ClinVar Miner

List of variants in gene OCA2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1141
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1636+78T>C rs4778218 0.87279
NM_000275.3(OCA2):c.2244+25C>G rs7175046 0.78077
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_000275.3(OCA2):c.2079+126A>G rs2594928 0.63402
NM_000275.3(OCA2):c.1785-47A>G rs7170989 0.60954
NM_000275.3(OCA2):c.1951+109A>G rs7173419 0.60106
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_000275.3(OCA2):c.1784+161C>T rs11638265 0.51661
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_000275.3(OCA2):c.1785-293C>T rs9920172 0.50954
NM_000275.3(OCA2):c.1364+113G>A rs1900758 0.49607
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_000275.3(OCA2):c.1952-209_1952-208insA rs71414521 0.40655
NM_000275.3(OCA2):c.2338+179A>G rs8030800 0.35599
NM_000275.3(OCA2):c.2338+75T>C rs8025804 0.35589
NM_000275.3(OCA2):c.2244+127G>A rs12594397 0.34397
NM_000275.3(OCA2):c.2079+145T>C rs3751651 0.22696
NM_000275.3(OCA2):c.2338+207C>T rs1874841 0.22349
NM_000275.3(OCA2):c.1364+26A>G rs1800410 0.20403
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_000275.3(OCA2):c.2432+183G>A rs12592271 0.19894
NM_000275.3(OCA2):c.1952-270A>T rs12440216 0.18081
NM_000275.3(OCA2):c.1842+262G>A rs728404 0.14255
NM_000275.3(OCA2):c.1784+109G>T rs12439067 0.11834
NM_000275.3(OCA2):c.2245-221C>T rs13313425 0.11508
NM_000275.3(OCA2):c.326+231C>G rs7169513 0.10520
NM_000275.3(OCA2):c.573+149G>A rs28546555 0.10500
NM_000275.3(OCA2):c.326+210A>G rs972335 0.10362
NM_000275.3(OCA2):c.1044+59T>C rs4640131 0.10238
NM_000275.3(OCA2):c.2339-128C>T rs74005248 0.09847
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_000275.3(OCA2):c.2244+299G>C rs116180585 0.07571
NM_000275.3(OCA2):c.2244+259del rs141015379 0.07570
NM_000275.3(OCA2):c.891-234G>A rs12438490 0.07200
NM_000275.3(OCA2):c.1117-300A>G rs16950699 0.06690
NM_000275.3(OCA2):c.326+151C>T rs972334 0.06244
NM_000275.3(OCA2):c.1951+45G>C rs17566952 0.05987
NM_000275.3(OCA2):c.327-145A>G rs2290100 0.05618
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416 0.05476
NM_000275.3(OCA2):c.-21-129G>A rs56082644 0.05421
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_000275.3(OCA2):c.1784+71G>A rs41276934 0.04722
NM_000275.3(OCA2):c.2140-183A>G rs75834462 0.04715
NM_000275.3(OCA2):c.1784+93G>A rs45495598 0.04322
NM_000275.3(OCA2):c.2244+18A>G rs41304383 0.03776
NM_000275.3(OCA2):c.574-39T>C rs41534647 0.03216
NM_000275.3(OCA2):c.-21-327T>C rs146339372 0.01829
NM_000275.3(OCA2):c.1952-16A>G rs113151152 0.01792
NM_000275.3(OCA2):c.2244+279A>G rs74608843 0.01696
NM_000275.3(OCA2):c.2244+210C>T rs76599941 0.01687
NM_000275.3(OCA2):c.2140-134C>T rs77074895 0.01684
NM_000275.3(OCA2):c.2244+163T>C rs41313525 0.01684
NM_000275.3(OCA2):c.2140-294C>T rs77260304 0.01683
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) rs1800417 0.01681
NM_000275.3(OCA2):c.2244+198dup rs111703140 0.01677
NM_000275.3(OCA2):c.2139+106T>C rs113089488 0.01676
NM_000275.3(OCA2):c.2139+22A>T rs112277343 0.01676
NM_000275.3(OCA2):c.2139+111A>G rs113666932 0.01675
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414 0.01432
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465 0.00876
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947 0.00803
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_000275.3(OCA2):c.1842+17C>T rs147311864 0.00751
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000275.3(OCA2):c.574-18C>T rs149992727 0.00559
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000275.3(OCA2):c.2500G>A (p.Val834Met) rs34704703 0.00441
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389 0.00395
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_000275.3(OCA2):c.126C>T (p.Ala42=) rs141135991 0.00362
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_000275.3(OCA2):c.365C>T (p.Thr122Ile) rs34385677 0.00249
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000275.3(OCA2):c.1374G>A (p.Glu458=) rs141627675 0.00174
NM_000275.3(OCA2):c.711G>A (p.Val237=) rs144011656 0.00116
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000275.3(OCA2):c.678G>A (p.Thr226=) rs143734809 0.00108
NM_000275.3(OCA2):c.647-4C>T rs200183522 0.00091
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000275.3(OCA2):c.*1T>C rs138228425 0.00081
NM_000275.3(OCA2):c.1020C>T (p.Gly340=) rs74695474 0.00081
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000275.3(OCA2):c.970C>T (p.Arg324Cys) rs146795884 0.00056
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_000275.3(OCA2):c.1365-9T>C rs187271801 0.00049
NM_000275.3(OCA2):c.954G>A (p.Met318Ile) rs529219961 0.00048
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00044
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00043
NM_000275.3(OCA2):c.751G>A (p.Val251Met) rs147432138 0.00038
NM_000275.3(OCA2):c.963G>A (p.Gln321=) rs140492425 0.00033
NM_000275.3(OCA2):c.1364+4C>T rs1800409 0.00032
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_000275.3(OCA2):c.1527T>C (p.Thr509=) rs145762147 0.00030
NM_000275.3(OCA2):c.37G>A (p.Gly13Ser) rs201554429 0.00029
NM_000275.3(OCA2):c.1240-18C>G rs199814614 0.00028
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923 0.00026
NM_000275.3(OCA2):c.1503+7A>T rs199875420 0.00026
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000275.3(OCA2):c.2061G>A (p.Ala687=) rs138335119 0.00024
NM_000275.3(OCA2):c.29G>A (p.Arg10Gln) rs199752361 0.00024
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167 0.00023
NM_000275.3(OCA2):c.647-3G>A rs572955525 0.00023
NM_000275.3(OCA2):c.1717C>T (p.Arg573Cys) rs140556122 0.00022
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys) rs141611162 0.00021
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_000275.3(OCA2):c.69C>T (p.Ser23=) rs138611712 0.00021
NM_000275.3(OCA2):c.84C>T (p.Leu28=) rs141803386 0.00021
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys) rs148066812 0.00019
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000275.3(OCA2):c.36C>T (p.Pro12=) rs566842751 0.00018
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000275.3(OCA2):c.1519G>A (p.Gly507Arg) rs138606284 0.00016
NM_000275.3(OCA2):c.232C>T (p.His78Tyr) rs531777637 0.00016
NM_000275.3(OCA2):c.515+10C>G rs776088912 0.00015
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_000275.3(OCA2):c.1297G>A (p.Ala433Thr) rs749410903 0.00014
NM_000275.3(OCA2):c.1364G>A (p.Arg455Lys) rs139853866 0.00014
NM_000275.3(OCA2):c.1401C>A (p.Val467=) rs367772807 0.00014
NM_000275.3(OCA2):c.1688C>T (p.Pro563Leu) rs201904219 0.00014
NM_000275.3(OCA2):c.1785-17C>T rs368420440 0.00014
NM_000275.3(OCA2):c.2497G>A (p.Val833Met) rs200396611 0.00014
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997 0.00014
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr) rs34141095 0.00011
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) rs200692258 0.00011
NM_000275.3(OCA2):c.2502G>T (p.Val834=) rs201569748 0.00011
NM_000275.3(OCA2):c.371A>C (p.Glu124Ala) rs368106059 0.00011
NM_000275.3(OCA2):c.407G>A (p.Arg136Gln) rs35764631 0.00011
NM_000275.3(OCA2):c.1047C>T (p.Ile349=) rs767182132 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000275.3(OCA2):c.600A>T (p.Gln200His) rs139562520 0.00010
NM_000275.3(OCA2):c.1116+16C>T rs373347079 0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.1528G>A (p.Ala510Thr) rs201590781 0.00009
NM_000275.3(OCA2):c.2088A>G (p.Ala696=) rs781379027 0.00009
NM_000275.3(OCA2):c.2205G>A (p.Ala735=) rs146641083 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2250C>T (p.Pro750=) rs745593965 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000275.3(OCA2):c.2433-19A>G rs370954296 0.00009
NM_000275.3(OCA2):c.972C>T (p.Arg324=) rs368832716 0.00009
NM_000275.3(OCA2):c.1503+5G>A rs368124046 0.00008
NM_000275.3(OCA2):c.1678C>T (p.Arg560Cys) rs147905292 0.00007
NM_000275.3(OCA2):c.2169C>T (p.Ala723=) rs370020051 0.00007
NM_000275.3(OCA2):c.2297C>T (p.Pro766Leu) rs563235254 0.00007
NM_000275.3(OCA2):c.688G>T (p.Val230Leu) rs148659233 0.00007
NM_000275.3(OCA2):c.696G>C (p.Leu232=) rs374539905 0.00007
NM_000275.3(OCA2):c.1021G>A (p.Val341Ile) rs368159473 0.00006
NM_000275.3(OCA2):c.1221C>T (p.Phe407=) rs370349105 0.00006
NM_000275.3(OCA2):c.1262G>A (p.Arg421Gln) rs369322694 0.00006
NM_000275.3(OCA2):c.1430T>C (p.Ile477Thr) rs148413474 0.00006
NM_000275.3(OCA2):c.169G>A (p.Gly57Arg) rs372901106 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000275.3(OCA2):c.41C>T (p.Ala14Val) rs763734477 0.00006
NM_000275.3(OCA2):c.44C>T (p.Pro15Leu) rs201291702 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779 0.00006
NM_000275.3(OCA2):c.797G>A (p.Arg266Gln) rs774460527 0.00006
NM_000275.3(OCA2):c.914G>A (p.Arg305Gln) rs141603023 0.00006
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp) rs372899234 0.00005
NM_000275.3(OCA2):c.1656C>T (p.His552=) rs777131634 0.00005
NM_000275.3(OCA2):c.1843C>T (p.His615Tyr) rs755768280 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000275.3(OCA2):c.2233A>G (p.Thr745Ala) rs150990900 0.00005
NM_000275.3(OCA2):c.2501T>A (p.Val834Glu) rs759396151 0.00005
NM_000275.3(OCA2):c.40G>A (p.Ala14Thr) rs368928996 0.00005
NM_000275.3(OCA2):c.793C>T (p.Arg265Trp) rs750298814 0.00005
NM_000275.3(OCA2):c.897G>A (p.Thr299=) rs149191701 0.00005
NM_000275.3(OCA2):c.100G>A (p.Gly34Ser) rs367553582 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.1201T>C (p.Phe401Leu) rs145880356 0.00004
NM_000275.3(OCA2):c.1234G>A (p.Val412Ile) rs373759416 0.00004
NM_000275.3(OCA2):c.1273A>G (p.Met425Val) rs201484597 0.00004
NM_000275.3(OCA2):c.1452C>T (p.Ile484=) rs771155994 0.00004
NM_000275.3(OCA2):c.1574C>T (p.Pro525Leu) rs754777148 0.00004
NM_000275.3(OCA2):c.158G>A (p.Arg53Lys) rs1034863880 0.00004
NM_000275.3(OCA2):c.1647C>T (p.His549=) rs555501953 0.00004
NM_000275.3(OCA2):c.1698C>T (p.Arg566=) rs752998822 0.00004
NM_000275.3(OCA2):c.1858G>A (p.Gly620Arg) rs746102630 0.00004
NM_000275.3(OCA2):c.1870G>A (p.Ala624Thr) rs373739951 0.00004
NM_000275.3(OCA2):c.1897G>A (p.Val633Ile) rs1372200062 0.00004
NM_000275.3(OCA2):c.1952-18C>A rs772841937 0.00004
NM_000275.3(OCA2):c.2245-8C>G rs768263906 0.00004
NM_000275.3(OCA2):c.2338+1G>T rs770635415 0.00004
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr) rs1026811783 0.00004
NM_000275.3(OCA2):c.530_532del (p.Trp177del) rs763726841 0.00004
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231 0.00004
NM_000275.3(OCA2):c.891-17G>A rs769320631 0.00004
NM_000275.3(OCA2):c.896C>T (p.Thr299Met) rs746768883 0.00004
NM_000275.3(OCA2):c.941T>G (p.Val314Gly) rs762262964 0.00004
NM_000275.3(OCA2):c.999C>T (p.Ile333=) rs376454436 0.00004
NM_000275.3(OCA2):c.99C>T (p.Ala33=) rs746473576 0.00004
NM_000275.3(OCA2):c.1044+5C>T rs372130852 0.00003
NM_000275.3(OCA2):c.1048G>A (p.Val350Met) rs533478642 0.00003
NM_000275.3(OCA2):c.1117-20A>G rs749747648 0.00003
NM_000275.3(OCA2):c.1182+19G>A rs199706303 0.00003
NM_000275.3(OCA2):c.1240-9T>C rs375750722 0.00003
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.1364+20C>T rs201312161 0.00003
NM_000275.3(OCA2):c.1575G>A (p.Pro525=) rs151046206 0.00003
NM_000275.3(OCA2):c.157del (p.Arg53fs) rs758894409 0.00003
NM_000275.3(OCA2):c.1756C>T (p.Leu586Phe) rs918693810 0.00003
NM_000275.3(OCA2):c.1843-15G>A rs766094007 0.00003
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs) rs746307353 0.00003
NM_000275.3(OCA2):c.21C>T (p.Asp7=) rs369625319 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000275.3(OCA2):c.2245-18T>C rs199716694 0.00003
NM_000275.3(OCA2):c.2289G>T (p.Leu763=) rs773827519 0.00003
NM_000275.3(OCA2):c.2358C>T (p.Gly786=) rs144863864 0.00003
NM_000275.3(OCA2):c.2514T>C (p.Asn838=) rs373301562 0.00003
NM_000275.3(OCA2):c.498C>T (p.Leu166=) rs371617480 0.00003
NM_000275.3(OCA2):c.573+3G>A rs751829678 0.00003
NM_000275.3(OCA2):c.65C>T (p.Thr22Met) rs779114740 0.00003
NM_000275.3(OCA2):c.1044+2T>C rs1368074390 0.00002
NM_000275.3(OCA2):c.1118G>T (p.Arg373Ile) rs1444457881 0.00002
NM_000275.3(OCA2):c.111G>A (p.Arg37=) rs41309258 0.00002
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn) rs769550106 0.00002
NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) rs376863406 0.00002
NM_000275.3(OCA2):c.1281C>T (p.Ile427=) rs772108982 0.00002
NM_000275.3(OCA2):c.1298C>T (p.Ala433Val) rs780239785 0.00002
NM_000275.3(OCA2):c.1365-10T>C rs745738408 0.00002
NM_000275.3(OCA2):c.1399G>A (p.Val467Ile) rs750011165 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.1743A>C (p.Ala581=) rs1305428994 0.00002
NM_000275.3(OCA2):c.1761C>T (p.Ala587=) rs776611244 0.00002
NM_000275.3(OCA2):c.178T>C (p.Ser60Pro) rs1482513844 0.00002
NM_000275.3(OCA2):c.1850T>C (p.Ile617Thr) rs775588367 0.00002
NM_000275.3(OCA2):c.1881G>A (p.Leu627=) rs778416831 0.00002
NM_000275.3(OCA2):c.2060C>T (p.Ala687Val) rs773980859 0.00002
NM_000275.3(OCA2):c.2160C>T (p.Arg720=) rs201475699 0.00002
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141 0.00002
NM_000275.3(OCA2):c.2290C>G (p.Pro764Ala) rs772775471 0.00002
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839 0.00002
NM_000275.3(OCA2):c.2354T>C (p.Ile785Thr) rs148153776 0.00002
NM_000275.3(OCA2):c.2432+17T>G rs754383604 0.00002
NM_000275.3(OCA2):c.257G>C (p.Ser86Thr) rs1024467465 0.00002
NM_000275.3(OCA2):c.440dup (p.Ser148fs) rs1057518192 0.00002
NM_000275.3(OCA2):c.540C>T (p.Val180=) rs756163236 0.00002
NM_000275.3(OCA2):c.565_566del (p.Leu189fs) rs1312967591 0.00002
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026 0.00002
NM_000275.3(OCA2):c.748A>G (p.Ile250Val) rs555796333 0.00002
NM_000275.3(OCA2):c.794G>A (p.Arg265Gln) rs567007076 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000275.3(OCA2):c.965A>G (p.Tyr322Cys) rs573678989 0.00002
NM_000275.3(OCA2):c.1000G>A (p.Ala334Thr) rs1456118236 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000275.3(OCA2):c.1014C>T (p.Leu338=) rs142591701 0.00001
NM_000275.3(OCA2):c.1016C>T (p.Ala339Val) rs747940330 0.00001
NM_000275.3(OCA2):c.1044+13C>T rs1013487670 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000275.3(OCA2):c.1083T>C (p.Leu361=) rs1164737873 0.00001
NM_000275.3(OCA2):c.1134T>C (p.His378=) rs752317540 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1212G>A (p.Thr404=) rs773802096 0.00001
NM_000275.3(OCA2):c.1246C>T (p.Arg416Trp) rs756482913 0.00001
NM_000275.3(OCA2):c.1302C>T (p.Ala434=) rs150020919 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025 0.00001
NM_000275.3(OCA2):c.1328T>C (p.Val443Ala) rs1325388159 0.00001
NM_000275.3(OCA2):c.1364+5G>A rs751956177 0.00001
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) rs748692597 0.00001
NM_000275.3(OCA2):c.1444A>C (p.Thr482Pro) rs2041233832 0.00001
NM_000275.3(OCA2):c.1484A>G (p.Asn495Ser) rs531606889 0.00001
NM_000275.3(OCA2):c.1503+9C>A rs959966239 0.00001
NM_000275.3(OCA2):c.1504-16C>T rs746616353 0.00001
NM_000275.3(OCA2):c.1518C>T (p.Ala506=) rs1306441561 0.00001
NM_000275.3(OCA2):c.1555del (p.Val519fs) rs765235945 0.00001
NM_000275.3(OCA2):c.1606C>A (p.Leu536Ile) rs1394413927 0.00001
NM_000275.3(OCA2):c.162G>A (p.Gly54=) rs1391198560 0.00001
NM_000275.3(OCA2):c.1637-16C>G rs751749354 0.00001
NM_000275.3(OCA2):c.1637-18G>A rs368865876 0.00001
NM_000275.3(OCA2):c.1644G>A (p.Lys548=) rs371550945 0.00001
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381 0.00001
NM_000275.3(OCA2):c.1715G>A (p.Arg572His) rs754265614 0.00001
NM_000275.3(OCA2):c.1718G>A (p.Arg573His) rs761217860 0.00001
NM_000275.3(OCA2):c.1758C>T (p.Leu586=) rs769393141 0.00001
NM_000275.3(OCA2):c.1784+15C>T rs1265534138 0.00001
NM_000275.3(OCA2):c.1784+5C>T rs748230308 0.00001
NM_000275.3(OCA2):c.180T>C (p.Ser60=) rs757834251 0.00001
NM_000275.3(OCA2):c.1842+1G>T rs387906240 0.00001
NM_000275.3(OCA2):c.1864C>T (p.Leu622=) rs543493041 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.1891G>A (p.Gly631Arg) rs1555440003 0.00001
NM_000275.3(OCA2):c.1951+15G>A rs776734962 0.00001
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) rs751822606 0.00001
NM_000275.3(OCA2):c.2073G>A (p.Leu691=) rs373962635 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2095C>A (p.His699Asn) rs150391476 0.00001
NM_000275.3(OCA2):c.2110G>T (p.Val704Phe) rs758611210 0.00001
NM_000275.3(OCA2):c.2123C>A (p.Thr708Asn) rs1335779460 0.00001
NM_000275.3(OCA2):c.2135del (p.Ile712fs) rs775008954 0.00001
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224 0.00001
NM_000275.3(OCA2):c.2154G>C (p.Glu718Asp) rs752419245 0.00001
NM_000275.3(OCA2):c.2196A>G (p.Ser732=) rs1436386882 0.00001
NM_000275.3(OCA2):c.2197G>C (p.Ala733Pro) rs1378080763 0.00001
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658 0.00001
NM_000275.3(OCA2):c.2245-1G>A rs1344047706 0.00001
NM_000275.3(OCA2):c.2273A>T (p.Asp758Val) rs752888326 0.00001
NM_000275.3(OCA2):c.2275C>T (p.Pro759Ser) rs765361091 0.00001
NM_000275.3(OCA2):c.2292C>T (p.Pro764=) rs748737226 0.00001
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.2331C>T (p.Cys777=) rs1376067968 0.00001
NM_000275.3(OCA2):c.2361G>A (p.Ala787=) rs763462686 0.00001
NM_000275.3(OCA2):c.2431A>G (p.Arg811Gly) rs1342026238 0.00001
NM_000275.3(OCA2):c.2473A>T (p.Met825Leu) rs763881975 0.00001
NM_000275.3(OCA2):c.2506G>A (p.Gly836Arg) rs770934507 0.00001
NM_000275.3(OCA2):c.286G>A (p.Glu96Lys) rs372184971 0.00001
NM_000275.3(OCA2):c.326+13C>T rs2042920037 0.00001
NM_000275.3(OCA2):c.390C>T (p.Ser130=) rs2042807114 0.00001
NM_000275.3(OCA2):c.459C>G (p.Ser153=) rs2042803933 0.00001
NM_000275.3(OCA2):c.500G>A (p.Arg167His) rs151118268 0.00001
NM_000275.3(OCA2):c.506C>T (p.Ser169Phe) rs1188916762 0.00001
NM_000275.3(OCA2):c.517C>T (p.Arg173Cys) rs538576672 0.00001
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) rs1158730024 0.00001
NM_000275.3(OCA2):c.573+5G>A rs1432628513 0.00001
NM_000275.3(OCA2):c.58C>T (p.Leu20=) rs748332005 0.00001
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142 0.00001
NM_000275.3(OCA2):c.598C>G (p.Gln200Glu) rs769681202 0.00001
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala) rs777893926 0.00001
NM_000275.3(OCA2):c.637G>A (p.Glu213Lys) rs2042624978 0.00001
NM_000275.3(OCA2):c.649G>A (p.Val217Met) rs773252077 0.00001
NM_000275.3(OCA2):c.70G>A (p.Val24Met) rs766829294 0.00001
NM_000275.3(OCA2):c.723G>A (p.Pro241=) rs771974833 0.00001
NM_000275.3(OCA2):c.750C>T (p.Ile250=) rs377144100 0.00001
NM_000275.3(OCA2):c.807+10A>T rs770217869 0.00001
NM_000275.3(OCA2):c.807+1G>T rs763219039 0.00001
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly) rs769408559 0.00001
NM_000275.3(OCA2):c.891-11T>G rs1446145401 0.00001
NM_000275.3(OCA2):c.938C>A (p.Ala313Asp) rs1030027107 0.00001
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser) rs201481836 0.00001
NM_000275.3(OCA2):c.94G>T (p.Val32Leu) rs1321894065 0.00001
NM_000275.3(OCA2):c.971G>A (p.Arg324His) rs1199627951 0.00001
GRCh37/hg19 15q12-13.1(chr15:28019085-28334324)x1
GRCh37/hg19 15q12-13.1(chr15:28090172-28262709)x1
GRCh37/hg19 15q13.1(chr15:28118372-28304810)x1
GRCh37/hg19 15q13.1(chr15:28341659-28351299)x1
GRCh37/hg19 15q13.1(chr15:28341659-28353389)x1
NC_000015.10:g.27955214_27955217del rs2140668412
NC_000015.9:g.(?_28000534)_(28000638_?)dup
NC_000015.9:g.(?_28090085)_(28096641_?)del
NC_000015.9:g.(?_28090085)_(28277329_?)dup
NC_000015.9:g.(?_28171253)_(28171420_?)del
NC_000015.9:g.(?_28171253)_(28171420_?)dup
NC_000015.9:g.(?_28171253)_(28231809_?)del
NC_000015.9:g.(?_28171253)_(28235813_?)del
NC_000015.9:g.(?_28171253)_(28277329_?)del
NC_000015.9:g.(?_28171253)_(28277329_?)dup
NC_000015.9:g.(?_28200284)_(28200381_?)del
NC_000015.9:g.(?_28202714)_(28211988_?)dup
NC_000015.9:g.(?_28211816)_(28211988_?)del
NC_000015.9:g.(?_28211816)_(28235813_?)del
NC_000015.9:g.(?_28211816)_(28277329_?)del
NC_000015.9:g.(?_28228471)_(28228649_?)del
NC_000015.9:g.(?_28228471)_(28228649_?)dup
NC_000015.9:g.(?_28228471)_(28277329_?)dup
NC_000015.9:g.(?_28231713)_(28235813_?)del
NC_000015.9:g.(?_28234727)_(28234832_?)del
NC_000015.9:g.(?_28235702)_(28277329_?)del
NC_000015.9:g.(?_28259902)_(28261352_?)dup
NC_000015.9:g.(?_28263523)_(28263723_?)del
NC_000015.9:g.(?_28269971)_(28270068_?)del
NC_000015.9:g.(?_28326774)_(28327020_?)dup
NM_000275.3(OCA2):c.-21-5C>G rs1333200990
NM_000275.3(OCA2):c.1002G>A (p.Ala334=)
NM_000275.3(OCA2):c.1003A>G (p.Thr335Ala)
NM_000275.3(OCA2):c.1004C>T (p.Thr335Met)
NM_000275.3(OCA2):c.1005G>A (p.Thr335=) rs763586305
NM_000275.3(OCA2):c.1005G>T (p.Thr335=)
NM_000275.3(OCA2):c.1015G>A (p.Ala339Thr) rs148468031
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000275.3(OCA2):c.1016C>A (p.Ala339Glu) rs747940330
NM_000275.3(OCA2):c.1017G>A (p.Ala339=) rs939640240
NM_000275.3(OCA2):c.1017G>C (p.Ala339=)
NM_000275.3(OCA2):c.1027G>C (p.Ala343Pro)
NM_000275.3(OCA2):c.1029G>A (p.Ala343=)
NM_000275.3(OCA2):c.102C>T (p.Gly34=) rs2141897927
NM_000275.3(OCA2):c.1030C>T (p.Leu344=)
NM_000275.3(OCA2):c.1031T>C (p.Leu344Pro) rs1384647542
NM_000275.3(OCA2):c.1038A>C (p.Ile346=)
NM_000275.3(OCA2):c.1044+10A>T
NM_000275.3(OCA2):c.1044+13C>A
NM_000275.3(OCA2):c.1044+14C>T
NM_000275.3(OCA2):c.1044+20C>G
NM_000275.3(OCA2):c.1044+20C>T
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1045-16C>T
NM_000275.3(OCA2):c.1045-18T>C
NM_000275.3(OCA2):c.1045-19T>A
NM_000275.3(OCA2):c.1045-1G>T
NM_000275.3(OCA2):c.1045-2A>G
NM_000275.3(OCA2):c.1045-5del
NM_000275.3(OCA2):c.1045-7T>C rs2141019752
NM_000275.3(OCA2):c.1050G>T (p.Val350=) rs2141019600
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs) rs2041525028
NM_000275.3(OCA2):c.1059T>C (p.Thr353=)
NM_000275.3(OCA2):c.1064_1065delinsTA (p.Ala355Val)
NM_000275.3(OCA2):c.1068C>T (p.Ala356=)
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1076G>A (p.Gly359Asp) rs200398581
NM_000275.3(OCA2):c.1079C>T (p.Ser360Phe)
NM_000275.3(OCA2):c.107G>A (p.Arg36His) rs143429491
NM_000275.3(OCA2):c.107G>T (p.Arg36Leu) rs143429491
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
NM_000275.3(OCA2):c.1086AGCACTGGC[3] (p.Ala368_Val369insAlaLeuAla)
NM_000275.3(OCA2):c.1089A>G (p.Ala363=)
NM_000275.3(OCA2):c.1091del (p.Leu364fs)
NM_000275.3(OCA2):c.1114G>A (p.Asp372Asn)
NM_000275.3(OCA2):c.1116+13A>G
NM_000275.3(OCA2):c.1116+18C>T
NM_000275.3(OCA2):c.1116+2T>C rs748537823
NM_000275.3(OCA2):c.1116+3A>G
NM_000275.3(OCA2):c.1116+7del rs775758635
NM_000275.3(OCA2):c.1117-13G>A
NM_000275.3(OCA2):c.1117-14T>C
NM_000275.3(OCA2):c.1117-16T>G
NM_000275.3(OCA2):c.1117-1G>C
NM_000275.3(OCA2):c.1117-5T>C
NM_000275.3(OCA2):c.1117-9T>C
NM_000275.3(OCA2):c.1117-9del
NM_000275.3(OCA2):c.1119A>G (p.Arg373=)
NM_000275.3(OCA2):c.1120C>T (p.Pro374Ser)
NM_000275.3(OCA2):c.1131C>A (p.Thr377=)
NM_000275.3(OCA2):c.1137G>A (p.Val379=)
NM_000275.3(OCA2):c.1138G>A (p.Val380Met) rs41529845
NM_000275.3(OCA2):c.1138G>C (p.Val380Leu) rs41529845
NM_000275.3(OCA2):c.1143G>A (p.Glu381=)
NM_000275.3(OCA2):c.1158G>A (p.Glu386=)
NM_000275.3(OCA2):c.1158G>T (p.Glu386Asp)
NM_000275.3(OCA2):c.1161G>A (p.Thr387=)
NM_000275.3(OCA2):c.1161G>C (p.Thr387=)
NM_000275.3(OCA2):c.1163T>C (p.Leu388Pro)
NM_000275.3(OCA2):c.1174T>C (p.Phe392Leu)
NM_000275.3(OCA2):c.1182+15C>T
NM_000275.3(OCA2):c.1182+18C>G rs200890879
NM_000275.3(OCA2):c.1182+18C>T rs200890879
NM_000275.3(OCA2):c.1182+276dup rs3214781
NM_000275.3(OCA2):c.1182+9A>C
NM_000275.3(OCA2):c.1182+9del
NM_000275.3(OCA2):c.1183-10T>C
NM_000275.3(OCA2):c.1183-11T>C
NM_000275.3(OCA2):c.1183-18T>G
NM_000275.3(OCA2):c.1183-19CTT[2]
NM_000275.3(OCA2):c.1183-4_1183-3delinsGC rs2140989991
NM_000275.3(OCA2):c.1183-5_1183-4inv
NM_000275.3(OCA2):c.1183-6C>A rs2140990063
NM_000275.3(OCA2):c.1183-6C>T
NM_000275.3(OCA2):c.1183-7C>G
NM_000275.3(OCA2):c.1183-8C>T
NM_000275.3(OCA2):c.1183A>T (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1184T>C (p.Met395Thr)
NM_000275.3(OCA2):c.1205C>T (p.Ser402Leu)
NM_000275.3(OCA2):c.1206A>C (p.Ser402=)
NM_000275.3(OCA2):c.1213G>A (p.Gly405Arg)
NM_000275.3(OCA2):c.1228T>C (p.Cys410Arg)
NM_000275.3(OCA2):c.1228_1231del (p.Cys410fs)
NM_000275.3(OCA2):c.122del (p.Gly41fs) rs1407174563
NM_000275.3(OCA2):c.1230T>C (p.Cys410=)
NM_000275.3(OCA2):c.1239+14T>G
NM_000275.3(OCA2):c.1239+1G>C
NM_000275.3(OCA2):c.1239+1G>T
NM_000275.3(OCA2):c.1239+2T>A
NM_000275.3(OCA2):c.1239+8T>G
NM_000275.3(OCA2):c.1240-14G>A rs1466579231
NM_000275.3(OCA2):c.1240-16G>C
NM_000275.3(OCA2):c.1240-17T>C
NM_000275.3(OCA2):c.1240-1G>C
NM_000275.3(OCA2):c.1240-24CT[3] rs756829072
NM_000275.3(OCA2):c.1240-4C>T
NM_000275.3(OCA2):c.1240-5del
NM_000275.3(OCA2):c.1242A>C (p.Ala414=) rs1595764890
NM_000275.3(OCA2):c.1247G>A (p.Arg416Gln)
NM_000275.3(OCA2):c.1247G>C (p.Arg416Pro) rs750843354
NM_000275.3(OCA2):c.1253C>T (p.Ser418Phe)
NM_000275.3(OCA2):c.1255C>G (p.Arg419Gly)
NM_000275.3(OCA2):c.1258_1264del (p.Gly420fs) rs2140980232
NM_000275.3(OCA2):c.1262_1271del (p.Arg421fs)
NM_000275.3(OCA2):c.1263G>A (p.Arg421=)
NM_000275.3(OCA2):c.1266G>A (p.Val422=)
NM_000275.3(OCA2):c.1267T>C (p.Trp423Arg)
NM_000275.3(OCA2):c.1268G>A (p.Trp423Ter)
NM_000275.3(OCA2):c.1274T>C (p.Met425Thr)
NM_000275.3(OCA2):c.1275_1277del (p.Met425del) rs752510351
NM_000275.3(OCA2):c.1289G>A (p.Cys430Tyr) rs1189453897
NM_000275.3(OCA2):c.1296C>T (p.Ile432=)
NM_000275.3(OCA2):c.1306C>G (p.Leu436Val)
NM_000275.3(OCA2):c.1307del (p.Leu436fs)
NM_000275.3(OCA2):c.1317C>T (p.Phe439=)
NM_000275.3(OCA2):c.131del (p.Gly44fs) rs780625433
NM_000275.3(OCA2):c.1321G>A (p.Asp441Asn)
NM_000275.3(OCA2):c.1323C>T (p.Asp441=)
NM_000275.3(OCA2):c.1324A>G (p.Asn442Asp) rs1595764495
NM_000275.3(OCA2):c.1324_1326del (p.Asn442del) rs2140979313
NM_000275.3(OCA2):c.1335C>A (p.Thr445=) rs2140979150
NM_000275.3(OCA2):c.1335C>T (p.Thr445=)
NM_000275.3(OCA2):c.1346dup (p.Thr450fs) rs2140978976
NM_000275.3(OCA2):c.1349C>A (p.Thr450Lys)
NM_000275.3(OCA2):c.1350G>A (p.Thr450=) rs368781328
NM_000275.3(OCA2):c.1354G>C (p.Val452Leu) rs1444988470
NM_000275.3(OCA2):c.1355T>C (p.Val452Ala) rs2041303370
NM_000275.3(OCA2):c.1364+16C>T
NM_000275.3(OCA2):c.1364+18G>T rs376492129
NM_000275.3(OCA2):c.1364+6C>A rs2140978517
NM_000275.3(OCA2):c.1365-1G>A rs2140965742
NM_000275.3(OCA2):c.1378C>G (p.Leu460Val)
NM_000275.3(OCA2):c.1379T>C (p.Leu460Pro)
NM_000275.3(OCA2):c.1383C>T (p.Asn461=)
NM_000275.3(OCA2):c.1395_1399del (p.Arg465fs)
NM_000275.3(OCA2):c.1400T>A (p.Val467Asp) rs2140965404
NM_000275.3(OCA2):c.1404G>C (p.Leu468=)
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1429A>G (p.Ile477Val) rs1050639691
NM_000275.3(OCA2):c.1434A>G (p.Gly478=)
NM_000275.3(OCA2):c.1438G>C (p.Ala480Pro) rs765246177
NM_000275.3(OCA2):c.1440T>C (p.Ala480=)
NM_000275.3(OCA2):c.1443C>T (p.Ala481=)
NM_000275.3(OCA2):c.1449C>A (p.Ala483=)
NM_000275.3(OCA2):c.1449C>T (p.Ala483=)
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1454G>T (p.Gly485Val)
NM_000275.3(OCA2):c.1455G>A (p.Gly485=) rs1238112685
NM_000275.3(OCA2):c.1458C>T (p.Asp486=) rs2140964671
NM_000275.3(OCA2):c.1465A>T (p.Asn489Tyr) rs121918170
NM_000275.3(OCA2):c.1482C>T (p.Ser494=) rs2140964421
NM_000275.3(OCA2):c.1488A>T (p.Gln496His)
NM_000275.3(OCA2):c.1491G>C (p.Glu497Asp)
NM_000275.3(OCA2):c.1501_1502insGC (p.Met501fs)
NM_000275.3(OCA2):c.1503+14T>C
NM_000275.3(OCA2):c.1503+14del rs2041229225
NM_000275.3(OCA2):c.1503+1G>A
NM_000275.3(OCA2):c.1503+4C>T
NM_000275.3(OCA2):c.1504-13T>C
NM_000275.3(OCA2):c.1504-15C>T
NM_000275.3(OCA2):c.1504-17C>G
NM_000275.3(OCA2):c.1504-18C>T
NM_000275.3(OCA2):c.1504-2A>G rs752460023
NM_000275.3(OCA2):c.1504-320GTTT[2] rs138719690
NM_000275.3(OCA2):c.1504-8A>G
NM_000275.3(OCA2):c.1513T>G (p.Phe505Val)
NM_000275.3(OCA2):c.1514T>C (p.Phe505Ser)
NM_000275.3(OCA2):c.1515T>C (p.Phe505=)
NM_000275.3(OCA2):c.1529del (p.Ala510fs)
NM_000275.3(OCA2):c.1530A>G (p.Ala510=) rs2140826113
NM_000275.3(OCA2):c.1533C>T (p.His511=)
NM_000275.3(OCA2):c.1534A>G (p.Met512Val) rs1439320132
NM_000275.3(OCA2):c.1536G>A (p.Met512Ile) rs762173959
NM_000275.3(OCA2):c.1538dup (p.Ile514fs)
NM_000275.3(OCA2):c.153C>T (p.Cys51=)
NM_000275.3(OCA2):c.1541T>C (p.Ile514Thr)
NM_000275.3(OCA2):c.1545G>A (p.Gly515=)
NM_000275.3(OCA2):c.1556T>C (p.Val519Ala)
NM_000275.3(OCA2):c.1558C>T (p.Leu520Phe)
NM_000275.3(OCA2):c.155C>G (p.Pro52Arg) rs200885801
NM_000275.3(OCA2):c.1563G>C (p.Leu521=)
NM_000275.3(OCA2):c.1568G>A (p.Cys523Tyr) rs778609798
NM_000275.3(OCA2):c.156C>G (p.Pro52=)
NM_000275.3(OCA2):c.1579C>G (p.Leu527Val) rs2140825012
NM_000275.3(OCA2):c.157A>G (p.Arg53Gly)
NM_000275.3(OCA2):c.157A>T (p.Arg53Trp)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1584A>G (p.Arg528=)
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
NM_000275.3(OCA2):c.1599C>T (p.Asn533=) rs1595731896
NM_000275.3(OCA2):c.1603A>G (p.Lys535Glu)
NM_000275.3(OCA2):c.1611T>G (p.Tyr537Ter) rs2140824287
NM_000275.3(OCA2):c.1612A>G (p.Asn538Asp) rs1304719929
NM_000275.3(OCA2):c.1615_1621dup (p.Pro541fs)
NM_000275.3(OCA2):c.1626T>A (p.Ser542Arg)
NM_000275.3(OCA2):c.1629G>A (p.Glu543=)
NM_000275.3(OCA2):c.162G>C (p.Gly54=)
NM_000275.3(OCA2):c.1630A>G (p.Ile544Val) rs1172037395
NM_000275.3(OCA2):c.1631T>G (p.Ile544Ser) rs34141095
NM_000275.3(OCA2):c.1633G>A (p.Val545Ile) rs1381951592
NM_000275.3(OCA2):c.1636+13G>A
NM_000275.3(OCA2):c.1636+17C>T
NM_000275.3(OCA2):c.1636+1G>T
NM_000275.3(OCA2):c.1636+2T>A
NM_000275.3(OCA2):c.1636+2T>G
NM_000275.3(OCA2):c.1636+6T>G rs2140823543
NM_000275.3(OCA2):c.1636+8C>T
NM_000275.3(OCA2):c.1637-12C>G
NM_000275.3(OCA2):c.1637-13C>T
NM_000275.3(OCA2):c.1637-14T>A
NM_000275.3(OCA2):c.1637-17C>T
NM_000275.3(OCA2):c.1637-19C>T
NM_000275.3(OCA2):c.1637-3C>A
NM_000275.3(OCA2):c.1638A>G (p.Glu546=)
NM_000275.3(OCA2):c.163del (p.Ala55fs) rs1254334474
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1650G>A (p.Glu550=)
NM_000275.3(OCA2):c.1659C>T (p.Val553=)
NM_000275.3(OCA2):c.1664G>C (p.Arg555Pro) rs768169106
NM_000275.3(OCA2):c.1670C>T (p.Thr557Ile) rs775106432
NM_000275.3(OCA2):c.1677G>A (p.Gln559=)
NM_000275.3(OCA2):c.1679G>T (p.Arg560Leu) rs35110389
NM_000275.3(OCA2):c.1683C>T (p.Ile561=)
NM_000275.3(OCA2):c.1684A>C (p.Ser562Arg)
NM_000275.3(OCA2):c.168C>T (p.Ala56=)
NM_000275.3(OCA2):c.1697G>A (p.Arg566His)
NM_000275.3(OCA2):c.1705A>C (p.Thr569Pro) rs2140704912
NM_000275.3(OCA2):c.1712T>C (p.Val571Ala)
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
NM_000275.3(OCA2):c.1715G>C (p.Arg572Pro)
NM_000275.3(OCA2):c.1723C>T (p.Leu575=)
NM_000275.3(OCA2):c.172C>T (p.Gln58Ter)
NM_000275.3(OCA2):c.173_176dup (p.Ser59fs)
NM_000275.3(OCA2):c.1741G>A (p.Ala581Thr) rs2140704302
NM_000275.3(OCA2):c.1743A>T (p.Ala581=)
NM_000275.3(OCA2):c.1745T>C (p.Leu582Pro)
NM_000275.3(OCA2):c.1752C>G (p.His584Gln)
NM_000275.3(OCA2):c.1755G>C (p.Leu585=)
NM_000275.3(OCA2):c.1759G>A (p.Ala587Thr)
NM_000275.3(OCA2):c.1762C>A (p.Arg588=)
NM_000275.3(OCA2):c.1763G>A (p.Arg588Gln)
NM_000275.3(OCA2):c.1765A>T (p.Arg589Trp) rs1251628913
NM_000275.3(OCA2):c.1768C>T (p.Leu590=)
NM_000275.3(OCA2):c.1773C>T (p.His591=)
NM_000275.3(OCA2):c.1773_1774insT (p.Thr592fs)
NM_000275.3(OCA2):c.1784+10G>A
NM_000275.3(OCA2):c.1784+11G>C
NM_000275.3(OCA2):c.1784+1G>A
NM_000275.3(OCA2):c.1784+3A>C rs772202517
NM_000275.3(OCA2):c.1784+3A>G
NM_000275.3(OCA2):c.1784+9C>A rs1301086572
NM_000275.3(OCA2):c.1784+9C>T
NM_000275.3(OCA2):c.1785-14_1785-12del rs776632832
NM_000275.3(OCA2):c.1785-19C>G
NM_000275.3(OCA2):c.1785-9C>T
NM_000275.3(OCA2):c.1785A>G (p.Arg595=)
NM_000275.3(OCA2):c.1791C>T (p.Ile597=)
NM_000275.3(OCA2):c.1794A>G (p.Ser598=)
NM_000275.3(OCA2):c.1800G>A (p.Glu600=)
NM_000275.3(OCA2):c.1803C>T (p.Asp601=)
NM_000275.3(OCA2):c.1808del (p.Asn603fs) rs1476192724
NM_000275.3(OCA2):c.1808dup (p.Asn603fs)
NM_000275.3(OCA2):c.1811G>A (p.Trp604Ter)
NM_000275.3(OCA2):c.1821T>C (p.Asn607=)
NM_000275.3(OCA2):c.1828G>T (p.Glu610Ter)
NM_000275.3(OCA2):c.1832T>C (p.Leu611Pro)
NM_000275.3(OCA2):c.1833C>G (p.Leu611=)
NM_000275.3(OCA2):c.1834C>T (p.Gln612Ter)
NM_000275.3(OCA2):c.1836A>G (p.Gln612=)
NM_000275.3(OCA2):c.1841del (p.Lys614fs)
NM_000275.3(OCA2):c.1841dup (p.His615fs)
NM_000275.3(OCA2):c.1842+13C>G
NM_000275.3(OCA2):c.1842+13C>T
NM_000275.3(OCA2):c.1842+2T>C rs1226502822
NM_000275.3(OCA2):c.1843-18G>A
NM_000275.3(OCA2):c.1843-19T>C
NM_000275.3(OCA2):c.1843-1G>T rs2040042896
NM_000275.3(OCA2):c.1843-9_1843-6del rs2140620111
NM_000275.3(OCA2):c.1845T>C (p.His615=)
NM_000275.3(OCA2):c.1846A>G (p.Arg616Gly)
NM_000275.3(OCA2):c.1854T>G (p.Ser618=)
NM_000275.3(OCA2):c.1862T>C (p.Ile621Thr) rs2140619427
NM_000275.3(OCA2):c.1865T>C (p.Leu622Pro)
NM_000275.3(OCA2):c.1869C>T (p.Leu623=)
NM_000275.3(OCA2):c.1878C>T (p.Cys626=)
NM_000275.3(OCA2):c.1879C>T (p.Leu627=)
NM_000275.3(OCA2):c.1892G>C (p.Gly631Ala)
NM_000275.3(OCA2):c.1897G>T (p.Val633Phe) rs1372200062
NM_000275.3(OCA2):c.1906A>G (p.Met636Val)
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
NM_000275.3(OCA2):c.1914C>T (p.Phe638=)
NM_000275.3(OCA2):c.1917C>G (p.Leu639=)
NM_000275.3(OCA2):c.1919A>G (p.Asn640Ser)
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1923G>A (p.Ser641=)
NM_000275.3(OCA2):c.1929C>T (p.Val643=)
NM_000275.3(OCA2):c.1932T>C (p.Pro644=)
NM_000275.3(OCA2):c.1935C>T (p.Gly645=)
NM_000275.3(OCA2):c.1935dup (p.Ile646fs)
NM_000275.3(OCA2):c.1938T>C (p.Ile646=)
NM_000275.3(OCA2):c.1948C>T (p.Leu650Phe)
NM_000275.3(OCA2):c.1951+19T>C
NM_000275.3(OCA2):c.1951+1G>A
NM_000275.3(OCA2):c.1951+2T>A
NM_000275.3(OCA2):c.1951+2T>C
NM_000275.3(OCA2):c.1952-11C>T
NM_000275.3(OCA2):c.1952-14T>C
NM_000275.3(OCA2):c.1952-16A>C rs113151152
NM_000275.3(OCA2):c.1952-19T>G
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.1965T>C (p.Ile655=)
NM_000275.3(OCA2):c.1970G>T (p.Gly657Val)
NM_000275.3(OCA2):c.1978del (p.Trp660fs)
NM_000275.3(OCA2):c.1979G>A (p.Trp660Ter) rs1429912526
NM_000275.3(OCA2):c.197A>G (p.Gln66Arg)
NM_000275.3(OCA2):c.1980G>A (p.Trp660Ter)
NM_000275.3(OCA2):c.1980G>T (p.Trp660Cys) rs1567114551
NM_000275.3(OCA2):c.1983G>T (p.Leu661Phe) rs2140372179
NM_000275.3(OCA2):c.1985T>A (p.Leu662Gln) rs2140372156
NM_000275.3(OCA2):c.1992A>C (p.Leu664Phe)
NM_000275.3(OCA2):c.1999A>G (p.Ile667Val) rs779938295
NM_000275.3(OCA2):c.199del (p.Glu67fs)
NM_000275.3(OCA2):c.2007T>C (p.Asp669=)
NM_000275.3(OCA2):c.2011_2015del (p.Glu671fs)
NM_000275.3(OCA2):c.2018T>A (p.Ile673Asn)
NM_000275.3(OCA2):c.201G>A (p.Glu67=)
NM_000275.3(OCA2):c.2022A>G (p.Leu674=)
NM_000275.3(OCA2):c.2030T>C (p.Val677Ala) rs2140371787
NM_000275.3(OCA2):c.2031G>A (p.Val677=) rs1245023581
NM_000275.3(OCA2):c.2043C>A (p.Thr681=)
NM_000275.3(OCA2):c.2043C>T (p.Thr681=)
NM_000275.3(OCA2):c.2049_2050insC (p.Phe684fs)
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs) rs1595660890
NM_000275.3(OCA2):c.2058A>T (p.Ala686=) rs1800416
NM_000275.3(OCA2):c.2059G>A (p.Ala687Thr)
NM_000275.3(OCA2):c.205G>A (p.Ala69Thr)
NM_000275.3(OCA2):c.2062C>T (p.Leu688Phe)
NM_000275.3(OCA2):c.2064C>T (p.Leu688=)
NM_000275.3(OCA2):c.2069T>C (p.Val690Ala)
NM_000275.3(OCA2):c.2071C>T (p.Leu691=)
NM_000275.3(OCA2):c.2079+11A>G
NM_000275.3(OCA2):c.2079+12G>A
NM_000275.3(OCA2):c.2079+18T>C
NM_000275.3(OCA2):c.2079+1G>A
NM_000275.3(OCA2):c.2079+3A>G rs2140370979
NM_000275.3(OCA2):c.2079+4A>C rs2140370958
NM_000275.3(OCA2):c.2079+5G>T rs745930102
NM_000275.3(OCA2):c.2079+7T>C
NM_000275.3(OCA2):c.2080-11C>T
NM_000275.3(OCA2):c.2080-179G>T rs77925103
NM_000275.3(OCA2):c.2080-19C>A rs867949945
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
NM_000275.3(OCA2):c.2080-4C>G
NM_000275.3(OCA2):c.2082A>T (p.Ala694=)
NM_000275.3(OCA2):c.2087C>T (p.Ala696Val) rs2036594092
NM_000275.3(OCA2):c.2094C>T (p.Leu698=)
NM_000275.3(OCA2):c.2109T>C (p.Tyr703=) rs2151500428
NM_000275.3(OCA2):c.2139+13C>G
NM_000275.3(OCA2):c.2139+15A>G
NM_000275.3(OCA2):c.2139+15A>T
NM_000275.3(OCA2):c.2139+16T>C
NM_000275.3(OCA2):c.2139+19T>A
NM_000275.3(OCA2):c.2139+64dup rs372214357
NM_000275.3(OCA2):c.2139+9A>G rs2151500250
NM_000275.3(OCA2):c.2140-10C>G
NM_000275.3(OCA2):c.2140-11C>T
NM_000275.3(OCA2):c.2140-15T>C
NM_000275.3(OCA2):c.2140-16A>G
NM_000275.3(OCA2):c.2140-18C>T
NM_000275.3(OCA2):c.2140-19G>T
NM_000275.3(OCA2):c.2140-20T>A
NM_000275.3(OCA2):c.2140-3del
NM_000275.3(OCA2):c.2140-8C>T
NM_000275.3(OCA2):c.2148A>T (p.Pro716=)
NM_000275.3(OCA2):c.2154G>A (p.Glu718=)
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2172C>T (p.Ala724=)
NM_000275.3(OCA2):c.2177T>C (p.Val726Ala)
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs) rs771620099
NM_000275.3(OCA2):c.217A>G (p.Thr73Ala) rs2141895947
NM_000275.3(OCA2):c.2181G>A (p.Leu727=)
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2211C>A (p.Ser737=)
NM_000275.3(OCA2):c.2211C>T (p.Ser737=)
NM_000275.3(OCA2):c.2214G>C (p.Leu738=)
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
NM_000275.3(OCA2):c.2223C>A (p.Asn741Lys)
NM_000275.3(OCA2):c.2224_2237del (p.Ile742fs)
NM_000275.3(OCA2):c.2226C>G (p.Ile742Met)
NM_000275.3(OCA2):c.2229G>A (p.Pro743=) rs41307118
NM_000275.3(OCA2):c.2229G>C (p.Pro743=)
NM_000275.3(OCA2):c.2229G>T (p.Pro743=)
NM_000275.3(OCA2):c.2229_2230delinsAA (p.Phe744Ile)
NM_000275.3(OCA2):c.2238T>C (p.Ala746=)
NM_000275.3(OCA2):c.2241C>A (p.Thr747=)
NM_000275.3(OCA2):c.2242A>G (p.Met748Val)
NM_000275.3(OCA2):c.2244+10A>G
NM_000275.3(OCA2):c.2244+15T>A
NM_000275.3(OCA2):c.2244+16C>T
NM_000275.3(OCA2):c.2244+1G>A rs868098120
NM_000275.3(OCA2):c.2244+334CT[6] rs149989219
NM_000275.3(OCA2):c.2244+344_2244+345del rs10578897
NM_000275.3(OCA2):c.2244+5G>A
NM_000275.3(OCA2):c.2245-11T>C rs1185797148
NM_000275.3(OCA2):c.2245-12C>A
NM_000275.3(OCA2):c.2245-12C>T
NM_000275.3(OCA2):c.2245-16T>C
NM_000275.3(OCA2):c.2245-17G>A
NM_000275.3(OCA2):c.2245-19A>G
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.2245-6C>T rs368772032
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu) rs2141895899
NM_000275.3(OCA2):c.2253G>A (p.Val751=)
NM_000275.3(OCA2):c.2255T>C (p.Leu752Pro)
NM_000275.3(OCA2):c.2259G>A (p.Leu753=)
NM_000275.3(OCA2):c.2267G>T (p.Ser756Ile)
NM_000275.3(OCA2):c.226A>T (p.Arg76Trp)
NM_000275.3(OCA2):c.227+13T>C
NM_000275.3(OCA2):c.227+15G>A
NM_000275.3(OCA2):c.227+1G>T
NM_000275.3(OCA2):c.227+1_227+15del rs2044626810
NM_000275.3(OCA2):c.227+258T>A rs79878851
NM_000275.3(OCA2):c.2271C>G (p.His757Gln)
NM_000275.3(OCA2):c.2271C>T (p.His757=) rs148894313
NM_000275.3(OCA2):c.2272G>A (p.Asp758Asn)
NM_000275.3(OCA2):c.2273A>G (p.Asp758Gly) rs752888326
NM_000275.3(OCA2):c.2278G>A (p.Glu760Lys)
NM_000275.3(OCA2):c.227G>A (p.Arg76Lys)
NM_000275.3(OCA2):c.228-14C>T
NM_000275.3(OCA2):c.228-18C>T
NM_000275.3(OCA2):c.228-2A>G
NM_000275.3(OCA2):c.2280G>A (p.Glu760=)
NM_000275.3(OCA2):c.2282T>C (p.Val761Ala) rs143116542
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met) rs139837760
NM_000275.3(OCA2):c.2287C>T (p.Leu763=)
NM_000275.3(OCA2):c.2292C>G (p.Pro764=)
NM_000275.3(OCA2):c.2295A>G (p.Ala765=)
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr) rs144064082
NM_000275.3(OCA2):c.2298G>A (p.Pro766=)
NM_000275.3(OCA2):c.2298G>T (p.Pro766=)
NM_000275.3(OCA2):c.22_23dup (p.Arg9fs)
NM_000275.3(OCA2):c.2301G>A (p.Pro767=)
NM_000275.3(OCA2):c.2301G>T (p.Pro767=) rs566250675
NM_000275.3(OCA2):c.2304C>A (p.Leu768=)
NM_000275.3(OCA2):c.2304C>T (p.Leu768=)
NM_000275.3(OCA2):c.2309A>G (p.Tyr770Cys)
NM_000275.3(OCA2):c.2310T>C (p.Tyr770=)
NM_000275.3(OCA2):c.2311G>T (p.Ala771Ser)
NM_000275.3(OCA2):c.2313C>G (p.Ala771=)
NM_000275.3(OCA2):c.2317del (p.Ala773fs)
NM_000275.3(OCA2):c.2323G>A (p.Gly775Ser)
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg) rs774822330
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp) rs987780496
NM_000275.3(OCA2):c.2335G>A (p.Gly779Arg) rs2151412205
NM_000275.3(OCA2):c.2336del (p.Gly779fs) rs1261095563
NM_000275.3(OCA2):c.2338+10T>C
NM_000275.3(OCA2):c.2338+13dup rs1361330740
NM_000275.3(OCA2):c.2338+14G>T
NM_000275.3(OCA2):c.2338+16C>T
NM_000275.3(OCA2):c.2338+18G>A
NM_000275.3(OCA2):c.2338+18G>C
NM_000275.3(OCA2):c.2338+18G>T
NM_000275.3(OCA2):c.2338+19C>T
NM_000275.3(OCA2):c.2338+1G>A
NM_000275.3(OCA2):c.2338+2T>G rs1064796956
NM_000275.3(OCA2):c.2338+8G>A
NM_000275.3(OCA2):c.2338+9C>T
NM_000275.3(OCA2):c.2339-3del
NM_000275.3(OCA2):c.2343C>T (p.Asn781=)
NM_000275.3(OCA2):c.2349A>C (p.Thr783=)
NM_000275.3(OCA2):c.2353_2356del (p.Ile785fs) rs781001810
NM_000275.3(OCA2):c.2355T>C (p.Ile785=)
NM_000275.3(OCA2):c.2361G>C (p.Ala787=)
NM_000275.3(OCA2):c.2370C>T (p.Asn790=)
NM_000275.3(OCA2):c.2370CGT[1] (p.Val792del)
NM_000275.3(OCA2):c.2373C>G (p.Val791=) rs761657884
NM_000275.3(OCA2):c.2373C>T (p.Val791=)
NM_000275.3(OCA2):c.2376G>A (p.Val792=)
NM_000275.3(OCA2):c.2383G>C (p.Gly795Arg)
NM_000275.3(OCA2):c.2385G>A (p.Gly795=) rs2151380371
NM_000275.3(OCA2):c.2389G>T (p.Ala797Ser)
NM_000275.3(OCA2):c.2395C>A (p.Gln799Lys) rs781471173
NM_000275.3(OCA2):c.2401G>T (p.Gly801Ter)
NM_000275.3(OCA2):c.2403A>G (p.Gly801=) rs1170388631
NM_000275.3(OCA2):c.2404dup (p.Tyr802fs)
NM_000275.3(OCA2):c.2406T>G (p.Tyr802Ter) rs2035478131
NM_000275.3(OCA2):c.2409G>A (p.Gly803=)
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu) rs747340554
NM_000275.3(OCA2):c.2412C>T (p.Phe804=)
NM_000275.3(OCA2):c.2414C>G (p.Ser805Cys)
NM_000275.3(OCA2):c.2424A>G (p.Glu808=)
NM_000275.3(OCA2):c.2425T>C (p.Phe809Leu) rs765779905
NM_000275.3(OCA2):c.2430C>T (p.Phe810=)
NM_000275.3(OCA2):c.2432+15C>A
NM_000275.3(OCA2):c.2432+178C>T rs113937352
NM_000275.3(OCA2):c.2432+19del
NM_000275.3(OCA2):c.2432+8T>G
NM_000275.3(OCA2):c.2432+8del rs754774943
NM_000275.3(OCA2):c.2433-11_2433-10del
NM_000275.3(OCA2):c.2433-14T>G
NM_000275.3(OCA2):c.2433G>T (p.Arg811Ser)
NM_000275.3(OCA2):c.2437G>A (p.Gly813Ser)
NM_000275.3(OCA2):c.2442C>T (p.Phe814=)
NM_000275.3(OCA2):c.2445A>C (p.Pro815=)
NM_000275.3(OCA2):c.2446A>G (p.Met816Val)
NM_000275.3(OCA2):c.2451G>A (p.Met817Ile)
NM_000275.3(OCA2):c.2459C>A (p.Ser820Tyr)
NM_000275.3(OCA2):c.245C>G (p.Pro82Arg)
NM_000275.3(OCA2):c.2464A>C (p.Thr822Pro)
NM_000275.3(OCA2):c.2475G>A (p.Met825Ile)
NM_000275.3(OCA2):c.2477_2478del (p.Cys826fs)
NM_000275.3(OCA2):c.2481T>G (p.Tyr827Ter)
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)
NM_000275.3(OCA2):c.2494C>T (p.His832Tyr) rs200918662
NM_000275.3(OCA2):c.2498TGG[2] (p.Val835del) rs751440917
NM_000275.3(OCA2):c.2502G>A (p.Val834=)
NM_000275.3(OCA2):c.2503del (p.Val835fs)
NM_000275.3(OCA2):c.255C>G (p.Ser85=)
NM_000275.3(OCA2):c.271_272delinsTT (p.Asp91Phe) rs2141380377
NM_000275.3(OCA2):c.274del (p.Ser92fs) rs778613495
NM_000275.3(OCA2):c.279C>T (p.Cys93=)
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
NM_000275.3(OCA2):c.28C>T (p.Arg10Trp)
NM_000275.3(OCA2):c.291C>T (p.Asn97=)
NM_000275.3(OCA2):c.300G>C (p.Leu100Phe)
NM_000275.3(OCA2):c.301C>T (p.Leu101=)
NM_000275.3(OCA2):c.306G>T (p.Arg102Ser)
NM_000275.3(OCA2):c.312C>T (p.Ser104=)
NM_000275.3(OCA2):c.318G>A (p.Gln106=)
NM_000275.3(OCA2):c.326+10T>C
NM_000275.3(OCA2):c.326+17C>T
NM_000275.3(OCA2):c.326+17del
NM_000275.3(OCA2):c.326+17dup
NM_000275.3(OCA2):c.326+18T>C
NM_000275.3(OCA2):c.326+20A>G
NM_000275.3(OCA2):c.326G>C (p.Gly109Ala)
NM_000275.3(OCA2):c.327-16C>T
NM_000275.3(OCA2):c.327-2A>G
NM_000275.3(OCA2):c.327-4C>G
NM_000275.3(OCA2):c.327-5T>C
NM_000275.3(OCA2):c.327-8C>G
NM_000275.3(OCA2):c.327G>A (p.Gly109=) rs751357554
NM_000275.3(OCA2):c.330A>G (p.Ser110=)
NM_000275.3(OCA2):c.33C>T (p.Tyr11=)
NM_000275.3(OCA2):c.345T>C (p.Val115=)
NM_000275.3(OCA2):c.34C>A (p.Pro12Thr)
NM_000275.3(OCA2):c.352C>A (p.Pro118Thr)
NM_000275.3(OCA2):c.354A>C (p.Pro118=)
NM_000275.3(OCA2):c.369T>C (p.Ala123=)
NM_000275.3(OCA2):c.374_375del (p.Glu125fs)
NM_000275.3(OCA2):c.393T>G (p.Ser131=) rs776934050
NM_000275.3(OCA2):c.399C>T (p.Asp133=)
NM_000275.3(OCA2):c.39C>T (p.Gly13=)
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter) rs959570803
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
NM_000275.3(OCA2):c.407G>C (p.Arg136Pro)
NM_000275.3(OCA2):c.408_409del (p.Arg137fs)
NM_000275.3(OCA2):c.427G>T (p.Glu143Ter)
NM_000275.3(OCA2):c.42G>A (p.Ala14=)
NM_000275.3(OCA2):c.42G>T (p.Ala14=)
NM_000275.3(OCA2):c.432G>A (p.Val144=)
NM_000275.3(OCA2):c.44C>A (p.Pro15Gln) rs201291702
NM_000275.3(OCA2):c.455C>T (p.Ser152Phe)
NM_000275.3(OCA2):c.459C>T (p.Ser153=) rs2042803933
NM_000275.3(OCA2):c.460G>T (p.Glu154Ter)
NM_000275.3(OCA2):c.463A>T (p.Lys155Ter)
NM_000275.3(OCA2):c.46G>A (p.Ala16Thr) rs2044640419
NM_000275.3(OCA2):c.470A>T (p.Asp157Val) rs2141347910
NM_000275.3(OCA2):c.471C>T (p.Asp157=)
NM_000275.3(OCA2):c.480C>T (p.Asp160=)
NM_000275.3(OCA2):c.482del (p.Ser161fs)
NM_000275.3(OCA2):c.483C>T (p.Ser161=)
NM_000275.3(OCA2):c.485C>T (p.Pro162Leu)
NM_000275.3(OCA2):c.486G>A (p.Pro162=)
NM_000275.3(OCA2):c.486G>T (p.Pro162=) rs1222531095
NM_000275.3(OCA2):c.489C>T (p.His163=)
NM_000275.3(OCA2):c.492C>T (p.Ile164=) rs2042802209
NM_000275.3(OCA2):c.493C>T (p.Arg165Ter) rs2141347507
NM_000275.3(OCA2):c.501T>C (p.Arg167=)
NM_000275.3(OCA2):c.511C>T (p.Leu171=)
NM_000275.3(OCA2):c.515+10C>T
NM_000275.3(OCA2):c.515+11T>G
NM_000275.3(OCA2):c.515+19C>G
NM_000275.3(OCA2):c.515+1G>A
NM_000275.3(OCA2):c.515+20C>A
NM_000275.3(OCA2):c.515+3A>G rs2042801145
NM_000275.3(OCA2):c.515+6C>T
NM_000275.3(OCA2):c.515+7G>A
NM_000275.3(OCA2):c.515+8G>A rs1419081403
NM_000275.3(OCA2):c.515G>C (p.Arg172Thr)
NM_000275.3(OCA2):c.516-10del
NM_000275.3(OCA2):c.516-13T>G
NM_000275.3(OCA2):c.516-15C>T rs1566812824
NM_000275.3(OCA2):c.516-16A>G
NM_000275.3(OCA2):c.516-2A>G
NM_000275.3(OCA2):c.516-4G>A
NM_000275.3(OCA2):c.516-4G>C
NM_000275.3(OCA2):c.518G>A (p.Arg173His)
NM_000275.3(OCA2):c.525G>A (p.Val175=)
NM_000275.3(OCA2):c.534G>A (p.Leu178=)
NM_000275.3(OCA2):c.537A>G (p.Lys179=)
NM_000275.3(OCA2):c.546C>A (p.Gly182=) rs759125087
NM_000275.3(OCA2):c.546C>T (p.Gly182=)
NM_000275.3(OCA2):c.553G>T (p.Ala185Ser) rs2042701586
NM_000275.3(OCA2):c.570T>C (p.Cys190=)
NM_000275.3(OCA2):c.573+10T>A
NM_000275.3(OCA2):c.573+14C>G
NM_000275.3(OCA2):c.573+14C>T
NM_000275.3(OCA2):c.573+16G>T
NM_000275.3(OCA2):c.573+17C>T
NM_000275.3(OCA2):c.573+19C>G rs2141318761
NM_000275.3(OCA2):c.573+2_573+3del
NM_000275.3(OCA2):c.573+6T>C rs2042700750
NM_000275.3(OCA2):c.573+9C>T
NM_000275.3(OCA2):c.574-13C>G
NM_000275.3(OCA2):c.574-13C>T rs2042628762
NM_000275.3(OCA2):c.574-17G>A
NM_000275.3(OCA2):c.574-17_574-3del rs752489291
NM_000275.3(OCA2):c.574-19A>T
NM_000275.3(OCA2):c.574-1G>C
NM_000275.3(OCA2):c.574-4A>T
NM_000275.3(OCA2):c.588A>T (p.Leu196=)
NM_000275.3(OCA2):c.605A>G (p.Lys202Arg)
NM_000275.3(OCA2):c.612G>A (p.Trp204Ter)
NM_000275.3(OCA2):c.615G>A (p.Gln205=)
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.624C>T (p.Ala208=)
NM_000275.3(OCA2):c.633G>A (p.Pro211=)
NM_000275.3(OCA2):c.633G>C (p.Pro211=)
NM_000275.3(OCA2):c.633G>T (p.Pro211=)
NM_000275.3(OCA2):c.638A>T (p.Glu213Val)
NM_000275.3(OCA2):c.639G>A (p.Glu213=)
NM_000275.3(OCA2):c.646+10dup
NM_000275.3(OCA2):c.646+113_646+114insCCATTCTCAC rs11283428
NM_000275.3(OCA2):c.646+12C>G
NM_000275.3(OCA2):c.646+17C>G
NM_000275.3(OCA2):c.646+1G>A
NM_000275.3(OCA2):c.646+8A>G
NM_000275.3(OCA2):c.647-10A>G
NM_000275.3(OCA2):c.647-12_647-1del
NM_000275.3(OCA2):c.647-16C>G
NM_000275.3(OCA2):c.647-19C>G
NM_000275.3(OCA2):c.647-20T>C
NM_000275.3(OCA2):c.647-5C>G
NM_000275.3(OCA2):c.647-8T>A
NM_000275.3(OCA2):c.647-9C>A
NM_000275.3(OCA2):c.647-9C>T rs1195427655
NM_000275.3(OCA2):c.647C>T (p.Ser216Phe) rs2141261889
NM_000275.3(OCA2):c.649G>C (p.Val217Leu) rs773252077
NM_000275.3(OCA2):c.655_658dup (p.Ser220delinsThrTer)
NM_000275.3(OCA2):c.660C>G (p.Ser220Arg)
NM_000275.3(OCA2):c.669G>C (p.Val223=)
NM_000275.3(OCA2):c.669_675dup (p.Thr226fs)
NM_000275.3(OCA2):c.66G>A (p.Thr22=)
NM_000275.3(OCA2):c.66G>C (p.Thr22=)
NM_000275.3(OCA2):c.677C>T (p.Thr226Met)
NM_000275.3(OCA2):c.699A>T (p.Ala233=)
NM_000275.3(OCA2):c.69C>G (p.Ser23=) rs138611712
NM_000275.3(OCA2):c.702G>C (p.Gly234=)
NM_000275.3(OCA2):c.705C>T (p.Ala235=)
NM_000275.3(OCA2):c.711G>C (p.Val237=)
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.3(OCA2):c.722C>T (p.Pro241Leu) rs2305253
NM_000275.3(OCA2):c.728G>A (p.Arg243His)
NM_000275.3(OCA2):c.731del (p.Pro244fs)
NM_000275.3(OCA2):c.733G>T (p.Gly245Trp) rs1439057856
NM_000275.3(OCA2):c.744_746dup (p.Glu248_His249insGln) rs2141260656
NM_000275.3(OCA2):c.74_78del (p.Pro25fs) rs747408689
NM_000275.3(OCA2):c.757G>A (p.Glu253Lys)
NM_000275.3(OCA2):c.759G>A (p.Glu253=) rs1011810786
NM_000275.3(OCA2):c.75C>G (p.Pro25=)
NM_000275.3(OCA2):c.761T>G (p.Leu254Arg)
NM_000275.3(OCA2):c.765C>T (p.Thr255=)
NM_000275.3(OCA2):c.766C>T (p.Gln256Ter)
NM_000275.3(OCA2):c.774C>T (p.Asp258=) rs757789602
NM_000275.3(OCA2):c.786C>T (p.Ser262=)
NM_000275.3(OCA2):c.78C>T (p.Ser26=)
NM_000275.3(OCA2):c.792G>T (p.Trp264Cys) rs755904696
NM_000275.3(OCA2):c.795G>A (p.Arg265=)
NM_000275.3(OCA2):c.798G>A (p.Arg266=)
NM_000275.3(OCA2):c.807+11T>C
NM_000275.3(OCA2):c.807+12_807+18del
NM_000275.3(OCA2):c.807+299del rs368311380
NM_000275.3(OCA2):c.807+8T>A
NM_000275.3(OCA2):c.808-10_808-9delinsTT
NM_000275.3(OCA2):c.808-15C>T rs534622236
NM_000275.3(OCA2):c.808-17T>C
NM_000275.3(OCA2):c.808-1G>C
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.808-4A>G
NM_000275.3(OCA2):c.811A>G (p.Thr271Ala) rs2141241183
NM_000275.3(OCA2):c.815A>G (p.His272Arg)
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.824C>G (p.Thr275Arg) rs369750458
NM_000275.3(OCA2):c.824C>T (p.Thr275Met) rs369750458
NM_000275.3(OCA2):c.825G>A (p.Thr275=)
NM_000275.3(OCA2):c.828G>A (p.Val276=)
NM_000275.3(OCA2):c.831T>A (p.Tyr277Ter) rs759876062
NM_000275.3(OCA2):c.840G>A (p.Pro280=) rs761203909
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000275.3(OCA2):c.849C>T (p.Ser283=)
NM_000275.3(OCA2):c.84C>A (p.Leu28=)
NM_000275.3(OCA2):c.867C>T (p.Ser289=)
NM_000275.3(OCA2):c.867del (p.Ser289fs) rs794727898
NM_000275.3(OCA2):c.870G>A (p.Arg290=)
NM_000275.3(OCA2):c.872C>T (p.Thr291Ile) rs2141240247
NM_000275.3(OCA2):c.882A>G (p.Val294=)
NM_000275.3(OCA2):c.883C>T (p.Leu295=)
NM_000275.3(OCA2):c.885G>C (p.Leu295=) rs2042383052
NM_000275.3(OCA2):c.890+10C>T
NM_000275.3(OCA2):c.890+1G>A rs2042382744
NM_000275.3(OCA2):c.890+7T>A
NM_000275.3(OCA2):c.891-10C>A rs1244128314
NM_000275.3(OCA2):c.891-10C>G
NM_000275.3(OCA2):c.891-10C>T
NM_000275.3(OCA2):c.891-11T>C rs1446145401
NM_000275.3(OCA2):c.891-12T>C
NM_000275.3(OCA2):c.891-15T>C
NM_000275.3(OCA2):c.891-17G>C
NM_000275.3(OCA2):c.891-18C>T
NM_000275.3(OCA2):c.891-19T>C
NM_000275.3(OCA2):c.891-2A>G
NM_000275.3(OCA2):c.891-4G>T rs745496559
NM_000275.3(OCA2):c.891-6C>T rs1482531583
NM_000275.3(OCA2):c.891-9G>A
NM_000275.3(OCA2):c.894G>C (p.Glu298Asp)
NM_000275.3(OCA2):c.903del (p.Ile302fs)
NM_000275.3(OCA2):c.904A>G (p.Ile302Val)
NM_000275.3(OCA2):c.916del (p.Ala306fs) rs2141229433
NM_000275.3(OCA2):c.924G>A (p.Leu308=)
NM_000275.3(OCA2):c.925C>T (p.Gln309Ter)
NM_000275.3(OCA2):c.934C>T (p.Gln312Ter)
NM_000275.3(OCA2):c.93T>G (p.Leu31=)
NM_000275.3(OCA2):c.942C>G (p.Val314=)
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer) rs747395624
NM_000275.3(OCA2):c.961C>T (p.Gln321Ter)
NM_000275.3(OCA2):c.966C>A (p.Tyr322Ter)
NM_000275.3(OCA2):c.976A>G (p.Ser326Gly)
NM_000275.3(OCA2):c.979G>A (p.Val327Ile)
NM_000275.3(OCA2):c.987C>G (p.Thr329=)
NM_000275.3(OCA2):c.987C>T (p.Thr329=)

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