.Phe220=)
|
rs756711521
|
0.00001
|
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=)
|
rs201779407
|
0.00001
|
NM_198859.4(PRICKLE2):c.714G>A (p.Glu238=)
|
rs941704858
|
0.00001
|
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=)
|
rs888655219
|
0.00001
|
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg)
|
rs765912174
|
0.00001
|
NM_198859.4(PRICKLE2):c.990G>A (p.Arg330=)
|
rs370001319
|
0.00001
|
NM_002693.2(POLG):c.[2554C>T];[32G>A]
|
|
|
NM_002693.2(POLG):c.[2693T>C];[924G>T]
|
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del)
|
rs41550117
|
|
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)
|
rs775576189
|
|
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)
|
rs1596358408
|
|
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
|
|
|
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile)
|
rs1555453653
|
|
NM_002693.3(POLG):c.1433+5C>T
|
rs924516946
|
|
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)
|
rs2055531147
|
|
NM_002693.3(POLG):c.1491G>C (p.Gln497His)
|
rs121918052
|
|
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala)
|
rs577476988
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.1811C>T (p.Ala604Val)
|
rs1433922299
|
|
NM_002693.3(POLG):c.2059A>G (p.Ile687Val)
|
rs796052881
|
|
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del)
|
rs760784347
|
|
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp)
|
rs2152063213
|
|
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro)
|
rs2055426653
|
|
NM_002693.3(POLG):c.2466C>G (p.Pro822=)
|
rs1235161601
|
|
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser)
|
rs906230544
|
|
NM_002693.3(POLG):c.2515del (p.Ala839fs)
|
rs1596352895
|
|
NM_002693.3(POLG):c.2530G>A (p.Val844Met)
|
rs1555452881
|
|
NM_002693.3(POLG):c.260T>C (p.Ile87Thr)
|
rs776347449
|
|
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)
|
rs1484810169
|
|
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)
|
rs121918048
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
NM_002693.3(POLG):c.3255dup (p.Ser1086fs)
|
rs1596350386
|
|
NM_002693.3(POLG):c.3274-8C>T
|
rs1184674847
|
|
NM_002693.3(POLG):c.3482+6C>T
|
rs55779802
|
|
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)
|
rs1596348443
|
|
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)
|
rs139562274
|
|
NM_002693.3(POLG):c.3643+2T>C
|
rs1335880349
|
|
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)
|
rs1159974816
|
|
NM_002693.3(POLG):c.729C>A (p.Asp243Glu)
|
rs757917194
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)
|
rs886041592
|
|
NM_002693.3:c.2734+39_2734+40insAGGT
|
rs2152061162
|
|
NM_021830.5(TWNK):c.*248G>A
|
rs1851850715
|
|
NM_021830.5(TWNK):c.*346A>C
|
rs1851852761
|
|
NM_021830.5(TWNK):c.*555G>A
|
rs886046635
|
|
NM_021830.5(TWNK):c.*747C>G
|
rs886046638
|
|
NM_021830.5(TWNK):c.-304G>A
|
rs200599543
|
|
NM_021830.5(TWNK):c.-423C>T
|
rs886046627
|
|
NM_021830.5(TWNK):c.-584G>C
|
rs1564806518
|
|
NM_021830.5(TWNK):c.-585T>G
|
rs886046624
|
|
NM_021830.5(TWNK):c.-622C>T
|
rs993449080
|
|
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
|
rs758026634
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
|
rs1274226715
|
|
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr)
|
rs1426435572
|
|
NM_021830.5(TWNK):c.2045G>A (p.Arg682His)
|
rs182559752
|
|
NM_021830.5(TWNK):c.276C>T (p.Gly92=)
|
rs886046631
|
|
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln)
|
rs1564807938
|
|
NM_021830.5(TWNK):c.77G>T (p.Gly26Val)
|
rs772221026
|
|
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)
|
rs80356543
|
|
NM_198859.3(PRICKLE2):c.[443G>A;457G>A]
|
|
|
NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys)
|
|
|
NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His)
|
rs147289291
|
|
NM_198859.4(PRICKLE2):c.1007G>T (p.Arg336Leu)
|
rs147289291
|
|
NM_198859.4(PRICKLE2):c.1010G>A (p.Ser337Asn)
|
rs750388947
|
|
NM_198859.4(PRICKLE2):c.1010G>C (p.Ser337Thr)
|
rs750388947
|
|
NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser)
|
|
|
NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg)
|
|
|
NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys)
|
|
|
NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp)
|
|
|
NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro)
|
|
|
NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=)
|
|
|
NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)
|
|
|
NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=)
|
|
|
NM_198859.4(PRICKLE2):c.1158C>A (p.Pro386=)
|
rs766760309
|
|
NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His)
|
rs2077472798
|
|
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys)
|
rs772212890
|
|
NM_198859.4(PRICKLE2):c.1185G>A (p.Arg395=)
|
rs1426180064
|
|
NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp)
|
|
|
NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe)
|
|
|
NM_198859.4(PRICKLE2):c.1241G>A (p.Ser414Asn)
|
rs2077471786
|
|
NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=)
|
|
|
NM_198859.4(PRICKLE2):c.126G>A (p.Pro42=)
|
|
|
NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=)
|
|
|
NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=)
|
|
|
NM_198859.4(PRICKLE2):c.1310C>T (p.Ala437Val)
|
rs769254046
|
|
NM_198859.4(PRICKLE2):c.1316C>T (p.Pro439Leu)
|
rs2107015374
|
|
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=)
|
rs745530308
|
|
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys)
|
rs770462303
|
|
NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp)
|
|
|
NM_198859.4(PRICKLE2):c.1330A>G (p.Lys444Glu)
|
|
|
NM_198859.4(PRICKLE2):c.1352G>A (p.Arg451Lys)
|
rs2077469469
|
|
NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=)
|
|
|
NM_198859.4(PRICKLE2):c.1369A>C (p.Met457Leu)
|
rs2107015250
|
|
NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val)
|
|
|
NM_198859.4(PRICKLE2):c.1414T>C (p.Tyr472His)
|
|
|
NM_198859.4(PRICKLE2):c.1421C>T (p.Pro474Leu)
|
rs1292913892
|
|
NM_198859.4(PRICKLE2):c.144+12G>T
|
|
|
NM_198859.4(PRICKLE2):c.144+6A>G
|
rs2107115161
|
|
NM_198859.4(PRICKLE2):c.1445G>A (p.Ser482Asn)
|
rs2107015068
|
|
NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=)
|
|
|
NM_198859.4(PRICKLE2):c.145-15C>T
|
|
|
NM_198859.4(PRICKLE2):c.1476T>C (p.Ser492=)
|
rs2107015019
|
|
NM_198859.4(PRICKLE2):c.1482C>T (p.Thr494=)
|
|
|
NM_198859.4(PRICKLE2):c.1512G>A (p.Glu504=)
|
|
|
NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp)
|
|
|
NM_198859.4(PRICKLE2):c.1514AGGAAG[2] (p.Glu509_Glu510del)
|
rs759955615
|
|
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu)
|
rs755987796
|
|
NM_198859.4(PRICKLE2):c.1534G>T (p.Gly512Cys)
|
|
|
NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala)
|
|
|
NM_198859.4(PRICKLE2):c.1545T>C (p.Thr515=)
|
rs747702861
|
|
NM_198859.4(PRICKLE2):c.1556G>A (p.Arg519Gln)
|
|
|
NM_198859.4(PRICKLE2):c.1557G>A (p.Arg519=)
|
rs2107014820
|
|
NM_198859.4(PRICKLE2):c.1560C>G (p.Thr520=)
|
rs2107014810
|
|
NM_198859.4(PRICKLE2):c.1562G>A (p.Arg521His)
|
|
|
NM_198859.4(PRICKLE2):c.1584A>G (p.Lys528=)
|
rs2077464539
|
|
NM_198859.4(PRICKLE2):c.1621C>T (p.Arg541Trp)
|
rs372400638
|
|
NM_198859.4(PRICKLE2):c.1625G>T (p.Gly542Val)
|
|
|
NM_198859.4(PRICKLE2):c.163T>A (p.Cys55Ser)
|
rs781210176
|
|
NM_198859.4(PRICKLE2):c.163T>C (p.Cys55Arg)
|
rs781210176
|
|
NM_198859.4(PRICKLE2):c.1643C>A (p.Ala548Asp)
|
|
|
NM_198859.4(PRICKLE2):c.1650T>C (p.Ser550=)
|
|
|
NM_198859.4(PRICKLE2):c.1660+14A>G
|
rs549966146
|
|
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del)
|
|
|
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala)
|
rs749378051
|
|
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr)
|
|
|
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu)
|
|
|
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met)
|
|
|
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=)
|
|
|
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu)
|
rs2076625828
|
|
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp)
|
|
|
NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu)
|
|
|
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp)
|
rs768820914
|
|
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His)
|
|
|
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp)
|
|
|
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys)
|
rs2076625078
|
|
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr)
|
rs2076624835
|
|
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del)
|
rs2076624394
|
|
NM_198859.4(PRICKLE2):c.188A>T (p.Tyr63Phe)
|
rs2077761285
|
|
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro)
|
rs775727925
|
|
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu)
|
|
|
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser)
|
|
|
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg)
|
rs2076623046
|
|
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val)
|
rs894055397
|
|
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=)
|
rs2076622893
|
|
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val)
|
rs747788121
|
|
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=)
|
rs1449765785
|
|
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala)
|
|
|
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp)
|
rs2076622017
|
|
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=)
|
rs376252127
|
|
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His)
|
|
|
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro)
|
rs747542060
|
|
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala)
|
|
|
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=)
|
|
|
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=)
|
rs1575531163
|
|
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro)
|
rs1308230146
|
|
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His)
|
|
|
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys)
|
|
|
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser)
|
rs2076619764
|
|
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=)
|
|
|
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His)
|
|
|
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr)
|
|
|
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=)
|
rs1278527320
|
|
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=)
|
|
|
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn)
|
rs2076618722
|
|
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe)
|
|
|
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=)
|
rs2106935376
|
|
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu)
|
rs772696632
|
|
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln)
|
rs1559550002
|
|
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=)
|
rs1003980147
|
|
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn)
|
|
|
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)
|
|
|
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys)
|
|
|
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys)
|
rs780553569
|
|
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu)
|
|
|
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=)
|
rs1262461948
|
|
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp)
|
rs2076617456
|
|
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=)
|
rs867670809
|
|
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)
|
|
|
NM_198859.4(PRICKLE2):c.222G>A (p.Lys74=)
|
rs2107045863
|
|
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys)
|
rs1387331875
|
|
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val)
|
rs1248829595
|
|
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=)
|
rs2106935117
|
|
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala)
|
rs2106935115
|
|
NM_198859.4(PRICKLE2):c.225G>A (p.Gln75=)
|
rs1575606617
|
|
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr)
|
|
|
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro)
|
rs2106935074
|
|
NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=)
|
rs2076615763
|
|
NM_198859.4(PRICKLE2):c.2283T>C (p.Phe761=)
|
rs1575530550
|
|
NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg)
|
|
|
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val)
|
|
|
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys)
|
rs2076614473
|
|
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe)
|
|
|
NM_198859.4(PRICKLE2):c.234C>G (p.His78Gln)
|
rs755337354
|
|
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=)
|
|
|
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser)
|
rs775899030
|
|
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys)
|
rs765451868
|
|
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu)
|
|
|
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His)
|
|
|
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=)
|
|
|
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg)
|
|
|
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg)
|
rs2106934819
|
|
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu)
|
|
|
NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=)
|
|
|
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn)
|
|
|
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=)
|
|
|
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=)
|
rs1346052915
|
|
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser)
|
rs972442832
|
|
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg)
|
rs2106934728
|
|
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg)
|
|
|
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=)
|
rs2106934707
|
|
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=)
|
|
|
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=)
|
rs748122339
|
|
NM_198859.4(PRICKLE2):c.258+19C>T
|
|
|
NM_198859.4(PRICKLE2):c.258+5G>A
|
rs1368875653
|
|
NM_198859.4(PRICKLE2):c.258+8del
|
|
|
NM_198859.4(PRICKLE2):c.259-12G>T
|
rs751516474
|
|
NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln)
|
|
|
NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro)
|
rs2077706388
|
|
NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=)
|
|
|
NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=)
|
|
|
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys)
|
rs752616529
|
|
NM_198859.4(PRICKLE2):c.352G>A (p.Val118Ile)
|
rs2107039561
|
|
NM_198859.4(PRICKLE2):c.356G>C (p.Arg119Thr)
|
rs2077705419
|
|
NM_198859.4(PRICKLE2):c.366A>C (p.Pro122=)
|
rs1248570551
|
|
NM_198859.4(PRICKLE2):c.369C>T (p.Val123=)
|
rs1458439956
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NM_198859.4(PRICKLE2):c.372C>T (p.Thr124=)
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rs201949075
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NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)
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rs797045065
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NM_198859.4(PRICKLE2):c.384_385delinsCT (p.Ile129Phe)
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rs2107039475
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NM_198859.4(PRICKLE2):c.391G>A (p.Glu131Lys)
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rs1334482107
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NM_198859.4(PRICKLE2):c.396+19G>A
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NM_198859.4(PRICKLE2):c.396+19G>T
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NM_198859.4(PRICKLE2):c.396+5G>A
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rs2107039424
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NM_198859.4(PRICKLE2):c.397-7C>T
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rs1575600608
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NM_198859.4(PRICKLE2):c.399C>T (p.Cys133=)
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|
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NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met)
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NM_198859.4(PRICKLE2):c.413A>T (p.Asn138Ile)
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rs1247504361
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NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu)
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rs762381874
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NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)
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NM_198859.4(PRICKLE2):c.445G>A (p.Ala149Thr)
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rs202025796
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NM_198859.4(PRICKLE2):c.447T>A (p.Ala149=)
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rs2107034706
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NM_198859.4(PRICKLE2):c.453C>T (p.His151=)
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NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe)
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rs1553644844
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NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys)
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|
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NM_198859.4(PRICKLE2):c.489T>G (p.Thr163=)
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rs2107034580
|
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NM_198859.4(PRICKLE2):c.490G>A (p.Val164Ile)
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rs886058801
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NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val)
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rs762452354
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NM_198859.4(PRICKLE2):c.504C>T (p.Leu168=)
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rs1362874246
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NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg)
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NM_198859.4(PRICKLE2):c.541A>T (p.Ile181Leu)
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rs1047934663
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NM_198859.4(PRICKLE2):c.543A>T (p.Ile181=)
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rs952961914
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NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe)
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rs1553644782
|
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NM_198859.4(PRICKLE2):c.561T>C (p.His187=)
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|
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NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu)
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NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His)
|
rs1553644768
|
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NM_198859.4(PRICKLE2):c.585T>C (p.Cys195=)
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rs2077648753
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NM_198859.4(PRICKLE2):c.586G>A (p.Ala196Thr)
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NM_198859.4(PRICKLE2):c.589G>A (p.Ala197Thr)
|
rs2107034360
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NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu)
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NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=)
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|
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NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val)
|
rs2077576258
|
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NM_198859.4(PRICKLE2):c.653A>G (p.Lys218Arg)
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rs2077576224
|
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NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg)
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NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys)
|
rs1199006668
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NM_198859.4(PRICKLE2):c.683T>C (p.Val228Ala)
|
rs2077575900
|
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NM_198859.4(PRICKLE2):c.708G>C (p.Met236Ile)
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rs2077575497
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NM_198859.4(PRICKLE2):c.721C>A (p.Pro241Thr)
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rs2077575277
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NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=)
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rs1575596028
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NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn)
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|
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NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu)
|
rs763876127
|
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NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=)
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|
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NM_198859.4(PRICKLE2):c.759A>G (p.Glu253=)
|
rs1422015238
|
|
NM_198859.4(PRICKLE2):c.762T>C (p.Tyr254=)
|
rs2077574651
|
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NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=)
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|
|
NM_198859.4(PRICKLE2):c.781C>T (p.His261Tyr)
|
rs2107026575
|
|
NM_198859.4(PRICKLE2):c.788-28_788-20del
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|
|
NM_198859.4(PRICKLE2):c.788-6T>G
|
rs180903875
|
|
NM_198859.4(PRICKLE2):c.793G>A (p.Asp265Asn)
|
rs1312810720
|
|
NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=)
|
rs1435284437
|
|
NM_198859.4(PRICKLE2):c.837T>C (p.Thr279=)
|
rs1226884715
|
|
NM_198859.4(PRICKLE2):c.843C>A (p.Thr281=)
|
rs2107016324
|
|
NM_198859.4(PRICKLE2):c.860A>G (p.His287Arg)
|
rs1201078531
|
|
NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln)
|
|
|
NM_198859.4(PRICKLE2):c.894C>A (p.Leu298=)
|
rs372232760
|
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NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu)
|
|
|
NM_198859.4(PRICKLE2):c.906C>A (p.Gly302=)
|
rs369079932
|
|
NM_198859.4(PRICKLE2):c.906C>G (p.Gly302=)
|
rs369079932
|
|
NM_198859.4(PRICKLE2):c.913T>G (p.Phe305Val)
|
rs2077478096
|
|
NM_198859.4(PRICKLE2):c.920C>G (p.Ser307Ter)
|
rs2077478027
|
|
NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala)
|
|
|
NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser)
|
|
|
NM_198859.4(PRICKLE2):c.983A>G (p.Asn328Ser)
|
rs2107016123
|
|
NM_198859.4(PRICKLE2):c.985G>C (p.Ala329Pro)
|
rs1447125975
|
|
NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly)
|
rs2078512537
|
|
NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val)
|
|
|
NM_198859.4(PRICKLE2):c.991G>A (p.Ala331Thr)
|
rs1406891675
|
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NM_198859.4(PRICKLE2):c.991G>C (p.Ala331Pro)
|
rs1406891675
|
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