ClinVar Miner

List of variants studied for leukopenia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 789
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_006118.4(HAX1):c.-58T>G rs11265425 0.21409
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_152564.4(VPS13B):c.*1932T>G rs10106711 0.01850
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00812
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_000081.4(LYST):c.-5C>T rs141317482 0.00475
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_183235.3(RAB27A):c.*1863C>T rs566144766 0.00405
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033 0.00400
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_183235.3(RAB27A):c.*1878T>C rs552625680 0.00389
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_152564.5(VPS13B):c.*61G>A rs189939258 0.00218
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_152564.5(VPS13B):c.*1355T>G rs562826355 0.00204
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
NM_183235.3(RAB27A):c.-93G>T rs181491869 0.00151
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_183235.3(RAB27A):c.*370T>C rs144322660 0.00112
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_152564.5(VPS13B):c.*202T>A rs201566966 0.00108
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_138387.4(G6PC3):c.*97G>C rs565305947 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_152564.5(VPS13B):c.*831C>T rs547185676 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_152564.5(VPS13B):c.*924A>C rs186225330 0.00066
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_183235.3(RAB27A):c.*2343G>C rs141632141 0.00057
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_152564.5(VPS13B):c.*743T>G rs144603951 0.00038
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 0.00034
NM_183235.3(RAB27A):c.*2415T>C rs749048516 0.00034
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_152564.5(VPS13B):c.*305G>A rs149912942 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_000081.4(LYST):c.2313G>A (p.Gln771=) rs147220685 0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.3394-14T>C rs372892911 0.00029
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000081.4(LYST):c.7368T>C (p.Asn2456=) rs199631995 0.00026
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_003664.5(AP3B1):c.1168-9C>T rs367648410 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.9045-13T>C rs181450025 0.00021
NM_152564.5(VPS13B):c.*1345C>T rs778566330 0.00021
NM_152564.5(VPS13B):c.*745C>G rs138761680 0.00021
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_003664.5(AP3B1):c.*482C>T rs538570213 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_183235.3(RAB27A):c.*1672T>C rs886051306 0.00016
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_183235.3(RAB27A):c.*1473T>C rs568895039 0.00015
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.2333+12A>T rs373498932 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00014
NM_183235.3(RAB27A):c.*429C>T rs368212830 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_138387.4(G6PC3):c.-164G>A rs886052985 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) rs146457386 0.00010
NM_000081.4(LYST):c.196T>C (p.Leu66=) rs138393416 0.00010
NM_003664.5(AP3B1):c.*101T>C rs766029582 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00010
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_183235.3(RAB27A):c.*1296T>G rs560689599 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_003664.5(AP3B1):c.537-9A>G rs372285421 0.00009
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_183235.3(RAB27A):c.*1842C>T rs1030465363 0.00009
NM_183235.3(RAB27A):c.-58A>G rs572723752 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00007
NM_183235.3(RAB27A):c.*1485G>A rs886051308 0.00007
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.3834G>A (p.Leu1278=) rs148542548 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_003664.5(AP3B1):c.*507G>A rs865863660 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_152564.5(VPS13B):c.*304C>T rs913240465 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) rs1419202718 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00006
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys) rs144350008 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_183235.3(RAB27A):c.*1156T>G rs747438491 0.00006
NM_183235.3(RAB27A):c.*1170T>G rs574506558 0.00006
NM_183235.3(RAB27A):c.*1669A>G rs981927108 0.00006
NM_183235.3(RAB27A):c.*814G>A rs146798701 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_152564.5(VPS13B):c.*705T>C rs886062554 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp) rs117357319 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_000081.4(LYST):c.110C>T (p.Thr37Met) rs375106444 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_152564.5(VPS13B):c.*1540T>C rs148026916 0.00004
NM_152564.5(VPS13B):c.-30T>A rs886062533 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) rs199881514 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_183235.3(RAB27A):c.-142-84C>T rs992388018 0.00004
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.4566A>C (p.Ala1522=) rs142344106 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_152564.5(VPS13B):c.*140G>A rs535987441 0.00003
NM_152564.5(VPS13B):c.*637C>G rs565441903 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) rs886062535 0.00003
NM_183235.3(RAB27A):c.*2334C>A rs886051304 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) rs753075331 0.00002
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln) rs777528760 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_183235.3(RAB27A):c.*2135C>A rs1025029271 0.00002
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile) rs202010795 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_003664.5(AP3B1):c.*141T>C rs753283084 0.00001
NM_003664.5(AP3B1):c.*447C>T rs886060768 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala) rs778281326 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser) rs759963419 0.00001
NM_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 0.00001
NM_152564.5(VPS13B):c.*1037C>A rs1246944981 0.00001
NM_152564.5(VPS13B):c.*1239C>T rs1817725052 0.00001
NM_152564.5(VPS13B):c.*438C>T rs1412435648 0.00001
NM_152564.5(VPS13B):c.*665T>C rs1326591170 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) rs759636784 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His) rs748531719 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 0.00001
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) rs756072319 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val) rs187596259 0.00001
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) rs146540735 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) rs747340772 0.00001
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) rs1001219779 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00001
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val) rs1451188144 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met) rs1297641779 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
NM_183235.3(RAB27A):c.*1598A>G rs565137216 0.00001
NM_183235.3(RAB27A):c.*1915A>T rs1192254377 0.00001
NM_183235.3(RAB27A):c.*2031C>T rs1300772256 0.00001
NM_183235.3(RAB27A):c.*730T>C rs886051310 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_000081.4(LYST):c.*1211G>A
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1295T>C
NM_000081.4(LYST):c.*1356G>T
NM_000081.4(LYST):c.*1379G>C
NM_000081.4(LYST):c.*1428T>G
NM_000081.4(LYST):c.*1438C>T
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1533G>A
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*1792A>G
NM_000081.4(LYST):c.*1831A>C
NM_000081.4(LYST):c.*1861C>A
NM_000081.4(LYST):c.*191T>C
NM_000081.4(LYST):c.*246C>T
NM_000081.4(LYST):c.*247G>T
NM_000081.4(LYST):c.*275A>T
NM_000081.4(LYST):c.*319C>G
NM_000081.4(LYST):c.*329A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*519C>T
NM_000081.4(LYST):c.*5G>A
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*694T>C
NM_000081.4(LYST):c.*712T>C
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.*809A>G
NM_000081.4(LYST):c.*824A>G
NM_000081.4(LYST):c.*831A>G
NM_000081.4(LYST):c.*873G>C
NM_000081.4(LYST):c.*891G>C
NM_000081.4(LYST):c.*907G>A
NM_000081.4(LYST):c.*921C>T
NM_000081.4(LYST):c.*94A>G
NM_000081.4(LYST):c.*962G>A
NM_000081.4(LYST):c.-131G>C
NM_000081.4(LYST):c.-134G>A
NM_000081.4(LYST):c.-134G>C
NM_000081.4(LYST):c.-136G>A
NM_000081.4(LYST):c.-139G>A
NM_000081.4(LYST):c.-140G>C
NM_000081.4(LYST):c.-142C>T
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.-97-13dup
NM_000081.4(LYST):c.-97-9T>G
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.4(LYST):c.10940+11A>T
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.4(LYST):c.11196-15T>G
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.600C>T (p.His200=)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
NM_000081.4(LYST):c.8535+7C>T
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.8801+15G>C
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAZ):c.-119=
NM_001301365.1(LYST):c.-98+16250G>C
NM_003664.4(AP3B1):c.-126C>G rs760008097
NM_003664.5(AP3B1):c.*191C>G rs6864605
NM_003664.5(AP3B1):c.*380G>A rs911081557
NM_003664.5(AP3B1):c.*380G>C rs911081557
NM_003664.5(AP3B1):c.-115G>A rs886060776
NM_003664.5(AP3B1):c.-83G>C rs774869942
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val) rs1743584840
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=) rs954170484
NM_003664.5(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn) rs1752586022
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.5(AP3B1):c.786+6T>A rs1332793203
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys) rs1744368521
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[16] rs35896485
NM_005263.5(GFI1):c.925-40CT[17] rs35896485
NM_005263.5(GFI1):c.925-40CT[20] rs35896485
NM_005263.5(GFI1):c.925-40CT[22] rs35896485
NM_005263.5(GFI1):c.925-40CT[23] rs35896485
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT rs766365921
NM_006118.3(HAX1):c.-150A>T rs544123058
NM_006118.4(HAX1):c.*1C>G rs747961567
NM_006118.4(HAX1):c.*80C>T rs912619566
NM_006118.4(HAX1):c.-53del rs373592376
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro) rs761500862
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp) rs1684906279
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.677G>A (p.Arg226His) rs750920845
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_138387.4(G6PC3):c.*151G>C rs1046770
NM_138387.4(G6PC3):c.*1CTT[1] rs761219348
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
NM_138387.4(G6PC3):c.-191T>G rs886052984
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203
NM_152564.5(VPS13B):c.*1101TGAT[3] rs543048641
NM_152564.5(VPS13B):c.*1106_*1108dup rs765534822
NM_152564.5(VPS13B):c.*1211G>A rs1025183545
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*1431G>A rs866313484
NM_152564.5(VPS13B):c.*1483C>A rs886062558
NM_152564.5(VPS13B):c.*1504_*1507dup rs747583708
NM_152564.5(VPS13B):c.*1570G>A rs186440514
NM_152564.5(VPS13B):c.*1571A>G rs1817736511
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*270C>T rs886062550
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.*701A>T rs932121133
NM_152564.5(VPS13B):c.*733A>T rs886062555
NM_152564.5(VPS13B):c.*740G>C rs886062556
NM_152564.5(VPS13B):c.-30+6C>G rs147672364
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10061+4G>C rs964791071
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala) rs953219294
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg) rs886062549
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys) rs1816421633
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter) rs758842658
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg) rs886062534
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg) rs1813686473
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2651-12A>G rs886062538
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro) rs886062539
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu) rs753607562
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=) rs140905518
NM_152564.5(VPS13B):c.3667-5C>G rs886062540
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala) rs1820051985
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val) rs886062541
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys) rs180177360
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu) rs1824576572
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser) rs1829388448
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) rs886062542
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=) rs761542645
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg) rs183874686
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) rs780093448
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val) rs774362514
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) rs886062544
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val) rs765442907
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu) rs886062545
NM_152564.5(VPS13B):c.8621+4C>T rs1563489649
NM_152564.5(VPS13B):c.8793-7G>A rs886062547
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val) rs6992059
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe) rs1814517169
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=) rs886062548
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu) rs1815137390
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys) rs1372759268
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe) rs116746734
NM_183235.3(RAB27A):c.*1110A>G rs560464809
NM_183235.3(RAB27A):c.*1172T>C rs148704535
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*131C>T rs993461205
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.*1546T>C rs1894521152
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1863C>G rs566144766
NM_183235.3(RAB27A):c.*1904A>T rs28620827
NM_183235.3(RAB27A):c.*1919A>T rs867969605
NM_183235.3(RAB27A):c.*28A>G rs1894595727
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*415C>T rs1894577892
NM_183235.3(RAB27A):c.*457A>G rs112397072
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*595G>T rs538867721
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*854A>G rs1894556488
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.*9G>A rs768429078
NM_183235.3(RAB27A):c.-142-110G>A rs1275639637
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.-23+13A>G rs1897659170
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068

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