ClinVar Miner

List of variants in gene ACAN reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_001369268.1(ACAN):c.4150G>A (p.Ala1384Thr) rs61465251 0.03495
NM_001369268.1(ACAN):c.1051+10G>A rs75524333 0.01573
NM_001369268.1(ACAN):c.1733-87G>C rs142728070 0.01529
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001369268.1(ACAN):c.5800G>C (p.Val1934Leu) rs76282091 0.01498
NM_001369268.1(ACAN):c.757+127C>T rs149473651 0.01088
NM_001369268.1(ACAN):c.1430-123T>C rs12440336 0.00903
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00751
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_001369268.1(ACAN):c.4264A>G (p.Thr1422Ala) rs35546357 0.00645
NM_001369268.1(ACAN):c.4120G>A (p.Gly1374Arg) rs201302102 0.00518
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_001369268.1(ACAN):c.7455C>T (p.Cys2485=) rs117879889 0.00457
NM_001369268.1(ACAN):c.2247G>A (p.Val749=) rs137972043 0.00342
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_001369268.1(ACAN):c.2541C>T (p.Pro847=) rs201758384 0.00308
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_001369268.1(ACAN):c.4347C>T (p.Ser1449=) rs60790354 0.00177
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr) rs201149160 0.00162
NM_001369268.1(ACAN):c.7128C>T (p.Arg2376=) rs182888026 0.00152
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_001369268.1(ACAN):c.199G>A (p.Ala67Thr) rs182894280 0.00135
NM_001369268.1(ACAN):c.7151G>A (p.Arg2384His) rs199999713 0.00113
NM_001369268.1(ACAN):c.1242C>T (p.Pro414=) rs375758859 0.00093
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713 0.00093
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001369268.1(ACAN):c.5147G>T (p.Ser1716Ile) rs79925540 0.00086
NM_001369268.1(ACAN):c.7160G>A (p.Arg2387Gln) rs200921049 0.00086
NM_001369268.1(ACAN):c.2024G>A (p.Arg675Gln) rs35102652 0.00072
NM_001369268.1(ACAN):c.582C>T (p.Asp194=) rs375544241 0.00071
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001369268.1(ACAN):c.7598A>G (p.His2533Arg) rs201983356 0.00055
NM_001369268.1(ACAN):c.2450T>C (p.Leu817Pro) rs200626682 0.00054
NM_001369268.1(ACAN):c.162C>T (p.Ile54=) rs377037099 0.00053
NM_001369268.1(ACAN):c.1183G>A (p.Gly395Ser) rs117772298 0.00045
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00040
NM_001369268.1(ACAN):c.519G>T (p.Arg173=) rs368963320 0.00031
NM_001369268.1(ACAN):c.6894A>C (p.Gly2298=) rs373512626 0.00029
NM_001369268.1(ACAN):c.417C>T (p.Ile139=) rs375073497 0.00025
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001369268.1(ACAN):c.1257G>A (p.Thr419=) rs368193007 0.00023
NM_001369268.1(ACAN):c.455-17G>A rs373215074 0.00021
NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys) rs372895171 0.00020
NM_001369268.1(ACAN):c.456C>T (p.Gly152=) rs193277896 0.00019
NM_001369268.1(ACAN):c.745G>A (p.Glu249Lys) rs560781973 0.00017
NM_001369268.1(ACAN):c.2121T>C (p.Pro707=) rs377172993 0.00016
NM_001369268.1(ACAN):c.330G>A (p.Pro110=) rs373654303 0.00014
NM_001369268.1(ACAN):c.7303-8A>G rs372076973 0.00014
NM_001369268.1(ACAN):c.1430-5C>T rs377631427 0.00013
NM_001369268.1(ACAN):c.576C>T (p.Tyr192=) rs373716409 0.00013
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu) rs181923062 0.00012
NM_001369268.1(ACAN):c.7630+7A>G rs374880071 0.00012
NM_001369268.1(ACAN):c.1216G>A (p.Glu406Lys) rs774443075 0.00011
NM_001369268.1(ACAN):c.1416G>A (p.Pro472=) rs530678017 0.00011
NM_001369268.1(ACAN):c.1430-20G>A rs374858120 0.00011
NM_001369268.1(ACAN):c.444C>T (p.Val148=) rs371875791 0.00011
NM_001369268.1(ACAN):c.6837C>T (p.Pro2279=) rs376745222 0.00011
NM_001369268.1(ACAN):c.5931G>T (p.Glu1977Asp) rs200212015 0.00010
NM_001369268.1(ACAN):c.7123G>C (p.Asp2375His) rs772883781 0.00010
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078 0.00010
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060 0.00009
NM_001369268.1(ACAN):c.1678G>A (p.Val560Met) rs770141611 0.00008
NM_001369268.1(ACAN):c.7303-6C>T rs562275561 0.00008
NM_001369268.1(ACAN):c.1546G>A (p.Ala516Thr) rs540361430 0.00007
NM_001369268.1(ACAN):c.7380C>T (p.His2460=) rs373470699 0.00007
NM_001369268.1(ACAN):c.1429+15G>A rs762554069 0.00006
NM_001369268.1(ACAN):c.1887C>T (p.Asp629=) rs756126577 0.00006
NM_001369268.1(ACAN):c.4321A>G (p.Thr1441Ala) rs200437529 0.00006
NM_001369268.1(ACAN):c.703A>T (p.Ile235Phe) rs759248879 0.00006
NM_001369268.1(ACAN):c.7254C>T (p.Asn2418=) rs372066173 0.00006
NM_001369268.1(ACAN):c.7451C>T (p.Ala2484Val) rs543497679 0.00006
NM_001369268.1(ACAN):c.1909G>A (p.Val637Ile) rs770581471 0.00005
NM_001369268.1(ACAN):c.570C>T (p.Ala190=) rs369187075 0.00005
NM_001369268.1(ACAN):c.6897C>T (p.His2299=) rs370259683 0.00005
NM_001369268.1(ACAN):c.7630+15G>A rs761051734 0.00005
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=) rs371049725 0.00004
NM_001369268.1(ACAN):c.1604+18G>A rs1031597904 0.00004
NM_001369268.1(ACAN):c.1812G>A (p.Thr604=) rs576643706 0.00004
NM_001369268.1(ACAN):c.696G>A (p.Thr232=) rs767595242 0.00004
NM_001369268.1(ACAN):c.71-10T>C rs1241939114 0.00004
NM_001369268.1(ACAN):c.7431G>A (p.Thr2477=) rs576129384 0.00004
NM_001369268.1(ACAN):c.7542C>T (p.Cys2514=) rs533629952 0.00004
NM_001369268.1(ACAN):c.1008C>T (p.Gly336=) rs757990771 0.00003
NM_001369268.1(ACAN):c.5460G>A (p.Thr1820=) rs764459159 0.00003
NM_001369268.1(ACAN):c.70+10T>C rs371016456 0.00003
NM_001369268.1(ACAN):c.7188C>T (p.Ile2396=) rs376206831 0.00003
NM_001369268.1(ACAN):c.72C>A (p.Asp24Glu) rs571206900 0.00003
NM_001369268.1(ACAN):c.1666A>T (p.Arg556Trp) rs750979692 0.00002
NM_001369268.1(ACAN):c.1755C>G (p.Arg585=) rs368579188 0.00002
NM_001369268.1(ACAN):c.279C>T (p.Arg93=) rs754145054 0.00002
NM_001369268.1(ACAN):c.4341G>C (p.Glu1447Asp) rs201505307 0.00002
NM_001369268.1(ACAN):c.454+12C>G rs374926233 0.00002
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr) rs751285545 0.00002
NM_001369268.1(ACAN):c.7661G>A (p.Arg2554Gln) rs759942986 0.00002
NM_001369268.1(ACAN):c.113C>T (p.Pro38Leu) rs548534627 0.00001
NM_001369268.1(ACAN):c.11T>C (p.Leu4Ser) rs202166561 0.00001
NM_001369268.1(ACAN):c.1287C>T (p.Phe429=) rs559634421 0.00001
NM_001369268.1(ACAN):c.135C>T (p.Thr45=) rs372517447 0.00001
NM_001369268.1(ACAN):c.1429+19G>A rs1163919147 0.00001
NM_001369268.1(ACAN):c.1449C>T (p.Arg483=) rs1207176028 0.00001
NM_001369268.1(ACAN):c.1851C>T (p.Arg617=) rs1384370457 0.00001
NM_001369268.1(ACAN):c.1908C>T (p.Ile636=) rs746789171 0.00001
NM_001369268.1(ACAN):c.1980G>A (p.Thr660=) rs769101937 0.00001
NM_001369268.1(ACAN):c.2023C>A (p.Arg675=) rs1356219990 0.00001
NM_001369268.1(ACAN):c.2027-7_2027-6insGG rs1327731020 0.00001
NM_001369268.1(ACAN):c.205C>T (p.Leu69=) rs1896572854 0.00001
NM_001369268.1(ACAN):c.2175G>A (p.Glu725=) rs774473524 0.00001
NM_001369268.1(ACAN):c.399C>T (p.Cys133=) rs529879661 0.00001
NM_001369268.1(ACAN):c.518G>A (p.Arg173Gln) rs769356878 0.00001
NM_001369268.1(ACAN):c.6840C>T (p.Ala2280=) rs757896854 0.00001
NM_001369268.1(ACAN):c.7219+12G>A rs564393851 0.00001
NM_001369268.1(ACAN):c.909C>T (p.Ala303=) rs368988256 0.00001
NM_001369268.1(ACAN):c.942C>T (p.Ala314=) rs746517194 0.00001
NM_001369268.1(ACAN):c.1005G>A (p.Thr335=)
NM_001369268.1(ACAN):c.1005G>C (p.Thr335=)
NM_001369268.1(ACAN):c.1014C>T (p.Pro338=)
NM_001369268.1(ACAN):c.1032C>T (p.Tyr344=)
NM_001369268.1(ACAN):c.1051+8A>G
NM_001369268.1(ACAN):c.1052-6C>T
NM_001369268.1(ACAN):c.1089A>G (p.Gly363=)
NM_001369268.1(ACAN):c.1092G>A (p.Val364=)
NM_001369268.1(ACAN):c.1101G>A (p.Glu367=) rs2141581676
NM_001369268.1(ACAN):c.1104G>A (p.Glu368=)
NM_001369268.1(ACAN):c.1110C>T (p.Ile370=)
NM_001369268.1(ACAN):c.1125G>C (p.Val375=)
NM_001369268.1(ACAN):c.1128C>G (p.Thr376=)
NM_001369268.1(ACAN):c.1164C>T (p.Ile388=)
NM_001369268.1(ACAN):c.1200C>T (p.Thr400=)
NM_001369268.1(ACAN):c.1215C>T (p.Phe405=)
NM_001369268.1(ACAN):c.123C>A (p.Val41=)
NM_001369268.1(ACAN):c.1269A>G (p.Glu423=)
NM_001369268.1(ACAN):c.1275G>C (p.Gly425=)
NM_001369268.1(ACAN):c.1278C>T (p.Ala426=)
NM_001369268.1(ACAN):c.1290T>C (p.Ala430=)
NM_001369268.1(ACAN):c.1302T>C (p.Asn434=)
NM_001369268.1(ACAN):c.1305G>A (p.Glu435=)
NM_001369268.1(ACAN):c.1326C>T (p.Pro442=)
NM_001369268.1(ACAN):c.1353C>A (p.Gly451=)
NM_001369268.1(ACAN):c.1353C>G (p.Gly451=)
NM_001369268.1(ACAN):c.1362G>A (p.Thr454=)
NM_001369268.1(ACAN):c.1386C>T (p.Val462=)
NM_001369268.1(ACAN):c.1429+14C>T
NM_001369268.1(ACAN):c.1430-10C>T rs769447887
NM_001369268.1(ACAN):c.1430-13C>T
NM_001369268.1(ACAN):c.1470G>A (p.Ser490=)
NM_001369268.1(ACAN):c.1485G>A (p.Glu495=)
NM_001369268.1(ACAN):c.1496C>T (p.Ala499Val)
NM_001369268.1(ACAN):c.1539C>G (p.Leu513=)
NM_001369268.1(ACAN):c.1545C>T (p.Ala515=)
NM_001369268.1(ACAN):c.1548C>T (p.Ala516=)
NM_001369268.1(ACAN):c.1551C>T (p.Tyr517=)
NM_001369268.1(ACAN):c.1560C>T (p.Gly520=)
NM_001369268.1(ACAN):c.1575C>G (p.Asp525Glu) rs367724066
NM_001369268.1(ACAN):c.1575C>T (p.Asp525=) rs367724066
NM_001369268.1(ACAN):c.1578C>T (p.Ala526=)
NM_001369268.1(ACAN):c.1599C>G (p.Thr533=)
NM_001369268.1(ACAN):c.15C>T (p.Leu5=)
NM_001369268.1(ACAN):c.1604+17C>T
NM_001369268.1(ACAN):c.1604+19C>T
NM_001369268.1(ACAN):c.1605-11C>T
NM_001369268.1(ACAN):c.1605-12T>C rs369190934
NM_001369268.1(ACAN):c.1605-20C>G
NM_001369268.1(ACAN):c.1605-4G>T
NM_001369268.1(ACAN):c.1605-9C>T
NM_001369268.1(ACAN):c.1623C>G (p.Pro541=)
NM_001369268.1(ACAN):c.1635C>T (p.Cys545=)
NM_001369268.1(ACAN):c.1638G>C (p.Val546=)
NM_001369268.1(ACAN):c.1656C>T (p.Ser552=)
NM_001369268.1(ACAN):c.165C>T (p.Asp55=)
NM_001369268.1(ACAN):c.1683C>G (p.Arg561=)
NM_001369268.1(ACAN):c.1701C>T (p.Tyr567=)
NM_001369268.1(ACAN):c.1728T>G (p.Leu576=)
NM_001369268.1(ACAN):c.1746C>T (p.Phe582=)
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001369268.1(ACAN):c.1824G>A (p.Thr608=)
NM_001369268.1(ACAN):c.1836C>T (p.Tyr612=)
NM_001369268.1(ACAN):c.1842C>T (p.Ala614=)
NM_001369268.1(ACAN):c.1855C>T (p.Leu619=) rs1596140191
NM_001369268.1(ACAN):c.1857G>A (p.Leu619=)
NM_001369268.1(ACAN):c.1869T>C (p.Tyr623=)
NM_001369268.1(ACAN):c.1872C>T (p.Ala624=)
NM_001369268.1(ACAN):c.1884C>T (p.Ala628=)
NM_001369268.1(ACAN):c.1923T>C (p.Pro641=)
NM_001369268.1(ACAN):c.1944A>G (p.Pro648=)
NM_001369268.1(ACAN):c.1956G>A (p.Thr652=)
NM_001369268.1(ACAN):c.1971T>C (p.Pro657=)
NM_001369268.1(ACAN):c.1983C>T (p.Gly661=)
NM_001369268.1(ACAN):c.1995A>G (p.Pro665=)
NM_001369268.1(ACAN):c.2026+105A>T
NM_001369268.1(ACAN):c.2026+118C>G
NM_001369268.1(ACAN):c.2026+122G>A
NM_001369268.1(ACAN):c.2026+17C>T
NM_001369268.1(ACAN):c.2026+18G>A
NM_001369268.1(ACAN):c.2026+9C>G
NM_001369268.1(ACAN):c.2027-10T>A
NM_001369268.1(ACAN):c.2027-12C>T
NM_001369268.1(ACAN):c.2027-13A>T
NM_001369268.1(ACAN):c.2027-16C>T
NM_001369268.1(ACAN):c.2027-19C>T
NM_001369268.1(ACAN):c.2027-36_2027-17del rs2141595527
NM_001369268.1(ACAN):c.2043T>C (p.Pro681=)
NM_001369268.1(ACAN):c.2049A>G (p.Pro683=) rs1249655660
NM_001369268.1(ACAN):c.2061G>A (p.Glu687=)
NM_001369268.1(ACAN):c.2073C>T (p.Pro691=)
NM_001369268.1(ACAN):c.2079A>G (p.Ser693=)
NM_001369268.1(ACAN):c.2103C>T (p.Ile701=)
NM_001369268.1(ACAN):c.2115G>A (p.Val705=)
NM_001369268.1(ACAN):c.2154A>G (p.Thr718=)
NM_001369268.1(ACAN):c.2166C>G (p.Pro722=)
NM_001369268.1(ACAN):c.2178T>C (p.Thr726=)
NM_001369268.1(ACAN):c.2193G>A (p.Glu731=)
NM_001369268.1(ACAN):c.2202C>T (p.Thr734=)
NM_001369268.1(ACAN):c.2241C>A (p.Thr747=)
NM_001369268.1(ACAN):c.2259G>A (p.Pro753=)
NM_001369268.1(ACAN):c.2262G>A (p.Leu754=)
NM_001369268.1(ACAN):c.2266+13T>G
NM_001369268.1(ACAN):c.2266+16G>T
NM_001369268.1(ACAN):c.2843C>T (p.Ala948Val)
NM_001369268.1(ACAN):c.2922T>C (p.Ser974=)
NM_001369268.1(ACAN):c.2970G>A (p.Glu990=)
NM_001369268.1(ACAN):c.300T>C (p.Tyr100=)
NM_001369268.1(ACAN):c.303G>A (p.Gln101=)
NM_001369268.1(ACAN):c.318G>T (p.Leu106=)
NM_001369268.1(ACAN):c.330G>C (p.Pro110=)
NM_001369268.1(ACAN):c.333C>T (p.Ala111=)
NM_001369268.1(ACAN):c.345C>T (p.Asp115=)
NM_001369268.1(ACAN):c.3637G>T (p.Ala1213Ser) rs11638262
NM_001369268.1(ACAN):c.369G>A (p.Leu123=)
NM_001369268.1(ACAN):c.387G>A (p.Gly129=)
NM_001369268.1(ACAN):c.4149T>C (p.Thr1383=)
NM_001369268.1(ACAN):c.4206T>C (p.Thr1402=)
NM_001369268.1(ACAN):c.4207A>T (p.Thr1403Ser) rs12899191
NM_001369268.1(ACAN):c.426C>T (p.Ser142=)
NM_001369268.1(ACAN):c.4525C>T (p.Leu1509Phe)
NM_001369268.1(ACAN):c.454+11C>T
NM_001369268.1(ACAN):c.454+18G>A
NM_001369268.1(ACAN):c.454+23_454+40del
NM_001369268.1(ACAN):c.454+9C>T
NM_001369268.1(ACAN):c.455-17G>T
NM_001369268.1(ACAN):c.455-19G>A
NM_001369268.1(ACAN):c.455-8T>C rs2141566434
NM_001369268.1(ACAN):c.456C>G (p.Gly152=)
NM_001369268.1(ACAN):c.459C>T (p.Ile153=) rs758371121
NM_001369268.1(ACAN):c.48A>C (p.Ala16=)
NM_001369268.1(ACAN):c.492C>T (p.Tyr164=)
NM_001369268.1(ACAN):c.513G>A (p.Ala171=)
NM_001369268.1(ACAN):c.516G>A (p.Gln172=)
NM_001369268.1(ACAN):c.549C>T (p.Ala183=)
NM_001369268.1(ACAN):c.571G>A (p.Ala191Thr)
NM_001369268.1(ACAN):c.600C>T (p.Asp200=)
NM_001369268.1(ACAN):c.630-12G>A
NM_001369268.1(ACAN):c.630-20C>T
NM_001369268.1(ACAN):c.630-4G>A
NM_001369268.1(ACAN):c.630-8C>T
NM_001369268.1(ACAN):c.636C>T (p.Pro212=)
NM_001369268.1(ACAN):c.678G>A (p.Glu226=)
NM_001369268.1(ACAN):c.6833-231C>T rs1358158475
NM_001369268.1(ACAN):c.6846C>T (p.Ser2282=) rs865958657
NM_001369268.1(ACAN):c.6861C>G (p.Pro2287=)
NM_001369268.1(ACAN):c.6885G>A (p.Glu2295=)
NM_001369268.1(ACAN):c.6909G>C (p.Leu2303=)
NM_001369268.1(ACAN):c.690G>A (p.Val230=)
NM_001369268.1(ACAN):c.6946+13T>C
NM_001369268.1(ACAN):c.6946+14T>C
NM_001369268.1(ACAN):c.6946+16G>T
NM_001369268.1(ACAN):c.6946+18C>T
NM_001369268.1(ACAN):c.6946+19G>A
NM_001369268.1(ACAN):c.6C>T (p.Thr2=)
NM_001369268.1(ACAN):c.70+12C>A
NM_001369268.1(ACAN):c.70+13C>T
NM_001369268.1(ACAN):c.7061-11C>G
NM_001369268.1(ACAN):c.7061-19C>G
NM_001369268.1(ACAN):c.7080G>A (p.Glu2360=)
NM_001369268.1(ACAN):c.708A>T (p.Arg236=)
NM_001369268.1(ACAN):c.7122G>A (p.Pro2374=)
NM_001369268.1(ACAN):c.7158T>C (p.Cys2386=)
NM_001369268.1(ACAN):c.717C>T (p.Asn239=)
NM_001369268.1(ACAN):c.7182C>T (p.Ser2394=)
NM_001369268.1(ACAN):c.7188C>A (p.Ile2396=)
NM_001369268.1(ACAN):c.7197C>G (p.Pro2399=)
NM_001369268.1(ACAN):c.7219+12G>T
NM_001369268.1(ACAN):c.7219+8C>G rs1395388215
NM_001369268.1(ACAN):c.7219+8C>T
NM_001369268.1(ACAN):c.7220-11C>G
NM_001369268.1(ACAN):c.7236C>T (p.Tyr2412=)
NM_001369268.1(ACAN):c.7245C>T (p.Ile2415=)
NM_001369268.1(ACAN):c.7248C>G (p.Gly2416=)
NM_001369268.1(ACAN):c.726T>C (p.Tyr242=)
NM_001369268.1(ACAN):c.729T>C (p.Asp243=)
NM_001369268.1(ACAN):c.7302+10G>A
NM_001369268.1(ACAN):c.7303-14A>G
NM_001369268.1(ACAN):c.7303-15C>T
NM_001369268.1(ACAN):c.732G>T (p.Val244=)
NM_001369268.1(ACAN):c.7383G>A (p.Glu2461=)
NM_001369268.1(ACAN):c.7390G>A (p.Glu2464Lys)
NM_001369268.1(ACAN):c.741C>T (p.Phe247=)
NM_001369268.1(ACAN):c.7422C>A (p.Leu2474=)
NM_001369268.1(ACAN):c.7443C>T (p.Gly2481=)
NM_001369268.1(ACAN):c.7447+10C>T rs369070625
NM_001369268.1(ACAN):c.7447+11G>A
NM_001369268.1(ACAN):c.7447+7T>C
NM_001369268.1(ACAN):c.7448-14T>C
NM_001369268.1(ACAN):c.7448-7C>T rs746093703
NM_001369268.1(ACAN):c.7491C>T (p.Phe2497=)
NM_001369268.1(ACAN):c.7494G>A (p.Gly2498=)
NM_001369268.1(ACAN):c.7527G>A (p.Leu2509=)
NM_001369268.1(ACAN):c.7531C>T (p.Arg2511Trp)
NM_001369268.1(ACAN):c.7566C>T (p.His2522=)
NM_001369268.1(ACAN):c.757+13del
NM_001369268.1(ACAN):c.757+8G>T
NM_001369268.1(ACAN):c.7572C>T (p.Pro2524=)
NM_001369268.1(ACAN):c.758-19C>A
NM_001369268.1(ACAN):c.758-20G>T
NM_001369268.1(ACAN):c.758-6T>A
NM_001369268.1(ACAN):c.7599C>T (p.His2533=)
NM_001369268.1(ACAN):c.762G>A (p.Glu254=)
NM_001369268.1(ACAN):c.7630+11C>G rs768123125
NM_001369268.1(ACAN):c.7630+14C>G
NM_001369268.1(ACAN):c.7630+14del
NM_001369268.1(ACAN):c.7630+19A>G
NM_001369268.1(ACAN):c.7631-14C>T
NM_001369268.1(ACAN):c.7631-17T>A
NM_001369268.1(ACAN):c.7631-8C>T rs974157684
NM_001369268.1(ACAN):c.7631-9T>G
NM_001369268.1(ACAN):c.7641C>T (p.Tyr2547=)
NM_001369268.1(ACAN):c.7647C>G (p.Arg2549=)
NM_001369268.1(ACAN):c.792C>T (p.Phe264=)
NM_001369268.1(ACAN):c.795C>G (p.Thr265=)
NM_001369268.1(ACAN):c.81C>T (p.Asn27=)
NM_001369268.1(ACAN):c.820C>T (p.Arg274Trp)
NM_001369268.1(ACAN):c.828G>A (p.Leu276=)
NM_001369268.1(ACAN):c.846C>T (p.Thr282=)
NM_001369268.1(ACAN):c.849G>T (p.Thr283=)
NM_001369268.1(ACAN):c.84G>A (p.Ser28=)
NM_001369268.1(ACAN):c.85C>T (p.Leu29=)
NM_001369268.1(ACAN):c.897C>T (p.Ala299=)
NM_001369268.1(ACAN):c.918C>T (p.Ser306=)
NM_001369268.1(ACAN):c.969G>A (p.Leu323=)
NM_001369268.1(ACAN):c.987C>T (p.Tyr329=)

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