ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2010
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HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=) rs3917981 0.59625
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=) rs3917980 0.28603
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His) rs3917991 0.05672
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr) rs3917973 0.02621
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974 0.02609
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817 0.02315
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn) rs3918018 0.02119
NM_000760.4(CSF3R):c.105C>A (p.Ile35=) rs3917954 0.01973
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_000760.4(CSF3R):c.726C>T (p.Ala242=) rs3918017 0.01333
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084 0.01094
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=) rs3917998 0.00872
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_007259.5(VPS45):c.290-14C>T rs148026724 0.00735
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His) rs3917996 0.00717
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729 0.00588
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019 0.00492
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795 0.00399
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423 0.00299
NM_032492.4(JAGN1):c.1A>G (p.Met1Val) rs143438463 0.00267
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_007259.5(VPS45):c.937-16G>A rs193195913 0.00191
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) rs35622214 0.00185
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=) rs113047241 0.00158
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=) rs116118817 0.00154
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=) rs138289951 0.00150
NM_032492.4(JAGN1):c.90-20C>T rs187981807 0.00144
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426 0.00135
NM_000760.4(CSF3R):c.704T>C (p.Met235Thr) rs141729889 0.00133
NM_000760.4(CSF3R):c.1577-12C>G rs200420429 0.00125
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser) rs141619366 0.00115
NM_138387.4(G6PC3):c.189C>T (p.Ile63=) rs144594971 0.00092
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr) rs142999683 0.00089
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_000760.4(CSF3R):c.1723+8T>C rs143931193 0.00076
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527 0.00076
NM_007259.5(VPS45):c.1626-14A>C rs201279066 0.00076
NM_032492.4(JAGN1):c.315C>A (p.Ile105=) rs185449117 0.00064
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_138387.4(G6PC3):c.468G>A (p.Ala156=) rs141663645 0.00061
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=) rs150501885 0.00056
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00050
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr) rs78861150 0.00042
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) rs144587192 0.00039
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) rs3917997 0.00037
NM_000760.4(CSF3R):c.93C>T (p.Val31=) rs150277708 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_000760.4(CSF3R):c.2211C>T (p.Ser737=) rs376211630 0.00034
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=) rs201244794 0.00033
NM_000760.4(CSF3R):c.486-14T>G rs201903505 0.00032
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732 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_000760.4(CSF3R):c.1510G>A (p.Val504Met) rs145256322 0.00026
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_000760.4(CSF3R):c.272A>G (p.His91Arg) rs148307285 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_007259.5(VPS45):c.1297C>A (p.Arg433=) rs140771138 0.00026
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_000760.4(CSF3R):c.765A>T (p.Pro255=) rs145439244 0.00023
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_007259.5(VPS45):c.1556A>G (p.Tyr519Cys) rs145193116 0.00021
NM_000760.4(CSF3R):c.855C>T (p.Leu285=) rs150784508 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_006118.4(HAX1):c.557-6T>C rs776550825 0.00018
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met) rs759506026 0.00016
NM_000760.4(CSF3R):c.1864+13G>A rs776320121 0.00016
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_007259.5(VPS45):c.1701G>A (p.Ala567=) rs377365764 0.00016
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_032492.4(JAGN1):c.90-19C>T rs201733831 0.00016
NM_000760.4(CSF3R):c.1665G>T (p.Gly555=) rs139705992 0.00015
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) rs746747614 0.00015
NM_000760.4(CSF3R):c.1761C>T (p.Leu587=) rs149239453 0.00014
NM_000760.4(CSF3R):c.1864+12C>T rs368290894 0.00014
NM_000760.4(CSF3R):c.846G>T (p.Val282=) rs144166608 0.00014
NM_006118.4(HAX1):c.54-18A>G rs375210100 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_000760.4(CSF3R):c.1509C>T (p.Ile503=) rs142503546 0.00013
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_000760.4(CSF3R):c.1704C>T (p.Asn568=) rs373727880 0.00012
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly) rs587646859 0.00012
NM_000760.4(CSF3R):c.142A>G (p.Ile48Val) rs1047054210 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_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_000760.4(CSF3R):c.1242C>T (p.Ala414=) rs146435131 0.00010
NM_000760.4(CSF3R):c.2484T>C (p.His828=) rs149680734 0.00010
NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro) rs377102404 0.00010
NM_006118.4(HAX1):c.505-14G>C rs200863707 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) rs373735080 0.00010
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00010
NM_138387.4(G6PC3):c.726C>T (p.His242=) rs147246080 0.00010
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_000760.4(CSF3R):c.2427C>T (p.Asp809=) rs369185814 0.00009
NM_000760.4(CSF3R):c.361+17A>C rs373559200 0.00009
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_007259.5(VPS45):c.114A>G (p.Val38=) rs1180456081 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_007259.5(VPS45):c.1264-14C>G rs587647418 0.00009
NM_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.264T>G (p.Gly88=) rs377286452 0.00009
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) rs750355531 0.00009
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu) rs34362628 0.00008
NM_000760.4(CSF3R):c.1185C>T (p.Cys395=) rs184980728 0.00008
NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr) rs769045336 0.00008
NM_000760.4(CSF3R):c.1724-15G>A rs371706347 0.00008
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) rs565088221 0.00008
NM_000760.4(CSF3R):c.885C>T (p.Cys295=) rs747273831 0.00008
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu) rs141512965 0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_007259.5(VPS45):c.1473C>T (p.Gly491=) rs142640111 0.00008
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) rs529935686 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) rs763953521 0.00007
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) rs776938018 0.00007
NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn) rs147017250 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_000760.4(CSF3R):c.1253G>A (p.Arg418His) rs564880597 0.00006
NM_000760.4(CSF3R):c.171G>A (p.Pro57=) rs200847455 0.00006
NM_000760.4(CSF3R):c.1812C>T (p.Ser604=) rs372180979 0.00006
NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser) rs1434097987 0.00006
NM_000760.4(CSF3R):c.234G>A (p.Leu78=) rs768137002 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_000760.4(CSF3R):c.60C>T (p.Pro20=) rs773341373 0.00006
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_007259.5(VPS45):c.1314C>T (p.Asp438=) rs781797197 0.00006
NM_007259.5(VPS45):c.1620G>A (p.Thr540=) rs144696919 0.00006
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) rs139992347 0.00006
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) rs1315600520 0.00006
NM_032492.4(JAGN1):c.189G>A (p.Leu63=) rs748678543 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.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) rs767810900 0.00006
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys) rs202238577 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_006118.4(HAX1):c.53+11G>A rs372098620 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.577-5C>T rs1266646389 0.00005
NM_007259.5(VPS45):c.687G>C (p.Gln229His) rs200019200 0.00005
NM_007259.5(VPS45):c.939G>A (p.Ala313=) rs142461153 0.00005
NM_138387.4(G6PC3):c.677+9C>T rs770887459 0.00005
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760 0.00004
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=) rs1447131096 0.00004
NM_000760.4(CSF3R):c.1263G>A (p.Pro421=) rs768308980 0.00004
NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr) rs748675453 0.00004
NM_000760.4(CSF3R):c.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.1680C>G (p.Thr560=) rs748313890 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_000760.4(CSF3R):c.1872G>A (p.Ser624=) rs145218850 0.00004
NM_000760.4(CSF3R):c.673+20G>A rs926138175 0.00004
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) rs199991273 0.00004
NM_000760.4(CSF3R):c.816G>A (p.Pro272=) rs200668866 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.505-16A>G rs551835048 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.290-13T>G rs781872625 0.00004
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_007259.5(VPS45):c.577-17T>C rs367947281 0.00004
NM_007259.5(VPS45):c.822+7G>C rs782697127 0.00004
NM_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.130C>T (p.Pro44Ser) rs775224457 0.00004
NM_138387.4(G6PC3):c.219-4C>A rs1378892385 0.00004
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) rs145419406 0.00004
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) rs148030756 0.00004
NM_138387.4(G6PC3):c.516G>C (p.Val172=) rs763502623 0.00004
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) rs201749454 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_000760.4(CSF3R):c.1044C>T (p.Asp348=) rs766845092 0.00003
NM_000760.4(CSF3R):c.1224T>A (p.Leu408=) rs754281164 0.00003
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) rs374536805 0.00003
NM_000760.4(CSF3R):c.1474+15G>C rs769098766 0.00003
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) rs764345289 0.00003
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) rs374780980 0.00003
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) rs372972496 0.00003
NM_000760.4(CSF3R):c.456A>G (p.Leu152=) rs373296999 0.00003
NM_000760.4(CSF3R):c.486-17G>A rs377125326 0.00003
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) rs762191036 0.00003
NM_000760.4(CSF3R):c.625C>T (p.Leu209=) rs768328227 0.00003
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) rs201037400 0.00003
NM_000760.4(CSF3R):c.90T>C (p.Ser30=) rs376890968 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_006118.4(HAX1):c.444T>C (p.Asp148=) rs114295590 0.00003
NM_006118.4(HAX1):c.594G>A (p.Pro198=) rs752302439 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_007259.5(VPS45):c.1272T>C (p.Ser424=) rs1476538589 0.00003
NM_007259.5(VPS45):c.756G>T (p.Val252=) rs375831361 0.00003
NM_007259.5(VPS45):c.780A>G (p.Arg260=) rs1301783999 0.00003
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) rs768937406 0.00003
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser) rs200023062 0.00003
NM_032492.4(JAGN1):c.27G>A (p.Ala9=) rs764805098 0.00003
NM_032492.4(JAGN1):c.336C>T (p.Ile112=) rs368122140 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) rs1191239079 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.413G>A (p.Arg138His) rs763535974 0.00003
NM_138387.4(G6PC3):c.536-10A>T rs866805011 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 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.59C>T (p.Ala20Val) rs777505318 0.00003
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) rs768565958 0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) rs748931188 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
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.1683C>T (p.His561=) rs771829515 0.00002
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) rs372318763 0.00002
NM_000760.4(CSF3R):c.189G>A (p.Trp63Ter) rs1286213872 0.00002
NM_000760.4(CSF3R):c.1947T>C (p.Cys649=) rs1005321266 0.00002
NM_000760.4(CSF3R):c.195G>A (p.Leu65=) rs369091565 0.00002
NM_000760.4(CSF3R):c.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.361+12C>T rs200681728 0.00002
NM_000760.4(CSF3R):c.48C>T (p.Ile16=) rs766497159 0.00002
NM_000760.4(CSF3R):c.673+16G>A rs938091790 0.00002
NM_000760.4(CSF3R):c.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.903G>A (p.Thr301=) rs746383447 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_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_006118.4(HAX1):c.225C>T (p.Phe75=) rs547500941 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_006118.4(HAX1):c.317-4G>T rs368305272 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.423T>C (p.Phe141=) rs200778148 0.00002
NM_006118.4(HAX1):c.429G>T (p.Gly143=) rs764127512 0.00002
NM_006118.4(HAX1):c.505-20T>C rs765259799 0.00002
NM_006118.4(HAX1):c.556+13G>A rs771282580 0.00002
NM_006118.4(HAX1):c.729C>T (p.His243=) rs145975391 0.00002
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007259.5(VPS45):c.1105-12A>G rs782626266 0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) rs781997687 0.00002
NM_007259.5(VPS45):c.1359C>A (p.Leu453=) rs782429614 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007259.5(VPS45):c.1401A>G (p.Gln467=) rs1553802459 0.00002
NM_007259.5(VPS45):c.1428T>C (p.His476=) rs782259938 0.00002
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=) rs150044678 0.00002
NM_007259.5(VPS45):c.1494-7A>G rs1435795274 0.00002
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) rs782426640 0.00002
NM_007259.5(VPS45):c.1689A>G (p.Thr563=) rs782289649 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_007259.5(VPS45):c.228+8A>G rs782133423 0.00002
NM_007259.5(VPS45):c.378T>C (p.Tyr126=) rs782457677 0.00002
NM_007259.5(VPS45):c.702C>G (p.Ala234=) rs782301145 0.00002
NM_007259.5(VPS45):c.711C>T (p.His237=) rs782676481 0.00002
NM_007259.5(VPS45):c.96T>G (p.Thr32=) rs182111359 0.00002
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) rs778975542 0.00002
NM_032492.4(JAGN1):c.12A>G (p.Arg4=) rs377365266 0.00002
NM_032492.4(JAGN1):c.30C>T (p.Ala10=) rs549030325 0.00002
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) rs771407343 0.00002
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) rs762857972 0.00002
NM_032492.4(JAGN1):c.432C>T (p.Ala144=) rs766336706 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_032492.4(JAGN1):c.480C>T (p.Ala160=) rs779442557 0.00002
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) rs201225696 0.00002
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) rs746741551 0.00002
NM_138387.4(G6PC3):c.1032C>T (p.His344=) rs774174457 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys) rs764229993 0.00002
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu) rs561313644 0.00002
NM_138387.4(G6PC3):c.536-7C>G rs754683713 0.00002
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) rs758478386 0.00002
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) rs765927570 0.00002
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) rs765872526 0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter) rs148559256 0.00002
NM_000760.4(CSF3R):c.1014G>A (p.Leu338=) rs147532578 0.00001
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) rs763356452 0.00001
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) rs140159756 0.00001
NM_000760.4(CSF3R):c.114G>A (p.Leu38=) rs765406291 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.1286-3C>T rs778391319 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.1407C>T (p.Ser469=) rs1306508815 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.1608G>A (p.Lys536=) rs1196522809 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.1686C>T (p.Tyr562=) rs1650461433 0.00001
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) rs746657668 0.00001
NM_000760.4(CSF3R):c.1725C>T (p.Ser575=) rs758984105 0.00001
NM_000760.4(CSF3R):c.1728C>T (p.Ala576=) rs1451236691 0.00001
NM_000760.4(CSF3R):c.1734G>T (p.Leu578=) rs1314251171 0.00001
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) rs1650440390 0.00001
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) rs750968883 0.00001
NM_000760.4(CSF3R):c.180G>A (p.Gln60=) rs1200828641 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.1926C>G (p.Leu642=) rs771240381 0.00001
NM_000760.4(CSF3R):c.2037G>A (p.Glu679=) rs1397528121 0.00001
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) rs201699446 0.00001
NM_000760.4(CSF3R):c.2106T>C (p.Asp702=) rs1650346965 0.00001
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) rs776535279 0.00001
NM_000760.4(CSF3R):c.2121G>A (p.Val707=) rs764603715 0.00001
NM_000760.4(CSF3R):c.2157C>T (p.Gly719=) rs768198697 0.00001
NM_000760.4(CSF3R):c.2187C>T (p.Leu729=) rs763256285 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000760.4(CSF3R):c.2223A>G (p.Gln741=) rs756684252 0.00001
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) rs1382959301 0.00001
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) rs372773604 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.340C>T (p.Gln114Ter) rs756667927 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.485+19C>T rs1383387694 0.00001
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) rs754336092 0.00001
NM_000760.4(CSF3R):c.558C>T (p.Cys186=) rs575622000 0.00001
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) rs372288734 0.00001
NM_000760.4(CSF3R):c.64+7del rs750628335 0.00001
NM_000760.4(CSF3R):c.663C>T (p.Pro221=) rs1420508617 0.00001
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) rs764202764 0.00001
NM_000760.4(CSF3R):c.782A>G (p.His261Arg) rs1650841565 0.00001
NM_000760.4(CSF3R):c.78C>T (p.Cys26=) rs767458386 0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs) rs759302795 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000760.4(CSF3R):c.820C>T (p.Arg274Cys) rs759587248 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_006118.4(HAX1):c.106G>A (p.Glu36Lys) rs754167096 0.00001
NM_006118.4(HAX1):c.12T>C (p.Phe4=) rs1490644075 0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.180A>G (p.Glu60=) rs950658160 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=) rs1684867511 0.00001
NM_006118.4(HAX1):c.270C>T (p.Ser90=) rs754177724 0.00001
NM_006118.4(HAX1):c.316+19G>A rs747989063 0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter) rs374758765 0.00001
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.393G>A (p.Lys131=) rs763126649 0.00001
NM_006118.4(HAX1):c.407del (p.His136fs) rs748595772 0.00001
NM_006118.4(HAX1):c.459C>T (p.Ser153=) rs1306497969 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.465A>G (p.Gln155=) rs1684879648 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.504+7A>G rs1684881000 0.00001
NM_006118.4(HAX1):c.504+7dup rs1300694878 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.53+9A>C rs756747610 0.00001
NM_006118.4(HAX1):c.54-4T>A rs908920404 0.00001
NM_006118.4(HAX1):c.54-6T>C rs556100256 0.00001
NM_006118.4(HAX1):c.549G>A (p.Glu183=) rs535226830 0.00001
NM_006118.4(HAX1):c.557-19C>T rs1050683276 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.57C>T (p.His19=) rs941774283 0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637 0.00001
NM_006118.4(HAX1):c.660T>C (p.Asp220=) rs746250096 0.00001
NM_006118.4(HAX1):c.663+1G>A rs41313932 0.00001
NM_006118.4(HAX1):c.664-10C>T rs369087332 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.755-6C>T rs749368917 0.00001
NM_006118.4(HAX1):c.795T>C (p.Phe265=) rs886038568 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.822T>C (p.Arg274=) rs756399040 0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln) rs746872949 0.00001
NM_006118.4(HAX1):c.837G>A (p.Arg279=) rs780915317 0.00001
NM_007259.5(VPS45):c.1002G>C (p.Val334=) rs1655788033 0.00001
NM_007259.5(VPS45):c.1014G>A (p.Leu338=) rs1035463342 0.00001
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter) rs782504130 0.00001
NM_007259.5(VPS45):c.1023G>A (p.Leu341=) rs781805887 0.00001
NM_007259.5(VPS45):c.1104+10A>G rs1259869305 0.00001
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) rs1656346466 0.00001
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) rs782104716 0.00001
NM_007259.5(VPS45):c.1164G>A (p.Val388=) rs370958835 0.00001
NM_007259.5(VPS45):c.1179A>G (p.Leu393=) rs1656349407 0.00001
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) rs782194772 0.00001
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) rs782431885 0.00001
NM_007259.5(VPS45):c.1260A>G (p.Arg420=) rs1656355917 0.00001
NM_007259.5(VPS45):c.1326C>T (p.Pro442=) rs371945894 0.00001
NM_007259.5(VPS45):c.1335T>C (p.Ala445=) rs1330742139 0.00001
NM_007259.5(VPS45):c.1338G>A (p.Val446=) rs1656378115 0.00001
NM_007259.5(VPS45):c.1344C>T (p.Ile448=) rs933924434 0.00001
NM_007259.5(VPS45):c.1372-9C>T rs201173713 0.00001
NM_007259.5(VPS45):c.1372-9_1372-8del rs782327109 0.00001
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) rs917642055 0.00001
NM_007259.5(VPS45):c.1458A>G (p.Leu486=) rs782320365 0.00001
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile) rs1323351672 0.00001
NM_007259.5(VPS45):c.1625+19T>G rs1003447515 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.201G>A (p.Lys67=) rs782546296 0.00001
NM_007259.5(VPS45):c.210T>C (p.Cys70=) rs782670487 0.00001
NM_007259.5(VPS45):c.229-19C>T rs1400300011 0.00001
NM_007259.5(VPS45):c.234T>C (p.Asn78=) rs782045429 0.00001
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro) rs782513242 0.00001
NM_007259.5(VPS45):c.290-11_290-10del rs1389688490 0.00001
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274 0.00001
NM_007259.5(VPS45):c.345A>G (p.Glu115=) rs1655380604 0.00001
NM_007259.5(VPS45):c.439-14T>G rs781842590 0.00001
NM_007259.5(VPS45):c.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.48G>A (p.Glu16=) rs1250860828 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.624G>A (p.Glu208=) rs782290162 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.679C>T (p.Leu227=) rs1655478636 0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909 0.00001
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374 0.00001
NM_007259.5(VPS45):c.759G>A (p.Pro253=) rs782131359 0.00001
NM_007259.5(VPS45):c.765C>T (p.Ile255=) rs1329207920 0.00001
NM_007259.5(VPS45):c.78C>T (p.Leu26=) rs1233278099 0.00001
NM_007259.5(VPS45):c.823-8T>C rs1019641850 0.00001
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) rs782164464 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.906G>A (p.Gln302=) rs781829979 0.00001
NM_007259.5(VPS45):c.915A>G (p.Leu305=) rs1385543985 0.00001
NM_007259.5(VPS45):c.930C>T (p.Asp310=) rs145369624 0.00001
NM_007259.5(VPS45):c.937-7A>G rs1177905127 0.00001
NM_007259.5(VPS45):c.93G>A (p.Thr31=) rs1387315578 0.00001
NM_007259.5(VPS45):c.94-5T>C rs1553796313 0.00001
NM_007259.5(VPS45):c.957A>C (p.Pro319=) rs587769473 0.00001
NM_032492.4(JAGN1):c.117G>A (p.Lys39=) rs763900045 0.00001
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.123C>A (p.Ile41=) rs140024249 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.168C>T (p.Ser56=) rs1265469155 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.207C>T (p.Ala69=) rs759083520 0.00001
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) rs776475085 0.00001
NM_032492.4(JAGN1):c.330T>C (p.Phe110=) rs2082574589 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.39C>T (p.Asp13=) rs751452713 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys) rs200485958 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_032492.4(JAGN1):c.90-9G>C rs762370289 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.132C>T (p.Pro44=) rs200427598 0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs) rs769441127 0.00001
NM_138387.4(G6PC3):c.218+1G>A rs772298089 0.00001
NM_138387.4(G6PC3):c.21G>T (p.Ala7=) rs1322272335 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.399G>A (p.Val133=) rs1191355690 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) rs778761991 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-12C>A rs766176177 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) rs2049967702 0.00001
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) rs1290235695 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) rs766506200 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) rs756698645 0.00001
NM_138387.4(G6PC3):c.677+10G>A rs776838775 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.678-14C>A rs1418045272 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 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.879G>A (p.Leu293=) rs780718603 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) rs142944376 0.00001
NM_138387.4(G6PC3):c.906C>T (p.His302=) rs770799037 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) rs752964083 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 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.(?_153963273)_(154580482_?)del
NC_000001.10:g.(?_154246017)_(154247306_?)del
NC_000001.10:g.(?_36931958)_(36937267_?)dup
NC_000001.10:g.(?_36940958)_(36941294_?)del
NC_000001.11:g.(?_154274930)_(154275721_?)del
NC_000003.11:g.(?_9908818)_(10191649_?)dup
NC_000003.11:g.(?_9908818)_(9932515_?)dup
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NC_000017.10:g.(?_42151508)_(42153411_?)del
NC_000017.10:g.(?_42151508)_(42153411_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
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.105C>T (p.Ile35=) rs3917954
NM_000760.4(CSF3R):c.1071+13G>A rs1470411346
NM_000760.4(CSF3R):c.1071+1_1071+5dup rs770568094
NM_000760.4(CSF3R):c.1071+8C>T
NM_000760.4(CSF3R):c.1072-14C>G
NM_000760.4(CSF3R):c.1072-18T>C
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C rs992318824
NM_000760.4(CSF3R):c.1072-3C>T
NM_000760.4(CSF3R):c.1072-8C>A rs2124119433
NM_000760.4(CSF3R):c.1072-9G>A rs1650746294
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) rs751225562
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) rs1650741888
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
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.1176G>A (p.Glu392=)
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) rs1163985254
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
NM_000760.4(CSF3R):c.1197G>A (p.Leu399=) rs898927823
NM_000760.4(CSF3R):c.1212G>A (p.Gln404=) rs559429248
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1245G>C (p.Gly415=)
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.1262C>T (p.Pro421Leu)
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) rs746450541
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
NM_000760.4(CSF3R):c.1285+17G>T
NM_000760.4(CSF3R):c.1285+3A>G
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) rs1650719908
NM_000760.4(CSF3R):c.1286-4C>T rs1570583247
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.1308T>C (p.His436=)
NM_000760.4(CSF3R):c.1317C>T (p.Ala439=)
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) rs1260196968
NM_000760.4(CSF3R):c.1331G>A (p.Ser444Asn)
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>A (p.Pro451Thr)
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) rs139862991
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) rs2124111294
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
NM_000760.4(CSF3R):c.1372G>A (p.Gly458Ser)
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) rs2124111042
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) rs367641463
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.1404del (p.Ser469fs) rs747437399
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+16A>G
NM_000760.4(CSF3R):c.1474+19G>T rs747544404
NM_000760.4(CSF3R):c.1474+3G>A rs2124109417
NM_000760.4(CSF3R):c.1475-3C>A
NM_000760.4(CSF3R):c.1485G>C (p.Arg495Ser)
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
NM_000760.4(CSF3R):c.1506C>T (p.Ile502=)
NM_000760.4(CSF3R):c.1512G>A (p.Val504=) rs1650544652
NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) rs1236469336
NM_000760.4(CSF3R):c.1530C>T (p.Asp510=)
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) rs2124107417
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
NM_000760.4(CSF3R):c.1543T>C (p.Ser515Pro)
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
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.1576+11T>C
NM_000760.4(CSF3R):c.1576+2T>A
NM_000760.4(CSF3R):c.1577-1G>A
NM_000760.4(CSF3R):c.1577-20G>A
NM_000760.4(CSF3R):c.1580C>T (p.Pro527Leu)
NM_000760.4(CSF3R):c.1587T>C (p.His529=) rs778419529
NM_000760.4(CSF3R):c.1589C>T (p.Ala530Val)
NM_000760.4(CSF3R):c.1605A>G (p.Leu535=)
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.1616G>A (p.Gly539Asp)
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.1678A>T (p.Thr560Ser)
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) rs1198283969
NM_000760.4(CSF3R):c.168C>T (p.Asp56=)
NM_000760.4(CSF3R):c.1718C>T (p.Ser573Phe)
NM_000760.4(CSF3R):c.1723+10T>C
NM_000760.4(CSF3R):c.1723+13T>G
NM_000760.4(CSF3R):c.1723+19C>T
NM_000760.4(CSF3R):c.1723+4A>G
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-10C>A
NM_000760.4(CSF3R):c.1724-20T>C
NM_000760.4(CSF3R):c.1724-6T>G rs1217235164
NM_000760.4(CSF3R):c.1724-7C>T
NM_000760.4(CSF3R):c.1724-9C>T
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
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.1773G>A (p.Glu591=) rs2124102034
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
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.1815G>A (p.Gln605=)
NM_000760.4(CSF3R):c.1823CCA[1] (p.Thr609del)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_000760.4(CSF3R):c.1840C>T (p.Leu614Phe)
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_000760.4(CSF3R):c.1864+17G>A
NM_000760.4(CSF3R):c.1864+7G>T rs1375923168
NM_000760.4(CSF3R):c.1865-16C>A
NM_000760.4(CSF3R):c.1865-19G>A
NM_000760.4(CSF3R):c.1865-19G>C
NM_000760.4(CSF3R):c.1865-20C>T rs375651066
NM_000760.4(CSF3R):c.1865-4G>A
NM_000760.4(CSF3R):c.1869G>T (p.Gly623=)
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) rs1334552669
NM_000760.4(CSF3R):c.1899C>T (p.Phe633=)
NM_000760.4(CSF3R):c.1911G>A (p.Leu637=)
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
NM_000760.4(CSF3R):c.1914G>A (p.Leu638=)
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
NM_000760.4(CSF3R):c.1931G>A (p.Gly644Glu)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.193C>T (p.Leu65=)
NM_000760.4(CSF3R):c.1958+18A>G rs755191694
NM_000760.4(CSF3R):c.1958+19C>T
NM_000760.4(CSF3R):c.1958+20C>G
NM_000760.4(CSF3R):c.1958+3G>A
NM_000760.4(CSF3R):c.1959-13C>A
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.1959-6C>T
NM_000760.4(CSF3R):c.1961G>A (p.Arg654Lys)
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
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.203_221del (p.Glu68fs) rs757401069
NM_000760.4(CSF3R):c.2040+13G>A
NM_000760.4(CSF3R):c.2040+15G>A
NM_000760.4(CSF3R):c.2040+20del
NM_000760.4(CSF3R):c.2040+4A>G
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
NM_000760.4(CSF3R):c.2090C>T (p.Thr697Ile)
NM_000760.4(CSF3R):c.2093T>G (p.Val698Gly)
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) rs370491074
NM_000760.4(CSF3R):c.2136T>C (p.His712=)
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
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.2150C>T (p.Thr717Ile)
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) rs538096821
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) rs2124096799
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
NM_000760.4(CSF3R):c.2213C>T (p.Thr738Ile)
NM_000760.4(CSF3R):c.2221C>T (p.Gln741Ter) rs1650335100
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) rs1296151274
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2266C>T (p.Leu756=)
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
NM_000760.4(CSF3R):c.2275C>T (p.Pro759Ser)
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) rs1436771935
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) rs1481867581
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.2309G>A (p.Cys770Tyr)
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
NM_000760.4(CSF3R):c.2324C>T (p.Pro775Leu)
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) rs138866886
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.2333C>T (p.Ala778Val)
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2361T>A (p.Tyr787Ter)
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) rs946096806
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) rs1183274433
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) rs1557585422
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) rs1207837094
NM_000760.4(CSF3R):c.2393G>A (p.Gly798Glu)
NM_000760.4(CSF3R):c.2403A>G (p.Val801=) rs2124095601
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.2431T>G (p.Cys811Gly)
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) rs1650313816
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
NM_000760.4(CSF3R):c.2461C>G (p.Leu821Val)
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_000760.4(CSF3R):c.2480T>C (p.Val827Ala)
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.270C>T (p.Pro90=)
NM_000760.4(CSF3R):c.273C>T (p.His91=)
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) rs1434762753
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
NM_000760.4(CSF3R):c.280C>G (p.His94Asp)
NM_000760.4(CSF3R):c.281A>G (p.His94Arg)
NM_000760.4(CSF3R):c.285T>C (p.Thr95=)
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) rs1463924000
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
NM_000760.4(CSF3R):c.304T>C (p.Cys102Arg)
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) rs750132507
NM_000760.4(CSF3R):c.324C>T (p.Ser108=) rs2124136036
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) rs1290014200
NM_000760.4(CSF3R):c.327G>A (p.Leu109=)
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) rs2124152665
NM_000760.4(CSF3R):c.333C>T (p.Ile111=)
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) rs139022075
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
NM_000760.4(CSF3R):c.35C>G (p.Ala12Gly)
NM_000760.4(CSF3R):c.361+15C>T
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.366T>G (p.Pro122=) rs201313973
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.396C>G (p.Leu132=)
NM_000760.4(CSF3R):c.407C>T (p.Thr136Ile)
NM_000760.4(CSF3R):c.41T>C (p.Leu14Pro)
NM_000760.4(CSF3R):c.420C>T (p.Leu140=) rs1650945872
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.435G>A (p.Glu145=)
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+13C>T rs2124129153
NM_000760.4(CSF3R):c.485+18C>T rs1421627142
NM_000760.4(CSF3R):c.485+6G>C
NM_000760.4(CSF3R):c.485+8G>A
NM_000760.4(CSF3R):c.486-5G>A
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) rs1650924939
NM_000760.4(CSF3R):c.506C>A (p.Thr169Asn)
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
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.57C>T (p.Leu19=)
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
NM_000760.4(CSF3R):c.618G>A (p.Glu206=) rs113122356
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
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.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) rs2124127693
NM_000760.4(CSF3R):c.65-1G>A
NM_000760.4(CSF3R):c.65-2A>C
NM_000760.4(CSF3R):c.65-6C>A
NM_000760.4(CSF3R):c.65-8C>T rs1322634596
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+12A>G
NM_000760.4(CSF3R):c.673+15G>A
NM_000760.4(CSF3R):c.673+4G>A
NM_000760.4(CSF3R):c.673+7G>A
NM_000760.4(CSF3R):c.674-10C>T
NM_000760.4(CSF3R):c.674-15C>T
NM_000760.4(CSF3R):c.679C>T (p.Leu227=)
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
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.703A>G (p.Met235Val)
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
NM_000760.4(CSF3R):c.70G>A (p.Glu24Lys)
NM_000760.4(CSF3R):c.712dup (p.Ser238fs)
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
NM_000760.4(CSF3R):c.723G>A (p.Ala241=) rs202080839
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.762G>A (p.Glu254=)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.777C>A (p.Gly259=)
NM_000760.4(CSF3R):c.787A>C (p.Asn263His) rs2124124079
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) rs767458386
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.832_835dup (p.Trp279Ter)
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) rs1650834725
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
NM_000760.4(CSF3R):c.841C>T (p.Leu281=)
NM_000760.4(CSF3R):c.843+19T>A
NM_000760.4(CSF3R):c.843+19T>C
NM_000760.4(CSF3R):c.843+9G>A
NM_000760.4(CSF3R):c.844-3C>T
NM_000760.4(CSF3R):c.844-8C>G rs200218331
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.851C>T (p.Pro284Leu)
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
NM_000760.4(CSF3R):c.875A>T (p.Tyr292Phe)
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) rs1489427982
NM_000760.4(CSF3R):c.902C>T (p.Thr301Met)
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.918G>A (p.Gln306=)
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.927C>T (p.Cys309=) rs1570588349
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.935_963del (p.Arg311_Trp312insTer) rs1570588220
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) rs1426986770
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
NM_000760.4(CSF3R):c.967C>A (p.Pro323Thr)
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.97G>A (p.Ala33Thr)
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_000760.4(CSF3R):c.997+13T>A
NM_000760.4(CSF3R):c.997+13T>C
NM_000760.4(CSF3R):c.997+18G>A
NM_000760.4(CSF3R):c.998-18_998-17dup
NM_000760.4(CSF3R):c.998-19C>T rs2124121672
NM_000760.4(CSF3R):c.998-1G>A rs1248511242
NM_000760.4(CSF3R):c.998-2A>T rs879253750
NM_000760.4(CSF3R):c.998C>T (p.Ala333Val)
NM_000760.4(CSF3R):c.99C>A (p.Ala33=) rs1557597747
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
NM_006118.4(HAX1):c.105_107del (p.Glu40del) rs752101273
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.106G>C (p.Glu36Gln)
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
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.108A>G (p.Glu36=) rs11556342
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.109G>T (p.Glu37Ter)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala) rs1220347048
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.123G>C (p.Gly41=) rs1057521590
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
NM_006118.4(HAX1):c.135_137del (p.Arg46del) rs746771318
NM_006118.4(HAX1):c.146del (p.Pro49fs) rs2149139668
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.162T>C (p.Pro54=) rs1684862702
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs) rs2149139706
NM_006118.4(HAX1):c.168C>T (p.His56=) rs756371972
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser) rs1260994720
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.174T>A (p.Pro58=) rs757349543
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.186C>T (p.Gly62=)
NM_006118.4(HAX1):c.189C>T (p.Phe63=)
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.18C>T (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.190G>A (p.Gly64Ser)
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.214_217dup (p.Ile73fs) rs2149139793
NM_006118.4(HAX1):c.216G>C (p.Gly72=)
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.21C>T (p.Phe7=) rs2149138533
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs) rs2149139817
NM_006118.4(HAX1):c.246T>C (p.Asp82=) rs2149139825
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.276C>T (p.Phe92=) rs1394401898
NM_006118.4(HAX1):c.279C>T (p.Ser93=) rs1684868690
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
NM_006118.4(HAX1):c.288G>A (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.288G>C (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.291C>T (p.Ala97=)
NM_006118.4(HAX1):c.30T>C (p.Phe10=) rs2149138547
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
NM_006118.4(HAX1):c.316+10T>G rs2149139872
NM_006118.4(HAX1):c.316+12dup rs1278748171
NM_006118.4(HAX1):c.316+17A>G
NM_006118.4(HAX1):c.316+17_316+28del rs1484850337
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-11C>T
NM_006118.4(HAX1):c.317-17C>G
NM_006118.4(HAX1):c.317-17C>T
NM_006118.4(HAX1):c.317-19A>C
NM_006118.4(HAX1):c.317-19A>G
NM_006118.4(HAX1):c.317-9T>A rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.319C>T (p.Leu107Phe)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.339_340del (p.Glu113fs)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter) rs1487742962
NM_006118.4(HAX1):c.363G>A (p.Glu121=) rs2149139958
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.368_381del (p.Gln123fs) rs1425877227
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.381C>T (p.Asp127=)
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.396T>C (p.Tyr132=) rs2149139988
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.414C>T (p.Pro138=) rs1572018842
NM_006118.4(HAX1):c.420C>A (p.Ile140=) rs2149139999
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.426G>A (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.426G>C (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg) rs1001874105
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser) rs1684878785
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
NM_006118.4(HAX1):c.456A>G (p.Glu152=) rs2149140027
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
NM_006118.4(HAX1):c.462C>A (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.462C>G (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.471A>G (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.471A>T (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu) rs1310502848
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter) rs1392118289
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys) rs1392118289
NM_006118.4(HAX1):c.486C>T (p.Ser162=) rs2149140052
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter) rs2149140056
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
NM_006118.4(HAX1):c.501T>C (p.His167=) rs2149140060
NM_006118.4(HAX1):c.504+10C>A
NM_006118.4(HAX1):c.504+10C>T
NM_006118.4(HAX1):c.504+12A>C
NM_006118.4(HAX1):c.504+12A>G
NM_006118.4(HAX1):c.504+12A>T
NM_006118.4(HAX1):c.504+15T>C
NM_006118.4(HAX1):c.504+19C>T
NM_006118.4(HAX1):c.504+1G>A rs2149140065
NM_006118.4(HAX1):c.504+9C>G rs2149140073
NM_006118.4(HAX1):c.505-13G>T
NM_006118.4(HAX1):c.505-1G>C
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
NM_006118.4(HAX1):c.516A>G (p.Val172=) rs1684900369
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
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.528C>T (p.Asp176=)
NM_006118.4(HAX1):c.53+13C>T rs759011018
NM_006118.4(HAX1):c.53+16G>A
NM_006118.4(HAX1):c.53+19C>T
NM_006118.4(HAX1):c.53+3GA[3]
NM_006118.4(HAX1):c.53+6_53+7insT
NM_006118.4(HAX1):c.53+7G>A rs2149138580
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
NM_006118.4(HAX1):c.54-12C>T
NM_006118.4(HAX1):c.54-14G>A
NM_006118.4(HAX1):c.54-15T>G
NM_006118.4(HAX1):c.54-20C>G
NM_006118.4(HAX1):c.54-2A>T rs764765550
NM_006118.4(HAX1):c.54-4T>G rs908920404
NM_006118.4(HAX1):c.54-5C>T rs1357333154
NM_006118.4(HAX1):c.54-8A>G rs2149139463
NM_006118.4(HAX1):c.54-9del rs2149139460
NM_006118.4(HAX1):c.543C>A (p.Thr181=)
NM_006118.4(HAX1):c.552C>T (p.Asp184=) rs2149140492
NM_006118.4(HAX1):c.556+11A>G
NM_006118.4(HAX1):c.556+15A>C
NM_006118.4(HAX1):c.556+15A>G
NM_006118.4(HAX1):c.556+17G>T rs2149140505
NM_006118.4(HAX1):c.556+1G>A
NM_006118.4(HAX1):c.556+1G>C rs1684901295
NM_006118.4(HAX1):c.556+1del rs2149140495
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.556+9G>A
NM_006118.4(HAX1):c.557-11T>C
NM_006118.4(HAX1):c.557-12C>G rs1553289863
NM_006118.4(HAX1):c.557-16C>T
NM_006118.4(HAX1):c.557-18A>G
NM_006118.4(HAX1):c.557-1G>A
NM_006118.4(HAX1):c.557-1G>C rs1684904805
NM_006118.4(HAX1):c.557-5T>C
NM_006118.4(HAX1):c.557-7C>T
NM_006118.4(HAX1):c.557-8T>C rs1684904629
NM_006118.4(HAX1):c.557-9C>A rs1684904587
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.567C>T (p.Ser189=) rs2149140587
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.58dup (p.Arg20fs) rs2149139493
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln) rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.606C>G (p.Pro202=) rs1684905836
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis) rs2149139500
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
NM_006118.4(HAX1):c.612C>G (p.Pro204=) rs755648319
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.626A>G (p.Lys209Arg)
NM_006118.4(HAX1):c.633C>A (p.Ile211=)
NM_006118.4(HAX1):c.645G>A (p.Lys215=) rs2149140634
NM_006118.4(HAX1):c.654A>G (p.Lys218=)
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.65C>T (p.Pro22Leu)
NM_006118.4(HAX1):c.663+14_663+17del rs2149140652
NM_006118.4(HAX1):c.663+20dup
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.663G>A (p.Gly221=)
NM_006118.4(HAX1):c.664-13C>T
NM_006118.4(HAX1):c.664-1G>A
NM_006118.4(HAX1):c.664-1G>T rs2149140690
NM_006118.4(HAX1):c.664-4G>A
NM_006118.4(HAX1):c.664-5T>G
NM_006118.4(HAX1):c.664-6T>C rs2149140688
NM_006118.4(HAX1):c.664-8C>G
NM_006118.4(HAX1):c.664-8C>T
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr) rs753448581
NM_006118.4(HAX1):c.666A>T (p.Ile222=) rs2149140695
NM_006118.4(HAX1):c.678C>T (p.Arg226=) rs1684911540
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
NM_006118.4(HAX1):c.680G>A (p.Arg227Gln)
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
NM_006118.4(HAX1):c.684T>G (p.Thr228=) rs2149140709
NM_006118.4(HAX1):c.690G>A (p.Val230=)
NM_006118.4(HAX1):c.699G>A (p.Glu233=) rs1398388092
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
NM_006118.4(HAX1):c.702C>T (p.Gly234=) rs2149140719
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.717A>G (p.Thr239=) rs911542597
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.754+12G>A rs2149140759
NM_006118.4(HAX1):c.754+16A>G rs370265383
NM_006118.4(HAX1):c.754+16_754+17del
NM_006118.4(HAX1):c.754+17A>G rs2149140768
NM_006118.4(HAX1):c.754+18G>T
NM_006118.4(HAX1):c.754+19G>C
NM_006118.4(HAX1):c.754+7T>G
NM_006118.4(HAX1):c.754+8A>C rs766977977
NM_006118.4(HAX1):c.755-12T>A rs2149140818
NM_006118.4(HAX1):c.755-13C>T
NM_006118.4(HAX1):c.755-17A>G
NM_006118.4(HAX1):c.755-19G>A rs367977880
NM_006118.4(HAX1):c.755-19G>T
NM_006118.4(HAX1):c.755-4T>C
NM_006118.4(HAX1):c.755-5C>G
NM_006118.4(HAX1):c.755-5C>T rs2149140820
NM_006118.4(HAX1):c.768A>C (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.768A>G (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.780C>A (p.Ala260=) rs2149140833
NM_006118.4(HAX1):c.781C>G (p.Leu261Val) rs2149140834
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe) rs1684917433
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.802C>T (p.Leu268=) rs2149140852
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
NM_006118.4(HAX1):c.837G>C (p.Arg279=)
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
NM_006118.4(HAX1):c.93_95del (p.Glu31del) rs773579418
NM_006118.4(HAX1):c.96T>C (p.Asp32=) rs2149139550
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del) rs560912060
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
NM_006118.4(HAX1):c.9C>G (p.Leu3=) rs2149138508
NM_006118.4(HAX1):c.9C>T (p.Leu3=) rs2149138508
NM_007259.5(VPS45):c.1005T>A (p.Val335=)
NM_007259.5(VPS45):c.1005T>C (p.Val335=) rs2101538747
NM_007259.5(VPS45):c.1011A>G (p.Glu337=) rs781878634
NM_007259.5(VPS45):c.1021T>C (p.Leu341=)
NM_007259.5(VPS45):c.1041G>A (p.Leu347=) rs2101538873
NM_007259.5(VPS45):c.1042C>T (p.Leu348=) rs2101538885
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
NM_007259.5(VPS45):c.1074C>T (p.Ala358=)
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
NM_007259.5(VPS45):c.1092T>C (p.Ser364=)
NM_007259.5(VPS45):c.1098T>C (p.Ala366=)
NM_007259.5(VPS45):c.1104+14G>A
NM_007259.5(VPS45):c.1104+17G>A
NM_007259.5(VPS45):c.1104+19G>A
NM_007259.5(VPS45):c.1104+7C>T rs1571834548
NM_007259.5(VPS45):c.1104+8C>T
NM_007259.5(VPS45):c.1105-10C>T rs2101565432
NM_007259.5(VPS45):c.1105-11T>C
NM_007259.5(VPS45):c.1105-12A>C
NM_007259.5(VPS45):c.1105-12_1105-9del
NM_007259.5(VPS45):c.1105-14C>G
NM_007259.5(VPS45):c.1105-15del
NM_007259.5(VPS45):c.1105-5T>C rs2101565451
NM_007259.5(VPS45):c.1116G>A (p.Arg372=) rs1302292445
NM_007259.5(VPS45):c.1122G>T (p.Leu374=)
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
NM_007259.5(VPS45):c.1134A>G (p.Lys378=)
NM_007259.5(VPS45):c.1152T>A (p.Ala384=)
NM_007259.5(VPS45):c.1152T>C (p.Ala384=)
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
NM_007259.5(VPS45):c.1155C>T (p.Ala385=) rs1553801991
NM_007259.5(VPS45):c.1158C>G (p.Arg386=) rs1571849016
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) rs188130682
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
NM_007259.5(VPS45):c.1170T>C (p.Leu390=) rs2101565709
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=)
NM_007259.5(VPS45):c.1176T>C (p.Ala392=)
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.1194C>T (p.His398=)
NM_007259.5(VPS45):c.1200C>T (p.Ser400=)
NM_007259.5(VPS45):c.1203T>C (p.Asn401=)
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
NM_007259.5(VPS45):c.1212A>G (p.Pro404=) rs2101565926
NM_007259.5(VPS45):c.1218A>T (p.Leu406=)
NM_007259.5(VPS45):c.1221G>A (p.Met407Ile)
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
NM_007259.5(VPS45):c.1233G>A (p.Arg411=) rs2101565990
NM_007259.5(VPS45):c.123A>G (p.Gln41=) rs1654857826
NM_007259.5(VPS45):c.1242T>A (p.Gly414=)
NM_007259.5(VPS45):c.1242T>G (p.Gly414=)
NM_007259.5(VPS45):c.1263+10T>C
NM_007259.5(VPS45):c.1263+11T>A
NM_007259.5(VPS45):c.1263+11dup
NM_007259.5(VPS45):c.1263+13C>T
NM_007259.5(VPS45):c.1263+14A>T
NM_007259.5(VPS45):c.1263+16A>G
NM_007259.5(VPS45):c.1263+17T>A
NM_007259.5(VPS45):c.1263+7A>G
NM_007259.5(VPS45):c.1263+8G>A
NM_007259.5(VPS45):c.1264-13del
NM_007259.5(VPS45):c.1264-14C>T
NM_007259.5(VPS45):c.1264-9_1264-6del
NM_007259.5(VPS45):c.1266C>G (p.Leu422=)
NM_007259.5(VPS45):c.1266C>T (p.Leu422=) rs782520287
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) rs201002467
NM_007259.5(VPS45):c.1269G>A (p.Val423=)
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) rs1571849671
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
NM_007259.5(VPS45):c.1299A>C (p.Arg433=) rs2101566674
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
NM_007259.5(VPS45):c.133C>T (p.Leu45=) rs2101476530
NM_007259.5(VPS45):c.1341T>A (p.Ala447=) rs2101566942
NM_007259.5(VPS45):c.1347C>A (p.Thr449=) rs2101566957
NM_007259.5(VPS45):c.1347C>T (p.Thr449=)
NM_007259.5(VPS45):c.1353A>G (p.Gln451=)
NM_007259.5(VPS45):c.1359C>T (p.Leu453=)
NM_007259.5(VPS45):c.135A>G (p.Leu45=) rs782284311
NM_007259.5(VPS45):c.1365A>T (p.Gly455=)
NM_007259.5(VPS45):c.1368G>A (p.Leu456=)
NM_007259.5(VPS45):c.1371+10TC[3] rs2101567083
NM_007259.5(VPS45):c.1371+11C>G
NM_007259.5(VPS45):c.1371+13C>G
NM_007259.5(VPS45):c.1371+14C>T
NM_007259.5(VPS45):c.1371+14_1371+16del
NM_007259.5(VPS45):c.1371+15T>C
NM_007259.5(VPS45):c.1371+16C>G
NM_007259.5(VPS45):c.1371+16C>T
NM_007259.5(VPS45):c.1371+18A>G
NM_007259.5(VPS45):c.1371+9A>G rs368568806
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.1372-10C>T
NM_007259.5(VPS45):c.1372-20A>G
NM_007259.5(VPS45):c.1372-3del
NM_007259.5(VPS45):c.1372-4T>C
NM_007259.5(VPS45):c.1372-6T>C
NM_007259.5(VPS45):c.1372-7G>C rs2101570024
NM_007259.5(VPS45):c.1372-8del
NM_007259.5(VPS45):c.1372-9C>G
NM_007259.5(VPS45):c.1374A>G (p.Gly458=)
NM_007259.5(VPS45):c.1386A>G (p.Val462=) rs959109809
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)
NM_007259.5(VPS45):c.1392A>T (p.Thr464=)
NM_007259.5(VPS45):c.1410A>G (p.Leu470=) rs2101570132
NM_007259.5(VPS45):c.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.1419C>G (p.Thr473=)
NM_007259.5(VPS45):c.1419C>T (p.Thr473=)
NM_007259.5(VPS45):c.1443G>A (p.Arg481=)
NM_007259.5(VPS45):c.1455C>T (p.Asn485=) rs1656463069
NM_007259.5(VPS45):c.1458A>C (p.Leu486=)
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg) rs1553802482
NM_007259.5(VPS45):c.1476C>A (p.Pro492=)
NM_007259.5(VPS45):c.1476C>G (p.Pro492=) rs1253982752
NM_007259.5(VPS45):c.1479C>T (p.Ser493=) rs2101570323
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) rs1656465946
NM_007259.5(VPS45):c.1482A>G (p.Thr494=) rs782409875
NM_007259.5(VPS45):c.1491C>T (p.Asp497=) rs782007834
NM_007259.5(VPS45):c.1493+12A>G rs587746538
NM_007259.5(VPS45):c.1493+14G>T
NM_007259.5(VPS45):c.1493+18T>C
NM_007259.5(VPS45):c.1494-14C>A
NM_007259.5(VPS45):c.1494-14C>T
NM_007259.5(VPS45):c.1494-15del
NM_007259.5(VPS45):c.1494-17A>T
NM_007259.5(VPS45):c.1494-5T>C rs781920624
NM_007259.5(VPS45):c.1494-6T>C
NM_007259.5(VPS45):c.1500G>A (p.Gln500=)
NM_007259.5(VPS45):c.1509T>A (p.Ile503=) rs2101608863
NM_007259.5(VPS45):c.1512G>A (p.Val504=)
NM_007259.5(VPS45):c.1515T>C (p.Phe505=)
NM_007259.5(VPS45):c.1518A>G (p.Val506=)
NM_007259.5(VPS45):c.1518A>T (p.Val506=)
NM_007259.5(VPS45):c.1530C>T (p.Ala510=)
NM_007259.5(VPS45):c.1533C>T (p.Thr511=)
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) rs1571879434
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) rs2101608934
NM_007259.5(VPS45):c.1550C>T (p.Thr517Ile)
NM_007259.5(VPS45):c.1551A>C (p.Thr517=)
NM_007259.5(VPS45):c.1560C>T (p.Asn520=) rs2101608985
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) rs1191051819
NM_007259.5(VPS45):c.1572C>T (p.Thr524=) rs782816408
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) rs2101609044
NM_007259.5(VPS45):c.1582G>A (p.Val528Met)
NM_007259.5(VPS45):c.1584G>A (p.Val528=) rs2101609056
NM_007259.5(VPS45):c.1594C>T (p.Leu532=)
NM_007259.5(VPS45):c.1596G>A (p.Leu532=)
NM_007259.5(VPS45):c.159A>G (p.Glu53=)
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
NM_007259.5(VPS45):c.1605C>A (p.Thr535=) rs782478918
NM_007259.5(VPS45):c.1605C>G (p.Thr535=)
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
NM_007259.5(VPS45):c.1614C>T (p.His538=)
NM_007259.5(VPS45):c.1623A>G (p.Lys541=) rs1553807022
NM_007259.5(VPS45):c.1625+15T>G
NM_007259.5(VPS45):c.1625+9_1625+10del
NM_007259.5(VPS45):c.1625G>C (p.Ser542Thr)
NM_007259.5(VPS45):c.1626-17C>T
NM_007259.5(VPS45):c.1626-18C>T
NM_007259.5(VPS45):c.1626-4T>C
NM_007259.5(VPS45):c.1626-4T>G rs1327671540
NM_007259.5(VPS45):c.1626-5A>T rs2101672275
NM_007259.5(VPS45):c.1626-8C>T
NM_007259.5(VPS45):c.1626-8del rs1571931824
NM_007259.5(VPS45):c.1641T>C (p.Val547=) rs1355098112
NM_007259.5(VPS45):c.1642C>T (p.Leu548=)
NM_007259.5(VPS45):c.1653A>G (p.Gly551=) rs1553816156
NM_007259.5(VPS45):c.1653A>T (p.Gly551=)
NM_007259.5(VPS45):c.1656G>T (p.Leu552=) rs1571931928
NM_007259.5(VPS45):c.1659C>T (p.His553=)
NM_007259.5(VPS45):c.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.1689A>T (p.Thr563=) rs782289649
NM_007259.5(VPS45):c.168T>C (p.Asp56=)
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
NM_007259.5(VPS45):c.1701G>C (p.Ala567=)
NM_007259.5(VPS45):c.1701G>T (p.Ala567=) rs377365764
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) rs782358688
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=)
NM_007259.5(VPS45):c.1712G>A (p.Ter571=) rs782075318
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) rs1654862605
NM_007259.5(VPS45):c.178C>A (p.Arg60=)
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
NM_007259.5(VPS45):c.186C>A (p.Ile62=) rs1553796358
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.204A>G (p.Ala68=) rs1553796373
NM_007259.5(VPS45):c.219A>C (p.Arg73=)
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) rs1374559604
NM_007259.5(VPS45):c.228+12dup
NM_007259.5(VPS45):c.228+17G>A
NM_007259.5(VPS45):c.228+19_228+22dup
NM_007259.5(VPS45):c.228+7C>A
NM_007259.5(VPS45):c.228+7C>T rs782018422
NM_007259.5(VPS45):c.228+9T>C rs1654867997
NM_007259.5(VPS45):c.228G>A (p.Lys76=)
NM_007259.5(VPS45):c.229-10C>A rs781990380
NM_007259.5(VPS45):c.229-5dup rs781925027
NM_007259.5(VPS45):c.229-6T>C rs2101495459
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
NM_007259.5(VPS45):c.246T>A (p.Ile82=)
NM_007259.5(VPS45):c.246T>C (p.Ile82=) rs62622370
NM_007259.5(VPS45):c.251A>G (p.Gln84Arg)
NM_007259.5(VPS45):c.258C>G (p.Leu86=)
NM_007259.5(VPS45):c.259C>A (p.Arg87=) rs782463106
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg) rs781906938
NM_007259.5(VPS45):c.270A>G (p.Lys90=)
NM_007259.5(VPS45):c.276T>C (p.Thr92=) rs2101495807
NM_007259.5(VPS45):c.27G>A (p.Gln9=) rs1654813865
NM_007259.5(VPS45):c.285C>T (p.Phe95=) rs140400945
NM_007259.5(VPS45):c.289+15T>G
NM_007259.5(VPS45):c.289+16C>T
NM_007259.5(VPS45):c.289+19T>C
NM_007259.5(VPS45):c.290-12C>G
NM_007259.5(VPS45):c.290-12C>T
NM_007259.5(VPS45):c.290-18C>G
NM_007259.5(VPS45):c.290-18C>T
NM_007259.5(VPS45):c.290-19C>T
NM_007259.5(VPS45):c.290-20C>A
NM_007259.5(VPS45):c.294C>T (p.Phe98=)
NM_007259.5(VPS45):c.297T>C (p.Ser99=)
NM_007259.5(VPS45):c.300T>C (p.Asn100=)
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
NM_007259.5(VPS45):c.303G>T (p.Val101=)
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.321G>A (p.Val107=)
NM_007259.5(VPS45):c.324G>A (p.Lys108=) rs2101515532
NM_007259.5(VPS45):c.327A>G (p.Ser109=)
NM_007259.5(VPS45):c.328T>C (p.Leu110=) rs2101515546
NM_007259.5(VPS45):c.336A>G (p.Glu112=) rs1571822136
NM_007259.5(VPS45):c.33T>C (p.Ile11=)
NM_007259.5(VPS45):c.348G>A (p.Gln116=)
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) rs2101515689
NM_007259.5(VPS45):c.357G>A (p.Val119=) rs2101515731
NM_007259.5(VPS45):c.363G>A (p.Glu121=)
NM_007259.5(VPS45):c.369+10T>C
NM_007259.5(VPS45):c.369+20A>G
NM_007259.5(VPS45):c.369+7A>G rs2101515804
NM_007259.5(VPS45):c.369+9A>G
NM_007259.5(VPS45):c.369+9_369+10del rs2101515817
NM_007259.5(VPS45):c.370-15G>A
NM_007259.5(VPS45):c.370-16G>A
NM_007259.5(VPS45):c.370-18T>C
NM_007259.5(VPS45):c.370-9T>C rs2101518189
NM_007259.5(VPS45):c.372A>G (p.Glu124=) rs2101518267
NM_007259.5(VPS45):c.399C>T (p.Asn133=) rs2101518426
NM_007259.5(VPS45):c.402A>G (p.Pro134=)
NM_007259.5(VPS45):c.404A>G (p.His135Arg) rs781981353
NM_007259.5(VPS45):c.405T>C (p.His135=)
NM_007259.5(VPS45):c.406T>C (p.Leu136=) rs2101518468
NM_007259.5(VPS45):c.414C>T (p.Ser138=)
NM_007259.5(VPS45):c.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.429T>C (p.Gly143=)
NM_007259.5(VPS45):c.432C>T (p.Cys144=)
NM_007259.5(VPS45):c.435C>T (p.Cys145=) rs2101518656
NM_007259.5(VPS45):c.438+13A>G
NM_007259.5(VPS45):c.438+14G>A
NM_007259.5(VPS45):c.438+18T>C
NM_007259.5(VPS45):c.438+7A>G rs2101518689
NM_007259.5(VPS45):c.438+9G>A
NM_007259.5(VPS45):c.439-10dup
NM_007259.5(VPS45):c.439-2del rs782005099
NM_007259.5(VPS45):c.439-6A>G rs1272899698
NM_007259.5(VPS45):c.439-6A>T rs1272899698
NM_007259.5(VPS45):c.439-7C>T
NM_007259.5(VPS45):c.441T>C (p.Gly147=)
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter) rs1655433446
NM_007259.5(VPS45):c.447T>C (p.Asn149=) rs1553798264
NM_007259.5(VPS45):c.456A>G (p.Pro152=) rs2101519305
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) rs998654797
NM_007259.5(VPS45):c.465A>G (p.Leu155=) rs2101519368
NM_007259.5(VPS45):c.468T>C (p.Ser156=)
NM_007259.5(VPS45):c.468T>G (p.Ser156=) rs2101519395
NM_007259.5(VPS45):c.474A>T (p.Thr158=) rs2101519449
NM_007259.5(VPS45):c.489A>G (p.Thr163=)
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
NM_007259.5(VPS45):c.491C>T (p.Ala164Val)
NM_007259.5(VPS45):c.513G>A (p.Lys171=)
NM_007259.5(VPS45):c.516T>C (p.Cys172=)
NM_007259.5(VPS45):c.519C>T (p.Pro173=)
NM_007259.5(VPS45):c.525T>A (p.Ile175=)
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro) rs142225617
NM_007259.5(VPS45):c.528T>C (p.Arg176=)
NM_007259.5(VPS45):c.531T>C (p.Tyr177=)
NM_007259.5(VPS45):c.537C>G (p.Leu179=)
NM_007259.5(VPS45):c.537C>T (p.Leu179=) rs782397315
NM_007259.5(VPS45):c.540A>T (p.Ser180=)
NM_007259.5(VPS45):c.543A>G (p.Ser181=) rs2101519854
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
NM_007259.5(VPS45):c.564A>T (p.Ala188=)
NM_007259.5(VPS45):c.573T>A (p.Val191=)
NM_007259.5(VPS45):c.576+12C>T
NM_007259.5(VPS45):c.576+15A>G
NM_007259.5(VPS45):c.576+18C>T
NM_007259.5(VPS45):c.576+20T>C
NM_007259.5(VPS45):c.576+4T>C rs1553798326
NM_007259.5(VPS45):c.576+6G>A
NM_007259.5(VPS45):c.576+7C>T
NM_007259.5(VPS45):c.576+8A>G rs2101520081
NM_007259.5(VPS45):c.577-13C>G
NM_007259.5(VPS45):c.577-13C>T
NM_007259.5(VPS45):c.577-4A>G rs782591820
NM_007259.5(VPS45):c.577-6C>A
NM_007259.5(VPS45):c.577-9C>T rs2101521609
NM_007259.5(VPS45):c.57G>A (p.Gly19=)
NM_007259.5(VPS45):c.582G>A (p.Val194=)
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
NM_007259.5(VPS45):c.591A>G (p.Lys197=)
NM_007259.5(VPS45):c.597T>C (p.Tyr199=) rs781964920
NM_007259.5(VPS45):c.600A>G (p.Glu200=)
NM_007259.5(VPS45):c.603G>A (p.Leu201=)
NM_007259.5(VPS45):c.609A>G (p.Glu203=)
NM_007259.5(VPS45):c.615T>C (p.Arg205=) rs2101521872
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
NM_007259.5(VPS45):c.621A>C (p.Thr207=) rs1655474952
NM_007259.5(VPS45):c.634T>C (p.Leu212=)
NM_007259.5(VPS45):c.645T>A (p.Ile215=) rs2101522081
NM_007259.5(VPS45):c.654C>G (p.Arg218=)
NM_007259.5(VPS45):c.658G>C (p.Asp220His) rs1175122293
NM_007259.5(VPS45):c.663T>C (p.Asp221=) rs2101522140
NM_007259.5(VPS45):c.666C>A (p.Ala222=)
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_007259.5(VPS45):c.675A>G (p.Pro225=) rs1553798458
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
NM_007259.5(VPS45):c.684C>T (p.Asn228=) rs937860591
NM_007259.5(VPS45):c.687+19G>T
NM_007259.5(VPS45):c.687+20C>A
NM_007259.5(VPS45):c.687+5A>G
NM_007259.5(VPS45):c.687+9C>T
NM_007259.5(VPS45):c.688-10C>T
NM_007259.5(VPS45):c.688-16A>G
NM_007259.5(VPS45):c.688-18T>C
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.696T>C (p.Tyr232=)
NM_007259.5(VPS45):c.6C>T (p.Asn2=) rs1571803153
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.708C>G (p.Val236=)
NM_007259.5(VPS45):c.708C>T (p.Val236=)
NM_007259.5(VPS45):c.714A>G (p.Glu238=)
NM_007259.5(VPS45):c.717A>G (p.Leu239=) rs782635202
NM_007259.5(VPS45):c.720A>G (p.Leu240=)
NM_007259.5(VPS45):c.72A>G (p.Val24=) rs2101472739
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile) rs782367453
NM_007259.5(VPS45):c.747T>G (p.Leu249=) rs2101534085
NM_007259.5(VPS45):c.750C>T (p.Ser250=) rs1571831530
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe) rs2101534236
NM_007259.5(VPS45):c.783A>G (p.Glu261=) rs1655704399
NM_007259.5(VPS45):c.786G>A (p.Val262=) rs2101534304
NM_007259.5(VPS45):c.790C>T (p.Leu264=)
NM_007259.5(VPS45):c.816T>C (p.Tyr272=) rs782759963
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) rs2101534429
NM_007259.5(VPS45):c.822+14A>T
NM_007259.5(VPS45):c.822+16T>G
NM_007259.5(VPS45):c.822+9T>A rs781898521
NM_007259.5(VPS45):c.822+9T>C
NM_007259.5(VPS45):c.823-11C>T rs1655733894
NM_007259.5(VPS45):c.823-12T>C
NM_007259.5(VPS45):c.823-13T>C
NM_007259.5(VPS45):c.823-20T>C
NM_007259.5(VPS45):c.823-5C>T
NM_007259.5(VPS45):c.823-7T>G rs2101535746
NM_007259.5(VPS45):c.832C>T (p.Leu278=)
NM_007259.5(VPS45):c.852T>A (p.Gly284=)
NM_007259.5(VPS45):c.852T>C (p.Gly284=) rs2101535822
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
NM_007259.5(VPS45):c.87A>G (p.Lys29=)
NM_007259.5(VPS45):c.888G>A (p.Lys296=) rs1315600520
NM_007259.5(VPS45):c.921A>C (p.Ser307=) rs2101536025
NM_007259.5(VPS45):c.926C>G (p.Ala309Gly)
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) rs782583704
NM_007259.5(VPS45):c.93+10C>G
NM_007259.5(VPS45):c.93+13_93+14dup
NM_007259.5(VPS45):c.93+14T>C
NM_007259.5(VPS45):c.93+16C>T
NM_007259.5(VPS45):c.93+17T>G
NM_007259.5(VPS45):c.93+18C>A
NM_007259.5(VPS45):c.93+19A>T rs2101473009
NM_007259.5(VPS45):c.936+11C>G
NM_007259.5(VPS45):c.936+11C>T
NM_007259.5(VPS45):c.936+12A>G
NM_007259.5(VPS45):c.936+13T>C
NM_007259.5(VPS45):c.936+14G>A
NM_007259.5(VPS45):c.936+15T>G
NM_007259.5(VPS45):c.936+16A>G rs2101536193
NM_007259.5(VPS45):c.936+5A>G
NM_007259.5(VPS45):c.936+9A>C
NM_007259.5(VPS45):c.937-10C>A rs587634693
NM_007259.5(VPS45):c.937-11del
NM_007259.5(VPS45):c.937-12T>A
NM_007259.5(VPS45):c.937-8C>T rs2101538592
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
NM_007259.5(VPS45):c.94-16T>C
NM_007259.5(VPS45):c.94-18A>T
NM_007259.5(VPS45):c.942T>C (p.Phe314=)
NM_007259.5(VPS45):c.948G>A (p.Glu316=)
NM_007259.5(VPS45):c.957A>G (p.Pro319=)
NM_007259.5(VPS45):c.96T>C (p.Thr32=)
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
NM_007259.5(VPS45):c.993T>C (p.His331=)
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
NM_032492.4(JAGN1):c.105T>C (p.Tyr35=)
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.120G>A (p.Leu40=) rs2082572609
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.138C>T (p.Val46=) rs528473640
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.159T>C (p.Ala53=) rs201196372
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.186C>G (p.Leu62=) rs776988033
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.228C>T (p.Tyr76=)
NM_032492.4(JAGN1):c.231G>A (p.Pro77=)
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.264C>T (p.Gly88=)
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.270C>G (p.Leu90=)
NM_032492.4(JAGN1):c.279C>T (p.Pro93=) rs1444280254
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.327C>G (p.Leu109=)
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
NM_032492.4(JAGN1):c.391C>T (p.Arg131Cys)
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.438C>T (p.Ser146=)
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.495C>T (p.Tyr165=)
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.525C>G (p.Thr175=)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)
NM_032492.4(JAGN1):c.551G>A (p.Ter184=)
NM_032492.4(JAGN1):c.57C>T (p.His19=) rs2082556963
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.78C>T (p.His26=)
NM_032492.4(JAGN1):c.89+15G>T
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89+20G>T
NM_032492.4(JAGN1):c.89+5G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
NM_032492.4(JAGN1):c.90-13C>G
NM_032492.4(JAGN1):c.90-16C>T
NM_032492.4(JAGN1):c.90-18C>G rs371744656
NM_032492.4(JAGN1):c.90-4A>G
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.1014G>A (p.Gln338=)
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=)
NM_138387.4(G6PC3):c.1038C>T (p.Ser346=)
NM_138387.4(G6PC3):c.105C>A (p.Pro35=)
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) rs2144135194
NM_138387.4(G6PC3):c.108G>A (p.Lys36=)
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) rs1157699874
NM_138387.4(G6PC3):c.118C>T (p.Leu40=)
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.127T>C (p.Phe43Leu)
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)
NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.138C>T (p.Ala46=)
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)
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.147C>T (p.Ala49=)
NM_138387.4(G6PC3):c.153C>G (p.Arg51=) rs761215881
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.171G>A (p.Val57=)
NM_138387.4(G6PC3):c.171G>T (p.Val57=) rs759787635
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) rs752966267
NM_138387.4(G6PC3):c.182G>C (p.Ser61Thr)
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) rs2144135656
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.192C>T (p.Thr64=) rs780837377
NM_138387.4(G6PC3):c.195G>A (p.Glu65=)
NM_138387.4(G6PC3):c.19G>A (p.Ala7Thr)
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.213C>T (p.Phe71=) rs1392954032
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+14G>C
NM_138387.4(G6PC3):c.218+16C>T
NM_138387.4(G6PC3):c.218+17del
NM_138387.4(G6PC3):c.218+18T>C
NM_138387.4(G6PC3):c.218+20C>T
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.218+8A>G
NM_138387.4(G6PC3):c.218+9G>C
NM_138387.4(G6PC3):c.219-12G>A
NM_138387.4(G6PC3):c.219-12G>T
NM_138387.4(G6PC3):c.219-18G>T
NM_138387.4(G6PC3):c.219-18dup
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.234C>T (p.Asp78=)
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) rs960728758
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
NM_138387.4(G6PC3):c.261T>C (p.Ser87=)
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
NM_138387.4(G6PC3):c.287A>G (p.Gln96Arg)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.325+14A>G
NM_138387.4(G6PC3):c.325+14_325+17del
NM_138387.4(G6PC3):c.325+18T>C
NM_138387.4(G6PC3):c.325+20del
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325+8G>A
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.326-19C>T
NM_138387.4(G6PC3):c.326-20G>A
NM_138387.4(G6PC3):c.326-2A>G
NM_138387.4(G6PC3):c.326-3_343del
NM_138387.4(G6PC3):c.326-7C>T
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
NM_138387.4(G6PC3):c.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.376del (p.Ile125_Met126insTer)
NM_138387.4(G6PC3):c.37G>A (p.Glu13Lys)
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.384C>G (p.Ala128=)
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.392C>T (p.Ser131Leu)
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
NM_138387.4(G6PC3):c.402C>T (p.Ala134=)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
NM_138387.4(G6PC3):c.416+11G>A
NM_138387.4(G6PC3):c.416+13C>A
NM_138387.4(G6PC3):c.416+13C>T
NM_138387.4(G6PC3):c.416+14A>G
NM_138387.4(G6PC3):c.416+17G>A
NM_138387.4(G6PC3):c.416+19C>G
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416+8C>G
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.417-10_417-9del
NM_138387.4(G6PC3):c.417-11C>G
NM_138387.4(G6PC3):c.417-11C>T
NM_138387.4(G6PC3):c.417-13C>T
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-15C>G
NM_138387.4(G6PC3):c.417-16C>T
NM_138387.4(G6PC3):c.417-18T>G
NM_138387.4(G6PC3):c.417-19T>G
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.417-8_417-6del
NM_138387.4(G6PC3):c.417-9T>C
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) rs2144134939
NM_138387.4(G6PC3):c.464del (p.Leu155fs) rs1295168770
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) rs141663645
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
NM_138387.4(G6PC3):c.482G>A (p.Arg161Gln)
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) rs2144149561
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
NM_138387.4(G6PC3):c.510C>T (p.His170=) rs2050059834
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.535+14G>A
NM_138387.4(G6PC3):c.535+14G>C rs756398916
NM_138387.4(G6PC3):c.535+17A>C
NM_138387.4(G6PC3):c.535+18C>T
NM_138387.4(G6PC3):c.535+19G>A
NM_138387.4(G6PC3):c.535+20G>C
NM_138387.4(G6PC3):c.535+8A>G
NM_138387.4(G6PC3):c.536-11C>T
NM_138387.4(G6PC3):c.536-11_536-7del
NM_138387.4(G6PC3):c.536-14C>T
NM_138387.4(G6PC3):c.536-2A>G
NM_138387.4(G6PC3):c.536-4C>G rs2144151616
NM_138387.4(G6PC3):c.536-4dup
NM_138387.4(G6PC3):c.536-5C>T
NM_138387.4(G6PC3):c.538G>A (p.Ala180Thr)
NM_138387.4(G6PC3):c.540T>A (p.Ala180=)
NM_138387.4(G6PC3):c.544C>T (p.Leu182=)
NM_138387.4(G6PC3):c.555G>A (p.Leu185=)
NM_138387.4(G6PC3):c.55C>T (p.Leu19=)
NM_138387.4(G6PC3):c.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.575dup (p.Met192fs)
NM_138387.4(G6PC3):c.57A>G (p.Leu19=)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)
NM_138387.4(G6PC3):c.616C>T (p.Leu206Phe)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.635del (p.Leu212fs) rs769634275
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) rs1409898506
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) rs2050074491
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
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+11C>T
NM_138387.4(G6PC3):c.677+1G>A rs778208850
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.678-15T>A
NM_138387.4(G6PC3):c.678-16C>T
NM_138387.4(G6PC3):c.678-6C>T
NM_138387.4(G6PC3):c.678-8C>A rs753515098
NM_138387.4(G6PC3):c.678-8C>T
NM_138387.4(G6PC3):c.684C>A (p.Ile228=)
NM_138387.4(G6PC3):c.684C>T (p.Ile228=)
NM_138387.4(G6PC3):c.688C>T (p.Leu230=)
NM_138387.4(G6PC3):c.693C>G (p.Ala231=)
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.714T>C (p.Pro238=)
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.732T>C (p.Asp244=) 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.747C>T (p.Ala249=)
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
NM_138387.4(G6PC3):c.756C>T (p.Ser252=)
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del) rs777475388
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
NM_138387.4(G6PC3):c.798C>T (p.His266=) rs558164927
NM_138387.4(G6PC3):c.799T>G (p.Ser267Ala)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) rs2144155706
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) rs960279172
NM_138387.4(G6PC3):c.81C>G (p.Leu27=)
NM_138387.4(G6PC3):c.81C>T (p.Leu27=) rs1324312988
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
NM_138387.4(G6PC3):c.837A>G (p.Gly279=)
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.855C>T (p.Ala285=)
NM_138387.4(G6PC3):c.858C>T (p.Cys286=)
NM_138387.4(G6PC3):c.861T>A (p.Leu287=)
NM_138387.4(G6PC3):c.861T>C (p.Leu287=)
NM_138387.4(G6PC3):c.863T>C (p.Val288Ala)
NM_138387.4(G6PC3):c.865C>T (p.Leu289=)
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) rs2144135089
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
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.908C>T (p.Pro303Leu)
NM_138387.4(G6PC3):c.909C>A (p.Pro303=)
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) rs978510802
NM_138387.4(G6PC3):c.927C>T (p.Phe309=)
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.942C>T (p.Phe314=)
NM_138387.4(G6PC3):c.945C>G (p.Leu315=)
NM_138387.4(G6PC3):c.954C>T (p.Thr318=)
NM_138387.4(G6PC3):c.957C>T (p.Leu319=)
NM_138387.4(G6PC3):c.978C>T (p.Ala326=)
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) rs1448628053
NM_138387.4(G6PC3):c.993A>G (p.Ala331=)
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)

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