NM_015164.4(PLEKHM2):c.1357G>A (p.Asp453Asn)
|
rs576329050
|
0.00050
|
NM_015164.4(PLEKHM2):c.1165T>G (p.Ser389Ala)
|
rs200354338
|
0.00043
|
NM_015164.4(PLEKHM2):c.2566G>A (p.Glu856Lys)
|
rs145743094
|
0.00034
|
NM_015164.4(PLEKHM2):c.3044G>A (p.Arg1015Gln)
|
rs199904231
|
0.00032
|
NM_015164.4(PLEKHM2):c.1163G>A (p.Arg388His)
|
rs750156567
|
0.00027
|
NM_015164.4(PLEKHM2):c.658G>A (p.Asp220Asn)
|
rs375501738
|
0.00022
|
NM_015164.4(PLEKHM2):c.1495G>T (p.Ala499Ser)
|
rs202014397
|
0.00021
|
NM_015164.4(PLEKHM2):c.1738A>G (p.Met580Val)
|
rs375845025
|
0.00021
|
NM_015164.4(PLEKHM2):c.2823C>G (p.Ser941Arg)
|
rs749682801
|
0.00021
|
NM_015164.4(PLEKHM2):c.745C>T (p.Arg249Cys)
|
rs61738981
|
0.00018
|
NM_015164.4(PLEKHM2):c.1115C>T (p.Pro372Leu)
|
rs199741495
|
0.00016
|
NM_015164.4(PLEKHM2):c.1349C>T (p.Pro450Leu)
|
rs200715563
|
0.00014
|
NM_015164.4(PLEKHM2):c.1967A>G (p.Asn656Ser)
|
rs547769286
|
0.00014
|
NM_015164.4(PLEKHM2):c.2971T>C (p.Phe991Leu)
|
rs201091991
|
0.00014
|
NM_015164.4(PLEKHM2):c.820G>A (p.Glu274Lys)
|
rs552932422
|
0.00013
|
NM_015164.4(PLEKHM2):c.3035G>A (p.Arg1012Gln)
|
rs533946132
|
0.00011
|
NM_015164.4(PLEKHM2):c.3029G>A (p.Arg1010His)
|
rs745963513
|
0.00010
|
NM_015164.4(PLEKHM2):c.2530A>T (p.Ile844Phe)
|
rs770529447
|
0.00009
|
NM_015164.4(PLEKHM2):c.1313G>A (p.Arg438Gln)
|
rs370277036
|
0.00008
|
NM_015164.4(PLEKHM2):c.815T>C (p.Phe272Ser)
|
rs918240859
|
0.00008
|
NM_015164.4(PLEKHM2):c.2215G>T (p.Ala739Ser)
|
rs751676919
|
0.00007
|
NM_015164.4(PLEKHM2):c.541C>T (p.Arg181Cys)
|
rs780487076
|
0.00007
|
NM_015164.4(PLEKHM2):c.1085G>A (p.Arg362Gln)
|
rs370612427
|
0.00006
|
NM_015164.4(PLEKHM2):c.1346C>T (p.Pro449Leu)
|
rs542799086
|
0.00006
|
NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser)
|
rs376758113
|
0.00006
|
NM_015164.4(PLEKHM2):c.1957G>A (p.Val653Ile)
|
rs746715478
|
0.00006
|
NM_015164.4(PLEKHM2):c.2404G>A (p.Gly802Arg)
|
rs745867909
|
0.00006
|
NM_015164.4(PLEKHM2):c.2689C>T (p.Arg897Cys)
|
rs375841573
|
0.00006
|
NM_015164.4(PLEKHM2):c.461A>T (p.Asp154Val)
|
rs764894986
|
0.00006
|
NM_015164.4(PLEKHM2):c.505T>C (p.Tyr169His)
|
rs752340656
|
0.00006
|
NM_015164.4(PLEKHM2):c.98C>T (p.Pro33Leu)
|
rs760374432
|
0.00006
|
NM_015164.4(PLEKHM2):c.131G>A (p.Arg44His)
|
rs750819902
|
0.00005
|
NM_015164.4(PLEKHM2):c.2939C>T (p.Thr980Met)
|
rs571532775
|
0.00005
|
NM_015164.4(PLEKHM2):c.631G>A (p.Ala211Thr)
|
rs751230545
|
0.00005
|
NM_015164.4(PLEKHM2):c.1177C>G (p.Leu393Val)
|
rs374197596
|
0.00004
|
NM_015164.4(PLEKHM2):c.1214G>A (p.Arg405His)
|
rs369908043
|
0.00004
|
NM_015164.4(PLEKHM2):c.1733C>T (p.Ser578Leu)
|
rs540693679
|
0.00004
|
NM_015164.4(PLEKHM2):c.2030G>A (p.Arg677His)
|
rs899766875
|
0.00004
|
NM_015164.4(PLEKHM2):c.2054C>T (p.Thr685Met)
|
rs1160636602
|
0.00004
|
NM_015164.4(PLEKHM2):c.2266G>A (p.Glu756Lys)
|
rs571147456
|
0.00004
|
NM_015164.4(PLEKHM2):c.2434G>A (p.Asp812Asn)
|
rs760046299
|
0.00004
|
NM_015164.4(PLEKHM2):c.2509C>T (p.Arg837Trp)
|
rs374236339
|
0.00004
|
NM_015164.4(PLEKHM2):c.2651G>A (p.Ser884Asn)
|
rs768068764
|
0.00004
|
NM_015164.4(PLEKHM2):c.2758G>A (p.Asp920Asn)
|
rs200570089
|
0.00004
|
NM_015164.4(PLEKHM2):c.2770G>A (p.Val924Ile)
|
rs754516943
|
0.00004
|
NM_015164.4(PLEKHM2):c.3031G>A (p.Gly1011Ser)
|
rs775573162
|
0.00004
|
NM_015164.4(PLEKHM2):c.400G>A (p.Asp134Asn)
|
rs373180239
|
0.00004
|
NM_015164.4(PLEKHM2):c.502G>A (p.Asp168Asn)
|
rs764949831
|
0.00004
|
NM_015164.4(PLEKHM2):c.562G>A (p.Gly188Ser)
|
rs771166429
|
0.00004
|
NM_015164.4(PLEKHM2):c.746G>A (p.Arg249His)
|
rs765918617
|
0.00004
|
NM_015164.4(PLEKHM2):c.760G>A (p.Asp254Asn)
|
rs369874310
|
0.00004
|
NM_015164.4(PLEKHM2):c.827C>T (p.Pro276Leu)
|
rs148791341
|
0.00004
|
NM_015164.4(PLEKHM2):c.1341G>C (p.Glu447Asp)
|
rs368687150
|
0.00003
|
NM_015164.4(PLEKHM2):c.1397G>A (p.Arg466His)
|
rs1414192320
|
0.00003
|
NM_015164.4(PLEKHM2):c.1543C>T (p.Arg515Trp)
|
rs747848774
|
0.00003
|
NM_015164.4(PLEKHM2):c.1976A>G (p.Asp659Gly)
|
rs775027447
|
0.00003
|
NM_015164.4(PLEKHM2):c.2182T>C (p.Phe728Leu)
|
rs761820612
|
0.00003
|
NM_015164.4(PLEKHM2):c.2389G>A (p.Val797Met)
|
rs1453645890
|
0.00003
|
NM_015164.4(PLEKHM2):c.2690G>A (p.Arg897His)
|
rs369377320
|
0.00003
|
NM_015164.4(PLEKHM2):c.2828A>G (p.Gln943Arg)
|
rs761674764
|
0.00003
|
NM_015164.4(PLEKHM2):c.554C>T (p.Ser185Leu)
|
rs748388504
|
0.00003
|
NM_015164.4(PLEKHM2):c.632C>T (p.Ala211Val)
|
rs373741350
|
0.00003
|
NM_015164.4(PLEKHM2):c.830C>A (p.Ala277Glu)
|
rs555141596
|
0.00003
|
NM_015164.4(PLEKHM2):c.862G>A (p.Val288Met)
|
rs764750661
|
0.00003
|
NM_015164.4(PLEKHM2):c.1015G>A (p.Ala339Thr)
|
rs1047914096
|
0.00002
|
NM_015164.4(PLEKHM2):c.1213C>T (p.Arg405Cys)
|
rs749518615
|
0.00002
|
NM_015164.4(PLEKHM2):c.1555G>T (p.Asp519Tyr)
|
rs770377384
|
0.00002
|
NM_015164.4(PLEKHM2):c.1969G>A (p.Glu657Lys)
|
rs759249900
|
0.00002
|
NM_015164.4(PLEKHM2):c.2090C>G (p.Ser697Cys)
|
rs1476472457
|
0.00002
|
NM_015164.4(PLEKHM2):c.2147C>T (p.Thr716Met)
|
rs777263405
|
0.00002
|
NM_015164.4(PLEKHM2):c.2222C>A (p.Thr741Asn)
|
rs568623962
|
0.00002
|
NM_015164.4(PLEKHM2):c.241G>A (p.Glu81Lys)
|
rs867591890
|
0.00002
|
NM_015164.4(PLEKHM2):c.2437G>A (p.Val813Ile)
|
rs373111686
|
0.00002
|
NM_015164.4(PLEKHM2):c.2641G>A (p.Val881Ile)
|
rs748768806
|
0.00002
|
NM_015164.4(PLEKHM2):c.2897A>C (p.Asn966Thr)
|
rs149249024
|
0.00002
|
NM_015164.4(PLEKHM2):c.2922+3A>G
|
rs2068164567
|
0.00002
|
NM_015164.4(PLEKHM2):c.3032G>T (p.Gly1011Val)
|
rs748976518
|
0.00002
|
NM_015164.4(PLEKHM2):c.449G>A (p.Arg150His)
|
rs753728158
|
0.00002
|
NM_015164.4(PLEKHM2):c.598G>A (p.Val200Ile)
|
rs775218720
|
0.00002
|
NM_015164.4(PLEKHM2):c.809A>G (p.Asn270Ser)
|
rs1427860287
|
0.00002
|
NM_015164.4(PLEKHM2):c.1091C>T (p.Ser364Leu)
|
rs375548142
|
0.00001
|
NM_015164.4(PLEKHM2):c.1117C>G (p.Gln373Glu)
|
rs778344771
|
0.00001
|
NM_015164.4(PLEKHM2):c.1118A>G (p.Gln373Arg)
|
rs1263111211
|
0.00001
|
NM_015164.4(PLEKHM2):c.1148C>T (p.Thr383Met)
|
rs749482191
|
0.00001
|
NM_015164.4(PLEKHM2):c.1159G>A (p.Glu387Lys)
|
rs376491799
|
0.00001
|
NM_015164.4(PLEKHM2):c.1172C>T (p.Pro391Leu)
|
rs764775012
|
0.00001
|
NM_015164.4(PLEKHM2):c.1285C>T (p.Arg429Cys)
|
rs750912985
|
0.00001
|
NM_015164.4(PLEKHM2):c.1312C>T (p.Arg438Trp)
|
rs772221050
|
0.00001
|
NM_015164.4(PLEKHM2):c.1325C>G (p.Pro442Arg)
|
rs762656151
|
0.00001
|
NM_015164.4(PLEKHM2):c.1330G>T (p.Asp444Tyr)
|
rs773770696
|
0.00001
|
NM_015164.4(PLEKHM2):c.1379C>T (p.Ala460Val)
|
rs1242744565
|
0.00001
|
NM_015164.4(PLEKHM2):c.1538C>T (p.Thr513Met)
|
rs373517149
|
0.00001
|
NM_015164.4(PLEKHM2):c.1661A>G (p.Lys554Arg)
|
rs753778128
|
0.00001
|
NM_015164.4(PLEKHM2):c.1663C>T (p.Arg555Ter)
|
rs1377708613
|
0.00001
|
NM_015164.4(PLEKHM2):c.1671G>T (p.Gln557His)
|
rs373878060
|
0.00001
|
NM_015164.4(PLEKHM2):c.1833G>T (p.Met611Ile)
|
rs758944920
|
0.00001
|
NM_015164.4(PLEKHM2):c.1837C>T (p.Arg613Trp)
|
rs778088672
|
0.00001
|
NM_015164.4(PLEKHM2):c.1849G>A (p.Gly617Arg)
|
rs746131818
|
0.00001
|
NM_015164.4(PLEKHM2):c.1882G>A (p.Val628Met)
|
rs199779846
|
0.00001
|
NM_015164.4(PLEKHM2):c.1915C>T (p.Arg639Trp)
|
rs1352162718
|
0.00001
|
NM_015164.4(PLEKHM2):c.1921+6C>T
|
rs1451525606
|
0.00001
|
NM_015164.4(PLEKHM2):c.1922-3C>T
|
rs1329030614
|
0.00001
|
NM_015164.4(PLEKHM2):c.1985C>T (p.Ser662Leu)
|
rs778617942
|
0.00001
|
NM_015164.4(PLEKHM2):c.2045T>C (p.Leu682Pro)
|
rs2068105572
|
0.00001
|
NM_015164.4(PLEKHM2):c.205G>A (p.Val69Met)
|
rs765299409
|
0.00001
|
NM_015164.4(PLEKHM2):c.2066C>T (p.Ala689Val)
|
rs545971251
|
0.00001
|
NM_015164.4(PLEKHM2):c.2135C>T (p.Pro712Leu)
|
rs771712474
|
0.00001
|
NM_015164.4(PLEKHM2):c.2227C>T (p.Arg743Cys)
|
rs769063819
|
0.00001
|
NM_015164.4(PLEKHM2):c.2267A>T (p.Glu756Val)
|
rs2068127720
|
0.00001
|
NM_015164.4(PLEKHM2):c.2282C>T (p.Thr761Met)
|
rs570032250
|
0.00001
|
NM_015164.4(PLEKHM2):c.2428C>T (p.Arg810Cys)
|
rs761692683
|
0.00001
|
NM_015164.4(PLEKHM2):c.2458A>C (p.Asn820His)
|
rs534045338
|
0.00001
|
NM_015164.4(PLEKHM2):c.2461A>G (p.Met821Val)
|
rs1453093500
|
0.00001
|
NM_015164.4(PLEKHM2):c.2466-9C>G
|
rs764517535
|
0.00001
|
NM_015164.4(PLEKHM2):c.2483G>A (p.Gly828Asp)
|
rs750577757
|
0.00001
|
NM_015164.4(PLEKHM2):c.2510G>A (p.Arg837Gln)
|
rs1325122392
|
0.00001
|
NM_015164.4(PLEKHM2):c.2572G>A (p.Glu858Lys)
|
rs555840819
|
0.00001
|
NM_015164.4(PLEKHM2):c.2578G>A (p.Glu860Lys)
|
rs770725489
|
0.00001
|
NM_015164.4(PLEKHM2):c.2587G>A (p.Glu863Lys)
|
rs1412158115
|
0.00001
|
NM_015164.4(PLEKHM2):c.2626G>T (p.Val876Phe)
|
rs1464968857
|
0.00001
|
NM_015164.4(PLEKHM2):c.2699C>T (p.Thr900Met)
|
rs765432354
|
0.00001
|
NM_015164.4(PLEKHM2):c.2713T>C (p.Cys905Arg)
|
rs372585673
|
0.00001
|
NM_015164.4(PLEKHM2):c.2731C>T (p.Arg911Cys)
|
rs1316562875
|
0.00001
|
NM_015164.4(PLEKHM2):c.274C>T (p.Arg92Cys)
|
rs886757579
|
0.00001
|
NM_015164.4(PLEKHM2):c.2783C>T (p.Pro928Leu)
|
rs1290176281
|
0.00001
|
NM_015164.4(PLEKHM2):c.2806-2A>G
|
rs1447936371
|
0.00001
|
NM_015164.4(PLEKHM2):c.2833C>T (p.Leu945Phe)
|
rs535480952
|
0.00001
|
NM_015164.4(PLEKHM2):c.2920C>A (p.Gln974Lys)
|
rs756525436
|
0.00001
|
NM_015164.4(PLEKHM2):c.2974G>A (p.Glu992Lys)
|
rs369250576
|
0.00001
|
NM_015164.4(PLEKHM2):c.2980G>T (p.Ala994Ser)
|
rs2068185103
|
0.00001
|
NM_015164.4(PLEKHM2):c.3001G>A (p.Ala1001Thr)
|
rs1448543905
|
0.00001
|
NM_015164.4(PLEKHM2):c.3010C>T (p.Arg1004Trp)
|
rs767576522
|
0.00001
|
NM_015164.4(PLEKHM2):c.3043C>T (p.Arg1015Ter)
|
rs61738980
|
0.00001
|
NM_015164.4(PLEKHM2):c.373G>A (p.Val125Ile)
|
rs764064755
|
0.00001
|
NM_015164.4(PLEKHM2):c.460G>T (p.Asp154Tyr)
|
rs939394495
|
0.00001
|
NM_015164.4(PLEKHM2):c.590T>G (p.Phe197Cys)
|
rs1196866843
|
0.00001
|
NM_015164.4(PLEKHM2):c.686C>T (p.Pro229Leu)
|
rs1337397914
|
0.00001
|
NM_015164.4(PLEKHM2):c.712G>A (p.Asp238Asn)
|
rs2067996105
|
0.00001
|
NM_015164.4(PLEKHM2):c.754G>A (p.Ala252Thr)
|
rs551226298
|
0.00001
|
NM_015164.4(PLEKHM2):c.803G>A (p.Arg268His)
|
rs540176774
|
0.00001
|
NM_015164.4(PLEKHM2):c.839T>C (p.Val280Ala)
|
rs1367075387
|
0.00001
|
NM_015164.4(PLEKHM2):c.890A>C (p.Glu297Ala)
|
rs750549299
|
0.00001
|
NM_015164.4(PLEKHM2):c.892G>A (p.Ala298Thr)
|
rs1161474873
|
0.00001
|
NM_015164.4(PLEKHM2):c.8C>T (p.Pro3Leu)
|
rs866837651
|
0.00001
|
NM_015164.4(PLEKHM2):c.911C>T (p.Pro304Leu)
|
rs1053888190
|
0.00001
|
NM_015164.4(PLEKHM2):c.914A>T (p.Asp305Val)
|
rs758071508
|
0.00001
|
NM_015164.4(PLEKHM2):c.931G>A (p.Glu311Lys)
|
rs772148348
|
0.00001
|
NM_015164.4(PLEKHM2):c.941+6C>T
|
rs1170781688
|
0.00001
|
NC_000001.10:g.(?_16011044)_(16060439_?)dup
|
|
|
NC_000001.10:g.(?_16042712)_(16060429_?)dup
|
|
|
NC_000001.10:g.(?_16042722)_(16060439_?)dup
|
|
|
NC_000001.10:g.(?_16057007)_(16060429_?)dup
|
|
|
NC_000001.10:g.(?_16058407)_(16059004_?)del
|
|
|
NC_000001.11:g.(?_15731879)_(15732738_?)del
|
|
|
NM_015164.4(PLEKHM2):c.101C>T (p.Ala34Val)
|
|
|
NM_015164.4(PLEKHM2):c.1021A>C (p.Ser341Arg)
|
rs886205223
|
|
NM_015164.4(PLEKHM2):c.1036G>T (p.Ala346Ser)
|
|
|
NM_015164.4(PLEKHM2):c.1047G>T (p.Gly349=)
|
rs1295574333
|
|
NM_015164.4(PLEKHM2):c.1048G>T (p.Asp350Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.1051G>A (p.Gly351Ser)
|
rs759813805
|
|
NM_015164.4(PLEKHM2):c.1052_1097del (p.Gly351fs)
|
rs2068073260
|
|
NM_015164.4(PLEKHM2):c.1061G>A (p.Arg354His)
|
|
|
NM_015164.4(PLEKHM2):c.1061G>C (p.Arg354Pro)
|
rs751121316
|
|
NM_015164.4(PLEKHM2):c.1061G>T (p.Arg354Leu)
|
rs751121316
|
|
NM_015164.4(PLEKHM2):c.1061_1063dup (p.Arg354_Asn355insSer)
|
rs2068073520
|
|
NM_015164.4(PLEKHM2):c.1065C>A (p.Asn355Lys)
|
rs377142193
|
|
NM_015164.4(PLEKHM2):c.1065C>G (p.Asn355Lys)
|
rs377142193
|
|
NM_015164.4(PLEKHM2):c.1066G>A (p.Gly356Ser)
|
|
|
NM_015164.4(PLEKHM2):c.106C>T (p.Arg36Trp)
|
|
|
NM_015164.4(PLEKHM2):c.1075A>G (p.Ser359Gly)
|
|
|
NM_015164.4(PLEKHM2):c.1078C>T (p.Leu360Phe)
|
|
|
NM_015164.4(PLEKHM2):c.1084C>T (p.Arg362Trp)
|
rs61738983
|
|
NM_015164.4(PLEKHM2):c.1085G>T (p.Arg362Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1085_1105del (p.Arg362_Met368del)
|
|
|
NM_015164.4(PLEKHM2):c.1090_1098del (p.Ser364_Asp366del)
|
|
|
NM_015164.4(PLEKHM2):c.1095_1112dup (p.Ser371_Pro372insAspThrMetLeuAlaSer)
|
|
|
NM_015164.4(PLEKHM2):c.1100C>G (p.Thr367Ser)
|
rs774282688
|
|
NM_015164.4(PLEKHM2):c.1104G>A (p.Met368Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1112C>A (p.Ser371Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.1115C>G (p.Pro372Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1117C>A (p.Gln373Lys)
|
|
|
NM_015164.4(PLEKHM2):c.111C>G (p.Asn37Lys)
|
rs1641444723
|
|
NM_015164.4(PLEKHM2):c.1136C>T (p.Pro379Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1151A>G (p.Glu384Gly)
|
|
|
NM_015164.4(PLEKHM2):c.1159G>C (p.Glu387Gln)
|
rs376491799
|
|
NM_015164.4(PLEKHM2):c.1168G>A (p.Glu390Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1187del (p.Pro396fs)
|
|
|
NM_015164.4(PLEKHM2):c.1254C>A (p.Asn418Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1256G>A (p.Gly419Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1262T>C (p.Leu421Pro)
|
|
|
NM_015164.4(PLEKHM2):c.1267C>T (p.Pro423Ser)
|
|
|
NM_015164.4(PLEKHM2):c.1301A>T (p.Asp434Val)
|
|
|
NM_015164.4(PLEKHM2):c.1303C>A (p.Gln435Lys)
|
rs748386047
|
|
NM_015164.4(PLEKHM2):c.1317_1318delinsAT (p.Gly440Cys)
|
|
|
NM_015164.4(PLEKHM2):c.1322C>T (p.Ser441Phe)
|
rs373711687
|
|
NM_015164.4(PLEKHM2):c.1327G>A (p.Gly443Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1337C>T (p.Pro446Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1344G>T (p.Arg448Ser)
|
|
|
NM_015164.4(PLEKHM2):c.134T>C (p.Leu45Pro)
|
|
|
NM_015164.4(PLEKHM2):c.1384A>G (p.Met462Val)
|
|
|
NM_015164.4(PLEKHM2):c.1384A>T (p.Met462Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1396C>T (p.Arg466Cys)
|
|
|
NM_015164.4(PLEKHM2):c.139G>A (p.Glu47Lys)
|
rs2148357243
|
|
NM_015164.4(PLEKHM2):c.1405G>A (p.Val469Ile)
|
rs748904369
|
|
NM_015164.4(PLEKHM2):c.1408G>A (p.Glu470Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1411A>G (p.Ser471Gly)
|
|
|
NM_015164.4(PLEKHM2):c.142C>A (p.His48Asn)
|
|
|
NM_015164.4(PLEKHM2):c.1469C>A (p.Pro490Gln)
|
rs368020288
|
|
NM_015164.4(PLEKHM2):c.14A>T (p.Glu5Val)
|
rs769845310
|
|
NM_015164.4(PLEKHM2):c.1506AGA[2] (p.Glu505del)
|
rs1345388703
|
|
NM_015164.4(PLEKHM2):c.1517G>A (p.Gly506Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1538C>A (p.Thr513Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1538C>G (p.Thr513Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1556A>T (p.Asp519Val)
|
|
|
NM_015164.4(PLEKHM2):c.1577_2399+159del
|
|
|
NM_015164.4(PLEKHM2):c.1623G>T (p.Glu541Asp)
|
|
|
NM_015164.4(PLEKHM2):c.1627G>C (p.Glu543Gln)
|
rs1557660279
|
|
NM_015164.4(PLEKHM2):c.1640A>G (p.Gln547Arg)
|
rs762166145
|
|
NM_015164.4(PLEKHM2):c.1664G>A (p.Arg555Gln)
|
rs754709565
|
|
NM_015164.4(PLEKHM2):c.1679C>T (p.Pro560Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1705G>A (p.Gly569Arg)
|
rs2148373073
|
|
NM_015164.4(PLEKHM2):c.1706G>C (p.Gly569Ala)
|
rs1557660418
|
|
NM_015164.4(PLEKHM2):c.1739T>C (p.Met580Thr)
|
|
|
NM_015164.4(PLEKHM2):c.1741G>A (p.Val581Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1760+1G>C
|
rs112106313
|
|
NM_015164.4(PLEKHM2):c.176A>T (p.Asp59Val)
|
rs2148357683
|
|
NM_015164.4(PLEKHM2):c.1775A>G (p.His592Arg)
|
|
|
NM_015164.4(PLEKHM2):c.177C>A (p.Asp59Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1791G>A (p.Met597Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1798G>A (p.Val600Met)
|
|
|
NM_015164.4(PLEKHM2):c.1805G>A (p.Arg602Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1831-3C>T
|
rs562966267
|
|
NM_015164.4(PLEKHM2):c.1837C>G (p.Arg613Gly)
|
rs778088672
|
|
NM_015164.4(PLEKHM2):c.1838G>A (p.Arg613Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1847C>T (p.Thr616Ile)
|
rs1260363265
|
|
NM_015164.4(PLEKHM2):c.1849G>T (p.Gly617Trp)
|
|
|
NM_015164.4(PLEKHM2):c.1855A>G (p.Met619Val)
|
|
|
NM_015164.4(PLEKHM2):c.1876C>G (p.Leu626Val)
|
|
|
NM_015164.4(PLEKHM2):c.1878G>A (p.Leu626=)
|
|
|
NM_015164.4(PLEKHM2):c.1885C>G (p.Leu629Val)
|
|
|
NM_015164.4(PLEKHM2):c.1901A>G (p.Tyr634Cys)
|
|
|
NM_015164.4(PLEKHM2):c.1916G>A (p.Arg639Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1942C>G (p.Leu648Val)
|
|
|
NM_015164.4(PLEKHM2):c.1975G>T (p.Asp659Tyr)
|
rs2148374720
|
|
NM_015164.4(PLEKHM2):c.1986G>A (p.Ser662=)
|
rs750948403
|
|
NM_015164.4(PLEKHM2):c.1999C>A (p.Gln667Lys)
|
|
|
NM_015164.4(PLEKHM2):c.2006C>T (p.Thr669Met)
|
|
|
NM_015164.4(PLEKHM2):c.2023A>G (p.Thr675Ala)
|
rs2148375396
|
|
NM_015164.4(PLEKHM2):c.2029C>T (p.Arg677Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2071G>T (p.Ala691Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2102C>T (p.Ala701Val)
|
rs2068114434
|
|
NM_015164.4(PLEKHM2):c.2109del (p.Gly705fs)
|
rs1553161364
|
|
NM_015164.4(PLEKHM2):c.2144T>C (p.Leu715Pro)
|
rs1557661974
|
|
NM_015164.4(PLEKHM2):c.2151T>G (p.Asp717Glu)
|
rs2068115318
|
|
NM_015164.4(PLEKHM2):c.2158A>G (p.Met720Val)
|
|
|
NM_015164.4(PLEKHM2):c.217C>T (p.Arg73Trp)
|
rs778698313
|
|
NM_015164.4(PLEKHM2):c.218G>A (p.Arg73Gln)
|
|
|
NM_015164.4(PLEKHM2):c.2193A>C (p.Gln731His)
|
|
|
NM_015164.4(PLEKHM2):c.2198C>T (p.Ser733Leu)
|
|
|
NM_015164.4(PLEKHM2):c.219_220insCTCTCCGA (p.Arg74fs)
|
|
|
NM_015164.4(PLEKHM2):c.2230T>G (p.Phe744Val)
|
|
|
NM_015164.4(PLEKHM2):c.2239C>T (p.Leu747Phe)
|
rs2068127084
|
|
NM_015164.4(PLEKHM2):c.2255A>G (p.Asp752Gly)
|
rs2148378112
|
|
NM_015164.4(PLEKHM2):c.2289C>A (p.Cys763Ter)
|
rs762871052
|
|
NM_015164.4(PLEKHM2):c.2293T>C (p.Cys765Arg)
|
|
|
NM_015164.4(PLEKHM2):c.22G>A (p.Asp8Asn)
|
|
|
NM_015164.4(PLEKHM2):c.2302C>A (p.Pro768Thr)
|
rs754341890
|
|
NM_015164.4(PLEKHM2):c.2302C>T (p.Pro768Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2303C>T (p.Pro768Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2320A>G (p.Lys774Glu)
|
rs1553161495
|
|
NM_015164.4(PLEKHM2):c.2335C>T (p.His779Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.2381C>T (p.Thr794Met)
|
|
|
NM_015164.4(PLEKHM2):c.2400-10_2400-9delinsAA
|
|
|
NM_015164.4(PLEKHM2):c.2400-12G>T
|
|
|
NM_015164.4(PLEKHM2):c.241G>C (p.Glu81Gln)
|
|
|
NM_015164.4(PLEKHM2):c.2423C>T (p.Pro808Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2429G>A (p.Arg810His)
|
|
|
NM_015164.4(PLEKHM2):c.2443C>T (p.Pro815Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2464G>A (p.Gly822Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2466G>C (p.Gly822=)
|
rs201370265
|
|
NM_015164.4(PLEKHM2):c.2466G>T (p.Gly822=)
|
rs201370265
|
|
NM_015164.4(PLEKHM2):c.2467G>C (p.Gly823Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2474A>C (p.Gln825Pro)
|
rs1557663567
|
|
NM_015164.4(PLEKHM2):c.2475G>C (p.Gln825His)
|
|
|
NM_015164.4(PLEKHM2):c.2489G>A (p.Arg830Gln)
|
|
|
NM_015164.4(PLEKHM2):c.248T>C (p.Leu83Pro)
|
rs2148357780
|
|
NM_015164.4(PLEKHM2):c.2499C>A (p.Asn833Lys)
|
|
|
NM_015164.4(PLEKHM2):c.2504C>T (p.Thr835Met)
|
|
|
NM_015164.4(PLEKHM2):c.2539G>A (p.Asp847Asn)
|
rs774711874
|
|
NM_015164.4(PLEKHM2):c.2539G>C (p.Asp847His)
|
|
|
NM_015164.4(PLEKHM2):c.2541C>G (p.Asp847Glu)
|
rs1208216470
|
|
NM_015164.4(PLEKHM2):c.2543G>A (p.Arg848Gln)
|
rs376748082
|
|
NM_015164.4(PLEKHM2):c.2543G>T (p.Arg848Leu)
|
rs376748082
|
|
NM_015164.4(PLEKHM2):c.2573A>C (p.Glu858Ala)
|
|
|
NM_015164.4(PLEKHM2):c.2576C>G (p.Ala859Gly)
|
rs1390978555
|
|
NM_015164.4(PLEKHM2):c.2593A>T (p.Met865Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2594T>G (p.Met865Arg)
|
|
|
NM_015164.4(PLEKHM2):c.25C>G (p.Arg9Gly)
|
|
|
NM_015164.4(PLEKHM2):c.2614G>T (p.Val872Leu)
|
rs868336310
|
|
NM_015164.4(PLEKHM2):c.2620A>G (p.Lys874Glu)
|
rs970061065
|
|
NM_015164.4(PLEKHM2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2677C>A (p.Leu893Ile)
|
rs1249701724
|
|
NM_015164.4(PLEKHM2):c.268C>G (p.Leu90Val)
|
|
|
NM_015164.4(PLEKHM2):c.2713T>G (p.Cys905Gly)
|
rs372585673
|
|
NM_015164.4(PLEKHM2):c.2756G>A (p.Gly919Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2756del (p.Gly919fs)
|
rs774574426
|
|
NM_015164.4(PLEKHM2):c.275G>A (p.Arg92His)
|
|
|
NM_015164.4(PLEKHM2):c.2784G>A (p.Pro928=)
|
|
|
NM_015164.4(PLEKHM2):c.2800G>A (p.Val934Ile)
|
|
|
NM_015164.4(PLEKHM2):c.2801T>A (p.Val934Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2805+3G>A
|
rs537871625
|
|
NM_015164.4(PLEKHM2):c.280C>T (p.Arg94Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2816A>T (p.Gln939Leu)
|
rs1170562546
|
|
NM_015164.4(PLEKHM2):c.284C>G (p.Ala95Gly)
|
|
|
NM_015164.4(PLEKHM2):c.2852A>G (p.Tyr951Cys)
|
rs1553161749
|
|
NM_015164.4(PLEKHM2):c.2861G>C (p.Cys954Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2866T>C (p.Ser956Pro)
|
|
|
NM_015164.4(PLEKHM2):c.2890G>T (p.Ala964Ser)
|
rs1571076902
|
|
NM_015164.4(PLEKHM2):c.2902G>A (p.Gly968Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2902G>C (p.Gly968Arg)
|
|
|
NM_015164.4(PLEKHM2):c.291_292inv (p.Tyr98His)
|
|
|
NM_015164.4(PLEKHM2):c.2922+1_2922+3del
|
|
|
NM_015164.4(PLEKHM2):c.2935C>A (p.His979Asn)
|
rs756795422
|
|
NM_015164.4(PLEKHM2):c.2935C>T (p.His979Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.2940G>A (p.Thr980=)
|
|
|
NM_015164.4(PLEKHM2):c.2957C>G (p.Ser986Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2962A>G (p.Lys988Glu)
|
rs2148383647
|
|
NM_015164.4(PLEKHM2):c.2963del (p.Lys988fs)
|
rs753628124
|
|
NM_015164.4(PLEKHM2):c.2964GAA[1] (p.Lys990del)
|
rs766206014
|
|
NM_015164.4(PLEKHM2):c.3013A>G (p.Ser1005Gly)
|
|
|
NM_015164.4(PLEKHM2):c.3013A>T (p.Ser1005Cys)
|
|
|
NM_015164.4(PLEKHM2):c.3016G>A (p.Asp1006Asn)
|
|
|
NM_015164.4(PLEKHM2):c.3018C>G (p.Asp1006Glu)
|
|
|
NM_015164.4(PLEKHM2):c.301C>A (p.Leu101Ile)
|
|
|
NM_015164.4(PLEKHM2):c.3020G>A (p.Ser1007Asn)
|
rs933542967
|
|
NM_015164.4(PLEKHM2):c.3028C>T (p.Arg1010Cys)
|
|
|
NM_015164.4(PLEKHM2):c.346A>G (p.Asn116Asp)
|
rs2148358906
|
|
NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn)
|
rs1315618796
|
|
NM_015164.4(PLEKHM2):c.383C>G (p.Ala128Gly)
|
rs2148359540
|
|
NM_015164.4(PLEKHM2):c.394A>C (p.Ser132Arg)
|
|
|
NM_015164.4(PLEKHM2):c.406C>G (p.Leu136Val)
|
|
|
NM_015164.4(PLEKHM2):c.416T>C (p.Phe139Ser)
|
rs1641494441
|
|
NM_015164.4(PLEKHM2):c.433G>A (p.Gly145Arg)
|
rs867582918
|
|
NM_015164.4(PLEKHM2):c.448C>G (p.Arg150Gly)
|
|
|
NM_015164.4(PLEKHM2):c.460G>C (p.Asp154His)
|
|
|
NM_015164.4(PLEKHM2):c.465+3G>A
|
|
|
NM_015164.4(PLEKHM2):c.466G>T (p.Asp156Tyr)
|
rs1206630127
|
|
NM_015164.4(PLEKHM2):c.50C>T (p.Ser17Leu)
|
rs1385246324
|
|
NM_015164.4(PLEKHM2):c.542G>A (p.Arg181His)
|
|
|
NM_015164.4(PLEKHM2):c.551G>C (p.Ser184Thr)
|
|
|
NM_015164.4(PLEKHM2):c.55AAG[1] (p.Lys20del)
|
rs745635006
|
|
NM_015164.4(PLEKHM2):c.607A>G (p.Thr203Ala)
|
|
|
NM_015164.4(PLEKHM2):c.638C>G (p.Ala213Gly)
|
rs2067967505
|
|
NM_015164.4(PLEKHM2):c.646A>G (p.Ser216Gly)
|
rs374683119
|
|
NM_015164.4(PLEKHM2):c.655T>C (p.Tyr219His)
|
|
|
NM_015164.4(PLEKHM2):c.667G>T (p.Asp223Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.680C>T (p.Ala227Val)
|
|
|
NM_015164.4(PLEKHM2):c.683T>C (p.Val228Ala)
|
|
|
NM_015164.4(PLEKHM2):c.703G>C (p.Asp235His)
|
rs1553160375
|
|
NM_015164.4(PLEKHM2):c.709G>A (p.Glu237Lys)
|
|
|
NM_015164.4(PLEKHM2):c.713A>G (p.Asp238Gly)
|
rs2068048289
|
|
NM_015164.4(PLEKHM2):c.731C>T (p.Thr244Met)
|
|
|
NM_015164.4(PLEKHM2):c.745dup (p.Arg249fs)
|
rs2148368648
|
|
NM_015164.4(PLEKHM2):c.75T>G (p.Phe25Leu)
|
rs1161377740
|
|
NM_015164.4(PLEKHM2):c.762C>A (p.Asp254Glu)
|
|
|
NM_015164.4(PLEKHM2):c.766A>G (p.Thr256Ala)
|
|
|
NM_015164.4(PLEKHM2):c.779C>G (p.Ala260Gly)
|
|
|
NM_015164.4(PLEKHM2):c.781_784dup (p.Thr262fs)
|
rs2148368750
|
|
NM_015164.4(PLEKHM2):c.794C>T (p.Pro265Leu)
|
|
|
NM_015164.4(PLEKHM2):c.820G>C (p.Glu274Gln)
|
rs552932422
|
|
NM_015164.4(PLEKHM2):c.843CTC[1] (p.Ser283del)
|
rs2148368927
|
|
NM_015164.4(PLEKHM2):c.882G>C (p.Glu294Asp)
|
|
|
NM_015164.4(PLEKHM2):c.899C>A (p.Ala300Asp)
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NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu)
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rs1422101821
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NM_015164.4(PLEKHM2):c.913G>A (p.Asp305Asn)
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NM_015164.4(PLEKHM2):c.916G>A (p.Ala306Thr)
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NM_015164.4(PLEKHM2):c.925G>A (p.Glu309Lys)
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NM_015164.4(PLEKHM2):c.93G>C (p.Glu31Asp)
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NM_015164.4(PLEKHM2):c.941+4A>T
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rs1571063613
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NM_015164.4(PLEKHM2):c.980G>T (p.Ser327Ile)
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NM_015164.4(PLEKHM2):c.98C>G (p.Pro33Arg)
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rs760374432
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NM_015164.4(PLEKHM2):c.991G>C (p.Glu331Gln)
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