ClinVar Miner

List of variants studied for Multiple gastrointestinal atresias

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ClinVar version:
Total variants: 849
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17069
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05377
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.03052
NM_020458.4(TTC7A):c.1641+17C>T rs78064634 0.01232
NM_020458.4(TTC7A):c.640T>C (p.Leu214=) rs57585816 0.00926
NM_020458.4(TTC7A):c.873G>C (p.Leu291=) rs113997845 0.00851
NM_020458.4(TTC7A):c.2152+20T>C rs13001154 0.00805
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00556
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00272
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_020458.4(TTC7A):c.1337C>T (p.Ser446Leu) rs114202807 0.00207
NM_020458.4(TTC7A):c.1617G>A (p.Ser539=) rs112085853 0.00189
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_020458.4(TTC7A):c.556C>T (p.Arg186Cys) rs148347796 0.00170
NM_020458.4(TTC7A):c.2061G>C (p.Glu687Asp) rs147410586 0.00169
NM_020458.4(TTC7A):c.1543C>T (p.Arg515Trp) rs144064667 0.00167
NM_020458.4(TTC7A):c.1447G>A (p.Gly483Arg) rs150438028 0.00166
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_020458.4(TTC7A):c.347C>T (p.Ser116Leu) rs115234247 0.00084
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr) rs115479276 0.00082
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr) rs117017326 0.00059
NM_020458.4(TTC7A):c.328C>G (p.Leu110Val) rs201960602 0.00055
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_020458.4(TTC7A):c.517+3A>G rs201376278 0.00044
NM_020458.4(TTC7A):c.1137C>T (p.Ala379=) rs144690060 0.00042
NM_020458.4(TTC7A):c.1125C>T (p.Ser375=) rs144037049 0.00041
NM_020458.4(TTC7A):c.592A>G (p.Thr198Ala) rs139708012 0.00040
NM_020458.4(TTC7A):c.2080A>G (p.Met694Val) rs143506259 0.00039
NM_020458.4(TTC7A):c.549C>T (p.Ile183=) rs199800071 0.00037
NM_020458.4(TTC7A):c.2246A>G (p.Tyr749Cys) rs200237098 0.00035
NM_020458.4(TTC7A):c.1532A>G (p.Asp511Gly) rs139416474 0.00032
NM_020458.4(TTC7A):c.1204-9C>T rs574765911 0.00030
NM_020458.4(TTC7A):c.2258G>A (p.Arg753Gln) rs201842124 0.00030
NM_020458.4(TTC7A):c.517+11G>A rs199559356 0.00027
NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala) rs113303079 0.00025
NM_020458.4(TTC7A):c.1449G>A (p.Gly483=) rs142810509 0.00024
NM_020458.4(TTC7A):c.1569-9C>T rs375554852 0.00024
NM_020458.4(TTC7A):c.2397G>A (p.Gln799=) rs139056071 0.00022
NM_020458.4(TTC7A):c.1203+4C>T rs147621000 0.00021
NM_020458.4(TTC7A):c.1803-10G>A rs111758559 0.00021
NM_020458.4(TTC7A):c.2454C>T (p.Gly818=) rs200783396 0.00021
NM_020458.4(TTC7A):c.433G>A (p.Ala145Thr) rs201163893 0.00021
NM_020458.4(TTC7A):c.843+10G>A rs369535348 0.00019
NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala) rs751550092 0.00017
NM_020458.4(TTC7A):c.185-14A>G rs370585197 0.00015
NM_020458.4(TTC7A):c.794G>A (p.Arg265Gln) rs78745374 0.00015
NM_020458.4(TTC7A):c.648+20G>A rs200822853 0.00014
NM_020458.4(TTC7A):c.1392+9G>T rs368491762 0.00013
NM_020458.4(TTC7A):c.2496C>T (p.Ala832=) rs553994940 0.00013
NM_020458.4(TTC7A):c.248C>A (p.Ala83Asp) rs145327046 0.00012
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser) rs200443615 0.00011
NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile) rs146284515 0.00011
NM_020458.4(TTC7A):c.1224G>A (p.Lys408=) rs761745008 0.00011
NM_020458.4(TTC7A):c.1288-7T>C rs967109047 0.00011
NM_020458.4(TTC7A):c.1392+17G>A rs371584761 0.00011
NM_020458.4(TTC7A):c.1559C>T (p.Thr520Met) rs142107031 0.00011
NM_020458.4(TTC7A):c.1641+3G>C rs370452371 0.00011
NM_020458.4(TTC7A):c.1919+10C>T rs201704252 0.00011
NM_020458.4(TTC7A):c.194G>C (p.Gly65Ala) rs374016606 0.00011
NM_020458.4(TTC7A):c.2015C>T (p.Ser672Phe) rs143184428 0.00011
NM_020458.4(TTC7A):c.2091G>A (p.Ser697=) rs756068587 0.00011
NM_020458.4(TTC7A):c.2440G>A (p.Glu814Lys) rs766107839 0.00011
NM_020458.4(TTC7A):c.826A>T (p.Thr276Ser) rs373538285 0.00011
NM_020458.4(TTC7A):c.1365G>A (p.Ala455=) rs372929050 0.00010
NM_020458.4(TTC7A):c.1569-18C>T rs201116007 0.00010
NM_020458.4(TTC7A):c.666G>A (p.Thr222=) rs374954171 0.00010
NM_020458.4(TTC7A):c.1073G>A (p.Arg358Gln) rs752771480 0.00009
NM_020458.4(TTC7A):c.1093G>A (p.Val365Met) rs202176990 0.00009
NM_020458.4(TTC7A):c.1363G>A (p.Ala455Thr) rs147112070 0.00009
NM_020458.4(TTC7A):c.1510+10A>G rs769710597 0.00009
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser) rs201008860 0.00009
NM_020458.4(TTC7A):c.1684C>T (p.Arg562Cys) rs145006355 0.00009
NM_020458.4(TTC7A):c.1705C>T (p.Leu569Phe) rs772552000 0.00009
NM_020458.4(TTC7A):c.2225C>G (p.Pro742Arg) rs143675924 0.00009
NM_020458.4(TTC7A):c.2407C>T (p.Arg803Cys) rs374843304 0.00009
NM_020458.4(TTC7A):c.2445G>A (p.Ala815=) rs538187043 0.00009
NM_020458.4(TTC7A):c.692C>T (p.Pro231Leu) rs367648748 0.00009
NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln) rs200332198 0.00009
NM_020458.4(TTC7A):c.2126C>T (p.Thr709Met) rs376309617 0.00007
NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val) rs748142531 0.00007
NM_020458.4(TTC7A):c.1803-11C>T rs779327982 0.00006
NM_020458.4(TTC7A):c.2017+9G>A rs370376585 0.00006
NM_020458.4(TTC7A):c.2433G>A (p.Thr811=) rs549236013 0.00006
NM_020458.4(TTC7A):c.2439C>T (p.His813=) rs145740358 0.00006
NM_020458.4(TTC7A):c.2514C>T (p.Thr838=) rs200826158 0.00006
NM_020458.4(TTC7A):c.427A>G (p.Met143Val) rs762713132 0.00006
NM_020458.4(TTC7A):c.432C>T (p.Tyr144=) rs767549499 0.00006
NM_020458.4(TTC7A):c.453C>T (p.Asp151=) rs201840479 0.00006
NM_020458.4(TTC7A):c.462G>A (p.Met154Ile) rs148261355 0.00006
NM_020458.4(TTC7A):c.488G>A (p.Arg163Gln) rs781503883 0.00006
NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys) rs544316606 0.00006
NM_020458.4(TTC7A):c.718C>G (p.Leu240Val) rs144671396 0.00006
NM_020458.4(TTC7A):c.932T>C (p.Phe311Ser) rs752035389 0.00006
NM_020458.4(TTC7A):c.958G>A (p.Ala320Thr) rs756596268 0.00006
NM_020458.4(TTC7A):c.1560G>A (p.Thr520=) rs372796290 0.00005
NM_020458.4(TTC7A):c.162A>G (p.Ala54=) rs776259833 0.00005
NM_020458.4(TTC7A):c.1849G>C (p.Glu617Gln) rs376138112 0.00005
NM_020458.4(TTC7A):c.2183A>G (p.Lys728Arg) rs143687375 0.00005
NM_020458.4(TTC7A):c.2210C>T (p.Ala737Val) rs150405237 0.00005
NM_020458.4(TTC7A):c.2274G>C (p.Lys758Asn) rs771994498 0.00005
NM_020458.4(TTC7A):c.2550C>T (p.Pro850=) rs780449127 0.00005
NM_020458.4(TTC7A):c.348+12G>A rs777847973 0.00005
NM_020458.4(TTC7A):c.517+14C>G rs770037054 0.00005
NM_020458.4(TTC7A):c.635A>C (p.Gln212Pro) rs145134902 0.00005
NM_020458.4(TTC7A):c.863C>T (p.Ala288Val) rs747695657 0.00005
NM_020458.4(TTC7A):c.1015A>G (p.Lys339Glu) rs370815748 0.00004
NM_020458.4(TTC7A):c.1148A>G (p.Tyr383Cys) rs541556135 0.00004
NM_020458.4(TTC7A):c.1164C>T (p.Ile388=) rs369262649 0.00004
NM_020458.4(TTC7A):c.1446C>T (p.Ala482=) rs955968971 0.00004
NM_020458.4(TTC7A):c.1509C>T (p.Asp503=) rs753851181 0.00004
NM_020458.4(TTC7A):c.1518G>A (p.Leu506=) rs759226270 0.00004
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe) rs749071692 0.00004
NM_020458.4(TTC7A):c.1784_1787del (p.Glu595fs) rs1300446486 0.00004
NM_020458.4(TTC7A):c.1887G>A (p.Leu629=) rs771835099 0.00004
NM_020458.4(TTC7A):c.1944C>T (p.Phe648=) rs200604937 0.00004
NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr) rs367596523 0.00004
NM_020458.4(TTC7A):c.2153-14T>C rs371981287 0.00004
NM_020458.4(TTC7A):c.2214G>A (p.Ala738=) rs369839639 0.00004
NM_020458.4(TTC7A):c.2355+19C>T rs762272685 0.00004
NM_020458.4(TTC7A):c.2356-8G>A rs376434109 0.00004
NM_020458.4(TTC7A):c.2415C>T (p.Ala805=) rs771372965 0.00004
NM_020458.4(TTC7A):c.2435G>A (p.Cys812Tyr) rs866127948 0.00004
NM_020458.4(TTC7A):c.290C>T (p.Pro97Leu) rs145350780 0.00004
NM_020458.4(TTC7A):c.349-12T>C rs370771002 0.00004
NM_020458.4(TTC7A):c.378C>G (p.Ile126Met) rs995588757 0.00004
NM_020458.4(TTC7A):c.408A>G (p.Ser136=) rs772523623 0.00004
NM_020458.4(TTC7A):c.476T>C (p.Leu159Pro) rs775149640 0.00004
NM_020458.4(TTC7A):c.552C>T (p.Ala184=) rs780077700 0.00004
NM_020458.4(TTC7A):c.620C>T (p.Ala207Val) rs778981167 0.00004
NM_020458.4(TTC7A):c.693G>A (p.Pro231=) rs542007144 0.00004
NM_020458.4(TTC7A):c.752A>T (p.Asn251Ile) rs371810821 0.00004
NM_020458.4(TTC7A):c.771C>T (p.Ile257=) rs755109997 0.00004
NM_020458.4(TTC7A):c.908C>G (p.Pro303Arg) rs769792694 0.00004
NM_020458.4(TTC7A):c.102G>C (p.Arg34=) rs1409686440 0.00003
NM_020458.4(TTC7A):c.1203+3A>G rs545951536 0.00003
NM_020458.4(TTC7A):c.1203+9G>A rs201020082 0.00003
NM_020458.4(TTC7A):c.1204-2A>G rs876657392 0.00003
NM_020458.4(TTC7A):c.1331G>A (p.Arg444Gln) rs764574982 0.00003
NM_020458.4(TTC7A):c.1344C>T (p.Pro448=) rs754482689 0.00003
NM_020458.4(TTC7A):c.1347C>T (p.Thr449=) rs374960733 0.00003
NM_020458.4(TTC7A):c.1364C>T (p.Ala455Val) rs201913059 0.00003
NM_020458.4(TTC7A):c.1569-4A>G rs981435309 0.00003
NM_020458.4(TTC7A):c.1600G>A (p.Val534Ile) rs779782772 0.00003
NM_020458.4(TTC7A):c.1640A>G (p.Gln547Arg) rs377335030 0.00003
NM_020458.4(TTC7A):c.1641+4G>A rs779771506 0.00003
NM_020458.4(TTC7A):c.1642-16C>T rs375063813 0.00003
NM_020458.4(TTC7A):c.1917G>T (p.Leu639=) rs763222341 0.00003
NM_020458.4(TTC7A):c.2017+8C>T rs367595962 0.00003
NM_020458.4(TTC7A):c.2050C>T (p.Arg684Trp) rs368826418 0.00003
NM_020458.4(TTC7A):c.2107C>T (p.Pro703Ser) rs749594871 0.00003
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967 0.00003
NM_020458.4(TTC7A):c.2241A>G (p.Val747=) rs752874925 0.00003
NM_020458.4(TTC7A):c.2338C>T (p.Arg780Cys) rs777474719 0.00003
NM_020458.4(TTC7A):c.2356-9C>T rs373276280 0.00003
NM_020458.4(TTC7A):c.2408G>A (p.Arg803His) rs146165942 0.00003
NM_020458.4(TTC7A):c.2461G>A (p.Glu821Lys) rs771426124 0.00003
NM_020458.4(TTC7A):c.262T>C (p.Ser88Pro) rs749883233 0.00003
NM_020458.4(TTC7A):c.280A>C (p.Lys94Gln) rs766411601 0.00003
NM_020458.4(TTC7A):c.618C>T (p.Ile206=) rs770250064 0.00003
NM_020458.4(TTC7A):c.765-14C>T rs767354746 0.00003
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_020458.4(TTC7A):c.844-7C>G rs765541604 0.00003
NM_020458.4(TTC7A):c.969C>G (p.Ala323=) rs139339890 0.00003
NM_020458.4(TTC7A):c.1001+12C>T rs746964282 0.00002
NM_020458.4(TTC7A):c.1002-16C>T rs772273957 0.00002
NM_020458.4(TTC7A):c.1016A>G (p.Lys339Arg) rs777088531 0.00002
NM_020458.4(TTC7A):c.1056C>T (p.Ser352=) rs887426063 0.00002
NM_020458.4(TTC7A):c.1098G>A (p.Pro366=) rs368215180 0.00002
NM_020458.4(TTC7A):c.1183C>G (p.Gln395Glu) rs556624885 0.00002
NM_020458.4(TTC7A):c.1209G>A (p.Leu403=) rs371480526 0.00002
NM_020458.4(TTC7A):c.1388G>A (p.Arg463His) rs761123950 0.00002
NM_020458.4(TTC7A):c.1419G>A (p.Met473Ile) rs751253516 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020458.4(TTC7A):c.1455C>T (p.Phe485=) rs747356513 0.00002
NM_020458.4(TTC7A):c.1506C>T (p.Thr502=) rs534000380 0.00002
NM_020458.4(TTC7A):c.1544G>A (p.Arg515Gln) rs762902490 0.00002
NM_020458.4(TTC7A):c.1584G>A (p.Ala528=) rs761294322 0.00002
NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr) rs963602999 0.00002
NM_020458.4(TTC7A):c.1701C>T (p.His567=) rs375117959 0.00002
NM_020458.4(TTC7A):c.1803-12C>A rs768399184 0.00002
NM_020458.4(TTC7A):c.1978A>T (p.Met660Leu) rs375666264 0.00002
NM_020458.4(TTC7A):c.2018-1G>C rs948534045 0.00002
NM_020458.4(TTC7A):c.2153-10G>C rs375320678 0.00002
NM_020458.4(TTC7A):c.2153-12C>G rs750558169 0.00002
NM_020458.4(TTC7A):c.2256C>T (p.Gly752=) rs1401751108 0.00002
NM_020458.4(TTC7A):c.2318C>T (p.Thr773Met) rs757752980 0.00002
NM_020458.4(TTC7A):c.2335G>A (p.Val779Met) rs758051924 0.00002
NM_020458.4(TTC7A):c.2355+13C>A rs376777040 0.00002
NM_020458.4(TTC7A):c.2488G>A (p.Glu830Lys) rs375318915 0.00002
NM_020458.4(TTC7A):c.291G>A (p.Pro97=) rs768316317 0.00002
NM_020458.4(TTC7A):c.348+17C>T rs747141396 0.00002
NM_020458.4(TTC7A):c.348+9T>C rs368365011 0.00002
NM_020458.4(TTC7A):c.349-8C>T rs374828712 0.00002
NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys) rs775389933 0.00002
NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu) rs752931401 0.00002
NM_020458.4(TTC7A):c.570A>G (p.Thr190=) rs565292434 0.00002
NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr) rs762989436 0.00002
NM_020458.4(TTC7A):c.668C>T (p.Ser223Leu) rs267599393 0.00002
NM_020458.4(TTC7A):c.805C>T (p.Arg269Trp) rs779629005 0.00002
NM_020458.4(TTC7A):c.848C>T (p.Ala283Val) rs752828560 0.00002
NM_020458.4(TTC7A):c.849G>A (p.Ala283=) rs763190482 0.00002
NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu) rs750887765 0.00002
NM_020458.4(TTC7A):c.973C>T (p.Arg325Trp) rs777393270 0.00002
NM_020458.4(TTC7A):c.989A>G (p.Tyr330Cys) rs745812496 0.00002
NM_020458.4(TTC7A):c.1001+3A>G rs1312976035 0.00001
NM_020458.4(TTC7A):c.1001+9T>C rs1675962842 0.00001
NM_020458.4(TTC7A):c.1007A>C (p.Tyr336Ser) rs1250983100 0.00001
NM_020458.4(TTC7A):c.1012C>G (p.Pro338Ala) rs542818351 0.00001
NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln) rs1156510458 0.00001
NM_020458.4(TTC7A):c.1042C>G (p.Leu348Val) rs374367961 0.00001
NM_020458.4(TTC7A):c.1063A>G (p.Met355Val) rs368018528 0.00001
NM_020458.4(TTC7A):c.1090C>T (p.Arg364Trp) rs746226404 0.00001
NM_020458.4(TTC7A):c.1097C>T (p.Pro366Leu) rs772539826 0.00001
NM_020458.4(TTC7A):c.1141G>A (p.Ala381Thr) rs751523740 0.00001
NM_020458.4(TTC7A):c.1144A>G (p.Ile382Val) rs757541124 0.00001
NM_020458.4(TTC7A):c.1188C>T (p.Tyr396=) rs749892467 0.00001
NM_020458.4(TTC7A):c.1190T>A (p.Val397Asp) rs374669143 0.00001
NM_020458.4(TTC7A):c.1200G>A (p.Ser400=) rs762949675 0.00001
NM_020458.4(TTC7A):c.1203+13A>G rs199621267 0.00001
NM_020458.4(TTC7A):c.1214G>A (p.Arg405Gln) rs768367263 0.00001
NM_020458.4(TTC7A):c.1230G>A (p.Ala410=) rs370371832 0.00001
NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala) rs865919847 0.00001
NM_020458.4(TTC7A):c.1287+9C>T rs1677447803 0.00001
NM_020458.4(TTC7A):c.1296C>T (p.Tyr432=) rs746938326 0.00001
NM_020458.4(TTC7A):c.12G>A (p.Lys4=) rs1274237789 0.00001
NM_020458.4(TTC7A):c.1313G>A (p.Arg438Gln) rs745944262 0.00001
NM_020458.4(TTC7A):c.132C>T (p.Gly44=) rs1403661278 0.00001
NM_020458.4(TTC7A):c.1330C>T (p.Arg444Trp) rs763226871 0.00001
NM_020458.4(TTC7A):c.1335C>T (p.Pro445=) rs1678029487 0.00001
NM_020458.4(TTC7A):c.1338G>A (p.Ser446=) rs768056090 0.00001
NM_020458.4(TTC7A):c.1362C>T (p.Ala454=) rs1351341629 0.00001
NM_020458.4(TTC7A):c.1382C>T (p.Ser461Phe) rs142490773 0.00001
NM_020458.4(TTC7A):c.1392+3G>A rs1299979956 0.00001
NM_020458.4(TTC7A):c.1426A>G (p.Ile476Val) rs966188725 0.00001
NM_020458.4(TTC7A):c.1429A>T (p.Ser477Cys) rs372476224 0.00001
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg) rs1288910906 0.00001
NM_020458.4(TTC7A):c.1511-8C>G rs746661224 0.00001
NM_020458.4(TTC7A):c.1568+3G>A rs767713361 0.00001
NM_020458.4(TTC7A):c.1577A>G (p.Gln526Arg) rs113327144 0.00001
NM_020458.4(TTC7A):c.1583C>T (p.Ala528Val) rs745524400 0.00001
NM_020458.4(TTC7A):c.1589G>A (p.Ser530Asn) rs1679634989 0.00001
NM_020458.4(TTC7A):c.1614C>T (p.Val538=) rs200124779 0.00001
NM_020458.4(TTC7A):c.1616C>T (p.Ser539Leu) rs776906926 0.00001
NM_020458.4(TTC7A):c.1621C>T (p.Gln541Ter) rs765653721 0.00001
NM_020458.4(TTC7A):c.1641+11C>T rs773220247 0.00001
NM_020458.4(TTC7A):c.1642-4A>G rs1488211803 0.00001
NM_020458.4(TTC7A):c.1651G>T (p.Ala551Ser) rs752527109 0.00001
NM_020458.4(TTC7A):c.1689G>A (p.Lys563=) rs770191427 0.00001
NM_020458.4(TTC7A):c.1699C>T (p.His567Tyr) rs1301420520 0.00001
NM_020458.4(TTC7A):c.1746C>T (p.His582=) rs1190370481 0.00001
NM_020458.4(TTC7A):c.1782C>T (p.Thr594=) rs780233999 0.00001
NM_020458.4(TTC7A):c.1783G>T (p.Glu595Ter) rs201481224 0.00001
NM_020458.4(TTC7A):c.1824G>A (p.Lys608=) rs547770140 0.00001
NM_020458.4(TTC7A):c.1839G>A (p.Leu613=) rs1410698111 0.00001
NM_020458.4(TTC7A):c.184+7A>C rs573720504 0.00001
NM_020458.4(TTC7A):c.1844G>T (p.Gly615Val) rs1322909698 0.00001
NM_020458.4(TTC7A):c.1866C>A (p.Thr622=) rs746346812 0.00001
NM_020458.4(TTC7A):c.1915C>G (p.Leu639Val) rs144998751 0.00001
NM_020458.4(TTC7A):c.1919+869C>T rs1230826905 0.00001
NM_020458.4(TTC7A):c.1920-4C>G rs376383856 0.00001
NM_020458.4(TTC7A):c.1945G>A (p.Gly649Ser) rs751063430 0.00001
NM_020458.4(TTC7A):c.1953C>T (p.Gly651=) rs1682709750 0.00001
NM_020458.4(TTC7A):c.1956C>T (p.Leu652=) rs1482937341 0.00001
NM_020458.4(TTC7A):c.1960A>G (p.Met654Val) rs750008360 0.00001
NM_020458.4(TTC7A):c.2000C>T (p.Ala667Val) rs561491427 0.00001
NM_020458.4(TTC7A):c.2021C>T (p.Ser674Phe) rs1407425017 0.00001
NM_020458.4(TTC7A):c.2023C>T (p.Arg675Trp) rs767059858 0.00001
NM_020458.4(TTC7A):c.2044G>A (p.Ala682Thr) rs559596886 0.00001
NM_020458.4(TTC7A):c.2067G>A (p.Met689Ile) rs1387193729 0.00001
NM_020458.4(TTC7A):c.2081T>C (p.Met694Thr) rs368507641 0.00001
NM_020458.4(TTC7A):c.2087C>T (p.Ser696Phe) rs758407638 0.00001
NM_020458.4(TTC7A):c.2097G>C (p.Leu699=) rs746097698 0.00001
NM_020458.4(TTC7A):c.2105G>A (p.Gly702Asp) rs780527277 0.00001
NM_020458.4(TTC7A):c.2109C>T (p.Pro703=) rs144816809 0.00001
NM_020458.4(TTC7A):c.2165T>C (p.Met722Thr) rs1359515935 0.00001
NM_020458.4(TTC7A):c.2187A>G (p.Glu729=) rs374828304 0.00001
NM_020458.4(TTC7A):c.2193T>C (p.Gly731=) rs748964105 0.00001
NM_020458.4(TTC7A):c.2244C>G (p.Leu748=) rs1306445913 0.00001
NM_020458.4(TTC7A):c.2245T>C (p.Tyr749His) rs1315222428 0.00001
NM_020458.4(TTC7A):c.2251C>T (p.Arg751Trp) rs531344750 0.00001
NM_020458.4(TTC7A):c.2257C>T (p.Arg753Trp) rs747509395 0.00001
NM_020458.4(TTC7A):c.2294A>C (p.Lys765Thr) rs1209150485 0.00001
NM_020458.4(TTC7A):c.2312C>T (p.Ala771Val) rs538380438 0.00001
NM_020458.4(TTC7A):c.2339G>A (p.Arg780His) rs746784091 0.00001
NM_020458.4(TTC7A):c.2372G>A (p.Arg791Gln) rs763453786 0.00001
NM_020458.4(TTC7A):c.2388C>T (p.Ser796=) rs370786690 0.00001
NM_020458.4(TTC7A):c.2416G>A (p.Val806Met) rs777208348 0.00001
NM_020458.4(TTC7A):c.2426A>G (p.Gln809Arg) rs1406499363 0.00001
NM_020458.4(TTC7A):c.2443G>T (p.Ala815Ser) rs779096998 0.00001
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro) rs587776972 0.00001
NM_020458.4(TTC7A):c.246T>C (p.His82=) rs368496761 0.00001
NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr) rs876657393 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 0.00001
NM_020458.4(TTC7A):c.2517C>T (p.Ala839=) rs751895973 0.00001
NM_020458.4(TTC7A):c.2534G>A (p.Ser845Asn) rs1334106336 0.00001
NM_020458.4(TTC7A):c.2545C>T (p.Leu849=) rs746188502 0.00001
NM_020458.4(TTC7A):c.2560A>G (p.Ile854Val) rs1412412264 0.00001
NM_020458.4(TTC7A):c.2564C>G (p.Pro855Arg) rs750794132 0.00001
NM_020458.4(TTC7A):c.2566A>G (p.Arg856Gly) rs1426525943 0.00001
NM_020458.4(TTC7A):c.266T>A (p.Met89Lys) rs755771170 0.00001
NM_020458.4(TTC7A):c.275T>C (p.Leu92Pro) rs1462879647 0.00001
NM_020458.4(TTC7A):c.308A>G (p.Lys103Arg) rs1385338357 0.00001
NM_020458.4(TTC7A):c.336T>G (p.His112Gln) rs750006009 0.00001
NM_020458.4(TTC7A):c.348+4A>G rs1417579293 0.00001
NM_020458.4(TTC7A):c.396C>T (p.Tyr132=) rs780299149 0.00001
NM_020458.4(TTC7A):c.397G>A (p.Val133Met) rs749546800 0.00001
NM_020458.4(TTC7A):c.436C>T (p.Arg146Trp) rs138592761 0.00001
NM_020458.4(TTC7A):c.441C>T (p.Ala147=) rs1023666481 0.00001
NM_020458.4(TTC7A):c.442G>A (p.Gly148Arg) rs200447823 0.00001
NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr) rs550715352 0.00001
NM_020458.4(TTC7A):c.450T>C (p.Asp150=) rs748520590 0.00001
NM_020458.4(TTC7A):c.460A>G (p.Met154Val) rs778183105 0.00001
NM_020458.4(TTC7A):c.473C>A (p.Pro158His) rs1242924176 0.00001
NM_020458.4(TTC7A):c.483G>A (p.Gln161=) rs528257900 0.00001
NM_020458.4(TTC7A):c.487C>T (p.Arg163Trp) rs767380906 0.00001
NM_020458.4(TTC7A):c.490C>T (p.Leu164=) rs149634302 0.00001
NM_020458.4(TTC7A):c.518-10C>A rs201534336 0.00001
NM_020458.4(TTC7A):c.518-5C>T rs755470255 0.00001
NM_020458.4(TTC7A):c.518-6C>T rs754270867 0.00001
NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp) rs1283566399 0.00001
NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln) rs1177931649 0.00001
NM_020458.4(TTC7A):c.569C>T (p.Thr190Ile) rs761142818 0.00001
NM_020458.4(TTC7A):c.576G>A (p.Arg192=) rs1446257636 0.00001
NM_020458.4(TTC7A):c.607G>A (p.Ala203Thr) rs767203972 0.00001
NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly) rs1315722693 0.00001
NM_020458.4(TTC7A):c.624G>T (p.Gln208His) rs748288040 0.00001
NM_020458.4(TTC7A):c.627G>A (p.Val209=) rs775710013 0.00001
NM_020458.4(TTC7A):c.649-11T>C rs763466675 0.00001
NM_020458.4(TTC7A):c.649-4C>T rs1467377884 0.00001
NM_020458.4(TTC7A):c.650C>A (p.Thr217Asn) rs372046395 0.00001
NM_020458.4(TTC7A):c.665C>T (p.Thr222Met) rs759227495 0.00001
NM_020458.4(TTC7A):c.669G>A (p.Ser223=) rs777759191 0.00001
NM_020458.4(TTC7A):c.701A>G (p.Tyr234Cys) rs749650681 0.00001
NM_020458.4(TTC7A):c.708C>T (p.Leu236=) rs774899455 0.00001
NM_020458.4(TTC7A):c.739G>A (p.Ala247Thr) rs752603355 0.00001
NM_020458.4(TTC7A):c.73C>T (p.His25Tyr) rs910842442 0.00001
NM_020458.4(TTC7A):c.764+16T>C rs957545781 0.00001
NM_020458.4(TTC7A):c.781A>G (p.Met261Val) rs745417467 0.00001
NM_020458.4(TTC7A):c.837C>A (p.Phe279Leu) rs760569935 0.00001
NM_020458.4(TTC7A):c.841G>C (p.Val281Leu) rs147514908 0.00001
NM_020458.4(TTC7A):c.843+13G>A rs753160406 0.00001
NM_020458.4(TTC7A):c.843+19A>G rs202113510 0.00001
NM_020458.4(TTC7A):c.844-1G>T rs777469885 0.00001
NM_020458.4(TTC7A):c.844-7C>T rs765541604 0.00001
NM_020458.4(TTC7A):c.854A>G (p.Lys285Arg) rs1178621550 0.00001
NM_020458.4(TTC7A):c.864G>A (p.Ala288=) rs1413098454 0.00001
NM_020458.4(TTC7A):c.895T>A (p.Cys299Ser) rs1198449310 0.00001
NM_020458.4(TTC7A):c.957C>T (p.Phe319=) rs750924480 0.00001
NM_020458.4(TTC7A):c.984C>T (p.His328=) rs1226296178 0.00001
NM_020458.4(TTC7A):c.985C>T (p.Leu329Phe) rs1191771886 0.00001
NM_020458.4(TTC7A):c.995G>A (p.Gly332Glu) rs1171967462 0.00001
NC_000002.11:g.(?_47132602)_(47177685_?)dup
NC_000002.11:g.(?_47132602)_(47206066_?)del
NC_000002.11:g.(?_47132602)_(47206066_?)dup
NC_000002.11:g.(?_47168661)_(47238594_?)del
NC_000002.11:g.(?_47177482)_(47301062_?)del
NC_000002.11:g.(?_47202092)_(47206066_?)del
NC_000002.11:g.(?_47256343)_(47301082_?)dup
NC_000002.11:g.(?_47256343)_(47397923_?)dup
NC_000002.12:g.(?_47073682)_(47073943_?)dup
NM_001288951.1(TTC7A):c.[1616C>T];[2587G>A]
NM_001288953.1(TTC7A):c.[1715A>G;1912T>C]
NM_020458.4(TTC7A):c.1001+14G>T
NM_020458.4(TTC7A):c.1001+15C>A
NM_020458.4(TTC7A):c.1001+16C>T
NM_020458.4(TTC7A):c.1001+20C>G
NM_020458.4(TTC7A):c.1001+20C>T
NM_020458.4(TTC7A):c.1001+3_1001+6del rs587776971
NM_020458.4(TTC7A):c.1001+5G>C rs1359277811
NM_020458.4(TTC7A):c.1002-11G>C
NM_020458.4(TTC7A):c.1008C>G (p.Tyr336Ter) rs587777548
NM_020458.4(TTC7A):c.1018dup (p.Asp340fs) rs762504554
NM_020458.4(TTC7A):c.1021A>C (p.Asn341His) rs1343390351
NM_020458.4(TTC7A):c.1024A>T (p.Ile342Phe) rs149020036
NM_020458.4(TTC7A):c.1026C>G (p.Ile342Met) rs151317740
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020458.4(TTC7A):c.1027G>A (p.Glu343Lys) rs746446061
NM_020458.4(TTC7A):c.1036C>T (p.Leu346Phe) rs750241083
NM_020458.4(TTC7A):c.1038C>G (p.Leu346=) rs1676052601
NM_020458.4(TTC7A):c.1038C>T (p.Leu346=)
NM_020458.4(TTC7A):c.1039dup (p.Leu347fs) rs1572849873
NM_020458.4(TTC7A):c.1057G>A (p.Glu353Lys)
NM_020458.4(TTC7A):c.1066-18_1066-15del rs781771977
NM_020458.4(TTC7A):c.106C>T (p.Leu36=)
NM_020458.4(TTC7A):c.1072C>T (p.Arg358Ter) rs1297794582
NM_020458.4(TTC7A):c.1073G>T (p.Arg358Leu) rs752771480
NM_020458.4(TTC7A):c.1074A>C (p.Arg358=) rs777671248
NM_020458.4(TTC7A):c.108G>C (p.Leu36=)
NM_020458.4(TTC7A):c.1090C>A (p.Arg364=)
NM_020458.4(TTC7A):c.1125C>A (p.Ser375Arg) rs144037049
NM_020458.4(TTC7A):c.1132A>T (p.Asn378Tyr) rs1677332012
NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg) rs1179064463
NM_020458.4(TTC7A):c.113C>T (p.Thr38Met) rs1179064463
NM_020458.4(TTC7A):c.1140A>G (p.Ala380=) rs2104453333
NM_020458.4(TTC7A):c.1144A>T (p.Ile382Phe) rs757541124
NM_020458.4(TTC7A):c.1151A>T (p.Asp384Val)
NM_020458.4(TTC7A):c.1158G>C (p.Leu386=) rs749815879
NM_020458.4(TTC7A):c.1167G>A (p.Thr389=) rs201028512
NM_020458.4(TTC7A):c.1194G>T (p.Met398Ile) rs1677341409
NM_020458.4(TTC7A):c.1196T>C (p.Leu399Pro) rs2104453742
NM_020458.4(TTC7A):c.1203+10G>T
NM_020458.4(TTC7A):c.1203+16_1203+30delinsACGTACTG rs2104453963
NM_020458.4(TTC7A):c.1203+17_1203+23del
NM_020458.4(TTC7A):c.1203+5G>A
NM_020458.4(TTC7A):c.1203+8C>G
NM_020458.4(TTC7A):c.1204-15A>G
NM_020458.4(TTC7A):c.1204-4C>T
NM_020458.4(TTC7A):c.1204-6C>G
NM_020458.4(TTC7A):c.1211A>C (p.Glu404Ala)
NM_020458.4(TTC7A):c.1212G>A (p.Glu404=)
NM_020458.4(TTC7A):c.1213C>T (p.Arg405Ter) rs779549457
NM_020458.4(TTC7A):c.1228G>A (p.Ala410Thr) rs1677434974
NM_020458.4(TTC7A):c.1229C>T (p.Ala410Val)
NM_020458.4(TTC7A):c.1250G>A (p.Trp417Ter) rs1558568116
NM_020458.4(TTC7A):c.1258G>T (p.Val420Leu)
NM_020458.4(TTC7A):c.1266C>A (p.Leu422=) rs765529675
NM_020458.4(TTC7A):c.1281_1282insTT (p.Gly428fs)
NM_020458.4(TTC7A):c.1287+10A>T
NM_020458.4(TTC7A):c.1287+17G>A
NM_020458.4(TTC7A):c.1287+1del rs2104457522
NM_020458.4(TTC7A):c.1288-13T>C
NM_020458.4(TTC7A):c.1288-19C>T
NM_020458.4(TTC7A):c.1288-1G>T rs568082272
NM_020458.4(TTC7A):c.1288-20C>G
NM_020458.4(TTC7A):c.1288-20C>T
NM_020458.4(TTC7A):c.1288-3C>T rs2104485027
NM_020458.4(TTC7A):c.1288-4G>A
NM_020458.4(TTC7A):c.1293C>T (p.Ala431=)
NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn) rs1274237789
NM_020458.4(TTC7A):c.1317G>C (p.Glu439Asp) rs991295194
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs) rs762466884
NM_020458.4(TTC7A):c.1331G>C (p.Arg444Pro) rs764574982
NM_020458.4(TTC7A):c.1333_1334delinsGT (p.Pro445Val) rs2104485354
NM_020458.4(TTC7A):c.1345A>G (p.Thr449Ala)
NM_020458.4(TTC7A):c.1355dup (p.Met453fs) rs2104485613
NM_020458.4(TTC7A):c.1358T>C (p.Met453Thr) rs1558574754
NM_020458.4(TTC7A):c.1363G>T (p.Ala455Ser) rs147112070
NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)
NM_020458.4(TTC7A):c.1373G>A (p.Cys458Tyr) rs995063781
NM_020458.4(TTC7A):c.1381T>C (p.Ser461Pro)
NM_020458.4(TTC7A):c.1383C>A (p.Ser461=)
NM_020458.4(TTC7A):c.1392+16G>C
NM_020458.4(TTC7A):c.1392+7G>A
NM_020458.4(TTC7A):c.1392+7G>C
NM_020458.4(TTC7A):c.1393-10C>T
NM_020458.4(TTC7A):c.1393-10_1393-8del
NM_020458.4(TTC7A):c.1393-13C>G
NM_020458.4(TTC7A):c.1393-16TC[2]
NM_020458.4(TTC7A):c.1393-17G>T
NM_020458.4(TTC7A):c.1393-4G>A
NM_020458.4(TTC7A):c.1397A>G (p.Glu466Gly) rs1249228239
NM_020458.4(TTC7A):c.1407G>A (p.Glu469=)
NM_020458.4(TTC7A):c.1414G>C (p.Ala472Pro) rs2104548111
NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys) rs1454748257
NM_020458.4(TTC7A):c.1425G>T (p.Val475=) rs1679327755
NM_020458.4(TTC7A):c.1434C>A (p.Leu478=) rs113261858
NM_020458.4(TTC7A):c.1434C>T (p.Leu478=)
NM_020458.4(TTC7A):c.1450G>T (p.Glu484Ter)
NM_020458.4(TTC7A):c.145C>A (p.Arg49=)
NM_020458.4(TTC7A):c.1462A>G (p.Lys488Glu)
NM_020458.4(TTC7A):c.1476T>C (p.Ala492=) rs2104548670
NM_020458.4(TTC7A):c.1481del (p.Gly494fs) rs587777549
NM_020458.4(TTC7A):c.1485C>T (p.Leu495=)
NM_020458.4(TTC7A):c.1493G>C (p.Ser498Thr)
NM_020458.4(TTC7A):c.1497G>T (p.Leu499=)
NM_020458.4(TTC7A):c.1509C>G (p.Asp503Glu)
NM_020458.4(TTC7A):c.1510+100_1510+108del
NM_020458.4(TTC7A):c.1510+105T>A rs587777551
NM_020458.4(TTC7A):c.1510+20A>G
NM_020458.4(TTC7A):c.1510+2T>C
NM_020458.4(TTC7A):c.1511-15T>A
NM_020458.4(TTC7A):c.1511-18C>G
NM_020458.4(TTC7A):c.1511-8C>A
NM_020458.4(TTC7A):c.1511-9C>G rs200911031
NM_020458.4(TTC7A):c.1511-9C>T rs200911031
NM_020458.4(TTC7A):c.1512C>G (p.Ala504=) rs911985240
NM_020458.4(TTC7A):c.1516C>T (p.Leu506=)
NM_020458.4(TTC7A):c.1528C>T (p.Gln510Ter)
NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)
NM_020458.4(TTC7A):c.1546A>G (p.Lys516Glu) rs1679514263
NM_020458.4(TTC7A):c.1549G>A (p.Ala517Thr) rs982437690
NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr) rs906523542
NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala) rs906523542
NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)
NM_020458.4(TTC7A):c.1551A>G (p.Ala517=) rs2104557169
NM_020458.4(TTC7A):c.1553T>C (p.Leu518Pro) rs1679515226
NM_020458.4(TTC7A):c.1568+19G>A
NM_020458.4(TTC7A):c.1568+19G>T
NM_020458.4(TTC7A):c.1568+9G>A rs938180083
NM_020458.4(TTC7A):c.1569-14C>G
NM_020458.4(TTC7A):c.1569-7C>G rs368266789
NM_020458.4(TTC7A):c.1571C>A (p.Ala524Asp)
NM_020458.4(TTC7A):c.1571C>T (p.Ala524Val)
NM_020458.4(TTC7A):c.1574A>G (p.Gln525Arg)
NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) rs786205698
NM_020458.4(TTC7A):c.1587C>T (p.Pro529=)
NM_020458.4(TTC7A):c.1588A>G (p.Ser530Gly) rs1679634498
NM_020458.4(TTC7A):c.1598A>C (p.Gln533Pro) rs1572943765
NM_020458.4(TTC7A):c.15C>T (p.Gly5=)
NM_020458.4(TTC7A):c.1605C>T (p.Ile535=)
NM_020458.4(TTC7A):c.1610A>G (p.Tyr537Cys)
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
NM_020458.4(TTC7A):c.1632C>G (p.Leu544=)
NM_020458.4(TTC7A):c.1635C>T (p.Val545=)
NM_020458.4(TTC7A):c.1637G>A (p.Arg546Gln) rs180673878
NM_020458.4(TTC7A):c.1641+12G>A rs11885389
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020458.4(TTC7A):c.1641+1G>A
NM_020458.4(TTC7A):c.1641+3G>A rs370452371
NM_020458.4(TTC7A):c.1641+8G>T
NM_020458.4(TTC7A):c.1642-10C>T rs759243328
NM_020458.4(TTC7A):c.1642-11T>C
NM_020458.4(TTC7A):c.1642-15G>A
NM_020458.4(TTC7A):c.1644C>T (p.Ile548=) rs969064006
NM_020458.4(TTC7A):c.1653C>G (p.Ala551=)
NM_020458.4(TTC7A):c.1654A>T (p.Met552Leu)
NM_020458.4(TTC7A):c.1656G>C (p.Met552Ile)
NM_020458.4(TTC7A):c.1662G>A (p.Gln554=)
NM_020458.4(TTC7A):c.1663C>T (p.Leu555=)
NM_020458.4(TTC7A):c.1673_1674insG (p.Leu559fs) rs587777550
NM_020458.4(TTC7A):c.1676T>C (p.Leu559Pro)
NM_020458.4(TTC7A):c.1690G>A (p.Asp564Asn)
NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala) rs1572671568
NM_020458.4(TTC7A):c.1702G>A (p.Ala568Thr) rs774511591
NM_020458.4(TTC7A):c.1713G>C (p.Leu571=)
NM_020458.4(TTC7A):c.1750C>A (p.His584Asn)
NM_020458.4(TTC7A):c.1758G>A (p.Leu586=)
NM_020458.4(TTC7A):c.1758G>C (p.Leu586=)
NM_020458.4(TTC7A):c.1769A>G (p.Asn590Ser) rs1292169635
NM_020458.4(TTC7A):c.176del (p.Pro59fs)
NM_020458.4(TTC7A):c.1773G>A (p.Met591Ile)
NM_020458.4(TTC7A):c.1781C>T (p.Thr594Ile)
NM_020458.4(TTC7A):c.1786C>T (p.His596Tyr)
NM_020458.4(TTC7A):c.1794G>C (p.Glu598Asp)
NM_020458.4(TTC7A):c.1802+13G>A
NM_020458.4(TTC7A):c.1802+17C>T
NM_020458.4(TTC7A):c.1802+20T>C
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
NM_020458.4(TTC7A):c.1802+9C>T
NM_020458.4(TTC7A):c.1803-10G>C rs111758559
NM_020458.4(TTC7A):c.1803-17A>G
NM_020458.4(TTC7A):c.1804C>T (p.Leu602=) rs2104701737
NM_020458.4(TTC7A):c.1806G>A (p.Leu602=)
NM_020458.4(TTC7A):c.1807A>G (p.Met603Val) rs1573016401
NM_020458.4(TTC7A):c.1808T>C (p.Met603Thr) rs571512966
NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)
NM_020458.4(TTC7A):c.1819G>A (p.Val607Met) rs1573016481
NM_020458.4(TTC7A):c.1836G>A (p.Val612=) rs1319104023
NM_020458.4(TTC7A):c.1842A>G (p.Lys614=)
NM_020458.4(TTC7A):c.185-10T>G
NM_020458.4(TTC7A):c.185-13C>T
NM_020458.4(TTC7A):c.185-20A>G
NM_020458.4(TTC7A):c.1857C>T (p.Ala619=)
NM_020458.4(TTC7A):c.1859T>C (p.Leu620Pro) rs1682318934
NM_020458.4(TTC7A):c.1861G>A (p.Val621Met)
NM_020458.4(TTC7A):c.1861G>C (p.Val621Leu) rs201141407
NM_020458.4(TTC7A):c.1863G>T (p.Val621=)
NM_020458.4(TTC7A):c.1866C>G (p.Thr622=) rs746346812
NM_020458.4(TTC7A):c.1869C>A (p.Cys623Ter) rs1682321195
NM_020458.4(TTC7A):c.1881G>A (p.Leu627=) rs2104702306
NM_020458.4(TTC7A):c.1899G>A (p.Leu633=)
NM_020458.4(TTC7A):c.1919+11G>A rs149412946
NM_020458.4(TTC7A):c.1919+11G>C rs149412946
NM_020458.4(TTC7A):c.1919+13C>T
NM_020458.4(TTC7A):c.1919+14A>G
NM_020458.4(TTC7A):c.1919+17G>T
NM_020458.4(TTC7A):c.1919+1G>C rs751311194
NM_020458.4(TTC7A):c.1919+4A>G rs751964737
NM_020458.4(TTC7A):c.1919+5G>A rs1682329057
NM_020458.4(TTC7A):c.191T>A (p.Phe64Tyr)
NM_020458.4(TTC7A):c.1920-19G>A
NM_020458.4(TTC7A):c.1922G>A (p.Gly641Asp) rs1682706568
NM_020458.4(TTC7A):c.1926A>C (p.Leu642=) rs201897539
NM_020458.4(TTC7A):c.192del (p.Phe64fs) rs1476031758
NM_020458.4(TTC7A):c.1959C>A (p.Thr653=) rs1032466747
NM_020458.4(TTC7A):c.1988C>T (p.Thr663Ile) rs1682713994
NM_020458.4(TTC7A):c.2007T>C (p.Asp669=)
NM_020458.4(TTC7A):c.2017+15del
NM_020458.4(TTC7A):c.2017+17T>C rs984862096
NM_020458.4(TTC7A):c.2017+19G>A
NM_020458.4(TTC7A):c.2017+20G>A
NM_020458.4(TTC7A):c.2018-19G>A
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.2018-20C>T
NM_020458.4(TTC7A):c.2018-3C>T rs539326095
NM_020458.4(TTC7A):c.2018-6C>T
NM_020458.4(TTC7A):c.2024G>T (p.Arg675Leu) rs532590528
NM_020458.4(TTC7A):c.2027G>A (p.Arg676Gln)
NM_020458.4(TTC7A):c.2029G>T (p.Ala677Ser)
NM_020458.4(TTC7A):c.202C>T (p.Leu68=) rs923640720
NM_020458.4(TTC7A):c.2038A>G (p.Ile680Val) rs1332051582
NM_020458.4(TTC7A):c.2040C>T (p.Ile680=)
NM_020458.4(TTC7A):c.204G>C (p.Leu68=)
NM_020458.4(TTC7A):c.2052G>C (p.Arg684=)
NM_020458.4(TTC7A):c.2057A>T (p.Glu686Val)
NM_020458.4(TTC7A):c.2066T>C (p.Met689Thr)
NM_020458.4(TTC7A):c.2076G>C (p.Leu692=) rs1406561730
NM_020458.4(TTC7A):c.2087C>G (p.Ser696Cys) rs758407638
NM_020458.4(TTC7A):c.2091G>C (p.Ser697=)
NM_020458.4(TTC7A):c.2103G>C (p.Gln701His) rs2104732951
NM_020458.4(TTC7A):c.2106C>T (p.Gly702=) rs2104732976
NM_020458.4(TTC7A):c.2109del (p.Met704fs)
NM_020458.4(TTC7A):c.2143C>A (p.Leu715Met) rs1361238141
NM_020458.4(TTC7A):c.2146C>T (p.Gln716Ter) rs762685822
NM_020458.4(TTC7A):c.2152+15C>G
NM_020458.4(TTC7A):c.2152+19G>A
NM_020458.4(TTC7A):c.2152+7G>A rs1438887727
NM_020458.4(TTC7A):c.2152+8C>G rs570803123
NM_020458.4(TTC7A):c.2153-9C>A rs760701452
NM_020458.4(TTC7A):c.2158C>G (p.Leu720Val) rs1683706187
NM_020458.4(TTC7A):c.2160G>A (p.Leu720=)
NM_020458.4(TTC7A):c.2163C>G (p.Phe721Leu) rs1011519119
NM_020458.4(TTC7A):c.2178C>T (p.His726=)
NM_020458.4(TTC7A):c.2189C>G (p.Ala730Gly) rs779553048
NM_020458.4(TTC7A):c.2192G>A (p.Gly731Asp)
NM_020458.4(TTC7A):c.2197T>C (p.Cys733Arg)
NM_020458.4(TTC7A):c.2199C>T (p.Cys733=)
NM_020458.4(TTC7A):c.21C>T (p.His7=)
NM_020458.4(TTC7A):c.2205G>C (p.Gln735His)
NM_020458.4(TTC7A):c.2213C>T (p.Ala738Val)
NM_020458.4(TTC7A):c.2214G>T (p.Ala738=)
NM_020458.4(TTC7A):c.2222T>C (p.Phe741Ser)
NM_020458.4(TTC7A):c.2223C>T (p.Phe741=)
NM_020458.4(TTC7A):c.2229T>C (p.Thr743=)
NM_020458.4(TTC7A):c.2231C>A (p.Ser744Tyr) rs759803354
NM_020458.4(TTC7A):c.2233C>G (p.His745Asp) rs765413715
NM_020458.4(TTC7A):c.2237C>T (p.Ser746Leu)
NM_020458.4(TTC7A):c.2246A>C (p.Tyr749Ser) rs200237098
NM_020458.4(TTC7A):c.2248A>G (p.Met750Val) rs1261534519
NM_020458.4(TTC7A):c.2250G>T (p.Met750Ile)
NM_020458.4(TTC7A):c.2252G>A (p.Arg751Gln)
NM_020458.4(TTC7A):c.2260C>T (p.Leu754=)
NM_020458.4(TTC7A):c.2264del (p.Ala755fs)
NM_020458.4(TTC7A):c.226C>T (p.Gln76Ter)
NM_020458.4(TTC7A):c.2270T>C (p.Val757Ala) rs1573067677
NM_020458.4(TTC7A):c.2272A>T (p.Lys758Ter)
NM_020458.4(TTC7A):c.2274G>A (p.Lys758=)
NM_020458.4(TTC7A):c.2275G>A (p.Gly759Ser) rs1422354897
NM_020458.4(TTC7A):c.2282T>C (p.Leu761Pro) rs1683726116
NM_020458.4(TTC7A):c.2306A>G (p.Lys769Arg) rs775700661
NM_020458.4(TTC7A):c.2325C>G (p.Asn775Lys)
NM_020458.4(TTC7A):c.2334C>T (p.Gly778=)
NM_020458.4(TTC7A):c.2355+12C>T
NM_020458.4(TTC7A):c.2355+15C>T rs2104780015
NM_020458.4(TTC7A):c.2355+16C>T
NM_020458.4(TTC7A):c.2355+17C>G rs775545154
NM_020458.4(TTC7A):c.2355+17C>T
NM_020458.4(TTC7A):c.2355+18G>A
NM_020458.4(TTC7A):c.2355+18_2355+19delinsTT rs2104780079
NM_020458.4(TTC7A):c.2355+7C>T
NM_020458.4(TTC7A):c.2365C>T (p.Leu789=)
NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs) rs2103674254
NM_020458.4(TTC7A):c.2376G>A (p.Leu792=) rs2103674376
NM_020458.4(TTC7A):c.2384dup (p.Ser796fs) rs1684975294
NM_020458.4(TTC7A):c.2385G>C (p.Lys795Asn)
NM_020458.4(TTC7A):c.2407_2408delinsTA (p.Arg803Tyr) rs2103674873
NM_020458.4(TTC7A):c.2408G>T (p.Arg803Leu) rs146165942
NM_020458.4(TTC7A):c.2409T>G (p.Arg803=) rs2103674939
NM_020458.4(TTC7A):c.2412T>C (p.Asp804=)
NM_020458.4(TTC7A):c.2415C>G (p.Ala805=) rs771372965
NM_020458.4(TTC7A):c.2423G>T (p.Arg808Met)
NM_020458.4(TTC7A):c.2455C>T (p.Leu819=)
NM_020458.4(TTC7A):c.2462A>C (p.Glu821Ala) rs1338592596
NM_020458.4(TTC7A):c.2466G>C (p.Val822=) rs2103675905
NM_020458.4(TTC7A):c.2467C>T (p.Leu823=)
NM_020458.4(TTC7A):c.2470C>T (p.Gln824Ter) rs1057516047
NM_020458.4(TTC7A):c.2470dup (p.Gln824fs) rs768053395
NM_020458.4(TTC7A):c.2471A>G (p.Gln824Arg) rs2103676030
NM_020458.4(TTC7A):c.2480G>A (p.Gly827Asp)
NM_020458.4(TTC7A):c.2482C>T (p.Gln828Ter) rs1684987064
NM_020458.4(TTC7A):c.248C>G (p.Ala83Gly) rs145327046
NM_020458.4(TTC7A):c.2497G>A (p.Val833Ile)
NM_020458.4(TTC7A):c.2500G>A (p.Asp834Asn) rs1458273923
NM_020458.4(TTC7A):c.2505C>T (p.Cys835=) rs1553418566
NM_020458.4(TTC7A):c.2519T>C (p.Leu840Pro) rs2103676767
NM_020458.4(TTC7A):c.2525T>C (p.Leu842Pro) rs2103676868
NM_020458.4(TTC7A):c.2527G>C (p.Glu843Gln)
NM_020458.4(TTC7A):c.2533A>G (p.Ser845Gly)
NM_020458.4(TTC7A):c.2541T>C (p.Pro847=)
NM_020458.4(TTC7A):c.2547G>T (p.Leu849=) rs770156094
NM_020458.4(TTC7A):c.2553C>T (p.Phe851=)
NM_020458.4(TTC7A):c.2559C>T (p.Ile853=) rs368008956
NM_020458.4(TTC7A):c.2562C>A (p.Ile854=) rs1201272520
NM_020458.4(TTC7A):c.2564C>T (p.Pro855Leu)
NM_020458.4(TTC7A):c.2565C>G (p.Pro855=)
NM_020458.4(TTC7A):c.2571G>C (p.Glu857Asp)
NM_020458.4(TTC7A):c.2574C>T (p.Leu858=) rs2103677768
NM_020458.4(TTC7A):c.2576G>A (p.Ter859=)
NM_020458.4(TTC7A):c.264C>T (p.Ser88=) rs2103966391
NM_020458.4(TTC7A):c.27C>T (p.Ser9=) rs1572670688
NM_020458.4(TTC7A):c.280A>T (p.Lys94Ter) rs766411601
NM_020458.4(TTC7A):c.295A>G (p.Met99Val) rs748068913
NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe) rs1041638738
NM_020458.4(TTC7A):c.300_302delinsTTC (p.Glu101Ser)
NM_020458.4(TTC7A):c.303A>G (p.Glu101=) rs1290444100
NM_020458.4(TTC7A):c.315T>C (p.Tyr105=) rs2103966961
NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) rs886037747
NM_020458.4(TTC7A):c.335A>G (p.His112Arg) rs1671312601
NM_020458.4(TTC7A):c.338G>A (p.Gly113Glu) rs1671313057
NM_020458.4(TTC7A):c.339G>A (p.Gly113=)
NM_020458.4(TTC7A):c.348+16_348+23del
NM_020458.4(TTC7A):c.348+7C>A rs553269542
NM_020458.4(TTC7A):c.348+7C>T rs553269542
NM_020458.4(TTC7A):c.348+7_348+8delinsGT rs2103967369
NM_020458.4(TTC7A):c.348+8G>A rs574898082
NM_020458.4(TTC7A):c.349-5T>A
NM_020458.4(TTC7A):c.349-8C>G rs374828712
NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)
NM_020458.4(TTC7A):c.36G>A (p.Lys12=) rs1187105862
NM_020458.4(TTC7A):c.374T>C (p.Leu125Pro) rs367845612
NM_020458.4(TTC7A):c.375G>C (p.Leu125=)
NM_020458.4(TTC7A):c.380T>C (p.Leu127Pro) rs1671902012
NM_020458.4(TTC7A):c.390G>A (p.Leu130=)
NM_020458.4(TTC7A):c.397G>C (p.Val133Leu) rs749546800
NM_020458.4(TTC7A):c.407C>T (p.Ser136Leu) rs748480706
NM_020458.4(TTC7A):c.409T>C (p.Tyr137His) rs1572717746
NM_020458.4(TTC7A):c.413G>A (p.Arg138Gln) rs541501653
NM_020458.4(TTC7A):c.413G>C (p.Arg138Pro)
NM_020458.4(TTC7A):c.416A>G (p.Asp139Gly)
NM_020458.4(TTC7A):c.433G>T (p.Ala145Ser) rs201163893
NM_020458.4(TTC7A):c.437G>A (p.Arg146Gln) rs61746139
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.445A>G (p.Ile149Val) rs1671912445
NM_020458.4(TTC7A):c.446T>C (p.Ile149Thr)
NM_020458.4(TTC7A):c.460A>T (p.Met154Leu)
NM_020458.4(TTC7A):c.465G>A (p.Glu155=)
NM_020458.4(TTC7A):c.468C>A (p.Asn156Lys) rs1274728618
NM_020458.4(TTC7A):c.475C>A (p.Leu159Met)
NM_020458.4(TTC7A):c.477G>A (p.Leu159=)
NM_020458.4(TTC7A):c.488G>T (p.Arg163Leu)
NM_020458.4(TTC7A):c.493C>G (p.Leu165Val)
NM_020458.4(TTC7A):c.498G>A (p.Ser166=)
NM_020458.4(TTC7A):c.499G>T (p.Glu167Ter)
NM_020458.4(TTC7A):c.500_502del (p.Glu167del) rs1671924469
NM_020458.4(TTC7A):c.501G>C (p.Glu167Asp)
NM_020458.4(TTC7A):c.503C>G (p.Ala168Gly)
NM_020458.4(TTC7A):c.517+11G>T
NM_020458.4(TTC7A):c.517+1G>C rs2104019844
NM_020458.4(TTC7A):c.517+8T>G rs781762867
NM_020458.4(TTC7A):c.518-20G>A
NM_020458.4(TTC7A):c.518-20G>C
NM_020458.4(TTC7A):c.518-4G>A rs190250043
NM_020458.4(TTC7A):c.518-4G>T rs190250043
NM_020458.4(TTC7A):c.518-914_588del rs1673619175
NM_020458.4(TTC7A):c.530A>G (p.Glu177Gly) rs1673729373
NM_020458.4(TTC7A):c.532C>T (p.Arg178Cys)
NM_020458.4(TTC7A):c.533G>T (p.Arg178Leu)
NM_020458.4(TTC7A):c.535C>G (p.Leu179Val)
NM_020458.4(TTC7A):c.550G>A (p.Ala184Thr)
NM_020458.4(TTC7A):c.551C>T (p.Ala184Val)
NM_020458.4(TTC7A):c.558C>T (p.Arg186=) rs1420819472
NM_020458.4(TTC7A):c.563G>A (p.Arg188His) rs147471840
NM_020458.4(TTC7A):c.563G>T (p.Arg188Leu) rs147471840
NM_020458.4(TTC7A):c.565del (p.Arg188_Leu189insTer) rs2104231304
NM_020458.4(TTC7A):c.578A>T (p.Glu193Val) rs1673735795
NM_020458.4(TTC7A):c.584A>G (p.Glu195Gly)
NM_020458.4(TTC7A):c.591C>G (p.Ile197Met) rs1673737073
NM_020458.4(TTC7A):c.592A>C (p.Thr198Pro) rs139708012
NM_020458.4(TTC7A):c.607G>T (p.Ala203Ser) rs767203972
NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys) rs1315722693
NM_020458.4(TTC7A):c.635A>G (p.Gln212Arg)
NM_020458.4(TTC7A):c.639A>G (p.Glu213=) rs2104232195
NM_020458.4(TTC7A):c.642G>A (p.Leu214=)
NM_020458.4(TTC7A):c.648+18C>T
NM_020458.4(TTC7A):c.648+3G>A
NM_020458.4(TTC7A):c.650C>G (p.Thr217Ser) rs372046395
NM_020458.4(TTC7A):c.666G>C (p.Thr222=) rs374954171
NM_020458.4(TTC7A):c.666G>T (p.Thr222=) rs374954171
NM_020458.4(TTC7A):c.669G>C (p.Ser223=) rs777759191
NM_020458.4(TTC7A):c.673C>T (p.His225Tyr) rs751644700
NM_020458.4(TTC7A):c.674A>T (p.His225Leu)
NM_020458.4(TTC7A):c.688C>G (p.His230Asp) rs757337807
NM_020458.4(TTC7A):c.690C>A (p.His230Gln) rs971396412
NM_020458.4(TTC7A):c.691C>T (p.Pro231Ser) rs1006086423
NM_020458.4(TTC7A):c.707T>C (p.Leu236Pro) rs1572793765
NM_020458.4(TTC7A):c.719T>C (p.Leu240Pro) rs1392469315
NM_020458.4(TTC7A):c.729C>G (p.Ala243=) rs759278466
NM_020458.4(TTC7A):c.739G>C (p.Ala247Pro) rs752603355
NM_020458.4(TTC7A):c.743A>G (p.Tyr248Cys)
NM_020458.4(TTC7A):c.743A>T (p.Tyr248Phe) rs147976856
NM_020458.4(TTC7A):c.745G>A (p.Val249Met)
NM_020458.4(TTC7A):c.761A>T (p.Lys254Met) rs1558531892
NM_020458.4(TTC7A):c.764+10T>C
NM_020458.4(TTC7A):c.764+11_764+12delinsCT
NM_020458.4(TTC7A):c.764+1G>T rs756396993
NM_020458.4(TTC7A):c.764+1del rs886037746
NM_020458.4(TTC7A):c.764+5G>A rs1180479579
NM_020458.4(TTC7A):c.764+7C>T
NM_020458.4(TTC7A):c.764+9C>G rs1423132210
NM_020458.4(TTC7A):c.765-10C>T
NM_020458.4(TTC7A):c.765-13G>A
NM_020458.4(TTC7A):c.765-14C>G
NM_020458.4(TTC7A):c.765-5A>G
NM_020458.4(TTC7A):c.765-6C>T rs2104381156
NM_020458.4(TTC7A):c.769A>G (p.Ile257Val)
NM_020458.4(TTC7A):c.777G>C (p.Lys259Asn) rs376977004
NM_020458.4(TTC7A):c.779G>A (p.Gly260Asp) rs759008720
NM_020458.4(TTC7A):c.799G>T (p.Val267Leu)
NM_020458.4(TTC7A):c.800T>A (p.Val267Glu)
NM_020458.4(TTC7A):c.81C>T (p.Asp27=) rs2103887947
NM_020458.4(TTC7A):c.828T>G (p.Thr276=)
NM_020458.4(TTC7A):c.829C>G (p.Gln277Glu) rs587777547
NM_020458.4(TTC7A):c.829C>T (p.Gln277Ter) rs587777547
NM_020458.4(TTC7A):c.839A>G (p.Lys280Arg) rs1675838342
NM_020458.4(TTC7A):c.843+15T>C
NM_020458.4(TTC7A):c.843+20G>A
NM_020458.4(TTC7A):c.843+5T>C rs1270977220
NM_020458.4(TTC7A):c.843G>A (p.Val281=) rs1675839027
NM_020458.4(TTC7A):c.849G>C (p.Ala283=)
NM_020458.4(TTC7A):c.866G>A (p.Gly289Glu)
NM_020458.4(TTC7A):c.873G>T (p.Leu291=) rs113997845
NM_020458.4(TTC7A):c.878A>C (p.His293Pro) rs150578101
NM_020458.4(TTC7A):c.878A>G (p.His293Arg) rs150578101
NM_020458.4(TTC7A):c.882C>T (p.Ser294=) rs1572846942
NM_020458.4(TTC7A):c.883C>T (p.Leu295=)
NM_020458.4(TTC7A):c.887G>A (p.Ser296Asn) rs771659534
NM_020458.4(TTC7A):c.888T>A (p.Ser296Arg)
NM_020458.4(TTC7A):c.894G>A (p.Glu298=)
NM_020458.4(TTC7A):c.899A>C (p.Tyr300Ser) rs146719089
NM_020458.4(TTC7A):c.899A>G (p.Tyr300Cys) rs146719089
NM_020458.4(TTC7A):c.900C>T (p.Tyr300=)
NM_020458.4(TTC7A):c.905G>A (p.Ser302Asn)
NM_020458.4(TTC7A):c.935T>C (p.Met312Thr) rs552879320
NM_020458.4(TTC7A):c.948G>T (p.Glu316Asp) rs1432944956
NM_020458.4(TTC7A):c.94C>G (p.Leu32Val) rs144050892
NM_020458.4(TTC7A):c.94C>T (p.Leu32=) rs144050892
NM_020458.4(TTC7A):c.968C>T (p.Ala323Val) rs1675955884
NM_020458.4(TTC7A):c.979C>A (p.Pro327Thr)
NM_020458.4(TTC7A):c.980C>T (p.Pro327Leu)
NM_020458.4(TTC7A):c.990T>C (p.Tyr330=) rs2104387716
NM_020458.4(TTC7A):c.992_994del (p.Glu331del) rs2104387737
NM_020458.4(TTC7A):c.996A>C (p.Gly332=)

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