ClinVar Miner

List of variants reported as uncertain significance for megaloblastic anemia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 652
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734 0.00075
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_206965.2(FTCD):c.1364C>T (p.Ala455Val) rs61735840 0.00065
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met) rs138989259 0.00054
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly) rs370794142 0.00053
NM_001081.4(CUBN):c.2929T>C (p.Phe977Leu) rs142292210 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_030943.4(AMN):c.928G>A (p.Val310Met) rs201788173 0.00043
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001081.4(CUBN):c.8593G>A (p.Val2865Met) rs146847375 0.00037
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp) rs146463364 0.00034
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_030943.4(AMN):c.651+3G>T rs751723677 0.00034
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.791G>C (p.Arg264Thr) rs144440300 0.00032
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_206965.2(FTCD):c.959G>A (p.Arg320Gln) rs77740289 0.00030
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_206965.2(FTCD):c.149C>T (p.Thr50Ile) rs199769706 0.00024
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_206965.2(FTCD):c.430G>A (p.Gly144Arg) rs138139105 0.00022
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser) rs143835350 0.00020
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_206965.2(FTCD):c.161C>T (p.Pro54Leu) rs374193438 0.00018
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_206965.2(FTCD):c.571G>A (p.Gly191Ser) rs376603123 0.00016
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys) rs139369652 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_206965.2(FTCD):c.593G>A (p.Arg198His) rs142358848 0.00012
NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) rs149445900 0.00012
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu) rs376845160 0.00011
NM_001081.4(CUBN):c.2177G>A (p.Gly726Glu) rs767277942 0.00010
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn) rs543983858 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966 0.00010
NM_206965.2(FTCD):c.476C>T (p.Ala159Val) rs200652518 0.00010
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg) rs147955566 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met) rs537292240 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_030943.4(AMN):c.1123G>C (p.Val375Leu) rs759831593 0.00009
NM_206965.2(FTCD):c.857G>A (p.Cys286Tyr) rs372299678 0.00009
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln) rs755862991 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr) rs368864485 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_206965.2(FTCD):c.1307G>A (p.Arg436His) rs373471933 0.00008
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala) rs201138390 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_030943.4(AMN):c.197T>C (p.Val66Ala) rs371713937 0.00007
NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr) rs1195012799 0.00007
NM_206965.2(FTCD):c.625G>A (p.Gly209Arg) rs367906516 0.00007
NM_206965.2(FTCD):c.988G>A (p.Gly330Arg) rs774835292 0.00007
NM_001081.4(CUBN):c.1999A>G (p.Thr667Ala) rs141089159 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.3802C>T (p.Arg1268Cys) rs747558831 0.00006
NM_001081.4(CUBN):c.5092G>A (p.Gly1698Ser) rs201661017 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_030943.4(AMN):c.805C>T (p.Arg269Trp) rs200712130 0.00006
NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp) rs201966668 0.00006
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val) rs369754449 0.00006
NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) rs28941768 0.00006
NM_206965.2(FTCD):c.532G>T (p.Ala178Ser) rs911364543 0.00006
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp) rs564637804 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001081.4(CUBN):c.9681T>A (p.Ser3227Arg) rs773439837 0.00005
NM_030943.4(AMN):c.400C>G (p.Arg134Gly) rs758317090 0.00005
NM_001081.4(CUBN):c.10282C>T (p.Pro3428Ser) rs117570588 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.258G>T (p.Gln86His) rs778278804 0.00004
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg) rs201443885 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg) rs147373223 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys) rs149102355 0.00004
NM_001081.4(CUBN):c.7741A>C (p.Asn2581His) rs762764264 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8330A>G (p.Asn2777Ser) rs757561186 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9555T>G (p.Cys3185Trp) rs746114034 0.00004
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu) rs566296480 0.00004
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser) rs1345352857 0.00004
NM_030943.4(AMN):c.500C>T (p.Ser167Leu) rs774698023 0.00004
NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr) rs376572763 0.00004
NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp) rs556952105 0.00004
NM_206965.2(FTCD):c.22G>A (p.Val8Ile) rs368109014 0.00004
NM_206965.2(FTCD):c.35C>T (p.Ser12Leu) rs201753824 0.00004
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys) rs754659947 0.00004
NM_001081.4(CUBN):c.10764+1G>A rs374982220 0.00003
NM_001081.4(CUBN):c.1351G>A (p.Val451Ile) rs746956601 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.260A>G (p.Lys87Arg) rs754451499 0.00003
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser) rs567450170 0.00003
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr) rs144132364 0.00003
NM_001081.4(CUBN):c.4739C>T (p.Thr1580Met) rs550619948 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr) rs569915247 0.00003
NM_030943.4(AMN):c.448T>C (p.Phe150Leu) rs1039668619 0.00003
NM_030943.4(AMN):c.811C>T (p.Arg271Trp) rs765147150 0.00003
NM_206965.2(FTCD):c.172G>A (p.Val58Met) rs749659966 0.00003
NM_206965.2(FTCD):c.250C>T (p.Arg84Cys) rs576603499 0.00003
NM_206965.2(FTCD):c.425G>A (p.Arg142Gln) rs375990689 0.00003
NM_206965.2(FTCD):c.49C>A (p.Gln17Lys) rs776696117 0.00003
NM_206965.2(FTCD):c.61G>A (p.Asp21Asn) rs750462888 0.00003
NM_001081.4(CUBN):c.10136T>C (p.Val3379Ala) rs1239695630 0.00002
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser) rs780850360 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile) rs746111876 0.00002
NM_001081.4(CUBN):c.4034G>A (p.Arg1345Gln) rs377486978 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser) rs368261414 0.00002
NM_001081.4(CUBN):c.8017G>A (p.Glu2673Lys) rs781304382 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.9385C>T (p.Leu3129Phe) rs762293500 0.00002
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg) rs772196844 0.00002
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser) rs1339571276 0.00002
NM_030943.4(AMN):c.110G>A (p.Ser37Asn) rs200648108 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_030943.4(AMN):c.532G>A (p.Asp178Asn) rs575761625 0.00002
NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg) rs545214029 0.00002
NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu) rs755986536 0.00002
NM_206965.2(FTCD):c.197C>T (p.Ala66Val) rs199867833 0.00002
NM_206965.2(FTCD):c.847G>A (p.Ala283Thr) rs760635509 0.00002
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn) rs768846551 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser) rs140397272 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1978C>A (p.Leu660Ile) rs1836092449 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.289G>A (p.Gly97Arg) rs763105241 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys) rs763475348 0.00001
NM_001081.4(CUBN):c.3500G>T (p.Gly1167Val) rs773892336 0.00001
NM_001081.4(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3977A>C (p.Asp1326Ala) rs774933317 0.00001
NM_001081.4(CUBN):c.4312G>T (p.Val1438Leu) rs764937978 0.00001
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp) rs551594427 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.5021C>T (p.Thr1674Met) rs747701083 0.00001
NM_001081.4(CUBN):c.5083C>T (p.Arg1695Cys) rs770776726 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5470G>A (p.Val1824Ile) rs776108051 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5716T>C (p.Tyr1906His) rs186721969 0.00001
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala) rs1483369204 0.00001
NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val) rs1379361226 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.6991T>C (p.Tyr2331His) rs767769110 0.00001
NM_001081.4(CUBN):c.704G>C (p.Arg235Pro) rs752992672 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7390A>C (p.Thr2464Pro) rs769747844 0.00001
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro) rs145347743 0.00001
NM_001081.4(CUBN):c.7625C>A (p.Thr2542Lys) rs1841590875 0.00001
NM_001081.4(CUBN):c.83T>C (p.Leu28Pro) rs1054077052 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu) rs758557930 0.00001
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile) rs142248018 0.00001
NM_001081.4(CUBN):c.8881A>T (p.Thr2961Ser) rs774440223 0.00001
NM_001081.4(CUBN):c.9208G>A (p.Val3070Ile) rs144314567 0.00001
NM_001081.4(CUBN):c.9433A>G (p.Met3145Val) rs367575656 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9841A>T (p.Thr3281Ser) rs570241713 0.00001
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp) rs1034430613 0.00001
NM_030943.4(AMN):c.108G>C (p.Trp36Cys) rs199835580 0.00001
NM_030943.4(AMN):c.296-3C>T rs764763091 0.00001
NM_030943.4(AMN):c.356G>T (p.Arg119Leu) rs533436439 0.00001
NM_030943.4(AMN):c.790G>A (p.Ala264Thr) rs1450455717 0.00001
NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe) rs755340941 0.00001
NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys) rs1188352065 0.00001
NM_206965.2(FTCD):c.1589C>T (p.Ala530Val) rs759031386 0.00001
NM_206965.2(FTCD):c.200G>A (p.Arg67Gln) rs765154985 0.00001
NM_206965.2(FTCD):c.251G>A (p.Arg84His) rs748347001 0.00001
NM_206965.2(FTCD):c.274C>T (p.Pro92Ser) rs749149640 0.00001
NM_206965.2(FTCD):c.521C>T (p.Thr174Met) rs757064013 0.00001
NM_206965.2(FTCD):c.774+4A>G rs759550771 0.00001
NM_206965.2(FTCD):c.842C>T (p.Ala281Val) rs752941882 0.00001
NC_000010.10:g.(?_16866974)_(16867101_?)del
NC_000010.10:g.(?_16866974)_(18828653_?)dup
NC_000021.9:g.(?_46136967)_(46155543_?)dup
NM_001081.4(CUBN):c.1003G>C (p.Ala335Pro)
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
NM_001081.4(CUBN):c.10176T>G (p.Ile3392Met)
NM_001081.4(CUBN):c.10246G>A (p.Asp3416Asn)
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
NM_001081.4(CUBN):c.10295C>T (p.Thr3432Ile) rs7898873
NM_001081.4(CUBN):c.10383C>A (p.Ser3461Arg)
NM_001081.4(CUBN):c.10397T>A (p.Leu3466Gln)
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
NM_001081.4(CUBN):c.1049C>T (p.Thr350Ile)
NM_001081.4(CUBN):c.10513A>G (p.Thr3505Ala)
NM_001081.4(CUBN):c.10526C>G (p.Ser3509Cys)
NM_001081.4(CUBN):c.10529-3C>T rs1838885191
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
NM_001081.4(CUBN):c.10547A>T (p.Tyr3516Phe)
NM_001081.4(CUBN):c.10591T>C (p.Tyr3531His) rs1388282481
NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys) rs756614749
NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.10798A>C (p.Asn3600His) rs763168436
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr) rs2131302483
NM_001081.4(CUBN):c.1186A>G (p.Ser396Gly)
NM_001081.4(CUBN):c.1210T>G (p.Cys404Gly) rs2131302341
NM_001081.4(CUBN):c.1220G>A (p.Gly407Glu)
NM_001081.4(CUBN):c.1228A>G (p.Ile410Val)
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
NM_001081.4(CUBN):c.1301A>G (p.Asn434Ser)
NM_001081.4(CUBN):c.1342G>A (p.Val448Ile) rs2131301048
NM_001081.4(CUBN):c.1378C>T (p.Arg460Cys)
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
NM_001081.4(CUBN):c.1474G>T (p.Val492Phe) rs753563615
NM_001081.4(CUBN):c.1512C>G (p.Ile504Met)
NM_001081.4(CUBN):c.1522A>G (p.Met508Val)
NM_001081.4(CUBN):c.1523T>C (p.Met508Thr)
NM_001081.4(CUBN):c.1537C>T (p.Arg513Cys)
NM_001081.4(CUBN):c.1538G>A (p.Arg513His)
NM_001081.4(CUBN):c.1543A>T (p.Thr515Ser)
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
NM_001081.4(CUBN):c.1553T>C (p.Phe518Ser) rs2131296213
NM_001081.4(CUBN):c.1559G>A (p.Arg520Gln)
NM_001081.4(CUBN):c.1559G>T (p.Arg520Leu)
NM_001081.4(CUBN):c.1571T>G (p.Met524Arg)
NM_001081.4(CUBN):c.1586A>G (p.His529Arg)
NM_001081.4(CUBN):c.1616C>T (p.Ser539Phe)
NM_001081.4(CUBN):c.1634T>G (p.Leu545Arg)
NM_001081.4(CUBN):c.1685A>G (p.Asn562Ser)
NM_001081.4(CUBN):c.1688C>T (p.Ala563Val) rs2131295988
NM_001081.4(CUBN):c.1739C>G (p.Thr580Arg)
NM_001081.4(CUBN):c.1752A>T (p.Glu584Asp)
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
NM_001081.4(CUBN):c.1805A>T (p.Lys602Met)
NM_001081.4(CUBN):c.181A>T (p.Ile61Phe)
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.1844A>G (p.Asp615Gly)
NM_001081.4(CUBN):c.1915C>A (p.His639Asn) rs370816201
NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)
NM_001081.4(CUBN):c.1942C>T (p.Leu648Phe) rs2131869310
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
NM_001081.4(CUBN):c.1997C>T (p.Thr666Ile)
NM_001081.4(CUBN):c.2015C>G (p.Pro672Arg) rs776433038
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
NM_001081.4(CUBN):c.2032C>G (p.Pro678Ala) rs1348130743
NM_001081.4(CUBN):c.2077C>G (p.Gln693Glu) rs2131865388
NM_001081.4(CUBN):c.2087A>G (p.His696Arg)
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
NM_001081.4(CUBN):c.2132A>G (p.Asn711Ser)
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
NM_001081.4(CUBN):c.2275A>G (p.Ser759Gly)
NM_001081.4(CUBN):c.2322A>C (p.Leu774Phe)
NM_001081.4(CUBN):c.2329A>G (p.Lys777Glu)
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
NM_001081.4(CUBN):c.2470G>A (p.Glu824Lys)
NM_001081.4(CUBN):c.2495T>G (p.Phe832Cys)
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
NM_001081.4(CUBN):c.2695A>G (p.Ile899Val)
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)
NM_001081.4(CUBN):c.2790G>C (p.Leu930Phe)
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2810C>G (p.Thr937Arg) rs200383906
NM_001081.4(CUBN):c.2860C>G (p.His954Asp)
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
NM_001081.4(CUBN):c.2980G>T (p.Asp994Tyr)
NM_001081.4(CUBN):c.302G>A (p.Gly101Asp)
NM_001081.4(CUBN):c.3049G>A (p.Gly1017Ser) rs1207798792
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
NM_001081.4(CUBN):c.313A>G (p.Asn105Asp)
NM_001081.4(CUBN):c.3140-19G>A
NM_001081.4(CUBN):c.3143G>A (p.Cys1048Tyr)
NM_001081.4(CUBN):c.3210C>A (p.Asn1070Lys)
NM_001081.4(CUBN):c.3212A>G (p.Asn1071Ser)
NM_001081.4(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln) rs184585798
NM_001081.4(CUBN):c.3238G>A (p.Val1080Met) rs2131822280
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln) rs1325425384
NM_001081.4(CUBN):c.3443T>C (p.Ile1148Thr)
NM_001081.4(CUBN):c.3464C>T (p.Ser1155Leu)
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
NM_001081.4(CUBN):c.3718T>G (p.Cys1240Gly)
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3832T>C (p.Cys1278Arg)
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
NM_001081.4(CUBN):c.3894T>A (p.Asn1298Lys)
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3931C>G (p.Arg1311Gly)
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.397A>G (p.Lys133Glu)
NM_001081.4(CUBN):c.400A>G (p.Lys134Glu)
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4094A>G (p.Lys1365Arg) rs2131782772
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4186T>C (p.Ser1396Pro)
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
NM_001081.4(CUBN):c.4264A>G (p.Arg1422Gly)
NM_001081.4(CUBN):c.4276G>A (p.Gly1426Arg)
NM_001081.4(CUBN):c.4280G>C (p.Ser1427Thr) rs754229455
NM_001081.4(CUBN):c.4283G>C (p.Ser1428Thr)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.4426C>G (p.Gln1476Glu) rs867893935
NM_001081.4(CUBN):c.4448A>C (p.Glu1483Ala)
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser) rs2131700976
NM_001081.4(CUBN):c.4502C>A (p.Ala1501Glu)
NM_001081.4(CUBN):c.4529G>A (p.Cys1510Tyr)
NM_001081.4(CUBN):c.4562_4563delinsCA (p.Ile1521Thr)
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg) rs1251118545
NM_001081.4(CUBN):c.463T>G (p.Phe155Val) rs2131324118
NM_001081.4(CUBN):c.4640G>A (p.Arg1547His)
NM_001081.4(CUBN):c.4676C>A (p.Pro1559Gln)
NM_001081.4(CUBN):c.4695+5G>A
NM_001081.4(CUBN):c.4712G>A (p.Ser1571Asn)
NM_001081.4(CUBN):c.4727G>A (p.Arg1576His)
NM_001081.4(CUBN):c.475C>A (p.Pro159Thr)
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
NM_001081.4(CUBN):c.4799G>A (p.Arg1600Lys)
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
NM_001081.4(CUBN):c.4844A>G (p.Gln1615Arg)
NM_001081.4(CUBN):c.4873C>T (p.Leu1625Phe)
NM_001081.4(CUBN):c.4877C>T (p.Thr1626Ile)
NM_001081.4(CUBN):c.489+3G>A rs555885592
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
NM_001081.4(CUBN):c.4981A>G (p.Thr1661Ala)
NM_001081.4(CUBN):c.4A>G (p.Met2Val)
NM_001081.4(CUBN):c.5005C>A (p.Leu1669Ile)
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
NM_001081.4(CUBN):c.5149G>T (p.Val1717Phe)
NM_001081.4(CUBN):c.5170G>A (p.Ala1724Thr)
NM_001081.4(CUBN):c.5173G>A (p.Gly1725Arg)
NM_001081.4(CUBN):c.517G>A (p.Glu173Lys)
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
NM_001081.4(CUBN):c.5197G>A (p.Ala1733Thr)
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser) rs2131619882
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5317G>T (p.Gly1773Cys)
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.5338T>C (p.Phe1780Leu)
NM_001081.4(CUBN):c.5351A>G (p.Gln1784Arg)
NM_001081.4(CUBN):c.5411C>T (p.Thr1804Met)
NM_001081.4(CUBN):c.5434T>C (p.Cys1812Arg)
NM_001081.4(CUBN):c.5497A>G (p.Ile1833Val)
NM_001081.4(CUBN):c.5521A>T (p.Thr1841Ser)
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5600T>C (p.Phe1867Ser)
NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)
NM_001081.4(CUBN):c.5672A>G (p.His1891Arg)
NM_001081.4(CUBN):c.5677A>G (p.Arg1893Gly)
NM_001081.4(CUBN):c.5738A>G (p.Tyr1913Cys)
NM_001081.4(CUBN):c.5752A>G (p.Ile1918Val) rs1842556433
NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)
NM_001081.4(CUBN):c.5783G>T (p.Gly1928Val)
NM_001081.4(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5840C>T (p.Ser1947Phe)
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
NM_001081.4(CUBN):c.5893G>A (p.Ala1965Thr)
NM_001081.4(CUBN):c.5943C>A (p.Phe1981Leu)
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
NM_001081.4(CUBN):c.6011T>G (p.Val2004Gly)
NM_001081.4(CUBN):c.6047C>T (p.Thr2016Ile)
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr) rs2131594633
NM_001081.4(CUBN):c.6127G>A (p.Asp2043Asn)
NM_001081.4(CUBN):c.6178G>C (p.Gly2060Arg)
NM_001081.4(CUBN):c.6188G>A (p.Arg2063Gln)
NM_001081.4(CUBN):c.6228C>G (p.Asp2076Glu)
NM_001081.4(CUBN):c.622C>T (p.Pro208Ser)
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
NM_001081.4(CUBN):c.6272-7T>A rs1333033381
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.6439T>C (p.Cys2147Arg)
NM_001081.4(CUBN):c.6464T>C (p.Leu2155Pro) rs2131581941
NM_001081.4(CUBN):c.6482T>A (p.Ile2161Asn)
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
NM_001081.4(CUBN):c.6547A>G (p.Thr2183Ala)
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
NM_001081.4(CUBN):c.6647-5C>G
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
NM_001081.4(CUBN):c.670C>T (p.Arg224Cys)
NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)
NM_001081.4(CUBN):c.6749T>G (p.Ile2250Ser)
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
NM_001081.4(CUBN):c.6797G>A (p.Arg2266Gln) rs1437222146
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6848G>A (p.Arg2283Gln)
NM_001081.4(CUBN):c.6856G>A (p.Val2286Met)
NM_001081.4(CUBN):c.685A>G (p.Ile229Val)
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
NM_001081.4(CUBN):c.6950G>A (p.Arg2317Gln)
NM_001081.4(CUBN):c.7007G>A (p.Cys2336Tyr) rs1413359792
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del) rs1279549461
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
NM_001081.4(CUBN):c.7096C>A (p.His2366Asn) rs1261134940
NM_001081.4(CUBN):c.7105G>A (p.Gly2369Arg)
NM_001081.4(CUBN):c.7126A>G (p.Thr2376Ala) rs2131458000
NM_001081.4(CUBN):c.7183G>A (p.Val2395Met)
NM_001081.4(CUBN):c.7251C>G (p.Asp2417Glu)
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
NM_001081.4(CUBN):c.731G>A (p.Ser244Asn)
NM_001081.4(CUBN):c.7379T>C (p.Ile2460Thr)
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.73G>A (p.Ala25Thr)
NM_001081.4(CUBN):c.7435G>A (p.Glu2479Lys)
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
NM_001081.4(CUBN):c.7522G>A (p.Glu2508Lys)
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu) rs2131438965
NM_001081.4(CUBN):c.7582A>G (p.Ser2528Gly) rs1047710609
NM_001081.4(CUBN):c.7602T>A (p.Asn2534Lys)
NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)
NM_001081.4(CUBN):c.7637T>G (p.Ile2546Ser)
NM_001081.4(CUBN):c.7667G>A (p.Gly2556Asp)
NM_001081.4(CUBN):c.7794C>A (p.Asn2598Lys)
NM_001081.4(CUBN):c.7885C>A (p.Gln2629Lys)
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.797A>G (p.Glu266Gly) rs2131312260
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
NM_001081.4(CUBN):c.8049G>T (p.Lys2683Asn)
NM_001081.4(CUBN):c.8061A>G (p.Thr2687=)
NM_001081.4(CUBN):c.8062+3A>G
NM_001081.4(CUBN):c.8129A>G (p.Asp2710Gly)
NM_001081.4(CUBN):c.8161G>T (p.Ala2721Ser)
NM_001081.4(CUBN):c.8177C>T (p.Thr2726Ile)
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser) rs983265041
NM_001081.4(CUBN):c.8278A>G (p.Ile2760Val) rs749282139
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
NM_001081.4(CUBN):c.8320T>A (p.Ser2774Thr)
NM_001081.4(CUBN):c.836A>G (p.Gln279Arg)
NM_001081.4(CUBN):c.8390C>T (p.Thr2797Met)
NM_001081.4(CUBN):c.8405C>G (p.Thr2802Ser)
NM_001081.4(CUBN):c.8411-3C>T
NM_001081.4(CUBN):c.8417G>A (p.Gly2806Asp) rs2131417467
NM_001081.4(CUBN):c.8441G>A (p.Gly2814Asp)
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8600T>A (p.Val2867Glu) rs2131400339
NM_001081.4(CUBN):c.8635C>G (p.Leu2879Val) rs1801238
NM_001081.4(CUBN):c.8641A>G (p.Thr2881Ala)
NM_001081.4(CUBN):c.8648G>A (p.Cys2883Tyr)
NM_001081.4(CUBN):c.8711C>G (p.Ser2904Cys)
NM_001081.4(CUBN):c.8711C>T (p.Ser2904Phe) rs1588623068
NM_001081.4(CUBN):c.8794A>T (p.Ile2932Phe) rs2131396329
NM_001081.4(CUBN):c.883+5A>G
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)
NM_001081.4(CUBN):c.8958A>C (p.Arg2986Ser)
NM_001081.4(CUBN):c.8967C>A (p.Ser2989Arg) rs560485793
NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr) rs756775921
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser) rs756775921
NM_001081.4(CUBN):c.9078C>A (p.Phe3026Leu) rs140524729
NM_001081.4(CUBN):c.9166G>T (p.Ala3056Ser) rs569915247
NM_001081.4(CUBN):c.9185T>C (p.Met3062Thr)
NM_001081.4(CUBN):c.9266C>T (p.Thr3089Ile)
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)
NM_001081.4(CUBN):c.9605A>C (p.Asn3202Thr)
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)
NM_001081.4(CUBN):c.9622G>T (p.Ala3208Ser)
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
NM_001081.4(CUBN):c.9721G>A (p.Val3241Ile)
NM_001081.4(CUBN):c.9727G>A (p.Ala3243Thr)
NM_001081.4(CUBN):c.9751T>G (p.Phe3251Val)
NM_001081.4(CUBN):c.9830C>T (p.Pro3277Leu)
NM_001081.4(CUBN):c.9998C>T (p.Thr3333Met)
NM_030943.4(AMN):c.1006+6C>T
NM_030943.4(AMN):c.1007-3C>T rs1318731733
NM_030943.4(AMN):c.1036A>T (p.Met346Leu) rs1215795347
NM_030943.4(AMN):c.1056C>A (p.His352Gln) rs773203683
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup) rs1428691401
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
NM_030943.4(AMN):c.1165C>A (p.Leu389Ile)
NM_030943.4(AMN):c.1169+17_1169+36del
NM_030943.4(AMN):c.1183G>A (p.Glu395Lys)
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
NM_030943.4(AMN):c.1257G>A (p.Leu419=) rs2139313588
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs) rs2139314176
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser) rs1354241478
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
NM_030943.4(AMN):c.163-3C>T
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
NM_030943.4(AMN):c.250G>A (p.Gly84Arg)
NM_030943.4(AMN):c.268G>A (p.Val90Met)
NM_030943.4(AMN):c.290G>A (p.Gly97Asp)
NM_030943.4(AMN):c.294G>A (p.Ala98=)
NM_030943.4(AMN):c.296-9C>G
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
NM_030943.4(AMN):c.44-7_44-5del rs774101952
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
NM_030943.4(AMN):c.454G>A (p.Val152Met)
NM_030943.4(AMN):c.463G>C (p.Gly155Arg)
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
NM_030943.4(AMN):c.56C>T (p.Ala19Val) rs979571435
NM_030943.4(AMN):c.5G>A (p.Gly2Asp)
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
NM_030943.4(AMN):c.652-20A>G
NM_030943.4(AMN):c.682C>G (p.Gln228Glu) rs1163522093
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
NM_030943.4(AMN):c.730C>T (p.Arg244Trp)
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
NM_030943.4(AMN):c.854A>T (p.His285Leu)
NM_030943.4(AMN):c.855C>G (p.His285Gln)
NM_030943.4(AMN):c.864G>T (p.Gln288His)
NM_030943.4(AMN):c.873_874dup (p.Ser292fs) rs2139311797
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
NM_030943.4(AMN):c.948del (p.Glu317fs) rs2139312056
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)
NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr) rs775567630
NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)
NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del) rs780057373
NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)
NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)
NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)
NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)
NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)
NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp) rs769728202
NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del) rs2123482286
NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr) rs1162672679
NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val) rs2123481486
NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)
NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)
NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)
NM_206965.2(FTCD):c.151T>G (p.Phe51Val)
NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu) rs141582814
NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)
NM_206965.2(FTCD):c.1539+4_1539+11del rs755855475
NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)
NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)
NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp) rs756994444
NM_206965.2(FTCD):c.176T>G (p.Val59Gly)
NM_206965.2(FTCD):c.214C>T (p.Leu72Phe) rs1378684756
NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)
NM_206965.2(FTCD):c.224T>C (p.Met75Thr) rs2123584379
NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)
NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)
NM_206965.2(FTCD):c.367+6C>T
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)
NM_206965.2(FTCD):c.468C>T (p.Ala156=)
NM_206965.2(FTCD):c.469G>A (p.Asp157Asn) rs532226691
NM_206965.2(FTCD):c.530G>A (p.Gly177Glu) rs760709342
NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)
NM_206965.2(FTCD):c.636+5C>T
NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)
NM_206965.2(FTCD):c.661G>A (p.Gly221Ser)
NM_206965.2(FTCD):c.712C>A (p.Leu238Ile)
NM_206965.2(FTCD):c.862_864del (p.Lys288del) rs1321726682
NM_206965.2(FTCD):c.896G>C (p.Arg299Pro) rs119469015
NM_206965.2(FTCD):c.984G>C (p.Glu328Asp) rs982953507

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