ClinVar Miner

List of variants studied for acquired aplastic anemia

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 903
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_198253.3(TERT):c.*99C>T rs2853690 0.20149
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_198253.3(TERT):c.1573+39G>C rs79662648 0.02633
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02258
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_198253.3(TERT):c.3324G>A (p.Pro1108=) rs35033501 0.01868
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NR_001566.3(TERC):n.58G>A rs113487931 0.01733
NM_000619.3(IFNG):c.*180C>T rs2069722 0.01606
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000619.3(IFNG):c.*539A>G rs2069723 0.01255
NM_198253.3(TERT):c.*63C>T rs5031049 0.01135
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_198253.3(TERT):c.*153C>T rs114012142 0.00547
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NR_001566.3(TERC):n.228G>A rs141686314 0.00478
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_198253.3(TERT):c.1812A>G (p.Ala604=) rs33959226 0.00255
NM_001083116.3(PRF1):c.10C>T (p.Arg4Cys) rs12161733 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_198253.3(TERT):c.534C>T (p.Leu178=) rs370420108 0.00124
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00100
NM_198253.3(TERT):c.572G>C (p.Ser191Thr) rs11952056 0.00100
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_000619.3(IFNG):c.183+15C>G rs199708992 0.00081
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_001083116.3(PRF1):c.1229G>A (p.Arg410Gln) rs150558419 0.00077
NM_000619.3(IFNG):c.114+11C>T rs200610212 0.00070
NM_000619.3(IFNG):c.-5A>G rs181407537 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_198253.3(TERT):c.2130+10G>A rs373879259 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_198253.3(TERT):c.219+7C>T rs573817924 0.00034
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_198253.3(TERT):c.3333G>A (p.Thr1111=) rs200102606 0.00030
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln) rs140787739 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_198253.3(TERT):c.*237C>T rs567092780 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198253.3(TERT):c.*83G>A rs533940688 0.00022
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_198253.3(TERT):c.2391C>G (p.Ser797=) rs377216965 0.00020
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_000619.3(IFNG):c.*500C>T rs528060683 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_198253.3(TERT):c.645C>T (p.Gly215=) rs768426236 0.00014
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_198253.3(TERT):c.2079C>T (p.Phe693=) rs371759577 0.00011
NM_198253.3(TERT):c.2573G>A (p.Arg858Gln) rs144779807 0.00011
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_000619.3(IFNG):c.285C>T (p.Thr95=) rs142375196 0.00009
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys) rs201468340 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_015937.6(PIGT):c.634C>T (p.His212Tyr) rs574183358 0.00009
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_198253.3(TERT):c.2127C>G (p.Val709=) rs765264494 0.00008
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002485.5(NBN):c.227C>A (p.Thr76Asn) rs587781412 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_001083116.3(PRF1):c.1636C>G (p.Pro546Ala) rs550799905 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_016038.4(SBDS):c.664G>C (p.Glu222Gln) rs371133001 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2654+10G>A rs375473823 0.00006
NM_001083116.3(PRF1):c.796A>G (p.Ile266Val) rs200824018 0.00005
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe) rs572568222 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_000619.3(IFNG):c.*465A>T rs532081510 0.00004
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp) rs139322149 0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs) rs1564723449 0.00004
NM_001083116.3(PRF1):c.65C>T (p.Pro22Leu) rs528937278 0.00004
NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys) rs754850577 0.00004
NM_001083116.3(PRF1):c.97C>T (p.Arg33Cys) rs777782785 0.00004
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys) rs544909538 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.595C>T (p.Pro199Ser) rs587780097 0.00004
NM_002485.5(NBN):c.633T>A (p.Asp211Glu) rs377700348 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.721G>A (p.Ala241Thr) rs587781333 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_016038.4(SBDS):c.719A>G (p.Lys240Arg) rs377761960 0.00004
NM_198253.3(TERT):c.*230T>C rs751808151 0.00004
NM_198253.3(TERT):c.1760T>C (p.Ile587Thr) rs148882731 0.00004
NM_198253.3(TERT):c.1949G>A (p.Arg650Lys) rs190125817 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) rs755183437 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_198253.3(TERT):c.2946T>C (p.Cys982=) rs201689770 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter) rs104894176 0.00003
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890 0.00003
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn) rs779399414 0.00003
NM_001083116.3(PRF1):c.98G>A (p.Arg33His) rs531407289 0.00003
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr) rs186371605 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002485.5(NBN):c.302T>C (p.Val101Ala) rs185493105 0.00003
NM_002485.5(NBN):c.335C>T (p.Pro112Leu) rs759723870 0.00003
NM_002485.5(NBN):c.509C>T (p.Pro170Leu) rs587782411 0.00003
NM_002485.5(NBN):c.613A>G (p.Ile205Val) rs730881845 0.00003
NM_002485.5(NBN):c.80G>T (p.Gly27Val) rs755171159 0.00003
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_002485.5(NBN):c.935T>C (p.Leu312Ser) rs371480039 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs) rs1291157023 0.00003
NM_015937.6(PIGT):c.949A>G (p.Ile317Val) rs773624614 0.00003
NM_198253.3(TERT):c.*104C>T rs886059830 0.00003
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) rs777343359 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.2012G>A (p.Arg671Gln) rs774381540 0.00003
NM_198253.3(TERT):c.2190C>T (p.Ala730=) rs138128892 0.00003
NM_198253.3(TERT):c.834C>A (p.Pro278=) rs375423906 0.00003
NM_198253.3(TERT):c.859G>A (p.Gly287Ser) rs746095609 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742 0.00002
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile) rs758728749 0.00002
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys) rs758110629 0.00002
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr) rs104894182 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001083116.3(PRF1):c.921del (p.His308fs) rs777345151 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.133C>G (p.His45Asp) rs773865323 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu) rs587780090 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln) rs753270166 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.929T>C (p.Ile310Thr) rs753812768 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002641.4(PIGA):c.849-19C>T rs780237513 0.00002
NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) rs765476509 0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016222.4(DDX41):c.253G>T (p.Val85Phe) rs773991873 0.00002
NM_198253.3(TERT):c.*64G>A rs1327773385 0.00002
NM_198253.3(TERT):c.1130G>A (p.Arg377His) rs756954938 0.00002
NM_198253.3(TERT):c.2744G>A (p.Gly915Asp) rs202033269 0.00002
NM_198253.3(TERT):c.2886C>T (p.Arg962=) rs542440625 0.00002
NC_000003.12:g.169764611C>T rs199422287 0.00001
NM_000619.3(IFNG):c.*231T>C rs1413472447 0.00001
NM_000619.3(IFNG):c.-34T>G rs752463155 0.00001
NM_000619.3(IFNG):c.431C>T (p.Ser144Leu) rs753611452 0.00001
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp) rs746365230 0.00001
NM_001083116.3(PRF1):c.1081A>T (p.Arg361Trp) rs752858869 0.00001
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs) rs771552960 0.00001
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg) rs957245579 0.00001
NM_001083116.3(PRF1):c.1267C>T (p.Gln423Ter) rs768953378 0.00001
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376 0.00001
NM_001083116.3(PRF1):c.133G>A (p.Gly45Arg) rs578092914 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn) rs1324261340 0.00001
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr) rs776657932 0.00001
NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser) rs776571416 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.757G>A (p.Glu253Lys) rs771076819 0.00001
NM_001083116.3(PRF1):c.83G>A (p.Arg28His) rs1230053761 0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys) rs902124045 0.00001
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser) rs763002067 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.1034G>T (p.Gly345Val) rs587780089 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.119C>T (p.Ser40Leu) rs587781530 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1248G>T (p.Met416Ile) rs756572268 0.00001
NM_002485.5(NBN):c.135T>A (p.His45Gln) rs770618624 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser) rs730881851 0.00001
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly) rs878854505 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys) rs776900339 0.00001
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys) rs587781557 0.00001
NM_002485.5(NBN):c.1580A>T (p.Asp527Val) rs1554558407 0.00001
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys) rs1586053587 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser) rs1586053003 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly) rs587782155 0.00001
NM_002485.5(NBN):c.2071G>A (p.Val691Ile) rs772059959 0.00001
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg) rs1367898317 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg) rs878854510 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.350C>T (p.Ser117Phe) rs1060503468 0.00001
NM_002485.5(NBN):c.361G>C (p.Asp121His) rs777916019 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002485.5(NBN):c.490G>T (p.Ala164Ser) rs786201252 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.703C>T (p.His235Tyr) rs1554564044 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.826A>T (p.Thr276Ser) rs1554563895 0.00001
NM_002485.5(NBN):c.827C>G (p.Thr276Arg) rs864622304 0.00001
NM_002485.5(NBN):c.83G>A (p.Arg28Lys) rs876658581 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_005373.3(MPL):c.1169G>A (p.Arg390His) rs1298113648 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) rs121913615 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) rs755447085 0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) rs1196161699 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_016038.4(SBDS):c.13del (p.Thr5fs) rs772797192 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_198253.3(TERT):c.*339T>C rs920370048 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.1939A>C (p.Arg647=) rs144821759 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198253.3(TERT):c.2105C>T (p.Pro702Leu) rs754809046 0.00001
NM_198253.3(TERT):c.2312C>T (p.Pro771Leu) rs1309399887 0.00001
NM_198253.3(TERT):c.2321G>A (p.Arg774Gln) rs1579564912 0.00001
NM_198253.3(TERT):c.2419G>A (p.Asp807Asn) rs1169312254 0.00001
NM_198253.3(TERT):c.2452G>A (p.Val818Met) rs1046621943 0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His) rs121918666 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
NM_198253.3(TERT):c.2702G>A (p.Arg901Gln) rs772974254 0.00001
NM_198253.3(TERT):c.2781A>G (p.Leu927=) rs370292237 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.3303G>A (p.Thr1101=) rs551516320 0.00001
NM_198253.3(TERT):c.375C>T (p.Asn125=) rs1751256209 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_198253.3(TERT):c.895G>A (p.Val299Met) rs756624928 0.00001
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NR_001566.3(TERC):n.36C>T rs1248582778 0.00001
NC_000003.12:g.169765160G>C rs199422256
NC_000014.9:g.95696766_96390792dup
NM_000619.3(IFNG):c.*107A>G rs886049800
NM_000619.3(IFNG):c.*187T>G rs1213374453
NM_000619.3(IFNG):c.*22T>A rs1882583669
NM_000619.3(IFNG):c.*93TCAA[1] rs137854903
NM_000619.3(IFNG):c.*9C>T rs886049801
NM_000619.3(IFNG):c.-2C>A rs886049802
NM_000619.3(IFNG):c.-9T>C rs886049803
NM_000619.3(IFNG):c.431C>A (p.Ser144Ter) rs753611452
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
NM_001083116.3(PRF1):c.1130G>A (p.Cys377Tyr)
NM_001083116.3(PRF1):c.1163G>T (p.Ser388Ile) rs193302875
NM_001083116.3(PRF1):c.1168C>T (p.Arg390Ter) rs760379846
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs) rs1361687182
NM_001083116.3(PRF1):c.1213C>T (p.Gln405Ter)
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
NM_001083116.3(PRF1):c.1246C>T (p.Gln416Ter) rs193302876
NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
NM_001083116.3(PRF1):c.1288G>T (p.Asp430Tyr)
NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp) rs754711256
NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)
NM_001083116.3(PRF1):c.1422del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1428del (p.Pro477_Leu478insTer)
NM_001083116.3(PRF1):c.1451del (p.Asp484fs)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu) rs761310644
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.150del (p.Thr51fs)
NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)
NM_001083116.3(PRF1):c.1573dup (p.Cys525fs)
NM_001083116.3(PRF1):c.185_195del (p.Asp62fs) rs774071705
NM_001083116.3(PRF1):c.190C>T (p.Gln64Ter) rs104894180
NM_001083116.3(PRF1):c.207del (p.Asp70fs) rs786205093
NM_001083116.3(PRF1):c.208G>T (p.Asp70Tyr)
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
NM_001083116.3(PRF1):c.242del (p.Gln81fs)
NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)
NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)
NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)
NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)
NM_001083116.3(PRF1):c.442G>A (p.Ala148Thr) rs1208723557
NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)
NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
NM_001083116.3(PRF1):c.539+2T>A
NM_001083116.3(PRF1):c.539+2T>G
NM_001083116.3(PRF1):c.563dup (p.Leu189fs) rs1454231642
NM_001083116.3(PRF1):c.568C>T (p.His190Tyr)
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
NM_001083116.3(PRF1):c.657C>A (p.Tyr219Ter)
NM_001083116.3(PRF1):c.658G>C (p.Gly220Arg) rs776571416
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys)
NM_001083116.3(PRF1):c.726C>A (p.Cys242Ter)
NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del) rs745902829
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter) rs1259291325
NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu) rs199422317
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu) rs1810856747
NM_002485.5(NBN):c.1029del (p.Gln344fs)
NM_002485.5(NBN):c.1029dup (p.Gln344fs) rs1563539146
NM_002485.5(NBN):c.1052A>C (p.Lys351Thr)
NM_002485.5(NBN):c.1053del (p.Lys351fs)
NM_002485.5(NBN):c.105T>G (p.Ile35Met) rs78870221
NM_002485.5(NBN):c.105_135del (p.Ile35fs) rs730881840
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser) rs1064794336
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu) rs1354459986
NM_002485.5(NBN):c.1073_1111delinsATACATGGTA (p.Val358_Gln371delinsAspThrTrpTer)
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.109_110delinsC (p.Asn37fs)
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter) rs2129744741
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile) rs1174990974
NM_002485.5(NBN):c.1125-2A>G rs1554559373
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr)
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1146del (p.Glu383fs) rs1586059584
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter) rs772909239
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs) rs748513310
NM_002485.5(NBN):c.115C>A (p.Gln39Lys) rs377730553
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter) rs2129721628
NM_002485.5(NBN):c.1194A>C (p.Gln398His) rs200046373
NM_002485.5(NBN):c.11T>C (p.Leu4Pro) rs748090667
NM_002485.5(NBN):c.11T>G (p.Leu4Arg) rs748090667
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys) rs1810666621
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
NM_002485.5(NBN):c.1225del (p.Thr409fs) rs2129720423
NM_002485.5(NBN):c.1225dup (p.Thr409fs)
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer) rs2129720196
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr) rs1554559171
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp) rs786202302
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1295C>G (p.Ser432Ter)
NM_002485.5(NBN):c.1298del (p.Pro433fs)
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile) rs757452107
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter) rs1554559094
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg) rs1554559068
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser) rs876659312
NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu) rs1397458119
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
NM_002485.5(NBN):c.1388_1389delinsT (p.Thr463fs)
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1G>A
NM_002485.5(NBN):c.1397+1_1397+9delinsACA rs876659666
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1397+1dup
NM_002485.5(NBN):c.1397+2T>A rs730881850
NM_002485.5(NBN):c.1398-1G>A
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu) rs755805461
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1423A>C (p.Met475Leu) rs767106269
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro) rs1586054780
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser) rs1199013619
NM_002485.5(NBN):c.1442C>T (p.Ala481Val)
NM_002485.5(NBN):c.1456T>A (p.Ser486Thr)
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr) rs587782118
NM_002485.5(NBN):c.1461T>G (p.Cys487Trp)
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro) rs1554558483
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter) rs772411713
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser) rs1563526901
NM_002485.5(NBN):c.14_23del (p.Leu5fs) rs2129938178
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.1518del (p.Gln506fs)
NM_002485.5(NBN):c.1520A>G (p.His507Arg) rs587782520
NM_002485.5(NBN):c.1523dup (p.Ser509fs) rs1586054199
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs) rs1554558449
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer) rs1563526747
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys) rs1554558445
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.1594G>T (p.Val532Leu) rs545435120
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly) rs876658501
NM_002485.5(NBN):c.1622C>T (p.Ala541Val) rs876658501
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu) rs1810540992
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn) rs1554558368
NM_002485.5(NBN):c.1651del (p.Arg551fs)
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln) rs1064793213
NM_002485.5(NBN):c.1654dup (p.Glu552fs) rs760237820
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.1675_1682del (p.Glu559fs)
NM_002485.5(NBN):c.1687T>A (p.Leu563Met) rs1466493008
NM_002485.5(NBN):c.16C>T (p.Pro6Ser) rs730881859
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)
NM_002485.5(NBN):c.171+1G>A rs931715719
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu) rs1554558303
NM_002485.5(NBN):c.172-1G>T rs1391598284
NM_002485.5(NBN):c.172-1del
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.1771A>C (p.Lys591Gln) rs1554558249
NM_002485.5(NBN):c.1783A>G (p.Met595Val) rs2129696684
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs) rs1586052851
NM_002485.5(NBN):c.179C>A (p.Thr60Lys) rs1586109164
NM_002485.5(NBN):c.17C>T (p.Pro6Leu) rs876658432
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1826del (p.Pro609fs)
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu) rs1554558199
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter) rs1554558199
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe) rs1810520002
NM_002485.5(NBN):c.1845+1G>A rs2129695663
NM_002485.5(NBN):c.1845+4A>G
NM_002485.5(NBN):c.1845+5_1845+8del rs1563524615
NM_002485.5(NBN):c.1846-1G>A rs61753717
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp) rs1660299603
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly) rs962092255
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys) rs962092255
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter) rs1810267412
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
NM_002485.5(NBN):c.188T>A (p.Ile63Asn) rs961554359
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg) rs1586043635
NM_002485.5(NBN):c.190C>T (p.Pro64Ser) rs267602038
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.1914+2_1914+3del rs1586043528
NM_002485.5(NBN):c.1915-5T>G rs1554556608
NM_002485.5(NBN):c.191C>G (p.Pro64Arg) rs1563581492
NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg) rs1477953712
NM_002485.5(NBN):c.194T>A (p.Val65Glu) rs1563581457
NM_002485.5(NBN):c.1958dup (p.Leu654fs) rs780235686
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys) rs201781110
NM_002485.5(NBN):c.1984C>A (p.Leu662Met)
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys) rs1554556522
NM_002485.5(NBN):c.202T>G (p.Leu68Val) rs1200599843
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs) rs1036111786
NM_002485.5(NBN):c.2039G>A (p.Gly680Asp)
NM_002485.5(NBN):c.2051del (p.Asn684fs) rs1586040200
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser) rs1181142133
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln) rs587780092
NM_002485.5(NBN):c.2070+5G>A rs1323512485
NM_002485.5(NBN):c.2071-1G>A rs786201965
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2071del rs2130756322
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg) rs746090959
NM_002485.5(NBN):c.2097dup (p.Pro700fs)
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr) rs1060503461
NM_002485.5(NBN):c.2101C>T (p.His701Tyr) rs587781567
NM_002485.5(NBN):c.210T>G (p.Asp70Glu) rs1554568357
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.2131C>T (p.His711Tyr) rs780333168
NM_002485.5(NBN):c.2131CAT[1] (p.His712del) rs786204096
NM_002485.5(NBN):c.2143_2144insTGAA (p.Lys715fs)
NM_002485.5(NBN):c.215del (p.Ser72fs)
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
NM_002485.5(NBN):c.2167del (p.Trp722_Leu723insTer)
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly) rs1554555736
NM_002485.5(NBN):c.217A>T (p.Lys73Ter) rs2129915767
NM_002485.5(NBN):c.2185-1G>A rs1057517262
NM_002485.5(NBN):c.2185-3C>T rs1809726732
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter) rs1554554265
NM_002485.5(NBN):c.2197del (p.His733fs)
NM_002485.5(NBN):c.2198A>G (p.His733Arg) rs998714046
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2210A>T (p.Glu737Val) rs1554554247
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu) rs767523514
NM_002485.5(NBN):c.2235-1G>C
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
NM_002485.5(NBN):c.226A>G (p.Thr76Ala) rs1586108851
NM_002485.5(NBN):c.241del (p.Glu81fs)
NM_002485.5(NBN):c.244A>G (p.Lys82Glu) rs193921030
NM_002485.5(NBN):c.247A>G (p.Met83Val) rs955258267
NM_002485.5(NBN):c.247A>T (p.Met83Leu) rs955258267
NM_002485.5(NBN):c.247dup (p.Met83fs)
NM_002485.5(NBN):c.249G>A (p.Met83Ile) rs1438838735
NM_002485.5(NBN):c.25G>A (p.Gly9Ser) rs2129938127
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_002485.5(NBN):c.278C>A (p.Ser93Ter) rs12721593
NM_002485.5(NBN):c.278C>G (p.Ser93Trp)
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.328T>G (p.Tyr110Asp)
NM_002485.5(NBN):c.32C>A (p.Ala11Glu)
NM_002485.5(NBN):c.332A>C (p.Glu111Ala) rs876659320
NM_002485.5(NBN):c.335C>G (p.Pro112Arg) rs759723870
NM_002485.5(NBN):c.340G>T (p.Val114Phe) rs771034958
NM_002485.5(NBN):c.34G>A (p.Gly12Arg) rs878854511
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del) rs730881841
NM_002485.5(NBN):c.359T>G (p.Leu120Ter) rs1563579387
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
NM_002485.5(NBN):c.365T>C (p.Val122Ala)
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-2A>G rs771475965
NM_002485.5(NBN):c.38-3C>G rs876661099
NM_002485.5(NBN):c.388C>G (p.Gln130Glu) rs1586107038
NM_002485.5(NBN):c.392C>G (p.Ala131Gly) rs1469136096
NM_002485.5(NBN):c.403C>T (p.Leu135Phe)
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
NM_002485.5(NBN):c.414del (p.Phe138fs)
NM_002485.5(NBN):c.429G>A (p.Trp143Ter) rs1812023981
NM_002485.5(NBN):c.431C>T (p.Thr144Ile) rs1554567906
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.474del (p.Ile159fs) rs1563578540
NM_002485.5(NBN):c.480+1G>A
NM_002485.5(NBN):c.480+3A>G rs756817252
NM_002485.5(NBN):c.490G>A (p.Ala164Thr) rs786201252
NM_002485.5(NBN):c.4del (p.Trp2fs) rs1275657359
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.515T>C (p.Val172Ala) rs1554566701
NM_002485.5(NBN):c.523G>C (p.Glu175Gln) rs730881861
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.536A>T (p.Glu179Val) rs864622578
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002485.5(NBN):c.565C>G (p.Gln189Glu) rs1198614767
NM_002485.5(NBN):c.565C>T (p.Gln189Ter) rs1198614767
NM_002485.5(NBN):c.572C>T (p.Pro191Leu) rs876661071
NM_002485.5(NBN):c.580G>T (p.Glu194Ter) rs1554566610
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.585-2A>G rs772005832
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.593C>T (p.Pro198Leu) rs951997505
NM_002485.5(NBN):c.600TGA[1] (p.Asp201del) rs755050499
NM_002485.5(NBN):c.601G>C (p.Asp201His) rs757186245
NM_002485.5(NBN):c.602A>G (p.Asp201Gly) rs587780098
NM_002485.5(NBN):c.608del (p.Pro203fs)
NM_002485.5(NBN):c.614T>C (p.Ile205Thr) rs786203215
NM_002485.5(NBN):c.625A>C (p.Asn209His)
NM_002485.5(NBN):c.631G>C (p.Asp211His) rs752104183
NM_002485.5(NBN):c.633_642del (p.Leu212fs)
NM_002485.5(NBN):c.655A>C (p.Lys219Gln) rs730881846
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.697A>C (p.Lys233Gln) rs1554564205
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.702+2T>C rs1811497703
NM_002485.5(NBN):c.704A>C (p.His235Pro)
NM_002485.5(NBN):c.727G>C (p.Val243Leu) rs786203253
NM_002485.5(NBN):c.72C>G (p.Tyr24Ter)
NM_002485.5(NBN):c.73del (p.Val25fs)
NM_002485.5(NBN):c.742dup (p.Glu248fs)
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del) rs2129830023
NM_002485.5(NBN):c.76G>T (p.Val26Phe) rs752964949
NM_002485.5(NBN):c.779A>G (p.His260Arg)
NM_002485.5(NBN):c.77T>C (p.Val26Ala) rs781536675
NM_002485.5(NBN):c.782del (p.Asn261fs)
NM_002485.5(NBN):c.794dup (p.Pro266fs)
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.80G>A (p.Gly27Glu) rs755171159
NM_002485.5(NBN):c.812T>C (p.Val271Ala) rs1811458181
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.836_839del (p.Gln279fs) rs864309668
NM_002485.5(NBN):c.857A>G (p.Gln286Arg) rs1586086458
NM_002485.5(NBN):c.872A>C (p.Gln291Pro) rs587778547
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.882G>C (p.Met294Ile) rs1811450172
NM_002485.5(NBN):c.896+1G>A rs778306619
NM_002485.5(NBN):c.896+2T>C rs754659423
NM_002485.5(NBN):c.896G>A (p.Arg299Lys)
NM_002485.5(NBN):c.897G>T (p.Arg299Ser) rs779798363
NM_002485.5(NBN):c.900_924del (p.Gly301fs) rs1057519587
NM_002485.5(NBN):c.913A>G (p.Ile305Val)
NM_002485.5(NBN):c.925G>A (p.Glu309Lys) rs587780101
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.953C>T (p.Thr318Ile) rs1811146292
NM_002485.5(NBN):c.962del (p.Asn321fs) rs1586075907
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter) rs748453607
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer) rs1811144443
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002485.5(NBN):c.994+1G>A rs1554562083
NM_002485.5(NBN):c.994+1G>T rs1554562083
NM_002485.5(NBN):c.995-23_998inv
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_002485.5(NBN):c.99T>G (p.Ile33Met) rs1172365532
NM_002641.4(PIGA):c.1048C>T (p.Pro350Ser) rs372966902
NM_002641.4(PIGA):c.109A>G (p.Met37Val) rs2147724073
NM_002641.4(PIGA):c.1115del (p.Pro372fs) rs587776725
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
NM_002641.4(PIGA):c.1188+1G>A rs2147717286
NM_002641.4(PIGA):c.1188+1G>C
NM_002641.4(PIGA):c.1188+2del rs587776723
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.1323_1324del (p.Leu442fs) rs587776728
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val) rs1921817445
NM_002641.4(PIGA):c.1355_1356insAATTGAGATGGATGACTCCAGATTCTATCATTGA (p.Asp452delinsGluIleGluMetAspAspSerArgPheTyrHisTer) rs786200912
NM_002641.4(PIGA):c.142G>A (p.Gly48Ser)
NM_002641.4(PIGA):c.145G>A (p.Val49Met) rs1569180100
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
NM_002641.4(PIGA):c.163C>T (p.Gln55Ter) rs199422233
NM_002641.4(PIGA):c.167T>C (p.Leu56Pro)
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro) rs1569180063
NM_002641.4(PIGA):c.249_250insGT (p.Thr84fs) rs587776726
NM_002641.4(PIGA):c.294C>A (p.Tyr98Ter) rs199422232
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.368C>T (p.Thr123Met) rs1555945480
NM_002641.4(PIGA):c.431del (p.Thr144fs) rs587776727
NM_002641.4(PIGA):c.459_460insA (p.His154fs) rs587776724
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
NM_004972.4(JAK2):c.2768G>T (p.Arg923Leu)
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1035_1042del (p.Thr346fs)
NM_005373.3(MPL):c.1095del (p.Val366fs)
NM_005373.3(MPL):c.1166-1G>C rs2153918730
NM_005373.3(MPL):c.1166_1169dup
NM_005373.3(MPL):c.1365_1366del (p.Arg456fs)
NM_005373.3(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1629del (p.Arg544fs)
NM_005373.3(MPL):c.1653+1G>C
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1654-1G>A
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.256del (p.His86fs)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.308del (p.Leu103fs) rs1361003749
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.407C>A (p.Pro136His) rs764904424
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.409A>G (p.Ser137Gly)
NM_005373.3(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.3(MPL):c.690+1G>A
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)
NM_005373.3(MPL):c.821del (p.Leu274fs)
NM_005373.3(MPL):c.933_935dup (p.Ser311_Gln312insHis)
NM_005373.3(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.3(MPL):c.981-1G>T
NM_005373.3(MPL):c.993_996delinsA (p.Trp331_Glu332delinsTer)
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)
NM_005475.3(SH2B3):c.1696C>T (p.Arg566Trp)
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005475.3(SH2B3):c.89G>A (p.Cys30Tyr)
NM_015937.6(PIGT):c.1072G>A (p.Val358Met) rs370184382
NM_015937.6(PIGT):c.1252C>G (p.Pro418Ala)
NM_015937.6(PIGT):c.1401-2A>G rs587777028
NM_015937.6(PIGT):c.197del (p.Tyr66fs) rs1555876283
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_015937.6(PIGT):c.767_770del (p.Lys256fs) rs776974834
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
NM_016038.4(SBDS):c.107del (p.Val36fs)
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+1G>A
NM_016038.4(SBDS):c.129-2A>C
NM_016038.4(SBDS):c.129-71_140del
NM_016038.4(SBDS):c.160dup (p.His54fs)
NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)
NM_016038.4(SBDS):c.171dup (p.Val58fs)
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.259-2A>C
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.307_308del (p.Gln103fs)
NM_016038.4(SBDS):c.40A>G (p.Asn14Asp)
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.523del (p.Arg175fs)
NM_016038.4(SBDS):c.624+1G>A
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys) rs1131691842
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_198253.2(TERT):c.[2371G>A;2599G>A]
NM_198253.3(TERT):c.*308A>G rs1747469600
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.1110C>G (p.Pro370=) rs1579597009
NM_198253.3(TERT):c.1195_1210dup (p.Pro404fs)
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) rs370887827
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1269C>T (p.Ala423=) rs190411812
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) rs1030586939
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1401C>T (p.Ala467=) rs1751126189
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.1601A>G (p.His534Arg)
NM_198253.3(TERT):c.164T>A (p.Leu55Gln) rs387907247
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) rs199422294
NM_198253.3(TERT):c.2003A>C (p.Glu668Ala) rs1749859084
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) rs1749858434
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2053_2055del (p.Asp685del)
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2131-2A>G
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) rs387907249
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.219+1G>A rs199422309
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2240del (p.Val747fs) rs199422300
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
NM_198253.3(TERT):c.2426_2427del (p.Phe809fs)
NM_198253.3(TERT):c.2523C>G (p.Leu841=) rs1554039733
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys) rs199422302
NM_198253.3(TERT):c.2583-2A>C rs111576740
NM_198253.3(TERT):c.2583-2A>T
NM_198253.3(TERT):c.2599G>A (p.Val867Met) rs201159197
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.2628C>G (p.His876Gln) rs199422303
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.2665C>T (p.Arg889Ter)
NM_198253.3(TERT):c.2705A>G (p.Lys902Arg) rs387907250
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) rs199422305
NM_198253.3(TERT):c.2959C>G (p.Leu987Val) rs1748147415
NM_198253.3(TERT):c.2971-14C>T rs2126573743
NM_198253.3(TERT):c.2991del (p.Cys998fs) rs1554038539
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.3033-2A>C
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg) rs199422307
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689
NM_198253.3(TERT):c.336dup (p.Glu113fs) rs1060502990
NM_198253.3(TERT):c.3399A>G (p.Ter1133Trp) rs1554038048
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
NM_198253.3(TERT):c.483G>C (p.Leu161=) rs755155708
NM_198253.3(TERT):c.559C>A (p.Pro187Thr) rs1751234467
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter) rs1554043041
NM_198253.3(TERT):c.663G>T (p.Ala221=) rs35837567
NM_198253.3(TERT):c.696G>T (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NR_001566.1(TERC):n.407_408delinsAA rs1553915580
NR_001566.3(TERC):n.107G>T rs1553915617
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.117A>C rs199422273
NR_001566.3(TERC):n.118_121GCGG[1] rs1553915612
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.178G>A rs199422275
NR_001566.3(TERC):n.180C>T rs199422276
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.212C>G rs2108183105
NR_001566.3(TERC):n.26_32delGGGTGGT rs199422259
NR_001566.3(TERC):n.301A>T
NR_001566.3(TERC):n.305G>A rs199422279
NR_001566.3(TERC):n.322G>A rs199422280
NR_001566.3(TERC):n.323C>T rs199422281
NR_001566.3(TERC):n.325G>T rs1777959964
NR_001566.3(TERC):n.389_390delCC rs199422283
NR_001566.3(TERC):n.69_74dup rs1553915621
NR_001566.3(TERC):n.72C>G rs199422265
NR_001566.3(TERC):n.95G>C rs1777963668
NR_001566.3(TERC):n.98G>A rs199422268

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