ClinVar Miner

List of variants reported as uncertain significance for leukopenia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4951
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys) rs374991345 0.03070
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00051
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_000081.4(LYST):c.6682G>C (p.Asp2228His) rs150270086 0.00042
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala) rs139760966 0.00039
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) rs3917997 0.00037
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu) rs200662873 0.00036
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) rs375162061 0.00036
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_138387.4(G6PC3):c.1006A>C (p.Ser336Arg) rs141431274 0.00035
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile) rs528303671 0.00031
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg) rs200059719 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_000760.4(CSF3R):c.1510G>A (p.Val504Met) rs145256322 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu) rs138565077 0.00021
NM_001972.4(ELANE):c.431G>A (p.Arg144His) rs142441575 0.00020
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318 0.00019
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) rs782059726 0.00019
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092 0.00019
NM_000081.4(LYST):c.595G>A (p.Asp199Asn) rs552391792 0.00018
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln) rs748374112 0.00017
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) rs759506026 0.00016
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys) rs398124326 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_152564.5(VPS13B):c.4746-3C>A rs199884841 0.00016
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp) rs144946000 0.00016
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) rs746747614 0.00015
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln) rs201349007 0.00015
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe) rs774565889 0.00015
NM_000081.4(LYST):c.9473A>G (p.Asn3158Ser) rs143618409 0.00014
NM_001972.4(ELANE):c.428G>A (p.Arg143His) rs200993994 0.00014
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) rs112990855 0.00014
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) rs151292369 0.00014
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln) rs142968690 0.00014
NM_007259.5(VPS45):c.614G>A (p.Arg205His) rs146660821 0.00014
NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys) rs201700844 0.00014
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser) rs199741560 0.00014
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala) rs780702951 0.00014
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993 0.00014
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln) rs558162561 0.00013
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val) rs751683762 0.00013
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) rs200327756 0.00013
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=) rs200691718 0.00013
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu) rs139732310 0.00013
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp) rs144492641 0.00013
NM_000081.4(LYST):c.8151T>C (p.Ile2717=) rs201045270 0.00012
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) rs376042061 0.00012
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) rs587646859 0.00012
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00012
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys) rs375652507 0.00012
NM_152564.5(VPS13B):c.5612C>A (p.Thr1871Lys) rs920484397 0.00012
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys) rs143787982 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.4513A>G (p.Ile1505Val) rs756527927 0.00011
NM_000760.4(CSF3R):c.142A>G (p.Ile48Val) rs1047054210 0.00011
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156 0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_001972.4(ELANE):c.472C>G (p.Leu158Val) rs535990034 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly) rs781801888 0.00011
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys) rs146967886 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe) rs760792770 0.00011
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile) rs151247807 0.00011
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser) rs201587931 0.00011
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly) rs142217102 0.00011
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro) rs377102404 0.00010
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys) rs569831771 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) rs201961347 0.00010
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe) rs1085307624 0.00010
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800 0.00010
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) rs373735080 0.00010
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00010
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His) rs186644576 0.00010
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys) rs374072699 0.00010
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His) rs587780498 0.00010
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys) rs376296532 0.00010
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser) rs778256097 0.00010
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn) rs138179493 0.00009
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu) rs1413246726 0.00009
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln) rs369185176 0.00009
NM_000760.4(CSF3R):c.1096G>A (p.Gly366Arg) rs768170625 0.00009
NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val) rs766343562 0.00009
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln) rs375350474 0.00009
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397 0.00009
NM_003664.5(AP3B1):c.604-3T>C rs754016521 0.00009
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) rs533176227 0.00009
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu) rs370035886 0.00009
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) rs754191323 0.00009
NM_032492.4(JAGN1):c.89+4T>C rs571856698 0.00009
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) rs750355531 0.00009
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg) rs531619892 0.00009
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly) rs759332797 0.00009
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala) rs374124369 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val) rs369100428 0.00009
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser) rs201284258 0.00009
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met) rs139025012 0.00009
NM_000081.4(LYST):c.7627+6A>T rs749282192 0.00008
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) rs34362628 0.00008
NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr) rs769045336 0.00008
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) rs565088221 0.00008
NM_003467.3(CXCR4):c.16-14T>A rs1053292586 0.00008
NM_003467.3(CXCR4):c.506T>C (p.Ile169Thr) rs371317659 0.00008
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His) rs765852823 0.00008
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871 0.00008
NM_005263.5(GFI1):c.532G>A (p.Gly178Arg) rs768183366 0.00008
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu) rs141512965 0.00008
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg) rs762421764 0.00008
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr) rs138000928 0.00008
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg) rs371961155 0.00008
NM_152564.5(VPS13B):c.560G>A (p.Arg187His) rs150941426 0.00008
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro) rs199559979 0.00008
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) rs763953521 0.00007
NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn) rs147017250 0.00007
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_001972.4(ELANE):c.68-13G>A rs371409487 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404 0.00007
NM_005263.5(GFI1):c.49C>G (p.Gln17Glu) rs750251158 0.00007
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp) rs200890522 0.00007
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu) rs201002467 0.00007
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln) rs370166172 0.00007
NM_007259.5(VPS45):c.571G>A (p.Val191Ile) rs200783288 0.00007
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu) rs143187571 0.00007
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His) rs558917637 0.00007
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln) rs147907236 0.00007
NM_152564.5(VPS13B):c.329G>A (p.Arg110His) rs61754110 0.00007
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val) rs570925076 0.00007
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) rs552843068 0.00007
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val) rs368362777 0.00007
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp) rs376283724 0.00007
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val) rs145265055 0.00007
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His) rs141408531 0.00007
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln) rs376311093 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His) rs564880597 0.00006
NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser) rs1434097987 0.00006
NM_000760.4(CSF3R):c.353G>A (p.Arg118His) rs923298829 0.00006
NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser) rs949262067 0.00006
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_003467.3(CXCR4):c.704G>A (p.Arg235His) rs377287446 0.00006
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser) rs774098325 0.00006
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn) rs370362655 0.00006
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile) rs372847987 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys) rs140209190 0.00006
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr) rs751922416 0.00006
NM_005263.5(GFI1):c.314T>A (p.Met105Lys) rs201301010 0.00006
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) rs139992347 0.00006
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) rs1315600520 0.00006
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr) rs140585667 0.00006
NM_138387.4(G6PC3):c.169G>A (p.Val57Met) rs150477295 0.00006
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys) rs202238577 0.00006
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His) rs150464408 0.00006
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys) rs727504216 0.00006
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys) rs180177372 0.00006
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn) rs1419202718 0.00006
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn) rs771105877 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile) rs200519753 0.00006
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe) rs367999029 0.00006
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) rs148047632 0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) rs371500701 0.00006
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val) rs745651556 0.00006
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly) rs749751670 0.00006
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp) rs551933357 0.00006
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser) rs201363767 0.00006
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg) rs754632431 0.00006
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly) rs140061281 0.00006
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr) rs189689493 0.00006
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu) rs141138612 0.00006
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896 0.00006
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu) rs538323738 0.00006
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723 0.00006
NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp) rs1210017547 0.00006
NM_000760.4(CSF3R):c.1726G>A (p.Ala576Thr) rs373888342 0.00005
NM_000760.4(CSF3R):c.568C>T (p.Arg190Cys) rs757569036 0.00005
NM_000760.4(CSF3R):c.648A>C (p.Gln216His) rs747021516 0.00005
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) rs782475284 0.00005
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) rs377698556 0.00005
NM_001972.4(ELANE):c.637C>T (p.His213Tyr) rs201326533 0.00005
NM_003467.3(CXCR4):c.582G>C (p.Leu194Phe) rs769772228 0.00005
NM_003467.3(CXCR4):c.748G>A (p.Ala250Thr) rs771851938 0.00005
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His) rs777268122 0.00005
NM_005263.5(GFI1):c.736A>G (p.Thr246Ala) rs764922701 0.00005
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys) rs765780829 0.00005
NM_006118.4(HAX1):c.725G>A (p.Arg242Gln) rs763822514 0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp) rs780000169 0.00005
NM_007259.5(VPS45):c.687G>C (p.Gln229His) rs200019200 0.00005
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr) rs868118584 0.00005
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg) rs779751988 0.00005
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His) rs773472945 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp) rs117357319 0.00005
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile) rs138577821 0.00005
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe) rs763052877 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser) rs141275433 0.00005
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser) rs764775015 0.00005
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu) rs183874686 0.00005
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser) rs199528303 0.00005
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser) rs368357351 0.00005
NM_000081.4(LYST):c.110C>T (p.Thr37Met) rs375106444 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.1290G>A (p.Met430Ile) rs779163460 0.00004
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.1541G>A (p.Arg514Gln) rs564745712 0.00004
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala) rs559751044 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu) rs756651685 0.00004
NM_000081.4(LYST):c.6737T>G (p.Leu2246Arg) rs200231136 0.00004
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr) rs759733310 0.00004
NM_000081.4(LYST):c.9616G>C (p.Asp3206His) rs746911004 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760 0.00004
NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser) rs374610386 0.00004
NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg) rs766274573 0.00004
NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) rs756719784 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) rs199991273 0.00004
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr) rs863224212 0.00004
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00004
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00004
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe) rs782616313 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001164277.2(SLC37A4):c.785+3A>G rs373543021 0.00004
NM_001972.4(ELANE):c.565C>A (p.Leu189Ile) rs200592180 0.00004
NM_001972.4(ELANE):c.568G>A (p.Val190Met) rs367663236 0.00004
NM_001972.4(ELANE):c.658C>T (p.Arg220Trp) rs538571617 0.00004
NM_001972.4(ELANE):c.70A>C (p.Thr24Pro) rs367677280 0.00004
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr) rs1032054339 0.00004
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser) rs796196281 0.00004
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val) rs145162631 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) rs1234266152 0.00004
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg) rs28936382 0.00004
NM_005263.5(GFI1):c.391G>A (p.Asp131Asn) rs750742235 0.00004
NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) rs528437159 0.00004
NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) rs1426616222 0.00004
NM_005263.5(GFI1):c.662T>A (p.Leu221Gln) rs370626442 0.00004
NM_005263.5(GFI1):c.673C>T (p.Arg225Cys) rs758843797 0.00004
NM_005263.5(GFI1):c.713A>G (p.Lys238Arg) rs757156744 0.00004
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg) rs775151292 0.00004
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp) rs367673863 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile) rs747655324 0.00004
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys) rs376954713 0.00004
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile) rs759636820 0.00004
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val) rs377495463 0.00004
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) rs946155355 0.00004
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) rs148030756 0.00004
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile) rs369258469 0.00004
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr) rs149659649 0.00004
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys) rs370172252 0.00004
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp) rs779427167 0.00004
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln) rs987017060 0.00004
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys) rs369891888 0.00004
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val) rs563261178 0.00004
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile) rs1187769339 0.00004
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser) rs749312835 0.00004
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp) rs369930405 0.00004
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala) rs372625091 0.00004
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly) rs368595026 0.00004
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala) rs398124329 0.00004
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr) rs796181999 0.00004
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met) rs199574731 0.00004
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly) rs112858205 0.00004
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg) rs146195479 0.00004
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys) rs201872788 0.00004
NM_152564.5(VPS13B):c.2673G>T (p.Leu891Phe) rs770484465 0.00004
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=) rs199881514 0.00004
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser) rs370336663 0.00004
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494 0.00004
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val) rs764040349 0.00004
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met) rs778388170 0.00004
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly) rs374363141 0.00004
NM_152564.5(VPS13B):c.4157+5A>G rs201027029 0.00004
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser) rs764653250 0.00004
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe) rs61754112 0.00004
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly) rs1288339042 0.00004
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu) rs965365158 0.00004
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile) rs529286193 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) rs755227174 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn) rs760882381 0.00004
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr) rs779082817 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu) rs369932118 0.00004
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp) rs781460252 0.00004
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser) rs750125340 0.00004
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val) rs761504023 0.00004
NM_152564.5(VPS13B):c.7291G>A (p.Val2431Met) rs138405323 0.00004
NM_152564.5(VPS13B):c.7429+4C>A rs757079639 0.00004
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys) rs371325199 0.00004
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His) rs770344131 0.00004
NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu) rs775768806 0.00004
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln) rs544366805 0.00004
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val) rs1314210823 0.00004
NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile) rs369777755 0.00004
NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn) rs183582444 0.00004
NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr) rs143719577 0.00004
NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala) rs200031368 0.00004
NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn) rs777995262 0.00004
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993 0.00004
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.7997T>A (p.Ile2666Asn) rs369246831 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) rs764345289 0.00003
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) rs372972496 0.00003
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) rs762191036 0.00003
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) rs201037400 0.00003
NM_000760.4(CSF3R):c.923G>A (p.Arg308His) rs148747030 0.00003
NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys) rs748394788 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483 0.00003
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro) rs886042302 0.00003
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) rs755088297 0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile) rs201313263 0.00003
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln) rs202234596 0.00003
NM_003467.3(CXCR4):c.250G>C (p.Asp84His) rs368016542 0.00003
NM_003664.5(AP3B1):c.1168-3T>C rs751674819 0.00003
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met) rs556341477 0.00003
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp) rs758616866 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003664.5(AP3B1):c.279+6G>A rs1269853831 0.00003
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) rs746992047 0.00003
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys) rs748972774 0.00003
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly) rs756321242 0.00003
NM_003664.5(AP3B1):c.877A>G (p.Met293Val) rs538390986 0.00003
NM_005263.5(GFI1):c.187G>A (p.Glu63Lys) rs527842565 0.00003
NM_005263.5(GFI1):c.617C>T (p.Ala206Val) rs368471074 0.00003
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln) rs139138892 0.00003
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln) rs782749137 0.00003
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) rs768937406 0.00003
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser) rs200023062 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_138387.4(G6PC3):c.413G>A (p.Arg138His) rs763535974 0.00003
NM_138387.4(G6PC3):c.574A>G (p.Met192Val) rs774843962 0.00003
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln) rs759401453 0.00003
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) rs768565958 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys) rs1219748926 0.00003
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile) rs781253026 0.00003
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile) rs750693109 0.00003
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu) rs771376605 0.00003
NM_152564.5(VPS13B):c.11044+5C>T rs764708878 0.00003
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp) rs147891367 0.00003
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp) rs773324603 0.00003
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile) rs753781360 0.00003
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) rs545957190 0.00003
NM_152564.5(VPS13B):c.11745+5G>A rs398124328 0.00003
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00003
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys) rs761692416 0.00003
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met) rs1198845715 0.00003
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg) rs1269673113 0.00003
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His) rs182764947 0.00003
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met) rs191099208 0.00003
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys) rs1819175134 0.00003
NM_152564.5(VPS13B):c.3666+6T>C rs374468508 0.00003
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His) rs200229383 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln) rs754267693 0.00003
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln) rs565360322 0.00003
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr) rs757219665 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe) rs759411797 0.00003
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys) rs1226670439 0.00003
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr) rs1037803923 0.00003
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile) rs559107679 0.00003
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val) rs370689956 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile) rs777428883 0.00003
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln) rs146092684 0.00003
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His) rs1333115796 0.00003
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln) rs569563358 0.00003
NM_152564.5(VPS13B):c.8087T>C (p.Val2696Ala) rs755015601 0.00003
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile) rs748674763 0.00003
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln) rs148333124 0.00003
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile) rs750349908 0.00003
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys) rs886062535 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val) rs761596624 0.00003
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val) rs539575657 0.00003
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser) rs760815034 0.00002
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000081.4(LYST):c.3461C>G (p.Thr1154Arg) rs756226516 0.00002
NM_000081.4(LYST):c.5833G>A (p.Ala1945Thr) rs750338502 0.00002
NM_000081.4(LYST):c.7631T>C (p.Met2544Thr) rs1371610729 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) rs369635490 0.00002
NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu) rs200965005 0.00002
NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu) rs1294098023 0.00002
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) rs948001842 0.00002
NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val) rs781634406 0.00002
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) rs760231922 0.00002
NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu) rs763022964 0.00002
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) rs372318763 0.00002
NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe) rs778281149 0.00002
NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe) rs1650331500 0.00002
NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys) rs150281231 0.00002
NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile) rs371426547 0.00002
NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln) rs138558210 0.00002
NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp) rs141083013 0.00002
NM_000760.4(CSF3R):c.843+3G>A rs373601431 0.00002
NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) rs758186406 0.00002
NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr) rs750345536 0.00002
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys) rs376140990 0.00002
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu) rs373540523 0.00002
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val) rs555640045 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001972.4(ELANE):c.118G>A (p.Ala40Thr) rs1004780968 0.00002
NM_001972.4(ELANE):c.14G>A (p.Arg5His) rs1050778419 0.00002
NM_001972.4(ELANE):c.223G>A (p.Val75Ile) rs200998348 0.00002
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser) rs1196145112 0.00002
NM_001972.4(ELANE):c.354C>G (p.Ile118Met) rs759734732 0.00002
NM_001972.4(ELANE):c.407C>T (p.Ala136Val) rs145175658 0.00002
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) rs140642538 0.00002
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser) rs758805835 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr) rs775296594 0.00002
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln) rs150651515 0.00002
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val) rs768736531 0.00002
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu) rs151082743 0.00002
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=) rs755754414 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.942+6T>C rs759015208 0.00002
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr) rs770306507 0.00002
NM_005263.5(GFI1):c.484G>A (p.Gly162Ser) rs1302643142 0.00002
NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) rs773178468 0.00002
NM_005263.5(GFI1):c.506G>T (p.Gly169Val) rs1463895728 0.00002
NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) rs375422035 0.00002
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln) rs756371972 0.00002
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg) rs370342620 0.00002
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) rs781997687 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) rs782426640 0.00002
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val) rs373074422 0.00002
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) rs782052786 0.00002
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile) rs374008116 0.00002
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr) rs144187978 0.00002
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) rs778975542 0.00002
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) rs771407343 0.00002
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) rs762857972 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) rs746741551 0.00002
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys) rs764229993 0.00002
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu) rs561313644 0.00002
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) rs765927570 0.00002
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) rs765872526 0.00002
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr) rs377394274 0.00002
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile) rs767783667 0.00002
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser) rs142411465 0.00002
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile) rs367609176 0.00002
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met) rs745866775 0.00002
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn) rs748727467 0.00002
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu) rs749689354 0.00002
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp) rs560723051 0.00002
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr) rs749392832 0.00002
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) rs549702100 0.00002
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His) rs371985144 0.00002
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp) rs774988681 0.00002
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met) rs753703762 0.00002
NM_152564.5(VPS13B):c.1357A>G (p.Arg453Gly) rs767057004 0.00002
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr) rs368241718 0.00002
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val) rs750419805 0.00002
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile) rs147043610 0.00002
NM_152564.5(VPS13B):c.203A>G (p.His68Arg) rs368511311 0.00002
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly) rs145988999 0.00002
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala) rs1483935385 0.00002
NM_152564.5(VPS13B):c.2334-3C>T rs749105779 0.00002
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val) rs780214074 0.00002
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp) rs369849286 0.00002
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile) rs745742179 0.00002
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu) rs576973103 0.00002
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu) rs371315874 0.00002
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg) rs1391680745 0.00002
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val) rs1343599639 0.00002
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly) rs1289522615 0.00002
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg) rs749167191 0.00002
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala) rs746514520 0.00002
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe) rs780981868 0.00002
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) rs200774003 0.00002
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln) rs138148013 0.00002
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln) rs751699219 0.00002
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile) rs1430604594 0.00002
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp) rs751179813 0.00002
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys) rs751912986 0.00002
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp) rs1479745735 0.00002
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val) rs534890892 0.00002
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys) rs780180063 0.00002
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp) rs1184175662 0.00002
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe) rs762982977 0.00002
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys) rs755052081 0.00002
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr) rs369062407 0.00002
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu) rs377498258 0.00002
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His) rs398124338 0.00002
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg) rs568716604 0.00002
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser) rs145899918 0.00002
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp) rs749023338 0.00002
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met) rs769413380 0.00002
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys) rs753075331 0.00002
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu) rs760166376 0.00002
NM_152564.5(VPS13B):c.8645G>T (p.Cys2882Phe) rs954722328 0.00002
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val) rs943316620 0.00002
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu) rs146883974 0.00002
NM_152564.5(VPS13B):c.9391A>G (p.Met3131Val) rs1241294111 0.00002
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup) rs747778859 0.00002
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly) rs138889735 0.00002
NM_152564.5(VPS13B):c.9742+2dup rs770968105 0.00002
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr) rs749573516 0.00002
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr) rs139575184 0.00002
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_183235.3(RAB27A):c.37T>G (p.Leu13Val) rs905779372 0.00002
NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser) rs576324438 0.00002
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg) rs778448317 0.00002
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys) rs1369698547 0.00001
NM_000081.4(LYST):c.10976G>T (p.Ser3659Ile) rs1659445104 0.00001
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser) rs1481260242 0.00001
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln) rs751609899 0.00001
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys) rs367688184 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val) rs1178179147 0.00001
NM_000081.4(LYST):c.440G>A (p.Arg147His) rs759868763 0.00001
NM_000081.4(LYST):c.463G>C (p.Val155Leu) rs769942827 0.00001
NM_000081.4(LYST):c.4998C>A (p.Asp1666Glu) rs377563551 0.00001
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile) rs757494655 0.00001
NM_000081.4(LYST):c.5784+2C>T rs763156837 0.00001
NM_000081.4(LYST):c.6736C>T (p.Leu2246Phe) rs758716853 0.00001
NM_000081.4(LYST):c.7340C>T (p.Ala2447Val) rs766272501 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile) rs202010795 0.00001
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile) rs764879928 0.00001
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp) rs761351181 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 0.00001
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) rs140159756 0.00001
NM_000760.4(CSF3R):c.1216G>A (p.Val406Met) rs1364558879 0.00001
NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) rs779227407 0.00001
NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala) rs1260196968 0.00001
NM_000760.4(CSF3R):c.1378G>A (p.Val460Met) rs758904378 0.00001
NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala) rs767301627 0.00001
NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) rs1180227540 0.00001
NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) rs371768579 0.00001
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg) rs763748002 0.00001
NM_000760.4(CSF3R):c.163C>G (p.Leu55Val) rs1651085213 0.00001
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) rs746657668 0.00001
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) rs1650440390 0.00001
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) rs750968883 0.00001
NM_000760.4(CSF3R):c.1828A>C (p.Asn610His) rs1014131377 0.00001
NM_000760.4(CSF3R):c.1864+6G>A rs1374999733 0.00001
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) rs201699446 0.00001
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) rs776535279 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) rs1382959301 0.00001
NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg) rs1375728977 0.00001
NM_000760.4(CSF3R):c.230G>A (p.Arg77His) rs761404285 0.00001
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn) rs567871402 0.00001
NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln) rs1332794856 0.00001
NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) rs149231790 0.00001
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) rs147091245 0.00001
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val) rs752051152 0.00001
NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu) rs1455346222 0.00001
NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile) rs1483194095 0.00001
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) rs754336092 0.00001
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) rs372288734 0.00001
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) rs764202764 0.00001
NM_000760.4(CSF3R):c.782A>G (p.His261Arg) rs1650841565 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) rs376634675 0.00001
NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn) rs772453466 0.00001
NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp) rs112400536 0.00001
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly) rs958173659 0.00001
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr) rs370696612 0.00001
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly) rs193302901 0.00001
NM_001164277.2(SLC37A4):c.1124+2dup rs1459811938 0.00001
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp) rs782665493 0.00001
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr) rs1555190374 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val) rs1277675258 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621 0.00001
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp) rs193302885 0.00001
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys) rs782446107 0.00001
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=) rs1273132953 0.00001
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr) rs781808875 0.00001
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser) rs1210339491 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly) rs1438731101 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln) rs781982938 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu) rs1468641405 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr) rs1555190738 0.00001
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro) rs1365079218 0.00001
NM_001164277.2(SLC37A4):c.986-12T>C rs1180556897 0.00001
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser) rs782282206 0.00001
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) rs773460580 0.00001
NM_001972.4(ELANE):c.119C>T (p.Ala40Val) rs1555709342 0.00001
NM_001972.4(ELANE):c.19C>T (p.Leu7Phe) rs771000673 0.00001
NM_001972.4(ELANE):c.214G>A (p.Val72Met) rs387906553 0.00001
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr) rs759486889 0.00001
NM_001972.4(ELANE):c.233G>A (p.Arg78His) rs569608929 0.00001
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) rs769123461 0.00001
NM_001972.4(ELANE):c.262A>G (p.Asn88Asp) rs899133377 0.00001
NM_001972.4(ELANE):c.292G>A (p.Val98Met) rs267606781 0.00001
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) rs568474579 0.00001
NM_001972.4(ELANE):c.343C>A (p.Leu115Ile) rs761153954 0.00001
NM_001972.4(ELANE):c.352A>G (p.Ile118Val) rs1382122842 0.00001
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) rs1303279241 0.00001
NM_001972.4(ELANE):c.385A>G (p.Ile129Val) rs2035664153 0.00001
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr) rs760393415 0.00001
NM_001972.4(ELANE):c.419C>T (p.Ala140Val) rs538255080 0.00001
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) rs199558534 0.00001
NM_001972.4(ELANE):c.430C>T (p.Arg144Cys) rs148726761 0.00001
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) rs774508567 0.00001
NM_001972.4(ELANE):c.505C>A (p.Leu169Met) rs749675557 0.00001
NM_001972.4(ELANE):c.511G>A (p.Glu171Lys) rs202069727 0.00001
NM_001972.4(ELANE):c.518A>G (p.Asn173Ser) rs748345928 0.00001
NM_001972.4(ELANE):c.520G>A (p.Val174Met) rs1380068567 0.00001
NM_001972.4(ELANE):c.551G>A (p.Ser184Asn) rs1360344559 0.00001
NM_001972.4(ELANE):c.586G>A (p.Gly196Ser) rs747108397 0.00001
NM_001972.4(ELANE):c.598-2A>C rs1364734771 0.00001
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg) rs140880838 0.00001
NM_001972.4(ELANE):c.652T>C (p.Phe218Leu) rs200384291 0.00001
NM_001972.4(ELANE):c.662G>T (p.Gly221Val) rs756112245 0.00001
NM_001972.4(ELANE):c.67+1G>T rs1599290074 0.00001
NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr) rs752022665 0.00001
NM_001972.4(ELANE):c.748G>A (p.Glu250Lys) rs1568306204 0.00001
NM_001972.4(ELANE):c.772C>T (p.Arg258Trp) rs747957936 0.00001
NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr) rs148454403 0.00001
NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly) rs750756138 0.00001
NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys) rs147467366 0.00001
NM_003467.3(CXCR4):c.345C>G (p.Ile115Met) rs1051557 0.00001
NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) rs1001278766 0.00001
NM_003467.3(CXCR4):c.478G>A (p.Val160Ile) rs147198552 0.00001
NM_003467.3(CXCR4):c.516C>A (p.Phe172Leu) rs764678610 0.00001
NM_003467.3(CXCR4):c.586G>A (p.Val196Met) rs748098105 0.00001
NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu) rs762937679 0.00001
NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu) rs779760942 0.00001
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys) rs964935640 0.00001
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn) rs750036781 0.00001
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val) rs1749668081 0.00001
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946 0.00001
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile) rs1744114827 0.00001
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met) rs758680279 0.00001
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln) rs779980435 0.00001
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His) rs781034104 0.00001
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg) rs778910104 0.00001
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) rs201185966 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252 0.00001
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337 0.00001
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn) rs768641911 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg) rs1743147205 0.00001
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg) rs370497154 0.00001
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe) rs1364578273 0.00001
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu) rs1384754808 0.00001
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198 0.00001
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu) rs1274489549 0.00001
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His) rs1229904606 0.00001
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218 0.00001
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser) rs199908785 0.00001
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys) rs1381722917 0.00001
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala) rs1317710866 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu) rs1357683810 0.00001
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp) rs781781671 0.00001
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135 0.00001
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn) rs752440818 0.00001
NM_003664.5(AP3B1):c.2077+6T>C rs1432974932 0.00001
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu) rs1244138366 0.00001
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln) rs933653334 0.00001
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg) rs780784576 0.00001
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys) rs758351076 0.00001
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn) rs751538828 0.00001
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys) rs1017591456 0.00001
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro) rs768483549 0.00001
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp) rs149948974 0.00001
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val) rs201609994 0.00001
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala) rs1056281695 0.00001
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln) rs772186737 0.00001
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val) rs1225801616 0.00001
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg) rs1338111569 0.00001
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro) rs1240100716 0.00001
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp) rs759300647 0.00001
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val) rs558325834 0.00001
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) rs1747935041 0.00001
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys) rs1170215351 0.00001
NM_003664.5(AP3B1):c.2809+4A>G rs747843144 0.00001
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) rs1022482616 0.00001
NM_003664.5(AP3B1):c.2894+4A>G rs544214699 0.00001
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) rs369459422 0.00001
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile) rs780459865 0.00001
NM_003664.5(AP3B1):c.2992+3G>A rs779017901 0.00001
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) rs780143358 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) rs776628092 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) rs767072786 0.00001
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) rs761729448 0.00001
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) rs760735640 0.00001
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) rs976542118 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp) rs758062316 0.00001
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val) rs1393665689 0.00001
NM_003664.5(AP3B1):c.603+3A>G rs1357382699 0.00001
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln) rs1485047029 0.00001
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu) rs1271543780 0.00001
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn) rs914618490 0.00001
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys) rs989736183 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr) rs570476100 0.00001
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile) rs201075567 0.00001
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr) rs778226822 0.00001
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val) rs753218867 0.00001
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser) rs773073407 0.00001
NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser) rs367740686 0.00001
NM_005263.5(GFI1):c.181C>G (p.Leu61Val) rs779976283 0.00001
NM_005263.5(GFI1):c.313A>G (p.Met105Val) rs1290770390 0.00001
NM_005263.5(GFI1):c.383C>A (p.Ala128Glu) rs371451553 0.00001
NM_005263.5(GFI1):c.401A>C (p.His134Pro) rs1475018499 0.00001
NM_005263.5(GFI1):c.46C>T (p.His16Tyr) rs772644896 0.00001
NM_005263.5(GFI1):c.541G>A (p.Ala181Thr) rs1345753394 0.00001
NM_005263.5(GFI1):c.603C>T (p.Gly201=) rs1230474672 0.00001
NM_005263.5(GFI1):c.656G>A (p.Gly219Asp) rs769364541 0.00001
NM_005263.5(GFI1):c.714G>T (p.Lys238Asn) rs1337988180 0.00001
NM_005263.5(GFI1):c.757G>A (p.Gly253Ser) rs772484731 0.00001
NM_005263.5(GFI1):c.82C>T (p.Arg28Cys) rs1658376108 0.00001
NM_005263.5(GFI1):c.868G>C (p.Gly290Arg) rs1391091980 0.00001
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys) rs754167096 0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr) rs745643366 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu) rs1465330876 0.00001
NM_006118.4(HAX1):c.700G>A (p.Gly234Ser) rs1287019123 0.00001
NM_006118.4(HAX1):c.736G>C (p.Asp246His) rs375477111 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln) rs746872949 0.00001
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter) rs782504130 0.00001
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) rs1656346466 0.00001
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) rs782104716 0.00001
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) rs782194772 0.00001
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) rs917642055 0.00001
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile) rs1323351672 0.00001
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr) rs782327338 0.00001
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn) rs1441537795 0.00001
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg) rs1348750495 0.00001
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) rs782513242 0.00001
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274 0.00001
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr) rs781964646 0.00001
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala) rs1553798269 0.00001
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala) rs142551106 0.00001
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) rs200134576 0.00001
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys) rs782677308 0.00001
NM_007259.5(VPS45):c.580G>A (p.Val194Met) rs587713385 0.00001
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) rs368347807 0.00001
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) rs908608470 0.00001
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) rs782495021 0.00001
NM_007259.5(VPS45):c.64A>G (p.Met22Val) rs782253570 0.00001
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys) rs1571825459 0.00001
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374 0.00001
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) rs782164464 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.93G>A (p.Thr31=) rs1387315578 0.00001
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser) rs776321717 0.00001
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His) rs1821581494 0.00001
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813 0.00001
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro) rs1297627583 0.00001
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) rs776475085 0.00001
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val) rs762026143 0.00001
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys) rs779485881 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg) rs1387440057 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu) rs762536153 0.00001
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) rs1347079621 0.00001
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met) rs750937874 0.00001
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu) rs1356446581 0.00001
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) rs1336165706 0.00001
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met) rs748177654 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val) rs1016698344 0.00001
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) rs749505455 0.00001
NM_138387.4(G6PC3):c.821G>A (p.Arg274His) rs773183765 0.00001
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp) rs200393998 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 0.00001
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val) rs777046028 0.00001
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val) rs199931583 0.00001
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr) rs1036301212 0.00001
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn) rs759636784 0.00001
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg) rs377348581 0.00001
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser) rs770379709 0.00001
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu) rs368041601 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg) rs188030143 0.00001
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr) rs1816408668 0.00001
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr) rs1816412271 0.00001
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe) rs761972356 0.00001
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe) rs1563509900 0.00001
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val) rs1196019519 0.00001
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val) rs398124325 0.00001
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His) rs773013716 0.00001
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp) rs763017122 0.00001
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) rs759427770 0.00001
NM_152564.5(VPS13B):c.10540T>C (p.Tyr3514His) rs1440017130 0.00001
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val) rs1020906206 0.00001
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp) rs200232124 0.00001
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln) rs549125520 0.00001
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr) rs759972908 0.00001
NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala) rs376964635 0.00001
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe) rs753058180 0.00001
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met) rs1303747895 0.00001
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val) rs1225418115 0.00001
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr) rs769606496 0.00001
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr) rs373605057 0.00001
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys) rs116951775 0.00001
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val) rs148582416 0.00001
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg) rs778657622 0.00001
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg) rs61754108 0.00001
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln) rs370507425 0.00001
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser) rs373947421 0.00001
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser) rs543010361 0.00001
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile) rs746534351 0.00001
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr) rs772287232 0.00001
NM_152564.5(VPS13B):c.11044+6G>A rs369477759 0.00001
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val) rs1045389239 0.00001
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln) rs757726642 0.00001
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His) rs748531719 0.00001
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp) rs772640414 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu) rs773391550 0.00001
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met) rs1318142770 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg) rs1209759817 0.00001
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile) rs1375551293 0.00001
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met) rs145970185 0.00001
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg) rs1172665875 0.00001
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His) rs529932207 0.00001
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu) rs75996587 0.00001
NM_152564.5(VPS13B):c.11489A>G (p.Tyr3830Cys) rs1354835040 0.00001
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile) rs752506829 0.00001
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met) rs781773703 0.00001
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile) rs765012695 0.00001
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser) rs1272962312 0.00001
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg) rs745928856 0.00001
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val) rs978197543 0.00001
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro) rs902783600 0.00001
NM_152564.5(VPS13B):c.1206+6T>A rs778709502 0.00001
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=) rs1847928125 0.00001
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His) rs1269344604 0.00001
NM_152564.5(VPS13B):c.1302+2dup rs766708621 0.00001
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr) rs754324907 0.00001
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr) rs1431957435 0.00001
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser) rs1272904056 0.00001
NM_152564.5(VPS13B):c.147+3A>G rs772550162 0.00001
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala) rs1432079296 0.00001
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile) rs751932917 0.00001
NM_152564.5(VPS13B):c.1564-3C>T rs753911390 0.00001
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala) rs146659631 0.00001
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu) rs750429731 0.00001
NM_152564.5(VPS13B):c.1603G>A (p.Ala535Thr) rs1350243430 0.00001
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val) rs1478296228 0.00001
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn) rs774992590 0.00001
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly) rs1372588907 0.00001
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp) rs886062536 0.00001
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His) rs756072319 0.00001
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys) rs769956475 0.00001
NM_152564.5(VPS13B):c.1771G>A (p.Val591Met) rs372593334 0.00001
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala) rs753616467 0.00001
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser) rs1209495278 0.00001
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala) rs891182271 0.00001
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly) rs1294611505 0.00001
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu) rs886062537 0.00001
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met) rs904064642 0.00001
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val) rs1408089043 0.00001
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser) rs1413120643 0.00001
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu) rs1228929542 0.00001
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val) rs751897986 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 0.00001
NM_152564.5(VPS13B):c.2333+5G>A rs369096824 0.00001
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg) rs765133430 0.00001
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys) rs1452649119 0.00001
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg) rs1208376209 0.00001
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr) rs774142530 0.00001
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp) rs1251819735 0.00001
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg) rs936610679 0.00001
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr) rs371800257 0.00001
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr) rs112259211 0.00001
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val) rs772082436 0.00001
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser) rs371120818 0.00001
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu) rs1378379268 0.00001
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val) rs1222718209 0.00001
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys) rs372949456 0.00001
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu) rs773412105 0.00001
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln) rs773717018 0.00001
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr) rs749988222 0.00001
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser) rs775378782 0.00001
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His) rs1563700103 0.00001
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys) rs779809192 0.00001
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg) rs398124332 0.00001
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln) rs778413172 0.00001
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr) rs763519651 0.00001
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg) rs376049764 0.00001
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=) rs772161131 0.00001
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe) rs1262733224 0.00001
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro) rs1429325415 0.00001
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met) rs1465563233 0.00001
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His) rs771021187 0.00001
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val) rs1169113054 0.00001
NM_152564.5(VPS13B):c.3211-16T>A rs1439444815 0.00001
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val) rs780930460 0.00001
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys) rs368290618 0.00001
NM_152564.5(VPS13B):c.3305G>A (p.Ser1102Asn) rs778498211 0.00001
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn) rs1251521388 0.00001
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu) rs1463093451 0.00001
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val) rs769263049 0.00001
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met) rs758040462 0.00001
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile) rs748600714 0.00001
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn) rs777953652 0.00001
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu) rs1819169224 0.00001
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn) rs763259028 0.00001
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln) rs1279523650 0.00001
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His) rs757707584 0.00001
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile) rs1820042425 0.00001
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile) rs769743278 0.00001
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe) rs763456297 0.00001
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp) rs751944327 0.00001
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro) rs1437011084 0.00001
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val) rs778799166 0.00001
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr) rs747109984 0.00001
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn) rs1441125749 0.00001
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val) rs759888573 0.00001
NM_152564.5(VPS13B):c.3870+5G>A rs1183330877 0.00001
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser) rs762049347 0.00001
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser) rs1326406012 0.00001
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu) rs1821315813 0.00001
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn) rs1160697460 0.00001
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser) rs757950339 0.00001
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val) rs773134117 0.00001
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe) rs1226944454 0.00001
NM_152564.5(VPS13B):c.4224+684T>G rs779176548 0.00001
NM_152564.5(VPS13B):c.4224+707C>G rs1821585422 0.00001
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala) rs1462190245 0.00001
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe) rs1821771268 0.00001
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His) rs750810791 0.00001
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg) rs773937982 0.00001
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro) rs771420728 0.00001
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe) rs763285164 0.00001
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His) rs1821776501 0.00001
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly) rs751663330 0.00001
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile) rs1457753544 0.00001
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val) rs370519991 0.00001
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp) rs140797231 0.00001
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu) rs757253779 0.00001
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys) rs1234827991 0.00001
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr) rs750053756 0.00001
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) rs138417551 0.00001
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe) rs1481675275 0.00001
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr) rs142708735 0.00001
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val) rs760057249 0.00001
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr) rs954564707 0.00001
NM_152564.5(VPS13B):c.4792G>A (p.Glu1598Lys) rs1169963451 0.00001
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met) rs1824574633 0.00001
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu) rs1002672196 0.00001
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln) rs1257281144 0.00001
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu) rs1824580005 0.00001
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala) rs769608908 0.00001
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu) rs776596431 0.00001
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile) rs770669224 0.00001
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala) rs1224933519 0.00001
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr) rs200878381 0.00001
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu) rs572732952 0.00001
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg) rs772461225 0.00001
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp) rs976129659 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn) rs1241714095 0.00001
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly) rs767031340 0.00001
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val) rs757833793 0.00001
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr) rs146540735 0.00001
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys) rs760207080 0.00001
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His) rs891967669 0.00001
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys) rs367561688 0.00001
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala) rs1829399025 0.00001
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe) rs758410065 0.00001
NM_152564.5(VPS13B):c.5701A>G (p.Arg1901Gly) rs1176179128 0.00001
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val) rs913328995 0.00001
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala) rs946197995 0.00001
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu) rs541081770 0.00001
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val) rs781154165 0.00001
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg) rs777142337 0.00001
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser) rs770738729 0.00001
NM_152564.5(VPS13B):c.585T>A (p.Thr195=) rs773972779 0.00001
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg) rs1422533086 0.00001
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile) rs1303328130 0.00001
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val) rs199837195 0.00001
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala) rs779210102 0.00001
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val) rs200711677 0.00001
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val) rs200554315 0.00001
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr) rs1832190048 0.00001
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn) rs1056435586 0.00001
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln) rs1422079821 0.00001
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile) rs766003681 0.00001
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg) rs1212416417 0.00001
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val) rs748059850 0.00001
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys) rs367838871 0.00001
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val) rs967172609 0.00001
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=) rs536727985 0.00001
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro) rs1366756885 0.00001
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn) rs767664311 0.00001
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr) rs778567402 0.00001
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala) rs532297738 0.00001
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu) rs1357919606 0.00001
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg) rs751576277 0.00001
NM_152564.5(VPS13B):c.6602G>T (p.Gly2201Val) rs149727474 0.00001
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp) rs1421107785 0.00001
NM_152564.5(VPS13B):c.6658-3A>T rs994417111 0.00001
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr) rs747340772 0.00001
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro) rs776873589 0.00001
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe) rs1001219779 0.00001
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys) rs1445900590 0.00001
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His) rs1833091516 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser) rs1833108064 0.00001
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile) rs1833108203 0.00001
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile) rs1459648775 0.00001
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg) rs778935189 0.00001
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser) rs1001142449 0.00001
NM_152564.5(VPS13B):c.710G>A (p.Arg237His) rs751804274 0.00001
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg) rs1811252908 0.00001
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met) rs764630440 0.00001
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu) rs754410472 0.00001
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro) rs1289418559 0.00001
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val) rs765664729 0.00001
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys) rs758694590 0.00001
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys) rs1016168403 0.00001
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile) rs1811763988 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe) rs1811766011 0.00001
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln) rs752014773 0.00001
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser) rs779696637 0.00001
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr) rs779401089 0.00001
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val) rs772347065 0.00001
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val) rs1467331063 0.00001
NM_152564.5(VPS13B):c.763-7A>G rs972645639 0.00001
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu) rs747240552 0.00001
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala) rs887354798 0.00001
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg) rs759385151 0.00001
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu) rs767022008 0.00001
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile) rs780461877 0.00001
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile) rs549157416 0.00001
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser) rs1026827853 0.00001
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys) rs202238616 0.00001
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His) rs761563766 0.00001
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg) rs760112876 0.00001
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val) rs533426135 0.00001
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val) rs752505325 0.00001
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His) rs555559192 0.00001
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly) rs770879393 0.00001
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile) rs751700874 0.00001
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg) rs767536787 0.00001
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val) rs201127443 0.00001
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe) rs772183822 0.00001
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00001
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys) rs1297259725 0.00001
NM_152564.5(VPS13B):c.827G>A (p.Arg276His) rs181021782 0.00001
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg) rs750963582 0.00001
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile) rs377170629 0.00001
NM_152564.5(VPS13B):c.8426C>G (p.Ser2809Cys) rs1588743592 0.00001
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro) rs769551176 0.00001
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg) rs755406876 0.00001
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val) rs797046096 0.00001
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser) rs1231452283 0.00001
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val) rs1476327965 0.00001
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met) rs778838868 0.00001
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser) rs1452503935 0.00001
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser) rs1260884050 0.00001
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val) rs1272294316 0.00001
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val) rs1462824433 0.00001
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys) rs769404310 0.00001
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu) rs147437490 0.00001
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg) rs987741026 0.00001
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val) rs752484886 0.00001
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr) rs1305759367 0.00001
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu) rs6992059 0.00001
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp) rs1320309593 0.00001
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn) rs1480540038 0.00001
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser) rs747092413 0.00001
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His) rs376291996 0.00001
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser) rs1157467792 0.00001
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr) rs759831421 0.00001
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val) rs756197846 0.00001
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys) rs1035761875 0.00001
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val) rs905882677 0.00001
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile) rs904676214 0.00001
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) rs772361332 0.00001
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) rs758775003 0.00001
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln) rs769856598 0.00001
NM_152564.5(VPS13B):c.9748C>G (p.Pro3250Ala) rs1295909129 0.00001
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu) rs761208848 0.00001
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe) rs1425945549 0.00001
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe) rs1372759268 0.00001
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys) rs756531043 0.00001
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg) rs558911841 0.00001
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys) rs376549169 0.00001
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met) rs754882929 0.00001
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val) rs763762181 0.00001
NM_183235.3(RAB27A):c.175G>C (p.Asp59His) rs770949071 0.00001
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro) rs1371360853 0.00001
NM_183235.3(RAB27A):c.240-5C>G rs750942183 0.00001
NM_183235.3(RAB27A):c.245G>A (p.Arg82His) rs140640177 0.00001
NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr) rs104894499 0.00001
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg) rs746081723 0.00001
NM_183235.3(RAB27A):c.520A>G (p.Ile174Val) rs751121802 0.00001
NM_183235.3(RAB27A):c.596T>C (p.Val199Ala) rs778390086 0.00001
NM_183235.3(RAB27A):c.627G>C (p.Gln209His) rs776080472 0.00001
NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr) rs373190916 0.00001
NC_000001.10:g.(?_149895434)_(156851434_?)dup
NC_000001.10:g.(?_150044213)_(150477474_?)dup
NC_000001.10:g.(?_150048291)_(150082762_?)dup
NC_000001.10:g.(?_235613501)_(235827941_?)dup
NC_000001.10:g.(?_235826240)_(235945407_?)dup
NC_000001.10:g.(?_36931958)_(36937267_?)dup
NC_000001.10:g.(?_36940958)_(36941294_?)del
NC_000001.10:g.(?_92457801)_(92949044_?)dup
NC_000001.10:g.(?_92941566)_(92949064_?)del
NC_000001.10:g.(?_92941586)_(93307422_?)del
NC_000002.11:g.(?_135809878)_(136875630_?)del
NC_000002.12:g.(?_135950413)_(136118080_?)del
NC_000002.12:g.(?_135950413)_(136118080_?)dup
NC_000003.11:g.(?_9908818)_(10191649_?)dup
NC_000003.11:g.(?_9908818)_(9932515_?)dup
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.9:g.(?_77471430)_(77477506_?)del
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000008.10:g.(?_100025997)_(100133735_?)dup
NC_000008.10:g.(?_100026017)_(100026183_?)dup
NC_000008.10:g.(?_100026017)_(100133693_?)dup
NC_000008.10:g.(?_100026017)_(100149000_?)dup
NC_000008.10:g.(?_100026017)_(100287502_?)dup
NC_000008.10:g.(?_100050631)_(100396565_?)dup
NC_000008.10:g.(?_100155202)_(100221801_?)del
NC_000008.10:g.(?_100168757)_(100168991_?)del
NC_000008.10:g.(?_100443745)_(100454883_?)del
NC_000008.10:g.(?_100519978)_(100533258_?)del
NC_000008.10:g.(?_99135566)_(100205305_?)dup
NC_000008.10:g.(?_99135566)_(106815766_?)dup
NC_000008.11:g.(?_99013769)_(99875686_?)dup
NC_000008.11:g.(?_99096292)_(99156763_?)del
NC_000008.11:g.(?_99096312)_(99148010_?)del
NC_000008.11:g.(?_99102933)_(99103140_?)del
NC_000008.11:g.(?_99102933)_(99209688_?)del
NC_000008.11:g.(?_99142974)_(99143165_?)del
NC_000008.11:g.(?_99766774)_(99784476_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NC_000015.9:g.(?_55497685)_(55527152_?)dup
NC_000015.9:g.(?_55497705)_(55727276_?)dup
NC_000017.10:g.(?_42151508)_(42153411_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NC_000019.10:g.(?_852288)_(856184_?)del
NC_000019.9:g.(?_589946)_(2151333_?)dup
NC_000019.9:g.(?_852326)_(856164_?)dup
NC_000019.9:g.(?_852329)_(853423_?)del
NC_000019.9:g.(?_852329)_(855814_?)dup
NC_000019.9:g.(?_855544)_(856164_?)del
NC_000019.9:g.(?_855938)_(856184_?)dup
NC_000023.10:g.(?_153592370)_(153775961_?)dup
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153642547_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NC_000023.10:g.(?_48368209)_(51241672_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NM_000081.4(LYST):c.10003C>T (p.Arg3335Cys)
NM_000081.4(LYST):c.10025G>A (p.Arg3342Gln)
NM_000081.4(LYST):c.10033C>G (p.Leu3345Val)
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
NM_000081.4(LYST):c.10060A>G (p.Ile3354Val)
NM_000081.4(LYST):c.10072A>G (p.Ile3358Val)
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.4(LYST):c.100GAG[2] (p.Glu36del)
NM_000081.4(LYST):c.10106A>G (p.Lys3369Arg)
NM_000081.4(LYST):c.10108G>C (p.Ala3370Pro)
NM_000081.4(LYST):c.10123A>G (p.Ile3375Val)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.1013A>G (p.Asp338Gly)
NM_000081.4(LYST):c.10143+6T>G
NM_000081.4(LYST):c.10144A>G (p.Thr3382Ala)
NM_000081.4(LYST):c.10159G>A (p.Asp3387Asn)
NM_000081.4(LYST):c.10174G>A (p.Glu3392Lys)
NM_000081.4(LYST):c.10186C>G (p.Gln3396Glu)
NM_000081.4(LYST):c.10193G>A (p.Arg3398Gln)
NM_000081.4(LYST):c.10211T>C (p.Ile3404Thr)
NM_000081.4(LYST):c.10234C>T (p.Arg3412Cys)
NM_000081.4(LYST):c.10246C>T (p.His3416Tyr)
NM_000081.4(LYST):c.10248C>G (p.His3416Gln)
NM_000081.4(LYST):c.1024G>A (p.Ala342Thr)
NM_000081.4(LYST):c.10253C>T (p.Ala3418Val)
NM_000081.4(LYST):c.10262G>A (p.Ser3421Asn)
NM_000081.4(LYST):c.10283A>G (p.Asn3428Ser)
NM_000081.4(LYST):c.10285A>G (p.Ile3429Val)
NM_000081.4(LYST):c.10286T>C (p.Ile3429Thr)
NM_000081.4(LYST):c.10317G>T (p.Leu3439Phe)
NM_000081.4(LYST):c.10321G>A (p.Val3441Met)
NM_000081.4(LYST):c.10346G>A (p.Arg3449Gln)
NM_000081.4(LYST):c.10352A>G (p.Gln3451Arg)
NM_000081.4(LYST):c.10366A>G (p.Thr3456Ala)
NM_000081.4(LYST):c.10370A>G (p.Tyr3457Cys)
NM_000081.4(LYST):c.10372C>A (p.Pro3458Thr)
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
NM_000081.4(LYST):c.10373C>T (p.Pro3458Leu)
NM_000081.4(LYST):c.10374G>A (p.Pro3458=) rs1661644862
NM_000081.4(LYST):c.10392A>G (p.Ile3464Met)
NM_000081.4(LYST):c.10397G>C (p.Gly3466Ala)
NM_000081.4(LYST):c.10397G>T (p.Gly3466Val)
NM_000081.4(LYST):c.10415A>T (p.Tyr3472Phe)
NM_000081.4(LYST):c.10417G>A (p.Val3473Met)
NM_000081.4(LYST):c.10430G>T (p.Ser3477Ile)
NM_000081.4(LYST):c.10435C>G (p.Pro3479Ala)
NM_000081.4(LYST):c.10435C>T (p.Pro3479Ser)
NM_000081.4(LYST):c.10444G>A (p.Val3482Met)
NM_000081.4(LYST):c.10457G>C (p.Ser3486Thr)
NM_000081.4(LYST):c.10457G>T (p.Ser3486Ile)
NM_000081.4(LYST):c.10459C>G (p.Gln3487Glu)
NM_000081.4(LYST):c.10466A>G (p.His3489Arg)
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.4(LYST):c.10475G>T (p.Arg3492Ile)
NM_000081.4(LYST):c.10478T>A (p.Phe3493Tyr)
NM_000081.4(LYST):c.10480G>T (p.Gly3494Cys)
NM_000081.4(LYST):c.10483T>A (p.Ser3495Thr)
NM_000081.4(LYST):c.10492G>C (p.Ala3498Pro) rs1222770569
NM_000081.4(LYST):c.10501A>G (p.Thr3501Ala)
NM_000081.4(LYST):c.10502C>T (p.Thr3501Ile)
NM_000081.4(LYST):c.10508C>T (p.Ala3503Val)
NM_000081.4(LYST):c.1050_1058dup (p.Lys351_Leu353dup)
NM_000081.4(LYST):c.10510A>G (p.Ile3504Val)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10526G>T (p.Arg3509Leu)
NM_000081.4(LYST):c.10565-20T>A
NM_000081.4(LYST):c.10565G>A (p.Gly3522Asp)
NM_000081.4(LYST):c.10576A>G (p.Met3526Val)
NM_000081.4(LYST):c.1057T>G (p.Leu353Val)
NM_000081.4(LYST):c.10581C>G (p.Asn3527Lys)
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
NM_000081.4(LYST):c.10587G>A (p.Thr3529=)
NM_000081.4(LYST):c.10604C>T (p.Ala3535Val)
NM_000081.4(LYST):c.10610T>G (p.Leu3537Arg)
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
NM_000081.4(LYST):c.10649G>C (p.Ser3550Thr)
NM_000081.4(LYST):c.10664C>T (p.Pro3555Leu)
NM_000081.4(LYST):c.10669G>A (p.Val3557Ile)
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.4(LYST):c.10683A>G (p.Gln3561=)
NM_000081.4(LYST):c.10684A>C (p.Ser3562Arg)
NM_000081.4(LYST):c.10691A>G (p.Gln3564Arg)
NM_000081.4(LYST):c.10702G>C (p.Val3568Leu)
NM_000081.4(LYST):c.10705A>G (p.Thr3569Ala)
NM_000081.4(LYST):c.10708A>G (p.Ser3570Gly)
NM_000081.4(LYST):c.10723C>T (p.Pro3575Ser)
NM_000081.4(LYST):c.10726G>A (p.Asp3576Asn)
NM_000081.4(LYST):c.10734C>G (p.Cys3578Trp)
NM_000081.4(LYST):c.1073G>C (p.Arg358Thr)
NM_000081.4(LYST):c.10744A>G (p.Thr3582Ala)
NM_000081.4(LYST):c.10756T>G (p.Cys3586Gly)
NM_000081.4(LYST):c.10759G>A (p.Gly3587Ser)
NM_000081.4(LYST):c.10778C>G (p.Thr3593Arg)
NM_000081.4(LYST):c.10799C>T (p.Thr3600Met)
NM_000081.4(LYST):c.1079C>G (p.Ala360Gly)
NM_000081.4(LYST):c.1079C>T (p.Ala360Val)
NM_000081.4(LYST):c.10816A>T (p.Met3606Leu)
NM_000081.4(LYST):c.10817T>C (p.Met3606Thr)
NM_000081.4(LYST):c.10822A>G (p.Thr3608Ala)
NM_000081.4(LYST):c.10823C>G (p.Thr3608Ser)
NM_000081.4(LYST):c.10834C>G (p.Leu3612Val)
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.4(LYST):c.10847C>A (p.Thr3616Lys)
NM_000081.4(LYST):c.10900G>A (p.Val3634Met)
NM_000081.4(LYST):c.10916C>G (p.Thr3639Ser)
NM_000081.4(LYST):c.10921A>G (p.Ile3641Val)
NM_000081.4(LYST):c.10924A>C (p.Ile3642Leu)
NM_000081.4(LYST):c.10927T>C (p.Trp3643Arg)
NM_000081.4(LYST):c.10940+6G>A
NM_000081.4(LYST):c.10941G>C (p.Arg3647Ser)
NM_000081.4(LYST):c.10955A>G (p.Gln3652Arg)
NM_000081.4(LYST):c.10964C>T (p.Ala3655Val)
NM_000081.4(LYST):c.10978C>T (p.Pro3660Ser)
NM_000081.4(LYST):c.10981G>A (p.Val3661Ile)
NM_000081.4(LYST):c.10994C>A (p.Ser3665Tyr)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
NM_000081.4(LYST):c.1100T>G (p.Leu367Arg)
NM_000081.4(LYST):c.11017A>G (p.Ile3673Val)
NM_000081.4(LYST):c.11039-12T>C
NM_000081.4(LYST):c.11039-20G>A
NM_000081.4(LYST):c.11044G>A (p.Gly3682Arg)
NM_000081.4(LYST):c.11077G>A (p.Gly3693Arg)
NM_000081.4(LYST):c.11080G>T (p.Asp3694Tyr)
NM_000081.4(LYST):c.11087T>C (p.Val3696Ala)
NM_000081.4(LYST):c.11094T>C (p.His3698=)
NM_000081.4(LYST):c.1109A>G (p.Gln370Arg)
NM_000081.4(LYST):c.11101T>G (p.Cys3701Gly) rs1658277094
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11115C>G (p.Ile3705Met)
NM_000081.4(LYST):c.11117G>A (p.Cys3706Tyr)
NM_000081.4(LYST):c.1111C>G (p.Pro371Ala)
NM_000081.4(LYST):c.1111C>T (p.Pro371Ser)
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
NM_000081.4(LYST):c.11135A>G (p.Asn3712Ser)
NM_000081.4(LYST):c.11137C>G (p.Gln3713Glu)
NM_000081.4(LYST):c.11155A>G (p.Ile3719Val)
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.4(LYST):c.11168C>T (p.Ala3723Val)
NM_000081.4(LYST):c.11189T>C (p.Ile3730Thr)
NM_000081.4(LYST):c.11212G>A (p.Asp3738Asn)
NM_000081.4(LYST):c.1122T>G (p.Phe374Leu)
NM_000081.4(LYST):c.1123G>A (p.Ala375Thr)
NM_000081.4(LYST):c.1124C>T (p.Ala375Val)
NM_000081.4(LYST):c.11267+3A>G
NM_000081.4(LYST):c.11268C>G (p.Ser3756Arg)
NM_000081.4(LYST):c.1126C>A (p.Pro376Thr)
NM_000081.4(LYST):c.1126C>T (p.Pro376Ser)
NM_000081.4(LYST):c.11278T>C (p.Ser3760Pro)
NM_000081.4(LYST):c.112C>T (p.His38Tyr)
NM_000081.4(LYST):c.11300A>T (p.Tyr3767Phe)
NM_000081.4(LYST):c.11303C>T (p.Thr3768Ile)
NM_000081.4(LYST):c.11306C>T (p.Ala3769Val)
NM_000081.4(LYST):c.11308A>G (p.Asn3770Asp)
NM_000081.4(LYST):c.11312G>A (p.Ser3771Asn)
NM_000081.4(LYST):c.11320A>T (p.Thr3774Ser)
NM_000081.4(LYST):c.11323G>A (p.Val3775Met)
NM_000081.4(LYST):c.1132C>G (p.Gln378Glu)
NM_000081.4(LYST):c.11339G>A (p.Arg3780Gln)
NM_000081.4(LYST):c.11346C>A (p.Asp3782Glu)
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
NM_000081.4(LYST):c.11375A>G (p.Tyr3792Cys)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.11393A>G (p.Tyr3798Cys)
NM_000081.4(LYST):c.11401G>C (p.Gly3801Arg)
NM_000081.4(LYST):c.1151A>T (p.Glu384Val)
NM_000081.4(LYST):c.116T>A (p.Met39Lys)
NM_000081.4(LYST):c.1175C>T (p.Ser392Leu)
NM_000081.4(LYST):c.1179G>C (p.Lys393Asn)
NM_000081.4(LYST):c.1183C>T (p.Arg395Cys)
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
NM_000081.4(LYST):c.1189A>G (p.Arg397Gly)
NM_000081.4(LYST):c.1198C>A (p.Leu400Ile)
NM_000081.4(LYST):c.119C>T (p.Ala40Val)
NM_000081.4(LYST):c.1217A>G (p.Glu406Gly)
NM_000081.4(LYST):c.1240T>C (p.Cys414Arg)
NM_000081.4(LYST):c.1244G>A (p.Cys415Tyr)
NM_000081.4(LYST):c.124C>G (p.Leu42Val)
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
NM_000081.4(LYST):c.125T>C (p.Leu42Pro)
NM_000081.4(LYST):c.1280G>A (p.Ser427Asn)
NM_000081.4(LYST):c.1288A>G (p.Met430Val)
NM_000081.4(LYST):c.1304A>T (p.Glu435Val)
NM_000081.4(LYST):c.1316A>G (p.His439Arg)
NM_000081.4(LYST):c.1319A>G (p.His440Arg)
NM_000081.4(LYST):c.131A>G (p.Gln44Arg)
NM_000081.4(LYST):c.1328A>G (p.Asn443Ser)
NM_000081.4(LYST):c.1339_1341del (p.Thr447del)
NM_000081.4(LYST):c.133T>C (p.Tyr45His)
NM_000081.4(LYST):c.1342G>A (p.Ala448Thr)
NM_000081.4(LYST):c.1354A>G (p.Met452Val)
NM_000081.4(LYST):c.1360T>C (p.Trp454Arg)
NM_000081.4(LYST):c.1364T>C (p.Leu455Pro)
NM_000081.4(LYST):c.136C>T (p.Leu46Phe)
NM_000081.4(LYST):c.1400A>T (p.Glu467Val)
NM_000081.4(LYST):c.1421A>G (p.Asn474Ser)
NM_000081.4(LYST):c.1454A>C (p.Lys485Thr)
NM_000081.4(LYST):c.1456G>T (p.Val486Leu)
NM_000081.4(LYST):c.146G>A (p.Gly49Asp)
NM_000081.4(LYST):c.1475A>G (p.His492Arg)
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
NM_000081.4(LYST):c.1481C>T (p.Ser494Leu)
NM_000081.4(LYST):c.1487G>A (p.Cys496Tyr)
NM_000081.4(LYST):c.148C>G (p.Arg50Gly)
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
NM_000081.4(LYST):c.1500_1501delinsAT (p.His501Tyr)
NM_000081.4(LYST):c.1508G>A (p.Arg503Gln)
NM_000081.4(LYST):c.1520C>T (p.Ser507Phe)
NM_000081.4(LYST):c.1530G>A (p.Met510Ile)
NM_000081.4(LYST):c.1532A>G (p.His511Arg)
NM_000081.4(LYST):c.1535A>G (p.His512Arg) rs759547330
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
NM_000081.4(LYST):c.1538A>G (p.His513Arg)
NM_000081.4(LYST):c.154T>C (p.Phe52Leu)
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.4(LYST):c.1575A>C (p.Lys525Asn)
NM_000081.4(LYST):c.1580A>G (p.Gln527Arg)
NM_000081.4(LYST):c.1588A>C (p.Lys530Gln)
NM_000081.4(LYST):c.1604A>G (p.Glu535Gly)
NM_000081.4(LYST):c.1609G>T (p.Ala537Ser)
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1615G>A (p.Gly539Arg)
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
NM_000081.4(LYST):c.1636C>T (p.Arg546Trp)
NM_000081.4(LYST):c.1648A>G (p.Ile550Val)
NM_000081.4(LYST):c.1652C>T (p.Ala551Val)
NM_000081.4(LYST):c.1654G>T (p.Val552Leu)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1675C>T (p.Arg559Cys)
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
NM_000081.4(LYST):c.167C>T (p.Thr56Ile)
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
NM_000081.4(LYST):c.1697T>G (p.Leu566Trp)
NM_000081.4(LYST):c.1716G>C (p.Gln572His)
NM_000081.4(LYST):c.1716G>T (p.Gln572His)
NM_000081.4(LYST):c.171G>T (p.Lys57Asn)
NM_000081.4(LYST):c.1724C>T (p.Ser575Leu)
NM_000081.4(LYST):c.1726G>A (p.Gly576Ser)
NM_000081.4(LYST):c.1727G>A (p.Gly576Asp)
NM_000081.4(LYST):c.1729G>A (p.Val577Ile)
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
NM_000081.4(LYST):c.1753T>G (p.Cys585Gly)
NM_000081.4(LYST):c.1757T>A (p.Met586Lys)
NM_000081.4(LYST):c.1759G>A (p.Asp587Asn)
NM_000081.4(LYST):c.1760A>G (p.Asp587Gly)
NM_000081.4(LYST):c.1765A>G (p.Lys589Glu)
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1767A>C (p.Lys589Asn)
NM_000081.4(LYST):c.1798A>G (p.Lys600Glu)
NM_000081.4(LYST):c.1800A>T (p.Lys600Asn)
NM_000081.4(LYST):c.1807G>T (p.Ala603Ser)
NM_000081.4(LYST):c.181A>G (p.Ile61Val)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.1843C>T (p.Leu615Phe)
NM_000081.4(LYST):c.184A>G (p.Ile62Val)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1857T>G (p.Ile619Met)
NM_000081.4(LYST):c.1862A>G (p.Asp621Gly)
NM_000081.4(LYST):c.1862A>T (p.Asp621Val)
NM_000081.4(LYST):c.1871GAG[1] (p.Gly625del)
NM_000081.4(LYST):c.1882A>C (p.Ile628Leu)
NM_000081.4(LYST):c.1897A>G (p.Lys633Glu)
NM_000081.4(LYST):c.1901A>G (p.Lys634Arg)
NM_000081.4(LYST):c.1903G>A (p.Ala635Thr)
NM_000081.4(LYST):c.1903G>T (p.Ala635Ser)
NM_000081.4(LYST):c.1907C>T (p.Ala636Val)
NM_000081.4(LYST):c.1912A>G (p.Asn638Asp)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.1915A>G (p.Ile639Val)
NM_000081.4(LYST):c.1918T>C (p.Cys640Arg)
NM_000081.4(LYST):c.1919G>T (p.Cys640Phe)
NM_000081.4(LYST):c.1924G>A (p.Val642Ile)
NM_000081.4(LYST):c.1924G>T (p.Val642Phe)
NM_000081.4(LYST):c.193-11T>A
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.1933G>A (p.Asp645Asn)
NM_000081.4(LYST):c.1939C>G (p.Leu647Val)
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.1952A>G (p.Glu651Gly)
NM_000081.4(LYST):c.1957A>G (p.Thr653Ala)
NM_000081.4(LYST):c.1964A>G (p.Gln655Arg)
NM_000081.4(LYST):c.1965G>C (p.Gln655His)
NM_000081.4(LYST):c.1967G>T (p.Gly656Val)
NM_000081.4(LYST):c.1970A>G (p.Asn657Ser)
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.1988T>C (p.Leu663Pro)
NM_000081.4(LYST):c.1990T>C (p.Ser664Pro)
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
NM_000081.4(LYST):c.200C>T (p.Thr67Ile)
NM_000081.4(LYST):c.2022T>A (p.Phe674Leu)
NM_000081.4(LYST):c.2029A>G (p.Ile677Val)
NM_000081.4(LYST):c.2029A>T (p.Ile677Phe)
NM_000081.4(LYST):c.2030T>C (p.Ile677Thr)
NM_000081.4(LYST):c.2045G>A (p.Gly682Glu)
NM_000081.4(LYST):c.2065A>G (p.Lys689Glu)
NM_000081.4(LYST):c.2075C>T (p.Ala692Val)
NM_000081.4(LYST):c.2078T>C (p.Leu693Ser)
NM_000081.4(LYST):c.2098G>C (p.Val700Leu)
NM_000081.4(LYST):c.2125A>G (p.Ile709Val)
NM_000081.4(LYST):c.2129A>G (p.Gln710Arg)
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
NM_000081.4(LYST):c.2153T>C (p.Leu718Ser)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2170A>G (p.Ile724Val)
NM_000081.4(LYST):c.2172A>G (p.Ile724Met)
NM_000081.4(LYST):c.2179C>G (p.Gln727Glu)
NM_000081.4(LYST):c.2180A>G (p.Gln727Arg)
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
NM_000081.4(LYST):c.2239C>T (p.His747Tyr)
NM_000081.4(LYST):c.2255T>A (p.Leu752Gln)
NM_000081.4(LYST):c.2255T>G (p.Leu752Arg)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2260G>A (p.Val754Ile)
NM_000081.4(LYST):c.2274A>T (p.Gln758His)
NM_000081.4(LYST):c.2281G>C (p.Val761Leu)
NM_000081.4(LYST):c.2288G>A (p.Ser763Asn)
NM_000081.4(LYST):c.2291A>G (p.His764Arg)
NM_000081.4(LYST):c.22C>G (p.Leu8Val)
NM_000081.4(LYST):c.2307G>T (p.Leu769Phe)
NM_000081.4(LYST):c.2309C>A (p.Pro770His)
NM_000081.4(LYST):c.2311C>G (p.Gln771Glu)
NM_000081.4(LYST):c.2316C>G (p.Asp772Glu)
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
NM_000081.4(LYST):c.2317G>T (p.Val773Leu)
NM_000081.4(LYST):c.2319_2320delinsAT (p.Leu774Phe) rs2102878203
NM_000081.4(LYST):c.2339C>T (p.Thr780Ile)
NM_000081.4(LYST):c.2347A>G (p.Ile783Val)
NM_000081.4(LYST):c.235C>G (p.Leu79Val)
NM_000081.4(LYST):c.2363+3T>C
NM_000081.4(LYST):c.2365G>T (p.Val789Leu)
NM_000081.4(LYST):c.2368A>G (p.Ile790Val)
NM_000081.4(LYST):c.2384T>C (p.Leu795Ser)
NM_000081.4(LYST):c.2392A>G (p.Asn798Asp)
NM_000081.4(LYST):c.2395_2396delinsAT (p.Gly799Ile)
NM_000081.4(LYST):c.2404C>A (p.Gln802Lys)
NM_000081.4(LYST):c.2413G>A (p.Glu805Lys)
NM_000081.4(LYST):c.2434A>G (p.Ile812Val)
NM_000081.4(LYST):c.2440A>C (p.Ser814Arg)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2478C>G (p.Ser826Arg)
NM_000081.4(LYST):c.247G>A (p.Val83Ile)
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.4(LYST):c.2509C>G (p.Pro837Ala)
NM_000081.4(LYST):c.2514T>A (p.Asp838Glu)
NM_000081.4(LYST):c.2518G>A (p.Asp840Asn)
NM_000081.4(LYST):c.2521G>C (p.Gly841Arg)
NM_000081.4(LYST):c.2522G>A (p.Gly841Glu)
NM_000081.4(LYST):c.2531T>G (p.Ile844Ser)
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
NM_000081.4(LYST):c.2546T>C (p.Leu849Ser)
NM_000081.4(LYST):c.2554G>A (p.Val852Ile)
NM_000081.4(LYST):c.2563G>A (p.Gly855Ser)
NM_000081.4(LYST):c.2567C>T (p.Thr856Ile)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.259C>A (p.Pro87Thr)
NM_000081.4(LYST):c.2600C>G (p.Ser867Cys)
NM_000081.4(LYST):c.2616C>A (p.Ser872Arg)
NM_000081.4(LYST):c.2624A>T (p.Tyr875Phe)
NM_000081.4(LYST):c.2627C>T (p.Ala876Val)
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.4(LYST):c.2636A>G (p.Lys879Arg)
NM_000081.4(LYST):c.2641G>C (p.Ala881Pro)
NM_000081.4(LYST):c.2647C>G (p.Pro883Ala)
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
NM_000081.4(LYST):c.2674G>C (p.Asp892His)
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
NM_000081.4(LYST):c.2708G>C (p.Cys903Ser)
NM_000081.4(LYST):c.2710G>T (p.Val904Leu)
NM_000081.4(LYST):c.2724C>G (p.Cys908Trp)
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
NM_000081.4(LYST):c.2729G>A (p.Ser910Asn)
NM_000081.4(LYST):c.2746_2747insCCG (p.Ser915_Asp916insAla)
NM_000081.4(LYST):c.2749A>G (p.Arg917Gly)
NM_000081.4(LYST):c.2756C>T (p.Ser919Leu)
NM_000081.4(LYST):c.2758G>A (p.Ala920Thr)
NM_000081.4(LYST):c.2777C>T (p.Thr926Ile)
NM_000081.4(LYST):c.2783G>A (p.Gly928Asp)
NM_000081.4(LYST):c.278C>G (p.Ala93Gly)
NM_000081.4(LYST):c.2790C>G (p.Asp930Glu)
NM_000081.4(LYST):c.2792G>C (p.Ser931Thr)
NM_000081.4(LYST):c.2801G>A (p.Ser934Asn)
NM_000081.4(LYST):c.2803G>A (p.Glu935Lys)
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.4(LYST):c.2806C>G (p.Pro936Ala)
NM_000081.4(LYST):c.2807C>A (p.Pro936His)
NM_000081.4(LYST):c.2807C>G (p.Pro936Arg)
NM_000081.4(LYST):c.2812A>G (p.Ser938Gly)
NM_000081.4(LYST):c.2813G>T (p.Ser938Ile)
NM_000081.4(LYST):c.2816A>G (p.His939Arg)
NM_000081.4(LYST):c.2827T>C (p.Cys943Arg)
NM_000081.4(LYST):c.2827T>G (p.Cys943Gly)
NM_000081.4(LYST):c.2828G>A (p.Cys943Tyr)
NM_000081.4(LYST):c.283+4T>C
NM_000081.4(LYST):c.2830A>G (p.Ile944Val)
NM_000081.4(LYST):c.2839G>A (p.Glu947Lys)
NM_000081.4(LYST):c.2842A>G (p.Ser948Gly)
NM_000081.4(LYST):c.2845C>T (p.Leu949Phe)
NM_000081.4(LYST):c.2848G>A (p.Val950Ile)
NM_000081.4(LYST):c.2848G>C (p.Val950Leu)
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.2860C>T (p.Pro954Ser)
NM_000081.4(LYST):c.2882C>T (p.Ala961Val)
NM_000081.4(LYST):c.28C>T (p.Arg10Cys)
NM_000081.4(LYST):c.2902C>T (p.Arg968Cys)
NM_000081.4(LYST):c.2903G>A (p.Arg968His)
NM_000081.4(LYST):c.2909T>C (p.Ile970Thr) rs141758032
NM_000081.4(LYST):c.2909T>G (p.Ile970Ser)
NM_000081.4(LYST):c.2916G>A (p.Met972Ile)
NM_000081.4(LYST):c.2926G>A (p.Val976Met)
NM_000081.4(LYST):c.2931C>A (p.Phe977Leu)
NM_000081.4(LYST):c.2933A>G (p.Gln978Arg)
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.4(LYST):c.2948G>A (p.Arg983Lys)
NM_000081.4(LYST):c.2959T>G (p.Phe987Val)
NM_000081.4(LYST):c.2968T>C (p.Cys990Arg)
NM_000081.4(LYST):c.296C>T (p.Pro99Leu)
NM_000081.4(LYST):c.2971C>T (p.His991Tyr)
NM_000081.4(LYST):c.2972A>G (p.His991Arg)
NM_000081.4(LYST):c.2995C>G (p.Gln999Glu)
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
NM_000081.4(LYST):c.3029G>C (p.Gly1010Ala)
NM_000081.4(LYST):c.3031A>G (p.Lys1011Glu)
NM_000081.4(LYST):c.3041G>C (p.Gly1014Ala)
NM_000081.4(LYST):c.3044A>T (p.Asp1015Val)
NM_000081.4(LYST):c.3047C>T (p.Thr1016Ile)
NM_000081.4(LYST):c.3061A>C (p.Asn1021His)
NM_000081.4(LYST):c.3065A>G (p.Gln1022Arg)
NM_000081.4(LYST):c.3073A>C (p.Asn1025His)
NM_000081.4(LYST):c.3078A>C (p.Arg1026Ser)
NM_000081.4(LYST):c.3088C>T (p.Pro1030Ser)
NM_000081.4(LYST):c.3091A>G (p.Lys1031Glu)
NM_000081.4(LYST):c.3092A>G (p.Lys1031Arg)
NM_000081.4(LYST):c.3100A>G (p.Met1034Val)
NM_000081.4(LYST):c.3110A>G (p.Asp1037Gly)
NM_000081.4(LYST):c.3114A>T (p.Leu1038Phe)
NM_000081.4(LYST):c.3119C>G (p.Ser1040Cys)
NM_000081.4(LYST):c.3123G>A (p.Leu1041=)
NM_000081.4(LYST):c.3125C>T (p.Ala1042Val)
NM_000081.4(LYST):c.3127A>G (p.Ile1043Val)
NM_000081.4(LYST):c.3128T>C (p.Ile1043Thr)
NM_000081.4(LYST):c.312_314del (p.Ile105del)
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.4(LYST):c.3137A>G (p.Asp1046Gly)
NM_000081.4(LYST):c.3142A>T (p.Ile1048Leu)
NM_000081.4(LYST):c.3171_3172delinsAG (p.Ser1058Gly)
NM_000081.4(LYST):c.3173G>T (p.Ser1058Ile)
NM_000081.4(LYST):c.3179A>G (p.Asp1060Gly)
NM_000081.4(LYST):c.3183T>A (p.Ser1061Arg)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
NM_000081.4(LYST):c.3206A>G (p.His1069Arg)
NM_000081.4(LYST):c.320C>A (p.Thr107Asn)
NM_000081.4(LYST):c.3223G>A (p.Val1075Met)
NM_000081.4(LYST):c.3235T>G (p.Ser1079Ala)
NM_000081.4(LYST):c.3250G>T (p.Ala1084Ser)
NM_000081.4(LYST):c.3254C>T (p.Pro1085Leu)
NM_000081.4(LYST):c.3259G>A (p.Glu1087Lys)
NM_000081.4(LYST):c.326A>T (p.Glu109Val)
NM_000081.4(LYST):c.3286A>G (p.Ser1096Gly)
NM_000081.4(LYST):c.3287G>A (p.Ser1096Asn)
NM_000081.4(LYST):c.3293C>T (p.Thr1098Ile)
NM_000081.4(LYST):c.3325C>G (p.Leu1109Val)
NM_000081.4(LYST):c.3331G>A (p.Ala1111Thr)
NM_000081.4(LYST):c.3345T>A (p.His1115Gln)
NM_000081.4(LYST):c.3362A>G (p.Gln1121Arg)
NM_000081.4(LYST):c.3370A>G (p.Met1124Val)
NM_000081.4(LYST):c.3375_3380del (p.1125_1126EL[1])
NM_000081.4(LYST):c.3386C>A (p.Pro1129His)
NM_000081.4(LYST):c.3392A>G (p.Gln1131Arg)
NM_000081.4(LYST):c.3401C>T (p.Ser1134Phe)
NM_000081.4(LYST):c.3403G>A (p.Val1135Met)
NM_000081.4(LYST):c.3413T>C (p.Ile1138Thr)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.343C>G (p.Gln115Glu)
NM_000081.4(LYST):c.3448A>G (p.Lys1150Glu)
NM_000081.4(LYST):c.3451G>C (p.Val1151Leu)
NM_000081.4(LYST):c.3455T>C (p.Ile1152Thr)
NM_000081.4(LYST):c.3467T>C (p.Leu1156Pro)
NM_000081.4(LYST):c.3474G>T (p.Lys1158Asn)
NM_000081.4(LYST):c.3497G>A (p.Arg1166Gln)
NM_000081.4(LYST):c.3499G>A (p.Val1167Ile)
NM_000081.4(LYST):c.3505C>A (p.Leu1169Ile)
NM_000081.4(LYST):c.3505C>G (p.Leu1169Val)
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
NM_000081.4(LYST):c.3515A>T (p.Tyr1172Phe)
NM_000081.4(LYST):c.3518C>T (p.Ser1173Leu)
NM_000081.4(LYST):c.3529_3531del (p.Glu1177del)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.353C>T (p.Thr118Ile)
NM_000081.4(LYST):c.3544A>G (p.Met1182Val)
NM_000081.4(LYST):c.3553A>G (p.Lys1185Glu)
NM_000081.4(LYST):c.3571G>A (p.Glu1191Lys)
NM_000081.4(LYST):c.3573A>C (p.Glu1191Asp)
NM_000081.4(LYST):c.3596A>G (p.Asp1199Gly)
NM_000081.4(LYST):c.3605AAG[1] (p.Glu1203del)
NM_000081.4(LYST):c.3613G>A (p.Glu1205Lys)
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
NM_000081.4(LYST):c.3620C>T (p.Ser1207Phe)
NM_000081.4(LYST):c.3624G>C (p.Gln1208His)
NM_000081.4(LYST):c.3626G>A (p.Cys1209Tyr)
NM_000081.4(LYST):c.3631A>C (p.Ser1211Arg)
NM_000081.4(LYST):c.3643T>G (p.Leu1215Val)
NM_000081.4(LYST):c.3644T>C (p.Leu1215Ser)
NM_000081.4(LYST):c.3646G>A (p.Val1216Ile)
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del) rs770679237
NM_000081.4(LYST):c.3658G>A (p.Gly1220Ser)
NM_000081.4(LYST):c.3659G>T (p.Gly1220Val)
NM_000081.4(LYST):c.367C>T (p.His123Tyr)
NM_000081.4(LYST):c.3692A>T (p.Asp1231Val)
NM_000081.4(LYST):c.3695G>A (p.Gly1232Asp)
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.4(LYST):c.3703C>A (p.Gln1235Lys)
NM_000081.4(LYST):c.3704A>C (p.Gln1235Pro)
NM_000081.4(LYST):c.3713G>A (p.Gly1238Glu)
NM_000081.4(LYST):c.3728C>A (p.Ser1243Tyr)
NM_000081.4(LYST):c.3730G>C (p.Glu1244Gln)
NM_000081.4(LYST):c.3739G>C (p.Gly1247Arg)
NM_000081.4(LYST):c.3746G>A (p.Ser1249Asn)
NM_000081.4(LYST):c.3754A>G (p.Ser1252Gly)
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.4(LYST):c.3775G>A (p.Glu1259Lys)
NM_000081.4(LYST):c.3789A>C (p.Gln1263His)
NM_000081.4(LYST):c.3795A>T (p.Glu1265Asp)
NM_000081.4(LYST):c.3824A>G (p.Glu1275Gly)
NM_000081.4(LYST):c.3834G>C (p.Leu1278Phe)
NM_000081.4(LYST):c.383C>A (p.Ala128Asp)
NM_000081.4(LYST):c.3844A>G (p.Ser1282Gly)
NM_000081.4(LYST):c.3850G>C (p.Ala1284Pro)
NM_000081.4(LYST):c.3851C>T (p.Ala1284Val)
NM_000081.4(LYST):c.3862G>A (p.Val1288Met)
NM_000081.4(LYST):c.3885T>A (p.Ser1295Arg)
NM_000081.4(LYST):c.388T>A (p.Ser130Thr)
NM_000081.4(LYST):c.3911A>G (p.Glu1304Gly)
NM_000081.4(LYST):c.3943A>C (p.Thr1315Pro)
NM_000081.4(LYST):c.3958T>A (p.Leu1320Ile)
NM_000081.4(LYST):c.395A>G (p.Gln132Arg)
NM_000081.4(LYST):c.3965G>T (p.Gly1322Val)
NM_000081.4(LYST):c.3971T>C (p.Leu1324Ser)
NM_000081.4(LYST):c.3972G>T (p.Leu1324Phe)
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.3997G>C (p.Asp1333His)
NM_000081.4(LYST):c.4005A>T (p.Gln1335His)
NM_000081.4(LYST):c.4054A>G (p.Arg1352Gly)
NM_000081.4(LYST):c.4058C>T (p.Thr1353Ile)
NM_000081.4(LYST):c.4069G>A (p.Glu1357Lys)
NM_000081.4(LYST):c.406A>G (p.Lys136Glu)
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
NM_000081.4(LYST):c.4075A>G (p.Thr1359Ala)
NM_000081.4(LYST):c.4081C>T (p.Leu1361Phe)
NM_000081.4(LYST):c.4084T>G (p.Leu1362Val)
NM_000081.4(LYST):c.4099G>A (p.Glu1367Lys)
NM_000081.4(LYST):c.4100A>G (p.Glu1367Gly)
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.4(LYST):c.4112G>A (p.Cys1371Tyr)
NM_000081.4(LYST):c.4123C>A (p.Leu1375Ile)
NM_000081.4(LYST):c.4132G>A (p.Gly1378Ser)
NM_000081.4(LYST):c.4133G>T (p.Gly1378Val)
NM_000081.4(LYST):c.4162A>G (p.Thr1388Ala)
NM_000081.4(LYST):c.4165A>G (p.Met1389Val)
NM_000081.4(LYST):c.4187C>G (p.Thr1396Ser)
NM_000081.4(LYST):c.418T>C (p.Phe140Leu)
NM_000081.4(LYST):c.4201C>T (p.His1401Tyr)
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
NM_000081.4(LYST):c.4222G>A (p.Gly1408Ser)
NM_000081.4(LYST):c.4228T>A (p.Ser1410Thr)
NM_000081.4(LYST):c.422G>A (p.Arg141Gln)
NM_000081.4(LYST):c.4235A>G (p.Gln1412Arg)
NM_000081.4(LYST):c.4247G>A (p.Gly1416Glu)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4271G>A (p.Gly1424Asp)
NM_000081.4(LYST):c.427A>C (p.Ser143Arg)
NM_000081.4(LYST):c.4289G>A (p.Arg1430Gln)
NM_000081.4(LYST):c.4297C>T (p.Arg1433Trp)
NM_000081.4(LYST):c.4298G>A (p.Arg1433Gln)
NM_000081.4(LYST):c.4300A>C (p.Ser1434Arg)
NM_000081.4(LYST):c.4309G>A (p.Glu1437Lys)
NM_000081.4(LYST):c.431GAC[1] (p.Arg145del)
NM_000081.4(LYST):c.4325G>A (p.Ser1442Asn) rs1271144759
NM_000081.4(LYST):c.4330C>T (p.Pro1444Ser)
NM_000081.4(LYST):c.434G>A (p.Arg145Gln)
NM_000081.4(LYST):c.4357A>G (p.Ile1453Val)
NM_000081.4(LYST):c.4360G>T (p.Ala1454Ser)
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
NM_000081.4(LYST):c.4380G>T (p.Leu1460Phe) rs768247031
NM_000081.4(LYST):c.4397G>T (p.Trp1466Leu)
NM_000081.4(LYST):c.439C>T (p.Arg147Cys)
NM_000081.4(LYST):c.43G>A (p.Asp15Asn)
NM_000081.4(LYST):c.4403A>G (p.His1468Arg)
NM_000081.4(LYST):c.4421G>A (p.Ser1474Asn)
NM_000081.4(LYST):c.4421G>C (p.Ser1474Thr)
NM_000081.4(LYST):c.4448G>A (p.Cys1483Tyr)
NM_000081.4(LYST):c.4450A>G (p.Ile1484Val)
NM_000081.4(LYST):c.446T>C (p.Ile149Thr)
NM_000081.4(LYST):c.4484A>G (p.Lys1495Arg)
NM_000081.4(LYST):c.4485G>C (p.Lys1495Asn)
NM_000081.4(LYST):c.4487A>C (p.Lys1496Thr)
NM_000081.4(LYST):c.4488G>T (p.Lys1496Asn)
NM_000081.4(LYST):c.449C>T (p.Thr150Ile)
NM_000081.4(LYST):c.4501A>C (p.Asn1501His)
NM_000081.4(LYST):c.4508C>T (p.Ser1503Leu)
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
NM_000081.4(LYST):c.452A>G (p.His151Arg)
NM_000081.4(LYST):c.4538G>A (p.Gly1513Asp)
NM_000081.4(LYST):c.4545G>C (p.Glu1515Asp)
NM_000081.4(LYST):c.4548C>A (p.Ser1516Arg)
NM_000081.4(LYST):c.4549G>A (p.Asp1517Asn)
NM_000081.4(LYST):c.455G>A (p.Arg152His)
NM_000081.4(LYST):c.4577A>G (p.Asn1526Ser)
NM_000081.4(LYST):c.4588A>G (p.Arg1530Gly)
NM_000081.4(LYST):c.4589G>C (p.Arg1530Thr)
NM_000081.4(LYST):c.4590A>T (p.Arg1530Ser)
NM_000081.4(LYST):c.4615A>G (p.Ile1539Val)
NM_000081.4(LYST):c.4621T>A (p.Ser1541Thr)
NM_000081.4(LYST):c.4637C>G (p.Ala1546Gly)
NM_000081.4(LYST):c.4649A>G (p.Gln1550Arg)
NM_000081.4(LYST):c.4651G>A (p.Val1551Met)
NM_000081.4(LYST):c.4661A>T (p.Asp1554Val)
NM_000081.4(LYST):c.4670A>G (p.Asn1557Ser)
NM_000081.4(LYST):c.4676C>T (p.Thr1559Ile)
NM_000081.4(LYST):c.4678C>T (p.Leu1560Phe)
NM_000081.4(LYST):c.4682T>C (p.Ile1561Thr)
NM_000081.4(LYST):c.4688+6G>A
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.4690G>A (p.Val1564Met)
NM_000081.4(LYST):c.4696A>T (p.Met1566Leu)
NM_000081.4(LYST):c.4716G>A (p.Met1572Ile)
NM_000081.4(LYST):c.4720G>A (p.Ala1574Thr)
NM_000081.4(LYST):c.4754A>G (p.Asn1585Ser)
NM_000081.4(LYST):c.4771A>G (p.Lys1591Glu)
NM_000081.4(LYST):c.4786G>A (p.Val1596Ile)
NM_000081.4(LYST):c.4793C>A (p.Thr1598Asn)
NM_000081.4(LYST):c.4793C>G (p.Thr1598Ser)
NM_000081.4(LYST):c.4793C>T (p.Thr1598Ile)
NM_000081.4(LYST):c.4801C>A (p.Gln1601Lys)
NM_000081.4(LYST):c.4803G>T (p.Gln1601His)
NM_000081.4(LYST):c.4805A>C (p.Gln1602Pro)
NM_000081.4(LYST):c.4808C>T (p.Pro1603Leu)
NM_000081.4(LYST):c.4845A>G (p.Ile1615Met)
NM_000081.4(LYST):c.4853C>G (p.Ser1618Cys)
NM_000081.4(LYST):c.4862+3A>G
NM_000081.4(LYST):c.4866G>T (p.Lys1622Asn)
NM_000081.4(LYST):c.4873G>A (p.Val1625Ile)
NM_000081.4(LYST):c.4876A>C (p.Thr1626Pro)
NM_000081.4(LYST):c.4876A>G (p.Thr1626Ala)
NM_000081.4(LYST):c.4886T>G (p.Phe1629Cys)
NM_000081.4(LYST):c.4904C>G (p.Thr1635Arg)
NM_000081.4(LYST):c.4904C>T (p.Thr1635Ile)
NM_000081.4(LYST):c.4920T>G (p.Asp1640Glu)
NM_000081.4(LYST):c.4952G>C (p.Cys1651Ser)
NM_000081.4(LYST):c.4972T>C (p.Phe1658Leu)
NM_000081.4(LYST):c.4972T>G (p.Phe1658Val)
NM_000081.4(LYST):c.4982T>C (p.Leu1661Ser)
NM_000081.4(LYST):c.4984G>A (p.Ala1662Thr)
NM_000081.4(LYST):c.4996G>A (p.Asp1666Asn)
NM_000081.4(LYST):c.5019C>A (p.Phe1673Leu)
NM_000081.4(LYST):c.5020A>G (p.Asn1674Asp)
NM_000081.4(LYST):c.5022C>T (p.Asn1674=)
NM_000081.4(LYST):c.5023+3G>A
NM_000081.4(LYST):c.5026G>A (p.Ala1676Thr)
NM_000081.4(LYST):c.5029A>G (p.Lys1677Glu)
NM_000081.4(LYST):c.5075A>G (p.Asn1692Ser)
NM_000081.4(LYST):c.5094A>G (p.Pro1698=)
NM_000081.4(LYST):c.50A>G (p.Asn17Ser)
NM_000081.4(LYST):c.5113_5115del (p.Val1705del)
NM_000081.4(LYST):c.5117A>G (p.Asn1706Ser)
NM_000081.4(LYST):c.5129A>G (p.Lys1710Arg)
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
NM_000081.4(LYST):c.5144A>C (p.Glu1715Ala)
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
NM_000081.4(LYST):c.517G>C (p.Asp173His)
NM_000081.4(LYST):c.5183C>T (p.Thr1728Ile)
NM_000081.4(LYST):c.5185A>G (p.Lys1729Glu)
NM_000081.4(LYST):c.5186A>T (p.Lys1729Met)
NM_000081.4(LYST):c.5191G>T (p.Asp1731Tyr)
NM_000081.4(LYST):c.5195T>C (p.Val1732Ala)
NM_000081.4(LYST):c.5200A>G (p.Ile1734Val)
NM_000081.4(LYST):c.5214+3A>G
NM_000081.4(LYST):c.5214+5G>C
NM_000081.4(LYST):c.5254C>G (p.Gln1752Glu)
NM_000081.4(LYST):c.5256G>C (p.Gln1752His)
NM_000081.4(LYST):c.5263A>G (p.Ile1755Val)
NM_000081.4(LYST):c.527G>A (p.Gly176Asp)
NM_000081.4(LYST):c.5280T>G (p.Ile1760Met)
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
NM_000081.4(LYST):c.5291G>A (p.Gly1764Asp) rs35413645
NM_000081.4(LYST):c.5291G>T (p.Gly1764Val)
NM_000081.4(LYST):c.5293C>G (p.Gln1765Glu)
NM_000081.4(LYST):c.5298G>A (p.Met1766Ile)
NM_000081.4(LYST):c.52C>T (p.Arg18Trp)
NM_000081.4(LYST):c.5315A>G (p.Gln1772Arg)
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
NM_000081.4(LYST):c.5325C>A (p.Phe1775Leu)
NM_000081.4(LYST):c.5333AAG[1] (p.Glu1779del)
NM_000081.4(LYST):c.5363A>G (p.His1788Arg)
NM_000081.4(LYST):c.5365C>A (p.His1789Asn)
NM_000081.4(LYST):c.5373_5374delinsAG (p.Asn1792Asp)
NM_000081.4(LYST):c.5375A>T (p.Asn1792Ile)
NM_000081.4(LYST):c.5384C>T (p.Pro1795Leu)
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
NM_000081.4(LYST):c.5414T>A (p.Leu1805Gln)
NM_000081.4(LYST):c.5419G>A (p.Glu1807Lys)
NM_000081.4(LYST):c.5432C>A (p.Thr1811Asn)
NM_000081.4(LYST):c.5435G>A (p.Gly1812Asp)
NM_000081.4(LYST):c.5437A>C (p.Ile1813Leu)
NM_000081.4(LYST):c.5437A>G (p.Ile1813Val)
NM_000081.4(LYST):c.543G>C (p.Lys181Asn)
NM_000081.4(LYST):c.544C>G (p.His182Asp)
NM_000081.4(LYST):c.5455G>T (p.Ala1819Ser)
NM_000081.4(LYST):c.5456C>T (p.Ala1819Val)
NM_000081.4(LYST):c.5479T>C (p.Cys1827Arg)
NM_000081.4(LYST):c.5491C>G (p.Gln1831Glu)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5513T>C (p.Ile1838Thr)
NM_000081.4(LYST):c.5533A>G (p.Asn1845Asp)
NM_000081.4(LYST):c.5549A>G (p.His1850Arg)
NM_000081.4(LYST):c.5578A>C (p.Met1860Leu)
NM_000081.4(LYST):c.5588A>G (p.Gln1863Arg)
NM_000081.4(LYST):c.5590G>T (p.Val1864Leu) rs139694536
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5611A>C (p.Ile1871Leu)
NM_000081.4(LYST):c.5614G>A (p.Val1872Ile)
NM_000081.4(LYST):c.5636C>A (p.Thr1879Asn)
NM_000081.4(LYST):c.5648G>T (p.Gly1883Val)
NM_000081.4(LYST):c.5668A>G (p.Ile1890Val)
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.4(LYST):c.5687G>A (p.Gly1896Glu)
NM_000081.4(LYST):c.5689G>A (p.Glu1897Lys)
NM_000081.4(LYST):c.5696A>C (p.Lys1899Thr)
NM_000081.4(LYST):c.5701G>A (p.Asp1901Asn)
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
NM_000081.4(LYST):c.5707G>A (p.Asp1903Asn)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.5755C>T (p.Leu1919Phe)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.5776A>G (p.Lys1926Glu)
NM_000081.4(LYST):c.5789G>A (p.Gly1930Asp)
NM_000081.4(LYST):c.5800A>G (p.Thr1934Ala)
NM_000081.4(LYST):c.5810C>A (p.Ala1937Glu)
NM_000081.4(LYST):c.581C>T (p.Ser194Leu)
NM_000081.4(LYST):c.5842C>T (p.His1948Tyr)
NM_000081.4(LYST):c.5864A>G (p.Lys1955Arg)
NM_000081.4(LYST):c.586C>G (p.Pro196Ala)
NM_000081.4(LYST):c.586C>T (p.Pro196Ser)
NM_000081.4(LYST):c.5890C>T (p.His1964Tyr)
NM_000081.4(LYST):c.5905A>C (p.Thr1969Pro)
NM_000081.4(LYST):c.5912A>G (p.Gln1971Arg)
NM_000081.4(LYST):c.5920C>G (p.Gln1974Glu)
NM_000081.4(LYST):c.5927A>G (p.Tyr1976Cys)
NM_000081.4(LYST):c.5935G>A (p.Gly1979Arg)
NM_000081.4(LYST):c.5954C>G (p.Pro1985Arg)
NM_000081.4(LYST):c.5957G>A (p.Arg1986Gln)
NM_000081.4(LYST):c.5971T>C (p.Ser1991Pro)
NM_000081.4(LYST):c.5987T>C (p.Ile1996Thr)
NM_000081.4(LYST):c.5989G>A (p.Ala1997Thr)
NM_000081.4(LYST):c.6019G>A (p.Glu2007Lys)
NM_000081.4(LYST):c.6031A>G (p.Ile2011Val)
NM_000081.4(LYST):c.6058C>T (p.His2020Tyr)
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
NM_000081.4(LYST):c.6079G>A (p.Val2027Ile)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.607G>C (p.Ala203Pro)
NM_000081.4(LYST):c.6089A>G (p.Asn2030Ser)
NM_000081.4(LYST):c.6097A>C (p.Asn2033His)
NM_000081.4(LYST):c.6113T>C (p.Leu2038Ser)
NM_000081.4(LYST):c.6118A>G (p.Ile2040Val)
NM_000081.4(LYST):c.6121+5G>A
NM_000081.4(LYST):c.6121+5del
NM_000081.4(LYST):c.6128A>G (p.Lys2043Arg)
NM_000081.4(LYST):c.6148C>T (p.Arg2050Trp)
NM_000081.4(LYST):c.6154A>C (p.Ile2052Leu)
NM_000081.4(LYST):c.6154A>G (p.Ile2052Val)
NM_000081.4(LYST):c.6163C>A (p.Leu2055Met)
NM_000081.4(LYST):c.6170A>G (p.His2057Arg)
NM_000081.4(LYST):c.6176G>A (p.Ser2059Asn)
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6185G>C (p.Gly2062Ala)
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
NM_000081.4(LYST):c.619C>T (p.Arg207Cys)
NM_000081.4(LYST):c.6203C>T (p.Pro2068Leu)
NM_000081.4(LYST):c.620G>A (p.Arg207His)
NM_000081.4(LYST):c.6213G>A (p.Met2071Ile)
NM_000081.4(LYST):c.6214G>C (p.Val2072Leu)
NM_000081.4(LYST):c.6217A>G (p.Ile2073Val)
NM_000081.4(LYST):c.6224C>T (p.Pro2075Leu)
NM_000081.4(LYST):c.6229G>A (p.Gly2077Ser)
NM_000081.4(LYST):c.6238G>A (p.Ala2080Thr)
NM_000081.4(LYST):c.6238G>C (p.Ala2080Pro)
NM_000081.4(LYST):c.6253+19G>T
NM_000081.4(LYST):c.6260A>G (p.Asn2087Ser)
NM_000081.4(LYST):c.6266C>A (p.Ser2089Tyr)
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.4(LYST):c.6288G>A (p.Met2096Ile)
NM_000081.4(LYST):c.6299T>C (p.Met2100Thr)
NM_000081.4(LYST):c.6305G>A (p.Arg2102His)
NM_000081.4(LYST):c.631A>G (p.Lys211Glu)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.6331A>T (p.Thr2111Ser)
NM_000081.4(LYST):c.6347C>T (p.Thr2116Met)
NM_000081.4(LYST):c.6380G>A (p.Cys2127Tyr)
NM_000081.4(LYST):c.6413C>T (p.Thr2138Ile)
NM_000081.4(LYST):c.6440A>G (p.Gln2147Arg)
NM_000081.4(LYST):c.6445T>A (p.Ser2149Thr)
NM_000081.4(LYST):c.6445T>G (p.Ser2149Ala)
NM_000081.4(LYST):c.6446C>A (p.Ser2149Tyr)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6458C>A (p.Ser2153Tyr)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.646C>T (p.Pro216Ser)
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
NM_000081.4(LYST):c.6479A>G (p.Lys2160Arg)
NM_000081.4(LYST):c.6493A>G (p.Ile2165Val)
NM_000081.4(LYST):c.6494T>C (p.Ile2165Thr)
NM_000081.4(LYST):c.6496A>G (p.Ser2166Gly)
NM_000081.4(LYST):c.6505G>A (p.Glu2169Lys)
NM_000081.4(LYST):c.650A>T (p.Asp217Val)
NM_000081.4(LYST):c.6545C>T (p.Ser2182Leu)
NM_000081.4(LYST):c.6556T>C (p.Ser2186Pro)
NM_000081.4(LYST):c.655A>G (p.Met219Val)
NM_000081.4(LYST):c.6562A>G (p.Ser2188Gly)
NM_000081.4(LYST):c.6565G>A (p.Asp2189Asn)
NM_000081.4(LYST):c.6567T>G (p.Asp2189Glu)
NM_000081.4(LYST):c.6569T>A (p.Val2190Asp)
NM_000081.4(LYST):c.6569T>G (p.Val2190Gly)
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
NM_000081.4(LYST):c.6572C>T (p.Pro2191Leu)
NM_000081.4(LYST):c.6577G>C (p.Gly2193Arg)
NM_000081.4(LYST):c.6580G>T (p.Val2194Leu)
NM_000081.4(LYST):c.6587G>C (p.Gly2196Ala)
NM_000081.4(LYST):c.6593C>A (p.Pro2198Gln)
NM_000081.4(LYST):c.6595G>C (p.Val2199Leu)
NM_000081.4(LYST):c.6595G>T (p.Val2199Leu)
NM_000081.4(LYST):c.6614A>C (p.Lys2205Thr)
NM_000081.4(LYST):c.6636G>C (p.Arg2212Ser)
NM_000081.4(LYST):c.6646G>C (p.Asp2216His)
NM_000081.4(LYST):c.6653C>G (p.Pro2218Arg)
NM_000081.4(LYST):c.6656G>A (p.Gly2219Glu)
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
NM_000081.4(LYST):c.6674G>A (p.Arg2225His)
NM_000081.4(LYST):c.6674G>T (p.Arg2225Leu)
NM_000081.4(LYST):c.6677G>A (p.Arg2226Gln)
NM_000081.4(LYST):c.6695G>A (p.Gly2232Glu)
NM_000081.4(LYST):c.6697T>A (p.Leu2233Met)
NM_000081.4(LYST):c.6703T>G (p.Ser2235Ala)
NM_000081.4(LYST):c.6708C>G (p.Phe2236Leu)
NM_000081.4(LYST):c.6710A>G (p.Gln2237Arg)
NM_000081.4(LYST):c.6724A>C (p.Thr2242Pro)
NM_000081.4(LYST):c.6727A>G (p.Ile2243Val)
NM_000081.4(LYST):c.6735C>G (p.Ser2245Arg)
NM_000081.4(LYST):c.6737T>C (p.Leu2246Pro)
NM_000081.4(LYST):c.674G>A (p.Arg225Lys)
NM_000081.4(LYST):c.6764G>C (p.Gly2255Ala)
NM_000081.4(LYST):c.6769G>T (p.Ala2257Ser)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6775G>A (p.Val2259Ile)
NM_000081.4(LYST):c.6775G>T (p.Val2259Phe)
NM_000081.4(LYST):c.677A>G (p.Glu226Gly)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6782G>T (p.Arg2261Leu)
NM_000081.4(LYST):c.6786G>T (p.Trp2262Cys)
NM_000081.4(LYST):c.6790A>C (p.Ser2264Arg)
NM_000081.4(LYST):c.6793C>G (p.Leu2265Val)
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
NM_000081.4(LYST):c.6796G>C (p.Val2266Leu)
NM_000081.4(LYST):c.6812A>T (p.Asp2271Val)
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
NM_000081.4(LYST):c.6836C>T (p.Ser2279Phe)
NM_000081.4(LYST):c.6841G>C (p.Gly2281Arg)
NM_000081.4(LYST):c.6845A>G (p.Tyr2282Cys)
NM_000081.4(LYST):c.6845A>T (p.Tyr2282Phe)
NM_000081.4(LYST):c.6847G>A (p.Glu2283Lys)
NM_000081.4(LYST):c.6848A>G (p.Glu2283Gly)
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
NM_000081.4(LYST):c.6857A>G (p.Tyr2286Cys)
NM_000081.4(LYST):c.685C>A (p.Pro229Thr)
NM_000081.4(LYST):c.6863G>A (p.Arg2288Gln)
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
NM_000081.4(LYST):c.6866C>T (p.Thr2289Ile)
NM_000081.4(LYST):c.686C>T (p.Pro229Leu)
NM_000081.4(LYST):c.6871A>C (p.Ser2291Arg)
NM_000081.4(LYST):c.6878A>G (p.His2293Arg)
NM_000081.4(LYST):c.6898T>G (p.Leu2300Val)
NM_000081.4(LYST):c.6904C>T (p.Pro2302Ser)
NM_000081.4(LYST):c.6905C>T (p.Pro2302Leu)
NM_000081.4(LYST):c.6952C>G (p.Leu2318Val)
NM_000081.4(LYST):c.6953T>G (p.Leu2318Arg)
NM_000081.4(LYST):c.695G>A (p.Gly232Glu)
NM_000081.4(LYST):c.695G>C (p.Gly232Ala)
NM_000081.4(LYST):c.6966G>T (p.Leu2322Phe)
NM_000081.4(LYST):c.6979A>G (p.Met2327Val)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.6986A>G (p.Lys2329Arg)
NM_000081.4(LYST):c.7003A>G (p.Thr2335Ala)
NM_000081.4(LYST):c.700A>G (p.Asn234Asp)
NM_000081.4(LYST):c.7018G>A (p.Val2340Ile)
NM_000081.4(LYST):c.7066G>C (p.Asp2356His)
NM_000081.4(LYST):c.7070C>G (p.Ala2357Gly) rs199576020
NM_000081.4(LYST):c.7078G>A (p.Ala2360Thr)
NM_000081.4(LYST):c.70G>T (p.Val24Phe)
NM_000081.4(LYST):c.7120C>T (p.Arg2374Cys)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7157A>G (p.His2386Arg)
NM_000081.4(LYST):c.7160G>A (p.Arg2387Gln)
NM_000081.4(LYST):c.716G>T (p.Ser239Ile)
NM_000081.4(LYST):c.7181A>G (p.Glu2394Gly)
NM_000081.4(LYST):c.7189A>G (p.Ile2397Val)
NM_000081.4(LYST):c.7192G>A (p.Glu2398Lys)
NM_000081.4(LYST):c.7194A>T (p.Glu2398Asp)
NM_000081.4(LYST):c.7197G>A (p.Met2399Ile)
NM_000081.4(LYST):c.7199T>C (p.Phe2400Ser)
NM_000081.4(LYST):c.71T>C (p.Val24Ala)
NM_000081.4(LYST):c.71T>G (p.Val24Gly)
NM_000081.4(LYST):c.7208G>A (p.Arg2403Gln)
NM_000081.4(LYST):c.7210C>T (p.His2404Tyr)
NM_000081.4(LYST):c.7217G>A (p.Gly2406Asp)
NM_000081.4(LYST):c.7223A>T (p.Asp2408Val)
NM_000081.4(LYST):c.7225G>A (p.Glu2409Lys)
NM_000081.4(LYST):c.7228G>A (p.Glu2410Lys)
NM_000081.4(LYST):c.7230-3T>G
NM_000081.4(LYST):c.7234G>T (p.Asp2412Tyr)
NM_000081.4(LYST):c.7253A>G (p.Asn2418Ser)
NM_000081.4(LYST):c.7258G>A (p.Gly2420Arg)
NM_000081.4(LYST):c.727G>A (p.Ala243Thr)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7322A>C (p.Asn2441Thr)
NM_000081.4(LYST):c.7350TCT[1] (p.Leu2452del)
NM_000081.4(LYST):c.736G>C (p.Val246Leu)
NM_000081.4(LYST):c.7370C>A (p.Ser2457Tyr)
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.4(LYST):c.7392G>C (p.Met2464Ile)
NM_000081.4(LYST):c.7392G>T (p.Met2464Ile)
NM_000081.4(LYST):c.7403A>C (p.Asn2468Thr)
NM_000081.4(LYST):c.740T>C (p.Ile247Thr)
NM_000081.4(LYST):c.740_742del (p.Ile247del)
NM_000081.4(LYST):c.7415A>G (p.Tyr2472Cys)
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.4(LYST):c.7447G>A (p.Gly2483Arg)
NM_000081.4(LYST):c.7453G>A (p.Glu2485Lys)
NM_000081.4(LYST):c.7454A>G (p.Glu2485Gly)
NM_000081.4(LYST):c.7457A>G (p.Lys2486Arg)
NM_000081.4(LYST):c.7489G>A (p.Ala2497Thr)
NM_000081.4(LYST):c.748A>G (p.Met250Val)
NM_000081.4(LYST):c.7494T>G (p.Cys2498Trp)
NM_000081.4(LYST):c.74A>G (p.Gln25Arg)
NM_000081.4(LYST):c.7504C>G (p.Gln2502Glu)
NM_000081.4(LYST):c.7515A>G (p.Ile2505Met)
NM_000081.4(LYST):c.7529A>G (p.His2510Arg)
NM_000081.4(LYST):c.7541C>T (p.Ser2514Phe)
NM_000081.4(LYST):c.754A>G (p.Asn252Asp)
NM_000081.4(LYST):c.7571A>G (p.Glu2524Gly)
NM_000081.4(LYST):c.7576C>T (p.Leu2526Phe)
NM_000081.4(LYST):c.7625A>G (p.Gln2542Arg)
NM_000081.4(LYST):c.7627+6A>G
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
NM_000081.4(LYST):c.7640C>T (p.Ala2547Val)
NM_000081.4(LYST):c.7661A>G (p.Gln2554Arg)
NM_000081.4(LYST):c.7678A>G (p.Ile2560Val)
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
NM_000081.4(LYST):c.7691C>T (p.Ala2564Val)
NM_000081.4(LYST):c.7697A>C (p.His2566Pro)
NM_000081.4(LYST):c.7697A>G (p.His2566Arg)
NM_000081.4(LYST):c.7701C>G (p.Asp2567Glu)
NM_000081.4(LYST):c.7714A>G (p.Thr2572Ala)
NM_000081.4(LYST):c.7739C>T (p.Ala2580Val)
NM_000081.4(LYST):c.7744C>T (p.His2582Tyr)
NM_000081.4(LYST):c.7751C>T (p.Ala2584Val)
NM_000081.4(LYST):c.7756G>C (p.Val2586Leu)
NM_000081.4(LYST):c.7766G>A (p.Arg2589Gln)
NM_000081.4(LYST):c.7771A>G (p.Ser2591Gly)
NM_000081.4(LYST):c.7772G>A (p.Ser2591Asn)
NM_000081.4(LYST):c.7774A>T (p.Ile2592Phe)
NM_000081.4(LYST):c.7780+3G>A
NM_000081.4(LYST):c.7784C>T (p.Pro2595Leu)
NM_000081.4(LYST):c.7787G>A (p.Arg2596Gln)
NM_000081.4(LYST):c.7792T>C (p.Phe2598Leu)
NM_000081.4(LYST):c.7798C>T (p.Leu2600Phe)
NM_000081.4(LYST):c.7805A>G (p.Gln2602Arg)
NM_000081.4(LYST):c.7814C>T (p.Ser2605Leu)
NM_000081.4(LYST):c.7831C>T (p.Arg2611Cys)
NM_000081.4(LYST):c.7832G>A (p.Arg2611His)
NM_000081.4(LYST):c.7834T>C (p.Ser2612Pro)
NM_000081.4(LYST):c.7840G>A (p.Ala2614Thr)
NM_000081.4(LYST):c.7843A>G (p.Asn2615Asp)
NM_000081.4(LYST):c.7846G>T (p.Asp2616Tyr)
NM_000081.4(LYST):c.7856A>G (p.His2619Arg)
NM_000081.4(LYST):c.7859T>C (p.Val2620Ala)
NM_000081.4(LYST):c.7865T>C (p.Met2622Thr)
NM_000081.4(LYST):c.7871G>A (p.Arg2624Gln)
NM_000081.4(LYST):c.7882C>G (p.Gln2628Glu)
NM_000081.4(LYST):c.790T>G (p.Leu264Val)
NM_000081.4(LYST):c.7910C>A (p.Thr2637Lys)
NM_000081.4(LYST):c.7910C>T (p.Thr2637Met)
NM_000081.4(LYST):c.7916T>A (p.Leu2639His)
NM_000081.4(LYST):c.7919C>T (p.Ala2640Val)
NM_000081.4(LYST):c.7922A>G (p.Gln2641Arg)
NM_000081.4(LYST):c.7931A>G (p.Gln2644Arg)
NM_000081.4(LYST):c.7946T>C (p.Leu2649Ser)
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
NM_000081.4(LYST):c.7973-7T>G
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
NM_000081.4(LYST):c.7975T>C (p.Phe2659Leu)
NM_000081.4(LYST):c.797A>G (p.Glu266Gly)
NM_000081.4(LYST):c.7991T>C (p.Ile2664Thr)
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
NM_000081.4(LYST):c.8003G>A (p.Arg2668Lys)
NM_000081.4(LYST):c.8014A>G (p.Asn2672Asp)
NM_000081.4(LYST):c.8032A>T (p.Thr2678Ser)
NM_000081.4(LYST):c.8036C>T (p.Ser2679Leu)
NM_000081.4(LYST):c.8047A>T (p.Thr2683Ser)
NM_000081.4(LYST):c.8050G>A (p.Glu2684Lys)
NM_000081.4(LYST):c.8059G>A (p.Glu2687Lys)
NM_000081.4(LYST):c.8065A>G (p.Asn2689Asp)
NM_000081.4(LYST):c.8069T>C (p.Ile2690Thr)
NM_000081.4(LYST):c.8072A>T (p.His2691Leu)
NM_000081.4(LYST):c.8077G>C (p.Glu2693Gln)
NM_000081.4(LYST):c.8093T>G (p.Phe2698Cys)
NM_000081.4(LYST):c.8113A>G (p.Ile2705Val)
NM_000081.4(LYST):c.8125C>G (p.Leu2709Val)
NM_000081.4(LYST):c.8141A>G (p.Lys2714Arg)
NM_000081.4(LYST):c.8146T>G (p.Ser2716Ala)
NM_000081.4(LYST):c.8161A>G (p.Lys2721Glu) rs762099794
NM_000081.4(LYST):c.8196T>G (p.Ile2732Met)
NM_000081.4(LYST):c.8216C>T (p.Thr2739Ile)
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.4(LYST):c.8224A>C (p.Met2742Leu)
NM_000081.4(LYST):c.8239C>G (p.Leu2747Val)
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.824T>G (p.Leu275Trp)
NM_000081.4(LYST):c.8251A>G (p.Ile2751Val)
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.4(LYST):c.826A>C (p.Asn276His)
NM_000081.4(LYST):c.8272G>A (p.Ala2758Thr)
NM_000081.4(LYST):c.829C>G (p.His277Asp)
NM_000081.4(LYST):c.8302G>T (p.Val2768Phe)
NM_000081.4(LYST):c.8305C>T (p.His2769Tyr)
NM_000081.4(LYST):c.8306A>G (p.His2769Arg)
NM_000081.4(LYST):c.8311C>A (p.Pro2771Thr)
NM_000081.4(LYST):c.8311C>T (p.Pro2771Ser)
NM_000081.4(LYST):c.8328A>G (p.Ile2776Met)
NM_000081.4(LYST):c.8336A>G (p.Asp2779Gly)
NM_000081.4(LYST):c.833A>G (p.Asn278Ser)
NM_000081.4(LYST):c.8351C>G (p.Ser2784Cys)
NM_000081.4(LYST):c.8357A>C (p.Gln2786Pro)
NM_000081.4(LYST):c.8358+5G>C
NM_000081.4(LYST):c.8385G>A (p.Leu2795=)
NM_000081.4(LYST):c.8390A>C (p.Glu2797Ala)
NM_000081.4(LYST):c.8390A>G (p.Glu2797Gly)
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.4(LYST):c.83A>G (p.Glu28Gly)
NM_000081.4(LYST):c.8401A>T (p.Asn2801Tyr)
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.4(LYST):c.8435G>T (p.Gly2812Val)
NM_000081.4(LYST):c.8438C>A (p.Thr2813Lys)
NM_000081.4(LYST):c.8438C>T (p.Thr2813Ile)
NM_000081.4(LYST):c.8456A>C (p.Asn2819Thr)
NM_000081.4(LYST):c.8458G>A (p.Ala2820Thr)
NM_000081.4(LYST):c.8471G>A (p.Cys2824Tyr)
NM_000081.4(LYST):c.8480A>G (p.Lys2827Arg)
NM_000081.4(LYST):c.8488C>A (p.Pro2830Thr)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8526G>A (p.Met2842Ile)
NM_000081.4(LYST):c.852T>A (p.Ser284Arg)
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.8549A>G (p.Tyr2850Cys)
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.4(LYST):c.8560G>C (p.Glu2854Gln)
NM_000081.4(LYST):c.8567T>C (p.Val2856Ala)
NM_000081.4(LYST):c.8571T>G (p.Asn2857Lys)
NM_000081.4(LYST):c.8572A>C (p.Lys2858Gln)
NM_000081.4(LYST):c.8578G>C (p.Ala2860Pro)
NM_000081.4(LYST):c.8593G>A (p.Val2865Ile)
NM_000081.4(LYST):c.8612+5G>T
NM_000081.4(LYST):c.8613-8T>A
NM_000081.4(LYST):c.8617T>C (p.Phe2873Leu)
NM_000081.4(LYST):c.8619T>A (p.Phe2873Leu)
NM_000081.4(LYST):c.8623C>T (p.Arg2875Cys)
NM_000081.4(LYST):c.8629G>A (p.Asp2877Asn)
NM_000081.4(LYST):c.8650T>A (p.Ser2884Thr)
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
NM_000081.4(LYST):c.8666A>G (p.Asp2889Gly)
NM_000081.4(LYST):c.8680G>A (p.Val2894Met)
NM_000081.4(LYST):c.8717T>C (p.Ile2906Thr)
NM_000081.4(LYST):c.8758A>T (p.Ser2920Cys)
NM_000081.4(LYST):c.8801G>C (p.Arg2934Thr)
NM_000081.4(LYST):c.8803G>A (p.Ala2935Thr)
NM_000081.4(LYST):c.8804C>A (p.Ala2935Glu)
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.4(LYST):c.8818C>T (p.Pro2940Ser) rs375839384
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
NM_000081.4(LYST):c.8830C>T (p.Pro2944Ser)
NM_000081.4(LYST):c.8833A>G (p.Thr2945Ala)
NM_000081.4(LYST):c.8864C>T (p.Pro2955Leu)
NM_000081.4(LYST):c.8872G>C (p.Glu2958Gln)
NM_000081.4(LYST):c.8877G>C (p.Arg2959Ser)
NM_000081.4(LYST):c.8877_8878delinsAG (p.Arg2960Gly)
NM_000081.4(LYST):c.8882G>A (p.Arg2961His)
NM_000081.4(LYST):c.8887C>A (p.Gln2963Lys)
NM_000081.4(LYST):c.889G>A (p.Gly297Arg)
NM_000081.4(LYST):c.8905A>G (p.Ile2969Val)
NM_000081.4(LYST):c.890G>A (p.Gly297Glu)
NM_000081.4(LYST):c.8912A>G (p.Asn2971Ser)
NM_000081.4(LYST):c.8933G>C (p.Arg2978Thr)
NM_000081.4(LYST):c.8940A>C (p.Lys2980Asn)
NM_000081.4(LYST):c.8947+6A>C
NM_000081.4(LYST):c.8949TGT[1] (p.Val2985del)
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.8992C>T (p.His2998Tyr)
NM_000081.4(LYST):c.8C>A (p.Thr3Asn)
NM_000081.4(LYST):c.9011C>G (p.Thr3004Ser)
NM_000081.4(LYST):c.901A>G (p.Ser301Gly)
NM_000081.4(LYST):c.9023A>G (p.Lys3008Arg)
NM_000081.4(LYST):c.9040A>G (p.Ile3014Val)
NM_000081.4(LYST):c.9042A>G (p.Ile3014Met)
NM_000081.4(LYST):c.9044+6T>C
NM_000081.4(LYST):c.904_905delinsAA (p.Leu302Lys)
NM_000081.4(LYST):c.9053G>A (p.Arg3018Gln)
NM_000081.4(LYST):c.9068T>G (p.Val3023Gly)
NM_000081.4(LYST):c.9084G>T (p.Glu3028Asp)
NM_000081.4(LYST):c.9109A>G (p.Lys3037Glu)
NM_000081.4(LYST):c.910G>A (p.Asp304Asn)
NM_000081.4(LYST):c.9118A>G (p.Met3040Val)
NM_000081.4(LYST):c.9138T>G (p.Asn3046Lys)
NM_000081.4(LYST):c.9162+3_9162+14del
NM_000081.4(LYST):c.9163A>T (p.Ser3055Cys)
NM_000081.4(LYST):c.9169C>A (p.Gln3057Lys)
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
NM_000081.4(LYST):c.9185C>A (p.Pro3062Gln)
NM_000081.4(LYST):c.9204A>G (p.Thr3068=)
NM_000081.4(LYST):c.9208GAA[1] (p.Glu3071del)
NM_000081.4(LYST):c.9232C>T (p.Arg3078Cys)
NM_000081.4(LYST):c.926G>A (p.Arg309Gln)
NM_000081.4(LYST):c.9315+3A>G
NM_000081.4(LYST):c.9319C>A (p.Arg3107Ser)
NM_000081.4(LYST):c.9320G>A (p.Arg3107His)
NM_000081.4(LYST):c.9320G>T (p.Arg3107Leu)
NM_000081.4(LYST):c.9328G>A (p.Val3110Ile)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
NM_000081.4(LYST):c.9347C>A (p.Thr3116Lys)
NM_000081.4(LYST):c.9347C>T (p.Thr3116Ile)
NM_000081.4(LYST):c.9350A>G (p.Asn3117Ser)
NM_000081.4(LYST):c.9361A>G (p.Asn3121Asp)
NM_000081.4(LYST):c.9377G>A (p.Gly3126Asp)
NM_000081.4(LYST):c.937G>A (p.Ala313Thr)
NM_000081.4(LYST):c.9400T>A (p.Leu3134Ile)
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
NM_000081.4(LYST):c.9413G>A (p.Gly3138Glu)
NM_000081.4(LYST):c.9415C>A (p.Gln3139Lys)
NM_000081.4(LYST):c.9454C>T (p.His3152Tyr)
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
NM_000081.4(LYST):c.9498C>G (p.Phe3166Leu)
NM_000081.4(LYST):c.9517T>C (p.Tyr3173His)
NM_000081.4(LYST):c.9529A>C (p.Thr3177Pro)
NM_000081.4(LYST):c.955C>G (p.Pro319Ala)
NM_000081.4(LYST):c.9560+3A>G
NM_000081.4(LYST):c.956C>T (p.Pro319Leu)
NM_000081.4(LYST):c.9590A>G (p.Tyr3197Cys)
NM_000081.4(LYST):c.9600AGA[1] (p.Glu3201del)
NM_000081.4(LYST):c.9614T>G (p.Val3205Gly)
NM_000081.4(LYST):c.9617A>G (p.Asp3206Gly)
NM_000081.4(LYST):c.961G>T (p.Ala321Ser)
NM_000081.4(LYST):c.9628-3del
NM_000081.4(LYST):c.9635A>C (p.Glu3212Ala)
NM_000081.4(LYST):c.9646C>T (p.Arg3216Cys)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000081.4(LYST):c.9650A>G (p.Lys3217Arg)
NM_000081.4(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_000081.4(LYST):c.9658A>G (p.Arg3220Gly)
NM_000081.4(LYST):c.9667G>A (p.Asp3223Asn)
NM_000081.4(LYST):c.9669C>G (p.Asp3223Glu)
NM_000081.4(LYST):c.9670C>G (p.Pro3224Ala)
NM_000081.4(LYST):c.9682G>A (p.Val3228Met)
NM_000081.4(LYST):c.9694C>T (p.His3232Tyr)
NM_000081.4(LYST):c.971A>G (p.Gln324Arg)
NM_000081.4(LYST):c.9721G>A (p.Gly3241Ser)
NM_000081.4(LYST):c.9731_9733del (p.Leu3244del)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9749T>C (p.Met3250Thr)
NM_000081.4(LYST):c.976A>G (p.Met326Val)
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
NM_000081.4(LYST):c.9784+5G>A
NM_000081.4(LYST):c.9802C>G (p.Pro3268Ala)
NM_000081.4(LYST):c.9806A>C (p.Asp3269Ala)
NM_000081.4(LYST):c.9811A>T (p.Thr3271Ser)
NM_000081.4(LYST):c.9812C>T (p.Thr3271Ile)
NM_000081.4(LYST):c.9821C>G (p.Ser3274Cys)
NM_000081.4(LYST):c.9823A>G (p.Thr3275Ala)
NM_000081.4(LYST):c.9826A>G (p.Asn3276Asp)
NM_000081.4(LYST):c.9835T>G (p.Trp3279Gly)
NM_000081.4(LYST):c.9839G>A (p.Arg3280Gln)
NM_000081.4(LYST):c.9853G>A (p.Glu3285Lys)
NM_000081.4(LYST):c.9868G>A (p.Val3290Met)
NM_000081.4(LYST):c.986G>A (p.Arg329Gln)
NM_000081.4(LYST):c.9896A>G (p.Tyr3299Cys)
NM_000081.4(LYST):c.989C>G (p.Thr330Arg)
NM_000081.4(LYST):c.98A>G (p.Glu33Gly)
NM_000081.4(LYST):c.9919C>T (p.Arg3307Cys)
NM_000081.4(LYST):c.9920G>A (p.Arg3307His)
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
NM_000081.4(LYST):c.9925+3A>G
NM_000081.4(LYST):c.9925+6G>A
NM_000081.4(LYST):c.9943C>T (p.Arg3315Cys)
NM_000081.4(LYST):c.9970G>A (p.Val3324Ile)
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
NM_000081.4(LYST):c.9976C>A (p.Leu3326Ile)
NM_000081.4(LYST):c.997C>A (p.His333Asn)
NM_000081.4(LYST):c.9991C>T (p.Arg3331Cys)
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.559+8C>G rs1602177756
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.633A>G (p.Arg211=) rs2147264887
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.687G>T (p.Gly229=)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.777+3_777+6del rs2147265717
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.814T>C (p.Ser272Pro) rs387906716
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala) rs1650787609
NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro) rs3917974
NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu) rs766845092
NM_000760.4(CSF3R):c.1071+1_1071+5dup rs770568094
NM_000760.4(CSF3R):c.1072-3C>T
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) rs751225562
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) rs1650741888
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser)
NM_000760.4(CSF3R):c.1140G>C (p.Gln380His)
NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg)
NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser) rs1650737288
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) rs1163985254
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr)
NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)
NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala)
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) rs746450541
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
NM_000760.4(CSF3R):c.1285+3A>G
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) rs1650719908
NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val)
NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser)
NM_000760.4(CSF3R):c.1307A>T (p.His436Leu) rs749559806
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) rs1260196968
NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu)
NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys) rs766441662
NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met)
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) rs139862991
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) rs2124111042
NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe)
NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln)
NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr)
NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala) rs538923210
NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser) rs538923210
NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile)
NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys) rs2124110365
NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg) rs879052375
NM_000760.4(CSF3R):c.1474+3G>A rs2124109417
NM_000760.4(CSF3R):c.1475-3C>A
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) rs2124107417
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn)
NM_000760.4(CSF3R):c.1569A>T (p.Gln523His)
NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile)
NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn) rs1196522809
NM_000760.4(CSF3R):c.160C>G (p.His54Asp) rs371768579
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu)
NM_000760.4(CSF3R):c.1646C>A (p.Pro549His) rs1650466012
NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg)
NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn)
NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser)
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) rs1198283969
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-6T>G rs1217235164
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser)
NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys)
NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala)
NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr)
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) rs1557587773
NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr)
NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_000760.4(CSF3R):c.1864+7G>T rs1375923168
NM_000760.4(CSF3R):c.1865-19G>A
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) rs1334552669
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val)
NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys)
NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs) rs1420932797
NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly) rs2124136821
NM_000760.4(CSF3R):c.2040+4A>G
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) rs370491074
NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg) rs375879178
NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp) rs375879178
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) rs2124096799
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) rs1296151274
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) rs1436771935
NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg) rs2124096083
NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys) rs2124136605
NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)
NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)
NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) rs1183274433
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) rs1207837094
NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr) rs927190839
NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)
NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)
NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_000760.4(CSF3R):c.2483A>G (p.His828Arg) rs1272584212
NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys) rs2124095140
NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn)
NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile)
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) rs1434762753
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) rs1463924000
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) rs750132507
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) rs1290014200
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) rs139022075
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe) rs2124129472
NM_000760.4(CSF3R):c.429G>T (p.Gln143His) rs766974881
NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys) rs2124129371
NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly)
NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr)
NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln)
NM_000760.4(CSF3R):c.485+6G>C
NM_000760.4(CSF3R):c.486-5G>A
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) rs1650924939
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
NM_000760.4(CSF3R):c.532G>A (p.Val178Met) rs186379741
NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln) rs1557595050
NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg)
NM_000760.4(CSF3R):c.555C>G (p.His185Gln)
NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly)
NM_000760.4(CSF3R):c.569G>A (p.Arg190His)
NM_000760.4(CSF3R):c.576C>A (p.His192Gln)
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala) rs2124152542
NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly)
NM_000760.4(CSF3R):c.64+3G>A
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) rs1650909656
NM_000760.4(CSF3R):c.665T>C (p.Met222Thr)
NM_000760.4(CSF3R):c.673+4G>A
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
NM_000760.4(CSF3R):c.693G>A (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.693G>T (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp)
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu)
NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg) rs1216927796
NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala)
NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly) rs2124124183
NM_000760.4(CSF3R):c.787A>C (p.Asn263His) rs2124124079
NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys)
NM_000760.4(CSF3R):c.800A>T (p.Glu267Val) rs758364103
NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys) rs2124123972
NM_000760.4(CSF3R):c.806G>A (p.Arg269His)
NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln) rs367774391
NM_000760.4(CSF3R):c.821G>A (p.Arg274His)
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) rs1489427982
NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) rs201991840
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) rs201991840
NM_000760.4(CSF3R):c.913C>G (p.Leu305Val)
NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys)
NM_000760.4(CSF3R):c.932G>A (p.Arg311His)
NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg)
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) rs1426986770
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser) rs1570588198
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) rs559114400
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe) rs938040106
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val) rs1943524404
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu) rs781797026
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr) rs1555190443
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
NM_001164277.2(SLC37A4):c.1124+17A>G
NM_001164277.2(SLC37A4):c.1124+4A>C
NM_001164277.2(SLC37A4):c.1124+5G>A rs2134627689
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
NM_001164277.2(SLC37A4):c.1125-15C>G
NM_001164277.2(SLC37A4):c.1125-3C>A
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp) rs781962569
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly) rs782470624
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile) rs782594411
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu) rs890913792
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala) rs2134626279
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3]) rs782663171
NM_001164277.2(SLC37A4):c.148+4A>G rs1943672237
NM_001164277.2(SLC37A4):c.148+6C>T rs1565691594
NM_001164277.2(SLC37A4):c.149-9T>C
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val) rs193302877
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp) rs2134644442
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu) rs1565690903
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val) rs1555191625
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg) rs1359256648
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu) rs1555191604
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro) rs948802122
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val) rs782429783
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser) rs1417623185
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) rs1280285676
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly) rs546577012
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro) rs1399227780
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser) rs1158229491
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser) rs1045954164
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg) rs1254956942
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
NM_001164277.2(SLC37A4):c.381+5G>A
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=) rs1315203966
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) rs752687782
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His) rs767772187
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met) rs2134638252
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg) rs369399624
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup) rs2134637839
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr) rs1432294427
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His) rs1943614259
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys) rs2134644210
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg) rs2134637316
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala) rs193302881
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu) rs1565689207
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile) rs764654621
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr) rs534894133
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His) rs1943676569
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
NM_001164277.2(SLC37A4):c.626+5G>A rs1943610138
NM_001164277.2(SLC37A4):c.626+6C>T rs762685017
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del) rs782141145
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg) rs782005026
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) rs1295327218
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr) rs1555191076
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp) rs1345697523
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val) rs2134634814
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu) rs1565688245
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala) rs782692832
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly) rs2134633732
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala) rs1350014866
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu) rs1943675245
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly) rs200147602
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln) rs1943560243
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro) rs782703235
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
NM_001972.4(ELANE):c.101G>T (p.Arg34Leu)
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly) rs1238175738
NM_001972.4(ELANE):c.117C>A (p.His39Gln)
NM_001972.4(ELANE):c.117C>G (p.His39Gln)
NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)
NM_001972.4(ELANE):c.12CCG[3] (p.Arg6dup) rs1172918693
NM_001972.4(ELANE):c.131_141del (p.Met44fs)
NM_001972.4(ELANE):c.133G>A (p.Val45Met)
NM_001972.4(ELANE):c.146T>C (p.Leu49Pro) rs2145144098
NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg) rs1320267189
NM_001972.4(ELANE):c.163T>C (p.Cys55Arg)
NM_001972.4(ELANE):c.163_165del (p.Cys55del) rs2035617167
NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) rs1555709360
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
NM_001972.4(ELANE):c.182C>A (p.Ala61Glu)
NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)
NM_001972.4(ELANE):c.189C>A (p.Asn63Lys) rs2145144214
NM_001972.4(ELANE):c.200C>T (p.Ser67Leu)
NM_001972.4(ELANE):c.205G>A (p.Ala69Thr)
NM_001972.4(ELANE):c.205del (p.Ala69fs)
NM_001972.4(ELANE):c.214G>C (p.Val72Leu)
NM_001972.4(ELANE):c.222_223insAC (p.Val75fs) rs2035618552
NM_001972.4(ELANE):c.224+4A>T
NM_001972.4(ELANE):c.225-10_232dup
NM_001972.4(ELANE):c.225-3C>T
NM_001972.4(ELANE):c.225-6C>A rs777599059
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys) rs746799175
NM_001972.4(ELANE):c.229G>A (p.Val77Ile)
NM_001972.4(ELANE):c.22G>C (p.Ala8Pro)
NM_001972.4(ELANE):c.233G>C (p.Arg78Pro) rs569608929
NM_001972.4(ELANE):c.233G>T (p.Arg78Leu)
NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) rs769123461
NM_001972.4(ELANE):c.239T>C (p.Val80Ala) rs2145144975
NM_001972.4(ELANE):c.23C>G (p.Ala8Gly) rs201961347
NM_001972.4(ELANE):c.242G>A (p.Arg81Gln)
NM_001972.4(ELANE):c.244G>A (p.Val82Met) rs2145144993
NM_001972.4(ELANE):c.247G>A (p.Val83Ile)
NM_001972.4(ELANE):c.255_266del (p.Ala86_Leu89del)
NM_001972.4(ELANE):c.256G>T (p.Ala86Ser) rs1599291445
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup) rs1468631555
NM_001972.4(ELANE):c.25T>C (p.Cys9Arg) rs2035607298
NM_001972.4(ELANE):c.264C>A (p.Asn88Lys) rs766647358
NM_001972.4(ELANE):c.269C>A (p.Ser90Ter)
NM_001972.4(ELANE):c.269C>T (p.Ser90Leu) rs890280050
NM_001972.4(ELANE):c.270_273dup (p.Arg92fs)
NM_001972.4(ELANE):c.271C>T (p.Arg91Trp)
NM_001972.4(ELANE):c.272G>C (p.Arg91Pro) rs1201600992
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) rs777652186
NM_001972.4(ELANE):c.295T>C (p.Phe99Leu)
NM_001972.4(ELANE):c.297C>G (p.Phe99Leu)
NM_001972.4(ELANE):c.298G>A (p.Ala100Thr) rs549887145
NM_001972.4(ELANE):c.298G>T (p.Ala100Ser)
NM_001972.4(ELANE):c.300dup (p.Val101fs) rs2145145158
NM_001972.4(ELANE):c.315C>G (p.Phe105Leu)
NM_001972.4(ELANE):c.317A>C (p.Glu106Ala)
NM_001972.4(ELANE):c.319A>G (p.Asn107Asp)
NM_001972.4(ELANE):c.322G>T (p.Gly108Cys)
NM_001972.4(ELANE):c.342G>T (p.Leu114Phe) rs1568304522
NM_001972.4(ELANE):c.349G>C (p.Asp117His)
NM_001972.4(ELANE):c.353T>A (p.Ile118Asn) rs1599291639
NM_001972.4(ELANE):c.355G>C (p.Val119Leu)
NM_001972.4(ELANE):c.367-1G>C rs1442062349
NM_001972.4(ELANE):c.367-3C>T
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) rs2145148405
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys) rs200595736
NM_001972.4(ELANE):c.380CCA[1] (p.Thr128del) rs1599293834
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) rs756726256
NM_001972.4(ELANE):c.391G>A (p.Ala131Thr)
NM_001972.4(ELANE):c.392C>T (p.Ala131Val) rs2035664443
NM_001972.4(ELANE):c.396C>A (p.Asn132Lys)
NM_001972.4(ELANE):c.39C>G (p.Ala13=) rs139637472
NM_001972.4(ELANE):c.401A>G (p.Gln134Arg)
NM_001972.4(ELANE):c.403G>A (p.Val135Met) rs774457980
NM_001972.4(ELANE):c.403G>T (p.Val135Leu)
NM_001972.4(ELANE):c.410_416del (p.Gln137fs)
NM_001972.4(ELANE):c.411G>C (p.Gln137His)
NM_001972.4(ELANE):c.41G>A (p.Cys14Tyr) rs1470888380
NM_001972.4(ELANE):c.437_457dup (p.Gly146_Leu152dup) rs2145148571
NM_001972.4(ELANE):c.443G>A (p.Gly148Glu) rs1309647401
NM_001972.4(ELANE):c.466T>A (p.Trp156Arg)
NM_001972.4(ELANE):c.467G>C (p.Trp156Ser) rs2035666353
NM_001972.4(ELANE):c.469G>A (p.Gly157Ser)
NM_001972.4(ELANE):c.472C>T (p.Leu158Phe) rs535990034
NM_001972.4(ELANE):c.482G>A (p.Arg161Lys)
NM_001972.4(ELANE):c.487C>A (p.Arg163Ser) rs759382746
NM_001972.4(ELANE):c.487C>T (p.Arg163Cys)
NM_001972.4(ELANE):c.488G>A (p.Arg163His)
NM_001972.4(ELANE):c.493A>G (p.Ile165Val) rs1599294094
NM_001972.4(ELANE):c.496G>A (p.Ala166Thr)
NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)
NM_001972.4(ELANE):c.513G>T (p.Glu171Asp)
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) rs797045007
NM_001972.4(ELANE):c.531G>A (p.Val177=)
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys) rs747053501
NM_001972.4(ELANE):c.533C>T (p.Thr178Met)
NM_001972.4(ELANE):c.542G>A (p.Cys181Tyr)
NM_001972.4(ELANE):c.550A>C (p.Ser184Arg) rs2035668478
NM_001972.4(ELANE):c.566dup (p.Val190fs)
NM_001972.4(ELANE):c.567C>G (p.Leu189=) rs751132983
NM_001972.4(ELANE):c.568G>C (p.Val190Leu)
NM_001972.4(ELANE):c.569T>G (p.Val190Gly) rs1322572531
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser) rs754277797
NM_001972.4(ELANE):c.581A>T (p.Gln194Leu)
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)
NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)
NM_001972.4(ELANE):c.589G>A (p.Val197Ile) rs1471191879
NM_001972.4(ELANE):c.597+3A>T rs2145149093
NM_001972.4(ELANE):c.597+4C>T
NM_001972.4(ELANE):c.597+5G>C
NM_001972.4(ELANE):c.597+5_597+8del rs2035670462
NM_001972.4(ELANE):c.597C>T (p.Phe199=)
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys) rs201139487
NM_001972.4(ELANE):c.619G>C (p.Val207Leu) rs2035674003
NM_001972.4(ELANE):c.619G>T (p.Val207Phe) rs2035674003
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe) rs1226645940
NM_001972.4(ELANE):c.634A>G (p.Ile212Val) rs2035674370
NM_001972.4(ELANE):c.639C>A (p.His213Gln)
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn) rs771710628
NM_001972.4(ELANE):c.644T>C (p.Ile215Thr)
NM_001972.4(ELANE):c.647C>T (p.Ala216Val) rs760080772
NM_001972.4(ELANE):c.64G>C (p.Gly22Arg) rs1477643766
NM_001972.4(ELANE):c.659G>C (p.Arg220Pro) rs137854445
NM_001972.4(ELANE):c.664G>A (p.Gly222Ser) rs2145149692
NM_001972.4(ELANE):c.664G>T (p.Gly222Cys) rs2145149692
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) rs1555710104
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg) rs780046041
NM_001972.4(ELANE):c.688G>C (p.Asp230His)
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp) rs2145143878
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) rs760263661
NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)
NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)
NM_001972.4(ELANE):c.73G>A (p.Ala25Thr)
NM_001972.4(ELANE):c.740A>T (p.Gln247Leu)
NM_001972.4(ELANE):c.744C>G (p.Arg248=) rs2035677633
NM_001972.4(ELANE):c.746C>G (p.Ser249Cys)
NM_001972.4(ELANE):c.74C>A (p.Ala25Glu) rs1396230082
NM_001972.4(ELANE):c.751G>T (p.Asp251Tyr)
NM_001972.4(ELANE):c.752A>C (p.Asp251Ala) rs2035677886
NM_001972.4(ELANE):c.760T>C (p.Cys254Arg) rs2145149914
NM_001972.4(ELANE):c.761G>A (p.Cys254Tyr)
NM_001972.4(ELANE):c.775G>C (p.Asp259His) rs1408272130
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)
NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)
NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)
NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)
NM_001972.4(ELANE):c.91G>A (p.Val31Met) rs2145143909
NM_001972.4(ELANE):c.98del (p.Gly33fs)
NM_003467.3(CXCR4):c.1000C>G (p.Arg334Gly) rs104893624
NM_003467.3(CXCR4):c.1001G>C (p.Arg334Pro)
NM_003467.3(CXCR4):c.1011T>G (p.His337Gln)
NM_003467.3(CXCR4):c.103A>G (p.Asn35Asp)
NM_003467.3(CXCR4):c.1042A>G (p.Ser348Gly) rs1573613407
NM_003467.3(CXCR4):c.109A>G (p.Asn37Asp)
NM_003467.3(CXCR4):c.10A>G (p.Ile4Val) rs2104922432
NM_003467.3(CXCR4):c.110A>G (p.Asn37Ser) rs749938835
NM_003467.3(CXCR4):c.116T>C (p.Ile39Thr)
NM_003467.3(CXCR4):c.132del (p.Tyr45fs) rs1684870931
NM_003467.3(CXCR4):c.184G>A (p.Val62Ile)
NM_003467.3(CXCR4):c.188T>C (p.Met63Thr)
NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) rs560844176
NM_003467.3(CXCR4):c.225del (p.Lys75fs)
NM_003467.3(CXCR4):c.235C>T (p.His79Tyr) rs2104918076
NM_003467.3(CXCR4):c.250G>A (p.Asp84Asn) rs368016542
NM_003467.3(CXCR4):c.256C>T (p.Leu86Phe)
NM_003467.3(CXCR4):c.278T>C (p.Phe93Ser)
NM_003467.3(CXCR4):c.282G>A (p.Trp94Ter) rs2104917984
NM_003467.3(CXCR4):c.295G>A (p.Val99Met)
NM_003467.3(CXCR4):c.305G>A (p.Trp102Ter)
NM_003467.3(CXCR4):c.338A>C (p.His113Pro) rs1684862940
NM_003467.3(CXCR4):c.394C>G (p.Leu132Val)
NM_003467.3(CXCR4):c.415G>A (p.Val139Ile)
NM_003467.3(CXCR4):c.437G>A (p.Arg146Lys)
NM_003467.3(CXCR4):c.458A>C (p.Glu153Ala) rs1553457905
NM_003467.3(CXCR4):c.473T>C (p.Val158Ala)
NM_003467.3(CXCR4):c.475G>A (p.Gly159Ser) rs910532454
NM_003467.3(CXCR4):c.518T>C (p.Ile173Thr)
NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly) rs2104916956
NM_003467.3(CXCR4):c.575A>G (p.Asn192Ser)
NM_003467.3(CXCR4):c.584G>A (p.Trp195Ter)
NM_003467.3(CXCR4):c.591del (p.Val198fs)
NM_003467.3(CXCR4):c.5A>G (p.Glu2Gly)
NM_003467.3(CXCR4):c.650C>A (p.Ser217Tyr) rs1406988415
NM_003467.3(CXCR4):c.653G>C (p.Cys218Ser)
NM_003467.3(CXCR4):c.661A>C (p.Ile221Leu) rs1684851586
NM_003467.3(CXCR4):c.695A>G (p.His232Arg)
NM_003467.3(CXCR4):c.70A>G (p.Met24Val)
NM_003467.3(CXCR4):c.752G>T (p.Cys251Phe) rs2104916053
NM_003467.3(CXCR4):c.804A>T (p.Glu268Asp) rs2104915971
NM_003467.3(CXCR4):c.814C>T (p.Gln272Ter) rs2104915939
NM_003467.3(CXCR4):c.831G>C (p.Glu277Asp) rs2104915918
NM_003467.3(CXCR4):c.865G>A (p.Ala289Thr)
NM_003467.3(CXCR4):c.871G>A (p.Ala291Thr) rs2104915846
NM_003467.3(CXCR4):c.884G>A (p.Cys295Tyr)
NM_003467.3(CXCR4):c.89G>A (p.Arg30His)
NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu) rs1684843543
NM_003467.3(CXCR4):c.964A>G (p.Arg322Gly)
NM_003467.3(CXCR4):c.967G>A (p.Gly323Arg)
NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly) rs1684840650
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser) rs753341973
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg) rs1744189442
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly) rs774128940
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu) rs2112401517
NM_003664.5(AP3B1):c.1167+1_1167+2dup rs2112401395
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser) rs759936403
NM_003664.5(AP3B1):c.1230+6T>C
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His) rs2112377230
NM_003664.5(AP3B1):c.1231-11A>G rs1743450274
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr) rs778910104
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
NM_003664.5(AP3B1):c.128+4A>G
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr) rs1289085829
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu) rs2112357067
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr) rs757746058
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=) rs1480759584
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg) rs1753134356
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala) rs2112326945
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His) rs1752591935
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala) rs6453373
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val) rs2112300913
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA rs1290648194
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly) rs769757592
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg) rs2112298805
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala) rs199908785
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile) rs1752538898
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu) rs755219130
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val) rs2112265534
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr) rs757825991
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly) rs2112265444
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu) rs2112260341
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu) rs777032367
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala) rs777032367
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val) rs777032367
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg) rs1365271615
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys) rs2112260253
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg) rs745461947
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly) rs2112252523
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr) rs62001050
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg) rs1334114879
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro) rs1747105618
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile) rs770603726
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr) rs1028498771
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val) rs1751097725
NM_003664.5(AP3B1):c.2471-16G>A rs760243722
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser) rs1580331287
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met) rs1398038084
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly) rs2112100501
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg) rs2112100469
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His) rs2112100439
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly) rs748322548
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr) rs2112100401
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile) rs1747942141
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser) rs868369063
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile) rs1747940185
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) rs866308304
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
NM_003664.5(AP3B1):c.279+19A>G rs756610617
NM_003664.5(AP3B1):c.280-4_280-3insG
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) rs2112091461
NM_003664.5(AP3B1):c.2894+6T>C
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys) rs1749672035
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) rs1580247322
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) rs745653147
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
NM_003664.5(AP3B1):c.2993-3C>T rs1746824105
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) rs781365567
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly) rs1746480237
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) rs764848036
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) rs2112054033
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) rs137901104
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro) rs2112607296
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn) rs1746477844
NM_003664.5(AP3B1):c.387A>T (p.Gln129His) rs1229682546
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr) rs1270734050
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup) rs759424724
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val) rs2112494710
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu) rs2112494693
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
NM_003664.5(AP3B1):c.570A>G (p.Glu190=) rs2112491939
NM_003664.5(AP3B1):c.603+16T>G rs2112491852
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu) rs762212366
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu) rs1302695682
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu) rs869312837
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala) rs1580498432
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr) rs753890496
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile) rs2112607227
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu) rs1260956613
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser) rs1044368703
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp) rs1744376789
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn) rs751922416
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val) rs1744372518
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu) rs1437339620
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
NM_003664.5(AP3B1):c.890A>T (p.His297Leu) rs1744369394
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr) rs2112414100
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser) rs1456578906
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile) rs1744194052
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu) rs2112405535
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser) rs2112405528
NM_005263.5(GFI1):c.100G>A (p.Ala34Thr)
NM_005263.5(GFI1):c.1012C>T (p.Arg338Trp)
NM_005263.5(GFI1):c.1015C>T (p.Pro339Ser)
NM_005263.5(GFI1):c.1065G>A (p.Met355Ile)
NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr) rs2101563362
NM_005263.5(GFI1):c.109C>G (p.Arg37Gly) rs2101582188
NM_005263.5(GFI1):c.1119C>A (p.Cys373Ter)
NM_005263.5(GFI1):c.1126G>A (p.Ala376Thr)
NM_005263.5(GFI1):c.1132A>G (p.Ser378Gly)
NM_005263.5(GFI1):c.113C>G (p.Ala38Gly)
NM_005263.5(GFI1):c.115+4C>G
NM_005263.5(GFI1):c.1162C>T (p.Arg388Cys)
NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile) rs1359056019
NM_005263.5(GFI1):c.1189G>A (p.Gly397Ser)
NM_005263.5(GFI1):c.1190G>T (p.Gly397Val)
NM_005263.5(GFI1):c.1244G>A (p.Arg415Gln)
NM_005263.5(GFI1):c.128A>T (p.Asn43Ile)
NM_005263.5(GFI1):c.149A>G (p.Glu50Gly)
NM_005263.5(GFI1):c.154C>T (p.Arg52Trp)
NM_005263.5(GFI1):c.155G>A (p.Arg52Gln)
NM_005263.5(GFI1):c.161G>A (p.Arg54His)
NM_005263.5(GFI1):c.167C>G (p.Ser56Cys)
NM_005263.5(GFI1):c.169C>T (p.Pro57Ser)
NM_005263.5(GFI1):c.170C>T (p.Pro57Leu)
NM_005263.5(GFI1):c.185C>T (p.Thr62Ile)
NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) rs1658344685
NM_005263.5(GFI1):c.201_221del (p.Arg67_Asp73del)
NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup) rs759646696
NM_005263.5(GFI1):c.208G>T (p.Ala70Ser) rs1400776565
NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del) rs2101580166
NM_005263.5(GFI1):c.219C>G (p.Asp73Glu) rs1658340230
NM_005263.5(GFI1):c.232A>G (p.Ser78Gly)
NM_005263.5(GFI1):c.241G>A (p.Glu81Lys)
NM_005263.5(GFI1):c.251C>A (p.Ser84Ter)
NM_005263.5(GFI1):c.258T>G (p.Phe86Leu)
NM_005263.5(GFI1):c.268T>C (p.Trp90Arg)
NM_005263.5(GFI1):c.274C>T (p.Pro92Ser)
NM_005263.5(GFI1):c.278C>G (p.Pro93Arg)
NM_005263.5(GFI1):c.299-17C>G
NM_005263.5(GFI1):c.299-4A>T
NM_005263.5(GFI1):c.299-5del
NM_005263.5(GFI1):c.302C>T (p.Ser101Leu)
NM_005263.5(GFI1):c.322T>C (p.Ser108Pro) rs2101573712
NM_005263.5(GFI1):c.347C>G (p.Pro116Arg) rs2101573617
NM_005263.5(GFI1):c.376G>T (p.Gly126Cys) rs766732454
NM_005263.5(GFI1):c.383C>G (p.Ala128Gly)
NM_005263.5(GFI1):c.398G>C (p.Arg133Pro)
NM_005263.5(GFI1):c.398G>T (p.Arg133Leu)
NM_005263.5(GFI1):c.410A>G (p.Gln137Arg)
NM_005263.5(GFI1):c.427G>A (p.Gly143Arg) rs1245223850
NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) rs1367385969
NM_005263.5(GFI1):c.457C>A (p.Leu153Ile)
NM_005263.5(GFI1):c.461dup (p.Cys155fs) rs1658216855
NM_005263.5(GFI1):c.46C>G (p.His16Asp) rs772644896
NM_005263.5(GFI1):c.478G>A (p.Glu160Lys) rs2101572785
NM_005263.5(GFI1):c.481C>T (p.Pro161Ser)
NM_005263.5(GFI1):c.491C>T (p.Pro164Leu)
NM_005263.5(GFI1):c.508C>T (p.Pro170Ser)
NM_005263.5(GFI1):c.514C>G (p.Arg172Gly) rs1571216920
NM_005263.5(GFI1):c.521C>T (p.Ala174Val)
NM_005263.5(GFI1):c.533G>C (p.Gly178Ala) rs1329086426
NM_005263.5(GFI1):c.534G>T (p.Gly178=) rs1658207859
NM_005263.5(GFI1):c.539G>A (p.Gly180Glu)
NM_005263.5(GFI1):c.542C>A (p.Ala181Glu)
NM_005263.5(GFI1):c.548G>T (p.Gly183Val)
NM_005263.5(GFI1):c.559G>T (p.Ala187Ser)
NM_005263.5(GFI1):c.577G>T (p.Ala193Ser) rs765205557
NM_005263.5(GFI1):c.607T>C (p.Phe203Leu)
NM_005263.5(GFI1):c.617C>A (p.Ala206Glu)
NM_005263.5(GFI1):c.636G>T (p.Glu212Asp)
NM_005263.5(GFI1):c.643A>G (p.Thr215Ala)
NM_005263.5(GFI1):c.644C>T (p.Thr215Met)
NM_005263.5(GFI1):c.65G>A (p.Gly22Glu)
NM_005263.5(GFI1):c.660G>T (p.Leu220Phe)
NM_005263.5(GFI1):c.679C>G (p.His227Asp)
NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) rs779127899
NM_005263.5(GFI1):c.691G>T (p.Ala231Ser) rs1268992636
NM_005263.5(GFI1):c.701G>A (p.Gly234Asp)
NM_005263.5(GFI1):c.709G>T (p.Val237Phe) rs906575632
NM_005263.5(GFI1):c.710T>C (p.Val237Ala)
NM_005263.5(GFI1):c.731T>A (p.Leu244Gln)
NM_005263.5(GFI1):c.733T>G (p.Cys245Gly) rs775151292
NM_005263.5(GFI1):c.749T>C (p.Leu250Pro)
NM_005263.5(GFI1):c.752G>C (p.Gly251Ala)
NM_005263.5(GFI1):c.755G>T (p.Gly252Val)
NM_005263.5(GFI1):c.776A>G (p.Lys259Arg)
NM_005263.5(GFI1):c.783C>G (p.Ser261Arg)
NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) rs1658175649
NM_005263.5(GFI1):c.797C>T (p.Thr266Met) rs1658175470
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe) rs1658376438
NM_005263.5(GFI1):c.800C>T (p.Pro267Leu)
NM_005263.5(GFI1):c.82C>G (p.Arg28Gly)
NM_005263.5(GFI1):c.835A>G (p.Ser279Gly) rs1404247690
NM_005263.5(GFI1):c.837C>G (p.Ser279Arg) rs1658171658
NM_005263.5(GFI1):c.854C>T (p.Ala285Val) rs767464450
NM_005263.5(GFI1):c.863T>C (p.Met288Thr)
NM_005263.5(GFI1):c.869G>A (p.Gly290Asp)
NM_005263.5(GFI1):c.86T>A (p.Leu29Ter)
NM_005263.5(GFI1):c.923A>T (p.Gln308Leu) rs1658165455
NM_005263.5(GFI1):c.924+6C>A
NM_005263.5(GFI1):c.924+6C>T
NM_005263.5(GFI1):c.928C>T (p.Arg310Trp)
NM_005263.5(GFI1):c.929G>A (p.Arg310Gln)
NM_005263.5(GFI1):c.943A>G (p.Lys315Glu) rs1432200639
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala) rs1220347048
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.135_137del (p.Arg46del) rs746771318
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser) rs1260994720
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser) rs146452018
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp) rs1684865731
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del) rs1558251515
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-9T>A rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys) rs1684875501
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln) rs147036748
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg) rs1001874105
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser) rs1684878785
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu) rs1310502848
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys) rs1392118289
NM_006118.4(HAX1):c.521C>A (p.Pro174His) rs1257711613
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg) rs1257711613
NM_006118.4(HAX1):c.54-9del rs2149139460
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln) rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis) rs2149139500
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr) rs753448581
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.781C>G (p.Leu261Val) rs2149140834
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe) rs1684917433
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666
NM_006118.4(HAX1):c.93_95del (p.Glu31del) rs773579418
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del) rs560912060
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) rs188130682
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys) rs1656350811
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln) rs1656350811
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
NM_007259.5(VPS45):c.123A>G (p.Gln41=) rs1654857826
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) rs201002467
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) rs1571849671
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
NM_007259.5(VPS45):c.1412A>G (p.His471Arg) rs782441436
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys) rs1656459616
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) rs1553802469
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg) rs1553802482
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) rs1656465946
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) rs1571879434
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) rs2101608934
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) rs1191051819
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) rs2101609044
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro) rs142968690
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln)
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro)
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly) rs1278390607
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) rs782358688
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) rs1654862605
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
NM_007259.5(VPS45):c.187A>G (p.Met63Val) rs1553796360
NM_007259.5(VPS45):c.189G>T (p.Met63Ile)
NM_007259.5(VPS45):c.194A>G (p.His65Arg)
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) rs1374559604
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg) rs781906938
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
NM_007259.5(VPS45):c.304A>G (p.Ile102Val)
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn) rs947757508
NM_007259.5(VPS45):c.319G>C (p.Val107Leu) rs782553177
NM_007259.5(VPS45):c.320T>A (p.Val107Glu)
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) rs2101515689
NM_007259.5(VPS45):c.370-16G>A
NM_007259.5(VPS45):c.404A>G (p.His135Arg) rs781981353
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) rs782339252
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe)
NM_007259.5(VPS45):c.429T>A (p.Gly143=)
NM_007259.5(VPS45):c.439-6A>G rs1272899698
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter) rs1655433446
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) rs998654797
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro) rs142225617
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
NM_007259.5(VPS45):c.576+4T>C rs1553798326
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
NM_007259.5(VPS45):c.658G>C (p.Asp220His) rs1175122293
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
NM_007259.5(VPS45):c.687+5A>G
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys) rs1655694540
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) rs782700993
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile) rs782367453
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe) rs2101534236
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) rs2101534429
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) rs782583704
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser)
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg) rs2133626664
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe) rs2133626671
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp)
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn) rs1554824983
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu)
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg) rs1821583064
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His)
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met) rs1215307853
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu) rs569985954
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr) rs2125061122
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr) rs2082573376
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs) rs1232664557
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser) rs1433604133
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly) rs866176976
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn) rs2082574453
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.392G>A (p.Arg131His) rs542419840
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr) rs1444848644
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp) rs1575466167
NM_032492.4(JAGN1):c.420del (p.Phe140fs)
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly) rs943577194
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr) rs1177521463
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys) rs372426169
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg) rs2082575975
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys) rs1043365547
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs) rs2082557086
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)
NM_032492.4(JAGN1):c.77A>T (p.His26Leu) rs1559259122
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
NM_138387.4(G6PC3):c.1002G>T (p.Met334Ile)
NM_138387.4(G6PC3):c.1007G>C (p.Ser336Thr)
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter) rs889605875
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) rs2144135194
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) rs1157699874
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) rs1417784733
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) rs752966267
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) rs2144135656
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro) rs2144145534
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu) rs2144145566
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) rs2050044130
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys) rs2050045175
NM_138387.4(G6PC3):c.376A>G (p.Met126Val) rs1597908497
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile)
NM_138387.4(G6PC3):c.568G>A (p.Val190Met) rs2050072075
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) rs2144134978
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys) rs748442084
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) rs2144155135
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) rs1597911422
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg) rs2050088788
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) rs1198102696
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg) rs1158728815
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) rs960279172
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg) rs2050092912
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp) rs1335171821
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) rs2144135089
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr) rs2050096005
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) rs776556492
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) rs2144156840
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) rs2144156932
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu) rs1212393526
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) rs1448628053
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr) rs1816114703
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu)
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala) rs2130902601
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser)
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys) rs1563509434
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His) rs2132515981
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His)
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn)
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg)
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln) rs1309702539
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val)
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg)
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser)
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser) rs1816400653
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg) rs368041601
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp)
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp)
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly)
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe) rs746258724
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys)
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly)
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu) rs138271331
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly) rs2130917061
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu)
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe) rs1816407178
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu)
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln) rs747699484
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val)
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe) rs1260587896
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr) rs1343470928
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr)
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly) rs2130917390
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu)
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His) rs1816414341
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg)
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys) rs2130917547
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser)
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr)
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn)
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu) rs781420614
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro) rs2130917686
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln)
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala) rs1816420784
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val) rs755371144
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe) rs2130917896
NM_152564.5(VPS13B):c.10578C>G (p.Asn3526Lys) rs148265212
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg) rs1816423653
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp) rs1588786822
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu)
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu) rs1274673849
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu)
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys) rs1816426749
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu)
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln) rs372367817
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr)
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala) rs2130918209
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr)
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu)
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp) rs2130918326
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr) rs779069069
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro)
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His)
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg)
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val)
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe) rs551114360
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu)
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile)
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu) rs1433110217
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser)
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly)
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His)
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn)
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His) rs749019850
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr)
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser)
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys)
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp)
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser)
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala)
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln)
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala)
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile) rs1816712060
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly)
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del)
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala) rs2132516334
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys)
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe) rs774678400
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala)
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp) rs1420283003
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu) rs370507425
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu) rs151089043
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala)
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe)
NM_152564.5(VPS13B):c.11044+5C>G
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala)
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr) rs1464523452
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser) rs1588797596
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile)
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn) rs1476526587
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln) rs750753561
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu) rs750753561
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys) rs780240040
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys)
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del) rs781133717
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser)
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg) rs1816856108
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=) rs1175793742
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro) rs1816857688
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp)
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg)
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys) rs2130942219
NM_152564.5(VPS13B):c.11216-3C>G
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val)
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr) rs2130962900
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu)
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile) rs2130962939
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg) rs2130962947
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile)
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu) rs797046093
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr)
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val) rs767840130
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys) rs2132125588
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg)
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser)
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala)
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu)
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu)
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile) rs779652081
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala)
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala) rs1817212364
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg) rs768255145
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu)
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr)
NM_152564.5(VPS13B):c.11392+5G>C
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser)
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr)
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr)
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His) rs2132516543
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn)
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln) rs2130972661
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala) rs1563519728
NM_152564.5(VPS13B):c.11496-3C>A
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr) rs1817411525
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu) rs752395430
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile) rs943648620
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn) rs558917637
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe) rs1817413381
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys) rs910829293
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln) rs910829293
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del)
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer)
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val) rs1170794758
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu) rs1057517385
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val) rs2130975573
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met) rs574447837
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu) rs2130975617
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu) rs147315245
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu)
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu)
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala)
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile) rs1817419149
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr) rs778142738
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr) rs2132516597
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr) rs2130975882
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His) rs779149986
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu)
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del) rs1462286408
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro)
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met) rs144797111
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg) rs1484708441
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg) rs750156428
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys)
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
NM_152564.5(VPS13B):c.11746-10_11746-3dup
NM_152564.5(VPS13B):c.11746-3T>C
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val) rs754404502
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu) rs2130990090
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile) rs2130990099
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro) rs147907236
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His) rs1817654141
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys)
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met) rs2130990241
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu)
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys)
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del) rs1236948038
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr)
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His) rs1010334738
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn) rs1209045692
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val) rs1227148786
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His)
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg)
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly)
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr)
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser) rs2130990501
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met)
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val) rs2130990524
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala) rs762256695
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser)
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu) rs765761643
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His) rs531619892
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs)
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser)
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro) rs2130990713
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr) rs2130990784
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser) rs2130990784
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter) rs2130990800
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His) rs1012733827
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe)
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg)
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn) rs1370500777
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu)
NM_152564.5(VPS13B):c.11956del (p.Met3986fs)
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu) rs760214378
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn)
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs)
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs)
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg)
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala)
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=) rs764705493
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys)
NM_152564.5(VPS13B):c.1207-10T>A rs1293563176
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln)
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His) rs1269344604
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn) rs1809977101
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu)
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln)
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala)
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala) rs1809982356
NM_152564.5(VPS13B):c.1302+6C>G
NM_152564.5(VPS13B):c.1303-3T>C rs1464515241
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val)
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr)
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys) rs1320106244
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser) rs1563560482
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val)
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe) rs1563560499
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn) rs761491720
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr)
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu)
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu) rs2132555298
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser) rs1810007051
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser)
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile) rs765774825
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu)
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr)
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp) rs761218548
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala) rs761218548
NM_152564.5(VPS13B):c.148-17A>G rs2132221851
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys)
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr)
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser) rs139141291
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly) rs139141291
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser) rs2132559245
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr) rs1810086193
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg) rs1810086193
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser) rs1193369148
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu) rs1253965070
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys)
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser) rs142971568
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
NM_152564.5(VPS13B):c.1651+3A>G
NM_152564.5(VPS13B):c.1651+5del rs779435450
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys) rs1346704740
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro) rs2132580980
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu) rs1554639027
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del)
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly)
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser) rs2132581141
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile)
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly) rs2132581169
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr) rs2132581178
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp)
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser) rs2132221998
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe) rs2132222005
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu) rs182397346
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu)
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr) rs1588083628
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala) rs2132581468
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu) rs2132581494
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe)
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr) rs1810522684
NM_152564.5(VPS13B):c.1844-6T>G
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu) rs1810824609
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu)
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met) rs1432601796
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met) rs2132222016
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg)
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr) rs1027919525
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu)
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val)
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val) rs2132596795
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln) rs772958839
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His)
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr) rs960819243
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val) rs886062537
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu)
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr) rs2132597122
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu)
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile)
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg) rs2132597258
NM_152564.5(VPS13B):c.2013+4T>C
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=)
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly)
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp) rs2132624177
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser) rs751669595
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala) rs755151137
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg) rs372585253
NM_152564.5(VPS13B):c.2074C>A (p.Arg692=)
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr)
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del) rs765610228
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met) rs763463283
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu) rs1563573152
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn) rs376694328
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val) rs2132624430
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu)
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln) rs1811381345
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg)
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly) rs2132624568
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro)
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn)
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe) rs757030166
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu) rs146450992
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile) rs1202638841
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser) rs1812241248
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu)
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile)
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys)
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala)
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala) rs1812242519
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln)
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg) rs2132663512
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala) rs779218452
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr) rs954707371
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr) rs900452617
NM_152564.5(VPS13B):c.2333+3A>G
NM_152564.5(VPS13B):c.2334-3C>G rs749105779
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile)
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln) rs1359263734
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu) rs1359263734
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu)
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala) rs1587947443
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr) rs754548698
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr) rs781012935
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys)
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly)
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg)
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu) rs370570714
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val) rs370570714
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys)
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla) rs1813688418
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe) rs2132728416
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val)
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser) rs1286492322
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly) rs886841517
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met) rs765314153
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val)
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp) rs1842839907
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr)
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg)
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met) rs141694201
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.2531A>G (p.Asn844Ser) rs2132994774
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val) rs934545731
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala) rs745738175
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile) rs1818769668
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu) rs147682334
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala) rs1588198594
NM_152564.5(VPS13B):c.256A>G (p.Met86Val)
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly) rs2132994953
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr)
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe) rs376044341
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val)
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr) rs2132995145
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu) rs1192025517
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=)
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr) rs373346647
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala) rs373346647
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu) rs1818826321
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly)
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser) rs1818828701
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr) rs751622263
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile)
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr)
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg) rs1563641612
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His) rs1679704470
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly) rs1818832537
NM_152564.5(VPS13B):c.2824+4A>G
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys) rs370336663
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp)
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn) rs749988222
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val) rs758076178
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) rs770406179
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser) rs771483197
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr)
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr)
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly) rs761581467
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del) rs748137454
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg)
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu)
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile)
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn) rs1813997088
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr) rs1439673220
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp)
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile) rs1814450578
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr)
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys)
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu) rs758840412
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly) rs892148263
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn)
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser) rs2133312661
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His)
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met) rs1563704394
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu)
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr) rs1297164249
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg) rs1297164249
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg)
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu) rs1814454254
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr)
NM_152564.5(VPS13B):c.3061G>C (p.Val1021Leu)
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser) rs1814455883
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu)
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
NM_152564.5(VPS13B):c.3082+11A>G
NM_152564.5(VPS13B):c.3082+5G>A
NM_152564.5(VPS13B):c.3083-5C>G
NM_152564.5(VPS13B):c.3083-6A>C
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser)
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val)
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met) rs746830200
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys)
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr)
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu)
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro) rs1563727071
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His) rs1411916211
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys) rs1370204743
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile)
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg) rs1348314962
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala) rs2132431469
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr)
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His) rs765577339
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp)
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu) rs1196083061
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg)
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala) rs752514763
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu)
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg) rs747406522
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn) rs1474402474
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn) rs1846417432
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile)
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro) rs1817725649
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe) rs1817726307
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn) rs1184653913
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg)
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr) rs1817727523
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn) rs1563732631
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) rs199902569
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr)
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly)
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp)
NM_152564.5(VPS13B):c.3445+3A>T rs775461539
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys) rs1563746308
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met)
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His)
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly) rs771030813
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr) rs1819171069
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu) rs764040349
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg)
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser) rs995313030
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser) rs2133511087
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro) rs1160968830
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg) rs1160968830
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val) rs2133511258
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln)
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn)
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe)
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu) rs757707584
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg)
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln)
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr) rs2133556147
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr)
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val)
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr)
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser)
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys)
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro) rs184693266
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser) rs184693266
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile) rs1820047097
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser) rs527263178
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn)
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys) rs1820049229
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg) rs2132431749
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr)
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr)
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro) rs1820050200
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile) rs1441125749
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser) rs966120122
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg) rs1821241143
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn)
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val)
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met) rs957432577
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg)
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg) rs1821244952
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu)
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys)
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys)
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg)
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=)
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile) rs1821315903
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys) rs2133613311
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn)
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val)
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val) rs1230385293
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile) rs2133613470
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser)
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His)
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile)
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly)
NM_152564.5(VPS13B):c.4224+620_4224+622del
NM_152564.5(VPS13B):c.4224+664A>G rs1821583064
NM_152564.5(VPS13B):c.4224+713G>T
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro)
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly)
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly) rs2132453819
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg) rs1189900037
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg)
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr)
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu) rs371961155
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His) rs2133637231
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup) rs1297058561
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu) rs750810791
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val) rs2133637370
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr)
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp)
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del)
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser)
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg)
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu) rs1588450228
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln)
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val) rs1821776603
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser)
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala) rs1374233787
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg)
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu)
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys) rs1178400279
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile) rs772244398
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr)
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg) rs1821780332
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys)
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His)
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser) rs1821781864
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu) rs1198827619
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val) rs2133638135
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala)
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly)
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp)
NM_152564.5(VPS13B):c.4633+4T>C rs1384867213
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly) rs1319725217
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg) rs2133668123
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly)
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe) rs1822352324
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro)
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala) rs1822354960
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile)
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met)
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser) rs1824571515
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His) rs1824571709
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu) rs1241114776
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val) rs1824575477
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala)
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr) rs1824576911
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met)
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys)
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly)
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile) rs1014154776
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg)
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg) rs776600965
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala)
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile)
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile) rs2133764957
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala)
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys) rs1824583703
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=) rs985853073
NM_152564.5(VPS13B):c.4949+3A>T rs1824584392
NM_152564.5(VPS13B):c.4949+6_4949+19del
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp)
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys) rs903367949
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del) rs770497996
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr)
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu)
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val)
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile)
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile)
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe) rs376498106
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys)
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met)
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly) rs1588510428
NM_152564.5(VPS13B):c.5076+3T>C rs2133808668
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr) rs765021203
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser) rs1825833646
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro) rs2133812014
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn)
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg)
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val)
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val) rs1825837144
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu)
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro) rs1825837477
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg)
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro) rs572817378
NM_152564.5(VPS13B):c.5220+3_5220+5del
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe)
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys)
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln)
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly)
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn) rs1481251396
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala) rs1426875703
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val)
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val)
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys) rs780314338
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe) rs547179338
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val) rs2133931572
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly) rs905918713
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu) rs2133931614
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val)
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys)
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile)
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val) rs1829389144
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu)
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu) rs2133931748
NM_152564.5(VPS13B):c.5463C>G (p.Ile1821Met)
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr) rs2133931825
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly) rs1829392467
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val)
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser)
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr) rs746642412
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn) rs886062542
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys)
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr)
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met) rs1829397607
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp)
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His) rs2133932090
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro) rs2133932090
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly) rs1829398507
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser)
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg) rs1829399240
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp) rs1829399240
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu)
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu)
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val) rs2133932160
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe) rs1588579775
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg) rs1329528398
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr) rs1829402250
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly)
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val) rs1829403087
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr) rs1829403156
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe) rs2133932316
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp)
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln)
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala) rs1829404418
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys) rs2133932374
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro) rs1829404779
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala) rs1829406082
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr)
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val) rs751559027
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro) rs2133932465
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln)
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu)
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala)
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile) rs770738729
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala) rs149408318
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala)
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser)
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile)
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg) rs766541661
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp) rs1830218052
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly) rs2129763705
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg)
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn)
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn)
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val)
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser) rs939700991
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln)
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro)
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn) rs1341696957
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys) rs1211147648
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys)
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly) rs1157627196
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile) rs2130179163
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr) rs1310217789
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro) rs1310217789
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys) rs2132125423
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met)
NM_152564.5(VPS13B):c.610A>C (p.Asn204His) rs2132481643
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp) rs2132481643
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys) rs2130179604
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn) rs1832185851
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr)
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val) rs1832186518
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr)
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser)
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg) rs762539148
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg)
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr)
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr)
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp) rs754400139
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser)
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr)
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe)
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu) rs1847342750
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu) rs2130180328
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His)
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp) rs1832190256
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His) rs747116389
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu) rs747116389
NM_152564.5(VPS13B):c.623G>A (p.Cys208Tyr) rs1209535812
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu) rs1184896116
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg)
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu) rs398124336
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala) rs1832191327
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg) rs758902485
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly) rs767165760
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr)
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly)
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His) rs780082543
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val)
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly) rs2130181316
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg) rs762559001
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser)
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu) rs2130181520
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr)
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser) rs2130181723
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val)
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn)
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn) rs1367000031
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly)
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg)
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile) rs543464415
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser) rs756143690
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu) rs147099791
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val) rs1179122669
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg)
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu)
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser) rs778567402
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val)
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser) rs1399212150
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met) rs1299494623
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys) rs763341700
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg) rs1319011435
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala) rs1832965733
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln) rs1026588488
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp)
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe)
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg) rs776873589
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu) rs1833089427
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del) rs1833089374
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro) rs1180682567
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser)
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile)
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln)
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu) rs1833091984
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg) rs200713917
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly)
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr)
NM_152564.5(VPS13B):c.6866-14C>G rs1277958075
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser)
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu) rs1833104493
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys) rs1833105159
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn) rs1833105526
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=)
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser)
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala) rs1833106696
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val) rs2130343510
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile)
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala)
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile)
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu)
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn) rs2130343782
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val)
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val) rs1563881705
NM_152564.5(VPS13B):c.7050+5G>A rs1302816737
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala) rs1847346139
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg)
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met)
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys)
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys)
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe) rs1373068816
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val)
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del) rs2130621539
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn) rs1347208371
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe) rs370689956
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His) rs915120404
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His)
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu)
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile)
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly)
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala)
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile)
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg) rs2130621965
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly) rs780093448
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg)
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe)
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly) rs1811762443
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe)
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg)
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala) rs2130667997
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser) rs1811763232
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly)
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr) rs373779146
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys)
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile)
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala) rs1811766657
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys) rs773594659
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg)
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg)
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp) rs2130668636
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala) rs2130668658
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys) rs2130668663
NM_152564.5(VPS13B):c.7429+3A>G rs1811769162
NM_152564.5(VPS13B):c.7429+6C>T rs1563912462
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val) rs761890013
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn) rs2132482090
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu) rs1811864935
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile) rs1438199361
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr) rs1251254222
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg) rs1588704212
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val) rs1841449266
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys) rs2130678538
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr)
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys) rs1434963421
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp) rs1811867927
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys) rs2130678778
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile) rs946554822
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg)
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg)
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu)
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val)
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp) rs979347048
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala) rs751188155
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly)
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg) rs1290655527
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile)
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu)
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg)
NM_152564.5(VPS13B):c.762+20_762+21delinsAA
NM_152564.5(VPS13B):c.762+4G>A rs2132482160
NM_152564.5(VPS13B):c.762+5G>T rs1847351205
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del) rs1811870870
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala) rs2130679096
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu)
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu)
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr)
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val) rs2130679255
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn) rs1205859728
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly) rs2130679527
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala)
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr) rs1811877032
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala) rs1434588029
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln) rs147593451
NM_152564.5(VPS13B):c.7779+5G>T rs1454252779
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=) rs796478997
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His)
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser)
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys)
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile) rs1812159282
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp)
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr) rs886062544
NM_152564.5(VPS13B):c.7941+6T>C
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=)
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val) rs1588732028
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly)
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr) rs1813583407
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys) rs2130785652
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg) rs1433870539
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His)
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His)
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr) rs2130785937
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met)
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe)
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu)
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro) rs1588732177
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe) rs984666923
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser)
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg) rs2130810579
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met)
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg)
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His)
NM_152564.5(VPS13B):c.817A>G (p.Met273Val)
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys) rs1847625470
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg)
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly) rs1563488856
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val)
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala) rs750066675
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val)
NM_152564.5(VPS13B):c.8300A>C (p.Glu2767Ala)
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu)
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe) rs2130811098
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg)
NM_152564.5(VPS13B):c.8361+3T>C
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu)
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser) rs1814171272
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe)
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr)
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr)
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala) rs1814173866
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu) rs1814175380
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val) rs989835229
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg) rs1427709841
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val) rs373961820
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met) rs1362379578
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis)
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu)
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg)
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln) rs1814195672
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser)
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val)
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu)
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val) rs1814199572
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe)
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val) rs1448710192
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys) rs2130814214
NM_152564.5(VPS13B):c.8621+4C>G rs1563489649
NM_152564.5(VPS13B):c.8621+6A>G
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=) rs1814236267
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys)
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly) rs1563490033
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val) rs1563490033
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu)
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val) rs1814238254
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile) rs200611924
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr) rs895271990
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln) rs375911218
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu)
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu) rs1027859307
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp) rs139732310
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys) rs1342501390
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val)
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu)
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr)
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn) rs2130816418
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys)
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys) rs1814270658
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro)
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu)
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp) rs1847627643
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr)
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys)
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val) rs1814273513
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser)
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly)
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile)
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp) rs1814276106
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn)
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val) rs1814277012
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys) rs1814277192
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser) rs1814277690
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu) rs913607878
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr) rs1180231209
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser) rs1180231209
NM_152564.5(VPS13B):c.8994+6A>G rs2130817893
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly)
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly)
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys)
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser) rs1847628494
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro)
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg) rs755304703
NM_152564.5(VPS13B):c.907C>G (p.His303Asp) rs1847628600
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=) rs2130822154
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly) rs778973890
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala)
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly) rs2130822238
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys)
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro) rs953473434
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe) rs984224710
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu)
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val) rs1386338109
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser) rs762740344
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly) rs1814518745
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly) rs1563492523
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu) rs768346495
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser) rs1814519813
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu)
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val) rs1814520891
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln) rs917260056
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup) rs1182385860
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr) rs748030120
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu)
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg) rs1814523416
NM_152564.5(VPS13B):c.9331-21_9331-3del rs370235149
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys)
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys)
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala)
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser) rs1490268361
NM_152564.5(VPS13B):c.937+4A>G
NM_152564.5(VPS13B):c.937+6G>A rs2132498266
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser)
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg)
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu) rs2130857969
NM_152564.5(VPS13B):c.938-8A>G
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg)
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr) rs2130858010
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro) rs2130858010
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe) rs1815131065
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala)
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser)
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro)
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr) rs1815134599
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser)
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp)
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg) rs2130858288
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg) rs771505935
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser) rs2130858328
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr)
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly) rs1815140494
NM_152564.5(VPS13B):c.9584G>T (p.Gly3195Val) rs1815141428
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr) rs747611342
NM_152564.5(VPS13B):c.9615G>T (p.Arg3205Ser)
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala) rs1563499365
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His) rs2130865452
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala)
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn) rs143852398
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr)
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg) rs1847916430
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp) rs1815326772
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln)
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg) rs1815327230
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys)
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala) rs1161857930
NM_152564.5(VPS13B):c.9742+3A>G rs375183964
NM_152564.5(VPS13B):c.9742+5G>A
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn) rs774374731
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu)
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile)
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu) rs1425945549
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr) rs1815347853
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile) rs1815351031
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys)
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe) rs563162284
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His)
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala)
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn)
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr) rs1195441250
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser)
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly) rs2130866768
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly)
NM_152564.5(VPS13B):c.9942+4A>C
NM_152564.5(VPS13B):c.9942+4A>G rs772319548
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln)
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly)
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys)
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu)
NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
NM_183235.3(RAB27A):c.153G>A (p.Val51=) rs1331587655
NM_183235.3(RAB27A):c.154-6T>A rs1895989137
NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys) rs1895985830
NM_183235.3(RAB27A):c.239+4T>G
NM_183235.3(RAB27A):c.239+5G>C rs1269990628
NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu) rs1371541124
NM_183235.3(RAB27A):c.307A>C (p.Asn103His) rs144492641
NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly) rs2140972816
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_183235.3(RAB27A):c.343+3A>G rs1895903423
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.355A>G (p.Met119Val)
NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)
NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn) rs2140958807
NM_183235.3(RAB27A):c.425T>C (p.Val142Ala) rs569221128
NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del) rs758624653
NM_183235.3(RAB27A):c.445A>G (p.Ile149Val) rs1197622697
NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys) rs1894613403
NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe) rs2140891385
NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser) rs928880499
NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)

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