ClinVar Miner

List of variants in gene OBSL1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 874
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HGVS dbSNP gnomAD frequency
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_015311.3(OBSL1):c.4067-241T>A rs4674411 0.98152
NM_015311.3(OBSL1):c.5413+31T>A rs4672933 0.98019
NM_015311.3(OBSL1):c.1838-71T>C rs4674412 0.97736
NM_015311.3(OBSL1):c.2680+81A>G rs11904583 0.97729
NM_015311.3(OBSL1):c.4067-194T>C rs12476090 0.97393
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_015311.3(OBSL1):c.4610-207C>T rs4674410 0.96049
NM_015311.3(OBSL1):c.5684-270T>C rs6717394 0.93772
NM_015311.3(OBSL1):c.4990-165A>G rs6436157 0.93740
NM_015311.3(OBSL1):c.5683+87A>G rs6761575 0.93503
NM_015311.3(OBSL1):c.5684-188G>A rs6745782 0.92557
NM_015311.3(OBSL1):c.5414-50G>A rs4672931 0.92538
NM_015311.3(OBSL1):c.5414-71G>A rs4672932 0.92538
NM_015311.3(OBSL1):c.2953+754G>A rs1039899 0.92063
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NM_015311.3(OBSL1):c.2681-284G>A rs2241526 0.53909
NM_015311.3(OBSL1):c.2954-268C>T rs1039900 0.47658
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_015311.3(OBSL1):c.3226+243T>C rs10208534 0.47339
NM_015311.3(OBSL1):c.5684-153C>T rs3731918 0.47010
NM_015311.3(OBSL1):c.3227-186G>A rs13401387 0.46417
NM_015311.3(OBSL1):c.5309-29G>A rs4672934 0.46336
NM_015311.3(OBSL1):c.4609+189G>A rs1056908 0.46335
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_015311.3(OBSL1):c.5684-82A>G rs1043582 0.44511
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_015311.3(OBSL1):c.1283-18T>A rs2292360 0.36635
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_015311.3(OBSL1):c.2953+761G>C rs112802083 0.32228
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_015311.3(OBSL1):c.4067-34T>C rs13010015 0.26103
NM_015311.3(OBSL1):c.4877-148G>C rs6754985 0.22643
NM_015311.3(OBSL1):c.4610-91G>A rs12617530 0.21927
NM_015311.3(OBSL1):c.2681-33del rs55904205 0.21002
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_015311.3(OBSL1):c.1013-67A>G rs12623922 0.18605
NM_015311.3(OBSL1):c.4066+36C>T rs55873563 0.13687
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_015311.3(OBSL1):c.2408-221T>C rs112141828 0.03381
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_015311.3(OBSL1):c.1535-31A>G rs115455375 0.01936
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_015311.3(OBSL1):c.2823C>T (p.Ser941=) rs61732790 0.01274
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) rs191256186 0.00971
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_015311.3(OBSL1):c.2408-8C>T rs138175630 0.00851
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_015311.3(OBSL1):c.1999G>A (p.Ala667Thr) rs141057611 0.00401
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) rs148433261 0.00361
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_015311.3(OBSL1):c.3753C>T (p.Pro1251=) rs200620909 0.00321
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) rs115417324 0.00317
NM_015311.3(OBSL1):c.2680+12G>A rs148371014 0.00290
NM_015311.3(OBSL1):c.3595C>T (p.Arg1199Trp) rs143517287 0.00274
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) rs200349173 0.00270
NM_015311.3(OBSL1):c.4059C>T (p.Ser1353=) rs146477713 0.00265
NM_015311.3(OBSL1):c.903C>T (p.Gly301=) rs201632798 0.00265
NM_015311.3(OBSL1):c.751G>T (p.Ala251Ser) rs201338267 0.00264
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) rs181182663 0.00256
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) rs142650279 0.00255
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) rs200341414 0.00230
NM_015311.3(OBSL1):c.2190C>G (p.Thr730=) rs368952984 0.00225
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) rs201032988 0.00210
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927 0.00155
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) rs199991707 0.00155
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) rs202141932 0.00154
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) rs150250100 0.00145
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) rs199929590 0.00138
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) rs199936876 0.00114
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) rs183413469 0.00111
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_015311.3(OBSL1):c.3323C>G (p.Ala1108Gly) rs143493175 0.00106
NM_015311.3(OBSL1):c.3082G>C (p.Glu1028Gln) rs200920323 0.00101
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) rs200543358 0.00098
NM_015311.3(OBSL1):c.2407+11A>G rs62191613 0.00096
NM_015311.3(OBSL1):c.4839G>A (p.Ala1613=) rs201821906 0.00095
NM_015311.3(OBSL1):c.1283-10C>T rs78947150 0.00091
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) rs3795991 0.00087
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) rs375870998 0.00076
NM_015311.3(OBSL1):c.876C>T (p.Arg292=) rs551084552 0.00066
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) rs376818200 0.00055
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_015311.3(OBSL1):c.3637G>A (p.Val1213Met) rs201555617 0.00054
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met) rs144083909 0.00050
NM_015311.3(OBSL1):c.4029G>A (p.Ala1343=) rs374900616 0.00044
NM_015311.3(OBSL1):c.4533T>G (p.Gly1511=) rs372191745 0.00043
NM_015311.3(OBSL1):c.183G>A (p.Pro61=) rs763626577 0.00041
NM_015311.3(OBSL1):c.79G>A (p.Ala27Thr) rs373427330 0.00039
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) rs186348476 0.00038
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) rs376475182 0.00036
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) rs370898199 0.00033
NM_015311.3(OBSL1):c.3259C>T (p.Arg1087Cys) rs202246881 0.00032
NM_015311.3(OBSL1):c.1318G>A (p.Val440Ile) rs202247360 0.00030
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) rs374911539 0.00029
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) rs377614503 0.00028
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_015311.3(OBSL1):c.1664G>A (p.Arg555Gln) rs200343179 0.00026
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) rs201462216 0.00026
NM_015311.3(OBSL1):c.4336+9C>G rs368631206 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) rs371141615 0.00026
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) rs200780633 0.00026
NM_015311.3(OBSL1):c.1113G>A (p.Thr371=) rs754931305 0.00025
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) rs199941785 0.00025
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) rs200417841 0.00024
NM_015311.3(OBSL1):c.4876+20A>C rs368884082 0.00023
NM_015311.3(OBSL1):c.1283-9G>A rs376967214 0.00022
NM_015311.3(OBSL1):c.3128G>A (p.Arg1043His) rs200234534 0.00022
NM_015311.3(OBSL1):c.5644G>A (p.Ala1882Thr) rs368898845 0.00019
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) rs373882420 0.00017
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 0.00017
NM_015311.3(OBSL1):c.3252G>A (p.Pro1084=) rs372588532 0.00017
NM_015311.3(OBSL1):c.4720C>T (p.Arg1574Trp) rs375171800 0.00017
NM_015311.3(OBSL1):c.2283G>A (p.Leu761=) rs369804546 0.00016
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687 0.00016
NM_015311.3(OBSL1):c.3592T>C (p.Ser1198Pro) rs779251308 0.00016
NM_015311.3(OBSL1):c.4376G>A (p.Arg1459Gln) rs200827101 0.00016
NM_015311.3(OBSL1):c.3062G>A (p.Arg1021His) rs542422351 0.00015
NM_015311.3(OBSL1):c.5441C>T (p.Pro1814Leu) rs199592039 0.00015
NM_015311.3(OBSL1):c.2100C>T (p.Pro700=) rs372718496 0.00014
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) rs368538357 0.00014
NM_015311.3(OBSL1):c.2541G>A (p.Val847=) rs368328947 0.00014
NM_015311.3(OBSL1):c.2595G>A (p.Val865=) rs368895697 0.00014
NM_015311.3(OBSL1):c.2600C>A (p.Pro867His) rs200723165 0.00014
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) rs769179933 0.00014
NM_015311.3(OBSL1):c.2640C>T (p.Val880=) rs534108201 0.00014
NM_015311.3(OBSL1):c.2954-8C>T rs371235393 0.00014
NM_015311.3(OBSL1):c.3700G>A (p.Ala1234Thr) rs533010242 0.00014
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) rs74589174 0.00014
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu) rs201690766 0.00014
NM_015311.3(OBSL1):c.5183T>C (p.Val1728Ala) rs769360822 0.00014
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) rs199678301 0.00013
NM_015311.3(OBSL1):c.1821C>T (p.His607=) rs371357258 0.00013
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) rs200676512 0.00013
NM_015311.3(OBSL1):c.2506G>A (p.Ala836Thr) rs374921331 0.00013
NM_015311.3(OBSL1):c.2710G>A (p.Gly904Ser) rs751351118 0.00013
NM_015311.3(OBSL1):c.3337C>T (p.Arg1113Cys) rs182503055 0.00013
NM_015311.3(OBSL1):c.1252G>A (p.Val418Met) rs201545754 0.00012
NM_015311.3(OBSL1):c.3523G>C (p.Ala1175Pro) rs369797519 0.00012
NM_015311.3(OBSL1):c.1123C>T (p.Arg375Cys) rs546549598 0.00011
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) rs199890334 0.00011
NM_015311.3(OBSL1):c.3426C>T (p.His1142=) rs377322292 0.00011
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491 0.00011
NM_015311.3(OBSL1):c.4898G>A (p.Arg1633Gln) rs747860748 0.00011
NM_015311.3(OBSL1):c.5254G>A (p.Glu1752Lys) rs376047463 0.00011
NM_015311.3(OBSL1):c.1498G>A (p.Gly500Ser) rs566593485 0.00010
NM_015311.3(OBSL1):c.1592A>G (p.Lys531Arg) rs749485584 0.00010
NM_015311.3(OBSL1):c.1737C>T (p.Gly579=) rs374019271 0.00010
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) rs202040862 0.00010
NM_015311.3(OBSL1):c.3427G>A (p.Ala1143Thr) rs202017204 0.00010
NM_015311.3(OBSL1):c.3817G>A (p.Glu1273Lys) rs756778521 0.00010
NM_015311.3(OBSL1):c.5684-4G>A rs184252908 0.00010
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) rs762334954 0.00009
NM_015311.3(OBSL1):c.1636G>A (p.Glu546Lys) rs374217934 0.00009
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) rs377378051 0.00009
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) rs747837754 0.00009
NM_015311.3(OBSL1):c.2989G>A (p.Val997Met) rs370476721 0.00009
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) rs760053992 0.00009
NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) rs748291209 0.00009
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) rs77287119 0.00009
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) rs560822587 0.00009
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) rs200449388 0.00009
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) rs548462567 0.00009
NM_015311.3(OBSL1):c.4483C>T (p.Arg1495Cys) rs369117003 0.00009
NM_015311.3(OBSL1):c.4877-7C>T rs377217282 0.00009
NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) rs549049375 0.00009
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) rs771686909 0.00009
NM_015311.3(OBSL1):c.1365C>T (p.Ala455=) rs180729836 0.00008
NM_015311.3(OBSL1):c.2175G>A (p.Ser725=) rs376487302 0.00008
NM_015311.3(OBSL1):c.2421C>T (p.His807=) rs560034141 0.00008
NM_015311.3(OBSL1):c.2661C>T (p.Tyr887=) rs574451794 0.00008
NM_015311.3(OBSL1):c.3445G>A (p.Gly1149Arg) rs200771559 0.00008
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_015311.3(OBSL1):c.754C>T (p.Pro252Ser) rs201403113 0.00008
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) rs369829562 0.00007
NM_015311.3(OBSL1):c.1508G>A (p.Arg503His) rs539425919 0.00007
NM_015311.3(OBSL1):c.3227-8C>T rs760836112 0.00007
NM_015311.3(OBSL1):c.3227C>T (p.Ala1076Val) rs773431840 0.00007
NM_015311.3(OBSL1):c.3798del (p.Val1267fs) rs766559629 0.00007
NM_015311.3(OBSL1):c.4784G>A (p.Arg1595Gln) rs780179113 0.00007
NM_015311.3(OBSL1):c.1074C>T (p.Ala358=) rs764705909 0.00006
NM_015311.3(OBSL1):c.1268A>G (p.Asn423Ser) rs374200326 0.00006
NM_015311.3(OBSL1):c.1565T>C (p.Ile522Thr) rs374402325 0.00006
NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) rs1438844681 0.00006
NM_015311.3(OBSL1):c.2826C>T (p.Pro942=) rs200401714 0.00006
NM_015311.3(OBSL1):c.3293G>A (p.Arg1098His) rs371148501 0.00006
NM_015311.3(OBSL1):c.3495C>G (p.Ile1165Met) rs778017047 0.00006
NM_015311.3(OBSL1):c.3502+10C>T rs765376090 0.00006
NM_015311.3(OBSL1):c.3548T>C (p.Leu1183Pro) rs985062387 0.00006
NM_015311.3(OBSL1):c.3671del (p.Glu1224fs) rs1488625153 0.00006
NM_015311.3(OBSL1):c.3803G>A (p.Arg1268Gln) rs150155792 0.00006
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) rs766548555 0.00006
NM_015311.3(OBSL1):c.4028C>T (p.Ala1343Val) rs367902110 0.00006
NM_015311.3(OBSL1):c.4609+12G>A rs367810594 0.00006
NM_015311.3(OBSL1):c.4766C>T (p.Ser1589Leu) rs765704645 0.00006
NM_015311.3(OBSL1):c.5014C>A (p.Pro1672Thr) rs965904763 0.00006
NM_015311.3(OBSL1):c.5413+11G>A rs755935565 0.00006
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) rs746864661 0.00006
NM_015311.3(OBSL1):c.971C>T (p.Ser324Leu) rs1284495604 0.00006
NM_015311.3(OBSL1):c.1900G>A (p.Val634Ile) rs562383235 0.00005
NM_015311.3(OBSL1):c.2134+15G>A rs779091731 0.00005
NM_015311.3(OBSL1):c.2315G>A (p.Arg772His) rs374481615 0.00005
NM_015311.3(OBSL1):c.2516G>A (p.Arg839His) rs371714401 0.00005
NM_015311.3(OBSL1):c.3940C>T (p.Arg1314Trp) rs1298506284 0.00005
NM_015311.3(OBSL1):c.4123G>A (p.Asp1375Asn) rs770174055 0.00005
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) rs764560783 0.00005
NM_015311.3(OBSL1):c.4610-6G>A rs373972208 0.00005
NM_015311.3(OBSL1):c.766T>C (p.Trp256Arg) rs764310209 0.00005
NM_015311.3(OBSL1):c.1034G>A (p.Arg345Gln) rs781161790 0.00004
NM_015311.3(OBSL1):c.1183C>T (p.Arg395Trp) rs780094050 0.00004
NM_015311.3(OBSL1):c.1307G>A (p.Arg436Gln) rs760634144 0.00004
NM_015311.3(OBSL1):c.2407+3C>G rs370802978 0.00004
NM_015311.3(OBSL1):c.2449G>A (p.Val817Met) rs577797633 0.00004
NM_015311.3(OBSL1):c.2529C>T (p.Asp843=) rs765262040 0.00004
NM_015311.3(OBSL1):c.2637C>T (p.Cys879=) rs191852351 0.00004
NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) rs778567613 0.00004
NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) rs374693718 0.00004
NM_015311.3(OBSL1):c.3030G>A (p.Met1010Ile) rs368120133 0.00004
NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) rs755507712 0.00004
NM_015311.3(OBSL1):c.3292C>T (p.Arg1098Cys) rs768636811 0.00004
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) rs562419349 0.00004
NM_015311.3(OBSL1):c.3683G>A (p.Arg1228Gln) rs374527702 0.00004
NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) rs200837976 0.00004
NM_015311.3(OBSL1):c.4000G>A (p.Gly1334Arg) rs772929618 0.00004
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) rs374001837 0.00004
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) rs752693871 0.00004
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) rs769302847 0.00004
NM_015311.3(OBSL1):c.4336+17G>A rs753310153 0.00004
NM_015311.3(OBSL1):c.4861A>G (p.Arg1621Gly) rs372526149 0.00004
NM_015311.3(OBSL1):c.4943T>C (p.Phe1648Ser) rs199707413 0.00004
NM_015311.3(OBSL1):c.5086G>A (p.Gly1696Arg) rs1044064113 0.00004
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) rs755217589 0.00004
NM_015311.3(OBSL1):c.5414-10C>T rs201568270 0.00004
NM_015311.3(OBSL1):c.546C>T (p.Gly182=) rs778676610 0.00004
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) rs886055667 0.00004
NM_015311.3(OBSL1):c.705G>T (p.Ala235=) rs113717000 0.00004
NM_015311.3(OBSL1):c.831C>A (p.Ile277=) rs747467482 0.00004
NM_015311.3(OBSL1):c.1018C>T (p.Arg340Cys) rs199799438 0.00003
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) rs763498145 0.00003
NM_015311.3(OBSL1):c.1269C>T (p.Asn423=) rs755539040 0.00003
NM_015311.3(OBSL1):c.1480G>A (p.Glu494Lys) rs758572478 0.00003
NM_015311.3(OBSL1):c.1809C>T (p.His603=) rs768657041 0.00003
NM_015311.3(OBSL1):c.1971C>T (p.Asn657=) rs764229816 0.00003
NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) rs762604451 0.00003
NM_015311.3(OBSL1):c.2237C>T (p.Pro746Leu) rs868812326 0.00003
NM_015311.3(OBSL1):c.2394C>T (p.Gly798=) rs374208482 0.00003
NM_015311.3(OBSL1):c.241G>T (p.Val81Phe) rs775129122 0.00003
NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) rs781481635 0.00003
NM_015311.3(OBSL1):c.2641G>A (p.Ala881Thr) rs747110489 0.00003
NM_015311.3(OBSL1):c.2697C>T (p.Ile899=) rs745830430 0.00003
NM_015311.3(OBSL1):c.2954-16T>C rs759262829 0.00003
NM_015311.3(OBSL1):c.3043C>T (p.Arg1015Trp) rs376254367 0.00003
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) rs190405420 0.00003
NM_015311.3(OBSL1):c.3171C>T (p.Gly1057=) rs765709164 0.00003
NM_015311.3(OBSL1):c.3995G>A (p.Arg1332Gln) rs1402861976 0.00003
NM_015311.3(OBSL1):c.4067-7C>T rs757505929 0.00003
NM_015311.3(OBSL1):c.4164C>A (p.Ala1388=) rs767431762 0.00003
NM_015311.3(OBSL1):c.4338G>C (p.Glu1446Asp) rs764505533 0.00003
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) rs749067992 0.00003
NM_015311.3(OBSL1):c.4445G>A (p.Arg1482His) rs779614614 0.00003
NM_015311.3(OBSL1):c.4630C>T (p.Arg1544Trp) rs757409433 0.00003
NM_015311.3(OBSL1):c.4712A>T (p.Glu1571Val) rs758434311 0.00003
NM_015311.3(OBSL1):c.5177G>C (p.Arg1726Pro) rs1369924352 0.00003
NM_015311.3(OBSL1):c.5400del (p.Leu1801fs) rs794727230 0.00003
NM_015311.3(OBSL1):c.1057C>T (p.Arg353Cys) rs755753519 0.00002
NM_015311.3(OBSL1):c.1124G>A (p.Arg375His) rs779820021 0.00002
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) rs771196625 0.00002
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) rs564010604 0.00002
NM_015311.3(OBSL1):c.1270G>A (p.Val424Ile) rs754342154 0.00002
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) rs201913713 0.00002
NM_015311.3(OBSL1):c.1378C>T (p.Arg460Cys) rs369529642 0.00002
NM_015311.3(OBSL1):c.1466G>A (p.Arg489Gln) rs781710755 0.00002
NM_015311.3(OBSL1):c.1655G>A (p.Arg552Gln) rs774886081 0.00002
NM_015311.3(OBSL1):c.1911C>T (p.Leu637=) rs1431657167 0.00002
NM_015311.3(OBSL1):c.1987G>T (p.Val663Leu) rs1349568437 0.00002
NM_015311.3(OBSL1):c.2077G>C (p.Ala693Pro) rs774620411 0.00002
NM_015311.3(OBSL1):c.2163G>A (p.Gln721=) rs374306319 0.00002
NM_015311.3(OBSL1):c.2576G>A (p.Gly859Glu) rs370980487 0.00002
NM_015311.3(OBSL1):c.2789G>A (p.Arg930His) rs747776026 0.00002
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) rs558191826 0.00002
NM_015311.3(OBSL1):c.2829G>A (p.Ala943=) rs371742776 0.00002
NM_015311.3(OBSL1):c.3044G>A (p.Arg1015Gln) rs200288470 0.00002
NM_015311.3(OBSL1):c.3226+19A>G rs375793670 0.00002
NM_015311.3(OBSL1):c.3610G>A (p.Val1204Met) rs764979403 0.00002
NM_015311.3(OBSL1):c.3754G>A (p.Gly1252Arg) rs749065866 0.00002
NM_015311.3(OBSL1):c.3773T>G (p.Phe1258Cys) rs1432449471 0.00002
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) rs1057518717 0.00002
NM_015311.3(OBSL1):c.3974T>A (p.Val1325Glu) rs759293822 0.00002
NM_015311.3(OBSL1):c.3979C>T (p.Arg1327Trp) rs528102967 0.00002
NM_015311.3(OBSL1):c.4066+12C>T rs1553532839 0.00002
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) rs372036582 0.00002
NM_015311.3(OBSL1):c.4433C>T (p.Ala1478Val) rs187584538 0.00002
NM_015311.3(OBSL1):c.4603G>A (p.Val1535Met) rs772867533 0.00002
NM_015311.3(OBSL1):c.4610-10C>T rs895179572 0.00002
NM_015311.3(OBSL1):c.4610-7C>T rs749754662 0.00002
NM_015311.3(OBSL1):c.463C>T (p.Pro155Ser) rs547450690 0.00002
NM_015311.3(OBSL1):c.4897C>T (p.Arg1633Trp) rs191093745 0.00002
NM_015311.3(OBSL1):c.4940C>T (p.Thr1647Met) rs771909036 0.00002
NM_015311.3(OBSL1):c.4966T>C (p.Leu1656=) rs200575344 0.00002
NM_015311.3(OBSL1):c.4989+5G>A rs866308700 0.00002
NM_015311.3(OBSL1):c.500C>T (p.Ala167Val) rs1422198272 0.00002
NM_015311.3(OBSL1):c.5292C>G (p.Val1764=) rs776415153 0.00002
NM_015311.3(OBSL1):c.5446C>T (p.Arg1816Cys) rs760986158 0.00002
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) rs368349283 0.00002
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) rs751927713 0.00002
NM_015311.3(OBSL1):c.1019G>A (p.Arg340His) rs772619686 0.00001
NM_015311.3(OBSL1):c.1030A>G (p.Thr344Ala) rs199548396 0.00001
NM_015311.3(OBSL1):c.1065C>T (p.His355=) rs761441299 0.00001
NM_015311.3(OBSL1):c.1173G>A (p.Glu391=) rs773311659 0.00001
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) rs563580301 0.00001
NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) rs771801313 0.00001
NM_015311.3(OBSL1):c.136G>C (p.Glu46Gln) rs1026599495 0.00001
NM_015311.3(OBSL1):c.1406C>T (p.Pro469Leu) rs996195414 0.00001
NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) rs994677442 0.00001
NM_015311.3(OBSL1):c.1474G>A (p.Ala492Thr) rs747339260 0.00001
NM_015311.3(OBSL1):c.1479C>T (p.Gly493=) rs778142809 0.00001
NM_015311.3(OBSL1):c.1486A>G (p.Thr496Ala) rs779253235 0.00001
NM_015311.3(OBSL1):c.1535-3_1535-2del rs1396471922 0.00001
NM_015311.3(OBSL1):c.1549C>A (p.Pro517Thr) rs765875181 0.00001
NM_015311.3(OBSL1):c.1590C>T (p.His530=) rs145850612 0.00001
NM_015311.3(OBSL1):c.1674G>A (p.Val558=) rs781194904 0.00001
NM_015311.3(OBSL1):c.1708G>A (p.Glu570Lys) rs767094545 0.00001
NM_015311.3(OBSL1):c.1765C>G (p.Arg589Gly) rs751111284 0.00001
NM_015311.3(OBSL1):c.1766G>A (p.Arg589His) rs13414422 0.00001
NM_015311.3(OBSL1):c.1775T>A (p.Ile592Asn) rs757609176 0.00001
NM_015311.3(OBSL1):c.1972G>A (p.Glu658Lys) rs112487236 0.00001
NM_015311.3(OBSL1):c.1977G>A (p.Pro659=) rs374067113 0.00001
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter) rs775865076 0.00001
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) rs762452921 0.00001
NM_015311.3(OBSL1):c.2241A>C (p.Ala747=) rs375415154 0.00001
NM_015311.3(OBSL1):c.2278G>A (p.Glu760Lys) rs372464544 0.00001
NM_015311.3(OBSL1):c.2408-12C>T rs377578684 0.00001
NM_015311.3(OBSL1):c.2448C>T (p.Phe816=) rs763958335 0.00001
NM_015311.3(OBSL1):c.2467G>A (p.Glu823Lys) rs770552541 0.00001
NM_015311.3(OBSL1):c.2534A>T (p.Gln845Leu) rs765971382 0.00001
NM_015311.3(OBSL1):c.2593G>A (p.Val865Met) rs1335147149 0.00001
NM_015311.3(OBSL1):c.2653T>C (p.Cys885Arg) rs755891769 0.00001
NM_015311.3(OBSL1):c.2654G>T (p.Cys885Phe) rs1318341422 0.00001
NM_015311.3(OBSL1):c.2681-7C>T rs1193236223 0.00001
NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) rs772500074 0.00001
NM_015311.3(OBSL1):c.2735G>A (p.Arg912His) rs767824497 0.00001
NM_015311.3(OBSL1):c.2886C>T (p.Leu962=) rs757808976 0.00001
NM_015311.3(OBSL1):c.2899G>A (p.Glu967Lys) rs765321602 0.00001
NM_015311.3(OBSL1):c.2943C>T (p.Val981=) rs748974651 0.00001
NM_015311.3(OBSL1):c.2970C>T (p.Ile990=) rs779213441 0.00001
NM_015311.3(OBSL1):c.3067T>C (p.Tyr1023His) rs753558905 0.00001
NM_015311.3(OBSL1):c.3133C>T (p.Arg1045Cys) rs755849209 0.00001
NM_015311.3(OBSL1):c.3193G>A (p.Asp1065Asn) rs953189075 0.00001
NM_015311.3(OBSL1):c.3236A>T (p.Glu1079Val) rs775467805 0.00001
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) rs780996145 0.00001
NM_015311.3(OBSL1):c.3257C>T (p.Ala1086Val) rs1351448127 0.00001
NM_015311.3(OBSL1):c.3295G>A (p.Val1099Met) rs759494566 0.00001
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) rs560246798 0.00001
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) rs750782462 0.00001
NM_015311.3(OBSL1):c.3411C>A (p.Thr1137=) rs768282568 0.00001
NM_015311.3(OBSL1):c.3441C>T (p.Asp1147=) rs757026695 0.00001
NM_015311.3(OBSL1):c.3503-12T>C rs752591914 0.00001
NM_015311.3(OBSL1):c.3646G>A (p.Gly1216Ser) rs370695333 0.00001
NM_015311.3(OBSL1):c.3669C>T (p.Ala1223=) rs758235292 0.00001
NM_015311.3(OBSL1):c.380C>T (p.Ala127Val) rs886044075 0.00001
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) rs533142740 0.00001
NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) rs570704076 0.00001
NM_015311.3(OBSL1):c.3882C>T (p.Ser1294=) rs775340849 0.00001
NM_015311.3(OBSL1):c.3962G>T (p.Gly1321Val) rs886044557 0.00001
NM_015311.3(OBSL1):c.4023C>T (p.Cys1341=) rs749717075 0.00001
NM_015311.3(OBSL1):c.4092G>A (p.Ser1364=) rs562304796 0.00001
NM_015311.3(OBSL1):c.4093G>T (p.Glu1365Ter) rs760566452 0.00001
NM_015311.3(OBSL1):c.4138C>T (p.Arg1380Trp) rs771230527 0.00001
NM_015311.3(OBSL1):c.4184A>G (p.Asn1395Ser) rs777059636 0.00001
NM_015311.3(OBSL1):c.4322G>A (p.Arg1441Gln) rs758147867 0.00001
NM_015311.3(OBSL1):c.4396G>A (p.Val1466Met) rs1408776700 0.00001
NM_015311.3(OBSL1):c.4453C>T (p.Arg1485Ter) rs568750433 0.00001
NM_015311.3(OBSL1):c.4578C>T (p.His1526=) rs1422601813 0.00001
NM_015311.3(OBSL1):c.4644C>T (p.Asp1548=) rs777873721 0.00001
NM_015311.3(OBSL1):c.4848G>A (p.Leu1616=) rs1021188161 0.00001
NM_015311.3(OBSL1):c.4923C>T (p.Thr1641=) rs768061606 0.00001
NM_015311.3(OBSL1):c.4990-6C>T rs748975251 0.00001
NM_015311.3(OBSL1):c.5045G>T (p.Arg1682Leu) rs1479080818 0.00001
NM_015311.3(OBSL1):c.5176C>T (p.Arg1726Trp) rs762632990 0.00001
NM_015311.3(OBSL1):c.5191C>T (p.Arg1731Cys) rs958942749 0.00001
NM_015311.3(OBSL1):c.5209A>G (p.Thr1737Ala) rs772539285 0.00001
NM_015311.3(OBSL1):c.5341C>T (p.Arg1781Cys) rs766231551 0.00001
NM_015311.3(OBSL1):c.5355C>T (p.Ala1785=) rs1053639516 0.00001
NM_015311.3(OBSL1):c.5512C>T (p.His1838Tyr) rs1373001473 0.00001
NM_015311.3(OBSL1):c.5515G>T (p.Val1839Leu) rs762088079 0.00001
NM_015311.3(OBSL1):c.5554dup (p.Asp1852fs) rs766672074 0.00001
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) rs370898052 0.00001
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_015311.3(OBSL1):c.69G>A (p.Val23=) rs1475457879 0.00001
NM_015311.3(OBSL1):c.703G>A (p.Ala235Thr) rs201238889 0.00001
NM_015311.3(OBSL1):c.775G>C (p.Glu259Gln) rs1249067295 0.00001
NM_015311.3(OBSL1):c.822G>A (p.Glu274=) rs757776307 0.00001
NM_015311.3(OBSL1):c.935A>C (p.Lys312Thr) rs1697244489 0.00001
NC_000002.11:g.(?_220415557)_(220435954_?)del
NC_000002.11:g.(?_220427104)_(220435954_?)dup
NC_000002.11:g.(?_220434923)_(220435954_?)del
NM_015311.3(OBSL1):c.1007_1012+29del rs1025372068
NM_015311.3(OBSL1):c.1012+1G>T
NM_015311.3(OBSL1):c.1013-29_1017del rs2106103626
NM_015311.3(OBSL1):c.1032A>G (p.Thr344=)
NM_015311.3(OBSL1):c.1033C>T (p.Arg345Trp)
NM_015311.3(OBSL1):c.1041G>A (p.Leu347=)
NM_015311.3(OBSL1):c.1047C>T (p.Asp349=)
NM_015311.3(OBSL1):c.1066G>A (p.Gly356Arg)
NM_015311.3(OBSL1):c.1074C>G (p.Ala358=)
NM_015311.3(OBSL1):c.1076T>C (p.Val359Ala)
NM_015311.3(OBSL1):c.1102C>A (p.Arg368Ser) rs35009641
NM_015311.3(OBSL1):c.1103G>A (p.Arg368His)
NM_015311.3(OBSL1):c.1125T>C (p.Arg375=) rs1697065268
NM_015311.3(OBSL1):c.1129G>A (p.Asp377Asn) rs1461107874
NM_015311.3(OBSL1):c.1135C>T (p.Arg379Trp)
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) rs121918215
NM_015311.3(OBSL1):c.1155G>A (p.Lys385=)
NM_015311.3(OBSL1):c.1168G>A (p.Glu390Lys)
NM_015311.3(OBSL1):c.1172A>G (p.Glu391Gly)
NM_015311.3(OBSL1):c.1179T>C (p.Thr393=)
NM_015311.3(OBSL1):c.117G>A (p.Pro39=)
NM_015311.3(OBSL1):c.1194C>G (p.Ile398Met)
NM_015311.3(OBSL1):c.120G>A (p.Pro40=) rs750185925
NM_015311.3(OBSL1):c.1230C>G (p.Tyr410Ter)
NM_015311.3(OBSL1):c.1231C>T (p.Leu411=)
NM_015311.3(OBSL1):c.123T>A (p.Pro41=)
NM_015311.3(OBSL1):c.1251G>T (p.Arg417=)
NM_015311.3(OBSL1):c.1261G>C (p.Val421Leu) rs371966827
NM_015311.3(OBSL1):c.1266C>A (p.Ala422=)
NM_015311.3(OBSL1):c.1279A>C (p.Lys427Gln) rs766848633
NM_015311.3(OBSL1):c.1282+6C>G
NM_015311.3(OBSL1):c.1283-11C>T
NM_015311.3(OBSL1):c.1288A>G (p.Ile430Val)
NM_015311.3(OBSL1):c.1303C>A (p.Pro435Thr) rs1185397664
NM_015311.3(OBSL1):c.1305C>T (p.Pro435=)
NM_015311.3(OBSL1):c.1308G>A (p.Arg436=)
NM_015311.3(OBSL1):c.1315G>A (p.Asp439Asn)
NM_015311.3(OBSL1):c.1322T>A (p.Leu441Gln)
NM_015311.3(OBSL1):c.1334A>G (p.Asn445Ser) rs1243735552
NM_015311.3(OBSL1):c.1354A>G (p.Thr452Ala)
NM_015311.3(OBSL1):c.135G>A (p.Trp45Ter) rs1697317440
NM_015311.3(OBSL1):c.1371C>T (p.Val457=)
NM_015311.3(OBSL1):c.1406del (p.Pro469fs)
NM_015311.3(OBSL1):c.1407G>A (p.Pro469=)
NM_015311.3(OBSL1):c.1424G>A (p.Ser475Asn) rs1214483288
NM_015311.3(OBSL1):c.1427C>A (p.Ser476Ter) rs1321473082
NM_015311.3(OBSL1):c.147G>A (p.Gly49=)
NM_015311.3(OBSL1):c.1500C>G (p.Gly500=) rs546711079
NM_015311.3(OBSL1):c.1503C>T (p.Asn501=)
NM_015311.3(OBSL1):c.1517C>T (p.Thr506Met)
NM_015311.3(OBSL1):c.1518G>T (p.Thr506=)
NM_015311.3(OBSL1):c.1535-17C>A
NM_015311.3(OBSL1):c.1538T>C (p.Val513Ala)
NM_015311.3(OBSL1):c.1544A>G (p.His515Arg) rs769329855
NM_015311.3(OBSL1):c.1554A>G (p.Pro518=)
NM_015311.3(OBSL1):c.1558C>A (p.Pro520Thr)
NM_015311.3(OBSL1):c.1579T>C (p.Phe527Leu) rs2106097367
NM_015311.3(OBSL1):c.1584G>C (p.Lys528Asn)
NM_015311.3(OBSL1):c.1598C>G (p.Thr533Arg)
NM_015311.3(OBSL1):c.1598C>T (p.Thr533Met)
NM_015311.3(OBSL1):c.1624G>A (p.Glu542Lys)
NM_015311.3(OBSL1):c.1654C>T (p.Arg552Trp)
NM_015311.3(OBSL1):c.1685A>G (p.Asp562Gly)
NM_015311.3(OBSL1):c.1698C>T (p.Cys566=)
NM_015311.3(OBSL1):c.1705A>T (p.Ile569Phe) rs1331331953
NM_015311.3(OBSL1):c.1716C>T (p.Ala572=)
NM_015311.3(OBSL1):c.1737C>A (p.Gly579=) rs374019271
NM_015311.3(OBSL1):c.1738G>A (p.Asp580Asn)
NM_015311.3(OBSL1):c.1742G>A (p.Cys581Tyr)
NM_015311.3(OBSL1):c.1743T>C (p.Cys581=)
NM_015311.3(OBSL1):c.1749C>T (p.Pro583=)
NM_015311.3(OBSL1):c.1752C>A (p.Ser584=)
NM_015311.3(OBSL1):c.1752C>T (p.Ser584=)
NM_015311.3(OBSL1):c.1764C>T (p.Tyr588=) rs112837511
NM_015311.3(OBSL1):c.1772G>A (p.Arg591His)
NM_015311.3(OBSL1):c.1789G>A (p.Gly597Arg)
NM_015311.3(OBSL1):c.1792C>A (p.His598Asn) rs766580836
NM_015311.3(OBSL1):c.1797C>G (p.Gly599=) rs1696979610
NM_015311.3(OBSL1):c.1799G>A (p.Arg600His)
NM_015311.3(OBSL1):c.1806C>T (p.Pro602=)
NM_015311.3(OBSL1):c.180C>T (p.Phe60=)
NM_015311.3(OBSL1):c.1820A>G (p.His607Arg)
NM_015311.3(OBSL1):c.1826C>T (p.Ser609Phe)
NM_015311.3(OBSL1):c.1827T>G (p.Ser609=)
NM_015311.3(OBSL1):c.1837+15C>T
NM_015311.3(OBSL1):c.1837+20C>T
NM_015311.3(OBSL1):c.1838-20G>A
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) rs369705959
NM_015311.3(OBSL1):c.1881A>G (p.Val627=)
NM_015311.3(OBSL1):c.1882T>C (p.Tyr628His)
NM_015311.3(OBSL1):c.1885G>A (p.Asp629Asn) rs201333768
NM_015311.3(OBSL1):c.1885G>C (p.Asp629His) rs201333768
NM_015311.3(OBSL1):c.188A>G (p.Asp63Gly) rs1364672065
NM_015311.3(OBSL1):c.189C>A (p.Asp63Glu)
NM_015311.3(OBSL1):c.1912_1913delinsAG (p.Asp638Ser)
NM_015311.3(OBSL1):c.1919C>G (p.Ser640Cys)
NM_015311.3(OBSL1):c.1935T>C (p.Gly645=) rs2106093651
NM_015311.3(OBSL1):c.1954del (p.Glu652fs) rs886041519
NM_015311.3(OBSL1):c.1976C>A (p.Pro659Gln) rs372539462
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs) rs1553537027
NM_015311.3(OBSL1):c.2023A>G (p.Lys675Glu)
NM_015311.3(OBSL1):c.2042T>C (p.Leu681Pro) rs2106092813
NM_015311.3(OBSL1):c.2073C>T (p.Ser691=)
NM_015311.3(OBSL1):c.2098C>A (p.Pro700Thr)
NM_015311.3(OBSL1):c.209T>C (p.Leu70Pro)
NM_015311.3(OBSL1):c.2100_2122del (p.Gly701fs)
NM_015311.3(OBSL1):c.2116G>C (p.Ala706Pro)
NM_015311.3(OBSL1):c.2134+1G>A rs1696928123
NM_015311.3(OBSL1):c.2134+94T>G rs62191614
NM_015311.3(OBSL1):c.2135-14T>C rs202092945
NM_015311.3(OBSL1):c.2135-7CA[2] rs140112967
NM_015311.3(OBSL1):c.2135-8C>T
NM_015311.3(OBSL1):c.2143G>A (p.Val715Met)
NM_015311.3(OBSL1):c.2197C>T (p.Arg733Trp)
NM_015311.3(OBSL1):c.2203G>T (p.Val735Leu)
NM_015311.3(OBSL1):c.2237C>G (p.Pro746Arg)
NM_015311.3(OBSL1):c.2251A>C (p.Lys751Gln)
NM_015311.3(OBSL1):c.2259G>A (p.Gly753=) rs1477822555
NM_015311.3(OBSL1):c.2266G>A (p.Val756Met)
NM_015311.3(OBSL1):c.2278G>T (p.Glu760Ter)
NM_015311.3(OBSL1):c.2281T>C (p.Leu761=)
NM_015311.3(OBSL1):c.2306G>T (p.Arg769Leu) rs372837798
NM_015311.3(OBSL1):c.2311C>G (p.His771Asp) rs768945071
NM_015311.3(OBSL1):c.2382G>A (p.Ser794=)
NM_015311.3(OBSL1):c.2400T>C (p.Thr800=)
NM_015311.3(OBSL1):c.2406A>C (p.Gln802His)
NM_015311.3(OBSL1):c.2407+18C>T
NM_015311.3(OBSL1):c.2407+281C>G rs11692887
NM_015311.3(OBSL1):c.2408-32T>A rs2303543
NM_015311.3(OBSL1):c.2415C>A (p.Pro805=)
NM_015311.3(OBSL1):c.2415C>T (p.Pro805=)
NM_015311.3(OBSL1):c.2416G>A (p.Val806Met)
NM_015311.3(OBSL1):c.2418G>A (p.Val806=) rs2106074669
NM_015311.3(OBSL1):c.241del (p.Val81fs) rs1697309952
NM_015311.3(OBSL1):c.2424C>A (p.Ile808=) rs373392804
NM_015311.3(OBSL1):c.2424C>T (p.Ile808=) rs373392804
NM_015311.3(OBSL1):c.2435G>A (p.Arg812Gln)
NM_015311.3(OBSL1):c.2487T>C (p.Cys829=)
NM_015311.3(OBSL1):c.2539G>A (p.Val847Met) rs1696652504
NM_015311.3(OBSL1):c.2549G>A (p.Ser850Asn) rs1050651649
NM_015311.3(OBSL1):c.2551G>T (p.Asp851Tyr)
NM_015311.3(OBSL1):c.2556C>T (p.Phe852=)
NM_015311.3(OBSL1):c.2567A>T (p.Glu856Val)
NM_015311.3(OBSL1):c.256G>A (p.Ala86Thr) rs1198788222
NM_015311.3(OBSL1):c.2575G>A (p.Gly859Arg)
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) rs2106073376
NM_015311.3(OBSL1):c.2580C>T (p.Pro860=)
NM_015311.3(OBSL1):c.259del (p.Arg87fs) rs2106118762
NM_015311.3(OBSL1):c.2601C>G (p.Pro867=) rs201312475
NM_015311.3(OBSL1):c.2610G>A (p.Gln870=) rs2106073097
NM_015311.3(OBSL1):c.2666C>T (p.Thr889Ile)
NM_015311.3(OBSL1):c.2680+8del rs1559147645
NM_015311.3(OBSL1):c.2681-12C>T
NM_015311.3(OBSL1):c.2691G>A (p.Ser897=)
NM_015311.3(OBSL1):c.2698G>A (p.Val900Met) rs530639786
NM_015311.3(OBSL1):c.2715G>T (p.Lys905Asn) rs777459986
NM_015311.3(OBSL1):c.2724G>A (p.Val908=)
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.2730C>T (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.2734C>T (p.Arg912Cys)
NM_015311.3(OBSL1):c.2757C>G (p.Thr919=) rs1247524310
NM_015311.3(OBSL1):c.2766A>G (p.Leu922=)
NM_015311.3(OBSL1):c.2771G>A (p.Arg924Gln)
NM_015311.3(OBSL1):c.2780C>T (p.Ala927Val)
NM_015311.3(OBSL1):c.2785G>A (p.Val929Met)
NM_015311.3(OBSL1):c.2787G>A (p.Val929=)
NM_015311.3(OBSL1):c.2800G>T (p.Asp934Tyr)
NM_015311.3(OBSL1):c.2809_2869dup (p.Leu957fs) rs2106066357
NM_015311.3(OBSL1):c.2830C>A (p.Leu944Met)
NM_015311.3(OBSL1):c.2833del (p.Leu945fs)
NM_015311.3(OBSL1):c.2895C>G (p.Ser965=)
NM_015311.3(OBSL1):c.2895C>T (p.Ser965=)
NM_015311.3(OBSL1):c.2907G>T (p.Leu969Phe)
NM_015311.3(OBSL1):c.2909G>A (p.Cys970Tyr)
NM_015311.3(OBSL1):c.2914A>G (p.Ile972Val) rs754310562
NM_015311.3(OBSL1):c.2919C>T (p.Asp973=)
NM_015311.3(OBSL1):c.2920G>A (p.Asp974Asn)
NM_015311.3(OBSL1):c.2928G>A (p.Ser976=)
NM_015311.3(OBSL1):c.2947G>A (p.Val983Ile)
NM_015311.3(OBSL1):c.2953+756dup rs5838741
NM_015311.3(OBSL1):c.2954-7C>A rs1696305125
NM_015311.3(OBSL1):c.2966G>A (p.Arg989Gln)
NM_015311.3(OBSL1):c.2974T>C (p.Tyr992His)
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) rs749541061
NM_015311.3(OBSL1):c.2982C>T (p.Arg994=)
NM_015311.3(OBSL1):c.2998_3012del (p.Ile1000_Leu1004del) rs779549572
NM_015311.3(OBSL1):c.3000C>T (p.Ile1000=)
NM_015311.3(OBSL1):c.3004G>A (p.Val1002Met)
NM_015311.3(OBSL1):c.302T>A (p.Val101Glu) rs2106118426
NM_015311.3(OBSL1):c.305T>A (p.Leu102Gln)
NM_015311.3(OBSL1):c.3061C>G (p.Arg1021Gly)
NM_015311.3(OBSL1):c.3061C>T (p.Arg1021Cys) rs555893343
NM_015311.3(OBSL1):c.306G>A (p.Leu102=)
NM_015311.3(OBSL1):c.3090G>A (p.Glu1030=)
NM_015311.3(OBSL1):c.3096C>T (p.Ser1032=)
NM_015311.3(OBSL1):c.3117G>T (p.Arg1039Ser)
NM_015311.3(OBSL1):c.3118G>A (p.Asp1040Asn)
NM_015311.3(OBSL1):c.3120T>C (p.Asp1040=)
NM_015311.3(OBSL1):c.3125C>T (p.Pro1042Leu) rs368412979
NM_015311.3(OBSL1):c.3172G>C (p.Glu1058Gln) rs759912848
NM_015311.3(OBSL1):c.3201G>A (p.Ser1067=)
NM_015311.3(OBSL1):c.3226+178G>C rs67138719
NM_015311.3(OBSL1):c.3227-6C>A rs2106040697
NM_015311.3(OBSL1):c.3228C>T (p.Ala1076=)
NM_015311.3(OBSL1):c.3240G>A (p.Arg1080=)
NM_015311.3(OBSL1):c.325C>G (p.Pro109Ala) rs1369471565
NM_015311.3(OBSL1):c.3264C>T (p.Ser1088=) rs765892626
NM_015311.3(OBSL1):c.3271C>A (p.Leu1091Met)
NM_015311.3(OBSL1):c.3278T>G (p.Phe1093Cys) rs754353021
NM_015311.3(OBSL1):c.3294C>T (p.Arg1098=)
NM_015311.3(OBSL1):c.3309T>C (p.Cys1103=) rs1574541178
NM_015311.3(OBSL1):c.3310G>A (p.Glu1104Lys)
NM_015311.3(OBSL1):c.331_332delinsGG (p.Leu111Gly) rs2106118192
NM_015311.3(OBSL1):c.3336G>A (p.Val1112=)
NM_015311.3(OBSL1):c.3345C>T (p.Tyr1115=) rs2106039679
NM_015311.3(OBSL1):c.3351C>T (p.Asp1117=)
NM_015311.3(OBSL1):c.3352G>A (p.Gly1118Arg)
NM_015311.3(OBSL1):c.3393C>G (p.Ala1131=)
NM_015311.3(OBSL1):c.3393C>T (p.Ala1131=)
NM_015311.3(OBSL1):c.3394G>A (p.Glu1132Lys) rs746067378
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) rs1449351602
NM_015311.3(OBSL1):c.3403A>T (p.Thr1135Ser)
NM_015311.3(OBSL1):c.3428C>T (p.Ala1143Val)
NM_015311.3(OBSL1):c.3430C>A (p.Gln1144Lys)
NM_015311.3(OBSL1):c.343G>A (p.Glu115Lys)
NM_015311.3(OBSL1):c.3454G>A (p.Val1152Met) rs760689080
NM_015311.3(OBSL1):c.3455T>A (p.Val1152Glu)
NM_015311.3(OBSL1):c.3456G>A (p.Val1152=) rs2106038824
NM_015311.3(OBSL1):c.3459_3460del (p.Cys1153_Glu1154delinsTer) rs757802630
NM_015311.3(OBSL1):c.345G>A (p.Glu115=)
NM_015311.3(OBSL1):c.3488A>T (p.Asn1163Ile)
NM_015311.3(OBSL1):c.3503-6C>A rs201241778
NM_015311.3(OBSL1):c.3503-6C>T
NM_015311.3(OBSL1):c.3528A>G (p.Leu1176=)
NM_015311.3(OBSL1):c.3533C>T (p.Thr1178Ile)
NM_015311.3(OBSL1):c.3545C>T (p.Pro1182Leu)
NM_015311.3(OBSL1):c.3561T>G (p.Pro1187=) rs2278201
NM_015311.3(OBSL1):c.3590T>G (p.Leu1197Arg)
NM_015311.3(OBSL1):c.3596G>A (p.Arg1199Gln)
NM_015311.3(OBSL1):c.3599C>G (p.Ala1200Gly) rs373804245
NM_015311.3(OBSL1):c.35C>A (p.Pro12Gln)
NM_015311.3(OBSL1):c.35dup (p.Cys13fs) rs752401295
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
NM_015311.3(OBSL1):c.3613G>T (p.Val1205Phe)
NM_015311.3(OBSL1):c.3621C>T (p.Ser1207=)
NM_015311.3(OBSL1):c.3648C>T (p.Gly1216=)
NM_015311.3(OBSL1):c.3675C>A (p.Gly1225=)
NM_015311.3(OBSL1):c.3677C>G (p.Pro1226Arg) rs778594059
NM_015311.3(OBSL1):c.3678C>T (p.Pro1226=) rs1444575773
NM_015311.3(OBSL1):c.3682C>A (p.Arg1228=)
NM_015311.3(OBSL1):c.3691T>G (p.Cys1231Gly)
NM_015311.3(OBSL1):c.3695T>C (p.Ile1232Thr)
NM_015311.3(OBSL1):c.3709C>T (p.Pro1237Ser)
NM_015311.3(OBSL1):c.3717T>C (p.His1239=) rs564194984
NM_015311.3(OBSL1):c.3720A>G (p.Ala1240=)
NM_015311.3(OBSL1):c.3721G>A (p.Gly1241Arg)
NM_015311.3(OBSL1):c.3731C>T (p.Thr1244Ile)
NM_015311.3(OBSL1):c.3746C>T (p.Ala1249Val) rs1207083047
NM_015311.3(OBSL1):c.3768C>A (p.Leu1256=)
NM_015311.3(OBSL1):c.3772T>C (p.Phe1258Leu)
NM_015311.3(OBSL1):c.3775A>G (p.Thr1259Ala)
NM_015311.3(OBSL1):c.3777C>T (p.Thr1259=)
NM_015311.3(OBSL1):c.3791-60G>C rs2278200
NM_015311.3(OBSL1):c.3792G>T (p.Glu1264Asp) rs1003996859
NM_015311.3(OBSL1):c.3828G>T (p.Gln1276His) rs1472775954
NM_015311.3(OBSL1):c.3830C>T (p.Thr1277Met) rs778186984
NM_015311.3(OBSL1):c.3831G>A (p.Thr1277=)
NM_015311.3(OBSL1):c.3883G>A (p.Gly1295Arg) rs530576939
NM_015311.3(OBSL1):c.3891G>A (p.Gly1297=)
NM_015311.3(OBSL1):c.3898G>A (p.Val1300Ile) rs956091480
NM_015311.3(OBSL1):c.3901C>T (p.Arg1301Cys)
NM_015311.3(OBSL1):c.3915C>T (p.Asp1305=)
NM_015311.3(OBSL1):c.3916G>A (p.Gly1306Arg)
NM_015311.3(OBSL1):c.3923G>A (p.Arg1308Gln)
NM_015311.3(OBSL1):c.3950T>G (p.Leu1317Arg)
NM_015311.3(OBSL1):c.3951G>C (p.Leu1317=) rs775463681
NM_015311.3(OBSL1):c.3960C>T (p.Ala1320=)
NM_015311.3(OBSL1):c.3962G>C (p.Gly1321Ala)
NM_015311.3(OBSL1):c.3965C>T (p.Ala1322Val)
NM_015311.3(OBSL1):c.3969G>A (p.Arg1323=)
NM_015311.3(OBSL1):c.396G>C (p.Thr132=)
NM_015311.3(OBSL1):c.3974T>C (p.Val1325Ala)
NM_015311.3(OBSL1):c.3982G>A (p.Val1328Met)
NM_015311.3(OBSL1):c.3988G>A (p.Gly1330Arg)
NM_015311.3(OBSL1):c.3996G>A (p.Arg1332=)
NM_015311.3(OBSL1):c.399G>C (p.Gly133=)
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) rs375716830
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) rs375716830
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) rs557890380
NM_015311.3(OBSL1):c.4042C>T (p.Arg1348Cys)
NM_015311.3(OBSL1):c.4043G>A (p.Arg1348His)
NM_015311.3(OBSL1):c.4050C>T (p.Phe1350=)
NM_015311.3(OBSL1):c.4066+13C>T
NM_015311.3(OBSL1):c.4066+17C>T rs1203284030
NM_015311.3(OBSL1):c.4067-11G>A rs1983211
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015311.3(OBSL1):c.4067-17C>A
NM_015311.3(OBSL1):c.4087G>T (p.Val1363Phe)
NM_015311.3(OBSL1):c.4091C>T (p.Ser1364Leu)
NM_015311.3(OBSL1):c.4115A>G (p.His1372Arg)
NM_015311.3(OBSL1):c.4116C>T (p.His1372=)
NM_015311.3(OBSL1):c.4139G>A (p.Arg1380Gln) rs202001381
NM_015311.3(OBSL1):c.4143T>C (p.Cys1381=)
NM_015311.3(OBSL1):c.4164C>T (p.Ala1388=)
NM_015311.3(OBSL1):c.4172C>T (p.Thr1391Ile)
NM_015311.3(OBSL1):c.4198_4199del (p.Thr1400fs) rs775310530
NM_015311.3(OBSL1):c.4209C>T (p.Pro1403=)
NM_015311.3(OBSL1):c.423G>C (p.Arg141=)
NM_015311.3(OBSL1):c.4240C>T (p.Arg1414Cys)
NM_015311.3(OBSL1):c.426G>C (p.Gly142=)
NM_015311.3(OBSL1):c.4271G>A (p.Gly1424Glu)
NM_015311.3(OBSL1):c.4294C>T (p.Arg1432Trp) rs774564230
NM_015311.3(OBSL1):c.4295G>A (p.Arg1432Gln)
NM_015311.3(OBSL1):c.4308G>A (p.Thr1436=)
NM_015311.3(OBSL1):c.4336+20_4336+24del
NM_015311.3(OBSL1):c.4337-11_4337-9del
NM_015311.3(OBSL1):c.433G>A (p.Val145Met)
NM_015311.3(OBSL1):c.4347G>C (p.Leu1449=) rs1226962673
NM_015311.3(OBSL1):c.4349T>C (p.Leu1450Pro)
NM_015311.3(OBSL1):c.4373T>A (p.Val1458Glu)
NM_015311.3(OBSL1):c.438G>A (p.Val146=)
NM_015311.3(OBSL1):c.4396del (p.Val1466fs)
NM_015311.3(OBSL1):c.4405G>A (p.Glu1469Lys)
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) rs752057894
NM_015311.3(OBSL1):c.4421G>A (p.Arg1474Gln)
NM_015311.3(OBSL1):c.444G>A (p.Thr148=) rs2106117284
NM_015311.3(OBSL1):c.4513C>T (p.His1505Tyr)
NM_015311.3(OBSL1):c.4517G>A (p.Arg1506His)
NM_015311.3(OBSL1):c.4534G>A (p.Val1512Ile)
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_015311.3(OBSL1):c.4542G>A (p.Leu1514=) rs1695976446
NM_015311.3(OBSL1):c.4567G>A (p.Glu1523Lys) rs368547852
NM_015311.3(OBSL1):c.4573C>T (p.His1525Tyr)
NM_015311.3(OBSL1):c.4582C>G (p.Arg1528Gly) rs765149186
NM_015311.3(OBSL1):c.4584C>T (p.Arg1528=)
NM_015311.3(OBSL1):c.458dup (p.Leu154fs) rs767237510
NM_015311.3(OBSL1):c.4590G>C (p.Leu1530=)
NM_015311.3(OBSL1):c.4600A>C (p.Ser1534Arg) rs2106023670
NM_015311.3(OBSL1):c.4602C>T (p.Ser1534=)
NM_015311.3(OBSL1):c.4605G>C (p.Val1535=) rs2106023629
NM_015311.3(OBSL1):c.4609+14C>A
NM_015311.3(OBSL1):c.4609+17C>G rs2106023488
NM_015311.3(OBSL1):c.4609+18_4609+33del
NM_015311.3(OBSL1):c.4609+1G>A rs371718828
NM_015311.3(OBSL1):c.4610-13C>T
NM_015311.3(OBSL1):c.4610-247T>C rs4672935
NM_015311.3(OBSL1):c.4642del (p.Asp1548fs) rs2106017606
NM_015311.3(OBSL1):c.4645G>A (p.Val1549Met)
NM_015311.3(OBSL1):c.4689_4690dup (p.Ser1564fs)
NM_015311.3(OBSL1):c.469C>T (p.Pro157Ser)
NM_015311.3(OBSL1):c.4702G>A (p.Val1568Met)
NM_015311.3(OBSL1):c.4732_4733inv (p.Gln1578Trp)
NM_015311.3(OBSL1):c.4739A>T (p.Tyr1580Phe) rs1298402217
NM_015311.3(OBSL1):c.4764C>G (p.His1588Gln) rs1481073895
NM_015311.3(OBSL1):c.4771G>A (p.Gly1591Ser)
NM_015311.3(OBSL1):c.4776C>T (p.His1592=)
NM_015311.3(OBSL1):c.4783C>T (p.Arg1595Ter) rs200174777
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) rs564855597
NM_015311.3(OBSL1):c.4830C>T (p.Ser1610=)
NM_015311.3(OBSL1):c.4835_4836inv (p.Thr1612Met)
NM_015311.3(OBSL1):c.4846C>T (p.Leu1616=)
NM_015311.3(OBSL1):c.4847T>G (p.Leu1616Arg)
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) rs375418681
NM_015311.3(OBSL1):c.4870G>C (p.Val1624Leu) rs558700334
NM_015311.3(OBSL1):c.4876+5G>A
NM_015311.3(OBSL1):c.4877-5C>T
NM_015311.3(OBSL1):c.4893C>A (p.Ile1631=) rs770935107
NM_015311.3(OBSL1):c.4894G>A (p.Val1632Met)
NM_015311.3(OBSL1):c.4930G>A (p.Asp1644Asn)
NM_015311.3(OBSL1):c.4944C>T (p.Phe1648=) rs576820480
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_015311.3(OBSL1):c.4975G>A (p.Val1659Ile) rs1695789278
NM_015311.3(OBSL1):c.4989+15C>G
NM_015311.3(OBSL1):c.4989+8C>A rs2106013192
NM_015311.3(OBSL1):c.4994G>C (p.Gly1665Ala) rs2106011280
NM_015311.3(OBSL1):c.5007G>A (p.Thr1669=) rs2106011215
NM_015311.3(OBSL1):c.5015C>G (p.Pro1672Arg) rs769394823
NM_015311.3(OBSL1):c.5031G>A (p.Gln1677=)
NM_015311.3(OBSL1):c.5060T>G (p.Leu1687Arg)
NM_015311.3(OBSL1):c.5062C>A (p.Arg1688=)
NM_015311.3(OBSL1):c.5082C>T (p.Asp1694=)
NM_015311.3(OBSL1):c.5117G>C (p.Arg1706Pro)
NM_015311.3(OBSL1):c.5146+18T>C
NM_015311.3(OBSL1):c.5146G>C (p.Glu1716Gln)
NM_015311.3(OBSL1):c.5147-14_5147-3dup rs1485067642
NM_015311.3(OBSL1):c.5152A>G (p.Thr1718Ala)
NM_015311.3(OBSL1):c.5154T>G (p.Thr1718=)
NM_015311.3(OBSL1):c.5157G>A (p.Val1719=)
NM_015311.3(OBSL1):c.5169C>A (p.Ser1723=)
NM_015311.3(OBSL1):c.5174T>A (p.Leu1725Gln) rs1163999625
NM_015311.3(OBSL1):c.5180C>T (p.Ser1727Leu)
NM_015311.3(OBSL1):c.5186G>A (p.Ser1729Asn) rs2106009564
NM_015311.3(OBSL1):c.5199C>T (p.Gly1733=)
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) rs199594182
NM_015311.3(OBSL1):c.5210C>T (p.Thr1737Met) rs199594182
NM_015311.3(OBSL1):c.5211G>A (p.Thr1737=) rs2106009398
NM_015311.3(OBSL1):c.5223C>G (p.Thr1741=)
NM_015311.3(OBSL1):c.5247G>T (p.Gly1749=)
NM_015311.3(OBSL1):c.5281G>A (p.Gly1761Arg)
NM_015311.3(OBSL1):c.5309-11C>G
NM_015311.3(OBSL1):c.5309-12C>G
NM_015311.3(OBSL1):c.5325G>C (p.Leu1775=)
NM_015311.3(OBSL1):c.537C>T (p.Leu179=)
NM_015311.3(OBSL1):c.5385C>G (p.Ala1795=)
NM_015311.3(OBSL1):c.5400A>G (p.Leu1800=) rs886055657
NM_015311.3(OBSL1):c.5404G>C (p.Glu1802Gln)
NM_015311.3(OBSL1):c.5412G>C (p.Glu1804Asp)
NM_015311.3(OBSL1):c.5414-15G>A
NM_015311.3(OBSL1):c.5414-8A>C
NM_015311.3(OBSL1):c.5453A>C (p.Lys1818Thr)
NM_015311.3(OBSL1):c.5457C>T (p.Thr1819=)
NM_015311.3(OBSL1):c.5469C>T (p.Gly1823=)
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) rs201113762
NM_015311.3(OBSL1):c.5510del (p.Gly1837fs) rs755333275
NM_015311.3(OBSL1):c.5550G>A (p.Pro1850=)
NM_015311.3(OBSL1):c.5573G>C (p.Ser1858Thr) rs2106004705
NM_015311.3(OBSL1):c.5589C>T (p.His1863=)
NM_015311.3(OBSL1):c.5612G>A (p.Arg1871Gln)
NM_015311.3(OBSL1):c.5641C>G (p.Gln1881Glu)
NM_015311.3(OBSL1):c.5646C>G (p.Ala1882=)
NM_015311.3(OBSL1):c.564C>G (p.Pro188=)
NM_015311.3(OBSL1):c.5653G>A (p.Asp1885Asn)
NM_015311.3(OBSL1):c.5656A>G (p.Ser1886Gly)
NM_015311.3(OBSL1):c.5684-37TC[2] rs146790993
NM_015311.3(OBSL1):c.578C>T (p.Ala193Val) rs1267702779
NM_015311.3(OBSL1):c.590T>C (p.Leu197Pro) rs531223966
NM_015311.3(OBSL1):c.599G>C (p.Arg200Pro) rs2106116161
NM_015311.3(OBSL1):c.605C>G (p.Pro202Arg)
NM_015311.3(OBSL1):c.630C>A (p.His210Gln)
NM_015311.3(OBSL1):c.653C>T (p.Ala218Val)
NM_015311.3(OBSL1):c.677T>C (p.Val226Ala) rs778764582
NM_015311.3(OBSL1):c.691G>T (p.Glu231Ter)
NM_015311.3(OBSL1):c.708C>T (p.Asp236=) rs2106115275
NM_015311.3(OBSL1):c.715G>A (p.Glu239Lys) rs2106115186
NM_015311.3(OBSL1):c.718G>A (p.Ala240Thr)
NM_015311.3(OBSL1):c.728C>A (p.Pro243Gln)
NM_015311.3(OBSL1):c.740C>G (p.Pro247Arg) rs992455888
NM_015311.3(OBSL1):c.744C>G (p.Leu248=)
NM_015311.3(OBSL1):c.764_766del (p.Phe255del) rs765879230
NM_015311.3(OBSL1):c.772A>G (p.Asn258Asp) rs1697261119
NM_015311.3(OBSL1):c.799dup (p.Cys267fs) rs2106114422
NM_015311.3(OBSL1):c.82G>A (p.Glu28Lys)
NM_015311.3(OBSL1):c.855G>A (p.Pro285=)
NM_015311.3(OBSL1):c.885C>T (p.Tyr295=)
NM_015311.3(OBSL1):c.892C>T (p.Arg298Cys)
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) rs780389591
NM_015311.3(OBSL1):c.962C>G (p.Ala321Gly)
NM_015311.3(OBSL1):c.962C>T (p.Ala321Val)
NM_015311.3(OBSL1):c.978C>G (p.Gly326=) rs2106112941
NM_015311.3(OBSL1):c.978C>T (p.Gly326=) rs2106112941
NM_015311.3(OBSL1):c.982A>G (p.Thr328Ala) rs759218624

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