ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 838
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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.1174G>A (p.Ala392Thr) rs782059726 0.00019
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_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.1190G>A (p.Arg397Gln) rs373735080 0.00010
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 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_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.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_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.574T>C (p.Ser192Pro) rs751426915 0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_007259.5(VPS45):c.319G>A (p.Val107Met) rs782553177 0.00004
NM_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.10A>G (p.Thr4Ala) rs946155355 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_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.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.1014G>A (p.Leu338=) rs147532578 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.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.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.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.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.(?_36931958)_(36937267_?)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.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.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.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.1485G>C (p.Arg495Ser)
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.1543T>C (p.Ser515Pro)
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.1580C>T (p.Pro527Leu)
NM_000760.4(CSF3R):c.1589C>T (p.Ala530Val)
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.1718C>T (p.Ser573Phe)
NM_000760.4(CSF3R):c.1723+4A>G
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
NM_000760.4(CSF3R):c.1724-20T>C
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.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.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.1931G>A (p.Gly644Glu)
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
NM_000760.4(CSF3R):c.1958+3G>A
NM_000760.4(CSF3R):c.1959-4C>G
NM_000760.4(CSF3R):c.1961G>A (p.Arg654Lys)
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.2090C>T (p.Thr697Ile)
NM_000760.4(CSF3R):c.2093T>G (p.Val698Gly)
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.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.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.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.2245C>T (p.Gln749Ter) rs1650332196
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.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.2333C>A (p.Ala778Glu)
NM_000760.4(CSF3R):c.2333C>T (p.Ala778Val)
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
NM_000760.4(CSF3R):c.2361T>A (p.Tyr787Ter)
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.2393G>A (p.Gly798Glu)
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.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.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.280C>G (p.His94Asp)
NM_000760.4(CSF3R):c.281A>G (p.His94Arg)
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.304T>C (p.Cys102Arg)
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.35C>G (p.Ala12Gly)
NM_000760.4(CSF3R):c.362-27_362-18del
NM_000760.4(CSF3R):c.381C>A (p.His127Gln) rs1348822018
NM_000760.4(CSF3R):c.407C>T (p.Thr136Ile)
NM_000760.4(CSF3R):c.41T>C (p.Leu14Pro)
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>A (p.Thr169Asn)
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.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.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.844-3C>T
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
NM_000760.4(CSF3R):c.851C>T (p.Pro284Leu)
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.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.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>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.98C>A (p.Ala33Asp)
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
NM_000760.4(CSF3R):c.998C>T (p.Ala333Val)
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.106G>C (p.Glu36Gln)
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.124G>T (p.Gly42Cys)
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.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.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.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.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.379G>T (p.Asp127Tyr)
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.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.622T>A (p.Phe208Ile)
NM_006118.4(HAX1):c.626A>G (p.Lys209Arg)
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.659A>T (p.Asp220Val) rs1684907371
NM_006118.4(HAX1):c.65C>T (p.Pro22Leu)
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.663G>A (p.Gly221=)
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.680G>A (p.Arg227Gln)
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.1221G>A (p.Met407Ile)
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
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.1550C>T (p.Thr517Ile)
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.1582G>A (p.Val528Met)
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
NM_007259.5(VPS45):c.1625G>C (p.Ser542Thr)
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.228G>A (p.Lys76=)
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
NM_007259.5(VPS45):c.251A>G (p.Gln84Arg)
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.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.491C>T (p.Ala164Val)
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.576+6G>A
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>G (p.Ala309Gly)
NM_007259.5(VPS45):c.926C>T (p.Ala309Val) rs782583704
NM_007259.5(VPS45):c.936+5A>G
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.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.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.89+5G>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.127T>C (p.Phe43Leu)
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.182G>C (p.Ser61Thr)
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.19G>A (p.Ala7Thr)
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.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.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>A (p.Glu13Lys)
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.392C>T (p.Ser131Leu)
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.417-10_417-9del
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-8_417-6del
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.538G>A (p.Ala180Thr)
NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)
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.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.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.799T>G (p.Ser267Ala)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
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.863T>C (p.Val288Ala)
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.908C>T (p.Pro303Leu)
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

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