ClinVar Miner

List of variants in gene CTC1 reported as likely benign for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.3153G>C (p.Arg1051=) rs3027242 0.01548
NM_025099.6(CTC1):c.126A>G (p.Val42=) rs116271319 0.01470
NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly) rs78390421 0.01469
NM_025099.6(CTC1):c.*1369A>G rs150798403 0.00246
NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter) rs147714487 0.00118
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_025099.6(CTC1):c.*1205T>G rs183725401 0.00106
NM_025099.6(CTC1):c.1728G>A (p.Pro576=) rs78320653 0.00083
NM_025099.6(CTC1):c.1401C>T (p.Tyr467=) rs150409406 0.00079
NM_025099.6(CTC1):c.*2115C>G rs187344168 0.00072
NM_025099.6(CTC1):c.3221+16G>A rs372958727 0.00052
NM_025099.6(CTC1):c.2522G>A (p.Arg841His) rs780358670 0.00049
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_025099.6(CTC1):c.1140G>T (p.Gly380=) rs201392995 0.00046
NM_025099.6(CTC1):c.2508C>G (p.Ser836=) rs146214808 0.00045
NM_025099.6(CTC1):c.189C>G (p.Leu63=) rs188658691 0.00044
NM_025099.6(CTC1):c.3221+13G>C rs115684610 0.00041
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_025099.6(CTC1):c.197+16G>A rs370799756 0.00036
NM_025099.6(CTC1):c.*460C>T rs371544637 0.00034
NM_025099.6(CTC1):c.3568G>A (p.Val1190Met) rs371036203 0.00034
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025099.6(CTC1):c.2174C>G (p.Pro725Arg) rs371046424 0.00032
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_025099.6(CTC1):c.2737G>A (p.Ala913Thr) rs201203345 0.00031
NM_025099.6(CTC1):c.1795C>T (p.Pro599Ser) rs183556317 0.00029
NM_025099.6(CTC1):c.2828C>T (p.Pro943Leu) rs376216833 0.00028
NM_025099.6(CTC1):c.3079G>A (p.Ala1027Thr) rs374126761 0.00027
NM_025099.6(CTC1):c.1530C>T (p.Thr510=) rs376217684 0.00024
NM_025099.6(CTC1):c.34-9T>G rs201195157 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025099.6(CTC1):c.*1486C>T rs574706247 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_025099.6(CTC1):c.1333C>T (p.Arg445Cys) rs201273283 0.00021
NM_025099.6(CTC1):c.2407T>G (p.Ser803Ala) rs199989447 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.3074C>T (p.Ala1025Val) rs183966301 0.00019
NM_025099.6(CTC1):c.3567C>T (p.His1189=) rs374942931 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025099.6(CTC1):c.1479A>G (p.Gln493=) rs188654013 0.00018
NM_025099.6(CTC1):c.2345G>C (p.Gly782Ala) rs530949904 0.00018
NM_025099.6(CTC1):c.3384T>C (p.Leu1128=) rs945189616 0.00016
NM_025099.6(CTC1):c.*1663G>A rs552635622 0.00015
NM_025099.6(CTC1):c.3246C>T (p.Ala1082=) rs201124470 0.00014
NM_025099.6(CTC1):c.3600T>C (p.Ser1200=) rs761178911 0.00011
NM_025099.6(CTC1):c.391G>A (p.Gly131Arg) rs200137992 0.00010
NM_025099.6(CTC1):c.*2106G>T rs192934640 0.00009
NM_025099.6(CTC1):c.1748G>A (p.Ser583Asn) rs568980956 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_025099.6(CTC1):c.2476-7C>T rs189539795 0.00007
NM_025099.6(CTC1):c.3087C>T (p.Cys1029=) rs775991134 0.00007
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.1366C>T (p.Leu456=) rs529158574 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025099.6(CTC1):c.843T>C (p.Tyr281=) rs367935180 0.00006
NM_025099.6(CTC1):c.3426C>T (p.Leu1142=) rs745512137 0.00005
NM_025099.6(CTC1):c.648-9C>T rs779778738 0.00005
NM_025099.6(CTC1):c.*327C>T rs569217905 0.00004
NM_025099.6(CTC1):c.1107C>T (p.Pro369=) rs576049782 0.00004
NM_025099.6(CTC1):c.1293T>C (p.Leu431=) rs764709117 0.00004
NM_025099.6(CTC1):c.1359C>T (p.Tyr453=) rs371189165 0.00004
NM_025099.6(CTC1):c.1542A>G (p.Leu514=) rs369802087 0.00004
NM_025099.6(CTC1):c.197+13G>A rs377444887 0.00004
NM_025099.6(CTC1):c.2061-6C>T rs370503002 0.00004
NM_025099.6(CTC1):c.2461G>T (p.Ala821Ser) rs771475755 0.00004
NM_025099.6(CTC1):c.258G>A (p.Ser86=) rs369789111 0.00004
NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe) rs373660155 0.00004
NM_025099.6(CTC1):c.3222-4A>G rs562479062 0.00004
NM_025099.6(CTC1):c.3514+18G>A rs770137845 0.00004
NM_025099.6(CTC1):c.630C>G (p.Ser210=) rs750601480 0.00004
NM_025099.6(CTC1):c.1078-14C>T rs778409864 0.00003
NM_025099.6(CTC1):c.1284C>T (p.Ala428=) rs751503167 0.00003
NM_025099.6(CTC1):c.1344C>T (p.Tyr448=) rs758414171 0.00003
NM_025099.6(CTC1):c.2049G>A (p.Lys683=) rs1224287906 0.00003
NM_025099.6(CTC1):c.2060+8C>T rs774720707 0.00003
NM_025099.6(CTC1):c.2244C>T (p.Val748=) rs758516017 0.00003
NM_025099.6(CTC1):c.2352C>T (p.Pro784=) rs372436060 0.00003
NM_025099.6(CTC1):c.2370C>T (p.Asp790=) rs765241138 0.00003
NM_025099.6(CTC1):c.2385+19G>A rs766195246 0.00003
NM_025099.6(CTC1):c.2670-7C>T rs750034989 0.00003
NM_025099.6(CTC1):c.2721A>C (p.Leu907=) rs776568637 0.00003
NM_025099.6(CTC1):c.2799C>A (p.Val933=) rs756487472 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025099.6(CTC1):c.647+16A>G rs761287304 0.00003
NM_025099.6(CTC1):c.1398C>G (p.Leu466=) rs777305874 0.00002
NM_025099.6(CTC1):c.1945+8G>A rs746083383 0.00002
NM_025099.6(CTC1):c.198-10C>T rs764516700 0.00002
NM_025099.6(CTC1):c.2476-6G>A rs768967446 0.00002
NM_025099.6(CTC1):c.2683T>C (p.Leu895=) rs764648488 0.00002
NM_025099.6(CTC1):c.3495G>A (p.Pro1165=) rs556097361 0.00002
NM_025099.6(CTC1):c.3515-9C>T rs1225599531 0.00002
NM_025099.6(CTC1):c.363G>A (p.Ser121=) rs770555372 0.00002
NM_025099.6(CTC1):c.390C>T (p.Asn130=) rs559790131 0.00002
NM_025099.6(CTC1):c.591C>T (p.Pro197=) rs538242855 0.00002
NM_025099.6(CTC1):c.793-17G>A rs751885616 0.00002
NM_025099.6(CTC1):c.1032G>A (p.Lys344=) rs376394434 0.00001
NM_025099.6(CTC1):c.1047T>C (p.Leu349=) rs1161961298 0.00001
NM_025099.6(CTC1):c.105T>C (p.Asn35=) rs775601506 0.00001
NM_025099.6(CTC1):c.1068A>G (p.Leu356=) rs756221416 0.00001
NM_025099.6(CTC1):c.1078-13G>A rs200325111 0.00001
NM_025099.6(CTC1):c.1092C>T (p.Gly364=) rs761668228 0.00001
NM_025099.6(CTC1):c.1155C>T (p.Tyr385=) rs1170351542 0.00001
NM_025099.6(CTC1):c.1206+7G>C rs949969553 0.00001
NM_025099.6(CTC1):c.1207-7C>A rs746123381 0.00001
NM_025099.6(CTC1):c.1242G>A (p.Gly414=) rs778096377 0.00001
NM_025099.6(CTC1):c.1350C>T (p.Ala450=) rs763760200 0.00001
NM_025099.6(CTC1):c.1467C>T (p.His489=) rs755429023 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1515A>G (p.Gln505=) rs759341353 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.1617+8G>A rs200232133 0.00001
NM_025099.6(CTC1):c.1618-14T>C rs767597943 0.00001
NM_025099.6(CTC1):c.1620C>T (p.Tyr540=) rs765073204 0.00001
NM_025099.6(CTC1):c.1635T>C (p.Thr545=) rs768300804 0.00001
NM_025099.6(CTC1):c.1650C>T (p.Pro550=) rs368449753 0.00001
NM_025099.6(CTC1):c.1710G>A (p.Lys570=) rs376757390 0.00001
NM_025099.6(CTC1):c.1743G>A (p.Leu581=) rs1256128659 0.00001
NM_025099.6(CTC1):c.1794G>A (p.Leu598=) rs1171819624 0.00001
NM_025099.6(CTC1):c.1819-14T>G rs753627056 0.00001
NM_025099.6(CTC1):c.183G>A (p.Leu61=) rs1273538880 0.00001
NM_025099.6(CTC1):c.1899G>C (p.Leu633=) rs983492190 0.00001
NM_025099.6(CTC1):c.1980C>T (p.Ile660=) rs929139383 0.00001
NM_025099.6(CTC1):c.204C>T (p.Val68=) rs767705861 0.00001
NM_025099.6(CTC1):c.2061-7C>T rs766368157 0.00001
NM_025099.6(CTC1):c.2121T>G (p.Leu707=) rs899017902 0.00001
NM_025099.6(CTC1):c.2250A>G (p.Pro750=) rs200036724 0.00001
NM_025099.6(CTC1):c.2277C>T (p.Pro759=) rs1264286773 0.00001
NM_025099.6(CTC1):c.233G>A (p.Arg78His) rs369627256 0.00001
NM_025099.6(CTC1):c.2376T>C (p.Asn792=) rs1206581935 0.00001
NM_025099.6(CTC1):c.2385+18G>A rs1449666905 0.00001
NM_025099.6(CTC1):c.2386-10A>G rs746382653 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.2476-15C>G rs748214993 0.00001
NM_025099.6(CTC1):c.2476-20G>A rs374177499 0.00001
NM_025099.6(CTC1):c.2652C>T (p.Thr884=) rs764276520 0.00001
NM_025099.6(CTC1):c.2697C>T (p.Ser899=) rs551850837 0.00001
NM_025099.6(CTC1):c.2712A>G (p.Ser904=) rs1597376076 0.00001
NM_025099.6(CTC1):c.2730C>T (p.Pro910=) rs1302556489 0.00001
NM_025099.6(CTC1):c.2739G>A (p.Ala913=) rs745541560 0.00001
NM_025099.6(CTC1):c.2759-10C>A rs766460177 0.00001
NM_025099.6(CTC1):c.2759-18C>T rs751836178 0.00001
NM_025099.6(CTC1):c.2766G>A (p.Thr922=) rs775342727 0.00001
NM_025099.6(CTC1):c.2934-16C>T rs759449159 0.00001
NM_025099.6(CTC1):c.3003C>T (p.Thr1001=) rs1228344704 0.00001
NM_025099.6(CTC1):c.306T>C (p.Asn102=) rs1469406841 0.00001
NM_025099.6(CTC1):c.3156+13A>C rs554186531 0.00001
NM_025099.6(CTC1):c.3156+18C>T rs1987003651 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025099.6(CTC1):c.3330C>T (p.Phe1110=) rs779335414 0.00001
NM_025099.6(CTC1):c.3514+14C>T rs551437595 0.00001
NM_025099.6(CTC1):c.3564T>C (p.Thr1188=) rs750119408 0.00001
NM_025099.6(CTC1):c.435+12G>A rs1246653256 0.00001
NM_025099.6(CTC1):c.534C>T (p.His178=) rs1251648065 0.00001
NM_025099.6(CTC1):c.647+12C>G rs750369449 0.00001
NM_025099.6(CTC1):c.744T>G (p.Ser248=) rs1219363352 0.00001
NM_025099.6(CTC1):c.786C>T (p.Ile262=) rs781453163 0.00001
NM_025099.6(CTC1):c.918T>C (p.Arg306=) rs770766250 0.00001
NM_025099.6(CTC1):c.99G>A (p.Glu33=) rs201091226 0.00001
NM_025099.6(CTC1):c.*1103C>A rs75272219
NM_025099.6(CTC1):c.*1105G>A rs141632364
NM_025099.6(CTC1):c.*1474G>C rs78517666
NM_025099.6(CTC1):c.*1477G>A rs112336268
NM_025099.6(CTC1):c.*1477G>C rs112336268
NM_025099.6(CTC1):c.*1477G>T rs112336268
NM_025099.6(CTC1):c.*3255G>C rs8072663
NM_025099.6(CTC1):c.1011C>T (p.Pro337=)
NM_025099.6(CTC1):c.1026C>T (p.Asp342=)
NM_025099.6(CTC1):c.1066C>T (p.Leu356=) rs1244119231
NM_025099.6(CTC1):c.1077+19C>T
NM_025099.6(CTC1):c.1078-16C>G
NM_025099.6(CTC1):c.1078-18A>G
NM_025099.6(CTC1):c.1078-4G>A rs375114652
NM_025099.6(CTC1):c.1078-4G>T rs375114652
NM_025099.6(CTC1):c.1078-8G>A
NM_025099.6(CTC1):c.108C>T (p.Val36=) rs2151546050
NM_025099.6(CTC1):c.1135C>T (p.Leu379=) rs1597385203
NM_025099.6(CTC1):c.1161G>A (p.Gln387=)
NM_025099.6(CTC1):c.1173T>C (p.Leu391=)
NM_025099.6(CTC1):c.1197G>A (p.Val399=)
NM_025099.6(CTC1):c.1206+13A>G
NM_025099.6(CTC1):c.1206+15G>A
NM_025099.6(CTC1):c.1206+16G>A
NM_025099.6(CTC1):c.1206+19G>A
NM_025099.6(CTC1):c.1242G>C (p.Gly414=)
NM_025099.6(CTC1):c.1245G>C (p.Gly415=) rs1987612163
NM_025099.6(CTC1):c.1263C>T (p.Leu421=) rs536218211
NM_025099.6(CTC1):c.1281C>A (p.Gly427=) rs754774538
NM_025099.6(CTC1):c.1320G>T (p.Gly440=) rs2151519856
NM_025099.6(CTC1):c.1332C>A (p.Ser444=)
NM_025099.6(CTC1):c.1332C>G (p.Ser444=) rs1987600121
NM_025099.6(CTC1):c.1332C>T (p.Ser444=)
NM_025099.6(CTC1):c.1353C>G (p.Ser451=)
NM_025099.6(CTC1):c.1354C>T (p.Leu452=) rs1987595222
NM_025099.6(CTC1):c.1371G>T (p.Val457=) rs2151519516
NM_025099.6(CTC1):c.1404G>A (p.Leu468=) rs1987588693
NM_025099.6(CTC1):c.1410T>C (p.Ala470=)
NM_025099.6(CTC1):c.1439+17C>T rs1467120986
NM_025099.6(CTC1):c.1439+7A>G rs1987585756
NM_025099.6(CTC1):c.1439+7_1439+9del rs1391648072
NM_025099.6(CTC1):c.1439+8G>A
NM_025099.6(CTC1):c.1439+9G>C
NM_025099.6(CTC1):c.1440-19G>A
NM_025099.6(CTC1):c.1440-20_1440-19del rs1332067370
NM_025099.6(CTC1):c.1461A>G (p.Arg487=)
NM_025099.6(CTC1):c.147C>G (p.Val49=)
NM_025099.6(CTC1):c.1494G>A (p.Gly498=) rs750860792
NM_025099.6(CTC1):c.1504C>T (p.Leu502=)
NM_025099.6(CTC1):c.1509A>G (p.Gly503=) rs2151518608
NM_025099.6(CTC1):c.1539T>C (p.Leu513=) rs2151518499
NM_025099.6(CTC1):c.1548G>T (p.Pro516=)
NM_025099.6(CTC1):c.1557C>T (p.Ser519=)
NM_025099.6(CTC1):c.1564C>A (p.Arg522=) rs199698527
NM_025099.6(CTC1):c.1566G>C (p.Arg522=)
NM_025099.6(CTC1):c.1593G>A (p.Glu531=) rs1407136775
NM_025099.6(CTC1):c.1611C>T (p.Leu537=)
NM_025099.6(CTC1):c.1617+13G>A
NM_025099.6(CTC1):c.1617+13G>C
NM_025099.6(CTC1):c.1617+13G>T
NM_025099.6(CTC1):c.1617+7G>C
NM_025099.6(CTC1):c.1618-16C>T
NM_025099.6(CTC1):c.1618-8C>T rs2151517816
NM_025099.6(CTC1):c.1618-9C>T rs2151517821
NM_025099.6(CTC1):c.1626G>A (p.Arg542=)
NM_025099.6(CTC1):c.1638C>T (p.Pro546=) rs2151517678
NM_025099.6(CTC1):c.1644C>G (p.Ser548=)
NM_025099.6(CTC1):c.165G>A (p.Arg55=) rs2151545845
NM_025099.6(CTC1):c.1683T>G (p.Arg561=) rs1285328109
NM_025099.6(CTC1):c.1704C>T (p.Asp568=)
NM_025099.6(CTC1):c.1719G>C (p.Leu573=) rs1282827614
NM_025099.6(CTC1):c.1725C>G (p.Leu575=)
NM_025099.6(CTC1):c.1728G>T (p.Pro576=) rs78320653
NM_025099.6(CTC1):c.1764C>T (p.Arg588=)
NM_025099.6(CTC1):c.1789C>T (p.Leu597=)
NM_025099.6(CTC1):c.1797C>T (p.Pro599=) rs2151516939
NM_025099.6(CTC1):c.180A>G (p.Thr60=)
NM_025099.6(CTC1):c.1812A>G (p.Pro604=)
NM_025099.6(CTC1):c.1815C>T (p.Ala605=)
NM_025099.6(CTC1):c.1818+17C>T
NM_025099.6(CTC1):c.1819-12A>T
NM_025099.6(CTC1):c.1819-17C>T
NM_025099.6(CTC1):c.1819-19A>C
NM_025099.6(CTC1):c.1819-21_1819-17del rs2151513134
NM_025099.6(CTC1):c.1819-4G>T
NM_025099.6(CTC1):c.181C>T (p.Leu61=) rs1439520622
NM_025099.6(CTC1):c.1845A>G (p.Ser615=)
NM_025099.6(CTC1):c.1857T>C (p.Gly619=) rs2151512859
NM_025099.6(CTC1):c.1890G>A (p.Leu630=) rs765952322
NM_025099.6(CTC1):c.1890G>C (p.Leu630=)
NM_025099.6(CTC1):c.1923C>T (p.Pro641=) rs1432613856
NM_025099.6(CTC1):c.1926C>T (p.Leu642=)
NM_025099.6(CTC1):c.1938G>A (p.Arg646=)
NM_025099.6(CTC1):c.1945+10del
NM_025099.6(CTC1):c.1945+19G>A rs2151512377
NM_025099.6(CTC1):c.1946-11T>C rs372245030
NM_025099.6(CTC1):c.1946-17A>G
NM_025099.6(CTC1):c.1946-4C>T
NM_025099.6(CTC1):c.1956G>A (p.Val652=) rs2151511215
NM_025099.6(CTC1):c.197+18T>C
NM_025099.6(CTC1):c.197+8G>A
NM_025099.6(CTC1):c.198-12T>G rs2151532365
NM_025099.6(CTC1):c.198-15C>G
NM_025099.6(CTC1):c.198-17T>C
NM_025099.6(CTC1):c.198-20C>G
NM_025099.6(CTC1):c.198-4A>G rs1597389646
NM_025099.6(CTC1):c.1989G>A (p.Arg663=)
NM_025099.6(CTC1):c.1992C>T (p.Asp664=) rs755004377
NM_025099.6(CTC1):c.2013C>G (p.Ser671=)
NM_025099.6(CTC1):c.2019G>A (p.Lys673=) rs2151510979
NM_025099.6(CTC1):c.201C>T (p.Phe67=) rs552540195
NM_025099.6(CTC1):c.2037C>T (p.Gly679=) rs2151510889
NM_025099.6(CTC1):c.2060+10T>G
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2060+13G>C
NM_025099.6(CTC1):c.2060+18A>G
NM_025099.6(CTC1):c.2060+9C>A rs2151510790
NM_025099.6(CTC1):c.2061-11T>C
NM_025099.6(CTC1):c.2061-12C>G
NM_025099.6(CTC1):c.2061-14G>T rs774632748
NM_025099.6(CTC1):c.2061-20T>G
NM_025099.6(CTC1):c.2061-5A>G
NM_025099.6(CTC1):c.2097C>T (p.Ile699=)
NM_025099.6(CTC1):c.2100G>C (p.Leu700=)
NM_025099.6(CTC1):c.210A>G (p.Val70=)
NM_025099.6(CTC1):c.2136C>T (p.Pro712=)
NM_025099.6(CTC1):c.2166A>G (p.Pro722=) rs2151509876
NM_025099.6(CTC1):c.2175C>T (p.Pro725=)
NM_025099.6(CTC1):c.2178C>T (p.His726=) rs201146538
NM_025099.6(CTC1):c.2235T>C (p.Asn745=) rs2151509581
NM_025099.6(CTC1):c.2244C>G (p.Val748=) rs758516017
NM_025099.6(CTC1):c.2247C>G (p.Pro749=)
NM_025099.6(CTC1):c.2247C>T (p.Pro749=)
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025099.6(CTC1):c.225T>C (p.Thr75=) rs761598220
NM_025099.6(CTC1):c.2280C>T (p.Ala760=)
NM_025099.6(CTC1):c.228C>T (p.His76=) rs531109382
NM_025099.6(CTC1):c.2292T>C (p.Tyr764=)
NM_025099.6(CTC1):c.2310T>G (p.Leu770=)
NM_025099.6(CTC1):c.2322G>A (p.Gln774=)
NM_025099.6(CTC1):c.2337T>C (p.Thr779=) rs1567603423
NM_025099.6(CTC1):c.2346G>T (p.Gly782=)
NM_025099.6(CTC1):c.237C>G (p.Leu79=) rs2151532137
NM_025099.6(CTC1):c.237C>T (p.Leu79=)
NM_025099.6(CTC1):c.2386-16C>T
NM_025099.6(CTC1):c.2386-16del
NM_025099.6(CTC1):c.2386-20T>A rs374816662
NM_025099.6(CTC1):c.2386-20T>C rs374816662
NM_025099.6(CTC1):c.2386-5C>T rs757334155
NM_025099.6(CTC1):c.2391C>T (p.His797=)
NM_025099.6(CTC1):c.2394C>G (p.Leu798=)
NM_025099.6(CTC1):c.2409T>C (p.Ser803=) rs1987252367
NM_025099.6(CTC1):c.2418C>T (p.Arg806=)
NM_025099.6(CTC1):c.2451C>T (p.Tyr817=)
NM_025099.6(CTC1):c.2466T>C (p.Pro822=) rs2151508201
NM_025099.6(CTC1):c.246C>T (p.Cys82=)
NM_025099.6(CTC1):c.2472C>G (p.Pro824=) rs558802130
NM_025099.6(CTC1):c.2475+10C>T
NM_025099.6(CTC1):c.2475+20A>G
NM_025099.6(CTC1):c.2475+9C>A rs781404123
NM_025099.6(CTC1):c.2475+9C>G
NM_025099.6(CTC1):c.2475+9C>T rs781404123
NM_025099.6(CTC1):c.2505A>G (p.Ser835=)
NM_025099.6(CTC1):c.2508C>T (p.Ser836=)
NM_025099.6(CTC1):c.2538T>C (p.Ala846=)
NM_025099.6(CTC1):c.2547A>G (p.Ala849=)
NM_025099.6(CTC1):c.2583G>A (p.Glu861=)
NM_025099.6(CTC1):c.2586T>G (p.Leu862=) rs2151506876
NM_025099.6(CTC1):c.258G>C (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.258G>T (p.Ser86=) rs369789111
NM_025099.6(CTC1):c.2610T>C (p.Asp870=)
NM_025099.6(CTC1):c.2613G>A (p.Val871=)
NM_025099.6(CTC1):c.2619T>C (p.Asp873=) rs2151506753
NM_025099.6(CTC1):c.2631A>G (p.Ser877=) rs1335870783
NM_025099.6(CTC1):c.2661C>T (p.Leu887=)
NM_025099.6(CTC1):c.2669+13C>G
NM_025099.6(CTC1):c.2669+17C>A
NM_025099.6(CTC1):c.2669+18C>T rs769461004
NM_025099.6(CTC1):c.2670-12C>G rs1987142319
NM_025099.6(CTC1):c.2718A>G (p.Thr906=)
NM_025099.6(CTC1):c.2719C>T (p.Leu907=)
NM_025099.6(CTC1):c.2721A>G (p.Leu907=) rs776568637
NM_025099.6(CTC1):c.273A>G (p.Ala91=)
NM_025099.6(CTC1):c.2742T>C (p.Ser914=) rs1248489024
NM_025099.6(CTC1):c.2758+11T>C
NM_025099.6(CTC1):c.2758+18G>A
NM_025099.6(CTC1):c.2758+7A>T rs2151504452
NM_025099.6(CTC1):c.2759-12T>C
NM_025099.6(CTC1):c.2759-20C>T
NM_025099.6(CTC1):c.2759-4A>G rs374727205
NM_025099.6(CTC1):c.2759-4A>T rs374727205
NM_025099.6(CTC1):c.2799C>T (p.Val933=)
NM_025099.6(CTC1):c.2802T>C (p.Ala934=)
NM_025099.6(CTC1):c.2811T>G (p.Thr937=)
NM_025099.6(CTC1):c.2826C>T (p.Phe942=)
NM_025099.6(CTC1):c.2836C>T (p.Leu946=)
NM_025099.6(CTC1):c.2847T>C (p.Tyr949=)
NM_025099.6(CTC1):c.2880A>G (p.Gly960=)
NM_025099.6(CTC1):c.288C>T (p.Ala96=)
NM_025099.6(CTC1):c.2898G>A (p.Arg966=)
NM_025099.6(CTC1):c.2910C>T (p.Ser970=)
NM_025099.6(CTC1):c.2914T>C (p.Leu972=)
NM_025099.6(CTC1):c.2933+18C>T
NM_025099.6(CTC1):c.2933+8T>C rs1160513274
NM_025099.6(CTC1):c.2933+9G>A
NM_025099.6(CTC1):c.2934-13C>T
NM_025099.6(CTC1):c.3011+10C>G
NM_025099.6(CTC1):c.3011+19A>G
NM_025099.6(CTC1):c.3011+19del
NM_025099.6(CTC1):c.3012-12G>C
NM_025099.6(CTC1):c.3012-18C>T
NM_025099.6(CTC1):c.3012-20_3012-19del rs372844070
NM_025099.6(CTC1):c.3012-5_3012-2del rs2151500920
NM_025099.6(CTC1):c.3012-7T>C
NM_025099.6(CTC1):c.3024C>T (p.Pro1008=)
NM_025099.6(CTC1):c.3033C>T (p.Tyr1011=)
NM_025099.6(CTC1):c.303A>G (p.Pro101=)
NM_025099.6(CTC1):c.3045T>A (p.Leu1015=)
NM_025099.6(CTC1):c.3066A>G (p.Pro1022=)
NM_025099.6(CTC1):c.3066A>T (p.Pro1022=)
NM_025099.6(CTC1):c.3081C>T (p.Ala1027=)
NM_025099.6(CTC1):c.3108C>T (p.Ser1036=)
NM_025099.6(CTC1):c.3150C>T (p.Cys1050=) rs1310614752
NM_025099.6(CTC1):c.3156+10G>A
NM_025099.6(CTC1):c.3157-14T>C
NM_025099.6(CTC1):c.3157-15C>T
NM_025099.6(CTC1):c.3157-16A>C rs1986997815
NM_025099.6(CTC1):c.3157-7A>T rs2151500127
NM_025099.6(CTC1):c.315C>T (p.Pro105=)
NM_025099.6(CTC1):c.3174G>A (p.Leu1058=) rs1597373933
NM_025099.6(CTC1):c.3192G>A (p.Thr1064=)
NM_025099.6(CTC1):c.3216C>T (p.Ile1072=) rs2151499882
NM_025099.6(CTC1):c.3221+14G>A
NM_025099.6(CTC1):c.3221+15C>T
NM_025099.6(CTC1):c.3221+19C>A rs2151499736
NM_025099.6(CTC1):c.3221+20A>G
NM_025099.6(CTC1):c.3222-10C>G
NM_025099.6(CTC1):c.3222-10C>T
NM_025099.6(CTC1):c.3231G>A (p.Val1077=) rs2151499073
NM_025099.6(CTC1):c.3276T>C (p.His1092=)
NM_025099.6(CTC1):c.3303T>C (p.Pro1101=)
NM_025099.6(CTC1):c.3324A>G (p.Leu1108=)
NM_025099.6(CTC1):c.3387+9T>C rs2151498469
NM_025099.6(CTC1):c.3388-11_3388-9del rs1262324249
NM_025099.6(CTC1):c.3388-19C>T
NM_025099.6(CTC1):c.3388-20C>G
NM_025099.6(CTC1):c.3388-22_3388-17del rs780812864
NM_025099.6(CTC1):c.3388-5T>C
NM_025099.6(CTC1):c.3388-7T>C rs752759103
NM_025099.6(CTC1):c.3388-8C>T
NM_025099.6(CTC1):c.34-13T>G
NM_025099.6(CTC1):c.34-6C>T
NM_025099.6(CTC1):c.3405C>T (p.Asp1135=)
NM_025099.6(CTC1):c.3432A>C (p.Thr1144=) rs1285633618
NM_025099.6(CTC1):c.3441T>C (p.Thr1147=)
NM_025099.6(CTC1):c.3447C>T (p.Pro1149=)
NM_025099.6(CTC1):c.3468G>T (p.Val1156=) rs1213104518
NM_025099.6(CTC1):c.3492A>G (p.Lys1164=) rs952574848
NM_025099.6(CTC1):c.3498G>T (p.Ser1166=) rs369209127
NM_025099.6(CTC1):c.3510A>G (p.Pro1170=)
NM_025099.6(CTC1):c.3514+15G>A
NM_025099.6(CTC1):c.3514+16G>C
NM_025099.6(CTC1):c.3514+16G>T
NM_025099.6(CTC1):c.3514+7T>C
NM_025099.6(CTC1):c.3514+8T>G
NM_025099.6(CTC1):c.3515-19T>C rs2151497033
NM_025099.6(CTC1):c.3515-8C>T
NM_025099.6(CTC1):c.3515-8del rs2151496968
NM_025099.6(CTC1):c.3549G>A (p.Glu1183=)
NM_025099.6(CTC1):c.3555T>G (p.Pro1185=) rs755022443
NM_025099.6(CTC1):c.3558C>T (p.Phe1186=)
NM_025099.6(CTC1):c.3576C>G (p.Pro1192=) rs2151496784
NM_025099.6(CTC1):c.3586T>C (p.Leu1196=)
NM_025099.6(CTC1):c.3588G>A (p.Leu1196=)
NM_025099.6(CTC1):c.358C>T (p.Leu120=) rs2151531587
NM_025099.6(CTC1):c.3591C>T (p.Ser1197=) rs115990839
NM_025099.6(CTC1):c.360A>G (p.Leu120=) rs201957649
NM_025099.6(CTC1):c.3612A>G (p.Ser1204=)
NM_025099.6(CTC1):c.3628C>T (p.Leu1210=)
NM_025099.6(CTC1):c.3633G>A (p.Gly1211=)
NM_025099.6(CTC1):c.3642T>C (p.Ala1214=) rs2151496599
NM_025099.6(CTC1):c.3645C>G (p.Ser1215=) rs2151496592
NM_025099.6(CTC1):c.3648C>G (p.Ser1216=) rs2151496576
NM_025099.6(CTC1):c.36A>G (p.Glu12=)
NM_025099.6(CTC1):c.408A>G (p.Arg136=)
NM_025099.6(CTC1):c.420C>T (p.Gly140=) rs1207136461
NM_025099.6(CTC1):c.435+13T>A
NM_025099.6(CTC1):c.435+20C>A
NM_025099.6(CTC1):c.435+9A>C
NM_025099.6(CTC1):c.435+9A>G
NM_025099.6(CTC1):c.436-17C>G
NM_025099.6(CTC1):c.438C>A (p.Leu146=) rs922605347
NM_025099.6(CTC1):c.438C>G (p.Leu146=)
NM_025099.6(CTC1):c.438C>T (p.Leu146=)
NM_025099.6(CTC1):c.444C>T (p.Asp148=)
NM_025099.6(CTC1):c.447G>C (p.Leu149=)
NM_025099.6(CTC1):c.456T>C (p.Ser152=)
NM_025099.6(CTC1):c.480C>T (p.Phe160=)
NM_025099.6(CTC1):c.51G>A (p.Glu17=)
NM_025099.6(CTC1):c.54T>C (p.Asp18=)
NM_025099.6(CTC1):c.603C>T (p.Ile201=)
NM_025099.6(CTC1):c.615C>T (p.Tyr205=) rs571035242
NM_025099.6(CTC1):c.633C>T (p.Cys211=)
NM_025099.6(CTC1):c.63C>G (p.Val21=)
NM_025099.6(CTC1):c.647+10C>A
NM_025099.6(CTC1):c.647+11C>T
NM_025099.6(CTC1):c.647+18G>A rs373103137
NM_025099.6(CTC1):c.647+8C>T rs2151530046
NM_025099.6(CTC1):c.648-8C>T rs2151527978
NM_025099.6(CTC1):c.678G>A (p.Leu226=)
NM_025099.6(CTC1):c.697T>C (p.Leu233=) rs775207921
NM_025099.6(CTC1):c.711G>A (p.Val237=) rs1196630450
NM_025099.6(CTC1):c.762A>G (p.Pro254=)
NM_025099.6(CTC1):c.768C>T (p.Val256=)
NM_025099.6(CTC1):c.771C>G (p.Thr257=)
NM_025099.6(CTC1):c.774C>T (p.His258=)
NM_025099.6(CTC1):c.792+12G>A rs2151527447
NM_025099.6(CTC1):c.792+9T>A
NM_025099.6(CTC1):c.793-18T>G rs2151524334
NM_025099.6(CTC1):c.793-20C>T
NM_025099.6(CTC1):c.793-4C>A
NM_025099.6(CTC1):c.793-4C>G
NM_025099.6(CTC1):c.793-8C>A rs2151524293
NM_025099.6(CTC1):c.805C>T (p.Leu269=) rs898388984
NM_025099.6(CTC1):c.810G>A (p.Val270=)
NM_025099.6(CTC1):c.822C>T (p.Ala274=)
NM_025099.6(CTC1):c.849G>C (p.Leu283=) rs2151523972
NM_025099.6(CTC1):c.903C>G (p.Thr301=)
NM_025099.6(CTC1):c.903C>T (p.Thr301=) rs1597385951
NM_025099.6(CTC1):c.939A>G (p.Glu313=)
NM_025099.6(CTC1):c.972A>G (p.Gly324=)
NM_025099.6(CTC1):c.978C>T (p.Leu326=)
NM_025099.6(CTC1):c.979T>C (p.Leu327=) rs1987705280

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