ClinVar Miner

List of variants in gene CP studied for dementia

Included ClinVar conditions (250):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 484
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753 0.13148
NM_000096.4(CP):c.394+20C>T rs17847023 0.08668
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_000096.4(CP):c.394+19G>A rs188121726 0.00272
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.1945G>A (p.Ala649Thr) rs141466225 0.00186
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_000096.3(CP):c.-183T>C rs185578646 0.00099
NM_000096.4(CP):c.2878+14T>C rs75520320 0.00063
NM_000096.4(CP):c.249T>C (p.Thr83=) rs138512757 0.00058
NM_000096.4(CP):c.2878+7C>A rs371031293 0.00055
NM_000096.4(CP):c.1811C>A (p.Pro604His) rs188643164 0.00053
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000096.4(CP):c.2554+18G>A rs201627704 0.00046
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000096.4(CP):c.1501A>C (p.Ser501Arg) rs139756428 0.00037
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000096.4(CP):c.2554+14C>T rs200965170 0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000096.4(CP):c.981G>A (p.Val327=) rs144467178 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000096.4(CP):c.2518C>G (p.Gln840Glu) rs142139927 0.00025
NM_000096.4(CP):c.716A>T (p.Tyr239Phe) rs145481253 0.00024
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000096.4(CP):c.1487A>G (p.Asn496Ser) rs541708867 0.00021
NM_000096.4(CP):c.301A>G (p.Thr101Ala) rs148041351 0.00021
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_000096.4(CP):c.261G>A (p.Pro87=) rs142440055 0.00016
NM_000096.4(CP):c.457G>A (p.Glu153Lys) rs138646392 0.00016
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133 0.00015
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942 0.00015
NM_000096.4(CP):c.1458C>T (p.Asn486=) rs144537170 0.00014
NM_000096.3(CP):c.-165C>T rs536533840 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.1895C>T (p.Pro632Leu) rs200706325 0.00011
NM_000096.4(CP):c.2926G>A (p.Val976Met) rs192063766 0.00011
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000096.4(CP):c.782-3C>T rs375191868 0.00011
NM_000096.4(CP):c.1357A>G (p.Ile453Val) rs145762017 0.00010
NM_000096.4(CP):c.1927G>A (p.Val643Met) rs143775161 0.00010
NM_000096.4(CP):c.929G>A (p.Arg310His) rs202217551 0.00010
NM_000096.4(CP):c.2260G>A (p.Glu754Lys) rs377373314 0.00009
NM_000096.4(CP):c.3021C>G (p.His1007Gln) rs775322417 0.00009
NM_000096.4(CP):c.720C>T (p.Cys240=) rs141646117 0.00009
NM_000096.4(CP):c.1265A>G (p.Lys422Arg) rs200156117 0.00007
NM_000096.4(CP):c.2900G>C (p.Gly967Ala) rs370673560 0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000096.3(CP):c.-199C>G rs772691705 0.00006
NM_000096.4(CP):c.1548C>T (p.Thr516=) rs184516720 0.00006
NM_000096.4(CP):c.1714-20C>T rs367695920 0.00006
NM_000096.4(CP):c.2681T>C (p.Ile894Thr) rs148809294 0.00006
NM_000096.4(CP):c.2952G>A (p.Leu984=) rs752058749 0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) rs149217680 0.00006
NM_000096.4(CP):c.921G>T (p.Lys307Asn) rs543777038 0.00006
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000096.4(CP):c.1132G>A (p.Ala378Thr) rs141270807 0.00005
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys) rs373531113 0.00005
NM_000096.4(CP):c.1408G>T (p.Ala470Ser) rs781567080 0.00004
NM_000096.4(CP):c.1437G>A (p.Gly479=) rs200883005 0.00004
NM_000096.4(CP):c.1899T>C (p.Gly633=) rs147192657 0.00004
NM_000096.4(CP):c.1922C>T (p.Ser641Leu) rs758412535 0.00004
NM_000096.4(CP):c.2142T>C (p.Thr714=) rs61734460 0.00004
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000096.4(CP):c.2827G>A (p.Glu943Lys) rs571448440 0.00004
NM_000096.4(CP):c.623A>G (p.Glu208Gly) rs200933607 0.00004
NM_000096.4(CP):c.750C>T (p.Asn250=) rs753021289 0.00004
NM_000096.4(CP):c.1038C>T (p.Ala346=) rs146895584 0.00003
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127 0.00003
NM_000096.4(CP):c.1209-10C>T rs1553762033 0.00003
NM_000096.4(CP):c.1414C>A (p.Pro472Thr) rs749923683 0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000096.4(CP):c.1939T>A (p.Phe647Ile) rs755977561 0.00003
NM_000096.4(CP):c.1944C>T (p.Ser648=) rs376272235 0.00003
NM_000096.4(CP):c.260C>T (p.Pro87Leu) rs200823208 0.00003
NM_000096.4(CP):c.92C>T (p.Thr31Met) rs139978529 0.00003
NM_000096.4(CP):c.1422T>C (p.Ser474=) rs570042183 0.00002
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950 0.00002
NM_000096.4(CP):c.1907T>C (p.Met636Thr) rs776909143 0.00002
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His) rs201599525 0.00002
NM_000096.4(CP):c.2005G>C (p.Gly669Arg) rs555339346 0.00002
NM_000096.4(CP):c.2207T>A (p.Ile736Asn) rs746839444 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.236C>T (p.Thr79Ile) rs192728234 0.00002
NM_000096.4(CP):c.259C>T (p.Pro87Ser) rs749061188 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000096.4(CP):c.652G>A (p.Val218Met) rs768603982 0.00002
NM_000096.4(CP):c.863T>C (p.Met288Thr) rs747305045 0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=) rs373073229 0.00002
NM_000096.4(CP):c.1036+16C>T rs376410072 0.00001
NM_000096.4(CP):c.1036+8A>G rs369718195 0.00001
NM_000096.4(CP):c.1037-3C>A rs754289834 0.00001
NM_000096.4(CP):c.1039G>A (p.Gly347Ser) rs761317252 0.00001
NM_000096.4(CP):c.1098C>T (p.Ile366=) rs117829763 0.00001
NM_000096.4(CP):c.1188A>G (p.Glu396=) rs928128624 0.00001
NM_000096.4(CP):c.1209-2A>G rs386134137 0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090 0.00001
NM_000096.4(CP):c.1277G>A (p.Arg426His) rs181428197 0.00001
NM_000096.4(CP):c.1293C>T (p.Ala431=) rs758930665 0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637 0.00001
NM_000096.4(CP):c.1355T>C (p.Val452Ala) rs761433684 0.00001
NM_000096.4(CP):c.1379C>T (p.Thr460Ile) rs370863732 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.13A>G (p.Ile5Val) rs766078094 0.00001
NM_000096.4(CP):c.1405G>A (p.Gly469Arg) rs748447606 0.00001
NM_000096.4(CP):c.1426G>A (p.Glu476Lys) rs1197002943 0.00001
NM_000096.4(CP):c.1435G>A (p.Gly479Arg) rs773337495 0.00001
NM_000096.4(CP):c.146+7C>T rs1728813630 0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) rs1391447500 0.00001
NM_000096.4(CP):c.1546A>G (p.Thr516Ala) rs780668014 0.00001
NM_000096.4(CP):c.1682A>G (p.Lys561Arg) rs1428887668 0.00001
NM_000096.4(CP):c.1713+15G>A rs1400784376 0.00001
NM_000096.4(CP):c.1713+3A>G rs372361874 0.00001
NM_000096.4(CP):c.1818G>A (p.Gln606=) rs766556425 0.00001
NM_000096.4(CP):c.1819G>A (p.Val607Met) rs1158598597 0.00001
NM_000096.4(CP):c.1865-5T>A rs750574317 0.00001
NM_000096.4(CP):c.1868T>C (p.Met623Thr) rs1328458846 0.00001
NM_000096.4(CP):c.188T>C (p.Ile63Thr) rs759185877 0.00001
NM_000096.4(CP):c.1896G>A (p.Pro632=) rs764073986 0.00001
NM_000096.4(CP):c.1900C>A (p.Leu634Ile) rs200864206 0.00001
NM_000096.4(CP):c.1923G>A (p.Ser641=) rs745966582 0.00001
NM_000096.4(CP):c.1954G>A (p.Glu652Lys) rs141425435 0.00001
NM_000096.4(CP):c.1974A>C (p.Ile658=) rs751761820 0.00001
NM_000096.4(CP):c.2065C>T (p.Pro689Ser) rs200353789 0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087 0.00001
NM_000096.4(CP):c.2224G>C (p.Glu742Gln) rs527915587 0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516 0.00001
NM_000096.4(CP):c.22A>G (p.Ile8Val) rs770665382 0.00001
NM_000096.4(CP):c.2353C>T (p.Arg785Trp) rs775583038 0.00001
NM_000096.4(CP):c.2402A>G (p.Glu801Gly) rs984317340 0.00001
NM_000096.4(CP):c.2434C>A (p.Leu812Ile) rs770844193 0.00001
NM_000096.4(CP):c.2442A>G (p.Ala814=) rs762942794 0.00001
NM_000096.4(CP):c.2491C>T (p.Pro831Ser) rs779811076 0.00001
NM_000096.4(CP):c.2498C>G (p.Ser833Ter) rs369900671 0.00001
NM_000096.4(CP):c.2500A>G (p.Ile834Val) rs1377096899 0.00001
NM_000096.4(CP):c.2555-20T>C rs1725654318 0.00001
NM_000096.4(CP):c.2593T>C (p.Ser865Pro) rs758596793 0.00001
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2669A>G (p.Tyr890Cys) rs576931228 0.00001
NM_000096.4(CP):c.2677T>G (p.Leu893Val) rs769138783 0.00001
NM_000096.4(CP):c.2687C>T (p.Pro896Leu) rs1415343557 0.00001
NM_000096.4(CP):c.2689_2690del (p.Leu897fs) rs386134153 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.2816C>G (p.Ser939Cys) rs781046060 0.00001
NM_000096.4(CP):c.3101G>C (p.Gly1034Ala) rs1234930172 0.00001
NM_000096.4(CP):c.338C>T (p.Ala113Val) rs1378270514 0.00001
NM_000096.4(CP):c.395-1G>A rs386134135 0.00001
NM_000096.4(CP):c.416C>T (p.Thr139Ile) rs749950432 0.00001
NM_000096.4(CP):c.41G>A (p.Ser14Asn) rs892697970 0.00001
NM_000096.4(CP):c.462G>A (p.Gln154=) rs766925024 0.00001
NM_000096.4(CP):c.471C>T (p.Tyr157=) rs773374620 0.00001
NM_000096.4(CP):c.484A>T (p.Thr162Ser) rs1428783802 0.00001
NM_000096.4(CP):c.514G>C (p.Gly172Arg) rs768492670 0.00001
NM_000096.4(CP):c.528T>C (p.Thr176=) rs778533284 0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000096.4(CP):c.553G>A (p.Ala185Thr) rs960307294 0.00001
NM_000096.4(CP):c.566T>C (p.Ile189Thr) rs1263674373 0.00001
NM_000096.4(CP):c.56C>T (p.Ala19Val) rs532618448 0.00001
NM_000096.4(CP):c.607+15T>C rs1439440422 0.00001
NM_000096.4(CP):c.643C>T (p.Arg215Ter) rs386134155 0.00001
NM_000096.4(CP):c.656T>A (p.Val219Glu) rs587780321 0.00001
NM_000096.4(CP):c.704A>G (p.Asn235Ser) rs1336508383 0.00001
NM_000096.4(CP):c.791G>C (p.Gly264Ala) rs765086883 0.00001
NM_000096.4(CP):c.811C>T (p.Pro271Ser) rs774692355 0.00001
NM_000096.4(CP):c.901G>A (p.Gly301Arg) rs753356388 0.00001
NC_000003.11:g.(?_148939414)_(148939579_?)del
NC_000003.12:g.(?_149173694)_(149182153_?)del
NC_000003.12:g.(?_149206148)_(149206359_?)del
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs) rs386134138
NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1019A>G (p.Asn340Ser)
NM_000096.4(CP):c.1029T>C (p.His343=)
NM_000096.4(CP):c.1036+15C>T
NM_000096.4(CP):c.1037-16_1037-13del rs760010903
NM_000096.4(CP):c.1037-5T>C
NM_000096.4(CP):c.1056C>T (p.Phe352=)
NM_000096.4(CP):c.1079C>A (p.Ser360Tyr)
NM_000096.4(CP):c.1081T>C (p.Ser361Pro)
NM_000096.4(CP):c.1100G>A (p.Arg367His)
NM_000096.4(CP):c.1100G>T (p.Arg367Leu) rs199930098
NM_000096.4(CP):c.1106del (p.Lys369fs)
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1125C>T (p.Tyr375=)
NM_000096.4(CP):c.1149G>A (p.Trp383Ter) rs772867888
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
NM_000096.4(CP):c.1175T>A (p.Ile392Asn) rs1481132976
NM_000096.4(CP):c.117T>A (p.His39Gln)
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) rs1446212124
NM_000096.4(CP):c.119G>C (p.Gly40Ala) rs748730192
NM_000096.4(CP):c.1201C>T (p.Pro401Ser)
NM_000096.4(CP):c.1208+15A>C
NM_000096.4(CP):c.1208+18A>G
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1208+6T>A rs2108287218
NM_000096.4(CP):c.1208+6T>C rs2108287218
NM_000096.4(CP):c.1209-11del rs748250466
NM_000096.4(CP):c.1209-11dup rs748250466
NM_000096.4(CP):c.1218G>A (p.Ala406=)
NM_000096.4(CP):c.1254C>T (p.Gly418=)
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer) rs386134144
NM_000096.4(CP):c.1269G>A (p.Leu423=) rs2108278024
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs) rs386134145
NM_000096.4(CP):c.1302A>T (p.Thr434=)
NM_000096.4(CP):c.1306C>T (p.Arg436Ter)
NM_000096.4(CP):c.1312G>C (p.Glu438Gln) rs2108277804
NM_000096.4(CP):c.1313A>G (p.Glu438Gly) rs1553761979
NM_000096.4(CP):c.1317_1318del (p.Gly440fs) rs1727369694
NM_000096.4(CP):c.1320C>T (p.Gly440=)
NM_000096.4(CP):c.1324G>A (p.Glu442Lys)
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
NM_000096.4(CP):c.1337T>C (p.Leu446Pro) rs1727368255
NM_000096.4(CP):c.1348+2T>C
NM_000096.4(CP):c.1349-14C>T
NM_000096.4(CP):c.1401C>G (p.Asn467Lys)
NM_000096.4(CP):c.1409C>T (p.Ala470Val) rs1460879036
NM_000096.4(CP):c.141T>C (p.Val47=)
NM_000096.4(CP):c.1431G>A (p.Pro477=) rs763429281
NM_000096.4(CP):c.1448A>G (p.Asn483Ser) rs781513940
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.1467A>G (p.Thr489=)
NM_000096.4(CP):c.147-11T>G
NM_000096.4(CP):c.147-9T>A
NM_000096.4(CP):c.1492C>T (p.Gln498Ter)
NM_000096.4(CP):c.1501+18T>A rs2108271964
NM_000096.4(CP):c.1505_1506dup (p.Pro503fs) rs1553761391
NM_000096.4(CP):c.1526T>C (p.Val509Ala)
NM_000096.4(CP):c.1551T>C (p.Tyr517=)
NM_000096.4(CP):c.1613del (p.Met538fs) rs1576759850
NM_000096.4(CP):c.1648T>A (p.Phe550Ile)
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.1680C>T (p.Cys560=) rs1553761342
NM_000096.4(CP):c.1698T>C (p.His566=)
NM_000096.4(CP):c.1714-13_1714-9del rs2108244342
NM_000096.4(CP):c.1726A>G (p.Lys576Glu) rs938967361
NM_000096.4(CP):c.1731del (p.Glu577fs) rs2108244261
NM_000096.4(CP):c.1748C>T (p.Thr583Ile)
NM_000096.4(CP):c.1758T>C (p.Asp586=)
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.181G>T (p.Asp61Tyr)
NM_000096.4(CP):c.1826A>C (p.Lys609Thr) rs2108243871
NM_000096.4(CP):c.1837G>A (p.Asp613Asn) rs750202621
NM_000096.4(CP):c.1843C>T (p.Gln615Ter)
NM_000096.4(CP):c.1864+12A>G
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1864+5G>A rs768510247
NM_000096.4(CP):c.1865-12C>G
NM_000096.4(CP):c.1865-1G>A rs386134139
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.1874G>A (p.Gly625Glu) rs386134129
NM_000096.4(CP):c.18T>C (p.Leu6=)
NM_000096.4(CP):c.1908G>A (p.Met636Ile) rs2108240139
NM_000096.4(CP):c.1915G>A (p.Gly639Arg)
NM_000096.4(CP):c.1918del (p.Asp640fs) rs386134146
NM_000096.4(CP):c.1937T>C (p.Leu646Ser)
NM_000096.4(CP):c.1939T>C (p.Phe647Leu) rs755977561
NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)
NM_000096.4(CP):c.1959C>T (p.Ala653=)
NM_000096.4(CP):c.1960G>T (p.Asp654Tyr) rs755243937
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) rs1726190460
NM_000096.4(CP):c.1991C>T (p.Thr664Ile)
NM_000096.4(CP):c.1991_1992del (p.Thr664fs)
NM_000096.4(CP):c.1992A>G (p.Thr664=)
NM_000096.4(CP):c.1995T>C (p.Tyr665=) rs1351532741
NM_000096.4(CP):c.19G>C (p.Gly7Arg)
NM_000096.4(CP):c.1del (p.Met1*) rs750317184
NM_000096.4(CP):c.2011C>T (p.Arg671Trp)
NM_000096.4(CP):c.2012G>A (p.Arg671Gln)
NM_000096.4(CP):c.2027A>G (p.Asn676Ser) rs2108239351
NM_000096.4(CP):c.2046T>G (p.Ser682Arg) rs751013436
NM_000096.4(CP):c.2051C>T (p.Thr684Met)
NM_000096.4(CP):c.2052G>A (p.Thr684=)
NM_000096.4(CP):c.2056C>T (p.His686Tyr)
NM_000096.4(CP):c.2058C>T (p.His686=)
NM_000096.4(CP):c.2059A>G (p.Met687Val) rs1726183089
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2068del (p.Asp690fs) rs386134148
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.209C>T (p.Ala70Val) rs2108302390
NM_000096.4(CP):c.210C>T (p.Ala70=)
NM_000096.4(CP):c.2122G>A (p.Gly708Ser)
NM_000096.4(CP):c.2131C>A (p.Gln711Lys) rs386134130
NM_000096.4(CP):c.2133A>G (p.Gln711=)
NM_000096.4(CP):c.2139T>C (p.Tyr713=)
NM_000096.4(CP):c.2149C>T (p.Gln717Ter)
NM_000096.4(CP):c.2185del (p.Leu729fs) rs587777922
NM_000096.4(CP):c.2189G>T (p.Gly730Val) rs1726090334
NM_000096.4(CP):c.2190A>G (p.Gly730=)
NM_000096.4(CP):c.2202C>T (p.Tyr734=) rs2108235775
NM_000096.4(CP):c.2215G>C (p.Val739Leu)
NM_000096.4(CP):c.2227T>G (p.Trp743Gly)
NM_000096.4(CP):c.2242C>T (p.Gln748Ter)
NM_000096.4(CP):c.2253G>A (p.Trp751Ter) rs1559940237
NM_000096.4(CP):c.2260G>T (p.Glu754Ter)
NM_000096.4(CP):c.2263C>T (p.Leu755=) rs763571936
NM_000096.4(CP):c.2268T>C (p.His756=) rs765341479
NM_000096.4(CP):c.2285+2T>C
NM_000096.4(CP):c.2285+9C>G
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>A rs34861155
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15_2286-14del rs201677287
NM_000096.4(CP):c.2286-16del
NM_000096.4(CP):c.2286-18G>C
NM_000096.4(CP):c.2286-4del rs561633350
NM_000096.4(CP):c.2316G>A (p.Glu772=)
NM_000096.4(CP):c.2322C>A (p.Tyr774Ter) rs2108230432
NM_000096.4(CP):c.2331A>C (p.Ser777=) rs746132110
NM_000096.4(CP):c.233A>G (p.Glu78Gly) rs1451235847
NM_000096.4(CP):c.2342A>C (p.Lys781Thr)
NM_000096.4(CP):c.2347G>A (p.Val783Met)
NM_000096.4(CP):c.2354G>A (p.Arg785Gln) rs1257682995
NM_000096.4(CP):c.2367T>C (p.Asp789=) rs1725922755
NM_000096.4(CP):c.2377C>T (p.Arg793Cys)
NM_000096.4(CP):c.2389del (p.Glu797fs) rs386134149
NM_000096.4(CP):c.2395A>C (p.Lys799Gln)
NM_000096.4(CP):c.2401GAA[2] (p.Glu803del) rs1482869210
NM_000096.4(CP):c.2407G>C (p.Glu803Gln)
NM_000096.4(CP):c.240T>C (p.Phe80=)
NM_000096.4(CP):c.2421T>A (p.Ile807=) rs998289672
NM_000096.4(CP):c.2482G>A (p.Ala828Thr) rs1161226577
NM_000096.4(CP):c.2482del (p.Ala828fs) rs386134150
NM_000096.4(CP):c.2496C>T (p.Tyr832=) rs1199272207
NM_000096.4(CP):c.250A>G (p.Ile84Val)
NM_000096.4(CP):c.2511dup (p.Gly838fs) rs386134151
NM_000096.4(CP):c.2514G>A (p.Gly838=) rs1238808502
NM_000096.4(CP):c.2520_2523del (p.Thr841fs)
NM_000096.4(CP):c.2529T>C (p.Ser843=)
NM_000096.4(CP):c.2554+10G>A
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+15G>A rs751719558
NM_000096.4(CP):c.2554+19dup
NM_000096.4(CP):c.2554+1G>T rs386134140
NM_000096.4(CP):c.2555-12T>C
NM_000096.4(CP):c.2555-4T>G
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2575T>C (p.Trp859Arg) rs1725651811
NM_000096.4(CP):c.2594C>G (p.Ser865Cys) rs1410133815
NM_000096.4(CP):c.2603del (p.Gly868fs) rs386134152
NM_000096.4(CP):c.2617G>A (p.Ala873Thr) rs1472131747
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) rs570400135
NM_000096.4(CP):c.2622T>C (p.Cys874=)
NM_000096.4(CP):c.2626C>T (p.Pro876Ser)
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579
NM_000096.4(CP):c.2636A>T (p.Tyr879Phe)
NM_000096.4(CP):c.2650G>C (p.Asp884His) rs2108219609
NM_000096.4(CP):c.2662-13T>C rs200646301
NM_000096.4(CP):c.2662-3C>T
NM_000096.4(CP):c.2670C>A (p.Tyr890Ter)
NM_000096.4(CP):c.2675G>A (p.Gly892Glu) rs386134131
NM_000096.4(CP):c.267G>A (p.Trp89Ter)
NM_000096.4(CP):c.2698T>C (p.Cys900Arg)
NM_000096.4(CP):c.2702dup (p.Arg902fs) rs1559935542
NM_000096.4(CP):c.2704A>C (p.Arg902=) rs2108216869
NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)
NM_000096.4(CP):c.2732G>T (p.Arg911Ile)
NM_000096.4(CP):c.2741T>A (p.Leu914Gln)
NM_000096.4(CP):c.2741T>G (p.Leu914Arg)
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2762T>C (p.Leu921Pro) rs1725565373
NM_000096.4(CP):c.277T>A (p.Leu93Ile)
NM_000096.4(CP):c.2782T>A (p.Ser928Thr) rs2108216572
NM_000096.4(CP):c.2811A>G (p.Thr937=)
NM_000096.4(CP):c.2831A>G (p.Lys944Arg)
NM_000096.4(CP):c.2835A>G (p.Val945=) rs2108216294
NM_000096.4(CP):c.2837A>G (p.Asn946Ser) rs1185823259
NM_000096.4(CP):c.2860G>A (p.Glu954Lys)
NM_000096.4(CP):c.2878+9C>T rs769666265
NM_000096.4(CP):c.2879-1G>A rs386134141
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.2879-2A>G rs1406530488
NM_000096.4(CP):c.2886T>G (p.Asn962Lys)
NM_000096.4(CP):c.290_292del (p.Ile97del) rs2108302022
NM_000096.4(CP):c.2917dup (p.Thr973fs) rs386134154
NM_000096.4(CP):c.2925C>T (p.His975=)
NM_000096.4(CP):c.2934T>C (p.Asp978=)
NM_000096.4(CP):c.2937A>G (p.Glu979=)
NM_000096.4(CP):c.2947T>C (p.Tyr983His)
NM_000096.4(CP):c.2953A>G (p.Met985Val) rs386134132
NM_000096.4(CP):c.2962G>A (p.Gly988Ser) rs386134133
NM_000096.4(CP):c.2977T>C (p.Leu993=)
NM_000096.4(CP):c.2978T>C (p.Leu993Ser)
NM_000096.4(CP):c.2991T>G (p.His997Gln) rs34394958
NM_000096.4(CP):c.3003T>C (p.His1001=)
NM_000096.4(CP):c.3018+8C>G
NM_000096.4(CP):c.3018+8C>T
NM_000096.4(CP):c.3018+9_3018+12dup rs1342162840
NM_000096.4(CP):c.3019-1G>A rs386134142
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
NM_000096.4(CP):c.306A>G (p.Gly102=)
NM_000096.4(CP):c.3076C>T (p.Leu1026=)
NM_000096.4(CP):c.3111A>G (p.Leu1037=)
NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)
NM_000096.4(CP):c.313del (p.Val105fs)
NM_000096.4(CP):c.3181+11A>C
NM_000096.4(CP):c.3182-7T>A
NM_000096.4(CP):c.375T>C (p.Thr125=)
NM_000096.4(CP):c.376_379del (p.Tyr126fs) rs2108301637
NM_000096.4(CP):c.389A>G (p.His130Arg) rs747953840
NM_000096.4(CP):c.390T>A (p.His130Gln)
NM_000096.4(CP):c.393G>A (p.Glu131=) rs754943824
NM_000096.4(CP):c.394+6T>C
NM_000096.4(CP):c.395-14A>T
NM_000096.4(CP):c.395-20C>T
NM_000096.4(CP):c.3G>T (p.Met1Ile)
NM_000096.4(CP):c.407C>T (p.Pro136Leu) rs878959339
NM_000096.4(CP):c.40A>G (p.Ser14Gly)
NM_000096.4(CP):c.411T>C (p.Asp137=) rs747012860
NM_000096.4(CP):c.438T>A (p.Asp146Glu)
NM_000096.4(CP):c.438T>C (p.Asp146=) rs778389238
NM_000096.4(CP):c.461A>C (p.Gln154Pro)
NM_000096.4(CP):c.465T>C (p.Tyr155=)
NM_000096.4(CP):c.468A>C (p.Thr156=) rs532168420
NM_000096.4(CP):c.493C>G (p.Gln165Glu) rs386134122
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.552T>C (p.Asp184=)
NM_000096.4(CP):c.587C>G (p.Pro196Arg) rs386134124
NM_000096.4(CP):c.597C>G (p.Ile199Met) rs1728013449
NM_000096.4(CP):c.606dup (p.Asp203fs) rs386134143
NM_000096.4(CP):c.607+18T>A
NM_000096.4(CP):c.607+18T>C
NM_000096.4(CP):c.607+1G>A rs386134136
NM_000096.4(CP):c.607+1del rs753254095
NM_000096.4(CP):c.607+9_607+11del
NM_000096.4(CP):c.608-4_608-3insT
NM_000096.4(CP):c.608-5T>C
NM_000096.4(CP):c.608-6C>T
NM_000096.4(CP):c.631A>T (p.Lys211Ter)
NM_000096.4(CP):c.632_633del (p.Lys211fs)
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_000096.4(CP):c.678A>C (p.Glu226Asp)
NM_000096.4(CP):c.694C>T (p.Leu232=)
NM_000096.4(CP):c.696A>G (p.Leu232=)
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.732G>T (p.Glu244Asp) rs917446548
NM_000096.4(CP):c.738T>C (p.Val246=) rs1727947362
NM_000096.4(CP):c.746A>C (p.Asp249Ala)
NM_000096.4(CP):c.782-10T>C
NM_000096.4(CP):c.782-9G>T rs566719310
NM_000096.4(CP):c.786G>A (p.Val262=)
NM_000096.4(CP):c.786G>T (p.Val262=)
NM_000096.4(CP):c.809T>C (p.Leu270Pro) rs760359106
NM_000096.4(CP):c.80G>C (p.Gly27Ala)
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.886G>A (p.Ala296Thr) rs765169503
NM_000096.4(CP):c.88G>C (p.Glu30Gln) rs1728820847
NM_000096.4(CP):c.909A>G (p.Ala303=)
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038
NM_000096.4(CP):c.952C>T (p.Pro318Ser)
NM_000096.4(CP):c.966T>C (p.Phe322=) rs1727813358
NM_000096.4(CP):c.984C>T (p.Ala328=) rs2108290269
NM_000096.4(CP):c.991C>A (p.Pro331Thr) rs376348284

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