ClinVar Miner

List of variants in gene CNGB1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1130
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.875-39C>T rs152143 0.98924
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_001297.5(CNGB1):c.217+46G>A rs3859043 0.71272
NM_001297.5(CNGB1):c.838-36G>A rs503686 0.66487
NM_001297.5(CNGB1):c.1801+23T>C rs166000 0.63352
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49394
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001297.5(CNGB1):c.3462+7T>C rs11076207 0.37846
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36916
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.31387
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_001297.5(CNGB1):c.534+20G>A rs2288485 0.17092
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_001297.5(CNGB1):c.*310T>C rs57309302 0.11688
NM_001297.5(CNGB1):c.*33A>G rs13338071 0.11360
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.09003
NM_001297.5(CNGB1):c.*595C>G rs79806773 0.06925
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) rs35424571 0.06391
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05861
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04422
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) rs61997173 0.03447
NM_001297.5(CNGB1):c.534+7C>G rs16959600 0.03025
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03012
NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) rs17821412 0.02990
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) rs16959602 0.02909
NM_001297.5(CNGB1):c.2892+6C>T rs16942441 0.02754
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372 0.02335
NM_001297.5(CNGB1):c.218-18T>C rs115569700 0.02150
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02046
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) rs61997250 0.01885
NM_001297.5(CNGB1):c.*281T>C rs116564376 0.01516
NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) rs11867123 0.01433
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) rs61745888 0.01420
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) rs76788887 0.01379
NM_001297.5(CNGB1):c.1643+13del rs3217335 0.01152
NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) rs77399988 0.01073
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) rs73562944 0.00971
NM_001297.5(CNGB1):c.1373-11C>A rs2303782 0.00856
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00762
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) rs72782250 0.00722
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=) rs75406397 0.00513
NM_001297.5(CNGB1):c.1122-18C>T rs79540781 0.00494
NM_001297.5(CNGB1):c.123G>A (p.Pro41=) rs41482547 0.00487
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_001297.5(CNGB1):c.-47A>G rs186471030 0.00462
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00376
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) rs1052029 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00304
NM_001297.5(CNGB1):c.159+14C>T rs199591689 0.00255
NM_001297.5(CNGB1):c.3147C>T (p.His1049=) rs200581517 0.00255
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) rs78292723 0.00242
NM_001297.5(CNGB1):c.761+15A>G rs187864931 0.00227
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) rs200332871 0.00219
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) rs200242407 0.00213
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=) rs200934249 0.00180
NM_001297.5(CNGB1):c.2514T>C (p.Phe838=) rs370767664 0.00178
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) rs140907154 0.00175
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) rs201407276 0.00124
NM_001297.5(CNGB1):c.1288G>A (p.Glu430Lys) rs189230735 0.00118
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_001297.5(CNGB1):c.2492+19C>G rs184343851 0.00096
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) rs539304668 0.00075
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=) rs185729258 0.00074
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) rs201186180 0.00066
NM_001297.5(CNGB1):c.635C>T (p.Thr212Ile) rs376293844 0.00059
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) rs199583058 0.00054
NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=) rs202083169 0.00052
NM_001297.5(CNGB1):c.217+6T>C rs148191900 0.00051
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00050
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00044
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) rs201203400 0.00039
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala) rs201909863 0.00039
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00038
NM_001297.5(CNGB1):c.2850C>T (p.Ile950=) rs563734833 0.00038
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001297.5(CNGB1):c.3114C>T (p.Gly1038=) rs142930143 0.00036
NM_001297.5(CNGB1):c.1209+17G>A rs372846873 0.00033
NM_001297.5(CNGB1):c.933G>A (p.Pro311=) rs557276296 0.00032
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) rs2303783 0.00031
NM_001297.5(CNGB1):c.412+8C>A rs185727761 0.00030
NM_001297.5(CNGB1):c.2029C>T (p.Arg677Cys) rs368329828 0.00029
NM_001297.5(CNGB1):c.1472C>T (p.Pro491Leu) rs199960733 0.00025
NM_001297.5(CNGB1):c.2054C>T (p.Pro685Leu) rs199594245 0.00025
NM_001297.5(CNGB1):c.2370-19C>T rs758363643 0.00025
NM_001297.5(CNGB1):c.721G>A (p.Ala241Thr) rs145325764 0.00025
NM_001297.5(CNGB1):c.1373-16C>G rs375237309 0.00024
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) rs201302946 0.00024
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) rs78149232 0.00023
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=) rs572930933 0.00023
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001297.5(CNGB1):c.3331G>A (p.Ala1111Thr) rs199660047 0.00021
NM_001297.5(CNGB1):c.1109A>G (p.Glu370Gly) rs371497836 0.00019
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) rs377042647 0.00019
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His) rs199552115 0.00019
NM_001297.5(CNGB1):c.3692C>T (p.Pro1231Leu) rs369171197 0.00019
NM_001297.5(CNGB1):c.1464C>T (p.Thr488=) rs372219689 0.00017
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) rs201290058 0.00017
NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met) rs376128303 0.00017
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) rs370932519 0.00016
NM_001297.5(CNGB1):c.2794+14G>A rs184150317 0.00016
NM_001297.5(CNGB1):c.458+7C>T rs368819628 0.00016
NM_001297.5(CNGB1):c.1401G>A (p.Val467=) rs762031587 0.00015
NM_001297.5(CNGB1):c.160-12C>T rs374210189 0.00015
NM_001297.5(CNGB1):c.3415C>G (p.Leu1139Val) rs376171765 0.00015
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr) rs202174131 0.00014
NM_001297.5(CNGB1):c.2605G>A (p.Val869Ile) rs61735107 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001297.5(CNGB1):c.2976+8G>C rs374813501 0.00014
NM_001297.5(CNGB1):c.2893-4A>G rs200104597 0.00013
NM_001297.5(CNGB1):c.3128C>T (p.Thr1043Met) rs200202348 0.00013
NM_001297.5(CNGB1):c.3589C>T (p.Pro1197Ser) rs561289103 0.00013
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) rs552372867 0.00012
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser) rs373477921 0.00012
NM_001297.5(CNGB1):c.1011C>T (p.Asn337=) rs372808732 0.00011
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) rs200963831 0.00011
NM_001297.5(CNGB1):c.291-8C>T rs375078087 0.00011
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) rs751822516 0.00011
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) rs201553871 0.00010
NM_001297.5(CNGB1):c.1668G>A (p.Thr556=) rs200720590 0.00010
NM_001297.5(CNGB1):c.2134C>T (p.Arg712Cys) rs376051016 0.00010
NM_001297.5(CNGB1):c.2748C>T (p.Arg916=) rs553434558 0.00010
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001297.5(CNGB1):c.1035-8C>T rs369784327 0.00009
NM_001297.5(CNGB1):c.165C>T (p.Pro55=) rs773046751 0.00009
NM_001297.5(CNGB1):c.2055G>A (p.Pro685=) rs374574053 0.00009
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile) rs200323140 0.00009
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) rs368328328 0.00009
NM_001297.5(CNGB1):c.2749G>A (p.Val917Ile) rs200022855 0.00009
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_001297.5(CNGB1):c.3096-14C>T rs531122937 0.00009
NM_001297.5(CNGB1):c.3132C>T (p.Ala1044=) rs369503135 0.00009
NM_001297.5(CNGB1):c.3230G>A (p.Arg1077Gln) rs374172975 0.00009
NM_001297.5(CNGB1):c.3398G>A (p.Arg1133Gln) rs375348116 0.00009
NM_001297.5(CNGB1):c.2436A>G (p.Ala812=) rs372268628 0.00008
NM_001297.5(CNGB1):c.374C>T (p.Pro125Leu) rs202053550 0.00008
NM_001297.5(CNGB1):c.584-9G>A rs150499027 0.00008
NM_001297.5(CNGB1):c.1187G>A (p.Arg396Gln) rs370327030 0.00007
NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter) rs201286463 0.00007
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val) rs376374823 0.00007
NM_001297.5(CNGB1):c.138C>T (p.Ala46=) rs753557311 0.00007
NM_001297.5(CNGB1):c.1524G>A (p.Ser508=) rs754744074 0.00007
NM_001297.5(CNGB1):c.1786G>A (p.Glu596Lys) rs199804324 0.00007
NM_001297.5(CNGB1):c.1846G>A (p.Ala616Thr) rs779726773 0.00007
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) rs181974243 0.00007
NM_001297.5(CNGB1):c.209G>A (p.Ser70Asn) rs201990326 0.00007
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) rs763416913 0.00007
NM_001297.5(CNGB1):c.2936G>A (p.Arg979His) rs576948875 0.00007
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) rs199780945 0.00007
NM_001297.5(CNGB1):c.1209+18C>A rs370097431 0.00006
NM_001297.5(CNGB1):c.1276G>A (p.Glu426Lys) rs373888175 0.00006
NM_001297.5(CNGB1):c.1487C>A (p.Ala496Asp) rs759552359 0.00006
NM_001297.5(CNGB1):c.217+8C>T rs765712517 0.00006
NM_001297.5(CNGB1):c.2197C>T (p.Leu733=) rs370180993 0.00006
NM_001297.5(CNGB1):c.2218-8G>C rs768380522 0.00006
NM_001297.5(CNGB1):c.2634+6G>A rs374018113 0.00006
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) rs758922488 0.00006
NM_001297.5(CNGB1):c.2737G>A (p.Val913Met) rs570908288 0.00006
NM_001297.5(CNGB1):c.2794+13C>T rs781605816 0.00006
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) rs543509332 0.00006
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) rs121918532 0.00006
NM_001297.5(CNGB1):c.3422C>T (p.Ala1141Val) rs562161300 0.00006
NM_001297.5(CNGB1):c.365C>T (p.Thr122Met) rs371879981 0.00006
NM_001297.5(CNGB1):c.3728C>T (p.Pro1243Leu) rs372109962 0.00006
NM_001297.5(CNGB1):c.568G>A (p.Ala190Thr) rs758848800 0.00006
NM_001297.5(CNGB1):c.583+2T>C rs755036276 0.00006
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) rs763165985 0.00006
NM_001297.5(CNGB1):c.1189C>A (p.Pro397Thr) rs61742504 0.00005
NM_001297.5(CNGB1):c.1583T>C (p.Leu528Ser) rs376369441 0.00005
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) rs556362158 0.00005
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln) rs371998765 0.00005
NM_001297.5(CNGB1):c.1958-18C>T rs756676900 0.00005
NM_001297.5(CNGB1):c.1987G>A (p.Val663Met) rs771774133 0.00005
NM_001297.5(CNGB1):c.2166+13C>T rs773375439 0.00005
NM_001297.5(CNGB1):c.2277C>T (p.Pro759=) rs754026500 0.00005
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu) rs747258045 0.00005
NM_001297.5(CNGB1):c.256C>T (p.Arg86Trp) rs750609245 0.00005
NM_001297.5(CNGB1):c.2661C>T (p.Thr887=) rs1204094593 0.00005
NM_001297.5(CNGB1):c.3304C>T (p.Arg1102Trp) rs201231319 0.00005
NM_001297.5(CNGB1):c.3319A>G (p.Lys1107Glu) rs200181155 0.00005
NM_001297.5(CNGB1):c.3686C>T (p.Pro1229Leu) rs376833687 0.00005
NM_001297.5(CNGB1):c.3729G>A (p.Pro1243=) rs534779665 0.00005
NM_001297.5(CNGB1):c.396C>T (p.Gly132=) rs377556935 0.00005
NM_001297.5(CNGB1):c.412+12G>A rs573010503 0.00005
NM_001297.5(CNGB1):c.610G>A (p.Gly204Arg) rs201654405 0.00005
NM_001297.5(CNGB1):c.752A>T (p.Asp251Val) rs370285136 0.00005
NM_001297.5(CNGB1):c.838G>A (p.Glu280Lys) rs914509294 0.00005
NM_001297.5(CNGB1):c.846_854del (p.Asp282_Gly285delinsGlu) rs760369077 0.00005
NM_001297.5(CNGB1):c.8G>A (p.Gly3Asp) rs565729841 0.00005
NM_001297.5(CNGB1):c.1122-10C>T rs756469092 0.00004
NM_001297.5(CNGB1):c.122C>T (p.Pro41Leu) rs200086229 0.00004
NM_001297.5(CNGB1):c.1306G>A (p.Glu436Lys) rs549685470 0.00004
NM_001297.5(CNGB1):c.1353C>T (p.Ala451=) rs779439140 0.00004
NM_001297.5(CNGB1):c.1405G>T (p.Val469Leu) rs774061456 0.00004
NM_001297.5(CNGB1):c.1418A>T (p.Asp473Val) rs769808679 0.00004
NM_001297.5(CNGB1):c.1644-19T>C rs749556464 0.00004
NM_001297.5(CNGB1):c.1659G>A (p.Ala553=) rs368827832 0.00004
NM_001297.5(CNGB1):c.1770C>T (p.Asp590=) rs770735553 0.00004
NM_001297.5(CNGB1):c.1801+5G>A rs375550800 0.00004
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln) rs373159617 0.00004
NM_001297.5(CNGB1):c.2025C>T (p.Pro675=) rs746408610 0.00004
NM_001297.5(CNGB1):c.2166+6T>G rs771401261 0.00004
NM_001297.5(CNGB1):c.2206C>T (p.Arg736Cys) rs569502373 0.00004
NM_001297.5(CNGB1):c.2219T>C (p.Met740Thr) rs781541993 0.00004
NM_001297.5(CNGB1):c.2230A>G (p.Ser744Gly) rs779904580 0.00004
NM_001297.5(CNGB1):c.2238G>C (p.Leu746=) rs752032092 0.00004
NM_001297.5(CNGB1):c.2265C>T (p.Val755=) rs377213253 0.00004
NM_001297.5(CNGB1):c.2274C>A (p.Asn758Lys) rs373363325 0.00004
NM_001297.5(CNGB1):c.2492+18C>A rs778126589 0.00004
NM_001297.5(CNGB1):c.2539G>A (p.Gly847Arg) rs200953727 0.00004
NM_001297.5(CNGB1):c.2543G>A (p.Gly848Glu) rs758072259 0.00004
NM_001297.5(CNGB1):c.2778C>T (p.His926=) rs749321305 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001297.5(CNGB1):c.3229C>T (p.Arg1077Trp) rs201023939 0.00004
NM_001297.5(CNGB1):c.3308C>T (p.Ala1103Val) rs377240706 0.00004
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=) rs201319323 0.00004
NM_001297.5(CNGB1):c.3397C>T (p.Arg1133Trp) rs369943028 0.00004
NM_001297.5(CNGB1):c.3488G>A (p.Gly1163Glu) rs186853874 0.00004
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) rs543712958 0.00004
NM_001297.5(CNGB1):c.3687G>A (p.Pro1229=) rs373319029 0.00004
NM_001297.5(CNGB1):c.534+1G>A rs200862689 0.00004
NM_001297.5(CNGB1):c.535-19C>T rs554826002 0.00004
NM_001297.5(CNGB1):c.583+18C>T rs766481147 0.00004
NM_001297.5(CNGB1):c.583+19G>A rs376649332 0.00004
NM_001297.5(CNGB1):c.584-10C>T rs755551308 0.00004
NM_001297.5(CNGB1):c.584-19T>C rs748640095 0.00004
NM_001297.5(CNGB1):c.5T>G (p.Leu2Trp) rs781036792 0.00004
NM_001297.5(CNGB1):c.728C>A (p.Thr243Asn) rs556998723 0.00004
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) rs757827406 0.00004
NM_001297.5(CNGB1):c.1157G>T (p.Gly386Val) rs759200502 0.00003
NM_001297.5(CNGB1):c.1169G>A (p.Ser390Asn) rs748557193 0.00003
NM_001297.5(CNGB1):c.1208A>G (p.Gln403Arg) rs1478593744 0.00003
NM_001297.5(CNGB1):c.1210-2A>G rs373232101 0.00003
NM_001297.5(CNGB1):c.1210-8C>T rs200729794 0.00003
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=) rs755279299 0.00003
NM_001297.5(CNGB1):c.1642G>A (p.Asp548Asn) rs771283959 0.00003
NM_001297.5(CNGB1):c.1643+1G>C rs1356992077 0.00003
NM_001297.5(CNGB1):c.1771G>A (p.Val591Ile) rs746847813 0.00003
NM_001297.5(CNGB1):c.1802-14A>G rs751916833 0.00003
NM_001297.5(CNGB1):c.1802-3C>T rs1184796173 0.00003
NM_001297.5(CNGB1):c.1845C>T (p.Pro615=) rs200431101 0.00003
NM_001297.5(CNGB1):c.1867G>A (p.Glu623Lys) rs1217395353 0.00003
NM_001297.5(CNGB1):c.1882G>A (p.Asp628Asn) rs574295098 0.00003
NM_001297.5(CNGB1):c.1909C>T (p.Arg637Cys) rs368926128 0.00003
NM_001297.5(CNGB1):c.1949C>T (p.Pro650Leu) rs780961773 0.00003
NM_001297.5(CNGB1):c.1957+12G>A rs200007250 0.00003
NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu) rs370536830 0.00003
NM_001297.5(CNGB1):c.2266G>A (p.Gly756Ser) rs398123605 0.00003
NM_001297.5(CNGB1):c.2305-18G>A rs774401723 0.00003
NM_001297.5(CNGB1):c.2369+13C>G rs374798952 0.00003
NM_001297.5(CNGB1):c.2371G>T (p.Val791Phe) rs201075437 0.00003
NM_001297.5(CNGB1):c.2493-20C>T rs768301724 0.00003
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) rs761295014 0.00003
NM_001297.5(CNGB1):c.2536A>G (p.Ile846Val) rs111880869 0.00003
NM_001297.5(CNGB1):c.2542G>A (p.Gly848Arg) rs777230272 0.00003
NM_001297.5(CNGB1):c.2544G>A (p.Gly848=) rs780587754 0.00003
NM_001297.5(CNGB1):c.2555C>T (p.Pro852Leu) rs768202610 0.00003
NM_001297.5(CNGB1):c.25C>T (p.Leu9=) rs1458814515 0.00003
NM_001297.5(CNGB1):c.2634+7G>A rs751554370 0.00003
NM_001297.5(CNGB1):c.2660C>A (p.Thr887Asn) rs778983720 0.00003
NM_001297.5(CNGB1):c.2763C>T (p.Tyr921=) rs534055212 0.00003
NM_001297.5(CNGB1):c.2795A>G (p.Asp932Gly) rs1960393842 0.00003
NM_001297.5(CNGB1):c.2813T>C (p.Val938Ala) rs771295293 0.00003
NM_001297.5(CNGB1):c.2834G>A (p.Arg945Gln) rs368110743 0.00003
NM_001297.5(CNGB1):c.2868C>T (p.Ile956=) rs765832106 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001297.5(CNGB1):c.2893G>T (p.Gly965Cys) rs559591083 0.00003
NM_001297.5(CNGB1):c.2935C>T (p.Arg979Cys) rs532187086 0.00003
NM_001297.5(CNGB1):c.3062C>T (p.Thr1021Met) rs774186674 0.00003
NM_001297.5(CNGB1):c.3242+19G>A rs535148864 0.00003
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=) rs566102644 0.00003
NM_001297.5(CNGB1):c.3363C>T (p.Gly1121=) rs1382172841 0.00003
NM_001297.5(CNGB1):c.345G>A (p.Pro115=) rs563415835 0.00003
NM_001297.5(CNGB1):c.3463-17C>T rs190049030 0.00003
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=) rs776024444 0.00003
NM_001297.5(CNGB1):c.3506C>T (p.Ala1169Val) rs770227227 0.00003
NM_001297.5(CNGB1):c.3546C>A (p.Asp1182Glu) rs760331816 0.00003
NM_001297.5(CNGB1):c.3653C>A (p.Pro1218His) rs1427637362 0.00003
NM_001297.5(CNGB1):c.3704A>G (p.Glu1235Gly) rs751167784 0.00003
NM_001297.5(CNGB1):c.46C>G (p.Pro16Ala) rs767982458 0.00003
NM_001297.5(CNGB1):c.534+4A>G rs754645788 0.00003
NM_001297.5(CNGB1):c.561T>A (p.Ala187=) rs747372673 0.00003
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) rs201703193 0.00003
NM_001297.5(CNGB1):c.724C>G (p.Gln242Glu) rs1482451622 0.00003
NM_001297.5(CNGB1):c.762-4G>T rs555762663 0.00003
NM_001297.5(CNGB1):c.762G>T (p.Arg254Ser) rs1363530847 0.00003
NM_001297.5(CNGB1):c.1031C>T (p.Pro344Leu) rs139849141 0.00002
NM_001297.5(CNGB1):c.1045C>T (p.Arg349Trp) rs772092052 0.00002
NM_001297.5(CNGB1):c.1046G>A (p.Arg349Gln) rs200052038 0.00002
NM_001297.5(CNGB1):c.1121+15C>T rs181122498 0.00002
NM_001297.5(CNGB1):c.1180G>A (p.Gly394Arg) rs564874122 0.00002
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) rs769840807 0.00002
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu) rs539534716 0.00002
NM_001297.5(CNGB1):c.1581G>A (p.Ala527=) rs368368294 0.00002
NM_001297.5(CNGB1):c.160-11G>C rs371750276 0.00002
NM_001297.5(CNGB1):c.16C>T (p.Gln6Ter) rs1427995653 0.00002
NM_001297.5(CNGB1):c.1710G>T (p.Glu570Asp) rs1085307820 0.00002
NM_001297.5(CNGB1):c.1776C>T (p.Thr592=) rs777684696 0.00002
NM_001297.5(CNGB1):c.1838C>T (p.Thr613Ile) rs748020693 0.00002
NM_001297.5(CNGB1):c.1947C>T (p.Asp649=) rs200874869 0.00002
NM_001297.5(CNGB1):c.1956C>T (p.Thr652=) rs372804572 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_001297.5(CNGB1):c.2135G>A (p.Arg712His) rs749886760 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826 0.00002
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) rs764107600 0.00002
NM_001297.5(CNGB1):c.2223C>T (p.Asp741=) rs970213918 0.00002
NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr) rs974336687 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_001297.5(CNGB1):c.2370-18G>A rs770908387 0.00002
NM_001297.5(CNGB1):c.2538C>T (p.Ile846=) rs777592241 0.00002
NM_001297.5(CNGB1):c.2541G>A (p.Gly847=) rs746598185 0.00002
NM_001297.5(CNGB1):c.2600C>T (p.Thr867Met) rs759367882 0.00002
NM_001297.5(CNGB1):c.2634+12C>A rs765514157 0.00002
NM_001297.5(CNGB1):c.2665G>A (p.Gly889Arg) rs1330639102 0.00002
NM_001297.5(CNGB1):c.267C>T (p.Gly89=) rs113446473 0.00002
NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn) rs1012577997 0.00002
NM_001297.5(CNGB1):c.2746C>T (p.Arg916Cys) rs764194863 0.00002
NM_001297.5(CNGB1):c.2794+7T>C rs746057353 0.00002
NM_001297.5(CNGB1):c.285G>T (p.Met95Ile) rs376053977 0.00002
NM_001297.5(CNGB1):c.2880C>T (p.Val960=) rs373826585 0.00002
NM_001297.5(CNGB1):c.2897G>A (p.Cys966Tyr) rs376947710 0.00002
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) rs780651730 0.00002
NM_001297.5(CNGB1):c.3095+7C>T rs752889241 0.00002
NM_001297.5(CNGB1):c.3129G>A (p.Thr1043=) rs748180946 0.00002
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) rs368987059 0.00002
NM_001297.5(CNGB1):c.3384A>C (p.Lys1128Asn) rs981771347 0.00002
NM_001297.5(CNGB1):c.3404G>A (p.Arg1135Gln) rs766474948 0.00002
NM_001297.5(CNGB1):c.3437C>A (p.Ala1146Glu) rs1296087515 0.00002
NM_001297.5(CNGB1):c.3505G>A (p.Ala1169Thr) rs780554214 0.00002
NM_001297.5(CNGB1):c.3521C>T (p.Thr1174Met) rs758143647 0.00002
NM_001297.5(CNGB1):c.3543C>T (p.Thr1181=) rs375919369 0.00002
NM_001297.5(CNGB1):c.3573G>A (p.Glu1191=) rs1377898232 0.00002
NM_001297.5(CNGB1):c.3582G>A (p.Gly1194=) rs754864561 0.00002
NM_001297.5(CNGB1):c.3634G>A (p.Glu1212Lys) rs777055578 0.00002
NM_001297.5(CNGB1):c.3664T>A (p.Ser1222Thr) rs772230733 0.00002
NM_001297.5(CNGB1):c.3671G>T (p.Arg1224Met) rs1241254911 0.00002
NM_001297.5(CNGB1):c.3683G>T (p.Ser1228Ile) rs754667137 0.00002
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile) rs1230824209 0.00002
NM_001297.5(CNGB1):c.413-17A>G rs376253635 0.00002
NM_001297.5(CNGB1):c.416G>A (p.Cys139Tyr) rs751079854 0.00002
NM_001297.5(CNGB1):c.429C>T (p.Pro143=) rs1454628486 0.00002
NM_001297.5(CNGB1):c.524A>G (p.Lys175Arg) rs994395352 0.00002
NM_001297.5(CNGB1):c.819T>C (p.His273=) rs749951105 0.00002
NM_001297.5(CNGB1):c.90G>A (p.Glu30=) rs375219355 0.00002
NM_001297.5(CNGB1):c.1002A>G (p.Glu334=) rs765545643 0.00001
NM_001297.5(CNGB1):c.1030C>T (p.Pro344Ser) rs568206778 0.00001
NM_001297.5(CNGB1):c.1083G>A (p.Glu361=) rs200011515 0.00001
NM_001297.5(CNGB1):c.1101G>A (p.Glu367=) rs528199212 0.00001
NM_001297.5(CNGB1):c.1118C>T (p.Thr373Ile) rs1381290724 0.00001
NM_001297.5(CNGB1):c.1121+1G>A rs754146758 0.00001
NM_001297.5(CNGB1):c.1122-12C>T rs1444911901 0.00001
NM_001297.5(CNGB1):c.1122-20C>T rs1442136933 0.00001
NM_001297.5(CNGB1):c.1122-9G>A rs750225817 0.00001
NM_001297.5(CNGB1):c.1148C>T (p.Ser383Leu) rs1340092292 0.00001
NM_001297.5(CNGB1):c.1151A>G (p.Gln384Arg) rs1421545538 0.00001
NM_001297.5(CNGB1):c.1185C>T (p.Thr395=) rs543195555 0.00001
NM_001297.5(CNGB1):c.1186C>T (p.Arg396Trp) rs761209484 0.00001
NM_001297.5(CNGB1):c.118del (p.Glu40fs) rs1351453184 0.00001
NM_001297.5(CNGB1):c.1196G>A (p.Ser399Asn) rs1352093340 0.00001
NM_001297.5(CNGB1):c.119A>C (p.Glu40Ala) rs1006717861 0.00001
NM_001297.5(CNGB1):c.1210-9T>A rs757041543 0.00001
NM_001297.5(CNGB1):c.1256A>G (p.Glu419Gly) rs754491100 0.00001
NM_001297.5(CNGB1):c.1270G>A (p.Glu424Lys) rs2544655046 0.00001
NM_001297.5(CNGB1):c.1308G>A (p.Glu436=) rs1284029878 0.00001
NM_001297.5(CNGB1):c.1323G>A (p.Ala441=) rs1340175211 0.00001
NM_001297.5(CNGB1):c.1324G>A (p.Glu442Lys) rs1744654434 0.00001
NM_001297.5(CNGB1):c.1355A>G (p.Glu452Gly) rs755722603 0.00001
NM_001297.5(CNGB1):c.1363A>T (p.Ser455Cys) rs750127832 0.00001
NM_001297.5(CNGB1):c.1372+10G>A rs531364050 0.00001
NM_001297.5(CNGB1):c.1372+12G>T rs372132297 0.00001
NM_001297.5(CNGB1):c.1372+2T>C rs1961602836 0.00001
NM_001297.5(CNGB1):c.1373-15C>T rs1397928659 0.00001
NM_001297.5(CNGB1):c.1373-5C>T rs777877102 0.00001
NM_001297.5(CNGB1):c.1383G>A (p.Thr461=) rs773350723 0.00001
NM_001297.5(CNGB1):c.1387C>A (p.Gln463Lys) rs1036455191 0.00001
NM_001297.5(CNGB1):c.1393C>T (p.Pro465Ser) rs1238008286 0.00001
NM_001297.5(CNGB1):c.1402C>T (p.Gln468Ter) rs1961361358 0.00001
NM_001297.5(CNGB1):c.141G>C (p.Glu47Asp) rs201536289 0.00001
NM_001297.5(CNGB1):c.1431C>T (p.Cys477=) rs1468272829 0.00001
NM_001297.5(CNGB1):c.1458C>G (p.Pro486=) rs1471139877 0.00001
NM_001297.5(CNGB1):c.1465G>A (p.Val489Met) rs573860701 0.00001
NM_001297.5(CNGB1):c.150C>T (p.Ser50=) rs774668919 0.00001
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) rs1489659962 0.00001
NM_001297.5(CNGB1):c.1535+10T>C rs781197120 0.00001
NM_001297.5(CNGB1):c.1555G>A (p.Asp519Asn) rs570021916 0.00001
NM_001297.5(CNGB1):c.1563G>T (p.Glu521Asp) rs1366129155 0.00001
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr) rs764636892 0.00001
NM_001297.5(CNGB1):c.160-8C>A rs759635956 0.00001
NM_001297.5(CNGB1):c.160C>A (p.Pro54Thr) rs200557535 0.00001
NM_001297.5(CNGB1):c.1612T>G (p.Trp538Gly) rs766409469 0.00001
NM_001297.5(CNGB1):c.161C>G (p.Pro54Arg) rs1350927024 0.00001
NM_001297.5(CNGB1):c.1625C>T (p.Thr542Ile) rs199920293 0.00001
NM_001297.5(CNGB1):c.1632G>A (p.Pro544=) rs768335062 0.00001
NM_001297.5(CNGB1):c.1644-2A>G rs750222574 0.00001
NM_001297.5(CNGB1):c.1655G>A (p.Arg552His) rs540261785 0.00001
NM_001297.5(CNGB1):c.166G>A (p.Glu56Lys) rs772006490 0.00001
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) rs768874859 0.00001
NM_001297.5(CNGB1):c.1684G>A (p.Ala562Thr) rs571358157 0.00001
NM_001297.5(CNGB1):c.1693A>G (p.Asn565Asp) rs777737761 0.00001
NM_001297.5(CNGB1):c.1695C>T (p.Asn565=) rs757874189 0.00001
NM_001297.5(CNGB1):c.1700G>A (p.Arg567Gln) rs537922983 0.00001
NM_001297.5(CNGB1):c.1738G>A (p.Glu580Lys) rs369515579 0.00001
NM_001297.5(CNGB1):c.1760T>C (p.Ile587Thr) rs201702756 0.00001
NM_001297.5(CNGB1):c.1775C>T (p.Thr592Ile) rs1960998163 0.00001
NM_001297.5(CNGB1):c.1799C>T (p.Pro600Leu) rs747968794 0.00001
NM_001297.5(CNGB1):c.1820C>T (p.Pro607Leu) rs760888982 0.00001
NM_001297.5(CNGB1):c.1822G>A (p.Glu608Lys) rs772949180 0.00001
NM_001297.5(CNGB1):c.1862T>C (p.Val621Ala) rs758668477 0.00001
NM_001297.5(CNGB1):c.1863G>A (p.Val621=) rs753172645 0.00001
NM_001297.5(CNGB1):c.1910G>A (p.Arg637His) rs775102648 0.00001
NM_001297.5(CNGB1):c.1940G>A (p.Ser647Asn) rs955856871 0.00001
NM_001297.5(CNGB1):c.1941C>A (p.Ser647Arg) rs1187092335 0.00001
NM_001297.5(CNGB1):c.1957+6T>C rs1357196940 0.00001
NM_001297.5(CNGB1):c.1958-17G>A rs745894002 0.00001
NM_001297.5(CNGB1):c.1958-19C>T rs780530196 0.00001
NM_001297.5(CNGB1):c.1958-5C>T rs751832118 0.00001
NM_001297.5(CNGB1):c.1963A>G (p.Met655Val) rs775622559 0.00001
NM_001297.5(CNGB1):c.1965G>A (p.Met655Ile) rs1262215377 0.00001
NM_001297.5(CNGB1):c.1974A>G (p.Leu658=) rs371859814 0.00001
NM_001297.5(CNGB1):c.1978C>T (p.Leu660=) rs530492994 0.00001
NM_001297.5(CNGB1):c.199G>A (p.Ala67Thr) rs779465798 0.00001
NM_001297.5(CNGB1):c.2026G>A (p.Val676Met) rs1452697207 0.00001
NM_001297.5(CNGB1):c.2042C>G (p.Pro681Arg) rs758706365 0.00001
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=) rs767102177 0.00001
NM_001297.5(CNGB1):c.2094C>T (p.Cys698=) rs563059002 0.00001
NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn) rs778003375 0.00001
NM_001297.5(CNGB1):c.2121C>T (p.Thr707=) rs748402322 0.00001
NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter) rs754786301 0.00001
NM_001297.5(CNGB1):c.2130G>C (p.Gln710His) rs753640703 0.00001
NM_001297.5(CNGB1):c.2136C>G (p.Arg712=) rs1357921223 0.00001
NM_001297.5(CNGB1):c.2141A>G (p.Gln714Arg) rs199936918 0.00001
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) rs541698458 0.00001
NM_001297.5(CNGB1):c.2165T>C (p.Ile722Thr) rs759940951 0.00001
NM_001297.5(CNGB1):c.2167-12C>T rs772769638 0.00001
NM_001297.5(CNGB1):c.2168C>T (p.Thr723Met) rs768853177 0.00001
NM_001297.5(CNGB1):c.2169G>A (p.Thr723=) rs775308719 0.00001
NM_001297.5(CNGB1):c.217+9G>A rs748749893 0.00001
NM_001297.5(CNGB1):c.2173A>G (p.Lys725Glu) rs1220692474 0.00001
NM_001297.5(CNGB1):c.2181C>T (p.Asp727=) rs184804201 0.00001
NM_001297.5(CNGB1):c.2186G>A (p.Arg729Gln) rs781104590 0.00001
NM_001297.5(CNGB1):c.2189A>G (p.Asn730Ser) rs746465669 0.00001
NM_001297.5(CNGB1):c.2199G>C (p.Leu733=) rs764979394 0.00001
NM_001297.5(CNGB1):c.2217+12G>A rs777814810 0.00001
NM_001297.5(CNGB1):c.2217+20G>A rs1232689485 0.00001
NM_001297.5(CNGB1):c.2217+7G>T rs565658156 0.00001
NM_001297.5(CNGB1):c.2218-20G>T rs991894154 0.00001
NM_001297.5(CNGB1):c.224A>G (p.Lys75Arg) rs371360464 0.00001
NM_001297.5(CNGB1):c.2278C>T (p.Leu760Phe) rs572146377 0.00001
NM_001297.5(CNGB1):c.2280C>T (p.Leu760=) rs1294783042 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001297.5(CNGB1):c.2296T>C (p.Cys766Arg) rs773682702 0.00001
NM_001297.5(CNGB1):c.22G>A (p.Val8Met) rs757959565 0.00001
NM_001297.5(CNGB1):c.2304+6A>G rs201809716 0.00001
NM_001297.5(CNGB1):c.2305-2A>G rs1213265293 0.00001
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064 0.00001
NM_001297.5(CNGB1):c.2332C>T (p.Arg778Cys) rs974814398 0.00001
NM_001297.5(CNGB1):c.2360A>G (p.Tyr787Cys) rs370288562 0.00001
NM_001297.5(CNGB1):c.2361C>A (p.Tyr787Ter) rs367678786 0.00001
NM_001297.5(CNGB1):c.2362G>A (p.Val788Met) rs780134614 0.00001
NM_001297.5(CNGB1):c.2369+9C>A rs767675883 0.00001
NM_001297.5(CNGB1):c.2370-16T>A rs1388524901 0.00001
NM_001297.5(CNGB1):c.2439G>A (p.Ser813=) rs778192245 0.00001
NM_001297.5(CNGB1):c.2451C>A (p.Gly817=) rs1174140196 0.00001
NM_001297.5(CNGB1):c.2454C>T (p.Leu818=) rs528283367 0.00001
NM_001297.5(CNGB1):c.245C>T (p.Thr82Ile) rs766414440 0.00001
NM_001297.5(CNGB1):c.2470G>C (p.Val824Leu) rs747921487 0.00001
NM_001297.5(CNGB1):c.2493-11T>C rs199851973 0.00001
NM_001297.5(CNGB1):c.2503T>C (p.Cys835Arg) rs773377435 0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) rs1064794573 0.00001
NM_001297.5(CNGB1):c.2540G>A (p.Gly847Glu) rs1203085426 0.00001
NM_001297.5(CNGB1):c.2558A>G (p.Lys853Arg) rs376117554 0.00001
NM_001297.5(CNGB1):c.2571A>C (p.Glu857Asp) rs764159018 0.00001
NM_001297.5(CNGB1):c.2601G>A (p.Thr867=) rs371181221 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2604C>T (p.Gly868=) rs377024297 0.00001
NM_001297.5(CNGB1):c.2606T>C (p.Val869Ala) rs1960495041 0.00001
NM_001297.5(CNGB1):c.2627T>G (p.Ile876Ser) rs545540719 0.00001
NM_001297.5(CNGB1):c.2628C>T (p.Ile876=) rs1209021925 0.00001
NM_001297.5(CNGB1):c.2634+4T>C rs202096769 0.00001
NM_001297.5(CNGB1):c.2634+9G>A rs1376755798 0.00001
NM_001297.5(CNGB1):c.2635-4C>A rs1295073111 0.00001
NM_001297.5(CNGB1):c.2643T>C (p.Asp881=) rs768384789 0.00001
NM_001297.5(CNGB1):c.2655C>T (p.Ala885=) rs371854640 0.00001
NM_001297.5(CNGB1):c.2658C>T (p.Ala886=) rs748162177 0.00001
NM_001297.5(CNGB1):c.2680C>T (p.Arg894Cys) rs1307817307 0.00001
NM_001297.5(CNGB1):c.2710A>C (p.Met904Leu) rs193155551 0.00001
NM_001297.5(CNGB1):c.2721C>T (p.Tyr907=) rs749386059 0.00001
NM_001297.5(CNGB1):c.2738T>C (p.Val913Ala) rs751512020 0.00001
NM_001297.5(CNGB1):c.2759G>A (p.Trp920Ter) rs1304758484 0.00001
NM_001297.5(CNGB1):c.2760G>A (p.Trp920Ter) rs776312649 0.00001
NM_001297.5(CNGB1):c.2766G>A (p.Glu922=) rs1435534464 0.00001
NM_001297.5(CNGB1):c.2780C>T (p.Ser927Leu) rs1229568395 0.00001
NM_001297.5(CNGB1):c.2781G>A (p.Ser927=) rs780026351 0.00001
NM_001297.5(CNGB1):c.2794+16C>T rs373789950 0.00001
NM_001297.5(CNGB1):c.2839G>C (p.Asp947His) rs1273551753 0.00001
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) rs376791249 0.00001
NM_001297.5(CNGB1):c.284T>C (p.Met95Thr) rs745351142 0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334 0.00001
NM_001297.5(CNGB1):c.2892+9T>A rs754913975 0.00001
NM_001297.5(CNGB1):c.2893-11C>T rs1052223234 0.00001
NM_001297.5(CNGB1):c.290+2T>C rs1429797650 0.00001
NM_001297.5(CNGB1):c.2903G>A (p.Arg968Gln) rs1960384039 0.00001
NM_001297.5(CNGB1):c.291-14T>G rs761103847 0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) rs752967885 0.00001
NM_001297.5(CNGB1):c.2931G>C (p.Arg977Ser) rs755445621 0.00001
NM_001297.5(CNGB1):c.2964T>C (p.Tyr988=) rs762804346 0.00001
NM_001297.5(CNGB1):c.2966T>A (p.Val989Glu) rs576228876 0.00001
NM_001297.5(CNGB1):c.2976+15C>A rs536264127 0.00001
NM_001297.5(CNGB1):c.2977-1G>A rs865818297 0.00001
NM_001297.5(CNGB1):c.2979G>A (p.Gly993=) rs749626938 0.00001
NM_001297.5(CNGB1):c.2983A>T (p.Ile995Phe) rs780587560 0.00001
NM_001297.5(CNGB1):c.3008A>G (p.Gln1003Arg) rs758652454 0.00001
NM_001297.5(CNGB1):c.3019G>C (p.Val1007Leu) rs765061130 0.00001
NM_001297.5(CNGB1):c.3033C>T (p.Gly1011=) rs772877765 0.00001
NM_001297.5(CNGB1):c.3077C>A (p.Ser1026Tyr) rs781682721 0.00001
NM_001297.5(CNGB1):c.3079G>A (p.Val1027Met) rs747053697 0.00001
NM_001297.5(CNGB1):c.3098T>G (p.Leu1033Trp) rs779688908 0.00001
NM_001297.5(CNGB1):c.3101T>C (p.Leu1034Pro) rs1324144173 0.00001
NM_001297.5(CNGB1):c.3103G>C (p.Ala1035Pro) rs1960267126 0.00001
NM_001297.5(CNGB1):c.3121C>T (p.Arg1041Trp) rs775265608 0.00001
NM_001297.5(CNGB1):c.3124C>T (p.Arg1042Cys) rs1241546157 0.00001
NM_001297.5(CNGB1):c.3125G>T (p.Arg1042Leu) rs773698242 0.00001
NM_001297.5(CNGB1):c.3143C>T (p.Ala1048Val) rs755959274 0.00001
NM_001297.5(CNGB1):c.3145C>T (p.His1049Tyr) rs1960264486 0.00001
NM_001297.5(CNGB1):c.3160C>T (p.Leu1054Phe) rs1418906616 0.00001
NM_001297.5(CNGB1):c.3180G>A (p.Lys1060=) rs367764281 0.00001
NM_001297.5(CNGB1):c.3242+18C>T rs1049954541 0.00001
NM_001297.5(CNGB1):c.3242+9C>A rs371348182 0.00001
NM_001297.5(CNGB1):c.3255A>T (p.Arg1085Ser) rs772055206 0.00001
NM_001297.5(CNGB1):c.328G>A (p.Val110Ile) rs765835118 0.00001
NM_001297.5(CNGB1):c.3293T>C (p.Ile1098Thr) rs1432448949 0.00001
NM_001297.5(CNGB1):c.3339C>T (p.Leu1113=) rs748808412 0.00001
NM_001297.5(CNGB1):c.3403C>T (p.Arg1135Trp) rs753974570 0.00001
NM_001297.5(CNGB1):c.3416T>C (p.Leu1139Pro) rs761651354 0.00001
NM_001297.5(CNGB1):c.3419C>T (p.Ala1140Val) rs774214610 0.00001
NM_001297.5(CNGB1):c.3423G>A (p.Ala1141=) rs745504458 0.00001
NM_001297.5(CNGB1):c.3431C>T (p.Ala1144Val) rs370962776 0.00001
NM_001297.5(CNGB1):c.3432G>A (p.Ala1144=) rs755577473 0.00001
NM_001297.5(CNGB1):c.344C>T (p.Pro115Leu) rs1464890085 0.00001
NM_001297.5(CNGB1):c.3463-16C>T rs1181884132 0.00001
NM_001297.5(CNGB1):c.3463-8G>T rs763846389 0.00001
NM_001297.5(CNGB1):c.346C>T (p.Gln116Ter) rs367677784 0.00001
NM_001297.5(CNGB1):c.3493G>A (p.Glu1165Lys) rs200169932 0.00001
NM_001297.5(CNGB1):c.3542C>T (p.Thr1181Ile) rs1362191567 0.00001
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg) rs375397174 0.00001
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln) rs749978261 0.00001
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp) rs886052191 0.00001
NM_001297.5(CNGB1):c.3648C>G (p.Ala1216=) rs1176300897 0.00001
NM_001297.5(CNGB1):c.3654C>G (p.Pro1218=) rs771439069 0.00001
NM_001297.5(CNGB1):c.3662A>G (p.His1221Arg) rs1237045478 0.00001
NM_001297.5(CNGB1):c.3693G>A (p.Pro1231=) rs756850659 0.00001
NM_001297.5(CNGB1):c.3712C>G (p.Leu1238Val) rs1239122375 0.00001
NM_001297.5(CNGB1):c.3750G>A (p.Ala1250=) rs553830954 0.00001
NM_001297.5(CNGB1):c.3751G>C (p.Glu1251Gln) rs768947322 0.00001
NM_001297.5(CNGB1):c.381+11G>A rs1962297747 0.00001
NM_001297.5(CNGB1):c.382-15G>A rs747578508 0.00001
NM_001297.5(CNGB1):c.411A>G (p.Thr137=) rs749051441 0.00001
NM_001297.5(CNGB1):c.412+17G>A rs374522750 0.00001
NM_001297.5(CNGB1):c.412+18G>T rs1197080417 0.00001
NM_001297.5(CNGB1):c.458+11A>G rs768732225 0.00001
NM_001297.5(CNGB1):c.458+1G>A rs1445887025 0.00001
NM_001297.5(CNGB1):c.483G>A (p.Trp161Ter) rs776433637 0.00001
NM_001297.5(CNGB1):c.505G>A (p.Val169Met) rs772186517 0.00001
NM_001297.5(CNGB1):c.515A>G (p.Gln172Arg) rs1205356751 0.00001
NM_001297.5(CNGB1):c.535-18G>A rs200699915 0.00001
NM_001297.5(CNGB1):c.551C>T (p.Pro184Leu) rs763256549 0.00001
NM_001297.5(CNGB1):c.584C>T (p.Ala195Val) rs780237166 0.00001
NM_001297.5(CNGB1):c.585G>A (p.Ala195=) rs530319460 0.00001
NM_001297.5(CNGB1):c.596G>A (p.Arg199His) rs761720019 0.00001
NM_001297.5(CNGB1):c.60G>C (p.Lys20Asn) rs749405869 0.00001
NM_001297.5(CNGB1):c.628C>T (p.Arg210Trp) rs769302175 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001297.5(CNGB1):c.709C>A (p.Pro237Thr) rs752714921 0.00001
NM_001297.5(CNGB1):c.711C>T (p.Pro237=) rs764682451 0.00001
NM_001297.5(CNGB1):c.732C>T (p.Ser244=) rs1043559465 0.00001
NM_001297.5(CNGB1):c.734C>T (p.Ser245Phe) rs754864375 0.00001
NM_001297.5(CNGB1):c.753C>T (p.Asp251=) rs1447319158 0.00001
NM_001297.5(CNGB1):c.762-15C>G rs764316598 0.00001
NM_001297.5(CNGB1):c.763C>T (p.Leu255=) rs1327600583 0.00001
NM_001297.5(CNGB1):c.781C>A (p.His261Asn) rs1468672836 0.00001
NM_001297.5(CNGB1):c.783C>T (p.His261=) rs747151123 0.00001
NM_001297.5(CNGB1):c.787C>T (p.Leu263=) rs1962148035 0.00001
NM_001297.5(CNGB1):c.797C>T (p.Ala266Val) rs747935592 0.00001
NM_001297.5(CNGB1):c.804G>A (p.Pro268=) rs374802929 0.00001
NM_001297.5(CNGB1):c.805C>T (p.Gln269Ter) rs753776329 0.00001
NM_001297.5(CNGB1):c.837+10G>A rs761624038 0.00001
NM_001297.5(CNGB1):c.844G>C (p.Asp282His) rs780015277 0.00001
NM_001297.5(CNGB1):c.855G>A (p.Gly285=) rs372101208 0.00001
NM_001297.5(CNGB1):c.858A>G (p.Ile286Met) rs1319171358 0.00001
NM_001297.5(CNGB1):c.865G>A (p.Val289Met) rs1453280409 0.00001
NM_001297.5(CNGB1):c.871A>C (p.Thr291Pro) rs1962115240 0.00001
NM_001297.5(CNGB1):c.873C>A (p.Thr291=) rs181481207 0.00001
NM_001297.5(CNGB1):c.875-16C>T rs558463820 0.00001
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) rs372504780 0.00001
NM_001297.5(CNGB1):c.97A>G (p.Met33Val) rs757082296 0.00001
NM_001297.5(CNGB1):c.980C>G (p.Thr327Arg) rs910637111 0.00001
GRCh37/hg19 16q21(chr16:57935248-57958159)x1
NC_000016.10:g.(?_57903822)_(57911875_?)del
NC_000016.10:g.(?_57917268)_(57917476_?)del
NC_000016.10:g.(?_57949353)_(57950540_?)dup
NC_000016.9:g.(?_57931281)_(57946918_?)dup
NC_000016.9:g.(?_57935236)_(57957304_?)del
NC_000016.9:g.(?_57937706)_(57937905_?)dup
NC_000016.9:g.(?_57937706)_(57938799_?)del
NC_000016.9:g.(?_57937706)_(57945799_?)del
NC_000016.9:g.(?_57938618)_(57957304_?)dup
NC_000016.9:g.(?_57951152)_(57951400_?)del
NC_000016.9:g.(?_57965600)_(58001190_?)dup
NC_000016.9:g.(?_57984349)_(57989077_?)del
NM_001297.5(CNGB1):c.1003G>A (p.Glu335Lys) rs2149381761
NM_001297.5(CNGB1):c.1006G>A (p.Glu336Lys) rs2149381760
NM_001297.5(CNGB1):c.1011_1013del (p.Asn337del) rs2149381752
NM_001297.5(CNGB1):c.1019T>A (p.Val340Glu) rs2149381750
NM_001297.5(CNGB1):c.1020G>A (p.Val340=) rs2149381747
NM_001297.5(CNGB1):c.1028T>A (p.Met343Lys) rs202174131
NM_001297.5(CNGB1):c.1032C>T (p.Pro344=) rs1288321792
NM_001297.5(CNGB1):c.1034+16A>G rs1961916903
NM_001297.5(CNGB1):c.1035-12A>G rs2149381366
NM_001297.5(CNGB1):c.1035-15C>G rs2544664379
NM_001297.5(CNGB1):c.1052A>C (p.Glu351Ala) rs2149381342
NM_001297.5(CNGB1):c.1080AGAGGA[1] (p.Glu370_Glu371del) rs750979647
NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del) rs141566950
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001297.5(CNGB1):c.1089GGA[7] (p.Glu371_Val372insGluGlu) rs141566950
NM_001297.5(CNGB1):c.1097_1114del (p.Glu366_Glu371del) rs750570422
NM_001297.5(CNGB1):c.1098G>A (p.Glu366=) rs1470572462
NM_001297.5(CNGB1):c.1105G>C (p.Glu369Gln) rs2149381293
NM_001297.5(CNGB1):c.1120_1121+2del rs778884136
NM_001297.5(CNGB1):c.1121+18C>T rs2149381272
NM_001297.5(CNGB1):c.1122-36_1122-19del rs2149376643
NM_001297.5(CNGB1):c.1122-7G>A rs2149376622
NM_001297.5(CNGB1):c.1125_1126delinsAA (p.Leu376Met) rs2149376612
NM_001297.5(CNGB1):c.112G>C (p.Glu38Gln) rs2149390170
NM_001297.5(CNGB1):c.112G>T (p.Glu38Ter) rs2149390170
NM_001297.5(CNGB1):c.1149G>A (p.Ser383=) rs775050027
NM_001297.5(CNGB1):c.1152G>T (p.Gln384His)
NM_001297.5(CNGB1):c.1154T>C (p.Val385Ala) rs1406457114
NM_001297.5(CNGB1):c.1155G>A (p.Val385=) rs886165135
NM_001297.5(CNGB1):c.1164C>T (p.Gly388=)
NM_001297.5(CNGB1):c.117A>G (p.Pro39=) rs1393132132
NM_001297.5(CNGB1):c.1186del (p.Arg396fs)
NM_001297.5(CNGB1):c.1209+10G>A rs1961629448
NM_001297.5(CNGB1):c.1209+17G>C rs372846873
NM_001297.5(CNGB1):c.1209+17del
NM_001297.5(CNGB1):c.1209+18C>T rs370097431
NM_001297.5(CNGB1):c.1209G>T (p.Gln403His) rs1264720085
NM_001297.5(CNGB1):c.1224_1235del (p.Val409_Glu412del) rs2149376118
NM_001297.5(CNGB1):c.1236G>C (p.Glu412Asp) rs2149376115
NM_001297.5(CNGB1):c.1269G>A (p.Glu423=) rs1466108668
NM_001297.5(CNGB1):c.1272G>T (p.Glu424Asp) rs2544655042
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1275C>T (p.Ala425=) rs376016716
NM_001297.5(CNGB1):c.1276del (p.Glu426fs) rs2544655027
NM_001297.5(CNGB1):c.1278G>A (p.Glu426=) rs1352097038
NM_001297.5(CNGB1):c.1329C>A (p.Thr443=) rs2544654905
NM_001297.5(CNGB1):c.1329C>T (p.Thr443=) rs2544654905
NM_001297.5(CNGB1):c.1330A>G (p.Lys444Glu) rs1961604811
NM_001297.5(CNGB1):c.1330A>T (p.Lys444Ter) rs1961604811
NM_001297.5(CNGB1):c.1331A>G (p.Lys444Arg) rs2544654898
NM_001297.5(CNGB1):c.1333del (p.Glu445fs) rs759380292
NM_001297.5(CNGB1):c.1354G>A (p.Glu452Lys) rs1961603783
NM_001297.5(CNGB1):c.135G>A (p.Glu45=) rs2544685513
NM_001297.5(CNGB1):c.1372+18G>A
NM_001297.5(CNGB1):c.1372+7GTG[4] rs751490125
NM_001297.5(CNGB1):c.1373-3C>A rs564200357
NM_001297.5(CNGB1):c.1415C>T (p.Thr472Ile) rs1961360646
NM_001297.5(CNGB1):c.1428C>T (p.Ser476=)
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) rs1468272829
NM_001297.5(CNGB1):c.1434C>T (p.Pro478=)
NM_001297.5(CNGB1):c.1436T>C (p.Leu479Pro) rs2544647445
NM_001297.5(CNGB1):c.1437C>T (p.Leu479=)
NM_001297.5(CNGB1):c.1438A>C (p.Met480Leu) rs541893675
NM_001297.5(CNGB1):c.1438A>G (p.Met480Val) rs541893675
NM_001297.5(CNGB1):c.1495G>C (p.Asp499His) rs1961355142
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=) rs75406397
NM_001297.5(CNGB1):c.1507G>C (p.Val503Leu) rs2149372017
NM_001297.5(CNGB1):c.150C>G (p.Ser50=) rs774668919
NM_001297.5(CNGB1):c.1517C>G (p.Ser506Ter) rs1961354332
NM_001297.5(CNGB1):c.1526G>T (p.Gly509Val) rs756544054
NM_001297.5(CNGB1):c.1532_1535+6del rs1961353527
NM_001297.5(CNGB1):c.1535+1G>T
NM_001297.5(CNGB1):c.1535+9T>C rs2149371998
NM_001297.5(CNGB1):c.1536-10G>A rs1220580024
NM_001297.5(CNGB1):c.1536-12G>C
NM_001297.5(CNGB1):c.1536-41_1552del
NM_001297.5(CNGB1):c.1554G>C (p.Glu518Asp) rs1961100684
NM_001297.5(CNGB1):c.1581G>T (p.Ala527=)
NM_001297.5(CNGB1):c.159+14C>A rs199591689
NM_001297.5(CNGB1):c.159+19G>A rs2149390113
NM_001297.5(CNGB1):c.159+6A>C rs1962419015
NM_001297.5(CNGB1):c.159+9T>A rs949153518
NM_001297.5(CNGB1):c.1599C>T (p.Ser533=)
NM_001297.5(CNGB1):c.160-12C>A rs374210189
NM_001297.5(CNGB1):c.1604_1605inv (p.Val535Ala)
NM_001297.5(CNGB1):c.1620C>T (p.Asp540=)
NM_001297.5(CNGB1):c.1633A>G (p.Lys545Glu) rs777037205
NM_001297.5(CNGB1):c.1638C>T (p.Asp546=)
NM_001297.5(CNGB1):c.163C>G (p.Pro55Ala) rs1198914984
NM_001297.5(CNGB1):c.1643+10C>G rs758483672
NM_001297.5(CNGB1):c.1643+10C>T rs758483672
NM_001297.5(CNGB1):c.1643+18T>C rs748218212
NM_001297.5(CNGB1):c.1643+39C>G rs247065
NM_001297.5(CNGB1):c.1643+8C>T rs1435310484
NM_001297.5(CNGB1):c.1644-15G>T rs1480402895
NM_001297.5(CNGB1):c.1644-18T>C rs975640504
NM_001297.5(CNGB1):c.1644-3C>G rs1262911926
NM_001297.5(CNGB1):c.1644-3C>T
NM_001297.5(CNGB1):c.1644-4A>C rs2544636751
NM_001297.5(CNGB1):c.1651G>C (p.Asp551His) rs2149366569
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) rs374424738
NM_001297.5(CNGB1):c.1658C>T (p.Ala553Val) rs374424738
NM_001297.5(CNGB1):c.165dup (p.Glu56fs) rs772049858
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys) rs199836349
NM_001297.5(CNGB1):c.1667C>T (p.Thr556Met) rs199836349
NM_001297.5(CNGB1):c.1672A>C (p.Ser558Arg) rs774536610
NM_001297.5(CNGB1):c.1678A>C (p.Asn560His) rs1567378197
NM_001297.5(CNGB1):c.1679A>G (p.Asn560Ser) rs772061459
NM_001297.5(CNGB1):c.1683C>A (p.Ser561Arg) rs202034315
NM_001297.5(CNGB1):c.1683C>T (p.Ser561=)
NM_001297.5(CNGB1):c.1684del (p.Ala562fs) rs2149366536
NM_001297.5(CNGB1):c.169G>A (p.Glu57Lys) rs1173171736
NM_001297.5(CNGB1):c.169G>T (p.Glu57Ter) rs1173171736
NM_001297.5(CNGB1):c.1704C>T (p.Leu568=) rs2149366520
NM_001297.5(CNGB1):c.1705C>T (p.Gln569Ter) rs1463251101
NM_001297.5(CNGB1):c.1707G>C (p.Gln569His) rs1961000455
NM_001297.5(CNGB1):c.1714G>T (p.Val572Leu) rs2544636584
NM_001297.5(CNGB1):c.1720C>T (p.Leu574Phe) rs940484020
NM_001297.5(CNGB1):c.1730_1731insC (p.Glu577fs) rs2544636557
NM_001297.5(CNGB1):c.1732C>T (p.Arg578Trp) rs375213691
NM_001297.5(CNGB1):c.1747A>T (p.Lys583Ter) rs2149366496
NM_001297.5(CNGB1):c.1759A>G (p.Ile587Val)
NM_001297.5(CNGB1):c.176del (p.Phe59fs) rs2544683005
NM_001297.5(CNGB1):c.1770C>A (p.Asp590Glu) rs770735553
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu) rs770735553
NM_001297.5(CNGB1):c.1778C>G (p.Ser593Cys) rs2149366477
NM_001297.5(CNGB1):c.177C>G (p.Phe59Leu) rs1962342389
NM_001297.5(CNGB1):c.1782T>C (p.Asp594=) rs1423138817
NM_001297.5(CNGB1):c.1799C>G (p.Pro600Arg) rs747968794
NM_001297.5(CNGB1):c.1801+11A>G rs2544636450
NM_001297.5(CNGB1):c.1801+13C>G rs2544636441
NM_001297.5(CNGB1):c.1821A>C (p.Pro607=) rs2544635258
NM_001297.5(CNGB1):c.1824G>A (p.Glu608=) rs2544635251
NM_001297.5(CNGB1):c.1826C>A (p.Pro609Gln) rs1960962081
NM_001297.5(CNGB1):c.1855G>C (p.Glu619Gln) rs778235190
NM_001297.5(CNGB1):c.185A>G (p.Glu62Gly) rs1962341944
NM_001297.5(CNGB1):c.1875C>G (p.His625Gln) rs1287450394
NM_001297.5(CNGB1):c.1875C>T (p.His625=) rs1287450394
NM_001297.5(CNGB1):c.1881C>T (p.Cys627=) rs369525244
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.1898del (p.Lys633fs)
NM_001297.5(CNGB1):c.1907A>G (p.His636Arg) rs1960958935
NM_001297.5(CNGB1):c.1908C>T (p.His636=) rs2544635116
NM_001297.5(CNGB1):c.1927C>T (p.Gln643Ter) rs2544635088
NM_001297.5(CNGB1):c.1928A>G (p.Gln643Arg) rs2544635085
NM_001297.5(CNGB1):c.1932T>G (p.Phe644Leu) rs2149365829
NM_001297.5(CNGB1):c.1950G>A (p.Pro650=) rs35424571
NM_001297.5(CNGB1):c.1950G>T (p.Pro650=) rs35424571
NM_001297.5(CNGB1):c.1951dup (p.Leu651fs) rs2149365820
NM_001297.5(CNGB1):c.1955C>G (p.Thr652Ser) rs1085307840
NM_001297.5(CNGB1):c.1957+11G>A rs190910346
NM_001297.5(CNGB1):c.1957+11G>C
NM_001297.5(CNGB1):c.1957+2T>G rs755398007
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.1966_1967delinsCT (p.Tyr656Leu) rs2149364897
NM_001297.5(CNGB1):c.1977G>A (p.Trp659Ter) rs2544633550
NM_001297.5(CNGB1):c.198G>A (p.Val66=)
NM_001297.5(CNGB1):c.2000G>A (p.Trp667Ter) rs2149364869
NM_001297.5(CNGB1):c.2026G>C (p.Val676Leu) rs1452697207
NM_001297.5(CNGB1):c.2030G>A (p.Arg677His) rs375519490
NM_001297.5(CNGB1):c.2030G>C (p.Arg677Pro)
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) rs375519490
NM_001297.5(CNGB1):c.2037C>A (p.Ala679=) rs1485276230
NM_001297.5(CNGB1):c.2043C>T (p.Pro681=)
NM_001297.5(CNGB1):c.2045A>G (p.Tyr682Cys) rs2544633417
NM_001297.5(CNGB1):c.2053C>G (p.Pro685Ala) rs1308922108
NM_001297.5(CNGB1):c.2057A>G (p.Asp686Gly) rs1960898681
NM_001297.5(CNGB1):c.2061C>T (p.Asn687=) rs2149364832
NM_001297.5(CNGB1):c.2076G>T (p.Leu692=) rs2149364820
NM_001297.5(CNGB1):c.2083G>A (p.Asp695Asn) rs1262854071
NM_001297.5(CNGB1):c.2086dup (p.Tyr696fs) rs2149364812
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn) rs746268207
NM_001297.5(CNGB1):c.2095G>C (p.Asp699His) rs746268207
NM_001297.5(CNGB1):c.210C>T (p.Ser70=) rs2544682941
NM_001297.5(CNGB1):c.2115C>T (p.Asp705=) rs1187674279
NM_001297.5(CNGB1):c.2118C>T (p.Ile706=) rs2544633285
NM_001297.5(CNGB1):c.2122G>A (p.Val708Met) rs1960896249
NM_001297.5(CNGB1):c.2124G>T (p.Val708=) rs2149364776
NM_001297.5(CNGB1):c.2137C>T (p.Leu713=)
NM_001297.5(CNGB1):c.2148C>T (p.Val716=) rs2544633223
NM_001297.5(CNGB1):c.2157G>A (p.Gly719=)
NM_001297.5(CNGB1):c.2160C>T (p.Asp720=) rs1370540791
NM_001297.5(CNGB1):c.2166+5G>A rs1394488061
NM_001297.5(CNGB1):c.2166+7C>T rs2149364734
NM_001297.5(CNGB1):c.2167-16A>T rs1960864970
NM_001297.5(CNGB1):c.2167-7C>G rs2149364185
NM_001297.5(CNGB1):c.217+20C>A rs753948720
NM_001297.5(CNGB1):c.217+8C>A rs765712517
NM_001297.5(CNGB1):c.218-14A>G rs2149388618
NM_001297.5(CNGB1):c.218-17G>A
NM_001297.5(CNGB1):c.2185C>A (p.Arg729=) rs1352458826
NM_001297.5(CNGB1):c.2197C>G (p.Leu733Val) rs370180993
NM_001297.5(CNGB1):c.2205_2206del (p.Arg736fs) rs2149364141
NM_001297.5(CNGB1):c.2217+10G>A rs376776815
NM_001297.5(CNGB1):c.2217+10G>T rs376776815
NM_001297.5(CNGB1):c.2217+17C>T rs757814029
NM_001297.5(CNGB1):c.2217+18A>G rs2149364107
NM_001297.5(CNGB1):c.2217+19A>G rs2544631849
NM_001297.5(CNGB1):c.2217+1G>T rs2149364126
NM_001297.5(CNGB1):c.2217+2T>C rs1960862003
NM_001297.5(CNGB1):c.2217+4T>C rs2544631881
NM_001297.5(CNGB1):c.2217+9C>T rs368099688
NM_001297.5(CNGB1):c.2225del (p.Leu742fs) rs2544630794
NM_001297.5(CNGB1):c.2252T>C (p.Leu751Pro) rs1960834859
NM_001297.5(CNGB1):c.2266G>C (p.Gly756Arg) rs398123605
NM_001297.5(CNGB1):c.2285G>T (p.Arg762Leu) rs760373259
NM_001297.5(CNGB1):c.2300T>C (p.Leu767Ser) rs1960832667
NM_001297.5(CNGB1):c.2302A>C (p.Lys768Gln) rs1960832607
NM_001297.5(CNGB1):c.2304+13G>A rs2544630609
NM_001297.5(CNGB1):c.2304+17C>G rs1369314934
NM_001297.5(CNGB1):c.2305-18G>C rs774401723
NM_001297.5(CNGB1):c.2305-4C>G rs764198766
NM_001297.5(CNGB1):c.2308A>C (p.Met770Leu) rs199571662
NM_001297.5(CNGB1):c.2314T>A (p.Phe772Ile) rs2544628877
NM_001297.5(CNGB1):c.2317T>C (p.Phe773Leu) rs2149362738
NM_001297.5(CNGB1):c.2333G>A (p.Arg778His) rs374491029
NM_001297.5(CNGB1):c.2333G>T (p.Arg778Leu) rs374491029
NM_001297.5(CNGB1):c.2353A>T (p.Lys785Ter) rs2544628814
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=) rs367678786
NM_001297.5(CNGB1):c.2369+10C>A rs1960769628
NM_001297.5(CNGB1):c.2369+10C>G rs1960769628
NM_001297.5(CNGB1):c.2369+11C>T rs2149362682
NM_001297.5(CNGB1):c.2369+12C>T rs757932867
NM_001297.5(CNGB1):c.2369+13del rs1960769381
NM_001297.5(CNGB1):c.2369+1G>A rs756239195
NM_001297.5(CNGB1):c.2370-12T>C rs2149362111
NM_001297.5(CNGB1):c.2370-20G>T rs2544627401
NM_001297.5(CNGB1):c.2370-87_2372del rs2544627335
NM_001297.5(CNGB1):c.2373C>A (p.Val791=) rs377762874
NM_001297.5(CNGB1):c.2373C>T (p.Val791=) rs377762874
NM_001297.5(CNGB1):c.2427T>C (p.Tyr809=)
NM_001297.5(CNGB1):c.242C>G (p.Ser81Cys) rs1962331329
NM_001297.5(CNGB1):c.2449G>A (p.Gly817Ser) rs1960722338
NM_001297.5(CNGB1):c.246C>G (p.Thr82=) rs1249776752
NM_001297.5(CNGB1):c.2492+19C>T rs184343851
NM_001297.5(CNGB1):c.2492+1G>A rs530551814
NM_001297.5(CNGB1):c.2492+2T>G rs2149362043
NM_001297.5(CNGB1):c.2493-11TC[5] rs1567370344
NM_001297.5(CNGB1):c.2493-13C>G
NM_001297.5(CNGB1):c.2493-19C>G
NM_001297.5(CNGB1):c.2493-7T>C rs1960502139
NM_001297.5(CNGB1):c.2501G>A (p.Arg834His) rs761295014
NM_001297.5(CNGB1):c.2504G>A (p.Cys835Tyr) rs1298762004
NM_001297.5(CNGB1):c.2520G>A (p.Val840=) rs371081260
NM_001297.5(CNGB1):c.2527C>T (p.Leu843Phe) rs769683445
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs) rs1451575280
NM_001297.5(CNGB1):c.2528dup (p.Ile844fs) rs1567370223
NM_001297.5(CNGB1):c.252C>T (p.Ser84=) rs1962330832
NM_001297.5(CNGB1):c.2531T>A (p.Ile844Asn) rs1960499131
NM_001297.5(CNGB1):c.2532C>T (p.Ile844=) rs2544620454
NM_001297.5(CNGB1):c.2533A>G (p.Thr845Ala) rs907470991
NM_001297.5(CNGB1):c.2544G>T (p.Gly848=) rs780587754
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2545C>T (p.Leu849=)
NM_001297.5(CNGB1):c.254T>G (p.Leu85Arg) rs1290411898
NM_001297.5(CNGB1):c.2550T>C (p.Pro850=)
NM_001297.5(CNGB1):c.2556C>A (p.Pro852=) rs761783040
NM_001297.5(CNGB1):c.2556dup (p.Lys853fs) rs797044693
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2597T>C (p.Phe866Ser) rs2544620293
NM_001297.5(CNGB1):c.2619T>C (p.Ser873=) rs1960494884
NM_001297.5(CNGB1):c.2634+5C>T rs372812881
NM_001297.5(CNGB1):c.2634+6G>C rs374018113
NM_001297.5(CNGB1):c.2634+8G>A rs369567117
NM_001297.5(CNGB1):c.2635-10del rs777949032
NM_001297.5(CNGB1):c.2635-11C>T rs1248133549
NM_001297.5(CNGB1):c.2635-12C>A rs760422461
NM_001297.5(CNGB1):c.2635-15T>C rs2544619137
NM_001297.5(CNGB1):c.2635-2A>T rs2149358592
NM_001297.5(CNGB1):c.2635-7C>T rs1222206370
NM_001297.5(CNGB1):c.2635-8del rs1478165117
NM_001297.5(CNGB1):c.2641G>A (p.Asp881Asn) rs1390089871
NM_001297.5(CNGB1):c.2651_2658del (p.Gly884fs) rs2149358561
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2670G>T (p.Gln890His) rs2544619003
NM_001297.5(CNGB1):c.2670_2671dup (p.Thr891fs) rs1394513954
NM_001297.5(CNGB1):c.2674TAC[1] (p.Tyr893del) rs2544618984
NM_001297.5(CNGB1):c.2682C>T (p.Arg894=) rs2544618972
NM_001297.5(CNGB1):c.268G>A (p.Ala90Thr) rs368957667
NM_001297.5(CNGB1):c.2692G>A (p.Asp898Asn) rs1567369373
NM_001297.5(CNGB1):c.2695A>C (p.Ser899Arg) rs1249610249
NM_001297.5(CNGB1):c.2698A>G (p.Thr900Ala) rs2544618925
NM_001297.5(CNGB1):c.2699C>G (p.Thr900Arg)
NM_001297.5(CNGB1):c.2699C>T (p.Thr900Met) rs558302615
NM_001297.5(CNGB1):c.2705A>C (p.Lys902Thr) rs2544618907
NM_001297.5(CNGB1):c.2707T>C (p.Tyr903His) rs924004848
NM_001297.5(CNGB1):c.2727C>T (p.Ile909=) rs2544618837
NM_001297.5(CNGB1):c.2728C>G (p.Pro910Ala) rs2544618833
NM_001297.5(CNGB1):c.2744A>G (p.Asn915Ser) rs2544618799
NM_001297.5(CNGB1):c.2752A>G (p.Lys918Glu) rs1960457862
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) rs1064794342
NM_001297.5(CNGB1):c.2764G>A (p.Glu922Lys) rs373209562
NM_001297.5(CNGB1):c.2767T>A (p.Tyr923Asn) rs1960457123
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter) rs2149358455
NM_001297.5(CNGB1):c.2794+18T>C rs2544618593
NM_001297.5(CNGB1):c.2794+3A>G rs1454218315
NM_001297.5(CNGB1):c.2794+6A>G rs2149358442
NM_001297.5(CNGB1):c.2795-10T>G rs569149092
NM_001297.5(CNGB1):c.2795-13G>T rs940915867
NM_001297.5(CNGB1):c.2795-19T>A rs1960394940
NM_001297.5(CNGB1):c.2805del (p.Glu935fs) rs1189454389
NM_001297.5(CNGB1):c.2847C>T (p.Ala949=) rs754430019
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.5(CNGB1):c.2853C>T (p.Asp951=) rs7190978
NM_001297.5(CNGB1):c.2881G>A (p.Ala961Thr) rs16942445
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.2881_2882delinsAT (p.Ala961Ile) rs2149357427
NM_001297.5(CNGB1):c.2893-14C>T rs761447716
NM_001297.5(CNGB1):c.2893-5G>C rs1960384662
NM_001297.5(CNGB1):c.2893-8C>G rs377216982
NM_001297.5(CNGB1):c.2893-8C>T rs377216982
NM_001297.5(CNGB1):c.2893-9C>A rs1960384950
NM_001297.5(CNGB1):c.290+11A>G rs1247230459
NM_001297.5(CNGB1):c.290+16C>A rs1200583364
NM_001297.5(CNGB1):c.290+1G>A rs1167613754
NM_001297.5(CNGB1):c.290+4C>G rs1458415746
NM_001297.5(CNGB1):c.290+5T>C rs2149388540
NM_001297.5(CNGB1):c.290+8dup rs2149388533
NM_001297.5(CNGB1):c.291-4G>A rs746431824
NM_001297.5(CNGB1):c.291-7A>G rs769014465
NM_001297.5(CNGB1):c.2910del (p.Met970fs) rs2149357361
NM_001297.5(CNGB1):c.2915T>C (p.Phe972Ser) rs2544615942
NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) rs570828500
NM_001297.5(CNGB1):c.2948A>G (p.Tyr983Cys) rs750517469
NM_001297.5(CNGB1):c.2965G>A (p.Val989Met) rs2544615870
NM_001297.5(CNGB1):c.2974_2976+992delinsCCCGAGGCACATGTGTGTTGACTGCATAGAGGCGGCAAAGCCTCCTAATCCGCCCCTGCTCTTGG rs2149356861
NM_001297.5(CNGB1):c.2976+18C>A rs2149357302
NM_001297.5(CNGB1):c.2977-5T>A rs2149355780
NM_001297.5(CNGB1):c.2977-8T>G rs1960280322
NM_001297.5(CNGB1):c.2977G>A (p.Gly993Arg) rs1960280058
NM_001297.5(CNGB1):c.297C>A (p.Ser99Arg) rs1012624729
NM_001297.5(CNGB1):c.297C>T (p.Ser99=) rs1012624729
NM_001297.5(CNGB1):c.2989C>T (p.Arg997Cys) rs781615372
NM_001297.5(CNGB1):c.2991T>G (p.Arg997=) rs1960279144
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001297.5(CNGB1):c.299G>T (p.Arg100Leu) rs13336595
NM_001297.5(CNGB1):c.3003C>T (p.Ile1001=) rs1355781082
NM_001297.5(CNGB1):c.3010G>T (p.Ala1004Ser) rs1064794335
NM_001297.5(CNGB1):c.3014G>A (p.Gly1005Glu) rs370740471
NM_001297.5(CNGB1):c.3029T>C (p.Leu1010Ser) rs2149355734
NM_001297.5(CNGB1):c.3033C>A (p.Gly1011=) rs772877765
NM_001297.5(CNGB1):c.3063G>A (p.Thr1021=) rs902632425
NM_001297.5(CNGB1):c.306A>G (p.Val102=) rs1387808988
NM_001297.5(CNGB1):c.3073_3081dup (p.Gly1025_Val1027dup) rs2149355705
NM_001297.5(CNGB1):c.3095+1G>A rs758524873
NM_001297.5(CNGB1):c.3095+8G>A
NM_001297.5(CNGB1):c.3096-15C>T
NM_001297.5(CNGB1):c.3106G>C (p.Val1036Leu) rs750379218
NM_001297.5(CNGB1):c.3111G>A (p.Gly1037=) rs761350175
NM_001297.5(CNGB1):c.3111G>T (p.Gly1037=) rs761350175
NM_001297.5(CNGB1):c.3117G>A (p.Gly1039=)
NM_001297.5(CNGB1):c.3122G>A (p.Arg1041Gln) rs192178968
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.3144G>C (p.Ala1048=)
NM_001297.5(CNGB1):c.3147C>A (p.His1049Gln) rs200581517
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_001297.5(CNGB1):c.3158A>C (p.Asn1053Thr) rs1299863739
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001297.5(CNGB1):c.3192G>A (p.Glu1064=) rs767959077
NM_001297.5(CNGB1):c.3218A>G (p.Gln1073Arg) rs1960261310
NM_001297.5(CNGB1):c.3235A>G (p.Lys1079Glu) rs1960260452
NM_001297.5(CNGB1):c.3241A>G (p.Arg1081Gly) rs2544611944
NM_001297.5(CNGB1):c.3242+17del rs775022391
NM_001297.5(CNGB1):c.3242+6T>C rs2544611924
NM_001297.5(CNGB1):c.3242+9C>T rs371348182
NM_001297.5(CNGB1):c.3243-18G>A
NM_001297.5(CNGB1):c.3243-9T>G rs2544603391
NM_001297.5(CNGB1):c.3245G>A (p.Arg1082His) rs777517690
NM_001297.5(CNGB1):c.3267G>A (p.Lys1089=)
NM_001297.5(CNGB1):c.3274GAG[1] (p.Glu1093del) rs1293177856
NM_001297.5(CNGB1):c.3277G>A (p.Glu1093Lys) rs1959983076
NM_001297.5(CNGB1):c.3282G>A (p.Lys1094=) rs1048461431
NM_001297.5(CNGB1):c.3289C>T (p.Leu1097=) rs757504870
NM_001297.5(CNGB1):c.3312C>T (p.Gly1104=)
NM_001297.5(CNGB1):c.3322C>T (p.Leu1108Phe) rs2149351805
NM_001297.5(CNGB1):c.3333T>C (p.Ala1111=) rs2544603208
NM_001297.5(CNGB1):c.3336C>A (p.Ala1112=)
NM_001297.5(CNGB1):c.3337C>A (p.Leu1113Ile) rs1218592501
NM_001297.5(CNGB1):c.3340G>C (p.Ala1114Pro) rs200242407
NM_001297.5(CNGB1):c.3353A>G (p.Lys1118Arg) rs2544603181
NM_001297.5(CNGB1):c.3355A>T (p.Met1119Leu) rs1293470776
NM_001297.5(CNGB1):c.339del (p.Ile114fs) rs2149388002
NM_001297.5(CNGB1):c.3402C>T (p.Ala1134=) rs2544603109
NM_001297.5(CNGB1):c.3418G>T (p.Ala1140Ser) rs1223537934
NM_001297.5(CNGB1):c.3420C>A (p.Ala1140=) rs371860152
NM_001297.5(CNGB1):c.3420C>T (p.Ala1140=) rs371860152
NM_001297.5(CNGB1):c.3424C>G (p.Leu1142Val) rs1596945545
NM_001297.5(CNGB1):c.3429G>A (p.Glu1143=)
NM_001297.5(CNGB1):c.3444G>A (p.Gln1148=) rs754441053
NM_001297.5(CNGB1):c.3462+7_3462+8inv
NM_001297.5(CNGB1):c.3462+8G>T rs368962905
NM_001297.5(CNGB1):c.3474G>A (p.Ser1158=) rs375729452
NM_001297.5(CNGB1):c.347A>G (p.Gln116Arg) rs2149387995
NM_001297.5(CNGB1):c.3513C>T (p.Asp1171=) rs781217584
NM_001297.5(CNGB1):c.3515A>G (p.Gln1172Arg) rs751766451
NM_001297.5(CNGB1):c.3533A>T (p.Glu1178Val) rs1959850336
NM_001297.5(CNGB1):c.354T>A (p.Val118=) rs1962299506
NM_001297.5(CNGB1):c.3552C>G (p.Pro1184=) rs547549398
NM_001297.5(CNGB1):c.3558C>T (p.Pro1186=) rs1489488677
NM_001297.5(CNGB1):c.3559C>T (p.Arg1187Trp) rs564918974
NM_001297.5(CNGB1):c.3571G>A (p.Glu1191Lys) rs777912112
NM_001297.5(CNGB1):c.3577C>T (p.Pro1193Ser) rs780383898
NM_001297.5(CNGB1):c.3578C>T (p.Pro1193Leu) rs1959846562
NM_001297.5(CNGB1):c.3582dup (p.Ser1195fs) rs2149350174
NM_001297.5(CNGB1):c.3591G>C (p.Pro1197=) rs2544599617
NM_001297.5(CNGB1):c.3616G>C (p.Gly1206Arg) rs1959843755
NM_001297.5(CNGB1):c.3629G>T (p.Gly1210Val) rs866203302
NM_001297.5(CNGB1):c.3643C>A (p.Pro1215Thr) rs1959842423
NM_001297.5(CNGB1):c.3654C>T (p.Pro1218=) rs771439069
NM_001297.5(CNGB1):c.3655G>C (p.Glu1219Gln) rs773308978
NM_001297.5(CNGB1):c.3665C>T (p.Ser1222Leu) rs1959841067
NM_001297.5(CNGB1):c.3674T>A (p.Ile1225Asn) rs1045278021
NM_001297.5(CNGB1):c.3681G>A (p.Met1227Ile) rs2544599435
NM_001297.5(CNGB1):c.3689del (p.Gly1230fs) rs781337569
NM_001297.5(CNGB1):c.3693G>C (p.Pro1231=) rs756850659
NM_001297.5(CNGB1):c.3713T>C (p.Leu1238Pro) rs2544599359
NM_001297.5(CNGB1):c.3717G>C (p.Ser1239=) rs202083169
NM_001297.5(CNGB1):c.372C>T (p.Asp124=)
NM_001297.5(CNGB1):c.3743A>C (p.Glu1248Ala) rs2149350034
NM_001297.5(CNGB1):c.3750G>T (p.Ala1250=)
NM_001297.5(CNGB1):c.375G>A (p.Pro125=) rs1406243873
NM_001297.5(CNGB1):c.37C>G (p.Pro13Ala) rs759303047
NM_001297.5(CNGB1):c.382-15G>T rs747578508
NM_001297.5(CNGB1):c.382-24TGTC[3] rs748831057
NM_001297.5(CNGB1):c.382-24TGTC[5] rs748831057
NM_001297.5(CNGB1):c.382-3C>G rs772200098
NM_001297.5(CNGB1):c.387G>A (p.Leu129=) rs1962293389
NM_001297.5(CNGB1):c.412+11G>A rs1962292262
NM_001297.5(CNGB1):c.412+17G>C rs374522750
NM_001297.5(CNGB1):c.412+1G>T rs1377594602
NM_001297.5(CNGB1):c.413-20T>C
NM_001297.5(CNGB1):c.417C>T (p.Cys139=) rs1346391067
NM_001297.5(CNGB1):c.428C>T (p.Pro143Leu) rs1962285916
NM_001297.5(CNGB1):c.440_448dup (p.Leu147_Ala149dup) rs756431055
NM_001297.5(CNGB1):c.446C>T (p.Ala149Val) rs2149387761
NM_001297.5(CNGB1):c.459-12G>A
NM_001297.5(CNGB1):c.459-12G>T rs528462891
NM_001297.5(CNGB1):c.459-16A>G rs1220993632
NM_001297.5(CNGB1):c.459-2A>G rs2544678258
NM_001297.5(CNGB1):c.469C>A (p.Arg157=) rs775590206
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp) rs775590206
NM_001297.5(CNGB1):c.476T>A (p.Leu159His) rs2149387027
NM_001297.5(CNGB1):c.477T>C (p.Leu159=) rs1232030692
NM_001297.5(CNGB1):c.499G>T (p.Glu167Ter) rs777876683
NM_001297.5(CNGB1):c.499del (p.Glu167fs) rs2544678151
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933
NM_001297.5(CNGB1):c.518C>T (p.Pro173Leu) rs1962235033
NM_001297.5(CNGB1):c.51G>A (p.Arg17=) rs2149390215
NM_001297.5(CNGB1):c.522C>T (p.Pro174=) rs1439592662
NM_001297.5(CNGB1):c.532G>A (p.Glu178Lys) rs372542108
NM_001297.5(CNGB1):c.534+14G>A rs781549191
NM_001297.5(CNGB1):c.535-12_535-11insTC rs752118911
NM_001297.5(CNGB1):c.535-15C>T
NM_001297.5(CNGB1):c.535G>A (p.Val179Ile) rs1962220763
NM_001297.5(CNGB1):c.546T>C (p.Asp182=) rs779592384
NM_001297.5(CNGB1):c.553G>A (p.Ala185Thr) rs2149386811
NM_001297.5(CNGB1):c.580C>T (p.Pro194Ser) rs765320710
NM_001297.5(CNGB1):c.581C>G (p.Pro194Arg) rs1272010203
NM_001297.5(CNGB1):c.581C>T (p.Pro194Leu) rs1272010203
NM_001297.5(CNGB1):c.584-14T>C rs2149386601
NM_001297.5(CNGB1):c.584-18G>A
NM_001297.5(CNGB1):c.593G>A (p.Gly198Glu) rs1251833902
NM_001297.5(CNGB1):c.60del (p.Met21fs) rs1962422577
NM_001297.5(CNGB1):c.610G>C (p.Gly204Arg) rs201654405
NM_001297.5(CNGB1):c.618G>A (p.Lys206=) rs2149386558
NM_001297.5(CNGB1):c.620T>C (p.Leu207Pro) rs774807951
NM_001297.5(CNGB1):c.623A>G (p.Gln208Arg) rs2149386554
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln) rs759153238
NM_001297.5(CNGB1):c.64C>T (p.Gln22Ter)
NM_001297.5(CNGB1):c.657C>A (p.Ile219=) rs749813964
NM_001297.5(CNGB1):c.657C>T (p.Ile219=) rs749813964
NM_001297.5(CNGB1):c.659C>T (p.Pro220Leu) rs756293354
NM_001297.5(CNGB1):c.667C>T (p.Pro223Ser) rs2544676472
NM_001297.5(CNGB1):c.681C>T (p.Pro227=) rs2544676445
NM_001297.5(CNGB1):c.699A>G (p.Pro233=) rs1160710673
NM_001297.5(CNGB1):c.702G>A (p.Glu234=) rs2149386497
NM_001297.5(CNGB1):c.714C>T (p.Gly238=) rs770568024
NM_001297.5(CNGB1):c.72A>T (p.Glu24Asp) rs1962422041
NM_001297.5(CNGB1):c.738G>A (p.Leu246=) rs2149386438
NM_001297.5(CNGB1):c.747C>G (p.Thr249=) rs1211355626
NM_001297.5(CNGB1):c.761+13C>T rs1338061290
NM_001297.5(CNGB1):c.761+1G>C
NM_001297.5(CNGB1):c.761+3G>A rs2544676219
NM_001297.5(CNGB1):c.761+9C>T rs2149386406
NM_001297.5(CNGB1):c.762-11C>T rs2544674287
NM_001297.5(CNGB1):c.762-8A>C
NM_001297.5(CNGB1):c.769G>A (p.Ala257Thr) rs771075912
NM_001297.5(CNGB1):c.801del (p.Leu267fs) rs2544674147
NM_001297.5(CNGB1):c.803C>T (p.Pro268Leu) rs369288085
NM_001297.5(CNGB1):c.816_819del (p.His273fs)
NM_001297.5(CNGB1):c.821G>T (p.Gly274Val) rs2544674089
NM_001297.5(CNGB1):c.822G>A (p.Gly274=)
NM_001297.5(CNGB1):c.837+17T>C
NM_001297.5(CNGB1):c.837+6T>C rs1175038409
NM_001297.5(CNGB1):c.838-12C>T rs1962116975
NM_001297.5(CNGB1):c.874+11C>T rs1403119121
NM_001297.5(CNGB1):c.874+2168_970del
NM_001297.5(CNGB1):c.875-11G>A rs2544665765
NM_001297.5(CNGB1):c.875-20T>C rs2544665777
NM_001297.5(CNGB1):c.875-8C>A rs1314153462
NM_001297.5(CNGB1):c.875-8C>T rs1314153462
NM_001297.5(CNGB1):c.906T>C (p.Pro302=) rs2149381813
NM_001297.5(CNGB1):c.938G>A (p.Trp313Ter) rs1242363114
NM_001297.5(CNGB1):c.956A>G (p.Asp319Gly) rs1961919691
NM_001297.5(CNGB1):c.962G>A (p.Ser321Asn) rs767977155
NM_001297.5(CNGB1):c.969C>T (p.Ser323=) rs1961919236
NM_001297.5(CNGB1):c.978T>C (p.Gly326=) rs2149381773
NM_001297.5(CNGB1):c.987G>A (p.Val329=) rs2544665519
NM_001297.5(CNGB1):c.988G>A (p.Val330Ile) rs775599315

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