ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 880
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001352514.2(HLCS):c.1960+16T>A rs73398135 0.03462
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_001352514.2(HLCS):c.494-13A>G rs76785742 0.00759
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_001352514.2(HLCS):c.2451-19C>T rs78671947 0.00290
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635 0.00270
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_001352514.2(HLCS):c.*590A>G rs148195019 0.00207
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_001352514.2(HLCS):c.*1856T>C rs151042283 0.00171
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_001352514.2(HLCS):c.*2921A>G rs555149143 0.00141
NM_001352514.2(HLCS):c.*2243C>T rs554230015 0.00140
NM_001352514.2(HLCS):c.*3162T>C rs552016201 0.00118
NM_001352514.2(HLCS):c.*2163A>G rs139776215 0.00115
NM_001352514.2(HLCS):c.2121+11T>A rs371974889 0.00105
NM_001352514.2(HLCS):c.*2444C>T rs546201018 0.00103
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001352514.2(HLCS):c.331-7076C>T rs541806392 0.00061
NM_001352514.2(HLCS):c.*2814C>T rs146199781 0.00059
NM_001352514.2(HLCS):c.*2545C>A rs180866987 0.00056
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053 0.00046
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842 0.00032
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085 0.00030
NM_001352514.2(HLCS):c.*2771C>T rs746169122 0.00029
NM_001352514.2(HLCS):c.*430T>C rs186680398 0.00029
NM_001352514.2(HLCS):c.*1084C>T rs530869762 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg) rs148868421 0.00026
NM_001352514.2(HLCS):c.*2541C>T rs184935954 0.00025
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390 0.00024
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp) rs144238478 0.00024
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn) rs149822970 0.00022
NM_001352514.2(HLCS):c.*1852G>T rs551457805 0.00019
NM_001352514.2(HLCS):c.*3156A>G rs886738924 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001352514.2(HLCS):c.*2069T>C rs540511044 0.00016
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659 0.00015
NM_001352514.2(HLCS):c.*1273T>A rs565500474 0.00014
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys) rs138844739 0.00014
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789 0.00014
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00013
NM_001352514.2(HLCS):c.*1827C>A rs768653798 0.00012
NM_001352514.2(HLCS):c.*2555T>C rs79868396 0.00012
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001352514.2(HLCS):c.*1594A>G rs776064678 0.00010
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080 0.00010
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn) rs139697458 0.00010
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811 0.00010
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn) rs373951547 0.00010
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567 0.00009
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445 0.00009
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001352514.2(HLCS):c.*1085G>A rs531457233 0.00008
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098 0.00008
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=) rs746277054 0.00008
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) rs373822815 0.00008
NM_001352514.2(HLCS):c.*2416C>T rs566088233 0.00007
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys) rs745652723 0.00007
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338 0.00007
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169 0.00007
NM_001352514.2(HLCS):c.*168G>T rs118099059 0.00006
NM_001352514.2(HLCS):c.*3253C>T rs529403596 0.00006
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001352514.2(HLCS):c.2450+7G>C rs373944714 0.00006
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn) rs761147008 0.00006
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp) rs150431185 0.00006
NM_001352514.2(HLCS):c.*1756C>T rs748180401 0.00005
NM_001352514.2(HLCS):c.*1953A>G rs767162730 0.00005
NM_001352514.2(HLCS):c.*2945C>T rs71332549 0.00005
NM_001352514.2(HLCS):c.*490C>T rs376741921 0.00005
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) rs200629955 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu) rs536067980 0.00005
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=) rs375809125 0.00005
NM_001352514.2(HLCS):c.*1089G>A rs146991267 0.00004
NM_001352514.2(HLCS):c.*1094T>C rs780432651 0.00004
NM_001352514.2(HLCS):c.*1097G>A rs886057070 0.00004
NM_001352514.2(HLCS):c.1621-9A>G rs374646852 0.00004
NM_001352514.2(HLCS):c.1961-7G>C rs145472697 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn) rs780948465 0.00004
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe) rs763508196 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001352514.2(HLCS):c.*1581T>C rs886057069 0.00003
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067 0.00003
NM_001352514.2(HLCS):c.*334A>G rs886057073 0.00003
NM_001352514.2(HLCS):c.*779A>T rs886057072 0.00003
NM_001352514.2(HLCS):c.*985C>A rs886057071 0.00003
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843 0.00003
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp) rs780469041 0.00003
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro) rs747122714 0.00003
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser) rs556454789 0.00003
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=) rs775832153 0.00003
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=) rs749728724 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567 0.00003
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=) rs370277326 0.00003
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800 0.00003
NM_001352514.2(HLCS):c.2451-8C>G rs373177254 0.00003
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=) rs761596791 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470 0.00003
NM_001352514.2(HLCS):c.885C>T (p.Pro295=) rs139989284 0.00003
NM_001352514.2(HLCS):c.*1071G>A rs987334114 0.00002
NM_001352514.2(HLCS):c.*14C>T rs778616712 0.00002
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580 0.00002
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=) rs543680851 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=) rs144016759 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys) rs547391411 0.00002
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322 0.00002
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=) rs748819971 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.2237-12G>C rs1487390204 0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551 0.00002
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=) rs138952612 0.00002
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr) rs376898721 0.00002
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser) rs773752745 0.00002
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys) rs145337682 0.00002
NM_001352514.2(HLCS):c.477A>C (p.Val159=) rs779019472 0.00002
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894 0.00002
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys) rs778638155 0.00002
NM_000411.8(HLCS):c.-393+7C>T rs886057081 0.00001
NM_001352514.2(HLCS):c.*1766G>A rs537534748 0.00001
NM_001352514.2(HLCS):c.*2434G>T rs886057062 0.00001
NM_001352514.2(HLCS):c.*2700C>T rs140135359 0.00001
NM_001352514.2(HLCS):c.*2847G>A rs1269300334 0.00001
NM_001352514.2(HLCS):c.*3043A>G rs539444862 0.00001
NM_001352514.2(HLCS):c.*3209C>T rs886057059 0.00001
NM_001352514.2(HLCS):c.*448G>C rs772947158 0.00001
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=) rs568871363 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=) rs773020648 0.00001
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=) rs765979436 0.00001
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=) rs1395979008 0.00001
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=) rs1188065092 0.00001
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala) rs1259711297 0.00001
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975 0.00001
NM_001352514.2(HLCS):c.1242C>G (p.Val414=) rs772203778 0.00001
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862 0.00001
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys) rs763927037 0.00001
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=) rs760694310 0.00001
NM_001352514.2(HLCS):c.1395T>C (p.His465=) rs2066885260 0.00001
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689 0.00001
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=) rs1034237557 0.00001
NM_001352514.2(HLCS):c.1437+7A>G rs1240794985 0.00001
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=) rs772808561 0.00001
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=) rs201862206 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=) rs148814769 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.1863G>A (p.Val621=) rs762642801 0.00001
NM_001352514.2(HLCS):c.1893-9C>G rs761781683 0.00001
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=) rs1369860703 0.00001
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741 0.00001
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076 0.00001
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys) rs1035549573 0.00001
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=) rs945618984 0.00001
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=) rs556886743 0.00001
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile) rs1460453809 0.00001
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=) rs764487201 0.00001
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys) rs1464046978 0.00001
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser) rs1285498636 0.00001
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln) rs1376040224 0.00001
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val) rs763760775 0.00001
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=) rs367725468 0.00001
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs) rs760372711 0.00001
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val) rs748447457 0.00001
NM_001352514.2(HLCS):c.2418C>G (p.Val806=) rs759416272 0.00001
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile) rs144116568 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001352514.2(HLCS):c.2463C>A (p.Val821=) rs779439814 0.00001
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr) rs1417729542 0.00001
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=) rs745670538 0.00001
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=) rs372467001 0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449 0.00001
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.456C>A (p.Leu152=) rs778232930 0.00001
NM_001352514.2(HLCS):c.494-8T>A rs778287214 0.00001
NM_001352514.2(HLCS):c.498G>A (p.Val166=) rs2066944593 0.00001
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758 0.00001
NM_001352514.2(HLCS):c.513C>T (p.Ser171=) rs755797089 0.00001
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) rs759396333 0.00001
NM_001352514.2(HLCS):c.540C>T (p.Val180=) rs574644351 0.00001
NM_001352514.2(HLCS):c.570G>A (p.Pro190=) rs780666266 0.00001
NM_001352514.2(HLCS):c.585T>C (p.Ser195=) rs1379810424 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.621T>C (p.His207=) rs1323740370 0.00001
NM_001352514.2(HLCS):c.681C>T (p.Ala227=) rs768745299 0.00001
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859 0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.744C>G (p.Leu248=) rs764416032 0.00001
NM_001352514.2(HLCS):c.762C>T (p.His254=) rs775946159 0.00001
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val) rs1342427477 0.00001
NM_001352514.2(HLCS):c.810G>A (p.Ala270=) rs747702795 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001352514.2(HLCS):c.861G>A (p.Glu287=) rs1410993144 0.00001
NM_001352514.2(HLCS):c.969C>T (p.Leu323=) rs1458636068 0.00001
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser) rs574778377 0.00001
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058 0.00001
NM_001352514.2(HLCS):c.996G>A (p.Val332=) rs745472061 0.00001
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_37707582)_(38139606_?)del
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000021.8:g.(?_38128823)_(38139606_?)del
NC_000021.8:g.(?_38132018)_(38362704_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38269150)_(38269441_?)del
NC_000021.8:g.(?_38302531)_(38302753_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NM_000411.8(HLCS):c.-393+2558C>T
NM_000411.8(HLCS):c.1681dup
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*2647T>A rs2089366675
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2952CT[1] rs886057061
NM_001352514.2(HLCS):c.*3050A>G rs2089352875
NM_001352514.2(HLCS):c.*305T>C rs2089455426
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A rs552016201
NM_001352514.2(HLCS):c.*3175A>G rs2089348881
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=) rs2066910824
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=) rs765699943
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=) rs1459880908
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=) rs2146525599
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=) rs780469041
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=) rs1450990152
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=) rs1199413324
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=) rs2066903072
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile) rs538157231
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter) rs2146525207
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=) rs1057523540
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=) rs979308593
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=) rs979308593
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln) rs1601802008
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=) rs757706257
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=) rs2146524449
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=) rs2146524399
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=) rs2146524204
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=) rs2066890502
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=) rs139902499
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=) rs2146523893
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=) rs756934917
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=) rs771883068
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg) rs899013389
NM_001352514.2(HLCS):c.1437+10G>A
NM_001352514.2(HLCS):c.1437+13G>T
NM_001352514.2(HLCS):c.1437+14C>T
NM_001352514.2(HLCS):c.1437+15A>G
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1437+20T>A
NM_001352514.2(HLCS):c.1437+8G>A rs777565665
NM_001352514.2(HLCS):c.1438-17C>T
NM_001352514.2(HLCS):c.1438-1G>C
NM_001352514.2(HLCS):c.1438-6C>T
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
NM_001352514.2(HLCS):c.1473G>T (p.Val491=) rs367611748
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=) rs2066584824
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys) rs747688148
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer) rs1288789420
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=) rs138442090
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
NM_001352514.2(HLCS):c.1552del (p.Gly519fs) rs1569206815
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
NM_001352514.2(HLCS):c.1620+15C>G
NM_001352514.2(HLCS):c.1620+17G>A
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1620+7T>G
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1620+8G>A rs1569206652
NM_001352514.2(HLCS):c.1620+9T>G rs2146492738
NM_001352514.2(HLCS):c.1620+9del
NM_001352514.2(HLCS):c.1621-11T>C
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-19T>A
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1621-8T>C
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=) rs2146336527
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs) rs2146336516
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=) rs1344897387
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=) rs2146336458
NM_001352514.2(HLCS):c.1634del (p.Pro545fs) rs2146336447
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=) rs2146336432
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=) rs1366041798
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg) rs2146336242
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=) rs2146336131
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr) rs770873445
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=) rs2146335962
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs) rs2065041493
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=) rs2146335640
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=) rs771694153
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr) rs987805504
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu) rs973578825
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=) rs1601665712
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=) rs2146335404
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=) rs1240730503
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=) rs760230537
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=) rs2146334911
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=) rs769822408
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=) rs769822408
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=) rs2146334744
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1892+8G>T rs2065029914
NM_001352514.2(HLCS):c.1893-11C>G
NM_001352514.2(HLCS):c.1893-14C>T
NM_001352514.2(HLCS):c.1893-22_1893-14dup
NM_001352514.2(HLCS):c.1893-5G>C
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser) rs2145777265
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile) rs2145777174
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val) rs1173267062
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=) rs1031377645
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.1960+7C>T
NM_001352514.2(HLCS):c.1960+8A>G rs2145776793
NM_001352514.2(HLCS):c.1960+8A>T
NM_001352514.2(HLCS):c.1960+9T>C
NM_001352514.2(HLCS):c.1961-12C>A
NM_001352514.2(HLCS):c.1961-12C>T
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=) rs2145768209
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=) rs2145768179
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=) rs1568975308
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=) rs2089984668
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=) rs755088995
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) rs773627772
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2121+10G>A rs2145767655
NM_001352514.2(HLCS):c.2121+14A>G
NM_001352514.2(HLCS):c.2121+16T>C
NM_001352514.2(HLCS):c.2121+8C>A rs2089982138
NM_001352514.2(HLCS):c.2121+8C>T rs2089982138
NM_001352514.2(HLCS):c.2121+9A>G
NM_001352514.2(HLCS):c.2122-13G>A
NM_001352514.2(HLCS):c.2122-19T>C
NM_001352514.2(HLCS):c.2122-6C>T rs764724435
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2190T>C (p.Val730=) rs2089756578
NM_001352514.2(HLCS):c.2196T>A (p.Val732=) rs2145744309
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala) rs2089755704
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=) rs2145744246
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=) rs764487201
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=) rs2145744147
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
NM_001352514.2(HLCS):c.2236+13A>T
NM_001352514.2(HLCS):c.2236+16C>T
NM_001352514.2(HLCS):c.2236+17T>C
NM_001352514.2(HLCS):c.2236+20C>A
NM_001352514.2(HLCS):c.2237-19A>G
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.2237-6G>A rs201208730
NM_001352514.2(HLCS):c.2237-7dup
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=) rs2145732165
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=) rs760492059
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=) rs2145731986
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn) rs2145731806
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
NM_001352514.2(HLCS):c.2313C>T (p.His771=) rs1376040224
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=) rs2123576595
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=) rs2123576546
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=) rs747302103
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=) rs2123575791
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=) rs2123575709
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=) rs763530346
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=) rs2089605319
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly) rs755620019
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=) rs766430268
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2450+1_2450+2del rs2089602804
NM_001352514.2(HLCS):c.2450+20C>T rs2123574898
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.2450+4A>G
NM_001352514.2(HLCS):c.2450+8C>T rs2123575052
NM_001352514.2(HLCS):c.2450+9T>C
NM_001352514.2(HLCS):c.2451-13T>C rs2123556883
NM_001352514.2(HLCS):c.2451-15G>C
NM_001352514.2(HLCS):c.2451-18G>A
NM_001352514.2(HLCS):c.2451-19C>A
NM_001352514.2(HLCS):c.2451-19C>G
NM_001352514.2(HLCS):c.2451-2A>G
NM_001352514.2(HLCS):c.2451-4del
NM_001352514.2(HLCS):c.2451-8C>T rs373177254
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=) rs2123556668
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=) rs2089478015
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser) rs376898721
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=) rs2123556491
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala) rs2123556320
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=) rs768097284
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly) rs761490181
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
NM_001352514.2(HLCS):c.471A>C (p.Gly157=) rs2146535946
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala) rs2146535803
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.493+12T>C
NM_001352514.2(HLCS):c.493+15A>G
NM_001352514.2(HLCS):c.493+18A>C
NM_001352514.2(HLCS):c.493+20G>A
NM_001352514.2(HLCS):c.493+2T>C
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-17T>A
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-25TC[3]
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.494-25TC[6] rs146532042
NM_001352514.2(HLCS):c.494-2A>T
NM_001352514.2(HLCS):c.494-7G>A
NM_001352514.2(HLCS):c.494-7G>C rs1437015433
NM_001352514.2(HLCS):c.494-8T>C rs778287214
NM_001352514.2(HLCS):c.494-9A>T
NM_001352514.2(HLCS):c.495G>A (p.Ser165=) rs1254077652
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
NM_001352514.2(HLCS):c.504G>A (p.Leu168=) rs2066944309
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=) rs752570659
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter) rs2066942649
NM_001352514.2(HLCS):c.537G>A (p.Gln179=) rs2146529501
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
NM_001352514.2(HLCS):c.567G>A (p.Glu189=) rs61732504
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
NM_001352514.2(HLCS):c.579A>G (p.Glu193=) rs2146529125
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu) rs565756796
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=) rs2066937541
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys) rs2066934793
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.678T>C (p.Ser226=) rs2146528574
NM_001352514.2(HLCS):c.684T>G (p.Ser228=) rs2146528551
NM_001352514.2(HLCS):c.687G>C (p.Gly229=) rs2146528539
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.702G>A (p.Gly234=) rs373193883
NM_001352514.2(HLCS):c.711C>T (p.Asp237=) rs754558925
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001352514.2(HLCS):c.741C>T (p.His247=) rs761937078
NM_001352514.2(HLCS):c.749del (p.Leu250fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=) rs751148714
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter) rs937407062
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe) rs2066926744
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.783C>T (p.Asn261=) rs1601805290
NM_001352514.2(HLCS):c.792T>C (p.Ile264=) rs775055913
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=) rs1228716242
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
NM_001352514.2(HLCS):c.816C>G (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.828A>G (p.Pro276=) rs2066924267
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
NM_001352514.2(HLCS):c.834T>C (p.Leu278=) rs2146527642
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile) rs912685138
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
NM_001352514.2(HLCS):c.915G>A (p.Thr305=) rs1000269533
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.933C>T (p.Ile311=) rs1057523220
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=) rs1232499269
NM_001352514.2(HLCS):c.945G>T (p.Val315=) rs2146526787
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001352514.2(HLCS):c.963A>G (p.Glu321=) rs767893846
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro) rs368754318
NM_001352514.2(HLCS):c.990G>A (p.Arg330=) rs771741236
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=) rs1245601073
NM_001352514.2(HLCS):c.999G>T (p.Leu333=) rs1324605554

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.