ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 757
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_138387.4(G6PC3):c.*97G>C rs565305947 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.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala) rs146014368 0.00050
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys) rs3917997 0.00037
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.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.272A>G (p.His91Arg) rs148307285 0.00026
NM_007259.5(VPS45):c.-4C>T rs200563209 0.00026
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092 0.00019
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_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00016
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn) rs746747614 0.00015
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.2072C>T (p.Pro691Leu) rs183614500 0.00013
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.-164G>A rs886052985 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.524T>C (p.Leu175Pro) rs377102404 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr) rs782059726 0.00010
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln) rs373735080 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_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 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.-178C>A rs767632217 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.1484G>C (p.Arg495Thr) rs769045336 0.00008
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala) rs565088221 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.462G>A (p.Gln154=) rs781792682 0.00008
NM_007259.5(VPS45):c.785T>C (p.Val262Ala) rs148174305 0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser) rs763953521 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_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.2011G>A (p.Gly671Ser) rs1434097987 0.00006
NM_000760.4(CSF3R):c.353G>A (p.Arg118His) rs923298829 0.00006
NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser) rs949262067 0.00006
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00006
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp) rs200890522 0.00006
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg) rs139992347 0.00006
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn) rs1315600520 0.00006
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr) rs140585667 0.00006
NM_138387.4(G6PC3):c.169G>A (p.Val57Met) rs150477295 0.00006
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 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.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_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760 0.00004
NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser) rs374610386 0.00004
NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg) rs766274573 0.00004
NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr) rs756719784 0.00004
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu) rs144754091 0.00004
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val) rs199991273 0.00004
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp) rs367673863 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile) rs747655324 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 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.484A>G (p.Ile162Val) rs148030756 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met) rs764345289 0.00003
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val) rs372972496 0.00003
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp) rs762191036 0.00003
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys) rs201037400 0.00003
NM_000760.4(CSF3R):c.923G>A (p.Arg308His) rs148747030 0.00003
NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys) rs748394788 0.00003
NM_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.192A>T (p.Lys64Asn) rs1441537795 0.00003
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) rs768937406 0.00003
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser) rs200023062 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) rs946155355 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.574A>G (p.Met192Val) rs774843962 0.00003
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln) rs759401453 0.00003
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) rs768565958 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile) rs369635490 0.00002
NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu) rs200965005 0.00002
NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu) rs1294098023 0.00002
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu) rs948001842 0.00002
NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val) rs781634406 0.00002
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met) rs760231922 0.00002
NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu) rs763022964 0.00002
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp) rs372318763 0.00002
NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe) rs778281149 0.00002
NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe) rs1650331500 0.00002
NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys) rs150281231 0.00002
NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile) rs371426547 0.00002
NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln) rs138558210 0.00002
NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp) rs141083013 0.00002
NM_000760.4(CSF3R):c.843+3G>A rs373601431 0.00002
NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln) rs758186406 0.00002
NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr) rs750345536 0.00002
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln) rs756371972 0.00002
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg) rs370342620 0.00002
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp) rs782225422 0.00002
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg) rs190896405 0.00002
NM_007259.5(VPS45):c.1157G>A (p.Arg386His) rs781997687 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys) rs782426640 0.00002
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val) rs373074422 0.00002
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala) rs782052786 0.00002
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) rs778975542 0.00002
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) rs771407343 0.00002
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) rs762857972 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) rs746741551 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.757C>T (p.Arg253Cys) rs765927570 0.00002
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) rs765872526 0.00002
NM_000760.4(CSF3R):c.*161G>A rs772443391 0.00001
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln) rs140159756 0.00001
NM_000760.4(CSF3R):c.1216G>A (p.Val406Met) rs1364558879 0.00001
NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg) rs779227407 0.00001
NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala) rs1260196968 0.00001
NM_000760.4(CSF3R):c.1378G>A (p.Val460Met) rs758904378 0.00001
NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala) rs767301627 0.00001
NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His) rs1180227540 0.00001
NM_000760.4(CSF3R):c.160C>T (p.His54Tyr) rs371768579 0.00001
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg) rs763748002 0.00001
NM_000760.4(CSF3R):c.163C>G (p.Leu55Val) rs1651085213 0.00001
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu) rs746657668 0.00001
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala) rs1650440390 0.00001
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn) rs750968883 0.00001
NM_000760.4(CSF3R):c.1828A>C (p.Asn610His) rs1014131377 0.00001
NM_000760.4(CSF3R):c.1864+6G>A rs1374999733 0.00001
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser) rs201699446 0.00001
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu) rs776535279 0.00001
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter) rs1650335810 0.00001
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile) rs1382959301 0.00001
NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg) rs1375728977 0.00001
NM_000760.4(CSF3R):c.230G>A (p.Arg77His) rs761404285 0.00001
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn) rs567871402 0.00001
NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln) rs1332794856 0.00001
NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly) rs149231790 0.00001
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met) rs147091245 0.00001
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val) rs752051152 0.00001
NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu) rs1455346222 0.00001
NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile) rs1483194095 0.00001
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln) rs754336092 0.00001
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val) rs372288734 0.00001
NM_000760.4(CSF3R):c.686C>A (p.Pro229His) rs764202764 0.00001
NM_000760.4(CSF3R):c.782A>G (p.His261Arg) rs1650841565 0.00001
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg) rs759364352 0.00001
NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly) rs376634675 0.00001
NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn) rs772453466 0.00001
NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp) rs112400536 0.00001
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys) rs754167096 0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp) rs886045320 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr) rs745643366 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu) rs747372275 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.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser) rs759963419 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln) rs746872949 0.00001
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter) rs782504130 0.00001
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys) rs1656346466 0.00001
NM_007259.5(VPS45):c.1162G>A (p.Val388Met) rs782104716 0.00001
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly) rs782194772 0.00001
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg) rs917642055 0.00001
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile) rs1323351672 0.00001
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599 0.00001
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr) rs782327338 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.257T>C (p.Leu86Pro) rs782513242 0.00001
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274 0.00001
NM_007259.5(VPS45):c.353T>G (p.Val118Gly) rs1298740891 0.00001
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr) rs781964646 0.00001
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala) rs1553798269 0.00001
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala) rs142551106 0.00001
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg) rs200134576 0.00001
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys) rs782677308 0.00001
NM_007259.5(VPS45):c.580G>A (p.Val194Met) rs587713385 0.00001
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser) rs368347807 0.00001
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys) rs908608470 0.00001
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln) rs782495021 0.00001
NM_007259.5(VPS45):c.64A>G (p.Met22Val) rs782253570 0.00001
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys) rs1571825459 0.00001
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374 0.00001
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser) rs782164464 0.00001
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu) rs782739886 0.00001
NM_007259.5(VPS45):c.93G>A (p.Thr31=) rs1387315578 0.00001
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813 0.00001
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro) rs1297627583 0.00001
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) rs776475085 0.00001
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val) rs762026143 0.00001
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys) rs779485881 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg) rs1387440057 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 0.00001
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu) rs762536153 0.00001
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) rs1347079621 0.00001
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met) rs750937874 0.00001
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu) rs1356446581 0.00001
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) rs1336165706 0.00001
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met) rs748177654 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val) rs1016698344 0.00001
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) rs749505455 0.00001
NM_138387.4(G6PC3):c.821G>A (p.Arg274His) rs773183765 0.00001
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp) rs200393998 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 0.00001
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.(?_36940958)_(36941294_?)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_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala) rs1650787609
NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro) rs3917974
NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu) rs766845092
NM_000760.4(CSF3R):c.1071+1_1071+5dup rs770568094
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_000760.4(CSF3R):c.1072-3C>T
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser) rs751225562
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr) rs1650741888
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser)
NM_000760.4(CSF3R):c.1140G>C (p.Gln380His)
NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg)
NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser) rs1650737288
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro) rs1163985254
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr)
NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)
NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala)
NM_000760.4(CSF3R):c.1266G>A (p.Val422=) rs746450541
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
NM_000760.4(CSF3R):c.1285+3A>G
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser) rs1650719908
NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val)
NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser)
NM_000760.4(CSF3R):c.1307A>T (p.His436Leu) rs749559806
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser) rs1260196968
NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu)
NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys) rs766441662
NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met)
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser) rs139862991
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg) rs2124111042
NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe)
NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln)
NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr)
NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala) rs538923210
NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser) rs538923210
NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile)
NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys) rs2124110365
NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg) rs879052375
NM_000760.4(CSF3R):c.1474+3G>A rs2124109417
NM_000760.4(CSF3R):c.1475-3C>A
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala) rs2124107417
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn)
NM_000760.4(CSF3R):c.1569A>T (p.Gln523His)
NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile)
NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn) rs1196522809
NM_000760.4(CSF3R):c.160C>G (p.His54Asp) rs371768579
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu)
NM_000760.4(CSF3R):c.1646C>A (p.Pro549His) rs1650466012
NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg)
NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn)
NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser)
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp) rs1198283969
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-6T>G rs1217235164
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser)
NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys)
NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala)
NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr)
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs) rs1557587773
NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr)
NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser)
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile) rs764132853
NM_000760.4(CSF3R):c.1864+7G>T rs1375923168
NM_000760.4(CSF3R):c.1865-19G>A
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn) rs1334552669
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val)
NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys)
NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs) rs1420932797
NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly) rs2124136821
NM_000760.4(CSF3R):c.2040+4A>G
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp) rs370491074
NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg) rs375879178
NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp) rs375879178
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala) rs2124096799
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe) rs1296151274
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys) rs1436771935
NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg) rs2124096083
NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys) rs2124136605
NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)
NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)
NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val) rs1183274433
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr) rs1207837094
NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr) rs927190839
NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)
NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)
NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
NM_000760.4(CSF3R):c.2483A>G (p.His828Arg) rs1272584212
NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys) rs2124095140
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn)
NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile)
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val) rs1434762753
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del) rs1463924000
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys) rs750132507
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro) rs1290014200
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly) rs139022075
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe) rs2124129472
NM_000760.4(CSF3R):c.429G>T (p.Gln143His) rs766974881
NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys) rs2124129371
NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly)
NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr)
NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln)
NM_000760.4(CSF3R):c.485+6G>C
NM_000760.4(CSF3R):c.486-5G>A
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser) rs1650924939
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
NM_000760.4(CSF3R):c.532G>A (p.Val178Met) rs186379741
NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln) rs1557595050
NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg)
NM_000760.4(CSF3R):c.555C>G (p.His185Gln)
NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly)
NM_000760.4(CSF3R):c.569G>A (p.Arg190His)
NM_000760.4(CSF3R):c.576C>A (p.His192Gln)
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala) rs2124152542
NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly)
NM_000760.4(CSF3R):c.64+3G>A
NM_000760.4(CSF3R):c.664A>G (p.Met222Val) rs1650909656
NM_000760.4(CSF3R):c.665T>C (p.Met222Thr)
NM_000760.4(CSF3R):c.673+4G>A
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
NM_000760.4(CSF3R):c.693G>A (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.693G>T (p.Met231Ile) rs1468169521
NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp)
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu)
NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg) rs1216927796
NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala)
NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly) rs2124124183
NM_000760.4(CSF3R):c.787A>C (p.Asn263His) rs2124124079
NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys)
NM_000760.4(CSF3R):c.800A>T (p.Glu267Val) rs758364103
NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys) rs2124123972
NM_000760.4(CSF3R):c.806G>A (p.Arg269His)
NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln) rs367774391
NM_000760.4(CSF3R):c.821G>A (p.Arg274His)
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu) rs1489427982
NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn) rs201991840
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser) rs201991840
NM_000760.4(CSF3R):c.913C>G (p.Leu305Val)
NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys)
NM_000760.4(CSF3R):c.932G>A (p.Arg311His)
NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg)
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser) rs1426986770
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser) rs1570588198
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val) rs559114400
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_006118.3(HAX1):c.-150A>T rs544123058
NM_006118.4(HAX1):c.*1C>G rs747961567
NM_006118.4(HAX1):c.*80C>T rs912619566
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala) rs1220347048
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.135_137del (p.Arg46del) rs746771318
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro) rs761500862
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser) rs1260994720
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser) rs146452018
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp) rs1684865731
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del) rs1558251515
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-9T>A rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys) rs1684875501
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln) rs147036748
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg) rs1001874105
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser) rs1684878785
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu) rs1310502848
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys) rs1392118289
NM_006118.4(HAX1):c.521C>A (p.Pro174His) rs1257711613
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg) rs1257711613
NM_006118.4(HAX1):c.54-9del rs2149139460
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln) rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis) rs2149139500
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp) rs1684906279
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr) rs753448581
NM_006118.4(HAX1):c.677G>A (p.Arg226His) rs750920845
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.781C>G (p.Leu261Val) rs2149140834
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe) rs1684917433
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666
NM_006118.4(HAX1):c.93_95del (p.Glu31del) rs773579418
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del) rs560912060
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn) rs188130682
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
NM_007259.5(VPS45):c.1181A>G (p.His394Arg) rs1486347658
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys) rs1656350811
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln) rs1656350811
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
NM_007259.5(VPS45):c.123A>G (p.Gln41=) rs1654857826
NM_007259.5(VPS45):c.1267G>A (p.Val423Met) rs201002467
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln) rs1571849671
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
NM_007259.5(VPS45):c.1412A>G (p.His471Arg) rs782441436
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys) rs1656459616
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) rs1553802469
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg) rs1553802482
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile) rs1656465946
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly) rs1571879434
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr) rs2101608934
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu) rs1191051819
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg) rs2101609044
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro) rs142968690
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln)
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro)
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly) rs1278390607
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr) rs782358688
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg) rs1654862605
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
NM_007259.5(VPS45):c.187A>G (p.Met63Val) rs1553796360
NM_007259.5(VPS45):c.189G>T (p.Met63Ile)
NM_007259.5(VPS45):c.194A>G (p.His65Arg)
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser) rs1374559604
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg) rs781906938
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
NM_007259.5(VPS45):c.304A>G (p.Ile102Val)
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn) rs947757508
NM_007259.5(VPS45):c.319G>C (p.Val107Leu) rs782553177
NM_007259.5(VPS45):c.320T>A (p.Val107Glu)
NM_007259.5(VPS45):c.352G>A (p.Val118Ile) rs2101515689
NM_007259.5(VPS45):c.370-16G>A
NM_007259.5(VPS45):c.404A>G (p.His135Arg) rs781981353
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser) rs782339252
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe)
NM_007259.5(VPS45):c.429T>A (p.Gly143=)
NM_007259.5(VPS45):c.439-6A>G rs1272899698
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter) rs1655433446
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu) rs998654797
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro) rs142225617
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
NM_007259.5(VPS45):c.576+4T>C rs1553798326
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
NM_007259.5(VPS45):c.658G>C (p.Asp220His) rs1175122293
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
NM_007259.5(VPS45):c.687+5A>G
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys) rs1655694540
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs) rs782700993
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.739A>G (p.Ile247Val) rs1553799320
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile) rs782367453
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe) rs2101534236
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser) rs2101534429
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) rs782583704
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met) rs1215307853
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu) rs569985954
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr) rs2125061122
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr) rs2082573376
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs) rs1232664557
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser) rs1433604133
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly) rs866176976
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn) rs2082574453
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.392G>A (p.Arg131His) rs542419840
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr) rs1444848644
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp) rs1575466167
NM_032492.4(JAGN1):c.420del (p.Phe140fs)
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly) rs943577194
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr) rs1177521463
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys) rs372426169
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg) rs2082575975
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys) rs1043365547
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs) rs2082557086
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)
NM_032492.4(JAGN1):c.77A>T (p.His26Leu) rs1559259122
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
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.101A>T (p.Asp34Val) rs2049968647
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln) rs2144135194
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) rs1157699874
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) rs1417784733
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg) rs752966267
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
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.203A>G (p.Asn68Ser)
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
NM_138387.4(G6PC3):c.218+486A>G
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro) rs2144145534
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu) rs2144145566
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) rs2050044130
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys) rs2050045175
NM_138387.4(G6PC3):c.376A>G (p.Met126Val) rs1597908497
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile)
NM_138387.4(G6PC3):c.568G>A (p.Val190Met) rs2050072075
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) rs2144134978
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys) rs748442084
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) rs2144155135
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) rs1597911422
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg) rs2050088788
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) rs1198102696
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg) rs1158728815
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) rs960279172
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg) rs2050092912
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp) rs1335171821
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) rs2144135089
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr) rs2050096005
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) rs776556492
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) rs2144156840
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) rs2144156932
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu) rs1212393526
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) rs1448628053
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910

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