ClinVar Miner

List of variants in gene LOXHD1 studied for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 504
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HGVS dbSNP gnomAD frequency
NM_001384474.1(LOXHD1):c.4096-59A>G rs436433 0.97854
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly) rs1893566 0.75216
NM_001384474.1(LOXHD1):c.4530+107A>G rs1450425 0.66249
NM_001384474.1(LOXHD1):c.4530+25C>T rs59252058 0.30760
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val) rs1377016 0.30620
NM_001384474.1(LOXHD1):c.2048-102A>G rs1824682 0.27202
NM_001384474.1(LOXHD1):c.1654+69C>T rs12606558 0.26319
NM_001384474.1(LOXHD1):c.1135-70C>A rs12608365 0.25114
NM_001384474.1(LOXHD1):c.6183-11del rs143514947 0.23567
NM_001384474.1(LOXHD1):c.-102G>A rs34951935 0.14627
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_001384474.1(LOXHD1):c.4740+21G>A rs12604163 0.06997
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_001384474.1(LOXHD1):c.5878+60A>G rs60852510 0.05517
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His) rs74316327 0.04745
NM_001384474.1(LOXHD1):c.4531-19C>T rs117403100 0.02599
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=) rs75949023 0.00656
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=) rs114974101 0.00548
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_001384474.1(LOXHD1):c.*96G>A rs569671846 0.00415
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=) rs115658952 0.00271
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_001384474.1(LOXHD1):c.*124A>G rs144543819 0.00185
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=) rs180858375 0.00160
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5399+6T>C rs374607583 0.00083
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln) rs374728484 0.00073
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_001384474.1(LOXHD1):c.5693-8C>A rs544020946 0.00053
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=) rs111493023 0.00041
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=) rs527820569 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.6731C>T (p.Thr2244Ile) rs561740845 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00034
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=) rs924829697 0.00032
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp) rs200819355 0.00030
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643 0.00026
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662 0.00025
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_001384474.1(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860 0.00024
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00024
NM_001384474.1(LOXHD1):c.*19C>T rs778387862 0.00023
NM_001384474.1(LOXHD1):c.*73A>T rs748582582 0.00023
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3924C>T (p.Tyr1308=) rs184966970 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.4877-15C>T rs138060208 0.00021
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_001384474.1(LOXHD1):c.3013A>C (p.Asn1005His) rs552955487 0.00019
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=) rs185604776 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00017
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00017
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=) rs571456548 0.00017
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922 0.00016
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513 0.00016
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=) rs559560065 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) rs958951917 0.00015
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=) rs764655234 0.00015
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_001384474.1(LOXHD1):c.1303G>A (p.Asp435Asn) rs561064266 0.00013
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=) rs487706 0.00013
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=) rs376705239 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00013
NM_001384474.1(LOXHD1):c.3236A>G (p.Tyr1079Cys) rs367863703 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00011
NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro) rs547733414 0.00011
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=) rs141514234 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) rs771007568 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu) rs776769626 0.00009
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=) rs1030153414 0.00009
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=) rs112969644 0.00009
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=) rs1444868169 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_001384474.1(LOXHD1):c.2327G>A (p.Arg776His) rs373559161 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001384474.1(LOXHD1):c.*94T>C rs181233520 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_001384474.1(LOXHD1):c.3165C>T (p.Gly1055=) rs768431469 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978 0.00006
NM_001384474.1(LOXHD1):c.4376-2A>G rs886043616 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4389G>A (p.Ser1463=) rs375146333 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5772G>A (p.Ser1924=) rs375400056 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg) rs778228882 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu) rs763915229 0.00006
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=) rs748419853 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_001384474.1(LOXHD1):c.1432-9T>C rs1197933940 0.00004
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_001384474.1(LOXHD1):c.1883G>A (p.Gly628Asp) rs138530758 0.00004
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=) rs371762941 0.00004
NM_001384474.1(LOXHD1):c.2227A>G (p.Thr743Ala) rs759325484 0.00004
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00004
NM_001384474.1(LOXHD1):c.246-14C>T rs139812523 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953 0.00004
NM_001384474.1(LOXHD1):c.3515-13A>G rs545297878 0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met) rs113591161 0.00004
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286 0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338 0.00004
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=) rs763569894 0.00004
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) rs1167683873 0.00004
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=) rs773969803 0.00004
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=) rs574598048 0.00004
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp) rs199838861 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=) rs200328459 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=) rs981453947 0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2174A>G (p.Asn725Ser) rs141137527 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.2841C>T (p.Asp947=) rs761010290 0.00003
NM_001384474.1(LOXHD1):c.2851G>A (p.Glu951Lys) rs138190875 0.00003
NM_001384474.1(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.3847G>A (p.Glu1283Lys) rs373541883 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666 0.00003
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys) rs185142131 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=) rs149705118 0.00003
NM_001384474.1(LOXHD1):c.5929C>T (p.Arg1977Cys) rs886053824 0.00003
NM_001384474.1(LOXHD1):c.5931C>T (p.Arg1977=) rs748789925 0.00003
NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser) rs1005361609 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 0.00003
NM_001384474.1(LOXHD1):c.760-2del rs770408532 0.00003
NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu) rs755819004 0.00002
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser) rs556312555 0.00002
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786 0.00002
NM_001384474.1(LOXHD1):c.2237T>C (p.Ile746Thr) rs1230156672 0.00002
NM_001384474.1(LOXHD1):c.245+5G>A rs374277176 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3015C>T (p.Asn1005=) rs534756824 0.00002
NM_001384474.1(LOXHD1):c.3170G>A (p.Arg1057Gln) rs1275821062 0.00002
NM_001384474.1(LOXHD1):c.329T>C (p.Ile110Thr) rs556403714 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_001384474.1(LOXHD1):c.4481G>A (p.Arg1494Gln) rs949457669 0.00002
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=) rs531191015 0.00002
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) rs922663658 0.00002
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys) rs201536647 0.00002
NM_001384474.1(LOXHD1):c.5771C>T (p.Ser1924Leu) rs886053825 0.00002
NM_001384474.1(LOXHD1):c.611-8G>A rs748870133 0.00002
NM_001384474.1(LOXHD1):c.6170G>C (p.Arg2057Pro) rs939845241 0.00002
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=) rs1238383222 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6378G>A (p.Lys2126=) rs876657498 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu) rs950165733 0.00002
NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) rs909435840 0.00002
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=) rs1032456776 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1135-13C>T rs1171811821 0.00001
NM_001384474.1(LOXHD1):c.141G>T (p.Val47=) rs749402939 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1500T>C (p.Ser500=) rs886053838 0.00001
NM_001384474.1(LOXHD1):c.1832C>T (p.Ser611Phe) rs1149438 0.00001
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=) rs918348196 0.00001
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=) rs751871989 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2047+15T>A rs1048096626 0.00001
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=) rs1017933129 0.00001
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu) rs1008856721 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.2438-9C>A rs886053834 0.00001
NM_001384474.1(LOXHD1):c.246-2A>G rs763062406 0.00001
NM_001384474.1(LOXHD1):c.246-5T>C rs1453735142 0.00001
NM_001384474.1(LOXHD1):c.2516A>T (p.Tyr839Phe) rs752014328 0.00001
NM_001384474.1(LOXHD1):c.2648C>T (p.Thr883Met) rs186315227 0.00001
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=) rs568152703 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2704G>C (p.Val902Leu) rs756960512 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.2882A>G (p.Glu961Gly) rs1023902108 0.00001
NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile) rs1485784156 0.00001
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter) rs963520367 0.00001
NM_001384474.1(LOXHD1):c.3146A>G (p.Glu1049Gly) rs767265152 0.00001
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met) rs555210209 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229 0.00001
NM_001384474.1(LOXHD1):c.3195C>T (p.Ser1065=) rs886053830 0.00001
NM_001384474.1(LOXHD1):c.3275G>A (p.Arg1092His) rs757280331 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=) rs997622169 0.00001
NM_001384474.1(LOXHD1):c.3597C>G (p.Leu1199=) rs886053829 0.00001
NM_001384474.1(LOXHD1):c.3648A>G (p.Thr1216=) rs886053828 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.391A>G (p.Met131Val) rs769960235 0.00001
NM_001384474.1(LOXHD1):c.4239C>T (p.Cys1413=) rs886053827 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051 0.00001
NM_001384474.1(LOXHD1):c.4531-2A>G rs951333133 0.00001
NM_001384474.1(LOXHD1):c.4531-9G>A rs1409319193 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His) rs1293854417 0.00001
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs) rs1598914701 0.00001
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=) rs976758061 0.00001
NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) rs960741408 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001384474.1(LOXHD1):c.5005G>C (p.Gly1669Arg) rs1169003694 0.00001
NM_001384474.1(LOXHD1):c.5047G>A (p.Val1683Ile) rs571616553 0.00001
NM_001384474.1(LOXHD1):c.5085+1G>T rs1418245706 0.00001
NM_001384474.1(LOXHD1):c.511+13G>C rs1265165427 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr) rs1433984656 0.00001
NM_001384474.1(LOXHD1):c.5722A>G (p.Ile1908Val) rs781097312 0.00001
NM_001384474.1(LOXHD1):c.572A>G (p.Asp191Gly) rs886053842 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.580A>T (p.Ile194Phe) rs886053841 0.00001
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=) rs1402378599 0.00001
NM_001384474.1(LOXHD1):c.5T>C (p.Met2Thr) rs761525328 0.00001
NM_001384474.1(LOXHD1):c.611-7C>T rs916137735 0.00001
NM_001384474.1(LOXHD1):c.613G>A (p.Glu205Lys) rs958186869 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384474.1(LOXHD1):c.6458C>T (p.Pro2153Leu) rs1568061614 0.00001
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg) rs200198786 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His) rs886053822 0.00001
NM_001384474.1(LOXHD1):c.821C>T (p.Ala274Val) rs886053840 0.00001
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg) rs1279719056 0.00001
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)
NM_001384474.1(LOXHD1):c.1191G>T (p.Trp397Cys) rs201033524
NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) rs2144243196
NM_001384474.1(LOXHD1):c.1323C>A (p.Thr441=) rs1599035715
NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)
NM_001384474.1(LOXHD1):c.1380C>G (p.Leu460=) rs750264813
NM_001384474.1(LOXHD1):c.1459T>C (p.Tyr487His) rs886053839
NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)
NM_001384474.1(LOXHD1):c.1519-2A>T
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp) rs2144147870
NM_001384474.1(LOXHD1):c.1680C>T (p.Cys560=) rs2037927966
NM_001384474.1(LOXHD1):c.1714A>C (p.Asn572His) rs886053837
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met) rs747842788
NM_001384474.1(LOXHD1):c.1788A>G (p.Thr596=) rs368683058
NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln)
NM_001384474.1(LOXHD1):c.1873G>A (p.Asp625Asn) rs2063664738
NM_001384474.1(LOXHD1):c.1875T>C (p.Asp625=) rs886053836
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)
NM_001384474.1(LOXHD1):c.197C>T (p.Thr66Met) rs199536893
NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)
NM_001384474.1(LOXHD1):c.2096G>T (p.Ser699Ile) rs755207410
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2386G>A (p.Gly796Arg) rs886053835
NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)
NM_001384474.1(LOXHD1):c.2468G>C (p.Gly823Ala) rs886053833
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.2598+1G>A
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2708T>C (p.Val903Ala) rs375940400
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=) rs552637512
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro) rs140904207
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) rs2037495535
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter) rs548893604
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2907G>A (p.Glu969=) rs886053831
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) rs974766727
NM_001384474.1(LOXHD1):c.3061+1G>T rs537227442
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.3268C>T (p.Arg1090Trp)
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp) rs2037387758
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.3350+1G>A rs1301706601
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) rs2143824066
NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.3619G>T (p.Gly1207Ter)
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861
NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)
NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)
NM_001384474.1(LOXHD1):c.3914-3C>T rs2036407024
NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter) rs184966970
NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4095+1G>A rs1280052681
NM_001384474.1(LOXHD1):c.4096-1G>C rs749861944
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4136G>A (p.Gly1379Asp) rs756242236
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser) rs2144278857
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) rs2036157162
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=) rs2036156768
NM_001384474.1(LOXHD1):c.4354_4357del (p.Lys1451_Glu1452insTer)
NM_001384474.1(LOXHD1):c.4375+1G>T rs2036150181
NM_001384474.1(LOXHD1):c.4477G>T (p.Glu1493Ter) rs1166673793
NM_001384474.1(LOXHD1):c.4519G>A (p.Glu1507Lys) rs752123459
NM_001384474.1(LOXHD1):c.4531-120G>A rs11660036
NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)
NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)
NM_001384474.1(LOXHD1):c.4690C>T (p.Leu1564Phe) rs573600473
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs) rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
NM_001384474.1(LOXHD1):c.4740+1G>A rs2144167172
NM_001384474.1(LOXHD1):c.4743G>A (p.Glu1581=) rs886053826
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998
NM_001384474.1(LOXHD1):c.4843G>A (p.Gly1615Arg) rs768835732
NM_001384474.1(LOXHD1):c.486_487delinsGG (p.Ser162_Phe163delinsArgVal)
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr) rs200490958
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs) rs1555669048
NM_001384474.1(LOXHD1):c.5272G>A (p.Val1758Ile) rs535485519
NM_001384474.1(LOXHD1):c.5272G>T (p.Val1758Phe) rs535485519
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)
NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)
NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)
NM_001384474.1(LOXHD1):c.548T>C (p.Val183Ala) rs2038617630
NM_001384474.1(LOXHD1):c.5498C>G (p.Pro1833Arg) rs772058659
NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)
NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)
NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)
NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu) rs781097312
NM_001384474.1(LOXHD1):c.5891G>T (p.Gly1964Val) rs771725391
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)
NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)
NM_001384474.1(LOXHD1):c.6050-14C>T rs886053823
NM_001384474.1(LOXHD1):c.6050-7A>G rs907689730
NM_001384474.1(LOXHD1):c.6071del (p.Thr2024fs) rs2032939837
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs) rs1442485603
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) rs878853231
NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)
NM_001384474.1(LOXHD1):c.6182+1G>T rs200375658
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6342-1G>A
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) rs2032151816
NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) rs1434725624
NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) rs2143422217
NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=) rs528843705
NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366
NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro) rs753209859
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381
NM_001384474.1(LOXHD1):c.759+5G>A rs2144311627
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter) rs886043441
NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]

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