ClinVar Miner

List of variants reported as uncertain significance for Baller-Gerold syndrome by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 840
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HGVS dbSNP
NC_000008.10:g.(?_145736804)_(145738531_?)dup
NC_000008.10:g.(?_145736804)_(145743178_?)dup
NC_000008.10:g.(?_145736809)_(145739102_?)dup
NC_000008.10:g.(?_145736809)_(145739655_?)del
NC_000008.10:g.(?_145736809)_(145743174_?)dup
NC_000008.10:g.(?_145742976)_(145743178_?)dup
NM_004260.3(RECQL4):c.1009G>C (p.Ala337Pro) rs1171953080
NM_004260.3(RECQL4):c.1012C>T (p.Pro338Ser)
NM_004260.3(RECQL4):c.1013C>T (p.Pro338Leu) rs1554902388
NM_004260.3(RECQL4):c.1016T>C (p.Leu339Pro) rs1554902362
NM_004260.3(RECQL4):c.1021A>G (p.Ile341Val)
NM_004260.3(RECQL4):c.1027C>T (p.Pro343Ser)
NM_004260.3(RECQL4):c.1030C>T (p.Arg344Trp) rs768850000
NM_004260.3(RECQL4):c.1031G>A (p.Arg344Gln) rs745874353
NM_004260.3(RECQL4):c.1039C>T (p.Arg347Cys)
NM_004260.3(RECQL4):c.1040G>A (p.Arg347His) rs757988816
NM_004260.3(RECQL4):c.1040G>T (p.Arg347Leu)
NM_004260.3(RECQL4):c.1042C>T (p.His348Tyr) rs1060501360
NM_004260.3(RECQL4):c.1043A>G (p.His348Arg) rs201763704
NM_004260.3(RECQL4):c.1046A>G (p.Asp349Gly) rs566907631
NM_004260.3(RECQL4):c.1048A>G (p.Arg350Gly) rs878854639
NM_004260.3(RECQL4):c.1053C>T (p.Gly351=) rs1355050231
NM_004260.3(RECQL4):c.1058A>C (p.Tyr353Ser) rs1564805480
NM_004260.3(RECQL4):c.1060G>A (p.Val354Ile) rs551940973
NM_004260.3(RECQL4):c.1060G>T (p.Val354Leu)
NM_004260.3(RECQL4):c.1063C>T (p.Arg355Trp) rs368601097
NM_004260.3(RECQL4):c.1064G>A (p.Arg355Gln) rs374743591
NM_004260.3(RECQL4):c.1064G>C (p.Arg355Pro)
NM_004260.3(RECQL4):c.1065G>T (p.Arg355=)
NM_004260.3(RECQL4):c.106_108GAG[1] (p.Glu37del) rs1239043035
NM_004260.3(RECQL4):c.1073T>C (p.Met358Thr)
NM_004260.3(RECQL4):c.1077G>C (p.Lys359Asn)
NM_004260.3(RECQL4):c.1078C>G (p.Gln360Glu) rs375236875
NM_004260.3(RECQL4):c.1085A>G (p.His362Arg) rs1016687510
NM_004260.3(RECQL4):c.1090G>T (p.Val364Leu)
NM_004260.3(RECQL4):c.1092G>A (p.Val364=) rs1292950539
NM_004260.3(RECQL4):c.1094G>A (p.Arg365Gln) rs549497811
NM_004260.3(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749
NM_004260.3(RECQL4):c.1099C>G (p.Arg367Gly) rs531175632
NM_004260.3(RECQL4):c.1099C>T (p.Arg367Trp)
NM_004260.3(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677
NM_004260.3(RECQL4):c.1106T>G (p.Leu369Arg)
NM_004260.3(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398
NM_004260.3(RECQL4):c.1109G>A (p.Arg370His) rs377494266
NM_004260.3(RECQL4):c.1110T>C (p.Arg370=) rs560961607
NM_004260.3(RECQL4):c.1114A>G (p.Arg372Gly)
NM_004260.3(RECQL4):c.1116G>T (p.Arg372Ser) rs779492418
NM_004260.3(RECQL4):c.1117C>T (p.Leu373Phe) rs370125881
NM_004260.3(RECQL4):c.1123C>T (p.Arg375Cys) rs746423729
NM_004260.3(RECQL4):c.1124G>A (p.Arg375His) rs398124115
NM_004260.3(RECQL4):c.1128G>C (p.Lys376Asn)
NM_004260.3(RECQL4):c.1129C>G (p.Gln377Glu)
NM_004260.3(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681
NM_004260.3(RECQL4):c.1131+3A>G
NM_004260.3(RECQL4):c.1131+5G>A rs758482986
NM_004260.3(RECQL4):c.1131G>A (p.Gln377=)
NM_004260.3(RECQL4):c.1132-8C>A rs370660188
NM_004260.3(RECQL4):c.113C>G (p.Thr38Ser)
NM_004260.3(RECQL4):c.1144A>G (p.Lys382Glu) rs758161368
NM_004260.3(RECQL4):c.1151G>A (p.Arg384Gln) rs376045624
NM_004260.3(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854
NM_004260.3(RECQL4):c.1160G>T (p.Gly387Val) rs369815468
NM_004260.3(RECQL4):c.1165T>C (p.Cys389Arg)
NM_004260.3(RECQL4):c.1169T>G (p.Phe390Cys)
NM_004260.3(RECQL4):c.1175G>A (p.Gly392Asp) rs745923592
NM_004260.3(RECQL4):c.1187C>T (p.Thr396Ile)
NM_004260.3(RECQL4):c.119-5C>A rs759011490
NM_004260.3(RECQL4):c.1207T>C (p.Cys403Arg) rs754788578
NM_004260.3(RECQL4):c.1208G>A (p.Cys403Tyr)
NM_004260.3(RECQL4):c.1217A>G (p.Asn406Ser) rs1344133538
NM_004260.3(RECQL4):c.1219G>A (p.Glu407Lys) rs117670586
NM_004260.3(RECQL4):c.1220A>C (p.Glu407Ala)
NM_004260.3(RECQL4):c.1228G>A (p.Asp410Asn) rs558779399
NM_004260.3(RECQL4):c.1228G>C (p.Asp410His)
NM_004260.3(RECQL4):c.1229A>G (p.Asp410Gly) rs1554901692
NM_004260.3(RECQL4):c.1234T>C (p.Trp412Arg)
NM_004260.3(RECQL4):c.1240G>T (p.Ala414Ser) rs1188265182
NM_004260.3(RECQL4):c.1252C>T (p.Arg418Trp)
NM_004260.3(RECQL4):c.1253G>C (p.Arg418Pro)
NM_004260.3(RECQL4):c.1272C>G (p.Asp424Glu)
NM_004260.3(RECQL4):c.1276G>A (p.Asp426Asn) rs1048010208
NM_004260.3(RECQL4):c.127C>T (p.Arg43Trp) rs761113605
NM_004260.3(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231
NM_004260.3(RECQL4):c.1288C>T (p.Pro430Ser)
NM_004260.3(RECQL4):c.128G>A (p.Arg43Gln) rs1169021603
NM_004260.3(RECQL4):c.1306T>C (p.Ser436Pro) rs1564803061
NM_004260.3(RECQL4):c.1315C>T (p.Pro439Ser) rs776349086
NM_004260.3(RECQL4):c.1321C>T (p.Pro441Ser) rs557142414
NM_004260.3(RECQL4):c.1322C>T (p.Pro441Leu) rs943887894
NM_004260.3(RECQL4):c.1328T>G (p.Val443Gly) rs1554901232
NM_004260.3(RECQL4):c.1342C>G (p.Pro448Ala)
NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036
NM_004260.3(RECQL4):c.1348G>A (p.Val450Met) rs200941778
NM_004260.3(RECQL4):c.134A>T (p.Tyr45Phe) rs748521485
NM_004260.3(RECQL4):c.1357C>T (p.Leu453Phe) rs754354054
NM_004260.3(RECQL4):c.1364C>T (p.Ser455Phe)
NM_004260.3(RECQL4):c.136C>A (p.Arg46Ser) rs1268307700
NM_004260.3(RECQL4):c.136C>T (p.Arg46Cys)
NM_004260.3(RECQL4):c.1372C>T (p.Pro458Ser) rs761992231
NM_004260.3(RECQL4):c.1376C>T (p.Ser459Leu) rs774240479
NM_004260.3(RECQL4):c.1379G>A (p.Gly460Glu) rs764224012
NM_004260.3(RECQL4):c.1381C>A (p.Gln461Lys) rs1465965797
NM_004260.3(RECQL4):c.1383G>T (p.Gln461His) rs1395093722
NM_004260.3(RECQL4):c.1393A>G (p.Thr465Ala)
NM_004260.3(RECQL4):c.1394C>T (p.Thr465Met) rs899474226
NM_004260.3(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.3(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004260.3(RECQL4):c.1399G>A (p.Ala467Thr)
NM_004260.3(RECQL4):c.1406T>C (p.Val469Ala)
NM_004260.3(RECQL4):c.1412A>G (p.Gln471Arg) rs1162234134
NM_004260.3(RECQL4):c.1415C>T (p.Ala472Val) rs587778653
NM_004260.3(RECQL4):c.1432C>T (p.His478Tyr) rs750354218
NM_004260.3(RECQL4):c.1439C>T (p.Ala480Val)
NM_004260.3(RECQL4):c.1442T>G (p.Phe481Cys)
NM_004260.3(RECQL4):c.1444C>T (p.Arg482Cys) rs573164516
NM_004260.3(RECQL4):c.1445G>A (p.Arg482His) rs751616549
NM_004260.3(RECQL4):c.1456G>C (p.Glu486Gln) rs768311526
NM_004260.3(RECQL4):c.145A>C (p.Lys49Gln) rs1046890336
NM_004260.3(RECQL4):c.1460G>A (p.Arg487His) rs775200679
NM_004260.3(RECQL4):c.1462G>A (p.Ala488Thr)
NM_004260.3(RECQL4):c.1469T>C (p.Met490Thr) rs1554900934
NM_004260.3(RECQL4):c.1471C>T (p.Arg491Trp) rs746417965
NM_004260.3(RECQL4):c.1472G>A (p.Arg491Gln) rs777256889
NM_004260.3(RECQL4):c.1474A>G (p.Ile492Val) rs1564802069
NM_004260.3(RECQL4):c.1478T>C (p.Leu493Pro) rs1245043798
NM_004260.3(RECQL4):c.1483+6C>T
NM_004260.3(RECQL4):c.1484-3C>T rs372583903
NM_004260.3(RECQL4):c.1484-7del rs772909792
NM_004260.3(RECQL4):c.1488C>G (p.Ile496Met)
NM_004260.3(RECQL4):c.148C>T (p.Arg50Cys)
NM_004260.3(RECQL4):c.1493C>T (p.Thr498Met)
NM_004260.3(RECQL4):c.14_34del (p.Arg5_Leu11del)
NM_004260.3(RECQL4):c.14_34dup (p.Arg5_Leu11dup) rs1445577376
NM_004260.3(RECQL4):c.1513G>A (p.Gly505Ser)
NM_004260.3(RECQL4):c.1514G>A (p.Gly505Asp) rs1004394987
NM_004260.3(RECQL4):c.1518C>G (p.Ala506=)
NM_004260.3(RECQL4):c.1519G>A (p.Gly507Ser) rs587778655
NM_004260.3(RECQL4):c.1529T>C (p.Leu510Pro) rs1564801649
NM_004260.3(RECQL4):c.1532G>A (p.Cys511Tyr) rs1060501361
NM_004260.3(RECQL4):c.1538A>G (p.Gln513Arg) rs759124032
NM_004260.3(RECQL4):c.1547C>T (p.Ala516Val)
NM_004260.3(RECQL4):c.1555_1560del (p.Tyr519_Ser520del) rs1210416985
NM_004260.3(RECQL4):c.155C>T (p.Thr52Met) rs878854641
NM_004260.3(RECQL4):c.1561C>T (p.Arg521Trp) rs555407951
NM_004260.3(RECQL4):c.1568G>A (p.Ser523Asn)
NM_004260.3(RECQL4):c.156G>C (p.Thr52=) rs1399978369
NM_004260.3(RECQL4):c.1570C>T (p.Pro524Ser) rs374965803
NM_004260.3(RECQL4):c.157G>A (p.Gly53Ser)
NM_004260.3(RECQL4):c.1580C>G (p.Thr527Arg) rs766354337
NM_004260.3(RECQL4):c.1585_1587GTC[3] (p.Val530dup)
NM_004260.3(RECQL4):c.1588G>A (p.Val530Ile) rs1554900626
NM_004260.3(RECQL4):c.1592C>A (p.Ser531Tyr)
NM_004260.3(RECQL4):c.1609A>G (p.Met537Val)
NM_004260.3(RECQL4):c.1619A>C (p.Gln540Pro) rs754788555
NM_004260.3(RECQL4):c.1620+5G>A
NM_004260.3(RECQL4):c.1633C>T (p.Pro545Ser) rs1398698946
NM_004260.3(RECQL4):c.1637C>G (p.Pro546Arg)
NM_004260.3(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374
NM_004260.3(RECQL4):c.1645A>C (p.Lys549Gln) rs542466006
NM_004260.3(RECQL4):c.1647G>C (p.Lys549Asn)
NM_004260.3(RECQL4):c.1649C>G (p.Ala550Gly)
NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.3(RECQL4):c.1650G>A (p.Ala550=)
NM_004260.3(RECQL4):c.1652C>T (p.Ala551Val) rs587778643
NM_004260.3(RECQL4):c.1661A>G (p.His554Arg) rs779426316
NM_004260.3(RECQL4):c.1664C>T (p.Ser555Leu) rs755425093
NM_004260.3(RECQL4):c.166G>T (p.Gly56Cys)
NM_004260.3(RECQL4):c.1671G>A (p.Met557Ile) rs1564800052
NM_004260.3(RECQL4):c.1676G>A (p.Arg559Lys)
NM_004260.3(RECQL4):c.1677G>C (p.Arg559Ser)
NM_004260.3(RECQL4):c.1684C>T (p.Arg562Trp) rs61759892
NM_004260.3(RECQL4):c.1685G>A (p.Arg562Gln) rs375562152
NM_004260.3(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505
NM_004260.3(RECQL4):c.169G>A (p.Gly57Ser) rs1060501373
NM_004260.3(RECQL4):c.16G>A (p.Asp6Asn)
NM_004260.3(RECQL4):c.1704+3G>A rs1210896009
NM_004260.3(RECQL4):c.1704+6G>T
NM_004260.3(RECQL4):c.1704G>A (p.Lys568=) rs878854642
NM_004260.3(RECQL4):c.1705-7C>A
NM_004260.3(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405
NM_004260.3(RECQL4):c.1709G>A (p.Arg570Gln)
NM_004260.3(RECQL4):c.1720G>A (p.Val574Ile) rs368983561
NM_004260.3(RECQL4):c.1726G>A (p.Val576Met) rs570331496
NM_004260.3(RECQL4):c.1726G>T (p.Val576Leu)
NM_004260.3(RECQL4):c.1734G>A (p.Met578Ile)
NM_004260.3(RECQL4):c.1735C>G (p.Leu579Val)
NM_004260.3(RECQL4):c.1741C>A (p.Pro581Thr) rs776147492
NM_004260.3(RECQL4):c.1753G>T (p.Val585Leu)
NM_004260.3(RECQL4):c.1756G>T (p.Gly586Trp) rs878854643
NM_004260.3(RECQL4):c.1757G>A (p.Gly586Glu) rs1060501369
NM_004260.3(RECQL4):c.1759G>C (p.Ala587Pro)
NM_004260.3(RECQL4):c.175C>T (p.Leu59Phe) rs752508496
NM_004260.3(RECQL4):c.1763G>T (p.Gly588Val) rs1259051495
NM_004260.3(RECQL4):c.1765G>A (p.Gly589Ser) rs1060501364
NM_004260.3(RECQL4):c.1774C>T (p.Pro592Ser) rs1235051312
NM_004260.3(RECQL4):c.1778C>G (p.Ala593Gly) rs1286553686
NM_004260.3(RECQL4):c.1780G>A (p.Ala594Thr)
NM_004260.3(RECQL4):c.1783C>G (p.Gln595Glu)
NM_004260.3(RECQL4):c.1784A>C (p.Gln595Pro) rs762566552
NM_004260.3(RECQL4):c.1789C>T (p.Pro597Ser) rs764839023
NM_004260.3(RECQL4):c.1790C>T (p.Pro597Leu)
NM_004260.3(RECQL4):c.1793C>G (p.Pro598Arg)
NM_004260.3(RECQL4):c.179G>A (p.Arg60His)
NM_004260.3(RECQL4):c.179G>C (p.Arg60Pro) rs1060501374
NM_004260.3(RECQL4):c.1805C>T (p.Ala602Val) rs773424120
NM_004260.3(RECQL4):c.1807T>C (p.Cys603Arg) rs1060501379
NM_004260.3(RECQL4):c.1820C>G (p.Ala607Gly)
NM_004260.3(RECQL4):c.1822C>T (p.His608Tyr)
NM_004260.3(RECQL4):c.1824C>T (p.His608=) rs1308085391
NM_004260.3(RECQL4):c.1828C>T (p.Leu610Phe) rs751453635
NM_004260.3(RECQL4):c.1832C>T (p.Ser611Phe)
NM_004260.3(RECQL4):c.1837T>C (p.Trp613Arg) rs1394819507
NM_004260.3(RECQL4):c.1843C>A (p.His615Asn) rs1355971313
NM_004260.3(RECQL4):c.1844A>C (p.His615Pro)
NM_004260.3(RECQL4):c.1852C>T (p.Arg618Trp) rs766726409
NM_004260.3(RECQL4):c.1853G>A (p.Arg618Gln) rs776616498
NM_004260.3(RECQL4):c.1853G>C (p.Arg618Pro)
NM_004260.3(RECQL4):c.1858T>G (p.Cys620Gly) rs762061985
NM_004260.3(RECQL4):c.1867C>T (p.Arg623Cys)
NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) rs201734382
NM_004260.3(RECQL4):c.1870G>A (p.Val624Ile)
NM_004260.3(RECQL4):c.1871T>C (p.Val624Ala) rs370912793
NM_004260.3(RECQL4):c.1875C>T (p.Cys625=) rs1301085885
NM_004260.3(RECQL4):c.1879-9C>G
NM_004260.3(RECQL4):c.1885C>T (p.Arg629Trp) rs772074149
NM_004260.3(RECQL4):c.1886G>A (p.Arg629Gln) rs761794554
NM_004260.3(RECQL4):c.1886G>C (p.Arg629Pro) rs761794554
NM_004260.3(RECQL4):c.1891C>A (p.Arg631Ser)
NM_004260.3(RECQL4):c.1892G>A (p.Arg631His) rs771179943
NM_004260.3(RECQL4):c.1892G>C (p.Arg631Pro)
NM_004260.3(RECQL4):c.1894A>G (p.Met632Val) rs745309255
NM_004260.3(RECQL4):c.18_26dup (p.Asp6_Arg8dup) rs1554905167
NM_004260.3(RECQL4):c.1900G>A (p.Val634Met) rs747895651
NM_004260.3(RECQL4):c.1903C>T (p.His635Tyr) rs758743745
NM_004260.3(RECQL4):c.1909T>C (p.Phe637Leu) rs1554899485
NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848
NM_004260.3(RECQL4):c.191C>T (p.Ser64Leu) rs1554904702
NM_004260.3(RECQL4):c.1924_1929GCCACA[1] (p.642_643AT[1]) rs781471399
NM_004260.3(RECQL4):c.1924_1929GCCACA[3] (p.642_643AT[3]) rs781471399
NM_004260.3(RECQL4):c.1930G>A (p.Ala644Thr) rs774323224
NM_004260.3(RECQL4):c.1936C>T (p.Arg646Cys) rs398124116
NM_004260.3(RECQL4):c.1939C>G (p.Arg647Gly) rs775127620
NM_004260.3(RECQL4):c.1939C>T (p.Arg647Cys)
NM_004260.3(RECQL4):c.193C>T (p.Leu65Phe) rs1564811672
NM_004260.3(RECQL4):c.1940G>A (p.Arg647His) rs372664774
NM_004260.3(RECQL4):c.1940G>T (p.Arg647Leu) rs372664774
NM_004260.3(RECQL4):c.1942A>G (p.Thr648Ala)
NM_004260.3(RECQL4):c.1946C>G (p.Ala649Gly)
NM_004260.3(RECQL4):c.1958C>G (p.Ala653Gly)
NM_004260.3(RECQL4):c.1961A>G (p.Gln654Arg) rs534627012
NM_004260.3(RECQL4):c.1969G>A (p.Ala657Thr) rs993147176
NM_004260.3(RECQL4):c.1972G>A (p.Val658Met) rs373608888
NM_004260.3(RECQL4):c.1976C>G (p.Ala659Gly) rs1336325647
NM_004260.3(RECQL4):c.1978G>A (p.Glu660Lys) rs1035926081
NM_004260.3(RECQL4):c.1979A>G (p.Glu660Gly) rs762667669
NM_004260.3(RECQL4):c.1981G>A (p.Glu661Lys) rs775332504
NM_004260.3(RECQL4):c.1994A>G (p.His665Arg) rs1554899274
NM_004260.3(RECQL4):c.1996G>A (p.Gly666Arg)
NM_004260.3(RECQL4):c.2008G>A (p.Val670Ile) rs1484366007
NM_004260.3(RECQL4):c.2011C>G (p.Pro671Ala) rs1256215770
NM_004260.3(RECQL4):c.2011C>T (p.Pro671Ser)
NM_004260.3(RECQL4):c.202G>A (p.Ala68Thr)
NM_004260.3(RECQL4):c.2032G>A (p.Val678Met) rs780282337
NM_004260.3(RECQL4):c.2038A>G (p.Met680Val)
NM_004260.3(RECQL4):c.2039T>C (p.Met680Thr) rs372717152
NM_004260.3(RECQL4):c.2040G>A (p.Met680Ile) rs1474548278
NM_004260.3(RECQL4):c.2041G>T (p.Asp681Tyr)
NM_004260.3(RECQL4):c.2044A>G (p.Arg682Gly)
NM_004260.3(RECQL4):c.2058+3G>A rs1554899156
NM_004260.3(RECQL4):c.2058+4G>T
NM_004260.3(RECQL4):c.2058+5G>A
NM_004260.3(RECQL4):c.2059-10_2069dup rs1554898831
NM_004260.3(RECQL4):c.2059-5A>G rs370542063
NM_004260.3(RECQL4):c.2060C>G (p.Ala687Gly) rs1204590426
NM_004260.3(RECQL4):c.2063T>C (p.Leu688Pro)
NM_004260.3(RECQL4):c.2068A>T (p.Thr690Ser) rs1246782381
NM_004260.3(RECQL4):c.2069C>T (p.Thr690Met) rs369950284
NM_004260.3(RECQL4):c.2071C>G (p.Leu691Val)
NM_004260.3(RECQL4):c.2080G>A (p.Gly694Ser) rs750118023
NM_004260.3(RECQL4):c.2080G>C (p.Gly694Arg) rs750118023
NM_004260.3(RECQL4):c.2081G>A (p.Gly694Asp) rs887964523
NM_004260.3(RECQL4):c.2082C>T (p.Gly694=) rs767210998
NM_004260.3(RECQL4):c.2086C>T (p.Arg696Cys) rs531970883
NM_004260.3(RECQL4):c.2087G>A (p.Arg696His) rs1026729951
NM_004260.3(RECQL4):c.2087G>C (p.Arg696Pro)
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.2098C>T (p.Leu700Phe)
NM_004260.3(RECQL4):c.2099T>C (p.Leu700Pro) rs563222200
NM_004260.3(RECQL4):c.20T>G (p.Val7Gly) rs781721739
NM_004260.3(RECQL4):c.2107A>G (p.Ile703Val)
NM_004260.3(RECQL4):c.2113A>G (p.Ile705Val) rs374262706
NM_004260.3(RECQL4):c.2114T>C (p.Ile705Thr) rs1060501372
NM_004260.3(RECQL4):c.2123A>G (p.Asn708Ser) rs1564796315
NM_004260.3(RECQL4):c.2125C>G (p.Arg709Gly)
NM_004260.3(RECQL4):c.2125C>T (p.Arg709Trp) rs199562131
NM_004260.3(RECQL4):c.2126G>A (p.Arg709Gln) rs947223466
NM_004260.3(RECQL4):c.2128C>T (p.Arg710Cys) rs750126506
NM_004260.3(RECQL4):c.2129G>A (p.Arg710His)
NM_004260.3(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.3(RECQL4):c.213+10C>T rs565610567
NM_004260.3(RECQL4):c.213+4C>T rs768769944
NM_004260.3(RECQL4):c.213+6C>T rs1554904641
NM_004260.3(RECQL4):c.2134G>A (p.Asp712Asn) rs753254336
NM_004260.3(RECQL4):c.2136C>G (p.Asp712Glu)
NM_004260.3(RECQL4):c.213G>C (p.Glu71Asp) rs1564811591
NM_004260.3(RECQL4):c.214-3C>A rs367849648
NM_004260.3(RECQL4):c.2141A>G (p.Glu714Gly)
NM_004260.3(RECQL4):c.2143C>T (p.Arg715Trp) rs373292946
NM_004260.3(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551
NM_004260.3(RECQL4):c.2148C>G (p.Ile716Met) rs772168426
NM_004260.3(RECQL4):c.2149G>A (p.Ala717Thr) rs970075256
NM_004260.3(RECQL4):c.2153C>T (p.Ala718Val) rs769675968
NM_004260.3(RECQL4):c.215C>T (p.Ala72Val) rs763453097
NM_004260.3(RECQL4):c.2162G>A (p.Arg721Gln)
NM_004260.3(RECQL4):c.2174A>T (p.His725Leu) rs755481980
NM_004260.3(RECQL4):c.2176G>A (p.Ala726Thr) rs766748490
NM_004260.3(RECQL4):c.2179G>T (p.Ala727Ser)
NM_004260.3(RECQL4):c.2191G>A (p.Gly731Arg) rs1356416510
NM_004260.3(RECQL4):c.2195C>G (p.Ser732Cys) rs1060501366
NM_004260.3(RECQL4):c.2195C>T (p.Ser732Phe) rs1060501366
NM_004260.3(RECQL4):c.2196T>A (p.Ser732=)
NM_004260.3(RECQL4):c.2197G>A (p.Gly733Arg)
NM_004260.3(RECQL4):c.2198G>C (p.Gly733Ala) rs1060501359
NM_004260.3(RECQL4):c.2200+4C>A
NM_004260.3(RECQL4):c.2200+4C>T rs776670526
NM_004260.3(RECQL4):c.2200+5G>A rs770855894
NM_004260.3(RECQL4):c.2203C>T (p.Arg735Cys) rs760748569
NM_004260.3(RECQL4):c.2204G>C (p.Arg735Pro)
NM_004260.3(RECQL4):c.2204G>T (p.Arg735Leu) rs773155492
NM_004260.3(RECQL4):c.2207C>G (p.Ala736Gly) rs771790911
NM_004260.3(RECQL4):c.220G>C (p.Glu74Gln) rs765583077
NM_004260.3(RECQL4):c.221A>G (p.Glu74Gly) rs759778382
NM_004260.3(RECQL4):c.2221G>A (p.Ala741Thr)
NM_004260.3(RECQL4):c.2224G>A (p.Glu742Lys) rs377026680
NM_004260.3(RECQL4):c.2226G>T (p.Glu742Asp) rs200002105
NM_004260.3(RECQL4):c.2233C>T (p.His745Tyr) rs747466614
NM_004260.3(RECQL4):c.2236G>A (p.Ala746Thr) rs758736784
NM_004260.3(RECQL4):c.2237C>G (p.Ala746Gly) rs201883228
NM_004260.3(RECQL4):c.2237C>T (p.Ala746Val) rs201883228
NM_004260.3(RECQL4):c.2244G>A (p.Met748Ile)
NM_004260.3(RECQL4):c.2246G>A (p.Cys749Tyr)
NM_004260.3(RECQL4):c.224C>T (p.Pro75Leu)
NM_004260.3(RECQL4):c.2250C>G (p.Ser750Arg) rs761639839
NM_004260.3(RECQL4):c.2251C>T (p.Arg751Trp) rs750304658
NM_004260.3(RECQL4):c.2252G>A (p.Arg751Gln) rs559066300
NM_004260.3(RECQL4):c.2257C>T (p.Arg753Trp) rs367570292
NM_004260.3(RECQL4):c.2258G>A (p.Arg753Gln) rs540601452
NM_004260.3(RECQL4):c.2260C>T (p.Arg754Trp) rs193024188
NM_004260.3(RECQL4):c.2261G>A (p.Arg754Gln) rs190061994
NM_004260.3(RECQL4):c.2264G>A (p.Arg755Gln)
NM_004260.3(RECQL4):c.2273G>A (p.Arg758Gln)
NM_004260.3(RECQL4):c.2275G>A (p.Ala759Thr)
NM_004260.3(RECQL4):c.2276C>T (p.Ala759Val)
NM_004260.3(RECQL4):c.227G>A (p.Arg76His) rs771110626
NM_004260.3(RECQL4):c.2282T>C (p.Met761Thr)
NM_004260.3(RECQL4):c.2285A>G (p.Gln762Arg)
NM_004260.3(RECQL4):c.2296C>T (p.Arg766Trp)
NM_004260.3(RECQL4):c.2297G>A (p.Arg766Gln)
NM_004260.3(RECQL4):c.2299G>A (p.Val767Met) rs775137905
NM_004260.3(RECQL4):c.22C>T (p.Arg8Trp) rs1554905170
NM_004260.3(RECQL4):c.2303T>C (p.Val768Ala)
NM_004260.3(RECQL4):c.2307_2309dup (p.Ala770dup) rs748979321
NM_004260.3(RECQL4):c.230G>A (p.Cys77Tyr)
NM_004260.3(RECQL4):c.230G>T (p.Cys77Phe)
NM_004260.3(RECQL4):c.2312C>T (p.Thr771Met) rs770327474
NM_004260.3(RECQL4):c.2314G>A (p.Val772Met) rs1343306408
NM_004260.3(RECQL4):c.2317G>A (p.Ala773Thr)
NM_004260.3(RECQL4):c.2317_2318delinsTT (p.Ala773Phe) rs1564794977
NM_004260.3(RECQL4):c.2327T>C (p.Met776Thr) rs1554898312
NM_004260.3(RECQL4):c.2328G>A (p.Met776Ile) rs1368178192
NM_004260.3(RECQL4):c.2335G>A (p.Asp779Asn)
NM_004260.3(RECQL4):c.2338C>T (p.Arg780Trp) rs372741479
NM_004260.3(RECQL4):c.2339G>A (p.Arg780Gln) rs369488194
NM_004260.3(RECQL4):c.2339G>T (p.Arg780Leu)
NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706
NM_004260.3(RECQL4):c.2350C>T (p.Arg784Trp) rs753386714
NM_004260.3(RECQL4):c.2351G>A (p.Arg784Gln) rs536096413
NM_004260.3(RECQL4):c.2351G>C (p.Arg784Pro)
NM_004260.3(RECQL4):c.2353G>A (p.Ala785Thr) rs1060501362
NM_004260.3(RECQL4):c.2362C>A (p.His788Asn)
NM_004260.3(RECQL4):c.2362C>T (p.His788Tyr)
NM_004260.3(RECQL4):c.2364T>G (p.His788Gln) rs1410031368
NM_004260.3(RECQL4):c.2385C>A (p.Phe795Leu) rs587778644
NM_004260.3(RECQL4):c.2386G>A (p.Glu796Lys) rs746005466
NM_004260.3(RECQL4):c.2404G>A (p.Val802Met) rs897118164
NM_004260.3(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598
NM_004260.3(RECQL4):c.2411G>A (p.Arg804Gln) rs1060501375
NM_004260.3(RECQL4):c.2412_2420del (p.Ala805_Arg807del) rs766312203
NM_004260.3(RECQL4):c.2416G>A (p.Gly806Arg) rs767102398
NM_004260.3(RECQL4):c.2417G>A (p.Gly806Glu) rs762456224
NM_004260.3(RECQL4):c.2419C>T (p.Arg807Cys) rs764549158
NM_004260.3(RECQL4):c.2420G>A (p.Arg807His) rs571684398
NM_004260.3(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498
NM_004260.3(RECQL4):c.2434G>A (p.Ala812Thr) rs372372052
NM_004260.3(RECQL4):c.243T>G (p.His81Gln) rs1423806349
NM_004260.3(RECQL4):c.2443C>T (p.His815Tyr) rs1060501371
NM_004260.3(RECQL4):c.2449T>A (p.Phe817Ile) rs1364205283
NM_004260.3(RECQL4):c.2458_2463del (p.Pro820_Gln821del) rs1247860633
NM_004260.3(RECQL4):c.2463+3T>C rs538535710
NM_004260.3(RECQL4):c.2463+5G>A rs1264630646
NM_004260.3(RECQL4):c.2463G>A (p.Gln821=) rs1447984125
NM_004260.3(RECQL4):c.2464-6C>G rs1172497739
NM_004260.3(RECQL4):c.2466C>T (p.Gly822=) rs767528470
NM_004260.3(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522
NM_004260.3(RECQL4):c.2470G>A (p.Asp824Asn)
NM_004260.3(RECQL4):c.2470G>C (p.Asp824His) rs901313954
NM_004260.3(RECQL4):c.2473C>G (p.Leu825Val) rs371519199
NM_004260.3(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467
NM_004260.3(RECQL4):c.2485C>T (p.Arg829Cys) rs1470516114
NM_004260.3(RECQL4):c.2486G>A (p.Arg829His) rs375250269
NM_004260.3(RECQL4):c.2489G>A (p.Arg830Lys)
NM_004260.3(RECQL4):c.2491C>T (p.His831Tyr) rs370432468
NM_004260.3(RECQL4):c.2492A>G (p.His831Arg) rs754324912
NM_004260.3(RECQL4):c.2499C>T (p.His833=) rs377593129
NM_004260.3(RECQL4):c.2500G>A (p.Ala834Thr) rs767722327
NM_004260.3(RECQL4):c.2503G>A (p.Asp835Asn) rs373187237
NM_004260.3(RECQL4):c.2510C>T (p.Thr837Met)
NM_004260.3(RECQL4):c.2513A>C (p.Asp838Ala) rs1317677692
NM_004260.3(RECQL4):c.251G>A (p.Arg84Gln)
NM_004260.3(RECQL4):c.251G>C (p.Arg84Pro) rs745596664
NM_004260.3(RECQL4):c.2522C>T (p.Ala841Val) rs768110067
NM_004260.3(RECQL4):c.2524G>A (p.Val842Met)
NM_004260.3(RECQL4):c.2529G>T (p.Lys843Asn)
NM_004260.3(RECQL4):c.2531G>A (p.Arg844Lys) rs780474951
NM_004260.3(RECQL4):c.2540A>G (p.Gln847Arg) rs1320033045
NM_004260.3(RECQL4):c.2542C>T (p.Arg848Cys) rs757540549
NM_004260.3(RECQL4):c.2543G>A (p.Arg848His) rs368989729
NM_004260.3(RECQL4):c.2545G>A (p.Val849Met) rs201661055
NM_004260.3(RECQL4):c.2552C>T (p.Pro851Leu)
NM_004260.3(RECQL4):c.2558G>A (p.Cys853Tyr) rs998405899
NM_004260.3(RECQL4):c.2560A>C (p.Thr854Pro) rs1167670319
NM_004260.3(RECQL4):c.2561C>T (p.Thr854Ile) rs1167531855
NM_004260.3(RECQL4):c.2565C>T (p.Cys855=)
NM_004260.3(RECQL4):c.2572A>G (p.Thr858Ala)
NM_004260.3(RECQL4):c.2579C>T (p.Pro860Leu)
NM_004260.3(RECQL4):c.2582C>T (p.Pro861Leu) rs878854647
NM_004260.3(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798
NM_004260.3(RECQL4):c.2586G>A (p.Ser862=) rs201012205
NM_004260.3(RECQL4):c.2587G>A (p.Glu863Lys) rs747237323
NM_004260.3(RECQL4):c.2590C>A (p.Gln864Lys) rs1054186954
NM_004260.3(RECQL4):c.2596G>A (p.Gly866Arg) rs778081949
NM_004260.3(RECQL4):c.25G>A (p.Glu9Lys) rs1035057882
NM_004260.3(RECQL4):c.2602G>A (p.Val868Met) rs369250614
NM_004260.3(RECQL4):c.2605G>A (p.Gly869Ser)
NM_004260.3(RECQL4):c.2617C>G (p.Pro873Ala)
NM_004260.3(RECQL4):c.2617C>T (p.Pro873Ser)
NM_004260.3(RECQL4):c.2620G>A (p.Val874Met) rs1554897651
NM_004260.3(RECQL4):c.2620G>C (p.Val874Leu)
NM_004260.3(RECQL4):c.2624C>T (p.Pro875Leu) rs1249837985
NM_004260.3(RECQL4):c.2628G>C (p.Lys876Asn) rs1195462139
NM_004260.3(RECQL4):c.2632C>T (p.Pro878Ser)
NM_004260.3(RECQL4):c.2636C>T (p.Pro879Leu) rs137975310
NM_004260.3(RECQL4):c.2640A>G (p.Gln880=) rs776935762
NM_004260.3(RECQL4):c.2644G>A (p.Ala882Thr) rs771434161
NM_004260.3(RECQL4):c.2648A>G (p.Glu883Gly) rs1305824852
NM_004260.3(RECQL4):c.2652G>C (p.Gln884His) rs778275815
NM_004260.3(RECQL4):c.2653C>T (p.Leu885Phe) rs367559549
NM_004260.3(RECQL4):c.2663A>G (p.Gln888Arg) rs1564792721
NM_004260.3(RECQL4):c.2665G>A (p.Ala889Thr) rs754977025
NM_004260.3(RECQL4):c.2671C>A (p.Pro891Thr) rs757175211
NM_004260.3(RECQL4):c.2671C>G (p.Pro891Ala)
NM_004260.3(RECQL4):c.2684G>A (p.Arg895Lys)
NM_004260.3(RECQL4):c.2686G>C (p.Val896Leu) rs762644049
NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala)
NM_004260.3(RECQL4):c.2692A>G (p.Met898Val)
NM_004260.3(RECQL4):c.2704C>T (p.Arg902Trp) rs761231404
NM_004260.3(RECQL4):c.2705G>A (p.Arg902Gln) rs372205013
NM_004260.3(RECQL4):c.2710C>T (p.Leu904Phe) rs748437594
NM_004260.3(RECQL4):c.2713C>A (p.Pro905Thr)
NM_004260.3(RECQL4):c.2713C>T (p.Pro905Ser) rs778939539
NM_004260.3(RECQL4):c.2714C>T (p.Pro905Leu) rs768797926
NM_004260.3(RECQL4):c.2725A>G (p.Thr909Ala) rs1564792382
NM_004260.3(RECQL4):c.2726C>T (p.Thr909Ile)
NM_004260.3(RECQL4):c.2728G>A (p.Val910Ile) rs374225917
NM_004260.3(RECQL4):c.2732A>G (p.Gln911Arg)
NM_004260.3(RECQL4):c.2735C>G (p.Ala912Gly)
NM_004260.3(RECQL4):c.2740G>A (p.Asp914Asn) rs371327041
NM_004260.3(RECQL4):c.2743A>G (p.Met915Val) rs374898583
NM_004260.3(RECQL4):c.2747C>T (p.Pro916Leu) rs375049839
NM_004260.3(RECQL4):c.2750_2752AGG[1] (p.Glu918del) rs755113079
NM_004260.3(RECQL4):c.2752G>A (p.Glu918Lys)
NM_004260.3(RECQL4):c.2754G>A (p.Glu918=) rs1060501377
NM_004260.3(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072
NM_004260.3(RECQL4):c.2756-6C>G
NM_004260.3(RECQL4):c.2756-6C>T rs369289550
NM_004260.3(RECQL4):c.2758A>G (p.Ile920Val) rs780723602
NM_004260.3(RECQL4):c.2760C>A (p.Ile920=)
NM_004260.3(RECQL4):c.2761G>A (p.Glu921Lys) rs371890521
NM_004260.3(RECQL4):c.2765C>T (p.Thr922Ile) rs753044583
NM_004260.3(RECQL4):c.2774G>A (p.Cys925Tyr)
NM_004260.3(RECQL4):c.2776T>C (p.Tyr926His) rs1060501365
NM_004260.3(RECQL4):c.2779C>G (p.Leu927Val)
NM_004260.3(RECQL4):c.2780T>C (p.Leu927Pro)
NM_004260.3(RECQL4):c.2789A>G (p.His930Arg)
NM_004260.3(RECQL4):c.278C>T (p.Thr93Met)
NM_004260.3(RECQL4):c.2791C>G (p.Pro931Ala)
NM_004260.3(RECQL4):c.2791C>T (p.Pro931Ser)
NM_004260.3(RECQL4):c.2794C>T (p.His932Tyr) rs1554897279
NM_004260.3(RECQL4):c.2798A>G (p.His933Arg) rs1554897277
NM_004260.3(RECQL4):c.280C>T (p.Pro94Ser) rs1359100897
NM_004260.3(RECQL4):c.2816C>T (p.Ala939Val) rs561220929
NM_004260.3(RECQL4):c.281C>T (p.Pro94Leu)
NM_004260.3(RECQL4):c.2822C>G (p.Thr941Ser) rs1060501368
NM_004260.3(RECQL4):c.2825A>C (p.Tyr942Ser)
NM_004260.3(RECQL4):c.2834G>A (p.Cys945Tyr) rs1554897223
NM_004260.3(RECQL4):c.2836C>T (p.Arg946Cys)
NM_004260.3(RECQL4):c.2837G>A (p.Arg946His) rs773154902
NM_004260.3(RECQL4):c.2849C>G (p.Pro950Arg) rs769664095
NM_004260.3(RECQL4):c.2860G>C (p.Ala954Pro) rs1564791493
NM_004260.3(RECQL4):c.2861C>A (p.Ala954Asp)
NM_004260.3(RECQL4):c.2872G>A (p.Ala958Thr) rs1564791450
NM_004260.3(RECQL4):c.2873C>G (p.Ala958Gly)
NM_004260.3(RECQL4):c.2876T>G (p.Leu959Arg) rs1554897159
NM_004260.3(RECQL4):c.2879C>T (p.Ala960Val) rs373651108
NM_004260.3(RECQL4):c.2885+3A>T
NM_004260.3(RECQL4):c.2885+5G>A rs750560547
NM_004260.3(RECQL4):c.2885G>A (p.Arg962Lys) rs577462627
NM_004260.3(RECQL4):c.2886-7G>A rs757341042
NM_004260.3(RECQL4):c.2890C>T (p.Pro964Ser) rs33972310
NM_004260.3(RECQL4):c.2894C>T (p.Pro965Leu) rs766038992
NM_004260.3(RECQL4):c.28C>T (p.Arg10Trp)
NM_004260.3(RECQL4):c.2902G>A (p.Val968Met) rs1060501382
NM_004260.3(RECQL4):c.2907C>G (p.Cys969Trp) rs772780752
NM_004260.3(RECQL4):c.2910G>A (p.Leu970=)
NM_004260.3(RECQL4):c.2912C>T (p.Ala971Val)
NM_004260.3(RECQL4):c.2920C>G (p.Leu974Val) rs1263288809
NM_004260.3(RECQL4):c.2926G>A (p.Glu976Lys) rs35070885
NM_004260.3(RECQL4):c.2936G>A (p.Gly979Glu) rs1564790952
NM_004260.3(RECQL4):c.293G>T (p.Arg98Leu)
NM_004260.3(RECQL4):c.2941G>T (p.Gly981Cys) rs757541591
NM_004260.3(RECQL4):c.2948G>A (p.Ser983Asn)
NM_004260.3(RECQL4):c.2961T>G (p.Phe987Leu) rs1060501363
NM_004260.3(RECQL4):c.2962G>A (p.Asp988Asn) rs1554896950
NM_004260.3(RECQL4):c.2962G>T (p.Asp988Tyr)
NM_004260.3(RECQL4):c.2966T>G (p.Met989Arg) rs767220757
NM_004260.3(RECQL4):c.2967G>A (p.Met989Ile) rs200018416
NM_004260.3(RECQL4):c.2974C>G (p.Leu992Val) rs1564790741
NM_004260.3(RECQL4):c.2983T>A (p.Ser995Thr) rs373202723
NM_004260.3(RECQL4):c.2987T>C (p.Met996Thr) rs771326102
NM_004260.3(RECQL4):c.29G>A (p.Arg10Gln) rs1001894022
NM_004260.3(RECQL4):c.3002C>T (p.Ala1001Val)
NM_004260.3(RECQL4):c.3011G>A (p.Arg1004Gln) rs750261857
NM_004260.3(RECQL4):c.3013C>T (p.Arg1005Trp) rs368982201
NM_004260.3(RECQL4):c.3019C>T (p.Leu1007Phe) rs1342565479
NM_004260.3(RECQL4):c.3023G>A (p.Cys1008Tyr) rs1564790487
NM_004260.3(RECQL4):c.3032A>G (p.Gln1011Arg) rs765732606
NM_004260.3(RECQL4):c.3043G>A (p.Glu1015Lys) rs771381171
NM_004260.3(RECQL4):c.3046C>T (p.Pro1016Ser) rs1158975362
NM_004260.3(RECQL4):c.3049A>G (p.Arg1017Gly) rs747239208
NM_004260.3(RECQL4):c.304G>A (p.Val102Met) rs377536752
NM_004260.3(RECQL4):c.3050G>A (p.Arg1017Lys) rs1554896820
NM_004260.3(RECQL4):c.3055+4C>T
NM_004260.3(RECQL4):c.3055+5G>A rs377031190
NM_004260.3(RECQL4):c.3055+6C>T rs779017449
NM_004260.3(RECQL4):c.3056-5G>A rs774320251
NM_004260.3(RECQL4):c.3062G>C (p.Arg1021Pro) rs34666647
NM_004260.3(RECQL4):c.3065G>A (p.Arg1022His)
NM_004260.3(RECQL4):c.3065G>C (p.Arg1022Pro) rs560476442
NM_004260.3(RECQL4):c.3065G>T (p.Arg1022Leu) rs560476442
NM_004260.3(RECQL4):c.3067G>A (p.Gly1023Arg)
NM_004260.3(RECQL4):c.3088T>G (p.Phe1030Val) rs759912361
NM_004260.3(RECQL4):c.3092G>C (p.Ser1031Thr)
NM_004260.3(RECQL4):c.3101C>T (p.Ala1034Val)
NM_004260.3(RECQL4):c.3112C>T (p.Arg1038Cys) rs763078132
NM_004260.3(RECQL4):c.3113G>A (p.Arg1038His) rs374254271
NM_004260.3(RECQL4):c.3119C>A (p.Pro1040Gln)
NM_004260.3(RECQL4):c.3120G>A (p.Pro1040=) rs771832340
NM_004260.3(RECQL4):c.3131C>T (p.Thr1044Ile)
NM_004260.3(RECQL4):c.3136_3138GAG[1] (p.Glu1047del) rs747349932
NM_004260.3(RECQL4):c.3142_3144del (p.Lys1048del) rs772583454
NM_004260.3(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322
NM_004260.3(RECQL4):c.3145G>A (p.Asp1049Asn) rs1176326208
NM_004260.3(RECQL4):c.3154T>A (p.Cys1052Ser)
NM_004260.3(RECQL4):c.3161T>G (p.Phe1054Cys) rs1564789631
NM_004260.3(RECQL4):c.3163C>T (p.Leu1055Phe) rs769823922
NM_004260.3(RECQL4):c.3164T>C (p.Leu1055Pro) rs1060501380
NM_004260.3(RECQL4):c.316G>T (p.Gly106Trp) rs1379063242
NM_004260.3(RECQL4):c.3172C>G (p.Arg1058Gly) rs375297971
NM_004260.3(RECQL4):c.3172C>T (p.Arg1058Cys) rs375297971
NM_004260.3(RECQL4):c.3173G>A (p.Arg1058His) rs778819494
NM_004260.3(RECQL4):c.3184C>G (p.Arg1062Gly)
NM_004260.3(RECQL4):c.3184C>T (p.Arg1062Trp) rs199658221
NM_004260.3(RECQL4):c.3185G>A (p.Arg1062Gln) rs558058260
NM_004260.3(RECQL4):c.3185G>C (p.Arg1062Pro) rs558058260
NM_004260.3(RECQL4):c.3185_3199dup (p.Arg1062_Ala1066dup)
NM_004260.3(RECQL4):c.3190C>T (p.Arg1064Cys) rs781751586
NM_004260.3(RECQL4):c.3191G>A (p.Arg1064His) rs757703895
NM_004260.3(RECQL4):c.3205C>G (p.Arg1069Gly) rs758648484
NM_004260.3(RECQL4):c.3205C>T (p.Arg1069Cys) rs758648484
NM_004260.3(RECQL4):c.3206G>A (p.Arg1069His) rs752847936
NM_004260.3(RECQL4):c.3212G>A (p.Arg1071His) rs773856131
NM_004260.3(RECQL4):c.3218C>T (p.Thr1073Ile)
NM_004260.3(RECQL4):c.3227C>T (p.Ala1076Val)
NM_004260.3(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660
NM_004260.3(RECQL4):c.3236+4G>A rs575764344
NM_004260.3(RECQL4):c.3237-5C>G rs368617241
NM_004260.3(RECQL4):c.3238G>A (p.Val1080Ile) rs760241032
NM_004260.3(RECQL4):c.3242C>T (p.Ala1081Val) rs772617043
NM_004260.3(RECQL4):c.3248C>T (p.Pro1083Leu)
NM_004260.3(RECQL4):c.3253T>C (p.Cys1085Arg)
NM_004260.3(RECQL4):c.3256G>A (p.Gly1086Arg) rs587778646
NM_004260.3(RECQL4):c.3256G>C (p.Gly1086Arg) rs587778646
NM_004260.3(RECQL4):c.3259C>G (p.Pro1087Ala)
NM_004260.3(RECQL4):c.3262T>C (p.Cys1088Arg) rs1554896393
NM_004260.3(RECQL4):c.3265C>G (p.Leu1089Val)
NM_004260.3(RECQL4):c.3268G>A (p.Glu1090Lys)
NM_004260.3(RECQL4):c.3268G>C (p.Glu1090Gln) rs756401653
NM_004260.3(RECQL4):c.3286C>T (p.Arg1096Cys) rs371049072
NM_004260.3(RECQL4):c.3287G>A (p.Arg1096His) rs765087683
NM_004260.3(RECQL4):c.3301A>C (p.Lys1101Gln) rs1060501381
NM_004260.3(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.3(RECQL4):c.3316C>T (p.Arg1106Cys) rs770193726
NM_004260.3(RECQL4):c.3317G>A (p.Arg1106His) rs34236392
NM_004260.3(RECQL4):c.3319T>C (p.Tyr1107His) rs757342740
NM_004260.3(RECQL4):c.331G>A (p.Ala111Thr)
NM_004260.3(RECQL4):c.3325G>C (p.Glu1109Gln)
NM_004260.3(RECQL4):c.3327G>A (p.Glu1109=) rs992381749
NM_004260.3(RECQL4):c.3334G>A (p.Glu1112Lys)
NM_004260.3(RECQL4):c.3338G>A (p.Gly1113Glu) rs572936673
NM_004260.3(RECQL4):c.3342G>C (p.Gln1114His)
NM_004260.3(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582
NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys)
NM_004260.3(RECQL4):c.335A>G (p.Asn112Ser) rs372651895
NM_004260.3(RECQL4):c.335A>T (p.Asn112Ile)
NM_004260.3(RECQL4):c.3360G>C (p.Glu1120Asp) rs770246912
NM_004260.3(RECQL4):c.3361G>A (p.Asp1121Asn) rs377390897
NM_004260.3(RECQL4):c.3363C>A (p.Asp1121Glu) rs148752485
NM_004260.3(RECQL4):c.3364G>A (p.Ala1122Thr) rs369843844
NM_004260.3(RECQL4):c.3370G>A (p.Gly1124Ser)
NM_004260.3(RECQL4):c.3373C>A (p.Pro1125Thr)
NM_004260.3(RECQL4):c.3376G>A (p.Glu1126Lys)
NM_004260.3(RECQL4):c.3377A>G (p.Glu1126Gly)
NM_004260.3(RECQL4):c.3379C>T (p.Pro1127Ser) rs1418891842
NM_004260.3(RECQL4):c.3388G>A (p.Ala1130Thr)
NM_004260.3(RECQL4):c.3392G>T (p.Arg1131Ile) rs201369291
NM_004260.3(RECQL4):c.3393+5G>A rs1214839248
NM_004260.3(RECQL4):c.3394-9T>G rs746656592
NM_004260.3(RECQL4):c.3394C>T (p.Leu1132Phe) rs1554895894
NM_004260.3(RECQL4):c.3413A>G (p.Gln1138Arg) rs1554895884
NM_004260.3(RECQL4):c.3415G>T (p.Val1139Phe) rs1431803679
NM_004260.3(RECQL4):c.3419G>A (p.Arg1140His) rs767822615
NM_004260.3(RECQL4):c.3424G>A (p.Asp1142Asn) rs61755067
NM_004260.3(RECQL4):c.3424G>C (p.Asp1142His) rs61755067
NM_004260.3(RECQL4):c.3428T>C (p.Ile1143Thr)
NM_004260.3(RECQL4):c.3429C>G (p.Ile1143Met) rs529113837
NM_004260.3(RECQL4):c.3430C>T (p.Arg1144Cys) rs202134651
NM_004260.3(RECQL4):c.3431G>A (p.Arg1144His) rs746892308
NM_004260.3(RECQL4):c.3440T>C (p.Leu1147Pro) rs1446094881
NM_004260.3(RECQL4):c.3446T>C (p.Leu1149Pro) rs1358801934
NM_004260.3(RECQL4):c.3451C>T (p.Pro1151Ser) rs1554895829
NM_004260.3(RECQL4):c.3454G>A (p.Glu1152Lys) rs1554895824
NM_004260.3(RECQL4):c.3454_3456GAG[1] (p.Glu1153del) rs780986647
NM_004260.3(RECQL4):c.3457G>A (p.Glu1153Lys) rs564143545
NM_004260.3(RECQL4):c.345C>T (p.Gly115=)
NM_004260.3(RECQL4):c.3467C>T (p.Ser1156Phe)
NM_004260.3(RECQL4):c.3484C>T (p.Arg1162Cys)
NM_004260.3(RECQL4):c.3485G>A (p.Arg1162His)
NM_004260.3(RECQL4):c.3485G>C (p.Arg1162Pro)
NM_004260.3(RECQL4):c.3493C>G (p.His1165Asp)
NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser)
NM_004260.3(RECQL4):c.3496G>C (p.Gly1166Arg) rs779410033
NM_004260.3(RECQL4):c.3501C>T (p.Ile1167=) rs746323102
NM_004260.3(RECQL4):c.3502+1G>C rs757563486
NM_004260.3(RECQL4):c.3502+4A>G
NM_004260.3(RECQL4):c.3502G>A (p.Gly1168Arg) rs781543298
NM_004260.3(RECQL4):c.3503-5C>G rs539465528
NM_004260.3(RECQL4):c.3508C>T (p.Pro1170Ser)
NM_004260.3(RECQL4):c.3512G>A (p.Cys1171Tyr) rs748529710
NM_004260.3(RECQL4):c.3515A>G (p.Tyr1172Cys) rs779070043
NM_004260.3(RECQL4):c.3518C>T (p.Pro1173Leu) rs1375776479
NM_004260.3(RECQL4):c.3521C>A (p.Ala1174Asp) rs587778648
NM_004260.3(RECQL4):c.3521C>T (p.Ala1174Val) rs587778648
NM_004260.3(RECQL4):c.3526G>A (p.Val1176Met)
NM_004260.3(RECQL4):c.3526G>C (p.Val1176Leu)
NM_004260.3(RECQL4):c.3528G>A (p.Val1176=) rs763965257
NM_004260.3(RECQL4):c.3530A>G (p.Tyr1177Cys) rs1341756990
NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178
NM_004260.3(RECQL4):c.3532G>T (p.Gly1178Trp)
NM_004260.3(RECQL4):c.353A>G (p.Gln118Arg)
NM_004260.3(RECQL4):c.354+5G>T rs780212446
NM_004260.3(RECQL4):c.3541C>T (p.Arg1181Ter) rs765804620
NM_004260.3(RECQL4):c.3542G>A (p.Arg1181Gln) rs370069034
NM_004260.3(RECQL4):c.3542G>T (p.Arg1181Leu)
NM_004260.3(RECQL4):c.3544C>T (p.Arg1182Cys) rs376981214
NM_004260.3(RECQL4):c.3545G>A (p.Arg1182His)
NM_004260.3(RECQL4):c.354G>A (p.Gln118=) rs544163984
NM_004260.3(RECQL4):c.355-3C>G
NM_004260.3(RECQL4):c.355-7C>T rs376295056
NM_004260.3(RECQL4):c.3552G>A (p.Trp1184Ter)
NM_004260.3(RECQL4):c.3554G>C (p.Arg1185Thr) rs774756135
NM_004260.3(RECQL4):c.3557A>G (p.Lys1186Arg)
NM_004260.3(RECQL4):c.3560A>G (p.Tyr1187Cys)
NM_004260.3(RECQL4):c.3569T>C (p.Leu1190Pro) rs752487649
NM_004260.3(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del)
NM_004260.3(RECQL4):c.3578A>G (p.His1193Arg)
NM_004260.3(RECQL4):c.3580G>A (p.Ala1194Thr) rs201809411
NM_004260.3(RECQL4):c.3585G>A (p.Leu1195=)
NM_004260.3(RECQL4):c.3589G>A (p.Gly1197Ser) rs1333144821
NM_004260.3(RECQL4):c.358G>C (p.Gly120Arg) rs571635676
NM_004260.3(RECQL4):c.3590G>A (p.Gly1197Asp)
NM_004260.3(RECQL4):c.3599C>T (p.Thr1200Met)
NM_004260.3(RECQL4):c.359G>C (p.Gly120Ala)
NM_004260.3(RECQL4):c.3602A>G (p.Glu1201Gly) rs781313959
NM_004260.3(RECQL4):c.3606G>C (p.Glu1202Asp)
NM_004260.3(RECQL4):c.3609_3611del (p.Leu1204del) rs1554895414
NM_004260.3(RECQL4):c.3618G>A (p.Val1206=)
NM_004260.3(RECQL4):c.361C>G (p.Pro121Ala) rs756069461
NM_004260.3(RECQL4):c.3623G>A (p.Arg1208His)
NM_004260.3(RECQL4):c.371G>A (p.Gly124Asp)
NM_004260.3(RECQL4):c.37G>C (p.Ala13Pro) rs747356389
NM_004260.3(RECQL4):c.37G>T (p.Ala13Ser) rs747356389
NM_004260.3(RECQL4):c.380C>T (p.Pro127Leu) rs550470182
NM_004260.3(RECQL4):c.385C>T (p.Pro129Ser) rs201542692
NM_004260.3(RECQL4):c.386C>T (p.Pro129Leu)
NM_004260.3(RECQL4):c.38C>T (p.Ala13Val)
NM_004260.3(RECQL4):c.391G>C (p.Gly131Arg)
NM_004260.3(RECQL4):c.392G>A (p.Gly131Glu) rs542844885
NM_004260.3(RECQL4):c.40T>C (p.Trp14Arg)
NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) rs527934999
NM_004260.3(RECQL4):c.422A>C (p.Lys141Thr) rs1178719750
NM_004260.3(RECQL4):c.424C>T (p.Pro142Ser) rs781248589
NM_004260.3(RECQL4):c.425C>T (p.Pro142Leu) rs370312522
NM_004260.3(RECQL4):c.427C>G (p.Pro143Ala) rs1023001689
NM_004260.3(RECQL4):c.431G>A (p.Gly144Asp) rs758010588
NM_004260.3(RECQL4):c.437G>A (p.Gly146Glu)
NM_004260.3(RECQL4):c.440C>T (p.Pro147Leu)
NM_004260.3(RECQL4):c.445C>T (p.Pro149Ser) rs766844431
NM_004260.3(RECQL4):c.446C>G (p.Pro149Arg) rs773579080
NM_004260.3(RECQL4):c.446C>T (p.Pro149Leu) rs773579080
NM_004260.3(RECQL4):c.466A>T (p.Ser156Cys)
NM_004260.3(RECQL4):c.475C>T (p.Pro159Ser)
NM_004260.3(RECQL4):c.478C>A (p.Pro160Thr) rs758124770
NM_004260.3(RECQL4):c.478C>T (p.Pro160Ser) rs758124770
NM_004260.3(RECQL4):c.482A>G (p.Gln161Arg)
NM_004260.3(RECQL4):c.483G>C (p.Gln161His) rs985628516
NM_004260.3(RECQL4):c.490G>C (p.Glu164Gln) rs576735078
NM_004260.3(RECQL4):c.491A>T (p.Glu164Val) rs1554903532
NM_004260.3(RECQL4):c.493C>A (p.Pro165Thr)
NM_004260.3(RECQL4):c.493C>T (p.Pro165Ser)
NM_004260.3(RECQL4):c.509G>A (p.Gly170Asp)
NM_004260.3(RECQL4):c.511C>T (p.Arg171Trp) rs775651175
NM_004260.3(RECQL4):c.520C>G (p.His174Asp)
NM_004260.3(RECQL4):c.520C>T (p.His174Tyr) rs369382124
NM_004260.3(RECQL4):c.52T>C (p.Phe18Leu)
NM_004260.3(RECQL4):c.532T>C (p.Ser178Pro) rs1294313948
NM_004260.3(RECQL4):c.539G>A (p.Ser180Asn) rs1060501378
NM_004260.3(RECQL4):c.542A>G (p.Gln181Arg)
NM_004260.3(RECQL4):c.544C>T (p.Arg182Trp) rs750986351
NM_004260.3(RECQL4):c.545G>A (p.Arg182Gln) rs565903685
NM_004260.3(RECQL4):c.545G>C (p.Arg182Pro) rs565903685
NM_004260.3(RECQL4):c.551G>A (p.Gly184Asp) rs369118443
NM_004260.3(RECQL4):c.554C>T (p.Ser185Phe)
NM_004260.3(RECQL4):c.559G>A (p.Asp187Asn)
NM_004260.3(RECQL4):c.563C>T (p.Pro188Leu)
NM_004260.3(RECQL4):c.578G>A (p.Arg193Gln) rs747963862
NM_004260.3(RECQL4):c.58C>T (p.Arg20Trp) rs1564812906
NM_004260.3(RECQL4):c.596C>T (p.Pro199Leu) rs1564808023
NM_004260.3(RECQL4):c.599A>G (p.Asp200Gly) rs755687763
NM_004260.3(RECQL4):c.59G>C (p.Arg20Pro)
NM_004260.3(RECQL4):c.600_602inv (p.Asp200_Phe201delinsGluAsn)
NM_004260.3(RECQL4):c.608G>A (p.Gly203Glu) rs776532961
NM_004260.3(RECQL4):c.611C>G (p.Ala204Gly)
NM_004260.3(RECQL4):c.614C>T (p.Pro205Leu) rs751975669
NM_004260.3(RECQL4):c.626G>A (p.Arg209Lys) rs753018522
NM_004260.3(RECQL4):c.629C>G (p.Pro210Arg)
NM_004260.3(RECQL4):c.631G>C (p.Asp211His)
NM_004260.3(RECQL4):c.634C>G (p.Leu212Val)
NM_004260.3(RECQL4):c.643G>A (p.Glu215Lys)
NM_004260.3(RECQL4):c.646G>A (p.Glu216Lys)
NM_004260.3(RECQL4):c.664C>T (p.Pro222Ser) rs758876038
NM_004260.3(RECQL4):c.665C>T (p.Pro222Leu) rs1452356265
NM_004260.3(RECQL4):c.674C>T (p.Ser225Leu)
NM_004260.3(RECQL4):c.688C>A (p.Pro230Thr) rs745571670
NM_004260.3(RECQL4):c.688C>T (p.Pro230Ser) rs745571670
NM_004260.3(RECQL4):c.694G>A (p.Ala232Thr)
NM_004260.3(RECQL4):c.701C>G (p.Ser234Cys) rs746487281
NM_004260.3(RECQL4):c.709C>G (p.Pro237Ala)
NM_004260.3(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.3(RECQL4):c.725T>G (p.Phe242Cys)
NM_004260.3(RECQL4):c.732A>C (p.Glu244Asp) rs750451940
NM_004260.3(RECQL4):c.736A>C (p.Ser246Arg) rs1564807240
NM_004260.3(RECQL4):c.737G>C (p.Ser246Thr)
NM_004260.3(RECQL4):c.740T>C (p.Ile247Thr)
NM_004260.3(RECQL4):c.742C>T (p.Arg248Cys)
NM_004260.3(RECQL4):c.743G>A (p.Arg248His)
NM_004260.3(RECQL4):c.745G>T (p.Val249Leu)
NM_004260.3(RECQL4):c.769A>G (p.Ser257Gly) rs748671989
NM_004260.3(RECQL4):c.778G>A (p.Glu260Lys) rs370919817
NM_004260.3(RECQL4):c.784C>T (p.Arg262Trp)
NM_004260.3(RECQL4):c.785G>A (p.Arg262Gln) rs781569277
NM_004260.3(RECQL4):c.788G>A (p.Arg263Lys) rs1477769679
NM_004260.3(RECQL4):c.796G>A (p.Glu266Lys)
NM_004260.3(RECQL4):c.7C>G (p.Arg3Gly) rs886042531
NM_004260.3(RECQL4):c.802C>T (p.Pro268Ser) rs561010978
NM_004260.3(RECQL4):c.803C>T (p.Pro268Leu) rs760340046
NM_004260.3(RECQL4):c.806G>C (p.Trp269Ser)
NM_004260.3(RECQL4):c.810G>C (p.Glu270Asp) rs1333353971
NM_004260.3(RECQL4):c.817G>A (p.Ala273Thr) rs34103564
NM_004260.3(RECQL4):c.82C>A (p.Gln28Lys) rs794726912
NM_004260.3(RECQL4):c.832G>A (p.Glu278Lys) rs749625708
NM_004260.3(RECQL4):c.84+5G>C rs1060501367
NM_004260.3(RECQL4):c.845C>G (p.Ala282Gly) rs770138627
NM_004260.3(RECQL4):c.84G>A (p.Gln28=)
NM_004260.3(RECQL4):c.85-3C>G rs1053090518
NM_004260.3(RECQL4):c.851C>T (p.Pro284Leu)
NM_004260.3(RECQL4):c.857C>G (p.Ser286Trp)
NM_004260.3(RECQL4):c.859G>A (p.Glu287Lys) rs1383587887
NM_004260.3(RECQL4):c.862G>A (p.Gly288Arg) rs199706417
NM_004260.3(RECQL4):c.863_868GGGCTG[3] (p.288_289GA[3]) rs1554902664
NM_004260.3(RECQL4):c.865G>A (p.Ala289Thr)
NM_004260.3(RECQL4):c.866C>T (p.Ala289Val)
NM_004260.3(RECQL4):c.869G>A (p.Gly290Glu)
NM_004260.3(RECQL4):c.875T>C (p.Val292Ala)
NM_004260.3(RECQL4):c.883G>A (p.Glu295Lys)
NM_004260.3(RECQL4):c.889G>A (p.Asp297Asn)
NM_004260.3(RECQL4):c.88G>A (p.Asp30Asn)
NM_004260.3(RECQL4):c.891C>G (p.Asp297Glu) rs34700133
NM_004260.3(RECQL4):c.892C>T (p.Pro298Ser)
NM_004260.3(RECQL4):c.8G>T (p.Arg3Leu) rs979012066
NM_004260.3(RECQL4):c.903A>T (p.Glu301Asp) rs746200109
NM_004260.3(RECQL4):c.907G>A (p.Val303Ile) rs1489813654
NM_004260.3(RECQL4):c.907G>T (p.Val303Leu) rs1489813654
NM_004260.3(RECQL4):c.919C>T (p.Pro307Ser)
NM_004260.3(RECQL4):c.922C>A (p.Pro308Thr) rs756016498
NM_004260.3(RECQL4):c.923C>T (p.Pro308Leu) rs372417964
NM_004260.3(RECQL4):c.928C>T (p.Pro310Ser) rs1060501376
NM_004260.3(RECQL4):c.929C>T (p.Pro310Leu) rs368504960
NM_004260.3(RECQL4):c.92T>G (p.Val31Gly) rs904809747
NM_004260.3(RECQL4):c.938G>C (p.Ser313Thr) rs762426271
NM_004260.3(RECQL4):c.940C>T (p.Pro314Ser) rs538222166
NM_004260.3(RECQL4):c.944C>G (p.Ser315Trp)
NM_004260.3(RECQL4):c.944C>T (p.Ser315Leu) rs376493359
NM_004260.3(RECQL4):c.946A>C (p.Asn316His)
NM_004260.3(RECQL4):c.961G>A (p.Gly321Arg) rs748212145
NM_004260.3(RECQL4):c.962G>A (p.Gly321Glu) rs1220650736
NM_004260.3(RECQL4):c.968G>T (p.Ser323Ile)
NM_004260.3(RECQL4):c.970C>T (p.Pro324Ser)
NM_004260.3(RECQL4):c.971C>T (p.Pro324Leu)
NM_004260.3(RECQL4):c.974C>G (p.Ser325Cys)
NM_004260.3(RECQL4):c.998C>G (p.Ala333Gly)

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