ClinVar Miner

List of variants studied for Baller-Gerold syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1799
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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.(?_145736814)_(145739106_?)dup
NC_000008.10:g.(?_145736814)_(145743168_?)dup
NC_000008.10:g.(?_145738591)_(145742902_?)dup
NC_000008.10:g.(?_145742976)_(145743178_?)dup
NC_000008.11:g.(?_144514926)_(144517794_?)del
NM_004260.3(RECQL4):c.1009G>C (p.Ala337Pro) rs1171953080
NM_004260.3(RECQL4):c.1011C>A (p.Ala337=) rs759971028
NM_004260.3(RECQL4):c.1012C>T (p.Pro338Ser) rs754299237
NM_004260.3(RECQL4):c.1013C>T (p.Pro338Leu) rs1554902388
NM_004260.3(RECQL4):c.1014C>T (p.Pro338=) rs373657692
NM_004260.3(RECQL4):c.1015del (p.Leu339fs) rs1060501384
NM_004260.3(RECQL4):c.1016T>C (p.Leu339Pro) rs1554902362
NM_004260.3(RECQL4):c.1021A>G (p.Ile341Val) rs1022453211
NM_004260.3(RECQL4):c.1023C>T (p.Ile341=) rs371421344
NM_004260.3(RECQL4):c.1027C>T (p.Pro343Ser) rs1379758021
NM_004260.3(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
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) rs534507419
NM_004260.3(RECQL4):c.1040G>A (p.Arg347His) rs757988816
NM_004260.3(RECQL4):c.1040G>T (p.Arg347Leu) rs757988816
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.1044T>C (p.His348=) rs754473947
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.1048_1049del (p.Arg350fs) rs746636748
NM_004260.3(RECQL4):c.1051_1052del (p.Gly351fs) rs1586821509
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) rs551940973
NM_004260.3(RECQL4):c.1062A>G (p.Val354=) rs774698155
NM_004260.3(RECQL4):c.1063C>A (p.Arg355=) rs368601097
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) rs374743591
NM_004260.3(RECQL4):c.1065G>T (p.Arg355=) rs1586821344
NM_004260.3(RECQL4):c.106_108GAG[1] (p.Glu37del) rs1239043035
NM_004260.3(RECQL4):c.1072A>G (p.Met358Val) rs371503929
NM_004260.3(RECQL4):c.1073T>C (p.Met358Thr) rs376652305
NM_004260.3(RECQL4):c.1077G>C (p.Lys359Asn) rs533185057
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.1089C>T (p.Tyr363=) rs377589237
NM_004260.3(RECQL4):c.1090G>A (p.Val364Met) rs144637135
NM_004260.3(RECQL4):c.1090G>T (p.Val364Leu) rs144637135
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) rs531175632
NM_004260.3(RECQL4):c.10C>T (p.Leu4=) rs878854640
NM_004260.3(RECQL4):c.1100G>A (p.Arg367Gln) rs766344677
NM_004260.3(RECQL4):c.1106T>G (p.Leu369Arg) rs1586821015
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) rs1042662106
NM_004260.3(RECQL4):c.1115G>C (p.Arg372Thr) rs200097701
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) rs764389677
NM_004260.3(RECQL4):c.1129C>G (p.Gln377Glu) rs372521987
NM_004260.3(RECQL4):c.1130A>T (p.Gln377Leu) rs944826681
NM_004260.3(RECQL4):c.1131+1G>A rs1050860620
NM_004260.3(RECQL4):c.1131+3A>G rs1218791786
NM_004260.3(RECQL4):c.1131+5G>A rs758482986
NM_004260.3(RECQL4):c.1131+9G>A rs373765596
NM_004260.3(RECQL4):c.1131G>A (p.Gln377=) rs911864123
NM_004260.3(RECQL4):c.1131_1131+3del rs1060501353
NM_004260.3(RECQL4):c.1132-8C>A rs370660188
NM_004260.3(RECQL4):c.113C>G (p.Thr38Ser) rs1348040384
NM_004260.3(RECQL4):c.1144A>G (p.Lys382Glu) rs758161368
NM_004260.3(RECQL4):c.114C>G (p.Thr38=) rs948891282
NM_004260.3(RECQL4):c.114C>T (p.Thr38=) rs948891282
NM_004260.3(RECQL4):c.1150C>A (p.Arg384=) rs766026341
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) rs551814194
NM_004260.3(RECQL4):c.1169T>G (p.Phe390Cys) rs1586819715
NM_004260.3(RECQL4):c.1170T>C (p.Phe390=) rs768991485
NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs) rs1564804342
NM_004260.3(RECQL4):c.1175G>A (p.Gly392Asp) rs745923592
NM_004260.3(RECQL4):c.1176T>G (p.Gly392=) rs1054027953
NM_004260.3(RECQL4):c.118+2T>C rs1586834813
NM_004260.3(RECQL4):c.118+9G>A rs1472638346
NM_004260.3(RECQL4):c.1187C>T (p.Thr396Ile) rs752564961
NM_004260.3(RECQL4):c.119-5C>A rs759011490
NM_004260.3(RECQL4):c.1203del (p.Glu401fs) rs1220902289
NM_004260.3(RECQL4):c.1207T>C (p.Cys403Arg) rs754788578
NM_004260.3(RECQL4):c.1208G>A (p.Cys403Tyr) rs753593981
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) rs1564804098
NM_004260.3(RECQL4):c.1223_1224insT (p.Gln408fs) rs1586819343
NM_004260.3(RECQL4):c.1227C>T (p.Phe409=) rs1060504219
NM_004260.3(RECQL4):c.1228G>A (p.Asp410Asn) rs558779399
NM_004260.3(RECQL4):c.1228G>C (p.Asp410His) rs558779399
NM_004260.3(RECQL4):c.1229A>G (p.Asp410Gly) rs1554901692
NM_004260.3(RECQL4):c.1234T>C (p.Trp412Arg) rs377546182
NM_004260.3(RECQL4):c.1236G>A (p.Trp412Ter) rs1554901674
NM_004260.3(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.3(RECQL4):c.1240G>T (p.Ala414Ser) rs1188265182
NM_004260.3(RECQL4):c.1251C>T (p.Pro417=) rs1060504213
NM_004260.3(RECQL4):c.1252C>T (p.Arg418Trp) rs369670064
NM_004260.3(RECQL4):c.1253G>C (p.Arg418Pro) rs548957135
NM_004260.3(RECQL4):c.1258+10C>T rs1554901592
NM_004260.3(RECQL4):c.1258+6A>T rs34437789
NM_004260.3(RECQL4):c.1258+8A>G rs1554901599
NM_004260.3(RECQL4):c.1259-1G>A rs372380880
NM_004260.3(RECQL4):c.1272C>G (p.Asp424Glu) rs1586817672
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.1284T>C (p.Val428=) rs766635144
NM_004260.3(RECQL4):c.1286G>A (p.Gly429Glu) rs761033231
NM_004260.3(RECQL4):c.1288C>T (p.Pro430Ser) rs773561522
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) rs1586817338
NM_004260.3(RECQL4):c.1345A>C (p.Thr449Pro) rs535692036
NM_004260.3(RECQL4):c.1347C>T (p.Thr449=) rs200763671
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.1359C>G (p.Leu453=) rs1331671057
NM_004260.3(RECQL4):c.1364C>T (p.Ser455Phe) rs1586817192
NM_004260.3(RECQL4):c.136C>A (p.Arg46Ser) rs1268307700
NM_004260.3(RECQL4):c.136C>T (p.Arg46Cys) rs1268307700
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.1390+1G>T rs1085307090
NM_004260.3(RECQL4):c.1390+2del rs386833843
NM_004260.3(RECQL4):c.1390+3G>A rs148912524
NM_004260.3(RECQL4):c.1390+8G>A rs746758227
NM_004260.3(RECQL4):c.1391-1G>A rs117642173
NM_004260.3(RECQL4):c.1391-4G>T rs190388213
NM_004260.3(RECQL4):c.1391-7T>C rs566362207
NM_004260.3(RECQL4):c.1393A>G (p.Thr465Ala) rs1586816517
NM_004260.3(RECQL4):c.1394C>T (p.Thr465Met) rs899474226
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
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.1397C>T (p.Pro466Leu) rs386833844
NM_004260.3(RECQL4):c.1398G>A (p.Pro466=) rs145615931
NM_004260.3(RECQL4):c.1399G>A (p.Ala467Thr) rs770371344
NM_004260.3(RECQL4):c.1400del (p.Ala467fs) rs1564802464
NM_004260.3(RECQL4):c.1404G>A (p.Glu468=) rs371046973
NM_004260.3(RECQL4):c.1406T>C (p.Val469Ala) rs529104564
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.1431G>T (p.Gly477=) rs760661879
NM_004260.3(RECQL4):c.1432C>T (p.His478Tyr) rs750354218
NM_004260.3(RECQL4):c.1439C>T (p.Ala480Val) rs767337200
NM_004260.3(RECQL4):c.143_144del (p.Leu48fs) rs1554904773
NM_004260.3(RECQL4):c.1440C>T (p.Ala480=) rs1060504216
NM_004260.3(RECQL4):c.1442T>G (p.Phe481Cys) rs1586816237
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.1446C>T (p.Arg482=) rs1279339947
NM_004260.3(RECQL4):c.1456G>C (p.Glu486Gln) rs768311526
NM_004260.3(RECQL4):c.1458G>A (p.Glu486=) rs1060504211
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) rs925075047
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 rs376137809
NM_004260.3(RECQL4):c.1483+7G>A rs373192242
NM_004260.3(RECQL4):c.1484-10C>T rs1307887954
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) rs1358382637
NM_004260.3(RECQL4):c.148C>T (p.Arg50Cys) rs1325079305
NM_004260.3(RECQL4):c.1491C>T (p.Ser497=) rs369306389
NM_004260.3(RECQL4):c.1493C>T (p.Thr498Met) rs376587038
NM_004260.3(RECQL4):c.1494G>A (p.Thr498=) rs557281237
NM_004260.3(RECQL4):c.1498C>T (p.Leu500=) rs892424433
NM_004260.3(RECQL4):c.14_34del (p.Arg5_Leu11del) rs1445577376
NM_004260.3(RECQL4):c.14_34dup (p.Arg5_Leu11dup) rs1445577376
NM_004260.3(RECQL4):c.1513G>A (p.Gly505Ser) rs1586815330
NM_004260.3(RECQL4):c.1514G>A (p.Gly505Asp) rs1004394987
NM_004260.3(RECQL4):c.1518C>G (p.Ala506=) rs757280460
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.1530G>C (p.Leu510=) rs372597841
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.1545A>G (p.Pro515=) rs773560213
NM_004260.3(RECQL4):c.1547C>T (p.Ala516Val) rs762113412
NM_004260.3(RECQL4):c.1548G>A (p.Ala516=) rs377022089
NM_004260.3(RECQL4):c.1554C>T (p.Leu518=) rs780249574
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.1564C>T (p.Arg522Cys) rs35407712
NM_004260.3(RECQL4):c.1565G>A (p.Arg522His) rs35842750
NM_004260.3(RECQL4):c.1568G>A (p.Ser523Asn) rs754735053
NM_004260.3(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) rs1060501383
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.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690
NM_004260.3(RECQL4):c.157G>A (p.Gly53Ser) rs1171989536
NM_004260.3(RECQL4):c.1580C>G (p.Thr527Arg) rs766354337
NM_004260.3(RECQL4):c.1581G>A (p.Thr527=) rs367559988
NM_004260.3(RECQL4):c.1585_1587GTC[3] (p.Val530dup) rs778439963
NM_004260.3(RECQL4):c.1588G>A (p.Val530Ile) rs1554900626
NM_004260.3(RECQL4):c.1592C>A (p.Ser531Tyr) rs774637277
NM_004260.3(RECQL4):c.1593T>C (p.Ser531=) rs1273482820
NM_004260.3(RECQL4):c.1597C>T (p.Leu533=) rs769939735
NM_004260.3(RECQL4):c.1609A>G (p.Met537Val) rs748083596
NM_004260.3(RECQL4):c.1614T>C (p.Asp538=) rs563786469
NM_004260.3(RECQL4):c.1619A>C (p.Gln540Pro) rs754788555
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1620+5G>A rs1375331593
NM_004260.3(RECQL4):c.1620+5_1620+6dup rs1554900517
NM_004260.3(RECQL4):c.1621-4G>C rs765558442
NM_004260.3(RECQL4):c.1621-8A>G rs373357384
NM_004260.3(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601
NM_004260.3(RECQL4):c.1633C>T (p.Pro545Ser) rs1398698946
NM_004260.3(RECQL4):c.1637C>G (p.Pro546Arg) rs377298374
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>A (p.Lys549=) rs371972881
NM_004260.3(RECQL4):c.1647G>C (p.Lys549Asn) rs371972881
NM_004260.3(RECQL4):c.1649C>G (p.Ala550Gly) rs764297840
NM_004260.3(RECQL4):c.1649C>T (p.Ala550Val) rs764297840
NM_004260.3(RECQL4):c.1650G>A (p.Ala550=) rs770513069
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) rs777837612
NM_004260.3(RECQL4):c.1671G>A (p.Met557Ile) rs1564800052
NM_004260.3(RECQL4):c.1676G>A (p.Arg559Lys) rs1324762406
NM_004260.3(RECQL4):c.1677G>C (p.Arg559Ser) rs750667308
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.1696C>T (p.Leu566=) rs371981215
NM_004260.3(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505
NM_004260.3(RECQL4):c.1699C>T (p.Gln567Ter) rs770709355
NM_004260.3(RECQL4):c.169G>A (p.Gly57Ser) rs1060501373
NM_004260.3(RECQL4):c.16G>A (p.Asp6Asn) rs1009265867
NM_004260.3(RECQL4):c.1704+1G>A rs760363252
NM_004260.3(RECQL4):c.1704+3G>A rs1210896009
NM_004260.3(RECQL4):c.1704+6G>T rs747653079
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.1704G>A (p.Lys568=) rs878854642
NM_004260.3(RECQL4):c.1705-6C>T rs1554899989
NM_004260.3(RECQL4):c.1705-7C>A rs1377388737
NM_004260.3(RECQL4):c.1708C>T (p.Arg570Trp) rs373178405
NM_004260.3(RECQL4):c.1709G>A (p.Arg570Gln) rs755865911
NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748
NM_004260.3(RECQL4):c.171C>T (p.Gly57=) rs758179747
NM_004260.3(RECQL4):c.1720G>A (p.Val574Ile) rs368983561
NM_004260.3(RECQL4):c.1725C>T (p.His575=) rs773841916
NM_004260.3(RECQL4):c.1726G>A (p.Val576Met) rs570331496
NM_004260.3(RECQL4):c.1726G>T (p.Val576Leu) rs570331496
NM_004260.3(RECQL4):c.1734G>A (p.Met578Ile) rs1416552093
NM_004260.3(RECQL4):c.1735C>G (p.Leu579Val) rs552226907
NM_004260.3(RECQL4):c.1741C>A (p.Pro581Thr) rs776147492
NM_004260.3(RECQL4):c.1753G>T (p.Val585Leu) rs770367395
NM_004260.3(RECQL4):c.1755G>C (p.Val585=) rs539370260
NM_004260.3(RECQL4):c.1755G>T (p.Val585=) rs539370260
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) rs1586810759
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.1770_1807del (p.Pro591fs) rs780542343
NM_004260.3(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191
NM_004260.3(RECQL4):c.1774C>T (p.Pro592Ser) rs1235051312
NM_004260.3(RECQL4):c.1776A>G (p.Pro592=) rs1025483401
NM_004260.3(RECQL4):c.1778C>G (p.Ala593Gly) rs1286553686
NM_004260.3(RECQL4):c.1779C>T (p.Ala593=) rs369939552
NM_004260.3(RECQL4):c.1780G>A (p.Ala594Thr) rs376364416
NM_004260.3(RECQL4):c.1783C>G (p.Gln595Glu) rs1018200211
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) rs1586810446
NM_004260.3(RECQL4):c.1793C>G (p.Pro598Arg) rs1010524385
NM_004260.3(RECQL4):c.179G>A (p.Arg60His) rs1060501374
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.1816G>T (p.Glu606Ter) rs878854644
NM_004260.3(RECQL4):c.1820C>G (p.Ala607Gly) rs1479605538
NM_004260.3(RECQL4):c.1822C>T (p.His608Tyr) rs375033380
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) rs766282231
NM_004260.3(RECQL4):c.1833C>T (p.Ser611=) rs777698581
NM_004260.3(RECQL4):c.1834C>T (p.Gln612Ter) rs1554899728
NM_004260.3(RECQL4):c.1837T>C (p.Trp613Arg) rs1394819507
NM_004260.3(RECQL4):c.1838G>A (p.Trp613Ter) rs1554899720
NM_004260.3(RECQL4):c.1843C>A (p.His615Asn) rs1355971313
NM_004260.3(RECQL4):c.1844A>C (p.His615Pro) rs1586810045
NM_004260.3(RECQL4):c.1847A>G (p.Asn616Ser) rs199654783
NM_004260.3(RECQL4):c.1848C>T (p.Asn616=) rs758924887
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) rs776616498
NM_004260.3(RECQL4):c.1858T>G (p.Cys620Gly) rs762061985
NM_004260.3(RECQL4):c.1863C>T (p.Tyr621=) rs1208882721
NM_004260.3(RECQL4):c.1864C>T (p.Leu622=) rs373717016
NM_004260.3(RECQL4):c.1867C>T (p.Arg623Cys) rs772515188
NM_004260.3(RECQL4):c.1868G>A (p.Arg623His) rs201734382
NM_004260.3(RECQL4):c.1869C>T (p.Arg623=) rs368736533
NM_004260.3(RECQL4):c.1870G>A (p.Val624Ile) rs375100228
NM_004260.3(RECQL4):c.1871T>C (p.Val624Ala) rs370912793
NM_004260.3(RECQL4):c.1872C>T (p.Val624=) rs201815449
NM_004260.3(RECQL4):c.1875C>T (p.Cys625=) rs1301085885
NM_004260.3(RECQL4):c.1879-9C>G rs377339114
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) rs748941688
NM_004260.3(RECQL4):c.1892G>A (p.Arg631His) rs771179943
NM_004260.3(RECQL4):c.1892G>C (p.Arg631Pro) rs771179943
NM_004260.3(RECQL4):c.1894A>G (p.Met632Val) rs745309255
NM_004260.3(RECQL4):c.1899C>T (p.Gly633=) rs557065974
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.1902G>T (p.Val634=) rs1395441455
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.1911C>T (p.Phe637=) rs765491293
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.1929A>G (p.Thr643=) rs761693070
NM_004260.3(RECQL4):c.192G>C (p.Ser64=) rs559507124
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) rs775127620
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) rs1395849719
NM_004260.3(RECQL4):c.1946C>G (p.Ala649Gly) rs1451532258
NM_004260.3(RECQL4):c.194_200del (p.Leu65fs) rs1554904685
NM_004260.3(RECQL4):c.1953C>T (p.Asp651=) rs778308001
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.1958C>G (p.Ala653Gly) rs1478522762
NM_004260.3(RECQL4):c.1959A>G (p.Ala653=) rs574411332
NM_004260.3(RECQL4):c.195C>G (p.Leu65=) rs369163654
NM_004260.3(RECQL4):c.1960C>T (p.Gln654Ter) rs552960344
NM_004260.3(RECQL4):c.1961A>G (p.Gln654Arg) rs534627012
NM_004260.3(RECQL4):c.1965C>T (p.His655=) rs1060504209
NM_004260.3(RECQL4):c.1966C>T (p.Leu656=) rs55667349
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.1995C>T (p.His665=) rs759235313
NM_004260.3(RECQL4):c.1996G>A (p.Gly666Arg) rs776218553
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) rs1256215770
NM_004260.3(RECQL4):c.202G>A (p.Ala68Thr) rs1222240717
NM_004260.3(RECQL4):c.2031C>T (p.Ser677=) rs749542193
NM_004260.3(RECQL4):c.2032G>A (p.Val678Met) rs780282337
NM_004260.3(RECQL4):c.2038A>G (p.Met680Val) rs1040931249
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) rs1586807847
NM_004260.3(RECQL4):c.2044A>G (p.Arg682Gly) rs1455596790
NM_004260.3(RECQL4):c.2058+3G>A rs1554899156
NM_004260.3(RECQL4):c.2058+4G>T rs369280644
NM_004260.3(RECQL4):c.2058+5G>A rs1041802349
NM_004260.3(RECQL4):c.2058+9G>A rs766002126
NM_004260.3(RECQL4):c.2059-10_2069dup rs1554898831
NM_004260.3(RECQL4):c.2059-1G>A rs386833849
NM_004260.3(RECQL4):c.2059-5A>C rs370542063
NM_004260.3(RECQL4):c.2059-5A>G rs370542063
NM_004260.3(RECQL4):c.2059-6C>T rs375702394
NM_004260.3(RECQL4):c.2059-8C>T rs777819705
NM_004260.3(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.3(RECQL4):c.2060C>G (p.Ala687Gly) rs1204590426
NM_004260.3(RECQL4):c.2063T>C (p.Leu688Pro) rs1315661208
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.2070G>A (p.Thr690=) rs779945948
NM_004260.3(RECQL4):c.2071C>G (p.Leu691Val) rs1330868114
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.2085del (p.Lys695fs) rs1457411812
NM_004260.3(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
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) rs1026729951
NM_004260.3(RECQL4):c.2091T>C (p.Phe697=) rs386833850
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.3(RECQL4):c.2098C>T (p.Leu700Phe) rs1586805351
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.2100C>T (p.Leu700=) rs775812008
NM_004260.3(RECQL4):c.2107A>G (p.Ile703Val) rs770227800
NM_004260.3(RECQL4):c.2112C>T (p.Ile704=) rs368140492
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) rs199562131
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) rs781121286
NM_004260.3(RECQL4):c.212A>C (p.Glu71Ala) rs34642881
NM_004260.3(RECQL4):c.212A>G (p.Glu71Gly) 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.213+7dup rs760933755
NM_004260.3(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842
NM_004260.3(RECQL4):c.2134G>A (p.Asp712Asn) rs753254336
NM_004260.3(RECQL4):c.2136C>G (p.Asp712Glu) rs377493345
NM_004260.3(RECQL4):c.213G>C (p.Glu71Asp) rs1564811591
NM_004260.3(RECQL4):c.214-3C>A rs367849648
NM_004260.3(RECQL4):c.214-7C>T rs1047492140
NM_004260.3(RECQL4):c.2141A>G (p.Glu714Gly) rs766703250
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.2148C>T (p.Ile716=) 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.2154G>C (p.Ala718=) rs745813211
NM_004260.3(RECQL4):c.215C>T (p.Ala72Val) rs763453097
NM_004260.3(RECQL4):c.2161C>T (p.Arg721Ter) rs746691436
NM_004260.3(RECQL4):c.2162G>A (p.Arg721Gln) rs558451720
NM_004260.3(RECQL4):c.2174A>T (p.His725Leu) rs755481980
NM_004260.3(RECQL4):c.2175C>T (p.His725=) rs569844897
NM_004260.3(RECQL4):c.2176G>A (p.Ala726Thr) rs766748490
NM_004260.3(RECQL4):c.2179G>T (p.Ala727Ser) rs773424301
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=) rs373197205
NM_004260.3(RECQL4):c.2197G>A (p.Gly733Arg) rs1364066465
NM_004260.3(RECQL4):c.2198G>C (p.Gly733Ala) rs1060501359
NM_004260.3(RECQL4):c.219_220AG[1] (p.Glu74fs) rs773325186
NM_004260.3(RECQL4):c.2200+2T>C rs768749064
NM_004260.3(RECQL4):c.2200+4C>A rs776670526
NM_004260.3(RECQL4):c.2200+4C>T rs776670526
NM_004260.3(RECQL4):c.2200+5G>A rs770855894
NM_004260.3(RECQL4):c.2201-4A>G rs1554898543
NM_004260.3(RECQL4):c.2201-5C>G rs764321990
NM_004260.3(RECQL4):c.2201-8C>T rs200942592
NM_004260.3(RECQL4):c.2203C>T (p.Arg735Cys) rs760748569
NM_004260.3(RECQL4):c.2204G>C (p.Arg735Pro) rs773155492
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) rs748933048
NM_004260.3(RECQL4):c.2223C>T (p.Ala741=) rs34271972
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.2235C>T (p.His745=) rs372501393
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.2238G>A (p.Ala746=) rs35215952
NM_004260.3(RECQL4):c.2244G>A (p.Met748Ile) rs767427869
NM_004260.3(RECQL4):c.2246G>A (p.Cys749Tyr) rs1586803374
NM_004260.3(RECQL4):c.224C>T (p.Pro75Leu) rs943035311
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) rs747445357
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229
NM_004260.3(RECQL4):c.2272C>T (p.Arg758Ter) rs758790200
NM_004260.3(RECQL4):c.2273G>A (p.Arg758Gln) rs748416710
NM_004260.3(RECQL4):c.2275G>A (p.Ala759Thr) rs1198791067
NM_004260.3(RECQL4):c.2276C>T (p.Ala759Val) rs1586803103
NM_004260.3(RECQL4):c.227G>A (p.Arg76His) rs771110626
NM_004260.3(RECQL4):c.2280C>T (p.Phe760=) rs1060504217
NM_004260.3(RECQL4):c.2282T>C (p.Met761Thr) rs1586803043
NM_004260.3(RECQL4):c.2285A>G (p.Gln762Arg) rs543333975
NM_004260.3(RECQL4):c.2296C>T (p.Arg766Trp) rs1586802958
NM_004260.3(RECQL4):c.2297G>A (p.Arg766Gln) rs931761657
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) rs370863264
NM_004260.3(RECQL4):c.2307G>A (p.Val769=) rs1554898349
NM_004260.3(RECQL4):c.2307_2309dup (p.Ala770dup) rs748979321
NM_004260.3(RECQL4):c.230G>A (p.Cys77Tyr) rs373705170
NM_004260.3(RECQL4):c.230G>T (p.Cys77Phe) rs373705170
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) rs1385567680
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) rs780228802
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) rs369488194
NM_004260.3(RECQL4):c.2344G>A (p.Asp782Asn) rs758319706
NM_004260.3(RECQL4):c.2346T>C (p.Asp782=) rs752556078
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) rs536096413
NM_004260.3(RECQL4):c.2353G>A (p.Ala785Thr) rs1060501362
NM_004260.3(RECQL4):c.2355T>C (p.Ala785=) rs1554898259
NM_004260.3(RECQL4):c.2362C>A (p.His788Asn) rs773864273
NM_004260.3(RECQL4):c.2362C>T (p.His788Tyr) rs773864273
NM_004260.3(RECQL4):c.2364T>G (p.His788Gln) rs1410031368
NM_004260.3(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923
NM_004260.3(RECQL4):c.2379_2380dup (p.Ser794fs) rs878854645
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.2395G>A (p.Val799Met) rs34293591
NM_004260.3(RECQL4):c.2404G>A (p.Val802Met) rs897118164
NM_004260.3(RECQL4):c.2406G>A (p.Val802=) rs754692026
NM_004260.3(RECQL4):c.240C>T (p.Pro80=) rs878854646
NM_004260.3(RECQL4):c.2410C>T (p.Arg804Trp) rs753536598
NM_004260.3(RECQL4):c.2410_2414CGGGC[3] (p.Arg807fs) rs1564794448
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.2415C>T (p.Ala805=) rs34735741
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.2424C>T (p.Asp808=) rs377301609
NM_004260.3(RECQL4):c.2425G>A (p.Gly809Arg) rs769977498
NM_004260.3(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990
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.2460C>T (p.Pro820=) rs202078917
NM_004260.3(RECQL4):c.2463+3T>C rs538535710
NM_004260.3(RECQL4):c.2463+5G>A rs1264630646
NM_004260.3(RECQL4):c.2463+6C>T rs35029361
NM_004260.3(RECQL4):c.2463+7A>C rs767159855
NM_004260.3(RECQL4):c.2463+7_2463+8del rs750392035
NM_004260.3(RECQL4):c.2463+7del rs760575376
NM_004260.3(RECQL4):c.2463+9C>T rs756789862
NM_004260.3(RECQL4):c.2463G>A (p.Gln821=) rs1447984125
NM_004260.3(RECQL4):c.2464-1G>A rs398124117
NM_004260.3(RECQL4):c.2464-1G>C rs398124117
NM_004260.3(RECQL4):c.2464-4G>A rs371431265
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) rs901313954
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.2476C>T (p.Arg826Ter) rs386833851
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) rs747748330
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.2492_2493del (p.His831fs) rs752729755
NM_004260.3(RECQL4):c.2493T>C (p.His831=) rs780421783
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) rs149067160
NM_004260.3(RECQL4):c.2511G>A (p.Thr837=) rs772866964
NM_004260.3(RECQL4):c.2513A>C (p.Asp838Ala) rs1317677692
NM_004260.3(RECQL4):c.2514C>T (p.Asp838=) rs771820219
NM_004260.3(RECQL4):c.2518C>T (p.Leu840=) rs201106179
NM_004260.3(RECQL4):c.251G>A (p.Arg84Gln) rs745596664
NM_004260.3(RECQL4):c.251G>C (p.Arg84Pro) rs745596664
NM_004260.3(RECQL4):c.2520G>T (p.Leu840=) rs1554897859
NM_004260.3(RECQL4):c.2522C>T (p.Ala841Val) rs768110067
NM_004260.3(RECQL4):c.2524G>A (p.Val842Met) rs1292755928
NM_004260.3(RECQL4):c.2529G>A (p.Lys843=) rs1554897835
NM_004260.3(RECQL4):c.2529G>T (p.Lys843Asn) rs1554897835
NM_004260.3(RECQL4):c.252G>C (p.Arg84=) rs1483294893
NM_004260.3(RECQL4):c.2531G>A (p.Arg844Lys) rs780474951
NM_004260.3(RECQL4):c.2538A>G (p.Val846=) rs746303718
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.2544C>T (p.Arg848=) rs200114521
NM_004260.3(RECQL4):c.2545G>A (p.Val849Met) rs201661055
NM_004260.3(RECQL4):c.2552C>T (p.Pro851Leu) rs760522191
NM_004260.3(RECQL4):c.2557_2562TGCACC[2] (p.853_854CT[2]) rs548804317
NM_004260.3(RECQL4):c.2557_2562TGCACC[4] (p.853_854CT[4]) rs548804317
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=) rs768163180
NM_004260.3(RECQL4):c.2568C>A (p.Thr856=) rs1401559978
NM_004260.3(RECQL4):c.2571C>T (p.Cys857=) rs368088860
NM_004260.3(RECQL4):c.2572A>G (p.Thr858Ala) rs1586799711
NM_004260.3(RECQL4):c.2579C>T (p.Pro860Leu) rs774850992
NM_004260.3(RECQL4):c.2580G>A (p.Pro860=) rs370134665
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.2590C>T (p.Gln864Ter) 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.2601C>G (p.Ala867=) rs34358597
NM_004260.3(RECQL4):c.2602G>A (p.Val868Met) rs369250614
NM_004260.3(RECQL4):c.2605G>A (p.Gly869Ser) rs750282072
NM_004260.3(RECQL4):c.2617C>G (p.Pro873Ala) rs751230101
NM_004260.3(RECQL4):c.2617C>T (p.Pro873Ser) rs751230101
NM_004260.3(RECQL4):c.261C>A (p.Thr87=) rs924413586
NM_004260.3(RECQL4):c.2620G>A (p.Val874Met) rs1554897651
NM_004260.3(RECQL4):c.2620G>C (p.Val874Leu) rs1554897651
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.2631C>T (p.Tyr877=) rs762591075
NM_004260.3(RECQL4):c.2632C>T (p.Pro878Ser) rs375036010
NM_004260.3(RECQL4):c.2634C>A (p.Pro878=) rs769166199
NM_004260.3(RECQL4):c.2634C>G (p.Pro878=) rs769166199
NM_004260.3(RECQL4):c.2636C>A (p.Pro879His) rs137975310
NM_004260.3(RECQL4):c.2636C>T (p.Pro879Leu) rs137975310
NM_004260.3(RECQL4):c.2637T>A (p.Pro879=) rs909977633
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.2662C>T (p.Gln888Ter) rs1406641581
NM_004260.3(RECQL4):c.2663A>G (p.Gln888Arg) rs1564792721
NM_004260.3(RECQL4):c.2664A>G (p.Gln888=) rs779076624
NM_004260.3(RECQL4):c.2665G>A (p.Ala889Thr) rs754977025
NM_004260.3(RECQL4):c.2670C>T (p.Ala890=) rs780935988
NM_004260.3(RECQL4):c.2671C>A (p.Pro891Thr) rs757175211
NM_004260.3(RECQL4):c.2671C>G (p.Pro891Ala) rs757175211
NM_004260.3(RECQL4):c.2684G>A (p.Arg895Lys) rs763846344
NM_004260.3(RECQL4):c.2686G>C (p.Val896Leu) rs762644049
NM_004260.3(RECQL4):c.2687T>C (p.Val896Ala) rs373763805
NM_004260.3(RECQL4):c.2692A>G (p.Met898Val) rs776189878
NM_004260.3(RECQL4):c.2700T>C (p.His900=) rs1554897521
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) rs778939539
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.2715A>G (p.Pro905=) rs1463979799
NM_004260.3(RECQL4):c.2724T>C (p.Leu908=) rs368908286
NM_004260.3(RECQL4):c.2725A>G (p.Thr909Ala) rs1564792382
NM_004260.3(RECQL4):c.2726C>T (p.Thr909Ile) rs1586798501
NM_004260.3(RECQL4):c.2727C>T (p.Thr909=) rs757228367
NM_004260.3(RECQL4):c.2728G>A (p.Val910Ile) rs374225917
NM_004260.3(RECQL4):c.2730A>T (p.Val910=) rs547042284
NM_004260.3(RECQL4):c.2732A>G (p.Gln911Arg) rs770437224
NM_004260.3(RECQL4):c.2735C>G (p.Ala912Gly) rs752408076
NM_004260.3(RECQL4):c.2736T>G (p.Ala912=) rs1013860595
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.274C>T (p.Pro92Ser) rs2721190
NM_004260.3(RECQL4):c.2750_2752AGG[1] (p.Glu918del) rs755113079
NM_004260.3(RECQL4):c.2752G>A (p.Glu918Lys) rs762028333
NM_004260.3(RECQL4):c.2754G>A (p.Glu918=) rs1060501377
NM_004260.3(RECQL4):c.2755+10C>T rs775596331
NM_004260.3(RECQL4):c.2755+1G>A rs373130543
NM_004260.3(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072
NM_004260.3(RECQL4):c.2756-1G>A rs1564791894
NM_004260.3(RECQL4):c.2756-5C>T rs541518527
NM_004260.3(RECQL4):c.2756-6C>G rs369289550
NM_004260.3(RECQL4):c.2756-6C>T rs369289550
NM_004260.3(RECQL4):c.2756-8G>T rs372723857
NM_004260.3(RECQL4):c.2757C>T (p.Ala919=) rs374692233
NM_004260.3(RECQL4):c.2758A>G (p.Ile920Val) rs780723602
NM_004260.3(RECQL4):c.275C>T (p.Pro92Leu) rs200516441
NM_004260.3(RECQL4):c.2760C>A (p.Ile920=) rs752058642
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.2769G>A (p.Leu923=) rs368618566
NM_004260.3(RECQL4):c.2774G>A (p.Cys925Tyr) rs1358613276
NM_004260.3(RECQL4):c.2775C>T (p.Cys925=) rs376838923
NM_004260.3(RECQL4):c.2776T>C (p.Tyr926His) rs1060501365
NM_004260.3(RECQL4):c.2779C>G (p.Leu927Val) rs372304382
NM_004260.3(RECQL4):c.2780T>C (p.Leu927Pro) rs774274636
NM_004260.3(RECQL4):c.2789A>G (p.His930Arg) rs1586797279
NM_004260.3(RECQL4):c.278C>T (p.Thr93Met) rs754149435
NM_004260.3(RECQL4):c.2791C>G (p.Pro931Ala) rs768352855
NM_004260.3(RECQL4):c.2791C>T (p.Pro931Ser) rs768352855
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.2799C>T (p.His933=) rs769613313
NM_004260.3(RECQL4):c.27G>A (p.Glu9=) rs1554905164
NM_004260.3(RECQL4):c.2805G>A (p.Leu935=) rs371434213
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.2817G>A (p.Ala939=) rs202045203
NM_004260.3(RECQL4):c.281C>T (p.Pro94Leu) rs1586830544
NM_004260.3(RECQL4):c.2820C>T (p.Thr940=) rs758900021
NM_004260.3(RECQL4):c.2822C>G (p.Thr941Ser) rs1060501368
NM_004260.3(RECQL4):c.2825A>C (p.Tyr942Ser) rs1586797102
NM_004260.3(RECQL4):c.2834G>A (p.Cys945Tyr) rs1554897223
NM_004260.3(RECQL4):c.2836C>T (p.Arg946Cys) rs763161407
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) rs746594220
NM_004260.3(RECQL4):c.2866_2885+19del rs1554897134
NM_004260.3(RECQL4):c.2869C>T (p.Gln957Ter) rs368081792
NM_004260.3(RECQL4):c.286C>A (p.Arg96=) rs375568877
NM_004260.3(RECQL4):c.2872G>A (p.Ala958Thr) rs1564791450
NM_004260.3(RECQL4):c.2873C>G (p.Ala958Gly) rs758952928
NM_004260.3(RECQL4):c.2876T>G (p.Leu959Arg) rs1554897159
NM_004260.3(RECQL4):c.2877G>A (p.Leu959=) rs779276650
NM_004260.3(RECQL4):c.2879C>T (p.Ala960Val) rs373651108
NM_004260.3(RECQL4):c.2885+1G>T rs1176959485
NM_004260.3(RECQL4):c.2885+3A>T rs756288212
NM_004260.3(RECQL4):c.2885+5G>A rs750560547
NM_004260.3(RECQL4):c.2885+8C>T rs370547126
NM_004260.3(RECQL4):c.2885+9G>A rs578139954
NM_004260.3(RECQL4):c.2885G>A (p.Arg962Lys) rs577462627
NM_004260.3(RECQL4):c.2886-10C>T rs1060504220
NM_004260.3(RECQL4):c.2886-2A>G rs1402322681
NM_004260.3(RECQL4):c.2886-4A>C rs1554897071
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) rs757678397
NM_004260.3(RECQL4):c.2902G>A (p.Val968Met) rs1060501382
NM_004260.3(RECQL4):c.2904G>A (p.Val968=) rs1554897039
NM_004260.3(RECQL4):c.2907C>G (p.Cys969Trp) rs772780752
NM_004260.3(RECQL4):c.2910G>A (p.Leu970=) rs771581851
NM_004260.3(RECQL4):c.2912C>T (p.Ala971Val) rs1202372780
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) rs769634470
NM_004260.3(RECQL4):c.2941G>T (p.Gly981Cys) rs757541591
NM_004260.3(RECQL4):c.2943C>G (p.Gly981=) rs1362234337
NM_004260.3(RECQL4):c.2948G>A (p.Ser983Asn) rs1586795561
NM_004260.3(RECQL4):c.2949C>T (p.Ser983=) rs751727270
NM_004260.3(RECQL4):c.2952C>T (p.Ser984=) rs373784742
NM_004260.3(RECQL4):c.2953G>A (p.Val985Met) rs200629599
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) rs1554896950
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) rs918047641
NM_004260.3(RECQL4):c.3006_3007TG[1] (p.Val1003fs) rs1586795055
NM_004260.3(RECQL4):c.3009G>A (p.Val1003=) rs34919378
NM_004260.3(RECQL4):c.300C>T (p.Gly100=) rs34496005
NM_004260.3(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964
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.3025C>T (p.Gln1009Ter) rs1564790457
NM_004260.3(RECQL4):c.3027G>A (p.Gln1009=) rs372660887
NM_004260.3(RECQL4):c.3032A>G (p.Gln1011Arg) rs765732606
NM_004260.3(RECQL4):c.3033G>A (p.Gln1011=) rs1478532229
NM_004260.3(RECQL4):c.3042C>T (p.His1014=) rs750400159
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+1del rs1586794620
NM_004260.3(RECQL4):c.3055+4C>T rs772320981
NM_004260.3(RECQL4):c.3055+5G>A rs377031190
NM_004260.3(RECQL4):c.3055+6C>T rs779017449
NM_004260.3(RECQL4):c.3055+7C>G rs372511135
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3056-5G>A rs774320251
NM_004260.3(RECQL4):c.3056-6C>T rs748382510
NM_004260.3(RECQL4):c.3058G>A (p.Val1020Met) rs114149451
NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232
NM_004260.3(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.3(RECQL4):c.3062G>C (p.Arg1021Pro) rs34666647
NM_004260.3(RECQL4):c.3065G>A (p.Arg1022His) rs560476442
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) rs1586793995
NM_004260.3(RECQL4):c.3072A>G (p.Thr1024=) rs754479836
NM_004260.3(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008
NM_004260.3(RECQL4):c.3072del (p.Val1026fs) rs386833852
NM_004260.3(RECQL4):c.3088T>G (p.Phe1030Val) rs759912361
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3092G>C (p.Ser1031Thr) rs1307953192
NM_004260.3(RECQL4):c.309G>A (p.Pro103=) rs4251688
NM_004260.3(RECQL4):c.3101C>T (p.Ala1034Val) rs1586793697
NM_004260.3(RECQL4):c.3102C>T (p.Ala1034=) rs774570166
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) rs370867731
NM_004260.3(RECQL4):c.3120G>A (p.Pro1040=) rs771832340
NM_004260.3(RECQL4):c.3127C>T (p.Leu1043=) rs4925828
NM_004260.3(RECQL4):c.3131C>T (p.Thr1044Ile) rs778762414
NM_004260.3(RECQL4):c.3132C>T (p.Thr1044=) rs373238823
NM_004260.3(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691
NM_004260.3(RECQL4):c.3139_3140GA[1] (p.Lys1048fs) rs773765879
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.3148C>T (p.Gln1050Ter) rs1554896691
NM_004260.3(RECQL4):c.3154T>A (p.Cys1052Ser) rs573929442
NM_004260.3(RECQL4):c.3156T>C (p.Cys1052=) rs200530038
NM_004260.3(RECQL4):c.315C>G (p.Tyr105Ter) rs766643335
NM_004260.3(RECQL4):c.3161T>G (p.Phe1054Cys) rs1564789631
NM_004260.3(RECQL4):c.3162C>T (p.Phe1054=) rs373372297
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) rs199658221
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) rs1564789441
NM_004260.3(RECQL4):c.318del (p.Gln107fs) rs775439596
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.3204C>T (p.Ala1068=) rs764423233
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.3207T>C (p.Arg1069=) rs1060504218
NM_004260.3(RECQL4):c.3210G>A (p.Leu1070=) rs539631209
NM_004260.3(RECQL4):c.3212G>A (p.Arg1071His) rs773856131
NM_004260.3(RECQL4):c.3216A>G (p.Arg1072=) rs1060504212
NM_004260.3(RECQL4):c.3218C>T (p.Thr1073Ile) rs775225569
NM_004260.3(RECQL4):c.3225G>A (p.Gln1075=) rs1554896553
NM_004260.3(RECQL4):c.3227C>T (p.Ala1076Val) rs1489682094
NM_004260.3(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660
NM_004260.3(RECQL4):c.3236+4G>A rs575764344
NM_004260.3(RECQL4):c.3236+9G>A rs747467559
NM_004260.3(RECQL4):c.3237-1G>A rs1586791945
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.3246C>T (p.Phe1082=) rs748604051
NM_004260.3(RECQL4):c.3248C>T (p.Pro1083Leu) rs1586791818
NM_004260.3(RECQL4):c.3253T>C (p.Cys1085Arg) rs1161967688
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) rs768802673
NM_004260.3(RECQL4):c.3262T>C (p.Cys1088Arg) rs1554896393
NM_004260.3(RECQL4):c.3265C>G (p.Leu1089Val) rs1350035847
NM_004260.3(RECQL4):c.3268G>A (p.Glu1090Lys) rs756401653
NM_004260.3(RECQL4):c.3268G>C (p.Glu1090Gln) rs756401653
NM_004260.3(RECQL4):c.3277del (p.Asp1093fs) rs1356876749
NM_004260.3(RECQL4):c.3280G>T (p.Glu1094Ter) rs1586791537
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.3303G>A (p.Lys1101=) rs771528925
NM_004260.3(RECQL4):c.3305A>G (p.Asp1102Gly) rs762384825
NM_004260.3(RECQL4):c.3309G>T (p.Leu1103=) rs986482653
NM_004260.3(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097
NM_004260.3(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004260.3(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464
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) rs1586830068
NM_004260.3(RECQL4):c.3325G>C (p.Glu1109Gln) rs1586791117
NM_004260.3(RECQL4):c.3327G>A (p.Glu1109=) rs992381749
NM_004260.3(RECQL4):c.3334G>A (p.Glu1112Lys) rs753620447
NM_004260.3(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495
NM_004260.3(RECQL4):c.3338G>A (p.Gly1113Glu) rs572936673
NM_004260.3(RECQL4):c.3342G>C (p.Gln1114His) rs990831417
NM_004260.3(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582
NM_004260.3(RECQL4):c.3348G>A (p.Pro1116=) rs368712314
NM_004260.3(RECQL4):c.3358G>A (p.Glu1120Lys) rs776023102
NM_004260.3(RECQL4):c.335A>G (p.Asn112Ser) rs372651895
NM_004260.3(RECQL4):c.335A>T (p.Asn112Ile) rs372651895
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.3363C>T (p.Asp1121=) rs148752485
NM_004260.3(RECQL4):c.3364G>A (p.Ala1122Thr) rs369843844
NM_004260.3(RECQL4):c.3370G>A (p.Gly1124Ser) rs1586790742
NM_004260.3(RECQL4):c.3373C>A (p.Pro1125Thr) rs1253536369
NM_004260.3(RECQL4):c.3375C>T (p.Pro1125=) rs749208991
NM_004260.3(RECQL4):c.3376G>A (p.Glu1126Lys) rs779826649
NM_004260.3(RECQL4):c.3377A>G (p.Glu1126Gly) rs1030415007
NM_004260.3(RECQL4):c.3379C>T (p.Pro1127Ser) rs1418891842
NM_004260.3(RECQL4):c.337C>A (p.Leu113Met) rs370011366
NM_004260.3(RECQL4):c.3384G>C (p.Gly1128=) rs376559433
NM_004260.3(RECQL4):c.3388G>A (p.Ala1130Thr) rs1186946412
NM_004260.3(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291
NM_004260.3(RECQL4):c.3392G>T (p.Arg1131Ile) rs201369291
NM_004260.3(RECQL4):c.3393+1G>A rs1586790519
NM_004260.3(RECQL4):c.3393+2T>G rs557284122
NM_004260.3(RECQL4):c.3393+5G>A rs1214839248
NM_004260.3(RECQL4):c.3393+7_3393+8delinsAT rs1060504210
NM_004260.3(RECQL4):c.3393+8_3393+9inv
NM_004260.3(RECQL4):c.3394-1G>C rs752301125
NM_004260.3(RECQL4):c.3394-9T>G rs746656592
NM_004260.3(RECQL4):c.3394C>T (p.Leu1132Phe) rs1554895894
NM_004260.3(RECQL4):c.3402T>C (p.Asp1134=) rs371037028
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) rs759478327
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.3435G>C (p.Gln1145His) rs61755066
NM_004260.3(RECQL4):c.3438C>T (p.Phe1146=) rs1554895855
NM_004260.3(RECQL4):c.3440T>C (p.Leu1147Pro) rs1446094881
NM_004260.3(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077
NM_004260.3(RECQL4):c.3444C>T (p.Ser1148=) rs754479731
NM_004260.3(RECQL4):c.3446T>C (p.Leu1149Pro) rs1358801934
NM_004260.3(RECQL4):c.3450G>A (p.Arg1150=) rs1554895831
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.3457G>A (p.Glu1153Lys) rs564143545
NM_004260.3(RECQL4):c.345C>T (p.Gly115=) rs377027093
NM_004260.3(RECQL4):c.3465C>T (p.Phe1155=) rs376874393
NM_004260.3(RECQL4):c.3467C>T (p.Ser1156Phe) rs373652049
NM_004260.3(RECQL4):c.3474G>A (p.Arg1158=) rs1060504221
NM_004260.3(RECQL4):c.3480G>A (p.Val1160=) rs34914400
NM_004260.3(RECQL4):c.3484C>T (p.Arg1162Cys) rs773088003
NM_004260.3(RECQL4):c.3485G>A (p.Arg1162His) rs747815189
NM_004260.3(RECQL4):c.3485G>C (p.Arg1162Pro) rs747815189
NM_004260.3(RECQL4):c.3493C>G (p.His1165Asp) rs774202918
NM_004260.3(RECQL4):c.3495C>T (p.His1165=) rs202083938
NM_004260.3(RECQL4):c.3496G>A (p.Gly1166Ser) rs779410033
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+10G>A rs908693736
NM_004260.3(RECQL4):c.3502+1G>C rs757563486
NM_004260.3(RECQL4):c.3502+4A>G rs1586788693
NM_004260.3(RECQL4):c.3502+8C>G rs1060504222
NM_004260.3(RECQL4):c.3502G>A (p.Gly1168Arg) rs781543298
NM_004260.3(RECQL4):c.3503-4G>A rs747471318
NM_004260.3(RECQL4):c.3503-5C>G rs539465528
NM_004260.3(RECQL4):c.3507C>T (p.Ser1169=) rs370738615
NM_004260.3(RECQL4):c.3508C>T (p.Pro1170Ser) rs1038354357
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.3519G>A (p.Pro1173=) rs754019797
NM_004260.3(RECQL4):c.3519G>T (p.Pro1173=) rs754019797
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.3523C>T (p.Gln1175Ter) rs879192998
NM_004260.3(RECQL4):c.3526G>A (p.Val1176Met) rs751477241
NM_004260.3(RECQL4):c.3526G>C (p.Val1176Leu) rs751477241
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.3531C>T (p.Tyr1177=) rs139228543
NM_004260.3(RECQL4):c.3532G>A (p.Gly1178Arg) rs776146178
NM_004260.3(RECQL4):c.3532G>T (p.Gly1178Trp) rs776146178
NM_004260.3(RECQL4):c.353A>G (p.Gln118Arg) rs757435100
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) rs370069034
NM_004260.3(RECQL4):c.3544C>T (p.Arg1182Cys) rs376981214
NM_004260.3(RECQL4):c.3545G>A (p.Arg1182His) rs557256260
NM_004260.3(RECQL4):c.354G>A (p.Gln118=) rs544163984
NM_004260.3(RECQL4):c.355-3C>G rs778042700
NM_004260.3(RECQL4):c.355-5C>T rs372368046
NM_004260.3(RECQL4):c.355-7C>T rs376295056
NM_004260.3(RECQL4):c.355-8C>T rs368782236
NM_004260.3(RECQL4):c.3552G>A (p.Trp1184Ter) rs1564786587
NM_004260.3(RECQL4):c.3554G>C (p.Arg1185Thr) rs774756135
NM_004260.3(RECQL4):c.3557A>G (p.Lys1186Arg) rs745722387
NM_004260.3(RECQL4):c.3560A>G (p.Tyr1187Cys) rs1586787364
NM_004260.3(RECQL4):c.3563T>C (p.Leu1188Pro) rs535259922
NM_004260.3(RECQL4):c.3569T>C (p.Leu1190Pro) rs752487649
NM_004260.3(RECQL4):c.3573C>T (p.Ser1191=) rs199885535
NM_004260.3(RECQL4):c.3574_3597del (p.Phe1192_Ala1199del) rs758966528
NM_004260.3(RECQL4):c.3578A>G (p.His1193Arg) rs753427189
NM_004260.3(RECQL4):c.357C>T (p.Ala119=) rs758460596
NM_004260.3(RECQL4):c.3580G>A (p.Ala1194Thr) rs201809411
NM_004260.3(RECQL4):c.3582C>T (p.Ala1194=) rs772747279
NM_004260.3(RECQL4):c.3585G>A (p.Leu1195=) rs767956471
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) rs546643758
NM_004260.3(RECQL4):c.3594G>A (p.Leu1198=) rs146398243
NM_004260.3(RECQL4):c.3599C>T (p.Thr1200Met) rs770138542
NM_004260.3(RECQL4):c.359G>C (p.Gly120Ala) rs779891153
NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) rs1554903709
NM_004260.3(RECQL4):c.3600G>A (p.Thr1200=) rs35225938
NM_004260.3(RECQL4):c.3602A>G (p.Glu1201Gly) rs781313959
NM_004260.3(RECQL4):c.3606G>C (p.Glu1202Asp) rs1259980040
NM_004260.3(RECQL4):c.3609C>T (p.Leu1203=) rs201384843
NM_004260.3(RECQL4):c.3609_3611del (p.Leu1204del) rs1554895414
NM_004260.3(RECQL4):c.3618G>A (p.Val1206=) rs754822264
NM_004260.3(RECQL4):c.361C>G (p.Pro121Ala) rs756069461
NM_004260.3(RECQL4):c.3622C>T (p.Arg1208Cys) rs41555416
NM_004260.3(RECQL4):c.3623G>A (p.Arg1208His) rs563816306
NM_004260.3(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004260.3(RECQL4):c.371G>A (p.Gly124Asp) rs368160871
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) rs370624395
NM_004260.3(RECQL4):c.388C>T (p.Leu130=) rs878854650
NM_004260.3(RECQL4):c.38C>T (p.Ala13Val) rs1489214833
NM_004260.3(RECQL4):c.391G>C (p.Gly131Arg) rs561427528
NM_004260.3(RECQL4):c.392G>A (p.Gly131Glu) rs542844885
NM_004260.3(RECQL4):c.399C>T (p.Ala133=) rs1554903680
NM_004260.3(RECQL4):c.40T>C (p.Trp14Arg) rs758579262
NM_004260.3(RECQL4):c.410C>T (p.Ala137Val) rs527934999
NM_004260.3(RECQL4):c.417C>T (p.Thr139=) rs1554903649
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) rs1464115370
NM_004260.3(RECQL4):c.440C>T (p.Pro147Leu) rs759034699
NM_004260.3(RECQL4):c.444C>T (p.Val148=) rs559167672
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.465C>G (p.Val155=) rs116137512
NM_004260.3(RECQL4):c.465C>T (p.Val155=) rs116137512
NM_004260.3(RECQL4):c.466A>T (p.Ser156Cys) rs1586826374
NM_004260.3(RECQL4):c.475C>T (p.Pro159Ser) rs868299027
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) rs1449551392
NM_004260.3(RECQL4):c.483G>C (p.Gln161His) rs985628516
NM_004260.3(RECQL4):c.486C>A (p.Leu162=) rs955555365
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.492G>A (p.Glu164=) rs368335924
NM_004260.3(RECQL4):c.493C>A (p.Pro165Thr) rs766897765
NM_004260.3(RECQL4):c.493C>T (p.Pro165Ser) rs766897765
NM_004260.3(RECQL4):c.504G>A (p.Arg168=) rs750760763
NM_004260.3(RECQL4):c.507A>G (p.Pro169=) rs755588645
NM_004260.3(RECQL4):c.509G>A (p.Gly170Asp) rs768956367
NM_004260.3(RECQL4):c.511C>T (p.Arg171Trp) rs775651175
NM_004260.3(RECQL4):c.513G>C (p.Arg171=) rs878854651
NM_004260.3(RECQL4):c.514C>T (p.Leu172Phe) rs188859497
NM_004260.3(RECQL4):c.516C>G (p.Leu172=) rs1554903496
NM_004260.3(RECQL4):c.520C>G (p.His174Asp) rs369382124
NM_004260.3(RECQL4):c.520C>T (p.His174Tyr) rs369382124
NM_004260.3(RECQL4):c.525G>A (p.Leu175=) rs562163514
NM_004260.3(RECQL4):c.52T>C (p.Phe18Leu) rs941281893
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) rs1001801628
NM_004260.3(RECQL4):c.543G>A (p.Gln181=) rs34159914
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) rs751922746
NM_004260.3(RECQL4):c.556C>T (p.Leu186=) rs1171892293
NM_004260.3(RECQL4):c.558A>G (p.Leu186=) rs376582536
NM_004260.3(RECQL4):c.559G>A (p.Asp187Asn) rs775849340
NM_004260.3(RECQL4):c.563C>T (p.Pro188Leu) rs773241386
NM_004260.3(RECQL4):c.565G>A (p.Gly189Ser) rs34371341
NM_004260.3(RECQL4):c.574C>T (p.Gln192Ter) rs1564808132
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.594C>G (p.Val198=) rs1060504214
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) rs990552711
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) rs757780731
NM_004260.3(RECQL4):c.612C>T (p.Ala204=) rs1026557548
NM_004260.3(RECQL4):c.614C>T (p.Pro205Leu) rs751975669
NM_004260.3(RECQL4):c.615C>G (p.Pro205=) rs35639991
NM_004260.3(RECQL4):c.621C>G (p.Ala207=) rs1554903266
NM_004260.3(RECQL4):c.626G>A (p.Arg209Lys) rs753018522
NM_004260.3(RECQL4):c.629C>G (p.Pro210Arg) rs746917248
NM_004260.3(RECQL4):c.631G>C (p.Asp211His) rs776528292
NM_004260.3(RECQL4):c.633T>C (p.Asp211=) rs571624962
NM_004260.3(RECQL4):c.634C>G (p.Leu212Val) rs377012693
NM_004260.3(RECQL4):c.634C>T (p.Leu212=) rs377012693
NM_004260.3(RECQL4):c.641C>A (p.Ser214Ter) rs1317950691
NM_004260.3(RECQL4):c.642_643AG[1] (p.Glu215fs) rs1586824938
NM_004260.3(RECQL4):c.643G>A (p.Glu215Lys) rs749049274
NM_004260.3(RECQL4):c.646G>A (p.Glu216Lys) rs201301365
NM_004260.3(RECQL4):c.663C>T (p.Ile221=) rs367960606
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) rs753959069
NM_004260.3(RECQL4):c.674_675insT (p.Ala226fs) rs1564807584
NM_004260.3(RECQL4):c.675G>A (p.Ser225=) rs760733547
NM_004260.3(RECQL4):c.681C>T (p.Val227=) rs567959067
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.690_709del (p.Gly231fs) rs1586824430
NM_004260.3(RECQL4):c.694G>A (p.Ala232Thr) rs776332812
NM_004260.3(RECQL4):c.699C>T (p.Gly233=) rs770614796
NM_004260.3(RECQL4):c.69G>A (p.Gly23=) rs1034662952
NM_004260.3(RECQL4):c.701C>G (p.Ser234Cys) rs746487281
NM_004260.3(RECQL4):c.705G>A (p.Gln235=) rs1177971610
NM_004260.3(RECQL4):c.709C>G (p.Pro237Ala) rs370391716
NM_004260.3(RECQL4):c.712G>A (p.Glu238Lys) rs587778651
NM_004260.3(RECQL4):c.716C>T (p.Ala239Val) rs146709578
NM_004260.3(RECQL4):c.725T>G (p.Phe242Cys) rs780215594
NM_004260.3(RECQL4):c.732A>C (p.Glu244Asp) rs750451940
NM_004260.3(RECQL4):c.735C>T (p.Val245=) rs373764166
NM_004260.3(RECQL4):c.736A>C (p.Ser246Arg) rs1564807240
NM_004260.3(RECQL4):c.737G>C (p.Ser246Thr) rs1586824146
NM_004260.3(RECQL4):c.740T>C (p.Ile247Thr) rs752673956
NM_004260.3(RECQL4):c.742C>T (p.Arg248Cys) rs540719285
NM_004260.3(RECQL4):c.743G>A (p.Arg248His) rs759352592
NM_004260.3(RECQL4):c.745G>T (p.Val249Leu) rs756397882
NM_004260.3(RECQL4):c.752del (p.Ser251fs) rs1064796290
NM_004260.3(RECQL4):c.755C>T (p.Pro252Leu) rs199773279
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) rs781314533
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) rs543009701
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.804C>G (p.Pro268=) rs1240656822
NM_004260.3(RECQL4):c.804C>T (p.Pro268=) rs1240656822
NM_004260.3(RECQL4):c.805del (p.Trp269fs) rs1060501370
NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
NM_004260.3(RECQL4):c.806G>C (p.Trp269Ser) rs137853231
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.836G>A (p.Ser279Asn) rs780327528
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=) rs1586835584
NM_004260.3(RECQL4):c.85-3C>G rs1053090518
NM_004260.3(RECQL4):c.85-4A>T rs942704068
NM_004260.3(RECQL4):c.85-8C>T rs1315086855
NM_004260.3(RECQL4):c.851C>T (p.Pro284Leu) rs972715381
NM_004260.3(RECQL4):c.857C>G (p.Ser286Trp) rs757320755
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.864G>A (p.Gly288=) rs1182438148
NM_004260.3(RECQL4):c.865G>A (p.Ala289Thr) rs200382712
NM_004260.3(RECQL4):c.866C>T (p.Ala289Val) rs1586823053
NM_004260.3(RECQL4):c.869G>A (p.Gly290Glu) rs1007744170
NM_004260.3(RECQL4):c.870G>A (p.Gly290=) rs889504089
NM_004260.3(RECQL4):c.871del (p.Ala291fs) rs1389647533
NM_004260.3(RECQL4):c.875T>C (p.Val292Ala) rs1319653117
NM_004260.3(RECQL4):c.883G>A (p.Glu295Lys) rs755963144
NM_004260.3(RECQL4):c.889G>A (p.Asp297Asn) rs767170672
NM_004260.3(RECQL4):c.88G>A (p.Asp30Asn) rs934908599
NM_004260.3(RECQL4):c.891C>G (p.Asp297Glu) rs34700133
NM_004260.3(RECQL4):c.891C>T (p.Asp297=) rs34700133
NM_004260.3(RECQL4):c.892C>T (p.Pro298Ser) rs892796827
NM_004260.3(RECQL4):c.897A>G (p.Pro299=) rs1554902618
NM_004260.3(RECQL4):c.8G>T (p.Arg3Leu) rs979012066
NM_004260.3(RECQL4):c.901G>A (p.Glu301Lys) rs34633809
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.910C>T (p.Gln304Ter) rs934534826
NM_004260.3(RECQL4):c.919C>T (p.Pro307Ser) rs1338979565
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.925C>T (p.Gln309Ter) rs1554902528
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) rs376493359
NM_004260.3(RECQL4):c.944C>T (p.Ser315Leu) rs376493359
NM_004260.3(RECQL4):c.945G>A (p.Ser315=) rs371593078
NM_004260.3(RECQL4):c.946A>C (p.Asn316His) rs915773238
NM_004260.3(RECQL4):c.948C>T (p.Asn316=) rs747324399
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) rs769792064
NM_004260.3(RECQL4):c.969C>T (p.Ser323=) rs745658597
NM_004260.3(RECQL4):c.970C>T (p.Pro324Ser) rs781105713
NM_004260.3(RECQL4):c.971C>T (p.Pro324Leu) rs756986756
NM_004260.3(RECQL4):c.974C>G (p.Ser325Cys) rs1441068518
NM_004260.3(RECQL4):c.998C>G (p.Ala333Gly) rs1586822076
NM_004260.3(RECQL4):c.999T>C (p.Ala333=) rs368084547
NM_004260.3(RECQL4):c.99G>T (p.Ala33=) rs546842338
NM_004260.4(RECQL4):c.1000G>A (p.Glu334Lys)
NM_004260.4(RECQL4):c.1004G>A (p.Gly335Asp)
NM_004260.4(RECQL4):c.1007C>T (p.Thr336Ile)
NM_004260.4(RECQL4):c.1010C>A (p.Ala337Asp)
NM_004260.4(RECQL4):c.1010C>T (p.Ala337Val)
NM_004260.4(RECQL4):c.1011C>T (p.Ala337=) rs759971028
NM_004260.4(RECQL4):c.1014C>G (p.Pro338=) rs373657692
NM_004260.4(RECQL4):c.1024T>C (p.Phe342Leu)
NM_004260.4(RECQL4):c.102G>T (p.Ala34=) rs1043318406
NM_004260.4(RECQL4):c.1031G>T (p.Arg344Leu)
NM_004260.4(RECQL4):c.1036G>A (p.Ala346Thr)
NM_004260.4(RECQL4):c.1037C>G (p.Ala346Gly)
NM_004260.4(RECQL4):c.1037C>T (p.Ala346Val)
NM_004260.4(RECQL4):c.1038_1039del (p.Arg347fs) rs1586821679
NM_004260.4(RECQL4):c.1047C>T (p.Asp349=) rs766767449
NM_004260.4(RECQL4):c.1055A>G (p.Asn352Ser)
NM_004260.4(RECQL4):c.1057T>G (p.Tyr353Asp)
NM_004260.4(RECQL4):c.1059C>T (p.Tyr353=) rs750709443
NM_004260.4(RECQL4):c.1066C>T (p.Leu356Phe)
NM_004260.4(RECQL4):c.1068_1094del (p.Asn357_Arg365del)
NM_004260.4(RECQL4):c.106G>C (p.Glu36Gln)
NM_004260.4(RECQL4):c.1070A>G (p.Asn357Ser)
NM_004260.4(RECQL4):c.1071C>T (p.Asn357=) rs747857375
NM_004260.4(RECQL4):c.1080G>C (p.Gln360His)
NM_004260.4(RECQL4):c.1084C>T (p.His362Tyr)
NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) rs377589237
NM_004260.4(RECQL4):c.1092G>C (p.Val364=) rs1292950539
NM_004260.4(RECQL4):c.109G>A (p.Glu37Lys)
NM_004260.4(RECQL4):c.1103C>A (p.Ala368Glu)
NM_004260.4(RECQL4):c.1125C>A (p.Arg375=) rs560231629
NM_004260.4(RECQL4):c.1125C>G (p.Arg375=) rs560231629
NM_004260.4(RECQL4):c.1125C>T (p.Arg375=)
NM_004260.4(RECQL4):c.1129C>T (p.Gln377Ter)
NM_004260.4(RECQL4):c.1131+7C>T rs1586820647
NM_004260.4(RECQL4):c.1131+8A>G rs932213064
NM_004260.4(RECQL4):c.1131+9G>C rs373765596
NM_004260.4(RECQL4):c.1132-1G>A
NM_004260.4(RECQL4):c.1132-8dup rs747674070
NM_004260.4(RECQL4):c.1137G>A (p.Trp379Ter)
NM_004260.4(RECQL4):c.1150C>T (p.Arg384Trp)
NM_004260.4(RECQL4):c.1155G>A (p.Lys385=) rs1263658929
NM_004260.4(RECQL4):c.1164_1165GT[1] (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.116G>A (p.Arg39His)
NM_004260.4(RECQL4):c.1173G>A (p.Gly391=) rs780235892
NM_004260.4(RECQL4):c.118+3G>A
NM_004260.4(RECQL4):c.118+3G>T
NM_004260.4(RECQL4):c.1180G>A (p.Gly394Ser)
NM_004260.4(RECQL4):c.1185C>T (p.Ala395=) rs539629689
NM_004260.4(RECQL4):c.1187_1188del (p.Thr396fs)
NM_004260.4(RECQL4):c.119-2A>C
NM_004260.4(RECQL4):c.119-4G>T
NM_004260.4(RECQL4):c.1199A>C (p.Lys400Thr)
NM_004260.4(RECQL4):c.1209T>C (p.Cys403=) rs949806741
NM_004260.4(RECQL4):c.1210T>C (p.Phe404Leu)
NM_004260.4(RECQL4):c.1212C>T (p.Phe404=) rs766079419
NM_004260.4(RECQL4):c.1213C>T (p.Leu405=) rs973308698
NM_004260.4(RECQL4):c.1214T>C (p.Leu405Pro)
NM_004260.4(RECQL4):c.1218C>T (p.Asn406=) rs760132114
NM_004260.4(RECQL4):c.121C>A (p.Leu41Ile)
NM_004260.4(RECQL4):c.1233C>T (p.His411=) rs549438457
NM_004260.4(RECQL4):c.1237G>A (p.Ala413Thr) rs531310005
NM_004260.4(RECQL4):c.1253G>A (p.Arg418Gln)
NM_004260.4(RECQL4):c.1258+5G>C
NM_004260.4(RECQL4):c.1267G>T (p.Glu423Ter)
NM_004260.4(RECQL4):c.1270G>A (p.Asp424Asn)
NM_004260.4(RECQL4):c.1270G>C (p.Asp424His)
NM_004260.4(RECQL4):c.1291G>A (p.Glu431Lys)
NM_004260.4(RECQL4):c.1292A>G (p.Glu431Gly)
NM_004260.4(RECQL4):c.1303C>T (p.Pro435Ser)
NM_004260.4(RECQL4):c.1309C>T (p.Pro437Ser) rs760413890
NM_004260.4(RECQL4):c.1318G>A (p.Val440Ile)
NM_004260.4(RECQL4):c.1326G>A (p.Glu442=)
NM_004260.4(RECQL4):c.1334G>C (p.Ser445Thr)
NM_004260.4(RECQL4):c.1345A>G (p.Thr449Ala)
NM_004260.4(RECQL4):c.1346C>T (p.Thr449Ile)
NM_004260.4(RECQL4):c.1375T>C (p.Ser459Pro)
NM_004260.4(RECQL4):c.1384T>C (p.Leu462=) rs759459549
NM_004260.4(RECQL4):c.138C>G (p.Arg46=) rs887031349
NM_004260.4(RECQL4):c.1391-2A>G
NM_004260.4(RECQL4):c.1391-3C>T
NM_004260.4(RECQL4):c.1404G>C (p.Glu468Asp)
NM_004260.4(RECQL4):c.1409dup (p.Gln471fs)
NM_004260.4(RECQL4):c.1425G>C (p.Gln475His)
NM_004260.4(RECQL4):c.1435C>T (p.Gln479Ter)
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp)
NM_004260.4(RECQL4):c.1444C>A (p.Arg482Ser)
NM_004260.4(RECQL4):c.1459C>T (p.Arg487Cys)
NM_004260.4(RECQL4):c.1465G>C (p.Val489Leu)
NM_004260.4(RECQL4):c.1483+3G>T
NM_004260.4(RECQL4):c.1487T>C (p.Ile496Thr)
NM_004260.4(RECQL4):c.1490C>A (p.Ser497Tyr)
NM_004260.4(RECQL4):c.1494G>T (p.Thr498=) rs557281237
NM_004260.4(RECQL4):c.14G>T (p.Arg5Leu)
NM_004260.4(RECQL4):c.1517C>G (p.Ala506Gly)
NM_004260.4(RECQL4):c.1518C>A (p.Ala506=)
NM_004260.4(RECQL4):c.1518C>T (p.Ala506=) rs757280460
NM_004260.4(RECQL4):c.152C>T (p.Thr51Ile)
NM_004260.4(RECQL4):c.1539G>C (p.Gln513His)
NM_004260.4(RECQL4):c.1543C>T (p.Pro515Ser)
NM_004260.4(RECQL4):c.1558A>G (p.Ser520Gly)
NM_004260.4(RECQL4):c.1575C>G (p.Cys525Trp)
NM_004260.4(RECQL4):c.1575C>T (p.Cys525=) rs1318317428
NM_004260.4(RECQL4):c.1580C>T (p.Thr527Met)
NM_004260.4(RECQL4):c.1583del (p.Leu528fs)
NM_004260.4(RECQL4):c.1585G>C (p.Val529Leu)
NM_004260.4(RECQL4):c.1587C>T (p.Val529=) rs767967343
NM_004260.4(RECQL4):c.1592C>T (p.Ser531Phe)
NM_004260.4(RECQL4):c.1596C>T (p.Pro532=) rs767538015
NM_004260.4(RECQL4):c.1597C>G (p.Leu533Val)
NM_004260.4(RECQL4):c.1619A>G (p.Gln540Arg)
NM_004260.4(RECQL4):c.1620+3G>C
NM_004260.4(RECQL4):c.1620+9A>G rs779520713
NM_004260.4(RECQL4):c.1620G>A (p.Gln540=)
NM_004260.4(RECQL4):c.1621-3C>G
NM_004260.4(RECQL4):c.1621G>A (p.Val541Met)
NM_004260.4(RECQL4):c.1626T>C (p.Ser542=) rs754134346
NM_004260.4(RECQL4):c.1628G>T (p.Gly543Val)
NM_004260.4(RECQL4):c.1638G>A (p.Pro546=) rs775478350
NM_004260.4(RECQL4):c.1659A>G (p.Ile553Met)
NM_004260.4(RECQL4):c.1661A>T (p.His554Leu)
NM_004260.4(RECQL4):c.1667G>A (p.Gly556Asp)
NM_004260.4(RECQL4):c.1669A>G (p.Met557Val)
NM_004260.4(RECQL4):c.166G>A (p.Gly56Ser)
NM_004260.4(RECQL4):c.1702A>G (p.Lys568Glu)
NM_004260.4(RECQL4):c.1704+2T>C
NM_004260.4(RECQL4):c.1704+3G>C
NM_004260.4(RECQL4):c.1714G>A (p.Ala572Thr)
NM_004260.4(RECQL4):c.1716C>T (p.Ala572=) rs1586811066
NM_004260.4(RECQL4):c.1738A>C (p.Thr580Pro)
NM_004260.4(RECQL4):c.173G>C (p.Gly58Ala)
NM_004260.4(RECQL4):c.1741C>T (p.Pro581Ser)
NM_004260.4(RECQL4):c.1759G>A (p.Ala587Thr)
NM_004260.4(RECQL4):c.1759del (p.Ala587fs)
NM_004260.4(RECQL4):c.175C>A (p.Leu59Ile)
NM_004260.4(RECQL4):c.1760C>T (p.Ala587Val)
NM_004260.4(RECQL4):c.1761G>A (p.Ala587=) rs777920456
NM_004260.4(RECQL4):c.1762G>A (p.Gly588Arg)
NM_004260.4(RECQL4):c.1769T>C (p.Leu590Pro)
NM_004260.4(RECQL4):c.1771C>T (p.Pro591Ser)
NM_004260.4(RECQL4):c.1772C>G (p.Pro591Arg)
NM_004260.4(RECQL4):c.1778C>A (p.Ala593Asp)
NM_004260.4(RECQL4):c.1779C>A (p.Ala593=) rs369939552
NM_004260.4(RECQL4):c.1781C>T (p.Ala594Val)
NM_004260.4(RECQL4):c.1787T>C (p.Leu596Pro)
NM_004260.4(RECQL4):c.1792C>T (p.Pro598Ser)
NM_004260.4(RECQL4):c.1804G>T (p.Ala602Ser)
NM_004260.4(RECQL4):c.1810A>G (p.Ile604Val)
NM_004260.4(RECQL4):c.1821C>T (p.Ala607=) rs369178106
NM_004260.4(RECQL4):c.1826G>A (p.Cys609Tyr)
NM_004260.4(RECQL4):c.182G>A (p.Ser61Asn)
NM_004260.4(RECQL4):c.1841C>T (p.Ser614Phe)
NM_004260.4(RECQL4):c.1842C>T (p.Ser614=) rs1371858622
NM_004260.4(RECQL4):c.1846A>G (p.Asn616Asp)
NM_004260.4(RECQL4):c.1851C>G (p.Phe617Leu)
NM_004260.4(RECQL4):c.1855C>T (p.Pro619Ser)
NM_004260.4(RECQL4):c.1856C>T (p.Pro619Leu)
NM_004260.4(RECQL4):c.1859G>A (p.Cys620Tyr)
NM_004260.4(RECQL4):c.1860C>A (p.Cys620Ter)
NM_004260.4(RECQL4):c.1874G>A (p.Cys625Tyr)
NM_004260.4(RECQL4):c.1877A>G (p.Lys626Arg)
NM_004260.4(RECQL4):c.1878+7C>T rs1586809761
NM_004260.4(RECQL4):c.1879-3C>A
NM_004260.4(RECQL4):c.1879-4G>A rs759652449
NM_004260.4(RECQL4):c.187_196del (p.Glu63fs)
NM_004260.4(RECQL4):c.1887G>C (p.Arg629=) rs774077187
NM_004260.4(RECQL4):c.1892G>T (p.Arg631Leu)
NM_004260.4(RECQL4):c.1895T>C (p.Met632Thr)
NM_004260.4(RECQL4):c.1901T>C (p.Val634Ala)
NM_004260.4(RECQL4):c.1904A>C (p.His635Pro)
NM_004260.4(RECQL4):c.1913T>C (p.Leu638Pro)
NM_004260.4(RECQL4):c.1918C>T (p.Leu640Phe)
NM_004260.4(RECQL4):c.1922C>A (p.Thr641Lys)
NM_004260.4(RECQL4):c.1932C>T (p.Ala644=) rs1368388528
NM_004260.4(RECQL4):c.1936C>A (p.Arg646Ser)
NM_004260.4(RECQL4):c.1937G>A (p.Arg646His)
NM_004260.4(RECQL4):c.1945G>A (p.Ala649Thr)
NM_004260.4(RECQL4):c.1949G>A (p.Ser650Asn)
NM_004260.4(RECQL4):c.1956G>T (p.Val652=) rs1586808634
NM_004260.4(RECQL4):c.1969G>T (p.Ala657Ser)
NM_004260.4(RECQL4):c.1969_2017delinsC (p.Ala657_Asn673delinsHis)
NM_004260.4(RECQL4):c.1970C>T (p.Ala657Val)
NM_004260.4(RECQL4):c.1976C>T (p.Ala659Val)
NM_004260.4(RECQL4):c.1985C>T (p.Pro662Leu)
NM_004260.4(RECQL4):c.1993C>T (p.His665Tyr)
NM_004260.4(RECQL4):c.2000C>T (p.Pro667Leu)
NM_004260.4(RECQL4):c.2005C>T (p.Pro669Ser)
NM_004260.4(RECQL4):c.2012C>G (p.Pro671Arg)
NM_004260.4(RECQL4):c.2015C>T (p.Thr672Ile)
NM_004260.4(RECQL4):c.2019C>T (p.Asn673=) rs748657934
NM_004260.4(RECQL4):c.201G>A (p.Ala67=)
NM_004260.4(RECQL4):c.2025C>A (p.His675Gln)
NM_004260.4(RECQL4):c.2026C>T (p.Leu676Phe)
NM_004260.4(RECQL4):c.2041G>C (p.Asp681His)
NM_004260.4(RECQL4):c.2046G>A (p.Arg682=) rs558318269
NM_004260.4(RECQL4):c.2051C>T (p.Thr684Ile)
NM_004260.4(RECQL4):c.2059-76_3204del
NM_004260.4(RECQL4):c.2060C>T (p.Ala687Val)
NM_004260.4(RECQL4):c.2064G>A (p.Leu688=) rs1586805619
NM_004260.4(RECQL4):c.206C>A (p.Ala69Asp)
NM_004260.4(RECQL4):c.206C>G (p.Ala69Gly)
NM_004260.4(RECQL4):c.206C>T (p.Ala69Val)
NM_004260.4(RECQL4):c.208G>A (p.Glu70Lys)
NM_004260.4(RECQL4):c.2093A>G (p.Gln698Arg)
NM_004260.4(RECQL4):c.2096A>C (p.Asn699Thr)
NM_004260.4(RECQL4):c.2097C>G (p.Asn699Lys)
NM_004260.4(RECQL4):c.2097C>T (p.Asn699=) rs896790337
NM_004260.4(RECQL4):c.2101G>A (p.Asp701Asn)
NM_004260.4(RECQL4):c.2105C>G (p.Ser702Cys)
NM_004260.4(RECQL4):c.2109T>C (p.Ile703=) rs759753484
NM_004260.4(RECQL4):c.2113A>C (p.Ile705Leu)
NM_004260.4(RECQL4):c.2118C>T (p.Tyr706=) rs574326650
NM_004260.4(RECQL4):c.2120G>A (p.Cys707Tyr)
NM_004260.4(RECQL4):c.2124C>G (p.Asn708Lys)
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2130C>T (p.Arg710=) rs757037180
NM_004260.4(RECQL4):c.2133G>A (p.Glu711=) rs757809740
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs)
NM_004260.4(RECQL4):c.2146A>G (p.Ile716Val)
NM_004260.4(RECQL4):c.2154G>A (p.Ala718=) rs745813211
NM_004260.4(RECQL4):c.2157C>T (p.Leu719=) rs781172674
NM_004260.4(RECQL4):c.2165C>G (p.Thr722Ser)
NM_004260.4(RECQL4):c.2170C>G (p.Leu724Val)
NM_004260.4(RECQL4):c.2180C>T (p.Ala727Val)
NM_004260.4(RECQL4):c.2185G>C (p.Val729Leu)
NM_004260.4(RECQL4):c.2188C>T (p.Pro730Ser)
NM_004260.4(RECQL4):c.218C>G (p.Pro73Arg)
NM_004260.4(RECQL4):c.2200+10G>A rs777700633
NM_004260.4(RECQL4):c.2200+9T>C rs993836908
NM_004260.4(RECQL4):c.2204G>A (p.Arg735His)
NM_004260.4(RECQL4):c.2207C>T (p.Ala736Val)
NM_004260.4(RECQL4):c.2208C>T (p.Ala736=) rs1183777303
NM_004260.4(RECQL4):c.2210C>T (p.Pro737Leu)
NM_004260.4(RECQL4):c.2218A>G (p.Thr740Ala)
NM_004260.4(RECQL4):c.2237C>A (p.Ala746Glu)
NM_004260.4(RECQL4):c.2241C>G (p.Gly747=) rs957407351
NM_004260.4(RECQL4):c.2242A>T (p.Met748Leu)
NM_004260.4(RECQL4):c.2263C>T (p.Arg755Trp)
NM_004260.4(RECQL4):c.226C>T (p.Arg76Cys)
NM_004260.4(RECQL4):c.2270A>G (p.Gln757Arg)
NM_004260.4(RECQL4):c.2281A>G (p.Met761Val)
NM_004260.4(RECQL4):c.2288G>A (p.Gly763Asp)
NM_004260.4(RECQL4):c.2296= (p.Arg766=) rs11342077
NM_004260.4(RECQL4):c.2296_2297= (p.Arg766=)
NM_004260.4(RECQL4):c.2302G>C (p.Val768Leu)
NM_004260.4(RECQL4):c.2303T>G (p.Val768Gly)
NM_004260.4(RECQL4):c.2312C>A (p.Thr771Lys)
NM_004260.4(RECQL4):c.2318C>T (p.Ala773Val)
NM_004260.4(RECQL4):c.2329G>A (p.Gly777Arg)
NM_004260.4(RECQL4):c.2330G>A (p.Gly777Glu)
NM_004260.4(RECQL4):c.2330G>C (p.Gly777Ala)
NM_004260.4(RECQL4):c.2341C>T (p.Pro781Ser)
NM_004260.4(RECQL4):c.2347G>A (p.Val783Met)
NM_004260.4(RECQL4):c.2349G>A (p.Val783=) rs759285126
NM_004260.4(RECQL4):c.2354C>T (p.Ala785Val)
NM_004260.4(RECQL4):c.2357T>G (p.Val786Gly)
NM_004260.4(RECQL4):c.2359C>G (p.Leu787Val)
NM_004260.4(RECQL4):c.236G>T (p.Gly79Val)
NM_004260.4(RECQL4):c.2372T>C (p.Leu791Pro)
NM_004260.4(RECQL4):c.2375C>T (p.Pro792Leu)
NM_004260.4(RECQL4):c.237G>T (p.Gly79=) rs954589490
NM_004260.4(RECQL4):c.238C>T (p.Pro80Ser)
NM_004260.4(RECQL4):c.2397G>A (p.Val799=) rs1586802025
NM_004260.4(RECQL4):c.2398C>G (p.Gln800Glu)
NM_004260.4(RECQL4):c.2401G>A (p.Ala801Thr)
NM_004260.4(RECQL4):c.2401G>C (p.Ala801Pro)
NM_004260.4(RECQL4):c.2405_2409dup (p.Arg804fs)
NM_004260.4(RECQL4):c.2410_2414CGGGC[1] (p.Ala805_Gly806insTer)
NM_004260.4(RECQL4):c.2414C>A (p.Ala805Asp)
NM_004260.4(RECQL4):c.2414C>T (p.Ala805Val)
NM_004260.4(RECQL4):c.2418_2419delinsAG (p.Arg807Gly)
NM_004260.4(RECQL4):c.2420G>C (p.Arg807Pro)
NM_004260.4(RECQL4):c.242A>G (p.His81Arg)
NM_004260.4(RECQL4):c.2437C>T (p.His813Tyr)
NM_004260.4(RECQL4):c.2451C>T (p.Phe817=) rs778652987
NM_004260.4(RECQL4):c.2463+10C>G rs752112003
NM_004260.4(RECQL4):c.2463+10C>T rs752112003
NM_004260.4(RECQL4):c.2463+4G>A
NM_004260.4(RECQL4):c.2463+8C>A rs1294337454
NM_004260.4(RECQL4):c.2464-6C>T rs1172497739
NM_004260.4(RECQL4):c.2464-8C>T rs373671393
NM_004260.4(RECQL4):c.2473C>T (p.Leu825=) rs371519199
NM_004260.4(RECQL4):c.2476C>G (p.Arg826Gly)
NM_004260.4(RECQL4):c.2477G>C (p.Arg826Pro)
NM_004260.4(RECQL4):c.2480A>G (p.Glu827Gly)
NM_004260.4(RECQL4):c.2483T>A (p.Leu828Gln)
NM_004260.4(RECQL4):c.2489G>C (p.Arg830Thr)
NM_004260.4(RECQL4):c.2492A>C (p.His831Pro)
NM_004260.4(RECQL4):c.2502C>T (p.Ala834=) rs751755789
NM_004260.4(RECQL4):c.2507G>A (p.Ser836Asn)
NM_004260.4(RECQL4):c.2513A>G (p.Asp838Gly)
NM_004260.4(RECQL4):c.2519T>A (p.Leu840Gln)
NM_004260.4(RECQL4):c.2525T>C (p.Val842Ala)
NM_004260.4(RECQL4):c.2539C>T (p.Gln847Ter)
NM_004260.4(RECQL4):c.2545_2546GT[1] (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.254C>T (p.Ala85Val)
NM_004260.4(RECQL4):c.2550C>G (p.Phe850Leu)
NM_004260.4(RECQL4):c.2552del (p.Pro851fs)
NM_004260.4(RECQL4):c.2555C>T (p.Ala852Val)
NM_004260.4(RECQL4):c.2557_2562TGCACC[5] (p.853_854CT[5])
NM_004260.4(RECQL4):c.2563T>G (p.Cys855Gly)
NM_004260.4(RECQL4):c.2575A>G (p.Arg859Gly)
NM_004260.4(RECQL4):c.2579C>G (p.Pro860Arg)
NM_004260.4(RECQL4):c.2597G>A (p.Gly866Glu)
NM_004260.4(RECQL4):c.2599G>A (p.Ala867Thr)
NM_004260.4(RECQL4):c.2609G>C (p.Gly870Ala)
NM_004260.4(RECQL4):c.2615G>A (p.Arg872Lys)
NM_004260.4(RECQL4):c.2618C>T (p.Pro873Leu)
NM_004260.4(RECQL4):c.2636del (p.Pro879fs)
NM_004260.4(RECQL4):c.2636dup (p.Gln880fs) rs1215700016
NM_004260.4(RECQL4):c.2668G>A (p.Ala890Thr)
NM_004260.4(RECQL4):c.2669C>T (p.Ala890Val)
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn)
NM_004260.4(RECQL4):c.2674G>A (p.Gly892Arg)
NM_004260.4(RECQL4):c.2675G>A (p.Gly892Glu)
NM_004260.4(RECQL4):c.2677C>T (p.Pro893Ser)
NM_004260.4(RECQL4):c.2685G>A (p.Arg895=) rs1259701902
NM_004260.4(RECQL4):c.2686G>A (p.Val896Ile)
NM_004260.4(RECQL4):c.2691C>T (p.Cys897=)
NM_004260.4(RECQL4):c.2693T>C (p.Met898Thr)
NM_004260.4(RECQL4):c.2699A>G (p.His900Arg)
NM_004260.4(RECQL4):c.2702A>G (p.Glu901Gly)
NM_004260.4(RECQL4):c.2746C>T (p.Pro916Ser)
NM_004260.4(RECQL4):c.2748G>A (p.Pro916=) rs370679924
NM_004260.4(RECQL4):c.2749G>A (p.Glu917Lys)
NM_004260.4(RECQL4):c.274_275delinsCT (p.Ser92Leu) rs587778649
NM_004260.4(RECQL4):c.2751G>A (p.Glu917=) rs768002459
NM_004260.4(RECQL4):c.2755+9C>A rs749496256
NM_004260.4(RECQL4):c.2756-10C>T rs748950139
NM_004260.4(RECQL4):c.2756-5C>G
NM_004260.4(RECQL4):c.2760C>T (p.Ile920=) rs752058642
NM_004260.4(RECQL4):c.2773T>G (p.Cys925Gly)
NM_004260.4(RECQL4):c.2780T>G (p.Leu927Arg)
NM_004260.4(RECQL4):c.2784G>C (p.Glu928Asp)
NM_004260.4(RECQL4):c.2789_2812del (p.His930_Leu937del)
NM_004260.4(RECQL4):c.2802G>A (p.Trp934Ter)
NM_004260.4(RECQL4):c.2809C>G (p.Leu937Val)
NM_004260.4(RECQL4):c.2822C>T (p.Thr941Ile)
NM_004260.4(RECQL4):c.2824T>C (p.Tyr942His)
NM_004260.4(RECQL4):c.2828C>T (p.Thr943Ile)
NM_004260.4(RECQL4):c.2831A>C (p.His944Pro)
NM_004260.4(RECQL4):c.2832T>C (p.His944=) rs754047453
NM_004260.4(RECQL4):c.2848C>T (p.Pro950Ser)
NM_004260.4(RECQL4):c.2859T>C (p.Pro953=) rs1586796827
NM_004260.4(RECQL4):c.2866C>T (p.Leu956Phe)
NM_004260.4(RECQL4):c.2879C>G (p.Ala960Gly)
NM_004260.4(RECQL4):c.2880C>T (p.Ala960=) rs766684128
NM_004260.4(RECQL4):c.2885+6C>T
NM_004260.4(RECQL4):c.2885+8C>A rs370547126
NM_004260.4(RECQL4):c.2886-8G>A
NM_004260.4(RECQL4):c.2889del (p.Pro965fs) rs1586795973
NM_004260.4(RECQL4):c.2890C>A (p.Pro964Thr)
NM_004260.4(RECQL4):c.2900C>G (p.Ala967Gly)
NM_004260.4(RECQL4):c.290G>A (p.Ser97Asn)
NM_004260.4(RECQL4):c.291C>A (p.Ser97Arg)
NM_004260.4(RECQL4):c.291C>T (p.Ser97=) rs762806249
NM_004260.4(RECQL4):c.2928G>C (p.Glu976Asp)
NM_004260.4(RECQL4):c.2929G>A (p.Asp977Asn)
NM_004260.4(RECQL4):c.2937G>A (p.Gly979=) rs1434652198
NM_004260.4(RECQL4):c.293G>C (p.Arg98Pro)
NM_004260.4(RECQL4):c.2941G>A (p.Gly981Ser)
NM_004260.4(RECQL4):c.2941_2942insTTCCAA (p.Gly981delinsValProSer)
NM_004260.4(RECQL4):c.2945G>C (p.Ser982Thr)
NM_004260.4(RECQL4):c.2953G>C (p.Val985Leu)
NM_004260.4(RECQL4):c.2980G>A (p.Asp994Asn)
NM_004260.4(RECQL4):c.2989G>A (p.Gly997Ser)
NM_004260.4(RECQL4):c.2998del (p.Leu1000fs)
NM_004260.4(RECQL4):c.2999T>C (p.Leu1000Pro)
NM_004260.4(RECQL4):c.299G>A (p.Gly100Asp)
NM_004260.4(RECQL4):c.3000G>A (p.Leu1000=) rs758339361
NM_004260.4(RECQL4):c.3021C>T (p.Leu1007=) rs1301549552
NM_004260.4(RECQL4):c.302C>T (p.Ser101Leu)
NM_004260.4(RECQL4):c.3040_3042del (p.His1014del)
NM_004260.4(RECQL4):c.305_310dup (p.Val102_Pro103dup)
NM_004260.4(RECQL4):c.3060G>A (p.Val1020=) rs768374433
NM_004260.4(RECQL4):c.3064C>T (p.Arg1022Cys)
NM_004260.4(RECQL4):c.3068G>C (p.Gly1023Ala)
NM_004260.4(RECQL4):c.3070A>C (p.Thr1024Pro)
NM_004260.4(RECQL4):c.3075G>A (p.Gly1025=) rs753381594
NM_004260.4(RECQL4):c.3076G>A (p.Val1026Met)
NM_004260.4(RECQL4):c.3076G>T (p.Val1026Leu)
NM_004260.4(RECQL4):c.3079C>T (p.Leu1027Phe)
NM_004260.4(RECQL4):c.3083T>C (p.Val1028Ala)
NM_004260.4(RECQL4):c.3089T>C (p.Phe1030Ser)
NM_004260.4(RECQL4):c.3090C>A (p.Phe1030Leu)
NM_004260.4(RECQL4):c.3094G>A (p.Glu1032Lys)
NM_004260.4(RECQL4):c.3106C>G (p.His1036Asp)
NM_004260.4(RECQL4):c.3119C>T (p.Pro1040Leu)
NM_004260.4(RECQL4):c.311A>C (p.Asp104Ala)
NM_004260.4(RECQL4):c.3124G>A (p.Asp1042Asn)
NM_004260.4(RECQL4):c.3136_3138GAG[1] (p.Glu1047del) rs747349932
NM_004260.4(RECQL4):c.3144G>A (p.Lys1048=) rs750905339
NM_004260.4(RECQL4):c.3154T>C (p.Cys1052Arg)
NM_004260.4(RECQL4):c.3159C>G (p.Asp1053Glu)
NM_004260.4(RECQL4):c.3165C>T (p.Leu1055=) rs760532630
NM_004260.4(RECQL4):c.3166T>C (p.Tyr1056His)
NM_004260.4(RECQL4):c.3167A>G (p.Tyr1056Cys)
NM_004260.4(RECQL4):c.3175G>A (p.Val1059Met)
NM_004260.4(RECQL4):c.317G>A (p.Gly106Glu)
NM_004260.4(RECQL4):c.3193C>T (p.Gln1065Ter)
NM_004260.4(RECQL4):c.3196G>A (p.Ala1066Thr)
NM_004260.4(RECQL4):c.3203C>A (p.Ala1068Asp)
NM_004260.4(RECQL4):c.3210G>T (p.Leu1070=) rs539631209
NM_004260.4(RECQL4):c.3214_3215insC (p.Arg1072fs)
NM_004260.4(RECQL4):c.3217A>C (p.Thr1073Pro)
NM_004260.4(RECQL4):c.3219C>G (p.Thr1073=) rs769367312
NM_004260.4(RECQL4):c.3228C>T (p.Ala1076=) rs1231644122
NM_004260.4(RECQL4):c.3237C>A (p.Ser1079Arg)
NM_004260.4(RECQL4):c.3237C>T (p.Ser1079=)
NM_004260.4(RECQL4):c.323G>A (p.Arg108Gln)
NM_004260.4(RECQL4):c.3240A>C (p.Val1080=) rs1313455164
NM_004260.4(RECQL4):c.3247C>A (p.Pro1083Thr)
NM_004260.4(RECQL4):c.3255C>G (p.Cys1085Trp)
NM_004260.4(RECQL4):c.3255C>T (p.Cys1085=) rs779365826
NM_004260.4(RECQL4):c.325C>T (p.Leu109Phe)
NM_004260.4(RECQL4):c.3271C>A (p.Gln1091Lys)
NM_004260.4(RECQL4):c.3282G>A (p.Glu1094=) rs752540498
NM_004260.4(RECQL4):c.3304G>T (p.Asp1102Tyr)
NM_004260.4(RECQL4):c.3306C>T (p.Asp1102=) rs1478564851
NM_004260.4(RECQL4):c.3308T>G (p.Leu1103Arg)
NM_004260.4(RECQL4):c.330G>A (p.Lys110=) rs193091206
NM_004260.4(RECQL4):c.3312C>A (p.Leu1104=) rs903928753
NM_004260.4(RECQL4):c.3312_3319del (p.Gly1105fs)
NM_004260.4(RECQL4):c.3318C>G (p.Arg1106=)
NM_004260.4(RECQL4):c.3320A>G (p.Tyr1107Cys)
NM_004260.4(RECQL4):c.3323T>C (p.Phe1108Ser)
NM_004260.4(RECQL4):c.3325G>A (p.Glu1109Lys)
NM_004260.4(RECQL4):c.3341A>G (p.Gln1114Arg)
NM_004260.4(RECQL4):c.3345G>A (p.Glu1115=) rs750008283
NM_004260.4(RECQL4):c.334A>C (p.Asn112His)
NM_004260.4(RECQL4):c.3352G>A (p.Gly1118Ser)
NM_004260.4(RECQL4):c.3353G>A (p.Gly1118Asp)
NM_004260.4(RECQL4):c.3360G>A (p.Glu1120=) rs770246912
NM_004260.4(RECQL4):c.3367C>G (p.Gln1123Glu)
NM_004260.4(RECQL4):c.3368A>C (p.Gln1123Pro)
NM_004260.4(RECQL4):c.3378G>T (p.Glu1126Asp)
NM_004260.4(RECQL4):c.3383G>A (p.Gly1128Glu)
NM_004260.4(RECQL4):c.3394-10G>A rs770697720
NM_004260.4(RECQL4):c.3394-1G>A
NM_004260.4(RECQL4):c.3418C>T (p.Arg1140Cys)
NM_004260.4(RECQL4):c.3423C>T (p.Cys1141=) rs370611564
NM_004260.4(RECQL4):c.3433C>T (p.Gln1145Ter)
NM_004260.4(RECQL4):c.3449G>T (p.Arg1150Met)
NM_004260.4(RECQL4):c.344G>T (p.Gly115Val)
NM_004260.4(RECQL4):c.3454_3456GAG[1] (p.Glu1153del) rs780986647
NM_004260.4(RECQL4):c.3456G>A (p.Glu1152=) rs756549605
NM_004260.4(RECQL4):c.3459G>C (p.Glu1153Asp)
NM_004260.4(RECQL4):c.3461A>G (p.Lys1154Arg)
NM_004260.4(RECQL4):c.3462G>C (p.Lys1154Asn)
NM_004260.4(RECQL4):c.3463T>C (p.Phe1155Leu)
NM_004260.4(RECQL4):c.3467C>G (p.Ser1156Cys)
NM_004260.4(RECQL4):c.3482C>T (p.Ala1161Val)
NM_004260.4(RECQL4):c.3484_3502+8del
NM_004260.4(RECQL4):c.348C>G (p.Thr116=) rs747642273
NM_004260.4(RECQL4):c.3497G>T (p.Gly1166Val)
NM_004260.4(RECQL4):c.3502+1G>T
NM_004260.4(RECQL4):c.3503-2A>T
NM_004260.4(RECQL4):c.3503-7_3509del
NM_004260.4(RECQL4):c.351G>A (p.Leu117=) rs373085511
NM_004260.4(RECQL4):c.3529T>A (p.Tyr1177Asn)
NM_004260.4(RECQL4):c.3533G>A (p.Gly1178Glu)
NM_004260.4(RECQL4):c.3536A>C (p.Gln1179Pro)
NM_004260.4(RECQL4):c.3545_3546delinsTT (p.Arg1182Leu)
NM_004260.4(RECQL4):c.355-1G>T
NM_004260.4(RECQL4):c.355-9C>A
NM_004260.4(RECQL4):c.3555A>G (p.Arg1185=) rs1586787396
NM_004260.4(RECQL4):c.3565C>T (p.His1189Tyr)
NM_004260.4(RECQL4):c.3576C>T (p.Phe1192=) rs1586787251
NM_004260.4(RECQL4):c.3583C>G (p.Leu1195Val)
NM_004260.4(RECQL4):c.3589G>T (p.Gly1197Cys)
NM_004260.4(RECQL4):c.3595G>A (p.Ala1199Thr)
NM_004260.4(RECQL4):c.3613C>T (p.Gln1205Ter)
NM_004260.4(RECQL4):c.3622C>G (p.Arg1208Gly)
NM_004260.4(RECQL4):c.3624C>T (p.Arg1208=) rs56341125
NM_004260.4(RECQL4):c.364G>T (p.Ala122Ser)
NM_004260.4(RECQL4):c.373C>T (p.Arg125Cys)
NM_004260.4(RECQL4):c.377G>A (p.Arg126Lys)
NM_004260.4(RECQL4):c.379C>G (p.Pro127Ala)
NM_004260.4(RECQL4):c.381G>A (p.Pro127=) rs529008787
NM_004260.4(RECQL4):c.384G>T (p.Trp128Cys)
NM_004260.4(RECQL4):c.391G>A (p.Gly131Arg)
NM_004260.4(RECQL4):c.397G>A (p.Ala133Thr)
NM_004260.4(RECQL4):c.39G>A (p.Ala13=) rs778012969
NM_004260.4(RECQL4):c.39G>T (p.Ala13=) rs778012969
NM_004260.4(RECQL4):c.3G>T (p.Met1Ile)
NM_004260.4(RECQL4):c.407A>C (p.Lys136Thr)
NM_004260.4(RECQL4):c.415A>C (p.Thr139Pro)
NM_004260.4(RECQL4):c.424C>G (p.Pro142Ala)
NM_004260.4(RECQL4):c.429A>G (p.Pro143=) rs763675505
NM_004260.4(RECQL4):c.435A>G (p.Thr145=)
NM_004260.4(RECQL4):c.436G>A (p.Gly146Arg)
NM_004260.4(RECQL4):c.455C>G (p.Ala152Gly)
NM_004260.4(RECQL4):c.458A>G (p.Glu153Gly)
NM_004260.4(RECQL4):c.472G>A (p.Glu158Lys)
NM_004260.4(RECQL4):c.474G>C (p.Glu158Asp)
NM_004260.4(RECQL4):c.476C>T (p.Pro159Leu)
NM_004260.4(RECQL4):c.479C>T (p.Pro160Leu)
NM_004260.4(RECQL4):c.490G>A (p.Glu164Lys)
NM_004260.4(RECQL4):c.495C>G (p.Pro165=) rs1361421482
NM_004260.4(RECQL4):c.497A>G (p.Gln166Arg)
NM_004260.4(RECQL4):c.50_51dup (p.Phe18fs)
NM_004260.4(RECQL4):c.512G>A (p.Arg171Gln)
NM_004260.4(RECQL4):c.520C>A (p.His174Asn)
NM_004260.4(RECQL4):c.533C>T (p.Ser178Phe)
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln)
NM_004260.4(RECQL4):c.536T>C (p.Leu179Pro)
NM_004260.4(RECQL4):c.539G>C (p.Ser180Thr)
NM_004260.4(RECQL4):c.539delinsCTCCCTAGCCCAGC (p.Ser180delinsThrProTer)
NM_004260.4(RECQL4):c.543G>C (p.Gln181His)
NM_004260.4(RECQL4):c.556C>G (p.Leu186Val)
NM_004260.4(RECQL4):c.560A>G (p.Asp187Gly)
NM_004260.4(RECQL4):c.562C>T (p.Pro188Ser)
NM_004260.4(RECQL4):c.567C>T (p.Gly189=)
NM_004260.4(RECQL4):c.589G>A (p.Glu197Lys)
NM_004260.4(RECQL4):c.592G>T (p.Val198Phe)
NM_004260.4(RECQL4):c.603T>G (p.Phe201Leu)
NM_004260.4(RECQL4):c.609G>A (p.Gly203=) rs781731943
NM_004260.4(RECQL4):c.610G>C (p.Ala204Pro)
NM_004260.4(RECQL4):c.611C>T (p.Ala204Val)
NM_004260.4(RECQL4):c.627G>A (p.Arg209=) rs1586825129
NM_004260.4(RECQL4):c.636A>G (p.Leu212=) rs541402387
NM_004260.4(RECQL4):c.642A>G (p.Ser214=) rs768486146
NM_004260.4(RECQL4):c.645G>A (p.Glu215=) rs550208182
NM_004260.4(RECQL4):c.653A>G (p.Gln218Arg)
NM_004260.4(RECQL4):c.674C>G (p.Ser225Trp)
NM_004260.4(RECQL4):c.677C>G (p.Ala226Gly)
NM_004260.4(RECQL4):c.677C>T (p.Ala226Val)
NM_004260.4(RECQL4):c.686del (p.Gly229fs) rs1586824650
NM_004260.4(RECQL4):c.68G>T (p.Gly23Val)
NM_004260.4(RECQL4):c.702C>T (p.Ser234=) rs907039783
NM_004260.4(RECQL4):c.707G>A (p.Gly236Asp)
NM_004260.4(RECQL4):c.709C>T (p.Pro237Ser)
NM_004260.4(RECQL4):c.714G>A (p.Glu238=) rs1197708179
NM_004260.4(RECQL4):c.71G>A (p.Arg24Gln)
NM_004260.4(RECQL4):c.722C>T (p.Ala241Val)
NM_004260.4(RECQL4):c.726C>A (p.Phe242Leu)
NM_004260.4(RECQL4):c.728AAG[1] (p.Glu244del)
NM_004260.4(RECQL4):c.730G>A (p.Glu244Lys)
NM_004260.4(RECQL4):c.731A>G (p.Glu244Gly)
NM_004260.4(RECQL4):c.734T>G (p.Val245Gly)
NM_004260.4(RECQL4):c.748G>A (p.Gly250Arg)
NM_004260.4(RECQL4):c.752G>T (p.Ser251Ile)
NM_004260.4(RECQL4):c.754C>T (p.Pro252Ser)
NM_004260.4(RECQL4):c.768C>A (p.Ser256Arg)
NM_004260.4(RECQL4):c.777C>T (p.Gly259=)
NM_004260.4(RECQL4):c.77C>G (p.Pro26Arg)
NM_004260.4(RECQL4):c.780G>C (p.Glu260Asp)
NM_004260.4(RECQL4):c.781A>G (p.Lys261Glu)
NM_004260.4(RECQL4):c.789A>G (p.Arg263=) rs1430320264
NM_004260.4(RECQL4):c.80G>A (p.Ser27Asn)
NM_004260.4(RECQL4):c.818C>T (p.Ala273Val)
NM_004260.4(RECQL4):c.821A>G (p.Gln274Arg)
NM_004260.4(RECQL4):c.825C>A (p.Val275=)
NM_004260.4(RECQL4):c.837C>G (p.Ser279Arg)
NM_004260.4(RECQL4):c.84+1G>A
NM_004260.4(RECQL4):c.840C>T (p.Ser280=) rs1407076588
NM_004260.4(RECQL4):c.848G>T (p.Gly283Val)
NM_004260.4(RECQL4):c.84G>C (p.Gln28His)
NM_004260.4(RECQL4):c.85-5T>G
NM_004260.4(RECQL4):c.854del (p.Pro285fs)
NM_004260.4(RECQL4):c.857C>T (p.Ser286Leu)
NM_004260.4(RECQL4):c.868G>A (p.Gly290Arg)
NM_004260.4(RECQL4):c.871G>A (p.Ala291Thr)
NM_004260.4(RECQL4):c.886G>A (p.Glu296Lys)
NM_004260.4(RECQL4):c.895C>T (p.Pro299Ser)
NM_004260.4(RECQL4):c.896C>T (p.Pro299Leu)
NM_004260.4(RECQL4):c.898G>A (p.Gly300Arg)
NM_004260.4(RECQL4):c.898G>T (p.Gly300Trp)
NM_004260.4(RECQL4):c.899G>A (p.Gly300Glu)
NM_004260.4(RECQL4):c.904C>T (p.Pro302Ser)
NM_004260.4(RECQL4):c.909A>G (p.Val303=) rs377295171
NM_004260.4(RECQL4):c.914C>T (p.Ala305Val)
NM_004260.4(RECQL4):c.927G>T (p.Gln309His)
NM_004260.4(RECQL4):c.941C>T (p.Pro314Leu)
NM_004260.4(RECQL4):c.953G>A (p.Arg318Lys)
NM_004260.4(RECQL4):c.953G>C (p.Arg318Thr)
NM_004260.4(RECQL4):c.956A>G (p.Tyr319Cys)
NM_004260.4(RECQL4):c.977G>T (p.Ser326Ile)

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