ClinVar Miner

List of variants reported as likely benign for leukopenia

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6355
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HGVS dbSNP gnomAD frequency
NM_003136.4(SRP54):c.1327+16_1327+32del rs369856554 0.16649
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_152564.5(VPS13B):c.*702dup rs200421894 0.03823
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_152564.4(VPS13B):c.*1932T>G rs10106711 0.01850
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909 0.01507
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167 0.01450
NM_152564.5(VPS13B):c.*336_*353dup rs554420171 0.01237
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn) rs143713547 0.00863
NM_001401501.2(MUC16):c.27739T>C (p.Ser9247Pro) rs76869876 0.00816
NM_183235.3(RAB27A):c.*2160A>G rs62020099 0.00739
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_003260.5(TLE2):c.946G>A (p.Gly316Arg) rs201317355 0.00668
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_183235.3(RAB27A):c.*132G>A rs77014779 0.00511
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln) rs115748902 0.00454
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn) rs145312531 0.00429
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_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu) rs149025999 0.00340
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_005462.5(MAGEC1):c.2T>C (p.Met1Thr) rs113574601 0.00322
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.7870C>T (p.Arg2624Trp) rs150306354 0.00280
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_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala) rs149914857 0.00269
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=) rs371716153 0.00262
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His) rs140841742 0.00241
NM_152274.5(CCNQ):c.338G>A (p.Arg113His) rs150562029 0.00241
NM_000081.4(LYST):c.597C>G (p.Asp199Glu) rs112127610 0.00238
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
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_003664.5(AP3B1):c.1857T>G (p.Leu619=) rs115892142 0.00200
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) rs35622214 0.00185
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_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_183235.3(RAB27A):c.-142-86A>T rs191174694 0.00165
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_183235.3(RAB27A):c.*2216A>G rs150526064 0.00158
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val) rs139640224 0.00154
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_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_000081.4(LYST):c.6632C>G (p.Pro2211Arg) rs138972355 0.00140
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000760.4(CSF3R):c.704T>C (p.Met235Thr) rs141729889 0.00133
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_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser) rs141619366 0.00115
NM_003136.4(SRP54):c.636A>C (p.Ile212=) rs140228686 0.00113
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
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_000081.4(LYST):c.11382C>T (p.Phe3794=) rs111770759 0.00102
NM_005263.5(GFI1):c.-14A>C rs200972824 0.00101
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000081.4(LYST):c.7229+3A>G rs529306869 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro) rs201101662 0.00073
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_001164277.2(SLC37A4):c.785+6A>T rs369358436 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000081.4(LYST):c.6455G>A (p.Ser2152Asn) rs147761755 0.00070
NM_152564.5(VPS13B):c.11495+6A>G rs116546060 0.00070
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.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_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00066
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_138387.4(G6PC3):c.468G>A (p.Ala156=) rs141663645 0.00061
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_005263.5(GFI1):c.1032C>T (p.Tyr344=) rs139144506 0.00056
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) rs143579306 0.00055
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_183235.3(RAB27A):c.*725C>T rs116903039 0.00054
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) rs150083315 0.00053
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=) rs148971334 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_001164277.2(SLC37A4):c.985+228C>G rs201997939 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) rs199764888 0.00048
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=) rs147817990 0.00048
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00047
NM_152564.5(VPS13B):c.711T>C (p.Arg237=) rs140808736 0.00047
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_001972.4(ELANE):c.784C>T (p.Pro262Ser) rs138211132 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_000081.4(LYST):c.3217A>G (p.Ile1073Val) rs151130915 0.00045
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile) rs376498106 0.00042
NM_152564.5(VPS13B):c.8793-12T>A rs189516672 0.00042
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile) rs140709787 0.00041
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) rs144587192 0.00039
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000760.4(CSF3R):c.93C>T (p.Val31=) rs150277708 0.00036
NM_003467.3(CXCR4):c.708G>A (p.Lys236=) rs199713103 0.00036
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser) rs147342579 0.00036
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_152564.5(VPS13B):c.7430-11T>C rs369223072 0.00035
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000760.4(CSF3R):c.2211C>T (p.Ser737=) rs376211630 0.00034
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00034
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 0.00034
NM_000760.4(CSF3R):c.486-14T>G rs201903505 0.00032
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732 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_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_004523.4(KIF11):c.77+5G>C rs200188195 0.00031
NM_152564.5(VPS13B):c.1843+16A>G rs141433441 0.00031
NM_152564.5(VPS13B):c.3083-14A>G rs373617404 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.11114A>T (p.Glu3705Val) rs376308074 0.00030
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_000081.4(LYST):c.8268C>T (p.His2756=) rs141534829 0.00029
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 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_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_005263.5(GFI1):c.572C>T (p.Ala191Val) rs758542203 0.00028
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_007259.5(VPS45):c.1297C>A (p.Arg433=) rs140771138 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 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_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=) rs147242148 0.00025
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_152564.5(VPS13B):c.6752T>C (p.Val2251Ala) rs147576864 0.00024
NM_000081.4(LYST):c.10053G>A (p.Ser3351=) rs146872810 0.00023
NM_000760.4(CSF3R):c.765A>T (p.Pro255=) rs145439244 0.00023
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys) rs200577201 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_001972.4(ELANE):c.441C>T (p.Asn147=) rs146878885 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_003467.3(CXCR4):c.153T>A (p.Thr51=) rs145879963 0.00021
NM_003467.3(CXCR4):c.294C>T (p.Ala98=) rs142289207 0.00021
NM_007259.5(VPS45):c.1556A>G (p.Tyr519Cys) rs145193116 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_000081.4(LYST):c.1674G>A (p.Leu558=) rs149520131 0.00019
NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe) rs556200563 0.00019
NM_000116.5(TAFAZZIN):c.584-7del rs782192927 0.00019
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_000760.4(CSF3R):c.855C>T (p.Leu285=) rs150784508 0.00019
NM_001164277.2(SLC37A4):c.1124+36C>G rs547915912 0.00019
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=) rs575051014 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_152564.5(VPS13B):c.6658-13T>A rs369117364 0.00019
NM_006118.4(HAX1):c.557-6T>C rs776550825 0.00018
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=) rs145090492 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_001972.4(ELANE):c.366+12C>A rs377068029 0.00017
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=) rs201097736 0.00017
NM_005263.5(GFI1):c.83G>A (p.Arg28His) rs372866021 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_000081.4(LYST):c.588T>C (p.Pro196=) rs147724454 0.00016
NM_000081.4(LYST):c.603C>T (p.Pro201=) rs146354628 0.00016
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_000760.4(CSF3R):c.1864+13G>A rs776320121 0.00016
NM_003467.3(CXCR4):c.861C>T (p.Thr287=) rs535778934 0.00016
NM_005263.5(GFI1):c.1242C>T (p.His414=) rs142561847 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_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_152564.5(VPS13B):c.10868-8C>T rs770620321 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.2471C>T (p.Ser824Phe) rs145419141 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.5607G>A (p.Thr1869=) rs368851580 0.00016
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His) rs147099791 0.00016
NM_183235.3(RAB27A):c.*668A>G rs118003408 0.00016
NM_000760.4(CSF3R):c.1665G>T (p.Gly555=) rs139705992 0.00015
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu) rs755937467 0.00015
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=) rs373550277 0.00015
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_000760.4(CSF3R):c.1761C>T (p.Leu587=) rs149239453 0.00014
NM_000760.4(CSF3R):c.1864+12C>T rs368290894 0.00014
NM_000760.4(CSF3R):c.846G>T (p.Val282=) rs144166608 0.00014
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=) rs371347098 0.00014
NM_001972.4(ELANE):c.174C>T (p.Thr58=) rs199714513 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_005263.5(GFI1):c.759C>T (p.Gly253=) rs369149637 0.00014
NM_006118.4(HAX1):c.54-18A>G rs375210100 0.00014
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg) rs150767461 0.00014
NM_152564.5(VPS13B):c.11215+12C>T rs371237817 0.00014
NM_152564.5(VPS13B):c.1207-11A>G rs199984592 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.2748A>G (p.Pro916=) rs144830924 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_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.4065A>G (p.Ser1355=) rs371738691 0.00013
NM_000760.4(CSF3R):c.1509C>T (p.Ile503=) rs142503546 0.00013
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=) rs200713586 0.00013
NM_001164277.2(SLC37A4):c.148+20G>A rs782050642 0.00013
NM_152564.5(VPS13B):c.11215+13G>A rs370691974 0.00013
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=) rs200635121 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.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000081.4(LYST):c.716G>A (p.Ser239Asn) rs534142793 0.00012
NM_000760.4(CSF3R):c.1704C>T (p.Asn568=) rs373727880 0.00012
NM_152564.5(VPS13B):c.10868-16C>T rs371370357 0.00012
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=) rs142939294 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000081.4(LYST):c.6432A>G (p.Ser2144=) rs145080654 0.00011
NM_000081.4(LYST):c.9628-15C>T rs751859873 0.00011
NM_000377.3(WAS):c.206G>C (p.Cys69Ser) rs374283590 0.00011
NM_000377.3(WAS):c.266G>A (p.Gly89Asp) rs139857045 0.00011
NM_000377.3(WAS):c.593C>T (p.Ala198Val) rs200261212 0.00011
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=) rs542959160 0.00011
NM_003467.3(CXCR4):c.676C>T (p.Leu226=) rs180746866 0.00011
NM_003664.5(AP3B1):c.1650+18dup rs766343354 0.00011
NM_003664.5(AP3B1):c.1650+20C>G rs374194943 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=) rs766373133 0.00011
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=) rs373889030 0.00011
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr) rs143566455 0.00011
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=) rs370903187 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_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000081.4(LYST):c.7797C>A (p.Pro2599=) rs141827492 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_000760.4(CSF3R):c.1242C>T (p.Ala414=) rs146435131 0.00010
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=) rs202137454 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_006118.4(HAX1):c.505-14G>C rs200863707 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_024598.4(USB1):c.387G>C (p.Leu129=) rs542658449 0.00010
NM_138387.4(G6PC3):c.726C>T (p.His242=) rs147246080 0.00010
NM_152564.5(VPS13B):c.*1207G>C rs182082022 0.00010
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=) rs781485612 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=) rs766519309 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000377.3(WAS):c.351C>T (p.Phe117=) rs143299151 0.00009
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_000760.4(CSF3R):c.2427C>T (p.Asp809=) rs369185814 0.00009
NM_000760.4(CSF3R):c.361+17A>C rs373559200 0.00009
NM_001972.4(ELANE):c.417G>A (p.Pro139=) rs199702100 0.00009
NM_003664.5(AP3B1):c.942+17A>G rs377061172 0.00009
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_007259.5(VPS45):c.114A>G (p.Val38=) rs1180456081 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_007259.5(VPS45):c.1264-14C>G rs587647418 0.00009
NM_138387.4(G6PC3):c.264T>G (p.Gly88=) rs377286452 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=) rs727504217 0.00009
NM_152564.5(VPS13B):c.1564-16A>T rs373961851 0.00009
NM_152564.5(VPS13B):c.2013+20A>G rs199709281 0.00009
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=) rs144920754 0.00009
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=) rs543837370 0.00009
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=) rs148773425 0.00009
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=) rs374136243 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_152564.5(VPS13B):c.7950C>T (p.His2650=) rs61754503 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=) rs542823658 0.00009
NM_000081.4(LYST):c.6881+8T>C rs372075872 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000760.4(CSF3R):c.1185C>T (p.Cys395=) rs184980728 0.00008
NM_000760.4(CSF3R):c.1724-15G>A rs371706347 0.00008
NM_000760.4(CSF3R):c.885C>T (p.Cys295=) rs747273831 0.00008
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=) rs372405501 0.00008
NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773 0.00008
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=) rs144240072 0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_007259.5(VPS45):c.1473C>T (p.Gly491=) rs142640111 0.00008
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) rs529935686 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00008
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=) rs937213176 0.00008
NM_152564.5(VPS13B):c.8097+10T>C rs971919054 0.00008
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) rs776938018 0.00007
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) rs368678559 0.00007
NM_001164277.2(SLC37A4):c.626+25C>T rs533221443 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 0.00007
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=) rs774631707 0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_152564.5(VPS13B):c.9743-18C>G rs760570932 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.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_000081.4(LYST):c.5418C>T (p.His1806=) rs146990900 0.00006
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr) rs559869925 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.5919G>A (p.Leu1973=) rs748908539 0.00006
NM_000081.4(LYST):c.6258G>A (p.Glu2086=) rs771882274 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_000081.4(LYST):c.8205T>G (p.Ser2735=) rs147539199 0.00006
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967 0.00006
NM_000377.3(WAS):c.1339-3C>T rs373491815 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_000760.4(CSF3R):c.171G>A (p.Pro57=) rs200847455 0.00006
NM_000760.4(CSF3R):c.1812C>T (p.Ser604=) rs372180979 0.00006
NM_000760.4(CSF3R):c.234G>A (p.Leu78=) rs768137002 0.00006
NM_000760.4(CSF3R):c.60C>T (p.Pro20=) rs773341373 0.00006
NM_001164277.2(SLC37A4):c.1125-7_1125-6del rs782342989 0.00006
NM_001164277.2(SLC37A4):c.149-16G>A rs373027415 0.00006
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=) rs568517935 0.00006
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) rs781824710 0.00006
NM_001972.4(ELANE):c.375G>A (p.Gly125=) rs201512730 0.00006
NM_001972.4(ELANE):c.378G>A (p.Ser126=) rs202204133 0.00006
NM_001972.4(ELANE):c.519C>T (p.Asn173=) rs200393776 0.00006
NM_001972.4(ELANE):c.585C>T (p.Ala195=) rs777834651 0.00006
NM_001972.4(ELANE):c.597+10C>G rs201460728 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003664.5(AP3B1):c.2025T>C (p.Phe675=) rs370684531 0.00006
NM_003664.5(AP3B1):c.2578-12C>T rs532846547 0.00006
NM_004523.4(KIF11):c.3053A>G (p.His1018Arg) rs147164679 0.00006
NM_005263.5(GFI1):c.1091-5C>T rs1385981170 0.00006
NM_007259.5(VPS45):c.1314C>T (p.Asp438=) rs781797197 0.00006
NM_007259.5(VPS45):c.1620G>A (p.Thr540=) rs144696919 0.00006
NM_032492.4(JAGN1):c.189G>A (p.Leu63=) rs748678543 0.00006
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) rs767810900 0.00006
NM_152564.5(VPS13B):c.10868-11G>C rs373157768 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_152564.5(VPS13B):c.11052C>G (p.Leu3684=) rs373428916 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.11495+18C>T rs151025899 0.00006
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=) rs756539595 0.00006
NM_152564.5(VPS13B):c.1303-9G>A rs370251445 0.00006
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=) rs769466569 0.00006
NM_152564.5(VPS13B):c.2925T>C (p.His975=) rs535722018 0.00006
NM_152564.5(VPS13B):c.3083-19T>A rs544048511 0.00006
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=) rs144069822 0.00006
NM_152564.5(VPS13B):c.5077-14C>T rs181830964 0.00006
NM_152564.5(VPS13B):c.6046+18T>G rs1009720045 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_152564.5(VPS13B):c.8727C>T (p.Asp2909=) rs201517365 0.00006
NM_152564.5(VPS13B):c.9183+16A>G rs200565849 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=) rs780634043 0.00006
NM_152564.5(VPS13B):c.9948G>A (p.Val3316=) rs757595357 0.00006
NM_183235.3(RAB27A):c.255G>T (p.Thr85=) rs147130708 0.00006
NM_183235.3(RAB27A):c.468-4C>T rs371060436 0.00006
NM_000081.4(LYST):c.1089T>C (p.Ile363=) rs761334667 0.00005
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193 0.00005
NM_000377.3(WAS):c.361-17C>T rs782768055 0.00005
NM_000377.3(WAS):c.490A>C (p.Thr164Pro) rs781918613 0.00005
NM_000377.3(WAS):c.69C>T (p.Pro23=) rs1557006235 0.00005
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=) rs782777751 0.00005
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=) rs758536145 0.00005
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=) rs996440530 0.00005
NM_001164277.2(SLC37A4):c.985+290T>C rs781943252 0.00005
NM_001972.4(ELANE):c.68-19G>A rs199933756 0.00005
NM_003467.3(CXCR4):c.219G>A (p.Thr73=) rs909200339 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003664.5(AP3B1):c.603+20G>A rs377222228 0.00005
NM_005263.5(GFI1):c.924+17C>G rs781185536 0.00005
NM_007259.5(VPS45):c.577-5C>T rs1266646389 0.00005
NM_007259.5(VPS45):c.939G>A (p.Ala313=) rs142461153 0.00005
NM_138387.4(G6PC3):c.677+9C>T rs770887459 0.00005
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=) rs139227281 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=) rs149919865 0.00005
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_152564.5(VPS13B):c.2650+17C>T rs753268999 0.00005
NM_152564.5(VPS13B):c.291+19A>G rs200474579 0.00005
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=) rs528478636 0.00005
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=) rs772263007 0.00005
NM_152564.5(VPS13B):c.5909-14T>C rs377274392 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152564.5(VPS13B):c.9608G>C (p.Cys3203Ser) rs747611342 0.00005
NM_183235.3(RAB27A):c.276T>C (p.Ala92=) rs376589113 0.00005
NM_000081.4(LYST):c.2745T>G (p.Ser915=) rs200179826 0.00004
NM_000081.4(LYST):c.3465A>G (p.Gln1155=) rs142982293 0.00004
NM_000081.4(LYST):c.3876A>G (p.Val1292=) rs144664809 0.00004
NM_000081.4(LYST):c.3940-5T>C rs757967032 0.00004
NM_000081.4(LYST):c.5061T>C (p.Tyr1687=) rs80338658 0.00004
NM_000081.4(LYST):c.8607A>G (p.Gln2869=) rs369484787 0.00004
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=) rs1447131096 0.00004
NM_000760.4(CSF3R):c.1263G>A (p.Pro421=) rs768308980 0.00004
NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr) rs748675453 0.00004
NM_000760.4(CSF3R):c.1680C>G (p.Thr560=) rs748313890 0.00004
NM_000760.4(CSF3R):c.1872G>A (p.Ser624=) rs145218850 0.00004
NM_000760.4(CSF3R):c.673+20G>A rs926138175 0.00004
NM_000760.4(CSF3R):c.816G>A (p.Pro272=) rs200668866 0.00004
NM_001164277.2(SLC37A4):c.1124+25T>C rs782603352 0.00004
NM_001164277.2(SLC37A4):c.1125-41C>T rs782175115 0.00004
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=) rs376965474 0.00004
NM_001164277.2(SLC37A4):c.382-17C>T rs1369693461 0.00004
NM_001164277.2(SLC37A4):c.626+13C>T rs746096087 0.00004
NM_001164277.2(SLC37A4):c.871+17G>T rs199848791 0.00004
NM_001164277.2(SLC37A4):c.985+248G>A rs369907198 0.00004
NM_001972.4(ELANE):c.321C>T (p.Asn107=) rs200786414 0.00004
NM_001972.4(ELANE):c.333C>G (p.Pro111=) rs774932781 0.00004
NM_001972.4(ELANE):c.372C>T (p.Asn124=) rs200595736 0.00004
NM_001972.4(ELANE):c.380C>T (p.Ala127Val) rs781705775 0.00004
NM_001972.4(ELANE):c.456G>A (p.Leu152=) rs200599820 0.00004
NM_001972.4(ELANE):c.495C>T (p.Ile165=) rs200923638 0.00004
NM_001972.4(ELANE):c.564T>C (p.Thr188=) rs1183281178 0.00004
NM_001972.4(ELANE):c.711G>A (p.Gln237=) rs201714374 0.00004
NM_003467.3(CXCR4):c.87C>T (p.Phe29=) rs768296315 0.00004
NM_003664.5(AP3B1):c.1821T>C (p.Leu607=) rs768721394 0.00004
NM_003664.5(AP3B1):c.1837+16A>G rs757331102 0.00004
NM_003664.5(AP3B1):c.1838-5A>G rs779897317 0.00004
NM_003664.5(AP3B1):c.388C>T (p.Leu130=) rs138774723 0.00004
NM_003664.5(AP3B1):c.536+20del rs773391461 0.00004
NM_003664.5(AP3B1):c.648G>A (p.Pro216=) rs773924247 0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_005263.5(GFI1):c.252G>C (p.Ser84=) rs140302204 0.00004
NM_005263.5(GFI1):c.924+13C>T rs745901225 0.00004
NM_007259.5(VPS45):c.290-13T>G rs781872625 0.00004
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_007259.5(VPS45):c.577-17T>C rs367947281 0.00004
NM_007259.5(VPS45):c.822+7G>C rs782697127 0.00004
NM_138387.4(G6PC3):c.219-4C>A rs1378892385 0.00004
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) rs145419406 0.00004
NM_138387.4(G6PC3):c.516G>C (p.Val172=) rs763502623 0.00004
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) rs201749454 0.00004
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=) rs151315104 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10650C>T (p.His3550=) rs372367817 0.00004
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=) rs768029540 0.00004
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=) rs773474909 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=) rs367797468 0.00004
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=) rs751880506 0.00004
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=) rs760377055 0.00004
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=) rs763272836 0.00004
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=) rs533954733 0.00004
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00004
NM_152564.5(VPS13B):c.1302+12A>G rs373595907 0.00004
NM_152564.5(VPS13B):c.1564-15T>C rs367784958 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=) rs780448792 0.00004
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=) rs760800494 0.00004
NM_152564.5(VPS13B):c.2651-8C>A rs201628860 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.3082+9C>G rs529476662 0.00004
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=) rs375994361 0.00004
NM_152564.5(VPS13B):c.345C>T (p.Ser115=) rs372489158 0.00004
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=) rs140905518 0.00004
NM_152564.5(VPS13B):c.366G>A (p.Pro122=) rs373340298 0.00004
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala) rs199872639 0.00004
NM_152564.5(VPS13B):c.3843A>G (p.Pro1281=) rs766922292 0.00004
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=) rs754939057 0.00004
NM_152564.5(VPS13B):c.4950-18T>G rs188457078 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_152564.5(VPS13B):c.5077-13G>A rs376055963 0.00004
NM_152564.5(VPS13B):c.510C>T (p.Ser170=) rs749836132 0.00004
NM_152564.5(VPS13B):c.6047-10A>G rs761450531 0.00004
NM_152564.5(VPS13B):c.6658-8T>C rs1448547844 0.00004
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=) rs781046978 0.00004
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=) rs757256533 0.00004
NM_152564.5(VPS13B):c.8097+19A>G rs1200902916 0.00004
NM_152564.5(VPS13B):c.8994+16T>A rs764950051 0.00004
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=) rs574238919 0.00004
NM_152564.5(VPS13B):c.9742+18G>A rs747567587 0.00004
NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=) rs138221649 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=) rs754001219 0.00004
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=) rs201746251 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.10965G>C (p.Ala3655=) rs762254542 0.00003
NM_000081.4(LYST):c.2679T>G (p.Val893=) rs765192422 0.00003
NM_000081.4(LYST):c.3177T>C (p.Ala1059=) rs371576746 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.6264C>T (p.Ser2088=) rs748529967 0.00003
NM_000081.4(LYST):c.8259G>A (p.Ser2753=) rs116017878 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) rs143525004 0.00003
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=) rs150583937 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000377.3(WAS):c.594G>A (p.Ala198=) rs376545922 0.00003
NM_000760.4(CSF3R):c.1044C>T (p.Asp348=) rs766845092 0.00003
NM_000760.4(CSF3R):c.1224T>A (p.Leu408=) rs754281164 0.00003
NM_000760.4(CSF3R):c.1474+15G>C rs769098766 0.00003
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) rs374780980 0.00003
NM_000760.4(CSF3R):c.456A>G (p.Leu152=) rs373296999 0.00003
NM_000760.4(CSF3R):c.486-17G>A rs377125326 0.00003
NM_000760.4(CSF3R):c.625C>T (p.Leu209=) rs768328227 0.00003
NM_000760.4(CSF3R):c.90T>C (p.Ser30=) rs376890968 0.00003
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=) rs782713974 0.00003
NM_001164277.2(SLC37A4):c.381+15A>G rs1057520372 0.00003
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=) rs752687782 0.00003
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=) rs1470803048 0.00003
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=) rs781864019 0.00003
NM_001164277.2(SLC37A4):c.986-18C>T rs374784735 0.00003
NM_001972.4(ELANE):c.100C>T (p.Arg34Trp) rs201163886 0.00003
NM_001972.4(ELANE):c.201G>T (p.Ser67=) rs200254961 0.00003
NM_001972.4(ELANE):c.225-8C>T rs771866084 0.00003
NM_001972.4(ELANE):c.24G>A (p.Ala8=) rs199901033 0.00003
NM_001972.4(ELANE):c.367-7G>A rs201878637 0.00003
NM_001972.4(ELANE):c.627C>T (p.Asn209=) rs201664319 0.00003
NM_003467.3(CXCR4):c.420C>T (p.His140=) rs774159824 0.00003
NM_003664.5(AP3B1):c.1095+20G>A rs1003488988 0.00003
NM_003664.5(AP3B1):c.1473+11A>G rs373481590 0.00003
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=) rs551799202 0.00003
NM_003664.5(AP3B1):c.2992+10G>A rs375250754 0.00003
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=) rs746152289 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003664.5(AP3B1):c.603+19C>T rs201278348 0.00003
NM_005263.5(GFI1):c.1119C>T (p.Cys373=) rs780643435 0.00003
NM_005263.5(GFI1):c.804C>T (p.His268=) rs376949976 0.00003
NM_006118.4(HAX1):c.444T>C (p.Asp148=) rs114295590 0.00003
NM_006118.4(HAX1):c.594G>A (p.Pro198=) rs752302439 0.00003
NM_007259.5(VPS45):c.1272T>C (p.Ser424=) rs1476538589 0.00003
NM_007259.5(VPS45):c.756G>T (p.Val252=) rs375831361 0.00003
NM_007259.5(VPS45):c.780A>G (p.Arg260=) rs1301783999 0.00003
NM_032492.4(JAGN1):c.27G>A (p.Ala9=) rs764805098 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.536-10A>T rs866805011 0.00003
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=) rs763725361 0.00003
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=) rs779390295 0.00003
NM_152564.5(VPS13B):c.10713C>T (p.Leu3571=) rs756468150 0.00003
NM_152564.5(VPS13B):c.10725C>T (p.His3575=) rs757408143 0.00003
NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=) rs765577341 0.00003
NM_152564.5(VPS13B):c.10868-18C>T rs755945215 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=) rs755978513 0.00003
NM_152564.5(VPS13B):c.1206+23T>A rs745316537 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=) rs557250154 0.00003
NM_152564.5(VPS13B):c.2322C>T (p.Leu774=) rs376216240 0.00003
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=) rs377174760 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.2935-4C>T rs207469601 0.00003
NM_152564.5(VPS13B):c.3871-8C>T rs371508311 0.00003
NM_152564.5(VPS13B):c.450T>C (p.Asn150=) rs746257136 0.00003
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=) rs1196457576 0.00003
NM_152564.5(VPS13B):c.581-10T>C rs770058631 0.00003
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=) rs752917912 0.00003
NM_152564.5(VPS13B):c.723A>G (p.Thr241=) rs778049327 0.00003
NM_152564.5(VPS13B):c.8361+13G>A rs757732868 0.00003
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=) rs763701016 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152564.5(VPS13B):c.8793-13G>T rs374758899 0.00003
NM_152564.5(VPS13B):c.90A>G (p.Leu30=) rs771860546 0.00003
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=) rs373968887 0.00003
NM_152564.5(VPS13B):c.9942+9G>T rs942110632 0.00003
NM_152564.5(VPS13B):c.99A>G (p.Gly33=) rs775498611 0.00003
NM_183235.3(RAB27A):c.252A>G (p.Leu84=) rs4340274 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_183235.3(RAB27A):c.453C>T (p.Leu151=) rs753732362 0.00003
NM_183235.3(RAB27A):c.468-16T>C rs747032887 0.00003
NM_183235.3(RAB27A):c.474C>T (p.Pro158=) rs777485094 0.00003
NM_000081.4(LYST):c.10281C>T (p.Leu3427=) rs1362783408 0.00002
NM_000081.4(LYST):c.10416C>T (p.Tyr3472=) rs757982705 0.00002
NM_000081.4(LYST):c.111G>A (p.Thr37=) rs144446737 0.00002
NM_000081.4(LYST):c.2757G>A (p.Ser919=) rs753541871 0.00002
NM_000081.4(LYST):c.3354A>G (p.Arg1118=) rs777471673 0.00002
NM_000081.4(LYST):c.4455T>C (p.His1485=) rs372271452 0.00002
NM_000081.4(LYST):c.9834T>C (p.Thr3278=) rs901343967 0.00002
NM_000081.4(LYST):c.9926-9C>G rs772804757 0.00002
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470 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_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787 0.00002
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950 0.00002
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) rs1307143057 0.00002
NM_000377.3(WAS):c.1218C>T (p.Ser406=) rs370053372 0.00002
NM_000377.3(WAS):c.1245C>T (p.Leu415=) rs1557007301 0.00002
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) rs781903491 0.00002
NM_000377.3(WAS):c.1266C>T (p.Ala422=) rs782041815 0.00002
NM_000377.3(WAS):c.1476C>T (p.Gly492=) rs1161895393 0.00002
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) rs781790075 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000377.3(WAS):c.274-4C>T rs782527416 0.00002
NM_000377.3(WAS):c.390C>T (p.Asp130=) rs782593697 0.00002
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.575C>T (p.Pro192Leu) rs782745511 0.00002
NM_000760.4(CSF3R):c.1683C>T (p.His561=) rs771829515 0.00002
NM_000760.4(CSF3R):c.1947T>C (p.Cys649=) rs1005321266 0.00002
NM_000760.4(CSF3R):c.195G>A (p.Leu65=) rs369091565 0.00002
NM_000760.4(CSF3R):c.361+12C>T rs200681728 0.00002
NM_000760.4(CSF3R):c.48C>T (p.Ile16=) rs766497159 0.00002
NM_000760.4(CSF3R):c.673+16G>A rs938091790 0.00002
NM_000760.4(CSF3R):c.903G>A (p.Thr301=) rs746383447 0.00002
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=) rs782726848 0.00002
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=) rs782587864 0.00002
NM_001164277.2(SLC37A4):c.1124+18G>C rs1555190434 0.00002
NM_001164277.2(SLC37A4):c.149-7C>T rs1316874319 0.00002
NM_001164277.2(SLC37A4):c.382-10T>C rs914753772 0.00002
NM_001164277.2(SLC37A4):c.382-4A>C rs923058912 0.00002
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=) rs1309434778 0.00002
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=) rs745721191 0.00002
NM_001164277.2(SLC37A4):c.785+12A>G rs976964945 0.00002
NM_001972.4(ELANE):c.108G>A (p.Ala36=) rs886109432 0.00002
NM_001972.4(ELANE):c.219G>A (p.Ala73=) rs780340448 0.00002
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln) rs199659114 0.00002
NM_001972.4(ELANE):c.598-19A>G rs970584462 0.00002
NM_001972.4(ELANE):c.687C>T (p.Pro229=) rs199670861 0.00002
NM_003467.3(CXCR4):c.249C>T (p.Ala83=) rs1013459896 0.00002
NM_003467.3(CXCR4):c.270G>A (p.Thr90=) rs753770848 0.00002
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=) rs760881363 0.00002
NM_003664.5(AP3B1):c.1167+15A>G rs368393559 0.00002
NM_003664.5(AP3B1):c.1651-5A>G rs1356238571 0.00002
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=) rs754956851 0.00002
NM_003664.5(AP3B1):c.2700C>T (p.Val900=) rs756834284 0.00002
NM_003664.5(AP3B1):c.2895-19T>A rs779085657 0.00002
NM_003664.5(AP3B1):c.375+18T>A rs775724254 0.00002
NM_003664.5(AP3B1):c.943-9A>T rs776758618 0.00002
NM_005263.5(GFI1):c.498G>A (p.Ala166=) rs772031788 0.00002
NM_005263.5(GFI1):c.69A>G (p.Pro23=) rs369812626 0.00002
NM_005263.5(GFI1):c.772A>G (p.Ile258Val) rs755193129 0.00002
NM_006118.4(HAX1):c.225C>T (p.Phe75=) rs547500941 0.00002
NM_006118.4(HAX1):c.317-4G>T rs368305272 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.423T>C (p.Phe141=) rs200778148 0.00002
NM_006118.4(HAX1):c.429G>T (p.Gly143=) rs764127512 0.00002
NM_006118.4(HAX1):c.505-20T>C rs765259799 0.00002
NM_006118.4(HAX1):c.556+13G>A rs771282580 0.00002
NM_006118.4(HAX1):c.729C>T (p.His243=) rs145975391 0.00002
NM_007259.5(VPS45):c.1105-12A>G rs782626266 0.00002
NM_007259.5(VPS45):c.1359C>A (p.Leu453=) rs782429614 0.00002
NM_007259.5(VPS45):c.1401A>G (p.Gln467=) rs1553802459 0.00002
NM_007259.5(VPS45):c.1428T>C (p.His476=) rs782259938 0.00002
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=) rs150044678 0.00002
NM_007259.5(VPS45):c.1494-7A>G rs1435795274 0.00002
NM_007259.5(VPS45):c.1689A>G (p.Thr563=) rs782289649 0.00002
NM_007259.5(VPS45):c.228+8A>G rs782133423 0.00002
NM_007259.5(VPS45):c.378T>C (p.Tyr126=) rs782457677 0.00002
NM_007259.5(VPS45):c.702C>G (p.Ala234=) rs782301145 0.00002
NM_007259.5(VPS45):c.711C>T (p.His237=) rs782676481 0.00002
NM_007259.5(VPS45):c.96T>G (p.Thr32=) rs182111359 0.00002
NM_024598.4(USB1):c.111C>T (p.Pro37=) rs767672950 0.00002
NM_032492.4(JAGN1):c.12A>G (p.Arg4=) rs377365266 0.00002
NM_032492.4(JAGN1):c.30C>T (p.Ala10=) rs549030325 0.00002
NM_032492.4(JAGN1):c.432C>T (p.Ala144=) rs766336706 0.00002
NM_032492.4(JAGN1):c.480C>T (p.Ala160=) rs779442557 0.00002
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) rs201225696 0.00002
NM_138387.4(G6PC3):c.1032C>T (p.His344=) rs774174457 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138387.4(G6PC3):c.536-7C>G rs754683713 0.00002
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) rs758478386 0.00002
NM_152564.5(VPS13B):c.10062-7C>T rs1588785807 0.00002
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=) rs749865979 0.00002
NM_152564.5(VPS13B):c.10584G>A (p.Arg3528=) rs141266642 0.00002
NM_152564.5(VPS13B):c.10614G>A (p.Gly3538=) rs753338038 0.00002
NM_152564.5(VPS13B):c.11049C>T (p.Thr3683=) rs1474618669 0.00002
NM_152564.5(VPS13B):c.11058C>T (p.Ser3686=) rs1242117872 0.00002
NM_152564.5(VPS13B):c.11495+10T>C rs1250469602 0.00002
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=) rs755448442 0.00002
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=) rs757616720 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1303-10C>T rs748144840 0.00002
NM_152564.5(VPS13B):c.1303-12T>G rs776676353 0.00002
NM_152564.5(VPS13B):c.1425+8C>T rs758851977 0.00002
NM_152564.5(VPS13B):c.1776T>C (p.His592=) rs756818683 0.00002
NM_152564.5(VPS13B):c.2014-12A>G rs559491564 0.00002
NM_152564.5(VPS13B):c.2333+11C>A rs757148916 0.00002
NM_152564.5(VPS13B):c.2515+8C>T rs758789053 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.2650+10G>A rs1478294396 0.00002
NM_152564.5(VPS13B):c.2935-8C>G rs762645139 0.00002
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=) rs776213275 0.00002
NM_152564.5(VPS13B):c.3714C>T (p.Asn1238=) rs749086106 0.00002
NM_152564.5(VPS13B):c.3792A>G (p.Pro1264=) rs778016570 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.3870+20C>T rs569308241 0.00002
NM_152564.5(VPS13B):c.4224+560C>T rs368951087 0.00002
NM_152564.5(VPS13B):c.4224+724A>G rs780003978 0.00002
NM_152564.5(VPS13B):c.4225-10T>C rs758652475 0.00002
NM_152564.5(VPS13B):c.453A>G (p.Val151=) rs148436198 0.00002
NM_152564.5(VPS13B):c.4779T>C (p.Pro1593=) rs764443970 0.00002
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=) rs765924507 0.00002
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=) rs139459037 0.00002
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=) rs747547095 0.00002
NM_152564.5(VPS13B):c.6455-13A>G rs1832959231 0.00002
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=) rs760171272 0.00002
NM_152564.5(VPS13B):c.690C>T (p.Tyr230=) rs553150517 0.00002
NM_152564.5(VPS13B):c.6954A>G (p.Glu2318=) rs745811385 0.00002
NM_152564.5(VPS13B):c.69G>A (p.Pro23=) rs570877761 0.00002
NM_152564.5(VPS13B):c.732C>T (p.Asn244=) rs774354165 0.00002
NM_152564.5(VPS13B):c.7365C>T (p.Cys2455=) rs748588048 0.00002
NM_152564.5(VPS13B):c.7429+18A>G rs374929892 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_152564.5(VPS13B):c.7659A>C (p.Ala2553=) rs776995646 0.00002
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=) rs750908734 0.00002
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=) rs145460276 0.00002
NM_152564.5(VPS13B):c.7942-13T>G rs761317351 0.00002
NM_152564.5(VPS13B):c.7942-19T>A rs200318613 0.00002
NM_152564.5(VPS13B):c.8049T>C (p.Thr2683=) rs765550072 0.00002
NM_152564.5(VPS13B):c.8118G>A (p.Gln2706=) rs752661758 0.00002
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=) rs759728712 0.00002
NM_152564.5(VPS13B):c.8445+50del rs761647040 0.00002
NM_152564.5(VPS13B):c.8621+18C>T rs752131066 0.00002
NM_152564.5(VPS13B):c.8793-16G>A rs1454120026 0.00002
NM_152564.5(VPS13B):c.8793-4A>T rs1158582777 0.00002
NM_152564.5(VPS13B):c.9330+17G>A rs375248298 0.00002
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=) rs773831188 0.00002
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=) rs189680814 0.00002
NM_152564.5(VPS13B):c.9588T>C (p.Asn3196=) rs761906678 0.00002
NM_152564.5(VPS13B):c.9742+10A>G rs755760611 0.00002
NM_152564.5(VPS13B):c.9780C>T (p.Pro3260=) rs781671301 0.00002
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=) rs1397608904 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_183235.3(RAB27A):c.153+20A>G rs1370109364 0.00002
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558 0.00002
NM_000081.4(LYST):c.10110T>C (p.Ala3370=) rs886038227 0.00001
NM_000081.4(LYST):c.11085C>T (p.Leu3695=) rs767062870 0.00001
NM_000081.4(LYST):c.1176A>G (p.Ser392=) rs764088101 0.00001
NM_000081.4(LYST):c.159A>G (p.Leu53=) rs373917160 0.00001
NM_000081.4(LYST):c.1848C>T (p.Asn616=) rs376259384 0.00001
NM_000081.4(LYST):c.2181G>A (p.Gln727=) rs749804968 0.00001
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000081.4(LYST):c.3702C>A (p.Thr1234=) rs151187564 0.00001
NM_000081.4(LYST):c.3792G>A (p.Gly1264=) rs777580667 0.00001
NM_000081.4(LYST):c.387G>A (p.Leu129=) rs749353041 0.00001
NM_000081.4(LYST):c.4266C>A (p.Ala1422=) rs764207947 0.00001
NM_000081.4(LYST):c.4428C>T (p.Ser1476=) rs749585509 0.00001
NM_000081.4(LYST):c.5001G>A (p.Leu1667=) rs748942618 0.00001
NM_000081.4(LYST):c.5037T>C (p.Gly1679=) rs753293453 0.00001
NM_000081.4(LYST):c.5997C>T (p.Val1999=) rs778100106 0.00001
NM_000081.4(LYST):c.6225A>G (p.Pro2075=) rs761762580 0.00001
NM_000081.4(LYST):c.6882-7G>T rs771074733 0.00001
NM_000081.4(LYST):c.6931C>T (p.Leu2311=) rs764843145 0.00001
NM_000081.4(LYST):c.7628-8G>A rs1369714185 0.00001
NM_000081.4(LYST):c.7761A>G (p.Gln2587=) rs139917441 0.00001
NM_000081.4(LYST):c.7938C>T (p.Leu2646=) rs184411941 0.00001
NM_000081.4(LYST):c.8535+9A>G rs781747413 0.00001
NM_000081.4(LYST):c.8612+10T>G rs1363909678 0.00001
NM_000081.4(LYST):c.8922C>T (p.Leu2974=) rs1388855975 0.00001
NM_000081.4(LYST):c.9045-4A>G rs769310836 0.00001
NM_000081.4(LYST):c.9231G>A (p.Lys3077=) rs1328019463 0.00001
NM_000081.4(LYST):c.925C>A (p.Arg309=) rs370022675 0.00001
NM_000081.4(LYST):c.9720C>T (p.Ser3240=) rs773882115 0.00001
NM_000081.4(LYST):c.9795T>C (p.Phe3265=) rs1433367318 0.00001
NM_000081.4(LYST):c.9926-12C>T rs762744969 0.00001
NM_000116.5(TAFAZZIN):c.110-6C>G rs782099193 0.00001
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) rs782470471 0.00001
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 0.00001
NM_000116.5(TAFAZZIN):c.461-16G>C rs782759146 0.00001
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303 0.00001
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=) rs782498534 0.00001
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) rs781846964 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597 0.00001
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041 0.00001
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=) rs368990588 0.00001
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950 0.00001
NM_000377.3(WAS):c.1255C>A (p.Leu419Met) rs1422863482 0.00001
NM_000377.3(WAS):c.1303T>C (p.Leu435=) rs1557007338 0.00001
NM_000377.3(WAS):c.1338+8C>T rs782158640 0.00001
NM_000377.3(WAS):c.1339-4G>A rs782436940 0.00001
NM_000377.3(WAS):c.1407C>T (p.Ala469=) rs782264561 0.00001
NM_000377.3(WAS):c.1416C>T (p.His472=) rs377442612 0.00001
NM_000377.3(WAS):c.1425G>A (p.Gln475=) rs1351097717 0.00001
NM_000377.3(WAS):c.1479T>C (p.Asp493=) rs782452466 0.00001
NM_000377.3(WAS):c.360+8A>G rs1557006508 0.00001
NM_000377.3(WAS):c.411C>T (p.Phe137=) rs1474269671 0.00001
NM_000377.3(WAS):c.505+3_505+7dup rs1557006628 0.00001
NM_000377.3(WAS):c.849C>T (p.Asp283=) rs1557007034 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.954G>A (p.Pro318=) rs1366022019 0.00001
NM_000377.3(WAS):c.985C>G (p.Pro329Ala) rs1557007136 0.00001
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) rs763356452 0.00001
NM_000760.4(CSF3R):c.114G>A (p.Leu38=) rs765406291 0.00001
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) rs1306508815 0.00001
NM_000760.4(CSF3R):c.1608G>A (p.Lys536=) rs1196522809 0.00001
NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=) rs1650461433 0.00001
NM_000760.4(CSF3R):c.1725C>T (p.Ser575=) rs758984105 0.00001
NM_000760.4(CSF3R):c.1728C>T (p.Ala576=) rs1451236691 0.00001
NM_000760.4(CSF3R):c.1734G>T (p.Leu578=) rs1314251171 0.00001
NM_000760.4(CSF3R):c.180G>A (p.Gln60=) rs1200828641 0.00001
NM_000760.4(CSF3R):c.1926C>G (p.Leu642=) rs771240381 0.00001
NM_000760.4(CSF3R):c.2037G>A (p.Glu679=) rs1397528121 0.00001
NM_000760.4(CSF3R):c.2106T>C (p.Asp702=) rs1650346965 0.00001
NM_000760.4(CSF3R):c.2121G>A (p.Val707=) rs764603715 0.00001
NM_000760.4(CSF3R):c.2157C>T (p.Gly719=) rs768198697 0.00001
NM_000760.4(CSF3R):c.2187C>T (p.Leu729=) rs763256285 0.00001
NM_000760.4(CSF3R):c.2223A>G (p.Gln741=) rs756684252 0.00001
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) rs372773604 0.00001
NM_000760.4(CSF3R):c.485+19C>T rs1383387694 0.00001
NM_000760.4(CSF3R):c.558C>T (p.Cys186=) rs575622000 0.00001
NM_000760.4(CSF3R):c.64+7del rs750628335 0.00001
NM_000760.4(CSF3R):c.663C>T (p.Pro221=) rs1420508617 0.00001
NM_000760.4(CSF3R):c.78C>T (p.Cys26=) rs767458386 0.00001
NM_001109659.2(C16orf92):c.128G>A (p.Arg43Lys) rs375771294 0.00001
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=) rs1277712643 0.00001
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=) rs946752823 0.00001
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=) rs1483400314 0.00001
NM_001164277.2(SLC37A4):c.1124+49C>T rs782799385 0.00001
NM_001164277.2(SLC37A4):c.1124+8T>C rs377506675 0.00001
NM_001164277.2(SLC37A4):c.1125-29G>A rs1262126192 0.00001
NM_001164277.2(SLC37A4):c.1125-44G>A rs1256742179 0.00001
NM_001164277.2(SLC37A4):c.1125-53G>A rs1555190416 0.00001
NM_001164277.2(SLC37A4):c.1125-6T>C rs782323567 0.00001
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=) rs782074488 0.00001
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) rs1043721709 0.00001
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=) rs1310970870 0.00001
NM_001164277.2(SLC37A4):c.149-23C>T rs1283313486 0.00001
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=) rs1452761654 0.00001
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=) rs370153031 0.00001
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=) rs1478378942 0.00001
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=) rs546808955 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=) rs191768893 0.00001
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=) rs782358834 0.00001
NM_001164277.2(SLC37A4):c.382-16G>A rs778665353 0.00001
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=) rs767772187 0.00001
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=) rs1943620012 0.00001
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) rs776272750 0.00001
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=) rs745606440 0.00001
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=) rs751791093 0.00001
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=) rs1326476812 0.00001
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=) rs1943617167 0.00001
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=) rs1476372585 0.00001
NM_001164277.2(SLC37A4):c.626+12C>T rs549251533 0.00001
NM_001164277.2(SLC37A4):c.626+9C>T rs1316816882 0.00001
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=) rs1197991440 0.00001
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=) rs1256797588 0.00001
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=) rs1943586351 0.00001
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=) rs529075134 0.00001
NM_001164277.2(SLC37A4):c.785+13T>C rs1351380633 0.00001
NM_001164277.2(SLC37A4):c.785+16G>A rs1283553362 0.00001
NM_001164277.2(SLC37A4):c.786-10C>T rs782502549 0.00001
NM_001164277.2(SLC37A4):c.786-7A>G rs781887799 0.00001
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=) rs996156142 0.00001
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=) rs372837897 0.00001
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=) rs369860234 0.00001
NM_001164277.2(SLC37A4):c.871+7G>A rs782177602 0.00001
NM_001164277.2(SLC37A4):c.872-11T>C rs1265857875 0.00001
NM_001164277.2(SLC37A4):c.872-16G>A rs766656496 0.00001
NM_001164277.2(SLC37A4):c.872-6C>G rs781985446 0.00001
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) rs782326705 0.00001
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=) rs1388219398 0.00001
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=) rs782234184 0.00001
NM_001164277.2(SLC37A4):c.985+195C>T rs1189232257 0.00001
NM_001164277.2(SLC37A4):c.985+217C>T rs1213577149 0.00001
NM_001164277.2(SLC37A4):c.985+226C>T rs959584744 0.00001
NM_001164277.2(SLC37A4):c.985+245C>T rs1348642148 0.00001
NM_001164277.2(SLC37A4):c.985+246G>A rs1314659619 0.00001
NM_001164277.2(SLC37A4):c.985+270C>T rs782800127 0.00001
NM_001164277.2(SLC37A4):c.985+276G>A rs1555190629 0.00001
NM_001164277.2(SLC37A4):c.985+283A>G rs1009983005 0.00001
NM_001164277.2(SLC37A4):c.985+295G>A rs1208499204 0.00001
NM_001164277.2(SLC37A4):c.986-15C>T rs782640506 0.00001
NM_001164277.2(SLC37A4):c.986-8C>T rs782425309 0.00001
NM_001972.4(ELANE):c.102G>A (p.Arg34=) rs1241470202 0.00001
NM_001972.4(ELANE):c.168C>T (p.Gly56=) rs753213805 0.00001
NM_001972.4(ELANE):c.243G>T (p.Arg81=) rs768135268 0.00001
NM_001972.4(ELANE):c.345C>T (p.Leu115=) rs1479475108 0.00001
NM_001972.4(ELANE):c.366+19G>T rs1379344118 0.00001
NM_001972.4(ELANE):c.367-19T>C rs755889329 0.00001
NM_001972.4(ELANE):c.450G>A (p.Gln150=) rs761830204 0.00001
NM_001972.4(ELANE):c.492G>C (p.Gly164=) rs200050022 0.00001
NM_001972.4(ELANE):c.501C>T (p.Ser167=) rs756658547 0.00001
NM_001972.4(ELANE):c.600G>A (p.Gly200=) rs144391144 0.00001
NM_001972.4(ELANE):c.63G>T (p.Leu21=) rs779360541 0.00001
NM_001972.4(ELANE):c.702G>A (p.Pro234=) rs202059602 0.00001
NM_001972.4(ELANE):c.786G>A (p.Pro262=) rs762273987 0.00001
NM_001972.4(ELANE):c.9C>T (p.Leu3=) rs1199528225 0.00001
NM_003467.3(CXCR4):c.15+18C>T rs774545896 0.00001
NM_003467.3(CXCR4):c.16-24T>C rs776615103 0.00001
NM_003467.3(CXCR4):c.39C>G (p.Thr13=) rs375868851 0.00001
NM_003467.3(CXCR4):c.477C>T (p.Gly159=) rs1259138331 0.00001
NM_003467.3(CXCR4):c.528C>T (p.Asn176=) rs113338664 0.00001
NM_003664.5(AP3B1):c.1020G>A (p.Val340=) rs145787996 0.00001
NM_003664.5(AP3B1):c.1040+14T>A rs1355146687 0.00001
NM_003664.5(AP3B1):c.1040+20A>G rs369301345 0.00001
NM_003664.5(AP3B1):c.1041-9G>T rs1474245373 0.00001
NM_003664.5(AP3B1):c.1095+19C>T rs377078977 0.00001
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=) rs752592265 0.00001
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=) rs746601394 0.00001
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=) rs1468639815 0.00001
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=) rs1174063218 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.1467T>C (p.Ser489=) rs772984182 0.00001
NM_003664.5(AP3B1):c.1650+14G>A rs753974452 0.00001
NM_003664.5(AP3B1):c.1837+10G>A rs1028071929 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=) rs368771979 0.00001
NM_003664.5(AP3B1):c.1968+9A>G rs750895201 0.00001
NM_003664.5(AP3B1):c.205-10T>A rs1340696750 0.00001
NM_003664.5(AP3B1):c.2250-13C>T rs774882416 0.00001
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=) rs747086403 0.00001
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=) rs1471301912 0.00001
NM_003664.5(AP3B1):c.2809+14C>A rs754832294 0.00001
NM_003664.5(AP3B1):c.2809+16C>T rs951058281 0.00001
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=) rs1263221940 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_003664.5(AP3B1):c.2922T>C (p.Asn974=) rs1256709729 0.00001
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=) rs1199672973 0.00001
NM_003664.5(AP3B1):c.2992+20T>C rs755171790 0.00001
NM_003664.5(AP3B1):c.306G>C (p.Leu102=) rs746322233 0.00001
NM_003664.5(AP3B1):c.536+9A>G rs771528600 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003664.5(AP3B1):c.855C>T (p.Asp285=) rs79932334 0.00001
NM_003664.5(AP3B1):c.870G>A (p.Pro290=) rs566729844 0.00001
NM_003664.5(AP3B1):c.954A>C (p.Ala318=) rs1744193916 0.00001
NM_005263.5(GFI1):c.1251G>A (p.Thr417=) rs757855720 0.00001
NM_005263.5(GFI1):c.303G>A (p.Ser101=) rs766935424 0.00001
NM_005263.5(GFI1):c.336C>A (p.Ala112=) rs1255866723 0.00001
NM_005263.5(GFI1):c.390T>C (p.Ser130=) rs982399913 0.00001
NM_005263.5(GFI1):c.39C>T (p.His13=) rs371677124 0.00001
NM_005263.5(GFI1):c.419G>A (p.Arg140Gln) rs551351361 0.00001
NM_005263.5(GFI1):c.516G>T (p.Arg172=) rs1391305912 0.00001
NM_005263.5(GFI1):c.528C>T (p.Gly176=) rs1184904073 0.00001
NM_005263.5(GFI1):c.576C>G (p.Thr192=) rs181638652 0.00001
NM_005263.5(GFI1):c.594G>A (p.Gly198=) rs1470754174 0.00001
NM_005263.5(GFI1):c.666C>T (p.Tyr222=) rs771550817 0.00001
NM_005263.5(GFI1):c.924+11G>A rs1471107230 0.00001
NM_005263.5(GFI1):c.924+14G>A rs1007325566 0.00001
NM_005263.5(GFI1):c.948C>A (p.Ile316=) rs372553729 0.00001
NM_006118.4(HAX1):c.12T>C (p.Phe4=) rs1490644075 0.00001
NM_006118.4(HAX1):c.180A>G (p.Glu60=) rs950658160 0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=) rs1684867511 0.00001
NM_006118.4(HAX1):c.270C>T (p.Ser90=) rs754177724 0.00001
NM_006118.4(HAX1):c.316+19G>A rs747989063 0.00001
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.393G>A (p.Lys131=) rs763126649 0.00001
NM_006118.4(HAX1):c.459C>T (p.Ser153=) rs1306497969 0.00001
NM_006118.4(HAX1):c.465A>G (p.Gln155=) rs1684879648 0.00001
NM_006118.4(HAX1):c.504+7A>G rs1684881000 0.00001
NM_006118.4(HAX1):c.504+7dup rs1300694878 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.53+9A>C rs756747610 0.00001
NM_006118.4(HAX1):c.54-4T>A rs908920404 0.00001
NM_006118.4(HAX1):c.54-6T>C rs556100256 0.00001
NM_006118.4(HAX1):c.549G>A (p.Glu183=) rs535226830 0.00001
NM_006118.4(HAX1):c.557-19C>T rs1050683276 0.00001
NM_006118.4(HAX1):c.57C>T (p.His19=) rs941774283 0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637 0.00001
NM_006118.4(HAX1):c.660T>C (p.Asp220=) rs746250096 0.00001
NM_006118.4(HAX1):c.664-10C>T rs369087332 0.00001
NM_006118.4(HAX1):c.755-6C>T rs749368917 0.00001
NM_006118.4(HAX1):c.795T>C (p.Phe265=) rs886038568 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.822T>C (p.Arg274=) rs756399040 0.00001
NM_006118.4(HAX1):c.837G>A (p.Arg279=) rs780915317 0.00001
NM_007259.5(VPS45):c.1002G>C (p.Val334=) rs1655788033 0.00001
NM_007259.5(VPS45):c.1014G>A (p.Leu338=) rs1035463342 0.00001
NM_007259.5(VPS45):c.1023G>A (p.Leu341=) rs781805887 0.00001
NM_007259.5(VPS45):c.1104+10A>G rs1259869305 0.00001
NM_007259.5(VPS45):c.1164G>A (p.Val388=) rs370958835 0.00001
NM_007259.5(VPS45):c.1179A>G (p.Leu393=) rs1656349407 0.00001
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) rs782431885 0.00001
NM_007259.5(VPS45):c.1260A>G (p.Arg420=) rs1656355917 0.00001
NM_007259.5(VPS45):c.1326C>T (p.Pro442=) rs371945894 0.00001
NM_007259.5(VPS45):c.1335T>C (p.Ala445=) rs1330742139 0.00001
NM_007259.5(VPS45):c.1338G>A (p.Val446=) rs1656378115 0.00001
NM_007259.5(VPS45):c.1344C>T (p.Ile448=) rs933924434 0.00001
NM_007259.5(VPS45):c.1372-9C>T rs201173713 0.00001
NM_007259.5(VPS45):c.1372-9_1372-8del rs782327109 0.00001
NM_007259.5(VPS45):c.1458A>G (p.Leu486=) rs782320365 0.00001
NM_007259.5(VPS45):c.1625+19T>G rs1003447515 0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=) rs782546296 0.00001
NM_007259.5(VPS45):c.210T>C (p.Cys70=) rs782670487 0.00001
NM_007259.5(VPS45):c.229-19C>T rs1400300011 0.00001
NM_007259.5(VPS45):c.234T>C (p.Asn78=) rs782045429 0.00001
NM_007259.5(VPS45):c.290-11_290-10del rs1389688490 0.00001
NM_007259.5(VPS45):c.345A>G (p.Glu115=) rs1655380604 0.00001
NM_007259.5(VPS45):c.439-14T>G rs781842590 0.00001
NM_007259.5(VPS45):c.48G>A (p.Glu16=) rs1250860828 0.00001
NM_007259.5(VPS45):c.624G>A (p.Glu208=) rs782290162 0.00001
NM_007259.5(VPS45):c.679C>T (p.Leu227=) rs1655478636 0.00001
NM_007259.5(VPS45):c.759G>A (p.Pro253=) rs782131359 0.00001
NM_007259.5(VPS45):c.765C>T (p.Ile255=) rs1329207920 0.00001
NM_007259.5(VPS45):c.78C>T (p.Leu26=) rs1233278099 0.00001
NM_007259.5(VPS45):c.823-8T>C rs1019641850 0.00001
NM_007259.5(VPS45):c.906G>A (p.Gln302=) rs781829979 0.00001
NM_007259.5(VPS45):c.915A>G (p.Leu305=) rs1385543985 0.00001
NM_007259.5(VPS45):c.930C>T (p.Asp310=) rs145369624 0.00001
NM_007259.5(VPS45):c.937-7A>G rs1177905127 0.00001
NM_007259.5(VPS45):c.94-5T>C rs1553796313 0.00001
NM_007259.5(VPS45):c.957A>C (p.Pro319=) rs587769473 0.00001
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=) rs1246500568 0.00001
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=) rs1227316936 0.00001
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=) rs949322913 0.00001
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=) rs1563767252 0.00001
NM_032492.4(JAGN1):c.117G>A (p.Lys39=) rs763900045 0.00001
NM_032492.4(JAGN1):c.123C>A (p.Ile41=) rs140024249 0.00001
NM_032492.4(JAGN1):c.168C>T (p.Ser56=) rs1265469155 0.00001
NM_032492.4(JAGN1):c.330T>C (p.Phe110=) rs2082574589 0.00001
NM_032492.4(JAGN1):c.39C>T (p.Asp13=) rs751452713 0.00001
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys) rs200485958 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_032492.4(JAGN1):c.90-9G>C rs762370289 0.00001
NM_138387.4(G6PC3):c.132C>T (p.Pro44=) rs200427598 0.00001
NM_138387.4(G6PC3):c.21G>T (p.Ala7=) rs1322272335 0.00001
NM_138387.4(G6PC3):c.399G>A (p.Val133=) rs1191355690 0.00001
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) rs778761991 0.00001
NM_138387.4(G6PC3):c.536-12C>A rs766176177 0.00001
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) rs2049967702 0.00001
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) rs1290235695 0.00001
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) rs766506200 0.00001
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) rs756698645 0.00001
NM_138387.4(G6PC3):c.677+10G>A rs776838775 0.00001
NM_138387.4(G6PC3):c.678-14C>A rs1418045272 0.00001
NM_138387.4(G6PC3):c.879G>A (p.Leu293=) rs780718603 0.00001
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) rs142944376 0.00001
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) rs752964083 0.00001
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=) rs767423737 0.00001
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=) rs1816115503 0.00001
NM_152564.5(VPS13B):c.10062-6C>T rs745353782 0.00001
NM_152564.5(VPS13B):c.10116A>G (p.Ala3372=) rs371573594 0.00001
NM_152564.5(VPS13B):c.10119G>A (p.Val3373=) rs1159607522 0.00001
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=) rs374129601 0.00001
NM_152564.5(VPS13B):c.10221G>C (p.Gly3407=) rs746473073 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.10359C>A (p.Pro3453=) rs1444426292 0.00001
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=) rs751254612 0.00001
NM_152564.5(VPS13B):c.10470C>A (p.Ile3490=) rs372875604 0.00001
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=) rs1302374134 0.00001
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=) rs1373791263 0.00001
NM_152564.5(VPS13B):c.10539A>G (p.Val3513=) rs753290639 0.00001
NM_152564.5(VPS13B):c.10545C>T (p.Tyr3515=) rs758842658 0.00001
NM_152564.5(VPS13B):c.10548C>A (p.Ile3516=) rs780558517 0.00001
NM_152564.5(VPS13B):c.10719C>T (p.Ser3573=) rs888814815 0.00001
NM_152564.5(VPS13B):c.10764T>C (p.Pro3588=) rs1477900241 0.00001
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=) rs547516730 0.00001
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=) rs541332942 0.00001
NM_152564.5(VPS13B):c.10797C>T (p.Ile3599=) rs769445328 0.00001
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=) rs1265301398 0.00001
NM_152564.5(VPS13B):c.10857T>C (p.Leu3619=) rs183080498 0.00001
NM_152564.5(VPS13B):c.10867+10C>T rs1239193804 0.00001
NM_152564.5(VPS13B):c.10867+7A>G rs1378858300 0.00001
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=) rs770336524 0.00001
NM_152564.5(VPS13B):c.10896T>C (p.Leu3632=) rs774248863 0.00001
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=) rs753373848 0.00001
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=) rs781760595 0.00001
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=) rs773394643 0.00001
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=) rs375676564 0.00001
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=) rs199748413 0.00001
NM_152564.5(VPS13B):c.11044+20G>C rs1444976203 0.00001
NM_152564.5(VPS13B):c.11045-10G>T rs769628992 0.00001
NM_152564.5(VPS13B):c.11045-6C>T rs1250558576 0.00001
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=) rs1178600682 0.00001
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=) rs185477101 0.00001
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=) rs777015545 0.00001
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=) rs774143549 0.00001
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=) rs1284354271 0.00001
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=) rs766658666 0.00001
NM_152564.5(VPS13B):c.11215+14G>C rs777843630 0.00001
NM_152564.5(VPS13B):c.11215+8G>T rs1285906381 0.00001
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=) rs865965849 0.00001
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=) rs1847925535 0.00001
NM_152564.5(VPS13B):c.11393-9T>C rs1370103041 0.00001
NM_152564.5(VPS13B):c.11398T>C (p.Leu3800=) rs1817365435 0.00001
NM_152564.5(VPS13B):c.11442G>A (p.Gln3814=) rs1249346975 0.00001
NM_152564.5(VPS13B):c.11457T>C (p.His3819=) rs763130797 0.00001
NM_152564.5(VPS13B):c.11493C>T (p.Val3831=) rs1406602437 0.00001
NM_152564.5(VPS13B):c.11495+7_11495+8del rs1588810879 0.00001
NM_152564.5(VPS13B):c.114C>T (p.Ser38=) rs768496696 0.00001
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=) rs1343441630 0.00001
NM_152564.5(VPS13B):c.11577T>C (p.His3859=) rs771158927 0.00001
NM_152564.5(VPS13B):c.11622T>C (p.Ser3874=) rs1429011710 0.00001
NM_152564.5(VPS13B):c.11649C>G (p.Ala3883=) rs781535467 0.00001
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=) rs368092348 0.00001
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=) rs749637946 0.00001
NM_152564.5(VPS13B):c.11706A>G (p.Thr3902=) rs532340798 0.00001
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=) rs764961174 0.00001
NM_152564.5(VPS13B):c.11746-11T>C rs947865858 0.00001
NM_152564.5(VPS13B):c.11802C>T (p.Tyr3934=) rs1302197053 0.00001
NM_152564.5(VPS13B):c.11811G>A (p.Lys3937=) rs1195954184 0.00001
NM_152564.5(VPS13B):c.11874A>G (p.Ala3958=) rs1400113189 0.00001
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=) rs1817662607 0.00001
NM_152564.5(VPS13B):c.11949A>G (p.Lys3983=) rs745447477 0.00001
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=) rs773765592 0.00001
NM_152564.5(VPS13B):c.1207-10T>C rs1293563176 0.00001
NM_152564.5(VPS13B):c.1302+14A>G rs750969500 0.00001
NM_152564.5(VPS13B):c.1303-15C>T rs768921663 0.00001
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=) rs1395837319 0.00001
NM_152564.5(VPS13B):c.1425+14C>T rs1336315374 0.00001
NM_152564.5(VPS13B):c.148-10G>A rs779842255 0.00001
NM_152564.5(VPS13B):c.1563+10T>C rs777964709 0.00001
NM_152564.5(VPS13B):c.1563+7G>C rs1185654925 0.00001
NM_152564.5(VPS13B):c.1593A>G (p.Gln531=) rs1435002712 0.00001
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=) rs1266552493 0.00001
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=) rs1193051483 0.00001
NM_152564.5(VPS13B):c.1629A>G (p.Thr543=) rs760975110 0.00001
NM_152564.5(VPS13B):c.162A>G (p.Pro54=) rs747961838 0.00001
NM_152564.5(VPS13B):c.1696T>C (p.Leu566=) rs767273023 0.00001
NM_152564.5(VPS13B):c.1779G>A (p.Arg593=) rs1810520439 0.00001
NM_152564.5(VPS13B):c.1887G>A (p.Val629=) rs138291421 0.00001
NM_152564.5(VPS13B):c.1953A>G (p.Thr651=) rs756544361 0.00001
NM_152564.5(VPS13B):c.2013+17G>A rs1161780601 0.00001
NM_152564.5(VPS13B):c.2014-19G>A rs945362630 0.00001
NM_152564.5(VPS13B):c.2014-20C>T rs765582455 0.00001
NM_152564.5(VPS13B):c.2037T>C (p.Thr679=) rs1275629837 0.00001
NM_152564.5(VPS13B):c.207A>T (p.Val69=) rs772922484 0.00001
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=) rs1269866492 0.00001
NM_152564.5(VPS13B):c.2160A>G (p.Gln720=) rs1272445028 0.00001
NM_152564.5(VPS13B):c.2175G>A (p.Leu725=) rs1211430808 0.00001
NM_152564.5(VPS13B):c.2208+14A>G rs745575182 0.00001
NM_152564.5(VPS13B):c.2208+20T>C rs1396217310 0.00001
NM_152564.5(VPS13B):c.2209-8T>C rs1426142075 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.2333+10A>G rs933132905 0.00001
NM_152564.5(VPS13B):c.2333+20A>G rs758171682 0.00001
NM_152564.5(VPS13B):c.2334-13T>G rs768924726 0.00001
NM_152564.5(VPS13B):c.234A>G (p.Pro78=) rs372597619 0.00001
NM_152564.5(VPS13B):c.2475A>G (p.Ala825=) rs1334203745 0.00001
NM_152564.5(VPS13B):c.2516-5A>T rs756282496 0.00001
NM_152564.5(VPS13B):c.2535C>T (p.Pro845=) rs1241992024 0.00001
NM_152564.5(VPS13B):c.2536C>T (p.Leu846=) rs934545731 0.00001
NM_152564.5(VPS13B):c.2646C>G (p.Ala882=) rs369124790 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.2685T>A (p.Leu895=) rs762130581 0.00001
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=) rs765522219 0.00001
NM_152564.5(VPS13B):c.2733T>C (p.Asn911=) rs1818828803 0.00001
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=) rs192509060 0.00001
NM_152564.5(VPS13B):c.2853A>C (p.Gly951=) rs374898875 0.00001
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=) rs760792770 0.00001
NM_152564.5(VPS13B):c.2886G>A (p.Thr962=) rs753837683 0.00001
NM_152564.5(VPS13B):c.288A>T (p.Ile96=) rs1842840884 0.00001
NM_152564.5(VPS13B):c.2935-12G>T rs1394216324 0.00001
NM_152564.5(VPS13B):c.297C>T (p.Asp99=) rs1295312029 0.00001
NM_152564.5(VPS13B):c.3030A>G (p.Ser1010=) rs749186173 0.00001
NM_152564.5(VPS13B):c.3039C>G (p.Ala1013=) rs1369894896 0.00001
NM_152564.5(VPS13B):c.3051C>T (p.Ala1017=) rs1296198571 0.00001
NM_152564.5(VPS13B):c.3084A>G (p.Glu1028=) rs150505597 0.00001
NM_152564.5(VPS13B):c.318T>C (p.Asn106=) rs1846415935 0.00001
NM_152564.5(VPS13B):c.3210+11A>T rs191511518 0.00001
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=) rs1339519603 0.00001
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=) rs371674854 0.00001
NM_152564.5(VPS13B):c.3270A>G (p.Thr1090=) rs1307720386 0.00001
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=) rs367791771 0.00001
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=) rs753370533 0.00001
NM_152564.5(VPS13B):c.339T>G (p.Ala113=) rs200619753 0.00001
NM_152564.5(VPS13B):c.3441A>G (p.Glu1147=) rs767433370 0.00001
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=) rs1014978049 0.00001
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=) rs779726673 0.00001
NM_152564.5(VPS13B):c.3522C>T (p.Cys1174=) rs772078846 0.00001
NM_152564.5(VPS13B):c.3523C>T (p.Leu1175=) rs775549294 0.00001
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=) rs761707088 0.00001
NM_152564.5(VPS13B):c.3570A>G (p.Gln1190=) rs1489420306 0.00001
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=) rs779156454 0.00001
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=) rs761670389 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.378G>A (p.Gln126=) rs1281161057 0.00001
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=) rs745698032 0.00001
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile) rs567003932 0.00001
NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=) rs779666289 0.00001
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=) rs975356010 0.00001
NM_152564.5(VPS13B):c.4020A>G (p.Pro1340=) rs1821247586 0.00001
NM_152564.5(VPS13B):c.4038C>G (p.Gly1346=) rs1821248178 0.00001
NM_152564.5(VPS13B):c.4042+7G>T rs772651692 0.00001
NM_152564.5(VPS13B):c.4101A>T (p.Val1367=) rs1159683768 0.00001
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=) rs763157781 0.00001
NM_152564.5(VPS13B):c.4224+6A>G rs1173901763 0.00001
NM_152564.5(VPS13B):c.4260G>A (p.Gln1420=) rs376118865 0.00001
NM_152564.5(VPS13B):c.4266A>G (p.Gly1422=) rs1317212158 0.00001
NM_152564.5(VPS13B):c.4308C>T (p.Val1436=) rs762315814 0.00001
NM_152564.5(VPS13B):c.4386T>C (p.His1462=) rs1821775372 0.00001
NM_152564.5(VPS13B):c.4518T>C (p.Gly1506=) rs1821779613 0.00001
NM_152564.5(VPS13B):c.4521G>A (p.Gln1507=) rs779519268 0.00001
NM_152564.5(VPS13B):c.4545A>T (p.Thr1515=) rs763518845 0.00001
NM_152564.5(VPS13B):c.4633+14A>G rs763556763 0.00001
NM_152564.5(VPS13B):c.4633+17T>C rs941869950 0.00001
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=) rs368552225 0.00001
NM_152564.5(VPS13B):c.4668G>A (p.Leu1556=) rs1322804531 0.00001
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=) rs1380489766 0.00001
NM_152564.5(VPS13B):c.4902T>C (p.Thr1634=) rs1420456509 0.00001
NM_152564.5(VPS13B):c.4932G>A (p.Glu1644=) rs775791528 0.00001
NM_152564.5(VPS13B):c.4950-10dup rs761293145 0.00001
NM_152564.5(VPS13B):c.501C>T (p.Ile167=) rs765288271 0.00001
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=) rs1201956279 0.00001
NM_152564.5(VPS13B):c.513C>T (p.Val171=) rs1846845460 0.00001
NM_152564.5(VPS13B):c.5157A>G (p.Gln1719=) rs1349630576 0.00001
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=) rs761688743 0.00001
NM_152564.5(VPS13B):c.5196G>A (p.Leu1732=) rs750269923 0.00001
NM_152564.5(VPS13B):c.5220+10A>C rs1221192419 0.00001
NM_152564.5(VPS13B):c.5220+8T>C rs78899648 0.00001
NM_152564.5(VPS13B):c.5221-5T>C rs761788793 0.00001
NM_152564.5(VPS13B):c.5355G>A (p.Gln1785=) rs1172785221 0.00001
NM_152564.5(VPS13B):c.5385C>T (p.Ala1795=) rs371961319 0.00001
NM_152564.5(VPS13B):c.5466A>G (p.Ser1822=) rs770813780 0.00001
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=) rs774190999 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.5478T>C (p.Tyr1826=) rs1300751748 0.00001
NM_152564.5(VPS13B):c.5484T>C (p.Cys1828=) rs1177742095 0.00001
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=) rs767953687 0.00001
NM_152564.5(VPS13B):c.5541G>A (p.Lys1847=) rs771725660 0.00001
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=) rs1379522761 0.00001
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=) rs1417569777 0.00001
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=) rs1338773440 0.00001
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=) rs765209957 0.00001
NM_152564.5(VPS13B):c.5832C>T (p.His1944=) rs372340783 0.00001
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=) rs761911534 0.00001
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=) rs773156709 0.00001
NM_152564.5(VPS13B):c.5909-10G>A rs769191915 0.00001
NM_152564.5(VPS13B):c.5909-8C>T rs369342604 0.00001
NM_152564.5(VPS13B):c.5964A>G (p.Thr1988=) rs373595694 0.00001
NM_152564.5(VPS13B):c.5982C>T (p.Asp1994=) rs759538241 0.00001
NM_152564.5(VPS13B):c.5988A>G (p.Lys1996=) rs767548464 0.00001
NM_152564.5(VPS13B):c.6047-4A>G rs764928258 0.00001
NM_152564.5(VPS13B):c.6047-6C>T rs1386160206 0.00001
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=) rs377724023 0.00001
NM_152564.5(VPS13B):c.6147C>T (p.His2049=) rs770132791 0.00001
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=) rs1315907540 0.00001
NM_152564.5(VPS13B):c.6258T>C (p.His2086=) rs1472821351 0.00001
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=) rs747262961 0.00001
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=) rs769787067 0.00001
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=) rs1359924343 0.00001
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=) rs141845131 0.00001
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=) rs773555887 0.00001
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=) rs753694921 0.00001
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=) rs779788114 0.00001
NM_152564.5(VPS13B):c.6588C>T (p.His2196=) rs1460052962 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6600A>G (p.Pro2200=) rs1259627712 0.00001
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=) rs746640467 0.00001
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=) rs924902847 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=) rs753494412 0.00001
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=) rs778096388 0.00001
NM_152564.5(VPS13B):c.6948T>C (p.Tyr2316=) rs774332625 0.00001
NM_152564.5(VPS13B):c.69G>C (p.Pro23=) rs570877761 0.00001
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=) rs201133836 0.00001
NM_152564.5(VPS13B):c.7059T>C (p.Cys2353=) rs1048602429 0.00001
NM_152564.5(VPS13B):c.7063T>C (p.Leu2355=) rs1217104122 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.7167G>A (p.Val2389=) rs145846582 0.00001
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=) rs928101727 0.00001
NM_152564.5(VPS13B):c.7247+9T>C rs545008110 0.00001
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=) rs1811763314 0.00001
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=) rs545012804 0.00001
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=) rs746175640 0.00001
NM_152564.5(VPS13B):c.750A>G (p.Pro250=) rs771965319 0.00001
NM_152564.5(VPS13B):c.763-10C>T rs375512611 0.00001
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=) rs1253906756 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.7722A>C (p.Val2574=) rs1811878366 0.00001
NM_152564.5(VPS13B):c.7734G>A (p.Gln2578=) rs1237963374 0.00001
NM_152564.5(VPS13B):c.7824G>C (p.Val2608=) rs1212084620 0.00001
NM_152564.5(VPS13B):c.7851G>A (p.Leu2617=) rs920428153 0.00001
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=) rs772064414 0.00001
NM_152564.5(VPS13B):c.78A>G (p.Leu26=) rs745980143 0.00001
NM_152564.5(VPS13B):c.7938A>G (p.Pro2646=) rs768082312 0.00001
NM_152564.5(VPS13B):c.7942-10T>C rs1392078176 0.00001
NM_152564.5(VPS13B):c.7942-7T>C rs200896111 0.00001
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=) rs758430817 0.00001
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=) rs756420442 0.00001
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=) rs777019428 0.00001
NM_152564.5(VPS13B):c.813G>C (p.Leu271=) rs1563548958 0.00001
NM_152564.5(VPS13B):c.8160C>A (p.Val2720=) rs373348061 0.00001
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=) rs758044842 0.00001
NM_152564.5(VPS13B):c.8304C>T (p.Asp2768=) rs1464962948 0.00001
NM_152564.5(VPS13B):c.8310A>G (p.Ser2770=) rs982023622 0.00001
NM_152564.5(VPS13B):c.8343G>A (p.Glu2781=) rs1372155157 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8382C>T (p.Ser2794=) rs1350773456 0.00001
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=) rs1221576628 0.00001
NM_152564.5(VPS13B):c.8445+19C>T rs377331722 0.00001
NM_152564.5(VPS13B):c.8446-10A>G rs1009617201 0.00001
NM_152564.5(VPS13B):c.8446-8T>A rs774202116 0.00001
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=) rs750875099 0.00001
NM_152564.5(VPS13B):c.8595T>C (p.Leu2865=) rs761233089 0.00001
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=) rs1364307723 0.00001
NM_152564.5(VPS13B):c.8694A>G (p.Val2898=) rs1482608670 0.00001
NM_152564.5(VPS13B):c.8697C>T (p.His2899=) rs375911218 0.00001
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=) rs1316265619 0.00001
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=) rs1814245219 0.00001
NM_152564.5(VPS13B):c.8793-6G>T rs773442324 0.00001
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=) rs773387480 0.00001
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00001
NM_152564.5(VPS13B):c.8973T>A (p.Ile2991=) rs1022439402 0.00001
NM_152564.5(VPS13B):c.8994+17A>G rs749842844 0.00001
NM_152564.5(VPS13B):c.9006A>G (p.Gln3002=) rs952274759 0.00001
NM_152564.5(VPS13B):c.9061C>T (p.Leu3021=) rs1158378699 0.00001
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=) rs1223370834 0.00001
NM_152564.5(VPS13B):c.9183+7T>A rs1217059382 0.00001
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=) rs984224710 0.00001
NM_152564.5(VPS13B):c.9237G>A (p.Gln3079=) rs1165828712 0.00001
NM_152564.5(VPS13B):c.927A>C (p.Gly309=) rs1252576777 0.00001
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=) rs780381150 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.937+8A>G rs1266327291 0.00001
NM_152564.5(VPS13B):c.938-7T>A rs200067547 0.00001
NM_152564.5(VPS13B):c.938-7T>C rs200067547 0.00001
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=) rs1383239374 0.00001
NM_152564.5(VPS13B):c.9456A>G (p.Ala3152=) rs1815134452 0.00001
NM_152564.5(VPS13B):c.9468G>A (p.Gln3156=) rs1423791832 0.00001
NM_152564.5(VPS13B):c.9481C>T (p.Leu3161=) rs201494563 0.00001
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=) rs750174157 0.00001
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=) rs1434707847 0.00001
NM_152564.5(VPS13B):c.9582C>T (p.Leu3194=) rs757859930 0.00001
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=) rs1334078728 0.00001
NM_152564.5(VPS13B):c.9597A>G (p.Glu3199=) rs758186677 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_152564.5(VPS13B):c.9615-9C>T rs1318548049 0.00001
NM_152564.5(VPS13B):c.969A>G (p.Gln323=) rs1443301786 0.00001
NM_152564.5(VPS13B):c.9742+12A>G rs763822536 0.00001
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=) rs764864362 0.00001
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=) rs560490673 0.00001
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=) rs369522130 0.00001
NM_152564.5(VPS13B):c.999A>G (p.Leu333=) rs762085583 0.00001
NM_183235.3(RAB27A):c.126G>A (p.Val42=) rs1356387047 0.00001
NM_183235.3(RAB27A):c.148A>C (p.Arg50=) rs767963780 0.00001
NM_183235.3(RAB27A):c.153+10A>G rs774986160 0.00001
NM_183235.3(RAB27A):c.153+12A>T rs770930489 0.00001
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=) rs529088883 0.00001
NM_183235.3(RAB27A):c.165C>T (p.Ala55=) rs765203586 0.00001
NM_183235.3(RAB27A):c.239+15G>C rs760864329 0.00001
NM_183235.3(RAB27A):c.261G>A (p.Ala87=) rs779504249 0.00001
NM_183235.3(RAB27A):c.344-13C>G rs1171254261 0.00001
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.10002T>C (p.Pro3334=)
NM_000081.4(LYST):c.10014C>A (p.Ile3338=)
NM_000081.4(LYST):c.10026G>A (p.Arg3342=)
NM_000081.4(LYST):c.10029G>A (p.Gln3343=)
NM_000081.4(LYST):c.10032T>C (p.Ala3344=)
NM_000081.4(LYST):c.10035A>G (p.Leu3345=)
NM_000081.4(LYST):c.10047C>T (p.Tyr3349=)
NM_000081.4(LYST):c.10056G>A (p.Gln3352=)
NM_000081.4(LYST):c.1005G>C (p.Leu335=)
NM_000081.4(LYST):c.10078T>C (p.Leu3360=)
NM_000081.4(LYST):c.10089G>T (p.Gly3363=)
NM_000081.4(LYST):c.10101G>A (p.Lys3367=)
NM_000081.4(LYST):c.10122G>A (p.Ala3374=)
NM_000081.4(LYST):c.10131T>A (p.Val3377=)
NM_000081.4(LYST):c.10143+14_10143+15del
NM_000081.4(LYST):c.10143+20C>G
NM_000081.4(LYST):c.10143+20C>T
NM_000081.4(LYST):c.10143+7G>A
NM_000081.4(LYST):c.10144-22_10144-19del
NM_000081.4(LYST):c.10144-4G>A
NM_000081.4(LYST):c.10144-5T>C
NM_000081.4(LYST):c.10144-6C>T
NM_000081.4(LYST):c.10146A>C (p.Thr3382=)
NM_000081.4(LYST):c.10146A>G (p.Thr3382=)
NM_000081.4(LYST):c.10170A>G (p.Ala3390=)
NM_000081.4(LYST):c.10197G>A (p.Ala3399=)
NM_000081.4(LYST):c.10197G>T (p.Ala3399=)
NM_000081.4(LYST):c.10203A>G (p.Glu3401=)
NM_000081.4(LYST):c.1020T>C (p.Ser340=)
NM_000081.4(LYST):c.10230T>A (p.Thr3410=)
NM_000081.4(LYST):c.1023T>C (p.Thr341=)
NM_000081.4(LYST):c.10254C>G (p.Ala3418=)
NM_000081.4(LYST):c.10254C>T (p.Ala3418=)
NM_000081.4(LYST):c.10257T>C (p.His3419=)
NM_000081.4(LYST):c.10275C>G (p.Ala3425=)
NM_000081.4(LYST):c.10284T>C (p.Asn3428=)
NM_000081.4(LYST):c.10308T>C (p.Ala3436=)
NM_000081.4(LYST):c.10338G>A (p.Arg3446=)
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10347A>T (p.Arg3449=) rs1572031961
NM_000081.4(LYST):c.10356C>G (p.Val3452=)
NM_000081.4(LYST):c.10362A>G (p.Glu3454=)
NM_000081.4(LYST):c.10375-10_10375-8del
NM_000081.4(LYST):c.10375-13T>G
NM_000081.4(LYST):c.10375-17_10375-9dup
NM_000081.4(LYST):c.10375-20T>C
NM_000081.4(LYST):c.10375-7A>G
NM_000081.4(LYST):c.10375-8C>T
NM_000081.4(LYST):c.10386A>C (p.Ser3462=)
NM_000081.4(LYST):c.10386A>G (p.Ser3462=)
NM_000081.4(LYST):c.10401G>A (p.Leu3467=)
NM_000081.4(LYST):c.10413A>G (p.Glu3471=)
NM_000081.4(LYST):c.10425C>T (p.Ser3475=)
NM_000081.4(LYST):c.10428C>T (p.Pro3476=)
NM_000081.4(LYST):c.10467C>T (p.His3489=)
NM_000081.4(LYST):c.10470A>G (p.Gly3490=)
NM_000081.4(LYST):c.1047T>C (p.Leu349=)
NM_000081.4(LYST):c.10495C>T (p.Leu3499=)
NM_000081.4(LYST):c.10500C>T (p.Pro3500=)
NM_000081.4(LYST):c.10503C>T (p.Thr3501=)
NM_000081.4(LYST):c.10509A>G (p.Ala3503=)
NM_000081.4(LYST):c.10512C>A (p.Ile3504=)
NM_000081.4(LYST):c.10525C>A (p.Arg3509=)
NM_000081.4(LYST):c.1053A>G (p.Lys351=)
NM_000081.4(LYST):c.10542G>C (p.Leu3514=)
NM_000081.4(LYST):c.10548A>G (p.Thr3516=)
NM_000081.4(LYST):c.10560A>G (p.Glu3520=)
NM_000081.4(LYST):c.10564+12T>C
NM_000081.4(LYST):c.10564+13G>T
NM_000081.4(LYST):c.10564+14dup
NM_000081.4(LYST):c.10564+17C>T
NM_000081.4(LYST):c.10564+18G>A
NM_000081.4(LYST):c.10565-18T>C
NM_000081.4(LYST):c.10565-20T>C
NM_000081.4(LYST):c.10565-6C>T
NM_000081.4(LYST):c.10565-9C>T
NM_000081.4(LYST):c.10566T>C (p.Gly3522=)
NM_000081.4(LYST):c.1057T>C (p.Leu353=)
NM_000081.4(LYST):c.10593T>C (p.Ile3531=)
NM_000081.4(LYST):c.105G>A (p.Glu35=)
NM_000081.4(LYST):c.10620A>T (p.Gly3540=)
NM_000081.4(LYST):c.10629T>C (p.Asp3543=)
NM_000081.4(LYST):c.10656A>G (p.Gln3552=)
NM_000081.4(LYST):c.1065A>G (p.Glu355=)
NM_000081.4(LYST):c.10668A>G (p.Pro3556=)
NM_000081.4(LYST):c.10677T>C (p.Phe3559=)
NM_000081.4(LYST):c.10686T>C (p.Ser3562=)
NM_000081.4(LYST):c.10692A>G (p.Gln3564=)
NM_000081.4(LYST):c.10701+11T>G
NM_000081.4(LYST):c.10701+15T>G
NM_000081.4(LYST):c.10701+18T>G
NM_000081.4(LYST):c.10701+20T>C
NM_000081.4(LYST):c.10701+8C>T
NM_000081.4(LYST):c.10702-17T>C
NM_000081.4(LYST):c.10702-18_10702-15del
NM_000081.4(LYST):c.10702-19G>A
NM_000081.4(LYST):c.10702-19G>C
NM_000081.4(LYST):c.10702-19G>T
NM_000081.4(LYST):c.1071T>C (p.Leu357=)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10743T>C (p.Phe3581=)
NM_000081.4(LYST):c.10749A>G (p.Gly3583=)
NM_000081.4(LYST):c.10800+11G>A
NM_000081.4(LYST):c.10800+12G>A
NM_000081.4(LYST):c.10800+14T>A
NM_000081.4(LYST):c.10801-10A>T
NM_000081.4(LYST):c.10801-19C>A
NM_000081.4(LYST):c.10801-20A>T
NM_000081.4(LYST):c.10801-7A>C
NM_000081.4(LYST):c.10839T>C (p.Tyr3613=)
NM_000081.4(LYST):c.10848A>G (p.Thr3616=)
NM_000081.4(LYST):c.10863C>T (p.Ser3621=)
NM_000081.4(LYST):c.10869T>C (p.Phe3623=)
NM_000081.4(LYST):c.10881A>G (p.Pro3627=)
NM_000081.4(LYST):c.10893G>C (p.Leu3631=)
NM_000081.4(LYST):c.10911C>T (p.Asp3637=)
NM_000081.4(LYST):c.10940+10_10940+12del rs1659473887
NM_000081.4(LYST):c.10941-14C>G
NM_000081.4(LYST):c.10941-18A>G
NM_000081.4(LYST):c.10941-18A>T
NM_000081.4(LYST):c.10941-19C>A
NM_000081.4(LYST):c.10950T>C (p.Tyr3650=)
NM_000081.4(LYST):c.10953A>G (p.Val3651=)
NM_000081.4(LYST):c.10962G>A (p.Leu3654=)
NM_000081.4(LYST):c.10965G>A (p.Ala3655=) rs762254542
NM_000081.4(LYST):c.10986A>C (p.Thr3662=)
NM_000081.4(LYST):c.10989T>C (p.Ala3663=)
NM_000081.4(LYST):c.11013T>G (p.Gly3671=)
NM_000081.4(LYST):c.1101A>G (p.Leu367=)
NM_000081.4(LYST):c.11022T>G (p.Ala3674=)
NM_000081.4(LYST):c.11038+10C>T
NM_000081.4(LYST):c.11038+11T>C
NM_000081.4(LYST):c.11038+13C>G
NM_000081.4(LYST):c.11038+13C>T
NM_000081.4(LYST):c.11038+17C>T
NM_000081.4(LYST):c.11038+18C>A
NM_000081.4(LYST):c.11039-11G>C
NM_000081.4(LYST):c.11039-14T>C
NM_000081.4(LYST):c.11039-15A>G
NM_000081.4(LYST):c.11043C>T (p.Gly3681=)
NM_000081.4(LYST):c.11070G>A (p.Thr3690=)
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11079G>T (p.Gly3693=)
NM_000081.4(LYST):c.1107G>A (p.Lys369=)
NM_000081.4(LYST):c.1110G>A (p.Gln370=)
NM_000081.4(LYST):c.11121C>T (p.Ser3707=)
NM_000081.4(LYST):c.11151A>G (p.Val3717=)
NM_000081.4(LYST):c.11166C>T (p.Ile3722=)
NM_000081.4(LYST):c.11187A>C (p.Gly3729=)
NM_000081.4(LYST):c.11190T>C (p.Ile3730=)
NM_000081.4(LYST):c.11195+10_11195+16del
NM_000081.4(LYST):c.11195+11T>C
NM_000081.4(LYST):c.11195+14G>T
NM_000081.4(LYST):c.11195+15G>T
NM_000081.4(LYST):c.11196-10T>C
NM_000081.4(LYST):c.11196-17A>G
NM_000081.4(LYST):c.11196-17del
NM_000081.4(LYST):c.11196-18G>T
NM_000081.4(LYST):c.11196-20A>G
NM_000081.4(LYST):c.11196-9C>G
NM_000081.4(LYST):c.11220G>A (p.Lys3740=)
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.1122T>C (p.Phe374=)
NM_000081.4(LYST):c.11244C>A (p.Pro3748=)
NM_000081.4(LYST):c.11244C>T (p.Pro3748=)
NM_000081.4(LYST):c.1125A>G (p.Ala375=)
NM_000081.4(LYST):c.11265C>T (p.Ile3755=)
NM_000081.4(LYST):c.11267+10T>C
NM_000081.4(LYST):c.11267+12T>G
NM_000081.4(LYST):c.11267+13C>T
NM_000081.4(LYST):c.11267+17C>A
NM_000081.4(LYST):c.11267+17C>G
NM_000081.4(LYST):c.11267+17C>T
NM_000081.4(LYST):c.11267+18del
NM_000081.4(LYST):c.11267+20T>G
NM_000081.4(LYST):c.11268-11T>A
NM_000081.4(LYST):c.11268-13T>C
NM_000081.4(LYST):c.11268-15T>C
NM_000081.4(LYST):c.11268-17T>A
NM_000081.4(LYST):c.11268-17T>C
NM_000081.4(LYST):c.11268-18A>T
NM_000081.4(LYST):c.11268-18del
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.11268-9T>C
NM_000081.4(LYST):c.11274A>T (p.Thr3758=)
NM_000081.4(LYST):c.11289C>G (p.Gly3763=)
NM_000081.4(LYST):c.11289C>T (p.Gly3763=)
NM_000081.4(LYST):c.1129A>C (p.Arg377=)
NM_000081.4(LYST):c.11301C>T (p.Tyr3767=)
NM_000081.4(LYST):c.11310C>T (p.Asn3770=)
NM_000081.4(LYST):c.11322C>T (p.Thr3774=)
NM_000081.4(LYST):c.11325G>A (p.Val3775=)
NM_000081.4(LYST):c.11346C>T (p.Asp3782=)
NM_000081.4(LYST):c.11349G>A (p.Gln3783=)
NM_000081.4(LYST):c.1134A>G (p.Gln378=)
NM_000081.4(LYST):c.11355C>G (p.Arg3785=)
NM_000081.4(LYST):c.11358G>A (p.Leu3786=)
NM_000081.4(LYST):c.11391C>T (p.Ser3797=)
NM_000081.4(LYST):c.11400C>T (p.Ala3800=)
NM_000081.4(LYST):c.11403G>A (p.Gly3801=)
NM_000081.4(LYST):c.1143A>T (p.Thr381=)
NM_000081.4(LYST):c.1146G>A (p.Leu382=)
NM_000081.4(LYST):c.1149G>A (p.Gln383=)
NM_000081.4(LYST):c.1167T>C (p.Phe389=)
NM_000081.4(LYST):c.1179G>A (p.Lys393=)
NM_000081.4(LYST):c.1206T>C (p.Pro402=)
NM_000081.4(LYST):c.1206T>G (p.Pro402=)
NM_000081.4(LYST):c.1236G>A (p.Leu412=)
NM_000081.4(LYST):c.1263A>G (p.Ser421=)
NM_000081.4(LYST):c.126T>C (p.Leu42=)
NM_000081.4(LYST):c.1296G>A (p.Leu432=)
NM_000081.4(LYST):c.132G>A (p.Gln44=)
NM_000081.4(LYST):c.1332A>G (p.Leu444=)
NM_000081.4(LYST):c.1377T>C (p.Asp459=)
NM_000081.4(LYST):c.1386T>C (p.Pro462=)
NM_000081.4(LYST):c.1389C>A (p.Pro463=)
NM_000081.4(LYST):c.1389C>T (p.Pro463=)
NM_000081.4(LYST):c.1392G>A (p.Glu464=)
NM_000081.4(LYST):c.1413C>T (p.Ala471=)
NM_000081.4(LYST):c.141C>T (p.Val47=)
NM_000081.4(LYST):c.1422T>C (p.Asn474=)
NM_000081.4(LYST):c.1425T>C (p.Ser475=)
NM_000081.4(LYST):c.1428G>A (p.Val476=)
NM_000081.4(LYST):c.1446T>C (p.Thr482=)
NM_000081.4(LYST):c.144T>C (p.His48=)
NM_000081.4(LYST):c.1467G>A (p.Glu489=)
NM_000081.4(LYST):c.1470A>G (p.Gln490=)
NM_000081.4(LYST):c.147T>C (p.Gly49=)
NM_000081.4(LYST):c.1482G>A (p.Ser494=)
NM_000081.4(LYST):c.1482G>T (p.Ser494=)
NM_000081.4(LYST):c.1488T>C (p.Cys496=)
NM_000081.4(LYST):c.150A>G (p.Arg50=)
NM_000081.4(LYST):c.1563T>C (p.Val521=)
NM_000081.4(LYST):c.1566G>A (p.Ser522=)
NM_000081.4(LYST):c.157C>T (p.Leu53=)
NM_000081.4(LYST):c.1596A>G (p.Pro532=)
NM_000081.4(LYST):c.1602A>G (p.Glu534=)
NM_000081.4(LYST):c.1614T>C (p.Asp538=)
NM_000081.4(LYST):c.1647C>T (p.Cys549=)
NM_000081.4(LYST):c.1662C>A (p.Ala554=)
NM_000081.4(LYST):c.1662C>G (p.Ala554=)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1680A>G (p.Leu560=)
NM_000081.4(LYST):c.168C>A (p.Thr56=)
NM_000081.4(LYST):c.1704C>T (p.Ser568=)
NM_000081.4(LYST):c.171G>A (p.Lys57=)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.1737C>T (p.Asn579=)
NM_000081.4(LYST):c.1776C>T (p.Ile592=)
NM_000081.4(LYST):c.1779T>C (p.Ile593=)
NM_000081.4(LYST):c.1788C>G (p.Leu596=)
NM_000081.4(LYST):c.1797T>C (p.Phe599=)
NM_000081.4(LYST):c.1803G>A (p.Leu601=)
NM_000081.4(LYST):c.1806A>G (p.Pro602=)
NM_000081.4(LYST):c.1809A>G (p.Ala603=)
NM_000081.4(LYST):c.1836G>A (p.Leu612=)
NM_000081.4(LYST):c.1842C>T (p.Ile614=)
NM_000081.4(LYST):c.1875A>G (p.Gly625=)
NM_000081.4(LYST):c.1908T>C (p.Ala636=)
NM_000081.4(LYST):c.192+10T>G
NM_000081.4(LYST):c.192+11T>C
NM_000081.4(LYST):c.192+13T>C
NM_000081.4(LYST):c.192+7T>C
NM_000081.4(LYST):c.192+8T>G
NM_000081.4(LYST):c.193-18C>G
NM_000081.4(LYST):c.193-7G>A
NM_000081.4(LYST):c.1959A>G (p.Thr653=)
NM_000081.4(LYST):c.1971C>T (p.Asn657=) rs1346763642
NM_000081.4(LYST):c.1986A>G (p.Glu662=)
NM_000081.4(LYST):c.1995A>G (p.Ser665=)
NM_000081.4(LYST):c.2013T>C (p.Ser671=)
NM_000081.4(LYST):c.2025A>G (p.Gln675=)
NM_000081.4(LYST):c.2040C>T (p.Ser680=) rs1572335678
NM_000081.4(LYST):c.2059T>C (p.Leu687=)
NM_000081.4(LYST):c.2073T>C (p.Asp691=)
NM_000081.4(LYST):c.2082G>A (p.Lys694=)
NM_000081.4(LYST):c.2094C>T (p.Asn698=)
NM_000081.4(LYST):c.2097T>C (p.Phe699=)
NM_000081.4(LYST):c.2103T>C (p.Phe701=)
NM_000081.4(LYST):c.2106A>G (p.Glu702=)
NM_000081.4(LYST):c.2109A>G (p.Glu703=)
NM_000081.4(LYST):c.210A>G (p.Glu70=)
NM_000081.4(LYST):c.2118A>G (p.Leu706=)
NM_000081.4(LYST):c.2124T>C (p.Ser708=)
NM_000081.4(LYST):c.2130G>A (p.Gln710=)
NM_000081.4(LYST):c.2145T>C (p.Ile715=)
NM_000081.4(LYST):c.2148C>T (p.Cys716=)
NM_000081.4(LYST):c.2157C>T (p.Ile719=)
NM_000081.4(LYST):c.2217C>T (p.Leu739=)
NM_000081.4(LYST):c.2235A>G (p.Leu745=)
NM_000081.4(LYST):c.2244T>C (p.His748=)
NM_000081.4(LYST):c.2250A>G (p.Gln750=)
NM_000081.4(LYST):c.2259C>T (p.Ser753=)
NM_000081.4(LYST):c.2274A>G (p.Gln758=)
NM_000081.4(LYST):c.2289C>T (p.Ser763=)
NM_000081.4(LYST):c.2295T>C (p.His765=)
NM_000081.4(LYST):c.2305T>C (p.Leu769=)
NM_000081.4(LYST):c.2307G>A (p.Leu769=)
NM_000081.4(LYST):c.2310T>C (p.Pro770=)
NM_000081.4(LYST):c.2319G>C (p.Val773=)
NM_000081.4(LYST):c.231G>A (p.Leu77=)
NM_000081.4(LYST):c.2343G>A (p.Leu781=)
NM_000081.4(LYST):c.2363+11G>A
NM_000081.4(LYST):c.2363+12dup
NM_000081.4(LYST):c.2363+13G>A
NM_000081.4(LYST):c.2363+16G>T
NM_000081.4(LYST):c.2363+17G>C
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.2364-12T>C
NM_000081.4(LYST):c.2364-15T>G
NM_000081.4(LYST):c.2364-17C>A
NM_000081.4(LYST):c.2364-17C>T
NM_000081.4(LYST):c.2364-20A>G
NM_000081.4(LYST):c.2364-5C>T
NM_000081.4(LYST):c.2364-6T>C
NM_000081.4(LYST):c.2382T>C (p.Phe794=) rs1572329047
NM_000081.4(LYST):c.2383T>C (p.Leu795=)
NM_000081.4(LYST):c.2391T>C (p.Cys797=)
NM_000081.4(LYST):c.2409A>C (p.Ile803=)
NM_000081.4(LYST):c.2412C>A (p.Ile804=)
NM_000081.4(LYST):c.2412C>T (p.Ile804=) rs1031547596
NM_000081.4(LYST):c.2416T>C (p.Leu806=)
NM_000081.4(LYST):c.2433T>G (p.Gly811=)
NM_000081.4(LYST):c.2439A>C (p.Arg813=)
NM_000081.4(LYST):c.2442T>C (p.Ser814=)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.2457A>C (p.Ala819=)
NM_000081.4(LYST):c.2463A>G (p.Glu821=)
NM_000081.4(LYST):c.2466T>G (p.Thr822=)
NM_000081.4(LYST):c.2469G>A (p.Leu823=) rs1572328673
NM_000081.4(LYST):c.2478C>T (p.Ser826=)
NM_000081.4(LYST):c.2484G>A (p.Gly828=)
NM_000081.4(LYST):c.2496A>G (p.Lys832=)
NM_000081.4(LYST):c.249A>G (p.Val83=)
NM_000081.4(LYST):c.24G>A (p.Leu8=)
NM_000081.4(LYST):c.2502C>T (p.Ala834=)
NM_000081.4(LYST):c.2505A>G (p.Ser835=)
NM_000081.4(LYST):c.2523G>A (p.Gly841=)
NM_000081.4(LYST):c.2523G>C (p.Gly841=)
NM_000081.4(LYST):c.2529C>T (p.Asp843=)
NM_000081.4(LYST):c.2556A>T (p.Val852=)
NM_000081.4(LYST):c.2559T>C (p.His853=)
NM_000081.4(LYST):c.2565T>A (p.Gly855=)
NM_000081.4(LYST):c.2568T>G (p.Thr856=)
NM_000081.4(LYST):c.2583G>A (p.Gln861=)
NM_000081.4(LYST):c.2637A>G (p.Lys879=)
NM_000081.4(LYST):c.2646T>C (p.Tyr882=)
NM_000081.4(LYST):c.2703C>T (p.Phe901=)
NM_000081.4(LYST):c.2712G>T (p.Val904=)
NM_000081.4(LYST):c.2718T>C (p.Phe906=)
NM_000081.4(LYST):c.2736A>G (p.Glu912=)
NM_000081.4(LYST):c.2745T>C (p.Ser915=)
NM_000081.4(LYST):c.2760C>T (p.Ala920=)
NM_000081.4(LYST):c.2769A>T (p.Ser923=)
NM_000081.4(LYST):c.27A>G (p.Ala9=)
NM_000081.4(LYST):c.2802C>T (p.Ser934=)
NM_000081.4(LYST):c.2821C>T (p.Leu941=)
NM_000081.4(LYST):c.2829T>C (p.Cys943=)
NM_000081.4(LYST):c.283+11T>C
NM_000081.4(LYST):c.283+12C>T
NM_000081.4(LYST):c.283+14del
NM_000081.4(LYST):c.283+16T>A
NM_000081.4(LYST):c.283+16T>G
NM_000081.4(LYST):c.283+17T>C
NM_000081.4(LYST):c.283+18A>G
NM_000081.4(LYST):c.283+20C>T
NM_000081.4(LYST):c.283+8T>C
NM_000081.4(LYST):c.2838C>T (p.Leu946=)
NM_000081.4(LYST):c.284-10A>G
NM_000081.4(LYST):c.284-13T>C
NM_000081.4(LYST):c.284-14T>C
NM_000081.4(LYST):c.284-5A>G
NM_000081.4(LYST):c.284-6C>A
NM_000081.4(LYST):c.284-9T>C
NM_000081.4(LYST):c.2841G>A (p.Glu947=)
NM_000081.4(LYST):c.2844C>T (p.Ser948=)
NM_000081.4(LYST):c.2850C>T (p.Val950=)
NM_000081.4(LYST):c.2851T>C (p.Leu951=) rs773810421
NM_000081.4(LYST):c.2856T>G (p.Pro952=)
NM_000081.4(LYST):c.285T>C (p.Asp95=)
NM_000081.4(LYST):c.2868T>C (p.His956=)
NM_000081.4(LYST):c.2886C>T (p.Asp962=)
NM_000081.4(LYST):c.2895T>A (p.Ser965=)
NM_000081.4(LYST):c.2901T>C (p.Cys967=)
NM_000081.4(LYST):c.2904T>C (p.Arg968=)
NM_000081.4(LYST):c.2919G>A (p.Leu973=)
NM_000081.4(LYST):c.292C>T (p.Leu98=)
NM_000081.4(LYST):c.2940G>A (p.Gln980=)
NM_000081.4(LYST):c.2952T>C (p.Leu984=)
NM_000081.4(LYST):c.2962C>A (p.Arg988=)
NM_000081.4(LYST):c.2967A>T (p.Val989=)
NM_000081.4(LYST):c.2976G>A (p.Lys992=)
NM_000081.4(LYST):c.297G>A (p.Pro99=)
NM_000081.4(LYST):c.297G>C (p.Pro99=)
NM_000081.4(LYST):c.3001C>T (p.Leu1001=)
NM_000081.4(LYST):c.3003G>C (p.Leu1001=) rs1572326456
NM_000081.4(LYST):c.3024G>A (p.Glu1008=)
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.3059A>G (p.Glu1020Gly)
NM_000081.4(LYST):c.3062A>G (p.Asn1021Ser)
NM_000081.4(LYST):c.3066G>A (p.Gln1022=)
NM_000081.4(LYST):c.3087A>G (p.Gln1029=)
NM_000081.4(LYST):c.3090T>C (p.Pro1030=)
NM_000081.4(LYST):c.3093G>A (p.Lys1031=)
NM_000081.4(LYST):c.3099T>G (p.Thr1033=)
NM_000081.4(LYST):c.3153A>G (p.Glu1051=)
NM_000081.4(LYST):c.3156A>G (p.Leu1052=)
NM_000081.4(LYST):c.3159T>G (p.Gly1053=)
NM_000081.4(LYST):c.318G>A (p.Leu106=)
NM_000081.4(LYST):c.318G>C (p.Leu106=)
NM_000081.4(LYST):c.3234T>G (p.Val1078=)
NM_000081.4(LYST):c.3249C>T (p.Ala1083=)
NM_000081.4(LYST):c.324A>G (p.Lys108=)
NM_000081.4(LYST):c.3255C>T (p.Pro1085=)
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
NM_000081.4(LYST):c.3261A>G (p.Glu1087=)
NM_000081.4(LYST):c.3267G>A (p.Lys1089=)
NM_000081.4(LYST):c.3282A>G (p.Gln1094=)
NM_000081.4(LYST):c.3294C>T (p.Thr1098=)
NM_000081.4(LYST):c.3306T>C (p.Ser1102=)
NM_000081.4(LYST):c.3315T>A (p.Leu1105=)
NM_000081.4(LYST):c.3324C>T (p.Ala1108=)
NM_000081.4(LYST):c.3333C>T (p.Ala1111=)
NM_000081.4(LYST):c.333C>T (p.Asn111=)
NM_000081.4(LYST):c.3352A>C (p.Arg1118=)
NM_000081.4(LYST):c.3378G>A (p.Leu1126=)
NM_000081.4(LYST):c.3381G>A (p.Glu1127=)
NM_000081.4(LYST):c.3387T>G (p.Pro1129=)
NM_000081.4(LYST):c.3393+11G>C
NM_000081.4(LYST):c.3393+19T>C
NM_000081.4(LYST):c.3394-11T>C
NM_000081.4(LYST):c.3394-12A>G
NM_000081.4(LYST):c.3394-14_3394-13del
NM_000081.4(LYST):c.3394-17C>T
NM_000081.4(LYST):c.3394-19C>T
NM_000081.4(LYST):c.3394-4T>G
NM_000081.4(LYST):c.3394-5C>T
NM_000081.4(LYST):c.3394-6C>T
NM_000081.4(LYST):c.3394-8T>G
NM_000081.4(LYST):c.3397T>C (p.Leu1133=)
NM_000081.4(LYST):c.3408A>G (p.Glu1136=)
NM_000081.4(LYST):c.3429G>A (p.Arg1143=)
NM_000081.4(LYST):c.3453G>A (p.Val1151=)
NM_000081.4(LYST):c.3453G>T (p.Val1151=)
NM_000081.4(LYST):c.345A>G (p.Gln115=)
NM_000081.4(LYST):c.3480A>G (p.Leu1160=)
NM_000081.4(LYST):c.3483T>C (p.Phe1161=)
NM_000081.4(LYST):c.348A>G (p.Arg116=)
NM_000081.4(LYST):c.3498A>G (p.Arg1166=)
NM_000081.4(LYST):c.3501T>G (p.Val1167=)
NM_000081.4(LYST):c.3516T>C (p.Tyr1172=)
NM_000081.4(LYST):c.3549T>G (p.Thr1183=)
NM_000081.4(LYST):c.3555+10A>G
NM_000081.4(LYST):c.3555+12A>T
NM_000081.4(LYST):c.3555+17A>G
NM_000081.4(LYST):c.3555+18T>C
NM_000081.4(LYST):c.3555+19A>G
NM_000081.4(LYST):c.3556-13C>T
NM_000081.4(LYST):c.3556-4A>C
NM_000081.4(LYST):c.3556-4A>G
NM_000081.4(LYST):c.3556-6T>C
NM_000081.4(LYST):c.3564A>G (p.Gln1188=)
NM_000081.4(LYST):c.3577T>C (p.Leu1193=)
NM_000081.4(LYST):c.3579G>A (p.Leu1193=)
NM_000081.4(LYST):c.3588G>A (p.Gln1196=)
NM_000081.4(LYST):c.3591T>G (p.Pro1197=)
NM_000081.4(LYST):c.360A>G (p.Glu120=)
NM_000081.4(LYST):c.3624G>A (p.Gln1208=)
NM_000081.4(LYST):c.3630T>C (p.Cys1210=)
NM_000081.4(LYST):c.3643T>C (p.Leu1215=)
NM_000081.4(LYST):c.3651A>G (p.Glu1217=)
NM_000081.4(LYST):c.3663C>T (p.Tyr1221=)
NM_000081.4(LYST):c.3675T>C (p.Ser1225=)
NM_000081.4(LYST):c.3696C>T (p.Gly1232=)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.3712+13T>G
NM_000081.4(LYST):c.3712+14G>A
NM_000081.4(LYST):c.3712+19G>A
NM_000081.4(LYST):c.3712+9T>C
NM_000081.4(LYST):c.3713-11T>C
NM_000081.4(LYST):c.3713-12T>C
NM_000081.4(LYST):c.3713-16G>A
NM_000081.4(LYST):c.3713-17C>T
NM_000081.4(LYST):c.3713-4T>G
NM_000081.4(LYST):c.3713-8C>G
NM_000081.4(LYST):c.3714G>A (p.Gly1238=)
NM_000081.4(LYST):c.3729T>C (p.Ser1243=)
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3762A>C (p.Pro1254=)
NM_000081.4(LYST):c.3762A>G (p.Pro1254=)
NM_000081.4(LYST):c.3765T>C (p.Asn1255=)
NM_000081.4(LYST):c.3774C>T (p.Leu1258=)
NM_000081.4(LYST):c.3780C>T (p.Asn1260=)
NM_000081.4(LYST):c.3783C>A (p.Leu1261=)
NM_000081.4(LYST):c.37C>T (p.Leu13=)
NM_000081.4(LYST):c.3801T>A (p.Ile1267=)
NM_000081.4(LYST):c.3813T>A (p.Ile1271=)
NM_000081.4(LYST):c.3813T>C (p.Ile1271=)
NM_000081.4(LYST):c.3831T>C (p.Asn1277=)
NM_000081.4(LYST):c.3837T>C (p.Leu1279=)
NM_000081.4(LYST):c.3852C>A (p.Ala1284=)
NM_000081.4(LYST):c.3909A>G (p.Lys1303=)
NM_000081.4(LYST):c.3912A>G (p.Glu1304=)
NM_000081.4(LYST):c.3924T>C (p.Phe1308=)
NM_000081.4(LYST):c.3939+11C>T
NM_000081.4(LYST):c.3939+12A>G
NM_000081.4(LYST):c.3939+17G>A
NM_000081.4(LYST):c.3939+7A>C
NM_000081.4(LYST):c.3939+8A>T
NM_000081.4(LYST):c.3939+9T>A
NM_000081.4(LYST):c.3940-12T>G
NM_000081.4(LYST):c.3940-16T>A
NM_000081.4(LYST):c.3940-18A>G
NM_000081.4(LYST):c.3940-9A>G
NM_000081.4(LYST):c.3945T>G (p.Thr1315=)
NM_000081.4(LYST):c.3958T>C (p.Leu1320=)
NM_000081.4(LYST):c.3960A>G (p.Leu1320=)
NM_000081.4(LYST):c.3966G>C (p.Gly1322=)
NM_000081.4(LYST):c.3966G>T (p.Gly1322=)
NM_000081.4(LYST):c.3996T>G (p.Ser1332=)
NM_000081.4(LYST):c.39G>A (p.Leu13=)
NM_000081.4(LYST):c.4002T>C (p.Phe1334=)
NM_000081.4(LYST):c.4006+12C>G
NM_000081.4(LYST):c.4006+13T>C
NM_000081.4(LYST):c.4006+14G>A
NM_000081.4(LYST):c.4006+14_4006+15del
NM_000081.4(LYST):c.4006+15T>G
NM_000081.4(LYST):c.4006+16T>C
NM_000081.4(LYST):c.4006+17T>C
NM_000081.4(LYST):c.4006+9A>G
NM_000081.4(LYST):c.4007-12T>G
NM_000081.4(LYST):c.4007-12dup
NM_000081.4(LYST):c.4007-13_4007-12del
NM_000081.4(LYST):c.4007-17C>T
NM_000081.4(LYST):c.4008A>G (p.Ala1336=)
NM_000081.4(LYST):c.4020A>G (p.Val1340=)
NM_000081.4(LYST):c.4032T>G (p.Leu1344=)
NM_000081.4(LYST):c.4033T>C (p.Leu1345=)
NM_000081.4(LYST):c.4044G>A (p.Leu1348=)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4056A>G (p.Arg1352=)
NM_000081.4(LYST):c.4059A>G (p.Thr1353=)
NM_000081.4(LYST):c.4072C>T (p.Leu1358=)
NM_000081.4(LYST):c.4077C>T (p.Thr1359=)
NM_000081.4(LYST):c.4095T>C (p.Phe1365=)
NM_000081.4(LYST):c.4101G>A (p.Glu1367=)
NM_000081.4(LYST):c.4110T>G (p.Pro1370=)
NM_000081.4(LYST):c.4116+12A>G
NM_000081.4(LYST):c.4116+15A>G
NM_000081.4(LYST):c.4116+17T>G
NM_000081.4(LYST):c.4117-12C>T
NM_000081.4(LYST):c.4117-17T>C
NM_000081.4(LYST):c.4117-18G>C
NM_000081.4(LYST):c.4117-18_4117-15del
NM_000081.4(LYST):c.4129C>T (p.Leu1377=)
NM_000081.4(LYST):c.4131G>T (p.Leu1377=)
NM_000081.4(LYST):c.4161T>C (p.Thr1387=)
NM_000081.4(LYST):c.4170C>T (p.Ser1390=)
NM_000081.4(LYST):c.4185A>G (p.Leu1395=)
NM_000081.4(LYST):c.4188C>T (p.Thr1396=)
NM_000081.4(LYST):c.4200G>A (p.Leu1400=)
NM_000081.4(LYST):c.4203C>T (p.His1401=)
NM_000081.4(LYST):c.420T>C (p.Phe140=)
NM_000081.4(LYST):c.4221C>T (p.Asn1407=)
NM_000081.4(LYST):c.4224T>C (p.Gly1408=)
NM_000081.4(LYST):c.4230A>C (p.Ser1410=)
NM_000081.4(LYST):c.4239G>A (p.Lys1413=)
NM_000081.4(LYST):c.4245T>G (p.Pro1415=)
NM_000081.4(LYST):c.4275A>G (p.Leu1425=)
NM_000081.4(LYST):c.4293T>G (p.Val1431=)
NM_000081.4(LYST):c.4297C>A (p.Arg1433=)
NM_000081.4(LYST):c.42C>T (p.Thr14=)
NM_000081.4(LYST):c.4311G>A (p.Glu1437=)
NM_000081.4(LYST):c.4317T>C (p.Asp1439=)
NM_000081.4(LYST):c.432A>G (p.Arg144=)
NM_000081.4(LYST):c.4338G>A (p.Arg1446=)
NM_000081.4(LYST):c.4347A>G (p.Ser1449=)
NM_000081.4(LYST):c.4371C>T (p.His1457=)
NM_000081.4(LYST):c.4377G>A (p.Pro1459=)
NM_000081.4(LYST):c.4381C>T (p.Leu1461=)
NM_000081.4(LYST):c.4386G>A (p.Gly1462=) rs1572270183
NM_000081.4(LYST):c.438G>A (p.Gln146=)
NM_000081.4(LYST):c.4404C>T (p.His1468=)
NM_000081.4(LYST):c.4416T>C (p.Gly1472=)
NM_000081.4(LYST):c.4428C>G (p.Ser1476=)
NM_000081.4(LYST):c.4429C>T (p.Leu1477=)
NM_000081.4(LYST):c.4440T>C (p.Asn1480=)
NM_000081.4(LYST):c.4446G>A (p.Glu1482=)
NM_000081.4(LYST):c.4449T>C (p.Cys1483=)
NM_000081.4(LYST):c.4543+10C>T
NM_000081.4(LYST):c.4543+13G>C
NM_000081.4(LYST):c.4543+14A>T
NM_000081.4(LYST):c.4543+17A>T
NM_000081.4(LYST):c.4544-10T>C
NM_000081.4(LYST):c.4544-11T>G
NM_000081.4(LYST):c.4544-15A>G
NM_000081.4(LYST):c.4544-18A>G
NM_000081.4(LYST):c.4544-18A>T
NM_000081.4(LYST):c.4544-19T>C
NM_000081.4(LYST):c.4544-5T>C
NM_000081.4(LYST):c.4545G>A (p.Glu1515=)
NM_000081.4(LYST):c.4551C>T (p.Asp1517=)
NM_000081.4(LYST):c.4578T>C (p.Asn1526=)
NM_000081.4(LYST):c.4593C>T (p.Leu1531=)
NM_000081.4(LYST):c.45T>C (p.Asp15=) rs1675833748
NM_000081.4(LYST):c.4620T>C (p.Ile1540=)
NM_000081.4(LYST):c.4638G>A (p.Ala1546=)
NM_000081.4(LYST):c.4639T>C (p.Leu1547=)
NM_000081.4(LYST):c.4647C>T (p.Ile1549=)
NM_000081.4(LYST):c.4665C>T (p.Pro1555=)
NM_000081.4(LYST):c.4677T>C (p.Thr1559=)
NM_000081.4(LYST):c.4688+10A>G
NM_000081.4(LYST):c.4688+12C>T
NM_000081.4(LYST):c.4688+14T>C
NM_000081.4(LYST):c.4688+15C>G
NM_000081.4(LYST):c.4688+15C>T
NM_000081.4(LYST):c.4689-12C>T
NM_000081.4(LYST):c.4689-13T>G
NM_000081.4(LYST):c.4689-17T>C
NM_000081.4(LYST):c.4689-18T>A
NM_000081.4(LYST):c.4689-20C>T
NM_000081.4(LYST):c.4689-4G>A
NM_000081.4(LYST):c.4689-7T>C rs1572256602
NM_000081.4(LYST):c.4692G>C (p.Val1564=)
NM_000081.4(LYST):c.4710T>C (p.Asp1570=)
NM_000081.4(LYST):c.4713C>T (p.Asp1571=)
NM_000081.4(LYST):c.4719A>G (p.Lys1573=)
NM_000081.4(LYST):c.471T>C (p.Asp157=)
NM_000081.4(LYST):c.4728A>G (p.Leu1576=)
NM_000081.4(LYST):c.4729C>T (p.Leu1577=)
NM_000081.4(LYST):c.4734A>G (p.Ala1578=)
NM_000081.4(LYST):c.474A>G (p.Ala158=)
NM_000081.4(LYST):c.4755T>C (p.Asn1585=)
NM_000081.4(LYST):c.4773A>G (p.Lys1591=)
NM_000081.4(LYST):c.4779A>G (p.Gln1593=)
NM_000081.4(LYST):c.4791C>T (p.Leu1597=)
NM_000081.4(LYST):c.4812A>G (p.Gln1604=)
NM_000081.4(LYST):c.4815G>A (p.Gly1605=)
NM_000081.4(LYST):c.4833G>A (p.Gly1611=)
NM_000081.4(LYST):c.4836A>G (p.Lys1612=)
NM_000081.4(LYST):c.4839C>T (p.Ile1613=)
NM_000081.4(LYST):c.483A>G (p.Thr161=)
NM_000081.4(LYST):c.4851C>T (p.Val1617=)
NM_000081.4(LYST):c.4862+12T>C
NM_000081.4(LYST):c.4863-13G>C
NM_000081.4(LYST):c.4872T>C (p.Asp1624=)
NM_000081.4(LYST):c.4893T>C (p.Leu1631=)
NM_000081.4(LYST):c.4896A>G (p.Pro1632=)
NM_000081.4(LYST):c.48C>T (p.Val16=)
NM_000081.4(LYST):c.4905A>G (p.Thr1635=)
NM_000081.4(LYST):c.4929A>G (p.Lys1643=) rs750662250
NM_000081.4(LYST):c.4932A>G (p.Thr1644=)
NM_000081.4(LYST):c.4938C>T (p.Cys1646=)
NM_000081.4(LYST):c.4986T>C (p.Ala1662=)
NM_000081.4(LYST):c.4992A>G (p.Lys1664=)
NM_000081.4(LYST):c.4999C>T (p.Leu1667=)
NM_000081.4(LYST):c.5013T>C (p.Leu1671=)
NM_000081.4(LYST):c.5016C>T (p.Leu1672=)
NM_000081.4(LYST):c.5023+12A>G
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5023+15A>G
NM_000081.4(LYST):c.5024-16T>C
NM_000081.4(LYST):c.5024-6A>G
NM_000081.4(LYST):c.5024-8C>T
NM_000081.4(LYST):c.5024-9G>A
NM_000081.4(LYST):c.5025A>G (p.Gly1675=)
NM_000081.4(LYST):c.5031G>A (p.Lys1677=)
NM_000081.4(LYST):c.5052T>C (p.Phe1684=)
NM_000081.4(LYST):c.5058G>A (p.Leu1686=) rs780562886
NM_000081.4(LYST):c.5082A>T (p.Thr1694=)
NM_000081.4(LYST):c.5100G>A (p.Lys1700=)
NM_000081.4(LYST):c.5112A>G (p.Pro1704=)
NM_000081.4(LYST):c.5112A>T (p.Pro1704=)
NM_000081.4(LYST):c.5115C>G (p.Val1705=)
NM_000081.4(LYST):c.5115C>T (p.Val1705=)
NM_000081.4(LYST):c.5124C>T (p.Tyr1708=)
NM_000081.4(LYST):c.5136T>C (p.Ile1712=)
NM_000081.4(LYST):c.5151G>A (p.Leu1717=)
NM_000081.4(LYST):c.5157T>C (p.Cys1719=)
NM_000081.4(LYST):c.5190A>G (p.Lys1730=)
NM_000081.4(LYST):c.5193T>C (p.Asp1731=)
NM_000081.4(LYST):c.5199T>C (p.Asp1733=)
NM_000081.4(LYST):c.519T>C (p.Asp173=)
NM_000081.4(LYST):c.5209T>C (p.Leu1737=)
NM_000081.4(LYST):c.5214+11A>G
NM_000081.4(LYST):c.5214+12T>C
NM_000081.4(LYST):c.5214+15T>G
NM_000081.4(LYST):c.5214+9T>C
NM_000081.4(LYST):c.5215-11T>C
NM_000081.4(LYST):c.5215-12T>C
NM_000081.4(LYST):c.5215-14T>C
NM_000081.4(LYST):c.5215-7A>G
NM_000081.4(LYST):c.5215-9G>C
NM_000081.4(LYST):c.5226A>G (p.Ser1742=)
NM_000081.4(LYST):c.5229T>C (p.Val1743=)
NM_000081.4(LYST):c.5235T>C (p.Tyr1745=)
NM_000081.4(LYST):c.5247T>C (p.Cys1749=)
NM_000081.4(LYST):c.5256G>A (p.Gln1752=)
NM_000081.4(LYST):c.5259T>C (p.Tyr1753=)
NM_000081.4(LYST):c.5265C>T (p.Ile1755=)
NM_000081.4(LYST):c.5271A>G (p.Glu1757=)
NM_000081.4(LYST):c.5274A>G (p.Pro1758=)
NM_000081.4(LYST):c.5277G>A (p.Val1759=)
NM_000081.4(LYST):c.5281A>C (p.Arg1761=)
NM_000081.4(LYST):c.5322C>T (p.Pro1774=)
NM_000081.4(LYST):c.5334A>G (p.Lys1778=)
NM_000081.4(LYST):c.5349C>T (p.Ile1783=)
NM_000081.4(LYST):c.534A>G (p.Ala178=)
NM_000081.4(LYST):c.5352A>G (p.Leu1784=)
NM_000081.4(LYST):c.5353T>C (p.Leu1785=)
NM_000081.4(LYST):c.5368C>T (p.Leu1790=)
NM_000081.4(LYST):c.5370A>G (p.Leu1790=)
NM_000081.4(LYST):c.5382A>G (p.Gln1794=)
NM_000081.4(LYST):c.5448T>C (p.Phe1816=)
NM_000081.4(LYST):c.5451C>T (p.Leu1817=)
NM_000081.4(LYST):c.5460+11C>T
NM_000081.4(LYST):c.5460+7A>G
NM_000081.4(LYST):c.5461-12T>C
NM_000081.4(LYST):c.5461-13T>A
NM_000081.4(LYST):c.5461-14A>G
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5461-15C>A
NM_000081.4(LYST):c.5461-15C>T
NM_000081.4(LYST):c.5461-16C>A
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5461-5T>C
NM_000081.4(LYST):c.5461-9T>A
NM_000081.4(LYST):c.5463T>G (p.Val1821=)
NM_000081.4(LYST):c.5472C>G (p.Leu1824=)
NM_000081.4(LYST):c.5472C>T (p.Leu1824=)
NM_000081.4(LYST):c.5475T>C (p.Ser1825=)
NM_000081.4(LYST):c.5496A>G (p.Ala1832=)
NM_000081.4(LYST):c.54G>A (p.Arg18=)
NM_000081.4(LYST):c.5505G>A (p.Leu1835=)
NM_000081.4(LYST):c.5506C>A (p.Arg1836=)
NM_000081.4(LYST):c.5511T>C (p.Val1837=)
NM_000081.4(LYST):c.5520A>G (p.Ser1840=)
NM_000081.4(LYST):c.5544A>G (p.Arg1848=)
NM_000081.4(LYST):c.555C>T (p.Pro185=)
NM_000081.4(LYST):c.5574T>C (p.Leu1858=)
NM_000081.4(LYST):c.5577T>A (p.Ser1859=)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5619G>A (p.Gly1873=)
NM_000081.4(LYST):c.561G>A (p.Leu187=)
NM_000081.4(LYST):c.5625C>T (p.Tyr1875=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.5634+16A>G
NM_000081.4(LYST):c.5634+17T>G
NM_000081.4(LYST):c.5634+18T>G
NM_000081.4(LYST):c.5634+20A>G
NM_000081.4(LYST):c.5634+9T>C
NM_000081.4(LYST):c.5635-13T>C
NM_000081.4(LYST):c.5635-14C>T
NM_000081.4(LYST):c.5635-17A>T
NM_000081.4(LYST):c.5635-18A>G
NM_000081.4(LYST):c.5635-6C>G
NM_000081.4(LYST):c.5661A>G (p.Glu1887=)
NM_000081.4(LYST):c.5664T>C (p.Asp1888=)
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
NM_000081.4(LYST):c.5685T>C (p.Asn1895=)
NM_000081.4(LYST):c.5706A>C (p.Val1902=)
NM_000081.4(LYST):c.5709C>T (p.Asp1903=)
NM_000081.4(LYST):c.5712T>C (p.Ser1904=)
NM_000081.4(LYST):c.5715T>C (p.Asn1905=)
NM_000081.4(LYST):c.5718T>A (p.Ala1906=)
NM_000081.4(LYST):c.5736G>A (p.Lys1912=)
NM_000081.4(LYST):c.5748A>G (p.Glu1916=)
NM_000081.4(LYST):c.5749C>T (p.Leu1917=)
NM_000081.4(LYST):c.5751A>G (p.Leu1917=)
NM_000081.4(LYST):c.5752T>C (p.Leu1918=)
NM_000081.4(LYST):c.5754G>A (p.Leu1918=)
NM_000081.4(LYST):c.5766G>A (p.Lys1922=)
NM_000081.4(LYST):c.5775T>C (p.Ser1925=)
NM_000081.4(LYST):c.5784+11T>C
NM_000081.4(LYST):c.5784+12G>A
NM_000081.4(LYST):c.5784+15C>T
NM_000081.4(LYST):c.5784+16T>C
NM_000081.4(LYST):c.5784+18T>C
NM_000081.4(LYST):c.5785-16G>A
NM_000081.4(LYST):c.5785-19T>C
NM_000081.4(LYST):c.5785-4T>C
NM_000081.4(LYST):c.5785-6C>T
NM_000081.4(LYST):c.5793T>C (p.Val1931=)
NM_000081.4(LYST):c.579A>G (p.Thr193=)
NM_000081.4(LYST):c.579A>T (p.Thr193=)
NM_000081.4(LYST):c.5802T>G (p.Thr1934=)
NM_000081.4(LYST):c.5817A>G (p.Leu1939=)
NM_000081.4(LYST):c.5823C>T (p.Val1941=)
NM_000081.4(LYST):c.5826C>T (p.Leu1942=)
NM_000081.4(LYST):c.5829C>T (p.Ile1943=)
NM_000081.4(LYST):c.582G>A (p.Ser194=)
NM_000081.4(LYST):c.582G>T (p.Ser194=)
NM_000081.4(LYST):c.5835A>G (p.Ala1945=)
NM_000081.4(LYST):c.5841C>T (p.His1947=)
NM_000081.4(LYST):c.5883A>G (p.Gln1961=)
NM_000081.4(LYST):c.5892T>C (p.His1964=) rs1412343430
NM_000081.4(LYST):c.5922+10A>C rs375422713
NM_000081.4(LYST):c.5922+10A>G rs375422713
NM_000081.4(LYST):c.5922+10A>T
NM_000081.4(LYST):c.5922+11T>C
NM_000081.4(LYST):c.5922+12G>A
NM_000081.4(LYST):c.5922+13T>C
NM_000081.4(LYST):c.5922+15del
NM_000081.4(LYST):c.5922+19T>C
NM_000081.4(LYST):c.5922+9C>T
NM_000081.4(LYST):c.5923-11T>A
NM_000081.4(LYST):c.5923-12T>C
NM_000081.4(LYST):c.5923-17T>A
NM_000081.4(LYST):c.5923-18T>G
NM_000081.4(LYST):c.5923-20A>C
NM_000081.4(LYST):c.5925A>G (p.Glu1975=)
NM_000081.4(LYST):c.5937G>A (p.Gly1979=)
NM_000081.4(LYST):c.5940A>G (p.Gln1980=)
NM_000081.4(LYST):c.5973A>T (p.Ser1991=)
NM_000081.4(LYST):c.5979G>T (p.Val1993=)
NM_000081.4(LYST):c.5991A>G (p.Ala1997=)
NM_000081.4(LYST):c.6006T>A (p.Ser2002=)
NM_000081.4(LYST):c.6045C>T (p.Phe2015=)
NM_000081.4(LYST):c.6063T>G (p.Pro2021=)
NM_000081.4(LYST):c.6066T>C (p.Pro2022=)
NM_000081.4(LYST):c.6072T>C (p.Asn2024=)
NM_000081.4(LYST):c.6087C>T (p.His2029=)
NM_000081.4(LYST):c.6096G>A (p.Thr2032=)
NM_000081.4(LYST):c.6108T>C (p.Phe2036=)
NM_000081.4(LYST):c.6121+13A>G
NM_000081.4(LYST):c.6122-13A>T
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6122-14A>C
NM_000081.4(LYST):c.6122-19A>C
NM_000081.4(LYST):c.6122-4C>A
NM_000081.4(LYST):c.6122-8G>A
NM_000081.4(LYST):c.6135T>C (p.Phe2045=)
NM_000081.4(LYST):c.6141G>A (p.Glu2047=)
NM_000081.4(LYST):c.6144A>G (p.Lys2048=)
NM_000081.4(LYST):c.6153A>C (p.Ser2051=)
NM_000081.4(LYST):c.615T>G (p.Leu205=)
NM_000081.4(LYST):c.6162C>T (p.Tyr2054=)
NM_000081.4(LYST):c.6168G>A (p.Arg2056=)
NM_000081.4(LYST):c.6187A>C (p.Arg2063=)
NM_000081.4(LYST):c.6189G>A (p.Arg2063=)
NM_000081.4(LYST):c.6192C>T (p.Ser2064=)
NM_000081.4(LYST):c.6201C>T (p.Ser2067=)
NM_000081.4(LYST):c.6204T>C (p.Pro2068=)
NM_000081.4(LYST):c.6225A>T (p.Pro2075=)
NM_000081.4(LYST):c.6246A>G (p.Pro2082=)
NM_000081.4(LYST):c.624A>G (p.Leu208=)
NM_000081.4(LYST):c.6253+11C>T
NM_000081.4(LYST):c.6253+13A>G
NM_000081.4(LYST):c.6253+14T>A
NM_000081.4(LYST):c.6253+19G>C
NM_000081.4(LYST):c.6254-11A>G
NM_000081.4(LYST):c.6254-12T>C
NM_000081.4(LYST):c.6254-13C>G
NM_000081.4(LYST):c.6254-4C>A
NM_000081.4(LYST):c.6255A>G (p.Gly2085=)
NM_000081.4(LYST):c.6279A>G (p.Pro2093=)
NM_000081.4(LYST):c.6316C>T (p.Leu2106=)
NM_000081.4(LYST):c.6324A>T (p.Ala2108=)
NM_000081.4(LYST):c.6333T>G (p.Thr2111=)
NM_000081.4(LYST):c.6345A>G (p.Leu2115=)
NM_000081.4(LYST):c.6348G>A (p.Thr2116=)
NM_000081.4(LYST):c.6351A>G (p.Gln2117=)
NM_000081.4(LYST):c.6357A>G (p.Gln2119=)
NM_000081.4(LYST):c.6366T>A (p.Thr2122=)
NM_000081.4(LYST):c.6390C>T (p.Asp2130=)
NM_000081.4(LYST):c.6396A>G (p.Leu2132=)
NM_000081.4(LYST):c.6417T>C (p.Tyr2139=)
NM_000081.4(LYST):c.6426C>T (p.Thr2142=)
NM_000081.4(LYST):c.6441A>G (p.Gln2147=)
NM_000081.4(LYST):c.6456T>C (p.Ser2152=)
NM_000081.4(LYST):c.6459C>T (p.Ser2153=)
NM_000081.4(LYST):c.6462C>T (p.Asp2154=)
NM_000081.4(LYST):c.6465A>G (p.Thr2155=)
NM_000081.4(LYST):c.6480A>G (p.Lys2160=)
NM_000081.4(LYST):c.6486C>T (p.Asp2162=)
NM_000081.4(LYST):c.6489A>G (p.Ala2163=)
NM_000081.4(LYST):c.6498T>C (p.Ser2166=)
NM_000081.4(LYST):c.6519T>C (p.Thr2173=)
NM_000081.4(LYST):c.6519T>G (p.Thr2173=)
NM_000081.4(LYST):c.6528A>G (p.Glu2176=)
NM_000081.4(LYST):c.6549C>T (p.Ala2183=)
NM_000081.4(LYST):c.6570C>T (p.Val2190=) rs1572170906
NM_000081.4(LYST):c.6585G>A (p.Leu2195=)
NM_000081.4(LYST):c.6597G>C (p.Val2199=)
NM_000081.4(LYST):c.6600C>G (p.Val2200=)
NM_000081.4(LYST):c.6619T>C (p.Leu2207=)
NM_000081.4(LYST):c.6624A>T (p.Gly2208=)
NM_000081.4(LYST):c.6642A>G (p.Glu2214=)
NM_000081.4(LYST):c.6645T>C (p.Asp2215=)
NM_000081.4(LYST):c.6648C>T (p.Asp2216=)
NM_000081.4(LYST):c.6663G>A (p.Glu2221=)
NM_000081.4(LYST):c.6669C>T (p.Cys2223=)
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.669T>C (p.Asn223=)
NM_000081.4(LYST):c.66A>C (p.Ala22=) rs757708194
NM_000081.4(LYST):c.66A>G (p.Ala22=)
NM_000081.4(LYST):c.6702C>T (p.Ala2234=)
NM_000081.4(LYST):c.6720C>T (p.His2240=)
NM_000081.4(LYST):c.6732A>C (p.Ala2244=)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.6756A>G (p.Ser2252=)
NM_000081.4(LYST):c.6762C>T (p.Asn2254=)
NM_000081.4(LYST):c.6801T>C (p.Asp2267=)
NM_000081.4(LYST):c.681T>C (p.Ile227=)
NM_000081.4(LYST):c.6822A>G (p.Glu2274=)
NM_000081.4(LYST):c.6831C>G (p.Ala2277=)
NM_000081.4(LYST):c.6831C>T (p.Ala2277=)
NM_000081.4(LYST):c.6834T>C (p.Tyr2278=)
NM_000081.4(LYST):c.6849G>A (p.Glu2283=)
NM_000081.4(LYST):c.6855T>C (p.Asn2285=)
NM_000081.4(LYST):c.6881+18T>G
NM_000081.4(LYST):c.6881+19A>G
NM_000081.4(LYST):c.6881+20C>T
NM_000081.4(LYST):c.6881+8T>A
NM_000081.4(LYST):c.6881+9G>A
NM_000081.4(LYST):c.6882-15T>C
NM_000081.4(LYST):c.6882-18T>C
NM_000081.4(LYST):c.6882-19T>C
NM_000081.4(LYST):c.6882-20T>A
NM_000081.4(LYST):c.6882-4T>G
NM_000081.4(LYST):c.6882-6T>C
NM_000081.4(LYST):c.6918A>G (p.Gly2306=)
NM_000081.4(LYST):c.6921A>G (p.Leu2307=)
NM_000081.4(LYST):c.6939G>T (p.Gly2313=)
NM_000081.4(LYST):c.6952C>T (p.Leu2318=)
NM_000081.4(LYST):c.6954G>A (p.Leu2318=)
NM_000081.4(LYST):c.6960T>C (p.Asp2320=)
NM_000081.4(LYST):c.696G>A (p.Gly232=)
NM_000081.4(LYST):c.6978G>A (p.Val2326=)
NM_000081.4(LYST):c.69G>A (p.Val23=)
NM_000081.4(LYST):c.7011G>A (p.Leu2337=)
NM_000081.4(LYST):c.7017C>T (p.Leu2339=)
NM_000081.4(LYST):c.7023C>T (p.Asn2341=)
NM_000081.4(LYST):c.702C>T (p.Asn234=)
NM_000081.4(LYST):c.7032A>G (p.Ser2344=)
NM_000081.4(LYST):c.7035A>G (p.Pro2345=)
NM_000081.4(LYST):c.7059+13A>G
NM_000081.4(LYST):c.7059+14C>T
NM_000081.4(LYST):c.7059+8C>A
NM_000081.4(LYST):c.705T>G (p.Thr235=)
NM_000081.4(LYST):c.7060-10T>C
NM_000081.4(LYST):c.7060-11T>C
NM_000081.4(LYST):c.7060-11T>G
NM_000081.4(LYST):c.7060-12T>A
NM_000081.4(LYST):c.7060-19A>G
NM_000081.4(LYST):c.7060-6G>A
NM_000081.4(LYST):c.7060-7T>G
NM_000081.4(LYST):c.7060-8_7060-7del
NM_000081.4(LYST):c.7062A>G (p.Leu2354=)
NM_000081.4(LYST):c.7071A>G (p.Ala2357=)
NM_000081.4(LYST):c.7080T>A (p.Ala2360=)
NM_000081.4(LYST):c.7080T>C (p.Ala2360=)
NM_000081.4(LYST):c.708C>T (p.Asp236=)
NM_000081.4(LYST):c.7092G>A (p.Lys2364=)
NM_000081.4(LYST):c.7095A>G (p.Glu2365=)
NM_000081.4(LYST):c.7107A>G (p.Lys2369=)
NM_000081.4(LYST):c.7149G>A (p.Leu2383=)
NM_000081.4(LYST):c.7170A>G (p.Gln2390=)
NM_000081.4(LYST):c.7176G>A (p.Leu2392=)
NM_000081.4(LYST):c.717T>C (p.Ser239=)
NM_000081.4(LYST):c.7206T>C (p.Gly2402=)
NM_000081.4(LYST):c.7218C>A (p.Gly2406=)
NM_000081.4(LYST):c.7218C>T (p.Gly2406=)
NM_000081.4(LYST):c.7229+13T>C
NM_000081.4(LYST):c.7229+15C>T
NM_000081.4(LYST):c.7229+16C>T
NM_000081.4(LYST):c.7229+18T>G
NM_000081.4(LYST):c.7229+7G>A
NM_000081.4(LYST):c.7229+7G>C
NM_000081.4(LYST):c.7229+8T>C
NM_000081.4(LYST):c.7230-10T>C
NM_000081.4(LYST):c.7230-11A>G
NM_000081.4(LYST):c.7230-11A>T
NM_000081.4(LYST):c.7230-16G>A
NM_000081.4(LYST):c.7230-16_7230-15del
NM_000081.4(LYST):c.7254C>T (p.Asn2418=)
NM_000081.4(LYST):c.7284T>A (p.Ile2428=)
NM_000081.4(LYST):c.7291C>T (p.Leu2431=)
NM_000081.4(LYST):c.7299A>C (p.Leu2433=)
NM_000081.4(LYST):c.729C>T (p.Ala243=)
NM_000081.4(LYST):c.72C>T (p.Val24=)
NM_000081.4(LYST):c.7311T>A (p.Ser2437=)
NM_000081.4(LYST):c.7311T>G (p.Ser2437=)
NM_000081.4(LYST):c.7314A>G (p.Leu2438=)
NM_000081.4(LYST):c.7314A>T (p.Leu2438=) rs756139684
NM_000081.4(LYST):c.7389T>C (p.Asp2463=)
NM_000081.4(LYST):c.738T>C (p.Val246=)
NM_000081.4(LYST):c.7395G>A (p.Leu2465=)
NM_000081.4(LYST):c.7410A>G (p.Leu2470=)
NM_000081.4(LYST):c.741C>T (p.Ile247=)
NM_000081.4(LYST):c.7449A>T (p.Gly2483=)
NM_000081.4(LYST):c.7460+11A>T
NM_000081.4(LYST):c.7460+18A>T
NM_000081.4(LYST):c.7460+19T>C
NM_000081.4(LYST):c.7461-11_7461-9del rs777633676
NM_000081.4(LYST):c.7461-14G>C
NM_000081.4(LYST):c.7461-16T>A
NM_000081.4(LYST):c.7461-5T>C
NM_000081.4(LYST):c.7461-6C>A
NM_000081.4(LYST):c.7461-7T>C
NM_000081.4(LYST):c.7485G>A (p.Leu2495=)
NM_000081.4(LYST):c.7491T>C (p.Ala2497=)
NM_000081.4(LYST):c.7521T>C (p.Val2507=)
NM_000081.4(LYST):c.7527T>A (p.Ile2509=)
NM_000081.4(LYST):c.7554A>G (p.Gln2518=)
NM_000081.4(LYST):c.7584A>G (p.Val2528=)
NM_000081.4(LYST):c.7593A>T (p.Gly2531=)
NM_000081.4(LYST):c.7620G>A (p.Arg2540=)
NM_000081.4(LYST):c.7627+11A>T
NM_000081.4(LYST):c.7627+14T>G
NM_000081.4(LYST):c.7627+8T>G
NM_000081.4(LYST):c.7628-20C>A
NM_000081.4(LYST):c.762A>G (p.Pro254=)
NM_000081.4(LYST):c.7641A>C (p.Ala2547=)
NM_000081.4(LYST):c.7641A>G (p.Ala2547=)
NM_000081.4(LYST):c.7644A>G (p.Leu2548=)
NM_000081.4(LYST):c.7659C>G (p.Leu2553=)
NM_000081.4(LYST):c.7659C>T (p.Leu2553=)
NM_000081.4(LYST):c.7668T>C (p.Ala2556=)
NM_000081.4(LYST):c.7674A>G (p.Glu2558=)
NM_000081.4(LYST):c.7686C>T (p.Thr2562=)
NM_000081.4(LYST):c.7689C>A (p.Thr2563=)
NM_000081.4(LYST):c.7689C>T (p.Thr2563=)
NM_000081.4(LYST):c.7707A>G (p.Glu2569=)
NM_000081.4(LYST):c.7722A>G (p.Ser2574=) rs1251999777
NM_000081.4(LYST):c.7725C>G (p.Leu2575=)
NM_000081.4(LYST):c.7728G>A (p.Gln2576=)
NM_000081.4(LYST):c.7737T>C (p.Ser2579=)
NM_000081.4(LYST):c.7743C>T (p.Pro2581=)
NM_000081.4(LYST):c.7749T>C (p.His2583=)
NM_000081.4(LYST):c.774T>C (p.Cys258=)
NM_000081.4(LYST):c.7755A>G (p.Val2585=)
NM_000081.4(LYST):c.7758T>G (p.Val2586=)
NM_000081.4(LYST):c.777T>C (p.His259=)
NM_000081.4(LYST):c.7780+11A>C
NM_000081.4(LYST):c.7780+13A>G
NM_000081.4(LYST):c.7780+17T>C
NM_000081.4(LYST):c.7781-10A>G
NM_000081.4(LYST):c.7781-12A>T
NM_000081.4(LYST):c.7781-16T>C
NM_000081.4(LYST):c.7781-19A>C
NM_000081.4(LYST):c.7781-5T>C
NM_000081.4(LYST):c.7781-6T>A
NM_000081.4(LYST):c.7781-6T>C
NM_000081.4(LYST):c.7781-9C>T
NM_000081.4(LYST):c.7791A>G (p.Lys2597=)
NM_000081.4(LYST):c.7812A>G (p.Glu2604=)
NM_000081.4(LYST):c.7845T>C (p.Asn2615=)
NM_000081.4(LYST):c.7869A>G (p.Gln2623=)
NM_000081.4(LYST):c.7870C>A (p.Arg2624=)
NM_000081.4(LYST):c.7890C>T (p.Asn2630=)
NM_000081.4(LYST):c.7914A>G (p.Glu2638=)
NM_000081.4(LYST):c.7920G>A (p.Ala2640=)
NM_000081.4(LYST):c.7929A>C (p.Leu2643=)
NM_000081.4(LYST):c.792A>G (p.Leu264=)
NM_000081.4(LYST):c.7935G>A (p.Arg2645=)
NM_000081.4(LYST):c.7944T>C (p.Val2648=)
NM_000081.4(LYST):c.7972+10T>A
NM_000081.4(LYST):c.7972+11A>G
NM_000081.4(LYST):c.7972+12G>A
NM_000081.4(LYST):c.7972+17A>G
NM_000081.4(LYST):c.7972+9A>G
NM_000081.4(LYST):c.7973-15T>C
NM_000081.4(LYST):c.7973-16T>A
NM_000081.4(LYST):c.7973-18C>A
NM_000081.4(LYST):c.7973-5C>G
NM_000081.4(LYST):c.7983A>G (p.Ser2661=)
NM_000081.4(LYST):c.7989T>C (p.Ile2663=)
NM_000081.4(LYST):c.7995C>T (p.Asp2665=)
NM_000081.4(LYST):c.8016T>C (p.Asn2672=)
NM_000081.4(LYST):c.8025A>G (p.Gln2675=)
NM_000081.4(LYST):c.8034C>T (p.Thr2678=)
NM_000081.4(LYST):c.8037A>G (p.Ser2679=)
NM_000081.4(LYST):c.8049C>T (p.Thr2683=)
NM_000081.4(LYST):c.8061G>A (p.Glu2687=)
NM_000081.4(LYST):c.8079A>G (p.Glu2693=)
NM_000081.4(LYST):c.8085T>G (p.Ser2695=)
NM_000081.4(LYST):c.8088T>A (p.Ser2696=)
NM_000081.4(LYST):c.8088T>G (p.Ser2696=)
NM_000081.4(LYST):c.8094C>T (p.Phe2698=)
NM_000081.4(LYST):c.8100A>G (p.Pro2700=)
NM_000081.4(LYST):c.810G>A (p.Lys270=)
NM_000081.4(LYST):c.8121A>G (p.Thr2707=)
NM_000081.4(LYST):c.8121A>T (p.Thr2707=)
NM_000081.4(LYST):c.8125C>T (p.Leu2709=)
NM_000081.4(LYST):c.8151+10T>C
NM_000081.4(LYST):c.8151+15T>C
NM_000081.4(LYST):c.8151+9_8151+13del
NM_000081.4(LYST):c.8152-17A>G
NM_000081.4(LYST):c.8152-20C>T
NM_000081.4(LYST):c.8152-5T>G
NM_000081.4(LYST):c.8152-7A>C
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8157A>T (p.Ser2719=)
NM_000081.4(LYST):c.816C>T (p.Asp272=)
NM_000081.4(LYST):c.8175C>G (p.Ser2725=)
NM_000081.4(LYST):c.8181G>A (p.Gln2727=)
NM_000081.4(LYST):c.8190T>C (p.Thr2730=)
NM_000081.4(LYST):c.8208T>C (p.Cys2736=)
NM_000081.4(LYST):c.8211G>A (p.Lys2737=)
NM_000081.4(LYST):c.8217C>A (p.Thr2739=)
NM_000081.4(LYST):c.8244A>C (p.Leu2748=)
NM_000081.4(LYST):c.8259G>T (p.Ser2753=)
NM_000081.4(LYST):c.8271T>A (p.Ala2757=)
NM_000081.4(LYST):c.8280G>A (p.Glu2760=)
NM_000081.4(LYST):c.8292T>A (p.Ile2764=)
NM_000081.4(LYST):c.8307T>C (p.His2769=)
NM_000081.4(LYST):c.8313A>T (p.Pro2771=)
NM_000081.4(LYST):c.8329C>T (p.Leu2777=)
NM_000081.4(LYST):c.8331A>G (p.Leu2777=)
NM_000081.4(LYST):c.8340T>C (p.Cys2780=)
NM_000081.4(LYST):c.8349A>G (p.Pro2783=)
NM_000081.4(LYST):c.8352C>T (p.Ser2784=)
NM_000081.4(LYST):c.8355A>G (p.Leu2785=)
NM_000081.4(LYST):c.8358+11C>T
NM_000081.4(LYST):c.8358+15T>C
NM_000081.4(LYST):c.8358+17_8358+18del
NM_000081.4(LYST):c.8358+20T>C
NM_000081.4(LYST):c.8358+7A>G
NM_000081.4(LYST):c.8358+7A>T rs752173624
NM_000081.4(LYST):c.8359-11T>C
NM_000081.4(LYST):c.8359-13A>C
NM_000081.4(LYST):c.8359-13A>G
NM_000081.4(LYST):c.8359-14T>A
NM_000081.4(LYST):c.8359-15T>C
NM_000081.4(LYST):c.8359-18T>A
NM_000081.4(LYST):c.8359-21_8359-19del
NM_000081.4(LYST):c.8359-9T>C
NM_000081.4(LYST):c.8361T>C (p.His2787=)
NM_000081.4(LYST):c.8367C>A (p.Ala2789=)
NM_000081.4(LYST):c.8392T>C (p.Leu2798=)
NM_000081.4(LYST):c.8416T>C (p.Leu2806=)
NM_000081.4(LYST):c.8418G>A (p.Leu2806=)
NM_000081.4(LYST):c.8421T>C (p.Thr2807=)
NM_000081.4(LYST):c.8424A>G (p.Glu2808=)
NM_000081.4(LYST):c.8427A>G (p.Glu2809=)
NM_000081.4(LYST):c.8461T>C (p.Leu2821=)
NM_000081.4(LYST):c.8472T>C (p.Cys2824=)
NM_000081.4(LYST):c.8496T>C (p.Ser2832=)
NM_000081.4(LYST):c.8499A>G (p.Ala2833=)
NM_000081.4(LYST):c.8514C>T (p.Asp2838=)
NM_000081.4(LYST):c.8535+15C>T
NM_000081.4(LYST):c.8535+18T>G
NM_000081.4(LYST):c.8535+20G>A
NM_000081.4(LYST):c.8536-11A>G
NM_000081.4(LYST):c.8536-13C>G
NM_000081.4(LYST):c.8536-14_8536-11del
NM_000081.4(LYST):c.8536-16T>C
NM_000081.4(LYST):c.8536-5_8536-3del
NM_000081.4(LYST):c.8536-8T>A
NM_000081.4(LYST):c.8556T>C (p.Thr2852=)
NM_000081.4(LYST):c.8568G>A (p.Val2856=)
NM_000081.4(LYST):c.858G>A (p.Val286=)
NM_000081.4(LYST):c.858G>T (p.Val286=)
NM_000081.4(LYST):c.8612+11A>G
NM_000081.4(LYST):c.8612+11A>T
NM_000081.4(LYST):c.8612+14T>G
NM_000081.4(LYST):c.8613-10_8613-8del
NM_000081.4(LYST):c.8613-12T>C
NM_000081.4(LYST):c.8613-15T>C
NM_000081.4(LYST):c.8613-19A>G
NM_000081.4(LYST):c.8613-20C>G
NM_000081.4(LYST):c.8613-5T>C
NM_000081.4(LYST):c.8613-6_8613-4del
NM_000081.4(LYST):c.8624G>A (p.Arg2875His)
NM_000081.4(LYST):c.8628G>A (p.Leu2876=)
NM_000081.4(LYST):c.8640A>G (p.Ser2880=)
NM_000081.4(LYST):c.8646T>C (p.Asp2882=)
NM_000081.4(LYST):c.8649A>T (p.Ile2883=)
NM_000081.4(LYST):c.865C>T (p.Leu289=)
NM_000081.4(LYST):c.8661T>C (p.Ala2887=)
NM_000081.4(LYST):c.8688C>T (p.Leu2896=)
NM_000081.4(LYST):c.8691C>T (p.Ser2897=)
NM_000081.4(LYST):c.8718C>T (p.Ile2906=)
NM_000081.4(LYST):c.8727T>C (p.Ile2909=)
NM_000081.4(LYST):c.8739T>C (p.Tyr2913=)
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.8745A>G (p.Val2915=)
NM_000081.4(LYST):c.8760C>T (p.Ser2920=)
NM_000081.4(LYST):c.876C>T (p.Phe292=)
NM_000081.4(LYST):c.8801+10G>A
NM_000081.4(LYST):c.8801+10G>C
NM_000081.4(LYST):c.8801+11G>A
NM_000081.4(LYST):c.8801+14G>T
NM_000081.4(LYST):c.8801+15G>T
NM_000081.4(LYST):c.8801+8G>A
NM_000081.4(LYST):c.8801+9C>T
NM_000081.4(LYST):c.8802-14C>A
NM_000081.4(LYST):c.8802-14C>G
NM_000081.4(LYST):c.8802-15T>A
NM_000081.4(LYST):c.8802-5T>C
NM_000081.4(LYST):c.8802-6T>C
NM_000081.4(LYST):c.8802-9T>C
NM_000081.4(LYST):c.8802A>G (p.Arg2934=)
NM_000081.4(LYST):c.8808A>G (p.Val2936=)
NM_000081.4(LYST):c.8823C>T (p.Ile2941=)
NM_000081.4(LYST):c.885C>T (p.Gly295=)
NM_000081.4(LYST):c.8886A>G (p.Leu2962=)
NM_000081.4(LYST):c.8931T>C (p.Asp2977=)
NM_000081.4(LYST):c.8943A>G (p.Ser2981=)
NM_000081.4(LYST):c.8948-14T>C
NM_000081.4(LYST):c.8948-17dup
NM_000081.4(LYST):c.8948-19T>A
NM_000081.4(LYST):c.8955C>T (p.Val2985=)
NM_000081.4(LYST):c.8958A>G (p.Lys2986=)
NM_000081.4(LYST):c.8964A>G (p.Pro2988=)
NM_000081.4(LYST):c.8967C>T (p.Leu2989=)
NM_000081.4(LYST):c.8976G>A (p.Leu2992=)
NM_000081.4(LYST):c.8997T>G (p.Ser2999=)
NM_000081.4(LYST):c.900C>T (p.Cys300=)
NM_000081.4(LYST):c.9015C>T (p.Val3005=)
NM_000081.4(LYST):c.9024A>G (p.Lys3008=)
NM_000081.4(LYST):c.9044+15A>G
NM_000081.4(LYST):c.9044+15A>T
NM_000081.4(LYST):c.9044+15del
NM_000081.4(LYST):c.9044+16T>C
NM_000081.4(LYST):c.9045-11T>C
NM_000081.4(LYST):c.9045-15A>T
NM_000081.4(LYST):c.9045-20T>C
NM_000081.4(LYST):c.9045-7T>C
NM_000081.4(LYST):c.9045-9T>C
NM_000081.4(LYST):c.9060C>T (p.Cys3020=)
NM_000081.4(LYST):c.9081A>G (p.Arg3027=)
NM_000081.4(LYST):c.9097T>C (p.Leu3033=)
NM_000081.4(LYST):c.909C>T (p.Ser303=)
NM_000081.4(LYST):c.9106+10dup
NM_000081.4(LYST):c.9107-14A>T
NM_000081.4(LYST):c.9107-19A>T
NM_000081.4(LYST):c.9107-4G>T
NM_000081.4(LYST):c.9141T>C (p.Ala3047=)
NM_000081.4(LYST):c.9159T>C (p.Ser3053=)
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9162+11G>T
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.9162+20T>A
NM_000081.4(LYST):c.9162+9del
NM_000081.4(LYST):c.9163-10T>C
NM_000081.4(LYST):c.9163-15A>C
NM_000081.4(LYST):c.9163-15A>G
NM_000081.4(LYST):c.9163-17C>G
NM_000081.4(LYST):c.9163-18C>T
NM_000081.4(LYST):c.9163-6del
NM_000081.4(LYST):c.9171G>A (p.Gln3057=)
NM_000081.4(LYST):c.9180G>A (p.Leu3060=)
NM_000081.4(LYST):c.9213A>G (p.Glu3071=)
NM_000081.4(LYST):c.9216T>C (p.Ile3072=)
NM_000081.4(LYST):c.9228C>T (p.His3076=)
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9267C>A (p.Ile3089=)
NM_000081.4(LYST):c.9273A>G (p.Leu3091=)
NM_000081.4(LYST):c.927A>G (p.Arg309=)
NM_000081.4(LYST):c.9288A>G (p.Thr3096=)
NM_000081.4(LYST):c.9292C>T (p.Leu3098=)
NM_000081.4(LYST):c.9300A>G (p.Ala3100=)
NM_000081.4(LYST):c.9315+10C>T
NM_000081.4(LYST):c.9315+11C>A
NM_000081.4(LYST):c.9315+12C>T
NM_000081.4(LYST):c.9315+20T>C
NM_000081.4(LYST):c.9315+8C>G
NM_000081.4(LYST):c.9315+8C>T
NM_000081.4(LYST):c.9315+9A>T
NM_000081.4(LYST):c.9316-18C>A
NM_000081.4(LYST):c.9316-5T>C
NM_000081.4(LYST):c.9316-9C>T
NM_000081.4(LYST):c.9318T>G (p.Val3106=)
NM_000081.4(LYST):c.9330A>G (p.Val3110=)
NM_000081.4(LYST):c.9339T>C (p.Asn3113=)
NM_000081.4(LYST):c.9357C>G (p.Leu3119=)
NM_000081.4(LYST):c.9369G>A (p.Leu3123=)
NM_000081.4(LYST):c.9381C>T (p.Asn3127=)
NM_000081.4(LYST):c.9387C>G (p.Thr3129=)
NM_000081.4(LYST):c.9387C>T (p.Thr3129=)
NM_000081.4(LYST):c.9414G>A (p.Gly3138=)
NM_000081.4(LYST):c.9414G>T (p.Gly3138=)
NM_000081.4(LYST):c.9450C>T (p.Asn3150=)
NM_000081.4(LYST):c.9462C>G (p.Gly3154=)
NM_000081.4(LYST):c.9465A>G (p.Arg3155=)
NM_000081.4(LYST):c.9468C>T (p.Ser3156=) rs1663290633
NM_000081.4(LYST):c.948C>A (p.Thr316=)
NM_000081.4(LYST):c.948C>G (p.Thr316=)
NM_000081.4(LYST):c.948C>T (p.Thr316=)
NM_000081.4(LYST):c.9492T>G (p.Pro3164=)
NM_000081.4(LYST):c.9495G>C (p.Val3165=)
NM_000081.4(LYST):c.9501A>G (p.Pro3167=)
NM_000081.4(LYST):c.9510T>A (p.Leu3170=)
NM_000081.4(LYST):c.9519C>T (p.Tyr3173=)
NM_000081.4(LYST):c.9549G>A (p.Leu3183=)
NM_000081.4(LYST):c.9560+12G>C
NM_000081.4(LYST):c.9560+14A>G
NM_000081.4(LYST):c.9560+19C>T
NM_000081.4(LYST):c.9561-12C>G
NM_000081.4(LYST):c.9561-15G>T
NM_000081.4(LYST):c.9561-17T>G
NM_000081.4(LYST):c.9561-8T>G
NM_000081.4(LYST):c.9561-9T>C
NM_000081.4(LYST):c.957G>A (p.Pro319=)
NM_000081.4(LYST):c.957G>T (p.Pro319=)
NM_000081.4(LYST):c.9621A>G (p.Thr3207=)
NM_000081.4(LYST):c.9624C>T (p.Tyr3208=)
NM_000081.4(LYST):c.9627+10G>A
NM_000081.4(LYST):c.9627+11T>C
NM_000081.4(LYST):c.9627+13T>G
NM_000081.4(LYST):c.9627+17dup
NM_000081.4(LYST):c.9627+19C>T
NM_000081.4(LYST):c.9627+20G>A
NM_000081.4(LYST):c.9627+7T>C
NM_000081.4(LYST):c.9628-11G>A
NM_000081.4(LYST):c.9628-11G>T
NM_000081.4(LYST):c.9628-12C>G
NM_000081.4(LYST):c.9628-13C>T
NM_000081.4(LYST):c.9628-18A>G
NM_000081.4(LYST):c.9628-19G>T
NM_000081.4(LYST):c.9628-28_9628-20del
NM_000081.4(LYST):c.9628-7C>A
NM_000081.4(LYST):c.9628-8T>C
NM_000081.4(LYST):c.9636G>A (p.Glu3212=)
NM_000081.4(LYST):c.9639A>G (p.Glu3213=)
NM_000081.4(LYST):c.9681C>A (p.Pro3227=)
NM_000081.4(LYST):c.9681C>G (p.Pro3227=)
NM_000081.4(LYST):c.9681C>T (p.Pro3227=)
NM_000081.4(LYST):c.9690C>T (p.Pro3230=)
NM_000081.4(LYST):c.9723C>T (p.Gly3241=)
NM_000081.4(LYST):c.9738C>T (p.Phe3246=)
NM_000081.4(LYST):c.9741G>C (p.Leu3247=)
NM_000081.4(LYST):c.9747G>A (p.Arg3249=)
NM_000081.4(LYST):c.9777C>A (p.Ala3259=)
NM_000081.4(LYST):c.9784+10T>G
NM_000081.4(LYST):c.9784+11A>G
NM_000081.4(LYST):c.9784+15A>G
NM_000081.4(LYST):c.9784+16C>G
NM_000081.4(LYST):c.9784+17T>G
NM_000081.4(LYST):c.9785-11dup
NM_000081.4(LYST):c.9785-20T>G
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744
NM_000081.4(LYST):c.9785-4A>G rs866556712
NM_000081.4(LYST):c.9785-5T>A
NM_000081.4(LYST):c.9785-5T>C
NM_000081.4(LYST):c.9801T>C (p.Ile3267=)
NM_000081.4(LYST):c.981C>A (p.Leu327=)
NM_000081.4(LYST):c.9822T>C (p.Ser3274=)
NM_000081.4(LYST):c.9825A>C (p.Thr3275=)
NM_000081.4(LYST):c.9825A>G (p.Thr3275=)
NM_000081.4(LYST):c.9838C>A (p.Arg3280=)
NM_000081.4(LYST):c.9843C>T (p.Leu3281=)
NM_000081.4(LYST):c.9846A>C (p.Ser3282=)
NM_000081.4(LYST):c.9873A>G (p.Lys3291=)
NM_000081.4(LYST):c.9891T>C (p.Phe3297=)
NM_000081.4(LYST):c.9900T>C (p.Leu3300=)
NM_000081.4(LYST):c.9906G>A (p.Glu3302=)
NM_000081.4(LYST):c.990A>G (p.Thr330=)
NM_000081.4(LYST):c.9925+10T>G
NM_000081.4(LYST):c.9925+14T>G
NM_000081.4(LYST):c.9925+15T>C
NM_000081.4(LYST):c.9925+9A>G
NM_000081.4(LYST):c.9926-11T>A
NM_000081.4(LYST):c.9926-16T>C
NM_000081.4(LYST):c.9926-17T>C
NM_000081.4(LYST):c.9926-8T>G
NM_000081.4(LYST):c.9930T>C (p.Phe3310=)
NM_000081.4(LYST):c.9942G>C (p.Val3314=)
NM_000081.4(LYST):c.9960G>C (p.Arg3320=)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9972C>T (p.Val3324=)
NM_000081.4(LYST):c.9984T>G (p.Pro3328=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000081.4(LYST):c.9990G>C (p.Ala3330=)
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
NM_000116.5(TAFAZZIN):c.109+15G>A
NM_000116.5(TAFAZZIN):c.109+15del
NM_000116.5(TAFAZZIN):c.109+20G>A
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.110-15C>G
NM_000116.5(TAFAZZIN):c.110-19A>C
NM_000116.5(TAFAZZIN):c.110-20G>T
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
NM_000116.5(TAFAZZIN):c.238+10C>A
NM_000116.5(TAFAZZIN):c.238+7G>A
NM_000116.5(TAFAZZIN):c.238+9G>C
NM_000116.5(TAFAZZIN):c.239-11C>T
NM_000116.5(TAFAZZIN):c.239-17C>G
NM_000116.5(TAFAZZIN):c.239-17C>T
NM_000116.5(TAFAZZIN):c.239-18G>A
NM_000116.5(TAFAZZIN):c.239-19A>G
NM_000116.5(TAFAZZIN):c.239-6C>T
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.239-7C>T rs2148190472
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
NM_000116.5(TAFAZZIN):c.284+17C>T
NM_000116.5(TAFAZZIN):c.284+8_284+10del
NM_000116.5(TAFAZZIN):c.285-14C>T
NM_000116.5(TAFAZZIN):c.285-5C>T
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) rs2148191873
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) rs1569552726
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
NM_000116.5(TAFAZZIN):c.370+11C>T
NM_000116.5(TAFAZZIN):c.370+12del
NM_000116.5(TAFAZZIN):c.370+16A>G
NM_000116.5(TAFAZZIN):c.370+18C>T
NM_000116.5(TAFAZZIN):c.370+19G>A
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.371-17T>C
NM_000116.5(TAFAZZIN):c.371-19A>T
NM_000116.5(TAFAZZIN):c.371-4G>A
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
NM_000116.5(TAFAZZIN):c.460+10G>A
NM_000116.5(TAFAZZIN):c.460+10G>T
NM_000116.5(TAFAZZIN):c.460+17G>A
NM_000116.5(TAFAZZIN):c.461-13C>A
NM_000116.5(TAFAZZIN):c.461-14C>A
NM_000116.5(TAFAZZIN):c.461-15G>A
NM_000116.5(TAFAZZIN):c.461-18G>A
NM_000116.5(TAFAZZIN):c.461-19A>G
NM_000116.5(TAFAZZIN):c.461-22_461-14del
NM_000116.5(TAFAZZIN):c.461-7C>T
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) rs2148210856
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
NM_000116.5(TAFAZZIN):c.541+10G>A rs1396794207
NM_000116.5(TAFAZZIN):c.541+13G>A
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+8G>A
NM_000116.5(TAFAZZIN):c.542-6C>T
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
NM_000116.5(TAFAZZIN):c.584-11C>A
NM_000116.5(TAFAZZIN):c.584-15C>G
NM_000116.5(TAFAZZIN):c.584-9C>A rs2068583124
NM_000116.5(TAFAZZIN):c.584-9C>G
NM_000116.5(TAFAZZIN):c.584-9C>T
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
NM_000116.5(TAFAZZIN):c.646+12G>A
NM_000116.5(TAFAZZIN):c.646+13A>T
NM_000116.5(TAFAZZIN):c.646+15G>A
NM_000116.5(TAFAZZIN):c.646+18G>A
NM_000116.5(TAFAZZIN):c.646+20C>G
NM_000116.5(TAFAZZIN):c.646+7C>T
NM_000116.5(TAFAZZIN):c.646+8T>C
NM_000116.5(TAFAZZIN):c.647-14C>G
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
NM_000116.5(TAFAZZIN):c.699+15C>T
NM_000116.5(TAFAZZIN):c.699+17G>A
NM_000116.5(TAFAZZIN):c.699+19C>T
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
NM_000116.5(TAFAZZIN):c.700-14C>T
NM_000116.5(TAFAZZIN):c.700-19C>G
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) rs2148214484
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
NM_000116.5(TAFAZZIN):c.777+19C>T
NM_000116.5(TAFAZZIN):c.777+20C>T
NM_000116.5(TAFAZZIN):c.778-6C>A
NM_000116.5(TAFAZZIN):c.778-8del
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
NM_000377.3(WAS):c.1080A>C (p.Pro360=) rs1409607754
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
NM_000377.3(WAS):c.1086A>G (p.Pro362=) rs1304836055
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
NM_000377.3(WAS):c.1197A>G (p.Pro399=) rs1602179584
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
NM_000377.3(WAS):c.132+14C>G
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
NM_000377.3(WAS):c.133-15G>A
NM_000377.3(WAS):c.133-19C>T
NM_000377.3(WAS):c.133-5C>T
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
NM_000377.3(WAS):c.1338+13A>G
NM_000377.3(WAS):c.1338+13A>T
NM_000377.3(WAS):c.1338+9A>C
NM_000377.3(WAS):c.1339-6C>G rs1207805593
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
NM_000377.3(WAS):c.135G>A (p.Thr45=)
NM_000377.3(WAS):c.135G>T (p.Thr45=)
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
NM_000377.3(WAS):c.136C>T (p.Leu46=)
NM_000377.3(WAS):c.138G>A (p.Leu46=)
NM_000377.3(WAS):c.141C>T (p.Ala47=) rs1602176588
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
NM_000377.3(WAS):c.1453+12C>T
NM_000377.3(WAS):c.1453+20G>C
NM_000377.3(WAS):c.1453+9A>C
NM_000377.3(WAS):c.1454-11T>C
NM_000377.3(WAS):c.1454-12C>A
NM_000377.3(WAS):c.1454-12C>T
NM_000377.3(WAS):c.1454-5T>C
NM_000377.3(WAS):c.1454-6C>T
NM_000377.3(WAS):c.1454-7C>T
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
NM_000377.3(WAS):c.150T>A (p.Val50=)
NM_000377.3(WAS):c.159G>A (p.Leu53=)
NM_000377.3(WAS):c.168G>A (p.Ala56=)
NM_000377.3(WAS):c.189C>T (p.His63=)
NM_000377.3(WAS):c.204T>C (p.His68=)
NM_000377.3(WAS):c.210G>A (p.Gly70=) rs886038288
NM_000377.3(WAS):c.222C>T (p.Phe74=)
NM_000377.3(WAS):c.225G>A (p.Val75=)
NM_000377.3(WAS):c.243G>A (p.Lys81=)
NM_000377.3(WAS):c.273+11C>A
NM_000377.3(WAS):c.273+11C>G
NM_000377.3(WAS):c.273+11C>T
NM_000377.3(WAS):c.273+14C>G
NM_000377.3(WAS):c.273+17C>T
NM_000377.3(WAS):c.273+19A>G
NM_000377.3(WAS):c.273+6C>T
NM_000377.3(WAS):c.273+8_273+9insA
NM_000377.3(WAS):c.273+9C>T
NM_000377.3(WAS):c.273+9_273+11dup
NM_000377.3(WAS):c.274-20C>A
NM_000377.3(WAS):c.283C>T (p.Leu95=)
NM_000377.3(WAS):c.303G>A (p.Leu101=)
NM_000377.3(WAS):c.30C>A (p.Pro10=)
NM_000377.3(WAS):c.30C>G (p.Pro10=)
NM_000377.3(WAS):c.30C>T (p.Pro10=)
NM_000377.3(WAS):c.348C>G (p.Thr116=)
NM_000377.3(WAS):c.360+13C>T
NM_000377.3(WAS):c.361-10G>A
NM_000377.3(WAS):c.361-12A>G rs781885441
NM_000377.3(WAS):c.361-8A>T
NM_000377.3(WAS):c.369A>G (p.Gln123=)
NM_000377.3(WAS):c.372G>A (p.Ala124=)
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
NM_000377.3(WAS):c.396C>T (p.Asp132=)
NM_000377.3(WAS):c.405G>A (p.Gln135=)
NM_000377.3(WAS):c.438A>G (p.Gln146=)
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
NM_000377.3(WAS):c.463+10C>T
NM_000377.3(WAS):c.463+12A>G
NM_000377.3(WAS):c.464-13C>T
NM_000377.3(WAS):c.464-9T>C
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.505+10C>A
NM_000377.3(WAS):c.505+20T>C
NM_000377.3(WAS):c.506-10A>G
NM_000377.3(WAS):c.506-15A>G
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
NM_000377.3(WAS):c.519G>T (p.Gly173=)
NM_000377.3(WAS):c.51G>A (p.Ala17=)
NM_000377.3(WAS):c.51G>C (p.Ala17=)
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
NM_000377.3(WAS):c.540T>C (p.His180=)
NM_000377.3(WAS):c.559+14_559+32del rs782477646
NM_000377.3(WAS):c.559+6_559+13dup
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000377.3(WAS):c.560-6C>T
NM_000377.3(WAS):c.570G>A (p.Val190=)
NM_000377.3(WAS):c.579C>T (p.Leu193=)
NM_000377.3(WAS):c.585G>T (p.Leu195=)
NM_000377.3(WAS):c.588G>C (p.Gly196=)
NM_000377.3(WAS):c.603C>T (p.Asp201=) rs2062421636
NM_000377.3(WAS):c.624G>A (p.Thr208=) rs2147264874
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
NM_000377.3(WAS):c.642G>C (p.Gly214=)
NM_000377.3(WAS):c.663C>T (p.Ser221=)
NM_000377.3(WAS):c.669T>G (p.Ala223=) rs928562174
NM_000377.3(WAS):c.675G>A (p.Lys225=)
NM_000377.3(WAS):c.690G>A (p.Lys230=)
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
NM_000377.3(WAS):c.735-10C>A
NM_000377.3(WAS):c.735-16_735-15insGT
NM_000377.3(WAS):c.735-5C>T
NM_000377.3(WAS):c.744C>T (p.Ser248=)
NM_000377.3(WAS):c.747C>T (p.His249=)
NM_000377.3(WAS):c.75C>T (p.Thr25=)
NM_000377.3(WAS):c.768T>C (p.Asn256=) rs2147265705
NM_000377.3(WAS):c.777+11T>A
NM_000377.3(WAS):c.777+12del
NM_000377.3(WAS):c.777+17T>C
NM_000377.3(WAS):c.778-11C>T
NM_000377.3(WAS):c.778-14T>C
NM_000377.3(WAS):c.778-8C>T
NM_000377.3(WAS):c.780G>A (p.Val260=) rs2147265866
NM_000377.3(WAS):c.789C>T (p.Leu263=)
NM_000377.3(WAS):c.795A>C (p.Pro265=)
NM_000377.3(WAS):c.810G>T (p.Leu270=)
NM_000377.3(WAS):c.819G>A (p.Arg273=)
NM_000377.3(WAS):c.831C>T (p.Ser277=)
NM_000377.3(WAS):c.834G>A (p.Glu278=)
NM_000377.3(WAS):c.846C>T (p.Thr282=)
NM_000377.3(WAS):c.852C>G (p.Ala284=)
NM_000377.3(WAS):c.858C>T (p.Thr286=) rs2147266003
NM_000377.3(WAS):c.931+10T>A
NM_000377.3(WAS):c.931+14T>C
NM_000377.3(WAS):c.931+15C>T
NM_000377.3(WAS):c.931+19A>C
NM_000377.3(WAS):c.931+20C>T
NM_000377.3(WAS):c.931+7C>A
NM_000377.3(WAS):c.932-12C>A
NM_000377.3(WAS):c.932-12C>T
NM_000377.3(WAS):c.932-15A>G
NM_000377.3(WAS):c.932-18_932-17del
NM_000377.3(WAS):c.932-5C>T
NM_000377.3(WAS):c.932-9C>A
NM_000377.3(WAS):c.932-9_932-8dup
NM_000377.3(WAS):c.942G>A (p.Pro314=)
NM_000377.3(WAS):c.987C>T (p.Pro329=)
NM_000377.3(WAS):c.996G>C (p.Val332=)
NM_000377.3(WAS):c.996G>T (p.Val332=)
NM_000377.3(WAS):c.999G>C (p.Gly333=)
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
NM_000760.4(CSF3R):c.105C>T (p.Ile35=) rs3917954
NM_000760.4(CSF3R):c.1071+13G>A rs1470411346
NM_000760.4(CSF3R):c.1072-14C>G
NM_000760.4(CSF3R):c.1072-18T>C
NM_000760.4(CSF3R):c.1072-8C>A rs2124119433
NM_000760.4(CSF3R):c.1072-9G>A rs1650746294
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
NM_000760.4(CSF3R):c.1176G>A (p.Glu392=)
NM_000760.4(CSF3R):c.1197G>A (p.Leu399=) rs898927823
NM_000760.4(CSF3R):c.1212G>A (p.Gln404=) rs559429248
NM_000760.4(CSF3R):c.1245G>C (p.Gly415=)
NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu)
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
NM_000760.4(CSF3R):c.1285+17G>T
NM_000760.4(CSF3R):c.1286-4C>T rs1570583247
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) rs2124111294
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) rs367641463
NM_000760.4(CSF3R):c.1474+16A>G
NM_000760.4(CSF3R):c.1474+19G>T rs747544404
NM_000760.4(CSF3R):c.1506C>T (p.Ile502=)
NM_000760.4(CSF3R):c.1512G>A (p.Val504=) rs1650544652
NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)
NM_000760.4(CSF3R):c.1530C>T (p.Asp510=)
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
NM_000760.4(CSF3R):c.1576+11T>C
NM_000760.4(CSF3R):c.1577-20G>A
NM_000760.4(CSF3R):c.1587T>C (p.His529=) rs778419529
NM_000760.4(CSF3R):c.1605A>G (p.Leu535=)
NM_000760.4(CSF3R):c.168C>T (p.Asp56=)
NM_000760.4(CSF3R):c.1723+13T>G
NM_000760.4(CSF3R):c.1723+19C>T
NM_000760.4(CSF3R):c.1724-10C>A
NM_000760.4(CSF3R):c.1724-7C>T
NM_000760.4(CSF3R):c.1724-9C>T
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
NM_000760.4(CSF3R):c.1773G>A (p.Glu591=) rs2124102034
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
NM_000760.4(CSF3R):c.1864+17G>A
NM_000760.4(CSF3R):c.1865-16C>A
NM_000760.4(CSF3R):c.1865-19G>C
NM_000760.4(CSF3R):c.1865-20C>T rs375651066
NM_000760.4(CSF3R):c.1865-4G>A
NM_000760.4(CSF3R):c.1869G>T (p.Gly623=)
NM_000760.4(CSF3R):c.1899C>T (p.Phe633=)
NM_000760.4(CSF3R):c.1958+18A>G rs755191694
NM_000760.4(CSF3R):c.1958+19C>T
NM_000760.4(CSF3R):c.1958+20C>G
NM_000760.4(CSF3R):c.1959-6C>T
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
NM_000760.4(CSF3R):c.2040+13G>A
NM_000760.4(CSF3R):c.2040+15G>A
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) rs538096821
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) rs1481867581
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) rs138866886
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) rs946096806
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) rs1557585422
NM_000760.4(CSF3R):c.2403A>G (p.Val801=) rs2124095601
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) rs1650313816
NM_000760.4(CSF3R):c.270C>T (p.Pro90=)
NM_000760.4(CSF3R):c.273C>T (p.His91=)
NM_000760.4(CSF3R):c.324C>T (p.Ser108=) rs2124136036
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
NM_000760.4(CSF3R):c.361+15C>T
NM_000760.4(CSF3R):c.366T>G (p.Pro122=) rs201313973
NM_000760.4(CSF3R):c.420C>T (p.Leu140=) rs1650945872
NM_000760.4(CSF3R):c.435G>A (p.Glu145=)
NM_000760.4(CSF3R):c.485+13C>T rs2124129153
NM_000760.4(CSF3R):c.485+18C>T rs1421627142
NM_000760.4(CSF3R):c.485+8G>A
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
NM_000760.4(CSF3R):c.57C>T (p.Leu19=)
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
NM_000760.4(CSF3R):c.618G>A (p.Glu206=) rs113122356
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
NM_000760.4(CSF3R):c.65-6C>A
NM_000760.4(CSF3R):c.65-8C>T rs1322634596
NM_000760.4(CSF3R):c.673+12A>G
NM_000760.4(CSF3R):c.673+15G>A
NM_000760.4(CSF3R):c.674-10C>T
NM_000760.4(CSF3R):c.674-15C>T
NM_000760.4(CSF3R):c.679C>T (p.Leu227=)
NM_000760.4(CSF3R):c.723G>A (p.Ala241=) rs202080839
NM_000760.4(CSF3R):c.762G>A (p.Glu254=)
NM_000760.4(CSF3R):c.841C>T (p.Leu281=)
NM_000760.4(CSF3R):c.843+19T>A
NM_000760.4(CSF3R):c.843+19T>C
NM_000760.4(CSF3R):c.843+9G>A
NM_000760.4(CSF3R):c.844-8C>G rs200218331
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
NM_000760.4(CSF3R):c.918G>A (p.Gln306=)
NM_000760.4(CSF3R):c.927C>T (p.Cys309=) rs1570588349
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
NM_000760.4(CSF3R):c.997+13T>A
NM_000760.4(CSF3R):c.997+13T>C
NM_000760.4(CSF3R):c.998-18_998-17dup
NM_000760.4(CSF3R):c.998-19C>T rs2124121672
NM_000760.4(CSF3R):c.99C>A (p.Ala33=) rs1557597747
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=) rs782726848
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=) rs2134628485
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=) rs1555190535
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=) rs1555190521
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=) rs1555190509
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=) rs368615623
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=) rs1555190486
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=) rs1592108548
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=) rs1555190477
NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=) rs2134627864
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=) rs1555191843
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=) rs2134627842
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=) rs1555190455
NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=) rs1592108432
NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)
NM_001164277.2(SLC37A4):c.1124+12C>T
NM_001164277.2(SLC37A4):c.1124+20G>A
NM_001164277.2(SLC37A4):c.1124+26C>T rs782811246
NM_001164277.2(SLC37A4):c.1124+34C>T rs1555190425
NM_001164277.2(SLC37A4):c.1124+36C>A rs547915912
NM_001164277.2(SLC37A4):c.1124+38C>G rs1184172656
NM_001164277.2(SLC37A4):c.1124+38C>T rs1184172656
NM_001164277.2(SLC37A4):c.1124+51T>C rs1555190420
NM_001164277.2(SLC37A4):c.1124+55G>A rs1555190418
NM_001164277.2(SLC37A4):c.1124+57C>T rs1555190417
NM_001164277.2(SLC37A4):c.1124+7G>A rs1555190438
NM_001164277.2(SLC37A4):c.1125-10C>G
NM_001164277.2(SLC37A4):c.1125-11C>A
NM_001164277.2(SLC37A4):c.1125-12T>A rs2134627316
NM_001164277.2(SLC37A4):c.1125-14T>C rs1555190405
NM_001164277.2(SLC37A4):c.1125-4A>G
NM_001164277.2(SLC37A4):c.1125-6T>G rs782323567
NM_001164277.2(SLC37A4):c.1125-6del rs1565686054
NM_001164277.2(SLC37A4):c.1125-7C>A
NM_001164277.2(SLC37A4):c.1125-9C>T rs1592108198
NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=) rs962377661
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=) rs2134627010
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=) rs1943511879
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=) rs1943511456
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=) rs1943511456
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=) rs1464199067
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=) rs1943511012
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=) rs1555190394
NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=) rs1555190388
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=) rs2134626678
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=) rs781909798
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=) rs1592107877
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=) rs1555190367
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=) rs2134626404
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=) rs2134626360
NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=) rs782137743
NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=) rs1943673151
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=) rs1555191835
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=) rs373540523
NM_001164277.2(SLC37A4):c.148+16G>A rs2134643318
NM_001164277.2(SLC37A4):c.148+20G>C
NM_001164277.2(SLC37A4):c.148+7_148+8del
NM_001164277.2(SLC37A4):c.149-11G>A rs1555191644
NM_001164277.2(SLC37A4):c.149-17T>C
NM_001164277.2(SLC37A4):c.149-18G>C
NM_001164277.2(SLC37A4):c.149-20A>G rs1555191648
NM_001164277.2(SLC37A4):c.149-21T>G rs1555191649
NM_001164277.2(SLC37A4):c.149-22C>T rs369353938
NM_001164277.2(SLC37A4):c.149-35del rs1555191655
NM_001164277.2(SLC37A4):c.149-6del rs2134640825
NM_001164277.2(SLC37A4):c.149-8C>G
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=) rs202137454
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=) rs1352116986
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=) rs2134640708
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=) rs1555191904
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=) rs1555191904
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=) rs782548085
NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)
NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=) rs1295497535
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=) rs2134640432
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)
NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=) rs2134640137
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=) rs1555191590
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=) rs1555191590
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=) rs782292086
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=) rs2134640047
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=) rs2134644380
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=) rs1555191568
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=) rs2134639947
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=) rs561054469
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=) rs782803340
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=) rs2134639818
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=) rs11552540
NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)
NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) rs1376674013
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=) rs782188658
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=) rs1555191533
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=) rs1311198538
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=) rs1555191522
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=) rs1555191518
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=) rs1218213940
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=) rs137940481
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)
NM_001164277.2(SLC37A4):c.381+18G>T
NM_001164277.2(SLC37A4):c.381+8C>T rs782284449
NM_001164277.2(SLC37A4):c.382-19G>T rs1380601197
NM_001164277.2(SLC37A4):c.382-20T>G
NM_001164277.2(SLC37A4):c.382-5C>T
NM_001164277.2(SLC37A4):c.382-7C>T rs2134638535
NM_001164277.2(SLC37A4):c.382-8C>T rs2134638543
NM_001164277.2(SLC37A4):c.382-9G>C rs985534169
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=) rs377452076
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=) rs2134638267
NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)
NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=) rs766732034
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=) rs766732034
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=) rs1250941400
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=) rs2134638161
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=) rs1555191349
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=) rs1395373487
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=) rs1395094300
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=) rs775227522
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=) rs2134637952
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)
NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=) rs369409989
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=) rs1010838306
NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=) rs1780828602
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=) rs760217061
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=) rs1300746467
NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=) rs891986567
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=) rs1555191248
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=) rs1555191231
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=) rs1555191222
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=) rs1565689217
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=) rs750870724
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=) rs368398459
NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)
NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.2(SLC37A4):c.626+10C>A rs757924969
NM_001164277.2(SLC37A4):c.626+10C>G
NM_001164277.2(SLC37A4):c.626+10C>T rs757924969
NM_001164277.2(SLC37A4):c.626+11A>T rs747150144
NM_001164277.2(SLC37A4):c.626+15A>G
NM_001164277.2(SLC37A4):c.626+16G>C rs74673344
NM_001164277.2(SLC37A4):c.626+30G>A rs1555191200
NM_001164277.2(SLC37A4):c.626+35C>G rs1555191199
NM_001164277.2(SLC37A4):c.626+7C>T rs1555191207
NM_001164277.2(SLC37A4):c.626+8C>T
NM_001164277.2(SLC37A4):c.627-11C>T
NM_001164277.2(SLC37A4):c.627-16C>G rs1011663035
NM_001164277.2(SLC37A4):c.627-16C>T
NM_001164277.2(SLC37A4):c.627-20C>T rs1191557410
NM_001164277.2(SLC37A4):c.627-6C>T rs782514947
NM_001164277.2(SLC37A4):c.627-7C>T
NM_001164277.2(SLC37A4):c.627-8A>G
NM_001164277.2(SLC37A4):c.627-9C>T
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=) rs2134635379
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=) rs1257759060
NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)
NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=) rs1555191117
NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=) rs1943590147
NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=) rs2134644140
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=) rs925741468
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=) rs782333619
NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=) rs1223570543
NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) rs782547500
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=) rs782584884
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=) rs782774153
NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=) rs1555191052
NM_001164277.2(SLC37A4):c.785+15G>A
NM_001164277.2(SLC37A4):c.785+19C>G
NM_001164277.2(SLC37A4):c.785+8G>A rs782075266
NM_001164277.2(SLC37A4):c.786-17A>G
NM_001164277.2(SLC37A4):c.786-18_786-16del rs1555191005
NM_001164277.2(SLC37A4):c.786-20A>G rs1555191008
NM_001164277.2(SLC37A4):c.786-22_786-13del
NM_001164277.2(SLC37A4):c.786-6C>T rs2134633894
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=) rs2134633851
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=) rs1943675742
NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=) rs2134633831
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=) rs1468281804
NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)
NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=) rs782246067
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=) rs1555190933
NM_001164277.2(SLC37A4):c.871+15G>A
NM_001164277.2(SLC37A4):c.871+17G>A
NM_001164277.2(SLC37A4):c.871+19C>G
NM_001164277.2(SLC37A4):c.871+19C>T rs782487764
NM_001164277.2(SLC37A4):c.871+7G>C rs782177602
NM_001164277.2(SLC37A4):c.871+8G>C rs2134633461
NM_001164277.2(SLC37A4):c.872-10G>A rs1555190776
NM_001164277.2(SLC37A4):c.872-15_872-9dup rs782321213
NM_001164277.2(SLC37A4):c.872-17C>T rs1286218803
NM_001164277.2(SLC37A4):c.872-4A>C
NM_001164277.2(SLC37A4):c.872-4A>G
NM_001164277.2(SLC37A4):c.872-8A>G
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val) rs200147602
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=) rs974857648
NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=) rs1555190765
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=) rs1171604521
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=) rs1388277495
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=) rs2134631794
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=) rs374287329
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=) rs1555190749
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=) rs1555190747
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=) rs1555190743
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=) rs782577230
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=) rs782577230
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=) rs1555190722
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=) rs973616226
NM_001164277.2(SLC37A4):c.985+10A>G rs2134631117
NM_001164277.2(SLC37A4):c.985+15C>G
NM_001164277.2(SLC37A4):c.985+18G>A
NM_001164277.2(SLC37A4):c.985+196del rs1555190657
NM_001164277.2(SLC37A4):c.985+206C>T rs1555190652
NM_001164277.2(SLC37A4):c.985+20C>T rs1453624071
NM_001164277.2(SLC37A4):c.985+234C>T rs1555190642
NM_001164277.2(SLC37A4):c.985+238dup rs1555190640
NM_001164277.2(SLC37A4):c.985+252C>G rs1173737788
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT rs1555190633
NM_001164277.2(SLC37A4):c.985+278G>A rs781909226
NM_001164277.2(SLC37A4):c.985+286G>A rs1019246810
NM_001164277.2(SLC37A4):c.985+288T>G rs1555190624
NM_001164277.2(SLC37A4):c.985+9G>C
NM_001164277.2(SLC37A4):c.986-13C>A rs2134628756
NM_001164277.2(SLC37A4):c.986-14T>G rs863224211
NM_001164277.2(SLC37A4):c.986-4G>A
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=) rs1555190553
NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)
NM_001301365.1(LYST):c.-98+16250G>C
NM_001710.6(CFB):c.1942A>T (p.Lys648Ter) rs2151787951
NM_001972.4(ELANE):c.102G>T (p.Arg34=) rs1241470202
NM_001972.4(ELANE):c.114C>T (p.Pro38=) rs200245073
NM_001972.4(ELANE):c.120G>A (p.Ala40=)
NM_001972.4(ELANE):c.138C>T (p.Ser46=) rs2145144082
NM_001972.4(ELANE):c.150C>A (p.Arg50=)
NM_001972.4(ELANE):c.210C>T (p.His70=) rs1029080359
NM_001972.4(ELANE):c.213C>T (p.Cys71=) rs1368129967
NM_001972.4(ELANE):c.224+9C>G rs1418775355
NM_001972.4(ELANE):c.224+9C>T rs1418775355
NM_001972.4(ELANE):c.225-16T>C
NM_001972.4(ELANE):c.225-17C>T
NM_001972.4(ELANE):c.225-4G>A rs2145144905
NM_001972.4(ELANE):c.225-6C>T
NM_001972.4(ELANE):c.225-8C>G
NM_001972.4(ELANE):c.237G>T (p.Ala79=) rs1158107493
NM_001972.4(ELANE):c.243G>A (p.Arg81=)
NM_001972.4(ELANE):c.24G>C (p.Ala8=) rs199901033
NM_001972.4(ELANE):c.258C>T (p.Ala86=) rs2145145024
NM_001972.4(ELANE):c.261T>C (p.His87=) rs2145145030
NM_001972.4(ELANE):c.270G>A (p.Ser90=)
NM_001972.4(ELANE):c.282C>T (p.Pro94=)
NM_001972.4(ELANE):c.300C>T (p.Ala100=) rs200002231
NM_001972.4(ELANE):c.315C>T (p.Phe105=)
NM_001972.4(ELANE):c.324C>T (p.Gly108=) rs2145145223
NM_001972.4(ELANE):c.336A>G (p.Val112=)
NM_001972.4(ELANE):c.354C>T (p.Ile118=)
NM_001972.4(ELANE):c.366+13G>C
NM_001972.4(ELANE):c.366+17_366+21del rs1220139184
NM_001972.4(ELANE):c.366+18G>A
NM_001972.4(ELANE):c.366+7C>T rs1258334813
NM_001972.4(ELANE):c.366+8C>T rs752811125
NM_001972.4(ELANE):c.367-10_367-9dup rs750610201
NM_001972.4(ELANE):c.367-11C>T rs2145148374
NM_001972.4(ELANE):c.367-12C>T
NM_001972.4(ELANE):c.367-13C>T
NM_001972.4(ELANE):c.367-8C>T rs200752339
NM_001972.4(ELANE):c.36C>A (p.Leu12=) rs751186012
NM_001972.4(ELANE):c.36C>G (p.Leu12=)
NM_001972.4(ELANE):c.405G>T (p.Val135=)
NM_001972.4(ELANE):c.435G>C (p.Leu145=) rs992902449
NM_001972.4(ELANE):c.453C>T (p.Cys151=) rs1328150231
NM_001972.4(ELANE):c.454C>T (p.Leu152=)
NM_001972.4(ELANE):c.45C>G (p.Val15=) rs1210157302
NM_001972.4(ELANE):c.498C>T (p.Ala166=) rs2145148773
NM_001972.4(ELANE):c.516C>G (p.Leu172=)
NM_001972.4(ELANE):c.51G>T (p.Pro17=) rs1289067999
NM_001972.4(ELANE):c.525G>A (p.Thr175=)
NM_001972.4(ELANE):c.525G>T (p.Thr175=)
NM_001972.4(ELANE):c.534G>T (p.Thr178=) rs1036286591
NM_001972.4(ELANE):c.537C>T (p.Ser179=)
NM_001972.4(ELANE):c.540C>G (p.Leu180=) rs897624968
NM_001972.4(ELANE):c.588C>T (p.Gly196=)
NM_001972.4(ELANE):c.597+10C>A rs201460728
NM_001972.4(ELANE):c.597+14G>A
NM_001972.4(ELANE):c.597+17T>G
NM_001972.4(ELANE):c.597+19C>G
NM_001972.4(ELANE):c.597+20C>T rs879254187
NM_001972.4(ELANE):c.598-17del
NM_001972.4(ELANE):c.598-8C>T rs778083470
NM_001972.4(ELANE):c.618G>A (p.Leu206=)
NM_001972.4(ELANE):c.624C>T (p.Cys208=)
NM_001972.4(ELANE):c.636C>A (p.Ile212=)
NM_001972.4(ELANE):c.639C>T (p.His213=) rs199532353
NM_001972.4(ELANE):c.648C>T (p.Ala216=)
NM_001972.4(ELANE):c.66G>A (p.Gly22=) rs748560924
NM_001972.4(ELANE):c.67+20C>T rs1370369907
NM_001972.4(ELANE):c.67+7T>A
NM_001972.4(ELANE):c.67+7T>C
NM_001972.4(ELANE):c.68-14C>T
NM_001972.4(ELANE):c.68-20C>T
NM_001972.4(ELANE):c.68-5C>A
NM_001972.4(ELANE):c.693C>G (p.Ala231=)
NM_001972.4(ELANE):c.735C>T (p.Ile245=)
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) rs201224216
NM_001972.4(ELANE):c.768C>T (p.His256=) rs199932636
NM_001972.4(ELANE):c.780G>A (p.Pro260=)
NM_001972.4(ELANE):c.786G>C (p.Pro262=) rs762273987
NM_001972.4(ELANE):c.789C>T (p.Ala263=) rs201238919
NM_001972.4(ELANE):c.81C>T (p.Ala27=) rs2145143896
NM_001972.4(ELANE):c.96G>A (p.Gly32=)
NM_003136.4(SRP54):c.1008T>A (p.Phe336Leu)
NM_003467.3(CXCR4):c.1008A>G (p.Gly336=)
NM_003467.3(CXCR4):c.1026T>C (p.Thr342=) rs2104915514
NM_003467.3(CXCR4):c.1032T>C (p.Ser344=) rs758871604
NM_003467.3(CXCR4):c.15+7C>T rs2104922411
NM_003467.3(CXCR4):c.15+9A>C rs2104922408
NM_003467.3(CXCR4):c.165C>A (p.Gly55=)
NM_003467.3(CXCR4):c.228C>T (p.Tyr76=)
NM_003467.3(CXCR4):c.267C>T (p.Ile89=)
NM_003467.3(CXCR4):c.273T>C (p.Leu91=) rs1025484081
NM_003467.3(CXCR4):c.307T>C (p.Tyr103His)
NM_003467.3(CXCR4):c.30T>C (p.Asp10=) rs1245012855
NM_003467.3(CXCR4):c.342C>A (p.Val114=)
NM_003467.3(CXCR4):c.363C>T (p.Tyr121=)
NM_003467.3(CXCR4):c.39C>T (p.Thr13=)
NM_003467.3(CXCR4):c.402C>A (p.Arg134=) rs2104917808
NM_003467.3(CXCR4):c.438G>A (p.Arg146=)
NM_003467.3(CXCR4):c.444G>A (p.Arg148=)
NM_003467.3(CXCR4):c.453G>A (p.Leu151=)
NM_003467.3(CXCR4):c.501G>A (p.Leu167=)
NM_003467.3(CXCR4):c.504T>A (p.Thr168=)
NM_003467.3(CXCR4):c.549A>G (p.Arg183=)
NM_003467.3(CXCR4):c.552T>C (p.Tyr184=)
NM_003467.3(CXCR4):c.624T>C (p.Leu208=)
NM_003467.3(CXCR4):c.660C>T (p.Cys220=) rs2104916277
NM_003467.3(CXCR4):c.747C>T (p.Phe249=) rs779760942
NM_003467.3(CXCR4):c.795C>T (p.Ile265=)
NM_003467.3(CXCR4):c.798C>T (p.Leu266=)
NM_003467.3(CXCR4):c.7G>T (p.Gly3Trp)
NM_003467.3(CXCR4):c.843C>T (p.His281=)
NM_003467.3(CXCR4):c.862G>A (p.Glu288Lys)
NM_003467.3(CXCR4):c.870A>G (p.Leu290=) rs1573613626
NM_003467.3(CXCR4):c.912C>T (p.Phe304=)
NM_003467.3(CXCR4):c.933C>G (p.Thr311=)
NM_003467.3(CXCR4):c.957T>G (p.Ser319=)
NM_003467.3(CXCR4):c.984C>A (p.Ile328=)
NM_003664.5(AP3B1):c.1040+17T>G
NM_003664.5(AP3B1):c.1041-15T>A rs2112402058
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
NM_003664.5(AP3B1):c.1095+17C>G
NM_003664.5(AP3B1):c.1095+20G>T
NM_003664.5(AP3B1):c.1095+9G>A
NM_003664.5(AP3B1):c.1096-16T>C
NM_003664.5(AP3B1):c.1096-7A>T rs2112401625
NM_003664.5(AP3B1):c.1096-9G>A
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
NM_003664.5(AP3B1):c.1167+11T>C rs2112401362
NM_003664.5(AP3B1):c.1167+8T>C
NM_003664.5(AP3B1):c.1168-12_1168-8del
NM_003664.5(AP3B1):c.1168-4A>G
NM_003664.5(AP3B1):c.1168-7A>G rs780180977
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=) rs768390608
NM_003664.5(AP3B1):c.1230+10C>T rs1580431334
NM_003664.5(AP3B1):c.1230+12G>A
NM_003664.5(AP3B1):c.1230+13T>C
NM_003664.5(AP3B1):c.1231-9A>G
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
NM_003664.5(AP3B1):c.128+20T>C
NM_003664.5(AP3B1):c.128+8G>A
NM_003664.5(AP3B1):c.129-14C>T rs904956491
NM_003664.5(AP3B1):c.129-14_129-10del rs982597895
NM_003664.5(AP3B1):c.129-14_129-12del
NM_003664.5(AP3B1):c.129-19T>C
NM_003664.5(AP3B1):c.129-9_129-8del rs2112562563
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
NM_003664.5(AP3B1):c.1363+10C>T rs2112370696
NM_003664.5(AP3B1):c.1364-15T>G
NM_003664.5(AP3B1):c.1364-4del rs1188997693
NM_003664.5(AP3B1):c.1473+15A>C
NM_003664.5(AP3B1):c.1474-18A>T
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=) rs2112327078
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=) rs200769344
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
NM_003664.5(AP3B1):c.1651-11T>C
NM_003664.5(AP3B1):c.1651-14dup rs1333771177
NM_003664.5(AP3B1):c.1651-9T>C rs2112301377
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser) rs149263390
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
NM_003664.5(AP3B1):c.1838-13C>G
NM_003664.5(AP3B1):c.1838-16T>C
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
NM_003664.5(AP3B1):c.1968+8del rs2112298486
NM_003664.5(AP3B1):c.1969-17T>C
NM_003664.5(AP3B1):c.1969-20T>A rs1394988514
NM_003664.5(AP3B1):c.1969-20T>C rs1394988514
NM_003664.5(AP3B1):c.2001G>A (p.Lys667=)
NM_003664.5(AP3B1):c.2034A>G (p.Glu678=) rs766320781
NM_003664.5(AP3B1):c.204+14T>A
NM_003664.5(AP3B1):c.205-10del
NM_003664.5(AP3B1):c.205-12T>C
NM_003664.5(AP3B1):c.205-20C>T
NM_003664.5(AP3B1):c.2077+18T>C
NM_003664.5(AP3B1):c.2078-11C>T
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=) rs200618231
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=) rs2112260185
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
NM_003664.5(AP3B1):c.2250-6G>A
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=) rs920648897
NM_003664.5(AP3B1):c.2397+7del
NM_003664.5(AP3B1):c.2398-12del
NM_003664.5(AP3B1):c.2398-16A>G
NM_003664.5(AP3B1):c.2398-18A>G
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=) rs2112233233
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
NM_003664.5(AP3B1):c.2470+9dup
NM_003664.5(AP3B1):c.2471-16G>C
NM_003664.5(AP3B1):c.2471-20A>G
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
NM_003664.5(AP3B1):c.2577+9T>C
NM_003664.5(AP3B1):c.2578-7G>A
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=) rs770455413
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.5(AP3B1):c.2769A>G (p.Lys923=) rs201179527
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
NM_003664.5(AP3B1):c.279+18A>G
NM_003664.5(AP3B1):c.2793T>C (p.His931=) rs2112100041
NM_003664.5(AP3B1):c.280-14_280-13dup rs5868908
NM_003664.5(AP3B1):c.280-16G>T
NM_003664.5(AP3B1):c.280-5A>T
NM_003664.5(AP3B1):c.280-6T>A
NM_003664.5(AP3B1):c.2809+15T>C
NM_003664.5(AP3B1):c.2809+20T>G rs2112099938
NM_003664.5(AP3B1):c.2810-10T>C
NM_003664.5(AP3B1):c.2810-7T>A rs1747713195
NM_003664.5(AP3B1):c.2810-9A>G
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=) rs912620993
NM_003664.5(AP3B1):c.2894+10A>G
NM_003664.5(AP3B1):c.2895-12G>T
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
NM_003664.5(AP3B1):c.2993-12T>C
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=) rs1561354415
NM_003664.5(AP3B1):c.3131+18C>T
NM_003664.5(AP3B1):c.3131+19G>C rs769957838
NM_003664.5(AP3B1):c.3132-16C>T
NM_003664.5(AP3B1):c.3132-5T>C rs2112028477
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=) rs748447113
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=) rs751258161
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=) rs1192574805
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
NM_003664.5(AP3B1):c.376-11A>C
NM_003664.5(AP3B1):c.376-13G>A rs1185982935
NM_003664.5(AP3B1):c.39A>G (p.Gly13=) rs1488407842
NM_003664.5(AP3B1):c.513C>G (p.Ala171=) rs2112494604
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
NM_003664.5(AP3B1):c.536+8C>A
NM_003664.5(AP3B1):c.604-17A>G
NM_003664.5(AP3B1):c.63T>C (p.Gly21=) rs776252237
NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
NM_003664.5(AP3B1):c.702G>T (p.Val234=) rs1745952689
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
NM_003664.5(AP3B1):c.738C>T (p.His246=) rs912124016
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
NM_003664.5(AP3B1):c.786+15G>A
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
NM_003664.5(AP3B1):c.894A>G (p.Arg298=) rs1580453466
NM_003664.5(AP3B1):c.915G>A (p.Lys305=) rs751927249
NM_003664.5(AP3B1):c.942+17A>T
NM_003664.5(AP3B1):c.942+8A>G
NM_003664.5(AP3B1):c.943-9A>G rs776758618
NM_003664.5(AP3B1):c.957T>G (p.Val319=) rs2112405584
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
NM_003664.5(AP3B1):c.975C>T (p.His325=) rs2112405548
NM_004284.6(CHD1L):c.1954G>A (p.Ala652Thr) rs2102907683
NM_005263.5(GFI1):c.-100+686C>A rs1018517928
NM_005263.5(GFI1):c.1071A>G (p.Lys357=)
NM_005263.5(GFI1):c.108C>T (p.Ser36=)
NM_005263.5(GFI1):c.1091-16C>G
NM_005263.5(GFI1):c.1091-19C>T
NM_005263.5(GFI1):c.1098G>A (p.Lys366=)
NM_005263.5(GFI1):c.115+16G>C
NM_005263.5(GFI1):c.115+17G>A
NM_005263.5(GFI1):c.115+8G>A rs774875013
NM_005263.5(GFI1):c.116-14C>T
NM_005263.5(GFI1):c.116-15G>C
NM_005263.5(GFI1):c.1194C>T (p.Cys398=) rs1348982767
NM_005263.5(GFI1):c.1209G>A (p.Lys403=)
NM_005263.5(GFI1):c.123T>G (p.Thr41=)
NM_005263.5(GFI1):c.1245G>T (p.Arg415=) rs376151566
NM_005263.5(GFI1):c.1257T>C (p.His419=)
NM_005263.5(GFI1):c.141G>A (p.Ala47=)
NM_005263.5(GFI1):c.171C>G (p.Pro57=) rs200099018
NM_005263.5(GFI1):c.210A>G (p.Ala70=)
NM_005263.5(GFI1):c.276C>T (p.Pro92=) rs778939406
NM_005263.5(GFI1):c.298+12C>G
NM_005263.5(GFI1):c.298+19C>T
NM_005263.5(GFI1):c.299-12G>C rs962841876
NM_005263.5(GFI1):c.299-19T>C rs867973488
NM_005263.5(GFI1):c.30G>A (p.Lys10=)
NM_005263.5(GFI1):c.321A>G (p.Pro107=)
NM_005263.5(GFI1):c.336C>T (p.Ala112=)
NM_005263.5(GFI1):c.351G>A (p.Leu117=) rs2101573590
NM_005263.5(GFI1):c.426T>C (p.Cys142=)
NM_005263.5(GFI1):c.451C>T (p.Leu151=) rs2101573018
NM_005263.5(GFI1):c.459C>T (p.Leu153=)
NM_005263.5(GFI1):c.477G>A (p.Pro159=) rs1249429892
NM_005263.5(GFI1):c.492G>A (p.Pro164=)
NM_005263.5(GFI1):c.492G>T (p.Pro164=)
NM_005263.5(GFI1):c.514C>A (p.Arg172=) rs1571216920
NM_005263.5(GFI1):c.522C>G (p.Ala174=)
NM_005263.5(GFI1):c.531G>A (p.Ala177=)
NM_005263.5(GFI1):c.538G>A (p.Gly180Arg) rs529448705
NM_005263.5(GFI1):c.558C>T (p.Ser186=) rs2101572104
NM_005263.5(GFI1):c.57C>A (p.Arg19=) rs2101582509
NM_005263.5(GFI1):c.57C>T (p.Arg19=)
NM_005263.5(GFI1):c.669C>G (p.Pro223=) rs747582787
NM_005263.5(GFI1):c.675T>C (p.Arg225=)
NM_005263.5(GFI1):c.702C>T (p.Gly234=)
NM_005263.5(GFI1):c.717G>C (p.Val239=) rs2101570871
NM_005263.5(GFI1):c.723G>C (p.Ser241=)
NM_005263.5(GFI1):c.729G>A (p.Leu243=) rs1658186951
NM_005263.5(GFI1):c.730C>T (p.Leu244=)
NM_005263.5(GFI1):c.786+12G>A
NM_005263.5(GFI1):c.787-5C>T rs1156763305
NM_005263.5(GFI1):c.822G>A (p.Val274=)
NM_005263.5(GFI1):c.924+13C>G
NM_005263.5(GFI1):c.924+8del
NM_005263.5(GFI1):c.924+9G>A
NM_005263.5(GFI1):c.924+9G>T rs1180814416
NM_005263.5(GFI1):c.925-40CT[11] 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[19] rs35896485
NM_005263.5(GFI1):c.925-40CT[25] rs35896485
NM_005263.5(GFI1):c.925-40CT[28] rs35896485
NM_005263.5(GFI1):c.925-40CT[29]
NM_005263.5(GFI1):c.925-40CT[30] rs35896485
NM_005263.5(GFI1):c.925-40CT[31] rs35896485
NM_005263.5(GFI1):c.925-40CT[32] rs35896485
NM_005263.5(GFI1):c.925-40CT[34] rs35896485
NM_005263.5(GFI1):c.925-40CT[8] rs35896485
NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA rs1553162639
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT rs766365921
NM_005263.5(GFI1):c.925-9_925-8insTCTCTCTA rs1553162640
NM_005263.5(GFI1):c.942T>C (p.Cys314=)
NM_005263.5(GFI1):c.979C>T (p.Leu327=)
NM_005263.5(GFI1):c.99G>C (p.Pro33=)
NM_006118.4(HAX1):c.-53del rs373592376
NM_006118.4(HAX1):c.105_107del (p.Glu40del) rs752101273
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.108A>G (p.Glu36=) rs11556342
NM_006118.4(HAX1):c.123G>C (p.Gly41=) rs1057521590
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
NM_006118.4(HAX1):c.162T>C (p.Pro54=) rs1684862702
NM_006118.4(HAX1):c.168C>T (p.His56=) rs756371972
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
NM_006118.4(HAX1):c.171C>T (p.Pro57=)
NM_006118.4(HAX1):c.174T>A (p.Pro58=) rs757349543
NM_006118.4(HAX1):c.189C>T (p.Phe63=)
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.18C>T (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.216G>C (p.Gly72=)
NM_006118.4(HAX1):c.21C>T (p.Phe7=) rs2149138533
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
NM_006118.4(HAX1):c.246T>C (p.Asp82=) rs2149139825
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
NM_006118.4(HAX1):c.276C>T (p.Phe92=) rs1394401898
NM_006118.4(HAX1):c.279C>T (p.Ser93=) rs1684868690
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
NM_006118.4(HAX1):c.288G>A (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.288G>C (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.30T>C (p.Phe10=) rs2149138547
NM_006118.4(HAX1):c.316+10T>G rs2149139872
NM_006118.4(HAX1):c.316+12dup rs1278748171
NM_006118.4(HAX1):c.316+17A>G
NM_006118.4(HAX1):c.316+17_316+28del rs1484850337
NM_006118.4(HAX1):c.317-17C>G
NM_006118.4(HAX1):c.317-17C>T
NM_006118.4(HAX1):c.317-19A>C
NM_006118.4(HAX1):c.317-19A>G
NM_006118.4(HAX1):c.363G>A (p.Glu121=) rs2149139958
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
NM_006118.4(HAX1):c.396T>C (p.Tyr132=) rs2149139988
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
NM_006118.4(HAX1):c.414C>T (p.Pro138=) rs1572018842
NM_006118.4(HAX1):c.420C>A (p.Ile140=) rs2149139999
NM_006118.4(HAX1):c.426G>A (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.426G>C (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
NM_006118.4(HAX1):c.456A>G (p.Glu152=) rs2149140027
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
NM_006118.4(HAX1):c.462C>A (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.462C>G (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.471A>G (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.471A>T (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.486C>T (p.Ser162=) rs2149140052
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
NM_006118.4(HAX1):c.501T>C (p.His167=) rs2149140060
NM_006118.4(HAX1):c.504+10C>A
NM_006118.4(HAX1):c.504+10C>T
NM_006118.4(HAX1):c.504+12A>C
NM_006118.4(HAX1):c.504+12A>G
NM_006118.4(HAX1):c.504+12A>T
NM_006118.4(HAX1):c.504+19C>T
NM_006118.4(HAX1):c.504+9C>G rs2149140073
NM_006118.4(HAX1):c.505-13G>T
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
NM_006118.4(HAX1):c.516A>G (p.Val172=) rs1684900369
NM_006118.4(HAX1):c.528C>T (p.Asp176=)
NM_006118.4(HAX1):c.53+13C>T rs759011018
NM_006118.4(HAX1):c.53+16G>A
NM_006118.4(HAX1):c.53+19C>T
NM_006118.4(HAX1):c.53+3GA[3]
NM_006118.4(HAX1):c.53+6_53+7insT
NM_006118.4(HAX1):c.53+7G>A rs2149138580
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
NM_006118.4(HAX1):c.54-12C>T
NM_006118.4(HAX1):c.54-14G>A
NM_006118.4(HAX1):c.54-15T>G
NM_006118.4(HAX1):c.54-20C>G
NM_006118.4(HAX1):c.54-4T>G rs908920404
NM_006118.4(HAX1):c.54-5C>T rs1357333154
NM_006118.4(HAX1):c.54-8A>G rs2149139463
NM_006118.4(HAX1):c.543C>A (p.Thr181=)
NM_006118.4(HAX1):c.552C>T (p.Asp184=) rs2149140492
NM_006118.4(HAX1):c.556+11A>G
NM_006118.4(HAX1):c.556+15A>C
NM_006118.4(HAX1):c.556+15A>G
NM_006118.4(HAX1):c.556+17G>T rs2149140505
NM_006118.4(HAX1):c.556+9G>A
NM_006118.4(HAX1):c.557-11T>C
NM_006118.4(HAX1):c.557-12C>G rs1553289863
NM_006118.4(HAX1):c.557-16C>T
NM_006118.4(HAX1):c.557-18A>G
NM_006118.4(HAX1):c.557-5T>C
NM_006118.4(HAX1):c.557-7C>T
NM_006118.4(HAX1):c.557-8T>C rs1684904629
NM_006118.4(HAX1):c.557-9C>A rs1684904587
NM_006118.4(HAX1):c.567C>T (p.Ser189=) rs2149140587
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
NM_006118.4(HAX1):c.606C>G (p.Pro202=) rs1684905836
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
NM_006118.4(HAX1):c.612C>G (p.Pro204=) rs755648319
NM_006118.4(HAX1):c.645G>A (p.Lys215=) rs2149140634
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
NM_006118.4(HAX1):c.663+14_663+17del rs2149140652
NM_006118.4(HAX1):c.663+20dup
NM_006118.4(HAX1):c.664-13C>T
NM_006118.4(HAX1):c.664-4G>A
NM_006118.4(HAX1):c.664-5T>G
NM_006118.4(HAX1):c.664-6T>C rs2149140688
NM_006118.4(HAX1):c.664-8C>G
NM_006118.4(HAX1):c.664-8C>T
NM_006118.4(HAX1):c.666A>T (p.Ile222=) rs2149140695
NM_006118.4(HAX1):c.678C>T (p.Arg226=) rs1684911540
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
NM_006118.4(HAX1):c.684T>G (p.Thr228=) rs2149140709
NM_006118.4(HAX1):c.690G>A (p.Val230=)
NM_006118.4(HAX1):c.699G>A (p.Glu233=) rs1398388092
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
NM_006118.4(HAX1):c.702C>T (p.Gly234=) rs2149140719
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.717A>G (p.Thr239=) rs911542597
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
NM_006118.4(HAX1):c.754+12G>A rs2149140759
NM_006118.4(HAX1):c.754+16A>G rs370265383
NM_006118.4(HAX1):c.754+16_754+17del
NM_006118.4(HAX1):c.754+17A>G rs2149140768
NM_006118.4(HAX1):c.754+18G>T
NM_006118.4(HAX1):c.754+19G>C
NM_006118.4(HAX1):c.754+8A>C rs766977977
NM_006118.4(HAX1):c.755-12T>A rs2149140818
NM_006118.4(HAX1):c.755-13C>T
NM_006118.4(HAX1):c.755-17A>G
NM_006118.4(HAX1):c.755-19G>A rs367977880
NM_006118.4(HAX1):c.755-19G>T
NM_006118.4(HAX1):c.755-5C>G
NM_006118.4(HAX1):c.755-5C>T rs2149140820
NM_006118.4(HAX1):c.768A>C (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.768A>G (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.780C>A (p.Ala260=) rs2149140833
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
NM_006118.4(HAX1):c.802C>T (p.Leu268=) rs2149140852
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
NM_006118.4(HAX1):c.96T>C (p.Asp32=) rs2149139550
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
NM_006118.4(HAX1):c.9C>G (p.Leu3=) rs2149138508
NM_006118.4(HAX1):c.9C>T (p.Leu3=) rs2149138508
NM_007259.5(VPS45):c.1005T>A (p.Val335=)
NM_007259.5(VPS45):c.1005T>C (p.Val335=) rs2101538747
NM_007259.5(VPS45):c.1011A>G (p.Glu337=) rs781878634
NM_007259.5(VPS45):c.1021T>C (p.Leu341=)
NM_007259.5(VPS45):c.1041G>A (p.Leu347=) rs2101538873
NM_007259.5(VPS45):c.1042C>T (p.Leu348=) rs2101538885
NM_007259.5(VPS45):c.1074C>T (p.Ala358=)
NM_007259.5(VPS45):c.1092T>C (p.Ser364=)
NM_007259.5(VPS45):c.1098T>C (p.Ala366=)
NM_007259.5(VPS45):c.1104+14G>A
NM_007259.5(VPS45):c.1104+17G>A
NM_007259.5(VPS45):c.1104+19G>A
NM_007259.5(VPS45):c.1104+7C>T rs1571834548
NM_007259.5(VPS45):c.1104+8C>T
NM_007259.5(VPS45):c.1105-10C>T rs2101565432
NM_007259.5(VPS45):c.1105-11T>C
NM_007259.5(VPS45):c.1105-12A>C
NM_007259.5(VPS45):c.1105-12_1105-9del
NM_007259.5(VPS45):c.1105-14C>G
NM_007259.5(VPS45):c.1105-15del
NM_007259.5(VPS45):c.1105-5T>C rs2101565451
NM_007259.5(VPS45):c.1116G>A (p.Arg372=) rs1302292445
NM_007259.5(VPS45):c.1122G>T (p.Leu374=)
NM_007259.5(VPS45):c.1134A>G (p.Lys378=)
NM_007259.5(VPS45):c.1152T>A (p.Ala384=)
NM_007259.5(VPS45):c.1152T>C (p.Ala384=)
NM_007259.5(VPS45):c.1155C>T (p.Ala385=) rs1553801991
NM_007259.5(VPS45):c.1158C>G (p.Arg386=) rs1571849016
NM_007259.5(VPS45):c.1170T>C (p.Leu390=) rs2101565709
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=)
NM_007259.5(VPS45):c.1194C>T (p.His398=)
NM_007259.5(VPS45):c.1200C>T (p.Ser400=)
NM_007259.5(VPS45):c.1203T>C (p.Asn401=)
NM_007259.5(VPS45):c.1212A>G (p.Pro404=) rs2101565926
NM_007259.5(VPS45):c.1218A>T (p.Leu406=)
NM_007259.5(VPS45):c.1233G>A (p.Arg411=) rs2101565990
NM_007259.5(VPS45):c.1242T>A (p.Gly414=)
NM_007259.5(VPS45):c.1242T>G (p.Gly414=)
NM_007259.5(VPS45):c.1263+10T>C
NM_007259.5(VPS45):c.1263+11T>A
NM_007259.5(VPS45):c.1263+11dup
NM_007259.5(VPS45):c.1263+13C>T
NM_007259.5(VPS45):c.1263+14A>T
NM_007259.5(VPS45):c.1263+16A>G
NM_007259.5(VPS45):c.1263+17T>A
NM_007259.5(VPS45):c.1263+7A>G
NM_007259.5(VPS45):c.1264-13del
NM_007259.5(VPS45):c.1264-14C>T
NM_007259.5(VPS45):c.1264-9_1264-6del
NM_007259.5(VPS45):c.1266C>G (p.Leu422=)
NM_007259.5(VPS45):c.1266C>T (p.Leu422=) rs782520287
NM_007259.5(VPS45):c.1269G>A (p.Val423=)
NM_007259.5(VPS45):c.1299A>C (p.Arg433=) rs2101566674
NM_007259.5(VPS45):c.133C>T (p.Leu45=) rs2101476530
NM_007259.5(VPS45):c.1341T>A (p.Ala447=) rs2101566942
NM_007259.5(VPS45):c.1347C>A (p.Thr449=) rs2101566957
NM_007259.5(VPS45):c.1347C>T (p.Thr449=)
NM_007259.5(VPS45):c.1353A>G (p.Gln451=)
NM_007259.5(VPS45):c.135A>G (p.Leu45=) rs782284311
NM_007259.5(VPS45):c.1368G>A (p.Leu456=)
NM_007259.5(VPS45):c.1371+10TC[3] rs2101567083
NM_007259.5(VPS45):c.1371+11C>G
NM_007259.5(VPS45):c.1371+13C>G
NM_007259.5(VPS45):c.1371+14C>T
NM_007259.5(VPS45):c.1371+14_1371+16del
NM_007259.5(VPS45):c.1371+15T>C
NM_007259.5(VPS45):c.1371+16C>G
NM_007259.5(VPS45):c.1371+16C>T
NM_007259.5(VPS45):c.1371+18A>G
NM_007259.5(VPS45):c.1371+9A>G rs368568806
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.1372-10C>T
NM_007259.5(VPS45):c.1372-20A>G
NM_007259.5(VPS45):c.1372-4T>C
NM_007259.5(VPS45):c.1372-6T>C
NM_007259.5(VPS45):c.1372-7G>C rs2101570024
NM_007259.5(VPS45):c.1372-8del
NM_007259.5(VPS45):c.1372-9C>G
NM_007259.5(VPS45):c.1374A>G (p.Gly458=)
NM_007259.5(VPS45):c.1386A>G (p.Val462=) rs959109809
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)
NM_007259.5(VPS45):c.1392A>T (p.Thr464=)
NM_007259.5(VPS45):c.1410A>G (p.Leu470=) rs2101570132
NM_007259.5(VPS45):c.1419C>G (p.Thr473=)
NM_007259.5(VPS45):c.1419C>T (p.Thr473=)
NM_007259.5(VPS45):c.1443G>A (p.Arg481=)
NM_007259.5(VPS45):c.1455C>T (p.Asn485=) rs1656463069
NM_007259.5(VPS45):c.1458A>C (p.Leu486=)
NM_007259.5(VPS45):c.1476C>A (p.Pro492=)
NM_007259.5(VPS45):c.1476C>G (p.Pro492=) rs1253982752
NM_007259.5(VPS45):c.1479C>T (p.Ser493=) rs2101570323
NM_007259.5(VPS45):c.1482A>G (p.Thr494=) rs782409875
NM_007259.5(VPS45):c.1491C>T (p.Asp497=) rs782007834
NM_007259.5(VPS45):c.1493+12A>G rs587746538
NM_007259.5(VPS45):c.1493+14G>T
NM_007259.5(VPS45):c.1493+18T>C
NM_007259.5(VPS45):c.1494-14C>A
NM_007259.5(VPS45):c.1494-14C>T
NM_007259.5(VPS45):c.1494-15del
NM_007259.5(VPS45):c.1494-17A>T
NM_007259.5(VPS45):c.1494-5T>C rs781920624
NM_007259.5(VPS45):c.1494-6T>C
NM_007259.5(VPS45):c.1500G>A (p.Gln500=)
NM_007259.5(VPS45):c.1509T>A (p.Ile503=) rs2101608863
NM_007259.5(VPS45):c.1512G>A (p.Val504=)
NM_007259.5(VPS45):c.1515T>C (p.Phe505=)
NM_007259.5(VPS45):c.1518A>G (p.Val506=)
NM_007259.5(VPS45):c.1518A>T (p.Val506=)
NM_007259.5(VPS45):c.1530C>T (p.Ala510=)
NM_007259.5(VPS45):c.1533C>T (p.Thr511=)
NM_007259.5(VPS45):c.1551A>C (p.Thr517=)
NM_007259.5(VPS45):c.1560C>T (p.Asn520=) rs2101608985
NM_007259.5(VPS45):c.1572C>T (p.Thr524=) rs782816408
NM_007259.5(VPS45):c.1584G>A (p.Val528=) rs2101609056
NM_007259.5(VPS45):c.1594C>T (p.Leu532=)
NM_007259.5(VPS45):c.1596G>A (p.Leu532=)
NM_007259.5(VPS45):c.159A>G (p.Glu53=)
NM_007259.5(VPS45):c.1605C>A (p.Thr535=) rs782478918
NM_007259.5(VPS45):c.1614C>T (p.His538=)
NM_007259.5(VPS45):c.1623A>G (p.Lys541=) rs1553807022
NM_007259.5(VPS45):c.1625+15T>G
NM_007259.5(VPS45):c.1626-17C>T
NM_007259.5(VPS45):c.1626-18C>T
NM_007259.5(VPS45):c.1626-4T>C
NM_007259.5(VPS45):c.1626-4T>G rs1327671540
NM_007259.5(VPS45):c.1626-5A>T rs2101672275
NM_007259.5(VPS45):c.1626-8C>T
NM_007259.5(VPS45):c.1626-8del rs1571931824
NM_007259.5(VPS45):c.1641T>C (p.Val547=) rs1355098112
NM_007259.5(VPS45):c.1653A>G (p.Gly551=) rs1553816156
NM_007259.5(VPS45):c.1653A>T (p.Gly551=)
NM_007259.5(VPS45):c.1656G>T (p.Leu552=) rs1571931928
NM_007259.5(VPS45):c.1659C>T (p.His553=)
NM_007259.5(VPS45):c.1689A>T (p.Thr563=) rs782289649
NM_007259.5(VPS45):c.168T>C (p.Asp56=)
NM_007259.5(VPS45):c.1701G>C (p.Ala567=)
NM_007259.5(VPS45):c.1701G>T (p.Ala567=) rs377365764
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=)
NM_007259.5(VPS45):c.1712G>A (p.Ter571=) rs782075318
NM_007259.5(VPS45):c.178C>A (p.Arg60=)
NM_007259.5(VPS45):c.186C>A (p.Ile62=) rs1553796358
NM_007259.5(VPS45):c.204A>G (p.Ala68=) rs1553796373
NM_007259.5(VPS45):c.219A>C (p.Arg73=)
NM_007259.5(VPS45):c.228+12dup
NM_007259.5(VPS45):c.228+17G>A
NM_007259.5(VPS45):c.228+19_228+22dup
NM_007259.5(VPS45):c.228+7C>A
NM_007259.5(VPS45):c.228+7C>T rs782018422
NM_007259.5(VPS45):c.228+9T>C rs1654867997
NM_007259.5(VPS45):c.229-10C>A rs781990380
NM_007259.5(VPS45):c.229-6T>C rs2101495459
NM_007259.5(VPS45):c.246T>A (p.Ile82=)
NM_007259.5(VPS45):c.246T>C (p.Ile82=) rs62622370
NM_007259.5(VPS45):c.258C>G (p.Leu86=)
NM_007259.5(VPS45):c.259C>A (p.Arg87=) rs782463106
NM_007259.5(VPS45):c.270A>G (p.Lys90=)
NM_007259.5(VPS45):c.276T>C (p.Thr92=) rs2101495807
NM_007259.5(VPS45):c.27G>A (p.Gln9=) rs1654813865
NM_007259.5(VPS45):c.285C>T (p.Phe95=) rs140400945
NM_007259.5(VPS45):c.289+15T>G
NM_007259.5(VPS45):c.289+16C>T
NM_007259.5(VPS45):c.289+19T>C
NM_007259.5(VPS45):c.290-12C>G
NM_007259.5(VPS45):c.290-12C>T
NM_007259.5(VPS45):c.290-18C>G
NM_007259.5(VPS45):c.290-18C>T
NM_007259.5(VPS45):c.290-19C>T
NM_007259.5(VPS45):c.290-20C>A
NM_007259.5(VPS45):c.294C>T (p.Phe98=)
NM_007259.5(VPS45):c.297T>C (p.Ser99=)
NM_007259.5(VPS45):c.300T>C (p.Asn100=)
NM_007259.5(VPS45):c.303G>T (p.Val101=)
NM_007259.5(VPS45):c.321G>A (p.Val107=)
NM_007259.5(VPS45):c.324G>A (p.Lys108=) rs2101515532
NM_007259.5(VPS45):c.327A>G (p.Ser109=)
NM_007259.5(VPS45):c.328T>C (p.Leu110=) rs2101515546
NM_007259.5(VPS45):c.336A>G (p.Glu112=) rs1571822136
NM_007259.5(VPS45):c.33T>C (p.Ile11=)
NM_007259.5(VPS45):c.348G>A (p.Gln116=)
NM_007259.5(VPS45):c.357G>A (p.Val119=) rs2101515731
NM_007259.5(VPS45):c.363G>A (p.Glu121=)
NM_007259.5(VPS45):c.369+10T>C
NM_007259.5(VPS45):c.369+20A>G
NM_007259.5(VPS45):c.369+7A>G rs2101515804
NM_007259.5(VPS45):c.369+9A>G
NM_007259.5(VPS45):c.369+9_369+10del rs2101515817
NM_007259.5(VPS45):c.370-15G>A
NM_007259.5(VPS45):c.370-18T>C
NM_007259.5(VPS45):c.370-9T>C rs2101518189
NM_007259.5(VPS45):c.372A>G (p.Glu124=) rs2101518267
NM_007259.5(VPS45):c.399C>T (p.Asn133=) rs2101518426
NM_007259.5(VPS45):c.402A>G (p.Pro134=)
NM_007259.5(VPS45):c.405T>C (p.His135=)
NM_007259.5(VPS45):c.406T>C (p.Leu136=) rs2101518468
NM_007259.5(VPS45):c.414C>T (p.Ser138=)
NM_007259.5(VPS45):c.429T>C (p.Gly143=)
NM_007259.5(VPS45):c.435C>T (p.Cys145=) rs2101518656
NM_007259.5(VPS45):c.438+13A>G
NM_007259.5(VPS45):c.438+14G>A
NM_007259.5(VPS45):c.438+18T>C
NM_007259.5(VPS45):c.438+7A>G rs2101518689
NM_007259.5(VPS45):c.438+9G>A
NM_007259.5(VPS45):c.439-6A>T rs1272899698
NM_007259.5(VPS45):c.439-7C>T
NM_007259.5(VPS45):c.447T>C (p.Asn149=) rs1553798264
NM_007259.5(VPS45):c.456A>G (p.Pro152=) rs2101519305
NM_007259.5(VPS45):c.465A>G (p.Leu155=) rs2101519368
NM_007259.5(VPS45):c.468T>C (p.Ser156=)
NM_007259.5(VPS45):c.468T>G (p.Ser156=) rs2101519395
NM_007259.5(VPS45):c.474A>T (p.Thr158=) rs2101519449
NM_007259.5(VPS45):c.489A>G (p.Thr163=)
NM_007259.5(VPS45):c.513G>A (p.Lys171=)
NM_007259.5(VPS45):c.516T>C (p.Cys172=)
NM_007259.5(VPS45):c.525T>A (p.Ile175=)
NM_007259.5(VPS45):c.528T>C (p.Arg176=)
NM_007259.5(VPS45):c.531T>C (p.Tyr177=)
NM_007259.5(VPS45):c.537C>G (p.Leu179=)
NM_007259.5(VPS45):c.537C>T (p.Leu179=) rs782397315
NM_007259.5(VPS45):c.540A>T (p.Ser180=)
NM_007259.5(VPS45):c.543A>G (p.Ser181=) rs2101519854
NM_007259.5(VPS45):c.564A>T (p.Ala188=)
NM_007259.5(VPS45):c.573T>A (p.Val191=)
NM_007259.5(VPS45):c.576+12C>T
NM_007259.5(VPS45):c.576+15A>G
NM_007259.5(VPS45):c.576+18C>T
NM_007259.5(VPS45):c.576+20T>C
NM_007259.5(VPS45):c.576+7C>T
NM_007259.5(VPS45):c.576+8A>G rs2101520081
NM_007259.5(VPS45):c.577-13C>G
NM_007259.5(VPS45):c.577-4A>G rs782591820
NM_007259.5(VPS45):c.577-6C>A
NM_007259.5(VPS45):c.577-9C>T rs2101521609
NM_007259.5(VPS45):c.57G>A (p.Gly19=)
NM_007259.5(VPS45):c.582G>A (p.Val194=)
NM_007259.5(VPS45):c.591A>G (p.Lys197=)
NM_007259.5(VPS45):c.597T>C (p.Tyr199=) rs781964920
NM_007259.5(VPS45):c.600A>G (p.Glu200=)
NM_007259.5(VPS45):c.603G>A (p.Leu201=)
NM_007259.5(VPS45):c.609A>G (p.Glu203=)
NM_007259.5(VPS45):c.615T>C (p.Arg205=) rs2101521872
NM_007259.5(VPS45):c.621A>C (p.Thr207=) rs1655474952
NM_007259.5(VPS45):c.634T>C (p.Leu212=)
NM_007259.5(VPS45):c.645T>A (p.Ile215=) rs2101522081
NM_007259.5(VPS45):c.654C>G (p.Arg218=)
NM_007259.5(VPS45):c.663T>C (p.Asp221=) rs2101522140
NM_007259.5(VPS45):c.666C>A (p.Ala222=)
NM_007259.5(VPS45):c.675A>G (p.Pro225=) rs1553798458
NM_007259.5(VPS45):c.684C>T (p.Asn228=) rs937860591
NM_007259.5(VPS45):c.687+19G>T
NM_007259.5(VPS45):c.687+20C>A
NM_007259.5(VPS45):c.687+9C>T
NM_007259.5(VPS45):c.688-16A>G
NM_007259.5(VPS45):c.696T>C (p.Tyr232=)
NM_007259.5(VPS45):c.6C>T (p.Asn2=) rs1571803153
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.708C>G (p.Val236=)
NM_007259.5(VPS45):c.708C>T (p.Val236=)
NM_007259.5(VPS45):c.714A>G (p.Glu238=)
NM_007259.5(VPS45):c.717A>G (p.Leu239=) rs782635202
NM_007259.5(VPS45):c.720A>G (p.Leu240=)
NM_007259.5(VPS45):c.72A>G (p.Val24=) rs2101472739
NM_007259.5(VPS45):c.747T>G (p.Leu249=) rs2101534085
NM_007259.5(VPS45):c.750C>T (p.Ser250=) rs1571831530
NM_007259.5(VPS45):c.783A>G (p.Glu261=) rs1655704399
NM_007259.5(VPS45):c.786G>A (p.Val262=) rs2101534304
NM_007259.5(VPS45):c.790C>T (p.Leu264=)
NM_007259.5(VPS45):c.816T>C (p.Tyr272=) rs782759963
NM_007259.5(VPS45):c.822+14A>T
NM_007259.5(VPS45):c.822+16T>G
NM_007259.5(VPS45):c.822+9T>A rs781898521
NM_007259.5(VPS45):c.822+9T>C
NM_007259.5(VPS45):c.823-11C>T rs1655733894
NM_007259.5(VPS45):c.823-12T>C
NM_007259.5(VPS45):c.823-13T>C
NM_007259.5(VPS45):c.823-20T>C
NM_007259.5(VPS45):c.823-5C>T
NM_007259.5(VPS45):c.823-7T>G rs2101535746
NM_007259.5(VPS45):c.832C>T (p.Leu278=)
NM_007259.5(VPS45):c.852T>A (p.Gly284=)
NM_007259.5(VPS45):c.852T>C (p.Gly284=) rs2101535822
NM_007259.5(VPS45):c.87A>G (p.Lys29=)
NM_007259.5(VPS45):c.888G>A (p.Lys296=) rs1315600520
NM_007259.5(VPS45):c.921A>C (p.Ser307=) rs2101536025
NM_007259.5(VPS45):c.93+10C>G
NM_007259.5(VPS45):c.93+13_93+14dup
NM_007259.5(VPS45):c.93+14T>C
NM_007259.5(VPS45):c.93+16C>T
NM_007259.5(VPS45):c.93+17T>G
NM_007259.5(VPS45):c.93+18C>A
NM_007259.5(VPS45):c.93+19A>T rs2101473009
NM_007259.5(VPS45):c.936+11C>G
NM_007259.5(VPS45):c.936+11C>T
NM_007259.5(VPS45):c.936+12A>G
NM_007259.5(VPS45):c.936+14G>A
NM_007259.5(VPS45):c.936+15T>G
NM_007259.5(VPS45):c.936+16A>G rs2101536193
NM_007259.5(VPS45):c.936+9A>C
NM_007259.5(VPS45):c.937-10C>A rs587634693
NM_007259.5(VPS45):c.937-12T>A
NM_007259.5(VPS45):c.937-8C>T rs2101538592
NM_007259.5(VPS45):c.94-16T>C
NM_007259.5(VPS45):c.94-18A>T
NM_007259.5(VPS45):c.942T>C (p.Phe314=)
NM_007259.5(VPS45):c.948G>A (p.Glu316=)
NM_007259.5(VPS45):c.957A>G (p.Pro319=)
NM_007259.5(VPS45):c.96T>C (p.Thr32=)
NM_007259.5(VPS45):c.993T>C (p.His331=)
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=) rs2133626492
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=)
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=)
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=) rs1554824934
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=)
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=) rs1455372294
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=)
NM_017890.5(VPS13B):c.4236C>A (p.Thr1412=) rs1208581851
NM_017890.5(VPS13B):c.4236C>T (p.Thr1412=) rs1208581851
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=) rs1554825004
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=) rs1183099236
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=) rs2133626942
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
NM_032492.4(JAGN1):c.120G>A (p.Leu40=) rs2082572609
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
NM_032492.4(JAGN1):c.138C>T (p.Val46=) rs528473640
NM_032492.4(JAGN1):c.159T>C (p.Ala53=) rs201196372
NM_032492.4(JAGN1):c.186C>G (p.Leu62=) rs776988033
NM_032492.4(JAGN1):c.264C>T (p.Gly88=)
NM_032492.4(JAGN1):c.279C>T (p.Pro93=) rs1444280254
NM_032492.4(JAGN1):c.327C>G (p.Leu109=)
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
NM_032492.4(JAGN1):c.525C>G (p.Thr175=)
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)
NM_032492.4(JAGN1):c.57C>T (p.His19=) rs2082556963
NM_032492.4(JAGN1):c.78C>T (p.His26=)
NM_032492.4(JAGN1):c.89+15G>T
NM_032492.4(JAGN1):c.90-13C>G
NM_032492.4(JAGN1):c.90-16C>T
NM_032492.4(JAGN1):c.90-18C>G rs371744656
NM_138387.4(G6PC3):c.1014G>A (p.Gln338=)
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=)
NM_138387.4(G6PC3):c.105C>A (p.Pro35=)
NM_138387.4(G6PC3):c.108G>A (p.Lys36=)
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)
NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
NM_138387.4(G6PC3):c.138C>T (p.Ala46=)
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)
NM_138387.4(G6PC3):c.147C>T (p.Ala49=)
NM_138387.4(G6PC3):c.153C>G (p.Arg51=) rs761215881
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)
NM_138387.4(G6PC3):c.171G>A (p.Val57=)
NM_138387.4(G6PC3):c.171G>T (p.Val57=) rs759787635
NM_138387.4(G6PC3):c.192C>T (p.Thr64=) rs780837377
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)
NM_138387.4(G6PC3):c.213C>T (p.Phe71=) rs1392954032
NM_138387.4(G6PC3):c.218+14G>C
NM_138387.4(G6PC3):c.218+16C>T
NM_138387.4(G6PC3):c.218+17del
NM_138387.4(G6PC3):c.218+18T>C
NM_138387.4(G6PC3):c.218+20C>T
NM_138387.4(G6PC3):c.218+8A>G
NM_138387.4(G6PC3):c.218+9G>C
NM_138387.4(G6PC3):c.219-12G>A
NM_138387.4(G6PC3):c.219-12G>T
NM_138387.4(G6PC3):c.219-18G>T
NM_138387.4(G6PC3):c.234C>T (p.Asp78=)
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) rs960728758
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
NM_138387.4(G6PC3):c.325+14A>G
NM_138387.4(G6PC3):c.325+14_325+17del
NM_138387.4(G6PC3):c.325+18T>C
NM_138387.4(G6PC3):c.325+20del
NM_138387.4(G6PC3):c.325+8G>A
NM_138387.4(G6PC3):c.326-19C>T
NM_138387.4(G6PC3):c.326-20G>A
NM_138387.4(G6PC3):c.326-7C>T
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
NM_138387.4(G6PC3):c.384C>G (p.Ala128=)
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
NM_138387.4(G6PC3):c.416+11G>A
NM_138387.4(G6PC3):c.416+13C>A
NM_138387.4(G6PC3):c.416+13C>T
NM_138387.4(G6PC3):c.416+14A>G
NM_138387.4(G6PC3):c.416+17G>A
NM_138387.4(G6PC3):c.416+19C>G
NM_138387.4(G6PC3):c.416+8C>G
NM_138387.4(G6PC3):c.417-11C>G
NM_138387.4(G6PC3):c.417-11C>T
NM_138387.4(G6PC3):c.417-13C>T
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-15C>G
NM_138387.4(G6PC3):c.417-16C>T
NM_138387.4(G6PC3):c.417-18T>G
NM_138387.4(G6PC3):c.417-19T>G
NM_138387.4(G6PC3):c.417-9T>C
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) rs2144134939
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) rs141663645
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) rs2144149561
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
NM_138387.4(G6PC3):c.510C>T (p.His170=) rs2050059834
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
NM_138387.4(G6PC3):c.535+14G>A
NM_138387.4(G6PC3):c.535+14G>C rs756398916
NM_138387.4(G6PC3):c.535+18C>T
NM_138387.4(G6PC3):c.535+19G>A
NM_138387.4(G6PC3):c.535+20G>C
NM_138387.4(G6PC3):c.535+8A>G
NM_138387.4(G6PC3):c.536-11C>T
NM_138387.4(G6PC3):c.536-11_536-7del
NM_138387.4(G6PC3):c.536-14C>T
NM_138387.4(G6PC3):c.536-4C>G rs2144151616
NM_138387.4(G6PC3):c.536-5C>T
NM_138387.4(G6PC3):c.544C>T (p.Leu182=)
NM_138387.4(G6PC3):c.555G>A (p.Leu185=)
NM_138387.4(G6PC3):c.55C>T (p.Leu19=)
NM_138387.4(G6PC3):c.57A>G (p.Leu19=)
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) rs1409898506
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) rs2050074491
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
NM_138387.4(G6PC3):c.678-16C>T
NM_138387.4(G6PC3):c.678-6C>T
NM_138387.4(G6PC3):c.678-8C>A rs753515098
NM_138387.4(G6PC3):c.678-8C>T
NM_138387.4(G6PC3):c.684C>A (p.Ile228=)
NM_138387.4(G6PC3):c.684C>T (p.Ile228=)
NM_138387.4(G6PC3):c.688C>T (p.Leu230=)
NM_138387.4(G6PC3):c.714T>C (p.Pro238=)
NM_138387.4(G6PC3):c.732T>C (p.Asp244=) rs1597911422
NM_138387.4(G6PC3):c.747C>T (p.Ala249=)
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
NM_138387.4(G6PC3):c.798C>T (p.His266=) rs558164927
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) rs2144155706
NM_138387.4(G6PC3):c.81C>G (p.Leu27=)
NM_138387.4(G6PC3):c.81C>T (p.Leu27=) rs1324312988
NM_138387.4(G6PC3):c.837A>G (p.Gly279=)
NM_138387.4(G6PC3):c.855C>T (p.Ala285=)
NM_138387.4(G6PC3):c.861T>A (p.Leu287=)
NM_138387.4(G6PC3):c.861T>C (p.Leu287=)
NM_138387.4(G6PC3):c.865C>T (p.Leu289=)
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
NM_138387.4(G6PC3):c.909C>A (p.Pro303=)
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) rs978510802
NM_138387.4(G6PC3):c.945C>G (p.Leu315=)
NM_138387.4(G6PC3):c.954C>T (p.Thr318=)
NM_138387.4(G6PC3):c.957C>T (p.Leu319=)
NM_138387.4(G6PC3):c.993A>G (p.Ala331=)
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)
NM_152564.5(VPS13B):c.*1212TC[4] rs1258731393
NM_152564.5(VPS13B):c.*250_*252dup rs71274940
NM_152564.5(VPS13B):c.*33_*36dup rs373852425
NM_152564.5(VPS13B):c.*374ATTT[1] rs374440758
NM_152564.5(VPS13B):c.*597_*598dup rs397791669
NM_152564.5(VPS13B):c.10002A>G (p.Thr3334=)
NM_152564.5(VPS13B):c.10008C>T (p.Phe3336=)
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=)
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=)
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=)
NM_152564.5(VPS13B):c.10050C>A (p.Thr3350=)
NM_152564.5(VPS13B):c.10053T>C (p.Asn3351=) rs1393247141
NM_152564.5(VPS13B):c.10056C>T (p.Thr3352=) rs2130902671
NM_152564.5(VPS13B):c.1005A>G (p.Ser335=)
NM_152564.5(VPS13B):c.10061+10A>G
NM_152564.5(VPS13B):c.10061+10A>T
NM_152564.5(VPS13B):c.10061+10_10061+13del rs2130902722
NM_152564.5(VPS13B):c.10061+16T>G
NM_152564.5(VPS13B):c.10061+20C>G
NM_152564.5(VPS13B):c.10061+20C>T
NM_152564.5(VPS13B):c.10062-13C>G
NM_152564.5(VPS13B):c.10062-13C>T rs773907481
NM_152564.5(VPS13B):c.10062-13del
NM_152564.5(VPS13B):c.10062-15C>T
NM_152564.5(VPS13B):c.10062-16T>G
NM_152564.5(VPS13B):c.10062-17G>A
NM_152564.5(VPS13B):c.10062-20C>A
NM_152564.5(VPS13B):c.10062-4C>T rs1217688828
NM_152564.5(VPS13B):c.10062-6_10062-4del
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=) rs61753726
NM_152564.5(VPS13B):c.10095C>T (p.Phe3365=)
NM_152564.5(VPS13B):c.10110C>T (p.Ser3370=) rs755978152
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=)
NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=)
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.10134C>T (p.Thr3378=)
NM_152564.5(VPS13B):c.10137C>T (p.His3379=) rs2130916576
NM_152564.5(VPS13B):c.10149A>T (p.Ser3383=)
NM_152564.5(VPS13B):c.1014T>C (p.Asp338=)
NM_152564.5(VPS13B):c.10152T>C (p.Ala3384=) rs374129601
NM_152564.5(VPS13B):c.10159C>T (p.Leu3387=) rs2130916651
NM_152564.5(VPS13B):c.10170A>C (p.Thr3390=)
NM_152564.5(VPS13B):c.10171C>T (p.Leu3391=) rs2130916698
NM_152564.5(VPS13B):c.10173G>A (p.Leu3391=) rs1588786090
NM_152564.5(VPS13B):c.10194G>A (p.Val3398=)
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=) rs1816400490
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=)
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=)
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=)
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=) rs2130916876
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=)
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=)
NM_152564.5(VPS13B):c.10251T>G (p.Leu3417=) rs1187238292
NM_152564.5(VPS13B):c.10257T>C (p.Cys3419=) rs764214907
NM_152564.5(VPS13B):c.10263G>A (p.Glu3421=)
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=)
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=)
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=)
NM_152564.5(VPS13B):c.10320C>T (p.His3440=)
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=) rs2130917205
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=)
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=) rs575624046
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=)
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=) rs2130917266
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=)
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=)
NM_152564.5(VPS13B):c.10386C>G (p.Leu3462=)
NM_152564.5(VPS13B):c.10389C>A (p.Leu3463=)
NM_152564.5(VPS13B):c.1038G>T (p.Val346=)
NM_152564.5(VPS13B):c.10401A>G (p.Lys3467=)
NM_152564.5(VPS13B):c.10405T>C (p.Leu3469=)
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=)
NM_152564.5(VPS13B):c.10419G>A (p.Lys3473=) rs2130917440
NM_152564.5(VPS13B):c.1041A>T (p.Ser347=) rs149176010
NM_152564.5(VPS13B):c.10449C>T (p.Thr3483=)
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=) rs2130917547
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=) rs2130917565
NM_152564.5(VPS13B):c.10461C>G (p.Gly3487=)
NM_152564.5(VPS13B):c.10470C>T (p.Ile3490=)
NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=)
NM_152564.5(VPS13B):c.1047C>T (p.Ala349=) rs751477638
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=) rs781420614
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=)
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=)
NM_152564.5(VPS13B):c.10518A>G (p.Leu3506=) rs759427770
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=) rs113120767
NM_152564.5(VPS13B):c.10533A>C (p.Thr3511=)
NM_152564.5(VPS13B):c.10539A>T (p.Val3513=)
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=) rs2130917868
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=)
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=)
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=) rs770945510
NM_152564.5(VPS13B):c.1059G>A (p.Val353=)
NM_152564.5(VPS13B):c.105G>A (p.Val35=) rs2132125551
NM_152564.5(VPS13B):c.105G>T (p.Val35=) rs2132125551
NM_152564.5(VPS13B):c.10605C>T (p.His3535=) rs937349095
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=)
NM_152564.5(VPS13B):c.10638G>A (p.Gln3546=)
NM_152564.5(VPS13B):c.10644A>G (p.Thr3548=)
NM_152564.5(VPS13B):c.10644A>T (p.Thr3548=) rs2130918119
NM_152564.5(VPS13B):c.10653C>G (p.Ala3551=) rs2130918176
NM_152564.5(VPS13B):c.10659C>T (p.Ala3553=) rs2130918188
NM_152564.5(VPS13B):c.10660T>C (p.Leu3554=)
NM_152564.5(VPS13B):c.10680A>G (p.Leu3560=) rs779816885
NM_152564.5(VPS13B):c.10681C>A (p.Arg3561=) rs200232124
NM_152564.5(VPS13B):c.10689G>A (p.Leu3563=) rs1482772027
NM_152564.5(VPS13B):c.10707T>C (p.Asn3569=)
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=)
NM_152564.5(VPS13B):c.10740G>A (p.Leu3580=)
NM_152564.5(VPS13B):c.10740G>T (p.Leu3580=) rs768333660
NM_152564.5(VPS13B):c.10743C>T (p.Tyr3581=)
NM_152564.5(VPS13B):c.10749C>T (p.Ala3583=) rs2130918435
NM_152564.5(VPS13B):c.10761T>C (p.Thr3587=)
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=) rs1477900241
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=)
NM_152564.5(VPS13B):c.10776G>C (p.Ser3592=) rs547516730
NM_152564.5(VPS13B):c.10779G>A (p.Val3593=) rs2130918492
NM_152564.5(VPS13B):c.10791A>G (p.Gly3597=) rs985145622
NM_152564.5(VPS13B):c.10794C>G (p.Pro3598=)
NM_152564.5(VPS13B):c.10794C>T (p.Pro3598=) rs776249260
NM_152564.5(VPS13B):c.10800C>T (p.Phe3600=)
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=) rs755878394
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=)
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=) rs1554581864
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=)
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=) rs2130918674
NM_152564.5(VPS13B):c.10845C>A (p.Ala3615=)
NM_152564.5(VPS13B):c.10867+11A>C
NM_152564.5(VPS13B):c.10867+15T>C rs924741671
NM_152564.5(VPS13B):c.10867+18G>A
NM_152564.5(VPS13B):c.10867+20del
NM_152564.5(VPS13B):c.10867+8C>T rs2130918754
NM_152564.5(VPS13B):c.10867+9A>C
NM_152564.5(VPS13B):c.10868-10T>C
NM_152564.5(VPS13B):c.10868-10T>G
NM_152564.5(VPS13B):c.10868-11G>A rs373157768
NM_152564.5(VPS13B):c.10868-11G>T
NM_152564.5(VPS13B):c.10868-15T>C
NM_152564.5(VPS13B):c.10868-16C>G rs371370357
NM_152564.5(VPS13B):c.10868-20T>G rs2130933205
NM_152564.5(VPS13B):c.10868-5T>C
NM_152564.5(VPS13B):c.10868-6T>C rs2130933328
NM_152564.5(VPS13B):c.10868-8_10868-7del
NM_152564.5(VPS13B):c.10868-9G>T
NM_152564.5(VPS13B):c.1086C>T (p.Gly362=)
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=) rs1334951450
NM_152564.5(VPS13B):c.10899C>A (p.Gly3633=) rs2130933459
NM_152564.5(VPS13B):c.10902C>T (p.Ser3634=) rs2130933479
NM_152564.5(VPS13B):c.10908A>C (p.Ala3636=)
NM_152564.5(VPS13B):c.10908A>G (p.Ala3636=) rs1191575037
NM_152564.5(VPS13B):c.10917G>A (p.Val3639=) rs2130933540
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
NM_152564.5(VPS13B):c.10929G>C (p.Gly3643=)
NM_152564.5(VPS13B):c.1092A>G (p.Glu364=)
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=)
NM_152564.5(VPS13B):c.10968G>T (p.Gly3656=) rs2130933693
NM_152564.5(VPS13B):c.10974C>A (p.Thr3658=)
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=) rs375117356
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=)
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=)
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=)
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=) rs1490561096
NM_152564.5(VPS13B):c.11001C>A (p.Gly3667=) rs367797468
NM_152564.5(VPS13B):c.11004C>T (p.Val3668=) rs1816715303
NM_152564.5(VPS13B):c.11007C>T (p.Ser3669=) rs2130933830
NM_152564.5(VPS13B):c.11008A>C (p.Arg3670=) rs2130933833
NM_152564.5(VPS13B):c.11016C>T (p.Thr3672=) rs2130933856
NM_152564.5(VPS13B):c.11019A>T (p.Thr3673=) rs1588794390
NM_152564.5(VPS13B):c.1101T>C (p.Val367=)
NM_152564.5(VPS13B):c.11028A>C (p.Val3676=) rs746157283
NM_152564.5(VPS13B):c.11031G>A (p.Lys3677=) rs2130933904
NM_152564.5(VPS13B):c.11034C>T (p.His3678=) rs1449788881
NM_152564.5(VPS13B):c.11044+11C>T
NM_152564.5(VPS13B):c.11044+12C>T rs1588794469
NM_152564.5(VPS13B):c.11044+19T>C
NM_152564.5(VPS13B):c.11044+8G>A rs2130933989
NM_152564.5(VPS13B):c.11044+8G>T
NM_152564.5(VPS13B):c.11045-10G>A rs769628992
NM_152564.5(VPS13B):c.11045-10G>C rs769628992
NM_152564.5(VPS13B):c.11045-4T>C rs1588797519
NM_152564.5(VPS13B):c.11055A>G (p.Thr3685=) rs2130941627
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=) rs2130941649
NM_152564.5(VPS13B):c.11070C>G (p.Leu3690=) rs185477101
NM_152564.5(VPS13B):c.11076A>G (p.Thr3692=)
NM_152564.5(VPS13B):c.11082G>C (p.Leu3694=)
NM_152564.5(VPS13B):c.11097C>T (p.Asp3699=)
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=)
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=)
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=)
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=)
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=) rs2130941863
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=)
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=) rs2130941995
NM_152564.5(VPS13B):c.11169C>G (p.Gly3723=) rs1175793742
NM_152564.5(VPS13B):c.1116A>G (p.Ala372=) rs2132516415
NM_152564.5(VPS13B):c.11175G>A (p.Gly3725=)
NM_152564.5(VPS13B):c.11187C>G (p.Gly3729=)
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=) rs201448515
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=)
NM_152564.5(VPS13B):c.11211G>A (p.Leu3737=) rs1195872726
NM_152564.5(VPS13B):c.11215+10T>G rs1213857516
NM_152564.5(VPS13B):c.11215+19T>C
NM_152564.5(VPS13B):c.11215+7G>A rs1588797925
NM_152564.5(VPS13B):c.11215+8G>C
NM_152564.5(VPS13B):c.11216-10G>A
NM_152564.5(VPS13B):c.11216-14T>A
NM_152564.5(VPS13B):c.11216-19A>G
NM_152564.5(VPS13B):c.11220A>G (p.Ala3740=)
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=)
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=) rs2132516445
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.11265A>G (p.Thr3755=)
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=) rs1817209374
NM_152564.5(VPS13B):c.1128T>C (p.His376=)
NM_152564.5(VPS13B):c.11292C>T (p.His3764=)
NM_152564.5(VPS13B):c.11307C>T (p.Val3769=) rs2130963089
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11313G>T (p.Ser3771=) rs753931096
NM_152564.5(VPS13B):c.11316T>C (p.Gly3772=) rs757459511
NM_152564.5(VPS13B):c.11316T>G (p.Gly3772=) rs757459511
NM_152564.5(VPS13B):c.11319G>A (p.Val3773=)
NM_152564.5(VPS13B):c.11322G>A (p.Gly3774=) rs2130963124
NM_152564.5(VPS13B):c.11325A>G (p.Lys3775=) rs1817211481
NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=)
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=) rs2130963173
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=)
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=)
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=) rs1817214262
NM_152564.5(VPS13B):c.11385T>C (p.Thr3795=)
NM_152564.5(VPS13B):c.11392+17C>A
NM_152564.5(VPS13B):c.11392+17C>G rs775949318
NM_152564.5(VPS13B):c.11392+19C>T rs2130963400
NM_152564.5(VPS13B):c.11392+20A>G
NM_152564.5(VPS13B):c.11392+7C>A
NM_152564.5(VPS13B):c.11392+7C>T
NM_152564.5(VPS13B):c.11392+8G>T rs147921058
NM_152564.5(VPS13B):c.11393-12C>G
NM_152564.5(VPS13B):c.11393-16A>C
NM_152564.5(VPS13B):c.11393-16_11393-13del
NM_152564.5(VPS13B):c.11393-20C>G
NM_152564.5(VPS13B):c.11393-6C>A
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=) rs2130972325
NM_152564.5(VPS13B):c.11403T>C (p.His3801=)
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=) rs2130972371
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=) rs2130972392
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=) rs2130972408
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=) rs1362645493
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=)
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=) rs2130972563
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=) rs2130972634
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=)
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=) rs370697316
NM_152564.5(VPS13B):c.11493C>G (p.Val3831=)
NM_152564.5(VPS13B):c.11495+10T>A
NM_152564.5(VPS13B):c.11495+10_11495+11delinsAC rs2130972826
NM_152564.5(VPS13B):c.11495+12G>C
NM_152564.5(VPS13B):c.11495+17A>G rs2130972872
NM_152564.5(VPS13B):c.11495+3_11495+34dup rs2130972756
NM_152564.5(VPS13B):c.11495+8T>C rs942243380
NM_152564.5(VPS13B):c.11495+9_11495+11del rs1817372505
NM_152564.5(VPS13B):c.11496-10T>C rs2130975170
NM_152564.5(VPS13B):c.11496-12C>T
NM_152564.5(VPS13B):c.11496-14C>T rs2130975155
NM_152564.5(VPS13B):c.11496-15T>A
NM_152564.5(VPS13B):c.11496-17T>G
NM_152564.5(VPS13B):c.11496-19C>T
NM_152564.5(VPS13B):c.11496-6A>G rs2130975190
NM_152564.5(VPS13B):c.11514G>T (p.Leu3838=) rs2130975250
NM_152564.5(VPS13B):c.11517C>T (p.Gly3839=) rs1001918842
NM_152564.5(VPS13B):c.11523A>C (p.Pro3841=)
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=) rs753590864
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=) rs2130975340
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=)
NM_152564.5(VPS13B):c.11553G>A (p.Leu3851=)
NM_152564.5(VPS13B):c.11556G>A (p.Val3852=) rs2130975423
NM_152564.5(VPS13B):c.11556G>T (p.Val3852=)
NM_152564.5(VPS13B):c.11571G>A (p.Gln3857=) rs2130975458
NM_152564.5(VPS13B):c.11574G>A (p.Glu3858=)
NM_152564.5(VPS13B):c.11580A>G (p.Glu3860=)
NM_152564.5(VPS13B):c.11583G>A (p.Gly3861=) rs1458677528
NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=)
NM_152564.5(VPS13B):c.11586C>T (p.Cys3862=) rs2130975528
NM_152564.5(VPS13B):c.11587T>C (p.Leu3863=)
NM_152564.5(VPS13B):c.11589G>A (p.Leu3863=) rs1323646177
NM_152564.5(VPS13B):c.11601A>C (p.Ser3867=)
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=) rs2130975550
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=)
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=) rs113454700
NM_152564.5(VPS13B):c.11631G>A (p.Glu3877=)
NM_152564.5(VPS13B):c.11634C>T (p.Asp3878=)
NM_152564.5(VPS13B):c.11637A>G (p.Thr3879=) rs895169322
NM_152564.5(VPS13B):c.11655C>G (p.Pro3885=) rs368092348
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=) rs2130975807
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=) rs2130975878
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=) rs779149986
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=)
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=) rs371985144
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=) rs1206063860
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=) rs2130976100
NM_152564.5(VPS13B):c.11730G>T (p.Val3910=)
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=)
NM_152564.5(VPS13B):c.11739T>C (p.Asp3913=) rs1308209423
NM_152564.5(VPS13B):c.1173A>T (p.Gly391=) rs1160712344
NM_152564.5(VPS13B):c.11742G>A (p.Val3914=) rs1032955226
NM_152564.5(VPS13B):c.11745+10A>G
NM_152564.5(VPS13B):c.11745+13A>G
NM_152564.5(VPS13B):c.11745+17A>T
NM_152564.5(VPS13B):c.11745+18G>A
NM_152564.5(VPS13B):c.11745+19G>A
NM_152564.5(VPS13B):c.11745+8T>C rs2130976234
NM_152564.5(VPS13B):c.11746-15_11746-11dup
NM_152564.5(VPS13B):c.11746-15_11746-12dup
NM_152564.5(VPS13B):c.11746-18_11746-15dup
NM_152564.5(VPS13B):c.11746-7A>C rs1817651650
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=)
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=)
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=)
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=)
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=)
NM_152564.5(VPS13B):c.117G>A (p.Lys39=)
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=)
NM_152564.5(VPS13B):c.11823C>T (p.His3941=)
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=)
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=) rs1257015556
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=)
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=)
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=)
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=)
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=)
NM_152564.5(VPS13B):c.11889C>T (p.Ser3963=)
NM_152564.5(VPS13B):c.11895T>A (p.Val3965=) rs1014579158
NM_152564.5(VPS13B):c.11895T>C (p.Val3965=) rs1014579158
NM_152564.5(VPS13B):c.11911C>T (p.Leu3971=) rs2130990707
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=)
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=)
NM_152564.5(VPS13B):c.11976G>A (p.Leu3992=) rs2130990950
NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=)
NM_152564.5(VPS13B):c.11982A>G (p.Lys3994=)
NM_152564.5(VPS13B):c.11985G>T (p.Gly3995=)
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=)
NM_152564.5(VPS13B):c.1203C>T (p.Phe401=)
NM_152564.5(VPS13B):c.1206+11T>G
NM_152564.5(VPS13B):c.1206+12C>T
NM_152564.5(VPS13B):c.1206+17G>A
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1206+20G>A rs2132516774
NM_152564.5(VPS13B):c.1206+20G>T
NM_152564.5(VPS13B):c.1206+7C>G
NM_152564.5(VPS13B):c.1206+8T>G rs889247005
NM_152564.5(VPS13B):c.1207-15T>G
NM_152564.5(VPS13B):c.1207-19A>G
NM_152564.5(VPS13B):c.1207-5del rs2132553921
NM_152564.5(VPS13B):c.1207-9A>G rs2132553905
NM_152564.5(VPS13B):c.120C>A (p.Leu40=) rs1217032484
NM_152564.5(VPS13B):c.120C>G (p.Leu40=)
NM_152564.5(VPS13B):c.1227G>A (p.Glu409=)
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=) rs1355692148
NM_152564.5(VPS13B):c.123G>A (p.Glu41=)
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=) rs2132554032
NM_152564.5(VPS13B):c.1248G>A (p.Gln416=)
NM_152564.5(VPS13B):c.1260T>C (p.Ser420=)
NM_152564.5(VPS13B):c.1260T>G (p.Ser420=) rs1809978399
NM_152564.5(VPS13B):c.1269A>G (p.Val423=)
NM_152564.5(VPS13B):c.1281A>G (p.Glu427=) rs370660111
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.1302+10C>T
NM_152564.5(VPS13B):c.1302+11A>T
NM_152564.5(VPS13B):c.1302+17G>A
NM_152564.5(VPS13B):c.1302+19A>T
NM_152564.5(VPS13B):c.1303-19G>A
NM_152564.5(VPS13B):c.1303-19G>T
NM_152564.5(VPS13B):c.1303-20T>C
NM_152564.5(VPS13B):c.1303-4A>T
NM_152564.5(VPS13B):c.1303-9G>C rs370251445
NM_152564.5(VPS13B):c.1305C>A (p.Ala435=)
NM_152564.5(VPS13B):c.1323T>C (p.Pro441=) rs2132555095
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=)
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=) rs2132555166
NM_152564.5(VPS13B):c.1368C>T (p.Cys456=) rs2132555233
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.1386T>C (p.Gly462=)
NM_152564.5(VPS13B):c.138G>A (p.Val46=) rs1841451847
NM_152564.5(VPS13B):c.139C>T (p.Leu47=) rs2132125682
NM_152564.5(VPS13B):c.141G>C (p.Leu47=) rs1841451940
NM_152564.5(VPS13B):c.1425+17C>T
NM_152564.5(VPS13B):c.1425+18A>G
NM_152564.5(VPS13B):c.1425+7C>G
NM_152564.5(VPS13B):c.1425+9G>T rs551460373
NM_152564.5(VPS13B):c.1426-12A>T
NM_152564.5(VPS13B):c.1426-14G>A
NM_152564.5(VPS13B):c.1426-8del rs2132556521
NM_152564.5(VPS13B):c.1431C>G (p.Ala477=)
NM_152564.5(VPS13B):c.1449T>C (p.Gly483=) rs2132556560
NM_152564.5(VPS13B):c.1452C>T (p.Asp484=) rs2132556577
NM_152564.5(VPS13B):c.1456T>C (p.Leu486=) rs879308072
NM_152564.5(VPS13B):c.147+13_147+22del
NM_152564.5(VPS13B):c.147+18C>A
NM_152564.5(VPS13B):c.147+19A>C
NM_152564.5(VPS13B):c.147+19_147+20del
NM_152564.5(VPS13B):c.147+8_147+15del rs1587912564
NM_152564.5(VPS13B):c.1470T>A (p.Gly490=) rs2132556626
NM_152564.5(VPS13B):c.1479C>T (p.Tyr493=) rs751986362
NM_152564.5(VPS13B):c.148-10G>T
NM_152564.5(VPS13B):c.148-5T>C
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=) rs374276141
NM_152564.5(VPS13B):c.1491A>G (p.Ser497=) rs374276141
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=)
NM_152564.5(VPS13B):c.150A>G (p.Glu50=) rs2132221924
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=) rs778708757
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=) rs2132556812
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=)
NM_152564.5(VPS13B):c.1554T>G (p.Thr518=)
NM_152564.5(VPS13B):c.1563+10T>A
NM_152564.5(VPS13B):c.1563+13A>G
NM_152564.5(VPS13B):c.1563+14T>A
NM_152564.5(VPS13B):c.1563+14T>C
NM_152564.5(VPS13B):c.1563+15A>G
NM_152564.5(VPS13B):c.1563+9A>T
NM_152564.5(VPS13B):c.1563+9del
NM_152564.5(VPS13B):c.1564-4G>A
NM_152564.5(VPS13B):c.1564-5G>T rs2132559204
NM_152564.5(VPS13B):c.1564-6T>C rs2132559193
NM_152564.5(VPS13B):c.1564-7T>C
NM_152564.5(VPS13B):c.1564-8G>T rs2132559174
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=) rs797046094
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=) rs2132559241
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=) rs1810085883
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=) rs2132559289
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=)
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=) rs1266552493
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=) rs1193051483
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=)
NM_152564.5(VPS13B):c.1651+14T>C
NM_152564.5(VPS13B):c.1651+8C>T rs2132559576
NM_152564.5(VPS13B):c.1651+9T>A rs2132559589
NM_152564.5(VPS13B):c.1652-12G>C
NM_152564.5(VPS13B):c.1652-19A>G
NM_152564.5(VPS13B):c.1652-5T>G
NM_152564.5(VPS13B):c.1652-7C>A rs2132580880
NM_152564.5(VPS13B):c.1652-7del rs757852076
NM_152564.5(VPS13B):c.1652-8T>G rs2132580871
NM_152564.5(VPS13B):c.1653T>C (p.Gly551=)
NM_152564.5(VPS13B):c.1656C>A (p.Ser552=) rs766281883
NM_152564.5(VPS13B):c.1659A>T (p.Thr553=)
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=)
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=) rs1459744373
NM_152564.5(VPS13B):c.1680A>G (p.Ser560=)
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
NM_152564.5(VPS13B):c.1704A>T (p.Thr568=) rs190009435
NM_152564.5(VPS13B):c.1713G>A (p.Glu571=) rs753346782
NM_152564.5(VPS13B):c.171T>C (p.Phe57=) rs2132221990
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=)
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=) rs762989966
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=)
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=) rs2132581334
NM_152564.5(VPS13B):c.1773G>A (p.Val591=)
NM_152564.5(VPS13B):c.1830C>T (p.Ser610=)
NM_152564.5(VPS13B):c.1831A>C (p.Arg611=) rs2132581522
NM_152564.5(VPS13B):c.1843+10T>G rs371154826
NM_152564.5(VPS13B):c.1843+13A>G
NM_152564.5(VPS13B):c.1843+17A>G
NM_152564.5(VPS13B):c.1844-11T>C
NM_152564.5(VPS13B):c.1844-12T>A
NM_152564.5(VPS13B):c.1844-14C>G rs756456382
NM_152564.5(VPS13B):c.1844-14C>T
NM_152564.5(VPS13B):c.1844-15T>A
NM_152564.5(VPS13B):c.1844-16A>G
NM_152564.5(VPS13B):c.1844-18T>C
NM_152564.5(VPS13B):c.1844-8A>C rs2132596591
NM_152564.5(VPS13B):c.1844-8_1844-4del rs745701200
NM_152564.5(VPS13B):c.1845T>C (p.Asp615=)
NM_152564.5(VPS13B):c.1869A>T (p.Ile623=) rs1432601796
NM_152564.5(VPS13B):c.186T>C (p.Ile62=)
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=)
NM_152564.5(VPS13B):c.1887G>C (p.Val629=) rs138291421
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=)
NM_152564.5(VPS13B):c.18A>C (p.Val6=) rs1490457051
NM_152564.5(VPS13B):c.18A>G (p.Val6=) rs1490457051
NM_152564.5(VPS13B):c.18A>T (p.Val6=)
NM_152564.5(VPS13B):c.1911T>C (p.Pro637=)
NM_152564.5(VPS13B):c.192A>G (p.Glu64=)
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=)
NM_152564.5(VPS13B):c.1935C>T (p.Leu645=)
NM_152564.5(VPS13B):c.1938C>T (p.Leu646=) rs2132596935
NM_152564.5(VPS13B):c.193T>C (p.Leu65=) rs2132222030
NM_152564.5(VPS13B):c.1944T>C (p.Cys648=) rs988245745
NM_152564.5(VPS13B):c.1947C>G (p.Thr649=)
NM_152564.5(VPS13B):c.1953A>T (p.Thr651=) rs756544361
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=) rs2132597068
NM_152564.5(VPS13B):c.1975T>C (p.Leu659=) rs754099212
NM_152564.5(VPS13B):c.1978C>T (p.Leu660=)
NM_152564.5(VPS13B):c.1989A>G (p.Leu663=)
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=)
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=) rs758566685
NM_152564.5(VPS13B):c.1995T>C (p.Pro665=)
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=) rs747119024
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=)
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=) rs1242797162
NM_152564.5(VPS13B):c.2013+15T>C
NM_152564.5(VPS13B):c.2013+19T>C
NM_152564.5(VPS13B):c.2014-15A>G rs1811373750
NM_152564.5(VPS13B):c.2014-7T>A
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=)
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=) rs2132624190
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu) rs372585253
NM_152564.5(VPS13B):c.204T>C (p.His68=)
NM_152564.5(VPS13B):c.2058G>T (p.Arg686=) rs1811377192
NM_152564.5(VPS13B):c.2073T>C (p.Ile691=)
NM_152564.5(VPS13B):c.207A>G (p.Val69=)
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=)
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=)
NM_152564.5(VPS13B):c.210A>C (p.Pro70=)
NM_152564.5(VPS13B):c.210A>G (p.Pro70=)
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=) rs1388916447
NM_152564.5(VPS13B):c.2142G>C (p.Val714=)
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=) rs2132624558
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=)
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=)
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=)
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=) rs757079471
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys)
NM_152564.5(VPS13B):c.2193A>G (p.Val731=)
NM_152564.5(VPS13B):c.219A>G (p.Lys73=) rs1842838550
NM_152564.5(VPS13B):c.2208+10G>A rs1386411395
NM_152564.5(VPS13B):c.2208+19_2208+21del
NM_152564.5(VPS13B):c.2209-14T>C rs935426581
NM_152564.5(VPS13B):c.2209-17T>C
NM_152564.5(VPS13B):c.2209-19T>A
NM_152564.5(VPS13B):c.2209-8T>G rs1426142075
NM_152564.5(VPS13B):c.2209-9T>G
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=)
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=) rs1812239434
NM_152564.5(VPS13B):c.225T>C (p.Gly75=)
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=) rs2132663369
NM_152564.5(VPS13B):c.2283C>G (p.Pro761=) rs2132663446
NM_152564.5(VPS13B):c.2283C>T (p.Pro761=)
NM_152564.5(VPS13B):c.2289C>T (p.Phe763=)
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=)
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=)
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=) rs2132663494
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=)
NM_152564.5(VPS13B):c.2333+11C>G
NM_152564.5(VPS13B):c.2333+13T>C
NM_152564.5(VPS13B):c.2333+16T>A
NM_152564.5(VPS13B):c.2334-10T>C
NM_152564.5(VPS13B):c.2334-13T>C rs768924726
NM_152564.5(VPS13B):c.2334-15T>C rs944097523
NM_152564.5(VPS13B):c.2334-16C>A
NM_152564.5(VPS13B):c.2334-16_2334-11del rs986620460
NM_152564.5(VPS13B):c.2334-18T>A
NM_152564.5(VPS13B):c.2334-18_2334-15del rs2132727808
NM_152564.5(VPS13B):c.2334-19T>C
NM_152564.5(VPS13B):c.2334-19T>G
NM_152564.5(VPS13B):c.2334-20C>A
NM_152564.5(VPS13B):c.2334-4G>A
NM_152564.5(VPS13B):c.2334-6G>A rs564691751
NM_152564.5(VPS13B):c.2334-6G>T
NM_152564.5(VPS13B):c.2334-9C>T rs2132727896
NM_152564.5(VPS13B):c.2355T>A (p.Ala785=)
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=)
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=)
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=) rs2132728136
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=)
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=) rs2132728204
NM_152564.5(VPS13B):c.240A>G (p.Val80=)
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=)
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=)
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=) rs1449471227
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=) rs2132728537
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=) rs2132728546
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=)
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=)
NM_152564.5(VPS13B):c.2515+10_2515+11del rs756906184
NM_152564.5(VPS13B):c.2515+11A>G
NM_152564.5(VPS13B):c.2515+15T>C
NM_152564.5(VPS13B):c.2515+16596_2515+16608del rs1554674064
NM_152564.5(VPS13B):c.2515+16609T>G rs1554674081
NM_152564.5(VPS13B):c.2515+18T>C
NM_152564.5(VPS13B):c.2515+37177T>C rs207469599
NM_152564.5(VPS13B):c.2515+7G>A
NM_152564.5(VPS13B):c.2516-10C>G
NM_152564.5(VPS13B):c.2516-10C>T
NM_152564.5(VPS13B):c.2516-13T>A
NM_152564.5(VPS13B):c.2516-17C>T rs1198342716
NM_152564.5(VPS13B):c.2516-5A>G rs756282496
NM_152564.5(VPS13B):c.2516-6T>C rs2132994722
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=)
NM_152564.5(VPS13B):c.2541A>G (p.Pro847=) rs2132994812
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=)
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=)
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=)
NM_152564.5(VPS13B):c.2586C>T (p.Ser862=) rs2132994959
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=) rs865998297
NM_152564.5(VPS13B):c.2589A>T (p.Thr863=)
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=)
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=)
NM_152564.5(VPS13B):c.2607C>T (p.Ala869=) rs2132995061
NM_152564.5(VPS13B):c.2613G>A (p.Gly871=) rs543695683
NM_152564.5(VPS13B):c.2625A>G (p.Ser875=)
NM_152564.5(VPS13B):c.2634T>C (p.Ile878=) rs771711465
NM_152564.5(VPS13B):c.2640C>T (p.Ala880=)
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=) rs369124790
NM_152564.5(VPS13B):c.2650+14G>A
NM_152564.5(VPS13B):c.2650+15A>G
NM_152564.5(VPS13B):c.2650+17C>A rs753268999
NM_152564.5(VPS13B):c.2650+18G>A
NM_152564.5(VPS13B):c.2650+18G>T
NM_152564.5(VPS13B):c.2650+19T>C
NM_152564.5(VPS13B):c.2650+8C>T rs2132995227
NM_152564.5(VPS13B):c.2651-17T>A
NM_152564.5(VPS13B):c.2651-18A>G
NM_152564.5(VPS13B):c.2651-4T>C
NM_152564.5(VPS13B):c.2651-5T>G
NM_152564.5(VPS13B):c.2670G>A (p.Lys890=) rs2132998272
NM_152564.5(VPS13B):c.2676T>A (p.Ile892=) rs2132998319
NM_152564.5(VPS13B):c.2679C>G (p.Pro893=)
NM_152564.5(VPS13B):c.2703T>C (p.Thr901=)
NM_152564.5(VPS13B):c.2709C>T (p.Asp903=) rs1295995587
NM_152564.5(VPS13B):c.2715T>C (p.His905=) rs1161109130
NM_152564.5(VPS13B):c.2718C>T (p.Ser906=)
NM_152564.5(VPS13B):c.2724G>A (p.Lys908=)
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=) rs2132998543
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=)
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=)
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=)
NM_152564.5(VPS13B):c.276T>A (p.Leu92=)
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=)
NM_152564.5(VPS13B):c.2784A>C (p.Thr928=) rs2132998726
NM_152564.5(VPS13B):c.2799A>G (p.Gln933=) rs1818831444
NM_152564.5(VPS13B):c.2802T>C (p.Tyr934=) rs906591800
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=)
NM_152564.5(VPS13B):c.2824+13C>G
NM_152564.5(VPS13B):c.2824+15A>G
NM_152564.5(VPS13B):c.2824+18A>C
NM_152564.5(VPS13B):c.2824+18A>G rs756055744
NM_152564.5(VPS13B):c.2824+5_2824+11dup
NM_152564.5(VPS13B):c.2824+7A>G rs2132999013
NM_152564.5(VPS13B):c.2824+8C>G
NM_152564.5(VPS13B):c.2825-11T>C
NM_152564.5(VPS13B):c.2825-13T>C
NM_152564.5(VPS13B):c.2825-14A>G
NM_152564.5(VPS13B):c.2825-9G>A rs2133295036
NM_152564.5(VPS13B):c.2829T>C (p.Ala943=)
NM_152564.5(VPS13B):c.2832A>G (p.Val944=)
NM_152564.5(VPS13B):c.285G>A (p.Gly95=) rs2132222228
NM_152564.5(VPS13B):c.285G>C (p.Gly95=)
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=) rs371301713
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=)
NM_152564.5(VPS13B):c.291+10T>A
NM_152564.5(VPS13B):c.291+10T>G rs2132222283
NM_152564.5(VPS13B):c.291+11A>G
NM_152564.5(VPS13B):c.291+13T>C
NM_152564.5(VPS13B):c.291+17C>G
NM_152564.5(VPS13B):c.291+20A>C rs2132222331
NM_152564.5(VPS13B):c.291+7A>C rs571078874
NM_152564.5(VPS13B):c.291+8A>G
NM_152564.5(VPS13B):c.292-12A>T
NM_152564.5(VPS13B):c.292-18T>C rs2132431309
NM_152564.5(VPS13B):c.2934+14A>C
NM_152564.5(VPS13B):c.2934+19A>T
NM_152564.5(VPS13B):c.2934+7G>A rs368439781
NM_152564.5(VPS13B):c.2934+7G>T
NM_152564.5(VPS13B):c.2934+8A>T
NM_152564.5(VPS13B):c.2935-10C>T
NM_152564.5(VPS13B):c.2935-12G>A
NM_152564.5(VPS13B):c.2935-14T>G
NM_152564.5(VPS13B):c.2935-17A>G
NM_152564.5(VPS13B):c.2935-20T>C
NM_152564.5(VPS13B):c.2935-4C>A rs207469601
NM_152564.5(VPS13B):c.2940T>C (p.Pro980=)
NM_152564.5(VPS13B):c.2943G>T (p.Val981=) rs759221342
NM_152564.5(VPS13B):c.2946A>C (p.Val982=)
NM_152564.5(VPS13B):c.2946A>G (p.Val982=) rs2133312490
NM_152564.5(VPS13B):c.2946A>T (p.Val982=) rs2133312490
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu)
NM_152564.5(VPS13B):c.2970T>C (p.Val990=)
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=) rs2133312565
NM_152564.5(VPS13B):c.2982A>G (p.Lys994=) rs750994865
NM_152564.5(VPS13B):c.2985G>A (p.Glu995=) rs1484738776
NM_152564.5(VPS13B):c.2991G>A (p.Glu997=)
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=) rs1465563233
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=)
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=)
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=) rs199519352
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=) rs1563704394
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=)
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=) rs1043986535
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=) rs1814454495
NM_152564.5(VPS13B):c.3039C>T (p.Ala1013=) rs1369894896
NM_152564.5(VPS13B):c.3048T>C (p.Tyr1016=) rs2133312781
NM_152564.5(VPS13B):c.3060T>C (p.Pro1020=)
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=) rs2133312842
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=)
NM_152564.5(VPS13B):c.3082+12G>A
NM_152564.5(VPS13B):c.3082+13T>C
NM_152564.5(VPS13B):c.3082+14A>G
NM_152564.5(VPS13B):c.3082+17G>A rs2133312921
NM_152564.5(VPS13B):c.3082+18dup
NM_152564.5(VPS13B):c.3082+19A>G
NM_152564.5(VPS13B):c.3082+9C>A
NM_152564.5(VPS13B):c.3083-11C>T
NM_152564.5(VPS13B):c.3083-6A>G
NM_152564.5(VPS13B):c.3083-7_3083-6dup
NM_152564.5(VPS13B):c.3083-8G>C
NM_152564.5(VPS13B):c.3083-8G>T rs201973611
NM_152564.5(VPS13B):c.3090C>A (p.Arg1030=) rs2133412233
NM_152564.5(VPS13B):c.3090C>T (p.Arg1030=)
NM_152564.5(VPS13B):c.3093A>G (p.Pro1031=)
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=) rs373538168
NM_152564.5(VPS13B):c.3099A>G (p.Ser1033=) rs1480645575
NM_152564.5(VPS13B):c.309T>C (p.Cys103=) rs2132431451
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=)
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=)
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=) rs2133412382
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=)
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=) rs2133412452
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=)
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=)
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=)
NM_152564.5(VPS13B):c.3210+10A>T rs2133412544
NM_152564.5(VPS13B):c.3210+10_3210+11del
NM_152564.5(VPS13B):c.3210+16G>T
NM_152564.5(VPS13B):c.3210+9A>C rs1430245354
NM_152564.5(VPS13B):c.3211-12T>C
NM_152564.5(VPS13B):c.3211-9C>G rs772598316
NM_152564.5(VPS13B):c.3211-9C>T
NM_152564.5(VPS13B):c.3213T>C (p.Leu1071=) rs1588384604
NM_152564.5(VPS13B):c.3219A>G (p.Val1073=) rs1234904975
NM_152564.5(VPS13B):c.3222A>G (p.Gln1074=) rs979109725
NM_152564.5(VPS13B):c.3225T>C (p.Ser1075=) rs2133440516
NM_152564.5(VPS13B):c.3237T>C (p.Phe1079=) rs2133440561
NM_152564.5(VPS13B):c.3249T>C (p.Asp1083=)
NM_152564.5(VPS13B):c.324C>A (p.Thr108=) rs1846416304
NM_152564.5(VPS13B):c.3252C>T (p.Ser1084=)
NM_152564.5(VPS13B):c.3253C>T (p.Leu1085=) rs2133440599
NM_152564.5(VPS13B):c.3261C>T (p.Ser1087=)
NM_152564.5(VPS13B):c.3276A>G (p.Val1092=)
NM_152564.5(VPS13B):c.3279T>C (p.Ser1093=) rs1817722882
NM_152564.5(VPS13B):c.3285C>T (p.Asp1095=) rs2133440683
NM_152564.5(VPS13B):c.3291T>C (p.Pro1097=) rs2133440688
NM_152564.5(VPS13B):c.3294A>C (p.Gly1098=)
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=) rs770402973
NM_152564.5(VPS13B):c.3312C>T (p.Tyr1104=)
NM_152564.5(VPS13B):c.3315T>C (p.His1105=) rs2133440745
NM_152564.5(VPS13B):c.3324C>A (p.Thr1108=) rs762308992
NM_152564.5(VPS13B):c.3327C>T (p.Ser1109=) rs2133440777
NM_152564.5(VPS13B):c.3336A>G (p.Gly1112=) rs751695118
NM_152564.5(VPS13B):c.3339A>G (p.Thr1113=) rs961797247
NM_152564.5(VPS13B):c.333T>C (p.Ser111=) rs2132431523
NM_152564.5(VPS13B):c.3342T>A (p.Leu1114=)
NM_152564.5(VPS13B):c.3345C>G (p.Val1115=)
NM_152564.5(VPS13B):c.3345C>T (p.Val1115=) rs2133440823
NM_152564.5(VPS13B):c.3351T>C (p.Cys1117=)
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=)
NM_152564.5(VPS13B):c.3384C>T (p.His1128=)
NM_152564.5(VPS13B):c.3414A>G (p.Pro1138=)
NM_152564.5(VPS13B):c.3414A>T (p.Pro1138=)
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=)
NM_152564.5(VPS13B):c.3423C>T (p.Ile1141=) rs1180404619
NM_152564.5(VPS13B):c.3426A>C (p.Pro1142=)
NM_152564.5(VPS13B):c.3429A>G (p.Arg1143=) rs1817730016
NM_152564.5(VPS13B):c.3438T>A (p.Leu1146=)
NM_152564.5(VPS13B):c.3445+11A>C
NM_152564.5(VPS13B):c.3445+11A>T
NM_152564.5(VPS13B):c.3445+14T>A
NM_152564.5(VPS13B):c.3445+7G>A rs2133441083
NM_152564.5(VPS13B):c.3445+7_3445+9dup rs1335342521
NM_152564.5(VPS13B):c.3446-10C>T
NM_152564.5(VPS13B):c.3446-11C>A
NM_152564.5(VPS13B):c.3446-11C>T rs749898086
NM_152564.5(VPS13B):c.3446-12C>G
NM_152564.5(VPS13B):c.3446-17T>G
NM_152564.5(VPS13B):c.3446-19C>T rs2133510590
NM_152564.5(VPS13B):c.3446-6T>A rs371720857
NM_152564.5(VPS13B):c.3446-7A>G rs1286759524
NM_152564.5(VPS13B):c.3446-8T>C rs2133510634
NM_152564.5(VPS13B):c.3446-9C>G
NM_152564.5(VPS13B):c.3446-9C>T
NM_152564.5(VPS13B):c.3450T>C (p.Asp1150=)
NM_152564.5(VPS13B):c.3504A>G (p.Gly1168=) rs2133510852
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=)
NM_152564.5(VPS13B):c.351A>G (p.Lys117=)
NM_152564.5(VPS13B):c.3546C>G (p.Thr1182=) rs2133511066
NM_152564.5(VPS13B):c.3546C>T (p.Thr1182=) rs2133511066
NM_152564.5(VPS13B):c.3561C>G (p.Val1187=)
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=)
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=)
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=) rs749614140
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=)
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=)
NM_152564.5(VPS13B):c.3597A>C (p.Thr1199=) rs1819177226
NM_152564.5(VPS13B):c.3600A>G (p.Arg1200=) rs2133511324
NM_152564.5(VPS13B):c.3606A>G (p.Ser1202=) rs369539973
NM_152564.5(VPS13B):c.3612T>C (p.Val1204=) rs1234050115
NM_152564.5(VPS13B):c.3618T>C (p.Cys1206=) rs386834081
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=)
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=)
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=) rs751086826
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=)
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=) rs2133511479
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=)
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=)
NM_152564.5(VPS13B):c.3666+13G>C
NM_152564.5(VPS13B):c.3666+13G>T
NM_152564.5(VPS13B):c.3666+8C>T
NM_152564.5(VPS13B):c.3666+9A>C
NM_152564.5(VPS13B):c.3667-10A>G rs762331645
NM_152564.5(VPS13B):c.3667-13_3667-11del
NM_152564.5(VPS13B):c.3667-16T>C
NM_152564.5(VPS13B):c.3667-5C>T rs886062540
NM_152564.5(VPS13B):c.3669C>G (p.Val1223=) rs143905569
NM_152564.5(VPS13B):c.3669C>T (p.Val1223=)
NM_152564.5(VPS13B):c.36C>T (p.Ser12=)
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=)
NM_152564.5(VPS13B):c.3723G>A (p.Gln1241=)
NM_152564.5(VPS13B):c.3726G>A (p.Lys1242=)
NM_152564.5(VPS13B):c.372A>G (p.Arg124=) rs752604752
NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=) rs1465822174
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val) rs562686924
NM_152564.5(VPS13B):c.3753C>T (p.Thr1251=)
NM_152564.5(VPS13B):c.3759A>G (p.Pro1253=) rs766690954
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
NM_152564.5(VPS13B):c.3771A>G (p.Ala1257=) rs2133556390
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=) rs867311125
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=)
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=)
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=)
NM_152564.5(VPS13B):c.3816T>A (p.Ala1272=)
NM_152564.5(VPS13B):c.3816T>C (p.Ala1272=)
NM_152564.5(VPS13B):c.3816T>G (p.Ala1272=)
NM_152564.5(VPS13B):c.3822A>G (p.Pro1274=)
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=) rs2133556534
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=) rs1183777904
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=)
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=)
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=) rs2133556617
NM_152564.5(VPS13B):c.3870+18dup
NM_152564.5(VPS13B):c.3870+20C>G
NM_152564.5(VPS13B):c.3871-10C>T rs1210475186
NM_152564.5(VPS13B):c.3871-11C>A
NM_152564.5(VPS13B):c.3871-11C>G
NM_152564.5(VPS13B):c.3871-12T>C
NM_152564.5(VPS13B):c.3871-13dup
NM_152564.5(VPS13B):c.3871-14T>C
NM_152564.5(VPS13B):c.3871-17T>C
NM_152564.5(VPS13B):c.3871-5C>A
NM_152564.5(VPS13B):c.3871-7A>G rs1425649545
NM_152564.5(VPS13B):c.3891T>A (p.Gly1297=) rs1402449887
NM_152564.5(VPS13B):c.3891T>G (p.Gly1297=) rs1402449887
NM_152564.5(VPS13B):c.3897A>G (p.Glu1299=)
NM_152564.5(VPS13B):c.3900A>G (p.Ser1300=) rs2133609681
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=)
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=)
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=)
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=)
NM_152564.5(VPS13B):c.3981G>A (p.Gln1327=) rs1588442639
NM_152564.5(VPS13B):c.3987G>A (p.Val1329=)
NM_152564.5(VPS13B):c.3993C>G (p.Pro1331=)
NM_152564.5(VPS13B):c.4023T>C (p.Asp1341=)
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=)
NM_152564.5(VPS13B):c.4042+11C>G
NM_152564.5(VPS13B):c.4042+15T>C rs2133609969
NM_152564.5(VPS13B):c.4042+20_4042+23del
NM_152564.5(VPS13B):c.4043-20C>T
NM_152564.5(VPS13B):c.4043-4G>A
NM_152564.5(VPS13B):c.4043-9T>C
NM_152564.5(VPS13B):c.4047T>G (p.Val1349=) rs1004879836
NM_152564.5(VPS13B):c.4056C>T (p.Val1352=)
NM_152564.5(VPS13B):c.405A>G (p.Leu135=) rs2132431834
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=) rs755818465
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=)
NM_152564.5(VPS13B):c.4080T>A (p.Ala1360=) rs758803331
NM_152564.5(VPS13B):c.4080T>C (p.Ala1360=) rs758803331
NM_152564.5(VPS13B):c.4083C>T (p.Ser1361=)
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=) rs769085208
NM_152564.5(VPS13B):c.412+18C>A
NM_152564.5(VPS13B):c.412+20A>G
NM_152564.5(VPS13B):c.413-10T>C rs897984303
NM_152564.5(VPS13B):c.413-11del
NM_152564.5(VPS13B):c.413-15T>A
NM_152564.5(VPS13B):c.413-18T>C
NM_152564.5(VPS13B):c.413-19C>A
NM_152564.5(VPS13B):c.413-19_413-18del
NM_152564.5(VPS13B):c.413-19del
NM_152564.5(VPS13B):c.413-5T>C rs1846839473
NM_152564.5(VPS13B):c.413-9A>G rs2132453724
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=)
NM_152564.5(VPS13B):c.4157+15A>C
NM_152564.5(VPS13B):c.4157+15A>G
NM_152564.5(VPS13B):c.4157+15_4157+21del
NM_152564.5(VPS13B):c.4157+16T>C rs1307808618
NM_152564.5(VPS13B):c.4157+19A>T
NM_152564.5(VPS13B):c.4157+9T>C
NM_152564.5(VPS13B):c.4158-16A>C rs1554824637
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=) rs1554824647
NM_152564.5(VPS13B):c.420G>A (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.420G>T (p.Val140=) rs1379154568
NM_152564.5(VPS13B):c.4224+548T>G
NM_152564.5(VPS13B):c.4224+556A>G rs1554824890
NM_152564.5(VPS13B):c.4224+715A>C
NM_152564.5(VPS13B):c.4224+716A>G
NM_152564.5(VPS13B):c.4224+719A>G
NM_152564.5(VPS13B):c.4224+720C>T
NM_152564.5(VPS13B):c.4224+725A>T rs1554825046
NM_152564.5(VPS13B):c.4225-9T>C
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=)
NM_152564.5(VPS13B):c.423G>A (p.Gln141=)
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=)
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=)
NM_152564.5(VPS13B):c.4272C>A (p.Leu1424=)
NM_152564.5(VPS13B):c.4276C>T (p.Leu1426=)
NM_152564.5(VPS13B):c.4278G>A (p.Leu1426=) rs2133637215
NM_152564.5(VPS13B):c.4281A>G (p.Thr1427=) rs2133637227
NM_152564.5(VPS13B):c.4293T>G (p.Ala1431=) rs777067859
NM_152564.5(VPS13B):c.4296A>G (p.Val1432=)
NM_152564.5(VPS13B):c.4302A>G (p.Lys1434=)
NM_152564.5(VPS13B):c.4305T>C (p.Asn1435=) rs2133637292
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=)
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=) rs2133637329
NM_152564.5(VPS13B):c.4335G>A (p.Glu1445=) rs781336187
NM_152564.5(VPS13B):c.4336C>A (p.Arg1446=) rs386834086
NM_152564.5(VPS13B):c.4359T>C (p.Ser1453=) rs1187402533
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=) rs775013418
NM_152564.5(VPS13B):c.4365C>G (p.Gly1455=) rs1287791786
NM_152564.5(VPS13B):c.4377T>C (p.Gly1459=) rs773536381
NM_152564.5(VPS13B):c.4389T>C (p.Phe1463=) rs766779948
NM_152564.5(VPS13B):c.438A>G (p.Arg146=)
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=)
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=)
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=)
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=)
NM_152564.5(VPS13B):c.4446A>G (p.Leu1482=) rs2133637669
NM_152564.5(VPS13B):c.4464T>C (p.Ser1488=) rs2133637727
NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=)
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=)
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=)
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=)
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=)
NM_152564.5(VPS13B):c.4530G>A (p.Arg1510=) rs2133637865
NM_152564.5(VPS13B):c.4533C>T (p.Thr1511=) rs2133637873
NM_152564.5(VPS13B):c.4536T>C (p.His1512=) rs2133637886
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=)
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=)
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=) rs1821781006
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=)
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=) rs150376603
NM_152564.5(VPS13B):c.4560T>C (p.Pro1520=) rs2133638000
NM_152564.5(VPS13B):c.4569T>C (p.Tyr1523=) rs1361356353
NM_152564.5(VPS13B):c.456C>T (p.Asn152=)
NM_152564.5(VPS13B):c.4584A>G (p.Val1528=) rs1443868978
NM_152564.5(VPS13B):c.4620G>A (p.Gln1540=)
NM_152564.5(VPS13B):c.4633+13G>T rs771515364
NM_152564.5(VPS13B):c.4633+14A>T
NM_152564.5(VPS13B):c.4633+7T>A
NM_152564.5(VPS13B):c.4633+7T>G rs1821787119
NM_152564.5(VPS13B):c.4634-10T>C rs2133668051
NM_152564.5(VPS13B):c.4634-18del rs2133668025
NM_152564.5(VPS13B):c.4634-9T>C rs2133668059
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=)
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=)
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=) rs1822351966
NM_152564.5(VPS13B):c.4665T>G (p.Val1555=)
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=)
NM_152564.5(VPS13B):c.4674T>C (p.Ile1558=) rs2133668264
NM_152564.5(VPS13B):c.4677C>T (p.Gly1559=)
NM_152564.5(VPS13B):c.4692T>C (p.Ala1564=) rs1219782050
NM_152564.5(VPS13B):c.4695C>T (p.Pro1565=) rs2133668316
NM_152564.5(VPS13B):c.4698G>A (p.Gln1566=)
NM_152564.5(VPS13B):c.4701T>G (p.Ala1567=)
NM_152564.5(VPS13B):c.4704C>T (p.Asp1568=) rs1030235559
NM_152564.5(VPS13B):c.4707T>C (p.Asn1569=)
NM_152564.5(VPS13B):c.4716C>G (p.Gly1572=)
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=) rs1158360713
NM_152564.5(VPS13B):c.4740T>C (p.Ile1580=) rs1402302415
NM_152564.5(VPS13B):c.4745+10T>C
NM_152564.5(VPS13B):c.4745+18T>A
NM_152564.5(VPS13B):c.4745+18T>C
NM_152564.5(VPS13B):c.4745+7T>G
NM_152564.5(VPS13B):c.4745+9A>G
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4746-17T>A
NM_152564.5(VPS13B):c.4746-17T>C
NM_152564.5(VPS13B):c.4746-18T>C
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=)
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=)
NM_152564.5(VPS13B):c.4758C>T (p.Asn1586=) rs1452358488
NM_152564.5(VPS13B):c.4761A>G (p.Leu1587=)
NM_152564.5(VPS13B):c.4767T>C (p.Ile1589=)
NM_152564.5(VPS13B):c.4782A>T (p.Gly1594=) rs2133764676
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=)
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=) rs1355209169
NM_152564.5(VPS13B):c.480A>G (p.Leu160=)
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=) rs1824574633
NM_152564.5(VPS13B):c.4821G>A (p.Gln1607=) rs757495847
NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=) rs2133764753
NM_152564.5(VPS13B):c.4830T>C (p.Asn1610=) rs1824575375
NM_152564.5(VPS13B):c.4836T>C (p.Gly1612=) rs2133764786
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=) rs779914034
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=)
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=)
NM_152564.5(VPS13B):c.4878C>T (p.Val1626=) rs1294342896
NM_152564.5(VPS13B):c.4881A>G (p.Ser1627=) rs2133764883
NM_152564.5(VPS13B):c.4887G>A (p.Gly1629=) rs747778744
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=) rs747778744
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=)
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=)
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=)
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=)
NM_152564.5(VPS13B):c.4949+10G>T rs1824585165
NM_152564.5(VPS13B):c.4949+12T>C
NM_152564.5(VPS13B):c.4949+14G>A
NM_152564.5(VPS13B):c.4950-10_4950-9insG
NM_152564.5(VPS13B):c.4950-20T>C
NM_152564.5(VPS13B):c.4950-29G>A
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=)
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=) rs182877520
NM_152564.5(VPS13B):c.4959G>T (p.Arg1653=) rs182877520
NM_152564.5(VPS13B):c.4968A>G (p.Glu1656=) rs2133808425
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=) rs2133808450
NM_152564.5(VPS13B):c.4981T>C (p.Leu1661=) rs1825743811
NM_152564.5(VPS13B):c.4989C>G (p.Pro1663=)
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=) rs142380266
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=)
NM_152564.5(VPS13B):c.5001T>C (p.Asp1667=) rs527950476
NM_152564.5(VPS13B):c.5010C>T (p.Val1670=) rs2133808532
NM_152564.5(VPS13B):c.5022A>G (p.Gly1674=) rs1270977455
NM_152564.5(VPS13B):c.5025A>G (p.Ala1675=) rs2133808577
NM_152564.5(VPS13B):c.5043C>T (p.Thr1681=)
NM_152564.5(VPS13B):c.504C>A (p.Val168=)
NM_152564.5(VPS13B):c.504C>T (p.Val168=) rs1417733025
NM_152564.5(VPS13B):c.5052T>C (p.Val1684=)
NM_152564.5(VPS13B):c.5076+10T>C rs2133808701
NM_152564.5(VPS13B):c.5076+11A>C
NM_152564.5(VPS13B):c.5076+12A>G
NM_152564.5(VPS13B):c.5076+13T>C
NM_152564.5(VPS13B):c.5076+20T>A
NM_152564.5(VPS13B):c.5076+20T>C
NM_152564.5(VPS13B):c.5076+8C>A
NM_152564.5(VPS13B):c.5077-12T>C
NM_152564.5(VPS13B):c.5077-15C>T
NM_152564.5(VPS13B):c.5077-18C>T
NM_152564.5(VPS13B):c.5077-6C>G
NM_152564.5(VPS13B):c.5077-6C>T
NM_152564.5(VPS13B):c.507T>C (p.Leu169=)
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=)
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=) rs2133811965
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=)
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=)
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=)
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=)
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=)
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=) rs1235245438
NM_152564.5(VPS13B):c.5154T>G (p.Val1718=) rs1235245438
NM_152564.5(VPS13B):c.5160C>G (p.Leu1720=)
NM_152564.5(VPS13B):c.516T>C (p.Asn172=)
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=) rs2133812127
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=) rs1454613781
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=)
NM_152564.5(VPS13B):c.5220+10A>G rs1221192419
NM_152564.5(VPS13B):c.5220+12C>T
NM_152564.5(VPS13B):c.5220+12del
NM_152564.5(VPS13B):c.5220+14dup rs1376069910
NM_152564.5(VPS13B):c.5220+16T>G
NM_152564.5(VPS13B):c.5220+17T>C
NM_152564.5(VPS13B):c.5220+18T>C
NM_152564.5(VPS13B):c.5221-13T>C
NM_152564.5(VPS13B):c.5221-15A>G
NM_152564.5(VPS13B):c.5221-15del
NM_152564.5(VPS13B):c.5221-17T>C rs2133931320
NM_152564.5(VPS13B):c.5221-18A>G
NM_152564.5(VPS13B):c.5221-20T>G
NM_152564.5(VPS13B):c.5221-20_5221-16del
NM_152564.5(VPS13B):c.5221-4A>G rs2133931355
NM_152564.5(VPS13B):c.5221-6T>C rs1829377717
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=)
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=)
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=)
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=)
NM_152564.5(VPS13B):c.5277C>A (p.Thr1759=) rs920541973
NM_152564.5(VPS13B):c.5277C>G (p.Thr1759=)
NM_152564.5(VPS13B):c.5277C>T (p.Thr1759=)
NM_152564.5(VPS13B):c.5289C>T (p.Tyr1763=)
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=)
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=)
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=) rs2133931540
NM_152564.5(VPS13B):c.5373G>A (p.Gln1791=) rs534024412
NM_152564.5(VPS13B):c.537T>C (p.Tyr179=) rs754351909
NM_152564.5(VPS13B):c.5385C>G (p.Ala1795=) rs371961319
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=) rs2133931722
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=)
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=) rs2133931744
NM_152564.5(VPS13B):c.5439C>T (p.Asp1813=) rs1588579468
NM_152564.5(VPS13B):c.5448T>C (p.Ile1816=) rs2133931779
NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=)
NM_152564.5(VPS13B):c.5475C>T (p.Thr1825=)
NM_152564.5(VPS13B):c.5490C>G (p.Ala1830=) rs1829392538
NM_152564.5(VPS13B):c.5496C>A (p.Ser1832=)
NM_152564.5(VPS13B):c.5496C>T (p.Ser1832=)
NM_152564.5(VPS13B):c.5499A>G (p.Lys1833=)
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=) rs143115716
NM_152564.5(VPS13B):c.5508A>G (p.Ser1836=)
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=) rs2133931892
NM_152564.5(VPS13B):c.5514A>G (p.Glu1838=)
NM_152564.5(VPS13B):c.5526T>C (p.Asn1842=)
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val) rs141211386
NM_152564.5(VPS13B):c.552A>G (p.Leu184=)
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=) rs1379595802
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=)
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=)
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=)
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=)
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=)
NM_152564.5(VPS13B):c.558T>C (p.Asp186=) rs2132454209
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=)
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=) rs2133932018
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=)
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=) rs368851580
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=)
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=)
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=)
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=)
NM_152564.5(VPS13B):c.5670C>A (p.Val1890=) rs1588579765
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=)
NM_152564.5(VPS13B):c.5670C>T (p.Val1890=) rs1588579765
NM_152564.5(VPS13B):c.5676T>C (p.Ser1892=) rs1057231115
NM_152564.5(VPS13B):c.5679T>G (p.Leu1893=) rs1189138750
NM_152564.5(VPS13B):c.5685T>C (p.Ser1895=)
NM_152564.5(VPS13B):c.5688T>G (p.Leu1896=)
NM_152564.5(VPS13B):c.5700A>T (p.Thr1900=)
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=)
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=)
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=)
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=)
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=)
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=)
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=)
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=)
NM_152564.5(VPS13B):c.5778A>G (p.Leu1926=)
NM_152564.5(VPS13B):c.5788C>T (p.Leu1930=)
NM_152564.5(VPS13B):c.5790G>C (p.Leu1930=) rs1588579889
NM_152564.5(VPS13B):c.580+15A>G
NM_152564.5(VPS13B):c.580+19T>C
NM_152564.5(VPS13B):c.580+20A>G
NM_152564.5(VPS13B):c.580+8A>T
NM_152564.5(VPS13B):c.5802G>A (p.Val1934=)
NM_152564.5(VPS13B):c.5802G>T (p.Val1934=)
NM_152564.5(VPS13B):c.5805C>T (p.Ser1935=)
NM_152564.5(VPS13B):c.581-13T>C
NM_152564.5(VPS13B):c.581-14T>A
NM_152564.5(VPS13B):c.581-17T>C rs199785370
NM_152564.5(VPS13B):c.581-17T>G
NM_152564.5(VPS13B):c.581-18G>A rs2132481452
NM_152564.5(VPS13B):c.581-18del
NM_152564.5(VPS13B):c.581-4T>G
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=)
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=)
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=)
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=)
NM_152564.5(VPS13B):c.5859C>A (p.Ser1953=)
NM_152564.5(VPS13B):c.5871T>C (p.Ala1957=)
NM_152564.5(VPS13B):c.5874G>T (p.Val1958=)
NM_152564.5(VPS13B):c.5886G>A (p.Val1962=)
NM_152564.5(VPS13B):c.5895T>C (p.Asp1965=)
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.5908+14A>G
NM_152564.5(VPS13B):c.5908+19dup
NM_152564.5(VPS13B):c.5908+7A>C
NM_152564.5(VPS13B):c.5908+8C>A
NM_152564.5(VPS13B):c.5909-16A>T
NM_152564.5(VPS13B):c.5909-4T>G
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=) rs2129763250
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=)
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=) rs1588598785
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=)
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=) rs2129763425
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=) rs2129763770
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=) rs2129763862
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=) rs2129764118
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=)
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=)
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=) rs1830220185
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=)
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=)
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=) rs2129764617
NM_152564.5(VPS13B):c.6046+10T>C
NM_152564.5(VPS13B):c.6046+12A>T
NM_152564.5(VPS13B):c.6046+17A>G
NM_152564.5(VPS13B):c.6046+8A>G
NM_152564.5(VPS13B):c.6046+8A>T
NM_152564.5(VPS13B):c.6046+8del rs2129764825
NM_152564.5(VPS13B):c.6046+9G>A rs2129764870
NM_152564.5(VPS13B):c.6046+9G>C rs2129764870
NM_152564.5(VPS13B):c.6047-10A>C rs761450531
NM_152564.5(VPS13B):c.6047-11T>C
NM_152564.5(VPS13B):c.6047-14T>C
NM_152564.5(VPS13B):c.6047-15T>C
NM_152564.5(VPS13B):c.6047-17_6047-16del
NM_152564.5(VPS13B):c.6047-19C>A
NM_152564.5(VPS13B):c.6047-20T>A
NM_152564.5(VPS13B):c.6047-5T>C
NM_152564.5(VPS13B):c.6047-5T>G
NM_152564.5(VPS13B):c.6047-6C>G rs1386160206
NM_152564.5(VPS13B):c.6047-9C>T
NM_152564.5(VPS13B):c.6054C>G (p.Val2018=)
NM_152564.5(VPS13B):c.6057T>C (p.Asn2019=)
NM_152564.5(VPS13B):c.6063T>C (p.Asp2021=) rs919026637
NM_152564.5(VPS13B):c.6087C>T (p.Asn2029=) rs746122729
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=) rs146073786
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=) rs1832185851
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=)
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=)
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=)
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=) rs1832187710
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=) rs1832188570
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=)
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=)
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=)
NM_152564.5(VPS13B):c.624T>C (p.Cys208=) rs2132481707
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=) rs2130180519
NM_152564.5(VPS13B):c.627A>G (p.Thr209=) rs2132481722
NM_152564.5(VPS13B):c.627A>T (p.Thr209=) rs2132481722
NM_152564.5(VPS13B):c.6282A>G (p.Ser2094=) rs2130180683
NM_152564.5(VPS13B):c.6306T>C (p.Ala2102=) rs2130180906
NM_152564.5(VPS13B):c.630T>C (p.Val210=) rs2132481732
NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=) rs2130180969
NM_152564.5(VPS13B):c.6330T>C (p.Ser2110=)
NM_152564.5(VPS13B):c.6399A>G (p.Ala2133=)
NM_152564.5(VPS13B):c.63A>G (p.Leu21=) rs1841448791
NM_152564.5(VPS13B):c.6411C>T (p.Asn2137=)
NM_152564.5(VPS13B):c.6432C>A (p.Val2144=) rs1399379580
NM_152564.5(VPS13B):c.6454+10A>G rs2130181855
NM_152564.5(VPS13B):c.6454+16G>C
NM_152564.5(VPS13B):c.6454+19G>A
NM_152564.5(VPS13B):c.6454+19G>T
NM_152564.5(VPS13B):c.6455-15G>A
NM_152564.5(VPS13B):c.6455-16del
NM_152564.5(VPS13B):c.6455-17C>A
NM_152564.5(VPS13B):c.6455-20_6455-12del
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-9T>A
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=) rs141845131
NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=)
NM_152564.5(VPS13B):c.6483C>A (p.Leu2161=) rs2130316478
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=)
NM_152564.5(VPS13B):c.6513T>C (p.Ser2171=) rs2130316731
NM_152564.5(VPS13B):c.6516C>G (p.Leu2172=) rs1308542502
NM_152564.5(VPS13B):c.6519A>G (p.Lys2173=)
NM_152564.5(VPS13B):c.651C>T (p.Ala217=) rs2132481774
NM_152564.5(VPS13B):c.6543A>T (p.Gly2181=)
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=) rs374153644
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=)
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=) rs746691768
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=)
NM_152564.5(VPS13B):c.6567G>A (p.Leu2189=)
NM_152564.5(VPS13B):c.6570A>G (p.Glu2190=) rs2130317152
NM_152564.5(VPS13B):c.6573T>C (p.Ala2191=)
NM_152564.5(VPS13B):c.6594G>A (p.Gly2198=) rs2130317388
NM_152564.5(VPS13B):c.6600A>C (p.Pro2200=) rs1259627712
NM_152564.5(VPS13B):c.6612A>G (p.Gln2204=)
NM_152564.5(VPS13B):c.6636C>T (p.Asp2212=) rs750393129
NM_152564.5(VPS13B):c.6652C>T (p.Leu2218=) rs559107679
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662
NM_152564.5(VPS13B):c.6657+14G>A rs2130317929
NM_152564.5(VPS13B):c.6657+15G>T
NM_152564.5(VPS13B):c.6657+18A>G
NM_152564.5(VPS13B):c.6657+8G>A rs2130317888
NM_152564.5(VPS13B):c.6658-10G>T
NM_152564.5(VPS13B):c.6658-12A>G
NM_152564.5(VPS13B):c.6658-13T>G
NM_152564.5(VPS13B):c.6658-15T>A
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=) rs2130339813
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=)
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=) rs1833088212
NM_152564.5(VPS13B):c.6702T>C (p.His2234=)
NM_152564.5(VPS13B):c.6705A>G (p.Glu2235=) rs2130339992
NM_152564.5(VPS13B):c.6711C>G (p.Leu2237=)
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=)
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=)
NM_152564.5(VPS13B):c.6747A>C (p.Val2249=)
NM_152564.5(VPS13B):c.6750A>G (p.Gln2250=) rs1833089749
NM_152564.5(VPS13B):c.6756T>C (p.Ser2252=)
NM_152564.5(VPS13B):c.675G>A (p.Gln225=) rs750903037
NM_152564.5(VPS13B):c.6765G>A (p.Val2255=)
NM_152564.5(VPS13B):c.6765G>C (p.Val2255=) rs544426092
NM_152564.5(VPS13B):c.6771A>G (p.Gln2257=)
NM_152564.5(VPS13B):c.6777A>G (p.Ser2259=)
NM_152564.5(VPS13B):c.6780T>C (p.Ser2260=) rs1277725282
NM_152564.5(VPS13B):c.6801A>T (p.Thr2267=) rs2130340554
NM_152564.5(VPS13B):c.6810T>C (p.Ser2270=)
NM_152564.5(VPS13B):c.6813A>G (p.Glu2271=)
NM_152564.5(VPS13B):c.681T>A (p.Pro227=) rs1020075560
NM_152564.5(VPS13B):c.6822A>T (p.Ser2274=)
NM_152564.5(VPS13B):c.6834G>A (p.Arg2278=) rs1833091810
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=)
NM_152564.5(VPS13B):c.684A>G (p.Leu228=)
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=) rs2130340773
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=)
NM_152564.5(VPS13B):c.6865+14G>C
NM_152564.5(VPS13B):c.6865+16C>T
NM_152564.5(VPS13B):c.6865+17T>A
NM_152564.5(VPS13B):c.6865+18C>G rs1373890447
NM_152564.5(VPS13B):c.6865+7A>G
NM_152564.5(VPS13B):c.6866-10T>C rs760306334
NM_152564.5(VPS13B):c.6866-12T>C
NM_152564.5(VPS13B):c.6866-7T>C
NM_152564.5(VPS13B):c.6866-9A>G rs2130342811
NM_152564.5(VPS13B):c.6867A>G (p.Glu2289=) rs1217062116
NM_152564.5(VPS13B):c.6870T>C (p.Ser2290=) rs2130342895
NM_152564.5(VPS13B):c.6882T>C (p.Pro2294=) rs2130342974
NM_152564.5(VPS13B):c.6885G>A (p.Gly2295=) rs1588654731
NM_152564.5(VPS13B):c.6888C>G (p.Val2296=) rs1563881584
NM_152564.5(VPS13B):c.6891T>C (p.Tyr2297=)
NM_152564.5(VPS13B):c.6900A>G (p.Leu2300=)
NM_152564.5(VPS13B):c.6915T>C (p.Thr2305=) rs1833105356
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=) rs2130343166
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=)
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=) rs1175046825
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=)
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=) rs1238316814
NM_152564.5(VPS13B):c.6966C>T (p.Leu2322=)
NM_152564.5(VPS13B):c.6969C>G (p.Thr2323=) rs2130343504
NM_152564.5(VPS13B):c.6969C>T (p.Thr2323=)
NM_152564.5(VPS13B):c.6987T>C (p.Pro2329=) rs2130343654
NM_152564.5(VPS13B):c.6990A>G (p.Val2330=)
NM_152564.5(VPS13B):c.6996T>C (p.Phe2332=)
NM_152564.5(VPS13B):c.6G>T (p.Leu2=) rs752072948
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=)
NM_152564.5(VPS13B):c.7032C>T (p.Asp2344=) rs2130343837
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=) rs1253879066
NM_152564.5(VPS13B):c.7050+13C>G
NM_152564.5(VPS13B):c.7050+13C>T
NM_152564.5(VPS13B):c.7050+17C>A
NM_152564.5(VPS13B):c.7050+18A>G
NM_152564.5(VPS13B):c.7050+9T>C
NM_152564.5(VPS13B):c.7051-11T>C
NM_152564.5(VPS13B):c.7051-13T>A
NM_152564.5(VPS13B):c.7051-17T>G
NM_152564.5(VPS13B):c.7051-3dup
NM_152564.5(VPS13B):c.7051-5C>A
NM_152564.5(VPS13B):c.7051-7A>C rs772934540
NM_152564.5(VPS13B):c.7062C>T (p.Ser2354=) rs2130621143
NM_152564.5(VPS13B):c.7071C>T (p.Tyr2357=)
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=)
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=)
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=)
NM_152564.5(VPS13B):c.7116T>C (p.Asn2372=)
NM_152564.5(VPS13B):c.7119G>A (p.Leu2373=)
NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=)
NM_152564.5(VPS13B):c.7137T>C (p.Cys2379=)
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=) rs542396703
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=)
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=)
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=) rs2130621684
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=)
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=)
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=) rs2130621835
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=) rs2130621889
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=) rs2130621938
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=)
NM_152564.5(VPS13B):c.723A>C (p.Thr241=) rs778049327
NM_152564.5(VPS13B):c.7247+10T>C
NM_152564.5(VPS13B):c.7247+11G>C
NM_152564.5(VPS13B):c.7247+12A>G
NM_152564.5(VPS13B):c.7247+15G>A
NM_152564.5(VPS13B):c.7247+17T>A
NM_152564.5(VPS13B):c.7247+17T>C
NM_152564.5(VPS13B):c.7247+18G>A rs769448684
NM_152564.5(VPS13B):c.7247+19A>C
NM_152564.5(VPS13B):c.7247+19A>G
NM_152564.5(VPS13B):c.7247+8A>C rs2130622077
NM_152564.5(VPS13B):c.7247+9T>A
NM_152564.5(VPS13B):c.7248-11C>A
NM_152564.5(VPS13B):c.7248-16C>T
NM_152564.5(VPS13B):c.7248-4A>G rs2130667870
NM_152564.5(VPS13B):c.7248-6C>T
NM_152564.5(VPS13B):c.7248-9T>G
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=)
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=)
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=)
NM_152564.5(VPS13B):c.7299A>G (p.Pro2433=) rs2130668083
NM_152564.5(VPS13B):c.7302A>G (p.Thr2434=) rs1811764109
NM_152564.5(VPS13B):c.7305C>T (p.Ala2435=)
NM_152564.5(VPS13B):c.7306C>T (p.Leu2436=)
NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=)
NM_152564.5(VPS13B):c.7311T>G (p.Ala2437=) rs2130668146
NM_152564.5(VPS13B):c.7326T>A (p.Val2442=) rs2130668217
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=)
NM_152564.5(VPS13B):c.7329C>T (p.Asp2443=) rs2130668225
NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=)
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=)
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=) rs1232917163
NM_152564.5(VPS13B):c.735A>G (p.Leu245=)
NM_152564.5(VPS13B):c.7362T>C (p.Leu2454=) rs2130668372
NM_152564.5(VPS13B):c.7362T>G (p.Leu2454=)
NM_152564.5(VPS13B):c.7374C>T (p.Phe2458=)
NM_152564.5(VPS13B):c.738T>C (p.Asn246=)
NM_152564.5(VPS13B):c.7395C>T (p.Phe2465=) rs2130668529
NM_152564.5(VPS13B):c.7410C>T (p.His2470=)
NM_152564.5(VPS13B):c.7416C>T (p.Asp2472=)
NM_152564.5(VPS13B):c.7422A>C (p.Leu2474=)
NM_152564.5(VPS13B):c.7429+11T>C rs1811770416
NM_152564.5(VPS13B):c.7429+13T>A
NM_152564.5(VPS13B):c.7429+14del
NM_152564.5(VPS13B):c.7429+15A>T rs1002318603
NM_152564.5(VPS13B):c.7429+17C>G
NM_152564.5(VPS13B):c.7429+17C>T
NM_152564.5(VPS13B):c.7429+18A>C rs374929892
NM_152564.5(VPS13B):c.7429+7T>C rs2130668728
NM_152564.5(VPS13B):c.7430-13_7430-10del rs1194238958
NM_152564.5(VPS13B):c.7430-14T>C
NM_152564.5(VPS13B):c.7430-17G>C
NM_152564.5(VPS13B):c.7430-7T>G
NM_152564.5(VPS13B):c.7437A>G (p.Pro2479=)
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=)
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=)
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=) rs990040393
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=)
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=) rs2130678510
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=) rs2130678548
NM_152564.5(VPS13B):c.7518C>T (p.His2506=)
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=)
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=)
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=) rs2130678759
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=) rs1811868664
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=)
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=) rs776907826
NM_152564.5(VPS13B):c.7599G>A (p.Glu2533=)
NM_152564.5(VPS13B):c.75T>C (p.Asp25=)
NM_152564.5(VPS13B):c.7603A>C (p.Arg2535=) rs2130678967
NM_152564.5(VPS13B):c.762+11C>T
NM_152564.5(VPS13B):c.762+11_762+12insA
NM_152564.5(VPS13B):c.762+5_762+6dup rs2132482179
NM_152564.5(VPS13B):c.762+7A>G
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=)
NM_152564.5(VPS13B):c.763-18G>A
NM_152564.5(VPS13B):c.763-20A>G
NM_152564.5(VPS13B):c.763-5T>C rs1847622951
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=)
NM_152564.5(VPS13B):c.7659A>G (p.Ala2553=) rs776995646
NM_152564.5(VPS13B):c.7659A>T (p.Ala2553=) rs776995646
NM_152564.5(VPS13B):c.7665C>T (p.Ser2555=) rs2130679322
NM_152564.5(VPS13B):c.7671T>C (p.Asp2557=) rs1414554416
NM_152564.5(VPS13B):c.7677G>A (p.Val2559=) rs373165767
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=)
NM_152564.5(VPS13B):c.7684C>T (p.Leu2562=) rs1001869077
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=) rs2130679519
NM_152564.5(VPS13B):c.7692C>T (p.Asp2564=)
NM_152564.5(VPS13B):c.7713T>C (p.Ser2571=)
NM_152564.5(VPS13B):c.7713T>G (p.Ser2571=)
NM_152564.5(VPS13B):c.7728T>C (p.Leu2576=)
NM_152564.5(VPS13B):c.7731A>G (p.Gly2577=) rs921182844
NM_152564.5(VPS13B):c.7740A>C (p.Val2580=) rs1281733005
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=)
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=)
NM_152564.5(VPS13B):c.7779+8C>T
NM_152564.5(VPS13B):c.7779+9A>G
NM_152564.5(VPS13B):c.777G>C (p.Val259=) rs2132497634
NM_152564.5(VPS13B):c.7780-16A>G
NM_152564.5(VPS13B):c.7780-18G>A rs781012951
NM_152564.5(VPS13B):c.7780-22_7780-19del
NM_152564.5(VPS13B):c.7780-7C>T
NM_152564.5(VPS13B):c.7780-8T>C
NM_152564.5(VPS13B):c.7780-9T>C rs1177759534
NM_152564.5(VPS13B):c.7797A>G (p.Val2599=) rs760168037
NM_152564.5(VPS13B):c.7815C>T (p.Ser2605=)
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=) rs1229910112
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=)
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=) rs2130702451
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=)
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=) rs779101063
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=)
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=)
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=)
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=)
NM_152564.5(VPS13B):c.7896T>C (p.Ser2632=) rs1563916146
NM_152564.5(VPS13B):c.7911G>A (p.Gln2637=) rs2130702705
NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=) rs2130702727
NM_152564.5(VPS13B):c.7926T>A (p.Ser2642=)
NM_152564.5(VPS13B):c.7926T>C (p.Ser2642=)
NM_152564.5(VPS13B):c.7929C>T (p.His2643=) rs2130702779
NM_152564.5(VPS13B):c.7941+12A>G rs1275998375
NM_152564.5(VPS13B):c.7941+15C>A
NM_152564.5(VPS13B):c.7941+16C>A rs1484297251
NM_152564.5(VPS13B):c.7941+18T>A
NM_152564.5(VPS13B):c.7941+18T>C
NM_152564.5(VPS13B):c.7941+20_7941+42del rs769286340
NM_152564.5(VPS13B):c.7941+7G>C rs764563210
NM_152564.5(VPS13B):c.7941+9G>A
NM_152564.5(VPS13B):c.7942-12T>C
NM_152564.5(VPS13B):c.7942-16T>C
NM_152564.5(VPS13B):c.7942-4C>G
NM_152564.5(VPS13B):c.7942-8T>G
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=) rs2130785637
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=) rs758430817
NM_152564.5(VPS13B):c.7980T>A (p.Arg2660=)
NM_152564.5(VPS13B):c.7980T>C (p.Arg2660=)
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=)
NM_152564.5(VPS13B):c.7986A>G (p.Ser2662=) rs2130785744
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=)
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=)
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=)
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=)
NM_152564.5(VPS13B):c.8049T>A (p.Thr2683=) rs765550072
NM_152564.5(VPS13B):c.8058C>T (p.Leu2686=) rs1813589023
NM_152564.5(VPS13B):c.8070T>C (p.Val2690=) rs2130785985
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=) rs2130785995
NM_152564.5(VPS13B):c.807A>G (p.Gln269=) rs775213704
NM_152564.5(VPS13B):c.8097+12del
NM_152564.5(VPS13B):c.8097+18C>G
NM_152564.5(VPS13B):c.8097+20T>C
NM_152564.5(VPS13B):c.8097+7T>G
NM_152564.5(VPS13B):c.8098-19A>G
NM_152564.5(VPS13B):c.8098-7C>T
NM_152564.5(VPS13B):c.8098-8T>A
NM_152564.5(VPS13B):c.8098-9G>A
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=)
NM_152564.5(VPS13B):c.810A>G (p.Gln270=) rs1169945660
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=)
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=)
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=) rs373348061
NM_152564.5(VPS13B):c.816T>C (p.Pro272=)
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=)
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=) rs2130810840
NM_152564.5(VPS13B):c.8247C>T (p.Tyr2749=)
NM_152564.5(VPS13B):c.8250A>C (p.Ile2750=)
NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=)
NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=)
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=)
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=)
NM_152564.5(VPS13B):c.8274G>A (p.Glu2758=) rs2130810962
NM_152564.5(VPS13B):c.8277G>A (p.Leu2759=)
NM_152564.5(VPS13B):c.8277G>C (p.Leu2759=) rs1232285251
NM_152564.5(VPS13B):c.8292A>G (p.Lys2764=) rs2130810986
NM_152564.5(VPS13B):c.8298T>C (p.Asp2766=) rs1563488890
NM_152564.5(VPS13B):c.8313A>G (p.Arg2771=)
NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=)
NM_152564.5(VPS13B):c.8319G>A (p.Val2773=) rs2130811053
NM_152564.5(VPS13B):c.8323C>T (p.Leu2775=) rs1814130701
NM_152564.5(VPS13B):c.8337C>A (p.Ala2779=) rs1177301291
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=)
NM_152564.5(VPS13B):c.8352T>C (p.Ile2784=)
NM_152564.5(VPS13B):c.8355C>T (p.Val2785=)
NM_152564.5(VPS13B):c.8361+15T>C
NM_152564.5(VPS13B):c.8361+18A>G rs1301774020
NM_152564.5(VPS13B):c.8361+20C>G
NM_152564.5(VPS13B):c.8362-5_8362-4del rs2130812960
NM_152564.5(VPS13B):c.8362-6G>A rs1294053663
NM_152564.5(VPS13B):c.8362-6G>T rs1294053663
NM_152564.5(VPS13B):c.8362-8A>C rs767065362
NM_152564.5(VPS13B):c.8362-8A>G rs767065362
NM_152564.5(VPS13B):c.8362-8A>T rs767065362
NM_152564.5(VPS13B):c.8367A>G (p.Pro2789=)
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=) rs1350773456
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=)
NM_152564.5(VPS13B):c.840T>G (p.Leu280=)
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=) rs1252949783
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=)
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=) rs773210498
NM_152564.5(VPS13B):c.8445+13C>T
NM_152564.5(VPS13B):c.8445+14C>T rs1814177467
NM_152564.5(VPS13B):c.8445+15A>C
NM_152564.5(VPS13B):c.8445+16A>G
NM_152564.5(VPS13B):c.8445+7G>A rs2130813249
NM_152564.5(VPS13B):c.8445+8C>G
NM_152564.5(VPS13B):c.8446-10A>C
NM_152564.5(VPS13B):c.8446-10_8446-6del rs773159446
NM_152564.5(VPS13B):c.8446-16C>A
NM_152564.5(VPS13B):c.8446-18A>G
NM_152564.5(VPS13B):c.8446-18_8446-14del rs767236603
NM_152564.5(VPS13B):c.8446-20C>A
NM_152564.5(VPS13B):c.8446-6T>G
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=)
NM_152564.5(VPS13B):c.8490C>T (p.Asp2830=) rs1814194580
NM_152564.5(VPS13B):c.8493C>G (p.Pro2831=)
NM_152564.5(VPS13B):c.8493C>T (p.Pro2831=)
NM_152564.5(VPS13B):c.849T>C (p.Ala283=) rs1563549019
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=) rs2130813974
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=) rs778838868
NM_152564.5(VPS13B):c.8550A>G (p.Pro2850=) rs1052125514
NM_152564.5(VPS13B):c.8553A>G (p.Gly2851=)
NM_152564.5(VPS13B):c.8556A>G (p.Lys2852=)
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=) rs1256482530
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=)
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=)
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=)
NM_152564.5(VPS13B):c.8604C>T (p.His2868=) rs2130814192
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=) rs2130814206
NM_152564.5(VPS13B):c.861A>C (p.Gly287=) rs2132497926
NM_152564.5(VPS13B):c.861A>G (p.Gly287=)
NM_152564.5(VPS13B):c.8621+14C>A
NM_152564.5(VPS13B):c.8621+15C>T
NM_152564.5(VPS13B):c.8621+20A>G
NM_152564.5(VPS13B):c.8622-10A>C
NM_152564.5(VPS13B):c.8622-11C>A
NM_152564.5(VPS13B):c.8622-6T>G
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=) rs776161364
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=) rs2130815899
NM_152564.5(VPS13B):c.8637T>G (p.Pro2879=)
NM_152564.5(VPS13B):c.8643T>C (p.Asp2881=)
NM_152564.5(VPS13B):c.8646T>C (p.Cys2882=)
NM_152564.5(VPS13B):c.8655C>T (p.Pro2885=)
NM_152564.5(VPS13B):c.8664A>G (p.Thr2888=) rs760964711
NM_152564.5(VPS13B):c.8667C>T (p.Ser2889=) rs1814238060
NM_152564.5(VPS13B):c.8694A>T (p.Val2898=)
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=) rs1588744960
NM_152564.5(VPS13B):c.8706C>T (p.Gly2902=) rs2130816101
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=) rs765352584
NM_152564.5(VPS13B):c.8709A>T (p.Thr2903=)
NM_152564.5(VPS13B):c.870C>A (p.Gly290=) rs757250316
NM_152564.5(VPS13B):c.8718G>A (p.Gln2906=)
NM_152564.5(VPS13B):c.8721C>A (p.Ile2907=)
NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=)
NM_152564.5(VPS13B):c.8730A>G (p.Glu2910=) rs1814241089
NM_152564.5(VPS13B):c.8733C>T (p.Phe2911=)
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=) rs797046097
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=)
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val) rs779095081
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=) rs775883776
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=)
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=)
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=) rs1588745102
NM_152564.5(VPS13B):c.8790C>T (p.Asp2930=)
NM_152564.5(VPS13B):c.8792+11T>C
NM_152564.5(VPS13B):c.8792+14G>C
NM_152564.5(VPS13B):c.8792+15T>C
NM_152564.5(VPS13B):c.8792+17A>G
NM_152564.5(VPS13B):c.8792+19C>G rs2130816510
NM_152564.5(VPS13B):c.8792+7T>C
NM_152564.5(VPS13B):c.8793-16G>T
NM_152564.5(VPS13B):c.8793-19G>A
NM_152564.5(VPS13B):c.8793-6del rs756641209
NM_152564.5(VPS13B):c.8793-8T>C rs1563490351
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=) rs1814270562
NM_152564.5(VPS13B):c.87A>G (p.Ser29=) rs1190769527
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=) rs755996065
NM_152564.5(VPS13B):c.882A>G (p.Glu294=)
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=) rs753585905
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=) rs2130817562
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=)
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=)
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=)
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=)
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=)
NM_152564.5(VPS13B):c.8886C>T (p.Pro2962=)
NM_152564.5(VPS13B):c.8893C>T (p.Leu2965=)
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=) rs1423890336
NM_152564.5(VPS13B):c.8898T>C (p.Leu2966=) rs1814274543
NM_152564.5(VPS13B):c.8926C>T (p.Leu2976=) rs1814275656
NM_152564.5(VPS13B):c.8928A>G (p.Leu2976=) rs1814275776
NM_152564.5(VPS13B):c.8937A>G (p.Gly2979=)
NM_152564.5(VPS13B):c.8955G>A (p.Gln2985=)
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=) rs2130817807
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=)
NM_152564.5(VPS13B):c.8994+10del
NM_152564.5(VPS13B):c.8994+14T>C
NM_152564.5(VPS13B):c.8994+16dup
NM_152564.5(VPS13B):c.8994+18A>G
NM_152564.5(VPS13B):c.8994+20T>G
NM_152564.5(VPS13B):c.8995-10A>C
NM_152564.5(VPS13B):c.8995-13A>C
NM_152564.5(VPS13B):c.8995-13A>T
NM_152564.5(VPS13B):c.8995-14C>G
NM_152564.5(VPS13B):c.8995-14C>T
NM_152564.5(VPS13B):c.8995-16G>A
NM_152564.5(VPS13B):c.8995-16G>T
NM_152564.5(VPS13B):c.8995-20T>A
NM_152564.5(VPS13B):c.8995-20T>C
NM_152564.5(VPS13B):c.8995-4C>T rs2130821868
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=) rs2130821884
NM_152564.5(VPS13B):c.900T>A (p.Leu300=) rs2132498081
NM_152564.5(VPS13B):c.900T>G (p.Leu300=) rs2132498081
NM_152564.5(VPS13B):c.9033C>T (p.Asn3011=) rs1814357255
NM_152564.5(VPS13B):c.9036T>C (p.Thr3012=)
NM_152564.5(VPS13B):c.9048A>C (p.Ser3016=)
NM_152564.5(VPS13B):c.9048A>G (p.Ser3016=) rs764745288
NM_152564.5(VPS13B):c.9057T>C (p.Ile3019=) rs1338076915
NM_152564.5(VPS13B):c.9063G>C (p.Leu3021=)
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=)
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=)
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=)
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=) rs2130822258
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=)
NM_152564.5(VPS13B):c.9183+15T>C
NM_152564.5(VPS13B):c.9183+20G>T
NM_152564.5(VPS13B):c.9183+8C>G rs2130822390
NM_152564.5(VPS13B):c.9184-10T>C rs2130828647
NM_152564.5(VPS13B):c.9184-15T>C
NM_152564.5(VPS13B):c.9184-9A>G rs2130828655
NM_152564.5(VPS13B):c.9184-9A>T
NM_152564.5(VPS13B):c.9184-9_9184-5del
NM_152564.5(VPS13B):c.918T>C (p.Asp306=) rs2132498147
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=)
NM_152564.5(VPS13B):c.9222T>A (p.Gly3074=)
NM_152564.5(VPS13B):c.9231T>C (p.Ile3077=) rs958907037
NM_152564.5(VPS13B):c.9234T>C (p.Ile3078=) rs2130828791
NM_152564.5(VPS13B):c.9240T>C (p.Ile3080=) rs1814518647
NM_152564.5(VPS13B):c.9255A>G (p.Thr3085=) rs2130828848
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=)
NM_152564.5(VPS13B):c.9273A>G (p.Pro3091=) rs1345326650
NM_152564.5(VPS13B):c.9276T>C (p.Tyr3092=) rs2130828917
NM_152564.5(VPS13B):c.9294A>C (p.Pro3098=)
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=) rs143974238
NM_152564.5(VPS13B):c.9300A>T (p.Leu3100=) rs143974238
NM_152564.5(VPS13B):c.9306C>T (p.Val3102=)
NM_152564.5(VPS13B):c.9309C>T (p.Cys3103=)
NM_152564.5(VPS13B):c.9312T>C (p.Asn3104=)
NM_152564.5(VPS13B):c.9318T>C (p.His3106=) rs1814523122
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=)
NM_152564.5(VPS13B):c.9330+12A>G
NM_152564.5(VPS13B):c.9330+13T>C
NM_152564.5(VPS13B):c.9330+16C>A
NM_152564.5(VPS13B):c.9330+16C>G
NM_152564.5(VPS13B):c.9330+16C>T
NM_152564.5(VPS13B):c.9330+17G>T
NM_152564.5(VPS13B):c.9330+8A>T
NM_152564.5(VPS13B):c.9331-10T>C
NM_152564.5(VPS13B):c.9331-12_9331-3del rs370235149
NM_152564.5(VPS13B):c.9331-14_9331-3del
NM_152564.5(VPS13B):c.9331-15_9331-3del
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTGTTTTTT
NM_152564.5(VPS13B):c.9331-4T>G rs2130857623
NM_152564.5(VPS13B):c.9331-5T>C
NM_152564.5(VPS13B):c.9331-9T>G
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=)
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs) rs754443525
NM_152564.5(VPS13B):c.9345A>G (p.Pro3115=) rs2130857838
NM_152564.5(VPS13B):c.9348C>T (p.Asp3116=) rs2130857844
NM_152564.5(VPS13B):c.9354T>A (p.Ala3118=)
NM_152564.5(VPS13B):c.937+10A>T
NM_152564.5(VPS13B):c.937+15T>A
NM_152564.5(VPS13B):c.937+16A>G
NM_152564.5(VPS13B):c.937+7T>C
NM_152564.5(VPS13B):c.938-13T>C rs751563657
NM_152564.5(VPS13B):c.938-17T>C
NM_152564.5(VPS13B):c.938-17T>G
NM_152564.5(VPS13B):c.938-17_938-16del
NM_152564.5(VPS13B):c.938-19A>G
NM_152564.5(VPS13B):c.938-9A>G
NM_152564.5(VPS13B):c.9381G>A (p.Glu3127=)
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=) rs267601673
NM_152564.5(VPS13B):c.939T>C (p.Gly313=) rs2132515681
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=) rs2130858063
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=)
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=) rs2130858097
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=) rs2130858135
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=) rs1419669701
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=) rs36074608
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=)
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=)
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=) rs1448281466
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=)
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=)
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=)
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=)
NM_152564.5(VPS13B):c.9567T>C (p.Ser3189=) rs2130858392
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=) rs2130858423
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=)
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=) rs2130858464
NM_152564.5(VPS13B):c.9609T>C (p.Cys3203=) rs533207610
NM_152564.5(VPS13B):c.9612C>G (p.Thr3204=) rs2130858506
NM_152564.5(VPS13B):c.9614+8_9614+10del
NM_152564.5(VPS13B):c.9614+8_9614+9del
NM_152564.5(VPS13B):c.9615-12A>G
NM_152564.5(VPS13B):c.9615-14T>G
NM_152564.5(VPS13B):c.9615-15T>C
NM_152564.5(VPS13B):c.9615-16C>T
NM_152564.5(VPS13B):c.9615-17A>T
NM_152564.5(VPS13B):c.9627G>A (p.Leu3209=)
NM_152564.5(VPS13B):c.9630A>C (p.Thr3210=)
NM_152564.5(VPS13B):c.9630A>G (p.Thr3210=)
NM_152564.5(VPS13B):c.9633T>C (p.Tyr3211=) rs980028099
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=) rs2130865492
NM_152564.5(VPS13B):c.9693T>C (p.Ile3231=) rs2130865538
NM_152564.5(VPS13B):c.9696C>A (p.Ile3232=) rs1348521177
NM_152564.5(VPS13B):c.9696C>T (p.Ile3232=) rs1348521177
NM_152564.5(VPS13B):c.9703A>C (p.Arg3235=)
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=)
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=)
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=)
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=) rs766177887
NM_152564.5(VPS13B):c.9742+13C>G rs112919682
NM_152564.5(VPS13B):c.9742+15A>G
NM_152564.5(VPS13B):c.9742+16T>C
NM_152564.5(VPS13B):c.9742+17C>T
NM_152564.5(VPS13B):c.9742+8T>A rs2130865683
NM_152564.5(VPS13B):c.9743-10A>T
NM_152564.5(VPS13B):c.9743-16T>G
NM_152564.5(VPS13B):c.9743-17C>T
NM_152564.5(VPS13B):c.9743-4T>G rs1450351706
NM_152564.5(VPS13B):c.9743-8A>C
NM_152564.5(VPS13B):c.9743-9A>T rs2130866268
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=)
NM_152564.5(VPS13B):c.975T>G (p.Pro325=) rs1554625544
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=) rs1203586505
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=)
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=)
NM_152564.5(VPS13B):c.9807G>A (p.Leu3269=)
NM_152564.5(VPS13B):c.981G>A (p.Gln327=)
NM_152564.5(VPS13B):c.9822C>T (p.Ser3274=)
NM_152564.5(VPS13B):c.9828T>C (p.Tyr3276=)
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=)
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=)
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=)
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=) rs2130866834
NM_152564.5(VPS13B):c.993A>G (p.Gln331=)
NM_152564.5(VPS13B):c.9942+12A>G
NM_152564.5(VPS13B):c.9942+17T>A
NM_152564.5(VPS13B):c.9942+20C>T rs1490242319
NM_152564.5(VPS13B):c.9942+7G>A
NM_152564.5(VPS13B):c.9942+7G>C rs528134335
NM_152564.5(VPS13B):c.9942+9G>A rs942110632
NM_152564.5(VPS13B):c.9943-11T>C
NM_152564.5(VPS13B):c.9943-11T>G rs1816110809
NM_152564.5(VPS13B):c.9943-17G>T
NM_152564.5(VPS13B):c.9943-4G>T rs2130902382
NM_152564.5(VPS13B):c.9943-7T>C
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=)
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=)
NM_152564.5(VPS13B):c.997T>C (p.Leu333=)
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=)
NM_152564.5(VPS13B):c.9G>A (p.Glu3=)
NM_183235.3(RAB27A):c.*1493T>A rs149948399
NM_183235.3(RAB27A):c.-142-65C>G rs150033129
NM_183235.3(RAB27A):c.153+14C>A
NM_183235.3(RAB27A):c.154-7G>A
NM_183235.3(RAB27A):c.154-7G>C
NM_183235.3(RAB27A):c.15T>C (p.Asp5=) rs952920589
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.174G>A (p.Pro58=) rs910190895
NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.239+19T>C rs1481724263
NM_183235.3(RAB27A):c.239+9T>A
NM_183235.3(RAB27A):c.239+9T>C
NM_183235.3(RAB27A):c.240-17T>G
NM_183235.3(RAB27A):c.240-5C>T rs750942183
NM_183235.3(RAB27A):c.240-6T>G rs1895913515
NM_183235.3(RAB27A):c.240-8G>A rs928130000
NM_183235.3(RAB27A):c.240-9T>C rs758629648
NM_183235.3(RAB27A):c.255G>A (p.Thr85=) rs147130708
NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
NM_183235.3(RAB27A):c.289C>T (p.Leu97=) rs1354193730
NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
NM_183235.3(RAB27A):c.342A>T (p.Ile114=) rs1895903776
NM_183235.3(RAB27A):c.343+10A>G
NM_183235.3(RAB27A):c.343+11T>C
NM_183235.3(RAB27A):c.343+17C>T
NM_183235.3(RAB27A):c.344-7T>C
NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
NM_183235.3(RAB27A):c.468-14T>C
NM_183235.3(RAB27A):c.468-7C>A
NM_183235.3(RAB27A):c.489T>C (p.Ser163=) rs2140891719
NM_183235.3(RAB27A):c.519A>G (p.Ala173=) rs1566893120
NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
NM_183235.3(RAB27A):c.593T>C (p.Val198Ala) rs554967424
NM_183235.3(RAB27A):c.597G>A (p.Val199=) rs1894604106
NM_183235.3(RAB27A):c.612T>C (p.His204=)
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)

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