ClinVar Miner

List of variants in gene CRX studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 429
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_000554.6(CRX):c.*401A>C rs3848537 0.32753
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.*436G>T rs759530877 0.01473
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_000554.6(CRX):c.*2739G>A rs149039830 0.00452
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_000554.6(CRX):c.*767G>A rs544037698 0.00339
NM_000554.6(CRX):c.*2137G>A rs181823708 0.00337
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_000554.6(CRX):c.*756T>A rs886054553 0.00270
NM_000554.6(CRX):c.*839C>T rs541379131 0.00239
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.*595C>T rs111448395 0.00176
NM_000554.6(CRX):c.*2039C>T rs189556251 0.00156
NM_000554.6(CRX):c.*683G>A rs867379668 0.00149
NM_000554.6(CRX):c.*996C>G rs550939154 0.00129
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_000554.6(CRX):c.*727C>T rs1360823353 0.00103
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_000554.6(CRX):c.*2113A>G rs555800382 0.00065
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000554.6(CRX):c.*1684G>A rs141564522 0.00058
NM_000554.6(CRX):c.*392G>A rs886054550 0.00043
NM_000554.6(CRX):c.*2821G>A rs571610746 0.00041
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.*117T>A rs574641672 0.00030
NM_000554.6(CRX):c.*118C>A rs543729483 0.00030
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_000554.6(CRX):c.22G>C (p.Gly8Arg) rs146240568 0.00023
NM_000554.6(CRX):c.309G>A (p.Gln103=) rs138242846 0.00023
NM_000554.6(CRX):c.-46C>T rs755040084 0.00022
NM_000554.6(CRX):c.778G>A (p.Ala260Thr) rs370592248 0.00021
NM_000554.6(CRX):c.203C>T (p.Ala68Val) rs145649717 0.00020
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_000554.6(CRX):c.*205G>A rs995250251 0.00018
NM_000554.6(CRX):c.*1759G>T rs886054558 0.00017
NM_000554.6(CRX):c.*2404C>T rs544403161 0.00016
NM_000554.6(CRX):c.*907C>T rs559582292 0.00015
NM_000554.6(CRX):c.*746T>C rs886054552 0.00014
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_000554.6(CRX):c.*2402G>T rs901623400 0.00012
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_000554.6(CRX):c.537G>A (p.Leu179=) rs753262074 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_000554.6(CRX):c.*809C>G rs574128797 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_000554.6(CRX):c.564C>T (p.Ser188=) rs148622001 0.00009
NM_000554.6(CRX):c.790G>A (p.Val264Met) rs138146799 0.00009
NM_000554.6(CRX):c.*2343G>A rs928747077 0.00008
NM_000554.6(CRX):c.100+8C>T rs375411321 0.00007
NM_000554.6(CRX):c.159G>A (p.Glu53=) rs767773596 0.00007
NM_000554.6(CRX):c.253-11T>C rs199991284 0.00007
NM_000554.6(CRX):c.565G>A (p.Ala189Thr) rs142111462 0.00007
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_000554.6(CRX):c.*1917G>A rs557773336 0.00006
NM_000554.6(CRX):c.*2539C>T rs146417527 0.00006
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.311A>G (p.Gln104Arg) rs769592519 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_000554.6(CRX):c.*2357G>A rs1053302157 0.00005
NM_000554.6(CRX):c.*498G>A rs1004933827 0.00005
NM_000554.6(CRX):c.101-6C>T rs781316943 0.00005
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_000554.6(CRX):c.344G>A (p.Arg115Gln) rs750727986 0.00005
NM_000554.6(CRX):c.369G>A (p.Thr123=) rs368752695 0.00005
NM_000554.6(CRX):c.552G>A (p.Pro184=) rs779118593 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000554.6(CRX):c.774T>C (p.Tyr258=) rs767273026 0.00005
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) rs760741667 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.42C>T (p.Asn14=) rs774344094 0.00004
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) rs1039194669 0.00004
NM_000554.6(CRX):c.585C>T (p.Tyr195=) rs373497612 0.00004
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) rs376982187 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_000554.6(CRX):c.648C>T (p.Ser216=) rs772398140 0.00004
NM_000554.6(CRX):c.720C>G (p.Pro240=) rs748655180 0.00004
NM_000554.6(CRX):c.789C>T (p.Pro263=) rs550083287 0.00004
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203 0.00004
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) rs781577708 0.00004
NM_000554.6(CRX):c.9G>A (p.Ala3=) rs140766502 0.00004
NM_000554.6(CRX):c.*132G>A rs886054548 0.00003
NM_000554.6(CRX):c.*2573C>T rs886054559 0.00003
NM_000554.6(CRX):c.*2889G>A rs886054561 0.00003
NM_000554.6(CRX):c.100+13G>A rs770361425 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_000554.6(CRX):c.464C>T (p.Thr155Met) rs753466818 0.00003
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) rs146869548 0.00003
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_000554.6(CRX):c.*366C>T rs560185740 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.21G>A (p.Pro7=) rs772745666 0.00002
NM_000554.6(CRX):c.252+8G>C rs773348946 0.00002
NM_000554.6(CRX):c.253-16C>T rs372605680 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) rs745628043 0.00002
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) rs779912365 0.00002
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) rs773154643 0.00002
NM_000554.6(CRX):c.521C>T (p.Ala174Val) rs771028537 0.00002
NM_000554.6(CRX):c.594C>T (p.Ala198=) rs1186532132 0.00002
NM_000554.6(CRX):c.747C>G (p.Ser249=) rs748748807 0.00002
NM_000554.6(CRX):c.*252C>T rs886054549 0.00001
NM_000554.6(CRX):c.*2544G>A rs1281739542 0.00001
NM_000554.6(CRX):c.*2785C>T rs886054560 0.00001
NM_000554.6(CRX):c.*79C>T rs769100863 0.00001
NM_000554.6(CRX):c.*908G>A rs886054554 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys) rs1211313175 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.128G>A (p.Arg43His) rs771736389 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) rs761797993 0.00001
NM_000554.6(CRX):c.195C>T (p.Asp65=) rs757731373 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) rs1568624864 0.00001
NM_000554.6(CRX):c.253-7C>G rs754128724 0.00001
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) rs1209634994 0.00001
NM_000554.6(CRX):c.273G>A (p.Arg91=) rs1254989456 0.00001
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) rs1056691132 0.00001
NM_000554.6(CRX):c.363G>A (p.Ala121=) rs141888455 0.00001
NM_000554.6(CRX):c.367A>G (p.Thr123Ala) rs755554804 0.00001
NM_000554.6(CRX):c.412A>G (p.Ile138Val) rs373934471 0.00001
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) rs149300196 0.00001
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) rs1173779531 0.00001
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) rs559181643 0.00001
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) rs559181643 0.00001
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) rs543243551 0.00001
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) rs758125850 0.00001
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) rs559042370 0.00001
NM_000554.6(CRX):c.673A>C (p.Met225Leu) rs765976845 0.00001
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) rs1461832129 0.00001
NM_000554.6(CRX):c.696G>A (p.Pro232=) rs1466177047 0.00001
NM_000554.6(CRX):c.726G>A (p.Val242=) rs371406142 0.00001
NM_000554.6(CRX):c.740C>T (p.Ala247Val) rs1196719242 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) rs1968173706 0.00001
NM_000554.6(CRX):c.846C>A (p.Pro282=) rs1172429450 0.00001
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_000554.6(CRX):c.8C>T (p.Ala3Val) rs762715327 0.00001
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
NC_000019.10:g.(?_47834444)_(47836394_?)del
NC_000019.10:g.(?_47839300)_(47839987_?)del
NC_000019.10:g.(?_47839320)_(47839967_?)del
NC_000019.9:g.(?_48337701)_(48337820_?)del
NC_000019.9:g.(?_48337701)_(48337820_?)dup
NC_000019.9:g.(?_48337701)_(48339671_?)dup
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48337701)_(48343224_?)dup
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000019.9:g.(?_48342557)_(48343224_?)del
NC_000019.9:g.(?_48342557)_(48343224_?)dup
NC_000019.9:g.(?_48342985)_(48346262_?)del
NM_000554.4:c.(?_-1)_(*1_?)dup
NM_000554.6(CRX):c.*110C>A rs1968176550
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*1223A>G rs1968192567
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*1330C>T rs1049141176
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2225A>G rs1968205705
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2580G>A rs1968211334
NM_000554.6(CRX):c.*272T>C rs1286758532
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2935G>T rs1968215891
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*2979T>C rs1968216535
NM_000554.6(CRX):c.*3077C>G rs965939233
NM_000554.6(CRX):c.*3099C>T rs1968218106
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.100+2T>G
NM_000554.6(CRX):c.100+3G>C rs1568624171
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.100+5G>A
NM_000554.6(CRX):c.101-10C>T
NM_000554.6(CRX):c.101-1G>T rs1968115710
NM_000554.6(CRX):c.101-3del rs727503894
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.109A>C (p.Arg37=)
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
NM_000554.6(CRX):c.123G>A (p.Arg41=) rs181068147
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) rs1437021651
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) rs771736389
NM_000554.6(CRX):c.129C>T (p.Arg43=) rs775065439
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
NM_000554.6(CRX):c.138C>T (p.Phe46=)
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) rs1939392843
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
NM_000554.6(CRX):c.151C>T (p.Leu51=)
NM_000554.6(CRX):c.152_153del (p.Leu51fs) rs1968116898
NM_000554.6(CRX):c.159del (p.Glu53fs)
NM_000554.6(CRX):c.165G>A (p.Glu55=)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.177C>T (p.Ala59=)
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) rs1599985527
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_000554.6(CRX):c.196G>T (p.Val66Phe) rs61748438
NM_000554.6(CRX):c.198C>T (p.Val66=)
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
NM_000554.6(CRX):c.213G>A (p.Glu71=)
NM_000554.6(CRX):c.216G>A (p.Val72=) rs2123739992
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) rs2123740000
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.240G>A (p.Glu80=)
NM_000554.6(CRX):c.252+18_252+24del rs2123740025
NM_000554.6(CRX):c.253-1G>T
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) rs1968160766
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) rs2123738269
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) rs1968160874
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.270G>C (p.Arg90=)
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) rs786205521
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.339G>A (p.Lys113=) rs761978269
NM_000554.6(CRX):c.342C>T (p.Ala114=)
NM_000554.6(CRX):c.345G>A (p.Arg115=) rs1968162928
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) rs1599991109
NM_000554.6(CRX):c.360G>A (p.Lys120=)
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.372C>A (p.Ser124=) rs755797220
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) rs1299569341
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.390T>C (p.Asp130=)
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) rs2123743010
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.406C>T (p.Leu136=)
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.408G>C (p.Leu136=)
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) rs373281561
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) rs774344094
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.441C>A (p.Pro147=)
NM_000554.6(CRX):c.441C>T (p.Pro147=) rs147422878
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) rs760080266
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.462C>T (p.Thr154=) rs2123743108
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.502del (p.Glu168fs) rs1568626209
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.522G>A (p.Ala174=) rs376827106
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) rs543243551
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.52C>T (p.Leu18=)
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) rs926713896
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) rs2123743219
NM_000554.6(CRX):c.534G>C (p.Gly178=)
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.543C>A (p.Ala181=)
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.555T>A (p.Ser185=)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.573T>G (p.Tyr191Ter)
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
NM_000554.6(CRX):c.578T>A (p.Met193Lys) rs771206912
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) rs774657041
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.587C>T (p.Ala196Val) rs1372852556
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.593C>T (p.Ala198Val) rs776232503
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
NM_000554.6(CRX):c.608_609del (p.Ser203fs)
NM_000554.6(CRX):c.60C>G (p.Gly20=) rs769017861
NM_000554.6(CRX):c.60C>T (p.Gly20=)
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) rs2123743395
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) rs1968170166
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
NM_000554.6(CRX):c.633G>A (p.Pro211=)
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.673A>G (p.Met225Val)
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
NM_000554.6(CRX):c.678G>A (p.Val226=)
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) rs1968171338
NM_000554.6(CRX):c.690G>T (p.Gly230=) rs936709261
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
NM_000554.6(CRX):c.702T>C (p.Leu234=) rs992252014
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) rs1968172066
NM_000554.6(CRX):c.714del (p.Gly239fs)
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_000554.6(CRX):c.777C>T (p.Gly259=)
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) rs2123743638
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
NM_000554.6(CRX):c.786C>T (p.Ser262=)
NM_000554.6(CRX):c.790G>T (p.Val264Leu) rs138146799
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.794A>T (p.Asp265Val) rs2123743660
NM_000554.6(CRX):c.798del (p.Leu267fs) rs2123743667
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) rs2123743672
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692
NM_000554.6(CRX):c.81C>T (p.His27=) rs2123738329
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) rs2123743725
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
NM_000554.6(CRX):c.852C>T (p.Asp284=) rs771721958
NM_000554.6(CRX):c.856C>T (p.Leu286=) rs2123743743
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) rs2123743754
NM_000554.6(CRX):c.873G>T (p.Gln291His) rs1968174829
NM_000554.6(CRX):c.876T>C (p.Ser292=) rs2123743757
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) rs2123743769
NM_000554.6(CRX):c.894C>A (p.Ile298=)
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745
NM_000554.6(CRX):c.89T>A (p.Val30Glu)

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