ClinVar Miner

List of variants in gene MTR studied for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 915
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) rs146071220 0.00203
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) rs142250261 0.00091
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) rs144991102 0.00048
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000254.3(MTR):c.1953+6G>C rs147410975 0.00034
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) rs201901663 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) rs142774813 0.00025
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) rs374409316 0.00022
NM_000254.3(MTR):c.1215G>A (p.Gln405=) rs376048659 0.00021
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) rs148897041 0.00020
NM_000254.3(MTR):c.639T>C (p.Phe213=) rs568734591 0.00020
NM_000254.3(MTR):c.1075+7C>T rs202157685 0.00019
NM_000254.3(MTR):c.3252C>T (p.Asp1084=) rs144429636 0.00016
NM_000254.3(MTR):c.3405+18C>T rs374485228 0.00016
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) rs140956566 0.00014
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) rs557853306 0.00014
NM_000254.3(MTR):c.2474-19_2474-15del rs781239294 0.00014
NM_000254.3(MTR):c.2043+10A>G rs375005444 0.00013
NM_000254.3(MTR):c.2405+13C>T rs761948163 0.00013
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) rs111465715 0.00013
NM_000254.3(MTR):c.35-19A>G rs372886393 0.00013
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) rs140183705 0.00011
NM_000254.3(MTR):c.2658G>A (p.Ala886=) rs142537384 0.00011
NM_000254.3(MTR):c.3204+9G>A rs769109539 0.00011
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) rs760845484 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000254.3(MTR):c.2013C>T (p.Val671=) rs147141232 0.00009
NM_000254.3(MTR):c.2686C>T (p.Leu896=) rs147762307 0.00009
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) rs121913578 0.00009
NM_000254.3(MTR):c.355A>G (p.Met119Val) rs538707626 0.00009
NM_000254.3(MTR):c.2196+19G>T rs372533462 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000254.3(MTR):c.2474-3T>A rs771491872 0.00007
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=) rs777595935 0.00007
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_000254.3(MTR):c.558C>T (p.Gly186=) rs139019399 0.00007
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) rs368619885 0.00006
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) rs146931200 0.00006
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) rs769801712 0.00006
NM_000254.3(MTR):c.502+13C>T rs201647375 0.00006
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) rs376681897 0.00006
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) rs766371534 0.00006
NM_000254.3(MTR):c.996-20T>C rs772967310 0.00006
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) rs147670189 0.00005
NM_000254.3(MTR):c.2235C>T (p.Gly745=) rs1453742538 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000254.3(MTR):c.3384G>A (p.Ala1128=) rs767454577 0.00005
NM_000254.3(MTR):c.759A>C (p.Pro253=) rs752365220 0.00005
NM_000254.3(MTR):c.764+6T>C rs377357761 0.00005
NM_000254.3(MTR):c.1086C>G (p.Pro362=) rs779393795 0.00004
NM_000254.3(MTR):c.1128G>A (p.Glu376=) rs759636736 0.00004
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) rs200479834 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) rs144374509 0.00004
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) rs750824195 0.00004
NM_000254.3(MTR):c.2326G>A (p.Val776Met) rs542575330 0.00004
NM_000254.3(MTR):c.2328G>T (p.Val776=) rs980038551 0.00004
NM_000254.3(MTR):c.2474-20T>A rs377347275 0.00004
NM_000254.3(MTR):c.250-1G>C rs145939391 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_000254.3(MTR):c.2718T>C (p.Phe906=) rs371962565 0.00004
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) rs201015844 0.00004
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) rs556429682 0.00004
NM_000254.3(MTR):c.356T>C (p.Met119Thr) rs151161326 0.00004
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) rs546918671 0.00004
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) rs780526997 0.00004
NM_000254.3(MTR):c.996-5C>T rs914525473 0.00004
NM_000254.3(MTR):c.1275A>G (p.Pro425=) rs202147344 0.00003
NM_000254.3(MTR):c.1943G>A (p.Arg648His) rs751565093 0.00003
NM_000254.3(MTR):c.2043+18G>C rs763911562 0.00003
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) rs201755946 0.00003
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) rs138695265 0.00003
NM_000254.3(MTR):c.2473+14A>G rs193210789 0.00003
NM_000254.3(MTR):c.2474-19_2474-18insA rs777429098 0.00003
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) rs146569329 0.00003
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) rs536238004 0.00003
NM_000254.3(MTR):c.3135C>T (p.His1045=) rs775738419 0.00003
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) rs780045701 0.00003
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) rs767100856 0.00003
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) rs1286773616 0.00002
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) rs138876566 0.00002
NM_000254.3(MTR):c.1395G>A (p.Gly465=) rs372015549 0.00002
NM_000254.3(MTR):c.1434G>A (p.Glu478=) rs747176647 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) rs1479249107 0.00002
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) rs775827591 0.00002
NM_000254.3(MTR):c.1953+7A>G rs777871271 0.00002
NM_000254.3(MTR):c.2109A>G (p.Arg703=) rs565935347 0.00002
NM_000254.3(MTR):c.259C>T (p.Leu87=) rs751808381 0.00002
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_000254.3(MTR):c.2775+17G>T rs763995449 0.00002
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) rs774910076 0.00002
NM_000254.3(MTR):c.2852-3T>C rs986257997 0.00002
NM_000254.3(MTR):c.2910G>A (p.Val970=) rs769690083 0.00002
NM_000254.3(MTR):c.339+19C>T rs199843808 0.00002
NM_000254.3(MTR):c.3598+15G>A rs754129736 0.00002
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) rs755894287 0.00002
NM_000254.3(MTR):c.486G>A (p.Pro162=) rs747494979 0.00002
NM_000254.3(MTR):c.711C>T (p.Ser237=) rs775774568 0.00002
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) rs368380397 0.00002
NM_000254.3(MTR):c.899C>T (p.Thr300Met) rs201871910 0.00002
NM_000254.3(MTR):c.1071G>A (p.Leu357=) rs771474135 0.00001
NM_000254.3(MTR):c.1074T>C (p.Ser358=) rs1430063160 0.00001
NM_000254.3(MTR):c.1076-16T>C rs1363188046 0.00001
NM_000254.3(MTR):c.108G>A (p.Gly36=) rs1057523951 0.00001
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) rs121913582 0.00001
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) rs757720946 0.00001
NM_000254.3(MTR):c.1311C>T (p.Ser437=) rs777192214 0.00001
NM_000254.3(MTR):c.1329+15A>G rs752303010 0.00001
NM_000254.3(MTR):c.1425G>A (p.Lys475=) rs1464958347 0.00001
NM_000254.3(MTR):c.1483A>G (p.Met495Val) rs775291294 0.00001
NM_000254.3(MTR):c.1566G>C (p.Leu522=) rs779536088 0.00001
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) rs1663831931 0.00001
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) rs151031178 0.00001
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) rs767156705 0.00001
NM_000254.3(MTR):c.1695+15G>A rs750838511 0.00001
NM_000254.3(MTR):c.1743C>T (p.Ser581=) rs758784869 0.00001
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) rs121913580 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.1954-6A>G rs1553321372 0.00001
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) rs150058137 0.00001
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) rs759130222 0.00001
NM_000254.3(MTR):c.2101del (p.Tyr701fs) rs762727293 0.00001
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) rs931972359 0.00001
NM_000254.3(MTR):c.2304+4A>G rs778478523 0.00001
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) rs758778075 0.00001
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) rs147387989 0.00001
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) rs745749921 0.00001
NM_000254.3(MTR):c.2446C>T (p.Leu816=) rs1458770538 0.00001
NM_000254.3(MTR):c.2454T>C (p.Ala818=) rs769066955 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000254.3(MTR):c.2594+3A>G rs757969059 0.00001
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) rs149165917 0.00001
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) rs989945025 0.00001
NM_000254.3(MTR):c.2775+19T>C rs1416410897 0.00001
NM_000254.3(MTR):c.2776-16C>T rs770223976 0.00001
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) rs1416094227 0.00001
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) rs773190246 0.00001
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) rs772400119 0.00001
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) rs755595867 0.00001
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) rs1474412109 0.00001
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) rs756706737 0.00001
NM_000254.3(MTR):c.3205-196A>G rs544410324 0.00001
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) rs746836137 0.00001
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) rs764803333 0.00001
NM_000254.3(MTR):c.3315T>C (p.Phe1105=) rs1221565565 0.00001
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) rs759436870 0.00001
NM_000254.3(MTR):c.340-166A>G rs1661117141 0.00001
NM_000254.3(MTR):c.340-3T>C rs772591750 0.00001
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) rs781725496 0.00001
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) rs201718371 0.00001
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) rs1188027807 0.00001
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) rs369154176 0.00001
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) rs1414249194 0.00001
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) rs761657622 0.00001
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) rs750050502 0.00001
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) rs779312137 0.00001
NM_000254.3(MTR):c.385G>C (p.Ala129Pro) rs1190777785 0.00001
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) rs757429726 0.00001
NM_000254.3(MTR):c.444G>A (p.Pro148=) rs778868012 0.00001
NM_000254.3(MTR):c.586A>G (p.Ile196Val) rs776426879 0.00001
NM_000254.3(MTR):c.669+11A>C rs773271317 0.00001
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) rs934470002 0.00001
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) rs758776466 0.00001
MTR, IVS6AS, G-A, LYS203
NC_000001.10:g.(?_236959004)_(237060944_?)dup
NC_000001.10:g.(?_237054413)_(237057877_?)del
NC_000001.10:g.(?_237060286)_(237060944_?)dup
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) rs1322031909
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
NM_000254.3(MTR):c.1075+12A>C
NM_000254.3(MTR):c.1075+14A>T
NM_000254.3(MTR):c.1076-11C>G rs186367553
NM_000254.3(MTR):c.1076-19A>T
NM_000254.3(MTR):c.1076-20A>T
NM_000254.3(MTR):c.1076-9C>T
NM_000254.3(MTR):c.1077T>G (p.Gly359=) rs745469748
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
NM_000254.3(MTR):c.1101G>A (p.Pro367=) rs763018049
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) rs1662641467
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
NM_000254.3(MTR):c.1188+19C>T
NM_000254.3(MTR):c.1188+1G>A rs2103130072
NM_000254.3(MTR):c.1188+7A>G
NM_000254.3(MTR):c.1189-11T>C rs2103148397
NM_000254.3(MTR):c.1189-14C>G
NM_000254.3(MTR):c.1189-18C>T
NM_000254.3(MTR):c.1189-20C>T
NM_000254.3(MTR):c.1189-7C>T
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
NM_000254.3(MTR):c.1200dup (p.Val401fs)
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) rs2103148829
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
NM_000254.3(MTR):c.1266A>G (p.Leu422=) rs984927112
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
NM_000254.3(MTR):c.126G>A (p.Gln42=)
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) rs2103149012
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) rs143088011
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) rs1660806761
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) rs770004849
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
NM_000254.3(MTR):c.1329+14T>C
NM_000254.3(MTR):c.1329+15_1329+16del
NM_000254.3(MTR):c.1329+16T>C
NM_000254.3(MTR):c.1329+16del
NM_000254.3(MTR):c.1329+19T>G
NM_000254.3(MTR):c.1329+9A>G
NM_000254.3(MTR):c.1330-10C>T
NM_000254.3(MTR):c.1330-12T>C
NM_000254.3(MTR):c.1330-2A>T
NM_000254.3(MTR):c.1330-5C>A
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
NM_000254.3(MTR):c.135G>A (p.Lys45=) rs747724978
NM_000254.3(MTR):c.1362T>G (p.Ala454=) rs376684560
NM_000254.3(MTR):c.136C>T (p.Leu46=)
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) rs2103166386
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
NM_000254.3(MTR):c.141C>T (p.Asn47=)
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
NM_000254.3(MTR):c.1488G>C (p.Val496=)
NM_000254.3(MTR):c.1491C>T (p.Val497=)
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
NM_000254.3(MTR):c.1512del (p.Gln505fs)
NM_000254.3(MTR):c.1515+14T>G
NM_000254.3(MTR):c.1515+16T>C
NM_000254.3(MTR):c.1515+17G>A
NM_000254.3(MTR):c.1515+2T>C
NM_000254.3(MTR):c.1516-11C>G
NM_000254.3(MTR):c.1516-11C>T
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.1516-5C>T
NM_000254.3(MTR):c.1516-6C>G
NM_000254.3(MTR):c.1516-6C>T
NM_000254.3(MTR):c.1516-7T>G
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) rs1572261571
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) rs1663828645
NM_000254.3(MTR):c.1545G>A (p.Val515=)
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
NM_000254.3(MTR):c.1575A>G (p.Lys525=) rs199700767
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
NM_000254.3(MTR):c.1647A>G (p.Glu549=) rs1171736020
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
NM_000254.3(MTR):c.1689C>A (p.Val563=)
NM_000254.3(MTR):c.1689C>T (p.Val563=)
NM_000254.3(MTR):c.1695+10G>A
NM_000254.3(MTR):c.1695+11G>A
NM_000254.3(MTR):c.1695+13A>G
NM_000254.3(MTR):c.1695+13A>T
NM_000254.3(MTR):c.1695+14T>C
NM_000254.3(MTR):c.1695+17T>G
NM_000254.3(MTR):c.1695+18C>T
NM_000254.3(MTR):c.1695+20C>T
NM_000254.3(MTR):c.1695+6T>C
NM_000254.3(MTR):c.1695+7G>A
NM_000254.3(MTR):c.1695+7G>T rs183273480
NM_000254.3(MTR):c.1696-14A>G
NM_000254.3(MTR):c.1696-18T>C rs2103252601
NM_000254.3(MTR):c.1696-19A>G
NM_000254.3(MTR):c.1696-4C>T
NM_000254.3(MTR):c.1696-5G>A
NM_000254.3(MTR):c.1696-5G>T
NM_000254.3(MTR):c.1696-6T>C
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
NM_000254.3(MTR):c.174T>C (p.Asp58=) rs2103013970
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
NM_000254.3(MTR):c.177T>C (p.His59=)
NM_000254.3(MTR):c.1803T>C (p.His601=)
NM_000254.3(MTR):c.1812+10A>G
NM_000254.3(MTR):c.1812+12G>T
NM_000254.3(MTR):c.1812+15C>T
NM_000254.3(MTR):c.1812+16T>A
NM_000254.3(MTR):c.1812+17C>T
NM_000254.3(MTR):c.1812_1812+1insATAC
NM_000254.3(MTR):c.1813-11A>G rs1289723374
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
NM_000254.3(MTR):c.186G>A (p.Pro62=)
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
NM_000254.3(MTR):c.192A>G (p.Lys64=)
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
NM_000254.3(MTR):c.1953+11A>C
NM_000254.3(MTR):c.1953+12A>G
NM_000254.3(MTR):c.1953+13G>A
NM_000254.3(MTR):c.1953+15G>T
NM_000254.3(MTR):c.1953+18C>T
NM_000254.3(MTR):c.1953+19T>A
NM_000254.3(MTR):c.1953+20A>G
NM_000254.3(MTR):c.1953+3A>G rs781246271
NM_000254.3(MTR):c.1953+9A>C
NM_000254.3(MTR):c.1954-11T>A
NM_000254.3(MTR):c.1954-12A>C rs192346180
NM_000254.3(MTR):c.1954-12A>G
NM_000254.3(MTR):c.1954-19G>C rs2103290480
NM_000254.3(MTR):c.1954-4T>C
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) rs1664416870
NM_000254.3(MTR):c.1986G>T (p.Gln662His) rs1664418343
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000254.3(MTR):c.2013C>A (p.Val671=)
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) rs150058137
NM_000254.3(MTR):c.2021G>A (p.Arg674His) rs774231870
NM_000254.3(MTR):c.2022C>T (p.Arg674=) rs2103291244
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
NM_000254.3(MTR):c.2043+15C>T
NM_000254.3(MTR):c.2043+8A>G
NM_000254.3(MTR):c.2043+9C>T rs2103291466
NM_000254.3(MTR):c.2044-11_2044-9del rs542174711
NM_000254.3(MTR):c.2044-11dup
NM_000254.3(MTR):c.2044-12T>C
NM_000254.3(MTR):c.2044-17T>C
NM_000254.3(MTR):c.2044-19T>C
NM_000254.3(MTR):c.2044-1G>A
NM_000254.3(MTR):c.2044-1G>T
NM_000254.3(MTR):c.2044-20T>C
NM_000254.3(MTR):c.2044-4T>C
NM_000254.3(MTR):c.2044-7T>G
NM_000254.3(MTR):c.2044-8T>C rs1664517879
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) rs797044444
NM_000254.3(MTR):c.2118T>C (p.Asn706=) rs1664526437
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
NM_000254.3(MTR):c.2139del (p.Met713fs)
NM_000254.3(MTR):c.213T>C (p.Ser71=)
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
NM_000254.3(MTR):c.2196+12A>C rs1664530187
NM_000254.3(MTR):c.2196+13T>C
NM_000254.3(MTR):c.2196+15G>A
NM_000254.3(MTR):c.2196+17G>A
NM_000254.3(MTR):c.2196+17G>C
NM_000254.3(MTR):c.2196+19G>A rs372533462
NM_000254.3(MTR):c.2196+5G>A rs2103301889
NM_000254.3(MTR):c.2197-18C>A
NM_000254.3(MTR):c.2197-18C>G
NM_000254.3(MTR):c.2197-5C>G
NM_000254.3(MTR):c.2197-6T>C rs1328542941
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000254.3(MTR):c.225T>G (p.Pro75=)
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
NM_000254.3(MTR):c.2282T>A (p.Leu761His) rs1664590593
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
NM_000254.3(MTR):c.2304+16C>A
NM_000254.3(MTR):c.2304+16C>T
NM_000254.3(MTR):c.2304+3A>C rs1572283994
NM_000254.3(MTR):c.2305-11T>C
NM_000254.3(MTR):c.2305-11T>G
NM_000254.3(MTR):c.2305-14G>T
NM_000254.3(MTR):c.2305-1G>T rs1664661222
NM_000254.3(MTR):c.2305-2A>G
NM_000254.3(MTR):c.2305-4C>T
NM_000254.3(MTR):c.2305-5T>C
NM_000254.3(MTR):c.2305-9C>T
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) rs968363996
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) rs2103313543
NM_000254.3(MTR):c.2346C>T (p.Gly782=) rs777213189
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
NM_000254.3(MTR):c.2355C>T (p.His785=)
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
NM_000254.3(MTR):c.2385C>A (p.Val795=)
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
NM_000254.3(MTR):c.2405+18del
NM_000254.3(MTR):c.2405+1G>A rs1664669480
NM_000254.3(MTR):c.2405+20C>G
NM_000254.3(MTR):c.2405+20C>T
NM_000254.3(MTR):c.2405+8A>G rs886046221
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) rs760932771
NM_000254.3(MTR):c.2406-10T>C
NM_000254.3(MTR):c.2406-18C>G
NM_000254.3(MTR):c.2406-18C>T
NM_000254.3(MTR):c.2406-1G>A
NM_000254.3(MTR):c.2406-2A>T
NM_000254.3(MTR):c.2406-8T>G
NM_000254.3(MTR):c.2406-9G>C
NM_000254.3(MTR):c.240A>G (p.Gln80=)
NM_000254.3(MTR):c.2424C>G (p.Val808=)
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
NM_000254.3(MTR):c.2472A>T (p.Ala824=) rs1665277178
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
NM_000254.3(MTR):c.2473+17C>T
NM_000254.3(MTR):c.2473+20T>A
NM_000254.3(MTR):c.2473+3A>G rs1665277406
NM_000254.3(MTR):c.2473+9C>A
NM_000254.3(MTR):c.2474-10A>T
NM_000254.3(MTR):c.2474-15A>T
NM_000254.3(MTR):c.2474-17_2474-16inv
NM_000254.3(MTR):c.2474-18T>C rs10925256
NM_000254.3(MTR):c.2474-18_2474-17insTA
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-19_2474-17del
NM_000254.3(MTR):c.2474-19_2474-18insAA
NM_000254.3(MTR):c.2474-19_2474-18inv
NM_000254.3(MTR):c.2474-20_2474-19insA rs1665333724
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2474-9A>C
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) rs1572309822
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
NM_000254.3(MTR):c.249+11C>T
NM_000254.3(MTR):c.249+15G>T
NM_000254.3(MTR):c.249+16del
NM_000254.3(MTR):c.249+19C>G
NM_000254.3(MTR):c.249+20C>G
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
NM_000254.3(MTR):c.250-10C>G
NM_000254.3(MTR):c.250-12C>G
NM_000254.3(MTR):c.250-15A>C
NM_000254.3(MTR):c.250-4dup
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) rs2147881808
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
NM_000254.3(MTR):c.2594+10A>G
NM_000254.3(MTR):c.2594+11C>T
NM_000254.3(MTR):c.2594+18G>A rs1558329619
NM_000254.3(MTR):c.2594+19C>G
NM_000254.3(MTR):c.2594+1_2594+36dup
NM_000254.3(MTR):c.2594+20_2594+28dup
NM_000254.3(MTR):c.2594+5G>A
NM_000254.3(MTR):c.2595-2A>G rs1558334603
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2595-8C>G
NM_000254.3(MTR):c.2595-8C>T
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
NM_000254.3(MTR):c.2601C>T (p.His867=)
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) rs1553326540
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) rs794727395
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
NM_000254.3(MTR):c.2676+11G>A
NM_000254.3(MTR):c.2676+14C>G
NM_000254.3(MTR):c.2676+17A>C
NM_000254.3(MTR):c.2676+17A>G
NM_000254.3(MTR):c.2676+19A>G
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2676+8G>T
NM_000254.3(MTR):c.2677-10dup
NM_000254.3(MTR):c.2677-13C>T
NM_000254.3(MTR):c.2677-15A>G
NM_000254.3(MTR):c.2677-5T>G
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
NM_000254.3(MTR):c.270A>G (p.Ala90=)
NM_000254.3(MTR):c.271G>C (p.Asp91His)
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) rs977928036
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
NM_000254.3(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.3(MTR):c.2760T>C (p.His920=)
NM_000254.3(MTR):c.2775+17G>A
NM_000254.3(MTR):c.2775+19T>G
NM_000254.3(MTR):c.2775+1G>T
NM_000254.3(MTR):c.2775+4A>G
NM_000254.3(MTR):c.2775+7G>A
NM_000254.3(MTR):c.2776-11T>G
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) rs1666006480
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
NM_000254.3(MTR):c.2802A>G (p.Gln934=) rs963291512
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
NM_000254.3(MTR):c.2851+13A>G
NM_000254.3(MTR):c.2851+2T>G rs2147922731
NM_000254.3(MTR):c.2851+8T>G
NM_000254.3(MTR):c.2852-11C>G
NM_000254.3(MTR):c.2852-13T>C
NM_000254.3(MTR):c.2852-15A>T
NM_000254.3(MTR):c.2852-17A>G
NM_000254.3(MTR):c.2852-18C>T
NM_000254.3(MTR):c.2852-4G>T
NM_000254.3(MTR):c.2852-7C>T rs1233643439
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) rs779579945
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
NM_000254.3(MTR):c.294T>C (p.Phe98=)
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
NM_000254.3(MTR):c.3007+15T>G
NM_000254.3(MTR):c.3007+1G>C
NM_000254.3(MTR):c.3007+20C>T
NM_000254.3(MTR):c.3007+7G>A
NM_000254.3(MTR):c.3008-13G>T
NM_000254.3(MTR):c.3008-15C>A
NM_000254.3(MTR):c.3008-19_3008-14del
NM_000254.3(MTR):c.3008-2A>G
NM_000254.3(MTR):c.3008-3T>C rs1286783552
NM_000254.3(MTR):c.3008-4A>G rs1224783275
NM_000254.3(MTR):c.3008-5A>G
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) rs1666296405
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) rs1400658126
NM_000254.3(MTR):c.3057A>G (p.Thr1019=) rs1394740700
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) rs2147939390
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) rs1572341910
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) rs1666303969
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
NM_000254.3(MTR):c.3204+11T>C
NM_000254.3(MTR):c.3204+14A>G
NM_000254.3(MTR):c.3204+20A>G
NM_000254.3(MTR):c.3205-12C>T
NM_000254.3(MTR):c.3205-13C>T
NM_000254.3(MTR):c.3205-15C>T
NM_000254.3(MTR):c.3205-16A>G
NM_000254.3(MTR):c.3205-18A>G
NM_000254.3(MTR):c.3205-7T>C
NM_000254.3(MTR):c.3205-8G>C
NM_000254.3(MTR):c.3205-9G>A rs1666501324
NM_000254.3(MTR):c.3205-9G>T
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) rs1666504883
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
NM_000254.3(MTR):c.327C>T (p.Gly109=)
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) rs1221565565
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) rs1666509852
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) rs1305962485
NM_000254.3(MTR):c.340-166A>C
NM_000254.3(MTR):c.340-20G>A
NM_000254.3(MTR):c.3405+17G>A
NM_000254.3(MTR):c.3405+19G>A
NM_000254.3(MTR):c.3405+21del
NM_000254.3(MTR):c.3405+6_3405+33dup
NM_000254.3(MTR):c.3406-12T>C
NM_000254.3(MTR):c.3406-2A>G
NM_000254.3(MTR):c.3406-4C>T
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
NM_000254.3(MTR):c.349A>C (p.Met117Leu) rs143180799
NM_000254.3(MTR):c.349A>G (p.Met117Val) rs143180799
NM_000254.3(MTR):c.35-12C>T
NM_000254.3(MTR):c.35-14del
NM_000254.3(MTR):c.35-20A>G
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) rs756440911
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) rs778432496
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
NM_000254.3(MTR):c.3552C>G (p.Thr1184=) rs760793648
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) rs2147955084
NM_000254.3(MTR):c.3598+13A>C
NM_000254.3(MTR):c.3598+18G>A
NM_000254.3(MTR):c.3598+19C>T
NM_000254.3(MTR):c.3598+20G>A
NM_000254.3(MTR):c.3599-14G>A
NM_000254.3(MTR):c.3599-14G>C
NM_000254.3(MTR):c.3599-17T>C
NM_000254.3(MTR):c.3599-4C>T
NM_000254.3(MTR):c.3599-5T>C
NM_000254.3(MTR):c.3599-6C>G rs2147960863
NM_000254.3(MTR):c.3599-8C>T
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
NM_000254.3(MTR):c.3600del (p.Ile1201fs) rs1346847201
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) rs777562650
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) rs2147961173
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
NM_000254.3(MTR):c.3711+10C>A
NM_000254.3(MTR):c.3711+10C>T
NM_000254.3(MTR):c.3711+15del
NM_000254.3(MTR):c.3711+20A>G
NM_000254.3(MTR):c.3711+22_3711+23del
NM_000254.3(MTR):c.3712-4G>A
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.3712-9C>A
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) rs2147965312
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
NM_000254.3(MTR):c.375C>T (p.Ala125=)
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
NM_000254.3(MTR):c.381del (p.Ala128fs)
NM_000254.3(MTR):c.387C>A (p.Ala129=)
NM_000254.3(MTR):c.387C>T (p.Ala129=) rs575706892
NM_000254.3(MTR):c.399T>C (p.Thr133=)
NM_000254.3(MTR):c.402C>T (p.Leu134=)
NM_000254.3(MTR):c.409+14T>G
NM_000254.3(MTR):c.409+15_409+17del rs750828089
NM_000254.3(MTR):c.409+17T>C
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.426G>C (p.Val142=)
NM_000254.3(MTR):c.447T>A (p.Thr149=)
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) rs2103039190
NM_000254.3(MTR):c.468C>T (p.Ser156=)
NM_000254.3(MTR):c.471A>G (p.Pro157=) rs931152176
NM_000254.3(MTR):c.471A>T (p.Pro157=)
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
NM_000254.3(MTR):c.502+14A>G
NM_000254.3(MTR):c.502+16A>C
NM_000254.3(MTR):c.502+21_502+24dup
NM_000254.3(MTR):c.503-14T>C
NM_000254.3(MTR):c.503-15A>T
NM_000254.3(MTR):c.503-2A>G
NM_000254.3(MTR):c.504A>C (p.Thr168=)
NM_000254.3(MTR):c.504A>G (p.Thr168=)
NM_000254.3(MTR):c.507T>C (p.Phe169=)
NM_000254.3(MTR):c.510T>C (p.Asp170=)
NM_000254.3(MTR):c.546A>G (p.Gly182=)
NM_000254.3(MTR):c.573dup (p.Leu192fs)
NM_000254.3(MTR):c.606C>T (p.Ala202=)
NM_000254.3(MTR):c.609+1088G>A rs752526782
NM_000254.3(MTR):c.609+14G>C
NM_000254.3(MTR):c.609+14G>T
NM_000254.3(MTR):c.609+16A>G
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.610-12T>C
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000254.3(MTR):c.610-1_613dup
NM_000254.3(MTR):c.610-6T>C rs769743026
NM_000254.3(MTR):c.610-6T>G
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
NM_000254.3(MTR):c.617del (p.Leu206fs)
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
NM_000254.3(MTR):c.627C>A (p.Leu209=)
NM_000254.3(MTR):c.630A>G (p.Gln210=)
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
NM_000254.3(MTR):c.660G>A (p.Arg220=)
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
NM_000254.3(MTR):c.669+12dup
NM_000254.3(MTR):c.670-11T>C
NM_000254.3(MTR):c.670-20T>C
NM_000254.3(MTR):c.670-20T>G
NM_000254.3(MTR):c.681G>A (p.Thr227=)
NM_000254.3(MTR):c.684C>A (p.Ile228=)
NM_000254.3(MTR):c.699G>A (p.Gly233=)
NM_000254.3(MTR):c.702G>A (p.Arg234=)
NM_000254.3(MTR):c.726G>A (p.Glu242=)
NM_000254.3(MTR):c.741C>T (p.Ser247=)
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.750T>C (p.His250=)
NM_000254.3(MTR):c.761T>A (p.Leu254His) rs2103062352
NM_000254.3(MTR):c.762C>T (p.Leu254=) rs1661602756
NM_000254.3(MTR):c.764+7G>A
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
NM_000254.3(MTR):c.765-12C>G
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.765-4C>T
NM_000254.3(MTR):c.765-5T>C
NM_000254.3(MTR):c.786G>A (p.Leu262=)
NM_000254.3(MTR):c.792A>G (p.Ala264=)
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) rs1039659576
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000254.3(MTR):c.834A>G (p.Thr278=)
NM_000254.3(MTR):c.865+10T>C
NM_000254.3(MTR):c.865+12A>G rs2103095649
NM_000254.3(MTR):c.865+18G>T
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.865+1GT[3] rs2103095576
NM_000254.3(MTR):c.865+7G>T
NM_000254.3(MTR):c.866-13T>G
NM_000254.3(MTR):c.866-16A>C
NM_000254.3(MTR):c.866-2A>C
NM_000254.3(MTR):c.866-6T>C
NM_000254.3(MTR):c.866-8T>C
NM_000254.3(MTR):c.873C>G (p.Pro291=)
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) rs2103101092
NM_000254.3(MTR):c.879C>T (p.Thr293=)
NM_000254.3(MTR):c.888C>T (p.Asp296=)
NM_000254.3(MTR):c.894T>C (p.Asp298=)
NM_000254.3(MTR):c.899dup (p.Pro301fs)
NM_000254.3(MTR):c.900G>A (p.Thr300=)
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) rs766371534
NM_000254.3(MTR):c.906T>C (p.Ser302=)
NM_000254.3(MTR):c.907A>G (p.Met303Val)
NM_000254.3(MTR):c.915C>T (p.Ala305=)
NM_000254.3(MTR):c.920dup (p.His307fs)
NM_000254.3(MTR):c.924A>G (p.Leu308=)
NM_000254.3(MTR):c.927+10C>A
NM_000254.3(MTR):c.927+11C>A
NM_000254.3(MTR):c.927+14dup
NM_000254.3(MTR):c.927+18C>G
NM_000254.3(MTR):c.927+1G>A
NM_000254.3(MTR):c.927+1G>C rs1572218599
NM_000254.3(MTR):c.927+20C>T
NM_000254.3(MTR):c.927+20del
NM_000254.3(MTR):c.927+7G>A
NM_000254.3(MTR):c.928-18G>A
NM_000254.3(MTR):c.928-19T>G
NM_000254.3(MTR):c.928-9T>A
NM_000254.3(MTR):c.963A>C (p.Gly321=)
NM_000254.3(MTR):c.975G>A (p.Gly325=)
NM_000254.3(MTR):c.981A>C (p.Thr327=)
NM_000254.3(MTR):c.984A>G (p.Pro328=)
NM_000254.3(MTR):c.987T>C (p.Asp329=)
NM_000254.3(MTR):c.995+14A>G
NM_000254.3(MTR):c.995+19C>T
NM_000254.3(MTR):c.996-12C>T
NM_000254.3(MTR):c.996-14C>T
NM_000254.3(MTR):c.99G>A (p.Leu33=)

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