ClinVar Miner

List of variants in gene ATRX reported as uncertain significance for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 583
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=) rs782781621 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser) rs886044864 0.00004
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=) rs781987630 0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val) rs782470087 0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu) rs1332447363 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp) rs915523218 0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu) rs782128117 0.00001
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly) rs2071414010 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr) rs1041529012 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser) rs782715901 0.00001
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr) rs1557140828 0.00001
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val) rs1557140749 0.00001
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val) rs1198114357 0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492 0.00001
NM_000489.6(ATRX):c.2057A>G (p.Lys686Arg) rs1557140371 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2102G>A (p.Arg701His) rs797044563 0.00001
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys) rs918710917 0.00001
NM_000489.6(ATRX):c.224G>T (p.Gly75Val) rs782198677 0.00001
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2389T>C (p.Ser797Pro) rs782418110 0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572 0.00001
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala) rs2071278709 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp) rs1337990307 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr) rs2071226540 0.00001
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr) rs782073135 0.00001
NM_000489.6(ATRX):c.3455G>T (p.Gly1152Val) rs782023982 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr) rs374291079 0.00001
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg) rs1057524797 0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe) rs782619383 0.00001
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly) rs987127830 0.00001
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys) rs1557125110 0.00001
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val) rs1557124086 0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala) rs781912326 0.00001
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu) rs147331649 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.4956+3A>G rs1434725771 0.00001
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr) rs2068194249 0.00001
NM_000489.6(ATRX):c.5448+4C>T rs1557098428 0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=) rs1557096973 0.00001
NM_000489.6(ATRX):c.5786+5A>G rs782475014 0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu) rs782773652 0.00001
NM_000489.6(ATRX):c.5965A>G (p.Thr1989Ala) rs1438449392 0.00001
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg) rs1440854109 0.00001
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val) rs1210447127 0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215 0.00001
NM_000489.6(ATRX):c.815C>G (p.Pro272Arg) rs782487127 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.931C>T (p.His311Tyr) rs2071433222 0.00001
NC_000023.10:g.(?_76759357)_(77042755_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76763809)_(77041507_?)dup
NC_000023.10:g.(?_76763829)_(76972740_?)dup
NC_000023.10:g.(?_76829695)_(77041507_?)dup
NC_000023.10:g.(?_77041448)_(77041487_?)dup
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
NM_000489.6(ATRX):c.1028A>C (p.Tyr343Ser)
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val) rs2071426013
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914
NM_000489.6(ATRX):c.1054A>T (p.Met352Leu)
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val) rs2071424254
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val) rs2071423786
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
NM_000489.6(ATRX):c.1103C>G (p.Ser368Cys)
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val) rs2148629471
NM_000489.6(ATRX):c.1150A>G (p.Ser384Gly)
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr) rs2071417426
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro) rs367986587
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
NM_000489.6(ATRX):c.1174C>T (p.Leu392Phe)
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr) rs2148627971
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1279A>C (p.Lys427Gln)
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val) rs2071404188
NM_000489.6(ATRX):c.134A>T (p.Asp45Val) rs1557151500
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
NM_000489.6(ATRX):c.1366G>C (p.Asp456His)
NM_000489.6(ATRX):c.1403A>C (p.Gln468Pro)
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
NM_000489.6(ATRX):c.1459A>G (p.Lys487Glu)
NM_000489.6(ATRX):c.1466C>T (p.Thr489Ile)
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys) rs2071391273
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
NM_000489.6(ATRX):c.1498G>A (p.Glu500Lys)
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1509A>T (p.Gln503His) rs1039587651
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
NM_000489.6(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
NM_000489.6(ATRX):c.1525A>G (p.Thr509Ala)
NM_000489.6(ATRX):c.1556C>G (p.Ser519Cys)
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr) rs2072320573
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
NM_000489.6(ATRX):c.1640A>G (p.Asp547Gly)
NM_000489.6(ATRX):c.1655C>A (p.Thr552Asn)
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser) rs2071378519
NM_000489.6(ATRX):c.1658A>T (p.Glu553Val)
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
NM_000489.6(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser) rs1557140924
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
NM_000489.6(ATRX):c.1722T>G (p.Ile574Met) rs2071372568
NM_000489.6(ATRX):c.1744G>T (p.Val582Leu)
NM_000489.6(ATRX):c.1750A>G (p.Lys584Glu)
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
NM_000489.6(ATRX):c.1772C>A (p.Thr591Asn)
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.6(ATRX):c.182A>G (p.Lys61Arg)
NM_000489.6(ATRX):c.1831G>C (p.Asp611His)
NM_000489.6(ATRX):c.1842C>T (p.Gly614=) rs2071364653
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
NM_000489.6(ATRX):c.189+5G>A rs2072317981
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del) rs2071359110
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly) rs2071360128
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000489.6(ATRX):c.1918G>A (p.Val640Ile)
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
NM_000489.6(ATRX):c.1955A>T (p.Asp652Val) rs2071357500
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
NM_000489.6(ATRX):c.1973G>A (p.Arg658His) rs2148610304
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile) rs2148610218
NM_000489.6(ATRX):c.1999C>T (p.Pro667Ser)
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
NM_000489.6(ATRX):c.2044A>G (p.Asn682Asp)
NM_000489.6(ATRX):c.2059G>C (p.Glu687Gln)
NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
NM_000489.6(ATRX):c.2134A>G (p.Lys712Glu) rs2071344958
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn) rs2071344638
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
NM_000489.6(ATRX):c.2168A>T (p.Glu723Val)
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu) rs2071341824
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro) rs2071340254
NM_000489.6(ATRX):c.2200A>G (p.Met734Val) rs2071339556
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln) rs782341193
NM_000489.6(ATRX):c.2220G>C (p.Glu740Asp)
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
NM_000489.6(ATRX):c.2279A>G (p.Asn760Ser)
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys) rs2148602163
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His) rs2071326352
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.6(ATRX):c.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.2326A>C (p.Lys776Gln)
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile) rs781957333
NM_000489.6(ATRX):c.2353A>G (p.Thr785Ala)
NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
NM_000489.6(ATRX):c.2383G>A (p.Gly795Ser)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln) rs2071304603
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp) rs2148752831
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.6(ATRX):c.2510C>T (p.Thr837Ile)
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
NM_000489.6(ATRX):c.2556T>A (p.Asp852Glu)
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val) rs2148593605
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe) rs781808505
NM_000489.6(ATRX):c.2621G>C (p.Gly874Ala) rs782339652
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys) rs868926015
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly) rs2071282891
NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys) rs782757975
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu) rs2071271385
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr) rs2148588122
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val) rs2071267970
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del) rs1338172022
NM_000489.6(ATRX):c.2837G>C (p.Ser946Thr)
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg) rs2071266406
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del) rs782077612
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala) rs2148587031
NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro) rs2148586632
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro) rs2071260958
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg) rs2148585851
NM_000489.6(ATRX):c.2919G>C (p.Gln973His)
NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly) rs2071258052
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu) rs2071255335
NM_000489.6(ATRX):c.2957A>G (p.Lys986Arg)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg) rs2071254827
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys) rs782574426
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu) rs2148584437
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln) rs2148583946
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met) rs2148582142
NM_000489.6(ATRX):c.3092G>A (p.Gly1031Asp) rs782088552
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
NM_000489.6(ATRX):c.3151G>C (p.Asp1051His)
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met) rs2071238285
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu) rs2071236443
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
NM_000489.6(ATRX):c.3236A>T (p.Asp1079Val)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
NM_000489.6(ATRX):c.3276A>C (p.Lys1092Asn)
NM_000489.6(ATRX):c.3289C>T (p.Leu1097Phe)
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
NM_000489.6(ATRX):c.3318T>A (p.Asp1106Glu) rs2148576296
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly) rs2148574004
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_000489.6(ATRX):c.3433A>C (p.Asn1145His) rs2148573453
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln) rs2148573185
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg) rs2148573004
NM_000489.6(ATRX):c.3467C>T (p.Ser1156Phe)
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp) rs2071212651
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.6(ATRX):c.3506A>C (p.Lys1169Thr)
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile) rs2148569833
NM_000489.6(ATRX):c.3607T>C (p.Ser1203Pro)
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del) rs782162142
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser) rs144527582
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys) rs2148568110
NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)
NM_000489.6(ATRX):c.3676del (p.Ile1226fs) rs2148567280
NM_000489.6(ATRX):c.370+5T>C rs1557149836
NM_000489.6(ATRX):c.371-4C>G rs1603240656
NM_000489.6(ATRX):c.3736+5G>A
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly) rs2148542963
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met) rs2070142302
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
NM_000489.6(ATRX):c.3917A>G (p.Gln1306Arg)
NM_000489.6(ATRX):c.3924A>T (p.Glu1308Asp) rs2070136349
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
NM_000489.6(ATRX):c.3956A>G (p.Gln1319Arg)
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
NM_000489.6(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe) rs2070041722
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val) rs2148487205
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
NM_000489.6(ATRX):c.4121-3A>G
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
NM_000489.6(ATRX):c.4183G>A (p.Glu1395Lys)
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu) rs2069567164
NM_000489.6(ATRX):c.4201C>G (p.Arg1401Gly)
NM_000489.6(ATRX):c.4214+4T>G rs2148460567
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
NM_000489.6(ATRX):c.4216T>C (p.Ser1406Pro)
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala) rs2148451827
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
NM_000489.6(ATRX):c.4228G>A (p.Ala1410Thr)
NM_000489.6(ATRX):c.4231G>A (p.Glu1411Lys)
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.6(ATRX):c.4277G>A (p.Arg1426Gln) rs1557118717
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.6(ATRX):c.4350AGAGGAGGAGGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del) rs782794214
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[3] (p.Glu1464_Asp1465insGluGluGluGluGluGlu)
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup) rs2069287154
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del) rs1312591978
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
NM_000489.6(ATRX):c.4399A>T (p.Asn1467Tyr)
NM_000489.6(ATRX):c.4407T>A (p.Asp1469Glu)
NM_000489.6(ATRX):c.4457A>T (p.Asp1486Val)
NM_000489.6(ATRX):c.4460A>G (p.Asp1487Gly)
NM_000489.6(ATRX):c.4471A>G (p.Thr1491Ala)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly) rs2072040574
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn) rs2148360161
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4642C>G (p.Pro1548Ala)
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly) rs2068328911
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys) rs2148358518
NM_000489.6(ATRX):c.4699+3A>G
NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)
NM_000489.6(ATRX):c.479G>A (p.Arg160His) rs2072039122
NM_000489.6(ATRX):c.4838T>C (p.Leu1613Ser) rs2148343760
NM_000489.6(ATRX):c.485-7C>A rs1225852818
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
NM_000489.6(ATRX):c.4853A>G (p.Asp1618Gly)
NM_000489.6(ATRX):c.4861A>G (p.Thr1621Ala)
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.6(ATRX):c.489T>A (p.Asp163Glu)
NM_000489.6(ATRX):c.4903A>T (p.Met1635Leu)
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
NM_000489.6(ATRX):c.4943A>G (p.Asp1648Gly)
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
NM_000489.6(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=) rs2148335082
NM_000489.6(ATRX):c.5134+6G>C
NM_000489.6(ATRX):c.5137C>T (p.Pro1713Ser) rs2148272498
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.525A>G (p.Gly175=)
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr) rs2067530352
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5295C>T (p.Ile1765=)
NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.5393G>T (p.Arg1798Ile)
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys) rs2148258208
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val) rs2067467967
NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala) rs2148245541
NM_000489.6(ATRX):c.546A>T (p.Gln182His) rs375794120
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
NM_000489.6(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.6(ATRX):c.5565A>C (p.Thr1855=)
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.6(ATRX):c.5567G>A (p.Gly1856Asp)
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.6(ATRX):c.5579A>C (p.Asn1860Thr)
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly) rs2066634036
NM_000489.6(ATRX):c.5683A>G (p.Ser1895Gly) rs2066633572
NM_000489.6(ATRX):c.5695A>C (p.Lys1899Gln)
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly) rs2066607432
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val) rs2066607060
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp) rs2066606140
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
NM_000489.6(ATRX):c.5786+3_5786+4insT
NM_000489.6(ATRX):c.5803A>G (p.Lys1935Glu) rs2148145177
NM_000489.6(ATRX):c.5825G>A (p.Ser1942Asn) rs2148144524
NM_000489.6(ATRX):c.5870T>C (p.Val1957Ala)
NM_000489.6(ATRX):c.5888G>A (p.Arg1963Gln)
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
NM_000489.6(ATRX):c.5923A>G (p.Asn1975Asp)
NM_000489.6(ATRX):c.5942T>C (p.Leu1981Ser)
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly) rs2148140220
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn) rs2066370578
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val) rs2148115836
NM_000489.6(ATRX):c.6097A>G (p.Ile2033Val) rs1057521636
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) rs2066171841
NM_000489.6(ATRX):c.6199A>C (p.Lys2067Gln)
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
NM_000489.6(ATRX):c.6208A>G (p.Ile2070Val)
NM_000489.6(ATRX):c.6227A>C (p.Lys2076Thr)
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
NM_000489.6(ATRX):c.6256T>A (p.Leu2086Ile)
NM_000489.6(ATRX):c.6313G>A (p.Glu2105Lys)
NM_000489.6(ATRX):c.6326+3A>G
NM_000489.6(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
NM_000489.6(ATRX):c.6458G>A (p.Arg2153His)
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg) rs2147947274
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn) rs2071472042
NM_000489.6(ATRX):c.6504+3A>G
NM_000489.6(ATRX):c.6504+5_6504+14del rs2064891953
NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala)
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
NM_000489.6(ATRX):c.661A>C (p.Arg221=)
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu) rs2147941386
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg) rs2064848419
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
NM_000489.6(ATRX):c.6706A>T (p.Ile2236Leu)
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.6(ATRX):c.6849+5T>C
NM_000489.6(ATRX):c.6850-5T>G
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr) rs2063256154
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn) rs2147748165
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp) rs2147748088
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
NM_000489.6(ATRX):c.6975+6T>C
NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr) rs1339589345
NM_000489.6(ATRX):c.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7117G>T (p.Ala2373Ser)
NM_000489.6(ATRX):c.711T>G (p.Asn237Lys)
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
NM_000489.6(ATRX):c.7200+10C>G rs781824017
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del) rs2147651554
NM_000489.6(ATRX):c.7268A>C (p.Gln2423Pro)
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile) rs2062761742
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr) rs2147648215
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer) rs2147645829
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
NM_000489.6(ATRX):c.796T>C (p.Tyr266His) rs2071441898
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
NM_000489.6(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.6(ATRX):c.841A>G (p.Asn281Asp)
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
NM_000489.6(ATRX):c.884AGA[2] (p.Lys297del) rs1064795918
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro) rs2071431525
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser) rs2148633005
NM_000489.6(ATRX):c.995A>G (p.Asp332Gly)

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