ClinVar Miner

List of variants reported as uncertain significance for lung disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (142):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4596
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721 0.00068
NM_004990.4(MARS1):c.2390C>T (p.Thr797Ile) rs146851019 0.00066
NM_001283009.2(RTEL1):c.2600C>T (p.Pro867Leu) rs139083375 0.00065
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588 0.00063
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_001283009.2(RTEL1):c.3251C>T (p.Thr1084Ile) rs142457144 0.00055
NM_198253.3(TERT):c.769G>T (p.Ala257Ser) rs964055372 0.00053
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His) rs113684274 0.00050
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787 0.00049
NM_001283009.2(RTEL1):c.1205T>C (p.Val402Ala) rs137956338 0.00046
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070 0.00044
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.245C>T (p.Pro82Leu) rs143461704 0.00042
NM_001283009.2(RTEL1):c.2652+4C>T rs374540895 0.00042
NM_001283009.2(RTEL1):c.3311C>T (p.Thr1104Ile) rs190297758 0.00040
NM_004990.4(MARS1):c.986C>A (p.Pro329His) rs145260922 0.00040
NM_002582.4(PARN):c.466G>T (p.Ala156Ser) rs200103366 0.00038
NM_004990.4(MARS1):c.1127G>A (p.Arg376Gln) rs150428018 0.00037
NM_172245.4(CSF2RA):c.676G>A (p.Val226Ile) rs181719822 0.00033
NM_001283009.2(RTEL1):c.3080C>T (p.Pro1027Leu) rs141782041 0.00031
NM_001283009.2(RTEL1):c.3590G>C (p.Gly1197Ala) rs138500086 0.00031
NM_004990.4(MARS1):c.1388A>G (p.Glu463Gly) rs149432418 0.00031
NM_172245.4(CSF2RA):c.334C>T (p.Pro112Ser) rs147866013 0.00031
NM_001283009.2(RTEL1):c.3900G>T (p.Gln1300His) rs374244090 0.00028
NM_172245.4(CSF2RA):c.692C>T (p.Thr231Met) rs149974131 0.00028
NM_001283009.2(RTEL1):c.2470C>T (p.Pro824Ser) rs138188555 0.00027
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00024
NM_198253.3(TERT):c.2014C>T (p.Arg672Cys) rs368430301 0.00024
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_172245.4(CSF2RA):c.826G>A (p.Asp276Asn) rs143703263 0.00022
NM_000388.4(CASR):c.2237C>T (p.Ala746Val) rs139417576 0.00021
NM_002582.4(PARN):c.1733T>G (p.Leu578Arg) rs748575531 0.00021
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu) rs200434143 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met) rs149145821 0.00020
NM_002582.4(PARN):c.1493G>A (p.Ser498Asn) rs200471459 0.00020
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.3278A>G (p.Asp1093Gly) rs374338519 0.00019
NM_001283009.2(RTEL1):c.334G>A (p.Ala112Thr) rs151214675 0.00019
NM_002582.4(PARN):c.943A>G (p.Thr315Ala) rs371788207 0.00019
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp) rs151196994 0.00019
NM_001283009.2(RTEL1):c.3505T>C (p.Ser1169Pro) rs143248833 0.00017
NM_002582.4(PARN):c.1213A>G (p.Lys405Glu) rs548716060 0.00017
NM_172245.4(CSF2RA):c.953A>T (p.Asp318Val) rs374398870 0.00017
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln) rs369716125 0.00016
NM_004990.4(MARS1):c.2138G>A (p.Arg713Gln) rs200011880 0.00016
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446 0.00016
NM_172245.4(CSF2RA):c.251G>A (p.Arg84His) rs111646204 0.00016
NM_172245.4(CSF2RA):c.780+3C>T rs368467031 0.00016
NM_001283009.2(RTEL1):c.2899G>C (p.Val967Leu) rs149537474 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001283009.2(RTEL1):c.3361C>T (p.Arg1121Cys) rs374441172 0.00014
NM_004990.4(MARS1):c.2415G>A (p.Leu805=) rs374963162 0.00014
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809 0.00014
NM_172245.4(CSF2RA):c.1034T>C (p.Leu345Pro) rs138753301 0.00014
NM_172245.4(CSF2RA):c.1061G>A (p.Arg354Gln) rs144555820 0.00014
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001283009.2(RTEL1):c.2534C>T (p.Ala845Val) rs371852881 0.00013
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu) rs199698251 0.00012
NM_001283009.2(RTEL1):c.2474T>C (p.Val825Ala) rs778102066 0.00011
NM_001283009.2(RTEL1):c.3022G>A (p.Val1008Met) rs145335410 0.00011
NM_001283009.2(RTEL1):c.3239T>C (p.Leu1080Ser) rs770243852 0.00011
NM_002582.4(PARN):c.1151A>G (p.Tyr384Cys) rs199551987 0.00011
NM_002582.4(PARN):c.1613G>C (p.Arg538Pro) rs377199187 0.00011
NM_001283009.2(RTEL1):c.2413+4C>T rs761756257 0.00010
NM_001283009.2(RTEL1):c.250C>T (p.Arg84Trp) rs373874416 0.00010
NM_001283009.2(RTEL1):c.3103C>T (p.Pro1035Ser) rs754768798 0.00010
NM_001283009.2(RTEL1):c.718A>G (p.Ile240Val) rs141578937 0.00010
NM_002582.4(PARN):c.1046G>A (p.Arg349Gln) rs201053607 0.00010
NM_172245.4(CSF2RA):c.1186G>A (p.Val396Met) rs139686363 0.00010
NM_198253.3(TERT):c.3332C>T (p.Thr1111Met) rs370686937 0.00010
NM_001283009.2(RTEL1):c.2935C>T (p.Arg979Trp) rs144034326 0.00009
NM_001283009.2(RTEL1):c.3064C>G (p.Leu1022Val) rs200933423 0.00009
NM_001283009.2(RTEL1):c.3137G>A (p.Gly1046Glu) rs772914279 0.00009
NM_002582.4(PARN):c.702+5C>T rs368739970 0.00009
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys) rs772759631 0.00009
NM_004990.4(MARS1):c.1049C>T (p.Ser350Leu) rs147637407 0.00009
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594 0.00009
NM_004990.4(MARS1):c.2672C>T (p.Pro891Leu) rs148245567 0.00009
NM_004990.4(MARS1):c.298C>G (p.Leu100Val) rs200701235 0.00009
NM_172245.4(CSF2RA):c.490C>T (p.Arg164Trp) rs145093302 0.00009
NM_172245.4(CSF2RA):c.789G>C (p.Gln263His) rs759171777 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_001283009.2(RTEL1):c.2877C>A (p.His959Gln) rs373996455 0.00008
NM_001283009.2(RTEL1):c.3107C>G (p.Thr1036Arg) rs138576158 0.00008
NM_002582.4(PARN):c.1405+3A>G rs368839652 0.00008
NM_004990.4(MARS1):c.1000G>A (p.Asp334Asn) rs760487210 0.00008
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn) rs748377952 0.00008
NM_172245.4(CSF2RA):c.502T>A (p.Tyr168Asn) rs769648353 0.00008
NM_000388.4(CASR):c.2356A>G (p.Ile786Val) rs371882068 0.00007
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys) rs143719170 0.00007
NM_001283009.2(RTEL1):c.1310G>C (p.Arg437Pro) rs537151019 0.00007
NM_001283009.2(RTEL1):c.1722+3G>A rs200599544 0.00007
NM_001283009.2(RTEL1):c.3589G>A (p.Gly1197Ser) rs545606632 0.00007
NM_001283009.2(RTEL1):c.958+3A>G rs200787633 0.00007
NM_002582.4(PARN):c.1006-11G>A rs746114163 0.00007
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999 0.00007
NM_172245.4(CSF2RA):c.1016G>T (p.Gly339Val) rs760207183 0.00007
NM_172245.4(CSF2RA):c.428C>T (p.Thr143Met) rs190144821 0.00007
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His) rs189116118 0.00006
NM_001283009.2(RTEL1):c.2261G>A (p.Arg754Gln) rs141423196 0.00006
NM_001283009.2(RTEL1):c.2548G>A (p.Glu850Lys) rs757613157 0.00006
NM_001283009.2(RTEL1):c.2707G>A (p.Val903Met) rs143317975 0.00006
NM_001283009.2(RTEL1):c.2903G>C (p.Cys968Ser) rs375503989 0.00006
NM_001283009.2(RTEL1):c.3508C>T (p.Arg1170Trp) rs773894104 0.00006
NM_001283009.2(RTEL1):c.3509G>A (p.Arg1170Gln) rs375593361 0.00006
NM_002582.4(PARN):c.1501G>T (p.Ala501Ser) rs199651788 0.00006
NM_002582.4(PARN):c.1660C>T (p.Arg554Cys) rs754540436 0.00006
NM_002582.4(PARN):c.745C>T (p.Arg249Cys) rs774170618 0.00006
NM_002582.4(PARN):c.840+4A>G rs777207121 0.00006
NM_002582.4(PARN):c.917C>T (p.Ala306Val) rs201362263 0.00006
NM_004990.4(MARS1):c.1540-3C>T rs372013808 0.00006
NM_004990.4(MARS1):c.1700C>T (p.Ser567Leu) rs143592405 0.00006
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn) rs139600659 0.00006
NM_004990.4(MARS1):c.2236G>T (p.Val746Leu) rs765690389 0.00006
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392 0.00006
NM_172245.4(CSF2RA):c.565C>T (p.Arg189Cys) rs141694686 0.00006
NM_172245.4(CSF2RA):c.625C>G (p.Leu209Val) rs201554870 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys) rs570674743 0.00005
NM_001283009.2(RTEL1):c.1135C>T (p.Arg379Cys) rs201938707 0.00005
NM_001283009.2(RTEL1):c.1191+6G>T rs760073413 0.00005
NM_001283009.2(RTEL1):c.1399C>G (p.Leu467Val) rs369714122 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00005
NM_001283009.2(RTEL1):c.2318C>G (p.Ala773Gly) rs746270116 0.00005
NM_001283009.2(RTEL1):c.2834A>G (p.Lys945Arg) rs369064972 0.00005
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.3178G>A (p.Val1060Met) rs116768542 0.00005
NM_001283009.2(RTEL1):c.3221C>T (p.Ala1074Val) rs370571374 0.00005
NM_001283009.2(RTEL1):c.3277G>A (p.Asp1093Asn) rs767674666 0.00005
NM_001283009.2(RTEL1):c.3592G>A (p.Glu1198Lys) rs771457769 0.00005
NM_001283009.2(RTEL1):c.640A>T (p.Asn214Tyr) rs746411863 0.00005
NM_002582.4(PARN):c.1655A>G (p.Tyr552Cys) rs375813873 0.00005
NM_002582.4(PARN):c.168G>C (p.Lys56Asn) rs375964590 0.00005
NM_002582.4(PARN):c.1891A>G (p.Thr631Ala) rs200677089 0.00005
NM_002582.4(PARN):c.19+4C>T rs748893191 0.00005
NM_002582.4(PARN):c.407A>T (p.Gln136Leu) rs374762200 0.00005
NM_004990.4(MARS1):c.1091+2dup rs754216322 0.00005
NM_004990.4(MARS1):c.1567A>G (p.Ile523Val) rs759198038 0.00005
NM_004990.4(MARS1):c.1651T>C (p.Phe551Leu) rs778475853 0.00005
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser) rs776411681 0.00005
NM_004990.4(MARS1):c.2179C>T (p.Arg727Trp) rs369861995 0.00005
NM_004990.4(MARS1):c.740T>C (p.Leu247Ser) rs763613524 0.00005
NM_172245.4(CSF2RA):c.1111G>C (p.Glu371Gln) rs765357225 0.00005
NM_198253.3(TERT):c.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys) rs372504955 0.00004
NM_000388.4(CASR):c.1549A>G (p.Lys517Glu) rs768663095 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His) rs148892841 0.00004
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00004
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr) rs369566518 0.00004
NM_000543.5(SMPD1):c.605G>A (p.Arg202His) rs757850587 0.00004
NM_001283009.2(RTEL1):c.1004C>G (p.Pro335Arg) rs750272281 0.00004
NM_001283009.2(RTEL1):c.1012G>A (p.Asp338Asn) rs116495318 0.00004
NM_001283009.2(RTEL1):c.1178C>T (p.Ala393Val) rs200555432 0.00004
NM_001283009.2(RTEL1):c.1594C>T (p.Arg532Trp) rs779050514 0.00004
NM_001283009.2(RTEL1):c.1596-8G>A rs374702981 0.00004
NM_001283009.2(RTEL1):c.1729G>A (p.Asp577Asn) rs371161995 0.00004
NM_001283009.2(RTEL1):c.1800+4G>A rs370973086 0.00004
NM_001283009.2(RTEL1):c.2063C>G (p.Ser688Cys) rs773265745 0.00004
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr) rs149063501 0.00004
NM_001283009.2(RTEL1):c.220G>A (p.Glu74Lys) rs140042227 0.00004
NM_001283009.2(RTEL1):c.2273C>T (p.Ala758Val) rs745535053 0.00004
NM_001283009.2(RTEL1):c.2279C>T (p.Ala760Val) rs761666401 0.00004
NM_001283009.2(RTEL1):c.2284C>T (p.Arg762Trp) rs750251447 0.00004
NM_001283009.2(RTEL1):c.2509G>A (p.Ala837Thr) rs753435220 0.00004
NM_001283009.2(RTEL1):c.2579C>T (p.Ser860Phe) rs772872062 0.00004
NM_001283009.2(RTEL1):c.259T>A (p.Ser87Thr) rs543685758 0.00004
NM_001283009.2(RTEL1):c.2624G>A (p.Arg875Lys) rs200565373 0.00004
NM_001283009.2(RTEL1):c.2761G>C (p.Asp921His) rs765668627 0.00004
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met) rs201560152 0.00004
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00004
NM_001283009.2(RTEL1):c.3362G>A (p.Arg1121His) rs765060195 0.00004
NM_001283009.2(RTEL1):c.3392C>T (p.Thr1131Met) rs372852392 0.00004
NM_001283009.2(RTEL1):c.3409G>A (p.Gly1137Ser) rs202193792 0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu) rs749331637 0.00004
NM_001283009.2(RTEL1):c.3479C>T (p.Thr1160Ile) rs754781364 0.00004
NM_001283009.2(RTEL1):c.3584C>T (p.Ala1195Val) rs778286683 0.00004
NM_001283009.2(RTEL1):c.380G>A (p.Arg127Gln) rs769163032 0.00004
NM_001283009.2(RTEL1):c.3876G>A (p.Met1292Ile) rs199760510 0.00004
NM_001283009.2(RTEL1):c.638G>A (p.Arg213Gln) rs770742969 0.00004
NM_001283009.2(RTEL1):c.666A>G (p.Ile222Met) rs373656372 0.00004
NM_001283009.2(RTEL1):c.763G>A (p.Val255Met) rs778675789 0.00004
NM_001283009.2(RTEL1):c.902C>T (p.Ala301Val) rs373849709 0.00004
NM_001283009.2(RTEL1):c.988G>A (p.Asp330Asn) rs753838163 0.00004
NM_002582.4(PARN):c.1330C>T (p.Arg444Cys) rs765981944 0.00004
NM_002582.4(PARN):c.19A>C (p.Asn7His) rs1371498176 0.00004
NM_002582.4(PARN):c.383G>A (p.Arg128Gln) rs778795386 0.00004
NM_002582.4(PARN):c.448C>T (p.Arg150Cys) rs777558836 0.00004
NM_002582.4(PARN):c.482A>G (p.Tyr161Cys) rs201990148 0.00004
NM_002582.4(PARN):c.530A>G (p.Gln177Arg) rs772994032 0.00004
NM_002582.4(PARN):c.619G>A (p.Gly207Arg) rs373203553 0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00004
NM_002582.4(PARN):c.840G>A (p.Ser280=) rs200026431 0.00004
NM_004990.4(MARS1):c.1337C>T (p.Ser446Leu) rs562565076 0.00004
NM_004990.4(MARS1):c.1448G>A (p.Arg483His) rs779123068 0.00004
NM_004990.4(MARS1):c.1459C>T (p.Arg487Trp) rs551633010 0.00004
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075 0.00004
NM_004990.4(MARS1):c.2446C>T (p.Arg816Cys) rs368028253 0.00004
NM_004990.4(MARS1):c.2569C>T (p.Arg857Ter) rs768234938 0.00004
NM_004990.4(MARS1):c.266C>T (p.Ala89Val) rs781061568 0.00004
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530 0.00004
NM_004990.4(MARS1):c.478G>A (p.Ala160Thr) rs764006401 0.00004
NM_004990.4(MARS1):c.650C>T (p.Thr217Ile) rs759101321 0.00004
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436 0.00004
NM_004990.4(MARS1):c.854T>C (p.Ile285Thr) rs141105798 0.00004
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys) rs745584505 0.00004
NM_172245.4(CSF2RA):c.101C>G (p.Ser34Cys) rs139819371 0.00004
NM_172245.4(CSF2RA):c.1171G>A (p.Glu391Lys) rs779979042 0.00004
NM_172245.4(CSF2RA):c.281T>C (p.Phe94Ser) rs774500472 0.00004
NM_172245.4(CSF2RA):c.596G>A (p.Arg199Gln) rs144461826 0.00004
NM_172245.4(CSF2RA):c.689C>T (p.Thr230Met) rs371464087 0.00004
NM_172245.4(CSF2RA):c.703G>A (p.Val235Ile) rs754889776 0.00004
NM_172245.4(CSF2RA):c.706C>T (p.Arg236Trp) rs200071635 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.2188G>A (p.Ala730Thr) rs761116773 0.00004
NM_198253.3(TERT):c.2368G>A (p.Val790Ile) rs371413388 0.00004
NM_198253.3(TERT):c.2576G>A (p.Arg859Gln) rs755183437 0.00004
NM_198253.3(TERT):c.2750C>T (p.Thr917Met) rs779102560 0.00004
NM_198253.3(TERT):c.3032+6C>T rs1405075700 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) rs760506005 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr) rs761468327 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu) rs757736220 0.00003
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) rs201828974 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.2717C>T (p.Thr906Met) rs200357435 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000388.4(CASR):c.787A>G (p.Thr263Ala) rs1161925579 0.00003
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser) rs761144309 0.00003
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg) rs538153468 0.00003
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser) rs142476839 0.00003
NM_001283009.2(RTEL1):c.1225C>G (p.Pro409Ala) rs371603433 0.00003
NM_001283009.2(RTEL1):c.1294C>T (p.Arg432Trp) rs748434559 0.00003
NM_001283009.2(RTEL1):c.1871G>A (p.Arg624Gln) rs753779060 0.00003
NM_001283009.2(RTEL1):c.1963C>T (p.Arg655Trp) rs764349649 0.00003
NM_001283009.2(RTEL1):c.2306G>A (p.Arg769His) rs369014080 0.00003
NM_001283009.2(RTEL1):c.2547C>T (p.Gly849=) rs371353556 0.00003
NM_001283009.2(RTEL1):c.2561A>C (p.His854Pro) rs747542418 0.00003
NM_001283009.2(RTEL1):c.2692C>T (p.Leu898Phe) rs555482478 0.00003
NM_001283009.2(RTEL1):c.2782T>G (p.Phe928Val) rs953069213 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3020C>G (p.Thr1007Ser) rs776712596 0.00003
NM_001283009.2(RTEL1):c.3063C>A (p.His1021Gln) rs761907604 0.00003
NM_001283009.2(RTEL1):c.3487G>T (p.Ala1163Ser) rs550764571 0.00003
NM_001283009.2(RTEL1):c.3503C>T (p.Pro1168Leu) rs376829126 0.00003
NM_001283009.2(RTEL1):c.3521C>T (p.Thr1174Ile) rs201992738 0.00003
NM_001283009.2(RTEL1):c.3704G>A (p.Gly1235Asp) rs942254441 0.00003
NM_001283009.2(RTEL1):c.490C>T (p.Arg164Cys) rs752046445 0.00003
NM_001283009.2(RTEL1):c.600C>A (p.Ser200Arg) rs771785679 0.00003
NM_001283009.2(RTEL1):c.709G>A (p.Ala237Thr) rs1023502136 0.00003
NM_001283009.2(RTEL1):c.771G>C (p.Lys257Asn) rs1036504358 0.00003
NM_001283009.2(RTEL1):c.785C>T (p.Ser262Leu) rs772044888 0.00003
NM_001283009.2(RTEL1):c.901G>A (p.Ala301Thr) rs201365106 0.00003
NM_002582.4(PARN):c.1637A>G (p.Tyr546Cys) rs752082579 0.00003
NM_002582.4(PARN):c.1691T>C (p.Val564Ala) rs200433771 0.00003
NM_002582.4(PARN):c.581G>A (p.Ser194Asn) rs374622245 0.00003
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960 0.00003
NM_004990.4(MARS1):c.1378C>T (p.Arg460Ter) rs764820125 0.00003
NM_004990.4(MARS1):c.1454G>A (p.Trp485Ter) rs746422516 0.00003
NM_004990.4(MARS1):c.1568T>C (p.Ile523Thr) rs201555303 0.00003
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261 0.00003
NM_004990.4(MARS1):c.1732G>A (p.Val578Ile) rs544343105 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141 0.00003
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927 0.00003
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223 0.00003
NM_004990.4(MARS1):c.751C>T (p.Arg251Trp) rs765580781 0.00003
NM_172245.4(CSF2RA):c.1168C>G (p.Arg390Gly) rs150603886 0.00003
NM_172245.4(CSF2RA):c.232G>A (p.Glu78Lys) rs753067685 0.00003
NM_172245.4(CSF2RA):c.75G>A (p.Ser25=) rs778872405 0.00003
NM_198253.3(TERT):c.1099G>T (p.Gly367Cys) rs1751163506 0.00003
NM_198253.3(TERT):c.1142G>C (p.Arg381Pro) rs777343359 0.00003
NM_198253.3(TERT):c.1270G>A (p.Gly424Ser) rs374180689 0.00003
NM_198253.3(TERT):c.2354C>G (p.Pro785Arg) rs483352771 0.00003
NM_198253.3(TERT):c.2387C>T (p.Ser796Phe) rs369810792 0.00003
NM_198253.3(TERT):c.2422G>A (p.Val808Ile) rs200119385 0.00003
NM_198253.3(TERT):c.3110C>G (p.Ser1037Cys) rs1060503001 0.00003
NM_198253.3(TERT):c.536G>T (p.Gly179Val) rs771590775 0.00003
NM_198253.3(TERT):c.611A>T (p.Asn204Ile) rs764473257 0.00003
NM_198253.3(TERT):c.859G>A (p.Gly287Ser) rs746095609 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn) rs200196962 0.00002
NM_000388.4(CASR):c.1099C>T (p.Pro367Ser) rs534100808 0.00002
NM_000388.4(CASR):c.1235C>T (p.Thr412Met) rs1473520699 0.00002
NM_000388.4(CASR):c.1377G>A (p.Gln459=) rs375297380 0.00002
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp) rs147376568 0.00002
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) rs757302986 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2761G>A (p.Glu921Lys) rs755629322 0.00002
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile) rs774943243 0.00002
NM_000388.4(CASR):c.445G>A (p.Val149Ile) rs749288251 0.00002
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453 0.00002
NM_000388.4(CASR):c.712G>A (p.Asp238Asn) rs373376842 0.00002
NM_000388.4(CASR):c.873G>C (p.Lys291Asn) rs748306088 0.00002
NM_001283009.2(RTEL1):c.1228G>T (p.Gly410Cys) rs866955014 0.00002
NM_001283009.2(RTEL1):c.1266+3A>G rs889856101 0.00002
NM_001283009.2(RTEL1):c.1393C>T (p.His465Tyr) rs142928306 0.00002
NM_001283009.2(RTEL1):c.1477C>G (p.Gln493Glu) rs372871657 0.00002
NM_001283009.2(RTEL1):c.1603G>A (p.Glu535Lys) rs1367858373 0.00002
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys) rs1046172136 0.00002
NM_001283009.2(RTEL1):c.1800+3C>T rs764757029 0.00002
NM_001283009.2(RTEL1):c.1948C>T (p.Pro650Ser) rs768489017 0.00002
NM_001283009.2(RTEL1):c.1951C>T (p.Arg651Cys) rs765231471 0.00002
NM_001283009.2(RTEL1):c.2142-7C>G rs879582201 0.00002
NM_001283009.2(RTEL1):c.2413+5G>A rs750836127 0.00002
NM_001283009.2(RTEL1):c.2414-14G>A rs770111225 0.00002
NM_001283009.2(RTEL1):c.2512C>G (p.Leu838Val) rs996529824 0.00002
NM_001283009.2(RTEL1):c.2530C>T (p.Arg844Trp) rs368297230 0.00002
NM_001283009.2(RTEL1):c.2531G>A (p.Arg844Gln) rs758245234 0.00002
NM_001283009.2(RTEL1):c.2638C>G (p.Leu880Val) rs376204071 0.00002
NM_001283009.2(RTEL1):c.2652G>A (p.Pro884=) rs201784607 0.00002
NM_001283009.2(RTEL1):c.2753C>T (p.Ala918Val) rs1234595238 0.00002
NM_001283009.2(RTEL1):c.3002C>T (p.Ala1001Val) rs150072861 0.00002
NM_001283009.2(RTEL1):c.3089C>T (p.Ser1030Leu) rs756579704 0.00002
NM_001283009.2(RTEL1):c.3202C>T (p.Arg1068Cys) rs762640318 0.00002
NM_001283009.2(RTEL1):c.350C>T (p.Ser117Leu) rs372278974 0.00002
NM_001283009.2(RTEL1):c.3701C>T (p.Pro1234Leu) rs537878959 0.00002
NM_001283009.2(RTEL1):c.3712C>T (p.Leu1238Phe) rs765763485 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.3751G>A (p.Asp1251Asn) rs773592856 0.00002
NM_001283009.2(RTEL1):c.765+4A>G rs948594061 0.00002
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu) rs748022323 0.00002
NM_001283009.2(RTEL1):c.8A>C (p.Lys3Thr) rs779282812 0.00002
NM_001283009.2(RTEL1):c.940G>A (p.Asp314Asn) rs758615955 0.00002
NM_001283009.2(RTEL1):c.970C>T (p.Arg324Cys) rs771452777 0.00002
NM_002582.4(PARN):c.1031C>T (p.Ala344Val) rs374213957 0.00002
NM_002582.4(PARN):c.1171A>G (p.Ile391Val) rs765070513 0.00002
NM_002582.4(PARN):c.1250C>G (p.Pro417Arg) rs1451726091 0.00002
NM_002582.4(PARN):c.1458C>G (p.Ser486Arg) rs375177493 0.00002
NM_002582.4(PARN):c.1513C>T (p.Arg505Trp) rs375185166 0.00002
NM_002582.4(PARN):c.1768G>C (p.Glu590Gln) rs975097908 0.00002
NM_002582.4(PARN):c.1842G>A (p.Met614Ile) rs913617123 0.00002
NM_002582.4(PARN):c.271T>A (p.Tyr91Asn) rs764315291 0.00002
NM_002582.4(PARN):c.34C>T (p.Leu12Phe) rs777848795 0.00002
NM_002582.4(PARN):c.458C>T (p.Ala153Val) rs371072064 0.00002
NM_002582.4(PARN):c.55A>G (p.Ile19Val) rs367979521 0.00002
NM_002582.4(PARN):c.665C>T (p.Pro222Leu) rs770353163 0.00002
NM_002582.4(PARN):c.710G>A (p.Arg237Gln) rs376992177 0.00002
NM_002582.4(PARN):c.902A>G (p.Tyr301Cys) rs942688617 0.00002
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743 0.00002
NM_004990.4(MARS1):c.1201G>A (p.Val401Met) rs774447812 0.00002
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809 0.00002
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp) rs754546247 0.00002
NM_004990.4(MARS1):c.201-3C>T rs374880860 0.00002
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) rs770756933 0.00002
NM_004990.4(MARS1):c.2285C>T (p.Thr762Met) rs776051748 0.00002
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944 0.00002
NM_004990.4(MARS1):c.2384T>C (p.Ile795Thr) rs758314169 0.00002
NM_004990.4(MARS1):c.2447G>A (p.Arg816His) rs150482634 0.00002
NM_004990.4(MARS1):c.244A>C (p.Asn82His) rs758051760 0.00002
NM_004990.4(MARS1):c.2471C>T (p.Thr824Met) rs759262797 0.00002
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259 0.00002
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter) rs958058841 0.00002
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser) rs750309467 0.00002
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln) rs376785642 0.00002
NM_172245.4(CSF2RA):c.1148C>T (p.Pro383Leu) rs765802143 0.00002
NM_172245.4(CSF2RA):c.1156G>A (p.Gly386Arg) rs772019564 0.00002
NM_172245.4(CSF2RA):c.163A>G (p.Thr55Ala) rs759542097 0.00002
NM_172245.4(CSF2RA):c.250C>T (p.Arg84Cys) rs758063598 0.00002
NM_172245.4(CSF2RA):c.416C>T (p.Ala139Val) rs777638014 0.00002
NM_172245.4(CSF2RA):c.436C>T (p.Arg146Cys) rs202122189 0.00002
NM_172245.4(CSF2RA):c.719C>T (p.Pro240Leu) rs762456506 0.00002
NM_172245.4(CSF2RA):c.797C>T (p.Thr266Met) rs760548109 0.00002
NM_198253.3(TERT):c.1130G>A (p.Arg377His) rs756954938 0.00002
NM_198253.3(TERT):c.146C>G (p.Ala49Gly) rs1060503013 0.00002
NM_198253.3(TERT):c.1590G>A (p.Pro530=) rs1396912668 0.00002
NM_198253.3(TERT):c.2444A>G (p.His815Arg) rs771392980 0.00002
NM_198253.3(TERT):c.2908A>C (p.Met970Leu) rs762647113 0.00002
NM_198253.3(TERT):c.2971-3T>C rs765078035 0.00002
NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys) rs1042447238 0.00002
NM_198253.3(TERT):c.3349G>T (p.Ala1117Ser) rs749874887 0.00002
NM_198253.3(TERT):c.550G>A (p.Ala184Thr) rs773758089 0.00002
NM_198253.3(TERT):c.592G>A (p.Gly198Arg) rs758442518 0.00002
NM_198253.3(TERT):c.619G>A (p.Val207Ile) rs943176303 0.00002
NM_198253.3(TERT):c.718C>A (p.Arg240Ser) rs1252662816 0.00002
NM_198253.3(TERT):c.724G>C (p.Ala242Pro) rs766054124 0.00002
NC_000012.11:g.57892346A>G rs766466297 0.00001
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys) rs768228172 0.00001
NM_000388.4(CASR):c.1027G>A (p.Val343Ile) rs767003690 0.00001
NM_000388.4(CASR):c.1028T>C (p.Val343Ala) rs750427763 0.00001
NM_000388.4(CASR):c.1075C>T (p.His359Tyr) rs1559959592 0.00001
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) rs1217895146 0.00001
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn) rs768952710 0.00001
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) rs760190284 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1146C>G (p.Asp382Glu) rs1386553525 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) rs1287075426 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1213G>A (p.Glu405Lys) rs868784672 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser) rs201520875 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys) rs1230573005 0.00001
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn) rs1471887387 0.00001
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp) rs141315218 0.00001
NM_000388.4(CASR):c.1377+5G>T rs2074639584 0.00001
NM_000388.4(CASR):c.1378G>A (p.Val460Ile) rs753189535 0.00001
NM_000388.4(CASR):c.1389C>A (p.His463Gln) rs201572629 0.00001
NM_000388.4(CASR):c.1407T>G (p.Phe469Leu) rs1468055232 0.00001
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) rs145042469 0.00001
NM_000388.4(CASR):c.1423G>A (p.Glu475Lys) rs1406184611 0.00001
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser) rs774174934 0.00001
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu) rs1206946808 0.00001
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe) rs202112921 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.151C>T (p.Leu51Phe) rs996249687 0.00001
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu) rs377233360 0.00001
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys) rs776534485 0.00001
NM_000388.4(CASR):c.1608+3A>G rs2074815932 0.00001
NM_000388.4(CASR):c.1609G>A (p.Val537Met) rs1250951106 0.00001
NM_000388.4(CASR):c.172G>C (p.Val58Leu) rs1161795745 0.00001
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp) rs2074921447 0.00001
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile) rs1348036340 0.00001
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala) rs199761731 0.00001
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe) rs201564925 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.185+4A>G rs1576852377 0.00001
NM_000388.4(CASR):c.185+5G>C rs554770681 0.00001
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln) rs779019180 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.1924A>G (p.Ile642Val) rs894717560 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys) rs1196241183 0.00001
NM_000388.4(CASR):c.2048C>T (p.Ala683Val) rs1449068520 0.00001
NM_000388.4(CASR):c.2102G>A (p.Arg701His) rs1284532044 0.00001
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala) rs1060502844 0.00001
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn) rs746383651 0.00001
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys) rs771601139 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2230T>C (p.Tyr744His) rs1328499732 0.00001
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr) rs562364178 0.00001
NM_000388.4(CASR):c.2239C>T (p.Pro747Ser) rs1576877692 0.00001
NM_000388.4(CASR):c.2258A>G (p.Asn753Ser) rs2074934867 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser) rs1479933693 0.00001
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser) rs777219967 0.00001
NM_000388.4(CASR):c.242T>C (p.Ile81Thr) rs2074562857 0.00001
NM_000388.4(CASR):c.249C>G (p.Ser83Arg) rs1262032476 0.00001
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623 0.00001
NM_000388.4(CASR):c.2563A>C (p.Asn855His) rs2074940790 0.00001
NM_000388.4(CASR):c.256G>T (p.Ala86Ser) rs1275539972 0.00001
NM_000388.4(CASR):c.2597G>A (p.Arg866His) rs387907401 0.00001
NM_000388.4(CASR):c.2635C>G (p.His879Asp) rs1553769153 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000388.4(CASR):c.2668C>T (p.Arg890Cys) rs548127959 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.2680G>T (p.Val894Phe) rs200883282 0.00001
NM_000388.4(CASR):c.2686C>G (p.Arg896Gly) rs749125441 0.00001
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu) rs121909269 0.00001
NM_000388.4(CASR):c.2695T>C (p.Ser899Pro) rs201919386 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe) rs1366210816 0.00001
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) rs751273631 0.00001
NM_000388.4(CASR):c.275C>T (p.Thr92Met) rs764023058 0.00001
NM_000388.4(CASR):c.2760C>G (p.Ser920Arg) rs749958063 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln) rs746005172 0.00001
NM_000388.4(CASR):c.2807T>A (p.Leu936Gln) rs1379368670 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro) rs750090767 0.00001
NM_000388.4(CASR):c.2849T>C (p.Leu950Pro) rs753866409 0.00001
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr) rs4987051 0.00001
NM_000388.4(CASR):c.2857C>G (p.Gln953Glu) rs542434118 0.00001
NM_000388.4(CASR):c.2871G>C (p.Gln957His) rs988523065 0.00001
NM_000388.4(CASR):c.2884T>C (p.Cys962Arg) rs758172766 0.00001
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn) rs1268294939 0.00001
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly) rs766653315 0.00001
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966 0.00001
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn) rs1436155766 0.00001
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala) rs1381478610 0.00001
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln) rs761030318 0.00001
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp) rs201739901 0.00001
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg) rs764032437 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser) rs557676527 0.00001
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) rs201923228 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.455C>T (p.Ala152Val) rs761519187 0.00001
NM_000388.4(CASR):c.492+6C>A rs765346357 0.00001
NM_000388.4(CASR):c.512G>C (p.Ser171Thr) rs1220477298 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) rs1064794824 0.00001
NM_000388.4(CASR):c.572A>G (p.Glu191Gly) rs772067555 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.656G>A (p.Gly219Glu) rs1237913277 0.00001
NM_000388.4(CASR):c.752A>G (p.Glu251Gly) rs140418347 0.00001
NM_000388.4(CASR):c.844G>A (p.Glu282Lys) rs1269873145 0.00001
NM_000388.4(CASR):c.846G>C (p.Glu282Asp) rs199729084 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.866C>T (p.Thr289Met) rs755840531 0.00001
NM_000388.4(CASR):c.921G>A (p.Met307Ile) rs751095642 0.00001
NM_000388.4(CASR):c.937G>A (p.Val313Met) rs200838528 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.970G>A (p.Ala324Thr) rs758569521 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr) rs144624998 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg) rs776759986 0.00001
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr) rs758811926 0.00001
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys) rs774190691 0.00001
NM_000543.5(SMPD1):c.1747T>G (p.Ser583Ala) rs748635475 0.00001
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr) rs375224040 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys) rs749595299 0.00001
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln) rs746421946 0.00001
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr) rs748936934 0.00001
NM_000543.5(SMPD1):c.820A>G (p.Met274Val) rs763437061 0.00001
NM_001283009.2(RTEL1):c.1058C>T (p.Ala353Val) rs762936013 0.00001
NM_001283009.2(RTEL1):c.1103C>T (p.Ser368Leu) rs765792997 0.00001
NM_001283009.2(RTEL1):c.1157C>T (p.Thr386Met) rs371141081 0.00001
NM_001283009.2(RTEL1):c.1183A>G (p.Ile395Val) rs1355147182 0.00001
NM_001283009.2(RTEL1):c.1216G>A (p.Glu406Lys) rs1417269541 0.00001
NM_001283009.2(RTEL1):c.1282G>A (p.Asp428Asn) rs758640195 0.00001
NM_001283009.2(RTEL1):c.1331C>G (p.Thr444Ser) rs763825991 0.00001
NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn) rs755129499 0.00001
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln) rs779873020 0.00001
NM_001283009.2(RTEL1):c.1381G>A (p.Gly461Ser) rs764665173 0.00001
NM_001283009.2(RTEL1):c.1414G>A (p.Val472Ile) rs941024707 0.00001
NM_001283009.2(RTEL1):c.1417C>T (p.Arg473Cys) rs1409999749 0.00001
NM_001283009.2(RTEL1):c.1460C>T (p.Ser487Phe) rs764219586 0.00001
NM_001283009.2(RTEL1):c.1546G>A (p.Val516Ile) rs748223349 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001283009.2(RTEL1):c.1691C>T (p.Pro564Leu) rs1189892333 0.00001
NM_001283009.2(RTEL1):c.1720C>T (p.Arg574Trp) rs1601164606 0.00001
NM_001283009.2(RTEL1):c.1742A>G (p.Lys581Arg) rs376161950 0.00001
NM_001283009.2(RTEL1):c.1751C>T (p.Ala584Val) rs779562019 0.00001
NM_001283009.2(RTEL1):c.1789A>G (p.Ser597Gly) rs774400247 0.00001
NM_001283009.2(RTEL1):c.179G>A (p.Arg60Gln) rs763415620 0.00001
NM_001283009.2(RTEL1):c.1862C>T (p.Ala621Val) rs535749230 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.1906A>G (p.Thr636Ala) rs749428089 0.00001
NM_001283009.2(RTEL1):c.1907C>T (p.Thr636Met) rs200847054 0.00001
NM_001283009.2(RTEL1):c.191G>A (p.Arg64Gln) rs146544609 0.00001
NM_001283009.2(RTEL1):c.1931C>T (p.Thr644Met) rs1258123825 0.00001
NM_001283009.2(RTEL1):c.1936C>T (p.Leu646Phe) rs1323023332 0.00001
NM_001283009.2(RTEL1):c.1952G>T (p.Arg651Leu) rs773159241 0.00001
NM_001283009.2(RTEL1):c.2020G>T (p.Gly674Cys) rs747831615 0.00001
NM_001283009.2(RTEL1):c.2023C>A (p.Gln675Lys) rs772605324 0.00001
NM_001283009.2(RTEL1):c.2090G>T (p.Arg697Leu) rs1176364985 0.00001
NM_001283009.2(RTEL1):c.2105G>A (p.Arg702His) rs1035926074 0.00001
NM_001283009.2(RTEL1):c.2140A>G (p.Arg714Gly) rs1156625021 0.00001
NM_001283009.2(RTEL1):c.2141+4C>T rs780002400 0.00001
NM_001283009.2(RTEL1):c.2155G>A (p.Asp719Asn) rs781231332 0.00001
NM_001283009.2(RTEL1):c.2158G>A (p.Ala720Thr) rs755928414 0.00001
NM_001283009.2(RTEL1):c.217G>T (p.Ala73Ser) rs774311444 0.00001
NM_001283009.2(RTEL1):c.2266-3C>T rs200536844 0.00001
NM_001283009.2(RTEL1):c.2297C>A (p.Pro766His) rs2090705111 0.00001
NM_001283009.2(RTEL1):c.230A>G (p.Gln77Arg) rs771462323 0.00001
NM_001283009.2(RTEL1):c.2336C>T (p.Ser779Leu) rs761805038 0.00001
NM_001283009.2(RTEL1):c.2438A>C (p.Glu813Ala) rs756711633 0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.2507C>G (p.Ala836Gly) rs761063091 0.00001
NM_001283009.2(RTEL1):c.2567G>C (p.Cys856Ser) rs1398820483 0.00001
NM_001283009.2(RTEL1):c.2568C>G (p.Cys856Trp) rs1465417616 0.00001
NM_001283009.2(RTEL1):c.2590G>A (p.Glu864Lys) rs369777001 0.00001
NM_001283009.2(RTEL1):c.2620G>A (p.Gly874Arg) rs781632993 0.00001
NM_001283009.2(RTEL1):c.2635C>T (p.Arg879Trp) rs142877871 0.00001
NM_001283009.2(RTEL1):c.2669G>A (p.Gly890Asp) rs1243516442 0.00001
NM_001283009.2(RTEL1):c.2672C>T (p.Ala891Val) rs761295679 0.00001
NM_001283009.2(RTEL1):c.2705C>G (p.Ala902Gly) rs1394884130 0.00001
NM_001283009.2(RTEL1):c.2728G>C (p.Ala910Pro) rs751106916 0.00001
NM_001283009.2(RTEL1):c.2731A>C (p.Asn911His) rs754727644 0.00001
NM_001283009.2(RTEL1):c.2733C>A (p.Asn911Lys) rs372027131 0.00001
NM_001283009.2(RTEL1):c.2736T>G (p.Phe912Leu) rs755652402 0.00001
NM_001283009.2(RTEL1):c.2776G>A (p.Asp926Asn) rs369357121 0.00001
NM_001283009.2(RTEL1):c.2788G>A (p.Ala930Thr) rs371721039 0.00001
NM_001283009.2(RTEL1):c.2789C>T (p.Ala930Val) rs745711145 0.00001
NM_001283009.2(RTEL1):c.2798C>T (p.Ala933Val) rs541761600 0.00001
NM_001283009.2(RTEL1):c.2801G>T (p.Cys934Phe) rs1263651818 0.00001
NM_001283009.2(RTEL1):c.2842C>G (p.Leu948Val) rs750311914 0.00001
NM_001283009.2(RTEL1):c.2852G>T (p.Gly951Val) rs925928624 0.00001
NM_001283009.2(RTEL1):c.2866G>C (p.Val956Leu) rs942820151 0.00001
NM_001283009.2(RTEL1):c.2870G>A (p.Arg957Gln) rs753270617 0.00001
NM_001283009.2(RTEL1):c.2923G>C (p.Gly975Arg) rs754293748 0.00001
NM_001283009.2(RTEL1):c.2939C>G (p.Pro980Arg) rs1340326956 0.00001
NM_001283009.2(RTEL1):c.2963A>G (p.Gln988Arg) rs1357930914 0.00001
NM_001283009.2(RTEL1):c.29C>T (p.Thr10Ile) rs751168157 0.00001
NM_001283009.2(RTEL1):c.3026C>T (p.Ser1009Phe) rs1026729377 0.00001
NM_001283009.2(RTEL1):c.3037G>A (p.Ala1013Thr) rs142568980 0.00001
NM_001283009.2(RTEL1):c.3073G>A (p.Gly1025Ser) rs1483445218 0.00001
NM_001283009.2(RTEL1):c.3082C>T (p.His1028Tyr) rs1368646805 0.00001
NM_001283009.2(RTEL1):c.3110-4C>G rs1417877726 0.00001
NM_001283009.2(RTEL1):c.3115C>T (p.Pro1039Ser) rs976592801 0.00001
NM_001283009.2(RTEL1):c.3148C>T (p.Pro1050Ser) rs368303890 0.00001
NM_001283009.2(RTEL1):c.3154G>A (p.Ala1052Thr) rs1266676069 0.00001
NM_001283009.2(RTEL1):c.3157G>C (p.Gly1053Arg) rs1321802859 0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr) rs773397014 0.00001
NM_001283009.2(RTEL1):c.3190C>G (p.Leu1064Val) rs373448481 0.00001
NM_001283009.2(RTEL1):c.3196G>A (p.Asp1066Asn) rs748671796 0.00001
NM_001283009.2(RTEL1):c.3220G>A (p.Ala1074Thr) rs780364760 0.00001
NM_001283009.2(RTEL1):c.3227G>A (p.Cys1076Tyr) rs781481182 0.00001
NM_001283009.2(RTEL1):c.3254C>T (p.Ala1085Val) rs771545243 0.00001
NM_001283009.2(RTEL1):c.3268G>A (p.Asp1090Asn) rs761447586 0.00001
NM_001283009.2(RTEL1):c.3301G>A (p.Ala1101Thr) rs746445840 0.00001
NM_001283009.2(RTEL1):c.3325G>A (p.Asp1109Asn) rs764303844 0.00001
NM_001283009.2(RTEL1):c.3329T>A (p.Phe1110Tyr) rs148621466 0.00001
NM_001283009.2(RTEL1):c.3332C>T (p.Pro1111Leu) rs746179380 0.00001
NM_001283009.2(RTEL1):c.3379C>T (p.Arg1127Cys) rs745614952 0.00001
NM_001283009.2(RTEL1):c.3380G>A (p.Arg1127His) rs771768208 0.00001
NM_001283009.2(RTEL1):c.3391A>T (p.Thr1131Ser) rs1471853155 0.00001
NM_001283009.2(RTEL1):c.3419A>T (p.Tyr1140Phe) rs200622914 0.00001
NM_001283009.2(RTEL1):c.3467C>T (p.Pro1156Leu) rs746759990 0.00001
NM_001283009.2(RTEL1):c.3523G>A (p.Gly1175Arg) rs769538947 0.00001
NM_001283009.2(RTEL1):c.3530C>T (p.Thr1177Ile) rs755098827 0.00001
NM_001283009.2(RTEL1):c.3536G>A (p.Ser1179Asn) rs1350306450 0.00001
NM_001283009.2(RTEL1):c.3594G>C (p.Glu1198Asp) rs1440306935 0.00001
NM_001283009.2(RTEL1):c.3640G>A (p.Ala1214Thr) rs1247941163 0.00001
NM_001283009.2(RTEL1):c.3672C>G (p.Asp1224Glu) rs779295227 0.00001
NM_001283009.2(RTEL1):c.3676G>A (p.Ala1226Thr) rs371373011 0.00001
NM_001283009.2(RTEL1):c.3790C>T (p.Arg1264Cys) rs761902346 0.00001
NM_001283009.2(RTEL1):c.3811C>T (p.Arg1271Trp) rs993254667 0.00001
NM_001283009.2(RTEL1):c.3812G>A (p.Arg1271Gln) rs754719045 0.00001
NM_001283009.2(RTEL1):c.3823-13G>A rs879061607 0.00001
NM_001283009.2(RTEL1):c.3823-3C>T rs1242643276 0.00001
NM_001283009.2(RTEL1):c.3853G>A (p.Ala1285Thr) rs760281201 0.00001
NM_001283009.2(RTEL1):c.3875T>G (p.Met1292Arg) rs2090967240 0.00001
NM_001283009.2(RTEL1):c.395G>A (p.Arg132Gln) rs762587175 0.00001
NM_001283009.2(RTEL1):c.396-31C>T rs562173928 0.00001
NM_001283009.2(RTEL1):c.436A>G (p.Ile146Val) rs1420390084 0.00001
NM_001283009.2(RTEL1):c.454A>G (p.Lys152Glu) rs1234907654 0.00001
NM_001283009.2(RTEL1):c.509G>A (p.Arg170His) rs750794827 0.00001
NM_001283009.2(RTEL1):c.532G>A (p.Val178Ile) rs184051277 0.00001
NM_001283009.2(RTEL1):c.533T>C (p.Val178Ala) rs199685200 0.00001
NM_001283009.2(RTEL1):c.563C>T (p.Ala188Val) rs1258972797 0.00001
NM_001283009.2(RTEL1):c.596A>G (p.Lys199Arg) rs1377331597 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001283009.2(RTEL1):c.658G>A (p.Asp220Asn) rs776356655 0.00001
NM_001283009.2(RTEL1):c.703C>T (p.Arg235Cys) rs866782181 0.00001
NM_001283009.2(RTEL1):c.739G>A (p.Val247Met) rs1194320122 0.00001
NM_001283009.2(RTEL1):c.773T>C (p.Met258Thr) rs1555901763 0.00001
NM_001283009.2(RTEL1):c.883C>A (p.Pro295Thr) rs755010352 0.00001
NM_001283009.2(RTEL1):c.905A>G (p.Asp302Gly) rs776979963 0.00001
NM_001283009.2(RTEL1):c.983C>G (p.Ala328Gly) rs561033103 0.00001
NM_002582.4(PARN):c.1019A>G (p.Asn340Ser) rs768793595 0.00001
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp) rs754368658 0.00001
NM_002582.4(PARN):c.104G>C (p.Ser35Thr) rs1972801342 0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser) rs757655633 0.00001
NM_002582.4(PARN):c.1090G>A (p.Glu364Lys) rs772109946 0.00001
NM_002582.4(PARN):c.1132G>A (p.Glu378Lys) rs761566642 0.00001
NM_002582.4(PARN):c.1262+6T>C rs1382552508 0.00001
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) rs777090017 0.00001
NM_002582.4(PARN):c.1277G>A (p.Arg426Lys) rs1267290979 0.00001
NM_002582.4(PARN):c.1331G>A (p.Arg444His) rs1171017864 0.00001
NM_002582.4(PARN):c.1381C>G (p.Leu461Val) rs1225884986 0.00001
NM_002582.4(PARN):c.1497A>C (p.Lys499Asn) rs1185388930 0.00001
NM_002582.4(PARN):c.1514G>A (p.Arg505Gln) rs760452316 0.00001
NM_002582.4(PARN):c.1531G>A (p.Glu511Lys) rs759381342 0.00001
NM_002582.4(PARN):c.1612C>T (p.Arg538Trp) rs183781022 0.00001
NM_002582.4(PARN):c.178-3C>T rs1394966197 0.00001
NM_002582.4(PARN):c.1783G>T (p.Asp595Tyr) rs767702074 0.00001
NM_002582.4(PARN):c.1835A>G (p.Lys612Arg) rs1361443338 0.00001
NM_002582.4(PARN):c.1870A>G (p.Ile624Val) rs535627250 0.00001
NM_002582.4(PARN):c.244_245+6dup rs1481415822 0.00001
NM_002582.4(PARN):c.250A>G (p.Ile84Val) rs1430004851 0.00001
NM_002582.4(PARN):c.281C>T (p.Pro94Leu) rs1972723198 0.00001
NM_002582.4(PARN):c.350C>G (p.Ala117Gly) rs1972010104 0.00001
NM_002582.4(PARN):c.449G>A (p.Arg150His) rs755153974 0.00001
NM_002582.4(PARN):c.494A>G (p.Asn165Ser) rs775164255 0.00001
NM_002582.4(PARN):c.496A>G (p.Thr166Ala) rs370388189 0.00001
NM_002582.4(PARN):c.515C>T (p.Thr172Met) rs201180499 0.00001
NM_002582.4(PARN):c.540_554+8dup rs755696071 0.00001
NM_002582.4(PARN):c.573A>T (p.Leu191Phe) rs765326441 0.00001
NM_002582.4(PARN):c.733G>A (p.Asp245Asn) rs1375796074 0.00001
NM_002582.4(PARN):c.746G>A (p.Arg249His) rs775658912 0.00001
NM_002582.4(PARN):c.76G>A (p.Ala26Thr) rs768398246 0.00001
NM_002582.4(PARN):c.853A>G (p.Ile285Val) rs376031010 0.00001
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser) rs746654999 0.00001
NM_004990.4(MARS1):c.1091+4A>G rs987991720 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_004990.4(MARS1):c.1162C>T (p.Arg388Ter) rs754698410 0.00001
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln) rs1280661109 0.00001
NM_004990.4(MARS1):c.1297C>T (p.Pro433Ser) rs1450179852 0.00001
NM_004990.4(MARS1):c.1309G>A (p.Val437Ile) rs1484877370 0.00001
NM_004990.4(MARS1):c.1318T>G (p.Ser440Ala) rs1359914043 0.00001
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723 0.00001
NM_004990.4(MARS1):c.1379G>A (p.Arg460Gln) rs750231101 0.00001
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568 0.00001
NM_004990.4(MARS1):c.1387G>T (p.Glu463Ter) rs1313001176 0.00001
NM_004990.4(MARS1):c.1422G>C (p.Trp474Cys) rs781462684 0.00001
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser) rs778085997 0.00001
NM_004990.4(MARS1):c.1445C>T (p.Thr482Ile) rs1173899198 0.00001
NM_004990.4(MARS1):c.1477C>T (p.Arg493Cys) rs747598332 0.00001
NM_004990.4(MARS1):c.1594T>A (p.Tyr532Asn) rs375218777 0.00001
NM_004990.4(MARS1):c.1772A>T (p.Asp591Val) rs775880924 0.00001
NM_004990.4(MARS1):c.1792C>T (p.Arg598Cys) rs764601965 0.00001
NM_004990.4(MARS1):c.1793G>A (p.Arg598His) rs749954063 0.00001
NM_004990.4(MARS1):c.1795G>A (p.Gly599Ser) rs765972233 0.00001
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718 0.00001
NM_004990.4(MARS1):c.188G>A (p.Ser63Asn) rs932854507 0.00001
NM_004990.4(MARS1):c.1931C>G (p.Ser644Cys) rs1276192658 0.00001
NM_004990.4(MARS1):c.1968-8C>T rs1209991469 0.00001
NM_004990.4(MARS1):c.1976T>C (p.Met659Thr) rs1156891377 0.00001
NM_004990.4(MARS1):c.2086C>T (p.Leu696Phe) rs1877703051 0.00001
NM_004990.4(MARS1):c.2098C>T (p.Arg700Trp) rs771306648 0.00001
NM_004990.4(MARS1):c.2104C>T (p.Arg702Trp) rs587777228 0.00001
NM_004990.4(MARS1):c.2132T>C (p.Ile711Thr) rs1051420158 0.00001
NM_004990.4(MARS1):c.2146A>G (p.Asn716Asp) rs1386767973 0.00001
NM_004990.4(MARS1):c.2153A>G (p.Tyr718Cys) rs769280984 0.00001
NM_004990.4(MARS1):c.2157T>G (p.Ile719Met) rs1877717622 0.00001
NM_004990.4(MARS1):c.2237T>G (p.Val746Gly) rs758918563 0.00001
NM_004990.4(MARS1):c.2290A>G (p.Ser764Gly) rs773571063 0.00001
NM_004990.4(MARS1):c.2318T>C (p.Leu773Pro) rs755480968 0.00001
NM_004990.4(MARS1):c.2347A>G (p.Thr783Ala) rs946923506 0.00001
NM_004990.4(MARS1):c.2381A>G (p.Gln794Arg) rs1489534290 0.00001
NM_004990.4(MARS1):c.2391+3A>G rs995030286 0.00001
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964 0.00001
NM_004990.4(MARS1):c.2521C>G (p.Gln841Glu) rs368995987 0.00001
NM_004990.4(MARS1):c.2612C>T (p.Ala871Val) rs370631429 0.00001
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219 0.00001
NM_004990.4(MARS1):c.2650G>A (p.Ala884Thr) rs778165066 0.00001
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081 0.00001
NM_004990.4(MARS1):c.2693A>C (p.Lys898Thr) rs28382854 0.00001
NM_004990.4(MARS1):c.2T>A (p.Met1Lys) rs760194380 0.00001
NM_004990.4(MARS1):c.303C>G (p.Tyr101Ter) rs912847491 0.00001
NM_004990.4(MARS1):c.323A>G (p.Lys108Arg) rs1037400402 0.00001
NM_004990.4(MARS1):c.328G>C (p.Gly110Arg) rs774655266 0.00001
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306 0.00001
NM_004990.4(MARS1):c.595C>T (p.Arg199Trp) rs776361792 0.00001
NM_004990.4(MARS1):c.631G>A (p.Ala211Thr) rs147034935 0.00001
NM_004990.4(MARS1):c.643G>A (p.Ala215Thr) rs187172640 0.00001
NM_004990.4(MARS1):c.653A>G (p.Asn218Ser) rs1875839426 0.00001
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser) rs1227531274 0.00001
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078 0.00001
NM_004990.4(MARS1):c.770T>C (p.Val257Ala) rs200308742 0.00001
NM_004990.4(MARS1):c.782C>T (p.Ala261Val) rs769280509 0.00001
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574 0.00001
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) rs773474721 0.00001
NM_172245.4(CSF2RA):c.1021G>A (p.Val341Ile) rs776273359 0.00001
NM_172245.4(CSF2RA):c.1027G>A (p.Gly343Ser) rs1186460962 0.00001
NM_172245.4(CSF2RA):c.1044-3C>G rs2083459431 0.00001
NM_172245.4(CSF2RA):c.1045T>C (p.Phe349Leu) rs1261417012 0.00001
NM_172245.4(CSF2RA):c.1055T>G (p.Ile352Arg) rs1310278957 0.00001
NM_172245.4(CSF2RA):c.1070C>T (p.Pro357Leu) rs770606889 0.00001
NM_172245.4(CSF2RA):c.1123G>A (p.Glu375Lys) rs200259335 0.00001
NM_172245.4(CSF2RA):c.1143C>G (p.Phe381Leu) rs202127578 0.00001
NM_172245.4(CSF2RA):c.131C>T (p.Thr44Met) rs746211899 0.00001
NM_172245.4(CSF2RA):c.144C>G (p.Ser48Arg) rs762604364 0.00001
NM_172245.4(CSF2RA):c.208G>A (p.Val70Met) rs747486085 0.00001
NM_172245.4(CSF2RA):c.343+5G>A rs1442528862 0.00001
NM_172245.4(CSF2RA):c.366G>C (p.Gln122His) rs769068799 0.00001
NM_172245.4(CSF2RA):c.442G>A (p.Val148Ile) rs201377602 0.00001
NM_172245.4(CSF2RA):c.599A>T (p.Glu200Val) rs1161675124 0.00001
NM_172245.4(CSF2RA):c.601A>C (p.Ile201Leu) rs762080666 0.00001
NM_172245.4(CSF2RA):c.615C>A (p.Phe205Leu) rs750757416 0.00001
NM_172245.4(CSF2RA):c.646+3G>A rs373500219 0.00001
NM_172245.4(CSF2RA):c.680G>A (p.Arg227His) rs761247845 0.00001
NM_172245.4(CSF2RA):c.700C>A (p.Leu234Ile) rs779711299 0.00001
NM_172245.4(CSF2RA):c.780+4G>A rs1467836447 0.00001
NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala) rs775114336 0.00001
NM_172245.4(CSF2RA):c.872A>G (p.Lys291Arg) rs1250271206 0.00001
NM_172245.4(CSF2RA):c.877A>C (p.Ser293Arg) rs200955947 0.00001
NM_172245.4(CSF2RA):c.904C>T (p.Arg302Cys) rs760925182 0.00001
NM_172245.4(CSF2RA):c.938T>A (p.Ile313Asn) rs373932512 0.00001
NM_172245.4(CSF2RA):c.952G>A (p.Asp318Asn) rs771210487 0.00001
NM_172245.4(CSF2RA):c.988C>T (p.Leu330Phe) rs769866070 0.00001
NM_198253.3(TERT):c.1013A>G (p.Lys338Arg) rs1393461978 0.00001
NM_198253.3(TERT):c.1028C>G (p.Pro343Arg) rs1233561979 0.00001
NM_198253.3(TERT):c.1073G>A (p.Arg358Gln) rs200191524 0.00001
NM_198253.3(TERT):c.1090A>G (p.Ile364Val) rs748699440 0.00001
NM_198253.3(TERT):c.1141C>G (p.Arg381Gly) rs573210043 0.00001
NM_198253.3(TERT):c.1208G>C (p.Cys403Ser) rs767558514 0.00001
NM_198253.3(TERT):c.1232C>T (p.Thr411Met) rs1262077490 0.00001
NM_198253.3(TERT):c.1253C>T (p.Ala418Val) rs1561213598 0.00001
NM_198253.3(TERT):c.1264G>A (p.Ala422Thr) rs1298013724 0.00001
NM_198253.3(TERT):c.1282C>T (p.Arg428Trp) rs1400139919 0.00001
NM_198253.3(TERT):c.1301C>T (p.Ser434Phe) rs1751138304 0.00001
NM_198253.3(TERT):c.1307C>T (p.Ala436Val) rs986886145 0.00001
NM_198253.3(TERT):c.1324G>A (p.Asp442Asn) rs780427764 0.00001
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_198253.3(TERT):c.1349A>G (p.Gln450Arg) rs1751132215 0.00001
NM_198253.3(TERT):c.146C>T (p.Ala49Val) rs1060503013 0.00001
NM_198253.3(TERT):c.1490T>G (p.Leu497Arg) rs1751116306 0.00001
NM_198253.3(TERT):c.1514T>A (p.Leu505Gln) rs1344847833 0.00001
NM_198253.3(TERT):c.1561C>T (p.Arg521Cys) rs1448835821 0.00001
NM_198253.3(TERT):c.1573+6G>T rs1561213199 0.00001
NM_198253.3(TERT):c.1589C>T (p.Pro530Leu) rs369539932 0.00001
NM_198253.3(TERT):c.1604G>A (p.Arg535His) rs768398955 0.00001
NM_198253.3(TERT):c.1609C>T (p.Arg537Cys) rs760352197 0.00001
NM_198253.3(TERT):c.1615G>A (p.Glu539Lys) rs1203927893 0.00001
NM_198253.3(TERT):c.1657G>A (p.Val553Ile) rs749051614 0.00001
NM_198253.3(TERT):c.1730G>A (p.Arg577Gln) rs1311034283 0.00001
NM_198253.3(TERT):c.1736G>T (p.Ser579Ile) rs1176093960 0.00001
NM_198253.3(TERT):c.1737T>A (p.Ser579Arg) rs1395379702 0.00001
NM_198253.3(TERT):c.175C>T (p.Pro59Ser) rs1446206464 0.00001
NM_198253.3(TERT):c.1779G>T (p.Leu593Phe) rs199585924 0.00001
NM_198253.3(TERT):c.1796G>A (p.Arg599Gln) rs372511089 0.00001
NM_198253.3(TERT):c.1805C>T (p.Ser602Leu) rs759017540 0.00001
NM_198253.3(TERT):c.1825C>T (p.His609Tyr) rs1263419082 0.00001
NM_198253.3(TERT):c.1880C>G (p.Pro627Arg) rs146439826 0.00001
NM_198253.3(TERT):c.188G>A (p.Arg63Gln) rs1336720402 0.00001
NM_198253.3(TERT):c.1904A>G (p.Asn635Ser) rs1749924823 0.00001
NM_198253.3(TERT):c.1907T>C (p.Met636Thr) rs1060503010 0.00001
NM_198253.3(TERT):c.1915G>A (p.Val639Ile) rs151121796 0.00001
NM_198253.3(TERT):c.1918G>A (p.Val640Met) rs765195721 0.00001
NM_198253.3(TERT):c.1924G>A (p.Ala642Thr) rs761603068 0.00001
NM_198253.3(TERT):c.2002G>A (p.Glu668Lys) rs1368095577 0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp) rs372140951 0.00001
NM_198253.3(TERT):c.2021G>A (p.Gly674Asp) rs1238092784 0.00001
NM_198253.3(TERT):c.2185A>G (p.Ile729Val) rs753929279 0.00001
NM_198253.3(TERT):c.2213C>T (p.Thr738Met) rs1749789095 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) rs1388515349 0.00001
NM_198253.3(TERT):c.2266C>T (p.Arg756Cys) rs754018580 0.00001
NM_198253.3(TERT):c.2267G>A (p.Arg756His) rs374206276 0.00001
NM_198253.3(TERT):c.2286C>T (p.His762=) rs768062052 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.2354C>T (p.Pro785Leu) rs483352771 0.00001
NM_198253.3(TERT):c.2360G>A (p.Arg787Lys) rs1202226678 0.00001
NM_198253.3(TERT):c.2411G>T (p.Gly804Val) rs1442845192 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_198253.3(TERT):c.2437A>G (p.Met813Val) rs1749002393 0.00001
NM_198253.3(TERT):c.2452G>A (p.Val818Met) rs1046621943 0.00001
NM_198253.3(TERT):c.2455C>T (p.Arg819Cys) rs746621306 0.00001
NM_198253.3(TERT):c.2456G>A (p.Arg819His) rs1343662571 0.00001
NM_198253.3(TERT):c.2476G>A (p.Val826Ile) rs1060503009 0.00001
NM_198253.3(TERT):c.2516C>T (p.Thr839Met) rs748503447 0.00001
NM_198253.3(TERT):c.2564C>T (p.Ala855Val) rs775014633 0.00001
NM_198253.3(TERT):c.260G>A (p.Arg87Lys) rs776383511 0.00001
NM_198253.3(TERT):c.2639C>T (p.Ala880Val) rs1748613384 0.00001
NM_198253.3(TERT):c.2644A>T (p.Thr882Ser) rs1263276346 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
NM_198253.3(TERT):c.2655G>C (p.Arg885Ser) rs754372863 0.00001
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) rs199422304 0.00001
NM_198253.3(TERT):c.2776G>A (p.Gly926Ser) rs547377569 0.00001
NM_198253.3(TERT):c.2831G>A (p.Ser944Asn) rs759314942 0.00001
NM_198253.3(TERT):c.2844C>G (p.Ser948Arg) rs34062885 0.00001
NM_198253.3(TERT):c.2905A>C (p.Asn969His) rs1748154333 0.00001
NM_198253.3(TERT):c.2914C>T (p.Arg972Cys) rs773537902 0.00001
NM_198253.3(TERT):c.2915G>A (p.Arg972His) rs1278994586 0.00001
NM_198253.3(TERT):c.2980C>T (p.Leu994Phe) rs866369624 0.00001
NM_198253.3(TERT):c.2987C>T (p.Thr996Met) rs1223394183 0.00001
NM_198253.3(TERT):c.3032+5G>A rs1187296169 0.00001
NM_198253.3(TERT):c.3101G>A (p.Arg1034His) rs62331332 0.00001
NM_198253.3(TERT):c.3103G>A (p.Val1035Ile) rs374968697 0.00001
NM_198253.3(TERT):c.3157+3A>T rs369807900 0.00001
NM_198253.3(TERT):c.316G>C (p.Gly106Arg) rs1751265277 0.00001
NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser) rs1478959357 0.00001
NM_198253.3(TERT):c.3208G>A (p.Val1070Met) rs1747569185 0.00001
NM_198253.3(TERT):c.3352G>A (p.Ala1118Thr) rs756628621 0.00001
NM_198253.3(TERT):c.358C>T (p.Arg120Cys) rs1436692848 0.00001
NM_198253.3(TERT):c.362G>A (p.Ser121Asn) rs1751257719 0.00001
NM_198253.3(TERT):c.404G>C (p.Gly135Ala) rs1414898591 0.00001
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248 0.00001
NM_198253.3(TERT):c.560C>G (p.Pro187Arg) rs906128293 0.00001
NM_198253.3(TERT):c.568G>A (p.Ala190Thr) rs377016753 0.00001
NM_198253.3(TERT):c.571A>G (p.Ser191Gly) rs1425605385 0.00001
NM_198253.3(TERT):c.601C>T (p.Arg201Trp) rs765833936 0.00001
NM_198253.3(TERT):c.670C>T (p.Arg224Cys) rs750497661 0.00001
NM_198253.3(TERT):c.689G>A (p.Arg230Gln) rs957794083 0.00001
NM_198253.3(TERT):c.708G>C (p.Lys236Asn) rs1250720718 0.00001
NM_198253.3(TERT):c.736C>T (p.Pro246Ser) rs1379205693 0.00001
NM_198253.3(TERT):c.746C>T (p.Thr249Met) rs1174718400 0.00001
NM_198253.3(TERT):c.751G>T (p.Val251Phe) rs776569822 0.00001
NM_198253.3(TERT):c.758A>G (p.Gln253Arg) rs1172617636 0.00001
NM_198253.3(TERT):c.760G>A (p.Gly254Arg) rs1439775799 0.00001
NM_198253.3(TERT):c.76A>G (p.Thr26Ala) rs1579599309 0.00001
NM_198253.3(TERT):c.770C>G (p.Ala257Gly) rs746814762 0.00001
NM_198253.3(TERT):c.800A>G (p.Asp267Gly) rs878855306 0.00001
NM_198253.3(TERT):c.814G>A (p.Val272Met) rs1751201506 0.00001
NM_198253.3(TERT):c.880C>T (p.His294Tyr) rs886059906 0.00001
NM_198253.3(TERT):c.881A>T (p.His294Leu) rs1240646657 0.00001
NM_198253.3(TERT):c.907C>A (p.His303Asn) rs376074999 0.00001
NM_198253.3(TERT):c.922C>G (p.Pro308Ala) rs753366759 0.00001
NM_198253.3(TERT):c.934C>T (p.Arg312Trp) rs760697425 0.00001
NM_198253.3(TERT):c.941C>G (p.Pro314Arg) rs1306142415 0.00001
NM_198253.3(TERT):c.944G>A (p.Arg315His) rs1369958224 0.00001
NM_198253.3(TERT):c.956C>T (p.Thr319Met) rs1213662764 0.00001
NM_198253.3(TERT):c.970G>A (p.Val324Met) rs878855307 0.00001
NM_198253.3(TERT):c.979G>C (p.Glu327Gln) rs371457181 0.00001
NM_198253.3(TERT):c.988C>A (p.His330Asn) rs1172004659 0.00001
NC_000003.11:g.(?_121489192)_(125313644_?)dup
NC_000003.11:g.(?_121973037)_(121973231_?)dup
NC_000003.12:g.(?_122254180)_(122285201_?)dup
NC_000005.10:g.(?_1253708)_(1258679_?)dup
NC_000005.10:g.(?_1253708)_(1272300_?)dup
NC_000005.10:g.(?_1253728)_(1253841_?)dup
NC_000005.10:g.(?_1253728)_(1255421_?)dup
NC_000005.10:g.(?_1258588)_(1295046_?)dup
NC_000005.10:g.(?_218349)_(1297373_?)dup
NC_000005.9:g.(?_1201766)_(1258794_?)dup
NC_000005.9:g.(?_1201766)_(1443312_?)dup
NC_000005.9:g.(?_1253833)_(1253956_?)dup
NC_000005.9:g.(?_1253833)_(1255536_?)dup
NC_000005.9:g.(?_1253833)_(1258784_?)dup
NC_000005.9:g.(?_1253833)_(1272405_?)dup
NC_000005.9:g.(?_1253833)_(1295114_?)dup
NC_000005.9:g.(?_1253833)_(1295161_?)dup
NC_000005.9:g.(?_1253837)_(1295110_?)dup
NC_000005.9:g.(?_1253843)_(1258784_?)dup
NC_000005.9:g.(?_1253843)_(1258794_?)dup
NC_000005.9:g.(?_1253843)_(1264717_?)dup
NC_000005.9:g.(?_1253843)_(1272405_?)dup
NC_000005.9:g.(?_1253843)_(1280463_?)dup
NC_000005.9:g.(?_1253843)_(1297488_?)dup
NC_000005.9:g.(?_1254473)_(1322087_?)dup
NC_000005.9:g.(?_1258693)_(1268768_?)dup
NC_000005.9:g.(?_1268615)_(1268768_?)del
NC_000005.9:g.(?_1271224)_(1297488_?)dup
NC_000005.9:g.(?_1278746)_(1297488_?)dup
NC_000005.9:g.(?_1293408)_(1443312_?)dup
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NC_000005.9:g.(?_893114)_(1272415_?)dup
NC_000011.9:g.(?_6411829)_(6415837_?)dup
NC_000012.11:g.(?_56711393)_(58190366_?)dup
NC_000012.11:g.(?_57881874)_(57884447_?)dup
NC_000012.11:g.(?_57883659)_(57884447_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)del
NC_000012.11:g.(?_57891920)_(57898102_?)dup
NC_000012.11:g.(?_57894084)_(57894325_?)del
NC_000012.11:g.(?_57897988)_(57898102_?)del
NC_000012.11:g.(?_57906514)_(57976962_?)dup
NC_000016.10:g.(?_14436697)_(14609143_?)dup
NC_000016.9:g.(?_14530574)_(14530649_?)dup
NC_000016.9:g.(?_14530574)_(14540958_?)dup
NC_000016.9:g.(?_14530574)_(14576704_?)dup
NC_000016.9:g.(?_14530574)_(14724045_?)dup
NC_000016.9:g.(?_14540725)_(14576704_?)dup
NC_000016.9:g.(?_14645858)_(14724045_?)dup
NC_000016.9:g.(?_14674711)_(14724002_?)dup
NC_000016.9:g.(?_14693751)_(14724045_?)dup
NC_000016.9:g.(?_14711427)_(14724045_?)dup
NC_000016.9:g.(?_14723944)_(14724045_?)dup
NC_000020.10:g.(?_61978090)_(62324656_?)dup
NC_000020.10:g.(?_62290736)_(62327158_?)dup
NC_000020.10:g.(?_62290756)_(62297442_?)dup
NC_000020.10:g.(?_62290756)_(62327211_?)dup
NC_000020.10:g.(?_62290756)_(62328484_?)dup
NC_000020.10:g.(?_62303889)_(62312092_?)del
NC_000020.10:g.(?_62325705)_(62329916_?)dup
NC_000020.10:g.(?_62325715)_(62326337_?)del
NC_000020.11:g.(?_63659403)_(63693293_?)dup
NC_000020.11:g.63692805GAG[1] rs2145445535
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1009G>T (p.Val337Phe) rs770237878
NM_000388.4(CASR):c.1010T>C (p.Val337Ala) rs2107632701
NM_000388.4(CASR):c.1012C>T (p.His338Tyr)
NM_000388.4(CASR):c.1016C>T (p.Pro339Leu) rs2074632633
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly) rs1060502853
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg)
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro) rs2074632920
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser)
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile) rs1390562571
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg)
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
NM_000388.4(CASR):c.1043C>T (p.Ala348Val) rs1576858988
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu) rs2107632802
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) rs1576859001
NM_000388.4(CASR):c.104G>A (p.Gly35Glu)
NM_000388.4(CASR):c.104G>C (p.Gly35Ala)
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg) rs2107632817
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala) rs1576859014
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg)
NM_000388.4(CASR):c.1076A>G (p.His359Arg) rs1576859031
NM_000388.4(CASR):c.1076A>T (p.His359Leu) rs1576859031
NM_000388.4(CASR):c.1078C>T (p.Leu360Phe)
NM_000388.4(CASR):c.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1084G>A (p.Glu362Lys) rs2107632864
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.1088G>A (p.Gly363Asp) rs2074633801
NM_000388.4(CASR):c.1096G>A (p.Gly366Arg) rs2074633882
NM_000388.4(CASR):c.10T>C (p.Tyr4His) rs1559955224
NM_000388.4(CASR):c.1100C>A (p.Pro367His)
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu)
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser) rs1576859083
NM_000388.4(CASR):c.1105C>T (p.Pro369Ser) rs1217895146
NM_000388.4(CASR):c.1108G>A (p.Val370Met) rs2074634164
NM_000388.4(CASR):c.1108G>C (p.Val370Leu)
NM_000388.4(CASR):c.1109T>C (p.Val370Ala)
NM_000388.4(CASR):c.110T>C (p.Leu37Pro)
NM_000388.4(CASR):c.1114A>C (p.Thr372Pro) rs571007208
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) rs2074634402
NM_000388.4(CASR):c.1115C>T (p.Thr372Ile) rs2074634402
NM_000388.4(CASR):c.1124G>C (p.Arg375Thr)
NM_000388.4(CASR):c.1124G>T (p.Arg375Ile) rs760190284
NM_000388.4(CASR):c.1126G>A (p.Gly376Ser) rs2107632942
NM_000388.4(CASR):c.1127G>A (p.Gly376Asp)
NM_000388.4(CASR):c.1127G>T (p.Gly376Val) rs2074634579
NM_000388.4(CASR):c.1135G>A (p.Glu379Lys) rs1189291559
NM_000388.4(CASR):c.1138A>G (p.Ser380Gly) rs2074634758
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr)
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly)
NM_000388.4(CASR):c.114T>A (p.Phe38Leu)
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) rs1553766867
NM_000388.4(CASR):c.1155C>A (p.Ser385Arg)
NM_000388.4(CASR):c.1156A>C (p.Asn386His) rs2107632989
NM_000388.4(CASR):c.115C>T (p.Pro39Ser) rs121909262
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1165A>G (p.Thr389Ala)
NM_000388.4(CASR):c.1166C>G (p.Thr389Arg) rs2107633014
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr) rs202228006
NM_000388.4(CASR):c.1169C>A (p.Ala390Asp) rs757533550
NM_000388.4(CASR):c.1169C>G (p.Ala390Gly) rs757533550
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser) rs2074635544
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu) rs1287075426
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr) rs2107633043
NM_000388.4(CASR):c.1180C>G (p.Leu394Val) rs1559959773
NM_000388.4(CASR):c.1180C>T (p.Leu394Phe) rs1559959773
NM_000388.4(CASR):c.1181T>A (p.Leu394His) rs2107633055
NM_000388.4(CASR):c.1187C>G (p.Thr396Arg) rs1576859271
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu) rs1210105383
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr) rs201177696
NM_000388.4(CASR):c.1193A>T (p.Asp398Val)
NM_000388.4(CASR):c.1198A>G (p.Asn400Asp)
NM_000388.4(CASR):c.1198A>T (p.Asn400Tyr)
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) rs576643925
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.1204A>G (p.Ser402Gly)
NM_000388.4(CASR):c.1205G>A (p.Ser402Asn) rs2074636407
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg) rs755403770
NM_000388.4(CASR):c.1207A>C (p.Ser403Arg) rs779219555
NM_000388.4(CASR):c.1209T>G (p.Ser403Arg) rs387907400
NM_000388.4(CASR):c.1211T>G (p.Val404Gly) rs2074636577
NM_000388.4(CASR):c.1214A>G (p.Glu405Gly) rs2074636705
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala) rs977386230
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1225A>G (p.Ile409Val) rs1576859345
NM_000388.4(CASR):c.1226T>C (p.Ile409Thr)
NM_000388.4(CASR):c.1231T>A (p.Tyr411Asn)
NM_000388.4(CASR):c.1231T>G (p.Tyr411Asp)
NM_000388.4(CASR):c.1232A>G (p.Tyr411Cys)
NM_000388.4(CASR):c.1237C>T (p.His413Tyr) rs2107633148
NM_000388.4(CASR):c.1238A>T (p.His413Leu) rs1553766896
NM_000388.4(CASR):c.1243C>T (p.Arg415Trp)
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1256A>G (p.Asn419Ser)
NM_000388.4(CASR):c.1259T>A (p.Val420Glu)
NM_000388.4(CASR):c.125T>C (p.Phe42Ser) rs1553765909
NM_000388.4(CASR):c.1264T>G (p.Leu422Val)
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr) rs2074637455
NM_000388.4(CASR):c.1268_1270del (p.Ala423del)
NM_000388.4(CASR):c.1271T>G (p.Val424Gly)
NM_000388.4(CASR):c.1277C>T (p.Ser426Phe)
NM_000388.4(CASR):c.1279A>G (p.Ile427Val) rs2074637558
NM_000388.4(CASR):c.127G>A (p.Gly43Arg) rs866899753
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr) rs1553766906
NM_000388.4(CASR):c.1286A>G (p.His429Arg)
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) rs201520875
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
NM_000388.4(CASR):c.1299T>G (p.Asp433Glu)
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr) rs1375250506
NM_000388.4(CASR):c.1302A>G (p.Ile434Met) rs2074638026
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe) rs1553766913
NM_000388.4(CASR):c.1309T>A (p.Cys437Ser) rs1559959958
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1316C>A (p.Pro439His) rs2074638314
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg)
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu)
NM_000388.4(CASR):c.131T>A (p.Val44Glu) rs2074530498
NM_000388.4(CASR):c.1324G>C (p.Gly442Arg)
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe) rs267599574
NM_000388.4(CASR):c.1328T>C (p.Leu443Pro) rs2107633278
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys)
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro)
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile) rs1471887387
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) rs1553766925
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.134C>T (p.Ala45Val) rs779995504
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr) rs540006567
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)
NM_000388.4(CASR):c.1363G>C (p.Val455Leu) rs2107633315
NM_000388.4(CASR):c.1364T>C (p.Val455Ala) rs2107633318
NM_000388.4(CASR):c.1370C>T (p.Ala457Val) rs1553766930
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys) rs2074639368
NM_000388.4(CASR):c.1377+3G>A rs199824580
NM_000388.4(CASR):c.1377+4C>G rs1445251048
NM_000388.4(CASR):c.1377+4C>T rs1445251048
NM_000388.4(CASR):c.1377G>T (p.Gln459His)
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln) rs1553768082
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro) rs1553768082
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg)
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)
NM_000388.4(CASR):c.1402A>C (p.Asn468His) rs2074810921
NM_000388.4(CASR):c.1405T>G (p.Phe469Val)
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) rs1376231303
NM_000388.4(CASR):c.1408A>T (p.Thr470Ser) rs2074811205
NM_000388.4(CASR):c.1415A>C (p.Asn472Thr)
NM_000388.4(CASR):c.1417A>G (p.Met473Val) rs2074811389
NM_000388.4(CASR):c.1418T>C (p.Met473Thr) rs2074811449
NM_000388.4(CASR):c.1418T>G (p.Met473Arg)
NM_000388.4(CASR):c.1419G>A (p.Met473Ile) rs1559965073
NM_000388.4(CASR):c.1420G>A (p.Gly474Arg) rs2107643437
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln) rs1406184611
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1429G>A (p.Val477Met) rs1416680566
NM_000388.4(CASR):c.142G>A (p.Asp48Asn)
NM_000388.4(CASR):c.1439A>T (p.Asp480Val) rs2074811961
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu)
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) rs774174934
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe)
NM_000388.4(CASR):c.1448G>C (p.Gly483Ala)
NM_000388.4(CASR):c.145C>G (p.Gln49Glu) rs1553765913
NM_000388.4(CASR):c.1463A>T (p.Asn488Ile) rs146739893
NM_000388.4(CASR):c.1468T>C (p.Ser490Pro)
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr) rs140347078
NM_000388.4(CASR):c.1483C>T (p.His495Tyr)
NM_000388.4(CASR):c.1486C>T (p.Leu496Phe)
NM_000388.4(CASR):c.1487T>C (p.Leu496Pro) rs2107643566
NM_000388.4(CASR):c.1490C>A (p.Ser497Tyr)
NM_000388.4(CASR):c.1493C>A (p.Pro498Gln)
NM_000388.4(CASR):c.1495G>A (p.Glu499Lys) rs2107643577
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala) rs1471885969
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
NM_000388.4(CASR):c.1497G>C (p.Glu499Asp) rs2074813113
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.149A>G (p.Asp50Gly) rs1174370617
NM_000388.4(CASR):c.149A>T (p.Asp50Val) rs1174370617
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu) rs200240922
NM_000388.4(CASR):c.1505C>T (p.Ser502Phe) rs1576870394
NM_000388.4(CASR):c.1507A>G (p.Ile503Val) rs200910001
NM_000388.4(CASR):c.1509C>G (p.Ile503Met) rs757499017
NM_000388.4(CASR):c.1510G>C (p.Val504Leu) rs201536450
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu) rs2107643628
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr) rs750090892
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu) rs1060502845
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala)
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.1537G>A (p.Val513Ile) rs866241407
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
NM_000388.4(CASR):c.154A>G (p.Lys52Glu)
NM_000388.4(CASR):c.1550A>T (p.Lys517Met) rs2107643696
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg) rs2074814547
NM_000388.4(CASR):c.155A>G (p.Lys52Arg) rs1553765922
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
NM_000388.4(CASR):c.1561C>G (p.Leu521Val)
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe)
NM_000388.4(CASR):c.1564T>G (p.Phe522Val) rs746054548
NM_000388.4(CASR):c.1565T>C (p.Phe522Ser)
NM_000388.4(CASR):c.1565T>G (p.Phe522Cys)
NM_000388.4(CASR):c.1566C>A (p.Phe522Leu) rs769907714
NM_000388.4(CASR):c.1567A>G (p.Ile523Val) rs2107643730
NM_000388.4(CASR):c.1571A>G (p.Asn524Ser)
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala)
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly)
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys) rs201568219
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn) rs1553768128
NM_000388.4(CASR):c.1592G>A (p.Ser531Asn) rs764669682
NM_000388.4(CASR):c.1592G>C (p.Ser531Thr)
NM_000388.4(CASR):c.1598T>A (p.Phe533Tyr)
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser) rs2107643782
NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)
NM_000388.4(CASR):c.1601C>T (p.Ser534Phe)
NM_000388.4(CASR):c.1605G>T (p.Arg535Ser)
NM_000388.4(CASR):c.1606G>A (p.Glu536Lys)
NM_000388.4(CASR):c.1608+3A>C
NM_000388.4(CASR):c.1608+4G>T rs878853974
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.1609G>C (p.Val537Leu)
NM_000388.4(CASR):c.1610T>G (p.Val537Gly)
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr)
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) rs1057518409
NM_000388.4(CASR):c.1622A>C (p.Asn541Thr) rs201202700
NM_000388.4(CASR):c.1624_1626del (p.Cys542del) rs1060502846
NM_000388.4(CASR):c.1625G>A (p.Cys542Tyr)
NM_000388.4(CASR):c.1628G>C (p.Ser543Thr) rs1576875740
NM_000388.4(CASR):c.162G>C (p.Arg54Ser) rs2074531100
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr) rs2107648244
NM_000388.4(CASR):c.1637G>T (p.Cys546Phe) rs2107648244
NM_000388.4(CASR):c.163C>T (p.Pro55Ser)
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro) rs2074897267
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr) rs200647941
NM_000388.4(CASR):c.1642G>T (p.Ala548Ser) rs200647941
NM_000388.4(CASR):c.1643C>A (p.Ala548Glu)
NM_000388.4(CASR):c.1646G>A (p.Gly549Glu) rs2107648266
NM_000388.4(CASR):c.1658G>A (p.Gly553Glu)
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) rs1576875807
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe) rs2074897865
NM_000388.4(CASR):c.1661T>A (p.Ile554Asn)
NM_000388.4(CASR):c.1663A>G (p.Ile555Val) rs777646067
NM_000388.4(CASR):c.1666G>A (p.Glu556Lys)
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp) rs186279271
NM_000388.4(CASR):c.1669G>A (p.Gly557Arg) rs2107648307
NM_000388.4(CASR):c.1669G>T (p.Gly557Trp)
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1675C>A (p.Pro559Thr)
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn) rs768820665
NM_000388.4(CASR):c.1679C>T (p.Thr560Ile)
NM_000388.4(CASR):c.167A>T (p.Glu56Val) rs2107625061
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly) rs2074898625
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser) rs1553768731
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr) rs1553768736
NM_000388.4(CASR):c.1694G>T (p.Cys565Phe)
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys) rs868390788
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) rs1559955229
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly) rs1060502851
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr) rs2107648373
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser) rs1271168512
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln) rs2107648387
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn) rs2074899710
NM_000388.4(CASR):c.1725T>A (p.Asp575Glu)
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp) rs2074899858
NM_000388.4(CASR):c.1732+6G>A
NM_000388.4(CASR):c.1732+6G>T
NM_000388.4(CASR):c.1733-13G>A
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly) rs2107649336
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg)
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser) rs2074920846
NM_000388.4(CASR):c.1751A>C (p.Lys584Thr)
NM_000388.4(CASR):c.1753T>A (p.Cys585Ser)
NM_000388.4(CASR):c.1755C>G (p.Cys585Trp)
NM_000388.4(CASR):c.175G>A (p.Glu59Lys) rs2107625081
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu)
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe)
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile)
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys) rs2107649392
NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del)
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro) rs1553768903
NM_000388.4(CASR):c.1793G>A (p.Cys598Tyr) rs2107649418
NM_000388.4(CASR):c.1796T>C (p.Ile599Thr) rs2107649420
NM_000388.4(CASR):c.179G>T (p.Cys60Phe) rs772906030
NM_000388.4(CASR):c.1803G>C (p.Lys601Asn)
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro) rs2107649441
NM_000388.4(CASR):c.181A>C (p.Ile61Leu) rs2074531605
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg) rs2107649456
NM_000388.4(CASR):c.1824G>C (p.Trp608Cys)
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys) rs759904153
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg) rs759904153
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser)
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1841T>C (p.Ile614Thr)
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
NM_000388.4(CASR):c.1843G>T (p.Ala615Ser)
NM_000388.4(CASR):c.1844C>T (p.Ala615Val)
NM_000388.4(CASR):c.184A>C (p.Arg62=)
NM_000388.4(CASR):c.185+5_185+18del rs1576852370
NM_000388.4(CASR):c.1852C>G (p.Leu618Val) rs2074923685
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe)
NM_000388.4(CASR):c.185G>A (p.Arg62Lys)
NM_000388.4(CASR):c.186-13T>G
NM_000388.4(CASR):c.186-3C>T
NM_000388.4(CASR):c.1861G>C (p.Val621Leu)
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp) rs2107649545
NM_000388.4(CASR):c.1868G>C (p.Gly623Ala) rs2107649545
NM_000388.4(CASR):c.1868G>T (p.Gly623Val)
NM_000388.4(CASR):c.186G>A (p.Arg62=) rs1414007336
NM_000388.4(CASR):c.1876C>A (p.Leu626Met) rs2107649551
NM_000388.4(CASR):c.1880C>A (p.Thr627Lys) rs2074924073
NM_000388.4(CASR):c.1880C>T (p.Thr627Ile) rs2074924073
NM_000388.4(CASR):c.1888G>A (p.Val630Met) rs1559968392
NM_000388.4(CASR):c.1888G>C (p.Val630Leu) rs1559968392
NM_000388.4(CASR):c.1888G>T (p.Val630Leu)
NM_000388.4(CASR):c.188A>G (p.Tyr63Cys) rs1291192328
NM_000388.4(CASR):c.1891C>G (p.Leu631Val) rs755874864
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser) rs2074924501
NM_000388.4(CASR):c.1898T>A (p.Val633Glu)
NM_000388.4(CASR):c.1898T>G (p.Val633Gly)
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1903A>C (p.Ile635Leu) rs2074924739
NM_000388.4(CASR):c.1903A>G (p.Ile635Val) rs2074924739
NM_000388.4(CASR):c.1911C>G (p.Phe637Leu) rs2074924937
NM_000388.4(CASR):c.1913G>C (p.Arg638Pro)
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1916A>G (p.Asn639Ser) rs1559968444
NM_000388.4(CASR):c.1916A>T (p.Asn639Ile)
NM_000388.4(CASR):c.1918A>G (p.Thr640Ala)
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys) rs1559968450
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.1925T>C (p.Ile642Thr) rs2107649633
NM_000388.4(CASR):c.1927G>A (p.Val643Ile)
NM_000388.4(CASR):c.1927G>T (p.Val643Phe)
NM_000388.4(CASR):c.1936A>G (p.Thr646Ala) rs200113544
NM_000388.4(CASR):c.193T>A (p.Phe65Ile)
NM_000388.4(CASR):c.1941C>A (p.Asn647Lys)
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly)
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) rs1553768963
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) rs2107649656
NM_000388.4(CASR):c.1951T>C (p.Ser651Pro) rs2074926028
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr) rs2074926080
NM_000388.4(CASR):c.1952C>T (p.Ser651Phe) rs2074926080
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) rs1553768964
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe) rs1553768966
NM_000388.4(CASR):c.1963C>G (p.Leu655Val)
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu) rs2074926557
NM_000388.4(CASR):c.1972C>A (p.Leu658Met) rs201609857
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.1981T>A (p.Cys661Ser) rs2107649710
NM_000388.4(CASR):c.1984T>G (p.Phe662Val)
NM_000388.4(CASR):c.1985T>G (p.Phe662Cys)
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr) rs2074927053
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu) rs1576877276
NM_000388.4(CASR):c.1999TTC[1] (p.Phe668del) rs2074927295
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser) rs2074927361
NM_000388.4(CASR):c.2005A>C (p.Ile669Leu) rs1576877284
NM_000388.4(CASR):c.2005A>G (p.Ile669Val) rs1576877284
NM_000388.4(CASR):c.2006T>C (p.Ile669Thr) rs2107649763
NM_000388.4(CASR):c.2009G>T (p.Gly670Val) rs104893700
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.2014C>T (p.Pro672Ser) rs193922431
NM_000388.4(CASR):c.2015C>G (p.Pro672Arg) rs2107649789
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
NM_000388.4(CASR):c.2018A>G (p.Gln673Arg) rs1576877306
NM_000388.4(CASR):c.2019G>C (p.Gln673His) rs2107649800
NM_000388.4(CASR):c.2021A>T (p.Asp674Val) rs2107649801
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu) rs1576877311
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2025G>C (p.Trp675Cys)
NM_000388.4(CASR):c.2026A>T (p.Thr676Ser) rs2074927990
NM_000388.4(CASR):c.2027C>T (p.Thr676Met) rs768204447
NM_000388.4(CASR):c.2029T>C (p.Cys677Arg)
NM_000388.4(CASR):c.2033G>A (p.Arg678His) rs1278025825
NM_000388.4(CASR):c.2036T>C (p.Leu679Pro) rs1553768983
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)
NM_000388.4(CASR):c.2053G>A (p.Gly685Ser)
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.2054G>C (p.Gly685Ala) rs1576877377
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) rs2074930161
NM_000388.4(CASR):c.2063T>C (p.Phe688Ser)
NM_000388.4(CASR):c.2063T>G (p.Phe688Cys)
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu) rs150869744
NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met)
NM_000388.4(CASR):c.2065G>A (p.Val689Met) rs2107649885
NM_000388.4(CASR):c.2068C>T (p.Leu690Phe) rs1467832380
NM_000388.4(CASR):c.2072G>C (p.Cys691Ser)
NM_000388.4(CASR):c.2074A>G (p.Ile692Val)
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup) rs1553769002
NM_000388.4(CASR):c.2084T>C (p.Ile695Thr) rs2107649915
NM_000388.4(CASR):c.2085C>G (p.Ile695Met) rs2074930623
NM_000388.4(CASR):c.2087T>A (p.Leu696Gln) rs2107649925
NM_000388.4(CASR):c.2095A>C (p.Thr699Pro)
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.209G>C (p.Trp70Ser)
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr) rs2074528024
NM_000388.4(CASR):c.20G>C (p.Cys7Ser) rs2074528024
NM_000388.4(CASR):c.20G>T (p.Cys7Phe) rs2074528024
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2105T>C (p.Val702Ala) rs1559968643
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2114T>C (p.Val705Ala)
NM_000388.4(CASR):c.2114_2122del (p.Val705_Glu707del)
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000388.4(CASR):c.2130_2131delinsAA (p.Pro711Thr) rs2074931664
NM_000388.4(CASR):c.2131C>T (p.Pro711Ser)
NM_000388.4(CASR):c.2135C>G (p.Thr712Ser) rs746383651
NM_000388.4(CASR):c.2143C>A (p.His715Asn) rs2074932182
NM_000388.4(CASR):c.2143C>T (p.His715Tyr) rs2074932182
NM_000388.4(CASR):c.2146C>G (p.Arg716Gly) rs768333005
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys) rs768333005
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro) rs201670662
NM_000388.4(CASR):c.2151G>C (p.Lys717Asn)
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) rs961879608
NM_000388.4(CASR):c.2154G>C (p.Trp718Cys) rs2074932551
NM_000388.4(CASR):c.2158G>A (p.Gly720Arg) rs2074932631
NM_000388.4(CASR):c.2159G>A (p.Gly720Glu)
NM_000388.4(CASR):c.2168T>G (p.Leu723Arg) rs2107650069
NM_000388.4(CASR):c.2182G>A (p.Val728Ile) rs1576877587
NM_000388.4(CASR):c.2182G>C (p.Val728Leu) rs1576877587
NM_000388.4(CASR):c.2185T>C (p.Phe729Leu)
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe)
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser)
NM_000388.4(CASR):c.2194A>G (p.Thr732Ala) rs1576877607
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu) rs1576877611
NM_000388.4(CASR):c.2200A>T (p.Met734Leu) rs1286818613
NM_000388.4(CASR):c.2202G>A (p.Met734Ile) rs542541990
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro)
NM_000388.4(CASR):c.220A>G (p.Met74Val) rs745377913
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2215T>C (p.Cys739Arg)
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser) rs375468610
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe) rs751816764
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala) rs1576877692
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
NM_000388.4(CASR):c.2242C>T (p.Pro748Ser) rs2074934184
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) rs193922433
NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala) rs2107650178
NM_000388.4(CASR):c.2248A>G (p.Ser750Gly)
NM_000388.4(CASR):c.224T>C (p.Ile75Thr) rs2107627470
NM_000388.4(CASR):c.2250C>A (p.Ser750Arg) rs1559968879
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser) rs193922434
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly) rs193922434
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2255G>C (p.Arg752Pro) rs771529256
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) rs777361297
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly) rs2074935054
NM_000388.4(CASR):c.2269G>A (p.Glu757Lys) rs2074935149
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn)
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys)
NM_000388.4(CASR):c.2278A>G (p.Ile760Val) rs1453953571
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2280C>G (p.Ile760Met) rs1553769074
NM_000388.4(CASR):c.2281A>C (p.Ile761Leu)
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)
NM_000388.4(CASR):c.2282T>C (p.Ile761Thr)
NM_000388.4(CASR):c.2287A>C (p.Ile763Leu)
NM_000388.4(CASR):c.2288T>G (p.Ile763Ser)
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro) rs2074935297
NM_000388.4(CASR):c.2291C>T (p.Thr764Met)
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000388.4(CASR):c.2296C>A (p.His766Asn) rs776652154
NM_000388.4(CASR):c.2296C>T (p.His766Tyr) rs776652154
NM_000388.4(CASR):c.2298C>G (p.His766Gln)
NM_000388.4(CASR):c.229G>T (p.Ala77Ser) rs2074562595
NM_000388.4(CASR):c.2300A>C (p.Glu767Ala) rs2107650290
NM_000388.4(CASR):c.2303G>A (p.Gly768Asp)
NM_000388.4(CASR):c.2315C>T (p.Ala772Val) rs1336598166
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
NM_000388.4(CASR):c.2323T>G (p.Phe775Val)
NM_000388.4(CASR):c.2324T>C (p.Phe775Ser)
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu) rs767586088
NM_000388.4(CASR):c.2329A>C (p.Ile777Leu) rs2074936383
NM_000388.4(CASR):c.2330T>C (p.Ile777Thr)
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2332G>T (p.Gly778Cys)
NM_000388.4(CASR):c.2333G>A (p.Gly778Asp) rs2074936560
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.233T>C (p.Ile78Thr) rs2074562667
NM_000388.4(CASR):c.2341T>A (p.Cys781Ser) rs2107650358
NM_000388.4(CASR):c.235G>A (p.Glu79Lys) rs2074562715
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser)
NM_000388.4(CASR):c.2366T>C (p.Phe789Ser)
NM_000388.4(CASR):c.2368T>C (p.Phe790Leu)
NM_000388.4(CASR):c.2369T>G (p.Phe790Cys)
NM_000388.4(CASR):c.2370T>G (p.Phe790Leu)
NM_000388.4(CASR):c.2378A>T (p.Lys793Met)
NM_000388.4(CASR):c.237G>C (p.Glu79Asp) rs2074562746
NM_000388.4(CASR):c.2380T>A (p.Ser794Thr)
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)
NM_000388.4(CASR):c.2383C>G (p.Arg795Gly) rs121909258
NM_000388.4(CASR):c.2384G>A (p.Arg795Gln)
NM_000388.4(CASR):c.2384G>C (p.Arg795Pro)
NM_000388.4(CASR):c.2389C>A (p.Leu797Met) rs866506433
NM_000388.4(CASR):c.238G>C (p.Glu80Gln)
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg) rs1060502856
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) rs752953216
NM_000388.4(CASR):c.239A>C (p.Glu80Ala) rs1576854303
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp) rs2074937924
NM_000388.4(CASR):c.2410G>A (p.Ala804Thr) rs777219967
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg)
NM_000388.4(CASR):c.2417T>A (p.Phe806Tyr) rs104893693
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) rs104893693
NM_000388.4(CASR):c.2417T>G (p.Phe806Cys) rs104893693
NM_000388.4(CASR):c.2425T>A (p.Phe809Ile) rs2074938402
NM_000388.4(CASR):c.2429G>C (p.Ser810Thr)
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2434C>T (p.Leu812Phe) rs1385228926
NM_000388.4(CASR):c.2444T>C (p.Phe815Ser)
NM_000388.4(CASR):c.2446A>G (p.Ile816Val) rs2107650518
NM_000388.4(CASR):c.2447T>A (p.Ile816Asn)
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) rs781343891
NM_000388.4(CASR):c.2449G>C (p.Val817Leu) rs1057518933
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys)
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) rs2074939020
NM_000388.4(CASR):c.2461T>G (p.Phe821Val) rs2074939089
NM_000388.4(CASR):c.2464A>G (p.Ile822Val) rs2074939118
NM_000388.4(CASR):c.2467C>A (p.Pro823Thr)
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
NM_000388.4(CASR):c.246C>G (p.Asn82Lys)
NM_000388.4(CASR):c.2470G>A (p.Ala824Thr) rs2107650576
NM_000388.4(CASR):c.2470G>C (p.Ala824Pro)
NM_000388.4(CASR):c.2471C>G (p.Ala824Gly) rs2074939274
NM_000388.4(CASR):c.2471C>T (p.Ala824Val) rs2074939274
NM_000388.4(CASR):c.2474A>G (p.Tyr825Cys)
NM_000388.4(CASR):c.2477C>G (p.Ala826Gly) rs2074939465
NM_000388.4(CASR):c.2477C>T (p.Ala826Val) rs2074939465
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser) rs2107650603
NM_000388.4(CASR):c.2497G>C (p.Val833Leu) rs1187496835
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2503G>C (p.Ala835Pro) rs2074939751
NM_000388.4(CASR):c.2506G>A (p.Val836Ile)
NM_000388.4(CASR):c.2506G>C (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2509G>A (p.Glu837Lys)
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) rs1559956545
NM_000388.4(CASR):c.2511G>T (p.Glu837Asp)
NM_000388.4(CASR):c.2513T>C (p.Val838Ala)
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) rs1553769127
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe)
NM_000388.4(CASR):c.2522T>C (p.Ile841Thr)
NM_000388.4(CASR):c.2527G>A (p.Ala843Thr)
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr)
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg) rs1576878096
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn)
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser)
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro) rs2074940343
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) rs373819680
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2549C>T (p.Ala850Val)
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
NM_000388.4(CASR):c.2555T>A (p.Ile852Asn)
NM_000388.4(CASR):c.2559C>G (p.Phe853Leu) rs2074940685
NM_000388.4(CASR):c.2560T>A (p.Phe854Ile) rs565491972
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser) rs2074940832
NM_000388.4(CASR):c.2565C>G (p.Asn855Lys)
NM_000388.4(CASR):c.2568G>C (p.Lys856Asn)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2570T>G (p.Ile857Ser) rs766445416
NM_000388.4(CASR):c.2575A>C (p.Ile859Leu) rs1576878156
NM_000388.4(CASR):c.2575A>G (p.Ile859Val)
NM_000388.4(CASR):c.2576T>A (p.Ile859Asn) rs2107650756
NM_000388.4(CASR):c.2581C>G (p.Leu861Val) rs2074941334
NM_000388.4(CASR):c.2582T>C (p.Leu861Pro)
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys) rs2074941438
NM_000388.4(CASR):c.2594C>T (p.Ser865Phe) rs2074941438
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys) rs1576878170
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro) rs387907401
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu) rs1553769144
NM_000388.4(CASR):c.25G>T (p.Val9Phe)
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
NM_000388.4(CASR):c.2614G>A (p.Val872Met)
NM_000388.4(CASR):c.2617C>A (p.Arg873Ser)
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) rs2074941878
NM_000388.4(CASR):c.2618G>A (p.Arg873His)
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro) rs2107650838
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg) rs2107650843
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile) rs1576878212
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr) rs2107650865
NM_000388.4(CASR):c.2635C>T (p.His879Tyr)
NM_000388.4(CASR):c.2637C>A (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.263T>C (p.Leu88Pro)
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) rs1553769162
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser)
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.2659G>A (p.Ala887Thr)
NM_000388.4(CASR):c.265C>A (p.Pro89Thr) rs2074563203
NM_000388.4(CASR):c.2660C>A (p.Ala887Asp)
NM_000388.4(CASR):c.2663C>T (p.Thr888Met)
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs) rs1576878270
NM_000388.4(CASR):c.266C>G (p.Pro89Arg)
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys) rs1360294910
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) rs1553769171
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2686del (p.Arg896fs) rs193922438
NM_000388.4(CASR):c.2692C>T (p.Arg898Trp) rs747205055
NM_000388.4(CASR):c.2696C>G (p.Ser899Cys) rs2107651026
NM_000388.4(CASR):c.269A>G (p.Asn90Ser)
NM_000388.4(CASR):c.26T>A (p.Val9Asp)
NM_000388.4(CASR):c.2702G>A (p.Ser901Asn)
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg)
NM_000388.4(CASR):c.2713T>C (p.Ser905Pro) rs2107651054
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe) rs1559969541
NM_000388.4(CASR):c.2717C>A (p.Thr906Lys) rs200357435
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala) rs1559969557
NM_000388.4(CASR):c.2726C>A (p.Thr909Asn) rs201067523
NM_000388.4(CASR):c.2726C>G (p.Thr909Ser)
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile)
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg) rs1219288084
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer)
NM_000388.4(CASR):c.273G>C (p.Leu91Phe) rs2107627555
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn)
NM_000388.4(CASR):c.2741T>C (p.Ile914Thr) rs2074944863
NM_000388.4(CASR):c.2744G>C (p.Ser915Thr) rs2107651117
NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer)
NM_000388.4(CASR):c.2749A>G (p.Lys917Glu)
NM_000388.4(CASR):c.2750A>G (p.Lys917Arg)
NM_000388.4(CASR):c.2759G>A (p.Ser920Asn) rs767241288
NM_000388.4(CASR):c.2770T>C (p.Phe924Leu) rs778591886
NM_000388.4(CASR):c.2770T>G (p.Phe924Val)
NM_000388.4(CASR):c.2771T>C (p.Phe924Ser)
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) rs2107651172
NM_000388.4(CASR):c.2780C>T (p.Pro927Leu)
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup) rs1576878469
NM_000388.4(CASR):c.2783A>G (p.Glu928Gly)
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp)
NM_000388.4(CASR):c.2785A>G (p.Arg929Gly)
NM_000388.4(CASR):c.2788C>G (p.Gln930Glu) rs2074945839
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
NM_000388.4(CASR):c.2792AGC[6] (p.Gln934_Pro935insGlnGln)
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu) rs2107651215
NM_000388.4(CASR):c.2795A>C (p.Gln932Pro)
NM_000388.4(CASR):c.2801A>C (p.Gln934Pro)
NM_000388.4(CASR):c.2803C>T (p.Pro935Ser)
NM_000388.4(CASR):c.2804C>T (p.Pro935Leu) rs201950717
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2810C>T (p.Ala937Val)
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile) rs2074946372
NM_000388.4(CASR):c.2818C>T (p.Gln940Ter) rs1576878568
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) rs1576854356
NM_000388.4(CASR):c.2821C>G (p.Gln941Glu) rs2107651279
NM_000388.4(CASR):c.2825AGC[4] (p.Gln946del)
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup) rs747740545
NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln)
NM_000388.4(CASR):c.2826G>T (p.Glu942Asp) rs2107651299
NM_000388.4(CASR):c.2830C>A (p.Gln944Lys) rs2107651308
NM_000388.4(CASR):c.2830C>T (p.Gln944Ter)
NM_000388.4(CASR):c.2831A>G (p.Gln944Arg)
NM_000388.4(CASR):c.2833C>A (p.Gln945Lys) rs2107651317
NM_000388.4(CASR):c.2840C>A (p.Pro947His) rs767292478
NM_000388.4(CASR):c.2840_2860dup (p.Pro947_Gln953dup) rs2074946815
NM_000388.4(CASR):c.2842_2880dup (p.Leu948_Pro960dup) rs1559969726
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala)
NM_000388.4(CASR):c.2846C>A (p.Thr949Asn)
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys) rs1060502850
NM_000388.4(CASR):c.2852C>G (p.Pro951Arg)
NM_000388.4(CASR):c.2852C>T (p.Pro951Leu)
NM_000388.4(CASR):c.2863C>T (p.Arg955Ter) rs2074947445
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln) rs866599196
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala) rs1559969778
NM_000388.4(CASR):c.2867C>A (p.Ser956Tyr) rs2074947543
NM_000388.4(CASR):c.2870AGC[2] (p.Gln959del) rs2107651405
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys) rs2074947724
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys) rs2107651420
NM_000388.4(CASR):c.2877del (p.Gln959fs) rs2107651423
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly) rs2074947830
NM_000388.4(CASR):c.2885G>A (p.Cys962Tyr)
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg)
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs)
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) rs1060502859
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn)
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu) rs2074948026
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn) rs1251254766
NM_000388.4(CASR):c.28C>A (p.Leu10Ile) rs1327682547
NM_000388.4(CASR):c.28C>T (p.Leu10Phe) rs1327682547
NM_000388.4(CASR):c.2903T>C (p.Phe968Ser) rs2107651496
NM_000388.4(CASR):c.2904T>G (p.Phe968Leu)
NM_000388.4(CASR):c.2904_2924del (p.Gly969_Phe975del) rs2074948607
NM_000388.4(CASR):c.2905G>A (p.Gly969Ser)
NM_000388.4(CASR):c.2909G>A (p.Ser970Asn)
NM_000388.4(CASR):c.2915C>G (p.Thr972Arg)
NM_000388.4(CASR):c.291A>G (p.Ile97Met) rs1370844938
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr) rs2074563967
NM_000388.4(CASR):c.293T>C (p.Phe98Ser) rs2074563967
NM_000388.4(CASR):c.2941G>A (p.Glu981Lys)
NM_000388.4(CASR):c.2942A>T (p.Glu981Val) rs766653315
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr) rs387907395
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg)
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg) rs878853975
NM_000388.4(CASR):c.2949GAA[1] (p.Lys984del)
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) rs878853976
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg) rs1553769261
NM_000388.4(CASR):c.2952G>C (p.Lys984Asn)
NM_000388.4(CASR):c.2956G>A (p.Ala986Thr) rs1801725
NM_000388.4(CASR):c.2957C>A (p.Ala986Asp) rs1268409560
NM_000388.4(CASR):c.2959A>G (p.Met987Val) rs2107651596
NM_000388.4(CASR):c.2960T>G (p.Met987Arg) rs2074949750
NM_000388.4(CASR):c.2961G>A (p.Met987Ile)
NM_000388.4(CASR):c.2963C>T (p.Ala988Val)
NM_000388.4(CASR):c.296A>T (p.Asp99Val) rs2107627605
NM_000388.4(CASR):c.2971A>C (p.Asn991His) rs1553769276
NM_000388.4(CASR):c.2973T>A (p.Asn991Lys)
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.2981A>C (p.His994Pro)
NM_000388.4(CASR):c.2983C>A (p.Gln995Lys)
NM_000388.4(CASR):c.2985G>C (p.Gln995His) rs201341173
NM_000388.4(CASR):c.2986A>C (p.Asn996His) rs2074950435
NM_000388.4(CASR):c.298A>T (p.Thr100Ser) rs1433686492
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) rs1244383237
NM_000388.4(CASR):c.2990C>T (p.Ser997Phe)
NM_000388.4(CASR):c.2993T>A (p.Leu998Gln)
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys) rs2074950648
NM_000388.4(CASR):c.2996A>G (p.Glu999Gly) rs201052958
NM_000388.4(CASR):c.2996A>T (p.Glu999Val) rs201052958
NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr)
NM_000388.4(CASR):c.3001C>G (p.Gln1001Glu) rs756322971
NM_000388.4(CASR):c.3001C>T (p.Gln1001Ter)
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro) rs1176923284
NM_000388.4(CASR):c.3004A>C (p.Lys1002Gln) rs1467916973
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu) rs1467916973
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn) rs2074950882
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) rs780255825
NM_000388.4(CASR):c.3010A>T (p.Ser1004Cys) rs780255825
NM_000388.4(CASR):c.3013G>C (p.Asp1005His) rs201990892
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln) rs200238591
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly) rs1256856876
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.3029A>G (p.His1010Arg) rs547957679
NM_000388.4(CASR):c.302G>C (p.Cys101Ser)
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) rs386665242
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) rs763977493
NM_000388.4(CASR):c.3034C>G (p.Pro1012Ala)
NM_000388.4(CASR):c.3035C>A (p.Pro1012Gln) rs1576879134
NM_000388.4(CASR):c.303C>G (p.Cys101Trp)
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile) rs202219108
NM_000388.4(CASR):c.3044del (p.Pro1015fs) rs2074952162
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro) rs755151413
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro) rs779116209
NM_000388.4(CASR):c.3050A>G (p.Gln1017Arg)
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly)
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu)
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) rs1060502858
NM_000388.4(CASR):c.3058del (p.Glu1020fs)
NM_000388.4(CASR):c.3059A>C (p.Glu1020Ala)
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys) rs759009566
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg) rs759009566
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met) rs759009566
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.3069A>C (p.Leu1023Phe)
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr) rs2107651875
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val)
NM_000388.4(CASR):c.3082C>T (p.Gln1028Ter) rs1290267062
NM_000388.4(CASR):c.3082del (p.Gln1028fs) rs2107651889
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg) rs2074953171
NM_000388.4(CASR):c.3085G>A (p.Glu1029Lys) rs2107651900
NM_000388.4(CASR):c.3086A>C (p.Glu1029Ala) rs2107651904
NM_000388.4(CASR):c.3086A>G (p.Glu1029Gly)
NM_000388.4(CASR):c.3087A>T (p.Glu1029Asp) rs200786703
NM_000388.4(CASR):c.3088A>G (p.Thr1030Ala) rs2074953253
NM_000388.4(CASR):c.3088dup (p.Thr1030fs) rs2107651905
NM_000388.4(CASR):c.3089C>G (p.Thr1030Arg) rs2107651914
NM_000388.4(CASR):c.3089C>T (p.Thr1030Ile)
NM_000388.4(CASR):c.3100G>A (p.Gly1034Arg)
NM_000388.4(CASR):c.3104C>A (p.Pro1035His)
NM_000388.4(CASR):c.3106G>A (p.Val1036Met)
NM_000388.4(CASR):c.310G>A (p.Val104Ile) rs2074564250
NM_000388.4(CASR):c.3112G>T (p.Gly1038Ter) rs764032437
NM_000388.4(CASR):c.3118C>T (p.Gln1040Ter) rs1007139212
NM_000388.4(CASR):c.3120G>T (p.Gln1040His) rs2107651962
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln) rs761580803
NM_000388.4(CASR):c.3124C>G (p.Pro1042Ala) rs2074953862
NM_000388.4(CASR):c.3124C>T (p.Pro1042Ser) rs2074953862
NM_000388.4(CASR):c.3133G>A (p.Glu1045Lys) rs2074954067
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp) rs765519865
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) rs878853977
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys) rs758535387
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter) rs2107652017
NM_000388.4(CASR):c.3147G>T (p.Glu1049Asp)
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe) rs2107652019
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile) rs1245761983
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu) rs2074954670
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala)
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr) rs1553769334
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro)
NM_000388.4(CASR):c.316A>G (p.Lys106Glu)
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly) rs2074954886
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
NM_000388.4(CASR):c.3180G>C (p.Gln1060His) rs2107652073
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn) rs2074954983
NM_000388.4(CASR):c.3190A>G (p.Ile1064Val) rs2107652087
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn) rs999978032
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val) rs769439564
NM_000388.4(CASR):c.3199G>A (p.Gly1067Arg)
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu) rs2107652105
NM_000388.4(CASR):c.3203G>A (p.Gly1068Asp) rs1193543664
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)
NM_000388.4(CASR):c.3207del (p.Ser1069fs) rs2107652125
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile) rs1576879357
NM_000388.4(CASR):c.3215C>T (p.Thr1072Ile) rs2107652135
NM_000388.4(CASR):c.3221del (p.Asn1074fs) rs2074955500
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile) rs748855270
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) rs748855270
NM_000388.4(CASR):c.3224T>C (p.Val1075Ala) rs2107652158
NM_000388.4(CASR):c.323T>C (p.Leu108Ser) rs1553766242
NM_000388.4(CASR):c.328G>C (p.Ala110Pro)
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.329C>T (p.Ala110Val)
NM_000388.4(CASR):c.335T>C (p.Leu112Pro) rs2107627647
NM_000388.4(CASR):c.341T>C (p.Phe114Ser) rs1553766245
NM_000388.4(CASR):c.346G>C (p.Ala116Pro)
NM_000388.4(CASR):c.347C>G (p.Ala116Gly)
NM_000388.4(CASR):c.350A>C (p.Gln117Pro) rs2074564685
NM_000388.4(CASR):c.352A>G (p.Asn118Asp)
NM_000388.4(CASR):c.357A>C (p.Lys119Asn)
NM_000388.4(CASR):c.360T>G (p.Ile120Met) rs1576854465
NM_000388.4(CASR):c.361G>C (p.Asp121His) rs2074564785
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr) rs778201006
NM_000388.4(CASR):c.365C>T (p.Ser122Phe)
NM_000388.4(CASR):c.367T>A (p.Leu123Met) rs2107627702
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.375TGA[1] (p.Asp126del)
NM_000388.4(CASR):c.377A>T (p.Asp126Val) rs1553766257
NM_000388.4(CASR):c.382T>A (p.Phe128Ile) rs104893696
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_000388.4(CASR):c.394T>A (p.Ser132Thr)
NM_000388.4(CASR):c.395C>T (p.Ser132Leu) rs1060502857
NM_000388.4(CASR):c.399G>C (p.Glu133Asp)
NM_000388.4(CASR):c.400C>T (p.His134Tyr) rs2074565597
NM_000388.4(CASR):c.412A>G (p.Thr138Ala)
NM_000388.4(CASR):c.413C>G (p.Thr138Arg)
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.41C>A (p.Thr14Asn) rs1235999733
NM_000388.4(CASR):c.41C>T (p.Thr14Ile) rs1235999733
NM_000388.4(CASR):c.421G>A (p.Val141Met)
NM_000388.4(CASR):c.434C>T (p.Thr145Ile)
NM_000388.4(CASR):c.437G>A (p.Gly146Asp) rs2107627807
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
NM_000388.4(CASR):c.443G>A (p.Gly148Asp)
NM_000388.4(CASR):c.446T>C (p.Val149Ala)
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.457G>A (p.Val153Met)
NM_000388.4(CASR):c.458T>A (p.Val153Glu)
NM_000388.4(CASR):c.460G>A (p.Ala154Thr)
NM_000388.4(CASR):c.460G>C (p.Ala154Pro) rs1559956753
NM_000388.4(CASR):c.461C>A (p.Ala154Glu)
NM_000388.4(CASR):c.463A>G (p.Asn155Asp) rs1553766282
NM_000388.4(CASR):c.464A>T (p.Asn155Ile)
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) rs2107627878
NM_000388.4(CASR):c.46C>T (p.His16Tyr)
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) rs1553766286
NM_000388.4(CASR):c.473G>A (p.Gly158Glu) rs2074566747
NM_000388.4(CASR):c.475C>G (p.Leu159Val) rs767329910
NM_000388.4(CASR):c.479T>C (p.Phe160Ser) rs2074566896
NM_000388.4(CASR):c.484A>G (p.Ile162Val)
NM_000388.4(CASR):c.491A>G (p.Gln164Arg) rs2074567065
NM_000388.4(CASR):c.492+4C>T
NM_000388.4(CASR):c.492+6C>G
NM_000388.4(CASR):c.492+6C>T rs765346357
NM_000388.4(CASR):c.492G>A (p.Gln164=) rs2107627922
NM_000388.4(CASR):c.493-12G>A rs199514129
NM_000388.4(CASR):c.493G>A (p.Val165Ile)
NM_000388.4(CASR):c.496A>C (p.Ser166Arg) rs193922441
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.497G>A (p.Ser166Asn)
NM_000388.4(CASR):c.497G>T (p.Ser166Ile)
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp) rs1064795096
NM_000388.4(CASR):c.502G>T (p.Ala168Ser) rs1471755600
NM_000388.4(CASR):c.503C>A (p.Ala168Asp) rs1576857840
NM_000388.4(CASR):c.505T>C (p.Ser169Pro) rs1553766709
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) rs1060502862
NM_000388.4(CASR):c.50C>T (p.Thr17Ile) rs1424489717
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
NM_000388.4(CASR):c.523A>G (p.Ser175Gly) rs2107631742
NM_000388.4(CASR):c.524G>A (p.Ser175Asn)
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.528C>A (p.Asn176Lys) rs762352492
NM_000388.4(CASR):c.531G>T (p.Lys177Asn) rs2074621897
NM_000388.4(CASR):c.532A>T (p.Asn178Tyr) rs1060502855
NM_000388.4(CASR):c.534T>A (p.Asn178Lys)
NM_000388.4(CASR):c.536A>G (p.Gln179Arg) rs878928634
NM_000388.4(CASR):c.545C>A (p.Ser182Tyr)
NM_000388.4(CASR):c.545C>G (p.Ser182Cys)
NM_000388.4(CASR):c.545C>T (p.Ser182Phe) rs1576857952
NM_000388.4(CASR):c.549C>G (p.Phe183Leu) rs779857648
NM_000388.4(CASR):c.550C>G (p.Leu184Val) rs1576857982
NM_000388.4(CASR):c.550C>T (p.Leu184Phe) rs1576857982
NM_000388.4(CASR):c.551T>G (p.Leu184Arg)
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.55G>C (p.Ala19Pro) rs2074528751
NM_000388.4(CASR):c.560T>A (p.Ile187Asn)
NM_000388.4(CASR):c.560T>C (p.Ile187Thr)
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) rs778535491
NM_000388.4(CASR):c.565A>C (p.Asn189His) rs2107631843
NM_000388.4(CASR):c.566A>T (p.Asn189Ile) rs762998933
NM_000388.4(CASR):c.566_567delinsTC (p.Asn189Ile)
NM_000388.4(CASR):c.568G>A (p.Asp190Asn)
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)
NM_000388.4(CASR):c.56C>A (p.Ala19Asp)
NM_000388.4(CASR):c.574C>A (p.His192Asn) rs2107631878
NM_000388.4(CASR):c.576C>G (p.His192Gln)
NM_000388.4(CASR):c.577C>A (p.Gln193Lys)
NM_000388.4(CASR):c.587C>T (p.Ala196Val) rs1553766728
NM_000388.4(CASR):c.589A>C (p.Met197Leu)
NM_000388.4(CASR):c.590T>A (p.Met197Lys) rs774235352
NM_000388.4(CASR):c.590T>G (p.Met197Arg) rs774235352
NM_000388.4(CASR):c.591G>A (p.Met197Ile)
NM_000388.4(CASR):c.604G>A (p.Glu202Lys) rs1430623191
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000388.4(CASR):c.610T>C (p.Phe204Leu) rs1060499700
NM_000388.4(CASR):c.613C>G (p.Arg205Gly) rs775751453
NM_000388.4(CASR):c.614G>C (p.Arg205Pro) rs763162046
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) rs763162046
NM_000388.4(CASR):c.623G>C (p.Trp208Ser) rs2074623917
NM_000388.4(CASR):c.623_624delinsCT (p.Trp208Ser)
NM_000388.4(CASR):c.626T>C (p.Val209Ala)
NM_000388.4(CASR):c.628G>T (p.Gly210Cys) rs2107631971
NM_000388.4(CASR):c.632C>T (p.Thr211Ile) rs2074624103
NM_000388.4(CASR):c.634A>G (p.Ile212Val) rs2074624132
NM_000388.4(CASR):c.635T>C (p.Ile212Thr) rs1576858127
NM_000388.4(CASR):c.638C>T (p.Ala213Val) rs1559958979
NM_000388.4(CASR):c.641C>G (p.Ala214Gly)
NM_000388.4(CASR):c.643G>A (p.Asp215Asn)
NM_000388.4(CASR):c.646G>A (p.Asp216Asn) rs768766649
NM_000388.4(CASR):c.647A>C (p.Asp216Ala)
NM_000388.4(CASR):c.650A>G (p.Asp217Gly) rs886041155
NM_000388.4(CASR):c.652T>A (p.Tyr218Asn)
NM_000388.4(CASR):c.652T>C (p.Tyr218His) rs1057520583
NM_000388.4(CASR):c.655G>T (p.Gly219Trp) rs2107632049
NM_000388.4(CASR):c.659G>T (p.Arg220Leu)
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) rs397514728
NM_000388.4(CASR):c.665G>A (p.Gly222Glu)
NM_000388.4(CASR):c.672G>C (p.Glu224Asp)
NM_000388.4(CASR):c.67G>A (p.Asp23Asn) rs2107624826
NM_000388.4(CASR):c.686A>C (p.Glu229Ala) rs2074625376
NM_000388.4(CASR):c.688G>A (p.Ala230Thr)
NM_000388.4(CASR):c.689C>T (p.Ala230Val) rs2107632113
NM_000388.4(CASR):c.703A>G (p.Ile235Val) rs2107632125
NM_000388.4(CASR):c.706T>A (p.Cys236Ser)
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr) rs1057518616
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.712G>C (p.Asp238His) rs373376842
NM_000388.4(CASR):c.715T>G (p.Phe239Val)
NM_000388.4(CASR):c.718A>G (p.Ser240Gly) rs200878437
NM_000388.4(CASR):c.719G>C (p.Ser240Thr)
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) rs2107632158
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.727A>G (p.Ile243Val)
NM_000388.4(CASR):c.729C>G (p.Ile243Met)
NM_000388.4(CASR):c.72G>C (p.Gln24His)
NM_000388.4(CASR):c.740C>G (p.Ser247Cys)
NM_000388.4(CASR):c.746A>T (p.Glu249Val)
NM_000388.4(CASR):c.747_749del (p.Glu251del)
NM_000388.4(CASR):c.749A>G (p.Glu250Gly) rs1256348744
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.74G>T (p.Arg25Leu) rs568902441
NM_000388.4(CASR):c.751G>C (p.Glu251Gln) rs1060502854
NM_000388.4(CASR):c.753G>C (p.Glu251Asp) rs2074626568
NM_000388.4(CASR):c.754A>G (p.Ile252Val) rs2107632219
NM_000388.4(CASR):c.755T>A (p.Ile252Asn)
NM_000388.4(CASR):c.756C>G (p.Ile252Met)
NM_000388.4(CASR):c.758A>T (p.Gln253Leu)
NM_000388.4(CASR):c.766G>A (p.Val256Ile)
NM_000388.4(CASR):c.767T>C (p.Val256Ala) rs2074626876
NM_000388.4(CASR):c.778C>G (p.Gln260Glu) rs2074627053
NM_000388.4(CASR):c.782A>C (p.Asn261Thr) rs2074627203
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.791C>T (p.Ala264Val)
NM_000388.4(CASR):c.796G>A (p.Val266Ile) rs2074627422
NM_000388.4(CASR):c.797T>G (p.Val266Gly)
NM_000388.4(CASR):c.802G>A (p.Val268Met) rs2074627507
NM_000388.4(CASR):c.809T>A (p.Phe270Tyr)
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
NM_000388.4(CASR):c.814A>C (p.Ser272Arg)
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
NM_000388.4(CASR):c.815G>A (p.Ser272Asn) rs1576858432
NM_000388.4(CASR):c.816T>A (p.Ser272Arg) rs2107632311
NM_000388.4(CASR):c.818G>C (p.Gly273Ala) rs2074627937
NM_000388.4(CASR):c.820C>G (p.Pro274Ala)
NM_000388.4(CASR):c.820C>T (p.Pro274Ser)
NM_000388.4(CASR):c.821C>T (p.Pro274Leu) rs1005301601
NM_000388.4(CASR):c.826C>A (p.Leu276Ile)
NM_000388.4(CASR):c.831G>C (p.Glu277Asp)
NM_000388.4(CASR):c.832C>G (p.Pro278Ala)
NM_000388.4(CASR):c.833C>T (p.Pro278Leu)
NM_000388.4(CASR):c.835C>T (p.Leu279Phe)
NM_000388.4(CASR):c.836T>G (p.Leu279Arg) rs1553766796
NM_000388.4(CASR):c.839T>A (p.Ile280Asn) rs1559959234
NM_000388.4(CASR):c.850G>A (p.Val284Ile)
NM_000388.4(CASR):c.851T>C (p.Val284Ala)
NM_000388.4(CASR):c.853C>T (p.Arg285Trp) rs1553766800
NM_000388.4(CASR):c.856C>A (p.Arg286Ser)
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.857G>C (p.Arg286Pro) rs922511747
NM_000388.4(CASR):c.859A>C (p.Asn287His) rs2107632409
NM_000388.4(CASR):c.860A>G (p.Asn287Ser) rs2074629436
NM_000388.4(CASR):c.862A>G (p.Ile288Val) rs2107632419
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.866C>G (p.Thr289Arg) rs755840531
NM_000388.4(CASR):c.869G>A (p.Gly290Asp)
NM_000388.4(CASR):c.86A>G (p.Lys29Arg)
NM_000388.4(CASR):c.883G>A (p.Ala295Thr) rs1289972038
NM_000388.4(CASR):c.884C>G (p.Ala295Gly) rs1559959332
NM_000388.4(CASR):c.884C>T (p.Ala295Val)
NM_000388.4(CASR):c.888C>G (p.Ser296Arg)
NM_000388.4(CASR):c.889G>C (p.Glu297Gln) rs121909259
NM_000388.4(CASR):c.88G>C (p.Gly30Arg)
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889
NM_000388.4(CASR):c.902G>T (p.Ser301Ile)
NM_000388.4(CASR):c.904T>A (p.Ser302Thr) rs2074630497
NM_000388.4(CASR):c.905C>A (p.Ser302Tyr) rs2107632520
NM_000388.4(CASR):c.905C>G (p.Ser302Cys)
NM_000388.4(CASR):c.916G>A (p.Ala306Thr)
NM_000388.4(CASR):c.916G>C (p.Ala306Pro)
NM_000388.4(CASR):c.916G>T (p.Ala306Ser) rs2074630775
NM_000388.4(CASR):c.919A>G (p.Met307Val)
NM_000388.4(CASR):c.91G>C (p.Asp31His)
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.926A>C (p.Gln309Pro) rs1576858741
NM_000388.4(CASR):c.926A>T (p.Gln309Leu) rs1576858741
NM_000388.4(CASR):c.931T>G (p.Phe311Val) rs2107632568
NM_000388.4(CASR):c.936C>G (p.His312Gln) rs1356911586
NM_000388.4(CASR):c.938T>A (p.Val313Glu)
NM_000388.4(CASR):c.938T>C (p.Val313Ala)
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) rs1389231880
NM_000388.4(CASR):c.94A>G (p.Ile32Val) rs2074529687
NM_000388.4(CASR):c.94A>T (p.Ile32Phe) rs2074529687
NM_000388.4(CASR):c.952A>G (p.Ile318Val) rs779711318
NM_000388.4(CASR):c.953T>C (p.Ile318Thr) rs2107632605
NM_000388.4(CASR):c.955G>A (p.Gly319Arg)
NM_000388.4(CASR):c.956G>A (p.Gly319Glu) rs2107632608
NM_000388.4(CASR):c.961G>A (p.Ala321Thr) rs2074631702
NM_000388.4(CASR):c.961G>T (p.Ala321Ser)
NM_000388.4(CASR):c.965T>C (p.Leu322Pro)
NM_000388.4(CASR):c.968A>C (p.Lys323Thr) rs1382062409
NM_000388.4(CASR):c.970G>C (p.Ala324Pro)
NM_000388.4(CASR):c.971C>A (p.Ala324Asp)
NM_000388.4(CASR):c.971C>G (p.Ala324Gly)
NM_000388.4(CASR):c.973G>C (p.Gly325Arg) rs778100486
NM_000388.4(CASR):c.977A>T (p.Gln326Leu)
NM_000388.4(CASR):c.981C>G (p.Ile327Met) rs1240483254
NM_000388.4(CASR):c.986_994del (p.Gly329_Arg331del) rs2107632671
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) rs2074632178
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029
NM_000388.4(CASR):c.992G>C (p.Arg331Pro) rs747090029
NM_000388.4(CASR):c.992G>T (p.Arg331Leu)
NM_000388.4(CASR):c.994G>A (p.Glu332Lys)
NM_000388.4(CASR):c.995A>G (p.Glu332Gly)
NM_000388.4(CASR):c.9T>G (p.Phe3Leu) rs764556468
NM_000543.5(SMPD1):c.100G>A (p.Gly34Ser)
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His) rs200242334
NM_000543.5(SMPD1):c.1022G>C (p.Arg341Pro)
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala) rs771028947
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu) rs71467507
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val) rs71467507
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro) rs377609894
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu) rs377609894
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val) rs2134021009
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
NM_000543.5(SMPD1):c.1507G>A (p.Asp503Asn)
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) rs2134023371
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val) rs913533196
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp) rs2134006790
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr) rs1847903513
NM_000543.5(SMPD1):c.437_439del (p.Glu146del)
NM_000543.5(SMPD1):c.439G>A (p.Val147Met) rs936971458
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe) rs1215635747
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr) rs2134010893
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer) rs398123480
NM_001283009.2(RTEL1):c.1009G>T (p.Asp337Tyr)
NM_001283009.2(RTEL1):c.1016G>C (p.Ser339Thr)
NM_001283009.2(RTEL1):c.1017C>A (p.Ser339Arg)
NM_001283009.2(RTEL1):c.1019G>C (p.Gly340Ala)
NM_001283009.2(RTEL1):c.101_102+16dup rs1478655064
NM_001283009.2(RTEL1):c.1022T>C (p.Val341Ala)
NM_001283009.2(RTEL1):c.1030C>G (p.Pro344Ala)
NM_001283009.2(RTEL1):c.1030C>T (p.Pro344Ser) rs147789792
NM_001283009.2(RTEL1):c.1038-12T>C
NM_001283009.2(RTEL1):c.1038-5G>A
NM_001283009.2(RTEL1):c.1039T>C (p.Tyr347His)
NM_001283009.2(RTEL1):c.1040A>G (p.Tyr347Cys) rs769658909
NM_001283009.2(RTEL1):c.1060G>A (p.Glu354Lys)
NM_001283009.2(RTEL1):c.1068G>C (p.Gln356His)
NM_001283009.2(RTEL1):c.1071C>G (p.Ile357Met)
NM_001283009.2(RTEL1):c.1077T>G (p.Phe359Leu)
NM_001283009.2(RTEL1):c.1088G>A (p.Gly363Asp)
NM_001283009.2(RTEL1):c.110A>G (p.Asn37Ser)
NM_001283009.2(RTEL1):c.1111C>G (p.Gln371Glu)
NM_001283009.2(RTEL1):c.1123C>T (p.His375Tyr)
NM_001283009.2(RTEL1):c.1133G>A (p.Gly378Glu)
NM_001283009.2(RTEL1):c.1135+12C>T
NM_001283009.2(RTEL1):c.1139C>G (p.Ala380Gly)
NM_001283009.2(RTEL1):c.1139C>T (p.Ala380Val) rs770836729
NM_001283009.2(RTEL1):c.1144G>C (p.Val382Leu)
NM_001283009.2(RTEL1):c.1145T>C (p.Val382Ala)
NM_001283009.2(RTEL1):c.1149C>G (p.Phe383Leu)
NM_001283009.2(RTEL1):c.1159G>A (p.Ala387Thr) rs2146220003
NM_001283009.2(RTEL1):c.1191+4G>C
NM_001283009.2(RTEL1):c.1192-3C>T rs2145411176
NM_001283009.2(RTEL1):c.1201A>G (p.Ser401Gly)
NM_001283009.2(RTEL1):c.1201A>T (p.Ser401Cys)
NM_001283009.2(RTEL1):c.1209C>A (p.Asp403Glu) rs781077567
NM_001283009.2(RTEL1):c.1210C>A (p.Pro404Thr) rs2090573551
NM_001283009.2(RTEL1):c.1213T>G (p.Ser405Ala)
NM_001283009.2(RTEL1):c.1214C>T (p.Ser405Phe)
NM_001283009.2(RTEL1):c.1229G>C (p.Gly410Ala)
NM_001283009.2(RTEL1):c.1246G>A (p.Gly416Arg) rs772510897
NM_001283009.2(RTEL1):c.1249G>A (p.Ala417Thr)
NM_001283009.2(RTEL1):c.1255C>A (p.Gln419Lys)
NM_001283009.2(RTEL1):c.1255C>G (p.Gln419Glu)
NM_001283009.2(RTEL1):c.1259C>T (p.Ser420Phe)
NM_001283009.2(RTEL1):c.1261T>C (p.Tyr421His)
NM_001283009.2(RTEL1):c.1262A>C (p.Tyr421Ser)
NM_001283009.2(RTEL1):c.1262A>G (p.Tyr421Cys)
NM_001283009.2(RTEL1):c.1266+3del
NM_001283009.2(RTEL1):c.1266+6G>A
NM_001283009.2(RTEL1):c.1267G>A (p.Val423Met)
NM_001283009.2(RTEL1):c.1270C>T (p.His424Tyr) rs1568703945
NM_001283009.2(RTEL1):c.1271A>T (p.His424Leu)
NM_001283009.2(RTEL1):c.1276C>T (p.His426Tyr)
NM_001283009.2(RTEL1):c.127C>T (p.Pro43Ser)
NM_001283009.2(RTEL1):c.1282G>T (p.Asp428Tyr)
NM_001283009.2(RTEL1):c.1286C>A (p.Ala429Asp)
NM_001283009.2(RTEL1):c.1286C>G (p.Ala429Gly) rs149428839
NM_001283009.2(RTEL1):c.1289G>T (p.Gly430Val)
NM_001283009.2(RTEL1):c.1292A>T (p.His431Leu)
NM_001283009.2(RTEL1):c.1295G>A (p.Arg432Gln)
NM_001283009.2(RTEL1):c.1309C>T (p.Arg437Trp)
NM_001283009.2(RTEL1):c.1310G>A (p.Arg437Gln) rs537151019
NM_001283009.2(RTEL1):c.1318G>T (p.Ala440Ser)
NM_001283009.2(RTEL1):c.1319C>G (p.Ala440Gly)
NM_001283009.2(RTEL1):c.1323G>T (p.Trp441Cys) rs2090580676
NM_001283009.2(RTEL1):c.1331C>A (p.Thr444Asn)
NM_001283009.2(RTEL1):c.1333G>A (p.Ala445Thr)
NM_001283009.2(RTEL1):c.1348+3A>G
NM_001283009.2(RTEL1):c.1348+4C>T
NM_001283009.2(RTEL1):c.1348+6G>T rs371358328
NM_001283009.2(RTEL1):c.1352A>G (p.Lys451Arg)
NM_001283009.2(RTEL1):c.1364A>C (p.Tyr455Ser)
NM_001283009.2(RTEL1):c.1364A>G (p.Tyr455Cys)
NM_001283009.2(RTEL1):c.1378C>A (p.Pro460Thr)
NM_001283009.2(RTEL1):c.1395C>A (p.His465Gln)
NM_001283009.2(RTEL1):c.1396G>A (p.Glu466Lys) rs1219409480
NM_001283009.2(RTEL1):c.1403T>G (p.Val468Gly) rs2145419818
NM_001283009.2(RTEL1):c.1405C>T (p.Arg469Cys)
NM_001283009.2(RTEL1):c.1406G>A (p.Arg469His)
NM_001283009.2(RTEL1):c.1406G>T (p.Arg469Leu) rs779627326
NM_001283009.2(RTEL1):c.1410G>T (p.Gln470His)
NM_001283009.2(RTEL1):c.1418G>A (p.Arg473His)
NM_001283009.2(RTEL1):c.1448C>T (p.Ala483Val) rs2090629357
NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) rs786205700
NM_001283009.2(RTEL1):c.1469T>C (p.Leu490Pro) rs2145420008
NM_001283009.2(RTEL1):c.1474A>T (p.Met492Leu)
NM_001283009.2(RTEL1):c.1479G>C (p.Gln493His) rs999309460
NM_001283009.2(RTEL1):c.1481+4C>T
NM_001283009.2(RTEL1):c.1481+6G>A
NM_001283009.2(RTEL1):c.1482-10C>T
NM_001283009.2(RTEL1):c.1482-11G>A
NM_001283009.2(RTEL1):c.1482-9C>A rs1601163130
NM_001283009.2(RTEL1):c.1505A>G (p.Asn502Ser) rs2145420924
NM_001283009.2(RTEL1):c.1507C>G (p.Pro503Ala)
NM_001283009.2(RTEL1):c.1519G>A (p.Asp507Asn)
NM_001283009.2(RTEL1):c.1520A>C (p.Asp507Ala)
NM_001283009.2(RTEL1):c.1520A>G (p.Asp507Gly)
NM_001283009.2(RTEL1):c.1522A>G (p.Lys508Glu) rs2090635139
NM_001283009.2(RTEL1):c.1527C>G (p.His509Gln)
NM_001283009.2(RTEL1):c.1541G>C (p.Gly514Ala)
NM_001283009.2(RTEL1):c.1543G>A (p.Val515Ile) rs1246091092
NM_001283009.2(RTEL1):c.1549C>T (p.Pro517Ser)
NM_001283009.2(RTEL1):c.1553G>C (p.Arg518Thr)
NM_001283009.2(RTEL1):c.1571A>G (p.Gln524Arg)
NM_001283009.2(RTEL1):c.1576A>G (p.Ser526Gly)
NM_001283009.2(RTEL1):c.1582G>A (p.Ala528Thr)
NM_001283009.2(RTEL1):c.1583C>A (p.Ala528Glu) rs760398738
NM_001283009.2(RTEL1):c.1583C>T (p.Ala528Val) rs760398738
NM_001283009.2(RTEL1):c.1601C>A (p.Ser534Tyr)
NM_001283009.2(RTEL1):c.1610G>A (p.Cys537Tyr)
NM_001283009.2(RTEL1):c.1614A>T (p.Leu538Phe)
NM_001283009.2(RTEL1):c.1616C>T (p.Ser539Phe)
NM_001283009.2(RTEL1):c.1618T>G (p.Ser540Ala) rs863225130
NM_001283009.2(RTEL1):c.1623G>A (p.Leu541=)
NM_001283009.2(RTEL1):c.1636G>C (p.Gly546Arg)
NM_001283009.2(RTEL1):c.1637-3C>T
NM_001283009.2(RTEL1):c.1637G>A (p.Gly546Asp)
NM_001283009.2(RTEL1):c.163A>G (p.Thr55Ala)
NM_001283009.2(RTEL1):c.163A>T (p.Thr55Ser)
NM_001283009.2(RTEL1):c.1645G>A (p.Ala549Thr) rs1408202470
NM_001283009.2(RTEL1):c.1646C>T (p.Ala549Val) rs752494712
NM_001283009.2(RTEL1):c.1649G>A (p.Arg550His) rs765499822
NM_001283009.2(RTEL1):c.1658C>T (p.Pro553Leu)
NM_001283009.2(RTEL1):c.1660T>C (p.Tyr554His)
NM_001283009.2(RTEL1):c.1661A>C (p.Tyr554Ser)
NM_001283009.2(RTEL1):c.1670T>C (p.Leu557Pro) rs1601164500
NM_001283009.2(RTEL1):c.1672A>G (p.Ile558Val)
NM_001283009.2(RTEL1):c.1673T>A (p.Ile558Asn)
NM_001283009.2(RTEL1):c.1675T>A (p.Phe559Ile) rs747497376
NM_001283009.2(RTEL1):c.1721G>A (p.Arg574Gln)
NM_001283009.2(RTEL1):c.1721G>C (p.Arg574Pro)
NM_001283009.2(RTEL1):c.1722+10_1722+11delinsTT
NM_001283009.2(RTEL1):c.1722+4C>T
NM_001283009.2(RTEL1):c.1722+5G>A
NM_001283009.2(RTEL1):c.1726C>T (p.Arg576Cys)
NM_001283009.2(RTEL1):c.1736C>T (p.Ala579Val) rs2145423231
NM_001283009.2(RTEL1):c.173C>G (p.Ala58Gly)
NM_001283009.2(RTEL1):c.1744A>G (p.Met582Val)
NM_001283009.2(RTEL1):c.1744A>T (p.Met582Leu)
NM_001283009.2(RTEL1):c.1750G>T (p.Ala584Ser)
NM_001283009.2(RTEL1):c.1760C>T (p.Pro587Leu)
NM_001283009.2(RTEL1):c.1763T>C (p.Leu588Pro)
NM_001283009.2(RTEL1):c.1796C>A (p.Ser599Tyr)
NM_001283009.2(RTEL1):c.1798G>A (p.Glu600Lys)
NM_001283009.2(RTEL1):c.1800+4G>C rs370973086
NM_001283009.2(RTEL1):c.1800+5G>A
NM_001283009.2(RTEL1):c.1801-3C>T
NM_001283009.2(RTEL1):c.1802C>T (p.Thr601Ile)
NM_001283009.2(RTEL1):c.1805T>C (p.Ile602Thr)
NM_001283009.2(RTEL1):c.1817A>G (p.Tyr606Cys)
NM_001283009.2(RTEL1):c.1820C>G (p.Ala607Gly)
NM_001283009.2(RTEL1):c.1831G>A (p.Ala611Thr)
NM_001283009.2(RTEL1):c.1835C>T (p.Pro612Leu)
NM_001283009.2(RTEL1):c.1846G>A (p.Gly616Ser)
NM_001283009.2(RTEL1):c.1858C>G (p.Leu620Val) rs368411912
NM_001283009.2(RTEL1):c.1868G>A (p.Cys623Tyr)
NM_001283009.2(RTEL1):c.1870C>T (p.Arg624Trp)
NM_001283009.2(RTEL1):c.1871G>T (p.Arg624Leu)
NM_001283009.2(RTEL1):c.1874G>A (p.Gly625Asp) rs2145425936
NM_001283009.2(RTEL1):c.1876A>G (p.Lys626Glu)
NM_001283009.2(RTEL1):c.187C>T (p.Leu63Phe)
NM_001283009.2(RTEL1):c.1885G>A (p.Glu629Lys)
NM_001283009.2(RTEL1):c.1886A>G (p.Glu629Gly)
NM_001283009.2(RTEL1):c.188_190del (p.Leu63del)
NM_001283009.2(RTEL1):c.1909A>T (p.Asn637Tyr)
NM_001283009.2(RTEL1):c.1915C>T (p.Arg639Cys)
NM_001283009.2(RTEL1):c.1924A>C (p.Ile642Leu)
NM_001283009.2(RTEL1):c.1932G>A (p.Thr644=) rs374107857
NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu) rs1177091623
NM_001283009.2(RTEL1):c.1948C>A (p.Pro650Thr)
NM_001283009.2(RTEL1):c.194A>T (p.Asp65Val)
NM_001283009.2(RTEL1):c.1952G>A (p.Arg651His) rs773159241
NM_001283009.2(RTEL1):c.1954A>C (p.Met652Leu) rs766133842
NM_001283009.2(RTEL1):c.1955T>A (p.Met652Lys)
NM_001283009.2(RTEL1):c.1955T>C (p.Met652Thr) rs148080505
NM_001283009.2(RTEL1):c.1957G>C (p.Asp653His)
NM_001283009.2(RTEL1):c.1961C>G (p.Pro654Arg)
NM_001283009.2(RTEL1):c.1964G>A (p.Arg655Gln) rs753884575
NM_001283009.2(RTEL1):c.196G>A (p.Gly66Ser) rs755641587
NM_001283009.2(RTEL1):c.197G>T (p.Gly66Val) rs777459653
NM_001283009.2(RTEL1):c.1982A>G (p.Gln661Arg) rs758832096
NM_001283009.2(RTEL1):c.1992T>A (p.Asp664Glu)
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.1998G>T (p.Met666Ile)
NM_001283009.2(RTEL1):c.2002G>A (p.Gly668Ser)
NM_001283009.2(RTEL1):c.2003G>A (p.Gly668Asp)
NM_001283009.2(RTEL1):c.2004C>T (p.Gly668=)
NM_001283009.2(RTEL1):c.2006A>G (p.Gln669Arg)
NM_001283009.2(RTEL1):c.2011G>A (p.Gly671Arg)
NM_001283009.2(RTEL1):c.2017G>A (p.Gly673Arg)
NM_001283009.2(RTEL1):c.2021_2025+27dup
NM_001283009.2(RTEL1):c.2025+5G>A rs762945317
NM_001283009.2(RTEL1):c.2026-15C>A
NM_001283009.2(RTEL1):c.2027T>C (p.Phe676Ser)
NM_001283009.2(RTEL1):c.2028C>T (p.Phe676=)
NM_001283009.2(RTEL1):c.2035G>A (p.Gly679Arg) rs1229240096
NM_001283009.2(RTEL1):c.2039A>T (p.Gln680Leu)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2050C>T (p.Arg684Trp)
NM_001283009.2(RTEL1):c.205G>A (p.Ala69Thr) rs768524684
NM_001283009.2(RTEL1):c.2060C>T (p.Ala687Val)
NM_001283009.2(RTEL1):c.2083A>G (p.Ile695Val) rs2090684109
NM_001283009.2(RTEL1):c.2087G>A (p.Gly696Glu)
NM_001283009.2(RTEL1):c.208C>G (p.Arg70Gly)
NM_001283009.2(RTEL1):c.2099G>A (p.Arg700Gln)
NM_001283009.2(RTEL1):c.209G>A (p.Arg70His) rs61736616
NM_001283009.2(RTEL1):c.209G>T (p.Arg70Leu)
NM_001283009.2(RTEL1):c.2104C>T (p.Arg702Cys)
NM_001283009.2(RTEL1):c.2110G>A (p.Asp704Asn)
NM_001283009.2(RTEL1):c.2137C>G (p.His713Asp) rs2145429206
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2142-3C>T
NM_001283009.2(RTEL1):c.2142G>A (p.Arg714=) rs2145430556
NM_001283009.2(RTEL1):c.2142G>C (p.Arg714Ser)
NM_001283009.2(RTEL1):c.2159C>T (p.Ala720Val) rs2145430644
NM_001283009.2(RTEL1):c.215T>C (p.Ile72Thr)
NM_001283009.2(RTEL1):c.2164G>A (p.Ala722Thr)
NM_001283009.2(RTEL1):c.2164G>T (p.Ala722Ser) rs2090697243
NM_001283009.2(RTEL1):c.2169A>C (p.Gln723His)
NM_001283009.2(RTEL1):c.217G>A (p.Ala73Thr)
NM_001283009.2(RTEL1):c.2182G>A (p.Val728Met)
NM_001283009.2(RTEL1):c.2185C>T (p.Arg729Cys) rs1555811919
NM_001283009.2(RTEL1):c.2186G>A (p.Arg729His)
NM_001283009.2(RTEL1):c.2194G>A (p.Val732Ile) rs142039934
NM_001283009.2(RTEL1):c.2206_2208del (p.Asp736del)
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2211C>G (p.Asn737Lys)
NM_001283009.2(RTEL1):c.2222_2223delinsGT (p.Val741Gly)
NM_001283009.2(RTEL1):c.2233G>A (p.Val745Met) rs398123049
NM_001283009.2(RTEL1):c.2233G>C (p.Val745Leu)
NM_001283009.2(RTEL1):c.2237C>T (p.Ala746Val)
NM_001283009.2(RTEL1):c.2248C>T (p.Arg750Cys) rs2090699912
NM_001283009.2(RTEL1):c.2249G>A (p.Arg750His) rs758667681
NM_001283009.2(RTEL1):c.2249G>T (p.Arg750Leu) rs758667681
NM_001283009.2(RTEL1):c.2257G>A (p.Glu753Lys)
NM_001283009.2(RTEL1):c.2261G>T (p.Arg754Leu) rs141423196
NM_001283009.2(RTEL1):c.2265T>G (p.Thr755=)
NM_001283009.2(RTEL1):c.2268G>A (p.Met756Ile)
NM_001283009.2(RTEL1):c.2269C>A (p.Pro757Thr) rs1348818075
NM_001283009.2(RTEL1):c.2274_2275delinsAG (p.Pro759Ala) rs1601171438
NM_001283009.2(RTEL1):c.2276C>G (p.Pro759Arg)
NM_001283009.2(RTEL1):c.2276C>T (p.Pro759Leu)
NM_001283009.2(RTEL1):c.2278G>C (p.Ala760Pro)
NM_001283009.2(RTEL1):c.2281C>T (p.Pro761Ser)
NM_001283009.2(RTEL1):c.2284C>G (p.Arg762Gly) rs750251447
NM_001283009.2(RTEL1):c.2285G>A (p.Arg762Gln)
NM_001283009.2(RTEL1):c.2291C>A (p.Thr764Lys)
NM_001283009.2(RTEL1):c.2291C>T (p.Thr764Ile) rs767774517
NM_001283009.2(RTEL1):c.2297C>T (p.Pro766Leu)
NM_001283009.2(RTEL1):c.2305C>T (p.Arg769Cys)
NM_001283009.2(RTEL1):c.2309_2311del (p.Gly770del) rs1555812033
NM_001283009.2(RTEL1):c.2323A>G (p.Ser775Gly)
NM_001283009.2(RTEL1):c.2324G>T (p.Ser775Ile)
NM_001283009.2(RTEL1):c.2326G>A (p.Glu776Lys)
NM_001283009.2(RTEL1):c.2326G>C (p.Glu776Gln) rs746677388
NM_001283009.2(RTEL1):c.2327A>G (p.Glu776Gly)
NM_001283009.2(RTEL1):c.2333A>G (p.Lys778Arg)
NM_001283009.2(RTEL1):c.2334G>C (p.Lys778Asn)
NM_001283009.2(RTEL1):c.2339C>T (p.Pro780Leu)
NM_001283009.2(RTEL1):c.2345C>T (p.Pro782Leu) rs764157833
NM_001283009.2(RTEL1):c.2348TCT[1] (p.Phe784del) rs771771098
NM_001283009.2(RTEL1):c.2353_2355del (p.Ser785del)
NM_001283009.2(RTEL1):c.2354C>G (p.Ser785Cys)
NM_001283009.2(RTEL1):c.2366C>G (p.Ala789Gly) rs2090707111
NM_001283009.2(RTEL1):c.2368A>G (p.Lys790Glu)
NM_001283009.2(RTEL1):c.2369A>G (p.Lys790Arg)
NM_001283009.2(RTEL1):c.2371A>T (p.Ser791Cys)
NM_001283009.2(RTEL1):c.2377G>A (p.Asp793Asn)
NM_001283009.2(RTEL1):c.2377G>T (p.Asp793Tyr)
NM_001283009.2(RTEL1):c.2379C>A (p.Asp793Glu)
NM_001283009.2(RTEL1):c.2384A>G (p.His795Arg) rs2145432169
NM_001283009.2(RTEL1):c.2386G>C (p.Val796Leu)
NM_001283009.2(RTEL1):c.2387T>A (p.Val796Asp)
NM_001283009.2(RTEL1):c.2393G>C (p.Ser798Thr)
NM_001283009.2(RTEL1):c.2393G>T (p.Ser798Ile)
NM_001283009.2(RTEL1):c.2395C>G (p.Leu799Val) rs1601171872
NM_001283009.2(RTEL1):c.2401C>G (p.Gln801Glu)
NM_001283009.2(RTEL1):c.2405G>A (p.Arg802Lys)
NM_001283009.2(RTEL1):c.2410T>C (p.Ser804Pro) rs2145432315
NM_001283009.2(RTEL1):c.2413+4C>G
NM_001283009.2(RTEL1):c.2413+5G>C rs750836127
NM_001283009.2(RTEL1):c.2414G>A (p.Gly805Glu)
NM_001283009.2(RTEL1):c.2417C>T (p.Ser806Leu)
NM_001283009.2(RTEL1):c.2419C>T (p.Pro807Ser)
NM_001283009.2(RTEL1):c.2422G>A (p.Ala808Thr)
NM_001283009.2(RTEL1):c.2428G>C (p.Gly810Arg)
NM_001283009.2(RTEL1):c.2431G>A (p.Asp811Asn)
NM_001283009.2(RTEL1):c.2431G>T (p.Asp811Tyr)
NM_001283009.2(RTEL1):c.2434C>A (p.Pro812Thr) rs1601173488
NM_001283009.2(RTEL1):c.2435C>G (p.Pro812Arg)
NM_001283009.2(RTEL1):c.2437G>A (p.Glu813Lys)
NM_001283009.2(RTEL1):c.2441G>A (p.Ser814Asn)
NM_001283009.2(RTEL1):c.2441G>C (p.Ser814Thr)
NM_001283009.2(RTEL1):c.2441G>T (p.Ser814Ile)
NM_001283009.2(RTEL1):c.2443A>G (p.Ser815Gly)
NM_001283009.2(RTEL1):c.2446C>G (p.Leu816Val) rs2145434398
NM_001283009.2(RTEL1):c.2449T>C (p.Cys817Arg)
NM_001283009.2(RTEL1):c.2450G>A (p.Cys817Tyr)
NM_001283009.2(RTEL1):c.2458_2459insTCA (p.Tyr820delinsPheAsn) rs1254325984
NM_001283009.2(RTEL1):c.2461G>A (p.Glu821Lys)
NM_001283009.2(RTEL1):c.2469G>T (p.Glu823Asp)
NM_001283009.2(RTEL1):c.2471C>A (p.Pro824Gln) rs769874593
NM_001283009.2(RTEL1):c.2473G>A (p.Val825Ile)
NM_001283009.2(RTEL1):c.2476C>T (p.Pro826Ser)
NM_001283009.2(RTEL1):c.2480C>T (p.Ala827Val)
NM_001283009.2(RTEL1):c.2482C>T (p.Arg828Trp)
NM_001283009.2(RTEL1):c.2509G>T (p.Ala837Ser)
NM_001283009.2(RTEL1):c.2510C>T (p.Ala837Val)
NM_001283009.2(RTEL1):c.2519A>G (p.His840Arg)
NM_001283009.2(RTEL1):c.251G>A (p.Arg84Gln)
NM_001283009.2(RTEL1):c.251G>C (p.Arg84Pro)
NM_001283009.2(RTEL1):c.2524G>A (p.Glu842Lys)
NM_001283009.2(RTEL1):c.2526A>C (p.Glu842Asp) rs2145434771
NM_001283009.2(RTEL1):c.2528A>G (p.Gln843Arg) rs2090724190
NM_001283009.2(RTEL1):c.2536G>C (p.Gly846Arg)
NM_001283009.2(RTEL1):c.253G>A (p.Ala85Thr)
NM_001283009.2(RTEL1):c.2540G>A (p.Ser847Asn) rs545991923
NM_001283009.2(RTEL1):c.2544_2545delinsCC (p.Gly849Arg) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545delinsCT (p.Gly849Cys) rs2145434898
NM_001283009.2(RTEL1):c.2544_2545inv (p.Gly849Ser)
NM_001283009.2(RTEL1):c.2556+5A>G
NM_001283009.2(RTEL1):c.2557-10T>G
NM_001283009.2(RTEL1):c.2557-19_2557-6del
NM_001283009.2(RTEL1):c.2557-5_2557-3del rs1279921309
NM_001283009.2(RTEL1):c.2560C>G (p.His854Asp) rs780005986
NM_001283009.2(RTEL1):c.2567G>A (p.Cys856Tyr)
NM_001283009.2(RTEL1):c.2570C>T (p.Ser857Phe)
NM_001283009.2(RTEL1):c.2576T>C (p.Leu859Pro)
NM_001283009.2(RTEL1):c.2585T>G (p.Leu862Arg) rs765909720
NM_001283009.2(RTEL1):c.2588C>T (p.Ser863Phe) rs1029017182
NM_001283009.2(RTEL1):c.2591A>C (p.Glu864Ala) rs2145439184
NM_001283009.2(RTEL1):c.2599C>G (p.Pro867Ala)
NM_001283009.2(RTEL1):c.259T>C (p.Ser87Pro)
NM_001283009.2(RTEL1):c.2600C>G (p.Pro867Arg)
NM_001283009.2(RTEL1):c.2602G>A (p.Ala868Thr) rs2090751615
NM_001283009.2(RTEL1):c.2615G>A (p.Arg872Gln)
NM_001283009.2(RTEL1):c.2616AGG[1] (p.Gly874del)
NM_001283009.2(RTEL1):c.2617G>A (p.Gly873Arg) rs2090752058
NM_001283009.2(RTEL1):c.2618G>A (p.Gly873Glu)
NM_001283009.2(RTEL1):c.2620G>T (p.Gly874Trp)
NM_001283009.2(RTEL1):c.2622G>T (p.Gly874=)
NM_001283009.2(RTEL1):c.2634C>G (p.Ile878Met)
NM_001283009.2(RTEL1):c.2636G>A (p.Arg879Gln) rs770539835
NM_001283009.2(RTEL1):c.2636G>C (p.Arg879Pro) rs770539835
NM_001283009.2(RTEL1):c.2636G>T (p.Arg879Leu) rs770539835
NM_001283009.2(RTEL1):c.2645G>A (p.Ser882Asn)
NM_001283009.2(RTEL1):c.2646C>G (p.Ser882Arg)
NM_001283009.2(RTEL1):c.2647C>A (p.His883Asn)
NM_001283009.2(RTEL1):c.2651C>G (p.Pro884Arg)
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2653G>C (p.Glu885Gln) rs2090784564
NM_001283009.2(RTEL1):c.2654A>G (p.Glu885Gly)
NM_001283009.2(RTEL1):c.2656G>A (p.Glu886Lys)
NM_001283009.2(RTEL1):c.2658G>T (p.Glu886Asp)
NM_001283009.2(RTEL1):c.2659C>T (p.Pro887Ser) rs1399014030
NM_001283009.2(RTEL1):c.265T>C (p.Trp89Arg) rs2090019014
NM_001283009.2(RTEL1):c.2660C>T (p.Pro887Leu) rs1568717000
NM_001283009.2(RTEL1):c.2662G>A (p.Val888Met) rs200505378
NM_001283009.2(RTEL1):c.2663T>G (p.Val888Gly)
NM_001283009.2(RTEL1):c.2665G>C (p.Ala889Pro)
NM_001283009.2(RTEL1):c.2682C>G (p.Asp894Glu) rs535831345
NM_001283009.2(RTEL1):c.2683A>G (p.Arg895Gly) rs2090785759
NM_001283009.2(RTEL1):c.2683A>T (p.Arg895Trp)
NM_001283009.2(RTEL1):c.2684G>A (p.Arg895Lys) rs150564915
NM_001283009.2(RTEL1):c.2684G>C (p.Arg895Thr)
NM_001283009.2(RTEL1):c.2686G>A (p.Ala896Thr)
NM_001283009.2(RTEL1):c.2690A>G (p.Lys897Arg)
NM_001283009.2(RTEL1):c.2698A>C (p.Met900Leu) rs749041304
NM_001283009.2(RTEL1):c.2698A>G (p.Met900Val)
NM_001283009.2(RTEL1):c.2699T>G (p.Met900Arg)
NM_001283009.2(RTEL1):c.2713C>G (p.Gln905Glu) rs768610590
NM_001283009.2(RTEL1):c.2714A>C (p.Gln905Pro) rs2090786703
NM_001283009.2(RTEL1):c.2715G>C (p.Gln905His) rs1278177922
NM_001283009.2(RTEL1):c.2718G>C (p.Glu906Asp)
NM_001283009.2(RTEL1):c.271A>G (p.Asn91Asp)
NM_001283009.2(RTEL1):c.2721G>T (p.Leu907Phe)
NM_001283009.2(RTEL1):c.2722A>G (p.Ser908Gly) rs2090787000
NM_001283009.2(RTEL1):c.2726A>C (p.Gln909Pro)
NM_001283009.2(RTEL1):c.2729C>T (p.Ala910Val)
NM_001283009.2(RTEL1):c.272A>G (p.Asn91Ser) rs941773443
NM_001283009.2(RTEL1):c.272A>T (p.Asn91Ile)
NM_001283009.2(RTEL1):c.2732A>G (p.Asn911Ser)
NM_001283009.2(RTEL1):c.2733C>G (p.Asn911Lys) rs372027131
NM_001283009.2(RTEL1):c.2734T>C (p.Phe912Leu)
NM_001283009.2(RTEL1):c.2740A>G (p.Thr914Ala)
NM_001283009.2(RTEL1):c.2745C>G (p.Phe915Leu) rs1376717154
NM_001283009.2(RTEL1):c.2746A>T (p.Thr916Ser)
NM_001283009.2(RTEL1):c.2747C>G (p.Thr916Ser)
NM_001283009.2(RTEL1):c.274G>A (p.Ala92Thr) rs1404412328
NM_001283009.2(RTEL1):c.2755C>G (p.Leu919Val)
NM_001283009.2(RTEL1):c.2759A>G (p.Gln920Arg) rs2090788449
NM_001283009.2(RTEL1):c.275C>G (p.Ala92Gly)
NM_001283009.2(RTEL1):c.275CTG[4] (p.Ala96del)
NM_001283009.2(RTEL1):c.275CTG[6] (p.Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.275CTG[7] (p.Ala95_Ala96dup) rs769909059
NM_001283009.2(RTEL1):c.2762A>G (p.Asp921Gly)
NM_001283009.2(RTEL1):c.2765A>G (p.Tyr922Cys)
NM_001283009.2(RTEL1):c.2771G>A (p.Gly924Asp)
NM_001283009.2(RTEL1):c.2774C>A (p.Ser925Tyr)
NM_001283009.2(RTEL1):c.2774C>G (p.Ser925Cys) rs770018942
NM_001283009.2(RTEL1):c.2774C>T (p.Ser925Phe)
NM_001283009.2(RTEL1):c.2779G>A (p.Asp927Asn)
NM_001283009.2(RTEL1):c.277G>A (p.Ala93Thr) rs2146149148
NM_001283009.2(RTEL1):c.2784_2785delinsTC (p.Ala929Pro)
NM_001283009.2(RTEL1):c.2788G>C (p.Ala930Pro) rs371721039
NM_001283009.2(RTEL1):c.2794G>A (p.Ala932Thr)
NM_001283009.2(RTEL1):c.2797G>A (p.Ala933Thr) rs781430438
NM_001283009.2(RTEL1):c.2797G>T (p.Ala933Ser) rs781430438
NM_001283009.2(RTEL1):c.2801G>A (p.Cys934Tyr) rs1263651818
NM_001283009.2(RTEL1):c.2801G>C (p.Cys934Ser) rs1263651818
NM_001283009.2(RTEL1):c.2806G>A (p.Gly936Ser)
NM_001283009.2(RTEL1):c.2807G>T (p.Gly936Val)
NM_001283009.2(RTEL1):c.280G>A (p.Ala94Thr) rs371690600
NM_001283009.2(RTEL1):c.2810C>G (p.Pro937Arg)
NM_001283009.2(RTEL1):c.2812C>G (p.Leu938Val)
NM_001283009.2(RTEL1):c.2813T>C (p.Leu938Pro)
NM_001283009.2(RTEL1):c.2821G>A (p.Glu941Lys)
NM_001283009.2(RTEL1):c.2822A>C (p.Glu941Ala)
NM_001283009.2(RTEL1):c.2825A>G (p.Asp942Gly)
NM_001283009.2(RTEL1):c.2827C>T (p.Pro943Ser)
NM_001283009.2(RTEL1):c.2828C>G (p.Pro943Arg) rs142969505
NM_001283009.2(RTEL1):c.2828C>T (p.Pro943Leu) rs142969505
NM_001283009.2(RTEL1):c.2830A>G (p.Lys944Glu)
NM_001283009.2(RTEL1):c.2831A>G (p.Lys944Arg)
NM_001283009.2(RTEL1):c.2832G>C (p.Lys944Asn)
NM_001283009.2(RTEL1):c.2833A>G (p.Lys945Glu)
NM_001283009.2(RTEL1):c.2836C>T (p.His946Tyr) rs1375502785
NM_001283009.2(RTEL1):c.2838C>G (p.His946Gln)
NM_001283009.2(RTEL1):c.2839A>C (p.Asn947His)
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser) rs761268803
NM_001283009.2(RTEL1):c.2843T>G (p.Leu948Arg)
NM_001283009.2(RTEL1):c.2849A>G (p.Gln950Arg) rs2145447147
NM_001283009.2(RTEL1):c.2851+10C>T
NM_001283009.2(RTEL1):c.2851+4C>T rs751450627
NM_001283009.2(RTEL1):c.2851+5C>T
NM_001283009.2(RTEL1):c.2851+6C>G rs1601183088
NM_001283009.2(RTEL1):c.2852-3C>T
NM_001283009.2(RTEL1):c.2852G>C (p.Gly951Ala) rs925928624
NM_001283009.2(RTEL1):c.2854T>C (p.Phe952Leu) rs1601184120
NM_001283009.2(RTEL1):c.2857T>C (p.Tyr953His)
NM_001283009.2(RTEL1):c.2860C>A (p.Gln954Lys) rs1159070520
NM_001283009.2(RTEL1):c.2860C>G (p.Gln954Glu)
NM_001283009.2(RTEL1):c.2861A>G (p.Gln954Arg)
NM_001283009.2(RTEL1):c.2870G>C (p.Arg957Pro)
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.287C>G (p.Ala96Gly)
NM_001283009.2(RTEL1):c.2882A>G (p.Lys961Arg) rs2145448755
NM_001283009.2(RTEL1):c.2884C>A (p.Gln962Lys)
NM_001283009.2(RTEL1):c.2884C>G (p.Gln962Glu)
NM_001283009.2(RTEL1):c.2891T>A (p.Phe964Tyr)
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2893G>A (p.Glu965Lys)
NM_001283009.2(RTEL1):c.2893G>C (p.Glu965Gln)
NM_001283009.2(RTEL1):c.2895G>C (p.Glu965Asp) rs745327960
NM_001283009.2(RTEL1):c.2899G>A (p.Val967Ile)
NM_001283009.2(RTEL1):c.2899G>T (p.Val967Phe)
NM_001283009.2(RTEL1):c.2905A>G (p.Ile969Val)
NM_001283009.2(RTEL1):c.2909A>G (p.Gln970Arg) rs2090804992
NM_001283009.2(RTEL1):c.2909A>T (p.Gln970Leu) rs2090804992
NM_001283009.2(RTEL1):c.2910G>C (p.Gln970His)
NM_001283009.2(RTEL1):c.2915C>A (p.Thr972Lys) rs199834369
NM_001283009.2(RTEL1):c.2917G>A (p.Gly973Arg)
NM_001283009.2(RTEL1):c.2918G>A (p.Gly973Glu) rs2145448980
NM_001283009.2(RTEL1):c.2921G>C (p.Arg974Pro)
NM_001283009.2(RTEL1):c.2924G>C (p.Gly975Ala) rs757725471
NM_001283009.2(RTEL1):c.2928T>G (p.Cys976Trp)
NM_001283009.2(RTEL1):c.2930G>A (p.Gly977Asp) rs2145449091
NM_001283009.2(RTEL1):c.2932T>C (p.Tyr978His) rs534046818
NM_001283009.2(RTEL1):c.2933A>G (p.Tyr978Cys) rs750109305
NM_001283009.2(RTEL1):c.2933A>T (p.Tyr978Phe) rs750109305
NM_001283009.2(RTEL1):c.2936G>A (p.Arg979Gln)
NM_001283009.2(RTEL1):c.2939C>T (p.Pro980Leu) rs1340326956
NM_001283009.2(RTEL1):c.2941G>A (p.Glu981Lys)
NM_001283009.2(RTEL1):c.2943G>C (p.Glu981Asp)
NM_001283009.2(RTEL1):c.2945A>G (p.His982Arg)
NM_001283009.2(RTEL1):c.2947A>G (p.Ser983Gly)
NM_001283009.2(RTEL1):c.2948G>A (p.Ser983Asn)
NM_001283009.2(RTEL1):c.2948G>C (p.Ser983Thr)
NM_001283009.2(RTEL1):c.2950A>C (p.Ile984Leu)
NM_001283009.2(RTEL1):c.2953C>A (p.Pro985Thr) rs772031890
NM_001283009.2(RTEL1):c.2954C>A (p.Pro985His) rs1462195263
NM_001283009.2(RTEL1):c.2957G>T (p.Arg986Leu)
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
NM_001283009.2(RTEL1):c.2966G>C (p.Arg989Pro)
NM_001283009.2(RTEL1):c.2968G>A (p.Ala990Thr) rs751124641
NM_001283009.2(RTEL1):c.2969C>G (p.Ala990Gly)
NM_001283009.2(RTEL1):c.2969C>T (p.Ala990Val) rs370171864
NM_001283009.2(RTEL1):c.2971_2972delinsAG (p.Gln991Arg)
NM_001283009.2(RTEL1):c.2973G>C (p.Gln991His)
NM_001283009.2(RTEL1):c.2974C>T (p.Pro992Ser)
NM_001283009.2(RTEL1):c.2975C>G (p.Pro992Arg) rs143967591
NM_001283009.2(RTEL1):c.2980C>G (p.Leu994Val) rs2145449535
NM_001283009.2(RTEL1):c.2981T>C (p.Leu994Pro) rs1453207384
NM_001283009.2(RTEL1):c.2983G>A (p.Asp995Asn) rs202020298
NM_001283009.2(RTEL1):c.2983G>C (p.Asp995His)
NM_001283009.2(RTEL1):c.2983G>T (p.Asp995Tyr)
NM_001283009.2(RTEL1):c.2985C>A (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2985C>G (p.Asp995Glu) rs762474261
NM_001283009.2(RTEL1):c.2987C>G (p.Pro996Arg) rs373210484
NM_001283009.2(RTEL1):c.2987C>T (p.Pro996Leu) rs373210484
NM_001283009.2(RTEL1):c.2989A>G (p.Thr997Ala)
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser) rs1046295138
NM_001283009.2(RTEL1):c.2991T>C (p.Thr997=) rs2145449639
NM_001283009.2(RTEL1):c.2992+13C>A
NM_001283009.2(RTEL1):c.2992+16G>A
NM_001283009.2(RTEL1):c.2992+17G>T
NM_001283009.2(RTEL1):c.2992+4A>C
NM_001283009.2(RTEL1):c.2992+6T>C
NM_001283009.2(RTEL1):c.2992+8G>C
NM_001283009.2(RTEL1):c.2992+9G>A
NM_001283009.2(RTEL1):c.2993-3C>T
NM_001283009.2(RTEL1):c.2993-4T>G
NM_001283009.2(RTEL1):c.2995A>G (p.Arg999Gly)
NM_001283009.2(RTEL1):c.2996G>A (p.Arg999Lys)
NM_001283009.2(RTEL1):c.3001G>A (p.Ala1001Thr)
NM_001283009.2(RTEL1):c.3005C>A (p.Pro1002Gln)
NM_001283009.2(RTEL1):c.3005C>G (p.Pro1002Arg) rs767735975
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.3008A>C (p.Asp1003Ala) rs2090912360
NM_001283009.2(RTEL1):c.301+3G>A
NM_001283009.2(RTEL1):c.301+5C>T
NM_001283009.2(RTEL1):c.3010C>G (p.Pro1004Ala)
NM_001283009.2(RTEL1):c.3014A>G (p.Lys1005Arg)
NM_001283009.2(RTEL1):c.3014A>T (p.Lys1005Met)
NM_001283009.2(RTEL1):c.302-6G>C
NM_001283009.2(RTEL1):c.3020C>T (p.Thr1007Ile) rs776712596
NM_001283009.2(RTEL1):c.3022G>C (p.Val1008Leu)
NM_001283009.2(RTEL1):c.3028A>C (p.Thr1010Pro) rs2145470968
NM_001283009.2(RTEL1):c.3029C>T (p.Thr1010Met) rs750539539
NM_001283009.2(RTEL1):c.3031G>A (p.Ala1011Thr)
NM_001283009.2(RTEL1):c.3034G>T (p.Ala1012Ser)
NM_001283009.2(RTEL1):c.3035C>A (p.Ala1012Glu)
NM_001283009.2(RTEL1):c.3044A>G (p.Gln1015Arg)
NM_001283009.2(RTEL1):c.3045G>C (p.Gln1015His) rs2145471144
NM_001283009.2(RTEL1):c.3049G>C (p.Asp1017His) rs61736617
NM_001283009.2(RTEL1):c.3049G>T (p.Asp1017Tyr)
NM_001283009.2(RTEL1):c.304T>C (p.Cys102Arg)
NM_001283009.2(RTEL1):c.3053_3070dup (p.Asn1023_Gln1024insProGlnGluHisLeuAsn)
NM_001283009.2(RTEL1):c.3055C>G (p.Gln1019Glu) rs1435090971
NM_001283009.2(RTEL1):c.3058G>C (p.Glu1020Gln)
NM_001283009.2(RTEL1):c.3059A>G (p.Glu1020Gly) rs2090914407
NM_001283009.2(RTEL1):c.3060G>C (p.Glu1020Asp)
NM_001283009.2(RTEL1):c.3062A>T (p.His1021Leu) rs1345368614
NM_001283009.2(RTEL1):c.3069C>G (p.Asn1023Lys) rs773448494
NM_001283009.2(RTEL1):c.3074G>A (p.Gly1025Asp)
NM_001283009.2(RTEL1):c.3077G>T (p.Arg1026Met) rs1448735633
NM_001283009.2(RTEL1):c.3079C>T (p.Pro1027Ser) rs2090915113
NM_001283009.2(RTEL1):c.307T>C (p.Tyr103His)
NM_001283009.2(RTEL1):c.3083A>C (p.His1028Pro)
NM_001283009.2(RTEL1):c.3085C>G (p.Leu1029Val)
NM_001283009.2(RTEL1):c.3089C>G (p.Ser1030Trp) rs756579704
NM_001283009.2(RTEL1):c.3091C>T (p.Pro1031Ser) rs912272913
NM_001283009.2(RTEL1):c.3092C>T (p.Pro1031Leu)
NM_001283009.2(RTEL1):c.3096G>T (p.Arg1032Ser)
NM_001283009.2(RTEL1):c.3100C>T (p.Pro1034Ser)
NM_001283009.2(RTEL1):c.3104C>G (p.Pro1035Arg)
NM_001283009.2(RTEL1):c.3109+14G>T
NM_001283009.2(RTEL1):c.3109+5C>G
NM_001283009.2(RTEL1):c.3110-10C>G rs2090927100
NM_001283009.2(RTEL1):c.3110G>A (p.Gly1037Glu)
NM_001283009.2(RTEL1):c.3114C>A (p.Asp1038Glu) rs746139882
NM_001283009.2(RTEL1):c.3116C>G (p.Pro1039Arg)
NM_001283009.2(RTEL1):c.3118G>T (p.Gly1040Cys)
NM_001283009.2(RTEL1):c.3119G>T (p.Gly1040Val)
NM_001283009.2(RTEL1):c.311C>A (p.Thr104Lys) rs367809459
NM_001283009.2(RTEL1):c.311C>T (p.Thr104Met) rs367809459
NM_001283009.2(RTEL1):c.3131A>G (p.Gln1044Arg) rs1350870028
NM_001283009.2(RTEL1):c.3136_3138del (p.Gly1046del) rs1555814207
NM_001283009.2(RTEL1):c.3149C>G (p.Pro1050Arg)
NM_001283009.2(RTEL1):c.3155C>G (p.Ala1052Gly) rs1479396091
NM_001283009.2(RTEL1):c.316A>T (p.Ile106Phe) rs2090027158
NM_001283009.2(RTEL1):c.3171G>T (p.Gln1057His)
NM_001283009.2(RTEL1):c.3178G>T (p.Val1060Leu)
NM_001283009.2(RTEL1):c.3182G>A (p.Ser1061Asn) rs1167219600
NM_001283009.2(RTEL1):c.3185C>T (p.Ala1062Val)
NM_001283009.2(RTEL1):c.3186C>T (p.Ala1062=)
NM_001283009.2(RTEL1):c.31G>A (p.Val11Ile)
NM_001283009.2(RTEL1):c.3212T>C (p.Leu1071Pro)
NM_001283009.2(RTEL1):c.3217T>G (p.Ser1073Ala)
NM_001283009.2(RTEL1):c.3223G>T (p.Gly1075Cys) rs1431515751
NM_001283009.2(RTEL1):c.3235C>G (p.Leu1079Val)
NM_001283009.2(RTEL1):c.3238T>G (p.Leu1080Val)
NM_001283009.2(RTEL1):c.3245C>T (p.Ala1082Val)
NM_001283009.2(RTEL1):c.3257A>G (p.Tyr1086Cys)
NM_001283009.2(RTEL1):c.3259A>G (p.Lys1087Glu)
NM_001283009.2(RTEL1):c.3261G>T (p.Lys1087Asn)
NM_001283009.2(RTEL1):c.3262C>G (p.Gln1088Glu) rs918462634
NM_001283009.2(RTEL1):c.3265GAC[2] (p.Asp1091del) rs1568724567
NM_001283009.2(RTEL1):c.3271G>A (p.Asp1091Asn)
NM_001283009.2(RTEL1):c.3274C>T (p.Leu1092Phe)
NM_001283009.2(RTEL1):c.3275T>C (p.Leu1092Pro)
NM_001283009.2(RTEL1):c.3277G>C (p.Asp1093His)
NM_001283009.2(RTEL1):c.3279C>G (p.Asp1093Glu)
NM_001283009.2(RTEL1):c.3282G>T (p.Lys1094Asn) rs778086975
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
NM_001283009.2(RTEL1):c.3291_3299del (p.1095VLA[1])
NM_001283009.2(RTEL1):c.3292G>A (p.Val1098Met)
NM_001283009.2(RTEL1):c.3293T>C (p.Val1098Ala)
NM_001283009.2(RTEL1):c.3296T>G (p.Leu1099Trp) rs199998697
NM_001283009.2(RTEL1):c.3304C>G (p.Leu1102Val)
NM_001283009.2(RTEL1):c.3308C>G (p.Thr1103Ser)
NM_001283009.2(RTEL1):c.3311C>G (p.Thr1104Ser)
NM_001283009.2(RTEL1):c.3313G>A (p.Ala1105Thr) rs752980702
NM_001283009.2(RTEL1):c.3314C>A (p.Ala1105Glu)
NM_001283009.2(RTEL1):c.3314C>G (p.Ala1105Gly) rs1193975279
NM_001283009.2(RTEL1):c.3320C>G (p.Pro1107Arg) rs115264605
NM_001283009.2(RTEL1):c.3320C>T (p.Pro1107Leu)
NM_001283009.2(RTEL1):c.3322G>A (p.Glu1108Lys) rs945952564
NM_001283009.2(RTEL1):c.3326A>C (p.Asp1109Ala)
NM_001283009.2(RTEL1):c.3328T>G (p.Phe1110Val) rs754275053
NM_001283009.2(RTEL1):c.3329T>C (p.Phe1110Ser) rs148621466
NM_001283009.2(RTEL1):c.3331C>T (p.Pro1111Ser)
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
NM_001283009.2(RTEL1):c.3343+15C>T
NM_001283009.2(RTEL1):c.3343A>G (p.Arg1115Gly)
NM_001283009.2(RTEL1):c.3344G>A (p.Arg1115Lys)
NM_001283009.2(RTEL1):c.3349A>G (p.Ser1117Gly)
NM_001283009.2(RTEL1):c.3352A>G (p.Met1118Val) rs2090940417
NM_001283009.2(RTEL1):c.3358G>A (p.Val1120Met) rs1232203927
NM_001283009.2(RTEL1):c.3358G>C (p.Val1120Leu)
NM_001283009.2(RTEL1):c.335C>T (p.Ala112Val)
NM_001283009.2(RTEL1):c.3364C>G (p.Pro1122Ala)
NM_001283009.2(RTEL1):c.3364C>T (p.Pro1122Ser)
NM_001283009.2(RTEL1):c.3365C>T (p.Pro1122Leu)
NM_001283009.2(RTEL1):c.3369C>G (p.His1123Gln)
NM_001283009.2(RTEL1):c.3372C>G (p.His1124Gln)
NM_001283009.2(RTEL1):c.3374A>G (p.Lys1125Arg)
NM_001283009.2(RTEL1):c.3376C>G (p.Gln1126Glu) rs778734749
NM_001283009.2(RTEL1):c.3377A>T (p.Gln1126Leu)
NM_001283009.2(RTEL1):c.3378G>C (p.Gln1126His)
NM_001283009.2(RTEL1):c.3379C>A (p.Arg1127Ser) rs745614952
NM_001283009.2(RTEL1):c.3379C>G (p.Arg1127Gly)
NM_001283009.2(RTEL1):c.3382T>C (p.Phe1128Leu) rs2090941270
NM_001283009.2(RTEL1):c.3392C>A (p.Thr1131Lys)
NM_001283009.2(RTEL1):c.3392C>G (p.Thr1131Arg) rs372852392
NM_001283009.2(RTEL1):c.3394T>C (p.Cys1132Arg) rs2145477538
NM_001283009.2(RTEL1):c.3398C>G (p.Thr1133Arg)
NM_001283009.2(RTEL1):c.3412C>T (p.Arg1138Trp) rs6062495
NM_001283009.2(RTEL1):c.3413G>A (p.Arg1138Gln)
NM_001283009.2(RTEL1):c.3413G>C (p.Arg1138Pro)
NM_001283009.2(RTEL1):c.3413G>T (p.Arg1138Leu) rs756727783
NM_001283009.2(RTEL1):c.3416C>T (p.Pro1139Leu)
NM_001283009.2(RTEL1):c.3419A>G (p.Tyr1140Cys) rs200622914
NM_001283009.2(RTEL1):c.3425G>T (p.Gly1142Val)
NM_001283009.2(RTEL1):c.3433C>T (p.Pro1145Ser)
NM_001283009.2(RTEL1):c.3440G>A (p.Gly1147Glu)
NM_001283009.2(RTEL1):c.3443C>A (p.Pro1148His) rs116773320
NM_001283009.2(RTEL1):c.3443C>G (p.Pro1148Arg)
NM_001283009.2(RTEL1):c.3446A>C (p.Gln1149Pro)
NM_001283009.2(RTEL1):c.3446A>G (p.Gln1149Arg)
NM_001283009.2(RTEL1):c.3448G>A (p.Glu1150Lys)
NM_001283009.2(RTEL1):c.3448GAG[1] (p.Glu1151del) rs777014655
NM_001283009.2(RTEL1):c.3455G>A (p.Arg1152Lys)
NM_001283009.2(RTEL1):c.3456G>T (p.Arg1152Ser)
NM_001283009.2(RTEL1):c.3460G>C (p.Ala1154Pro)
NM_001283009.2(RTEL1):c.3461C>T (p.Ala1154Val)
NM_001283009.2(RTEL1):c.3463G>T (p.Val1155Leu)
NM_001283009.2(RTEL1):c.3470C>A (p.Pro1157His)
NM_001283009.2(RTEL1):c.3472G>A (p.Val1158Met)
NM_001283009.2(RTEL1):c.3487G>A (p.Ala1163Thr)
NM_001283009.2(RTEL1):c.3488C>T (p.Ala1163Val)
NM_001283009.2(RTEL1):c.3490C>G (p.Pro1164Ala)
NM_001283009.2(RTEL1):c.3491C>T (p.Pro1164Leu)
NM_001283009.2(RTEL1):c.3499+5_3499+6delinsTC
NM_001283009.2(RTEL1):c.3499+6G>C
NM_001283009.2(RTEL1):c.3500-10_3500-9del
NM_001283009.2(RTEL1):c.3500-3C>T
NM_001283009.2(RTEL1):c.3502C>T (p.Pro1168Ser)
NM_001283009.2(RTEL1):c.3506C>T (p.Ser1169Leu)
NM_001283009.2(RTEL1):c.3509G>T (p.Arg1170Leu)
NM_001283009.2(RTEL1):c.3514G>A (p.Glu1172Lys)
NM_001283009.2(RTEL1):c.3515A>C (p.Glu1172Ala) rs2145479213
NM_001283009.2(RTEL1):c.3515_3523del (p.Glu1172_Thr1174del) rs1258943409
NM_001283009.2(RTEL1):c.3519G>C (p.Lys1173Asn)
NM_001283009.2(RTEL1):c.3523_3531dup (p.Gly1175_Thr1177dup) rs2090951149
NM_001283009.2(RTEL1):c.3528G>C (p.Lys1176Asn) rs367598119
NM_001283009.2(RTEL1):c.3534G>C (p.Gln1178His) rs781484810
NM_001283009.2(RTEL1):c.3545C>T (p.Ser1182Leu)
NM_001283009.2(RTEL1):c.3547T>A (p.Ser1183Thr)
NM_001283009.2(RTEL1):c.3550T>G (p.Phe1184Val)
NM_001283009.2(RTEL1):c.3551T>G (p.Phe1184Cys)
NM_001283009.2(RTEL1):c.3553C>G (p.Leu1185Val) rs1439323475
NM_001283009.2(RTEL1):c.3553C>T (p.Leu1185Phe) rs1439323475
NM_001283009.2(RTEL1):c.3556A>G (p.Arg1186Gly)
NM_001283009.2(RTEL1):c.3557G>A (p.Arg1186Lys) rs2090952685
NM_001283009.2(RTEL1):c.3559C>G (p.Gln1187Glu)
NM_001283009.2(RTEL1):c.3565C>T (p.Pro1189Ser)
NM_001283009.2(RTEL1):c.3566C>T (p.Pro1189Leu)
NM_001283009.2(RTEL1):c.3569C>T (p.Ala1190Val)
NM_001283009.2(RTEL1):c.3571G>A (p.Gly1191Arg) rs2090953166
NM_001283009.2(RTEL1):c.3571G>C (p.Gly1191Arg)
NM_001283009.2(RTEL1):c.3572G>A (p.Gly1191Glu)
NM_001283009.2(RTEL1):c.3578T>G (p.Val1193Gly)
NM_001283009.2(RTEL1):c.3589G>C (p.Gly1197Arg)
NM_001283009.2(RTEL1):c.3608G>A (p.Ser1203Asn) rs2145479866
NM_001283009.2(RTEL1):c.3608G>C (p.Ser1203Thr)
NM_001283009.2(RTEL1):c.3608G>T (p.Ser1203Ile) rs2145479866
NM_001283009.2(RTEL1):c.3614C>T (p.Ser1205Phe)
NM_001283009.2(RTEL1):c.3623C>T (p.Pro1208Leu)
NM_001283009.2(RTEL1):c.3629A>C (p.His1210Pro) rs1601199974
NM_001283009.2(RTEL1):c.3629A>G (p.His1210Arg) rs1601199974
NM_001283009.2(RTEL1):c.3630C>A (p.His1210Gln)
NM_001283009.2(RTEL1):c.3631G>A (p.Gly1211Arg) rs1354993689
NM_001283009.2(RTEL1):c.3653G>A (p.Gly1218Asp)
NM_001283009.2(RTEL1):c.3658C>T (p.Pro1220Ser)
NM_001283009.2(RTEL1):c.3665G>A (p.Gly1222Glu)
NM_001283009.2(RTEL1):c.3665G>T (p.Gly1222Val) rs1177347580
NM_001283009.2(RTEL1):c.3676G>T (p.Ala1226Ser) rs371373011
NM_001283009.2(RTEL1):c.3680G>A (p.Gly1227Glu)
NM_001283009.2(RTEL1):c.3683A>G (p.Gln1228Arg)
NM_001283009.2(RTEL1):c.3684G>C (p.Gln1228His)
NM_001283009.2(RTEL1):c.3687G>C (p.Gln1229His)
NM_001283009.2(RTEL1):c.3688G>C (p.Ala1230Pro)
NM_001283009.2(RTEL1):c.3697G>A (p.Ala1233Thr) rs2090957083
NM_001283009.2(RTEL1):c.3698C>G (p.Ala1233Gly)
NM_001283009.2(RTEL1):c.369C>G (p.Ile123Met) rs2090027882
NM_001283009.2(RTEL1):c.3703G>C (p.Gly1235Arg)
NM_001283009.2(RTEL1):c.3707G>A (p.Gly1236Glu)
NM_001283009.2(RTEL1):c.3709C>T (p.Pro1237Ser)
NM_001283009.2(RTEL1):c.370A>G (p.Asn124Asp) rs1569080038
NM_001283009.2(RTEL1):c.3716C>T (p.Ser1239Leu)
NM_001283009.2(RTEL1):c.3718G>C (p.Ala1240Pro)
NM_001283009.2(RTEL1):c.3724T>A (p.Cys1242Ser)
NM_001283009.2(RTEL1):c.3725G>A (p.Cys1242Tyr)
NM_001283009.2(RTEL1):c.3725G>T (p.Cys1242Phe) rs765990015
NM_001283009.2(RTEL1):c.3734A>G (p.Gln1245Arg) rs2090958582
NM_001283009.2(RTEL1):c.3736G>A (p.Gly1246Ser) rs2145480651
NM_001283009.2(RTEL1):c.373G>A (p.Glu125Lys)
NM_001283009.2(RTEL1):c.3746C>A (p.Ala1249Glu)
NM_001283009.2(RTEL1):c.3754GTG[1] (p.Val1253del)
NM_001283009.2(RTEL1):c.3760C>G (p.Pro1254Ala)
NM_001283009.2(RTEL1):c.3761C>T (p.Pro1254Leu)
NM_001283009.2(RTEL1):c.3766C>A (p.Gln1256Lys)
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.379C>T (p.Arg127Trp)
NM_001283009.2(RTEL1):c.3807G>A (p.Trp1269Ter)
NM_001283009.2(RTEL1):c.3817C>T (p.Leu1273Phe)
NM_001283009.2(RTEL1):c.3821A>G (p.Gln1274Arg)
NM_001283009.2(RTEL1):c.3822+1G>A
NM_001283009.2(RTEL1):c.3823G>T (p.Ala1275Ser) rs2090966039
NM_001283009.2(RTEL1):c.3824C>G (p.Ala1275Gly) rs771296244
NM_001283009.2(RTEL1):c.3824C>T (p.Ala1275Val)
NM_001283009.2(RTEL1):c.3831G>T (p.Arg1277Ser)
NM_001283009.2(RTEL1):c.3834G>A (p.Met1278Ile) rs1428387350
NM_001283009.2(RTEL1):c.3841G>A (p.Ala1281Thr)
NM_001283009.2(RTEL1):c.3842C>T (p.Ala1281Val) rs1601201761
NM_001283009.2(RTEL1):c.3857C>T (p.Ser1286Phe)
NM_001283009.2(RTEL1):c.3863A>G (p.Lys1288Arg)
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
NM_001283009.2(RTEL1):c.3877C>G (p.Gln1293Glu)
NM_001283009.2(RTEL1):c.3877C>T (p.Gln1293Ter)
NM_001283009.2(RTEL1):c.3878del (p.Gln1293fs)
NM_001283009.2(RTEL1):c.3881T>C (p.Val1294Ala)
NM_001283009.2(RTEL1):c.3889C>T (p.Pro1297Ser) rs2090967528
NM_001283009.2(RTEL1):c.389C>A (p.Ser130Tyr)
NM_001283009.2(RTEL1):c.394C>A (p.Arg132=)
NM_001283009.2(RTEL1):c.394C>T (p.Arg132Trp) rs769533935
NM_001283009.2(RTEL1):c.395+4G>T rs2146151011
NM_001283009.2(RTEL1):c.396-50T>C rs1555899781
NM_001283009.2(RTEL1):c.396-8C>G
NM_001283009.2(RTEL1):c.396G>C (p.Arg132=)
NM_001283009.2(RTEL1):c.397C>A (p.Pro133Thr)
NM_001283009.2(RTEL1):c.397C>T (p.Pro133Ser) rs942504504
NM_001283009.2(RTEL1):c.422G>A (p.Arg141Gln) rs1242481082
NM_001283009.2(RTEL1):c.422G>T (p.Arg141Leu)
NM_001283009.2(RTEL1):c.424G>A (p.Glu142Lys)
NM_001283009.2(RTEL1):c.442C>T (p.Pro148Ser)
NM_001283009.2(RTEL1):c.447G>C (p.Glu149Asp)
NM_001283009.2(RTEL1):c.45C>A (p.Phe15Leu) rs1296968885
NM_001283009.2(RTEL1):c.460G>C (p.Glu154Gln) rs2146154075
NM_001283009.2(RTEL1):c.463A>G (p.Ser155Gly)
NM_001283009.2(RTEL1):c.467A>G (p.Asn156Ser) rs774724599
NM_001283009.2(RTEL1):c.477+6C>T rs1321816687
NM_001283009.2(RTEL1):c.47A>G (p.Gln16Arg)
NM_001283009.2(RTEL1):c.480C>G (p.Ile160Met)
NM_001283009.2(RTEL1):c.491G>A (p.Arg164His) rs377176432
NM_001283009.2(RTEL1):c.491G>T (p.Arg164Leu)
NM_001283009.2(RTEL1):c.499G>A (p.Val167Met)
NM_001283009.2(RTEL1):c.500T>G (p.Val167Gly) rs1601087815
NM_001283009.2(RTEL1):c.502G>A (p.Ala168Thr)
NM_001283009.2(RTEL1):c.503C>T (p.Ala168Val) rs2090048504
NM_001283009.2(RTEL1):c.508C>T (p.Arg170Cys) rs866785110
NM_001283009.2(RTEL1):c.522C>A (p.Phe174Leu)
NM_001283009.2(RTEL1):c.526A>G (p.Asn176Asp) rs2146155790
NM_001283009.2(RTEL1):c.530A>G (p.Asn177Ser)
NM_001283009.2(RTEL1):c.538+4C>G
NM_001283009.2(RTEL1):c.539-16T>A rs1460115448
NM_001283009.2(RTEL1):c.539A>G (p.Glu180Gly)
NM_001283009.2(RTEL1):c.540A>T (p.Glu180Asp) rs1301531897
NM_001283009.2(RTEL1):c.554A>G (p.Gln185Arg)
NM_001283009.2(RTEL1):c.557A>G (p.Glu186Gly)
NM_001283009.2(RTEL1):c.562G>A (p.Ala188Thr)
NM_001283009.2(RTEL1):c.56A>G (p.Lys19Arg) rs2146141516
NM_001283009.2(RTEL1):c.580A>G (p.Ile194Val) rs963605629
NM_001283009.2(RTEL1):c.595A>G (p.Lys199Glu) rs1601096259
NM_001283009.2(RTEL1):c.599G>A (p.Ser200Asn)
NM_001283009.2(RTEL1):c.599G>C (p.Ser200Thr) rs2090120174
NM_001283009.2(RTEL1):c.601G>A (p.Gly201Arg)
NM_001283009.2(RTEL1):c.613A>G (p.Arg205Gly)
NM_001283009.2(RTEL1):c.615-3C>G rs2090159810
NM_001283009.2(RTEL1):c.632T>A (p.Leu211Gln)
NM_001283009.2(RTEL1):c.635C>T (p.Ser212Phe)
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val) rs1235107432
NM_001283009.2(RTEL1):c.667T>C (p.Phe223Leu)
NM_001283009.2(RTEL1):c.670A>G (p.Met224Val)
NM_001283009.2(RTEL1):c.674C>G (p.Pro225Arg)
NM_001283009.2(RTEL1):c.674C>T (p.Pro225Leu)
NM_001283009.2(RTEL1):c.67G>A (p.Glu23Lys)
NM_001283009.2(RTEL1):c.680A>G (p.Asn227Ser)
NM_001283009.2(RTEL1):c.682T>C (p.Tyr228His)
NM_001283009.2(RTEL1):c.683A>G (p.Tyr228Cys)
NM_001283009.2(RTEL1):c.693T>A (p.Asp231Glu)
NM_001283009.2(RTEL1):c.695C>T (p.Ala232Val) rs1035560386
NM_001283009.2(RTEL1):c.698A>G (p.Lys233Arg)
NM_001283009.2(RTEL1):c.699+3G>A
NM_001283009.2(RTEL1):c.699+3G>T
NM_001283009.2(RTEL1):c.699+6G>T
NM_001283009.2(RTEL1):c.704G>A (p.Arg235His) rs549397879
NM_001283009.2(RTEL1):c.712C>T (p.His238Tyr)
NM_001283009.2(RTEL1):c.715A>G (p.Asn239Asp)
NM_001283009.2(RTEL1):c.716A>G (p.Asn239Ser) rs375403784
NM_001283009.2(RTEL1):c.717C>G (p.Asn239Lys)
NM_001283009.2(RTEL1):c.721G>A (p.Asp241Asn)
NM_001283009.2(RTEL1):c.734C>T (p.Thr245Ile)
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.755C>T (p.Ala252Val)
NM_001283009.2(RTEL1):c.758A>T (p.His253Leu) rs2146193406
NM_001283009.2(RTEL1):c.75G>A (p.Met25Ile)
NM_001283009.2(RTEL1):c.763G>C (p.Val255Leu)
NM_001283009.2(RTEL1):c.775T>C (p.Cys259Arg)
NM_001283009.2(RTEL1):c.77C>T (p.Thr26Ile)
NM_001283009.2(RTEL1):c.802A>G (p.Thr268Ala) rs115889392
NM_001283009.2(RTEL1):c.806C>T (p.Pro269Leu)
NM_001283009.2(RTEL1):c.809A>C (p.His270Pro)
NM_001283009.2(RTEL1):c.80A>G (p.Lys27Arg) rs1240428205
NM_001283009.2(RTEL1):c.832G>A (p.Val278Ile)
NM_001283009.2(RTEL1):c.835A>C (p.Ile279Leu)
NM_001283009.2(RTEL1):c.836T>C (p.Ile279Thr)
NM_001283009.2(RTEL1):c.83T>G (p.Val28Gly)
NM_001283009.2(RTEL1):c.842A>G (p.Gln281Arg)
NM_001283009.2(RTEL1):c.865G>T (p.Ala289Ser)
NM_001283009.2(RTEL1):c.878G>A (p.Gly293Asp) rs779999090
NM_001283009.2(RTEL1):c.884C>G (p.Pro295Arg) rs781117322
NM_001283009.2(RTEL1):c.889C>G (p.Pro297Ala)
NM_001283009.2(RTEL1):c.889C>T (p.Pro297Ser)
NM_001283009.2(RTEL1):c.893A>C (p.Glu298Ala) rs371358427
NM_001283009.2(RTEL1):c.897C>G (p.Phe299Leu)
NM_001283009.2(RTEL1):c.898A>T (p.Ser300Cys) rs1601119963
NM_001283009.2(RTEL1):c.900C>G (p.Ser300Arg)
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.904G>A (p.Asp302Asn)
NM_001283009.2(RTEL1):c.904G>T (p.Asp302Tyr)
NM_001283009.2(RTEL1):c.915C>G (p.Ser305Arg)
NM_001283009.2(RTEL1):c.916C>T (p.Pro306Ser)
NM_001283009.2(RTEL1):c.919+3G>A
NM_001283009.2(RTEL1):c.919+3G>T
NM_001283009.2(RTEL1):c.919+4C>T
NM_001283009.2(RTEL1):c.919+5G>A
NM_001283009.2(RTEL1):c.920-13T>A
NM_001283009.2(RTEL1):c.934C>G (p.Leu312Val)
NM_001283009.2(RTEL1):c.937G>A (p.Glu313Lys)
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
NM_001283009.2(RTEL1):c.958A>G (p.Met320Val)
NM_001283009.2(RTEL1):c.959-5C>G rs2090398159
NM_001283009.2(RTEL1):c.971G>T (p.Arg324Leu) rs113684274
NM_001283009.2(RTEL1):c.983C>A (p.Ala328Asp) rs561033103
NM_001283009.2(RTEL1):c.985A>G (p.Ile329Val)
NM_001283009.2(RTEL1):c.9G>C (p.Lys3Asn)
NM_002582.4(PARN):c.1016ACA[1] (p.Asn340del) rs2151754075
NM_002582.4(PARN):c.1046G>T (p.Arg349Leu)
NM_002582.4(PARN):c.1048T>G (p.Leu350Val)
NM_002582.4(PARN):c.1052A>C (p.Lys351Thr)
NM_002582.4(PARN):c.1055A>G (p.Glu352Gly)
NM_002582.4(PARN):c.1069C>A (p.Pro357Thr) rs767096267
NM_002582.4(PARN):c.1075A>C (p.Lys359Gln)
NM_002582.4(PARN):c.1075A>G (p.Lys359Glu)
NM_002582.4(PARN):c.1078G>T (p.Val360Phe)
NM_002582.4(PARN):c.1079T>C (p.Val360Ala)
NM_002582.4(PARN):c.1081+3A>G
NM_002582.4(PARN):c.1094G>T (p.Gly365Val) rs1452851028
NM_002582.4(PARN):c.1109A>G (p.Asp370Gly)
NM_002582.4(PARN):c.112C>T (p.Pro38Ser) rs1972800939
NM_002582.4(PARN):c.113C>T (p.Pro38Leu) rs1972800795
NM_002582.4(PARN):c.1142A>G (p.Tyr381Cys)
NM_002582.4(PARN):c.1148C>G (p.Ala383Gly)
NM_002582.4(PARN):c.1159G>A (p.Gly387Arg)
NM_002582.4(PARN):c.1168T>G (p.Phe390Val)
NM_002582.4(PARN):c.1169T>G (p.Phe390Cys)
NM_002582.4(PARN):c.116C>T (p.Ser39Leu)
NM_002582.4(PARN):c.1177A>C (p.Met393Leu)
NM_002582.4(PARN):c.1178T>C (p.Met393Thr)
NM_002582.4(PARN):c.1192+5G>C
NM_002582.4(PARN):c.1193G>T (p.Gly398Val) rs1447922914
NM_002582.4(PARN):c.119T>C (p.Val40Ala)
NM_002582.4(PARN):c.1200T>A (p.Phe400Leu)
NM_002582.4(PARN):c.1216A>C (p.Ile406Leu)
NM_002582.4(PARN):c.1219C>G (p.His407Asp) rs1596738260
NM_002582.4(PARN):c.1222G>C (p.Val408Leu)
NM_002582.4(PARN):c.122C>G (p.Ser41Cys)
NM_002582.4(PARN):c.122C>T (p.Ser41Phe) rs1433689115
NM_002582.4(PARN):c.1244T>C (p.Ile415Thr)
NM_002582.4(PARN):c.1249C>A (p.Pro417Thr)
NM_002582.4(PARN):c.125C>T (p.Ala42Val) rs1972799374
NM_002582.4(PARN):c.1262+3A>G
NM_002582.4(PARN):c.1262+4A>G
NM_002582.4(PARN):c.1279G>A (p.Val427Ile) rs762139840
NM_002582.4(PARN):c.1282A>G (p.Met428Val) rs1967640251
NM_002582.4(PARN):c.1297C>A (p.Leu433Ile) rs201782700
NM_002582.4(PARN):c.1297C>G (p.Leu433Val) rs201782700
NM_002582.4(PARN):c.1317C>G (p.Asp439Glu) rs2151710973
NM_002582.4(PARN):c.1318T>C (p.Leu440=)
NM_002582.4(PARN):c.1319T>C (p.Leu440Ser) rs1967506241
NM_002582.4(PARN):c.1337A>G (p.His446Arg)
NM_002582.4(PARN):c.1339G>A (p.Val447Ile)
NM_002582.4(PARN):c.1351A>G (p.Thr451Ala) rs984383174
NM_002582.4(PARN):c.1354T>G (p.Phe452Val)
NM_002582.4(PARN):c.1358C>A (p.Pro453His) rs1967502478
NM_002582.4(PARN):c.1360A>G (p.Lys454Glu)
NM_002582.4(PARN):c.136G>A (p.Gly46Ser)
NM_002582.4(PARN):c.1378G>A (p.Asp460Asn) rs747006604
NM_002582.4(PARN):c.1385A>G (p.Tyr462Cys) rs1967500569
NM_002582.4(PARN):c.1396A>T (p.Ser466Cys)
NM_002582.4(PARN):c.139T>A (p.Phe47Ile)
NM_002582.4(PARN):c.1416G>C (p.Gln472His)
NM_002582.4(PARN):c.1417A>T (p.Ile473Leu)
NM_002582.4(PARN):c.1421C>T (p.Ser474Phe) rs1967339819
NM_002582.4(PARN):c.1427T>C (p.Ile476Thr)
NM_002582.4(PARN):c.1430A>G (p.Asp477Gly)
NM_002582.4(PARN):c.1433A>G (p.Asp478Gly)
NM_002582.4(PARN):c.1456A>G (p.Ser486Gly)
NM_002582.4(PARN):c.145A>G (p.Thr49Ala)
NM_002582.4(PARN):c.1462C>T (p.Pro488Ser)
NM_002582.4(PARN):c.1469A>G (p.Gln490Arg) rs2151705664
NM_002582.4(PARN):c.146C>T (p.Thr49Ile)
NM_002582.4(PARN):c.1474A>C (p.Lys492Gln) rs759449443
NM_002582.4(PARN):c.1483G>A (p.Val495Ile)
NM_002582.4(PARN):c.1490C>A (p.Thr497Asn)
NM_002582.4(PARN):c.1490C>T (p.Thr497Ile) rs1963456314
NM_002582.4(PARN):c.1502C>T (p.Ala501Val)
NM_002582.4(PARN):c.1511A>G (p.Tyr504Cys) rs1181154287
NM_002582.4(PARN):c.152A>G (p.Glu51Gly)
NM_002582.4(PARN):c.1537A>G (p.Met513Val)
NM_002582.4(PARN):c.1539G>A (p.Met513Ile)
NM_002582.4(PARN):c.1544G>T (p.Arg515Ile)
NM_002582.4(PARN):c.1544_1545delinsTT (p.Arg515Ile) rs2151597307
NM_002582.4(PARN):c.154G>C (p.Glu52Gln) rs2151824669
NM_002582.4(PARN):c.1559A>G (p.Lys520Arg)
NM_002582.4(PARN):c.156G>C (p.Glu52Asp)
NM_002582.4(PARN):c.1584A>C (p.Glu528Asp)
NM_002582.4(PARN):c.15_17del (p.Arg5del)
NM_002582.4(PARN):c.1600G>A (p.Ala534Thr)
NM_002582.4(PARN):c.161A>T (p.Tyr54Phe) rs1972795595
NM_002582.4(PARN):c.1625A>G (p.Gln542Arg)
NM_002582.4(PARN):c.1627T>C (p.Cys543Arg) rs2151597189
NM_002582.4(PARN):c.1630A>C (p.Ile544Leu)
NM_002582.4(PARN):c.1635_1643del (p.Tyr546_Leu548del) rs2151597160
NM_002582.4(PARN):c.1650T>A (p.Asn550Lys) rs1368350204
NM_002582.4(PARN):c.1652A>C (p.His551Pro) rs2151597154
NM_002582.4(PARN):c.1654T>C (p.Tyr552His) rs965806129
NM_002582.4(PARN):c.1661G>A (p.Arg554His) rs372489171
NM_002582.4(PARN):c.1661G>T (p.Arg554Leu) rs372489171
NM_002582.4(PARN):c.1667A>G (p.Asn556Ser)
NM_002582.4(PARN):c.1670+5G>C
NM_002582.4(PARN):c.1673T>G (p.Phe558Cys)
NM_002582.4(PARN):c.1678G>A (p.Ala560Thr)
NM_002582.4(PARN):c.1684A>G (p.Ser562Gly)
NM_002582.4(PARN):c.1697A>G (p.Lys566Arg) rs1567284498
NM_002582.4(PARN):c.169C>T (p.Leu57Phe)
NM_002582.4(PARN):c.1700G>A (p.Arg567Lys)
NM_002582.4(PARN):c.1702A>G (p.Asn568Asp)
NM_002582.4(PARN):c.1707G>T (p.Leu569Phe)
NM_002582.4(PARN):c.170T>C (p.Leu57Pro) rs2151824639
NM_002582.4(PARN):c.1715G>A (p.Ser572Asn) rs1024969576
NM_002582.4(PARN):c.1727C>G (p.Ala576Gly)
NM_002582.4(PARN):c.1750G>A (p.Gly584Arg)
NM_002582.4(PARN):c.1751G>A (p.Gly584Glu) rs1961230542
NM_002582.4(PARN):c.1762G>A (p.Asp588Asn)
NM_002582.4(PARN):c.1762G>T (p.Asp588Tyr) rs750247455
NM_002582.4(PARN):c.1779G>T (p.Gln593His)
NM_002582.4(PARN):c.178-17T>A
NM_002582.4(PARN):c.178-5T>G rs1972739623
NM_002582.4(PARN):c.1781C>A (p.Thr594Asn)
NM_002582.4(PARN):c.1783G>A (p.Asp595Asn)
NM_002582.4(PARN):c.1787C>T (p.Ser596Phe)
NM_002582.4(PARN):c.1789T>C (p.Cys597Arg) rs1596433239
NM_002582.4(PARN):c.1796A>G (p.Glu599Gly) rs2151556910
NM_002582.4(PARN):c.1817A>G (p.Lys606Arg)
NM_002582.4(PARN):c.1838G>A (p.Arg613Lys)
NM_002582.4(PARN):c.1840A>G (p.Met614Val)
NM_002582.4(PARN):c.1841T>C (p.Met614Thr) rs1961224273
NM_002582.4(PARN):c.1843AAG[3] (p.Lys616dup) rs1961223739
NM_002582.4(PARN):c.184A>G (p.Met62Val) rs756788280
NM_002582.4(PARN):c.1850A>T (p.Glu617Val) rs1340012887
NM_002582.4(PARN):c.1858C>T (p.Pro620Ser)
NM_002582.4(PARN):c.1864+5G>T
NM_002582.4(PARN):c.1865G>A (p.Gly622Glu) rs1567278518
NM_002582.4(PARN):c.1878G>T (p.Lys626Asn)
NM_002582.4(PARN):c.1881C>A (p.Asn627Lys)
NM_002582.4(PARN):c.1881C>G (p.Asn627Lys)
NM_002582.4(PARN):c.1892C>G (p.Thr631Arg)
NM_002582.4(PARN):c.1895T>G (p.Leu632Arg)
NM_002582.4(PARN):c.189C>G (p.Asp63Glu)
NM_002582.4(PARN):c.18C>G (p.Ser6Arg)
NM_002582.4(PARN):c.19+3G>A
NM_002582.4(PARN):c.1900G>A (p.Glu634Lys)
NM_002582.4(PARN):c.1911C>A (p.Asp637Glu)
NM_002582.4(PARN):c.1915T>C (p.Trp639Arg)
NM_002582.4(PARN):c.1916G>A (p.Trp639Ter) rs1960716266
NM_002582.4(PARN):c.192T>G (p.Phe64Leu)
NM_002582.4(PARN):c.193T>A (p.Leu65Met)
NM_002582.4(PARN):c.201T>G (p.Phe67Leu)
NM_002582.4(PARN):c.20A>C (p.Asn7Thr)
NM_002582.4(PARN):c.218C>T (p.Thr73Ile) rs2151823476
NM_002582.4(PARN):c.227A>G (p.Tyr76Cys) rs752306700
NM_002582.4(PARN):c.233A>G (p.Tyr78Cys)
NM_002582.4(PARN):c.242C>T (p.Ser81Leu)
NM_002582.4(PARN):c.245+10_245+34del
NM_002582.4(PARN):c.245+3A>G
NM_002582.4(PARN):c.254C>G (p.Thr85Arg)
NM_002582.4(PARN):c.254C>T (p.Thr85Met)
NM_002582.4(PARN):c.259T>G (p.Ser87Ala)
NM_002582.4(PARN):c.270C>T (p.Phe90=)
NM_002582.4(PARN):c.272A>T (p.Tyr91Phe) rs201765587
NM_002582.4(PARN):c.278T>C (p.Phe93Ser)
NM_002582.4(PARN):c.293A>G (p.Asn98Ser)
NM_002582.4(PARN):c.296G>C (p.Arg99Thr)
NM_002582.4(PARN):c.298T>A (p.Ser100Thr)
NM_002582.4(PARN):c.299C>A (p.Ser100Tyr) rs759622779
NM_002582.4(PARN):c.308A>T (p.Asp103Val)
NM_002582.4(PARN):c.314A>G (p.Lys105Arg)
NM_002582.4(PARN):c.319G>A (p.Val107Ile) rs1338274189
NM_002582.4(PARN):c.327+3A>C
NM_002582.4(PARN):c.328-17T>G
NM_002582.4(PARN):c.32A>G (p.Asn11Ser)
NM_002582.4(PARN):c.336C>A (p.Ser112Arg)
NM_002582.4(PARN):c.338T>A (p.Ile113Asn) rs376765477
NM_002582.4(PARN):c.338T>C (p.Ile113Thr)
NM_002582.4(PARN):c.358G>A (p.Gly120Arg) rs1596886075
NM_002582.4(PARN):c.35T>A (p.Leu12His)
NM_002582.4(PARN):c.364G>A (p.Asp122Asn)
NM_002582.4(PARN):c.364G>C (p.Asp122His) rs779555557
NM_002582.4(PARN):c.37C>T (p.His13Tyr)
NM_002582.4(PARN):c.388+6A>T
NM_002582.4(PARN):c.388G>A (p.Gly130Arg)
NM_002582.4(PARN):c.391A>G (p.Ile131Val)
NM_002582.4(PARN):c.394C>G (p.Pro132Ala)
NM_002582.4(PARN):c.403A>G (p.Asn135Asp)
NM_002582.4(PARN):c.418A>G (p.Arg140Gly) rs778885248
NM_002582.4(PARN):c.434A>C (p.Gln145Pro) rs1195236338
NM_002582.4(PARN):c.466G>A (p.Ala156Thr)
NM_002582.4(PARN):c.467C>T (p.Ala156Val) rs1341620972
NM_002582.4(PARN):c.470G>A (p.Gly157Glu)
NM_002582.4(PARN):c.473C>G (p.Ala158Gly)
NM_002582.4(PARN):c.47A>G (p.Tyr16Cys)
NM_002582.4(PARN):c.512T>C (p.Val171Ala)
NM_002582.4(PARN):c.514A>C (p.Thr172Pro)
NM_002582.4(PARN):c.51G>C (p.Gln17His)
NM_002582.4(PARN):c.520C>A (p.Pro174Thr)
NM_002582.4(PARN):c.523G>A (p.Glu175Lys)
NM_002582.4(PARN):c.543T>G (p.Ile181Met)
NM_002582.4(PARN):c.550G>A (p.Val184Met)
NM_002582.4(PARN):c.551T>G (p.Val184Gly)
NM_002582.4(PARN):c.554T>C (p.Val185Ala)
NM_002582.4(PARN):c.555-16T>A
NM_002582.4(PARN):c.555-3C>T
NM_002582.4(PARN):c.566A>G (p.Glu189Gly)
NM_002582.4(PARN):c.569A>G (p.Asp190Gly) rs769599205
NM_002582.4(PARN):c.57A>G (p.Ile19Met) rs1972904968
NM_002582.4(PARN):c.587A>C (p.Glu196Ala)
NM_002582.4(PARN):c.591C>T (p.Asn197=)
NM_002582.4(PARN):c.59A>G (p.Glu20Gly) rs2151826832
NM_002582.4(PARN):c.600G>C (p.Leu200Phe)
NM_002582.4(PARN):c.616A>G (p.Thr206Ala)
NM_002582.4(PARN):c.620+3_620+4delinsAG rs1971361914
NM_002582.4(PARN):c.621G>T (p.Gly207=) rs964560089
NM_002582.4(PARN):c.625C>G (p.Gln209Glu) rs190870967
NM_002582.4(PARN):c.628A>G (p.Arg210Gly)
NM_002582.4(PARN):c.635T>C (p.Leu212Pro)
NM_002582.4(PARN):c.644A>G (p.Gln215Arg)
NM_002582.4(PARN):c.655T>G (p.Trp219Gly) rs1971316192
NM_002582.4(PARN):c.659+2dup
NM_002582.4(PARN):c.659+4_659+7del rs759131762
NM_002582.4(PARN):c.662A>G (p.Tyr221Cys)
NM_002582.4(PARN):c.664C>G (p.Pro222Ala) rs1971195178
NM_002582.4(PARN):c.665C>G (p.Pro222Arg) rs770353163
NM_002582.4(PARN):c.671G>A (p.Gly224Asp)
NM_002582.4(PARN):c.689T>C (p.Leu230Ser)
NM_002582.4(PARN):c.697G>A (p.Glu233Lys)
NM_002582.4(PARN):c.707A>G (p.Glu236Gly)
NM_002582.4(PARN):c.707A>T (p.Glu236Val)
NM_002582.4(PARN):c.70T>C (p.Phe24Leu)
NM_002582.4(PARN):c.712T>C (p.Tyr238His) rs1330990528
NM_002582.4(PARN):c.715A>G (p.Ile239Val)
NM_002582.4(PARN):c.718G>A (p.Val240Ile)
NM_002582.4(PARN):c.718G>C (p.Val240Leu)
NM_002582.4(PARN):c.724A>G (p.Ser242Gly) rs2151787480
NM_002582.4(PARN):c.729A>C (p.Lys243Asn) rs1172901128
NM_002582.4(PARN):c.734A>G (p.Asp245Gly)
NM_002582.4(PARN):c.736G>A (p.Glu246Lys)
NM_002582.4(PARN):c.736GAA[2] (p.Glu248del)
NM_002582.4(PARN):c.746G>C (p.Arg249Pro)
NM_002582.4(PARN):c.748A>C (p.Lys250Gln)
NM_002582.4(PARN):c.749A>G (p.Lys250Arg)
NM_002582.4(PARN):c.751A>G (p.Arg251Gly)
NM_002582.4(PARN):c.755G>A (p.Arg252Lys)
NM_002582.4(PARN):c.755G>C (p.Arg252Thr)
NM_002582.4(PARN):c.761A>T (p.Gln254Leu)
NM_002582.4(PARN):c.782A>G (p.Gln261Arg)
NM_002582.4(PARN):c.783+4A>C
NM_002582.4(PARN):c.783+4A>T rs1317955775
NM_002582.4(PARN):c.783+5T>C rs2151787329
NM_002582.4(PARN):c.783G>A (p.Gln261=) rs1261797823
NM_002582.4(PARN):c.787G>C (p.Glu263Gln)
NM_002582.4(PARN):c.787_788delinsTT (p.Glu263Leu)
NM_002582.4(PARN):c.790C>G (p.Leu264Val)
NM_002582.4(PARN):c.7A>G (p.Ile3Val) rs1567474981
NM_002582.4(PARN):c.823C>G (p.His275Asp)
NM_002582.4(PARN):c.826G>A (p.Ala276Thr)
NM_002582.4(PARN):c.830T>G (p.Ile277Ser)
NM_002582.4(PARN):c.839C>T (p.Ser280Leu) rs774827522
NM_002582.4(PARN):c.841-3T>A
NM_002582.4(PARN):c.842G>A (p.Gly281Glu)
NM_002582.4(PARN):c.851T>G (p.Val284Gly)
NM_002582.4(PARN):c.854T>C (p.Ile285Thr) rs1970312112
NM_002582.4(PARN):c.865A>G (p.Met289Val)
NM_002582.4(PARN):c.866T>C (p.Met289Thr)
NM_002582.4(PARN):c.867G>A (p.Met289Ile)
NM_002582.4(PARN):c.872T>G (p.Leu291Trp)
NM_002582.4(PARN):c.889G>A (p.Val297Ile)
NM_002582.4(PARN):c.904T>C (p.Cys302Arg)
NM_002582.4(PARN):c.908C>G (p.Pro303Arg) rs1211898404
NM_002582.4(PARN):c.918+4A>G
NM_002582.4(PARN):c.918G>A (p.Ala306=) rs2151767064
NM_002582.4(PARN):c.919-5T>A rs1969855483
NM_002582.4(PARN):c.919G>A (p.Asp307Asn) rs755489002
NM_002582.4(PARN):c.924A>C (p.Leu308Phe) rs1336426171
NM_002582.4(PARN):c.937G>A (p.Glu313Lys) rs2151757148
NM_002582.4(PARN):c.952G>A (p.Val318Ile)
NM_002582.4(PARN):c.973A>G (p.Thr325Ala)
NM_002582.4(PARN):c.980T>C (p.Leu327Ser)
NM_002582.4(PARN):c.988A>G (p.Ser330Gly)
NM_002582.4(PARN):c.991A>G (p.Thr331Ala)
NM_002582.4(PARN):c.997C>A (p.Pro333Thr)
NM_004990.4(MARS1):c.1012A>C (p.Ile338Leu)
NM_004990.4(MARS1):c.1013T>C (p.Ile338Thr)
NM_004990.4(MARS1):c.1016T>C (p.Ile339Thr)
NM_004990.4(MARS1):c.1019A>G (p.His340Arg)
NM_004990.4(MARS1):c.1024G>A (p.Asp342Asn)
NM_004990.4(MARS1):c.1027A>G (p.Ile343Val)
NM_004990.4(MARS1):c.1027_1028del (p.Ile343fs)
NM_004990.4(MARS1):c.1034G>A (p.Arg345His)
NM_004990.4(MARS1):c.1043A>T (p.Asn348Ile)
NM_004990.4(MARS1):c.1052T>C (p.Phe351Ser) rs2140017178
NM_004990.4(MARS1):c.109+7GTGCTG[3] rs763091763
NM_004990.4(MARS1):c.1090A>G (p.Lys364Glu)
NM_004990.4(MARS1):c.1091+3A>G rs2140017230
NM_004990.4(MARS1):c.1092-3C>T
NM_004990.4(MARS1):c.1097C>G (p.Thr366Ser)
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
NM_004990.4(MARS1):c.1102G>T (p.Asp368Tyr)
NM_004990.4(MARS1):c.1126C>T (p.Arg376Ter)
NM_004990.4(MARS1):c.113G>T (p.Cys38Phe)
NM_004990.4(MARS1):c.1145A>C (p.Asp382Ala)
NM_004990.4(MARS1):c.1149del (p.Val384fs)
NM_004990.4(MARS1):c.1151T>C (p.Val384Ala)
NM_004990.4(MARS1):c.1159C>G (p.Leu387Val)
NM_004990.4(MARS1):c.115G>A (p.Val39Met) rs564742568
NM_004990.4(MARS1):c.115G>C (p.Val39Leu)
NM_004990.4(MARS1):c.1165T>C (p.Cys389Arg)
NM_004990.4(MARS1):c.1171C>G (p.His391Asp)
NM_004990.4(MARS1):c.1195C>T (p.Arg399Cys)
NM_004990.4(MARS1):c.119del (p.Val40fs)
NM_004990.4(MARS1):c.1210G>A (p.Val404Met) rs370559405
NM_004990.4(MARS1):c.1229A>G (p.Tyr410Cys)
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val) rs1594821386
NM_004990.4(MARS1):c.1270C>G (p.Leu424Val) rs2140019644
NM_004990.4(MARS1):c.1271T>C (p.Leu424Pro)
NM_004990.4(MARS1):c.1273A>G (p.Ile425Val)
NM_004990.4(MARS1):c.1285G>A (p.Glu429Lys)
NM_004990.4(MARS1):c.1293+5G>A rs1876872609
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala) rs780028144
NM_004990.4(MARS1):c.1334A>G (p.Gln445Arg)
NM_004990.4(MARS1):c.133C>T (p.Arg45Trp)
NM_004990.4(MARS1):c.1369-6_1369-2del
NM_004990.4(MARS1):c.136C>T (p.Pro46Ser)
NM_004990.4(MARS1):c.137C>G (p.Pro46Arg)
NM_004990.4(MARS1):c.1392G>T (p.Trp464Cys)
NM_004990.4(MARS1):c.13G>A (p.Val5Met) rs587777227
NM_004990.4(MARS1):c.1432G>A (p.Ala478Thr)
NM_004990.4(MARS1):c.1436A>G (p.Gln479Arg)
NM_004990.4(MARS1):c.1450T>C (p.Ser484Pro)
NM_004990.4(MARS1):c.1460G>A (p.Arg487Gln)
NM_004990.4(MARS1):c.1480T>C (p.Cys494Arg)
NM_004990.4(MARS1):c.1489C>T (p.Arg497Ter)
NM_004990.4(MARS1):c.148G>A (p.Val50Ile)
NM_004990.4(MARS1):c.1490G>A (p.Arg497Gln)
NM_004990.4(MARS1):c.1500del (p.Lys500fs) rs754505518
NM_004990.4(MARS1):c.1513G>A (p.Val505Ile)
NM_004990.4(MARS1):c.1514dup (p.Pro506fs) rs1877536163
NM_004990.4(MARS1):c.1518del (p.Pro506_Leu507insTer) rs2140033925
NM_004990.4(MARS1):c.1531_1539+14del
NM_004990.4(MARS1):c.1534del (p.Asp512fs)
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly) rs567401794
NM_004990.4(MARS1):c.1539+3A>G
NM_004990.4(MARS1):c.1539G>T (p.Lys513Asn)
NM_004990.4(MARS1):c.1545C>G (p.Phe515Leu)
NM_004990.4(MARS1):c.155A>G (p.Gln52Arg)
NM_004990.4(MARS1):c.1571G>A (p.Gly524Asp)
NM_004990.4(MARS1):c.1595A>G (p.Tyr532Cys)
NM_004990.4(MARS1):c.1598C>G (p.Thr533Arg)
NM_004990.4(MARS1):c.1635+4A>G
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly) rs1875708945
NM_004990.4(MARS1):c.165C>G (p.Ser55Arg)
NM_004990.4(MARS1):c.1662_1667del (p.Lys554_Asp555del) rs1555168270
NM_004990.4(MARS1):c.1705C>G (p.Leu569Val)
NM_004990.4(MARS1):c.1709_1710delinsTT (p.Gly570Val)
NM_004990.4(MARS1):c.1721A>C (p.Asn574Thr)
NM_004990.4(MARS1):c.1727C>G (p.Thr576Ser) rs1357906437
NM_004990.4(MARS1):c.1736G>A (p.Ser579Asn)
NM_004990.4(MARS1):c.1738C>T (p.His580Tyr)
NM_004990.4(MARS1):c.1754-1G>A rs1594833474
NM_004990.4(MARS1):c.1754-1G>C rs1594833474
NM_004990.4(MARS1):c.1754A>C (p.Glu585Ala)
NM_004990.4(MARS1):c.1802G>C (p.Gly601Ala) rs2140034963
NM_004990.4(MARS1):c.1809T>A (p.Phe603Leu) rs2140034972
NM_004990.4(MARS1):c.180C>A (p.Phe60Leu)
NM_004990.4(MARS1):c.1818G>A (p.Met606Ile)
NM_004990.4(MARS1):c.1829C>T (p.Thr610Met)
NM_004990.4(MARS1):c.1853G>A (p.Arg618His)
NM_004990.4(MARS1):c.1853G>T (p.Arg618Leu)
NM_004990.4(MARS1):c.1859_1862del (p.Tyr620fs)
NM_004990.4(MARS1):c.1859_1862dup (p.Leu622fs)
NM_004990.4(MARS1):c.1870A>G (p.Ile624Val)
NM_004990.4(MARS1):c.1874G>A (p.Arg625Gln)
NM_004990.4(MARS1):c.1874G>T (p.Arg625Leu)
NM_004990.4(MARS1):c.1891A>C (p.Ser631Arg)
NM_004990.4(MARS1):c.1892G>T (p.Ser631Ile)
NM_004990.4(MARS1):c.1901C>T (p.Ser634Phe) rs769611828
NM_004990.4(MARS1):c.1906A>G (p.Thr636Ala)
NM_004990.4(MARS1):c.1907C>T (p.Thr636Met)
NM_004990.4(MARS1):c.1910dup (p.Asp637fs)
NM_004990.4(MARS1):c.1925A>G (p.Asn642Ser)
NM_004990.4(MARS1):c.1932_1933insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGAATAATTCT (p.Glu645delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_004990.4(MARS1):c.1940T>C (p.Leu647Pro)
NM_004990.4(MARS1):c.1967+3A>G rs183042263
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
NM_004990.4(MARS1):c.1979T>G (p.Phe660Cys) rs2140036938
NM_004990.4(MARS1):c.200+4A>G rs774241581
NM_004990.4(MARS1):c.200+4A>T
NM_004990.4(MARS1):c.200G>A (p.Arg67Gln)
NM_004990.4(MARS1):c.201-14C>G
NM_004990.4(MARS1):c.2017G>A (p.Val673Met)
NM_004990.4(MARS1):c.2017G>T (p.Val673Leu) rs145672326
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2038C>T (p.Arg680Cys)
NM_004990.4(MARS1):c.2039G>A (p.Arg680His)
NM_004990.4(MARS1):c.2071C>T (p.His691Tyr)
NM_004990.4(MARS1):c.2077C>T (p.His693Tyr)
NM_004990.4(MARS1):c.20_22del (p.Asp7del) rs1064796198
NM_004990.4(MARS1):c.2100-1G>A
NM_004990.4(MARS1):c.2111C>G (p.Ala704Gly)
NM_004990.4(MARS1):c.2114dup (p.Leu705fs) rs777324495
NM_004990.4(MARS1):c.2117G>A (p.Arg706His)
NM_004990.4(MARS1):c.212del (p.Leu71fs) rs751080704
NM_004990.4(MARS1):c.212dup (p.Leu71fs)
NM_004990.4(MARS1):c.2131A>G (p.Ile711Val)
NM_004990.4(MARS1):c.2134T>C (p.Ser712Pro)
NM_004990.4(MARS1):c.2149C>A (p.Gln717Lys)
NM_004990.4(MARS1):c.2150A>G (p.Gln717Arg)
NM_004990.4(MARS1):c.2155A>G (p.Ile719Val)
NM_004990.4(MARS1):c.2161G>A (p.Val721Met)
NM_004990.4(MARS1):c.2204+3A>C rs752787448
NM_004990.4(MARS1):c.2204+3A>G
NM_004990.4(MARS1):c.2204+4_2204+7del rs1327486572
NM_004990.4(MARS1):c.2204+6T>C
NM_004990.4(MARS1):c.2204+9G>A
NM_004990.4(MARS1):c.2209C>T (p.Arg737Trp) rs139536122
NM_004990.4(MARS1):c.2224A>G (p.Thr742Ala) rs2140037579
NM_004990.4(MARS1):c.2227G>A (p.Gly743Ser)
NM_004990.4(MARS1):c.2241T>G (p.Asn747Lys)
NM_004990.4(MARS1):c.2244A>G (p.Ile748Met)
NM_004990.4(MARS1):c.2245G>C (p.Ala749Pro)
NM_004990.4(MARS1):c.2246C>T (p.Ala749Val)
NM_004990.4(MARS1):c.2264T>C (p.Met755Thr)
NM_004990.4(MARS1):c.2273C>T (p.Pro758Leu)
NM_004990.4(MARS1):c.2277_2278del (p.Met760fs)
NM_004990.4(MARS1):c.227A>C (p.Glu76Ala)
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile) rs1594836361
NM_004990.4(MARS1):c.2286G>A (p.Thr762=)
NM_004990.4(MARS1):c.2291G>C (p.Ser764Thr) rs1565652335
NM_004990.4(MARS1):c.2302C>G (p.Gln768Glu)
NM_004990.4(MARS1):c.2314C>T (p.Gln772Ter) rs1248367484
NM_004990.4(MARS1):c.2323C>G (p.Pro775Ala)
NM_004990.4(MARS1):c.2333G>A (p.Cys778Tyr)
NM_004990.4(MARS1):c.2336G>C (p.Ser779Thr)
NM_004990.4(MARS1):c.2356C>T (p.Leu786=)
NM_004990.4(MARS1):c.2366T>A (p.Leu789Ter)
NM_004990.4(MARS1):c.2378del (p.His793fs)
NM_004990.4(MARS1):c.2380C>A (p.Gln794Lys)
NM_004990.4(MARS1):c.2391+1G>C
NM_004990.4(MARS1):c.2398C>T (p.Pro800Ser)
NM_004990.4(MARS1):c.2422G>T (p.Asp808Tyr)
NM_004990.4(MARS1):c.2438T>A (p.Leu813Ter)
NM_004990.4(MARS1):c.2446C>G (p.Arg816Gly) rs368028253
NM_004990.4(MARS1):c.2458G>A (p.Gly820Ser)
NM_004990.4(MARS1):c.2462A>G (p.Gln821Arg)
NM_004990.4(MARS1):c.2489T>C (p.Val830Ala)
NM_004990.4(MARS1):c.2504C>A (p.Thr835Lys)
NM_004990.4(MARS1):c.2504del (p.Thr835fs)
NM_004990.4(MARS1):c.2507C>G (p.Thr836Arg) rs1159370358
NM_004990.4(MARS1):c.2514G>C (p.Lys838Asn)
NM_004990.4(MARS1):c.2527C>A (p.Gln843Lys)
NM_004990.4(MARS1):c.2539_2542del (p.Asp847fs)
NM_004990.4(MARS1):c.2540A>C (p.Asp847Ala)
NM_004990.4(MARS1):c.2549C>T (p.Thr850Ile)
NM_004990.4(MARS1):c.2553A>G (p.Lys851=)
NM_004990.4(MARS1):c.2556+1G>A rs1877828714
NM_004990.4(MARS1):c.2556+3A>G
NM_004990.4(MARS1):c.2556+3A>T
NM_004990.4(MARS1):c.2556+4T>A
NM_004990.4(MARS1):c.2556+5G>A
NM_004990.4(MARS1):c.2563A>G (p.Ile855Val)
NM_004990.4(MARS1):c.2590G>A (p.Ala864Thr)
NM_004990.4(MARS1):c.2597A>G (p.Lys866Arg)
NM_004990.4(MARS1):c.2607del (p.Ala870fs)
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
NM_004990.4(MARS1):c.2631G>C (p.Leu877Phe)
NM_004990.4(MARS1):c.265G>A (p.Ala89Thr)
NM_004990.4(MARS1):c.2662G>A (p.Gly888Arg)
NM_004990.4(MARS1):c.2673_2674insTTC (p.Pro891_Glu892insPhe)
NM_004990.4(MARS1):c.2677G>A (p.Ala893Thr)
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val) rs1027516483
NM_004990.4(MARS1):c.2685A>T (p.Lys895Asn) rs1181373475
NM_004990.4(MARS1):c.2685dup (p.Gly896fs)
NM_004990.4(MARS1):c.2686G>C (p.Gly896Arg)
NM_004990.4(MARS1):c.2691G>C (p.Lys897Asn)
NM_004990.4(MARS1):c.2701_*3del (p.Ter901del) rs1409128703
NM_004990.4(MARS1):c.279+5G>A
NM_004990.4(MARS1):c.280C>T (p.Pro94Ser)
NM_004990.4(MARS1):c.294_295delinsCC (p.Ala99Pro)
NM_004990.4(MARS1):c.295G>T (p.Ala99Ser)
NM_004990.4(MARS1):c.311T>A (p.Val104Glu)
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
NM_004990.4(MARS1):c.337G>T (p.Val113Phe)
NM_004990.4(MARS1):c.343G>A (p.Gly115Ser) rs2139997870
NM_004990.4(MARS1):c.349G>A (p.Val117Met)
NM_004990.4(MARS1):c.352C>G (p.Arg118Gly)
NM_004990.4(MARS1):c.356G>A (p.Arg119Lys)
NM_004990.4(MARS1):c.371T>C (p.Ile124Thr)
NM_004990.4(MARS1):c.379A>G (p.Ser127Gly) rs1046282755
NM_004990.4(MARS1):c.389G>C (p.Arg130Pro)
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) rs1875583589
NM_004990.4(MARS1):c.397T>G (p.Cys133Gly)
NM_004990.4(MARS1):c.398G>A (p.Cys133Tyr) rs2139998020
NM_004990.4(MARS1):c.414+1G>T
NM_004990.4(MARS1):c.415-5C>G rs747351446
NM_004990.4(MARS1):c.421_422del (p.Glu141fs)
NM_004990.4(MARS1):c.425C>G (p.Ser142Cys)
NM_004990.4(MARS1):c.427C>G (p.Leu143Val)
NM_004990.4(MARS1):c.433G>A (p.Asp145Asn)
NM_004990.4(MARS1):c.437T>C (p.Ile146Thr)
NM_004990.4(MARS1):c.460C>A (p.Pro154Thr)
NM_004990.4(MARS1):c.478G>T (p.Ala160Ser)
NM_004990.4(MARS1):c.491-3C>T
NM_004990.4(MARS1):c.496C>G (p.Leu166Val)
NM_004990.4(MARS1):c.509A>G (p.His170Arg)
NM_004990.4(MARS1):c.511A>G (p.Ser171Gly) rs142331178
NM_004990.4(MARS1):c.520C>T (p.Gln174Ter)
NM_004990.4(MARS1):c.533C>T (p.Thr178Ile)
NM_004990.4(MARS1):c.542C>T (p.Pro181Leu)
NM_004990.4(MARS1):c.564T>G (p.Thr188=)
NM_004990.4(MARS1):c.577C>G (p.Gln193Glu)
NM_004990.4(MARS1):c.580G>T (p.Gly194Cys)
NM_004990.4(MARS1):c.58G>A (p.Gly20Arg)
NM_004990.4(MARS1):c.590C>T (p.Ala197Val)
NM_004990.4(MARS1):c.596G>A (p.Arg199Gln)
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
NM_004990.4(MARS1):c.604C>G (p.Leu202Val)
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.636G>C (p.Glu212Asp)
NM_004990.4(MARS1):c.646G>A (p.Val216Ile)
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp) rs1875839232
NM_004990.4(MARS1):c.659del (p.Pro220fs) rs777370844
NM_004990.4(MARS1):c.664G>A (p.Glu222Lys)
NM_004990.4(MARS1):c.667G>A (p.Glu223Lys) rs1249955185
NM_004990.4(MARS1):c.673C>A (p.Leu225Met)
NM_004990.4(MARS1):c.673_696dup (p.Glu232_Ile233insLeuAlaThrLeuSerGluGluGlu)
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly) rs2139993470
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
NM_004990.4(MARS1):c.688GAG[2] (p.Glu232del)
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln) rs1247809884
NM_004990.4(MARS1):c.692A>T (p.Glu231Val) rs755863042
NM_004990.4(MARS1):c.703A>G (p.Met235Val)
NM_004990.4(MARS1):c.709G>A (p.Val237Ile)
NM_004990.4(MARS1):c.712dup (p.Thr238fs)
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
NM_004990.4(MARS1):c.743C>T (p.Pro248Leu)
NM_004990.4(MARS1):c.764A>G (p.Asn255Ser)
NM_004990.4(MARS1):c.766C>T (p.Pro256Ser)
NM_004990.4(MARS1):c.770+18_770+19del
NM_004990.4(MARS1):c.789A>C (p.Glu263Asp)
NM_004990.4(MARS1):c.804C>G (p.Ile268Met) rs1421551773
NM_004990.4(MARS1):c.842T>G (p.Leu281Arg)
NM_004990.4(MARS1):c.846G>T (p.Gly282=)
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
NM_004990.4(MARS1):c.874G>A (p.Asp292Asn)
NM_004990.4(MARS1):c.874G>C (p.Asp292His)
NM_004990.4(MARS1):c.875A>G (p.Asp292Gly)
NM_004990.4(MARS1):c.886A>T (p.Arg296Trp)
NM_004990.4(MARS1):c.887+4G>T
NM_004990.4(MARS1):c.887+5A>G rs1565643835
NM_004990.4(MARS1):c.890A>C (p.Tyr297Ser) rs1876748489
NM_004990.4(MARS1):c.893C>G (p.Ser298Cys)
NM_004990.4(MARS1):c.895C>T (p.Arg299Cys)
NM_004990.4(MARS1):c.896G>A (p.Arg299His)
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)
NM_004990.4(MARS1):c.902G>A (p.Arg301His)
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.907T>C (p.Trp303Arg)
NM_004990.4(MARS1):c.941A>G (p.Tyr314Cys)
NM_004990.4(MARS1):c.965C>T (p.Ala322Val)
NM_004990.4(MARS1):c.971A>G (p.Glu324Gly)
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu) rs145260922
NM_004990.4(MARS1):c.989A>C (p.Gln330Pro) rs747834192
NM_004990.4(MARS1):c.995T>C (p.Ile332Thr)
NM_004990.4(MARS1):c.996C>G (p.Ile332Met)
NM_032957.4(RTEL1):c.1346T>C rs863224915
NM_172245.4(CSF2RA):c.1006C>G (p.Leu336Val) rs143480669
NM_172245.4(CSF2RA):c.1006C>T (p.Leu336Phe) rs143480669
NM_172245.4(CSF2RA):c.1015G>A (p.Gly339Ser) rs2148651005
NM_172245.4(CSF2RA):c.1027G>T (p.Gly343Cys) rs1186460962
NM_172245.4(CSF2RA):c.1037T>A (p.Phe346Tyr) rs758219814
NM_172245.4(CSF2RA):c.104G>A (p.Ser35Asn) rs2148311272
NM_172245.4(CSF2RA):c.1064T>C (p.Leu355Pro) rs2083462723
NM_172245.4(CSF2RA):c.1070C>A (p.Pro357Gln)
NM_172245.4(CSF2RA):c.1123G>C (p.Glu375Gln) rs200259335
NM_172245.4(CSF2RA):c.1129A>C (p.Ile377Leu) rs2084015817
NM_172245.4(CSF2RA):c.1168C>T (p.Arg390Cys) rs150603886
NM_172245.4(CSF2RA):c.1169G>A (p.Arg390His)
NM_172245.4(CSF2RA):c.1172A>C (p.Glu391Ala)
NM_172245.4(CSF2RA):c.137A>G (p.Asn46Ser) rs2090584002
NM_172245.4(CSF2RA):c.14T>C (p.Val5Ala) rs771435926
NM_172245.4(CSF2RA):c.161A>G (p.Asn54Ser)
NM_172245.4(CSF2RA):c.17C>A (p.Thr6Lys)
NM_172245.4(CSF2RA):c.20G>A (p.Ser7Asn) rs1402617835
NM_172245.4(CSF2RA):c.21C>A (p.Ser7Arg) rs2090190168
NM_172245.4(CSF2RA):c.220-3del
NM_172245.4(CSF2RA):c.239C>T (p.Ser80Leu) rs201854740
NM_172245.4(CSF2RA):c.242G>A (p.Cys81Tyr) rs2091031726
NM_172245.4(CSF2RA):c.266A>G (p.His89Arg)
NM_172245.4(CSF2RA):c.337A>T (p.Asn113Tyr) rs1603428019
NM_172245.4(CSF2RA):c.343+4A>G
NM_172245.4(CSF2RA):c.347G>A (p.Arg116Lys) rs1226419238
NM_172245.4(CSF2RA):c.352G>T (p.Gly118Cys) rs756668034
NM_172245.4(CSF2RA):c.356C>G (p.Thr119Ser)
NM_172245.4(CSF2RA):c.358G>A (p.Ala120Thr) rs148928173
NM_172245.4(CSF2RA):c.35A>G (p.Glu12Gly)
NM_172245.4(CSF2RA):c.370T>G (p.Phe124Val)
NM_172245.4(CSF2RA):c.402G>T (p.Met134Ile)
NM_172245.4(CSF2RA):c.414G>T (p.Trp138Cys)
NM_172245.4(CSF2RA):c.416C>G (p.Ala139Gly) rs777638014
NM_172245.4(CSF2RA):c.425C>A (p.Pro142Gln) rs151058706
NM_172245.4(CSF2RA):c.437G>A (p.Arg146His)
NM_172245.4(CSF2RA):c.43C>T (p.His15Tyr) rs760312267
NM_172245.4(CSF2RA):c.447G>C (p.Gln149His)
NM_172245.4(CSF2RA):c.461T>C (p.Ile154Thr) rs1230316461
NM_172245.4(CSF2RA):c.477_479del (p.Arg161del) rs1325137344
NM_172245.4(CSF2RA):c.496C>T (p.Pro166Ser) rs1603429177
NM_172245.4(CSF2RA):c.497C>T (p.Pro166Leu)
NM_172245.4(CSF2RA):c.515C>T (p.Ser172Leu)
NM_172245.4(CSF2RA):c.530G>A (p.Gly177Glu) rs142203271
NM_172245.4(CSF2RA):c.530G>C (p.Gly177Ala) rs142203271
NM_172245.4(CSF2RA):c.536A>G (p.His179Arg) rs2148416836
NM_172245.4(CSF2RA):c.560C>T (p.Thr187Met)
NM_172245.4(CSF2RA):c.566G>A (p.Arg189His) rs147180621
NM_172245.4(CSF2RA):c.580G>A (p.Val194Ile) rs2091295557
NM_172245.4(CSF2RA):c.590C>G (p.Thr197Ser)
NM_172245.4(CSF2RA):c.592A>G (p.Ser198Gly) rs2148417904
NM_172245.4(CSF2RA):c.617T>C (p.Phe206Ser) rs1437736490
NM_172245.4(CSF2RA):c.650G>A (p.Arg217Gln)
NM_172245.4(CSF2RA):c.668A>G (p.Asn223Ser) rs768648388
NM_172245.4(CSF2RA):c.677T>C (p.Val226Ala)
NM_172245.4(CSF2RA):c.679C>T (p.Arg227Cys) rs772324282
NM_172245.4(CSF2RA):c.682T>C (p.Cys228Arg) rs2091712486
NM_172245.4(CSF2RA):c.689C>G (p.Thr230Arg)
NM_172245.4(CSF2RA):c.69G>T (p.Glu23Asp) rs1603424196
NM_172245.4(CSF2RA):c.703G>T (p.Val235Leu) rs754889776
NM_172245.4(CSF2RA):c.707G>A (p.Arg236Gln) rs1418501378
NM_172245.4(CSF2RA):c.74C>T (p.Ser25Leu)
NM_172245.4(CSF2RA):c.766G>A (p.Asp256Asn) rs761350119
NM_172245.4(CSF2RA):c.77-3C>A
NM_172245.4(CSF2RA):c.782A>G (p.Asn261Ser)
NM_172245.4(CSF2RA):c.802A>G (p.Asn268Asp)
NM_172245.4(CSF2RA):c.834A>T (p.Glu278Asp)
NM_172245.4(CSF2RA):c.836A>C (p.Asn279Thr) rs2092297530
NM_172245.4(CSF2RA):c.83G>A (p.Arg28Gln) rs764272709
NM_172245.4(CSF2RA):c.83G>C (p.Arg28Pro) rs764272709
NM_172245.4(CSF2RA):c.868G>A (p.Ala290Thr)
NM_172245.4(CSF2RA):c.893C>T (p.Ala298Val)
NM_172245.4(CSF2RA):c.901G>T (p.Val301Phe) rs767644484
NM_172245.4(CSF2RA):c.912G>C (p.Leu304Phe) rs764261104
NM_172245.4(CSF2RA):c.933A>C (p.Glu311Asp)
NM_172245.4(CSF2RA):c.934G>A (p.Ala312Thr)
NM_172245.4(CSF2RA):c.97G>C (p.Ala33Pro)
NM_198253.3(TERT):c.-57A>G rs878855297
NM_198253.3(TERT):c.-57A>T
NM_198253.3(TERT):c.-57del rs1751310344
NM_198253.3(TERT):c.1001C>T (p.Ser334Phe)
NM_198253.3(TERT):c.1003T>C (p.Ser335Pro) rs1478631964
NM_198253.3(TERT):c.1007G>A (p.Gly336Asp) rs1751172254
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) rs2126686381
NM_198253.3(TERT):c.1009G>T (p.Asp337Tyr) rs2126686381
NM_198253.3(TERT):c.1010A>G (p.Asp337Gly)
NM_198253.3(TERT):c.1011C>G (p.Asp337Glu)
NM_198253.3(TERT):c.1012A>C (p.Lys338Gln) rs1032442071
NM_198253.3(TERT):c.1018C>A (p.Gln340Lys) rs1561213862
NM_198253.3(TERT):c.1024C>T (p.Arg342Trp)
NM_198253.3(TERT):c.1036C>G (p.Leu346Val) rs1751169610
NM_198253.3(TERT):c.1037T>C (p.Leu346Pro) rs2126686240
NM_198253.3(TERT):c.1044C>G (p.Ser348Arg) rs1751169034
NM_198253.3(TERT):c.1046C>G (p.Ser349Cys) rs904848231
NM_198253.3(TERT):c.1046C>T (p.Ser349Phe) rs904848231
NM_198253.3(TERT):c.1048C>A (p.Leu350Met) rs2126686184
NM_198253.3(TERT):c.104G>A (p.Gly35Asp) rs2126692114
NM_198253.3(TERT):c.104G>T (p.Gly35Val)
NM_198253.3(TERT):c.1051A>G (p.Arg351Gly) rs1579597068
NM_198253.3(TERT):c.1067G>C (p.Gly356Ala) rs1307031795
NM_198253.3(TERT):c.1070C>G (p.Ala357Gly) rs1751166833
NM_198253.3(TERT):c.1072C>G (p.Arg358Gly)
NM_198253.3(TERT):c.1072C>T (p.Arg358Trp)
NM_198253.3(TERT):c.1073G>C (p.Arg358Pro)
NM_198253.3(TERT):c.1073G>T (p.Arg358Leu)
NM_198253.3(TERT):c.1081G>C (p.Val361Leu) rs1751165031
NM_198253.3(TERT):c.109C>G (p.Arg37Gly) rs2126692072
NM_198253.3(TERT):c.10G>C (p.Ala4Pro) rs1579599369
NM_198253.3(TERT):c.1103C>A (p.Ser368Tyr)
NM_198253.3(TERT):c.1103C>T (p.Ser368Phe) rs1751163294
NM_198253.3(TERT):c.1105A>G (p.Arg369Gly) rs1561213793
NM_198253.3(TERT):c.1109C>G (p.Pro370Arg)
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.110G>C (p.Arg37Pro)
NM_198253.3(TERT):c.110G>T (p.Arg37Leu)
NM_198253.3(TERT):c.1117C>T (p.Pro373Ser) rs1751162009
NM_198253.3(TERT):c.1118C>G (p.Pro373Arg)
NM_198253.3(TERT):c.1120G>A (p.Gly374Arg)
NM_198253.3(TERT):c.1121G>A (p.Gly374Glu) rs778585289
NM_198253.3(TERT):c.1123A>G (p.Thr375Ala) rs1751161082
NM_198253.3(TERT):c.1124C>T (p.Thr375Ile)
NM_198253.3(TERT):c.1127C>T (p.Pro376Leu)
NM_198253.3(TERT):c.1129C>T (p.Arg377Cys)
NM_198253.3(TERT):c.112C>A (p.Leu38Met) rs1004308241
NM_198253.3(TERT):c.1132A>G (p.Arg378Gly)
NM_198253.3(TERT):c.1133G>A (p.Arg378Lys)
NM_198253.3(TERT):c.1134G>T (p.Arg378Ser) rs1751159479
NM_198253.3(TERT):c.1138C>A (p.Pro380Thr) rs144756946
NM_198253.3(TERT):c.1142G>A (p.Arg381His) rs777343359
NM_198253.3(TERT):c.1144C>G (p.Leu382Val) rs994804257
NM_198253.3(TERT):c.1151A>G (p.Gln384Arg) rs1167344136
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) rs1167344136
NM_198253.3(TERT):c.1152G>C (p.Gln384His) rs1751157044
NM_198253.3(TERT):c.1153C>T (p.Arg385Cys) rs1751156834
NM_198253.3(TERT):c.1156T>A (p.Tyr386Asn)
NM_198253.3(TERT):c.1156T>C (p.Tyr386His)
NM_198253.3(TERT):c.1157A>G (p.Tyr386Cys)
NM_198253.3(TERT):c.115G>T (p.Val39Leu) rs1751294892
NM_198253.3(TERT):c.1168C>T (p.Arg390Trp) rs1751155596
NM_198253.3(TERT):c.1169G>A (p.Arg390Gln) rs1751155418
NM_198253.3(TERT):c.1172C>T (p.Pro391Leu)
NM_198253.3(TERT):c.1192G>A (p.Gly398Arg)
NM_198253.3(TERT):c.1193G>A (p.Gly398Glu) rs1554042874
NM_198253.3(TERT):c.1196A>G (p.Asn399Ser) rs1561213697
NM_198253.3(TERT):c.119A>T (p.Gln40Leu) rs1751294652
NM_198253.3(TERT):c.1201G>T (p.Ala401Ser) rs370887827
NM_198253.3(TERT):c.1202C>T (p.Ala401Val) rs539667998
NM_198253.3(TERT):c.1205A>G (p.Gln402Arg)
NM_198253.3(TERT):c.120G>C (p.Gln40His) rs1751294429
NM_198253.3(TERT):c.1210C>G (p.Pro404Ala) rs1561213668
NM_198253.3(TERT):c.1210C>T (p.Pro404Ser) rs1561213668
NM_198253.3(TERT):c.1211C>G (p.Pro404Arg) rs1060503008
NM_198253.3(TERT):c.1211C>T (p.Pro404Leu)
NM_198253.3(TERT):c.1219G>A (p.Val407Met) rs1751148544
NM_198253.3(TERT):c.1219G>C (p.Val407Leu) rs1751148544
NM_198253.3(TERT):c.121C>T (p.Arg41Cys)
NM_198253.3(TERT):c.1231A>G (p.Thr411Ala)
NM_198253.3(TERT):c.1235A>G (p.His412Arg)
NM_198253.3(TERT):c.1238G>A (p.Cys413Tyr) rs1214280692
NM_198253.3(TERT):c.1240C>T (p.Pro414Ser) rs2126685248
NM_198253.3(TERT):c.1244T>G (p.Leu415Arg) rs1561213606
NM_198253.3(TERT):c.1249G>C (p.Ala417Pro) rs1238733587
NM_198253.3(TERT):c.124G>A (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.1250C>G (p.Ala417Gly) rs1440396485
NM_198253.3(TERT):c.1250C>T (p.Ala417Val) rs1440396485
NM_198253.3(TERT):c.1255G>T (p.Val419Phe) rs1189188708
NM_198253.3(TERT):c.1258A>G (p.Thr420Ala) rs2126685146
NM_198253.3(TERT):c.1258A>T (p.Thr420Ser) rs2126685146
NM_198253.3(TERT):c.1261C>T (p.Pro421Ser) rs773246847
NM_198253.3(TERT):c.1262C>T (p.Pro421Leu)
NM_198253.3(TERT):c.1265C>G (p.Ala422Gly) rs2126685086
NM_198253.3(TERT):c.1267G>A (p.Ala423Thr)
NM_198253.3(TERT):c.1277G>C (p.Cys426Ser)
NM_198253.3(TERT):c.1278T>G (p.Cys426Trp) rs1326706015
NM_198253.3(TERT):c.1279G>A (p.Ala427Thr)
NM_198253.3(TERT):c.127G>A (p.Asp43Asn) rs1579599236
NM_198253.3(TERT):c.1280C>T (p.Ala427Val) rs2126685035
NM_198253.3(TERT):c.1282C>G (p.Arg428Gly)
NM_198253.3(TERT):c.1285G>A (p.Glu429Lys) rs1561213553
NM_198253.3(TERT):c.1290G>T (p.Lys430Asn)
NM_198253.3(TERT):c.1291C>A (p.Pro431Thr) rs1751140045
NM_198253.3(TERT):c.1292C>A (p.Pro431His) rs1164823749
NM_198253.3(TERT):c.1303G>T (p.Val435Leu)
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1309G>T (p.Ala437Ser) rs2126684878
NM_198253.3(TERT):c.1310C>T (p.Ala437Val) rs1554042841
NM_198253.3(TERT):c.1313C>A (p.Pro438His) rs2126684855
NM_198253.3(TERT):c.1315G>A (p.Glu439Lys) rs747463378
NM_198253.3(TERT):c.1315G>C (p.Glu439Gln) rs747463378
NM_198253.3(TERT):c.1318G>A (p.Glu440Lys) rs2126684803
NM_198253.3(TERT):c.1319A>G (p.Glu440Gly)
NM_198253.3(TERT):c.1319A>T (p.Glu440Val)
NM_198253.3(TERT):c.131C>T (p.Pro44Leu) rs2126691833
NM_198253.3(TERT):c.1321G>A (p.Glu441Lys)
NM_198253.3(TERT):c.1327A>C (p.Thr443Pro) rs1030586939
NM_198253.3(TERT):c.1328C>A (p.Thr443Lys) rs772257175
NM_198253.3(TERT):c.1328C>G (p.Thr443Arg) rs772257175
NM_198253.3(TERT):c.1332C>A (p.Asp444Glu) rs748983668
NM_198253.3(TERT):c.1334C>G (p.Pro445Arg) rs956854933
NM_198253.3(TERT):c.1336C>G (p.Arg446Gly) rs567650961
NM_198253.3(TERT):c.1336C>T (p.Arg446Cys) rs567650961
NM_198253.3(TERT):c.1339C>G (p.Arg447Gly)
NM_198253.3(TERT):c.1340G>A (p.Arg447His) rs1751132830
NM_198253.3(TERT):c.1340G>T (p.Arg447Leu)
NM_198253.3(TERT):c.134C>T (p.Ala45Val)
NM_198253.3(TERT):c.1350G>T (p.Gln450His)
NM_198253.3(TERT):c.1357C>T (p.Arg453Cys)
NM_198253.3(TERT):c.1361A>G (p.Gln454Arg) rs2126684552
NM_198253.3(TERT):c.1361A>T (p.Gln454Leu) rs2126684552
NM_198253.3(TERT):c.1362G>C (p.Gln454His)
NM_198253.3(TERT):c.1364A>T (p.His455Leu) rs781329984
NM_198253.3(TERT):c.1369A>G (p.Ser457Gly)
NM_198253.3(TERT):c.136G>A (p.Ala46Thr) rs1579599228
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.1372C>A (p.Pro458Thr) rs1579596485
NM_198253.3(TERT):c.1377G>T (p.Trp459Cys) rs2126684488
NM_198253.3(TERT):c.1387G>A (p.Gly463Ser) rs1751127777
NM_198253.3(TERT):c.1388G>C (p.Gly463Ala) rs2126684423
NM_198253.3(TERT):c.1390T>C (p.Phe464Leu)
NM_198253.3(TERT):c.1393G>T (p.Val465Leu)
NM_198253.3(TERT):c.13C>A (p.Pro5Thr)
NM_198253.3(TERT):c.1405C>A (p.Leu469Met)
NM_198253.3(TERT):c.1408C>T (p.Arg470Cys) rs1482602039
NM_198253.3(TERT):c.1409G>A (p.Arg470His)
NM_198253.3(TERT):c.1411C>T (p.Arg471Trp) rs750721558
NM_198253.3(TERT):c.1417G>C (p.Val473Leu) rs1554042817
NM_198253.3(TERT):c.1417G>T (p.Val473Leu)
NM_198253.3(TERT):c.1420C>T (p.Pro474Ser) rs1302718699
NM_198253.3(TERT):c.1421C>T (p.Pro474Leu) rs1751124049
NM_198253.3(TERT):c.1424C>T (p.Pro475Leu)
NM_198253.3(TERT):c.1426G>A (p.Gly476Ser)
NM_198253.3(TERT):c.142C>T (p.Arg48Cys) rs1554043151
NM_198253.3(TERT):c.1436G>A (p.Gly479Asp) rs1579596341
NM_198253.3(TERT):c.1438T>C (p.Ser480Pro) rs917650159
NM_198253.3(TERT):c.1439C>G (p.Ser480Cys)
NM_198253.3(TERT):c.143G>A (p.Arg48His) rs1751291943
NM_198253.3(TERT):c.1447A>G (p.Asn483Asp)
NM_198253.3(TERT):c.1449C>A (p.Asn483Lys)
NM_198253.3(TERT):c.1450G>A (p.Glu484Lys) rs1561213355
NM_198253.3(TERT):c.1450G>C (p.Glu484Gln) rs1561213355
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) rs199422293
NM_198253.3(TERT):c.1457G>A (p.Arg486His) rs1179486322
NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)
NM_198253.3(TERT):c.1478A>G (p.Lys493Arg)
NM_198253.3(TERT):c.1483A>C (p.Ile495Leu) rs1561213308
NM_198253.3(TERT):c.1486T>A (p.Ser496Thr) rs1751117262
NM_198253.3(TERT):c.1492G>A (p.Gly498Arg) rs2126683901
NM_198253.3(TERT):c.1499A>T (p.His500Leu) rs2126683887
NM_198253.3(TERT):c.1505A>G (p.Lys502Arg) rs896201074
NM_198253.3(TERT):c.1506G>C (p.Lys502Asn)
NM_198253.3(TERT):c.1511C>G (p.Ser504Trp) rs1561213283
NM_198253.3(TERT):c.1514T>G (p.Leu505Arg)
NM_198253.3(TERT):c.1517A>G (p.Gln506Arg)
NM_198253.3(TERT):c.1526C>T (p.Thr509Met) rs1554042799
NM_198253.3(TERT):c.1537A>T (p.Ser513Cys)
NM_198253.3(TERT):c.1538G>A (p.Ser513Asn)
NM_198253.3(TERT):c.1541T>G (p.Val514Gly) rs1751112458
NM_198253.3(TERT):c.1543C>T (p.Arg515Trp)
NM_198253.3(TERT):c.1544G>A (p.Arg515Gln)
NM_198253.3(TERT):c.1546G>A (p.Asp516Asn) rs1156765768
NM_198253.3(TERT):c.1546G>C (p.Asp516His) rs1156765768
NM_198253.3(TERT):c.154G>A (p.Ala52Thr) rs1751290167
NM_198253.3(TERT):c.1552G>A (p.Ala518Thr)
NM_198253.3(TERT):c.1553C>T (p.Ala518Val) rs1474097655
NM_198253.3(TERT):c.1557G>C (p.Trp519Cys)
NM_198253.3(TERT):c.1558C>G (p.Leu520Val) rs1751110507
NM_198253.3(TERT):c.1559T>C (p.Leu520Pro) rs1751110348
NM_198253.3(TERT):c.155C>T (p.Ala52Val) rs1751289980
NM_198253.3(TERT):c.1561C>G (p.Arg521Gly) rs1448835821
NM_198253.3(TERT):c.1562G>A (p.Arg521His)
NM_198253.3(TERT):c.1562G>T (p.Arg521Leu) rs1060503002
NM_198253.3(TERT):c.1565G>A (p.Arg522Lys) rs1751108994
NM_198253.3(TERT):c.1568G>A (p.Ser523Asn) rs1751108602
NM_198253.3(TERT):c.1569C>G (p.Ser523Arg) rs1060503014
NM_198253.3(TERT):c.1569_1570delinsAA (p.Ser523_Pro524delinsArgThr)
NM_198253.3(TERT):c.1570C>G (p.Pro524Ala) rs898648592
NM_198253.3(TERT):c.1570C>T (p.Pro524Ser) rs898648592
NM_198253.3(TERT):c.1571C>A (p.Pro524Gln)
NM_198253.3(TERT):c.1573+3G>A rs1751107935
NM_198253.3(TERT):c.1573+6G>A rs1561213199
NM_198253.3(TERT):c.1574-6T>C
NM_198253.3(TERT):c.1574-8C>A
NM_198253.3(TERT):c.1574G>A (p.Gly525Glu) rs1477152090
NM_198253.3(TERT):c.1574G>T (p.Gly525Val) rs1477152090
NM_198253.3(TERT):c.1576G>A (p.Val526Ile)
NM_198253.3(TERT):c.1580G>A (p.Gly527Asp)
NM_198253.3(TERT):c.1583G>A (p.Cys528Tyr) rs1750105041
NM_198253.3(TERT):c.1587T>G (p.Val529=)
NM_198253.3(TERT):c.1589C>A (p.Pro530Gln) rs369539932
NM_198253.3(TERT):c.1594G>A (p.Ala532Thr) rs776459827
NM_198253.3(TERT):c.1594G>T (p.Ala532Ser) rs776459827
NM_198253.3(TERT):c.1602C>A (p.His534Gln) rs1750103319
NM_198253.3(TERT):c.1603C>T (p.Arg535Cys) rs1750103128
NM_198253.3(TERT):c.1604G>C (p.Arg535Pro)
NM_198253.3(TERT):c.1606C>A (p.Leu536Met) rs1049929004
NM_198253.3(TERT):c.1607T>A (p.Leu536Gln) rs1750102460
NM_198253.3(TERT):c.160T>A (p.Cys54Ser)
NM_198253.3(TERT):c.1610G>A (p.Arg537His) rs1272053273
NM_198253.3(TERT):c.1615G>C (p.Glu539Gln) rs1203927893
NM_198253.3(TERT):c.1617G>C (p.Glu539Asp)
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr) rs2126691594
NM_198253.3(TERT):c.1623_1624delinsTT (p.Ala542Ser) rs2126649852
NM_198253.3(TERT):c.1625C>T (p.Ala542Val) rs1579580180
NM_198253.3(TERT):c.1628A>G (p.Lys543Arg)
NM_198253.3(TERT):c.1637A>C (p.His546Pro)
NM_198253.3(TERT):c.1637A>G (p.His546Arg) rs2126649799
NM_198253.3(TERT):c.1639T>G (p.Trp547Gly) rs1223467172
NM_198253.3(TERT):c.1640G>C (p.Trp547Ser)
NM_198253.3(TERT):c.1645A>T (p.Met549Leu)
NM_198253.3(TERT):c.1647G>A (p.Met549Ile) rs1554041316
NM_198253.3(TERT):c.1648A>C (p.Ser550Arg) rs745806589
NM_198253.3(TERT):c.1649G>A (p.Ser550Asn)
NM_198253.3(TERT):c.1650T>A (p.Ser550Arg)
NM_198253.3(TERT):c.1650T>G (p.Ser550Arg) rs778896667
NM_198253.3(TERT):c.1651G>A (p.Val551Met) rs1554041313
NM_198253.3(TERT):c.1663G>A (p.Glu555Lys)
NM_198253.3(TERT):c.1663G>C (p.Glu555Gln) rs1413965241
NM_198253.3(TERT):c.1666C>G (p.Leu556Val)
NM_198253.3(TERT):c.1669C>G (p.Leu557Val)
NM_198253.3(TERT):c.1672A>G (p.Arg558Gly)
NM_198253.3(TERT):c.1672A>T (p.Arg558Trp)
NM_198253.3(TERT):c.1675T>G (p.Ser559Ala) rs2126649631
NM_198253.3(TERT):c.1676C>G (p.Ser559Cys) rs1579580077
NM_198253.3(TERT):c.1680C>A (p.Phe560Leu) rs1554041306
NM_198253.3(TERT):c.1688T>C (p.Val563Ala)
NM_198253.3(TERT):c.1691C>T (p.Thr564Met) rs1251489309
NM_198253.3(TERT):c.16C>G (p.Arg6Gly) rs1751302097
NM_198253.3(TERT):c.1715G>A (p.Arg572Lys)
NM_198253.3(TERT):c.1716G>T (p.Arg572Ser) rs2126649488
NM_198253.3(TERT):c.1729C>T (p.Arg577Trp) rs1207489144
NM_198253.3(TERT):c.172G>C (p.Val58Leu) rs1751288465
NM_198253.3(TERT):c.1734G>C (p.Lys578Asn)
NM_198253.3(TERT):c.1743G>T (p.Trp581Cys) rs1750086002
NM_198253.3(TERT):c.1744A>T (p.Ser582Cys)
NM_198253.3(TERT):c.1759A>G (p.Ile587Val) rs752068571
NM_198253.3(TERT):c.1761T>G (p.Ile587Met) rs1750084189
NM_198253.3(TERT):c.1769+4C>A
NM_198253.3(TERT):c.1769+5T>C rs1750082976
NM_198253.3(TERT):c.1769+6G>A
NM_198253.3(TERT):c.1770-3C>T
NM_198253.3(TERT):c.1770-5T>C
NM_198253.3(TERT):c.1775A>T (p.His592Leu) rs2126644777
NM_198253.3(TERT):c.1781A>G (p.Lys594Arg)
NM_198253.3(TERT):c.1786G>T (p.Val596Leu) rs1554041101
NM_198253.3(TERT):c.1787T>G (p.Val596Gly) rs1463357127
NM_198253.3(TERT):c.1795C>T (p.Arg599Trp)
NM_198253.3(TERT):c.1796G>C (p.Arg599Pro)
NM_198253.3(TERT):c.1804T>C (p.Ser602Pro) rs2126644665
NM_198253.3(TERT):c.180G>C (p.Trp60Cys) rs1554043139
NM_198253.3(TERT):c.1810G>A (p.Ala604Thr) rs2126644638
NM_198253.3(TERT):c.1821G>C (p.Arg607Ser)
NM_198253.3(TERT):c.1822C>A (p.Gln608Lys)
NM_198253.3(TERT):c.1823A>T (p.Gln608Leu)
NM_198253.3(TERT):c.1828C>G (p.Arg610Gly) rs747940807
NM_198253.3(TERT):c.1828C>T (p.Arg610Trp) rs747940807
NM_198253.3(TERT):c.1829G>T (p.Arg610Leu) rs776763536
NM_198253.3(TERT):c.182A>G (p.Asp61Gly)
NM_198253.3(TERT):c.1831G>A (p.Glu611Lys) rs1554041095
NM_198253.3(TERT):c.1832A>G (p.Glu611Gly)
NM_198253.3(TERT):c.1834G>A (p.Ala612Thr) rs1749932051
NM_198253.3(TERT):c.1840C>G (p.Pro614Ala)
NM_198253.3(TERT):c.1840C>T (p.Pro614Ser) rs2126644525
NM_198253.3(TERT):c.1841C>A (p.Pro614His) rs1749931485
NM_198253.3(TERT):c.1844C>T (p.Ala615Val) rs1554041088
NM_198253.3(TERT):c.1846C>A (p.Leu616Met)
NM_198253.3(TERT):c.184G>T (p.Ala62Ser) rs2126691502
NM_198253.3(TERT):c.1852A>G (p.Thr618Ala) rs995777798
NM_198253.3(TERT):c.1853C>G (p.Thr618Arg)
NM_198253.3(TERT):c.1855T>A (p.Ser619Thr) rs1749929033
NM_198253.3(TERT):c.1861C>A (p.Leu621Ile)
NM_198253.3(TERT):c.1864C>T (p.Arg622Cys) rs1579577192
NM_198253.3(TERT):c.1865G>A (p.Arg622His)
NM_198253.3(TERT):c.1870A>G (p.Ile624Val) rs2126644408
NM_198253.3(TERT):c.1873C>A (p.Pro625Thr) rs1749928062
NM_198253.3(TERT):c.1878G>C (p.Lys626Asn)
NM_198253.3(TERT):c.1879C>G (p.Pro627Ala) rs2126644373
NM_198253.3(TERT):c.1882G>A (p.Asp628Asn) rs1354825725
NM_198253.3(TERT):c.1885G>A (p.Gly629Arg) rs2126644343
NM_198253.3(TERT):c.1895C>T (p.Pro632Leu) rs1749925286
NM_198253.3(TERT):c.1900G>T (p.Val634Leu) rs2126644267
NM_198253.3(TERT):c.1906A>G (p.Met636Val) rs1265160730
NM_198253.3(TERT):c.1909G>A (p.Asp637Asn) rs1561203868
NM_198253.3(TERT):c.1910A>C (p.Asp637Ala)
NM_198253.3(TERT):c.1913A>G (p.Tyr638Cys) rs1554041073
NM_198253.3(TERT):c.1918G>T (p.Val640Leu) rs765195721
NM_198253.3(TERT):c.191C>T (p.Pro64Leu) rs1751286367
NM_198253.3(TERT):c.1921G>C (p.Gly641Arg)
NM_198253.3(TERT):c.1927A>G (p.Arg643Gly) rs1749921453
NM_198253.3(TERT):c.1931C>A (p.Thr644Lys) rs201927653
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.1942G>A (p.Glu648Lys)
NM_198253.3(TERT):c.1943A>T (p.Glu648Val) rs1749919380
NM_198253.3(TERT):c.1947G>C (p.Lys649Asn)
NM_198253.3(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.3(TERT):c.1950+5C>A rs1749918549
NM_198253.3(TERT):c.1951-3C>T
NM_198253.3(TERT):c.1951G>C (p.Ala651Pro) rs1579576105
NM_198253.3(TERT):c.1957C>A (p.Arg653Ser)
NM_198253.3(TERT):c.1964C>A (p.Thr655Asn) rs2126642347
NM_198253.3(TERT):c.1964C>G (p.Thr655Ser)
NM_198253.3(TERT):c.1967C>T (p.Ser656Leu)
NM_198253.3(TERT):c.196C>T (p.Pro66Ser) rs2126691433
NM_198253.3(TERT):c.1972G>T (p.Val658Leu)
NM_198253.3(TERT):c.1978G>T (p.Ala660Ser)
NM_198253.3(TERT):c.1987A>C (p.Ser663Arg)
NM_198253.3(TERT):c.1987A>G (p.Ser663Gly) rs1749860434
NM_198253.3(TERT):c.1988G>A (p.Ser663Asn)
NM_198253.3(TERT):c.1990G>A (p.Val664Met) rs797046042
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.199G>C (p.Ala67Pro) rs2126691405
NM_198253.3(TERT):c.2006G>A (p.Arg669Gln) rs1749858434
NM_198253.3(TERT):c.2006G>C (p.Arg669Pro) rs1749858434
NM_198253.3(TERT):c.2009C>G (p.Ala670Gly)
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2014C>A (p.Arg672Ser)
NM_198253.3(TERT):c.2020G>T (p.Gly674Cys) rs773813809
NM_198253.3(TERT):c.2021G>T (p.Gly674Val)
NM_198253.3(TERT):c.2026C>G (p.Leu676Val)
NM_198253.3(TERT):c.202G>A (p.Ala68Thr)
NM_198253.3(TERT):c.202G>T (p.Ala68Ser) rs1038954321
NM_198253.3(TERT):c.2032G>A (p.Ala678Thr) rs1278095401
NM_198253.3(TERT):c.2032G>C (p.Ala678Pro)
NM_198253.3(TERT):c.203C>T (p.Ala68Val) rs1421869855
NM_198253.3(TERT):c.2044G>C (p.Gly682Arg)
NM_198253.3(TERT):c.2050G>A (p.Asp684Asn)
NM_198253.3(TERT):c.2051A>T (p.Asp684Val) rs776981958
NM_198253.3(TERT):c.2059C>T (p.His687Tyr)
NM_198253.3(TERT):c.2063G>A (p.Arg688Lys)
NM_198253.3(TERT):c.206C>T (p.Pro69Leu)
NM_198253.3(TERT):c.2070G>C (p.Trp690Cys)
NM_198253.3(TERT):c.2071C>A (p.Arg691Ser) rs866767063
NM_198253.3(TERT):c.2071C>T (p.Arg691Cys) rs866767063
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2074A>G (p.Thr692Ala)
NM_198253.3(TERT):c.2075C>A (p.Thr692Asn) rs1060503005
NM_198253.3(TERT):c.2075C>T (p.Thr692Ile) rs1060503005
NM_198253.3(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.3(TERT):c.2081T>C (p.Val694Ala) rs1026167666
NM_198253.3(TERT):c.2084T>A (p.Leu695Gln) rs1749846376
NM_198253.3(TERT):c.2086C>T (p.Arg696Cys)
NM_198253.3(TERT):c.2087G>A (p.Arg696His) rs756152343
NM_198253.3(TERT):c.2087G>C (p.Arg696Pro)
NM_198253.3(TERT):c.2090T>C (p.Val697Ala) rs1749845469
NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)
NM_198253.3(TERT):c.2093G>A (p.Arg698Gln)
NM_198253.3(TERT):c.2095G>A (p.Ala699Thr) rs2126641710
NM_198253.3(TERT):c.2095G>T (p.Ala699Ser)
NM_198253.3(TERT):c.20G>A (p.Cys7Tyr) rs1751301663
NM_198253.3(TERT):c.2102A>G (p.Asp701Gly)
NM_198253.3(TERT):c.2113G>A (p.Glu705Lys)
NM_198253.3(TERT):c.2130+3G>A rs2126641610
NM_198253.3(TERT):c.2130+4G>T rs762332544
NM_198253.3(TERT):c.2130+5G>A rs777102890
NM_198253.3(TERT):c.2130G>A (p.Lys710=)
NM_198253.3(TERT):c.2131G>T (p.Val711Leu)
NM_198253.3(TERT):c.2137G>A (p.Val713Met)
NM_198253.3(TERT):c.2141C>A (p.Thr714Lys)
NM_198253.3(TERT):c.214C>T (p.Arg72Cys) rs943289163
NM_198253.3(TERT):c.2152G>A (p.Asp718Asn) rs1579574994
NM_198253.3(TERT):c.2154C>A (p.Asp718Glu)
NM_198253.3(TERT):c.2160C>G (p.Ile720Met)
NM_198253.3(TERT):c.2165A>G (p.Gln722Arg) rs1554040902
NM_198253.3(TERT):c.2172G>C (p.Arg724Ser) rs1749793761
NM_198253.3(TERT):c.2181G>T (p.Glu727Asp)
NM_198253.3(TERT):c.2182G>A (p.Val728Ile) rs2126640328
NM_198253.3(TERT):c.2187C>G (p.Ile729Met) rs200819224
NM_198253.3(TERT):c.219+3G>A rs2126691323
NM_198253.3(TERT):c.219+6C>A rs1751283546
NM_198253.3(TERT):c.2194A>G (p.Ile732Val)
NM_198253.3(TERT):c.2197A>G (p.Ile733Val) rs1749791069
NM_198253.3(TERT):c.2197A>T (p.Ile733Phe) rs1749791069
NM_198253.3(TERT):c.220-3C>T rs774658501
NM_198253.3(TERT):c.2200A>G (p.Lys734Glu) rs767819088
NM_198253.3(TERT):c.2207A>G (p.Gln736Arg) rs1749790259
NM_198253.3(TERT):c.2209A>G (p.Asn737Asp) rs933160193
NM_198253.3(TERT):c.2210A>G (p.Asn737Ser) rs1749789809
NM_198253.3(TERT):c.2211C>A (p.Asn737Lys) rs1749789535
NM_198253.3(TERT):c.2216A>G (p.Tyr739Cys)
NM_198253.3(TERT):c.2219G>A (p.Cys740Tyr) rs1749788238
NM_198253.3(TERT):c.221T>A (p.Val74Glu) rs1751273218
NM_198253.3(TERT):c.2221G>C (p.Val741Leu)
NM_198253.3(TERT):c.2224C>T (p.Arg742Cys)
NM_198253.3(TERT):c.2231A>G (p.Tyr744Cys)
NM_198253.3(TERT):c.2236G>A (p.Val746Met) rs1321220917
NM_198253.3(TERT):c.2239G>A (p.Val747Ile) rs1554040888
NM_198253.3(TERT):c.2243_2266dup (p.Val755_Arg756insGlnLysAlaAlaHisGlyHisVal)
NM_198253.3(TERT):c.2248G>A (p.Ala750Thr) rs1579574831
NM_198253.3(TERT):c.2251G>T (p.Ala751Ser)
NM_198253.3(TERT):c.2257G>A (p.Gly753Arg)
NM_198253.3(TERT):c.2262C>G (p.His754Gln)
NM_198253.3(TERT):c.2267G>T (p.Arg756Leu) rs374206276
NM_198253.3(TERT):c.2270A>G (p.Lys757Arg) rs1187645843
NM_198253.3(TERT):c.2272G>T (p.Ala758Ser) rs756195573
NM_198253.3(TERT):c.2273C>T (p.Ala758Val)
NM_198253.3(TERT):c.227G>C (p.Cys76Ser) rs1192287561
NM_198253.3(TERT):c.2282G>A (p.Ser761Asn) rs1749780917
NM_198253.3(TERT):c.2284C>T (p.His762Tyr)
NM_198253.3(TERT):c.2286+5G>A rs1060502997
NM_198253.3(TERT):c.2286+5G>C rs1060502997
NM_198253.3(TERT):c.2286+6G>T rs1749779984
NM_198253.3(TERT):c.2287-3C>T rs775070951
NM_198253.3(TERT):c.2291C>G (p.Ser764Cys) rs1749100396
NM_198253.3(TERT):c.2291C>T (p.Ser764Phe) rs1749100396
NM_198253.3(TERT):c.2293A>G (p.Thr765Ala)
NM_198253.3(TERT):c.2294C>T (p.Thr765Ile) rs1749100008
NM_198253.3(TERT):c.2299A>G (p.Thr767Ala)
NM_198253.3(TERT):c.229C>G (p.Leu77Val) rs1751271727
NM_198253.3(TERT):c.22C>G (p.Arg8Gly) rs1579599353
NM_198253.3(TERT):c.2306T>A (p.Leu769His)
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.2311C>G (p.Pro771Ala)
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) rs121918663
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2332G>A (p.Ala778Thr) rs781360741
NM_198253.3(TERT):c.233A>G (p.Lys78Arg)
NM_198253.3(TERT):c.2345A>C (p.Glu782Ala) rs1060503012
NM_198253.3(TERT):c.2346G>C (p.Glu782Asp)
NM_198253.3(TERT):c.2348C>T (p.Thr783Ile) rs2126617732
NM_198253.3(TERT):c.2350A>G (p.Ser784Gly)
NM_198253.3(TERT):c.2353C>T (p.Pro785Ser) rs755822641
NM_198253.3(TERT):c.2360G>T (p.Arg787Met) rs1202226678
NM_198253.3(TERT):c.2362G>A (p.Asp788Asn)
NM_198253.3(TERT):c.2363A>G (p.Asp788Gly) rs1749092135
NM_198253.3(TERT):c.2374A>G (p.Ile792Val) rs1289861532
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) rs1043358053
NM_198253.3(TERT):c.2379G>T (p.Glu793Asp)
NM_198253.3(TERT):c.2381A>G (p.Gln794Arg) rs1749089732
NM_198253.3(TERT):c.2382+3C>A rs1579564797
NM_198253.3(TERT):c.2382+3C>T rs1579564797
NM_198253.3(TERT):c.2382+4T>A
NM_198253.3(TERT):c.2382+4T>C rs1579564791
NM_198253.3(TERT):c.2382+6G>A rs1400066265
NM_198253.3(TERT):c.2382+6G>C rs1400066265
NM_198253.3(TERT):c.2382+6G>T rs1400066265
NM_198253.3(TERT):c.2382G>T (p.Gln794His)
NM_198253.3(TERT):c.2383-16_2383-15inv
NM_198253.3(TERT):c.2383-3C>T rs2126614684
NM_198253.3(TERT):c.2396A>G (p.Asn799Ser) rs2126614637
NM_198253.3(TERT):c.2398G>A (p.Glu800Lys)
NM_198253.3(TERT):c.23G>A (p.Arg8Gln)
NM_198253.3(TERT):c.2401G>A (p.Ala801Thr) rs1749006856
NM_198253.3(TERT):c.2401G>C (p.Ala801Pro) rs1749006856
NM_198253.3(TERT):c.2401G>T (p.Ala801Ser)
NM_198253.3(TERT):c.2402C>A (p.Ala801Asp)
NM_198253.3(TERT):c.2402C>G (p.Ala801Gly) rs1749006590
NM_198253.3(TERT):c.2402C>T (p.Ala801Val)
NM_198253.3(TERT):c.2405G>T (p.Ser802Ile) rs1060503004
NM_198253.3(TERT):c.2410G>A (p.Gly804Ser) rs1749005440
NM_198253.3(TERT):c.2411G>A (p.Gly804Asp) rs1442845192
NM_198253.3(TERT):c.2413C>A (p.Leu805Ile)
NM_198253.3(TERT):c.2413C>T (p.Leu805Phe) rs2126614509
NM_198253.3(TERT):c.2417T>C (p.Phe806Ser) rs1749004999
NM_198253.3(TERT):c.2421C>G (p.Asp807Glu) rs771997164
NM_198253.3(TERT):c.2428C>G (p.Leu810Val)
NM_198253.3(TERT):c.2432G>T (p.Arg811Leu)
NM_198253.3(TERT):c.2438T>C (p.Met813Thr)
NM_198253.3(TERT):c.2443C>T (p.His815Tyr)
NM_198253.3(TERT):c.2444A>C (p.His815Pro) rs771392980
NM_198253.3(TERT):c.2446C>A (p.His816Asn) rs1579563373
NM_198253.3(TERT):c.2446C>T (p.His816Tyr) rs1579563373
NM_198253.3(TERT):c.2450C>G (p.Ala817Gly)
NM_198253.3(TERT):c.2455C>A (p.Arg819Ser) rs746621306
NM_198253.3(TERT):c.2459T>G (p.Ile820Ser)
NM_198253.3(TERT):c.2466C>T (p.Gly822=)
NM_198253.3(TERT):c.2467A>G (p.Lys823Glu) rs2126614257
NM_198253.3(TERT):c.2468+17G>A
NM_198253.3(TERT):c.2468+17G>C
NM_198253.3(TERT):c.2468+20G>A
NM_198253.3(TERT):c.2471C>G (p.Ser824Cys)
NM_198253.3(TERT):c.2473T>C (p.Tyr825His)
NM_198253.3(TERT):c.2476G>T (p.Val826Phe) rs1060503009
NM_198253.3(TERT):c.248G>C (p.Arg83Pro)
NM_198253.3(TERT):c.2495C>T (p.Pro832Leu) rs1748794843
NM_198253.3(TERT):c.2509C>T (p.Leu837Phe)
NM_198253.3(TERT):c.2525G>A (p.Cys842Tyr) rs1748789851
NM_198253.3(TERT):c.2527A>G (p.Ser843Gly) rs1554039732
NM_198253.3(TERT):c.2542G>A (p.Asp848Asn) rs1003575407
NM_198253.3(TERT):c.2555A>G (p.Lys852Arg)
NM_198253.3(TERT):c.2562T>G (p.Phe854Leu) rs2126607250
NM_198253.3(TERT):c.2564C>A (p.Ala855Glu)
NM_198253.3(TERT):c.2568G>T (p.Gly856=)
NM_198253.3(TERT):c.2575C>T (p.Arg859Trp) rs876658018
NM_198253.3(TERT):c.2578G>A (p.Asp860Asn) rs1748780421
NM_198253.3(TERT):c.2579A>G (p.Asp860Gly) rs2126607112
NM_198253.3(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.3(TERT):c.2582+3G>A rs1748779829
NM_198253.3(TERT):c.2582+6G>A rs2126607087
NM_198253.3(TERT):c.2583-3T>C rs111436818
NM_198253.3(TERT):c.2583G>A (p.Gly861=)
NM_198253.3(TERT):c.2593C>T (p.Arg865Cys) rs372868296
NM_198253.3(TERT):c.2605G>T (p.Asp869Tyr) rs1748617474
NM_198253.3(TERT):c.2608T>A (p.Phe870Ile) rs1748617178
NM_198253.3(TERT):c.2612T>G (p.Leu871Trp) rs1748616956
NM_198253.3(TERT):c.2616G>C (p.Leu872Phe) rs1561194081
NM_198253.3(TERT):c.261G>T (p.Arg87Ser) rs1033845124
NM_198253.3(TERT):c.2626C>A (p.His876Asn) rs1483412488
NM_198253.3(TERT):c.2637C>G (p.His879Gln) rs1307380469
NM_198253.3(TERT):c.2642A>T (p.Lys881Ile) rs751767277
NM_198253.3(TERT):c.2645C>G (p.Thr882Ser)
NM_198253.3(TERT):c.2654+5G>A
NM_198253.3(TERT):c.2654+6G>A
NM_198253.3(TERT):c.2669G>A (p.Gly890Asp)
NM_198253.3(TERT):c.2671G>A (p.Val891Ile) rs2126595366
NM_198253.3(TERT):c.2674C>T (p.Pro892Ser)
NM_198253.3(TERT):c.2677G>C (p.Glu893Gln) rs2126595355
NM_198253.3(TERT):c.2689G>T (p.Val897Leu) rs559028617
NM_198253.3(TERT):c.2692G>C (p.Val898Leu)
NM_198253.3(TERT):c.2696A>C (p.Asn899Thr) rs1748462245
NM_198253.3(TERT):c.26C>T (p.Ala9Val)
NM_198253.3(TERT):c.271C>T (p.Arg91Cys) rs1751268783
NM_198253.3(TERT):c.2725G>A (p.Val909Ile) rs537649320
NM_198253.3(TERT):c.2733C>G (p.Asp911Glu)
NM_198253.3(TERT):c.2734G>A (p.Glu912Lys) rs746883330
NM_198253.3(TERT):c.2738C>G (p.Ala913Gly) rs2126595114
NM_198253.3(TERT):c.2738C>T (p.Ala913Val)
NM_198253.3(TERT):c.2743G>A (p.Gly915Ser) rs1579555878
NM_198253.3(TERT):c.2747G>A (p.Gly916Asp) rs2126595048
NM_198253.3(TERT):c.274G>A (p.Gly92Ser)
NM_198253.3(TERT):c.2750C>A (p.Thr917Lys) rs779102560
NM_198253.3(TERT):c.2752G>A (p.Ala918Thr) rs1748456485
NM_198253.3(TERT):c.2753C>T (p.Ala918Val)
NM_198253.3(TERT):c.2758G>A (p.Val920Ile) rs1748456126
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2773C>T (p.His925Tyr) rs1748455013
NM_198253.3(TERT):c.2775C>A (p.His925Gln) rs34528119
NM_198253.3(TERT):c.2777G>C (p.Gly926Ala)
NM_198253.3(TERT):c.2780T>C (p.Leu927Pro)
NM_198253.3(TERT):c.2783T>G (p.Phe928Cys) rs1748453531
NM_198253.3(TERT):c.2789G>T (p.Trp930Leu) rs1748452946
NM_198253.3(TERT):c.278C>A (p.Ala93Glu)
NM_198253.3(TERT):c.278C>G (p.Ala93Gly)
NM_198253.3(TERT):c.278C>T (p.Ala93Val) rs1751268584
NM_198253.3(TERT):c.2794G>A (p.Gly932Ser)
NM_198253.3(TERT):c.2806G>C (p.Asp936His)
NM_198253.3(TERT):c.280A>C (p.Lys94Gln) rs1751268378
NM_198253.3(TERT):c.2815A>C (p.Thr939Pro)
NM_198253.3(TERT):c.282G>C (p.Lys94Asn) rs1751268163
NM_198253.3(TERT):c.282G>T (p.Lys94Asn) rs1751268163
NM_198253.3(TERT):c.2832C>A (p.Ser944Arg) rs1192852544
NM_198253.3(TERT):c.2833G>A (p.Asp945Asn)
NM_198253.3(TERT):c.2836T>C (p.Tyr946His) rs1748447400
NM_198253.3(TERT):c.2843+6C>A rs372086160
NM_198253.3(TERT):c.2844-3C>T
NM_198253.3(TERT):c.285C>A (p.Asn95Lys) rs1751267963
NM_198253.3(TERT):c.2860A>G (p.Ile954Val) rs1748158658
NM_198253.3(TERT):c.2866G>A (p.Ala956Thr)
NM_198253.3(TERT):c.2882A>C (p.Asn961Thr)
NM_198253.3(TERT):c.2882A>G (p.Asn961Ser) rs1561190919
NM_198253.3(TERT):c.2884C>A (p.Arg962Ser) rs144697790
NM_198253.3(TERT):c.2887G>A (p.Gly963Ser) rs201272197
NM_198253.3(TERT):c.2897C>T (p.Ala966Val) rs766236334
NM_198253.3(TERT):c.2899G>A (p.Gly967Arg)
NM_198253.3(TERT):c.2904G>C (p.Arg968Ser)
NM_198253.3(TERT):c.2907C>G (p.Asn969Lys)
NM_198253.3(TERT):c.2908A>G (p.Met970Val) rs762647113
NM_198253.3(TERT):c.2908A>T (p.Met970Leu) rs762647113
NM_198253.3(TERT):c.290T>G (p.Leu97Arg)
NM_198253.3(TERT):c.2911C>G (p.Arg971Gly)
NM_198253.3(TERT):c.2911C>T (p.Arg971Cys) rs2126584533
NM_198253.3(TERT):c.2912G>A (p.Arg971His) rs1748153358
NM_198253.3(TERT):c.2914C>G (p.Arg972Gly)
NM_198253.3(TERT):c.2918A>C (p.Lys973Thr)
NM_198253.3(TERT):c.2918A>G (p.Lys973Arg)
NM_198253.3(TERT):c.2923T>C (p.Phe975Leu) rs2126584472
NM_198253.3(TERT):c.2927G>A (p.Gly976Glu) rs1748151682
NM_198253.3(TERT):c.2929G>A (p.Val977Ile) rs1482563385
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.2944T>C (p.Cys982Arg)
NM_198253.3(TERT):c.2945G>A (p.Cys982Tyr) rs1554038806
NM_198253.3(TERT):c.2945G>T (p.Cys982Phe) rs1554038806
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.2951G>A (p.Ser984Asn) rs1748149112
NM_198253.3(TERT):c.2952C>G (p.Ser984Arg) rs1159346733
NM_198253.3(TERT):c.2970+3G>A
NM_198253.3(TERT):c.2970+6C>T rs1396703353
NM_198253.3(TERT):c.2987C>A (p.Thr996Lys) rs1223394183
NM_198253.3(TERT):c.2995A>G (p.Thr999Ala) rs1747930885
NM_198253.3(TERT):c.3001A>G (p.Ile1001Val) rs1747930001
NM_198253.3(TERT):c.3013C>T (p.Leu1005Phe)
NM_198253.3(TERT):c.301T>G (p.Phe101Val) rs1554043101
NM_198253.3(TERT):c.3025G>T (p.Ala1009Ser) rs1747928809
NM_198253.3(TERT):c.3031A>C (p.Arg1011=) rs2126573316
NM_198253.3(TERT):c.3037C>T (p.His1013Tyr)
NM_198253.3(TERT):c.3040G>A (p.Ala1014Thr)
NM_198253.3(TERT):c.3040G>T (p.Ala1014Ser) rs1747650909
NM_198253.3(TERT):c.304G>T (p.Ala102Ser)
NM_198253.3(TERT):c.3050T>C (p.Leu1017Pro)
NM_198253.3(TERT):c.305C>T (p.Ala102Val) rs2126690624
NM_198253.3(TERT):c.3062T>G (p.Phe1021Cys) rs2126562843
NM_198253.3(TERT):c.3065A>T (p.His1022Leu) rs878855304
NM_198253.3(TERT):c.3072A>T (p.Gln1024His)
NM_198253.3(TERT):c.3074T>C (p.Val1025Ala) rs1338054182
NM_198253.3(TERT):c.3076T>G (p.Trp1026Gly) rs1747645893
NM_198253.3(TERT):c.307_308delinsGG (p.Leu103Gly) rs1751266537
NM_198253.3(TERT):c.3085C>T (p.Pro1029Ser) rs2126562746
NM_198253.3(TERT):c.3089C>T (p.Thr1030Ile)
NM_198253.3(TERT):c.308T>C (p.Leu103Pro)
NM_198253.3(TERT):c.3094T>G (p.Phe1032Val)
NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys) rs777672180
NM_198253.3(TERT):c.3107T>C (p.Ile1036Thr)
NM_198253.3(TERT):c.3113A>C (p.Asp1038Ala) rs1747641424
NM_198253.3(TERT):c.3115A>C (p.Thr1039Pro) rs1747640936
NM_198253.3(TERT):c.3115A>G (p.Thr1039Ala) rs1747640936
NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser) rs770144114
NM_198253.3(TERT):c.3122C>G (p.Ser1041Cys)
NM_198253.3(TERT):c.3122C>T (p.Ser1041Phe) rs2126562513
NM_198253.3(TERT):c.3124C>T (p.Leu1042Phe) rs1333205745
NM_198253.3(TERT):c.3134C>G (p.Ser1045Cys) rs1747638951
NM_198253.3(TERT):c.3136A>G (p.Ile1046Val)
NM_198253.3(TERT):c.3140T>C (p.Leu1047Pro) rs1747637768
NM_198253.3(TERT):c.3146C>G (p.Ala1049Gly) rs2126562351
NM_198253.3(TERT):c.3153C>A (p.Asn1051Lys)
NM_198253.3(TERT):c.3154G>A (p.Ala1052Thr) rs968981940
NM_198253.3(TERT):c.3157+5G>A
NM_198253.3(TERT):c.3158G>A (p.Gly1053Glu)
NM_198253.3(TERT):c.316G>T (p.Gly106Trp) rs1751265277
NM_198253.3(TERT):c.316_317inv (p.Gly106Pro)
NM_198253.3(TERT):c.3170G>A (p.Gly1057Glu)
NM_198253.3(TERT):c.3172G>A (p.Ala1058Thr)
NM_198253.3(TERT):c.3173C>T (p.Ala1058Val)
NM_198253.3(TERT):c.3176A>G (p.Lys1059Arg) rs1561186570
NM_198253.3(TERT):c.3177G>C (p.Lys1059Asn) rs1747574274
NM_198253.3(TERT):c.317G>A (p.Gly106Glu) rs1024983534
NM_198253.3(TERT):c.3181G>A (p.Ala1061Thr) rs1418488828
NM_198253.3(TERT):c.3181G>T (p.Ala1061Ser) rs1418488828
NM_198253.3(TERT):c.3184G>T (p.Ala1062Ser) rs35719940
NM_198253.3(TERT):c.3191C>T (p.Pro1064Leu) rs886059831
NM_198253.3(TERT):c.3193C>G (p.Leu1065Val) rs1747571212
NM_198253.3(TERT):c.3199T>G (p.Ser1067Ala) rs1747570810
NM_198253.3(TERT):c.319G>A (p.Ala107Thr) rs1751264625
NM_198253.3(TERT):c.319G>C (p.Ala107Pro) rs1751264625
NM_198253.3(TERT):c.319G>T (p.Ala107Ser) rs1751264625
NM_198253.3(TERT):c.3200C>A (p.Ser1067Tyr) rs1579542703
NM_198253.3(TERT):c.3202G>C (p.Glu1068Gln)
NM_198253.3(TERT):c.3204G>T (p.Glu1068Asp)
NM_198253.3(TERT):c.320C>A (p.Ala107Asp) rs1751264456
NM_198253.3(TERT):c.3212A>G (p.Gln1071Arg)
NM_198253.3(TERT):c.3213G>T (p.Gln1071His) rs1579542670
NM_198253.3(TERT):c.3226C>G (p.Gln1076Glu)
NM_198253.3(TERT):c.3229G>C (p.Ala1077Pro) rs1579542647
NM_198253.3(TERT):c.322C>A (p.Arg108Ser) rs1478218565
NM_198253.3(TERT):c.322C>T (p.Arg108Cys)
NM_198253.3(TERT):c.323G>T (p.Arg108Leu)
NM_198253.3(TERT):c.3244C>G (p.Leu1082Val)
NM_198253.3(TERT):c.3248C>G (p.Thr1083Ser) rs997885750
NM_198253.3(TERT):c.3251del (p.Arg1084fs)
NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly) rs1747563544
NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys) rs1747563544
NM_198253.3(TERT):c.3268G>C (p.Val1090Leu) rs121918664
NM_198253.3(TERT):c.3272C>G (p.Pro1091Arg)
NM_198253.3(TERT):c.3272C>T (p.Pro1091Leu) rs1217591907
NM_198253.3(TERT):c.3292A>C (p.Thr1098Pro)
NM_198253.3(TERT):c.3295+10G>A rs376994291
NM_198253.3(TERT):c.3295+1G>A
NM_198253.3(TERT):c.3295+2C>T rs2126559316
NM_198253.3(TERT):c.3295+5G>A rs2126559305
NM_198253.3(TERT):c.3295+5G>C
NM_198253.3(TERT):c.3295+6T>C rs2126559299
NM_198253.3(TERT):c.3295G>A (p.Ala1099Thr) rs2126559326
NM_198253.3(TERT):c.3296-3C>T
NM_198253.3(TERT):c.3296-5C>A
NM_198253.3(TERT):c.3299A>G (p.Gln1100Arg)
NM_198253.3(TERT):c.329G>A (p.Gly110Asp)
NM_198253.3(TERT):c.32G>C (p.Arg11Pro)
NM_198253.3(TERT):c.3300G>A (p.Gln1100=)
NM_198253.3(TERT):c.3304C>G (p.Gln1102Glu)
NM_198253.3(TERT):c.3307C>G (p.Leu1103Val)
NM_198253.3(TERT):c.3310A>T (p.Ser1104Cys) rs1579541768
NM_198253.3(TERT):c.3313C>T (p.Arg1105Trp) rs945881076
NM_198253.3(TERT):c.3317A>G (p.Lys1106Arg) rs1579541749
NM_198253.3(TERT):c.331C>T (p.Pro111Ser) rs1248729123
NM_198253.3(TERT):c.3322C>T (p.Pro1108Ser)
NM_198253.3(TERT):c.3323C>A (p.Pro1108Gln)
NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg) rs376255453
NM_198253.3(TERT):c.3325G>A (p.Gly1109Arg) rs2126557234
NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu)
NM_198253.3(TERT):c.3328A>G (p.Thr1110Ala)
NM_198253.3(TERT):c.332C>G (p.Pro111Arg) rs1060503007
NM_198253.3(TERT):c.3332C>A (p.Thr1111Lys)
NM_198253.3(TERT):c.3334C>A (p.Leu1112Met) rs1579541689
NM_198253.3(TERT):c.3335T>C (p.Leu1112Pro)
NM_198253.3(TERT):c.3337A>C (p.Thr1113Pro)
NM_198253.3(TERT):c.3338C>T (p.Thr1113Ile) rs1404530857
NM_198253.3(TERT):c.3340G>A (p.Ala1114Thr)
NM_198253.3(TERT):c.3341C>T (p.Ala1114Val)
NM_198253.3(TERT):c.3346G>C (p.Glu1116Gln) rs1196160200
NM_198253.3(TERT):c.3350C>A (p.Ala1117Asp) rs372822033
NM_198253.3(TERT):c.3350C>T (p.Ala1117Val) rs372822033
NM_198253.3(TERT):c.3352G>T (p.Ala1118Ser) rs756628621
NM_198253.3(TERT):c.3358A>C (p.Asn1120His) rs781651959
NM_198253.3(TERT):c.335C>G (p.Pro112Arg)
NM_198253.3(TERT):c.3361C>A (p.Pro1121Thr)
NM_198253.3(TERT):c.3361C>G (p.Pro1121Ala)
NM_198253.3(TERT):c.3362C>G (p.Pro1121Arg) rs1554038054
NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu) rs1554038054
NM_198253.3(TERT):c.3367C>G (p.Leu1123Val) rs1554038052
NM_198253.3(TERT):c.3371C>T (p.Pro1124Leu) rs2126556867
NM_198253.3(TERT):c.3373T>G (p.Ser1125Ala)
NM_198253.3(TERT):c.3386C>A (p.Thr1129Asn) rs775095158
NM_198253.3(TERT):c.3386C>G (p.Thr1129Ser) rs775095158
NM_198253.3(TERT):c.341C>T (p.Ala114Val)
NM_198253.3(TERT):c.343T>C (p.Phe115Leu)
NM_198253.3(TERT):c.34T>C (p.Ser12Pro)
NM_198253.3(TERT):c.352A>T (p.Ser118Cys) rs1751258801
NM_198253.3(TERT):c.353G>A (p.Ser118Asn) rs2126690251
NM_198253.3(TERT):c.363C>G (p.Ser121Arg) rs1751257484
NM_198253.3(TERT):c.365A>G (p.Tyr122Cys) rs1751257287
NM_198253.3(TERT):c.370C>G (p.Pro124Ala) rs2126690168
NM_198253.3(TERT):c.371C>T (p.Pro124Leu)
NM_198253.3(TERT):c.389C>T (p.Ala130Val)
NM_198253.3(TERT):c.391C>G (p.Leu131Val) rs1018793583
NM_198253.3(TERT):c.392T>G (p.Leu131Arg) rs1579598607
NM_198253.3(TERT):c.395G>C (p.Arg132Pro)
NM_198253.3(TERT):c.397G>A (p.Gly133Arg)
NM_198253.3(TERT):c.402C>A (p.Ser134Arg)
NM_198253.3(TERT):c.402C>G (p.Ser134Arg)
NM_198253.3(TERT):c.403G>C (p.Gly135Arg) rs200843534
NM_198253.3(TERT):c.40C>A (p.Leu14Met)
NM_198253.3(TERT):c.412G>A (p.Gly138Arg) rs2126689938
NM_198253.3(TERT):c.413G>C (p.Gly138Ala)
NM_198253.3(TERT):c.416T>G (p.Leu139Arg) rs1579598547
NM_198253.3(TERT):c.427C>T (p.Arg143Cys) rs1751246930
NM_198253.3(TERT):c.430G>A (p.Val144Met) rs199422291
NM_198253.3(TERT):c.433G>A (p.Gly145Ser)
NM_198253.3(TERT):c.440A>G (p.Asp147Gly)
NM_198253.3(TERT):c.442G>T (p.Val148Leu) rs745363596
NM_198253.3(TERT):c.448G>T (p.Val150Phe) rs1751244550
NM_198253.3(TERT):c.460G>T (p.Ala154Ser)
NM_198253.3(TERT):c.470C>T (p.Ala157Val) rs2126689651
NM_198253.3(TERT):c.472C>G (p.Leu158Val)
NM_198253.3(TERT):c.472C>T (p.Leu158Phe)
NM_198253.3(TERT):c.47G>A (p.Ser16Asn)
NM_198253.3(TERT):c.482T>C (p.Leu161Pro)
NM_198253.3(TERT):c.484G>A (p.Val162Met) rs1751241289
NM_198253.3(TERT):c.49C>T (p.His17Tyr)
NM_198253.3(TERT):c.4C>A (p.Pro2Thr) rs1751303585
NM_198253.3(TERT):c.4C>G (p.Pro2Ala) rs1751303585
NM_198253.3(TERT):c.508_531del (p.Val170_Gln177del)
NM_198253.3(TERT):c.515G>A (p.Gly172Glu)
NM_198253.3(TERT):c.517C>T (p.Pro173Ser)
NM_198253.3(TERT):c.518C>G (p.Pro173Arg)
NM_198253.3(TERT):c.518C>T (p.Pro173Leu)
NM_198253.3(TERT):c.51C>G (p.His17Gln)
NM_198253.3(TERT):c.521_547dup (p.Pro174_Thr182dup) rs1561214640
NM_198253.3(TERT):c.530A>G (p.Gln177Arg)
NM_198253.3(TERT):c.532C>G (p.Leu178Val) rs2126689432
NM_198253.3(TERT):c.535G>A (p.Gly179Ser) rs1751238098
NM_198253.3(TERT):c.536G>C (p.Gly179Ala) rs771590775
NM_198253.3(TERT):c.538G>A (p.Ala180Thr) rs1751237418
NM_198253.3(TERT):c.541G>T (p.Ala181Ser) rs759137449
NM_198253.3(TERT):c.542C>T (p.Ala181Val)
NM_198253.3(TERT):c.544A>G (p.Thr182Ala) rs878855305
NM_198253.3(TERT):c.544A>T (p.Thr182Ser) rs878855305
NM_198253.3(TERT):c.545C>G (p.Thr182Ser) rs1001681226
NM_198253.3(TERT):c.545C>T (p.Thr182Ile) rs1001681226
NM_198253.3(TERT):c.547C>G (p.Gln183Glu) rs945064716
NM_198253.3(TERT):c.548A>G (p.Gln183Arg) rs1751235742
NM_198253.3(TERT):c.554G>A (p.Arg185Gln) rs749187042
NM_198253.3(TERT):c.556C>T (p.Pro186Ser) rs2126689257
NM_198253.3(TERT):c.557C>T (p.Pro186Leu) rs2126689250
NM_198253.3(TERT):c.559C>A (p.Pro187Thr) rs1751234467
NM_198253.3(TERT):c.560C>T (p.Pro187Leu) rs906128293
NM_198253.3(TERT):c.565C>G (p.His189Asp) rs1561214604
NM_198253.3(TERT):c.566A>C (p.His189Pro) rs769638625
NM_198253.3(TERT):c.568G>T (p.Ala190Ser)
NM_198253.3(TERT):c.569C>G (p.Ala190Gly)
NM_198253.3(TERT):c.572G>A (p.Ser191Asn) rs11952056
NM_198253.3(TERT):c.577C>A (p.Pro193Thr) rs1271112115
NM_198253.3(TERT):c.577C>T (p.Pro193Ser) rs1271112115
NM_198253.3(TERT):c.578C>T (p.Pro193Leu) rs751762765
NM_198253.3(TERT):c.580C>G (p.Arg194Gly)
NM_198253.3(TERT):c.581G>A (p.Arg194Gln) rs1579598204
NM_198253.3(TERT):c.583A>G (p.Arg195Gly)
NM_198253.3(TERT):c.584G>A (p.Arg195Lys)
NM_198253.3(TERT):c.584G>C (p.Arg195Thr)
NM_198253.3(TERT):c.587G>A (p.Arg196His)
NM_198253.3(TERT):c.58G>C (p.Glu20Gln) rs2126692596
NM_198253.3(TERT):c.590T>G (p.Leu197Arg) rs1751230105
NM_198253.3(TERT):c.592G>C (p.Gly198Arg) rs758442518
NM_198253.3(TERT):c.593G>T (p.Gly198Val)
NM_198253.3(TERT):c.598G>A (p.Glu200Lys)
NM_198253.3(TERT):c.599A>G (p.Glu200Gly) rs2126688908
NM_198253.3(TERT):c.5C>G (p.Pro2Arg) rs1751303315
NM_198253.3(TERT):c.5C>T (p.Pro2Leu) rs1751303315
NM_198253.3(TERT):c.602G>A (p.Arg201Gln) rs1060503003
NM_198253.3(TERT):c.602G>C (p.Arg201Pro)
NM_198253.3(TERT):c.607T>A (p.Trp203Arg)
NM_198253.3(TERT):c.607T>G (p.Trp203Gly)
NM_198253.3(TERT):c.608G>C (p.Trp203Ser) rs1751227721
NM_198253.3(TERT):c.609G>C (p.Trp203Cys) rs1561214494
NM_198253.3(TERT):c.612C>A (p.Asn204Lys) rs2126688826
NM_198253.3(TERT):c.614A>C (p.His205Pro)
NM_198253.3(TERT):c.618C>A (p.Ser206Arg) rs759142412
NM_198253.3(TERT):c.625G>A (p.Glu209Lys)
NM_198253.3(TERT):c.627G>T (p.Glu209Asp)
NM_198253.3(TERT):c.628G>A (p.Ala210Thr) rs1751225599
NM_198253.3(TERT):c.634G>A (p.Val212Ile) rs1751224811
NM_198253.3(TERT):c.634G>C (p.Val212Leu)
NM_198253.3(TERT):c.635T>C (p.Val212Ala)
NM_198253.3(TERT):c.637C>T (p.Pro213Ser) rs2126688704
NM_198253.3(TERT):c.638C>T (p.Pro213Leu) rs773202955
NM_198253.3(TERT):c.643G>A (p.Gly215Ser)
NM_198253.3(TERT):c.643G>C (p.Gly215Arg)
NM_198253.3(TERT):c.646C>A (p.Leu216Met)
NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr) rs1554043029
NM_198253.3(TERT):c.650C>T (p.Pro217Leu)
NM_198253.3(TERT):c.652G>A (p.Ala218Thr) rs1554043028
NM_198253.3(TERT):c.653C>A (p.Ala218Asp) rs1751222229
NM_198253.3(TERT):c.653C>G (p.Ala218Gly) rs1751222229
NM_198253.3(TERT):c.653C>T (p.Ala218Val)
NM_198253.3(TERT):c.661G>A (p.Ala221Thr) rs2126688553
NM_198253.3(TERT):c.662C>T (p.Ala221Val) rs1751221457
NM_198253.3(TERT):c.664A>T (p.Arg222Trp) rs1751220903
NM_198253.3(TERT):c.665G>A (p.Arg222Lys) rs1751220663
NM_198253.3(TERT):c.665G>C (p.Arg222Thr) rs1751220663
NM_198253.3(TERT):c.670C>G (p.Arg224Gly) rs750497661
NM_198253.3(TERT):c.671G>A (p.Arg224His) rs1388678536
NM_198253.3(TERT):c.671_672delinsAA (p.Arg224Gln) rs2126688443
NM_198253.3(TERT):c.673G>A (p.Gly225Arg) rs1060502999
NM_198253.3(TERT):c.673G>C (p.Gly225Arg) rs1060502999
NM_198253.3(TERT):c.676G>T (p.Gly226Cys) rs1751218496
NM_198253.3(TERT):c.677G>T (p.Gly226Val) rs1325261470
NM_198253.3(TERT):c.67C>T (p.Pro23Ser)
NM_198253.3(TERT):c.682G>A (p.Ala228Thr) rs2126688374
NM_198253.3(TERT):c.683C>T (p.Ala228Val)
NM_198253.3(TERT):c.685A>C (p.Ser229Arg) rs1212760122
NM_198253.3(TERT):c.686G>A (p.Ser229Asn) rs1751217170
NM_198253.3(TERT):c.686G>T (p.Ser229Ile)
NM_198253.3(TERT):c.689G>T (p.Arg230Leu) rs957794083
NM_198253.3(TERT):c.692G>A (p.Ser231Asn)
NM_198253.3(TERT):c.695T>G (p.Leu232Arg)
NM_198253.3(TERT):c.706A>G (p.Lys236Glu) rs2126688239
NM_198253.3(TERT):c.710G>A (p.Arg237Lys) rs1751214368
NM_198253.3(TERT):c.712C>T (p.Pro238Ser) rs149427814
NM_198253.3(TERT):c.713C>T (p.Pro238Leu)
NM_198253.3(TERT):c.718C>T (p.Arg240Cys) rs1252662816
NM_198253.3(TERT):c.719G>T (p.Arg240Leu) rs751231538
NM_198253.3(TERT):c.724G>A (p.Ala242Thr) rs766054124
NM_198253.3(TERT):c.724G>T (p.Ala242Ser)
NM_198253.3(TERT):c.727G>A (p.Ala243Thr)
NM_198253.3(TERT):c.735G>C (p.Glu245Asp)
NM_198253.3(TERT):c.735G>T (p.Glu245Asp)
NM_198253.3(TERT):c.739G>C (p.Glu247Gln) rs1403395035
NM_198253.3(TERT):c.742C>T (p.Arg248Trp)
NM_198253.3(TERT):c.743G>A (p.Arg248Gln) rs1751210062
NM_198253.3(TERT):c.743G>C (p.Arg248Pro) rs1751210062
NM_198253.3(TERT):c.751G>C (p.Val251Leu) rs776569822
NM_198253.3(TERT):c.754G>A (p.Gly252Arg) rs1751208674
NM_198253.3(TERT):c.755G>A (p.Gly252Glu)
NM_198253.3(TERT):c.759G>C (p.Gln253His) rs1579597808
NM_198253.3(TERT):c.760G>T (p.Gly254Trp)
NM_198253.3(TERT):c.761G>A (p.Gly254Glu)
NM_198253.3(TERT):c.761G>C (p.Gly254Ala) rs1364961973
NM_198253.3(TERT):c.763T>A (p.Ser255Thr)
NM_198253.3(TERT):c.763T>G (p.Ser255Ala)
NM_198253.3(TERT):c.764C>A (p.Ser255Tyr) rs1751207450
NM_198253.3(TERT):c.767G>T (p.Trp256Leu)
NM_198253.3(TERT):c.772C>T (p.His258Tyr) rs1751206811
NM_198253.3(TERT):c.774C>A (p.His258Gln) rs1380946920
NM_198253.3(TERT):c.774C>G (p.His258Gln)
NM_198253.3(TERT):c.776C>A (p.Pro259Gln)
NM_198253.3(TERT):c.77C>A (p.Thr26Lys) rs760727529
NM_198253.3(TERT):c.781A>T (p.Arg261Trp) rs1554042983
NM_198253.3(TERT):c.782G>A (p.Arg261Lys) rs1554042981
NM_198253.3(TERT):c.783G>C (p.Arg261Ser) rs1286573582
NM_198253.3(TERT):c.785C>T (p.Thr262Met) rs150277224
NM_198253.3(TERT):c.786_787delinsAA (p.Arg263Ser)
NM_198253.3(TERT):c.787C>T (p.Arg263Cys)
NM_198253.3(TERT):c.788G>A (p.Arg263His) rs1751204143
NM_198253.3(TERT):c.794C>G (p.Pro265Arg) rs890272771
NM_198253.3(TERT):c.794C>T (p.Pro265Leu) rs890272771
NM_198253.3(TERT):c.799G>A (p.Asp267Asn) rs2126687735
NM_198253.3(TERT):c.803G>A (p.Arg268His) rs374426285
NM_198253.3(TERT):c.811T>C (p.Cys271Arg) rs1483728464
NM_198253.3(TERT):c.811T>G (p.Cys271Gly)
NM_198253.3(TERT):c.812G>A (p.Cys271Tyr)
NM_198253.3(TERT):c.812G>C (p.Cys271Ser) rs1751201697
NM_198253.3(TERT):c.815T>C (p.Val272Ala)
NM_198253.3(TERT):c.815T>G (p.Val272Gly)
NM_198253.3(TERT):c.817G>A (p.Val273Met)
NM_198253.3(TERT):c.817G>C (p.Val273Leu)
NM_198253.3(TERT):c.820T>A (p.Ser274Thr) rs1751200603
NM_198253.3(TERT):c.823C>T (p.Pro275Ser)
NM_198253.3(TERT):c.824C>T (p.Pro275Leu) rs1751200027
NM_198253.3(TERT):c.827C>A (p.Ala276Asp)
NM_198253.3(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.3(TERT):c.830G>T (p.Arg277Ile)
NM_198253.3(TERT):c.832C>T (p.Pro278Ser) rs2126687588
NM_198253.3(TERT):c.836C>T (p.Ala279Val)
NM_198253.3(TERT):c.83T>G (p.Val28Gly) rs1561215157
NM_198253.3(TERT):c.847A>C (p.Thr283Pro) rs1295657479
NM_198253.3(TERT):c.848C>T (p.Thr283Ile) rs1231931601
NM_198253.3(TERT):c.850T>C (p.Ser284Pro)
NM_198253.3(TERT):c.851C>T (p.Ser284Phe) rs1279190294
NM_198253.3(TERT):c.853T>G (p.Leu285Val)
NM_198253.3(TERT):c.856G>A (p.Glu286Lys) rs1346650601
NM_198253.3(TERT):c.857A>C (p.Glu286Ala) rs2126687381
NM_198253.3(TERT):c.863C>G (p.Ala288Gly) rs774657340
NM_198253.3(TERT):c.865C>T (p.Leu289Phe) rs1167028240
NM_198253.3(TERT):c.866T>C (p.Leu289Pro) rs1751193985
NM_198253.3(TERT):c.874A>C (p.Thr292Pro)
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.875C>T (p.Thr292Met) rs1751193051
NM_198253.3(TERT):c.877C>T (p.Arg293Cys)
NM_198253.3(TERT):c.878G>A (p.Arg293His)
NM_198253.3(TERT):c.878G>T (p.Arg293Leu) rs1309920442
NM_198253.3(TERT):c.884C>G (p.Ser295Cys)
NM_198253.3(TERT):c.889C>A (p.Pro297Thr) rs1751190674
NM_198253.3(TERT):c.889C>T (p.Pro297Ser) rs1751190674
NM_198253.3(TERT):c.890C>T (p.Pro297Leu) rs1212399654
NM_198253.3(TERT):c.892T>C (p.Ser298Pro)
NM_198253.3(TERT):c.892_893delinsAA (p.Ser298Asn) rs1579597416
NM_198253.3(TERT):c.893C>G (p.Ser298Cys) rs918075673
NM_198253.3(TERT):c.895G>T (p.Val299Leu) rs756624928
NM_198253.3(TERT):c.899G>A (p.Gly300Asp)
NM_198253.3(TERT):c.8G>C (p.Arg3Pro) rs2126693146
NM_198253.3(TERT):c.901C>A (p.Arg301Ser)
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204
NM_198253.3(TERT):c.902G>T (p.Arg301Leu) rs1268051204
NM_198253.3(TERT):c.905A>C (p.Gln302Pro)
NM_198253.3(TERT):c.905A>G (p.Gln302Arg) rs1751188438
NM_198253.3(TERT):c.906G>C (p.Gln302His)
NM_198253.3(TERT):c.908A>T (p.His303Leu) rs1751187792
NM_198253.3(TERT):c.913G>A (p.Ala305Thr) rs755275006
NM_198253.3(TERT):c.913_914delinsTT (p.Ala305Leu) rs2126686969
NM_198253.3(TERT):c.913_915delinsTTA (p.Ala305Leu)
NM_198253.3(TERT):c.917G>A (p.Gly306Asp) rs1554042920
NM_198253.3(TERT):c.920C>G (p.Pro307Arg) rs1751184986
NM_198253.3(TERT):c.920C>T (p.Pro307Leu)
NM_198253.3(TERT):c.923C>T (p.Pro308Leu) rs763462006
NM_198253.3(TERT):c.929C>T (p.Thr310Ile)
NM_198253.3(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.3(TERT):c.932C>T (p.Ser311Leu) rs974018889
NM_198253.3(TERT):c.934C>G (p.Arg312Gly)
NM_198253.3(TERT):c.935G>A (p.Arg312Gln) rs752511903
NM_198253.3(TERT):c.935G>C (p.Arg312Pro) rs752511903
NM_198253.3(TERT):c.937C>T (p.Pro313Ser) rs2126686771
NM_198253.3(TERT):c.938C>A (p.Pro313Gln)
NM_198253.3(TERT):c.940C>T (p.Pro314Ser)
NM_198253.3(TERT):c.941C>T (p.Pro314Leu) rs1306142415
NM_198253.3(TERT):c.943C>A (p.Arg315Ser) rs1554042911
NM_198253.3(TERT):c.943C>T (p.Arg315Cys) rs1554042911
NM_198253.3(TERT):c.949T>A (p.Trp317Arg)
NM_198253.3(TERT):c.949T>C (p.Trp317Arg)
NM_198253.3(TERT):c.952G>T (p.Asp318Tyr)
NM_198253.3(TERT):c.953A>G (p.Asp318Gly) rs2126686688
NM_198253.3(TERT):c.954C>G (p.Asp318Glu) rs964108245
NM_198253.3(TERT):c.958C>T (p.Pro320Ser)
NM_198253.3(TERT):c.959C>G (p.Pro320Arg) rs1751178484
NM_198253.3(TERT):c.959C>T (p.Pro320Leu) rs1751178484
NM_198253.3(TERT):c.964C>A (p.Pro322Thr)
NM_198253.3(TERT):c.964C>G (p.Pro322Ala) rs1751177770
NM_198253.3(TERT):c.964C>T (p.Pro322Ser)
NM_198253.3(TERT):c.965C>G (p.Pro322Arg) rs1438162956
NM_198253.3(TERT):c.973T>C (p.Tyr325His)
NM_198253.3(TERT):c.973T>G (p.Tyr325Asp) rs1579597164
NM_198253.3(TERT):c.974A>C (p.Tyr325Ser)
NM_198253.3(TERT):c.976G>T (p.Ala326Ser)
NM_198253.3(TERT):c.981G>T (p.Glu327Asp) rs1751174775
NM_198253.3(TERT):c.987G>C (p.Lys329Asn) rs892343950
NM_198253.3(TERT):c.98C>T (p.Pro33Leu) rs2126692176
NM_198253.3(TERT):c.990C>A (p.His330Gln) rs2126686464
NM_198253.3(TERT):c.999CTC[1] (p.Ser335del) rs1170942980
Single allele

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