ClinVar Miner

List of variants in gene SKI reported as likely benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 349
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HGVS dbSNP gnomAD frequency
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr) rs61735580 0.00056
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003036.4(SKI):c.1033G>A (p.Ala345Thr) rs150934009 0.00035
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_003036.4(SKI):c.312A>T (p.Val104=) rs368195821 0.00029
NM_003036.4(SKI):c.1302G>A (p.Pro434=) rs111459205 0.00026
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772 0.00026
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp) rs201613746 0.00024
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890 0.00023
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210 0.00019
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037 0.00016
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_003036.4(SKI):c.1315G>A (p.Val439Ile) rs575093513 0.00012
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778 0.00011
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_003036.4(SKI):c.2141G>A (p.Arg714His) rs754486257 0.00010
NM_003036.4(SKI):c.1164G>A (p.Ala388=) rs780171614 0.00009
NM_003036.4(SKI):c.1269G>A (p.Pro423=) rs375600617 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705 0.00009
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_003036.4(SKI):c.170C>T (p.Ala57Val) rs1389185868 0.00008
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003036.4(SKI):c.1211+10C>T rs200242660 0.00006
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955 0.00006
NM_003036.4(SKI):c.1710C>T (p.Arg570=) rs766067033 0.00006
NM_003036.4(SKI):c.1923G>A (p.Leu641=) rs199666240 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003036.4(SKI):c.567G>C (p.Leu189=) rs752411031 0.00006
NM_003036.4(SKI):c.1096-5G>A rs566936949 0.00005
NM_003036.4(SKI):c.1212-15C>T rs200904079 0.00005
NM_003036.4(SKI):c.1212-8C>T rs370921440 0.00005
NM_003036.4(SKI):c.1242C>T (p.Ala414=) rs757550300 0.00005
NM_003036.4(SKI):c.1263C>T (p.Leu421=) rs773045410 0.00005
NM_003036.4(SKI):c.450C>T (p.Cys150=) rs538703800 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003036.4(SKI):c.1080C>T (p.Ala360=) rs200557598 0.00004
NM_003036.4(SKI):c.1096-6C>T rs201304370 0.00004
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077 0.00004
NM_003036.4(SKI):c.1406C>T (p.Ala469Val) rs746659856 0.00004
NM_003036.4(SKI):c.1456G>A (p.Val486Ile) rs200717031 0.00004
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977 0.00004
NM_003036.4(SKI):c.1711G>A (p.Val571Met) rs190373826 0.00004
NM_003036.4(SKI):c.1767+12G>A rs772577806 0.00004
NM_003036.4(SKI):c.227T>C (p.Leu76Pro) rs753070477 0.00004
NM_003036.4(SKI):c.543C>T (p.Asp181=) rs766957830 0.00004
NM_003036.4(SKI):c.696G>A (p.Leu232=) rs748272908 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_003036.4(SKI):c.978T>G (p.Ser326=) rs759010691 0.00004
NM_003036.4(SKI):c.1187A>G (p.His396Arg) rs987527805 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470 0.00003
NM_003036.4(SKI):c.1866G>A (p.Glu622=) rs748886393 0.00003
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502 0.00003
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078 0.00003
NM_003036.4(SKI):c.1999-19C>T rs1367620764 0.00003
NM_003036.4(SKI):c.2112G>A (p.Glu704=) rs1034542455 0.00003
NM_003036.4(SKI):c.2154G>T (p.Ala718=) rs778456446 0.00003
NM_003036.4(SKI):c.336C>T (p.Cys112=) rs752031916 0.00003
NM_003036.4(SKI):c.393G>A (p.Leu131=) rs748004059 0.00003
NM_003036.4(SKI):c.844C>A (p.Arg282=) rs753783431 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003036.4(SKI):c.1034C>T (p.Ala345Val) rs201599402 0.00002
NM_003036.4(SKI):c.1059C>T (p.Ser353=) rs375991331 0.00002
NM_003036.4(SKI):c.1153G>A (p.Ala385Thr) rs758235470 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003036.4(SKI):c.1382C>T (p.Thr461Ile) rs141464453 0.00002
NM_003036.4(SKI):c.1400C>T (p.Thr467Met) rs752151031 0.00002
NM_003036.4(SKI):c.1553C>T (p.Ala518Val) rs776056360 0.00002
NM_003036.4(SKI):c.1569G>A (p.Ser523=) rs767052019 0.00002
NM_003036.4(SKI):c.1596C>T (p.Ala532=) rs752673852 0.00002
NM_003036.4(SKI):c.1599C>T (p.Asp533=) rs758323266 0.00002
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser) rs1010245755 0.00002
NM_003036.4(SKI):c.1967C>T (p.Ala656Val) rs571976990 0.00002
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635 0.00002
NM_003036.4(SKI):c.209C>T (p.Pro70Leu) rs994969301 0.00002
NM_003036.4(SKI):c.2165G>A (p.Gly722Asp) rs1488554459 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003036.4(SKI):c.930A>G (p.Lys310=) rs751629802 0.00002
NM_003036.4(SKI):c.975C>T (p.Ser325=) rs753145672 0.00002
NM_003036.4(SKI):c.985C>T (p.Pro329Ser) rs770539313 0.00002
NM_003036.4(SKI):c.1005A>G (p.Lys335=) rs1057524639 0.00001
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln) rs200874294 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1188C>T (p.His396=) rs998931386 0.00001
NM_003036.4(SKI):c.1212-13C>G rs754988590 0.00001
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083 0.00001
NM_003036.4(SKI):c.1314C>T (p.Ala438=) rs554715623 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr) rs1325458157 0.00001
NM_003036.4(SKI):c.1411G>T (p.Val471Leu) rs745717087 0.00001
NM_003036.4(SKI):c.1422A>T (p.Pro474=) rs772286488 0.00001
NM_003036.4(SKI):c.1428G>C (p.Glu476Asp) rs776816870 0.00001
NM_003036.4(SKI):c.1474+8T>A rs1249714928 0.00001
NM_003036.4(SKI):c.1475-5C>T rs1640509294 0.00001
NM_003036.4(SKI):c.1476C>T (p.Phe492=) rs1006090345 0.00001
NM_003036.4(SKI):c.1485C>T (p.Ser495=) rs964817956 0.00001
NM_003036.4(SKI):c.1506G>A (p.Pro502=) rs975738197 0.00001
NM_003036.4(SKI):c.1521C>T (p.Ser507=) rs1430227962 0.00001
NM_003036.4(SKI):c.1530C>T (p.Ala510=) rs1216089588 0.00001
NM_003036.4(SKI):c.1554G>A (p.Ala518=) rs770050757 0.00001
NM_003036.4(SKI):c.1572C>T (p.Ala524=) rs1285131836 0.00001
NM_003036.4(SKI):c.1620G>A (p.Ala540=) rs529842293 0.00001
NM_003036.4(SKI):c.163G>C (p.Ala55Pro) rs769506718 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089 0.00001
NM_003036.4(SKI):c.1767+7G>A rs199962561 0.00001
NM_003036.4(SKI):c.1768-4C>T rs200246585 0.00001
NM_003036.4(SKI):c.1797G>A (p.Lys599=) rs767488534 0.00001
NM_003036.4(SKI):c.1833C>T (p.Asn611=) rs1557853907 0.00001
NM_003036.4(SKI):c.1860C>T (p.Arg620=) rs1002513362 0.00001
NM_003036.4(SKI):c.1878G>A (p.Lys626=) rs761614569 0.00001
NM_003036.4(SKI):c.1914G>A (p.Lys638=) rs752864137 0.00001
NM_003036.4(SKI):c.1998+9G>A rs533071160 0.00001
NM_003036.4(SKI):c.1999-11C>T rs1022360604 0.00001
NM_003036.4(SKI):c.1999-18C>T rs762184119 0.00001
NM_003036.4(SKI):c.1999-9C>T rs369496789 0.00001
NM_003036.4(SKI):c.2052G>T (p.Leu684=) rs1271020892 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003036.4(SKI):c.2133G>A (p.Pro711=) rs1640594973 0.00001
NM_003036.4(SKI):c.2138C>T (p.Ala713Val) rs1160688025 0.00001
NM_003036.4(SKI):c.2154G>A (p.Ala718=) rs778456446 0.00001
NM_003036.4(SKI):c.2172G>A (p.Ala724=) rs879070309 0.00001
NM_003036.4(SKI):c.258G>C (p.Leu86=) rs780679449 0.00001
NM_003036.4(SKI):c.300C>T (p.Arg100=) rs1286311989 0.00001
NM_003036.4(SKI):c.324G>A (p.Glu108=) rs201144990 0.00001
NM_003036.4(SKI):c.330C>T (p.Ile110=) rs764373577 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003036.4(SKI):c.438C>T (p.Leu146=) rs371061756 0.00001
NM_003036.4(SKI):c.480C>T (p.Ile160=) rs952491836 0.00001
NM_003036.4(SKI):c.498C>T (p.Ile166=) rs768733290 0.00001
NM_003036.4(SKI):c.553C>T (p.Leu185=) rs753251990 0.00001
NM_003036.4(SKI):c.611C>T (p.Ala204Val) rs772336192 0.00001
NM_003036.4(SKI):c.648C>G (p.Arg216=) rs1398417113 0.00001
NM_003036.4(SKI):c.663C>T (p.Tyr221=) rs762684190 0.00001
NM_003036.4(SKI):c.691C>T (p.Leu231=) rs1191109372 0.00001
NM_003036.4(SKI):c.699G>T (p.Val233=) rs1174147537 0.00001
NM_003036.4(SKI):c.702C>G (p.Pro234=) rs1057523205 0.00001
NM_003036.4(SKI):c.72C>T (p.Phe24=) rs953342598 0.00001
NM_003036.4(SKI):c.75C>T (p.His25=) rs1486448334 0.00001
NM_003036.4(SKI):c.81C>T (p.Ser27=) rs755325222 0.00001
NM_003036.4(SKI):c.900C>A (p.Leu300=) rs747649658 0.00001
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586 0.00001
NM_003036.4(SKI):c.918C>T (p.Asp306=) rs776475482 0.00001
NM_003036.4(SKI):c.970-10T>C rs750601690 0.00001
NM_003036.4(SKI):c.970-11A>G rs1640462475 0.00001
NM_003036.4(SKI):c.1025A>T (p.Gln342Leu) rs377336741
NM_003036.4(SKI):c.1035G>A (p.Ala345=)
NM_003036.4(SKI):c.1041C>G (p.Ser347=)
NM_003036.4(SKI):c.1056G>A (p.Pro352=)
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
NM_003036.4(SKI):c.1068G>T (p.Leu356=) rs1057523408
NM_003036.4(SKI):c.1095+10G>A
NM_003036.4(SKI):c.1095+11G>A
NM_003036.4(SKI):c.1095+17C>T
NM_003036.4(SKI):c.1095+20G>T
NM_003036.4(SKI):c.1101G>T (p.Leu367=) rs1411024116
NM_003036.4(SKI):c.1104C>T (p.Gly368=)
NM_003036.4(SKI):c.111T>C (p.Ala37=) rs2100789581
NM_003036.4(SKI):c.1125C>A (p.Arg375=)
NM_003036.4(SKI):c.1128C>A (p.Leu376=)
NM_003036.4(SKI):c.1149C>G (p.Ser383=)
NM_003036.4(SKI):c.1152C>G (p.Pro384=) rs200160702
NM_003036.4(SKI):c.117G>C (p.Ser39=)
NM_003036.4(SKI):c.1185A>G (p.Pro395=)
NM_003036.4(SKI):c.1194G>A (p.Pro398=)
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln) rs557289756
NM_003036.4(SKI):c.1211+8G>C rs1411361590
NM_003036.4(SKI):c.1211+9G>T
NM_003036.4(SKI):c.1212-16C>T
NM_003036.4(SKI):c.1212-6C>T rs752765206
NM_003036.4(SKI):c.1212-7C>T
NM_003036.4(SKI):c.1230C>T (p.Ser410=)
NM_003036.4(SKI):c.123C>T (p.Arg41=)
NM_003036.4(SKI):c.1248G>A (p.Ala416=) rs768317594
NM_003036.4(SKI):c.1248G>T (p.Ala416=)
NM_003036.4(SKI):c.1293C>T (p.Ser431=) rs2100918389
NM_003036.4(SKI):c.1308C>A (p.Ala436=)
NM_003036.4(SKI):c.1308C>G (p.Ala436=) rs139034124
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
NM_003036.4(SKI):c.1326C>T (p.Ala442=)
NM_003036.4(SKI):c.1350C>T (p.Thr450=)
NM_003036.4(SKI):c.138C>G (p.Ala46=) rs745527890
NM_003036.4(SKI):c.1410C>A (p.Pro470=)
NM_003036.4(SKI):c.1419C>T (p.Ala473=) rs748183781
NM_003036.4(SKI):c.1449G>A (p.Glu483=)
NM_003036.4(SKI):c.144G>A (p.Lys48=)
NM_003036.4(SKI):c.1474+14G>A rs780072344
NM_003036.4(SKI):c.1474+19C>G rs2100919153
NM_003036.4(SKI):c.1474+7del rs1640502180
NM_003036.4(SKI):c.1475-17C>T
NM_003036.4(SKI):c.1479C>T (p.Thr493=) rs754922214
NM_003036.4(SKI):c.1482C>T (p.Ser494=)
NM_003036.4(SKI):c.1514C>T (p.Thr505Ile)
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
NM_003036.4(SKI):c.1539G>T (p.Leu513=)
NM_003036.4(SKI):c.1566C>G (p.Pro522=)
NM_003036.4(SKI):c.1569G>C (p.Ser523=) rs767052019
NM_003036.4(SKI):c.1582G>C (p.Ala528Pro)
NM_003036.4(SKI):c.1587G>C (p.Ala529=) rs542301067
NM_003036.4(SKI):c.1601C>T (p.Ala534Val)
NM_003036.4(SKI):c.1647G>C (p.Leu549=)
NM_003036.4(SKI):c.1653C>T (p.Gly551=)
NM_003036.4(SKI):c.1677A>G (p.Lys559=) rs1569862103
NM_003036.4(SKI):c.1686C>T (p.Phe562=)
NM_003036.4(SKI):c.1710C>A (p.Arg570=)
NM_003036.4(SKI):c.1715A>G (p.Lys572Arg)
NM_003036.4(SKI):c.1728G>A (p.Lys576=)
NM_003036.4(SKI):c.1767+8G>A rs755258323
NM_003036.4(SKI):c.1768-20G>T rs375518657
NM_003036.4(SKI):c.1768-4C>G
NM_003036.4(SKI):c.1768-8G>T
NM_003036.4(SKI):c.1785C>G (p.Arg595=)
NM_003036.4(SKI):c.1818G>A (p.Thr606=) rs377110260
NM_003036.4(SKI):c.1827G>A (p.Lys609=) rs1324710541
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.183G>T (p.Pro61=)
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1863C>T (p.Ala621=) rs200702159
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1890C>A (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.189G>A (p.Pro63=)
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
NM_003036.4(SKI):c.1923G>T (p.Leu641=) rs199666240
NM_003036.4(SKI):c.1932G>A (p.Ala644=) rs1057521646
NM_003036.4(SKI):c.1965G>A (p.Glu655=) rs1475570086
NM_003036.4(SKI):c.1971C>T (p.Gly657=) rs878854598
NM_003036.4(SKI):c.1977G>A (p.Leu659=) rs1298626276
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
NM_003036.4(SKI):c.1983C>T (p.Ala661=) rs973734662
NM_003036.4(SKI):c.1998+10T>C
NM_003036.4(SKI):c.1999-12G>T
NM_003036.4(SKI):c.1999-14C>G
NM_003036.4(SKI):c.1999-14C>T
NM_003036.4(SKI):c.1999-7C>T
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2007C>T (p.Asp669=) rs750838146
NM_003036.4(SKI):c.200C>T (p.Ala67Val)
NM_003036.4(SKI):c.2043G>C (p.Arg681=) rs2100925770
NM_003036.4(SKI):c.2061C>T (p.Asp687=)
NM_003036.4(SKI):c.2067G>A (p.Leu689=)
NM_003036.4(SKI):c.2069G>A (p.Arg690Gln)
NM_003036.4(SKI):c.207G>A (p.Glu69=)
NM_003036.4(SKI):c.2082C>T (p.Ala694=)
NM_003036.4(SKI):c.2091C>T (p.His697=) rs1487847272
NM_003036.4(SKI):c.2103G>A (p.Val701=)
NM_003036.4(SKI):c.2109G>A (p.Lys703=)
NM_003036.4(SKI):c.2112_2113delinsAT (p.Glu704_Leu705=) rs2100925995
NM_003036.4(SKI):c.2139C>T (p.Ala713=)
NM_003036.4(SKI):c.2142C>T (p.Arg714=) rs1569868248
NM_003036.4(SKI):c.2153C>T (p.Ala718Val)
NM_003036.4(SKI):c.2166C>T (p.Gly722=)
NM_003036.4(SKI):c.2169T>G (p.Ala723=)
NM_003036.4(SKI):c.2172G>C (p.Ala724=) rs879070309
NM_003036.4(SKI):c.2175G>A (p.Glu725=) rs1381348497
NM_003036.4(SKI):c.2184G>A (p.Pro728=)
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.228G>A (p.Leu76=) rs1297091418
NM_003036.4(SKI):c.231C>T (p.Pro77=) rs1638568541
NM_003036.4(SKI):c.237C>G (p.Ile79Met)
NM_003036.4(SKI):c.261C>A (p.Pro87=) rs1257107710
NM_003036.4(SKI):c.267C>T (p.Pro89=)
NM_003036.4(SKI):c.270C>T (p.Phe90=) rs1436770788
NM_003036.4(SKI):c.279G>A (p.Pro93=) rs1638570161
NM_003036.4(SKI):c.27C>A (p.Gly9=) rs1476360335
NM_003036.4(SKI):c.282C>G (p.Ser94=)
NM_003036.4(SKI):c.312A>G (p.Val104=) rs368195821
NM_003036.4(SKI):c.313C>T (p.Leu105=)
NM_003036.4(SKI):c.318A>G (p.Glu106=) rs564817940
NM_003036.4(SKI):c.342G>T (p.Val114=) rs1057523880
NM_003036.4(SKI):c.351C>T (p.Gly117=) rs781703488
NM_003036.4(SKI):c.360C>A (p.Arg120=)
NM_003036.4(SKI):c.381C>T (p.Leu127=) rs371497152
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.405_406delinsTT (p.Ser135_Leu136=) rs2100790167
NM_003036.4(SKI):c.417C>A (p.Ile139=) rs144874401
NM_003036.4(SKI):c.420C>T (p.Asn140=) rs1013962872
NM_003036.4(SKI):c.423G>C (p.Ala141=)
NM_003036.4(SKI):c.444C>T (p.Ile148=) rs1391345174
NM_003036.4(SKI):c.453G>A (p.Ser151=)
NM_003036.4(SKI):c.468C>T (p.Asp156=)
NM_003036.4(SKI):c.489C>T (p.Val163=) rs373291824
NM_003036.4(SKI):c.48G>A (p.Gly16=)
NM_003036.4(SKI):c.516C>G (p.Pro172=) rs182513685
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003036.4(SKI):c.522C>T (p.Cys174=)
NM_003036.4(SKI):c.525G>A (p.Gly175=)
NM_003036.4(SKI):c.525G>T (p.Gly175=)
NM_003036.4(SKI):c.528C>T (p.Leu176=)
NM_003036.4(SKI):c.531C>T (p.Ile177=) rs1286351303
NM_003036.4(SKI):c.540G>C (p.Thr180=)
NM_003036.4(SKI):c.570C>T (p.Leu190=) rs1253539827
NM_003036.4(SKI):c.57G>A (p.Lys19=)
NM_003036.4(SKI):c.581C>A (p.Ala194Asp) rs746882046
NM_003036.4(SKI):c.584A>T (p.Tyr195Phe) rs1474048036
NM_003036.4(SKI):c.585C>T (p.Tyr195=)
NM_003036.4(SKI):c.612C>T (p.Ala204=) rs2100790564
NM_003036.4(SKI):c.631C>T (p.Leu211=)
NM_003036.4(SKI):c.636G>A (p.Glu212=) rs1461255065
NM_003036.4(SKI):c.654C>T (p.Val218=)
NM_003036.4(SKI):c.657C>T (p.Arg219=)
NM_003036.4(SKI):c.672C>T (p.Cys224=)
NM_003036.4(SKI):c.714C>T (p.Ser238=) rs1569660010
NM_003036.4(SKI):c.717C>T (p.Ser239=)
NM_003036.4(SKI):c.720G>A (p.Pro240=) rs1569660069
NM_003036.4(SKI):c.729C>T (p.Ala243=)
NM_003036.4(SKI):c.742C>T (p.Leu248=)
NM_003036.4(SKI):c.765G>C (p.Pro255=)
NM_003036.4(SKI):c.768G>A (p.Pro256=) rs1057521232
NM_003036.4(SKI):c.768G>T (p.Pro256=)
NM_003036.4(SKI):c.777C>T (p.Phe259=) rs2100790901
NM_003036.4(SKI):c.780G>A (p.Val260=)
NM_003036.4(SKI):c.786C>T (p.His262=)
NM_003036.4(SKI):c.789G>T (p.Ser263=)
NM_003036.4(SKI):c.828C>T (p.Phe276=)
NM_003036.4(SKI):c.840C>T (p.Asn280=) rs1423154745
NM_003036.4(SKI):c.84C>T (p.Ser28=)
NM_003036.4(SKI):c.858G>A (p.Leu286=)
NM_003036.4(SKI):c.867G>A (p.Gln289=)
NM_003036.4(SKI):c.903C>T (p.Gly301=)
NM_003036.4(SKI):c.915C>T (p.Asp305=) rs900879745
NM_003036.4(SKI):c.921G>A (p.Val307=)
NM_003036.4(SKI):c.924G>A (p.Lys308=)
NM_003036.4(SKI):c.951C>T (p.Tyr317=)
NM_003036.4(SKI):c.963G>T (p.Val321=)
NM_003036.4(SKI):c.969+10C>T
NM_003036.4(SKI):c.970-13dup
NM_003036.4(SKI):c.970-19A>G
NM_003036.4(SKI):c.970-4G>A
NM_003036.4(SKI):c.987G>C (p.Pro329=)
NM_003036.4(SKI):c.99C>T (p.Gly33=)
NM_003036.4(SKI):c.9G>C (p.Ala3=)

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