ClinVar Miner

List of variants reported as likely benign 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: 1055
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser) rs35622214 0.00185
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His) rs148104401 0.00158
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_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.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_138387.4(G6PC3):c.468G>A (p.Ala156=) rs141663645 0.00061
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) rs144587192 0.00039
NM_000760.4(CSF3R):c.93C>T (p.Val31=) rs150277708 0.00036
NM_000760.4(CSF3R):c.2211C>T (p.Ser737=) rs376211630 0.00034
NM_000760.4(CSF3R):c.486-14T>G rs201903505 0.00032
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732 0.00032
NM_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_007259.5(VPS45):c.1556A>G (p.Tyr519Cys) rs145193116 0.00021
NM_000760.4(CSF3R):c.855C>T (p.Leu285=) rs150784508 0.00019
NM_006118.4(HAX1):c.557-6T>C rs776550825 0.00018
NM_007259.5(VPS45):c.625G>T (p.Val209Phe) rs201955039 0.00018
NM_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_000760.4(CSF3R):c.1665G>T (p.Gly555=) rs139705992 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_000760.4(CSF3R):c.1509C>T (p.Ile503=) rs142503546 0.00013
NM_000760.4(CSF3R):c.1704C>T (p.Asn568=) rs373727880 0.00012
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_006118.4(HAX1):c.505-14G>C rs200863707 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_138387.4(G6PC3):c.726C>T (p.His242=) rs147246080 0.00010
NM_000760.4(CSF3R):c.2427C>T (p.Asp809=) rs369185814 0.00009
NM_000760.4(CSF3R):c.361+17A>C rs373559200 0.00009
NM_007259.5(VPS45):c.114A>G (p.Val38=) rs1180456081 0.00009
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg) rs371572450 0.00009
NM_007259.5(VPS45):c.1264-14C>G rs587647418 0.00009
NM_138387.4(G6PC3):c.264T>G (p.Gly88=) rs377286452 0.00009
NM_000760.4(CSF3R):c.1185C>T (p.Cys395=) rs184980728 0.00008
NM_000760.4(CSF3R):c.1724-15G>A rs371706347 0.00008
NM_000760.4(CSF3R):c.885C>T (p.Cys295=) rs747273831 0.00008
NM_007259.5(VPS45):c.1395G>A (p.Gln465=) rs782595882 0.00008
NM_007259.5(VPS45):c.1473C>T (p.Gly491=) rs142640111 0.00008
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) rs529935686 0.00008
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=) rs776938018 0.00007
NM_000760.4(CSF3R):c.171G>A (p.Pro57=) rs200847455 0.00006
NM_000760.4(CSF3R):c.1812C>T (p.Ser604=) rs372180979 0.00006
NM_000760.4(CSF3R):c.234G>A (p.Leu78=) rs768137002 0.00006
NM_000760.4(CSF3R):c.60C>T (p.Pro20=) rs773341373 0.00006
NM_007259.5(VPS45):c.1314C>T (p.Asp438=) rs781797197 0.00006
NM_007259.5(VPS45):c.1620G>A (p.Thr540=) rs144696919 0.00006
NM_032492.4(JAGN1):c.189G>A (p.Leu63=) rs748678543 0.00006
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) rs767810900 0.00006
NM_007259.5(VPS45):c.577-5C>T rs1266646389 0.00005
NM_007259.5(VPS45):c.939G>A (p.Ala313=) rs142461153 0.00005
NM_138387.4(G6PC3):c.677+9C>T rs770887459 0.00005
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=) rs1447131096 0.00004
NM_000760.4(CSF3R):c.1263G>A (p.Pro421=) rs768308980 0.00004
NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr) rs748675453 0.00004
NM_000760.4(CSF3R):c.1680C>G (p.Thr560=) rs748313890 0.00004
NM_000760.4(CSF3R):c.1872G>A (p.Ser624=) rs145218850 0.00004
NM_000760.4(CSF3R):c.673+20G>A rs926138175 0.00004
NM_000760.4(CSF3R):c.816G>A (p.Pro272=) rs200668866 0.00004
NM_007259.5(VPS45):c.290-13T>G rs781872625 0.00004
NM_007259.5(VPS45):c.369+8T>A rs201637627 0.00004
NM_007259.5(VPS45):c.390T>C (p.Ile130=) rs782273593 0.00004
NM_007259.5(VPS45):c.577-17T>C rs367947281 0.00004
NM_007259.5(VPS45):c.822+7G>C rs782697127 0.00004
NM_138387.4(G6PC3):c.219-4C>A rs1378892385 0.00004
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) rs145419406 0.00004
NM_138387.4(G6PC3):c.516G>C (p.Val172=) rs763502623 0.00004
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) rs201749454 0.00004
NM_000760.4(CSF3R):c.1044C>T (p.Asp348=) rs766845092 0.00003
NM_000760.4(CSF3R):c.1224T>A (p.Leu408=) rs754281164 0.00003
NM_000760.4(CSF3R):c.1474+15G>C rs769098766 0.00003
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=) rs374780980 0.00003
NM_000760.4(CSF3R):c.456A>G (p.Leu152=) rs373296999 0.00003
NM_000760.4(CSF3R):c.486-17G>A rs377125326 0.00003
NM_000760.4(CSF3R):c.625C>T (p.Leu209=) rs768328227 0.00003
NM_000760.4(CSF3R):c.90T>C (p.Ser30=) rs376890968 0.00003
NM_006118.4(HAX1):c.444T>C (p.Asp148=) rs114295590 0.00003
NM_006118.4(HAX1):c.594G>A (p.Pro198=) rs752302439 0.00003
NM_007259.5(VPS45):c.1272T>C (p.Ser424=) rs1476538589 0.00003
NM_007259.5(VPS45):c.756G>T (p.Val252=) rs375831361 0.00003
NM_007259.5(VPS45):c.780A>G (p.Arg260=) rs1301783999 0.00003
NM_032492.4(JAGN1):c.27G>A (p.Ala9=) rs764805098 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.536-10A>T rs866805011 0.00003
NM_000760.4(CSF3R):c.1683C>T (p.His561=) rs771829515 0.00002
NM_000760.4(CSF3R):c.1947T>C (p.Cys649=) rs1005321266 0.00002
NM_000760.4(CSF3R):c.195G>A (p.Leu65=) rs369091565 0.00002
NM_000760.4(CSF3R):c.361+12C>T rs200681728 0.00002
NM_000760.4(CSF3R):c.48C>T (p.Ile16=) rs766497159 0.00002
NM_000760.4(CSF3R):c.673+16G>A rs938091790 0.00002
NM_000760.4(CSF3R):c.903G>A (p.Thr301=) rs746383447 0.00002
NM_006118.4(HAX1):c.225C>T (p.Phe75=) rs547500941 0.00002
NM_006118.4(HAX1):c.317-4G>T rs368305272 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.423T>C (p.Phe141=) rs200778148 0.00002
NM_006118.4(HAX1):c.429G>T (p.Gly143=) rs764127512 0.00002
NM_006118.4(HAX1):c.505-20T>C rs765259799 0.00002
NM_006118.4(HAX1):c.556+13G>A rs771282580 0.00002
NM_006118.4(HAX1):c.729C>T (p.His243=) rs145975391 0.00002
NM_007259.5(VPS45):c.1105-12A>G rs782626266 0.00002
NM_007259.5(VPS45):c.1359C>A (p.Leu453=) rs782429614 0.00002
NM_007259.5(VPS45):c.1401A>G (p.Gln467=) rs1553802459 0.00002
NM_007259.5(VPS45):c.1428T>C (p.His476=) rs782259938 0.00002
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=) rs150044678 0.00002
NM_007259.5(VPS45):c.1494-7A>G rs1435795274 0.00002
NM_007259.5(VPS45):c.1689A>G (p.Thr563=) rs782289649 0.00002
NM_007259.5(VPS45):c.228+8A>G rs782133423 0.00002
NM_007259.5(VPS45):c.378T>C (p.Tyr126=) rs782457677 0.00002
NM_007259.5(VPS45):c.702C>G (p.Ala234=) rs782301145 0.00002
NM_007259.5(VPS45):c.711C>T (p.His237=) rs782676481 0.00002
NM_007259.5(VPS45):c.96T>G (p.Thr32=) rs182111359 0.00002
NM_032492.4(JAGN1):c.12A>G (p.Arg4=) rs377365266 0.00002
NM_032492.4(JAGN1):c.30C>T (p.Ala10=) rs549030325 0.00002
NM_032492.4(JAGN1):c.432C>T (p.Ala144=) rs766336706 0.00002
NM_032492.4(JAGN1):c.480C>T (p.Ala160=) rs779442557 0.00002
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) rs201225696 0.00002
NM_138387.4(G6PC3):c.1032C>T (p.His344=) rs774174457 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138387.4(G6PC3):c.536-7C>G rs754683713 0.00002
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) rs758478386 0.00002
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=) rs763356452 0.00001
NM_000760.4(CSF3R):c.114G>A (p.Leu38=) rs765406291 0.00001
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=) rs1306508815 0.00001
NM_000760.4(CSF3R):c.1608G>A (p.Lys536=) rs1196522809 0.00001
NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=) rs1650461433 0.00001
NM_000760.4(CSF3R):c.1725C>T (p.Ser575=) rs758984105 0.00001
NM_000760.4(CSF3R):c.1728C>T (p.Ala576=) rs1451236691 0.00001
NM_000760.4(CSF3R):c.1734G>T (p.Leu578=) rs1314251171 0.00001
NM_000760.4(CSF3R):c.180G>A (p.Gln60=) rs1200828641 0.00001
NM_000760.4(CSF3R):c.1926C>G (p.Leu642=) rs771240381 0.00001
NM_000760.4(CSF3R):c.2037G>A (p.Glu679=) rs1397528121 0.00001
NM_000760.4(CSF3R):c.2106T>C (p.Asp702=) rs1650346965 0.00001
NM_000760.4(CSF3R):c.2121G>A (p.Val707=) rs764603715 0.00001
NM_000760.4(CSF3R):c.2157C>T (p.Gly719=) rs768198697 0.00001
NM_000760.4(CSF3R):c.2187C>T (p.Leu729=) rs763256285 0.00001
NM_000760.4(CSF3R):c.2223A>G (p.Gln741=) rs756684252 0.00001
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=) rs372773604 0.00001
NM_000760.4(CSF3R):c.485+19C>T rs1383387694 0.00001
NM_000760.4(CSF3R):c.558C>T (p.Cys186=) rs575622000 0.00001
NM_000760.4(CSF3R):c.64+7del rs750628335 0.00001
NM_000760.4(CSF3R):c.663C>T (p.Pro221=) rs1420508617 0.00001
NM_000760.4(CSF3R):c.78C>T (p.Cys26=) rs767458386 0.00001
NM_006118.4(HAX1):c.12T>C (p.Phe4=) rs1490644075 0.00001
NM_006118.4(HAX1):c.180A>G (p.Glu60=) rs950658160 0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=) rs1684867511 0.00001
NM_006118.4(HAX1):c.270C>T (p.Ser90=) rs754177724 0.00001
NM_006118.4(HAX1):c.316+19G>A rs747989063 0.00001
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.393G>A (p.Lys131=) rs763126649 0.00001
NM_006118.4(HAX1):c.459C>T (p.Ser153=) rs1306497969 0.00001
NM_006118.4(HAX1):c.465A>G (p.Gln155=) rs1684879648 0.00001
NM_006118.4(HAX1):c.504+7A>G rs1684881000 0.00001
NM_006118.4(HAX1):c.504+7dup rs1300694878 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.53+9A>C rs756747610 0.00001
NM_006118.4(HAX1):c.54-4T>A rs908920404 0.00001
NM_006118.4(HAX1):c.54-6T>C rs556100256 0.00001
NM_006118.4(HAX1):c.549G>A (p.Glu183=) rs535226830 0.00001
NM_006118.4(HAX1):c.557-19C>T rs1050683276 0.00001
NM_006118.4(HAX1):c.57C>T (p.His19=) rs941774283 0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637 0.00001
NM_006118.4(HAX1):c.660T>C (p.Asp220=) rs746250096 0.00001
NM_006118.4(HAX1):c.664-10C>T rs369087332 0.00001
NM_006118.4(HAX1):c.755-6C>T rs749368917 0.00001
NM_006118.4(HAX1):c.795T>C (p.Phe265=) rs886038568 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.822T>C (p.Arg274=) rs756399040 0.00001
NM_006118.4(HAX1):c.837G>A (p.Arg279=) rs780915317 0.00001
NM_007259.5(VPS45):c.1002G>C (p.Val334=) rs1655788033 0.00001
NM_007259.5(VPS45):c.1014G>A (p.Leu338=) rs1035463342 0.00001
NM_007259.5(VPS45):c.1023G>A (p.Leu341=) rs781805887 0.00001
NM_007259.5(VPS45):c.1104+10A>G rs1259869305 0.00001
NM_007259.5(VPS45):c.1164G>A (p.Val388=) rs370958835 0.00001
NM_007259.5(VPS45):c.1179A>G (p.Leu393=) rs1656349407 0.00001
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His) rs782431885 0.00001
NM_007259.5(VPS45):c.1260A>G (p.Arg420=) rs1656355917 0.00001
NM_007259.5(VPS45):c.1326C>T (p.Pro442=) rs371945894 0.00001
NM_007259.5(VPS45):c.1335T>C (p.Ala445=) rs1330742139 0.00001
NM_007259.5(VPS45):c.1338G>A (p.Val446=) rs1656378115 0.00001
NM_007259.5(VPS45):c.1344C>T (p.Ile448=) rs933924434 0.00001
NM_007259.5(VPS45):c.1372-9C>T rs201173713 0.00001
NM_007259.5(VPS45):c.1372-9_1372-8del rs782327109 0.00001
NM_007259.5(VPS45):c.1458A>G (p.Leu486=) rs782320365 0.00001
NM_007259.5(VPS45):c.1625+19T>G rs1003447515 0.00001
NM_007259.5(VPS45):c.201G>A (p.Lys67=) rs782546296 0.00001
NM_007259.5(VPS45):c.210T>C (p.Cys70=) rs782670487 0.00001
NM_007259.5(VPS45):c.229-19C>T rs1400300011 0.00001
NM_007259.5(VPS45):c.234T>C (p.Asn78=) rs782045429 0.00001
NM_007259.5(VPS45):c.290-11_290-10del rs1389688490 0.00001
NM_007259.5(VPS45):c.345A>G (p.Glu115=) rs1655380604 0.00001
NM_007259.5(VPS45):c.439-14T>G rs781842590 0.00001
NM_007259.5(VPS45):c.48G>A (p.Glu16=) rs1250860828 0.00001
NM_007259.5(VPS45):c.624G>A (p.Glu208=) rs782290162 0.00001
NM_007259.5(VPS45):c.679C>T (p.Leu227=) rs1655478636 0.00001
NM_007259.5(VPS45):c.759G>A (p.Pro253=) rs782131359 0.00001
NM_007259.5(VPS45):c.765C>T (p.Ile255=) rs1329207920 0.00001
NM_007259.5(VPS45):c.78C>T (p.Leu26=) rs1233278099 0.00001
NM_007259.5(VPS45):c.823-8T>C rs1019641850 0.00001
NM_007259.5(VPS45):c.906G>A (p.Gln302=) rs781829979 0.00001
NM_007259.5(VPS45):c.915A>G (p.Leu305=) rs1385543985 0.00001
NM_007259.5(VPS45):c.930C>T (p.Asp310=) rs145369624 0.00001
NM_007259.5(VPS45):c.937-7A>G rs1177905127 0.00001
NM_007259.5(VPS45):c.94-5T>C rs1553796313 0.00001
NM_007259.5(VPS45):c.957A>C (p.Pro319=) rs587769473 0.00001
NM_032492.4(JAGN1):c.117G>A (p.Lys39=) rs763900045 0.00001
NM_032492.4(JAGN1):c.123C>A (p.Ile41=) rs140024249 0.00001
NM_032492.4(JAGN1):c.168C>T (p.Ser56=) rs1265469155 0.00001
NM_032492.4(JAGN1):c.207C>T (p.Ala69=) rs759083520 0.00001
NM_032492.4(JAGN1):c.330T>C (p.Phe110=) rs2082574589 0.00001
NM_032492.4(JAGN1):c.39C>T (p.Asp13=) rs751452713 0.00001
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys) rs200485958 0.00001
NM_032492.4(JAGN1):c.90-9G>C rs762370289 0.00001
NM_138387.4(G6PC3):c.132C>T (p.Pro44=) rs200427598 0.00001
NM_138387.4(G6PC3):c.21G>T (p.Ala7=) rs1322272335 0.00001
NM_138387.4(G6PC3):c.399G>A (p.Val133=) rs1191355690 0.00001
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) rs778761991 0.00001
NM_138387.4(G6PC3):c.536-12C>A rs766176177 0.00001
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) rs2049967702 0.00001
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) rs1290235695 0.00001
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) rs766506200 0.00001
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) rs756698645 0.00001
NM_138387.4(G6PC3):c.677+10G>A rs776838775 0.00001
NM_138387.4(G6PC3):c.678-14C>A rs1418045272 0.00001
NM_138387.4(G6PC3):c.879G>A (p.Leu293=) rs780718603 0.00001
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) rs142944376 0.00001
NM_138387.4(G6PC3):c.906C>T (p.His302=) rs770799037 0.00001
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) rs752964083 0.00001
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
NM_000760.4(CSF3R):c.105C>T (p.Ile35=) rs3917954
NM_000760.4(CSF3R):c.1071+13G>A rs1470411346
NM_000760.4(CSF3R):c.1071+8C>T
NM_000760.4(CSF3R):c.1072-14C>G
NM_000760.4(CSF3R):c.1072-18T>C
NM_000760.4(CSF3R):c.1072-8C>A rs2124119433
NM_000760.4(CSF3R):c.1072-9G>A rs1650746294
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
NM_000760.4(CSF3R):c.1176G>A (p.Glu392=)
NM_000760.4(CSF3R):c.1197G>A (p.Leu399=) rs898927823
NM_000760.4(CSF3R):c.1212G>A (p.Gln404=) rs559429248
NM_000760.4(CSF3R):c.1245G>C (p.Gly415=)
NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu)
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
NM_000760.4(CSF3R):c.1285+17G>T
NM_000760.4(CSF3R):c.1286-4C>T rs1570583247
NM_000760.4(CSF3R):c.1308T>C (p.His436=)
NM_000760.4(CSF3R):c.1317C>T (p.Ala439=)
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=) rs2124111294
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=) rs367641463
NM_000760.4(CSF3R):c.1474+16A>G
NM_000760.4(CSF3R):c.1474+19G>T rs747544404
NM_000760.4(CSF3R):c.1506C>T (p.Ile502=)
NM_000760.4(CSF3R):c.1512G>A (p.Val504=) rs1650544652
NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)
NM_000760.4(CSF3R):c.1530C>T (p.Asp510=)
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
NM_000760.4(CSF3R):c.1576+11T>C
NM_000760.4(CSF3R):c.1577-20G>A
NM_000760.4(CSF3R):c.1587T>C (p.His529=) rs778419529
NM_000760.4(CSF3R):c.1605A>G (p.Leu535=)
NM_000760.4(CSF3R):c.168C>T (p.Asp56=)
NM_000760.4(CSF3R):c.1723+10T>C
NM_000760.4(CSF3R):c.1723+13T>G
NM_000760.4(CSF3R):c.1723+19C>T
NM_000760.4(CSF3R):c.1724-10C>A
NM_000760.4(CSF3R):c.1724-7C>T
NM_000760.4(CSF3R):c.1724-9C>T
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
NM_000760.4(CSF3R):c.1773G>A (p.Glu591=) rs2124102034
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
NM_000760.4(CSF3R):c.1815G>A (p.Gln605=)
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
NM_000760.4(CSF3R):c.1864+17G>A
NM_000760.4(CSF3R):c.1865-16C>A
NM_000760.4(CSF3R):c.1865-19G>C
NM_000760.4(CSF3R):c.1865-20C>T rs375651066
NM_000760.4(CSF3R):c.1865-4G>A
NM_000760.4(CSF3R):c.1869G>T (p.Gly623=)
NM_000760.4(CSF3R):c.1899C>T (p.Phe633=)
NM_000760.4(CSF3R):c.1911G>A (p.Leu637=)
NM_000760.4(CSF3R):c.1914G>A (p.Leu638=)
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.1959-13C>A
NM_000760.4(CSF3R):c.1959-6C>T
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
NM_000760.4(CSF3R):c.2040+13G>A
NM_000760.4(CSF3R):c.2040+15G>A
NM_000760.4(CSF3R):c.2040+20del
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
NM_000760.4(CSF3R):c.2136T>C (p.His712=)
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=) rs538096821
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
NM_000760.4(CSF3R):c.2266C>T (p.Leu756=)
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=) rs1481867581
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=) rs138866886
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=) rs946096806
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=) rs1557585422
NM_000760.4(CSF3R):c.2403A>G (p.Val801=) rs2124095601
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=) rs1650313816
NM_000760.4(CSF3R):c.270C>T (p.Pro90=)
NM_000760.4(CSF3R):c.273C>T (p.His91=)
NM_000760.4(CSF3R):c.285T>C (p.Thr95=)
NM_000760.4(CSF3R):c.324C>T (p.Ser108=) rs2124136036
NM_000760.4(CSF3R):c.327G>A (p.Leu109=)
NM_000760.4(CSF3R):c.333C>T (p.Ile111=)
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
NM_000760.4(CSF3R):c.361+15C>T
NM_000760.4(CSF3R):c.366T>G (p.Pro122=) rs201313973
NM_000760.4(CSF3R):c.396C>G (p.Leu132=)
NM_000760.4(CSF3R):c.420C>T (p.Leu140=) rs1650945872
NM_000760.4(CSF3R):c.435G>A (p.Glu145=)
NM_000760.4(CSF3R):c.485+13C>T rs2124129153
NM_000760.4(CSF3R):c.485+18C>T rs1421627142
NM_000760.4(CSF3R):c.485+8G>A
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
NM_000760.4(CSF3R):c.57C>T (p.Leu19=)
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
NM_000760.4(CSF3R):c.618G>A (p.Glu206=) rs113122356
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
NM_000760.4(CSF3R):c.65-6C>A
NM_000760.4(CSF3R):c.65-8C>T rs1322634596
NM_000760.4(CSF3R):c.673+12A>G
NM_000760.4(CSF3R):c.673+15G>A
NM_000760.4(CSF3R):c.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.723G>A (p.Ala241=) rs202080839
NM_000760.4(CSF3R):c.762G>A (p.Glu254=)
NM_000760.4(CSF3R):c.777C>A (p.Gly259=)
NM_000760.4(CSF3R):c.841C>T (p.Leu281=)
NM_000760.4(CSF3R):c.843+19T>A
NM_000760.4(CSF3R):c.843+19T>C
NM_000760.4(CSF3R):c.843+9G>A
NM_000760.4(CSF3R):c.844-8C>G rs200218331
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
NM_000760.4(CSF3R):c.918G>A (p.Gln306=)
NM_000760.4(CSF3R):c.927C>T (p.Cys309=) rs1570588349
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
NM_000760.4(CSF3R):c.997+13T>A
NM_000760.4(CSF3R):c.997+13T>C
NM_000760.4(CSF3R):c.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.99C>A (p.Ala33=) rs1557597747
NM_006118.4(HAX1):c.105_107del (p.Glu40del) rs752101273
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.108A>G (p.Glu36=) rs11556342
NM_006118.4(HAX1):c.123G>C (p.Gly41=) rs1057521590
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
NM_006118.4(HAX1):c.162T>C (p.Pro54=) rs1684862702
NM_006118.4(HAX1):c.168C>T (p.His56=) rs756371972
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
NM_006118.4(HAX1):c.174T>A (p.Pro58=) rs757349543
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.216G>C (p.Gly72=)
NM_006118.4(HAX1):c.21C>T (p.Phe7=) rs2149138533
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
NM_006118.4(HAX1):c.246T>C (p.Asp82=) rs2149139825
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
NM_006118.4(HAX1):c.276C>T (p.Phe92=) rs1394401898
NM_006118.4(HAX1):c.279C>T (p.Ser93=) rs1684868690
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
NM_006118.4(HAX1):c.288G>A (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.288G>C (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.291C>T (p.Ala97=)
NM_006118.4(HAX1):c.30T>C (p.Phe10=) rs2149138547
NM_006118.4(HAX1):c.316+10T>G rs2149139872
NM_006118.4(HAX1):c.316+12dup rs1278748171
NM_006118.4(HAX1):c.316+17A>G
NM_006118.4(HAX1):c.316+17_316+28del rs1484850337
NM_006118.4(HAX1):c.317-11C>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.363G>A (p.Glu121=) rs2149139958
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
NM_006118.4(HAX1):c.396T>C (p.Tyr132=) rs2149139988
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
NM_006118.4(HAX1):c.414C>T (p.Pro138=) rs1572018842
NM_006118.4(HAX1):c.420C>A (p.Ile140=) rs2149139999
NM_006118.4(HAX1):c.426G>A (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.426G>C (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
NM_006118.4(HAX1):c.456A>G (p.Glu152=) rs2149140027
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
NM_006118.4(HAX1):c.462C>A (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.462C>G (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.471A>G (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.471A>T (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.486C>T (p.Ser162=) rs2149140052
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
NM_006118.4(HAX1):c.501T>C (p.His167=) rs2149140060
NM_006118.4(HAX1):c.504+10C>A
NM_006118.4(HAX1):c.504+10C>T
NM_006118.4(HAX1):c.504+12A>C
NM_006118.4(HAX1):c.504+12A>G
NM_006118.4(HAX1):c.504+12A>T
NM_006118.4(HAX1):c.504+15T>C
NM_006118.4(HAX1):c.504+19C>T
NM_006118.4(HAX1):c.504+9C>G rs2149140073
NM_006118.4(HAX1):c.505-13G>T
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
NM_006118.4(HAX1):c.516A>G (p.Val172=) rs1684900369
NM_006118.4(HAX1):c.528C>T (p.Asp176=)
NM_006118.4(HAX1):c.53+13C>T rs759011018
NM_006118.4(HAX1):c.53+16G>A
NM_006118.4(HAX1):c.53+19C>T
NM_006118.4(HAX1):c.53+3GA[3]
NM_006118.4(HAX1):c.53+6_53+7insT
NM_006118.4(HAX1):c.53+7G>A rs2149138580
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
NM_006118.4(HAX1):c.54-12C>T
NM_006118.4(HAX1):c.54-14G>A
NM_006118.4(HAX1):c.54-15T>G
NM_006118.4(HAX1):c.54-20C>G
NM_006118.4(HAX1):c.54-4T>G rs908920404
NM_006118.4(HAX1):c.54-5C>T rs1357333154
NM_006118.4(HAX1):c.54-8A>G rs2149139463
NM_006118.4(HAX1):c.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+9G>A
NM_006118.4(HAX1):c.557-11T>C
NM_006118.4(HAX1):c.557-12C>G rs1553289863
NM_006118.4(HAX1):c.557-16C>T
NM_006118.4(HAX1):c.557-18A>G
NM_006118.4(HAX1):c.557-5T>C
NM_006118.4(HAX1):c.557-7C>T
NM_006118.4(HAX1):c.557-8T>C rs1684904629
NM_006118.4(HAX1):c.557-9C>A rs1684904587
NM_006118.4(HAX1):c.567C>T (p.Ser189=) rs2149140587
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
NM_006118.4(HAX1):c.606C>G (p.Pro202=) rs1684905836
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
NM_006118.4(HAX1):c.612C>G (p.Pro204=) rs755648319
NM_006118.4(HAX1):c.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.663+14_663+17del rs2149140652
NM_006118.4(HAX1):c.663+20dup
NM_006118.4(HAX1):c.664-13C>T
NM_006118.4(HAX1):c.664-4G>A
NM_006118.4(HAX1):c.664-5T>G
NM_006118.4(HAX1):c.664-6T>C rs2149140688
NM_006118.4(HAX1):c.664-8C>G
NM_006118.4(HAX1):c.664-8C>T
NM_006118.4(HAX1):c.666A>T (p.Ile222=) rs2149140695
NM_006118.4(HAX1):c.678C>T (p.Arg226=) rs1684911540
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
NM_006118.4(HAX1):c.684T>G (p.Thr228=) rs2149140709
NM_006118.4(HAX1):c.690G>A (p.Val230=)
NM_006118.4(HAX1):c.699G>A (p.Glu233=) rs1398388092
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
NM_006118.4(HAX1):c.702C>T (p.Gly234=) rs2149140719
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.717A>G (p.Thr239=) rs911542597
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
NM_006118.4(HAX1):c.754+12G>A rs2149140759
NM_006118.4(HAX1):c.754+16A>G rs370265383
NM_006118.4(HAX1):c.754+16_754+17del
NM_006118.4(HAX1):c.754+17A>G rs2149140768
NM_006118.4(HAX1):c.754+18G>T
NM_006118.4(HAX1):c.754+19G>C
NM_006118.4(HAX1):c.754+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.780C>A (p.Ala260=) rs2149140833
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
NM_006118.4(HAX1):c.802C>T (p.Leu268=) rs2149140852
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
NM_006118.4(HAX1):c.837G>C (p.Arg279=)
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
NM_006118.4(HAX1):c.96T>C (p.Asp32=) rs2149139550
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
NM_006118.4(HAX1):c.9C>G (p.Leu3=) rs2149138508
NM_006118.4(HAX1):c.9C>T (p.Leu3=) rs2149138508
NM_007259.5(VPS45):c.1005T>A (p.Val335=)
NM_007259.5(VPS45):c.1005T>C (p.Val335=) rs2101538747
NM_007259.5(VPS45):c.1011A>G (p.Glu337=) rs781878634
NM_007259.5(VPS45):c.1021T>C (p.Leu341=)
NM_007259.5(VPS45):c.1041G>A (p.Leu347=) rs2101538873
NM_007259.5(VPS45):c.1042C>T (p.Leu348=) rs2101538885
NM_007259.5(VPS45):c.1074C>T (p.Ala358=)
NM_007259.5(VPS45):c.1092T>C (p.Ser364=)
NM_007259.5(VPS45):c.1098T>C (p.Ala366=)
NM_007259.5(VPS45):c.1104+14G>A
NM_007259.5(VPS45):c.1104+17G>A
NM_007259.5(VPS45):c.1104+19G>A
NM_007259.5(VPS45):c.1104+7C>T rs1571834548
NM_007259.5(VPS45):c.1104+8C>T
NM_007259.5(VPS45):c.1105-10C>T rs2101565432
NM_007259.5(VPS45):c.1105-11T>C
NM_007259.5(VPS45):c.1105-12A>C
NM_007259.5(VPS45):c.1105-12_1105-9del
NM_007259.5(VPS45):c.1105-14C>G
NM_007259.5(VPS45):c.1105-15del
NM_007259.5(VPS45):c.1105-5T>C rs2101565451
NM_007259.5(VPS45):c.1116G>A (p.Arg372=) rs1302292445
NM_007259.5(VPS45):c.1122G>T (p.Leu374=)
NM_007259.5(VPS45):c.1134A>G (p.Lys378=)
NM_007259.5(VPS45):c.1152T>A (p.Ala384=)
NM_007259.5(VPS45):c.1152T>C (p.Ala384=)
NM_007259.5(VPS45):c.1155C>T (p.Ala385=) rs1553801991
NM_007259.5(VPS45):c.1158C>G (p.Arg386=) rs1571849016
NM_007259.5(VPS45):c.1170T>C (p.Leu390=) rs2101565709
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=)
NM_007259.5(VPS45):c.1176T>C (p.Ala392=)
NM_007259.5(VPS45):c.1194C>T (p.His398=)
NM_007259.5(VPS45):c.1200C>T (p.Ser400=)
NM_007259.5(VPS45):c.1203T>C (p.Asn401=)
NM_007259.5(VPS45):c.1212A>G (p.Pro404=) rs2101565926
NM_007259.5(VPS45):c.1218A>T (p.Leu406=)
NM_007259.5(VPS45):c.1233G>A (p.Arg411=) rs2101565990
NM_007259.5(VPS45):c.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.1269G>A (p.Val423=)
NM_007259.5(VPS45):c.1299A>C (p.Arg433=) rs2101566674
NM_007259.5(VPS45):c.133C>T (p.Leu45=) rs2101476530
NM_007259.5(VPS45):c.1341T>A (p.Ala447=) rs2101566942
NM_007259.5(VPS45):c.1347C>A (p.Thr449=) rs2101566957
NM_007259.5(VPS45):c.1347C>T (p.Thr449=)
NM_007259.5(VPS45):c.1353A>G (p.Gln451=)
NM_007259.5(VPS45):c.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.1372-10C>T
NM_007259.5(VPS45):c.1372-20A>G
NM_007259.5(VPS45):c.1372-4T>C
NM_007259.5(VPS45):c.1372-6T>C
NM_007259.5(VPS45):c.1372-7G>C rs2101570024
NM_007259.5(VPS45):c.1372-8del
NM_007259.5(VPS45):c.1372-9C>G
NM_007259.5(VPS45):c.1374A>G (p.Gly458=)
NM_007259.5(VPS45):c.1386A>G (p.Val462=) rs959109809
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)
NM_007259.5(VPS45):c.1392A>T (p.Thr464=)
NM_007259.5(VPS45):c.1410A>G (p.Leu470=) rs2101570132
NM_007259.5(VPS45):c.1419C>G (p.Thr473=)
NM_007259.5(VPS45):c.1419C>T (p.Thr473=)
NM_007259.5(VPS45):c.1443G>A (p.Arg481=)
NM_007259.5(VPS45):c.1455C>T (p.Asn485=) rs1656463069
NM_007259.5(VPS45):c.1458A>C (p.Leu486=)
NM_007259.5(VPS45):c.1476C>A (p.Pro492=)
NM_007259.5(VPS45):c.1476C>G (p.Pro492=) rs1253982752
NM_007259.5(VPS45):c.1479C>T (p.Ser493=) rs2101570323
NM_007259.5(VPS45):c.1482A>G (p.Thr494=) rs782409875
NM_007259.5(VPS45):c.1491C>T (p.Asp497=) rs782007834
NM_007259.5(VPS45):c.1493+12A>G rs587746538
NM_007259.5(VPS45):c.1493+14G>T
NM_007259.5(VPS45):c.1493+18T>C
NM_007259.5(VPS45):c.1494-14C>A
NM_007259.5(VPS45):c.1494-14C>T
NM_007259.5(VPS45):c.1494-15del
NM_007259.5(VPS45):c.1494-17A>T
NM_007259.5(VPS45):c.1494-5T>C rs781920624
NM_007259.5(VPS45):c.1494-6T>C
NM_007259.5(VPS45):c.1500G>A (p.Gln500=)
NM_007259.5(VPS45):c.1509T>A (p.Ile503=) rs2101608863
NM_007259.5(VPS45):c.1512G>A (p.Val504=)
NM_007259.5(VPS45):c.1515T>C (p.Phe505=)
NM_007259.5(VPS45):c.1518A>G (p.Val506=)
NM_007259.5(VPS45):c.1518A>T (p.Val506=)
NM_007259.5(VPS45):c.1530C>T (p.Ala510=)
NM_007259.5(VPS45):c.1533C>T (p.Thr511=)
NM_007259.5(VPS45):c.1551A>C (p.Thr517=)
NM_007259.5(VPS45):c.1560C>T (p.Asn520=) rs2101608985
NM_007259.5(VPS45):c.1572C>T (p.Thr524=) rs782816408
NM_007259.5(VPS45):c.1584G>A (p.Val528=) rs2101609056
NM_007259.5(VPS45):c.1594C>T (p.Leu532=)
NM_007259.5(VPS45):c.1596G>A (p.Leu532=)
NM_007259.5(VPS45):c.159A>G (p.Glu53=)
NM_007259.5(VPS45):c.1605C>A (p.Thr535=) rs782478918
NM_007259.5(VPS45):c.1605C>G (p.Thr535=)
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.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.1689A>T (p.Thr563=) rs782289649
NM_007259.5(VPS45):c.168T>C (p.Asp56=)
NM_007259.5(VPS45):c.1701G>C (p.Ala567=)
NM_007259.5(VPS45):c.1701G>T (p.Ala567=) rs377365764
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=)
NM_007259.5(VPS45):c.1712G>A (p.Ter571=) rs782075318
NM_007259.5(VPS45):c.178C>A (p.Arg60=)
NM_007259.5(VPS45):c.186C>A (p.Ile62=) rs1553796358
NM_007259.5(VPS45):c.204A>G (p.Ala68=) rs1553796373
NM_007259.5(VPS45):c.219A>C (p.Arg73=)
NM_007259.5(VPS45):c.228+12dup
NM_007259.5(VPS45):c.228+17G>A
NM_007259.5(VPS45):c.228+19_228+22dup
NM_007259.5(VPS45):c.228+7C>A
NM_007259.5(VPS45):c.228+7C>T rs782018422
NM_007259.5(VPS45):c.228+9T>C rs1654867997
NM_007259.5(VPS45):c.229-10C>A rs781990380
NM_007259.5(VPS45):c.229-6T>C rs2101495459
NM_007259.5(VPS45):c.246T>A (p.Ile82=)
NM_007259.5(VPS45):c.246T>C (p.Ile82=) rs62622370
NM_007259.5(VPS45):c.258C>G (p.Leu86=)
NM_007259.5(VPS45):c.259C>A (p.Arg87=) rs782463106
NM_007259.5(VPS45):c.270A>G (p.Lys90=)
NM_007259.5(VPS45):c.276T>C (p.Thr92=) rs2101495807
NM_007259.5(VPS45):c.27G>A (p.Gln9=) rs1654813865
NM_007259.5(VPS45):c.285C>T (p.Phe95=) rs140400945
NM_007259.5(VPS45):c.289+15T>G
NM_007259.5(VPS45):c.289+16C>T
NM_007259.5(VPS45):c.289+19T>C
NM_007259.5(VPS45):c.290-12C>G
NM_007259.5(VPS45):c.290-12C>T
NM_007259.5(VPS45):c.290-18C>G
NM_007259.5(VPS45):c.290-18C>T
NM_007259.5(VPS45):c.290-19C>T
NM_007259.5(VPS45):c.290-20C>A
NM_007259.5(VPS45):c.294C>T (p.Phe98=)
NM_007259.5(VPS45):c.297T>C (p.Ser99=)
NM_007259.5(VPS45):c.300T>C (p.Asn100=)
NM_007259.5(VPS45):c.303G>T (p.Val101=)
NM_007259.5(VPS45):c.321G>A (p.Val107=)
NM_007259.5(VPS45):c.324G>A (p.Lys108=) rs2101515532
NM_007259.5(VPS45):c.327A>G (p.Ser109=)
NM_007259.5(VPS45):c.328T>C (p.Leu110=) rs2101515546
NM_007259.5(VPS45):c.336A>G (p.Glu112=) rs1571822136
NM_007259.5(VPS45):c.33T>C (p.Ile11=)
NM_007259.5(VPS45):c.348G>A (p.Gln116=)
NM_007259.5(VPS45):c.357G>A (p.Val119=) rs2101515731
NM_007259.5(VPS45):c.363G>A (p.Glu121=)
NM_007259.5(VPS45):c.369+10T>C
NM_007259.5(VPS45):c.369+20A>G
NM_007259.5(VPS45):c.369+7A>G rs2101515804
NM_007259.5(VPS45):c.369+9A>G
NM_007259.5(VPS45):c.369+9_369+10del rs2101515817
NM_007259.5(VPS45):c.370-15G>A
NM_007259.5(VPS45):c.370-18T>C
NM_007259.5(VPS45):c.370-9T>C rs2101518189
NM_007259.5(VPS45):c.372A>G (p.Glu124=) rs2101518267
NM_007259.5(VPS45):c.399C>T (p.Asn133=) rs2101518426
NM_007259.5(VPS45):c.402A>G (p.Pro134=)
NM_007259.5(VPS45):c.405T>C (p.His135=)
NM_007259.5(VPS45):c.406T>C (p.Leu136=) rs2101518468
NM_007259.5(VPS45):c.414C>T (p.Ser138=)
NM_007259.5(VPS45):c.429T>C (p.Gly143=)
NM_007259.5(VPS45):c.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.439-6A>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.447T>C (p.Asn149=) rs1553798264
NM_007259.5(VPS45):c.456A>G (p.Pro152=) rs2101519305
NM_007259.5(VPS45):c.465A>G (p.Leu155=) rs2101519368
NM_007259.5(VPS45):c.468T>C (p.Ser156=)
NM_007259.5(VPS45):c.468T>G (p.Ser156=) rs2101519395
NM_007259.5(VPS45):c.474A>T (p.Thr158=) rs2101519449
NM_007259.5(VPS45):c.489A>G (p.Thr163=)
NM_007259.5(VPS45):c.513G>A (p.Lys171=)
NM_007259.5(VPS45):c.516T>C (p.Cys172=)
NM_007259.5(VPS45):c.519C>T (p.Pro173=)
NM_007259.5(VPS45):c.525T>A (p.Ile175=)
NM_007259.5(VPS45):c.528T>C (p.Arg176=)
NM_007259.5(VPS45):c.531T>C (p.Tyr177=)
NM_007259.5(VPS45):c.537C>G (p.Leu179=)
NM_007259.5(VPS45):c.537C>T (p.Leu179=) rs782397315
NM_007259.5(VPS45):c.540A>T (p.Ser180=)
NM_007259.5(VPS45):c.543A>G (p.Ser181=) rs2101519854
NM_007259.5(VPS45):c.564A>T (p.Ala188=)
NM_007259.5(VPS45):c.573T>A (p.Val191=)
NM_007259.5(VPS45):c.576+12C>T
NM_007259.5(VPS45):c.576+15A>G
NM_007259.5(VPS45):c.576+18C>T
NM_007259.5(VPS45):c.576+20T>C
NM_007259.5(VPS45):c.576+7C>T
NM_007259.5(VPS45):c.576+8A>G rs2101520081
NM_007259.5(VPS45):c.577-13C>G
NM_007259.5(VPS45):c.577-13C>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.591A>G (p.Lys197=)
NM_007259.5(VPS45):c.597T>C (p.Tyr199=) rs781964920
NM_007259.5(VPS45):c.600A>G (p.Glu200=)
NM_007259.5(VPS45):c.603G>A (p.Leu201=)
NM_007259.5(VPS45):c.609A>G (p.Glu203=)
NM_007259.5(VPS45):c.615T>C (p.Arg205=) rs2101521872
NM_007259.5(VPS45):c.621A>C (p.Thr207=) rs1655474952
NM_007259.5(VPS45):c.634T>C (p.Leu212=)
NM_007259.5(VPS45):c.645T>A (p.Ile215=) rs2101522081
NM_007259.5(VPS45):c.654C>G (p.Arg218=)
NM_007259.5(VPS45):c.663T>C (p.Asp221=) rs2101522140
NM_007259.5(VPS45):c.666C>A (p.Ala222=)
NM_007259.5(VPS45):c.675A>G (p.Pro225=) rs1553798458
NM_007259.5(VPS45):c.684C>T (p.Asn228=) rs937860591
NM_007259.5(VPS45):c.687+19G>T
NM_007259.5(VPS45):c.687+20C>A
NM_007259.5(VPS45):c.687+9C>T
NM_007259.5(VPS45):c.688-10C>T
NM_007259.5(VPS45):c.688-16A>G
NM_007259.5(VPS45):c.688-18T>C
NM_007259.5(VPS45):c.696T>C (p.Tyr232=)
NM_007259.5(VPS45):c.6C>T (p.Asn2=) rs1571803153
NM_007259.5(VPS45):c.702C>T (p.Ala234=) rs782301145
NM_007259.5(VPS45):c.708C>G (p.Val236=)
NM_007259.5(VPS45):c.708C>T (p.Val236=)
NM_007259.5(VPS45):c.714A>G (p.Glu238=)
NM_007259.5(VPS45):c.717A>G (p.Leu239=) rs782635202
NM_007259.5(VPS45):c.720A>G (p.Leu240=)
NM_007259.5(VPS45):c.72A>G (p.Val24=) rs2101472739
NM_007259.5(VPS45):c.747T>G (p.Leu249=) rs2101534085
NM_007259.5(VPS45):c.750C>T (p.Ser250=) rs1571831530
NM_007259.5(VPS45):c.783A>G (p.Glu261=) rs1655704399
NM_007259.5(VPS45):c.786G>A (p.Val262=) rs2101534304
NM_007259.5(VPS45):c.790C>T (p.Leu264=)
NM_007259.5(VPS45):c.816T>C (p.Tyr272=) rs782759963
NM_007259.5(VPS45):c.822+14A>T
NM_007259.5(VPS45):c.822+16T>G
NM_007259.5(VPS45):c.822+9T>A rs781898521
NM_007259.5(VPS45):c.822+9T>C
NM_007259.5(VPS45):c.823-11C>T rs1655733894
NM_007259.5(VPS45):c.823-12T>C
NM_007259.5(VPS45):c.823-13T>C
NM_007259.5(VPS45):c.823-20T>C
NM_007259.5(VPS45):c.823-5C>T
NM_007259.5(VPS45):c.823-7T>G rs2101535746
NM_007259.5(VPS45):c.832C>T (p.Leu278=)
NM_007259.5(VPS45):c.852T>A (p.Gly284=)
NM_007259.5(VPS45):c.852T>C (p.Gly284=) rs2101535822
NM_007259.5(VPS45):c.87A>G (p.Lys29=)
NM_007259.5(VPS45):c.888G>A (p.Lys296=) rs1315600520
NM_007259.5(VPS45):c.921A>C (p.Ser307=) rs2101536025
NM_007259.5(VPS45):c.93+10C>G
NM_007259.5(VPS45):c.93+13_93+14dup
NM_007259.5(VPS45):c.93+14T>C
NM_007259.5(VPS45):c.93+16C>T
NM_007259.5(VPS45):c.93+17T>G
NM_007259.5(VPS45):c.93+18C>A
NM_007259.5(VPS45):c.93+19A>T rs2101473009
NM_007259.5(VPS45):c.936+11C>G
NM_007259.5(VPS45):c.936+11C>T
NM_007259.5(VPS45):c.936+12A>G
NM_007259.5(VPS45):c.936+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+9A>C
NM_007259.5(VPS45):c.937-10C>A rs587634693
NM_007259.5(VPS45):c.937-12T>A
NM_007259.5(VPS45):c.937-8C>T rs2101538592
NM_007259.5(VPS45):c.94-16T>C
NM_007259.5(VPS45):c.94-18A>T
NM_007259.5(VPS45):c.942T>C (p.Phe314=)
NM_007259.5(VPS45):c.948G>A (p.Glu316=)
NM_007259.5(VPS45):c.957A>G (p.Pro319=)
NM_007259.5(VPS45):c.96T>C (p.Thr32=)
NM_007259.5(VPS45):c.993T>C (p.His331=)
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
NM_032492.4(JAGN1):c.105T>C (p.Tyr35=)
NM_032492.4(JAGN1):c.120G>A (p.Leu40=) rs2082572609
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
NM_032492.4(JAGN1):c.138C>T (p.Val46=) rs528473640
NM_032492.4(JAGN1):c.159T>C (p.Ala53=) rs201196372
NM_032492.4(JAGN1):c.186C>G (p.Leu62=) rs776988033
NM_032492.4(JAGN1):c.228C>T (p.Tyr76=)
NM_032492.4(JAGN1):c.231G>A (p.Pro77=)
NM_032492.4(JAGN1):c.264C>T (p.Gly88=)
NM_032492.4(JAGN1):c.270C>G (p.Leu90=)
NM_032492.4(JAGN1):c.279C>T (p.Pro93=) rs1444280254
NM_032492.4(JAGN1):c.327C>G (p.Leu109=)
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
NM_032492.4(JAGN1):c.438C>T (p.Ser146=)
NM_032492.4(JAGN1):c.495C>T (p.Tyr165=)
NM_032492.4(JAGN1):c.525C>G (p.Thr175=)
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.78C>T (p.His26=)
NM_032492.4(JAGN1):c.89+15G>T
NM_032492.4(JAGN1):c.89+20G>T
NM_032492.4(JAGN1):c.90-13C>G
NM_032492.4(JAGN1):c.90-16C>T
NM_032492.4(JAGN1):c.90-18C>G rs371744656
NM_032492.4(JAGN1):c.90-4A>G
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.108G>A (p.Lys36=)
NM_138387.4(G6PC3):c.118C>T (p.Leu40=)
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)
NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
NM_138387.4(G6PC3):c.138C>T (p.Ala46=)
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)
NM_138387.4(G6PC3):c.147C>T (p.Ala49=)
NM_138387.4(G6PC3):c.153C>G (p.Arg51=) rs761215881
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)
NM_138387.4(G6PC3):c.171G>A (p.Val57=)
NM_138387.4(G6PC3):c.171G>T (p.Val57=) rs759787635
NM_138387.4(G6PC3):c.192C>T (p.Thr64=) rs780837377
NM_138387.4(G6PC3):c.195G>A (p.Glu65=)
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)
NM_138387.4(G6PC3):c.213C>T (p.Phe71=) rs1392954032
NM_138387.4(G6PC3):c.218+14G>C
NM_138387.4(G6PC3):c.218+16C>T
NM_138387.4(G6PC3):c.218+17del
NM_138387.4(G6PC3):c.218+18T>C
NM_138387.4(G6PC3):c.218+20C>T
NM_138387.4(G6PC3):c.218+8A>G
NM_138387.4(G6PC3):c.218+9G>C
NM_138387.4(G6PC3):c.219-12G>A
NM_138387.4(G6PC3):c.219-12G>T
NM_138387.4(G6PC3):c.219-18G>T
NM_138387.4(G6PC3):c.219-18dup
NM_138387.4(G6PC3):c.234C>T (p.Asp78=)
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) rs960728758
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
NM_138387.4(G6PC3):c.261T>C (p.Ser87=)
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
NM_138387.4(G6PC3):c.325+14A>G
NM_138387.4(G6PC3):c.325+14_325+17del
NM_138387.4(G6PC3):c.325+18T>C
NM_138387.4(G6PC3):c.325+20del
NM_138387.4(G6PC3):c.325+8G>A
NM_138387.4(G6PC3):c.326-19C>T
NM_138387.4(G6PC3):c.326-20G>A
NM_138387.4(G6PC3):c.326-7C>T
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
NM_138387.4(G6PC3):c.384C>G (p.Ala128=)
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
NM_138387.4(G6PC3):c.402C>T (p.Ala134=)
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
NM_138387.4(G6PC3):c.416+11G>A
NM_138387.4(G6PC3):c.416+13C>A
NM_138387.4(G6PC3):c.416+13C>T
NM_138387.4(G6PC3):c.416+14A>G
NM_138387.4(G6PC3):c.416+17G>A
NM_138387.4(G6PC3):c.416+19C>G
NM_138387.4(G6PC3):c.416+8C>G
NM_138387.4(G6PC3):c.417-11C>G
NM_138387.4(G6PC3):c.417-11C>T
NM_138387.4(G6PC3):c.417-13C>T
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-15C>G
NM_138387.4(G6PC3):c.417-16C>T
NM_138387.4(G6PC3):c.417-18T>G
NM_138387.4(G6PC3):c.417-19T>G
NM_138387.4(G6PC3):c.417-9T>C
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) rs2144134939
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) rs141663645
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) rs2144149561
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
NM_138387.4(G6PC3):c.510C>T (p.His170=) rs2050059834
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
NM_138387.4(G6PC3):c.535+14G>A
NM_138387.4(G6PC3):c.535+14G>C rs756398916
NM_138387.4(G6PC3):c.535+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.536-4C>G rs2144151616
NM_138387.4(G6PC3):c.536-4dup
NM_138387.4(G6PC3):c.536-5C>T
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.57A>G (p.Leu19=)
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) rs1409898506
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) rs2050074491
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
NM_138387.4(G6PC3):c.677+11C>T
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.714T>C (p.Pro238=)
NM_138387.4(G6PC3):c.732T>C (p.Asp244=) rs1597911422
NM_138387.4(G6PC3):c.747C>T (p.Ala249=)
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
NM_138387.4(G6PC3):c.756C>T (p.Ser252=)
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
NM_138387.4(G6PC3):c.798C>T (p.His266=) rs558164927
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) rs2144155706
NM_138387.4(G6PC3):c.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.837A>G (p.Gly279=)
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.865C>T (p.Leu289=)
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
NM_138387.4(G6PC3):c.909C>A (p.Pro303=)
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) rs978510802
NM_138387.4(G6PC3):c.927C>T (p.Phe309=)
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.993A>G (p.Ala331=)
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)

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