ClinVar Miner

List of variants studied for Townes syndrome

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ClinVar version:
Total variants: 318
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98944
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06560
NM_002968.3(SALL1):c.2343G>C (p.Leu781=) rs60270998 0.05087
NM_002968.3(SALL1):c.2310C>T (p.Ile770=) rs61740811 0.04143
NM_002968.3(SALL1):c.2178G>A (p.Arg726=) rs144019351 0.01142
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_002968.3(SALL1):c.2544A>G (p.Gln848=) rs45459896 0.00908
NM_002968.3(SALL1):c.390G>A (p.Pro130=) rs75156807 0.00781
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00596
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00445
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00200
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00129
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00124
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser) rs199760974 0.00093
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00092
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser) rs61731136 0.00058
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00048
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00039
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn) rs76275412 0.00034
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00026
NM_002968.3(SALL1):c.676G>A (p.Val226Ile) rs149603480 0.00026
NM_002968.3(SALL1):c.1200G>A (p.Ser400=) rs79302764 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys) rs141135250 0.00022
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00020
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr) rs144782810 0.00017
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) rs138153478 0.00015
NM_002968.3(SALL1):c.9G>A (p.Arg3=) rs200987027 0.00015
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_002968.3(SALL1):c.549A>G (p.Thr183=) rs534104645 0.00013
NM_001079520.2(DACT1):c.936A>C (p.Lys312Asn) rs147190910 0.00012
NM_002968.3(SALL1):c.2805G>A (p.Thr935=) rs140241532 0.00011
NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn) rs201147024 0.00011
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) rs199701845 0.00011
NM_002968.3(SALL1):c.3666G>A (p.Ala1222=) rs150748596 0.00010
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_002968.3(SALL1):c.1566G>A (p.Thr522=) rs758422495 0.00009
NM_002968.3(SALL1):c.2373C>A (p.Gly791=) rs377295510 0.00009
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val) rs578198178 0.00009
NM_002968.3(SALL1):c.787G>T (p.Asp263Tyr) rs567084895 0.00009
NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu) rs200089484 0.00008
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00008
NM_002968.3(SALL1):c.651C>T (p.Gly217=) rs376803724 0.00008
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.1992G>A (p.Pro664=) rs754352358 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00007
NM_002968.3(SALL1):c.3886G>A (p.Gly1296Ser) rs766538484 0.00007
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) rs754902005 0.00007
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002968.3(SALL1):c.2223G>A (p.Arg741=) rs1430868205 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg) rs114000443 0.00006
NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) rs529030284 0.00006
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala) rs569940038 0.00006
NM_002968.3(SALL1):c.63C>T (p.Leu21=) rs536125319 0.00006
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser) rs140165636 0.00006
NM_002968.3(SALL1):c.2460C>T (p.Asp820=) rs199860897 0.00005
NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe) rs148016347 0.00005
NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys) rs199883962 0.00005
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00005
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) rs762072595 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_002968.3(SALL1):c.3327G>A (p.Pro1109=) rs375357921 0.00004
NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) rs776104367 0.00004
NM_002968.3(SALL1):c.406G>A (p.Gly136Ser) rs139152599 0.00004
NM_002968.3(SALL1):c.986C>T (p.Thr329Ile) rs886043094 0.00004
NM_002968.3(SALL1):c.1006G>A (p.Gly336Ser) rs776766459 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.1921G>A (p.Val641Ile) rs750975954 0.00003
NM_002968.3(SALL1):c.1955C>T (p.Ala652Val) rs770994694 0.00003
NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu) rs74886565 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.2356C>A (p.Arg786=) rs1352154808 0.00003
NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr) rs370527770 0.00003
NM_002968.3(SALL1):c.2436C>A (p.Ser812=) rs749605203 0.00003
NM_002968.3(SALL1):c.2643A>G (p.Leu881=) rs1239088376 0.00003
NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys) rs143517407 0.00003
NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr) rs752206117 0.00003
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) rs1375814966 0.00003
NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) rs535981732 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) rs376879952 0.00003
NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser) rs764123321 0.00003
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=) rs1366906259 0.00003
NM_002968.3(SALL1):c.39A>G (p.Gln13=) rs768989589 0.00003
NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) rs756723612 0.00003
NM_002968.3(SALL1):c.481G>A (p.Gly161Ser) rs758651425 0.00003
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu) rs750444836 0.00003
NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) rs761053549 0.00003
NM_002968.3(SALL1):c.1716G>A (p.Thr572=) rs561059866 0.00002
NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile) rs768794489 0.00002
NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr) rs776664263 0.00002
NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg) rs765581420 0.00002
NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser) rs759650758 0.00002
NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys) rs377342041 0.00002
NM_002968.3(SALL1):c.2452T>G (p.Phe818Val) rs1297554616 0.00002
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp) rs931050690 0.00002
NM_002968.3(SALL1):c.2511C>A (p.Ile837=) rs753477393 0.00002
NM_002968.3(SALL1):c.2589C>T (p.Ile863=) rs776017769 0.00002
NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser) rs773784402 0.00002
NM_002968.3(SALL1):c.3630C>T (p.Pro1210=) rs773228308 0.00002
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=) rs185996794 0.00002
NM_002968.3(SALL1):c.3768G>A (p.Gln1256=) rs886052081 0.00002
NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) rs767612617 0.00002
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu) rs576713482 0.00002
NM_002968.3(SALL1):c.442G>A (p.Ala148Thr) rs776395704 0.00002
NM_002968.3(SALL1):c.648C>T (p.Cys216=) rs1201617645 0.00002
NM_002968.3(SALL1):c.663G>C (p.Gly221=) rs780819473 0.00002
NM_002968.3(SALL1):c.972C>A (p.Ser324Arg) rs764423444 0.00002
NM_002968.3(SALL1):c.1014T>G (p.Ser338=) rs960886445 0.00001
NM_002968.3(SALL1):c.1030T>C (p.Leu344=) rs1438760160 0.00001
NM_002968.3(SALL1):c.1037C>T (p.Ala346Val) rs779513054 0.00001
NM_002968.3(SALL1):c.109A>T (p.Thr37Ser) rs1455978439 0.00001
NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser) rs1262719912 0.00001
NM_002968.3(SALL1):c.1350G>A (p.Lys450=) rs1339649887 0.00001
NM_002968.3(SALL1):c.1362C>T (p.Cys454=) rs1484915364 0.00001
NM_002968.3(SALL1):c.1398C>A (p.Ile466=) rs758330038 0.00001
NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu) rs183142673 0.00001
NM_002968.3(SALL1):c.1589T>G (p.Met530Arg) rs778754832 0.00001
NM_002968.3(SALL1):c.1731C>G (p.Pro577=) rs767216757 0.00001
NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser) rs775639714 0.00001
NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala) rs760757150 0.00001
NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser) rs1291932129 0.00001
NM_002968.3(SALL1):c.2181A>G (p.Thr727=) rs1962388882 0.00001
NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys) rs774950085 0.00001
NM_002968.3(SALL1):c.220G>A (p.Val74Ile) rs529479120 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.2397C>T (p.Pro799=) rs752496655 0.00001
NM_002968.3(SALL1):c.2461C>G (p.Leu821Val) rs766208261 0.00001
NM_002968.3(SALL1):c.246C>T (p.Pro82=) rs765733999 0.00001
NM_002968.3(SALL1):c.2535C>T (p.Asp845=) rs772861257 0.00001
NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser) rs752678352 0.00001
NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu) rs749947651 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002968.3(SALL1):c.2742T>C (p.Ala914=) rs1422318462 0.00001
NM_002968.3(SALL1):c.2862C>T (p.Ser954=) rs775808496 0.00001
NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) rs764408117 0.00001
NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) rs1238657472 0.00001
NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile) rs752822198 0.00001
NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser) rs781484844 0.00001
NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe) rs763725677 0.00001
NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp) rs1352323090 0.00001
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257 0.00001
NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu) rs763919896 0.00001
NM_002968.3(SALL1):c.3537A>G (p.Val1179=) rs776672993 0.00001
NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro) rs573638901 0.00001
NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile) rs1231648107 0.00001
NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val) rs1962320580 0.00001
NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys) rs775499747 0.00001
NM_002968.3(SALL1):c.429C>G (p.Ser143Arg) rs762993402 0.00001
NM_002968.3(SALL1):c.572T>C (p.Ile191Thr) rs1555475381 0.00001
NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) rs775143619 0.00001
NM_002968.3(SALL1):c.71G>T (p.Arg24Leu) rs1445941318 0.00001
NM_002968.3(SALL1):c.819T>A (p.Gly273=) rs531161104 0.00001
NC_000016.10:g.51151156G>C rs758439424
NC_000016.9:g.(?_49525186)_(51631253_?)del
NC_000016.9:g.(?_51185057)_(51185152_?)del
NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer) rs113614842
NM_002968.3(SALL1):c.1027dup (p.Ile343fs) rs2143448046
NM_002968.3(SALL1):c.1028dup (p.Leu344fs) rs2143448019
NM_002968.3(SALL1):c.1052C>T (p.Pro351Leu)
NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del) rs758101035
NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter) rs2506493255
NM_002968.3(SALL1):c.1199C>A (p.Ser400Ter)
NM_002968.3(SALL1):c.120G>T (p.Lys40Asn)
NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg) rs762697248
NM_002968.3(SALL1):c.1214C>T (p.Pro405Leu)
NM_002968.3(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.3(SALL1):c.1225A>G (p.Ile409Val) rs2506492997
NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala) rs2143447009
NM_002968.3(SALL1):c.1240G>T (p.Glu414Ter) rs2506492916
NM_002968.3(SALL1):c.1251C>T (p.Asn417=)
NM_002968.3(SALL1):c.1276A>G (p.Arg426Gly)
NM_002968.3(SALL1):c.1306T>G (p.Phe436Val) rs1418619556
NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter) rs2506492504
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu) rs201203066
NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly) rs756599740
NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter) rs188182072
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs) rs2143446012
NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser) rs149727960
NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys) rs1027802595
NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala) rs750142302
NM_002968.3(SALL1):c.1664T>A (p.Val555Asp)
NM_002968.3(SALL1):c.1665C>T (p.Val555=) rs201565524
NM_002968.3(SALL1):c.1728C>A (p.Ala576=) rs1414027666
NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile) rs2506490347
NM_002968.3(SALL1):c.1757G>A (p.Ser586Asn)
NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln) rs2506490304
NM_002968.3(SALL1):c.1828G>C (p.Glu610Gln)
NM_002968.3(SALL1):c.183C>T (p.His61=)
NM_002968.3(SALL1):c.1854A>G (p.Pro618=) rs2143444187
NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn) rs2506489831
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.1956G>A (p.Ala652=)
NM_002968.3(SALL1):c.2002G>A (p.Glu668Lys)
NM_002968.3(SALL1):c.2028T>C (p.Phe676=)
NM_002968.3(SALL1):c.2046A>G (p.Ser682=) rs771811348
NM_002968.3(SALL1):c.2070G>A (p.Lys690=) rs2506488543
NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr) rs1288798415
NM_002968.3(SALL1):c.2105C>T (p.Ala702Val) rs2143442756
NM_002968.3(SALL1):c.2130C>G (p.Ile710Met) rs2506488256
NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg) rs1195139692
NM_002968.3(SALL1):c.2214C>T (p.Ile738=)
NM_002968.3(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.3(SALL1):c.2283G>A (p.Pro761=)
NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs) rs2506487275
NM_002968.3(SALL1):c.2338G>A (p.Val780Ile)
NM_002968.3(SALL1):c.2343G>A (p.Leu781=) rs60270998
NM_002968.3(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.3(SALL1):c.2384A>G (p.Asn795Ser)
NM_002968.3(SALL1):c.2393T>G (p.Val798Gly) rs762701025
NM_002968.3(SALL1):c.2416A>G (p.Met806Val) rs770519898
NM_002968.3(SALL1):c.243A>C (p.Pro81=) rs199808632
NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys) rs1430757664
NM_002968.3(SALL1):c.2631G>A (p.Leu877=)
NM_002968.3(SALL1):c.268C>G (p.Pro90Ala)
NM_002968.3(SALL1):c.268C>T (p.Pro90Ser) rs749198993
NM_002968.3(SALL1):c.2699A>G (p.Asn900Ser)
NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg) rs1451625908
NM_002968.3(SALL1):c.2793G>A (p.Pro931=) rs147312225
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup) rs760807997
NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly) rs2506485227
NM_002968.3(SALL1):c.2801G>A (p.Ser934Asn)
NM_002968.3(SALL1):c.2828G>C (p.Ser943Thr)
NM_002968.3(SALL1):c.2831T>C (p.Ile944Thr)
NM_002968.3(SALL1):c.2850A>G (p.Arg950=)
NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) rs766899404
NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly) rs1327544170
NM_002968.3(SALL1):c.2920T>C (p.Ser974Pro)
NM_002968.3(SALL1):c.2922T>C (p.Ser974=)
NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys) rs2143438583
NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs) rs2506483483
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3180C>T (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3240G>A (p.Ser1080=)
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) rs148931484
NM_002968.3(SALL1):c.350del (p.Asn117fs)
NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) rs1030315086
NM_002968.3(SALL1):c.359A>T (p.Asp120Val) rs2506498279
NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) rs377652797
NM_002968.3(SALL1):c.3680G>T (p.Ser1227Ile)
NM_002968.3(SALL1):c.3801C>G (p.Leu1267=)
NM_002968.3(SALL1):c.3801C>T (p.Leu1267=) rs1450033371
NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) rs1962320266
NM_002968.3(SALL1):c.3963C>T (p.Ile1321=) rs200583558
NM_002968.3(SALL1):c.3966C>T (p.Val1322=) rs1962314280
NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr) rs1393016727
NM_002968.3(SALL1):c.420del (p.Ser141fs) rs1962442258
NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) rs553871743
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[8] (p.Ser158_Ser159del) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.45C>T (p.Asp15=) rs763257276
NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del) rs747995210
NM_002968.3(SALL1):c.469A>G (p.Ser157Gly)
NM_002968.3(SALL1):c.469_512dup (p.Ile172fs) rs2506496552
NM_002968.3(SALL1):c.471C>T (p.Ser157=) rs1314370026
NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr) rs2506496999
NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly) rs1555475415
NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del) rs1555475414
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414
NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly) rs1555475414
NM_002968.3(SALL1):c.495C>T (p.Ser165=)
NM_002968.3(SALL1):c.541G>A (p.Asp181Asn)
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) rs1417997778
NM_002968.3(SALL1):c.567C>G (p.Ser189=) rs79975375
NM_002968.3(SALL1):c.61C>A (p.Leu21Ile) rs2143479380
NM_002968.3(SALL1):c.630C>A (p.Phe210Leu) rs1422151716
NM_002968.3(SALL1):c.647G>C (p.Cys216Ser)
NM_002968.3(SALL1):c.664G>A (p.Gly222Ser)
NM_002968.3(SALL1):c.691del (p.Glu231fs) rs2143449682
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.3(SALL1):c.72A>C (p.Arg24=)
NM_002968.3(SALL1):c.750dup (p.Arg251fs) rs1962428520
NM_002968.3(SALL1):c.76+15C>A rs1962596028
NM_002968.3(SALL1):c.76+5G>A rs777802829
NM_002968.3(SALL1):c.77-5T>A rs1271308463
NM_002968.3(SALL1):c.801T>C (p.Ser267=) rs745771993
NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) rs1555475342
NM_002968.3(SALL1):c.825A>G (p.Leu275=)
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.3(SALL1):c.827G>C (p.Arg276Pro) rs752432804
NM_002968.3(SALL1):c.855A>G (p.Leu285=) rs762324270
NM_002968.3(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.3(SALL1):c.868T>C (p.Ser290Pro) rs2506494846
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs) rs2143448859
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) rs1962424706
NM_002968.3(SALL1):c.874C>T (p.Gln292Ter) rs2506494808
NM_002968.3(SALL1):c.878_887del (p.Leu293fs) rs2506494740
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs) rs2143448771
NM_002968.3(SALL1):c.928del (p.Ile310fs)
NM_002968.3(SALL1):c.952C>G (p.Pro318Ala)
NM_002968.3(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.983A>G (p.Asn328Ser) rs2506494300
NM_002968.3(SALL1):c.99G>A (p.Pro33=)

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