ClinVar Miner

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

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 789
Download table as spreadsheet
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_006118.4(HAX1):c.-58T>G rs11265425 0.23384
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
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_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 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_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_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 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.5663T>C (p.Ile1888Thr) rs779082817 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.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.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_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg) rs772658121 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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.