ClinVar Miner

List of variants in gene CR2 studied for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 590
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HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) rs17617 0.88540
NM_001006658.3(CR2):c.1776G>A (p.Leu592=) rs1048971 0.42495
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) rs4308977 0.32718
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) rs17615 0.30786
NM_001006658.3(CR2):c.2012G>A (p.Arg671His) rs17616 0.30700
NM_001006658.3(CR2):c.2328T>C (p.Ile776=) rs61735651 0.09124
NM_001006658.3(CR2):c.58+97G>A rs1876453 0.08516
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) rs17618 0.07668
NM_001006658.3(CR2):c.1617C>T (p.Thr539=) rs34349246 0.02179
NM_001006658.3(CR2):c.2649T>C (p.Gly883=) rs1143665 0.02114
NM_001006658.3(CR2):c.635-20A>T rs17045039 0.00789
NM_001006658.3(CR2):c.445+17A>G rs145095346 0.00786
NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile) rs144075435 0.00520
NM_001006658.3(CR2):c.2240+19A>G rs140933861 0.00357
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001006658.3(CR2):c.2903-3C>A rs372214909 0.00128
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001006658.3(CR2):c.2836G>A (p.Val946Met) rs147451324 0.00115
NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys) rs138979306 0.00113
NM_001006658.3(CR2):c.2844G>A (p.Glu948=) rs61754518 0.00098
NM_001006658.3(CR2):c.1978+7A>T rs201274951 0.00068
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001006658.3(CR2):c.2654G>A (p.Arg885His) rs140808707 0.00061
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) rs143614333 0.00058
NM_001006658.3(CR2):c.2030C>T (p.Thr677Met) rs142648420 0.00056
NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys) rs145499318 0.00042
NM_001006658.3(CR2):c.2146C>T (p.Arg716Trp) rs144014118 0.00041
NM_001006658.3(CR2):c.3251C>A (p.Ser1084Tyr) rs142273168 0.00041
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) rs138062179 0.00034
NM_001006658.3(CR2):c.3189-18C>A rs201592897 0.00034
NM_001006658.3(CR2):c.2006A>G (p.His669Arg) rs139230275 0.00033
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) rs61754517 0.00033
NM_001006658.3(CR2):c.2940C>A (p.Ile980=) rs148770668 0.00032
NM_001006658.3(CR2):c.1494-17C>T rs150388945 0.00031
NM_001006658.3(CR2):c.1395A>G (p.Gln465=) rs188078143 0.00029
NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser) rs142212472 0.00027
NM_001006658.3(CR2):c.3188+13G>A rs199895961 0.00027
NM_001006658.3(CR2):c.641G>A (p.Arg214His) rs141831783 0.00025
NM_001006658.3(CR2):c.200C>G (p.Thr67Ser) rs45573035 0.00024
NM_001006658.3(CR2):c.2445A>G (p.Gly815=) rs141282665 0.00024
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) rs149972318 0.00023
NM_001006658.3(CR2):c.2218G>A (p.Val740Ile) rs546560368 0.00022
NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr) rs138785170 0.00021
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His) rs200182370 0.00021
NM_001006658.3(CR2):c.375C>T (p.Asn125=) rs138096192 0.00018
NM_001006658.3(CR2):c.728A>T (p.Asp243Val) rs368883636 0.00017
NM_001006658.3(CR2):c.2496C>T (p.Ser832=) rs139322251 0.00016
NM_001006658.3(CR2):c.2967G>A (p.Met989Ile) rs146465618 0.00016
NM_001006658.3(CR2):c.58+13G>A rs373721952 0.00016
NM_001006658.3(CR2):c.2156-20_2156-18del rs749874698 0.00015
NM_001006658.3(CR2):c.1383C>G (p.Pro461=) rs150464766 0.00013
NM_001006658.3(CR2):c.3088+14G>A rs558560473 0.00012
NM_001006658.3(CR2):c.2140G>T (p.Ala714Ser) rs183720800 0.00011
NM_001006658.3(CR2):c.2738C>T (p.Pro913Leu) rs772503117 0.00010
NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) rs756904762 0.00010
NM_001006658.3(CR2):c.59-10T>C rs371075381 0.00010
NM_001006658.3(CR2):c.1390C>T (p.Pro464Ser) rs41313740 0.00009
NM_001006658.3(CR2):c.2739G>A (p.Pro913=) rs184057547 0.00009
NM_001006658.3(CR2):c.568G>A (p.Val190Ile) rs201223793 0.00009
NM_001006658.3(CR2):c.135C>T (p.Thr45=) rs139230710 0.00008
NM_001006658.3(CR2):c.2241-6C>T rs200614122 0.00008
NM_001006658.3(CR2):c.3048G>A (p.Ser1016=) rs145934194 0.00008
NM_001006658.3(CR2):c.3243A>G (p.Glu1081=) rs371956919 0.00008
NM_001006658.3(CR2):c.419C>T (p.Pro140Leu) rs563764676 0.00008
NM_001006658.3(CR2):c.763C>A (p.Arg255=) rs61754519 0.00008
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp) rs749360324 0.00007
NM_001006658.3(CR2):c.2773A>G (p.Asn925Asp) rs751506325 0.00007
NM_001006658.3(CR2):c.599C>T (p.Ser200Leu) rs142206860 0.00007
NM_001006658.3(CR2):c.666C>T (p.Pro222=) rs778221461 0.00007
NM_001006658.3(CR2):c.669T>C (p.Asn223=) rs1042114463 0.00007
NM_001006658.3(CR2):c.817+16A>G rs113013210 0.00007
NM_001006658.3(CR2):c.1402+1G>A rs372838534 0.00006
NM_001006658.3(CR2):c.1570+20T>C rs765124055 0.00006
NM_001006658.3(CR2):c.1688G>A (p.Gly563Glu) rs146749523 0.00006
NM_001006658.3(CR2):c.2011C>T (p.Arg671Cys) rs754283444 0.00006
NM_001006658.3(CR2):c.2207G>A (p.Arg736His) rs750302661 0.00006
NM_001006658.3(CR2):c.2358T>C (p.Asn786=) rs200764424 0.00006
NM_001006658.3(CR2):c.2506C>T (p.Pro836Ser) rs147263584 0.00006
NM_001006658.3(CR2):c.2519G>A (p.Arg840Gln) rs201254169 0.00006
NM_001006658.3(CR2):c.2694T>C (p.Gly898=) rs113905197 0.00006
NM_001006658.3(CR2):c.276T>G (p.Pro92=) rs371546344 0.00006
NM_001006658.3(CR2):c.3165C>T (p.Tyr1055=) rs150220212 0.00006
NM_001006658.3(CR2):c.59-8C>T rs138438493 0.00006
NM_001006658.3(CR2):c.640C>T (p.Arg214Cys) rs201760344 0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_001006658.3(CR2):c.1402+8G>A rs748950155 0.00005
NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg) rs148153783 0.00005
NM_001006658.3(CR2):c.2087T>C (p.Leu696Pro) rs371283468 0.00005
NM_001006658.3(CR2):c.21C>T (p.Leu7=) rs779365020 0.00005
NM_001006658.3(CR2):c.2301C>A (p.Phe767Leu) rs772684748 0.00005
NM_001006658.3(CR2):c.2419T>C (p.Cys807Arg) rs138732088 0.00005
NM_001006658.3(CR2):c.2529T>C (p.Pro843=) rs765301217 0.00005
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) rs775594743 0.00005
NM_001006658.3(CR2):c.456C>T (p.Leu152=) rs533297833 0.00005
NM_001006658.3(CR2):c.59-20G>A rs777500765 0.00005
NM_001006658.3(CR2):c.12G>A (p.Ala4=) rs1478924012 0.00004
NM_001006658.3(CR2):c.1353A>G (p.Ile451Met) rs771341490 0.00004
NM_001006658.3(CR2):c.1410G>A (p.Ala470=) rs565317532 0.00004
NM_001006658.3(CR2):c.1597A>T (p.Ile533Phe) rs762951469 0.00004
NM_001006658.3(CR2):c.1915A>C (p.Ser639Arg) rs144121329 0.00004
NM_001006658.3(CR2):c.1928G>A (p.Arg643His) rs748735321 0.00004
NM_001006658.3(CR2):c.2144C>T (p.Pro715Leu) rs751072066 0.00004
NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) rs768521188 0.00004
NM_001006658.3(CR2):c.2743A>G (p.Lys915Glu) rs144005556 0.00004
NM_001006658.3(CR2):c.2873C>T (p.Thr958Ile) rs762306518 0.00004
NM_001006658.3(CR2):c.3090T>C (p.Arg1030=) rs771520863 0.00004
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) rs185689791 0.00004
NM_001006658.3(CR2):c.376G>A (p.Gly126Arg) rs200595124 0.00004
NM_001006658.3(CR2):c.493C>G (p.His165Asp) rs776543969 0.00004
NM_001006658.3(CR2):c.520G>C (p.Ala174Pro) rs370389616 0.00004
NM_001006658.3(CR2):c.639A>G (p.Ala213=) rs766392071 0.00004
NM_001006658.3(CR2):c.740G>A (p.Arg247Gln) rs150622293 0.00004
NM_001006658.3(CR2):c.1409C>T (p.Ala470Val) rs545091003 0.00003
NM_001006658.3(CR2):c.171C>T (p.Leu57=) rs1286391697 0.00003
NM_001006658.3(CR2):c.1833C>T (p.Tyr611=) rs376173832 0.00003
NM_001006658.3(CR2):c.2111G>A (p.Cys704Tyr) rs374563684 0.00003
NM_001006658.3(CR2):c.2156-16A>C rs777216094 0.00003
NM_001006658.3(CR2):c.2228C>T (p.Ser743Phe) rs1357626624 0.00003
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001006658.3(CR2):c.3211C>A (p.Gln1071Lys) rs369363360 0.00003
NM_001006658.3(CR2):c.600G>A (p.Ser200=) rs1212036940 0.00003
NM_001006658.3(CR2):c.621C>T (p.Pro207=) rs573346582 0.00003
NM_001006658.3(CR2):c.665C>T (p.Pro222Leu) rs371733599 0.00003
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu) rs150906379 0.00003
NM_001006658.3(CR2):c.1425A>G (p.Gly475=) rs753628062 0.00002
NM_001006658.3(CR2):c.1468G>C (p.Asp490His) rs143872741 0.00002
NM_001006658.3(CR2):c.1508G>A (p.Gly503Glu) rs756203331 0.00002
NM_001006658.3(CR2):c.1511G>A (p.Ser504Asn) rs763216546 0.00002
NM_001006658.3(CR2):c.1559G>A (p.Arg520His) rs772909129 0.00002
NM_001006658.3(CR2):c.1652C>T (p.Thr551Met) rs778084554 0.00002
NM_001006658.3(CR2):c.1962A>G (p.Ile654Met) rs376587591 0.00002
NM_001006658.3(CR2):c.1965A>G (p.Pro655=) rs772865066 0.00002
NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn) rs1240549356 0.00002
NM_001006658.3(CR2):c.2168A>G (p.His723Arg) rs762638244 0.00002
NM_001006658.3(CR2):c.2226G>A (p.Thr742=) rs374930981 0.00002
NM_001006658.3(CR2):c.2241-4G>A rs756677536 0.00002
NM_001006658.3(CR2):c.250T>C (p.Tyr84His) rs1336533629 0.00002
NM_001006658.3(CR2):c.2578A>G (p.Lys860Glu) rs373514640 0.00002
NM_001006658.3(CR2):c.2586T>A (p.His862Gln) rs776844477 0.00002
NM_001006658.3(CR2):c.2620G>C (p.Asp874His) rs759615903 0.00002
NM_001006658.3(CR2):c.2643G>C (p.Met881Ile) rs568997285 0.00002
NM_001006658.3(CR2):c.2656G>A (p.Val886Met) rs748038018 0.00002
NM_001006658.3(CR2):c.2882A>T (p.Gln961Leu) rs191264913 0.00002
NM_001006658.3(CR2):c.2960G>A (p.Arg987Lys) rs774951053 0.00002
NM_001006658.3(CR2):c.3057A>G (p.Gln1019=) rs143091851 0.00002
NM_001006658.3(CR2):c.3074C>T (p.Ala1025Val) rs1193574112 0.00002
NM_001006658.3(CR2):c.3088+15C>T rs759421529 0.00002
NM_001006658.3(CR2):c.3088+18C>T rs189712638 0.00002
NM_001006658.3(CR2):c.3141C>A (p.Thr1047=) rs776576193 0.00002
NM_001006658.3(CR2):c.3188+15G>A rs1194255781 0.00002
NM_001006658.3(CR2):c.325A>G (p.Arg109Gly) rs374754086 0.00002
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) rs201017642 0.00002
NM_001006658.3(CR2):c.446-10G>T rs1422635726 0.00002
NM_001006658.3(CR2):c.485A>G (p.Asn162Ser) rs190990627 0.00002
NM_001006658.3(CR2):c.507T>A (p.Asn169Lys) rs759285664 0.00002
NM_001006658.3(CR2):c.636G>C (p.Glu212Asp) rs760733654 0.00002
NM_001006658.3(CR2):c.697C>T (p.Arg233Trp) rs755984980 0.00002
NM_001006658.3(CR2):c.1253A>G (p.Asn418Ser) rs368025734 0.00001
NM_001006658.3(CR2):c.1274A>T (p.His425Leu) rs565397037 0.00001
NM_001006658.3(CR2):c.1282C>T (p.Arg428Cys) rs373176986 0.00001
NM_001006658.3(CR2):c.1300T>A (p.Ser434Thr) rs1209951988 0.00001
NM_001006658.3(CR2):c.1322C>G (p.Pro441Arg) rs775269251 0.00001
NM_001006658.3(CR2):c.1402+6A>G rs41274754 0.00001
NM_001006658.3(CR2):c.1493+11G>A rs375667838 0.00001
NM_001006658.3(CR2):c.1537A>G (p.Ile513Val) rs1210123747 0.00001
NM_001006658.3(CR2):c.1561C>G (p.Leu521Val) rs1031620670 0.00001
NM_001006658.3(CR2):c.1571-10A>C rs1424936515 0.00001
NM_001006658.3(CR2):c.1571-6C>T rs759031858 0.00001
NM_001006658.3(CR2):c.1590C>A (p.Pro530=) rs769755477 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001006658.3(CR2):c.1650C>T (p.Thr550=) rs369914899 0.00001
NM_001006658.3(CR2):c.166C>T (p.Arg56Cys) rs780129217 0.00001
NM_001006658.3(CR2):c.169C>T (p.Leu57Phe) rs1039507759 0.00001
NM_001006658.3(CR2):c.1788C>T (p.Ser596=) rs745752930 0.00001
NM_001006658.3(CR2):c.1837A>G (p.Ile613Val) rs765531425 0.00001
NM_001006658.3(CR2):c.1921C>G (p.Gln641Glu) rs755692271 0.00001
NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys) rs1472639999 0.00001
NM_001006658.3(CR2):c.1937C>T (p.Ala646Val) rs1473516032 0.00001
NM_001006658.3(CR2):c.1958A>G (p.Glu653Gly) rs1404530321 0.00001
NM_001006658.3(CR2):c.1985A>G (p.Gln662Arg) rs189823830 0.00001
NM_001006658.3(CR2):c.2001C>T (p.Leu667=) rs773701350 0.00001
NM_001006658.3(CR2):c.2031G>A (p.Thr677=) rs752255693 0.00001
NM_001006658.3(CR2):c.2062T>C (p.Tyr688His) rs757174881 0.00001
NM_001006658.3(CR2):c.2064C>T (p.Tyr688=) rs377320082 0.00001
NM_001006658.3(CR2):c.2110T>C (p.Cys704Arg) rs777109970 0.00001
NM_001006658.3(CR2):c.212T>C (p.Val71Ala) rs776864053 0.00001
NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln) rs368683590 0.00001
NM_001006658.3(CR2):c.214G>A (p.Asp72Asn) rs759188564 0.00001
NM_001006658.3(CR2):c.2160A>G (p.Thr720=) rs1489879720 0.00001
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) rs1334688271 0.00001
NM_001006658.3(CR2):c.2240+17C>G rs1382894694 0.00001
NM_001006658.3(CR2):c.2266C>G (p.Gln756Glu) rs779357644 0.00001
NM_001006658.3(CR2):c.2278G>A (p.Asp760Asn) rs1260586997 0.00001
NM_001006658.3(CR2):c.2324-17C>T rs944912892 0.00001
NM_001006658.3(CR2):c.242A>G (p.Lys81Arg) rs147860820 0.00001
NM_001006658.3(CR2):c.2483A>G (p.His828Arg) rs934864394 0.00001
NM_001006658.3(CR2):c.2536C>T (p.Arg846Cys) rs758938753 0.00001
NM_001006658.3(CR2):c.2538C>T (p.Arg846=) rs113054614 0.00001
NM_001006658.3(CR2):c.2651G>A (p.Ser884Asn) rs200538061 0.00001
NM_001006658.3(CR2):c.2655C>T (p.Arg885=) rs754951032 0.00001
NM_001006658.3(CR2):c.2726G>A (p.Gly909Glu) rs963944104 0.00001
NM_001006658.3(CR2):c.2734C>T (p.Pro912Ser) rs1490277692 0.00001
NM_001006658.3(CR2):c.2754C>T (p.Asn918=) rs776361702 0.00001
NM_001006658.3(CR2):c.2760C>T (p.Asn920=) rs535893935 0.00001
NM_001006658.3(CR2):c.2783G>A (p.Arg928Gln) rs756989345 0.00001
NM_001006658.3(CR2):c.2816G>A (p.Cys939Tyr) rs937641582 0.00001
NM_001006658.3(CR2):c.2829C>T (p.Tyr943=) rs549779335 0.00001
NM_001006658.3(CR2):c.283A>G (p.Ile95Val) rs750220618 0.00001
NM_001006658.3(CR2):c.2863C>T (p.His955Tyr) rs1329384177 0.00001
NM_001006658.3(CR2):c.2879G>A (p.Ser960Asn) rs1470426603 0.00001
NM_001006658.3(CR2):c.2902+4C>A rs1366279164 0.00001
NM_001006658.3(CR2):c.3017dup (p.Glu1007fs) rs779475083 0.00001
NM_001006658.3(CR2):c.3032A>G (p.Gln1011Arg) rs201641677 0.00001
NM_001006658.3(CR2):c.3061A>G (p.Asn1021Asp) rs746404104 0.00001
NM_001006658.3(CR2):c.3085T>A (p.Ser1029Thr) rs1177550039 0.00001
NM_001006658.3(CR2):c.3088+16T>C rs771573990 0.00001
NM_001006658.3(CR2):c.3088+1G>A rs200320927 0.00001
NM_001006658.3(CR2):c.3088C>T (p.Arg1030Cys) rs1358947848 0.00001
NM_001006658.3(CR2):c.3092C>T (p.Ser1031Leu) rs772806588 0.00001
NM_001006658.3(CR2):c.3111T>G (p.Cys1037Trp) rs978563309 0.00001
NM_001006658.3(CR2):c.317C>T (p.Thr106Ile) rs1279283315 0.00001
NM_001006658.3(CR2):c.3188+14C>T rs376109421 0.00001
NM_001006658.3(CR2):c.3198T>C (p.Tyr1066=) rs1377978443 0.00001
NM_001006658.3(CR2):c.3223T>A (p.Phe1075Ile) rs756117589 0.00001
NM_001006658.3(CR2):c.3261A>G (p.Pro1087=) rs374978382 0.00001
NM_001006658.3(CR2):c.327A>G (p.Arg109=) rs1185549545 0.00001
NM_001006658.3(CR2):c.32T>C (p.Leu11Ser) rs748860952 0.00001
NM_001006658.3(CR2):c.334G>A (p.Asp112Asn) rs367581933 0.00001
NM_001006658.3(CR2):c.363C>T (p.Asn121=) rs201962814 0.00001
NM_001006658.3(CR2):c.389T>C (p.Val130Ala) rs543886209 0.00001
NM_001006658.3(CR2):c.445+6T>C rs753028434 0.00001
NM_001006658.3(CR2):c.445+9G>C rs532787805 0.00001
NM_001006658.3(CR2):c.452C>T (p.Pro151Leu) rs138760137 0.00001
NM_001006658.3(CR2):c.52G>A (p.Val18Ile) rs892246082 0.00001
NM_001006658.3(CR2):c.556G>A (p.Gly186Ser) rs1435094750 0.00001
NM_001006658.3(CR2):c.565C>T (p.Leu189Phe) rs1357178966 0.00001
NM_001006658.3(CR2):c.59-12T>G rs1439342810 0.00001
NM_001006658.3(CR2):c.610A>G (p.Ser204Gly) rs1439521722 0.00001
NM_001006658.3(CR2):c.612T>C (p.Ser204=) rs746566723 0.00001
NM_001006658.3(CR2):c.635-14G>A rs373992562 0.00001
NM_001006658.3(CR2):c.635-8T>G rs199889815 0.00001
NM_001006658.3(CR2):c.668A>G (p.Asn223Ser) rs374710389 0.00001
NM_001006658.3(CR2):c.681G>A (p.Lys227=) rs1293514059 0.00001
NM_001006658.3(CR2):c.705T>C (p.Gly235=) rs1439554977 0.00001
NM_001006658.3(CR2):c.729T>C (p.Asp243=) rs774149171 0.00001
NM_001006658.3(CR2):c.734+5G>A rs1658186322 0.00001
NM_001006658.3(CR2):c.74C>G (p.Ser25Cys) rs1437268469 0.00001
NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) rs769307763 0.00001
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) rs1030733127 0.00001
NM_001006658.3(CR2):c.789T>C (p.Val263=) rs765852435 0.00001
NM_001006658.3(CR2):c.97C>T (p.Arg33Trp) rs201201097 0.00001
NM_001006658.3(CR2):c.120C>T (p.Pro40=)
NM_001006658.3(CR2):c.1226-6A>G rs2102304115
NM_001006658.3(CR2):c.1226-8T>C rs538276366
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
NM_001006658.3(CR2):c.1236C>A (p.Ala412=)
NM_001006658.3(CR2):c.1236C>G (p.Ala412=)
NM_001006658.3(CR2):c.125C>T (p.Ala42Val)
NM_001006658.3(CR2):c.1268A>T (p.Asp423Val) rs1658251966
NM_001006658.3(CR2):c.127G>C (p.Val43Leu) rs2102300576
NM_001006658.3(CR2):c.1283G>A (p.Arg428His)
NM_001006658.3(CR2):c.1295G>A (p.Gly432Glu) rs781255614
NM_001006658.3(CR2):c.1295G>C (p.Gly432Ala) rs781255614
NM_001006658.3(CR2):c.1296A>T (p.Gly432=) rs201585844
NM_001006658.3(CR2):c.1318A>G (p.Asn440Asp)
NM_001006658.3(CR2):c.1321C>A (p.Pro441Thr) rs1658253775
NM_001006658.3(CR2):c.1325G>A (p.Gly442Asp)
NM_001006658.3(CR2):c.1333C>G (p.Leu445Val)
NM_001006658.3(CR2):c.1334T>G (p.Leu445Arg) rs2102304234
NM_001006658.3(CR2):c.1346A>G (p.Glu449Gly) rs1658255161
NM_001006658.3(CR2):c.1352T>A (p.Ile451Lys)
NM_001006658.3(CR2):c.1352T>C (p.Ile451Thr) rs1303945667
NM_001006658.3(CR2):c.1372G>A (p.Val458Met) rs765653703
NM_001006658.3(CR2):c.1389A>G (p.Val463=)
NM_001006658.3(CR2):c.1391C>T (p.Pro464Leu)
NM_001006658.3(CR2):c.1402+16T>A
NM_001006658.3(CR2):c.1402+17G>A
NM_001006658.3(CR2):c.1403-11T>C rs2102304391
NM_001006658.3(CR2):c.1403-14G>A
NM_001006658.3(CR2):c.1403-17C>G
NM_001006658.3(CR2):c.1403-7_1403-6del
NM_001006658.3(CR2):c.1410G>C (p.Ala470=) rs565317532
NM_001006658.3(CR2):c.1417G>A (p.Ala473Thr) rs1307691039
NM_001006658.3(CR2):c.1425A>T (p.Gly475=) rs753628062
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
NM_001006658.3(CR2):c.1459G>A (p.Val487Ile)
NM_001006658.3(CR2):c.1466C>G (p.Pro489Arg)
NM_001006658.3(CR2):c.1484G>A (p.Cys495Tyr)
NM_001006658.3(CR2):c.1493+11G>T rs375667838
NM_001006658.3(CR2):c.1493+15A>G
NM_001006658.3(CR2):c.1494-14G>A rs2102304705
NM_001006658.3(CR2):c.1494-16G>A
NM_001006658.3(CR2):c.1509G>A (p.Gly503=)
NM_001006658.3(CR2):c.1511G>T (p.Ser504Ile) rs763216546
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
NM_001006658.3(CR2):c.151T>G (p.Cys51Gly) rs1248514226
NM_001006658.3(CR2):c.1523A>G (p.Glu508Gly) rs2102304745
NM_001006658.3(CR2):c.1524G>A (p.Glu508=)
NM_001006658.3(CR2):c.1558C>T (p.Arg520Cys)
NM_001006658.3(CR2):c.1559G>C (p.Arg520Pro)
NM_001006658.3(CR2):c.156A>G (p.Ser52=)
NM_001006658.3(CR2):c.1570+17A>T
NM_001006658.3(CR2):c.1570+5G>A
NM_001006658.3(CR2):c.1571-11C>A
NM_001006658.3(CR2):c.1571-16C>A
NM_001006658.3(CR2):c.1591C>T (p.Pro531Ser)
NM_001006658.3(CR2):c.1605T>C (p.Asn535=) rs2102305708
NM_001006658.3(CR2):c.1618G>T (p.Gly540Trp) rs760957341
NM_001006658.3(CR2):c.1619G>A (p.Gly540Glu)
NM_001006658.3(CR2):c.1628T>C (p.Leu543Ser) rs1041517725
NM_001006658.3(CR2):c.1633G>C (p.Asp545His)
NM_001006658.3(CR2):c.1646del (p.Gly549fs) rs1658320297
NM_001006658.3(CR2):c.1648A>G (p.Thr550Ala)
NM_001006658.3(CR2):c.1653G>A (p.Thr551=) rs373293174
NM_001006658.3(CR2):c.1653G>T (p.Thr551=)
NM_001006658.3(CR2):c.1655T>C (p.Val552Ala) rs2102305778
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.3(CR2):c.1665A>T (p.Thr555=) rs780877690
NM_001006658.3(CR2):c.1678C>A (p.Pro560Thr) rs1658322230
NM_001006658.3(CR2):c.167G>A (p.Arg56His) rs749471642
NM_001006658.3(CR2):c.168C>T (p.Arg56=) rs2102300615
NM_001006658.3(CR2):c.1700G>C (p.Ser567Thr) rs1658323126
NM_001006658.3(CR2):c.1706T>C (p.Ile569Thr)
NM_001006658.3(CR2):c.1716C>T (p.Ser572=)
NM_001006658.3(CR2):c.1720A>G (p.Ile574Val)
NM_001006658.3(CR2):c.1736A>G (p.Asn579Ser)
NM_001006658.3(CR2):c.173T>C (p.Ile58Thr) rs2102300624
NM_001006658.3(CR2):c.1773C>T (p.Pro591=) rs568507355
NM_001006658.3(CR2):c.1789C>G (p.Leu597Val) rs2102305933
NM_001006658.3(CR2):c.1798G>A (p.Val600Ile) rs768711174
NM_001006658.3(CR2):c.1807T>G (p.Ser603Ala)
NM_001006658.3(CR2):c.182A>C (p.Lys61Thr) rs779099901
NM_001006658.3(CR2):c.1834A>G (p.Lys612Glu) rs1658330531
NM_001006658.3(CR2):c.1844G>T (p.Gly615Val)
NM_001006658.3(CR2):c.1848G>T (p.Lys616Asn)
NM_001006658.3(CR2):c.184A>C (p.Ser62Arg)
NM_001006658.3(CR2):c.1853C>T (p.Ala618Val)
NM_001006658.3(CR2):c.1857A>G (p.Pro619=)
NM_001006658.3(CR2):c.1868A>G (p.Asn623Ser) rs2102306009
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) rs1331358695
NM_001006658.3(CR2):c.1894A>G (p.Ser632Gly) rs1658332296
NM_001006658.3(CR2):c.189A>G (p.Leu63=) rs34486455
NM_001006658.3(CR2):c.1928G>T (p.Arg643Leu) rs748735321
NM_001006658.3(CR2):c.192A>T (p.Leu64Phe)
NM_001006658.3(CR2):c.193T>C (p.Cys65Arg)
NM_001006658.3(CR2):c.1944C>G (p.Asn648Lys) rs1572957473
NM_001006658.3(CR2):c.1966G>A (p.Val656Ile) rs541574155
NM_001006658.3(CR2):c.1975A>G (p.Lys659Glu) rs1247411868
NM_001006658.3(CR2):c.1978+10C>T
NM_001006658.3(CR2):c.1978+19G>A
NM_001006658.3(CR2):c.1978+20G>T
NM_001006658.3(CR2):c.1978+9C>A
NM_001006658.3(CR2):c.1979-16G>A
NM_001006658.3(CR2):c.1979-19A>G
NM_001006658.3(CR2):c.2007T>C (p.His669=)
NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg) rs141171306
NM_001006658.3(CR2):c.2019A>G (p.Thr673=)
NM_001006658.3(CR2):c.202A>G (p.Lys68Glu)
NM_001006658.3(CR2):c.2035T>G (p.Phe679Val)
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
NM_001006658.3(CR2):c.2043C>T (p.Val681=) rs1205385876
NM_001006658.3(CR2):c.2045C>G (p.Ser682Cys) rs1658350470
NM_001006658.3(CR2):c.2067T>C (p.Thr689=) rs2102306483
NM_001006658.3(CR2):c.206A>G (p.Asp69Gly) rs1658109013
NM_001006658.3(CR2):c.2081A>G (p.Tyr694Cys)
NM_001006658.3(CR2):c.2090T>C (p.Val697Ala)
NM_001006658.3(CR2):c.2105T>G (p.Ile702Ser) rs2102306520
NM_001006658.3(CR2):c.2117C>T (p.Pro706Leu)
NM_001006658.3(CR2):c.2127T>C (p.Asn709=) rs762537434
NM_001006658.3(CR2):c.213G>A (p.Val71=)
NM_001006658.3(CR2):c.2150G>T (p.Cys717Phe)
NM_001006658.3(CR2):c.2155+7T>G
NM_001006658.3(CR2):c.2155+7del rs757509836
NM_001006658.3(CR2):c.2156-14C>T
NM_001006658.3(CR2):c.2156-16A>G
NM_001006658.3(CR2):c.215A>G (p.Asp72Gly) rs1438807962
NM_001006658.3(CR2):c.2165A>T (p.Gln722Leu)
NM_001006658.3(CR2):c.2166G>A (p.Gln722=) rs2102306635
NM_001006658.3(CR2):c.2168A>T (p.His723Leu)
NM_001006658.3(CR2):c.2175A>G (p.Arg725=)
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) rs1658357615
NM_001006658.3(CR2):c.2206C>T (p.Arg736Cys) rs1439843661
NM_001006658.3(CR2):c.2211G>A (p.Val737=)
NM_001006658.3(CR2):c.2223T>C (p.Asn741=)
NM_001006658.3(CR2):c.2225C>T (p.Thr742Met)
NM_001006658.3(CR2):c.222C>G (p.Thr74=) rs1263033861
NM_001006658.3(CR2):c.2238T>C (p.Asp746=)
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2240+8T>G
NM_001006658.3(CR2):c.2240G>A (p.Gly747Glu) rs1273753802
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
NM_001006658.3(CR2):c.2250G>A (p.Leu750=)
NM_001006658.3(CR2):c.2252C>G (p.Thr751Ser) rs943572066
NM_001006658.3(CR2):c.2257C>T (p.His753Tyr)
NM_001006658.3(CR2):c.2258A>G (p.His753Arg)
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
NM_001006658.3(CR2):c.2280T>C (p.Asp760=)
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001006658.3(CR2):c.2297G>T (p.Trp766Leu) rs398122863
NM_001006658.3(CR2):c.2299T>C (p.Phe767Leu) rs1021219842
NM_001006658.3(CR2):c.2303A>G (p.Lys768Arg) rs141755970
NM_001006658.3(CR2):c.231A>G (p.Lys77=) rs2102300686
NM_001006658.3(CR2):c.2322A>T (p.Lys774Asn)
NM_001006658.3(CR2):c.2323+16T>C
NM_001006658.3(CR2):c.2323+18A>G rs2102307081
NM_001006658.3(CR2):c.2323+3A>G
NM_001006658.3(CR2):c.2323+5G>A
NM_001006658.3(CR2):c.2324-18C>T
NM_001006658.3(CR2):c.2324-19C>T
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_001006658.3(CR2):c.2337C>G (p.His779Gln) rs552678028
NM_001006658.3(CR2):c.237T>C (p.Ala79=)
NM_001006658.3(CR2):c.2381C>A (p.Ala794Glu) rs1658390177
NM_001006658.3(CR2):c.2394A>G (p.Leu798=)
NM_001006658.3(CR2):c.2394A>T (p.Leu798=)
NM_001006658.3(CR2):c.2395T>A (p.Tyr799Asn) rs1658390569
NM_001006658.3(CR2):c.2397T>C (p.Tyr799=)
NM_001006658.3(CR2):c.2402A>G (p.Asn801Ser) rs2102307506
NM_001006658.3(CR2):c.2411C>G (p.Ser804Cys)
NM_001006658.3(CR2):c.2411C>T (p.Ser804Phe) rs1177912722
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
NM_001006658.3(CR2):c.2438T>C (p.Leu813Pro) rs1658391928
NM_001006658.3(CR2):c.243del (p.Lys81fs) rs1572950925
NM_001006658.3(CR2):c.2460G>T (p.Gln820His)
NM_001006658.3(CR2):c.2472T>C (p.Asp824=) rs1223916481
NM_001006658.3(CR2):c.2479G>C (p.Gly827Arg)
NM_001006658.3(CR2):c.2487A>G (p.Gly829=)
NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn) rs775501900
NM_001006658.3(CR2):c.2499G>T (p.Gly833=)
NM_001006658.3(CR2):c.249A>G (p.Glu83=) rs749360324
NM_001006658.3(CR2):c.2516T>C (p.Leu839Ser) rs1658394736
NM_001006658.3(CR2):c.2518C>G (p.Arg840Gly) rs766671758
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) rs766671758
NM_001006658.3(CR2):c.2519G>C (p.Arg840Pro) rs201254169
NM_001006658.3(CR2):c.2534C>T (p.Thr845Ile)
NM_001006658.3(CR2):c.2561A>G (p.His854Arg) rs780966840
NM_001006658.3(CR2):c.2571G>A (p.Lys857=)
NM_001006658.3(CR2):c.2596T>C (p.Ser866Pro)
NM_001006658.3(CR2):c.2607C>T (p.Asp869=)
NM_001006658.3(CR2):c.2608A>G (p.Ile870Val) rs1658398606
NM_001006658.3(CR2):c.2613G>A (p.Val871=) rs2102307689
NM_001006658.3(CR2):c.2620G>A (p.Asp874Asn)
NM_001006658.3(CR2):c.2638A>G (p.Ile880Val)
NM_001006658.3(CR2):c.2640C>G (p.Ile880Met) rs1191307581
NM_001006658.3(CR2):c.2664G>T (p.Arg888Ser)
NM_001006658.3(CR2):c.2685G>T (p.Trp895Cys) rs1301939743
NM_001006658.3(CR2):c.2687T>C (p.Val896Ala) rs1406696743
NM_001006658.3(CR2):c.2692G>T (p.Gly898Cys)
NM_001006658.3(CR2):c.2697G>T (p.Val899=) rs2102307797
NM_001006658.3(CR2):c.2716+15_2716+19del
NM_001006658.3(CR2):c.2716+2T>C rs2102307813
NM_001006658.3(CR2):c.2716+9C>T
NM_001006658.3(CR2):c.2755G>A (p.Gly919Arg)
NM_001006658.3(CR2):c.2759A>C (p.Asn920Thr)
NM_001006658.3(CR2):c.2761C>A (p.His921Asn)
NM_001006658.3(CR2):c.2775C>A (p.Asn925Lys) rs756303128
NM_001006658.3(CR2):c.2783G>T (p.Arg928Leu) rs756989345
NM_001006658.3(CR2):c.2791C>T (p.Pro931Ser) rs2102308634
NM_001006658.3(CR2):c.2792C>T (p.Pro931Leu) rs2102308641
NM_001006658.3(CR2):c.2803A>G (p.Ile935Val) rs2102308649
NM_001006658.3(CR2):c.2805C>T (p.Ile935=)
NM_001006658.3(CR2):c.2851CTT[1] (p.Leu952del) rs757707093
NM_001006658.3(CR2):c.2864_2865del (p.His955fs) rs2102308703
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) rs764859619
NM_001006658.3(CR2):c.2873C>A (p.Thr958Asn)
NM_001006658.3(CR2):c.2895T>G (p.His965Gln) rs1658443099
NM_001006658.3(CR2):c.2911T>C (p.Cys971Arg)
NM_001006658.3(CR2):c.2920C>A (p.Pro974Thr) rs1292827746
NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu) rs1658484718
NM_001006658.3(CR2):c.2963A>C (p.Lys988Thr)
NM_001006658.3(CR2):c.2973G>T (p.Gln991His)
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) rs1658485394
NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile) rs760387989
NM_001006658.3(CR2):c.2992C>G (p.Leu998Val)
NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp)
NM_001006658.3(CR2):c.3045A>G (p.Gln1015=)
NM_001006658.3(CR2):c.3049G>A (p.Asp1017Asn)
NM_001006658.3(CR2):c.3067C>T (p.Pro1023Ser) rs1180344724
NM_001006658.3(CR2):c.3068C>A (p.Pro1023His)
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
NM_001006658.3(CR2):c.3088+19A>G
NM_001006658.3(CR2):c.3088+8C>T
NM_001006658.3(CR2):c.3089-11A>G
NM_001006658.3(CR2):c.3089-1G>A rs1365226221
NM_001006658.3(CR2):c.3089-3del rs1274247380
NM_001006658.3(CR2):c.3097G>C (p.Ala1033Pro) rs1215462377
NM_001006658.3(CR2):c.3100C>G (p.Pro1034Ala) rs1558196448
NM_001006658.3(CR2):c.3100C>T (p.Pro1034Ser) rs1558196448
NM_001006658.3(CR2):c.3102T>C (p.Pro1034=)
NM_001006658.3(CR2):c.3112+6T>C rs1658533878
NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser)
NM_001006658.3(CR2):c.3113-14G>C
NM_001006658.3(CR2):c.3147G>A (p.Leu1049=)
NM_001006658.3(CR2):c.3166G>T (p.Val1056Leu) rs373698188
NM_001006658.3(CR2):c.3176A>G (p.Lys1059Arg)
NM_001006658.3(CR2):c.3188+18T>C rs1422889749
NM_001006658.3(CR2):c.3188+2del rs1658562210
NM_001006658.3(CR2):c.3189-8C>G
NM_001006658.3(CR2):c.3189-8_3189-7del rs112859639
NM_001006658.3(CR2):c.3201A>G (p.Thr1067=)
NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)
NM_001006658.3(CR2):c.3207A>G (p.Thr1069=)
NM_001006658.3(CR2):c.3209_3211del (p.Ser1070_Gln1071delinsLys)
NM_001006658.3(CR2):c.3210C>T (p.Ser1070=)
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) rs369363360
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
NM_001006658.3(CR2):c.3232G>A (p.Glu1078Lys) rs142489316
NM_001006658.3(CR2):c.3241G>A (p.Glu1081Lys) rs1658726086
NM_001006658.3(CR2):c.3246A>C (p.Val1082=)
NM_001006658.3(CR2):c.3248A>T (p.Tyr1083Phe)
NM_001006658.3(CR2):c.3258T>G (p.Asp1086Glu) rs1658726667
NM_001006658.3(CR2):c.3267C>T (p.Asn1089=) rs1277361561
NM_001006658.3(CR2):c.3270A>G (p.Pro1090=)
NM_001006658.3(CR2):c.357A>G (p.Lys119=) rs769241648
NM_001006658.3(CR2):c.369C>T (p.Ser123=)
NM_001006658.3(CR2):c.370A>G (p.Met124Val)
NM_001006658.3(CR2):c.381C>T (p.Asn127=) rs2102300831
NM_001006658.3(CR2):c.39C>G (p.Leu13=)
NM_001006658.3(CR2):c.40G>C (p.Val14Leu) rs754824683
NM_001006658.3(CR2):c.40dup (p.Val14fs)
NM_001006658.3(CR2):c.412del (p.Trp138fs)
NM_001006658.3(CR2):c.417G>A (p.Gly139=)
NM_001006658.3(CR2):c.420G>A (p.Pro140=)
NM_001006658.3(CR2):c.425G>T (p.Arg142Leu) rs750210048
NM_001006658.3(CR2):c.42C>T (p.Val14=)
NM_001006658.3(CR2):c.431C>T (p.Pro144Leu)
NM_001006658.3(CR2):c.435C>T (p.Thr145=) rs2102300887
NM_001006658.3(CR2):c.438T>G (p.Cys146Trp)
NM_001006658.3(CR2):c.446-12G>A
NM_001006658.3(CR2):c.446-13TG[5]
NM_001006658.3(CR2):c.446-19C>A rs764271765
NM_001006658.3(CR2):c.457G>A (p.Glu153Lys)
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001006658.3(CR2):c.492T>C (p.His164=)
NM_001006658.3(CR2):c.504G>A (p.Glu168=)
NM_001006658.3(CR2):c.517A>G (p.Ile173Val) rs1256350974
NM_001006658.3(CR2):c.523C>T (p.Pro175Ser) rs1318743912
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001006658.3(CR2):c.527G>T (p.Gly176Val)
NM_001006658.3(CR2):c.54C>T (p.Val18=)
NM_001006658.3(CR2):c.556G>T (p.Gly186Cys)
NM_001006658.3(CR2):c.557G>A (p.Gly186Asp)
NM_001006658.3(CR2):c.58+12G>C rs1572942436
NM_001006658.3(CR2):c.58+13G>T
NM_001006658.3(CR2):c.58+19C>T rs770082685
NM_001006658.3(CR2):c.59-13T>C
NM_001006658.3(CR2):c.59-17C>T rs1658101421
NM_001006658.3(CR2):c.59-5T>C
NM_001006658.3(CR2):c.592_595del (p.Ser199fs) rs868255776
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.605A>C (p.Lys202Thr) rs893377104
NM_001006658.3(CR2):c.622C>G (p.Pro208Ala) rs769415969
NM_001006658.3(CR2):c.622C>T (p.Pro208Ser) rs769415969
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>G (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624C>T (p.Pro208=) rs61759494
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.635-3T>C
NM_001006658.3(CR2):c.638C>A (p.Ala213Glu)
NM_001006658.3(CR2):c.659G>A (p.Arg220Gln) rs147633291
NM_001006658.3(CR2):c.659G>T (p.Arg220Leu)
NM_001006658.3(CR2):c.671G>A (p.Gly224Glu)
NM_001006658.3(CR2):c.67T>C (p.Cys23Arg)
NM_001006658.3(CR2):c.685C>G (p.Pro229Ala) rs745407153
NM_001006658.3(CR2):c.691A>G (p.Ile231Val)
NM_001006658.3(CR2):c.694C>T (p.Leu232Phe) rs1274698415
NM_001006658.3(CR2):c.698G>A (p.Arg233Gln)
NM_001006658.3(CR2):c.717del (p.Phe241fs) rs1468427986
NM_001006658.3(CR2):c.721_722del (p.Phe241fs) rs749636258
NM_001006658.3(CR2):c.723C>T (p.Phe241=)
NM_001006658.3(CR2):c.735-18A>G
NM_001006658.3(CR2):c.735-8G>A rs771024465
NM_001006658.3(CR2):c.749G>A (p.Gly250Asp)
NM_001006658.3(CR2):c.763C>T (p.Arg255Trp) rs61754519
NM_001006658.3(CR2):c.764G>A (p.Arg255Gln)
NM_001006658.3(CR2):c.765G>T (p.Arg255=)
NM_001006658.3(CR2):c.768T>C (p.Cys256=)
NM_001006658.3(CR2):c.782A>G (p.Gln261Arg)
NM_001006658.3(CR2):c.787G>A (p.Val263Ile) rs750148498
NM_001006658.3(CR2):c.794G>C (p.Trp265Ser) rs1658194516
NM_001006658.3(CR2):c.7G>T (p.Ala3Ser) rs1423906073
NM_001006658.3(CR2):c.817+13A>G rs2102302776
NM_001006658.3(CR2):c.817+14C>G
NM_001006658.3(CR2):c.81G>A (p.Pro27=) rs577153960
NM_001006658.3(CR2):c.96C>T (p.Gly32=)
NM_001006658.3(CR2):c.98G>A (p.Arg33Gln)
NM_001006658.3(CR2):c.9C>T (p.Ala3=)

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