ClinVar Miner

List of variants in gene SPATA5 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 353
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HGVS dbSNP
NC_000004.11:g.(?_123868378)_(123900551_?)dup
NC_000004.11:g.(?_123977532)_(123978453_?)del
NC_000004.11:g.(?_124011714)_(124011880_?)del
NC_000004.11:g.(?_124011724)_(124177345_?)del
NC_000004.12:g.(?_122923123)_(123256200_?)dup
NC_000004.12:g.(?_122947213)_(122979406_?)dup
NC_000004.12:g.(?_123056367)_(123057308_?)del
NC_000004.12:g.(?_123056387)_(123057288_?)del
NM_145207.3(SPATA5):c.1004C>T (p.Thr335Ile)
NM_145207.3(SPATA5):c.1006G>A (p.Glu336Lys)
NM_145207.3(SPATA5):c.1010T>C (p.Ile337Thr)
NM_145207.3(SPATA5):c.1030C>T (p.Gln344Ter)
NM_145207.3(SPATA5):c.1039C>A (p.Gln347Lys)
NM_145207.3(SPATA5):c.1039_1040dup (p.Gln347fs) rs1578528119
NM_145207.3(SPATA5):c.1042T>C (p.Phe348Leu)
NM_145207.3(SPATA5):c.1045A>G (p.Lys349Glu)
NM_145207.3(SPATA5):c.1046A>G (p.Lys349Arg) rs146372781
NM_145207.3(SPATA5):c.1049T>A (p.Val350Glu) rs1286156167
NM_145207.3(SPATA5):c.1064T>G (p.Ile355Arg)
NM_145207.3(SPATA5):c.1069G>A (p.Gly357Arg)
NM_145207.3(SPATA5):c.1073del (p.Gly357_Leu358insTer) rs751291521
NM_145207.3(SPATA5):c.1075A>G (p.Ser359Gly)
NM_145207.3(SPATA5):c.1079G>A (p.Ser360Asn)
NM_145207.3(SPATA5):c.1084C>T (p.Leu362=)
NM_145207.3(SPATA5):c.1091C>T (p.Ala364Val)
NM_145207.3(SPATA5):c.1100A>T (p.Glu367Val) rs972337890
NM_145207.3(SPATA5):c.1113G>A (p.Leu371=) rs772031133
NM_145207.3(SPATA5):c.1121A>G (p.Lys374Arg)
NM_145207.3(SPATA5):c.1131G>A (p.Glu377=) rs139089747
NM_145207.3(SPATA5):c.1133T>G (p.Leu378Arg) rs1553955916
NM_145207.3(SPATA5):c.1142G>C (p.Ser381Thr)
NM_145207.3(SPATA5):c.1147+1_1147+5del
NM_145207.3(SPATA5):c.1151T>C (p.Ile384Thr) rs780025409
NM_145207.3(SPATA5):c.1154C>T (p.Pro385Leu) rs1553956091
NM_145207.3(SPATA5):c.1156G>A (p.Ala386Thr)
NM_145207.3(SPATA5):c.1159C>T (p.Pro387Ser) rs201751275
NM_145207.3(SPATA5):c.1169T>G (p.Val390Gly)
NM_145207.3(SPATA5):c.1191T>A (p.Gly397=) rs1578530704
NM_145207.3(SPATA5):c.1192A>G (p.Thr398Ala)
NM_145207.3(SPATA5):c.1209C>T (p.Ile403=) rs751925881
NM_145207.3(SPATA5):c.120G>T (p.Ala40=)
NM_145207.3(SPATA5):c.1222G>A (p.Ala408Thr)
NM_145207.3(SPATA5):c.1231G>T (p.Val411Phe)
NM_145207.3(SPATA5):c.124A>G (p.Thr42Ala)
NM_145207.3(SPATA5):c.1277+8C>T
NM_145207.3(SPATA5):c.1277+9A>G
NM_145207.3(SPATA5):c.1277A>C (p.Lys426Thr)
NM_145207.3(SPATA5):c.1278-10T>C rs376606287
NM_145207.3(SPATA5):c.127T>A (p.Ser43Thr)
NM_145207.3(SPATA5):c.128C>G (p.Ser43Cys)
NM_145207.3(SPATA5):c.1290G>A (p.Glu430=)
NM_145207.3(SPATA5):c.12GAA[1] (p.Lys5del)
NM_145207.3(SPATA5):c.1306C>T (p.Arg436Cys)
NM_145207.3(SPATA5):c.1333C>T (p.Arg445Ter)
NM_145207.3(SPATA5):c.1334+6_1334+9del rs752274594
NM_145207.3(SPATA5):c.1334G>A (p.Arg445Gln)
NM_145207.3(SPATA5):c.1336C>T (p.His446Tyr)
NM_145207.3(SPATA5):c.133A>G (p.Thr45Ala) rs1188216410
NM_145207.3(SPATA5):c.1343C>T (p.Ser448Leu) rs766034355
NM_145207.3(SPATA5):c.1345A>G (p.Ile449Val) rs1175885311
NM_145207.3(SPATA5):c.1359T>C (p.Asp453=)
NM_145207.3(SPATA5):c.1365G>A (p.Leu455=) rs767423681
NM_145207.3(SPATA5):c.1379C>T (p.Pro460Leu) rs752448565
NM_145207.3(SPATA5):c.1380G>A (p.Pro460=)
NM_145207.3(SPATA5):c.1392G>T (p.Gly464=)
NM_145207.3(SPATA5):c.13A>G (p.Lys5Glu)
NM_145207.3(SPATA5):c.1400A>G (p.Asn467Ser)
NM_145207.3(SPATA5):c.1401T>C (p.Asn467=) rs962940409
NM_145207.3(SPATA5):c.1416A>T (p.Arg472Ser)
NM_145207.3(SPATA5):c.1417G>C (p.Val473Leu)
NM_145207.3(SPATA5):c.1433T>C (p.Leu478Ser) rs1352778644
NM_145207.3(SPATA5):c.1441A>T (p.Met481Leu) rs769181441
NM_145207.3(SPATA5):c.1451T>C (p.Ile484Thr)
NM_145207.3(SPATA5):c.1458A>T (p.Ser486=)
NM_145207.3(SPATA5):c.1459-1G>A
NM_145207.3(SPATA5):c.1473A>G (p.Gly491=) rs1578556696
NM_145207.3(SPATA5):c.1473A>T (p.Gly491=)
NM_145207.3(SPATA5):c.1484T>C (p.Val495Ala)
NM_145207.3(SPATA5):c.1488T>G (p.Leu496=)
NM_145207.3(SPATA5):c.1495A>C (p.Thr499Pro)
NM_145207.3(SPATA5):c.1498A>G (p.Asn500Asp) rs770721082
NM_145207.3(SPATA5):c.1502G>A (p.Arg501His) rs148135198
NM_145207.3(SPATA5):c.1505C>T (p.Pro502Leu)
NM_145207.3(SPATA5):c.1508A>C (p.His503Pro)
NM_145207.3(SPATA5):c.1509T>C (p.His503=) rs771656456
NM_145207.3(SPATA5):c.151T>C (p.Leu51=)
NM_145207.3(SPATA5):c.1522G>A (p.Ala508Thr)
NM_145207.3(SPATA5):c.1523C>T (p.Ala508Val)
NM_145207.3(SPATA5):c.1525C>T (p.Leu509Phe)
NM_145207.3(SPATA5):c.1527C>T (p.Leu509=) rs6534369
NM_145207.3(SPATA5):c.1528C>T (p.Arg510Ter) rs267600009
NM_145207.3(SPATA5):c.1540C>T (p.Arg514Ter)
NM_145207.3(SPATA5):c.1542A>T (p.Arg514=)
NM_145207.3(SPATA5):c.1562T>C (p.Ile521Thr)
NM_145207.3(SPATA5):c.1564G>A (p.Gly522Arg)
NM_145207.3(SPATA5):c.1574A>G (p.Asn525Ser)
NM_145207.3(SPATA5):c.1574_1578del (p.Asn525fs) rs796051891
NM_145207.3(SPATA5):c.1579C>T (p.Gln527Ter)
NM_145207.3(SPATA5):c.1585C>T (p.Arg529Trp)
NM_145207.3(SPATA5):c.1586G>A (p.Arg529Gln) rs567175477
NM_145207.3(SPATA5):c.1587G>T (p.Arg529=) rs140187138
NM_145207.3(SPATA5):c.1592A>G (p.Asp531Gly) rs1578557046
NM_145207.3(SPATA5):c.15G>C (p.Lys5Asn)
NM_145207.3(SPATA5):c.1612C>T (p.Arg538Ter)
NM_145207.3(SPATA5):c.1616G>T (p.Arg539Met) rs74991481
NM_145207.3(SPATA5):c.1621C>T (p.Pro541Ser)
NM_145207.3(SPATA5):c.1622C>G (p.Pro541Arg) rs143957561
NM_145207.3(SPATA5):c.1622C>T (p.Pro541Leu) rs143957561
NM_145207.3(SPATA5):c.1632C>T (p.Leu544=) rs776611921
NM_145207.3(SPATA5):c.164-1053_446+1328dup
NM_145207.3(SPATA5):c.164-3T>C
NM_145207.3(SPATA5):c.164-4A>G
NM_145207.3(SPATA5):c.1647G>T (p.Leu549=)
NM_145207.3(SPATA5):c.1664G>C (p.Ser555Thr) rs111333879
NM_145207.3(SPATA5):c.1670A>C (p.His557Pro) rs373256503
NM_145207.3(SPATA5):c.1670A>G (p.His557Arg) rs373256503
NM_145207.3(SPATA5):c.1677C>A (p.Tyr559Ter) rs139834687
NM_145207.3(SPATA5):c.1677C>T (p.Tyr559=) rs139834687
NM_145207.3(SPATA5):c.1699T>C (p.Leu567=)
NM_145207.3(SPATA5):c.16A>G (p.Asn6Asp)
NM_145207.3(SPATA5):c.1714+10G>A rs1578557531
NM_145207.3(SPATA5):c.1714+1G>A rs149688478
NM_145207.3(SPATA5):c.1715-1G>C rs1263369560
NM_145207.3(SPATA5):c.1715-4A>G
NM_145207.3(SPATA5):c.1715-9T>C rs1578611841
NM_145207.3(SPATA5):c.1729C>T (p.Arg577Trp) rs201782536
NM_145207.3(SPATA5):c.1730G>A (p.Arg577Gln)
NM_145207.3(SPATA5):c.1737C>T (p.Ile579=) rs145527745
NM_145207.3(SPATA5):c.1741A>T (p.Lys581Ter)
NM_145207.3(SPATA5):c.1747C>T (p.Gln583Ter)
NM_145207.3(SPATA5):c.1748A>G (p.Gln583Arg)
NM_145207.3(SPATA5):c.1785G>T (p.Val595=) rs62324113
NM_145207.3(SPATA5):c.1788G>A (p.Lys596=) rs760721504
NM_145207.3(SPATA5):c.1793C>A (p.Thr598Asn)
NM_145207.3(SPATA5):c.1810C>G (p.Gln604Glu)
NM_145207.3(SPATA5):c.1810C>T (p.Gln604Ter)
NM_145207.3(SPATA5):c.1816A>G (p.Met606Val)
NM_145207.3(SPATA5):c.1820del (p.Asn607fs) rs1578612173
NM_145207.3(SPATA5):c.1822_1824del (p.Asp608del)
NM_145207.3(SPATA5):c.1833C>T (p.Pro611=) rs1391843100
NM_145207.3(SPATA5):c.183A>C (p.Lys61Asn)
NM_145207.3(SPATA5):c.1859A>G (p.Asp620Gly)
NM_145207.3(SPATA5):c.1862T>C (p.Val621Ala)
NM_145207.3(SPATA5):c.1868A>T (p.Asn623Ile)
NM_145207.3(SPATA5):c.1869+1G>T
NM_145207.3(SPATA5):c.1870-4dup
NM_145207.3(SPATA5):c.1870-9A>G
NM_145207.3(SPATA5):c.1873T>C (p.Ser625Pro)
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145207.3(SPATA5):c.1878G>T (p.Trp626Cys)
NM_145207.3(SPATA5):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(SPATA5):c.1887A>C (p.Ile629=)
NM_145207.3(SPATA5):c.1909C>G (p.Leu637Val) rs1303699326
NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu) rs560475969
NM_145207.3(SPATA5):c.1918G>C (p.Glu640Gln) rs35343500
NM_145207.3(SPATA5):c.192G>T (p.Gln64His)
NM_145207.3(SPATA5):c.1941A>G (p.Leu647=) rs1578710537
NM_145207.3(SPATA5):c.1956T>C (p.Ser652=)
NM_145207.3(SPATA5):c.1963C>G (p.Arg655Gly) rs763737752
NM_145207.3(SPATA5):c.1963C>T (p.Arg655Ter)
NM_145207.3(SPATA5):c.1964G>A (p.Arg655Gln) rs147873489
NM_145207.3(SPATA5):c.1964del (p.Arg655fs)
NM_145207.3(SPATA5):c.1967T>C (p.Met656Thr)
NM_145207.3(SPATA5):c.1978C>T (p.Pro660Ser)
NM_145207.3(SPATA5):c.1992T>C (p.Val664=)
NM_145207.3(SPATA5):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(SPATA5):c.1A>G (p.Met1Val) rs552219028
NM_145207.3(SPATA5):c.1A>T (p.Met1Leu) rs552219028
NM_145207.3(SPATA5):c.2000A>G (p.Tyr667Cys) rs998357703
NM_145207.3(SPATA5):c.2010T>C (p.Pro670=)
NM_145207.3(SPATA5):c.2017T>A (p.Ser673Thr)
NM_145207.3(SPATA5):c.201T>A (p.Leu67=)
NM_145207.3(SPATA5):c.2037G>A (p.Lys679=)
NM_145207.3(SPATA5):c.2038G>T (p.Ala680Ser) rs1578710903
NM_145207.3(SPATA5):c.2050G>A (p.Glu684Lys) rs774587301
NM_145207.3(SPATA5):c.2052G>C (p.Glu684Asp)
NM_145207.3(SPATA5):c.2055T>C (p.Ser685=)
NM_145207.3(SPATA5):c.206A>G (p.His69Arg)
NM_145207.3(SPATA5):c.2074A>G (p.Ile692Val) rs370427695
NM_145207.3(SPATA5):c.2075T>C (p.Ile692Thr)
NM_145207.3(SPATA5):c.2079+1dup rs1560894236
NM_145207.3(SPATA5):c.2079+6G>A rs1472949
NM_145207.3(SPATA5):c.207T>A (p.His69Gln)
NM_145207.3(SPATA5):c.2080-4G>T rs372642536
NM_145207.3(SPATA5):c.2081G>A (p.Gly694Glu) rs141576468
NM_145207.3(SPATA5):c.2088A>C (p.Glu696Asp)
NM_145207.3(SPATA5):c.2103T>C (p.Tyr701=) rs375587472
NM_145207.3(SPATA5):c.2117A>G (p.Glu706Gly)
NM_145207.3(SPATA5):c.2134-4C>G rs375025031
NM_145207.3(SPATA5):c.2140C>T (p.Arg714Ter)
NM_145207.3(SPATA5):c.2141G>A (p.Arg714Gln)
NM_145207.3(SPATA5):c.2144A>C (p.Lys715Thr)
NM_145207.3(SPATA5):c.2145_2151del (p.Ala716fs)
NM_145207.3(SPATA5):c.2160G>A (p.Ala720=) rs780763378
NM_145207.3(SPATA5):c.2172T>C (p.Ile724=)
NM_145207.3(SPATA5):c.2189A>G (p.Asp730Gly)
NM_145207.3(SPATA5):c.2191G>T (p.Ala731Ser)
NM_145207.3(SPATA5):c.2202T>C (p.Val734=) rs373009847
NM_145207.3(SPATA5):c.2214-16G>A
NM_145207.3(SPATA5):c.2214-5A>G rs1560952661
NM_145207.3(SPATA5):c.2219T>C (p.Leu740Ser) rs199626476
NM_145207.3(SPATA5):c.2225del (p.Ala742fs) rs1553983667
NM_145207.3(SPATA5):c.2229G>A (p.Gly743=) rs1578811280
NM_145207.3(SPATA5):c.2233G>A (p.Val745Ile)
NM_145207.3(SPATA5):c.2238C>T (p.Ala746=)
NM_145207.3(SPATA5):c.2239G>A (p.Asp747Asn) rs138229076
NM_145207.3(SPATA5):c.223A>G (p.Met75Val) rs1311055750
NM_145207.3(SPATA5):c.2242C>T (p.Arg748Cys)
NM_145207.3(SPATA5):c.2257C>T (p.Leu753Phe)
NM_145207.3(SPATA5):c.226A>C (p.Lys76Gln)
NM_145207.3(SPATA5):c.2284C>G (p.Gln762Glu) rs1207469751
NM_145207.3(SPATA5):c.229T>G (p.Ser77Ala) rs755797663
NM_145207.3(SPATA5):c.2306del (p.Leu769fs)
NM_145207.3(SPATA5):c.2320C>T (p.Arg774Cys)
NM_145207.3(SPATA5):c.2321G>A (p.Arg774His) rs539850739
NM_145207.3(SPATA5):c.2340+9G>A
NM_145207.3(SPATA5):c.2342C>G (p.Ala781Gly)
NM_145207.3(SPATA5):c.2343T>G (p.Ala781=) rs1579053359
NM_145207.3(SPATA5):c.2348T>G (p.Met783Arg)
NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg) rs1553934697
NM_145207.3(SPATA5):c.238A>G (p.Ile80Val)
NM_145207.3(SPATA5):c.2390C>T (p.Pro797Leu)
NM_145207.3(SPATA5):c.2391G>A (p.Pro797=)
NM_145207.3(SPATA5):c.2396C>A (p.Ala799Glu)
NM_145207.3(SPATA5):c.239T>C (p.Ile80Thr)
NM_145207.3(SPATA5):c.2405G>A (p.Arg802Lys)
NM_145207.3(SPATA5):c.2406A>C (p.Arg802Ser)
NM_145207.3(SPATA5):c.2409_2410del (p.Glu804fs) rs1560667008
NM_145207.3(SPATA5):c.2413A>G (p.Ile805Val)
NM_145207.3(SPATA5):c.243T>C (p.Cys81=)
NM_145207.3(SPATA5):c.2440C>T (p.Pro814Ser) rs1246300838
NM_145207.3(SPATA5):c.2456T>C (p.Val819Ala) rs149604630
NM_145207.3(SPATA5):c.2466T>C (p.Asp822=)
NM_145207.3(SPATA5):c.2469A>G (p.Glu823=)
NM_145207.3(SPATA5):c.2483C>G (p.Thr828Ser)
NM_145207.3(SPATA5):c.2484C>A (p.Thr828=) rs76934283
NM_145207.3(SPATA5):c.2485G>A (p.Asp829Asn) rs35206443
NM_145207.3(SPATA5):c.2485G>T (p.Asp829Tyr) rs35206443
NM_145207.3(SPATA5):c.2487C>T (p.Asp829=)
NM_145207.3(SPATA5):c.2505G>C (p.Glu835Asp)
NM_145207.3(SPATA5):c.250C>T (p.Arg84Ter)
NM_145207.3(SPATA5):c.251G>A (p.Arg84Gln) rs745858366
NM_145207.3(SPATA5):c.2526G>C (p.Glu842Asp)
NM_145207.3(SPATA5):c.2527G>A (p.Ala843Thr)
NM_145207.3(SPATA5):c.2531C>T (p.Ala844Val) rs796051892
NM_145207.3(SPATA5):c.2533C>T (p.Leu845Phe) rs777160273
NM_145207.3(SPATA5):c.2536C>T (p.Leu846=)
NM_145207.3(SPATA5):c.2586C>G (p.Phe862Leu)
NM_145207.3(SPATA5):c.2623G>A (p.Glu875Lys)
NM_145207.3(SPATA5):c.2629T>C (p.Leu877=) rs753879696
NM_145207.3(SPATA5):c.2635C>T (p.Arg879Cys) rs28716389
NM_145207.3(SPATA5):c.2636G>A (p.Arg879His)
NM_145207.3(SPATA5):c.2642A>G (p.Tyr881Cys)
NM_145207.3(SPATA5):c.2642A>T (p.Tyr881Phe)
NM_145207.3(SPATA5):c.2643T>C (p.Tyr881=)
NM_145207.3(SPATA5):c.2648A>G (p.Asp883Gly) rs780388261
NM_145207.3(SPATA5):c.2653C>G (p.Gln885Glu) rs1387497334
NM_145207.3(SPATA5):c.266C>G (p.Thr89Ser)
NM_145207.3(SPATA5):c.276C>T (p.Asn92=) rs775386233
NM_145207.3(SPATA5):c.277G>A (p.Gly93Arg) rs758521022
NM_145207.3(SPATA5):c.288+9C>G
NM_145207.3(SPATA5):c.289-8_289-7insAACATTTATTTC rs1463673475
NM_145207.3(SPATA5):c.289-9G>C rs756829452
NM_145207.3(SPATA5):c.28T>C (p.Leu10=)
NM_145207.3(SPATA5):c.298G>A (p.Ala100Thr) rs796051895
NM_145207.3(SPATA5):c.2T>C (p.Met1Thr) rs765170329
NM_145207.3(SPATA5):c.314G>C (p.Gly105Ala)
NM_145207.3(SPATA5):c.329A>G (p.Lys110Arg)
NM_145207.3(SPATA5):c.333C>T (p.Val111=)
NM_145207.3(SPATA5):c.367G>T (p.Val123Leu) rs150058325
NM_145207.3(SPATA5):c.372G>A (p.Arg124=)
NM_145207.3(SPATA5):c.384C>T (p.Ala128=) rs1351835391
NM_145207.3(SPATA5):c.394C>T (p.Gln132Ter) rs1220351376
NM_145207.3(SPATA5):c.398C>T (p.Pro133Leu)
NM_145207.3(SPATA5):c.410C>T (p.Ala137Val) rs778362935
NM_145207.3(SPATA5):c.416T>A (p.Leu139Gln) rs749960674
NM_145207.3(SPATA5):c.421del (p.Ala141fs)
NM_145207.3(SPATA5):c.426G>A (p.Glu142=) rs779704127
NM_145207.3(SPATA5):c.436G>A (p.Val146Met) rs374771569
NM_145207.3(SPATA5):c.446+1G>A rs1166181741
NM_145207.3(SPATA5):c.446+8T>C
NM_145207.3(SPATA5):c.447-2A>G
NM_145207.3(SPATA5):c.450C>T (p.Asp150=)
NM_145207.3(SPATA5):c.463A>G (p.Ile155Val)
NM_145207.3(SPATA5):c.484G>A (p.Gly162Ser)
NM_145207.3(SPATA5):c.492C>A (p.Ile164=) rs991945925
NM_145207.3(SPATA5):c.492C>T (p.Ile164=) rs991945925
NM_145207.3(SPATA5):c.505+10del
NM_145207.3(SPATA5):c.506-5T>C
NM_145207.3(SPATA5):c.506-7T>C rs769155617
NM_145207.3(SPATA5):c.535C>G (p.Leu179Val)
NM_145207.3(SPATA5):c.554G>A (p.Gly185Glu)
NM_145207.3(SPATA5):c.556C>T (p.Arg186Ter) rs796052095
NM_145207.3(SPATA5):c.560C>T (p.Pro187Leu) rs746128411
NM_145207.3(SPATA5):c.561G>A (p.Pro187=) rs545967731
NM_145207.3(SPATA5):c.566A>G (p.Lys189Arg)
NM_145207.3(SPATA5):c.577T>C (p.Leu193=)
NM_145207.3(SPATA5):c.580C>T (p.Arg194Ter)
NM_145207.3(SPATA5):c.585G>A (p.Val195=) rs372782312
NM_145207.3(SPATA5):c.59T>C (p.Leu20Ser)
NM_145207.3(SPATA5):c.601A>G (p.Met201Val) rs377137936
NM_145207.3(SPATA5):c.616C>A (p.Pro206Thr)
NM_145207.3(SPATA5):c.630T>A (p.Ser210=) rs763496930
NM_145207.3(SPATA5):c.637G>A (p.Asp213Asn) rs139066705
NM_145207.3(SPATA5):c.644A>G (p.Gln215Arg)
NM_145207.3(SPATA5):c.649A>G (p.Met217Val) rs533234061
NM_145207.3(SPATA5):c.65C>G (p.Ser22Cys) rs1560780127
NM_145207.3(SPATA5):c.661C>T (p.Gln221Ter) rs1553955672
NM_145207.3(SPATA5):c.665C>T (p.Ser222Phe) rs143998697
NM_145207.3(SPATA5):c.691T>C (p.Leu231=)
NM_145207.3(SPATA5):c.694T>C (p.Ser232Pro)
NM_145207.3(SPATA5):c.700C>A (p.Gln234Lys) rs775269863
NM_145207.3(SPATA5):c.700C>G (p.Gln234Glu)
NM_145207.3(SPATA5):c.700C>T (p.Gln234Ter) rs775269863
NM_145207.3(SPATA5):c.71C>G (p.Ala24Gly)
NM_145207.3(SPATA5):c.734T>G (p.Ile245Ser)
NM_145207.3(SPATA5):c.739A>G (p.Thr247Ala) rs1295604845
NM_145207.3(SPATA5):c.753T>G (p.Thr251=)
NM_145207.3(SPATA5):c.75C>T (p.Ser25=)
NM_145207.3(SPATA5):c.763C>A (p.Pro255Thr)
NM_145207.3(SPATA5):c.764C>A (p.Pro255Gln)
NM_145207.3(SPATA5):c.766A>G (p.Ile256Val) rs143384152
NM_145207.3(SPATA5):c.767T>C (p.Ile256Thr) rs55643281
NM_145207.3(SPATA5):c.774C>G (p.Asp258Glu)
NM_145207.3(SPATA5):c.778A>G (p.Ile260Val) rs200105631
NM_145207.3(SPATA5):c.77C>G (p.Ser26Cys)
NM_145207.3(SPATA5):c.785del (p.Asn262fs)
NM_145207.3(SPATA5):c.798T>C (p.Asp266=) rs369292228
NM_145207.3(SPATA5):c.799G>A (p.Val267Ile)
NM_145207.3(SPATA5):c.807G>T (p.Leu269=) rs17006342
NM_145207.3(SPATA5):c.80G>C (p.Cys27Ser) rs35430470
NM_145207.3(SPATA5):c.825T>G (p.Pro275=) rs533190093
NM_145207.3(SPATA5):c.830A>T (p.Asp277Val) rs150370442
NM_145207.3(SPATA5):c.847C>G (p.Leu283Val)
NM_145207.3(SPATA5):c.85G>T (p.Glu29Ter)
NM_145207.3(SPATA5):c.889A>G (p.Arg297Gly) rs568838818
NM_145207.3(SPATA5):c.896G>T (p.Gly299Val) rs75871497
NM_145207.3(SPATA5):c.899A>G (p.Asn300Ser)
NM_145207.3(SPATA5):c.911C>T (p.Thr304Ile)
NM_145207.3(SPATA5):c.92G>A (p.Arg31Gln)
NM_145207.3(SPATA5):c.930A>G (p.Leu310=) rs141742510
NM_145207.3(SPATA5):c.936C>T (p.Phe312=) rs1304551030
NM_145207.3(SPATA5):c.937A>C (p.Ser313Arg)
NM_145207.3(SPATA5):c.948A>G (p.Ala316=)
NM_145207.3(SPATA5):c.951G>A (p.Lys317=) rs1228490378
NM_145207.3(SPATA5):c.956A>G (p.Asn319Ser)
NM_145207.3(SPATA5):c.971A>T (p.Tyr324Phe)
NM_145207.3(SPATA5):c.97C>T (p.Pro33Ser)
NM_145207.3(SPATA5):c.980C>G (p.Ser327Cys)
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_145207.3(SPATA5):c.987A>G (p.Thr329=) rs759187216
NM_145207.3(SPATA5):c.996C>T (p.Val332=)
NM_145207.3(SPATA5):c.998A>G (p.Asn333Ser) rs1475303519

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