ClinVar Miner

List of variants in gene CASR reported as likely benign for familial hypoparathyroidism

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 749
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000388.4(CASR):c.1491C>T (p.Ser497=) rs150337940 0.00035
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00027
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177 0.00014
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser) rs201328344 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) rs201449422 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000388.4(CASR):c.2991C>T (p.Ser997=) rs142305357 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.1044C>A (p.Ala348=) rs753606065 0.00006
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.1596G>T (p.Gly532=) rs774666667 0.00006
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg) rs150979829 0.00006
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850 0.00006
NM_000388.4(CASR):c.1638C>T (p.Cys546=) rs143047343 0.00005
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 0.00005
NM_000388.4(CASR):c.2070C>G (p.Leu690=) rs1015701331 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000388.4(CASR):c.1378-20C>T rs199644797 0.00004
NM_000388.4(CASR):c.1732+11C>A rs1032023222 0.00004
NM_000388.4(CASR):c.1733-13G>C rs568934388 0.00004
NM_000388.4(CASR):c.1827G>A (p.Thr609=) rs200868156 0.00004
NM_000388.4(CASR):c.186-19C>T rs372080345 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.1974G>T (p.Leu658=) rs770178952 0.00004
NM_000388.4(CASR):c.2769A>G (p.Pro923=) rs199508670 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.453G>A (p.Thr151=) rs201849172 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000388.4(CASR):c.705C>A (p.Ile235=) rs199887150 0.00004
NM_000388.4(CASR):c.867G>A (p.Thr289=) rs368612147 0.00004
NM_000388.4(CASR):c.1143C>T (p.Gly381=) rs374835228 0.00003
NM_000388.4(CASR):c.1326G>A (p.Gly442=) rs1266818477 0.00003
NM_000388.4(CASR):c.1479C>T (p.Asn493=) rs201076546 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_000388.4(CASR):c.1733-4A>G rs911114845 0.00003
NM_000388.4(CASR):c.2082C>T (p.Cys694=) rs1389988414 0.00003
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp) rs201366240 0.00003
NM_000388.4(CASR):c.2919C>T (p.Val973=) rs201569701 0.00003
NM_000388.4(CASR):c.3148T>C (p.Leu1050=) rs1201397873 0.00003
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly) rs185453682 0.00003
NM_000388.4(CASR):c.493-19T>G rs201735609 0.00003
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.1732+17T>G rs201033132 0.00002
NM_000388.4(CASR):c.1842C>T (p.Ile614=) rs199513106 0.00002
NM_000388.4(CASR):c.1860C>T (p.Ala620=) rs141522130 0.00002
NM_000388.4(CASR):c.1914C>T (p.Arg638=) rs758587851 0.00002
NM_000388.4(CASR):c.1959C>T (p.Leu653=) rs545549211 0.00002
NM_000388.4(CASR):c.2145C>T (p.His715=) rs201242061 0.00002
NM_000388.4(CASR):c.2211C>A (p.Val737=) rs371784919 0.00002
NM_000388.4(CASR):c.2298C>T (p.His766=) rs200723499 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.276G>A (p.Thr92=) rs201013419 0.00002
NM_000388.4(CASR):c.2802G>A (p.Gln934=) rs201771940 0.00002
NM_000388.4(CASR):c.2820G>A (p.Gln940=) rs573406193 0.00002
NM_000388.4(CASR):c.2928A>T (p.Ser976=) rs772563184 0.00002
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.57C>T (p.Ala19=) rs761576251 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.845A>G (p.Glu282Gly) rs751540983 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.1011C>G (p.Val337=) rs201820733 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1131C>T (p.His377=) rs766231362 0.00001
NM_000388.4(CASR):c.1173C>T (p.Phe391=) rs998012311 0.00001
NM_000388.4(CASR):c.1179C>G (p.Pro393=) rs1553766873 0.00001
NM_000388.4(CASR):c.123T>C (p.His41=) rs1331565057 0.00001
NM_000388.4(CASR):c.1281T>C (p.Ile427=) rs771741512 0.00001
NM_000388.4(CASR):c.1320G>A (p.Gly440=) rs200243816 0.00001
NM_000388.4(CASR):c.1338T>C (p.Asn446=) rs762799076 0.00001
NM_000388.4(CASR):c.1371G>A (p.Ala457=) rs766477389 0.00001
NM_000388.4(CASR):c.1377+14T>C rs1272240293 0.00001
NM_000388.4(CASR):c.1377+15T>G rs1343974175 0.00001
NM_000388.4(CASR):c.1378-6C>T rs765745520 0.00001
NM_000388.4(CASR):c.1428G>A (p.Gln476=) rs1457255751 0.00001
NM_000388.4(CASR):c.1431G>C (p.Val477=) rs1160830428 0.00001
NM_000388.4(CASR):c.1449T>G (p.Gly483=) rs771186654 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1476C>T (p.Ile492=) rs1576870344 0.00001
NM_000388.4(CASR):c.1524C>T (p.Val508=) rs868821997 0.00001
NM_000388.4(CASR):c.1545C>G (p.Ala515=) rs1158039366 0.00001
NM_000388.4(CASR):c.1548G>A (p.Lys516=) rs1454679281 0.00001
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) rs199688157 0.00001
NM_000388.4(CASR):c.1587G>A (p.Leu529=) rs762899043 0.00001
NM_000388.4(CASR):c.1609-27C>T rs4678175 0.00001
NM_000388.4(CASR):c.1609-6C>G rs1423240738 0.00001
NM_000388.4(CASR):c.1611G>A (p.Val537=) rs1576875688 0.00001
NM_000388.4(CASR):c.1732+10C>A rs201859314 0.00001
NM_000388.4(CASR):c.177A>G (p.Glu59=) rs200756928 0.00001
NM_000388.4(CASR):c.1806G>A (p.Glu602=) rs779467828 0.00001
NM_000388.4(CASR):c.1809C>A (p.Ile603=) rs1332311514 0.00001
NM_000388.4(CASR):c.1821G>A (p.Ser607=) rs139515396 0.00001
NM_000388.4(CASR):c.1826C>T (p.Thr609Met) rs759904153 0.00001
NM_000388.4(CASR):c.1839G>A (p.Gly613=) rs1173372329 0.00001
NM_000388.4(CASR):c.185+10G>A rs201869423 0.00001
NM_000388.4(CASR):c.186-14C>A rs201342859 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.1884C>A (p.Ala628=) rs767444434 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.1962C>A (p.Leu654=) rs746231094 0.00001
NM_000388.4(CASR):c.2016C>G (p.Pro672=) rs748910237 0.00001
NM_000388.4(CASR):c.201G>A (p.Gly67=) rs1203051815 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2028G>A (p.Thr676=) rs563112343 0.00001
NM_000388.4(CASR):c.2034C>T (p.Arg678=) rs202119951 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.204T>C (p.Phe68=) rs746711010 0.00001
NM_000388.4(CASR):c.2106C>T (p.Val702=) rs1353730603 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2142C>T (p.Phe714=) rs780374949 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2151G>A (p.Lys717=) rs747627445 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2295C>T (p.Cys765=) rs1232096655 0.00001
NM_000388.4(CASR):c.2301G>A (p.Glu767=) rs769706960 0.00001
NM_000388.4(CASR):c.2317C>T (p.Leu773=) rs1244281080 0.00001
NM_000388.4(CASR):c.2328G>A (p.Leu776=) rs750548257 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2331C>T (p.Ile777=) rs760608351 0.00001
NM_000388.4(CASR):c.2334C>T (p.Gly778=) rs1174997420 0.00001
NM_000388.4(CASR):c.2355C>T (p.Ala785=) rs1472693542 0.00001
NM_000388.4(CASR):c.2376C>T (p.Phe792=) rs2074937389 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2442C>T (p.Phe814=) rs200151175 0.00001
NM_000388.4(CASR):c.2448C>T (p.Ile816=) rs781343891 0.00001
NM_000388.4(CASR):c.2499C>T (p.Val833=) rs1240932110 0.00001
NM_000388.4(CASR):c.2550G>A (p.Ala850=) rs867061333 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2571C>T (p.Ile857=) rs1367231182 0.00001
NM_000388.4(CASR):c.2607C>T (p.Ile869=) rs1258806535 0.00001
NM_000388.4(CASR):c.2613G>A (p.Glu871=) rs1553769147 0.00001
NM_000388.4(CASR):c.2637C>T (p.His879=) rs1576878230 0.00001
NM_000388.4(CASR):c.2656C>A (p.Arg886=) rs1559969429 0.00001
NM_000388.4(CASR):c.2672G>A (p.Arg891His) rs533567836 0.00001
NM_000388.4(CASR):c.2679C>T (p.Asn893=) rs756152178 0.00001
NM_000388.4(CASR):c.2718G>A (p.Thr906=) rs1403590168 0.00001
NM_000388.4(CASR):c.2727C>T (p.Thr909=) rs1259364724 0.00001
NM_000388.4(CASR):c.2806C>T (p.Leu936=) rs1396995630 0.00001
NM_000388.4(CASR):c.2829G>A (p.Gln943=) rs764614440 0.00001
NM_000388.4(CASR):c.2838G>A (p.Gln946=) rs774889993 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2916G>A (p.Thr972=) rs769047966 0.00001
NM_000388.4(CASR):c.2934C>T (p.Ser978=) rs773041784 0.00001
NM_000388.4(CASR):c.2964C>G (p.Ala988=) rs202014330 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3012C>T (p.Ser1004=) rs1249991104 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3024C>T (p.Thr1008=) rs773737550 0.00001
NM_000388.4(CASR):c.3045G>A (p.Pro1015=) rs533848602 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3073C>T (p.Leu1025=) rs747388218 0.00001
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile) rs776184769 0.00001
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser) rs762383457 0.00001
NM_000388.4(CASR):c.3129G>A (p.Glu1043=) rs374529579 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.3156A>C (p.Pro1052=) rs199497544 0.00001
NM_000388.4(CASR):c.3210T>A (p.Thr1070=) rs1260226810 0.00001
NM_000388.4(CASR):c.3216A>G (p.Thr1072=) rs1259584809 0.00001
NM_000388.4(CASR):c.333C>T (p.Thr111=) rs758877487 0.00001
NM_000388.4(CASR):c.375T>G (p.Leu125=) rs780725247 0.00001
NM_000388.4(CASR):c.399G>A (p.Glu133=) rs2074565559 0.00001
NM_000388.4(CASR):c.444C>T (p.Gly148=) rs1189990883 0.00001
NM_000388.4(CASR):c.466C>T (p.Leu156=) rs1289582344 0.00001
NM_000388.4(CASR):c.492+5T>A rs200277155 0.00001
NM_000388.4(CASR):c.492+9G>A rs2074567187 0.00001
NM_000388.4(CASR):c.492+9del rs762880287 0.00001
NM_000388.4(CASR):c.493-11G>C rs200769140 0.00001
NM_000388.4(CASR):c.514A>C (p.Arg172=) rs201851934 0.00001
NM_000388.4(CASR):c.51C>T (p.Thr17=) rs1483411909 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.553C>A (p.Arg185=) rs104893707 0.00001
NM_000388.4(CASR):c.579G>A (p.Gln193=) rs933291696 0.00001
NM_000388.4(CASR):c.627G>A (p.Val209=) rs1335382846 0.00001
NM_000388.4(CASR):c.657G>A (p.Gly219=) rs768101011 0.00001
NM_000388.4(CASR):c.663G>A (p.Pro221=) rs750830429 0.00001
NM_000388.4(CASR):c.681A>G (p.Arg227=) rs766844902 0.00001
NM_000388.4(CASR):c.693G>A (p.Glu231=) rs1348427911 0.00001
NM_000388.4(CASR):c.732C>T (p.Ser244=) rs1366676707 0.00001
NM_000388.4(CASR):c.735G>A (p.Gln245=) rs1362875083 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.759G>A (p.Gln253=) rs2074626789 0.00001
NM_000388.4(CASR):c.780A>G (p.Gln260=) rs1060504734 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.828T>C (p.Leu276=) rs767726621 0.00001
NM_000388.4(CASR):c.852C>A (p.Val284=) rs1489604903 0.00001
NM_000388.4(CASR):c.882G>A (p.Leu294=) rs371941718 0.00001
NM_000388.4(CASR):c.939G>A (p.Val313=) rs750302987 0.00001
NM_000388.4(CASR):c.945C>T (p.Gly315=) rs1053891124 0.00001
NM_000388.4(CASR):c.960C>T (p.Phe320=) rs753011255 0.00001
NM_000388.4(CASR):c.96T>C (p.Ile32=) rs144604474 0.00001
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1002G>A (p.Leu334=) rs2107632694
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1014T>C (p.His338=) rs1553766831
NM_000388.4(CASR):c.1017C>A (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1017C>T (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1020G>A (p.Arg340=)
NM_000388.4(CASR):c.1029C>A (p.Val343=)
NM_000388.4(CASR):c.1032C>T (p.His344=) rs2107632776
NM_000388.4(CASR):c.1044C>T (p.Ala348=)
NM_000388.4(CASR):c.1050G>A (p.Glu350=)
NM_000388.4(CASR):c.1062A>G (p.Glu354=)
NM_000388.4(CASR):c.1071C>T (p.Asn357=)
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
NM_000388.4(CASR):c.1080C>A (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1080C>G (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1092A>C (p.Ala364=) rs2107632879
NM_000388.4(CASR):c.1113C>T (p.Asp371=) rs1320065729
NM_000388.4(CASR):c.1116C>G (p.Thr372=)
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.111C>T (p.Leu37=) rs2074530079
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1143C>A (p.Gly381=) rs374835228
NM_000388.4(CASR):c.1149G>A (p.Arg383=)
NM_000388.4(CASR):c.1155C>T (p.Ser385=)
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>C (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>T (p.Ser388=)
NM_000388.4(CASR):c.1170C>T (p.Ala390=) rs1264660850
NM_000388.4(CASR):c.1174C>A (p.Arg392=) rs1559959758
NM_000388.4(CASR):c.1176A>T (p.Arg392=) rs1576859254
NM_000388.4(CASR):c.1179C>A (p.Pro393=)
NM_000388.4(CASR):c.1179C>T (p.Pro393=) rs1553766873
NM_000388.4(CASR):c.117T>G (p.Pro39=)
NM_000388.4(CASR):c.1191G>A (p.Gly397=)
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1212C>G (p.Val404=) rs967661303
NM_000388.4(CASR):c.1212C>T (p.Val404=) rs967661303
NM_000388.4(CASR):c.1224C>T (p.Tyr408=) rs2107633125
NM_000388.4(CASR):c.1233C>T (p.Tyr411=) rs2107633138
NM_000388.4(CASR):c.1236G>A (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1236G>T (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1251C>T (p.Ser417=) rs2107633167
NM_000388.4(CASR):c.1254C>T (p.Tyr418=) rs1325695500
NM_000388.4(CASR):c.1257T>C (p.Asn419=) rs1350678512
NM_000388.4(CASR):c.1260G>A (p.Val420=)
NM_000388.4(CASR):c.1278C>T (p.Ser426=) rs748460866
NM_000388.4(CASR):c.1284C>T (p.Ala428=) rs2107633210
NM_000388.4(CASR):c.1290C>T (p.Ala430=)
NM_000388.4(CASR):c.1293G>A (p.Leu431=)
NM_000388.4(CASR):c.1305T>C (p.Tyr435=) rs1553766914
NM_000388.4(CASR):c.1311C>T (p.Cys437=) rs2107633255
NM_000388.4(CASR):c.1312T>C (p.Leu438=) rs1304302853
NM_000388.4(CASR):c.1317T>C (p.Pro439=) rs765170020
NM_000388.4(CASR):c.1341C>T (p.Gly447=) rs1576859552
NM_000388.4(CASR):c.1371G>C (p.Ala457=)
NM_000388.4(CASR):c.1377+13C>T
NM_000388.4(CASR):c.1377+14T>G
NM_000388.4(CASR):c.1377+19T>C rs2074639946
NM_000388.4(CASR):c.1377+20A>C
NM_000388.4(CASR):c.1378-11C>T rs2107643342
NM_000388.4(CASR):c.1378-16C>A
NM_000388.4(CASR):c.1378-16C>G rs200620953
NM_000388.4(CASR):c.1378-7T>C rs1227939510
NM_000388.4(CASR):c.1378-9C>T
NM_000388.4(CASR):c.1381C>T (p.Leu461=) rs2107643359
NM_000388.4(CASR):c.1386G>A (p.Lys462=)
NM_000388.4(CASR):c.1389C>T (p.His463=) rs201572629
NM_000388.4(CASR):c.1392A>G (p.Leu464=) rs2107643383
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1395G>C (p.Arg465=)
NM_000388.4(CASR):c.1398T>C (p.His466=) rs760939658
NM_000388.4(CASR):c.1410A>C (p.Thr470=) rs199886514
NM_000388.4(CASR):c.1416T>C (p.Asn472=) rs1576870201
NM_000388.4(CASR):c.1425G>A (p.Glu475=) rs2107643445
NM_000388.4(CASR):c.1437T>C (p.Phe479=) rs143360516
NM_000388.4(CASR):c.1443G>A (p.Glu481=)
NM_000388.4(CASR):c.1449T>C (p.Gly483=) rs771186654
NM_000388.4(CASR):c.1453C>T (p.Leu485=) rs2107643506
NM_000388.4(CASR):c.1455G>A (p.Leu485=)
NM_000388.4(CASR):c.1458G>A (p.Val486=) rs2074812399
NM_000388.4(CASR):c.1464C>T (p.Asn488=)
NM_000388.4(CASR):c.1467T>C (p.Tyr489=) rs1576870324
NM_000388.4(CASR):c.147A>G (p.Gln49=)
NM_000388.4(CASR):c.1491C>A (p.Ser497=) rs150337940
NM_000388.4(CASR):c.1506C>A (p.Ser502=) rs1576870401
NM_000388.4(CASR):c.1506C>T (p.Ser502=)
NM_000388.4(CASR):c.1509C>T (p.Ile503=) rs757499017
NM_000388.4(CASR):c.1512G>A (p.Val504=) rs2074813597
NM_000388.4(CASR):c.1515T>C (p.Phe505=)
NM_000388.4(CASR):c.1527G>A (p.Gly509=) rs2107643649
NM_000388.4(CASR):c.1536C>T (p.Asn512=) rs887358400
NM_000388.4(CASR):c.1539C>T (p.Val513=) rs1553768122
NM_000388.4(CASR):c.153C>T (p.Leu51=)
NM_000388.4(CASR):c.1542T>C (p.Tyr514=)
NM_000388.4(CASR):c.1551G>A (p.Lys517=)
NM_000388.4(CASR):c.1557A>G (p.Glu519=)
NM_000388.4(CASR):c.1560A>G (p.Arg520=)
NM_000388.4(CASR):c.1563C>T (p.Leu521=)
NM_000388.4(CASR):c.1566C>T (p.Phe522=)
NM_000388.4(CASR):c.156A>G (p.Lys52=) rs2107625024
NM_000388.4(CASR):c.1572C>T (p.Asn524=) rs776534485
NM_000388.4(CASR):c.1575G>A (p.Glu525=) rs898193456
NM_000388.4(CASR):c.1596G>A (p.Gly532=) rs774666667
NM_000388.4(CASR):c.159A>C (p.Ser53=)
NM_000388.4(CASR):c.1608+10G>A rs2074816255
NM_000388.4(CASR):c.1608+14A>G rs1350749810
NM_000388.4(CASR):c.1608+16C>G
NM_000388.4(CASR):c.1608+7G>T
NM_000388.4(CASR):c.1608+9T>A rs1407921987
NM_000388.4(CASR):c.1609-10T>G rs1576875662
NM_000388.4(CASR):c.1609-11C>G
NM_000388.4(CASR):c.1609-13G>A rs1274123257
NM_000388.4(CASR):c.1609-27C>G
NM_000388.4(CASR):c.1609-4C>T rs200534176
NM_000388.4(CASR):c.1609-5T>C
NM_000388.4(CASR):c.1609-6del
NM_000388.4(CASR):c.1609-7C>T
NM_000388.4(CASR):c.1611G>C (p.Val537=) rs1576875688
NM_000388.4(CASR):c.1620C>T (p.Ser540=) rs1576875710
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1626C>T (p.Cys542=) rs1576875732
NM_000388.4(CASR):c.1639C>T (p.Leu547=)
NM_000388.4(CASR):c.1641G>A (p.Leu547=)
NM_000388.4(CASR):c.1647G>T (p.Gly549=) rs1553768722
NM_000388.4(CASR):c.1653G>A (p.Arg551=) rs1576875790
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1671G>A (p.Gly557=)
NM_000388.4(CASR):c.1677C>T (p.Pro559=)
NM_000388.4(CASR):c.1683C>T (p.Cys561=) rs2107648334
NM_000388.4(CASR):c.1698G>A (p.Val566=) rs2074899115
NM_000388.4(CASR):c.1701G>A (p.Glu567=)
NM_000388.4(CASR):c.1704T>C (p.Cys568=) rs2107648376
NM_000388.4(CASR):c.1713G>A (p.Gly571=) rs200878919
NM_000388.4(CASR):c.1716G>A (p.Glu572=) rs946945741
NM_000388.4(CASR):c.1732+10C>T rs201859314
NM_000388.4(CASR):c.1732+12C>A
NM_000388.4(CASR):c.1732+12C>T rs1336922681
NM_000388.4(CASR):c.1732+13C>T
NM_000388.4(CASR):c.1732+15C>T
NM_000388.4(CASR):c.1732+15_1732+16delinsAC rs2107648439
NM_000388.4(CASR):c.1732+20G>T
NM_000388.4(CASR):c.1732+7G>A
NM_000388.4(CASR):c.1732+7G>C
NM_000388.4(CASR):c.1732+9A>G rs2074900202
NM_000388.4(CASR):c.1733-10C>T rs1559968171
NM_000388.4(CASR):c.1733-12G>A rs2107649328
NM_000388.4(CASR):c.1733-16C>T
NM_000388.4(CASR):c.1733-7T>A rs2074920505
NM_000388.4(CASR):c.1749C>T (p.Asn583=)
NM_000388.4(CASR):c.1758A>G (p.Pro586=)
NM_000388.4(CASR):c.1764C>T (p.Asp588=)
NM_000388.4(CASR):c.1767C>T (p.Phe589=) rs1465788605
NM_000388.4(CASR):c.1782C>T (p.Asn594=)
NM_000388.4(CASR):c.1800C>G (p.Ala600=)
NM_000388.4(CASR):c.1803G>A (p.Lys601=) rs2074922113
NM_000388.4(CASR):c.1809C>T (p.Ile603=) rs1332311514
NM_000388.4(CASR):c.1818G>A (p.Leu606=)
NM_000388.4(CASR):c.1848C>A (p.Leu616=) rs2107649505
NM_000388.4(CASR):c.185+10G>T rs201869423
NM_000388.4(CASR):c.185+11G>A
NM_000388.4(CASR):c.185+12G>A
NM_000388.4(CASR):c.185+13G>A
NM_000388.4(CASR):c.185+15C>A rs199849269
NM_000388.4(CASR):c.185+15C>G rs199849269
NM_000388.4(CASR):c.185+15C>T
NM_000388.4(CASR):c.185+17A>G rs2107625126
NM_000388.4(CASR):c.185+20C>T
NM_000388.4(CASR):c.185+7_185+9del rs1576852373
NM_000388.4(CASR):c.185+8G>T
NM_000388.4(CASR):c.185+9_185+10del rs2107625112
NM_000388.4(CASR):c.1851C>A (p.Thr617=) rs1553768940
NM_000388.4(CASR):c.1854C>T (p.Leu618=) rs1553768941
NM_000388.4(CASR):c.186-10T>C rs2107627405
NM_000388.4(CASR):c.186-15T>C
NM_000388.4(CASR):c.186-16T>G rs2107627398
NM_000388.4(CASR):c.186-17CTT[2] rs769243052
NM_000388.4(CASR):c.186-18A>G
NM_000388.4(CASR):c.186-4C>A
NM_000388.4(CASR):c.186-8T>C rs2107627408
NM_000388.4(CASR):c.1860C>G (p.Ala620=) rs141522130
NM_000388.4(CASR):c.1864C>T (p.Leu622=)
NM_000388.4(CASR):c.1878G>A (p.Leu626=)
NM_000388.4(CASR):c.1884C>T (p.Ala628=)
NM_000388.4(CASR):c.1891C>T (p.Leu631=)
NM_000388.4(CASR):c.1893G>A (p.Leu631=) rs2107649583
NM_000388.4(CASR):c.1908G>A (p.Lys636=)
NM_000388.4(CASR):c.1914C>A (p.Arg638=)
NM_000388.4(CASR):c.192T>C (p.Asn64=)
NM_000388.4(CASR):c.1932G>A (p.Lys644=)
NM_000388.4(CASR):c.1935C>T (p.Ala645=)
NM_000388.4(CASR):c.1941C>T (p.Asn647=)
NM_000388.4(CASR):c.1942C>A (p.Arg648=) rs104893705
NM_000388.4(CASR):c.1944A>C (p.Arg648=) rs2074925850
NM_000388.4(CASR):c.1962C>T (p.Leu654=) rs746231094
NM_000388.4(CASR):c.1965C>G (p.Leu655=) rs1339304346
NM_000388.4(CASR):c.1972C>T (p.Leu658=)
NM_000388.4(CASR):c.1974G>A (p.Leu658=)
NM_000388.4(CASR):c.1977C>G (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.1977C>T (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.1998G>C (p.Leu666=)
NM_000388.4(CASR):c.2004C>T (p.Phe668=) rs2107649757
NM_000388.4(CASR):c.2007C>T (p.Ile669=) rs967478601
NM_000388.4(CASR):c.2028G>C (p.Thr676=)
NM_000388.4(CASR):c.2049C>A (p.Ala683=)
NM_000388.4(CASR):c.2058C>T (p.Ile686=) rs2107649875
NM_000388.4(CASR):c.2076C>T (p.Ile692=) rs1553768999
NM_000388.4(CASR):c.2079A>C (p.Ser693=)
NM_000388.4(CASR):c.2097C>T (p.Thr699=) rs1576877434
NM_000388.4(CASR):c.2100C>T (p.Asn700=)
NM_000388.4(CASR):c.2109C>G (p.Leu703=)
NM_000388.4(CASR):c.2110C>T (p.Leu704=)
NM_000388.4(CASR):c.2118T>C (p.Phe706=)
NM_000388.4(CASR):c.2127G>A (p.Lys709=)
NM_000388.4(CASR):c.2130C>A (p.Ile710=)
NM_000388.4(CASR):c.2130C>T (p.Ile710=) rs2107649987
NM_000388.4(CASR):c.213A>G (p.Leu71=)
NM_000388.4(CASR):c.2148C>T (p.Arg716=) rs2107650027
NM_000388.4(CASR):c.2160G>A (p.Gly720=) rs1447996348
NM_000388.4(CASR):c.2163C>T (p.Leu721=) rs1427860271
NM_000388.4(CASR):c.2167C>T (p.Leu723=) rs2107650065
NM_000388.4(CASR):c.2179C>T (p.Leu727=) rs1177992998
NM_000388.4(CASR):c.2181G>A (p.Leu727=)
NM_000388.4(CASR):c.2184T>A (p.Val728=)
NM_000388.4(CASR):c.2187C>T (p.Phe729=)
NM_000388.4(CASR):c.2193C>T (p.Cys731=)
NM_000388.4(CASR):c.21C>T (p.Cys7=) rs1381043518
NM_000388.4(CASR):c.2211C>T (p.Val737=)
NM_000388.4(CASR):c.2229C>G (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2235C>G (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2235C>T (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2238G>A (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2238G>T (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2241C>G (p.Pro747=) rs1559968833
NM_000388.4(CASR):c.2244G>A (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2244G>T (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2247A>C (p.Ser749=)
NM_000388.4(CASR):c.2253C>T (p.Tyr751=)
NM_000388.4(CASR):c.2262G>A (p.Gln754=) rs1487359017
NM_000388.4(CASR):c.2265G>A (p.Glu755=) rs201366240
NM_000388.4(CASR):c.2268G>A (p.Leu756=) rs2107650239
NM_000388.4(CASR):c.2280C>A (p.Ile760=) rs1553769074
NM_000388.4(CASR):c.2292G>A (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>C (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>T (p.Thr764=)
NM_000388.4(CASR):c.2304C>G (p.Gly768=) rs1576877799
NM_000388.4(CASR):c.2322C>A (p.Gly774=)
NM_000388.4(CASR):c.2326C>T (p.Leu776=)
NM_000388.4(CASR):c.2337C>T (p.Tyr779=)
NM_000388.4(CASR):c.2343C>T (p.Cys781=) rs1553769084
NM_000388.4(CASR):c.2346G>C (p.Leu782=)
NM_000388.4(CASR):c.2347C>T (p.Leu783=)
NM_000388.4(CASR):c.2349G>A (p.Leu783=) rs2074937009
NM_000388.4(CASR):c.2358C>T (p.Ile786=) rs2107650380
NM_000388.4(CASR):c.2361C>T (p.Cys787=) rs1211380440
NM_000388.4(CASR):c.2373C>T (p.Ala791=) rs1553769095
NM_000388.4(CASR):c.2379G>A (p.Lys793=) rs2107650412
NM_000388.4(CASR):c.237G>A (p.Glu79=) rs2074562746
NM_000388.4(CASR):c.2382C>T (p.Ser794=)
NM_000388.4(CASR):c.2389C>T (p.Leu797=)
NM_000388.4(CASR):c.2394G>A (p.Pro798=) rs1353910174
NM_000388.4(CASR):c.2397G>A (p.Glu799=)
NM_000388.4(CASR):c.2406T>C (p.Asn802=)
NM_000388.4(CASR):c.2409A>G (p.Glu803=)
NM_000388.4(CASR):c.2415G>A (p.Lys805=) rs1467118491
NM_000388.4(CASR):c.2418C>T (p.Phe806=) rs2107650480
NM_000388.4(CASR):c.2421C>T (p.Ile807=) rs1559969145
NM_000388.4(CASR):c.2436C>G (p.Leu812=)
NM_000388.4(CASR):c.2439C>A (p.Ile813=)
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2448C>A (p.Ile816=) rs781343891
NM_000388.4(CASR):c.2451C>T (p.Val817=)
NM_000388.4(CASR):c.2460C>T (p.Ser820=)
NM_000388.4(CASR):c.2466T>C (p.Ile822=)
NM_000388.4(CASR):c.2472C>T (p.Ala824=) rs2107650582
NM_000388.4(CASR):c.2475T>C (p.Tyr825=)
NM_000388.4(CASR):c.2484C>A (p.Thr828=)
NM_000388.4(CASR):c.2487T>C (p.Tyr829=) rs2107650596
NM_000388.4(CASR):c.2490C>A (p.Gly830=)
NM_000388.4(CASR):c.2496T>C (p.Phe832=) rs2074939583
NM_000388.4(CASR):c.2505C>A (p.Ala835=)
NM_000388.4(CASR):c.2508A>G (p.Val836=)
NM_000388.4(CASR):c.2511G>A (p.Glu837=) rs2107650636
NM_000388.4(CASR):c.2526G>A (p.Leu842=) rs1457253066
NM_000388.4(CASR):c.2526G>T (p.Leu842=)
NM_000388.4(CASR):c.2535C>T (p.Ser845=)
NM_000388.4(CASR):c.2545C>T (p.Leu849=)
NM_000388.4(CASR):c.2556C>T (p.Ile852=) rs1172993116
NM_000388.4(CASR):c.2565C>T (p.Asn855=) rs760806852
NM_000388.4(CASR):c.2568G>A (p.Lys856=)
NM_000388.4(CASR):c.2583C>T (p.Leu861=) rs2107650764
NM_000388.4(CASR):c.2589G>A (p.Lys863=)
NM_000388.4(CASR):c.258C>A (p.Ala86=) rs1060504736
NM_000388.4(CASR):c.2592A>G (p.Pro864=)
NM_000388.4(CASR):c.2598C>T (p.Arg866=) rs2107650803
NM_000388.4(CASR):c.2604C>G (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2604C>T (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2625C>T (p.Ser875=) rs1313041878
NM_000388.4(CASR):c.2628C>A (p.Thr876=)
NM_000388.4(CASR):c.2628C>G (p.Thr876=)
NM_000388.4(CASR):c.2628C>T (p.Thr876=) rs758631679
NM_000388.4(CASR):c.2631A>C (p.Ala877=)
NM_000388.4(CASR):c.264T>C (p.Leu88=) rs2107627524
NM_000388.4(CASR):c.2652T>G (p.Ala884=)
NM_000388.4(CASR):c.2658G>A (p.Arg886=) rs2074942754
NM_000388.4(CASR):c.2658G>T (p.Arg886=)
NM_000388.4(CASR):c.2664G>A (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>C (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>T (p.Thr888=) rs751165754
NM_000388.4(CASR):c.267C>T (p.Pro89=) rs2107627535
NM_000388.4(CASR):c.2680G>C (p.Val894Leu) rs200883282
NM_000388.4(CASR):c.2688C>A (p.Arg896=) rs1037117955
NM_000388.4(CASR):c.2709A>G (p.Gly903=) rs1576878358
NM_000388.4(CASR):c.270C>T (p.Asn90=) rs201944670
NM_000388.4(CASR):c.2712C>T (p.Gly904=) rs1027208202
NM_000388.4(CASR):c.271T>C (p.Leu91=) rs200375728
NM_000388.4(CASR):c.2727C>G (p.Thr909=)
NM_000388.4(CASR):c.2730C>T (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2736C>T (p.Ser912=) rs764332910
NM_000388.4(CASR):c.2739C>A (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.2739C>T (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.273G>A (p.Leu91=)
NM_000388.4(CASR):c.2742C>T (p.Ile914=) rs539528196
NM_000388.4(CASR):c.2760C>T (p.Ser920=) rs749958063
NM_000388.4(CASR):c.2763A>G (p.Glu921=)
NM_000388.4(CASR):c.276G>T (p.Thr92=) rs201013419
NM_000388.4(CASR):c.2772C>T (p.Phe924=)
NM_000388.4(CASR):c.277C>T (p.Leu93=) rs201153680
NM_000388.4(CASR):c.2781C>G (p.Pro927=) rs771142444
NM_000388.4(CASR):c.2781C>T (p.Pro927=)
NM_000388.4(CASR):c.2805G>A (p.Pro935=) rs1358539214
NM_000388.4(CASR):c.2805G>C (p.Pro935=)
NM_000388.4(CASR):c.2814A>C (p.Leu938=) rs2107651263
NM_000388.4(CASR):c.2817C>T (p.Thr939=) rs1576878565
NM_000388.4(CASR):c.2826G>A (p.Glu942=) rs2107651299
NM_000388.4(CASR):c.282A>G (p.Gly94=)
NM_000388.4(CASR):c.282A>T (p.Gly94=)
NM_000388.4(CASR):c.2841C>G (p.Pro947=) rs1553769221
NM_000388.4(CASR):c.2844G>C (p.Leu948=) rs140586950
NM_000388.4(CASR):c.2853A>G (p.Pro951=)
NM_000388.4(CASR):c.2856G>A (p.Gln952=) rs2074947335
NM_000388.4(CASR):c.286A>C (p.Arg96=) rs2107627583
NM_000388.4(CASR):c.2874G>A (p.Gln958=) rs2074947758
NM_000388.4(CASR):c.288G>A (p.Arg96=) rs375151193
NM_000388.4(CASR):c.2895G>A (p.Lys965=) rs1251254766
NM_000388.4(CASR):c.2898C>T (p.Val966=) rs1576878768
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2901C>T (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2904T>C (p.Phe968=) rs769965955
NM_000388.4(CASR):c.2910C>T (p.Ser970=) rs200686461
NM_000388.4(CASR):c.2919C>A (p.Val973=)
NM_000388.4(CASR):c.2949G>A (p.Gln983=)
NM_000388.4(CASR):c.2952G>A (p.Lys984=) rs2107651573
NM_000388.4(CASR):c.2955_2956delinsTT (p.Ala986Ser) rs2107651579
NM_000388.4(CASR):c.2973T>C (p.Asn991=) rs1257108488
NM_000388.4(CASR):c.2976T>C (p.Ser992=) rs2107651635
NM_000388.4(CASR):c.2979G>A (p.Thr993=) rs917914806
NM_000388.4(CASR):c.2979G>C (p.Thr993=)
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) rs201052958
NM_000388.4(CASR):c.3000C>G (p.Ala1000=) rs2107651678
NM_000388.4(CASR):c.300T>G (p.Thr100=) rs2107627615
NM_000388.4(CASR):c.3018G>T (p.Thr1006=) rs748637478
NM_000388.4(CASR):c.3021G>T (p.Leu1007=)
NM_000388.4(CASR):c.3033G>A (p.Glu1011=)
NM_000388.4(CASR):c.3036A>G (p.Pro1012=)
NM_000388.4(CASR):c.303C>T (p.Cys101=) rs754033243
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.3042C>A (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>G (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>T (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3048G>A (p.Leu1016=)
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3063G>C (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3069A>G (p.Leu1023=)
NM_000388.4(CASR):c.306C>T (p.Asn102=)
NM_000388.4(CASR):c.3072T>C (p.Asp1024=)
NM_000388.4(CASR):c.3078C>A (p.Thr1026=) rs771319302
NM_000388.4(CASR):c.3090A>G (p.Thr1030=)
NM_000388.4(CASR):c.3093T>A (p.Gly1031=)
NM_000388.4(CASR):c.3093T>C (p.Gly1031=) rs1576879215
NM_000388.4(CASR):c.3096G>A (p.Leu1032=)
NM_000388.4(CASR):c.3096G>T (p.Leu1032=) rs2107651933
NM_000388.4(CASR):c.309C>G (p.Thr103=)
NM_000388.4(CASR):c.309C>T (p.Thr103=) rs373057548
NM_000388.4(CASR):c.3114A>G (p.Gly1038=) rs2107651950
NM_000388.4(CASR):c.3120G>A (p.Gln1040=)
NM_000388.4(CASR):c.3121C>A (p.Arg1041=) rs193921082
NM_000388.4(CASR):c.3135G>A (p.Glu1045=)
NM_000388.4(CASR):c.3138C>T (p.Asp1046=) rs878853977
NM_000388.4(CASR):c.3150G>A (p.Leu1050=)
NM_000388.4(CASR):c.3153C>T (p.Ser1051=) rs1576879292
NM_000388.4(CASR):c.315T>C (p.Ser105=) rs2107627628
NM_000388.4(CASR):c.3183C>T (p.Ser1061=)
NM_000388.4(CASR):c.318G>A (p.Lys106=)
NM_000388.4(CASR):c.3201A>G (p.Gly1067=) rs146918302
NM_000388.4(CASR):c.3204C>G (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3204C>T (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3216A>C (p.Thr1072=) rs1259584809
NM_000388.4(CASR):c.321C>T (p.Ala107=)
NM_000388.4(CASR):c.3222C>T (p.Asn1074=)
NM_000388.4(CASR):c.322T>C (p.Leu108=) rs1553766241
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3236A>G (p.Ter1079=) rs1060504735
NM_000388.4(CASR):c.33G>A (p.Leu11=) rs1302047092
NM_000388.4(CASR):c.345T>C (p.Val115=)
NM_000388.4(CASR):c.354C>T (p.Asn118=) rs104893695
NM_000388.4(CASR):c.363T>C (p.Asp121=)
NM_000388.4(CASR):c.381G>A (p.Glu127=) rs2074565277
NM_000388.4(CASR):c.396A>G (p.Ser132=) rs1060504737
NM_000388.4(CASR):c.402C>T (p.His134=)
NM_000388.4(CASR):c.408C>T (p.Pro136=)
NM_000388.4(CASR):c.411T>C (p.Ser137=)
NM_000388.4(CASR):c.414G>A (p.Thr138=) rs984531247
NM_000388.4(CASR):c.420T>C (p.Ala140=) rs2107627779
NM_000388.4(CASR):c.423G>A (p.Val141=) rs2074565871
NM_000388.4(CASR):c.426G>A (p.Val142=) rs201839033
NM_000388.4(CASR):c.426G>C (p.Val142=) rs201839033
NM_000388.4(CASR):c.42C>T (p.Thr14=) rs2107624779
NM_000388.4(CASR):c.441A>G (p.Ser147=) rs908914926
NM_000388.4(CASR):c.450C>T (p.Ser150=)
NM_000388.4(CASR):c.456A>G (p.Ala152=) rs201137966
NM_000388.4(CASR):c.459G>C (p.Val153=) rs2107627855
NM_000388.4(CASR):c.462A>T (p.Ala154=)
NM_000388.4(CASR):c.465T>C (p.Asn155=) rs2074566629
NM_000388.4(CASR):c.474G>C (p.Gly158=) rs892809123
NM_000388.4(CASR):c.474G>T (p.Gly158=) rs892809123
NM_000388.4(CASR):c.486T>C (p.Ile162=) rs776784152
NM_000388.4(CASR):c.489C>T (p.Pro163=)
NM_000388.4(CASR):c.492+10C>T rs906977634
NM_000388.4(CASR):c.492+13T>G rs148131335
NM_000388.4(CASR):c.492+18_492+19delinsCA rs2107627947
NM_000388.4(CASR):c.492+19_492+20delinsAA rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAG rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAT rs2107627953
NM_000388.4(CASR):c.492+8A>C
NM_000388.4(CASR):c.492+8A>G
NM_000388.4(CASR):c.493-10T>C
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.493-17T>G rs2107631652
NM_000388.4(CASR):c.493-4C>T rs2107631674
NM_000388.4(CASR):c.495C>T (p.Val165=)
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.507C>G (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.507C>T (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.513C>T (p.Ser171=)
NM_000388.4(CASR):c.519C>T (p.Leu173=)
NM_000388.4(CASR):c.522C>G (p.Leu174=) rs2107631739
NM_000388.4(CASR):c.528C>T (p.Asn176=) rs762352492
NM_000388.4(CASR):c.540C>T (p.Phe180=)
NM_000388.4(CASR):c.543G>A (p.Lys181=) rs2074622150
NM_000388.4(CASR):c.549C>T (p.Phe183=)
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.555A>T (p.Arg185=) rs1576858013
NM_000388.4(CASR):c.558C>A (p.Thr186=)
NM_000388.4(CASR):c.558C>T (p.Thr186=)
NM_000388.4(CASR):c.564C>A (p.Pro188=)
NM_000388.4(CASR):c.567T>C (p.Asn189=) rs2074622837
NM_000388.4(CASR):c.594A>G (p.Ala198=) rs1369140529
NM_000388.4(CASR):c.597C>T (p.Asp199=)
NM_000388.4(CASR):c.603C>T (p.Ile201=) rs770651757
NM_000388.4(CASR):c.621C>T (p.Asn207=) rs2107631955
NM_000388.4(CASR):c.630C>G (p.Gly210=) rs1340558108
NM_000388.4(CASR):c.633A>G (p.Thr211=) rs2107631986
NM_000388.4(CASR):c.636T>C (p.Ile212=) rs1226146501
NM_000388.4(CASR):c.63G>A (p.Gly21=) rs966820424
NM_000388.4(CASR):c.63G>C (p.Gly21=) rs966820424
NM_000388.4(CASR):c.648C>T (p.Asp216=) rs774470582
NM_000388.4(CASR):c.654T>C (p.Tyr218=) rs1576858172
NM_000388.4(CASR):c.658C>A (p.Arg220=)
NM_000388.4(CASR):c.660G>T (p.Arg220=)
NM_000388.4(CASR):c.666G>A (p.Gly222=) rs2107632070
NM_000388.4(CASR):c.66A>G (p.Pro22=) rs2107624825
NM_000388.4(CASR):c.684G>A (p.Glu228=) rs1173197457
NM_000388.4(CASR):c.699G>A (p.Arg233=)
NM_000388.4(CASR):c.711C>T (p.Ile237=)
NM_000388.4(CASR):c.714C>T (p.Asp238=)
NM_000388.4(CASR):c.717C>T (p.Phe239=) rs2107632147
NM_000388.4(CASR):c.720T>C (p.Ser240=)
NM_000388.4(CASR):c.726C>T (p.Leu242=) rs1433483919
NM_000388.4(CASR):c.729C>T (p.Ile243=) rs2107632173
NM_000388.4(CASR):c.756C>A (p.Ile252=) rs201948422
NM_000388.4(CASR):c.75A>C (p.Arg25=) rs199869938
NM_000388.4(CASR):c.765G>A (p.Val255=) rs2107632240
NM_000388.4(CASR):c.776T>C (p.Ile259Thr) rs1200068518
NM_000388.4(CASR):c.783T>C (p.Asn261=) rs1576858386
NM_000388.4(CASR):c.789G>A (p.Thr263=) rs369124816
NM_000388.4(CASR):c.78C>A (p.Ala26=)
NM_000388.4(CASR):c.78C>T (p.Ala26=) rs77852524
NM_000388.4(CASR):c.795A>G (p.Lys265=) rs2107632283
NM_000388.4(CASR):c.801C>A (p.Ile267=) rs148721982
NM_000388.4(CASR):c.801C>T (p.Ile267=) rs148721982
NM_000388.4(CASR):c.819C>T (p.Gly273=) rs2107632323
NM_000388.4(CASR):c.81A>G (p.Gln27=)
NM_000388.4(CASR):c.831G>A (p.Glu277=) rs2107632344
NM_000388.4(CASR):c.834C>T (p.Pro278=)
NM_000388.4(CASR):c.840C>T (p.Ile280=) rs201366476
NM_000388.4(CASR):c.846G>A (p.Glu282=)
NM_000388.4(CASR):c.849T>C (p.Ile283=) rs1576858514
NM_000388.4(CASR):c.855G>A (p.Arg285=) rs1250270901
NM_000388.4(CASR):c.855G>T (p.Arg285=)
NM_000388.4(CASR):c.858C>T (p.Arg286=) rs2107632406
NM_000388.4(CASR):c.864C>T (p.Ile288=) rs1553766801
NM_000388.4(CASR):c.867G>T (p.Thr289=)
NM_000388.4(CASR):c.870C>T (p.Gly290=) rs1576858604
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000388.4(CASR):c.87G>A (p.Lys29=) rs868678822
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000388.4(CASR):c.894C>G (p.Ala298=)
NM_000388.4(CASR):c.900C>G (p.Ala300=) rs2107632507
NM_000388.4(CASR):c.903C>T (p.Ser301=) rs2107632513
NM_000388.4(CASR):c.906C>A (p.Ser302=)
NM_000388.4(CASR):c.90G>A (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.90G>T (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.910C>T (p.Leu304=)
NM_000388.4(CASR):c.915C>T (p.Ile305=) rs200528343
NM_000388.4(CASR):c.936C>T (p.His312=)
NM_000388.4(CASR):c.942T>C (p.Val314=) rs2107632581
NM_000388.4(CASR):c.945C>A (p.Gly315=)
NM_000388.4(CASR):c.948C>T (p.Gly316=) rs2107632595
NM_000388.4(CASR):c.951C>T (p.Thr317=)
NM_000388.4(CASR):c.957A>C (p.Gly319=)
NM_000388.4(CASR):c.964C>T (p.Leu322=) rs2107632631
NM_000388.4(CASR):c.969G>A (p.Lys323=) rs1559959462
NM_000388.4(CASR):c.975G>A (p.Gly325=)
NM_000388.4(CASR):c.978G>A (p.Gln326=) rs916694180
NM_000388.4(CASR):c.987C>T (p.Gly329=) rs1576858879
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398

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