ClinVar Miner

List of variants reported as uncertain significance for Coffin-Siris syndrome

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 793
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val) rs530780611 0.00068
NM_003072.5(SMARCA4):c.*299C>T rs772399601 0.00056
NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr) rs140568310 0.00040
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=) rs146598030 0.00029
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val) rs145749221 0.00017
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val) rs201137071 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu) rs138097741 0.00012
NM_003072.5(SMARCA4):c.655A>G (p.Thr219Ala) rs774085664 0.00010
NM_003079.5(SMARCE1):c.767A>G (p.Lys256Arg) rs542193901 0.00010
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val) rs748273011 0.00008
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu) rs371045201 0.00007
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 0.00006
NM_003072.5(SMARCA4):c.1019C>T (p.Ala340Val) rs756474511 0.00006
NM_003072.5(SMARCA4):c.104C>T (p.Ser35Leu) rs563079629 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.416C>T (p.Pro139Leu) rs762023872 0.00006
NM_003072.5(SMARCA4):c.4884C>G (p.Asp1628Glu) rs778856307 0.00006
NM_003072.5(SMARCA4):c.79A>G (p.Met27Val) rs768328175 0.00006
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val) rs755338885 0.00006
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003072.5(SMARCA4):c.4823G>A (p.Arg1608Gln) rs375672575 0.00005
NM_001330288.2(SMARCC2):c.2716-3del rs778570250 0.00004
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser) rs141461351 0.00004
NM_003072.5(SMARCA4):c.1018G>A (p.Ala340Thr) rs371214327 0.00004
NM_003072.5(SMARCA4):c.108G>A (p.Pro36=) rs372313516 0.00004
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu) rs755935365 0.00004
NM_003072.5(SMARCA4):c.2176C>T (p.Arg726Cys) rs778049192 0.00004
NM_003072.5(SMARCA4):c.235A>G (p.Met79Val) rs767638396 0.00004
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser) rs766474711 0.00004
NM_003072.5(SMARCA4):c.277A>G (p.Met93Val) rs777647740 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_003072.5(SMARCA4):c.3830C>T (p.Pro1277Leu) rs746219091 0.00004
NM_003072.5(SMARCA4):c.4119C>G (p.His1373Gln) rs751704331 0.00004
NM_003072.5(SMARCA4):c.4585G>A (p.Val1529Ile) rs777829717 0.00004
NM_003072.5(SMARCA4):c.4801C>T (p.Arg1601Trp) rs766797299 0.00004
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu) rs878854234 0.00004
NM_003072.5(SMARCA4):c.762T>C (p.Gly254=) rs376219601 0.00004
NM_003072.5(SMARCA4):c.932C>G (p.Pro311Arg) rs759754994 0.00004
NM_003079.5(SMARCE1):c.1006G>A (p.Glu336Lys) rs377136485 0.00004
NM_003079.5(SMARCE1):c.412G>A (p.Ala138Thr) rs771308672 0.00004
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser) rs151115781 0.00003
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln) rs751043203 0.00003
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln) rs751391187 0.00003
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu) rs368420323 0.00003
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val) rs186823009 0.00003
NM_003072.5(SMARCA4):c.1006C>A (p.Pro336Thr) rs111491424 0.00003
NM_003072.5(SMARCA4):c.115G>A (p.Ala39Thr) rs764312409 0.00003
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val) rs569715577 0.00003
NM_003072.5(SMARCA4):c.1420-3C>T rs777295398 0.00003
NM_003072.5(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699 0.00003
NM_003072.5(SMARCA4):c.3436G>A (p.Gly1146Ser) rs200007170 0.00003
NM_003072.5(SMARCA4):c.3814G>A (p.Ala1272Thr) rs776672640 0.00003
NM_003072.5(SMARCA4):c.3850G>A (p.Asp1284Asn) rs765989895 0.00003
NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) rs143950084 0.00003
NM_003072.5(SMARCA4):c.4211T>C (p.Val1404Ala) rs1240862092 0.00003
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly) rs373390083 0.00003
NM_003072.5(SMARCA4):c.4255G>A (p.Ala1419Thr) rs374722116 0.00003
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu) rs760654888 0.00003
NM_003072.5(SMARCA4):c.4294G>A (p.Asp1432Asn) rs755295556 0.00003
NM_003072.5(SMARCA4):c.4533+5C>T rs778368597 0.00003
NM_003072.5(SMARCA4):c.4673C>T (p.Thr1558Ile) rs765873407 0.00003
NM_003072.5(SMARCA4):c.4682G>A (p.Arg1561Gln) rs201258822 0.00003
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_003072.5(SMARCA4):c.671C>T (p.Ser224Leu) rs1368858108 0.00003
NM_003072.5(SMARCA4):c.727G>A (p.Gly243Ser) rs545634451 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr) rs199776442 0.00003
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr) rs772189962 0.00002
NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala) rs776717020 0.00002
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg) rs1401971317 0.00002
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly) rs1214970789 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn) rs1159561275 0.00002
NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser) rs1408001716 0.00002
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu) rs962264300 0.00002
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser) rs774509236 0.00002
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val) rs878854196 0.00002
NM_003072.5(SMARCA4):c.1119-3C>T rs747149353 0.00002
NM_003072.5(SMARCA4):c.1706G>A (p.Arg569Gln) rs1050237 0.00002
NM_003072.5(SMARCA4):c.1742A>G (p.Lys581Arg) rs765139835 0.00002
NM_003072.5(SMARCA4):c.1755A>T (p.Lys585Asn) rs772752194 0.00002
NM_003072.5(SMARCA4):c.2044C>G (p.Leu682Val) rs773252889 0.00002
NM_003072.5(SMARCA4):c.2050G>A (p.Val684Met) rs766237791 0.00002
NM_003072.5(SMARCA4):c.2730G>A (p.Thr910=) rs200258214 0.00002
NM_003072.5(SMARCA4):c.3799G>A (p.Gly1267Ser) rs764152134 0.00002
NM_003072.5(SMARCA4):c.4370A>G (p.Asn1457Ser) rs1434396338 0.00002
NM_003072.5(SMARCA4):c.4405G>A (p.Val1469Met) rs370484739 0.00002
NM_003072.5(SMARCA4):c.4424+6C>T rs778283753 0.00002
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met) rs372893370 0.00002
NM_003072.5(SMARCA4):c.4724G>A (p.Ser1575Asn) rs878854229 0.00002
NM_003072.5(SMARCA4):c.4754G>T (p.Gly1585Val) rs148115492 0.00002
NM_003072.5(SMARCA4):c.4763C>T (p.Ser1588Phe) rs373858447 0.00002
NM_003072.5(SMARCA4):c.4916G>A (p.Arg1639His) rs867536416 0.00002
NM_003072.5(SMARCA4):c.626C>T (p.Pro209Leu) rs778071122 0.00002
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr) rs1417452362 0.00002
NM_003072.5(SMARCA4):c.679G>T (p.Ala227Ser) rs769096295 0.00002
NM_003072.5(SMARCA4):c.790G>C (p.Gly264Arg) rs746036083 0.00002
NM_003072.5(SMARCA4):c.802G>A (p.Val268Met) rs768522438 0.00002
NM_003072.5(SMARCA4):c.859+5G>A rs367781236 0.00002
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met) rs781066262 0.00002
NM_003072.5(SMARCA4):c.929G>A (p.Arg310His) rs766422429 0.00002
NM_003072.5(SMARCA4):c.940G>A (p.Ala314Thr) rs764188556 0.00002
NM_003072.5(SMARCA4):c.986A>G (p.Gln329Arg) rs775843321 0.00002
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser) rs762741274 0.00002
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) rs1297634063 0.00002
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) rs751660162 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg) rs757458581 0.00002
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) rs969170076 0.00002
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His) rs752827461 0.00002
NM_006268.5(DPF2):c.1169C>A (p.Ser390Tyr) rs765632713 0.00002
NM_001330288.2(SMARCC2):c.1744-2A>G rs1025329696 0.00001
NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg) rs1328302930 0.00001
NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe) rs1203017760 0.00001
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp) rs776778840 0.00001
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe) rs1380676072 0.00001
NM_001374828.1(ARID1B):c.1557C>G (p.Ser519Arg) rs1583026835 0.00001
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr) rs1296293849 0.00001
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His) rs747306459 0.00001
NM_001374828.1(ARID1B):c.1987-10T>G rs1276255111 0.00001
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu) rs1057521656 0.00001
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln) rs761133847 0.00001
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala) rs140639463 0.00001
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val) rs752961325 0.00001
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val) rs762698567 0.00001
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln) rs762183842 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr) rs772464386 0.00001
NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr) rs1413279513 0.00001
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp) rs920305028 0.00001
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys) rs1327727725 0.00001
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu) rs1186261410 0.00001
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu) rs1599846930 0.00001
NM_003072.5(SMARCA4):c.*346G>A rs754087248 0.00001
NM_003072.5(SMARCA4):c.1000G>A (p.Gly334Arg) rs1364450672 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.1013A>G (p.Gln338Arg) rs757896781 0.00001
NM_003072.5(SMARCA4):c.1052G>A (p.Arg351His) rs1018881303 0.00001
NM_003072.5(SMARCA4):c.1075C>T (p.Arg359Trp) rs1213473194 0.00001
NM_003072.5(SMARCA4):c.107C>T (p.Pro36Leu) rs766176476 0.00001
NM_003072.5(SMARCA4):c.1084G>A (p.Asp362Asn) rs776534924 0.00001
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met) rs532242119 0.00001
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr) rs769660597 0.00001
NM_003072.5(SMARCA4):c.1199C>T (p.Ala400Val) rs1246299696 0.00001
NM_003072.5(SMARCA4):c.1204A>G (p.Ile402Val) rs750861625 0.00001
NM_003072.5(SMARCA4):c.1303A>G (p.Asn435Asp) rs371062068 0.00001
NM_003072.5(SMARCA4):c.131G>A (p.Gly44Glu) rs1344101243 0.00001
NM_003072.5(SMARCA4):c.140C>T (p.Pro47Leu) rs1284152280 0.00001
NM_003072.5(SMARCA4):c.1477G>A (p.Val493Ile) rs372078902 0.00001
NM_003072.5(SMARCA4):c.163C>T (p.Pro55Ser) rs1218848193 0.00001
NM_003072.5(SMARCA4):c.1774G>A (p.Ala592Thr) rs1257518561 0.00001
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu) rs750891894 0.00001
NM_003072.5(SMARCA4):c.1787C>T (p.Thr596Met) rs779952581 0.00001
NM_003072.5(SMARCA4):c.178G>A (p.Gly60Arg) rs1307434805 0.00001
NM_003072.5(SMARCA4):c.1796T>C (p.Ile599Thr) rs1207080512 0.00001
NM_003072.5(SMARCA4):c.1886C>T (p.Thr629Ile) rs947818318 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.1909G>A (p.Gly637Arg) rs917552239 0.00001
NM_003072.5(SMARCA4):c.1915C>G (p.Leu639Val) rs587778680 0.00001
NM_003072.5(SMARCA4):c.1940C>T (p.Pro647Leu) rs2087817276 0.00001
NM_003072.5(SMARCA4):c.1958C>T (p.Pro653Leu) rs774927302 0.00001
NM_003072.5(SMARCA4):c.1982G>A (p.Gly661Asp) rs367689657 0.00001
NM_003072.5(SMARCA4):c.2001+5G>A rs780996751 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2066A>T (p.Lys689Met) rs767328169 0.00001
NM_003072.5(SMARCA4):c.206T>C (p.Met69Thr) rs1443052655 0.00001
NM_003072.5(SMARCA4):c.2086G>A (p.Asp696Asn) rs1486794288 0.00001
NM_003072.5(SMARCA4):c.2110C>T (p.Arg704Trp) rs781539973 0.00001
NM_003072.5(SMARCA4):c.2123+7G>T rs748276210 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003072.5(SMARCA4):c.2177G>A (p.Arg726His) rs749349816 0.00001
NM_003072.5(SMARCA4):c.218A>G (p.His73Arg) rs748147246 0.00001
NM_003072.5(SMARCA4):c.220A>C (p.Lys74Gln) rs1060502059 0.00001
NM_003072.5(SMARCA4):c.2257G>A (p.Val753Ile) rs1483352845 0.00001
NM_003072.5(SMARCA4):c.2438+4A>C rs771818596 0.00001
NM_003072.5(SMARCA4):c.2456C>T (p.Ala819Val) rs1276140261 0.00001
NM_003072.5(SMARCA4):c.2486T>C (p.Val829Ala) rs1455752885 0.00001
NM_003072.5(SMARCA4):c.2505+4G>A rs745383210 0.00001
NM_003072.5(SMARCA4):c.2506-3C>T rs1060502095 0.00001
NM_003072.5(SMARCA4):c.251T>C (p.Met84Thr) rs998875986 0.00001
NM_003072.5(SMARCA4):c.2541G>C (p.Gln847His) rs1064796361 0.00001
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu) rs751542188 0.00001
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=) rs775610559 0.00001
NM_003072.5(SMARCA4):c.2616+5C>T rs763025766 0.00001
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His) rs755987663 0.00001
NM_003072.5(SMARCA4):c.3005C>T (p.Ala1002Val) rs1350288991 0.00001
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val) rs746602808 0.00001
NM_003072.5(SMARCA4):c.3086A>G (p.Lys1029Arg) rs1288014090 0.00001
NM_003072.5(SMARCA4):c.308A>G (p.His103Arg) rs770147215 0.00001
NM_003072.5(SMARCA4):c.3216-5T>A rs1555781739 0.00001
NM_003072.5(SMARCA4):c.3263T>C (p.Ile1088Thr) rs1363642477 0.00001
NM_003072.5(SMARCA4):c.326C>T (p.Pro109Leu) rs763471007 0.00001
NM_003072.5(SMARCA4):c.3274C>T (p.Leu1092Phe) rs1292810203 0.00001
NM_003072.5(SMARCA4):c.3350C>T (p.Ala1117Val) rs755069412 0.00001
NM_003072.5(SMARCA4):c.3356G>A (p.Arg1119His) rs370466670 0.00001
NM_003072.5(SMARCA4):c.335C>T (p.Pro112Leu) rs1057523400 0.00001
NM_003072.5(SMARCA4):c.3383-3C>A rs371558035 0.00001
NM_003072.5(SMARCA4):c.3409A>G (p.Met1137Val) rs1194707294 0.00001
NM_003072.5(SMARCA4):c.3437G>A (p.Gly1146Asp) rs566531015 0.00001
NM_003072.5(SMARCA4):c.344A>G (p.Gln115Arg) rs1268937748 0.00001
NM_003072.5(SMARCA4):c.3547-3C>G rs927543047 0.00001
NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu) rs1201812441 0.00001
NM_003072.5(SMARCA4):c.3775-12A>G rs770956288 0.00001
NM_003072.5(SMARCA4):c.3841G>A (p.Val1281Ile) rs587778685 0.00001
NM_003072.5(SMARCA4):c.3904G>A (p.Val1302Ile) rs1185321977 0.00001
NM_003072.5(SMARCA4):c.400G>T (p.Val134Phe) rs1057520203 0.00001
NM_003072.5(SMARCA4):c.4042A>G (p.Ile1348Val) rs1221798183 0.00001
NM_003072.5(SMARCA4):c.4067G>A (p.Arg1356Gln) rs1204091534 0.00001
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376 0.00001
NM_003072.5(SMARCA4):c.4187C>T (p.Thr1396Met) rs1262500025 0.00001
NM_003072.5(SMARCA4):c.4210G>A (p.Val1404Ile) rs1555788108 0.00001
NM_003072.5(SMARCA4):c.4214G>A (p.Arg1405Gln) rs1016382250 0.00001
NM_003072.5(SMARCA4):c.422C>T (p.Ser141Leu) rs1060502073 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_003072.5(SMARCA4):c.4262C>T (p.Ser1421Phe) rs150958750 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4277C>T (p.Thr1426Ile) rs1334955221 0.00001
NM_003072.5(SMARCA4):c.4286G>A (p.Arg1429His) rs1290442223 0.00001
NM_003072.5(SMARCA4):c.4291C>T (p.Arg1431Cys) rs587778681 0.00001
NM_003072.5(SMARCA4):c.4354T>C (p.Ser1452Pro) rs1267513562 0.00001
NM_003072.5(SMARCA4):c.4436G>A (p.Arg1479His) rs1057523566 0.00001
NM_003072.5(SMARCA4):c.443G>T (p.Gly148Val) rs766946874 0.00001
NM_003072.5(SMARCA4):c.4546A>G (p.Asn1516Asp) rs587778684 0.00001
NM_003072.5(SMARCA4):c.4547A>G (p.Asn1516Ser) rs767810437 0.00001
NM_003072.5(SMARCA4):c.455C>T (p.Ala152Val) rs777272957 0.00001
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu) rs539710314 0.00001
NM_003072.5(SMARCA4):c.4664C>T (p.Ser1555Leu) rs1057523990 0.00001
NM_003072.5(SMARCA4):c.4681C>T (p.Arg1561Trp) rs749700321 0.00001
NM_003072.5(SMARCA4):c.4696A>G (p.Lys1566Glu) rs1470609623 0.00001
NM_003072.5(SMARCA4):c.4744G>A (p.Glu1582Lys) rs768899897 0.00001
NM_003072.5(SMARCA4):c.4771C>T (p.Arg1591Trp) rs1303089960 0.00001
NM_003072.5(SMARCA4):c.4772G>A (p.Arg1591Gln) rs1356932636 0.00001
NM_003072.5(SMARCA4):c.4777G>A (p.Val1593Ile) rs753578157 0.00001
NM_003072.5(SMARCA4):c.4783G>A (p.Val1595Met) rs1568565611 0.00001
NM_003072.5(SMARCA4):c.4802G>A (p.Arg1601Gln) rs1484835507 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.4844G>A (p.Arg1615Gln) rs1278313953 0.00001
NM_003072.5(SMARCA4):c.4862G>A (p.Arg1621Gln) rs964459864 0.00001
NM_003072.5(SMARCA4):c.4871C>T (p.Pro1624Leu) rs756255060 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn) rs374648988 0.00001
NM_003072.5(SMARCA4):c.4911+1G>A rs1341783002 0.00001
NM_003072.5(SMARCA4):c.4911+5G>A rs534705500 0.00001
NM_003072.5(SMARCA4):c.4915C>T (p.Arg1639Cys) rs776222414 0.00001
NM_003072.5(SMARCA4):c.499C>T (p.Arg167Trp) rs11537673 0.00001
NM_003072.5(SMARCA4):c.608C>T (p.Ala203Val) rs780497718 0.00001
NM_003072.5(SMARCA4):c.622C>T (p.Arg208Trp) rs748298484 0.00001
NM_003072.5(SMARCA4):c.623G>A (p.Arg208Gln) rs769756381 0.00001
NM_003072.5(SMARCA4):c.630G>T (p.Met210Ile) rs1043452739 0.00001
NM_003072.5(SMARCA4):c.648G>C (p.Gln216His) rs878854236 0.00001
NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu) rs1227659334 0.00001
NM_003072.5(SMARCA4):c.682A>G (p.Thr228Ala) rs1021610405 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003072.5(SMARCA4):c.748A>G (p.Ser250Gly) rs774511507 0.00001
NM_003072.5(SMARCA4):c.761G>C (p.Gly254Ala) rs767708564 0.00001
NM_003072.5(SMARCA4):c.763A>G (p.Met255Val) rs754085815 0.00001
NM_003072.5(SMARCA4):c.805C>T (p.Pro269Ser) rs759641262 0.00001
NM_003072.5(SMARCA4):c.811G>A (p.Gly271Arg) rs769414440 0.00001
NM_003072.5(SMARCA4):c.829C>T (p.Pro277Ser) rs767947665 0.00001
NM_003072.5(SMARCA4):c.865A>G (p.Met289Val) rs750547893 0.00001
NM_003072.5(SMARCA4):c.869C>T (p.Ala290Val) rs763054014 0.00001
NM_003072.5(SMARCA4):c.872A>T (p.Asn291Ile) rs751791309 0.00001
NM_003072.5(SMARCA4):c.926G>T (p.Gly309Val) rs762999710 0.00001
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val) rs549254467 0.00001
NM_003072.5(SMARCA4):c.947C>T (p.Pro316Leu) rs878854245 0.00001
NM_003072.5(SMARCA4):c.94C>T (p.Pro32Ser) rs1304026031 0.00001
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile) rs758091260 0.00001
NM_003072.5(SMARCA4):c.958C>T (p.Pro320Ser) rs1460796481 0.00001
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu) rs910095001 0.00001
NM_003072.5(SMARCA4):c.961G>A (p.Ala321Thr) rs1344296942 0.00001
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met) rs1361910224 0.00001
NM_003072.5(SMARCA4):c.979C>A (p.Pro327Thr) rs770946823 0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu) rs370097699 0.00001
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003073.5(SMARCB1):c.620A>G (p.Asn207Ser) rs763872301 0.00001
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) rs771639613 0.00001
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) rs1482791997 0.00001
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys) rs1466882490 0.00001
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser) rs1250258763 0.00001
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) rs1167372383 0.00001
NM_006015.6(ARID1A):c.3539+5G>A rs750030197 0.00001
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu) rs781072025 0.00001
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu) rs1326693674 0.00001
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val) rs1463725053 0.00001
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys) rs781689378 0.00001
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser) rs777557012 0.00001
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly) rs1191962249 0.00001
NM_006268.5(DPF2):c.844A>T (p.Ile282Phe) rs1854515495 0.00001
NM_006268.5(DPF2):c.900C>T (p.Arg300=) rs775695232 0.00001
NC_000012.12:g.(56167013_56168930)del
NC_000022.11:g.23774226_23859697dup
NM_001128849.2(SMARCA4):c.*464G>T rs886054156
NM_001330288.2(SMARCC2):c.111+2T>C rs892217209
NM_001330288.2(SMARCC2):c.1142-1G>C rs1875550324
NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)
NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)
NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)
NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser) rs1877438087
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala) rs1877434002
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter) rs1877432240
NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)
NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)
NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)
NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro) rs762674487
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn) rs1872594253
NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val) rs1872567850
NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)
NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup) rs1872429981
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser) rs1876933164
NM_001330288.2(SMARCC2):c.770A>G (p.Tyr257Cys)
NM_001374828.1(ARID1B):c.*3T>C
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg) rs926297805
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)
NM_001374828.1(ARID1B):c.1278_1292del (p.Ala429_Ala433del) rs775733700
NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val)
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)
NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn)
NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu)
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr) rs1562378653
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs) rs1779022643
NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val)
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del)
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser) rs1349412123
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) rs2128635041
NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser)
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.3607A>C (p.Met1203Leu) rs760633180
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg) rs1453138221
NM_001374828.1(ARID1B):c.4480-8A>G rs1252519291
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys) rs1794051416
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)
NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly)
NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys) rs1340183572
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser) rs1794096456
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val) rs1794104878
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His)
NM_001374828.1(ARID1B):c.5693del (p.Lys1898fs)
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)
NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu)
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu) rs758748419
NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe) rs1794548648
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)
NM_001374828.1(ARID1B):c.6834C>G (p.Ser2278Arg) rs1794564510
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu)
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr) rs1323525221
NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys) rs1056234449
NM_001394372.1(BICRA):c.1224C>A (p.Asn408Lys)
NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)
NM_001394372.1(BICRA):c.1614C>A (p.Ser538Arg)
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln) rs2123605781
NM_001394372.1(BICRA):c.2428G>A (p.Val810Met)
NM_001394372.1(BICRA):c.2434C>T (p.Arg812Cys)
NM_001394372.1(BICRA):c.2774C>T (p.Thr925Ile)
NM_001394372.1(BICRA):c.3081C>T (p.Leu1027=)
NM_001394372.1(BICRA):c.334A>G (p.Asn112Asp)
NM_001394372.1(BICRA):c.3676C>T (p.Pro1226Ser)
NM_001394372.1(BICRA):c.3941_3948dup (p.Gly1317fs)
NM_001394372.1(BICRA):c.4253C>T (p.Pro1418Leu)
NM_001394372.1(BICRA):c.4649_4661dup (p.Ala1555fs)
NM_001394372.1(BICRA):c.937G>C (p.Ala313Pro)
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003072.5(SMARCA4):c.*4_*5dup rs2076919180
NM_003072.5(SMARCA4):c.-32+11C>T rs886054150
NM_003072.5(SMARCA4):c.1003C>A (p.Gln335Lys) rs374054124
NM_003072.5(SMARCA4):c.1030C>A (p.Pro344Thr) rs771509538
NM_003072.5(SMARCA4):c.1045C>G (p.Gln349Glu) rs1060502092
NM_003072.5(SMARCA4):c.1108C>T (p.Arg370Cys) rs1436490540
NM_003072.5(SMARCA4):c.1109G>A (p.Arg370His) rs878854197
NM_003072.5(SMARCA4):c.1111G>A (p.Glu371Lys) rs1599972601
NM_003072.5(SMARCA4):c.1119-5C>T rs1555756257
NM_003072.5(SMARCA4):c.1130G>A (p.Arg377His) rs1555756272
NM_003072.5(SMARCA4):c.1132A>G (p.Ile378Val) rs540717794
NM_003072.5(SMARCA4):c.1133T>C (p.Ile378Thr) rs1599995171
NM_003072.5(SMARCA4):c.1142G>A (p.Arg381Gln) rs749059769
NM_003072.5(SMARCA4):c.1163T>C (p.Leu388Pro) rs1555756337
NM_003072.5(SMARCA4):c.1205T>C (p.Ile402Thr) rs1599996370
NM_003072.5(SMARCA4):c.120C>G (p.His40Gln) rs375884151
NM_003072.5(SMARCA4):c.121A>G (p.Ser41Gly) rs1555750818
NM_003072.5(SMARCA4):c.124A>G (p.Met42Val) rs1060502081
NM_003072.5(SMARCA4):c.1264G>A (p.Val422Met) rs1555757536
NM_003072.5(SMARCA4):c.126G>C (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.126G>T (p.Met42Ile) rs765325777
NM_003072.5(SMARCA4):c.1273C>T (p.Arg425Trp) rs2145878488
NM_003072.5(SMARCA4):c.127A>T (p.Met43Leu) rs375812959
NM_003072.5(SMARCA4):c.1345G>A (p.Glu449Lys)
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser) rs1204677224
NM_003072.5(SMARCA4):c.1349C>T (p.Ala450Val) rs1555757651
NM_003072.5(SMARCA4):c.134C>A (p.Pro45His) rs367601832
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile) rs1057518862
NM_003072.5(SMARCA4):c.1481C>T (p.Thr494Ile) rs1060502098
NM_003072.5(SMARCA4):c.1513G>A (p.Ala505Thr) rs1555762079
NM_003072.5(SMARCA4):c.1526C>T (p.Ala509Val) rs1600068270
NM_003072.5(SMARCA4):c.154G>A (p.Ala52Thr) rs1060502103
NM_003072.5(SMARCA4):c.1594-3T>C rs1600081783
NM_003072.5(SMARCA4):c.162C>A (p.His54Gln) rs1330092211
NM_003072.5(SMARCA4):c.1645C>T (p.Arg549Cys) rs2087030906
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala) rs765974121
NM_003072.5(SMARCA4):c.1694C>T (p.Thr565Met) rs1600082359
NM_003072.5(SMARCA4):c.1705C>T (p.Arg569Trp) rs141090393
NM_003072.5(SMARCA4):c.1729G>A (p.Ala577Thr) rs1369374541
NM_003072.5(SMARCA4):c.1756AAG[2] (p.Lys588del) rs1429065030
NM_003072.5(SMARCA4):c.1761+5G>A rs1555763822
NM_003072.5(SMARCA4):c.1761+6C>T rs886054152
NM_003072.5(SMARCA4):c.1778_1780del (p.Glu593del) rs1484395538
NM_003072.5(SMARCA4):c.1802C>T (p.Pro601Leu) rs777544121
NM_003072.5(SMARCA4):c.1813-6_1813-4del rs1864896196
NM_003072.5(SMARCA4):c.181C>T (p.Pro61Ser) rs1555751015
NM_003072.5(SMARCA4):c.1820A>T (p.Asp607Val) rs1600132436
NM_003072.5(SMARCA4):c.182C>T (p.Pro61Leu) rs2085820972
NM_003072.5(SMARCA4):c.1836G>A (p.Met612Ile) rs1600132619
NM_003072.5(SMARCA4):c.1860C>G (p.Ile620Met) rs141751028
NM_003072.5(SMARCA4):c.1882C>A (p.Leu628Ile) rs1555768351
NM_003072.5(SMARCA4):c.1892C>T (p.Thr631Ile) rs1555768365
NM_003072.5(SMARCA4):c.1897_1898delinsAT (p.Ala633Ile) rs1600133041
NM_003072.5(SMARCA4):c.1906G>C (p.Ala636Pro) rs1600133106
NM_003072.5(SMARCA4):c.1964C>T (p.Ser655Phe) rs1555768701
NM_003072.5(SMARCA4):c.1985C>T (p.Ser662Leu) rs1060502104
NM_003072.5(SMARCA4):c.1994A>C (p.Glu665Ala) rs754483795
NM_003072.5(SMARCA4):c.2001+4A>G rs1343722342
NM_003072.5(SMARCA4):c.2002G>A (p.Glu668Lys) rs1060502105
NM_003072.5(SMARCA4):c.2014G>C (p.Glu672Gln) rs2088394203
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr) rs2088396631
NM_003072.5(SMARCA4):c.2036C>G (p.Pro679Arg) rs1555771583
NM_003072.5(SMARCA4):c.2048C>G (p.Pro683Arg) rs878854203
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu) rs878854203
NM_003072.5(SMARCA4):c.2051T>C (p.Val684Ala) rs979444190
NM_003072.5(SMARCA4):c.2057A>G (p.Glu686Gly) rs924158571
NM_003072.5(SMARCA4):c.2059A>G (p.Lys687Glu) rs751565055
NM_003072.5(SMARCA4):c.207G>A (p.Met69Ile) rs754815286
NM_003072.5(SMARCA4):c.207G>T (p.Met69Ile) rs754815286
NM_003072.5(SMARCA4):c.2084G>A (p.Ser695Asn) rs755519197
NM_003072.5(SMARCA4):c.2088T>A (p.Asp696Glu) rs1600168312
NM_003072.5(SMARCA4):c.2092G>A (p.Val698Ile) rs1600168349
NM_003072.5(SMARCA4):c.20C>A (p.Pro7His) rs1568416569
NM_003072.5(SMARCA4):c.2108C>T (p.Ala703Val) rs550731833
NM_003072.5(SMARCA4):c.2119_2121del (p.Ile707del) rs1555771687
NM_003072.5(SMARCA4):c.2124-3C>T rs1555773222
NM_003072.5(SMARCA4):c.2132A>G (p.Lys711Arg) rs1555773235
NM_003072.5(SMARCA4):c.223-4G>T rs763383326
NM_003072.5(SMARCA4):c.2230A>G (p.Lys744Glu) rs771723542
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_003072.5(SMARCA4):c.226A>G (p.Met76Val) rs1225673675
NM_003072.5(SMARCA4):c.2275-1G>C
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.227T>C (p.Met76Thr) rs1599940473
NM_003072.5(SMARCA4):c.2381C>T (p.Thr794Met) rs1193519882
NM_003072.5(SMARCA4):c.2402G>A (p.Arg801His) rs1568471266
NM_003072.5(SMARCA4):c.2450A>T (p.Asn817Ile) rs2146359567
NM_003072.5(SMARCA4):c.2455G>A (p.Ala819Thr) rs767743765
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser) rs1057524313
NM_003072.5(SMARCA4):c.2506-4G>A rs375670091
NM_003072.5(SMARCA4):c.2545C>T (p.Arg849Trp) rs1600257935
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2616+14G>T rs886054154
NM_003072.5(SMARCA4):c.2617-10G>T rs2146414345
NM_003072.5(SMARCA4):c.2636T>C (p.Ile879Thr) rs1600277882
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.265C>T (p.Arg89Cys) rs1568419849
NM_003072.5(SMARCA4):c.2699A>G (p.His900Arg) rs1600278214
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys) rs1555778721
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2783T>C (p.Leu928Pro) rs1555778801
NM_003072.5(SMARCA4):c.2859+8T>G rs1555778883
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003072.5(SMARCA4):c.2956G>A (p.Ala986Thr) rs1555779631
NM_003072.5(SMARCA4):c.295C>T (p.Arg99Trp) rs778890805
NM_003072.5(SMARCA4):c.296G>A (p.Arg99Gln) rs745406632
NM_003072.5(SMARCA4):c.2983G>A (p.Val995Ile) rs1600300689
NM_003072.5(SMARCA4):c.2995G>A (p.Asp999Asn) rs1555779989
NM_003072.5(SMARCA4):c.3021C>T (p.Leu1007=) rs1555780015
NM_003072.5(SMARCA4):c.303G>T (p.Gly101=) rs1170894634
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys) rs1555780047
NM_003072.5(SMARCA4):c.3101C>T (p.Thr1034Ile) rs1568493644
NM_003072.5(SMARCA4):c.311C>T (p.Ala104Val) rs1555752113
NM_003072.5(SMARCA4):c.313G>A (p.Gly105Arg) rs1060502074
NM_003072.5(SMARCA4):c.316A>G (p.Met106Val) rs773526113
NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala) rs1060502067
NM_003072.5(SMARCA4):c.3256G>A (p.Asp1086Asn) rs1600335439
NM_003072.5(SMARCA4):c.3272A>G (p.Lys1091Arg) rs1555781772
NM_003072.5(SMARCA4):c.3278G>A (p.Arg1093Gln) rs1568498301
NM_003072.5(SMARCA4):c.3280G>A (p.Ala1094Thr) rs1600335831
NM_003072.5(SMARCA4):c.3287A>G (p.Asn1096Ser) rs1354262139
NM_003072.5(SMARCA4):c.331A>G (p.Ser111Gly) rs1599941986
NM_003072.5(SMARCA4):c.3349G>T (p.Ala1117Ser) rs548906832
NM_003072.5(SMARCA4):c.337A>G (p.Met113Val) rs774919609
NM_003072.5(SMARCA4):c.3383-36C>T rs2146595699
NM_003072.5(SMARCA4):c.3442G>C (p.Glu1148Gln) rs1555783190
NM_003072.5(SMARCA4):c.350C>G (p.Ser117Cys) rs759594383
NM_003072.5(SMARCA4):c.3547-4C>T rs908652572
NM_003072.5(SMARCA4):c.355+4C>T rs1276835884
NM_003072.5(SMARCA4):c.355+5A>T rs999267729
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.356-4G>T rs765828645
NM_003072.5(SMARCA4):c.356G>A (p.Gly119Asp) rs1599948657
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3610C>T (p.Leu1204Phe) rs1555784504
NM_003072.5(SMARCA4):c.365C>T (p.Ser122Leu) rs1555752859
NM_003072.5(SMARCA4):c.3731G>A (p.Arg1244His) rs1060502060
NM_003072.5(SMARCA4):c.3774+3G>C rs1600390925
NM_003072.5(SMARCA4):c.3774+4A>G rs1600390948
NM_003072.5(SMARCA4):c.3775-4A>G rs926233307
NM_003072.5(SMARCA4):c.3814G>T (p.Ala1272Ser) rs776672640
NM_003072.5(SMARCA4):c.3830C>A (p.Pro1277Gln) rs746219091
NM_003072.5(SMARCA4):c.3836C>T (p.Ala1279Val) rs1232715199
NM_003072.5(SMARCA4):c.3855G>A (p.Leu1285=) rs1600394125
NM_003072.5(SMARCA4):c.3868C>G (p.Leu1290Val) rs1555784851
NM_003072.5(SMARCA4):c.3895G>A (p.Asp1299Asn) rs747286271
NM_003072.5(SMARCA4):c.3916A>G (p.Ile1306Val) rs1060502080
NM_003072.5(SMARCA4):c.3947T>A (p.Phe1316Tyr) rs1455103075
NM_003072.5(SMARCA4):c.3951+3A>G rs1600398046
NM_003072.5(SMARCA4):c.3954C>T (p.Arg1318=) rs1555785323
NM_003072.5(SMARCA4):c.3968G>A (p.Arg1323His) rs61750054
NM_003072.5(SMARCA4):c.3976G>A (p.Glu1326Lys) rs1482864360
NM_003072.5(SMARCA4):c.3985C>T (p.Arg1329Cys) rs878854219
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_003072.5(SMARCA4):c.3992C>T (p.Pro1331Leu) rs1568514190
NM_003072.5(SMARCA4):c.4055C>T (p.Ala1352Val) rs1568514549
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4102G>A (p.Gly1368Ser) rs1060502101
NM_003072.5(SMARCA4):c.4105C>T (p.Arg1369Cys) rs199962502
NM_003072.5(SMARCA4):c.4121G>A (p.Arg1374His) rs1060502070
NM_003072.5(SMARCA4):c.4188G>T (p.Thr1396=) rs199847974
NM_003072.5(SMARCA4):c.418T>C (p.Ser140Pro) rs1022140074
NM_003072.5(SMARCA4):c.4200C>G (p.Ile1400Met) rs577059244
NM_003072.5(SMARCA4):c.4201G>A (p.Glu1401Lys) rs756924224
NM_003072.5(SMARCA4):c.4210G>T (p.Val1404Phe) rs1555788108
NM_003072.5(SMARCA4):c.4231C>T (p.Arg1411Trp) rs755455174
NM_003072.5(SMARCA4):c.4258G>A (p.Gly1420Ser) rs772153816
NM_003072.5(SMARCA4):c.4259G>C (p.Gly1420Ala) rs1555788169
NM_003072.5(SMARCA4):c.4267A>G (p.Thr1423Ala) rs1258849439
NM_003072.5(SMARCA4):c.4274C>T (p.Thr1425Ile) rs1340211412
NM_003072.5(SMARCA4):c.427C>T (p.Pro143Ser) rs891010465
NM_003072.5(SMARCA4):c.4285C>T (p.Arg1429Cys) rs1060502069
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.4310_4311delinsAA (p.Ser1437Lys) rs864622722
NM_003072.5(SMARCA4):c.4342G>A (p.Ala1448Thr) rs761338885
NM_003072.5(SMARCA4):c.4345G>A (p.Glu1449Lys) rs1568528491
NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile) rs1555788341
NM_003072.5(SMARCA4):c.4391A>G (p.Lys1464Arg) rs1555788352
NM_003072.5(SMARCA4):c.4392G>T (p.Lys1464Asn) rs1600469159
NM_003072.5(SMARCA4):c.4394T>C (p.Ile1465Thr) rs1377505488
NM_003072.5(SMARCA4):c.4402G>T (p.Ala1468Ser) rs1600469287
NM_003072.5(SMARCA4):c.4417A>G (p.Lys1473Glu) rs878854227
NM_003072.5(SMARCA4):c.4424+5G>A rs756617788
NM_003072.5(SMARCA4):c.4432G>C (p.Gly1478Arg) rs2093999657
NM_003072.5(SMARCA4):c.4449G>C (p.Glu1483Asp) rs776843815
NM_003072.5(SMARCA4):c.4450G>A (p.Val1484Ile) rs1600629958
NM_003072.5(SMARCA4):c.4469C>T (p.Ser1490Leu) rs1329240441
NM_003072.5(SMARCA4):c.4478A>C (p.Glu1493Ala) rs1568560821
NM_003072.5(SMARCA4):c.4505G>A (p.Arg1502His) rs1555795063
NM_003072.5(SMARCA4):c.451G>A (p.Gly151Ser) rs962808170
NM_003072.5(SMARCA4):c.4538G>A (p.Arg1513His) rs1600635111
NM_003072.5(SMARCA4):c.4558C>T (p.Arg1520Cys) rs1057523119
NM_003072.5(SMARCA4):c.4570G>A (p.Asp1524Asn) rs2076693372
NM_003072.5(SMARCA4):c.4590G>A (p.Met1530Ile) rs1555795386
NM_003072.5(SMARCA4):c.4601A>G (p.Gln1534Arg)
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.4654G>A (p.Val1552Ile) rs1555795880
NM_003072.5(SMARCA4):c.4678G>A (p.Val1560Met) rs374983142
NM_003072.5(SMARCA4):c.4678G>T (p.Val1560Leu) rs374983142
NM_003072.5(SMARCA4):c.467G>A (p.Gly156Asp) rs1555753146
NM_003072.5(SMARCA4):c.4686G>C (p.Gln1562His) rs1600643911
NM_003072.5(SMARCA4):c.4696_4698del (p.Lys1566del) rs1375203306
NM_003072.5(SMARCA4):c.4700A>G (p.Glu1567Gly) rs1310082332
NM_003072.5(SMARCA4):c.4719G>C (p.Glu1573Asp) rs1306229985
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln) rs1555795999
NM_003072.5(SMARCA4):c.4742_4747dup (p.Gly1581_Glu1582dup) rs2055163263
NM_003072.5(SMARCA4):c.4759G>A (p.Glu1587Lys) rs1568564931
NM_003072.5(SMARCA4):c.4769C>T (p.Ser1590Phe) rs2076772762
NM_003072.5(SMARCA4):c.4798G>C (p.Gly1600Arg) rs1600648042
NM_003072.5(SMARCA4):c.4813G>C (p.Ala1605Pro) rs141224876
NM_003072.5(SMARCA4):c.4829A>C (p.Lys1610Thr) rs1555796263
NM_003072.5(SMARCA4):c.4840C>T (p.Arg1614Trp) rs1568565971
NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg) rs1600649183
NM_003072.5(SMARCA4):c.4870C>T (p.Pro1624Ser) rs1555796335
NM_003072.5(SMARCA4):c.4890C>A (p.Asp1630Glu) rs918621161
NM_003072.5(SMARCA4):c.4891A>T (p.Ser1631Cys) rs1600649575
NM_003072.5(SMARCA4):c.489G>T (p.Gly163=) rs1201612670
NM_003072.5(SMARCA4):c.4902A>C (p.Glu1634Asp) rs2147127066
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg) rs1568566518
NM_003072.5(SMARCA4):c.4905A>C (p.Gln1635His) rs908806258
NM_003072.5(SMARCA4):c.4909_4910delinsTT (p.Glu1637Leu) rs1600649855
NM_003072.5(SMARCA4):c.4910_4911+1del rs745740277
NM_003072.5(SMARCA4):c.4944A>T (p.Ter1648Cys) rs772894995
NM_003072.5(SMARCA4):c.529C>G (p.Leu177Val) rs1555753296
NM_003072.5(SMARCA4):c.534C>G (p.His178Gln) rs759429379
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu) rs1060502087
NM_003072.5(SMARCA4):c.557C>G (p.Ala186Gly)
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003072.5(SMARCA4):c.634G>A (p.Gly212Arg) rs886937766
NM_003072.5(SMARCA4):c.65C>A (p.Pro22His) rs1227659334
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.688C>A (p.Pro230Thr) rs760294422
NM_003072.5(SMARCA4):c.688C>T (p.Pro230Ser) rs760294422
NM_003072.5(SMARCA4):c.698G>A (p.Gly233Asp) rs878854238
NM_003072.5(SMARCA4):c.701C>T (p.Pro234Leu) rs572494136
NM_003072.5(SMARCA4):c.709G>A (p.Gly237Ser) rs1555753727
NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala) rs1060502057
NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg) rs772230026
NM_003072.5(SMARCA4):c.724C>T (p.Pro242Ser) rs1555753773
NM_003072.5(SMARCA4):c.729C>T (p.Gly243=) rs1031885122
NM_003072.5(SMARCA4):c.74_76del (p.Gly25del) rs1568416902
NM_003072.5(SMARCA4):c.750C>T (p.Ser250=) rs1242616857
NM_003072.5(SMARCA4):c.761-2A>T rs1479379455
NM_003072.5(SMARCA4):c.780G>A (p.Met260Ile) rs753962571
NM_003072.5(SMARCA4):c.782C>A (p.Pro261His) rs757327891
NM_003072.5(SMARCA4):c.790G>A (p.Gly264Arg) rs746036083
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988
NM_003072.5(SMARCA4):c.791G>T (p.Gly264Val) rs797045988
NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro) rs1599927930
NM_003072.5(SMARCA4):c.800G>A (p.Gly267Asp) rs746986969
NM_003072.5(SMARCA4):c.803_811del (p.Val268_Pro270del) rs1555754225
NM_003072.5(SMARCA4):c.859+3G>A rs1599958336
NM_003072.5(SMARCA4):c.860-3C>T rs1158136597
NM_003072.5(SMARCA4):c.862C>T (p.Pro288Ser) rs199573401
NM_003072.5(SMARCA4):c.865A>T (p.Met289Leu) rs750547893
NM_003072.5(SMARCA4):c.866T>C (p.Met289Thr) rs878854243
NM_003072.5(SMARCA4):c.88C>T (p.Pro30Ser) rs1599928968
NM_003072.5(SMARCA4):c.892A>T (p.Thr298Ser) rs878854244
NM_003072.5(SMARCA4):c.893C>T (p.Thr298Ile) rs748459210
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met) rs770322996
NM_003072.5(SMARCA4):c.928C>T (p.Arg310Cys) rs1555754899
NM_003072.5(SMARCA4):c.948T>A (p.Pro316=) rs1599968129
NM_003072.5(SMARCA4):c.955C>T (p.Pro319Ser) rs1555755005
NM_003072.5(SMARCA4):c.964G>T (p.Ala322Ser) rs1060502089
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile) rs1555755082
NM_003072.5(SMARCA4):c.995C>G (p.Ser332Cys) rs1013942482
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003073.5(SMARCB1):c.710T>G (p.Ile237Ser) rs2146009925
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.84C>G (p.Ile28Met)
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)
NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)
NM_003076.5(SMARCD1):c.142C>G (p.Leu48Val)
NM_003076.5(SMARCD1):c.1460C>G (p.Ala487Gly)
NM_003076.5(SMARCD1):c.253C>T (p.Pro85Ser)
NM_003076.5(SMARCD1):c.890T>C (p.Leu297Ser)
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr) rs2037085057
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn) rs751700497
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003079.5(SMARCE1):c.63C>T (p.Ser21=) rs1597749796
NM_003079.5(SMARCE1):c.772A>G (p.Lys258Glu)
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)
NM_003107.3(SOX4):c.1308dup (p.Glu437fs) rs1763138195
NM_003107.3(SOX4):c.1382A>T (p.Asp461Val) rs2113558999
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr) rs749184422
NM_003107.3(SOX4):c.173A>C (p.His58Pro) rs2113557050
NM_003107.3(SOX4):c.193G>A (p.Ala65Thr) rs2113557065
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs) rs1763101563
NM_003107.3(SOX4):c.362C>G (p.Ala121Gly)
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla) rs542004893
NM_003107.3(SOX4):c.618_626del (p.204AGG[1])
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del) rs1171444727
NM_003107.3(SOX4):c.746C>A (p.Pro249His) rs1763113909
NM_003107.3(SOX4):c.91_92delinsAA (p.Ala31Asn)
NM_003107.3(SOX4):c.965delinsAGGG (p.Leu322delinsGlnGly)
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe) rs991368727
NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys) rs1665683367
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) rs2103277224
NM_003108.4(SOX11):c.1153G>T (p.Ala385Ser)
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.142C>G (p.His48Asp) rs2103276319
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.294C>G (p.Phe98Leu)
NM_003108.4(SOX11):c.309GCGGCT[3] (p.104RL[3]) rs2103276417
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_003108.4(SOX11):c.400G>T (p.Ala134Ser)
NM_003108.4(SOX11):c.425C>G (p.Ala142Gly)
NM_003108.4(SOX11):c.527C>A (p.Ala176Glu)
NM_003108.4(SOX11):c.724G>C (p.Glu242Gln)
NM_003108.4(SOX11):c.787C>A (p.Pro263Thr) rs745675837
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=) rs1485078108
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp) rs1018092020
NM_006015.6(ARID1A):c.1350+1G>T
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys) rs2124788689
NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) rs2080256530
NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)
NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu) rs2080990909
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) rs1292150071
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg) rs2080999624
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) rs1285265984
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) rs2080257947
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg) rs2124070027
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) rs2124741075
NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) rs2081039231
NM_006015.6(ARID1A):c.2878+5G>A
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) rs2080258690
NM_006015.6(ARID1A):c.2988+3A>T
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys) rs2081052425
NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)
NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe) rs2081080248
NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)
NM_006015.6(ARID1A):c.3516G>C (p.Gln1172His)
NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)
NM_006015.6(ARID1A):c.4004+5G>A rs2081106391
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr) rs745873673
NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)
NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys) rs768023738
NM_006015.6(ARID1A):c.4868C>T (p.Ser1623Leu)
NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)
NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del) rs2124742134
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006015.6(ARID1A):c.5254A>G (p.Lys1752Glu) rs1348258521
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu) rs2124141958
NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del) rs2081176133
NM_006015.6(ARID1A):c.626A>T (p.Asn209Ile)
NM_006015.6(ARID1A):c.6425G>A (p.Ser2142Asn)
NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg) rs2124149077
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe) rs1240590332
NM_006015.6(ARID1A):c.849_854del (p.Gly284_Gly285del) rs766163118
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006268.5(DPF2):c.1045G>C (p.Asp349His) rs373186765
NM_006268.5(DPF2):c.203C>A (p.Ser68Tyr)
NM_006268.5(DPF2):c.364C>G (p.Leu122Val) rs1854369385
NM_006268.5(DPF2):c.397G>C (p.Ala133Pro)
NM_006268.5(DPF2):c.508G>C (p.Glu170Gln)
NM_006268.5(DPF2):c.904+20C>G rs1301059856
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912

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