ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2676
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_181882.3(PRX):c.3769G>A (p.Gly1257Arg) rs200332462 0.00058
NM_006096.4(NDRG1):c.122A>G (p.His41Arg) rs2233318 0.00054
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr) rs145203783 0.00052
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_024577.4(SH3TC2):c.*9969_*9972del rs113518050 0.00048
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522 0.00048
NM_006096.4(NDRG1):c.891+5G>A rs150968034 0.00044
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_181882.3(PRX):c.1397C>T (p.Pro466Leu) rs144530674 0.00042
NM_014845.6(FIG4):c.2459+5G>A rs367944508 0.00038
NM_181882.3(PRX):c.4265G>A (p.Arg1422Gln) rs142436702 0.00038
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 0.00036
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro) rs142609007 0.00033
NM_014845.6(FIG4):c.730C>T (p.Arg244Cys) rs138376077 0.00031
NM_016156.6(MTMR2):c.*1888del rs775823662 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_181882.3(PRX):c.2837C>T (p.Ala946Val) rs139700059 0.00026
NM_001370298.3(FGD4):c.*5484T>C rs577630567 0.00025
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro) rs550446238 0.00025
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_030962.4(SBF2):c.2938A>G (p.Ile980Val) rs148625171 0.00024
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_014845.6(FIG4):c.2460-8A>G rs201965891 0.00022
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00022
NM_006096.4(NDRG1):c.613G>A (p.Val205Met) rs138839833 0.00021
NM_181882.3(PRX):c.1510C>T (p.Leu504Phe) rs192607896 0.00021
NM_006096.4(NDRG1):c.63+6T>C rs199597649 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_181882.3(PRX):c.1987C>T (p.Pro663Ser) rs149183991 0.00020
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_030962.4(SBF2):c.3223C>T (p.Arg1075Cys) rs750021823 0.00019
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr) rs565094384 0.00019
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.4366G>C (p.Ala1456Pro) rs149093940 0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_014845.6(FIG4):c.328A>G (p.Ile110Val) rs140331779 0.00018
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr) rs532885622 0.00017
NM_181882.3(PRX):c.2278G>A (p.Val760Met) rs548905150 0.00017
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_001370298.3(FGD4):c.1759A>G (p.Met587Val) rs201186597 0.00016
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val) rs147438385 0.00016
NM_181882.3(PRX):c.641C>G (p.Pro214Arg) rs368874138 0.00016
NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly) rs141237776 0.00015
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_030962.4(SBF2):c.2050C>G (p.Leu684Val) rs146987383 0.00015
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His) rs181121989 0.00014
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=) rs750369546 0.00014
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys) rs201072058 0.00014
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys) rs147441856 0.00014
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_030962.4(SBF2):c.5010C>G (p.Asp1670Glu) rs142672124 0.00013
NM_181882.3(PRX):c.1387G>T (p.Val463Phe) rs764004836 0.00013
NM_181882.3(PRX):c.4151C>T (p.Ala1384Val) rs201618230 0.00013
NM_006096.4(NDRG1):c.280G>A (p.Val94Met) rs747475972 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu) rs201915829 0.00011
NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu) rs143251785 0.00011
NM_024577.4(SH3TC2):c.*12088_*12091del rs886060127 0.00011
NM_024577.4(SH3TC2):c.*19989G>A rs560779315 0.00011
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_181882.3(PRX):c.718C>T (p.Arg240Trp) rs199863083 0.00011
NM_001370298.3(FGD4):c.2029A>G (p.Ile677Val) rs1230547567 0.00010
NM_001370298.3(FGD4):c.2123C>A (p.Pro708His) rs145071617 0.00010
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) rs745520295 0.00010
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770 0.00010
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756 0.00010
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys) rs147895061 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) rs753921188 0.00010
NM_181882.3(PRX):c.16C>G (p.Arg6Gly) rs759056060 0.00010
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln) rs764162630 0.00010
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln) rs763294661 0.00010
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser) rs555510533 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_016156.6(MTMR2):c.263-3C>T rs553551578 0.00009
NM_024577.4(SH3TC2):c.*21395T>C rs886060094 0.00009
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200 0.00009
NM_030962.4(SBF2):c.1907C>A (p.Pro636His) rs544091616 0.00009
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val) rs368839717 0.00009
NM_181882.3(PRX):c.1091G>A (p.Arg364Gln) rs561482109 0.00009
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_181882.3(PRX):c.3346G>T (p.Val1116Leu) rs148075077 0.00009
NM_181882.3(PRX):c.3673G>A (p.Val1225Met) rs140880177 0.00009
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp) rs753339248 0.00009
NM_181882.3(PRX):c.4129C>T (p.Arg1377Cys) rs768524850 0.00009
NM_181882.3(PRX):c.862G>A (p.Val288Met) rs568618329 0.00009
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411 0.00008
NM_014845.6(FIG4):c.101C>T (p.Thr34Met) rs375691683 0.00008
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys) rs143184413 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_030962.4(SBF2):c.783G>T (p.Gln261His) rs759932929 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_181882.3(PRX):c.1646C>T (p.Pro549Leu) rs150582069 0.00008
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.553C>T (p.Arg185Cys) rs376863946 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys) rs142426003 0.00007
NM_006096.4(NDRG1):c.431A>G (p.Tyr144Cys) rs139220402 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile) rs146689226 0.00007
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter) rs753364428 0.00007
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe) rs587779385 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905 0.00007
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln) rs775059182 0.00007
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln) rs759084094 0.00007
NM_030962.4(SBF2):c.2014A>G (p.Thr672Ala) rs770839510 0.00007
NM_030962.4(SBF2):c.3410A>G (p.Tyr1137Cys) rs370742916 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.4257+6C>G rs370274486 0.00007
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro) rs776642521 0.00007
NM_181882.3(PRX):c.1040G>A (p.Arg347Gln) rs141288626 0.00007
NM_181882.3(PRX):c.2036G>A (p.Arg679Gln) rs145856805 0.00007
NM_181882.3(PRX):c.3037G>A (p.Asp1013Asn) rs548086012 0.00007
NM_181882.3(PRX):c.3385T>C (p.Ser1129Pro) rs139125398 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_001370298.3(FGD4):c.1078A>C (p.Asn360His) rs761788290 0.00006
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met) rs774466701 0.00006
NM_001370298.3(FGD4):c.808G>A (p.Asp270Asn) rs113416502 0.00006
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln) rs144980336 0.00006
NM_006096.4(NDRG1):c.205C>T (p.His69Tyr) rs373590447 0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) rs200328537 0.00006
NM_006096.4(NDRG1):c.704G>A (p.Arg235His) rs748331213 0.00006
NM_014845.6(FIG4):c.1187C>G (p.Ala396Gly) rs758599286 0.00006
NM_014845.6(FIG4):c.1544T>C (p.Ile515Thr) rs370249754 0.00006
NM_014845.6(FIG4):c.1880C>A (p.Thr627Lys) rs770831509 0.00006
NM_014845.6(FIG4):c.535C>T (p.Leu179Phe) rs141116831 0.00006
NM_014845.6(FIG4):c.923C>T (p.Ala308Val) rs180689715 0.00006
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His) rs142460913 0.00006
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp) rs778430688 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_024577.4(SH3TC2):c.*7269A>G rs763490898 0.00006
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser) rs757294130 0.00006
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys) rs752002618 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln) rs140666774 0.00006
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036 0.00006
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885 0.00006
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006 0.00006
NM_030962.4(SBF2):c.1894G>A (p.Ala632Thr) rs1386270581 0.00006
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys) rs146868794 0.00006
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226 0.00006
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala) rs766573319 0.00006
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp) rs143400291 0.00006
NM_181882.3(PRX):c.1402G>A (p.Val468Met) rs763489447 0.00006
NM_181882.3(PRX):c.1479G>C (p.Glu493Asp) rs367946424 0.00006
NM_181882.3(PRX):c.154C>A (p.Pro52Thr) rs1012350923 0.00006
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00006
NM_181882.3(PRX):c.1979C>T (p.Pro660Leu) rs748737580 0.00006
NM_181882.3(PRX):c.2056C>A (p.Pro686Thr) rs374232032 0.00006
NM_181882.3(PRX):c.2296G>A (p.Val766Met) rs763619423 0.00006
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg) rs542711361 0.00006
NM_181882.3(PRX):c.3832G>A (p.Asp1278Asn) rs377639106 0.00006
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg) rs769014032 0.00006
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.727G>A (p.Gly243Arg) rs774726424 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.992C>T (p.Pro331Leu) rs566629777 0.00006
NM_001113491.2(SEPTIN9):c.722-6624T>C rs746223748 0.00005
NM_001370298.3(FGD4):c.1409A>G (p.Gln470Arg) rs200149526 0.00005
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys) rs762687855 0.00005
NM_014845.6(FIG4):c.584A>T (p.Gln195Leu) rs749696803 0.00005
NM_014845.6(FIG4):c.829A>T (p.Ser277Cys) rs892208077 0.00005
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly) rs753316100 0.00005
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) rs879253940 0.00005
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe) rs764058215 0.00005
NM_030962.4(SBF2):c.2593C>A (p.Leu865Ile) rs371380984 0.00005
NM_030962.4(SBF2):c.2954A>T (p.Asp985Val) rs143883319 0.00005
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile) rs368392902 0.00005
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp) rs750938785 0.00005
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_181882.3(PRX):c.1837G>A (p.Val613Met) rs773222045 0.00005
NM_181882.3(PRX):c.2164A>G (p.Met722Val) rs376309142 0.00005
NM_181882.3(PRX):c.2468C>T (p.Ala823Val) rs780212559 0.00005
NM_181882.3(PRX):c.296C>G (p.Thr99Ser) rs561203828 0.00005
NM_181882.3(PRX):c.3238C>T (p.Arg1080Cys) rs200045096 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3422C>T (p.Ala1141Val) rs201233076 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_181882.3(PRX):c.4231C>T (p.Arg1411Cys) rs533966999 0.00005
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val) rs373051724 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_001370298.3(FGD4):c.2518G>A (p.Ala840Thr) rs145630882 0.00004
NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro) rs369365466 0.00004
NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro) rs989660324 0.00004
NM_006096.4(NDRG1):c.1082G>A (p.Arg361His) rs754767167 0.00004
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe) rs200046476 0.00004
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser) rs200433822 0.00004
NM_014845.6(FIG4):c.1091T>A (p.Met364Lys) rs772677048 0.00004
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu) rs769415369 0.00004
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg) rs201742496 0.00004
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys) rs749672655 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_014845.6(FIG4):c.2095C>T (p.Arg699Cys) rs764799053 0.00004
NM_014845.6(FIG4):c.2147G>A (p.Arg716His) rs758496638 0.00004
NM_014845.6(FIG4):c.2323C>T (p.Arg775Cys) rs745511182 0.00004
NM_014845.6(FIG4):c.266C>T (p.Ala89Val) rs763532414 0.00004
NM_014845.6(FIG4):c.2704A>G (p.Ile902Val) rs143685038 0.00004
NM_014845.6(FIG4):c.422G>A (p.Arg141Gln) rs762663195 0.00004
NM_014845.6(FIG4):c.446+4T>A rs956953729 0.00004
NM_014845.6(FIG4):c.446+5G>C rs370857139 0.00004
NM_014845.6(FIG4):c.794G>A (p.Arg265Gln) rs768713956 0.00004
NM_016156.6(MTMR2):c.262+4C>T rs760282236 0.00004
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe) rs755619139 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr) rs1293958398 0.00004
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His) rs199991156 0.00004
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys) rs142488510 0.00004
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325 0.00004
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.3675+5G>C rs1302647300 0.00004
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn) rs753142542 0.00004
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623 0.00004
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030962.4(SBF2):c.2164C>T (p.Arg722Cys) rs753111342 0.00004
NM_030962.4(SBF2):c.2183G>C (p.Ser728Thr) rs751653396 0.00004
NM_030962.4(SBF2):c.2883G>C (p.Gln961His) rs768147206 0.00004
NM_030962.4(SBF2):c.2891A>G (p.Gln964Arg) rs747309148 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 0.00004
NM_030962.4(SBF2):c.3169C>T (p.Arg1057Trp) rs536949808 0.00004
NM_030962.4(SBF2):c.3283A>G (p.Ser1095Gly) rs2942402 0.00004
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe) rs1442358051 0.00004
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442 0.00004
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met) rs752638300 0.00004
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val) rs922840746 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_181882.3(PRX):c.1103G>A (p.Arg368Gln) rs758888846 0.00004
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.1282G>A (p.Gly428Arg) rs151110565 0.00004
NM_181882.3(PRX):c.1391G>A (p.Arg464Gln) rs553211374 0.00004
NM_181882.3(PRX):c.1645C>T (p.Pro549Ser) rs1397900999 0.00004
NM_181882.3(PRX):c.1936G>A (p.Glu646Lys) rs750625856 0.00004
NM_181882.3(PRX):c.2243C>T (p.Pro748Leu) rs111252437 0.00004
NM_181882.3(PRX):c.2260C>T (p.Arg754Trp) rs372473354 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.2677G>A (p.Glu893Lys) rs201270794 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.2731G>A (p.Val911Met) rs377457671 0.00004
NM_181882.3(PRX):c.3352G>A (p.Val1118Ile) rs143654708 0.00004
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys) rs751742049 0.00004
NM_181882.3(PRX):c.3845C>T (p.Ser1282Leu) rs753530396 0.00004
NM_181882.3(PRX):c.3906C>A (p.His1302Gln) rs756103463 0.00004
NM_181882.3(PRX):c.4130G>A (p.Arg1377His) rs200835105 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_181882.3(PRX):c.4349C>T (p.Pro1450Leu) rs369949312 0.00004
NM_181882.3(PRX):c.466G>A (p.Val156Ile) rs562267802 0.00004
NM_181882.3(PRX):c.625G>A (p.Ala209Thr) rs769143653 0.00004
NM_181882.3(PRX):c.943C>T (p.Arg315Trp) rs763185527 0.00004
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00003
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg) rs199546503 0.00003
NM_001370298.3(FGD4):c.1975G>A (p.Ala659Thr) rs750531320 0.00003
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp) rs907657345 0.00003
NM_001370298.3(FGD4):c.2425C>G (p.Leu809Val) rs187012686 0.00003
NM_001370298.3(FGD4):c.2512A>G (p.Arg838Gly) rs756201273 0.00003
NM_001370298.3(FGD4):c.2644G>C (p.Gly882Arg) rs775920519 0.00003
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg) rs371407163 0.00003
NM_001370298.3(FGD4):c.469G>A (p.Val157Ile) rs755068251 0.00003
NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys) rs758603361 0.00003
NM_001370298.3(FGD4):c.953G>A (p.Arg318Lys) rs750143546 0.00003
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) rs530143616 0.00003
NM_006096.4(NDRG1):c.14T>C (p.Met5Thr) rs138555940 0.00003
NM_006096.4(NDRG1):c.167G>A (p.Arg56Gln) rs151322132 0.00003
NM_006096.4(NDRG1):c.307G>A (p.Ala103Thr) rs374160497 0.00003
NM_006096.4(NDRG1):c.345G>T (p.Met115Ile) rs1345503929 0.00003
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile) rs200593999 0.00003
NM_006096.4(NDRG1):c.42G>A (p.Lys14=) rs753261868 0.00003
NM_014845.6(FIG4):c.136C>T (p.Pro46Ser) rs1260601343 0.00003
NM_014845.6(FIG4):c.14C>T (p.Ala5Val) rs915749340 0.00003
NM_014845.6(FIG4):c.1990T>C (p.Phe664Leu) rs370602258 0.00003
NM_014845.6(FIG4):c.2035C>T (p.Arg679Trp) rs188910818 0.00003
NM_014845.6(FIG4):c.2146C>T (p.Arg716Cys) rs139235893 0.00003
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn) rs377017892 0.00003
NM_014845.6(FIG4):c.2376+5G>A rs528952794 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014845.6(FIG4):c.382G>A (p.Glu128Lys) rs769125243 0.00003
NM_014845.6(FIG4):c.421C>T (p.Arg141Trp) rs750102036 0.00003
NM_014845.6(FIG4):c.815T>C (p.Ile272Thr) rs765737780 0.00003
NM_014845.6(FIG4):c.872G>A (p.Cys291Tyr) rs766829595 0.00003
NM_014845.6(FIG4):c.919G>A (p.Asp307Asn) rs573441014 0.00003
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874 0.00003
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly) rs145714734 0.00003
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=) rs139369561 0.00003
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr) rs769280444 0.00003
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp) rs369804894 0.00003
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys) rs528638298 0.00003
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu) rs377327553 0.00003
NM_024577.4(SH3TC2):c.*1942del rs886060183 0.00003
NM_024577.4(SH3TC2):c.*3411C>T rs886060178 0.00003
NM_024577.4(SH3TC2):c.*932T>A rs886060186 0.00003
NM_024577.4(SH3TC2):c.*9980_*9981insTATT rs1554119372 0.00003
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His) rs587781252 0.00003
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142 0.00003
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595 0.00003
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg) rs912282924 0.00003
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp) rs769679412 0.00003
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291 0.00003
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His) rs778572329 0.00003
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg) rs1490002752 0.00003
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.2350A>G (p.Ile784Val) rs758912920 0.00003
NM_030962.4(SBF2):c.2450G>A (p.Arg817Gln) rs369653070 0.00003
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met) rs746363004 0.00003
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys) rs745669920 0.00003
NM_030962.4(SBF2):c.2611-18A>G rs374144072 0.00003
NM_030962.4(SBF2):c.2789C>T (p.Thr930Ile) rs755578344 0.00003
NM_030962.4(SBF2):c.2807-3C>T rs375252298 0.00003
NM_030962.4(SBF2):c.3170G>A (p.Arg1057Gln) rs138612196 0.00003
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu) rs747669195 0.00003
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425 0.00003
NM_030962.4(SBF2):c.4970C>T (p.Pro1657Leu) rs771021009 0.00003
NM_030962.4(SBF2):c.566A>G (p.His189Arg) rs764000654 0.00003
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr) rs746749228 0.00003
NM_030962.4(SBF2):c.898A>G (p.Ile300Val) rs141669540 0.00003
NM_181882.3(PRX):c.1144C>G (p.Pro382Ala) rs759440986 0.00003
NM_181882.3(PRX):c.1211G>A (p.Arg404Gln) rs146948818 0.00003
NM_181882.3(PRX):c.1219G>T (p.Ala407Ser) rs752941494 0.00003
NM_181882.3(PRX):c.1460C>T (p.Pro487Leu) rs778936443 0.00003
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp) rs759029769 0.00003
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu) rs530370432 0.00003
NM_181882.3(PRX):c.2285A>G (p.Lys762Arg) rs202165534 0.00003
NM_181882.3(PRX):c.2573A>G (p.Glu858Gly) rs1017754371 0.00003
NM_181882.3(PRX):c.2790G>C (p.Lys930Asn) rs758614032 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.3041T>C (p.Leu1014Pro) rs766119564 0.00003
NM_181882.3(PRX):c.3508G>A (p.Ala1170Thr) rs759410504 0.00003
NM_181882.3(PRX):c.3587G>C (p.Gly1196Ala) rs199640290 0.00003
NM_181882.3(PRX):c.3707C>T (p.Ala1236Val) rs142501082 0.00003
NM_181882.3(PRX):c.3853G>A (p.Gly1285Arg) rs374370759 0.00003
NM_181882.3(PRX):c.3866C>A (p.Ala1289Asp) rs752531823 0.00003
NM_181882.3(PRX):c.4121T>G (p.Val1374Gly) rs773512610 0.00003
NM_181882.3(PRX):c.4124G>A (p.Arg1375Gln) rs762053224 0.00003
NM_181882.3(PRX):c.4157C>A (p.Pro1386His) rs372582520 0.00003
NM_181882.3(PRX):c.4270G>C (p.Gly1424Arg) rs754032938 0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met) rs138437458 0.00003
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile) rs746338096 0.00003
NM_181882.3(PRX):c.559C>T (p.Arg187Cys) rs768929130 0.00003
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_181882.3(PRX):c.793G>A (p.Gly265Ser) rs1298913150 0.00003
NM_181882.3(PRX):c.80C>A (p.Thr27Asn) rs1291881750 0.00003
NM_181882.3(PRX):c.847G>A (p.Val283Met) rs535087433 0.00003
NM_181882.3(PRX):c.899T>C (p.Leu300Ser) rs748380935 0.00003
NM_001370298.3(FGD4):c.1248-3C>A rs755168497 0.00002
NM_001370298.3(FGD4):c.1339A>G (p.Met447Val) rs368451193 0.00002
NM_001370298.3(FGD4):c.1463G>A (p.Arg488Gln) rs138762438 0.00002
NM_001370298.3(FGD4):c.1536T>G (p.Asp512Glu) rs778471949 0.00002
NM_001370298.3(FGD4):c.1612A>C (p.Lys538Gln) rs749692745 0.00002
NM_001370298.3(FGD4):c.1657A>G (p.Ile553Val) rs1060501903 0.00002
NM_001370298.3(FGD4):c.2171A>G (p.Tyr724Cys) rs759496422 0.00002
NM_001370298.3(FGD4):c.2429T>C (p.Val810Ala) rs776258252 0.00002
NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly) rs1161650860 0.00002
NM_006096.4(NDRG1):c.100-3C>T rs775475505 0.00002
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys) rs777244818 0.00002
NM_006096.4(NDRG1):c.1081C>T (p.Arg361Cys) rs779065972 0.00002
NM_006096.4(NDRG1):c.1133C>T (p.Ser378Leu) rs373815729 0.00002
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg) rs768918074 0.00002
NM_006096.4(NDRG1):c.141G>A (p.Thr47=) rs750933446 0.00002
NM_006096.4(NDRG1):c.427G>A (p.Ala143Thr) rs776830575 0.00002
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) rs781381539 0.00002
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) rs138285479 0.00002
NM_006096.4(NDRG1):c.635G>A (p.Arg212His) rs931069567 0.00002
NM_006096.4(NDRG1):c.703C>T (p.Arg235Cys) rs772268356 0.00002
NM_006096.4(NDRG1):c.731C>T (p.Pro244Leu) rs748984505 0.00002
NM_006096.4(NDRG1):c.904G>A (p.Ala302Thr) rs373637595 0.00002
NM_014845.6(FIG4):c.107A>G (p.Tyr36Cys) rs760770423 0.00002
NM_014845.6(FIG4):c.1313A>G (p.Glu438Gly) rs535554973 0.00002
NM_014845.6(FIG4):c.1376G>A (p.Arg459Gln) rs141309562 0.00002
NM_014845.6(FIG4):c.1427G>A (p.Arg476His) rs192823053 0.00002
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213 0.00002
NM_014845.6(FIG4):c.1728A>G (p.Arg576=) rs1006163300 0.00002
NM_014845.6(FIG4):c.1769C>T (p.Ser590Phe) rs773166475 0.00002
NM_014845.6(FIG4):c.2113A>G (p.Thr705Ala) rs766031746 0.00002
NM_014845.6(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982 0.00002
NM_014845.6(FIG4):c.2449A>G (p.Ile817Val) rs781056036 0.00002
NM_014845.6(FIG4):c.2599A>G (p.Arg867Gly) rs533419433 0.00002
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014845.6(FIG4):c.2705T>C (p.Ile902Thr) rs1162967341 0.00002
NM_014845.6(FIG4):c.321T>G (p.Ile107Met) rs372854425 0.00002
NM_014845.6(FIG4):c.469G>A (p.Val157Met) rs1455052760 0.00002
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro) rs587777713 0.00002
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327 0.00002
NM_014845.6(FIG4):c.731G>A (p.Arg244His) rs768175169 0.00002
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile) rs762123072 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_014845.6(FIG4):c.974G>C (p.Arg325Thr) rs1060501400 0.00002
NM_016156.6(MTMR2):c.*2357T>C rs886048762 0.00002
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn) rs747178197 0.00002
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr) rs771823531 0.00002
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met) rs776520645 0.00002
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro) rs372095826 0.00002
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val) rs886048771 0.00002
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala) rs1271455669 0.00002
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup) rs748069614 0.00002
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys) rs756912172 0.00002
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr) rs752402777 0.00002
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) rs759086106 0.00002
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile) rs951220118 0.00002
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln) rs756723587 0.00002
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp) rs753939570 0.00002
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val) rs887196115 0.00002
NM_024577.4(SH3TC2):c.*5747C>T rs886060166 0.00002
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr) rs1189763508 0.00002
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp) rs753775570 0.00002
NM_024577.4(SH3TC2):c.1178-3C>T rs1380474010 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr) rs764054256 0.00002
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val) rs543440112 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met) rs577783066 0.00002
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu) rs747615941 0.00002
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_024577.4(SH3TC2):c.2873-3C>T rs749316605 0.00002
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala) rs192187328 0.00002
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val) rs369953562 0.00002
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys) rs756108498 0.00002
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp) rs1371951870 0.00002
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00002
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser) rs778351829 0.00002
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val) rs372797350 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg) rs1163101801 0.00002
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val) rs141712019 0.00002
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe) rs755754277 0.00002
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val) rs746615255 0.00002
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile) rs1372841015 0.00002
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr) rs371432409 0.00002
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.2078A>G (p.His693Arg) rs1269738427 0.00002
NM_030962.4(SBF2):c.2122T>C (p.Tyr708His) rs368259453 0.00002
NM_030962.4(SBF2):c.2449C>T (p.Arg817Trp) rs747325449 0.00002
NM_030962.4(SBF2):c.2597C>T (p.Pro866Leu) rs143887793 0.00002
NM_030962.4(SBF2):c.2602A>G (p.Ile868Val) rs750641739 0.00002
NM_030962.4(SBF2):c.2828G>A (p.Arg943Gln) rs753298285 0.00002
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys) rs770723203 0.00002
NM_030962.4(SBF2):c.3230G>C (p.Gly1077Ala) rs775746690 0.00002
NM_030962.4(SBF2):c.3313A>G (p.Thr1105Ala) rs1217278816 0.00002
NM_030962.4(SBF2):c.3353A>T (p.Tyr1118Phe) rs1206899890 0.00002
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser) rs1310790545 0.00002
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His) rs751750978 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn) rs774935915 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_030962.4(SBF2):c.4588A>G (p.Lys1530Glu) rs746575779 0.00002
NM_030962.4(SBF2):c.4852C>T (p.Arg1618Trp) rs200696363 0.00002
NM_030962.4(SBF2):c.4853G>A (p.Arg1618Gln) rs770439158 0.00002
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=) rs757095964 0.00002
NM_030962.4(SBF2):c.4960A>C (p.Asn1654His) rs927212697 0.00002
NM_030962.4(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510 0.00002
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) rs755264093 0.00002
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His) rs369992460 0.00002
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val) rs1048725630 0.00002
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu) rs746246566 0.00002
NM_181882.3(PRX):c.1166C>G (p.Pro389Arg) rs377089486 0.00002
NM_181882.3(PRX):c.1465G>A (p.Val489Met) rs753734869 0.00002
NM_181882.3(PRX):c.1472T>C (p.Leu491Pro) rs1235376433 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.161C>T (p.Ala54Val) rs774974168 0.00002
NM_181882.3(PRX):c.16C>T (p.Arg6Trp) rs759056060 0.00002
NM_181882.3(PRX):c.1906C>T (p.Leu636Phe) rs756785716 0.00002
NM_181882.3(PRX):c.2098G>A (p.Ala700Thr) rs1160407003 0.00002
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu) rs371887816 0.00002
NM_181882.3(PRX):c.2385G>A (p.Met795Ile) rs929097201 0.00002
NM_181882.3(PRX):c.2395T>C (p.Phe799Leu) rs372370577 0.00002
NM_181882.3(PRX):c.2534C>T (p.Ala845Val) rs750952608 0.00002
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924 0.00002
NM_181882.3(PRX):c.2807T>C (p.Phe936Ser) rs765270572 0.00002
NM_181882.3(PRX):c.2892C>G (p.Ile964Met) rs758668778 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.3646G>A (p.Val1216Met) rs774413102 0.00002
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln) rs778017594 0.00002
NM_181882.3(PRX):c.3698C>T (p.Ala1233Val) rs767851512 0.00002
NM_181882.3(PRX):c.3919C>T (p.Arg1307Trp) rs752593001 0.00002
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) rs559968504 0.00002
NM_181882.3(PRX):c.4057G>A (p.Glu1353Lys) rs150914430 0.00002
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp) rs766729202 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.4290G>C (p.Glu1430Asp) rs1347473458 0.00002
NM_181882.3(PRX):c.457C>T (p.Pro153Ser) rs760295364 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_181882.3(PRX):c.634C>A (p.Pro212Thr) rs771156102 0.00002
NM_181882.3(PRX):c.668T>C (p.Val223Ala) rs1054277008 0.00002
NM_181882.3(PRX):c.826G>A (p.Gly276Arg) rs768077877 0.00002
NM_181882.3(PRX):c.833C>T (p.Pro278Leu) rs886054440 0.00002
NM_181882.3(PRX):c.902C>A (p.Pro301His) rs1186753867 0.00002
NM_001370298.3(FGD4):c.*5177G>A rs777896036 0.00001
NM_001370298.3(FGD4):c.1098T>G (p.Asp366Glu) rs765738675 0.00001
NM_001370298.3(FGD4):c.1136G>A (p.Arg379Gln) rs372866502 0.00001
NM_001370298.3(FGD4):c.1235G>A (p.Arg412Gln) rs756169087 0.00001
NM_001370298.3(FGD4):c.1276C>T (p.Leu426Phe) rs1204289708 0.00001
NM_001370298.3(FGD4):c.1348G>A (p.Val450Ile) rs768392772 0.00001
NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys) rs1131691854 0.00001
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_001370298.3(FGD4):c.1472G>A (p.Arg491Gln) rs1415031307 0.00001
NM_001370298.3(FGD4):c.1502G>C (p.Arg501Thr) rs755934741 0.00001
NM_001370298.3(FGD4):c.1603-9A>G rs1555217855 0.00001
NM_001370298.3(FGD4):c.1603G>A (p.Glu535Lys) rs756885149 0.00001
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val) rs750265200 0.00001
NM_001370298.3(FGD4):c.1749+3G>A rs542398408 0.00001
NM_001370298.3(FGD4):c.1846G>A (p.Val616Ile) rs1949690181 0.00001
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu) rs1217036684 0.00001
NM_001370298.3(FGD4):c.1963G>A (p.Glu655Lys) rs769604865 0.00001
NM_001370298.3(FGD4):c.1972G>A (p.Asp658Asn) rs774787616 0.00001
NM_001370298.3(FGD4):c.2263A>G (p.Ile755Val) rs764635514 0.00001
NM_001370298.3(FGD4):c.2402G>C (p.Cys801Ser) rs749404822 0.00001
NM_001370298.3(FGD4):c.2523C>A (p.Asp841Glu) rs751777807 0.00001
NM_001370298.3(FGD4):c.2597A>G (p.Gln866Arg) rs777302433 0.00001
NM_001370298.3(FGD4):c.2608A>G (p.Lys870Glu) rs746459196 0.00001
NM_001370298.3(FGD4):c.2610A>C (p.Lys870Asn) rs770729087 0.00001
NM_001370298.3(FGD4):c.2645G>T (p.Gly882Val) rs1951104872 0.00001
NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr) rs374980260 0.00001
NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly) rs1223446306 0.00001
NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile) rs1390487641 0.00001
NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser) rs1555209302 0.00001
NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu) rs747690428 0.00001
NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu) rs61754560 0.00001
NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr) rs201660852 0.00001
NM_001370298.3(FGD4):c.708G>T (p.Gln236His) rs936490141 0.00001
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys) rs752621629 0.00001
NM_001370298.3(FGD4):c.789C>G (p.His263Gln) rs757469397 0.00001
NM_001370298.3(FGD4):c.790A>G (p.Ile264Val) rs768685900 0.00001
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly) rs759415605 0.00001
NM_001370298.3(FGD4):c.848G>T (p.Ser283Ile) rs1208033042 0.00001
NM_001370298.3(FGD4):c.871A>G (p.Ser291Gly) rs1242400732 0.00001
NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys) rs148406003 0.00001
NM_001370298.3(FGD4):c.984G>T (p.Glu328Asp) rs1487363420 0.00001
NM_006096.4(NDRG1):c.1022G>A (p.Arg341His) rs1392179290 0.00001
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His) rs144714216 0.00001
NM_006096.4(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006096.4(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151 0.00001
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058 0.00001
NM_006096.4(NDRG1):c.1091C>T (p.Ser364Leu) rs767058269 0.00001
NM_006096.4(NDRG1):c.112G>A (p.Glu38Lys) rs1399039574 0.00001
NM_006096.4(NDRG1):c.1136G>A (p.Gly379Asp) rs1417950013 0.00001
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714 0.00001
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met) rs756570592 0.00001
NM_006096.4(NDRG1):c.166C>T (p.Arg56Trp) rs769720211 0.00001
NM_006096.4(NDRG1):c.175A>C (p.Ile59Leu) rs1404219858 0.00001
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser) rs780329667 0.00001
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile) rs1240902905 0.00001
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His) rs368584363 0.00001
NM_006096.4(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957 0.00001
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) rs144310406 0.00001
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser) rs750194735 0.00001
NM_006096.4(NDRG1):c.38T>C (p.Val13Ala) rs551852206 0.00001
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val) rs762263620 0.00001
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr) rs748782766 0.00001
NM_006096.4(NDRG1):c.537+6G>A rs556570301 0.00001
NM_006096.4(NDRG1):c.559C>G (p.Leu187Val) rs746650111 0.00001
NM_006096.4(NDRG1):c.563C>T (p.Pro188Leu) rs779194865 0.00001
NM_006096.4(NDRG1):c.571G>A (p.Val191Met) rs749716207 0.00001
NM_006096.4(NDRG1):c.574G>A (p.Val192Met) rs1256911364 0.00001
NM_006096.4(NDRG1):c.582C>G (p.His194Gln) rs1305919985 0.00001
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) rs1295024326 0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys) rs1213776109 0.00001
NM_006096.4(NDRG1):c.640C>T (p.His214Tyr) rs1855954315 0.00001
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val) rs1390282778 0.00001
NM_006096.4(NDRG1):c.64A>G (p.Thr22Ala) rs755696955 0.00001
NM_006096.4(NDRG1):c.656T>A (p.Met219Lys) rs147184316 0.00001
NM_006096.4(NDRG1):c.699-3C>T rs931942837 0.00001
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln) rs755968590 0.00001
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn) rs1337832950 0.00001
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln) rs1463129303 0.00001
NM_006096.4(NDRG1):c.727A>G (p.Met243Val) rs767505621 0.00001
NM_006096.4(NDRG1):c.73G>C (p.Gly25Arg) rs377527660 0.00001
NM_006096.4(NDRG1):c.743C>T (p.Thr248Ile) rs750372432 0.00001
NM_006096.4(NDRG1):c.766C>T (p.Leu256=) rs898573925 0.00001
NM_006096.4(NDRG1):c.788C>T (p.Ser263Leu) rs770044182 0.00001
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp) rs537161398 0.00001
NM_006096.4(NDRG1):c.805G>A (p.Val269Met) rs750779893 0.00001
NM_006096.4(NDRG1):c.855+14_855+15del rs780070007 0.00001
NM_006096.4(NDRG1):c.860C>T (p.Ala287Val) rs761760894 0.00001
NM_006096.4(NDRG1):c.893C>T (p.Pro298Leu) rs753836263 0.00001
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg) rs1337997229 0.00001
NM_006096.4(NDRG1):c.925G>A (p.Val309Met) rs1855413937 0.00001
NM_006096.4(NDRG1):c.947C>G (p.Pro316Arg) rs1033985666 0.00001
NM_006096.4(NDRG1):c.950C>T (p.Ser317Leu) rs904186690 0.00001
NM_014845.6(FIG4):c.1039+3G>A rs760007124 0.00001
NM_014845.6(FIG4):c.1051G>C (p.Asp351His) rs879253941 0.00001
NM_014845.6(FIG4):c.1064A>G (p.His355Arg) rs772356514 0.00001
NM_014845.6(FIG4):c.110G>A (p.Arg37His) rs192324110 0.00001
NM_014845.6(FIG4):c.1137+5G>T rs746766125 0.00001
NM_014845.6(FIG4):c.1165A>G (p.Ile389Val) rs765216035 0.00001
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser) rs373630745 0.00001
NM_014845.6(FIG4):c.121A>G (p.Ile41Val) rs1775389277 0.00001
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala) rs142463699 0.00001
NM_014845.6(FIG4):c.125A>G (p.Asp42Gly) rs780739049 0.00001
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp) rs1255518113 0.00001
NM_014845.6(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172 0.00001
NM_014845.6(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669 0.00001
NM_014845.6(FIG4):c.1432C>G (p.Gln478Glu) rs1331703765 0.00001
NM_014845.6(FIG4):c.1434G>A (p.Gln478=) rs1430381590 0.00001
NM_014845.6(FIG4):c.1490A>T (p.Gln497Leu) rs748473120 0.00001
NM_014845.6(FIG4):c.1555A>G (p.Asn519Asp) rs374129146 0.00001
NM_014845.6(FIG4):c.155T>C (p.Ile52Thr) rs754533235 0.00001
NM_014845.6(FIG4):c.1750+3A>G rs758390500 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.180A>G (p.Gln60=) rs376730932 0.00001
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala) rs758695444 0.00001
NM_014845.6(FIG4):c.1838A>G (p.Asp613Gly) rs1243225247 0.00001
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn) rs774499394 0.00001
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser) rs745860370 0.00001
NM_014845.6(FIG4):c.2036G>A (p.Arg679Gln) rs192447225 0.00001
NM_014845.6(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573 0.00001
NM_014845.6(FIG4):c.2069T>C (p.Phe690Ser) rs1237449502 0.00001
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile) rs754830354 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2240C>T (p.Pro747Leu) rs1266127215 0.00001
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp) rs375960403 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.2308G>A (p.Gly770Ser) rs779329699 0.00001
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg) rs373590484 0.00001
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser) rs375414729 0.00001
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg) rs774546266 0.00001
NM_014845.6(FIG4):c.2464G>C (p.Val822Leu) rs1208125100 0.00001
NM_014845.6(FIG4):c.2469G>T (p.Gln823His) rs768773104 0.00001
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu) rs768384237 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_014845.6(FIG4):c.2558C>T (p.Ser853Leu) rs774805375 0.00001
NM_014845.6(FIG4):c.2617A>C (p.Thr873Pro) rs199765196 0.00001
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val) rs550030053 0.00001
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr) rs780643086 0.00001
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys) rs776236607 0.00001
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter) rs750069994 0.00001
NM_014845.6(FIG4):c.2713C>T (p.Arg905Cys) rs754970037 0.00001
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly) rs771093157 0.00001
NM_014845.6(FIG4):c.374A>G (p.Tyr125Cys) rs145466148 0.00001
NM_014845.6(FIG4):c.396G>A (p.Met132Ile) rs1775847696 0.00001
NM_014845.6(FIG4):c.521C>T (p.Ser174Leu) rs775391378 0.00001
NM_014845.6(FIG4):c.52T>C (p.Tyr18His) rs1774396046 0.00001
NM_014845.6(FIG4):c.548G>A (p.Arg183Gln) rs781588508 0.00001
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys) rs370115339 0.00001
NM_014845.6(FIG4):c.589C>T (p.Arg197Cys) rs770528195 0.00001
NM_014845.6(FIG4):c.641G>A (p.Gly214Glu) rs1776128339 0.00001
NM_014845.6(FIG4):c.685G>A (p.Val229Ile) rs779593250 0.00001
NM_014845.6(FIG4):c.764G>A (p.Cys255Tyr) rs1776227536 0.00001
NM_014845.6(FIG4):c.776A>C (p.Lys259Thr) rs1045259801 0.00001
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys) rs370148297 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe) rs1311885951 0.00001
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln) rs768976966 0.00001
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val) rs925169921 0.00001
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr) rs114883605 0.00001
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His) rs1360581554 0.00001
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln) rs1383802560 0.00001
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln) rs1590978311 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr) rs752626893 0.00001
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser) rs1221811087 0.00001
NM_016156.6(MTMR2):c.1594-9T>G rs774704606 0.00001
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val) rs781368440 0.00001
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu) rs750110066 0.00001
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=) rs778532655 0.00001
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter) rs923973985 0.00001
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile) rs1555056657 0.00001
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly) rs756405288 0.00001
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr) rs757664332 0.00001
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val) rs147341114 0.00001
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile) rs1340382592 0.00001
NM_016156.6(MTMR2):c.309A>T (p.Gly103=) rs114274243 0.00001
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys) rs1322357085 0.00001
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr) rs1867035083 0.00001
NM_016156.6(MTMR2):c.357+4A>C rs863224750 0.00001
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser) rs1864437012 0.00001
NM_016156.6(MTMR2):c.460G>A (p.Val154Met) rs1464362553 0.00001
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr) rs1286568485 0.00001
NM_016156.6(MTMR2):c.494A>C (p.His165Pro) rs1360315392 0.00001
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp) rs1177699275 0.00001
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu) rs1258314907 0.00001
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys) rs967619161 0.00001
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe) rs1295900396 0.00001
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys) rs1590984978 0.00001
NM_016156.6(MTMR2):c.797G>A (p.Arg266His) rs775237206 0.00001
NM_016156.6(MTMR2):c.805-9C>G rs767328220 0.00001
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg) rs779257949 0.00001
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln) rs374629187 0.00001
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln) rs777854770 0.00001
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe) rs748872681 0.00001
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln) rs1191951496 0.00001
NM_024577.4(SH3TC2):c.*12469T>A rs886060122 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly) rs781032352 0.00001
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln) rs1450931349 0.00001
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr) rs763564639 0.00001
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549 0.00001
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile) rs761907624 0.00001
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg) rs766814812 0.00001
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe) rs754865697 0.00001
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His) rs755748579 0.00001
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu) rs1234203055 0.00001
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791 0.00001
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp) rs1326032447 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys) rs751644174 0.00001
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys) rs763417948 0.00001
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala) rs372841815 0.00001
NM_024577.4(SH3TC2):c.152-8T>A rs1350673664 0.00001
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp) rs777043032 0.00001
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr) rs1324539774 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val) rs760899669 0.00001
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn) rs1436597179 0.00001
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg) rs1252838387 0.00001
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838 0.00001
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala) rs779061678 0.00001
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578 0.00001
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr) rs781671812 0.00001
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys) rs763952745 0.00001
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr) rs1329516289 0.00001
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu) rs770170997 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs779075488 0.00001
NM_024577.4(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu) rs897500539 0.00001
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192 0.00001
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg) rs926165676 0.00001
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln) rs756666549 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe) rs754938951 0.00001
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575 0.00001
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601 0.00001
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg) rs768389060 0.00001
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys) rs202139757 0.00001
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val) rs1232735360 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe) rs1220087441 0.00001
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg) rs978452363 0.00001
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104 0.00001
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala) rs777209545 0.00001
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509 0.00001
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe) rs772753479 0.00001
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498 0.00001
NM_024577.4(SH3TC2):c.3204+6C>T rs763394102 0.00001
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val) rs1753764548 0.00001
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg) rs750149369 0.00001
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393 0.00001
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp) rs1228973233 0.00001
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg) rs780363659 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala) rs757935041 0.00001
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly) rs1169028062 0.00001
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val) rs913598475 0.00001
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp) rs777028943 0.00001
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr) rs1371380897 0.00001
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val) rs778953792 0.00001
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly) rs765921861 0.00001
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys) rs1229941957 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr) rs1483097983 0.00001
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe) rs542260900 0.00001
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg) rs1754392249 0.00001
NM_024577.4(SH3TC2):c.53-3C>T rs771541595 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg) rs778863028 0.00001
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg) rs569256459 0.00001
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316 0.00001
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr) rs1472681520 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys) rs867509336 0.00001
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=) rs781321213 0.00001
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868 0.00001
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg) rs1210345750 0.00001
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val) rs772820273 0.00001
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu) rs755164059 0.00001
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His) rs746737375 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys) rs748663288 0.00001
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403 0.00001
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val) rs745345448 0.00001
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu) rs753884201 0.00001
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val) rs753423455 0.00001
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln) rs954771068 0.00001
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile) rs1947549366 0.00001
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala) rs761829741 0.00001
NM_030962.4(SBF2):c.1083A>G (p.Arg361=) rs1362168505 0.00001
NM_030962.4(SBF2):c.109G>C (p.Asp37His) rs759977048 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1158T>G (p.His386Gln) rs780071398 0.00001
NM_030962.4(SBF2):c.1163A>G (p.His388Arg) rs1397329019 0.00001
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser) rs1194397200 0.00001
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe) rs1220835376 0.00001
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459 0.00001
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr) rs759009170 0.00001
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val) rs754505342 0.00001
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser) rs762615474 0.00001
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu) rs1441833591 0.00001
NM_030962.4(SBF2):c.141+5G>A rs1284700305 0.00001
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln) rs538390886 0.00001
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala) rs745328047 0.00001
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508 0.00001
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala) rs756897983 0.00001
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu) rs542028180 0.00001
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr) rs1278738726 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser) rs1043801815 0.00001
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala) rs779355592 0.00001
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) rs775198025 0.00001
NM_030962.4(SBF2):c.1902A>T (p.Leu634Phe) rs1861220165 0.00001
NM_030962.4(SBF2):c.1964C>T (p.Thr655Met) rs777190196 0.00001
NM_030962.4(SBF2):c.2024A>G (p.Asn675Ser) rs375407366 0.00001
NM_030962.4(SBF2):c.2101G>A (p.Asp701Asn) rs746473762 0.00001
NM_030962.4(SBF2):c.2113G>A (p.Asp705Asn) rs1388585918 0.00001
NM_030962.4(SBF2):c.2155G>A (p.Glu719Lys) rs149162783 0.00001
NM_030962.4(SBF2):c.2165G>A (p.Arg722His) rs768079951 0.00001
NM_030962.4(SBF2):c.2254A>G (p.Asn752Asp) rs775455068 0.00001
NM_030962.4(SBF2):c.2284G>A (p.Asp762Asn) rs929805760 0.00001
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln) rs747102118 0.00001
NM_030962.4(SBF2):c.2318C>T (p.Ala773Val) rs750527598 0.00001
NM_030962.4(SBF2):c.2338G>A (p.Gly780Arg) rs775404093 0.00001
NM_030962.4(SBF2):c.2388C>G (p.Ser796Arg) rs1857121600 0.00001
NM_030962.4(SBF2):c.2431A>G (p.Ile811Val) rs764765082 0.00001
NM_030962.4(SBF2):c.2447T>C (p.Val816Ala) rs982821887 0.00001
NM_030962.4(SBF2):c.2492G>A (p.Gly831Glu) rs770201190 0.00001
NM_030962.4(SBF2):c.2516G>C (p.Ser839Thr) rs1060500002 0.00001
NM_030962.4(SBF2):c.2546C>T (p.Ala849Val) rs751319241 0.00001
NM_030962.4(SBF2):c.2579G>A (p.Arg860Gln) rs1210393129 0.00001
NM_030962.4(SBF2):c.2662G>A (p.Gly888Ser) rs369589966 0.00001
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) rs755699993 0.00001
NM_030962.4(SBF2):c.2681A>G (p.Asp894Gly) rs552340604 0.00001
NM_030962.4(SBF2):c.2704A>G (p.Thr902Ala) rs376463609 0.00001
NM_030962.4(SBF2):c.2716C>A (p.Leu906Ile) rs760903950 0.00001
NM_030962.4(SBF2):c.2776C>A (p.Leu926Ile) rs1193714532 0.00001
NM_030962.4(SBF2):c.2804T>C (p.Leu935Ser) rs751248866 0.00001
NM_030962.4(SBF2):c.2819C>T (p.Thr940Ile) rs756720332 0.00001
NM_030962.4(SBF2):c.2872A>G (p.Met958Val) rs901770002 0.00001
NM_030962.4(SBF2):c.2882A>G (p.Gln961Arg) rs776603587 0.00001
NM_030962.4(SBF2):c.2935-3T>A rs202116086 0.00001
NM_030962.4(SBF2):c.2963T>G (p.Val988Gly) rs778766567 0.00001
NM_030962.4(SBF2):c.3011G>A (p.Arg1004His) rs1157037356 0.00001
NM_030962.4(SBF2):c.3040G>A (p.Ala1014Thr) rs1404127728 0.00001
NM_030962.4(SBF2):c.3082A>G (p.Lys1028Glu) rs929108873 0.00001
NM_030962.4(SBF2):c.3086A>G (p.Gln1029Arg) rs1297679145 0.00001
NM_030962.4(SBF2):c.3110+5G>T rs898995159 0.00001
NM_030962.4(SBF2):c.3155A>G (p.Lys1052Arg) rs556594133 0.00001
NM_030962.4(SBF2):c.3203T>G (p.Ile1068Ser) rs765970008 0.00001
NM_030962.4(SBF2):c.3277C>T (p.Pro1093Ser) rs953467120 0.00001
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu) rs762973514 0.00001
NM_030962.4(SBF2):c.3304G>A (p.Glu1102Lys) rs778262784 0.00001
NM_030962.4(SBF2):c.3316A>G (p.Met1106Val) rs753427715 0.00001
NM_030962.4(SBF2):c.3436A>T (p.Met1146Leu) rs377277274 0.00001
NM_030962.4(SBF2):c.3445C>T (p.Leu1149Phe) rs766709811 0.00001
NM_030962.4(SBF2):c.3451C>T (p.Arg1151Trp) rs140550985 0.00001
NM_030962.4(SBF2):c.3452G>A (p.Arg1151Gln) rs750893713 0.00001
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523 0.00001
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly) rs767514383 0.00001
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys) rs779290368 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln) rs185264589 0.00001
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly) rs769777008 0.00001
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu) rs749729139 0.00001
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr) rs763594624 0.00001
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala) rs753811515 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly) rs368618956 0.00001
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr) rs1261598853 0.00001
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr) rs1443759629 0.00001
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala) rs757063919 0.00001
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys) rs775982886 0.00001
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) rs765001700 0.00001
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr) rs760386811 0.00001
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys) rs956737183 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746 0.00001
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu) rs369288449 0.00001
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr) rs527347035 0.00001
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn) rs144063037 0.00001
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr) rs753564262 0.00001
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val) rs746286799 0.00001
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu) rs1217139040 0.00001
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr) rs1564876099 0.00001
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala) rs1949191748 0.00001
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val) rs771436343 0.00001
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu) rs142029000 0.00001
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile) rs751799091 0.00001
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His) rs1590132478 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.4258-4C>G rs757097139 0.00001
NM_030962.4(SBF2):c.427G>A (p.Val143Met) rs142469360 0.00001
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser) rs1312716983 0.00001
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn) rs1343934459 0.00001
NM_030962.4(SBF2):c.4443+6T>C rs1450773584 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser) rs1337725457 0.00001
NM_030962.4(SBF2):c.4640G>A (p.Arg1547Lys) rs200338241 0.00001
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105 0.00001
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys) rs745535685 0.00001
NM_030962.4(SBF2):c.4808A>G (p.His1603Arg) rs757498268 0.00001
NM_030962.4(SBF2):c.4932+5G>A rs764275849 0.00001
NM_030962.4(SBF2):c.5005G>A (p.Val1669Met) rs757185849 0.00001
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259 0.00001
NM_030962.4(SBF2):c.5137G>C (p.Glu1713Gln) rs1852290948 0.00001
NM_030962.4(SBF2):c.5150C>T (p.Ser1717Phe) rs1428957767 0.00001
NM_030962.4(SBF2):c.5168A>G (p.Asn1723Ser) rs752274961 0.00001
NM_030962.4(SBF2):c.5180G>A (p.Arg1727Gln) rs765612411 0.00001
NM_030962.4(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315 0.00001
NM_030962.4(SBF2):c.5288G>A (p.Arg1763His) rs770839463 0.00001
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys) rs938347502 0.00001
NM_030962.4(SBF2):c.5324G>A (p.Arg1775His) rs574665066 0.00001
NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys) rs185926762 0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) rs746542104 0.00001
NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val) rs745534248 0.00001
NM_030962.4(SBF2):c.546G>T (p.Gln182His) rs886047534 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr) rs750660963 0.00001
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser) rs150725040 0.00001
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys) rs749815764 0.00001
NM_030962.4(SBF2):c.670G>A (p.Val224Ile) rs1209039793 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys) rs1947932613 0.00001
NM_030962.4(SBF2):c.763A>G (p.Ile255Val) rs1259744769 0.00001
NM_030962.4(SBF2):c.769A>G (p.Ile257Val) rs756866661 0.00001
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr) rs1044734721 0.00001
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg) rs1223197381 0.00001
NM_030962.4(SBF2):c.830A>C (p.His277Pro) rs1284766357 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_030962.4(SBF2):c.869T>G (p.Val290Gly) rs771827174 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.8G>A (p.Arg3Gln) rs1964355306 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala) rs1300253311 0.00001
NM_181882.3(PRX):c.1006G>T (p.Asp336Tyr) rs1299537537 0.00001
NM_181882.3(PRX):c.1019C>T (p.Pro340Leu) rs780373582 0.00001
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00001
NM_181882.3(PRX):c.1255A>T (p.Thr419Ser) rs766358380 0.00001
NM_181882.3(PRX):c.1286T>C (p.Val429Ala) rs776312092 0.00001
NM_181882.3(PRX):c.1300G>C (p.Val434Leu) rs746471273 0.00001
NM_181882.3(PRX):c.1315G>A (p.Gly439Arg) rs756439826 0.00001
NM_181882.3(PRX):c.134G>A (p.Arg45Gln) rs751441856 0.00001
NM_181882.3(PRX):c.138G>C (p.Glu46Asp) rs1477884504 0.00001
NM_181882.3(PRX):c.13A>G (p.Ser5Gly) rs767350599 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.148G>T (p.Asp50Tyr) rs528136982 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1529T>C (p.Met510Thr) rs780375180 0.00001
NM_181882.3(PRX):c.1538C>T (p.Pro513Leu) rs148742209 0.00001
NM_181882.3(PRX):c.15C>G (p.Ser5Arg) rs1408677034 0.00001
NM_181882.3(PRX):c.1616C>T (p.Pro539Leu) rs762424034 0.00001
NM_181882.3(PRX):c.1777A>G (p.Met593Val) rs1389523539 0.00001
NM_181882.3(PRX):c.1790A>G (p.Glu597Gly) rs746698242 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.17G>A (p.Arg6Gln) rs774078598 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.1919A>G (p.Lys640Arg) rs781739632 0.00001
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu) rs751935470 0.00001
NM_181882.3(PRX):c.1993A>G (p.Met665Val) rs747528144 0.00001
NM_181882.3(PRX):c.2018T>C (p.Met673Thr) rs760571664 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2188C>T (p.Pro730Ser) rs2079433440 0.00001
NM_181882.3(PRX):c.2209G>A (p.Val737Met) rs1237761863 0.00001
NM_181882.3(PRX):c.2221C>T (p.His741Tyr) rs1599653314 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.2267C>T (p.Pro756Leu) rs749585237 0.00001
NM_181882.3(PRX):c.2274G>T (p.Met758Ile) rs770109023 0.00001
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr) rs369505684 0.00001
NM_181882.3(PRX):c.2339C>T (p.Pro780Leu) rs371562775 0.00001
NM_181882.3(PRX):c.2345T>G (p.Val782Gly) rs747153697 0.00001
NM_181882.3(PRX):c.2353A>G (p.Lys785Glu) rs780270731 0.00001
NM_181882.3(PRX):c.2432G>T (p.Arg811Met) rs2079430119 0.00001
NM_181882.3(PRX):c.2558C>T (p.Thr853Ile) rs2079428604 0.00001
NM_181882.3(PRX):c.256T>C (p.Cys86Arg) rs765676916 0.00001
NM_181882.3(PRX):c.2582T>C (p.Leu861Pro) rs1192034174 0.00001
NM_181882.3(PRX):c.2591C>G (p.Ala864Gly) rs777582529 0.00001
NM_181882.3(PRX):c.25G>A (p.Glu9Lys) rs1020492565 0.00001
NM_181882.3(PRX):c.2642G>A (p.Arg881Gln) rs570264094 0.00001
NM_181882.3(PRX):c.2657A>T (p.Glu886Val) rs1212378012 0.00001
NM_181882.3(PRX):c.27+5G>C rs371520525 0.00001
NM_181882.3(PRX):c.2804A>C (p.Lys935Thr) rs1179595016 0.00001
NM_181882.3(PRX):c.2851G>T (p.Ala951Ser) rs748622767 0.00001
NM_181882.3(PRX):c.2860G>T (p.Ala954Ser) rs747471167 0.00001
NM_181882.3(PRX):c.2T>C (p.Met1Thr) rs1352237419 0.00001
NM_181882.3(PRX):c.3050A>G (p.Lys1017Arg) rs538922683 0.00001
NM_181882.3(PRX):c.3052G>A (p.Gly1018Arg) rs772827175 0.00001
NM_181882.3(PRX):c.307G>A (p.Gly103Arg) rs754510516 0.00001
NM_181882.3(PRX):c.3094G>A (p.Asp1032Asn) rs772431799 0.00001
NM_181882.3(PRX):c.3109G>A (p.Glu1037Lys) rs571311308 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_181882.3(PRX):c.3281T>G (p.Leu1094Arg) rs1270740440 0.00001
NM_181882.3(PRX):c.3292G>A (p.Glu1098Lys) rs565167885 0.00001
NM_181882.3(PRX):c.335T>C (p.Val112Ala) rs760944190 0.00001
NM_181882.3(PRX):c.3376C>A (p.Leu1126Met) rs1483705612 0.00001
NM_181882.3(PRX):c.3392C>A (p.Ala1131Asp) rs750801377 0.00001
NM_181882.3(PRX):c.3416A>G (p.His1139Arg) rs1268527552 0.00001
NM_181882.3(PRX):c.3419A>T (p.Asp1140Val) rs923473427 0.00001
NM_181882.3(PRX):c.346G>A (p.Glu116Lys) rs770713710 0.00001
NM_181882.3(PRX):c.3562C>A (p.Pro1188Thr) rs878855284 0.00001
NM_181882.3(PRX):c.3583C>T (p.Pro1195Ser) rs1555800544 0.00001
NM_181882.3(PRX):c.358C>A (p.Pro120Thr) rs762808329 0.00001
NM_181882.3(PRX):c.3622G>A (p.Glu1208Lys) rs767504243 0.00001
NM_181882.3(PRX):c.3624G>C (p.Glu1208Asp) rs1030878933 0.00001
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser) rs1303392170 0.00001
NM_181882.3(PRX):c.3674T>C (p.Val1225Ala) rs1329396084 0.00001
NM_181882.3(PRX):c.3703G>A (p.Glu1235Lys) rs1385904344 0.00001
NM_181882.3(PRX):c.3722G>C (p.Gly1241Ala) rs139120811 0.00001
NM_181882.3(PRX):c.3805G>A (p.Glu1269Lys) rs916285011 0.00001
NM_181882.3(PRX):c.381+6C>T rs778983888 0.00001
NM_181882.3(PRX):c.3835G>T (p.Val1279Leu) rs747247972 0.00001
NM_181882.3(PRX):c.3841C>T (p.Leu1281Phe) rs2079410935 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.392G>A (p.Ser131Asn) rs781394276 0.00001
NM_181882.3(PRX):c.4090G>A (p.Gly1364Arg) rs1481896317 0.00001
NM_181882.3(PRX):c.4103C>T (p.Ser1368Leu) rs768636520 0.00001
NM_181882.3(PRX):c.4109G>A (p.Arg1370His) rs756687548 0.00001
NM_181882.3(PRX):c.4115G>T (p.Gly1372Val) rs751906783 0.00001
NM_181882.3(PRX):c.4165G>A (p.Ala1389Thr) rs752060706 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu) rs1005254872 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.485A>C (p.Lys162Thr) rs879254072 0.00001
NM_181882.3(PRX):c.494G>A (p.Arg165His) rs780278195 0.00001
NM_181882.3(PRX):c.503G>A (p.Arg168Gln) rs763833871 0.00001
NM_181882.3(PRX):c.557G>A (p.Arg186Gln) rs569213133 0.00001
NM_181882.3(PRX):c.575G>A (p.Arg192Gln) rs944160754 0.00001
NM_181882.3(PRX):c.598G>A (p.Glu200Lys) rs767207935 0.00001
NM_181882.3(PRX):c.59T>C (p.Ile20Thr) rs767446213 0.00001
NM_181882.3(PRX):c.628G>A (p.Ala210Thr) rs775981300 0.00001
NM_181882.3(PRX):c.62T>C (p.Val21Ala) rs1167676481 0.00001
NM_181882.3(PRX):c.673G>T (p.Ala225Ser) rs754734195 0.00001
NM_181882.3(PRX):c.707T>C (p.Leu236Pro) rs876661240 0.00001
NM_181882.3(PRX):c.815C>T (p.Thr272Ile) rs747384252 0.00001
NM_181882.3(PRX):c.820G>C (p.Gly274Arg) rs750022799 0.00001
NM_181882.3(PRX):c.82G>A (p.Gly28Arg) rs2079513379 0.00001
NM_181882.3(PRX):c.830C>T (p.Ala277Val) rs1393962979 0.00001
NM_181882.3(PRX):c.901C>T (p.Pro301Ser) rs1453242996 0.00001
NM_181882.3(PRX):c.959C>T (p.Ser320Leu) rs760647416 0.00001
NM_181882.3(PRX):c.994A>G (p.Thr332Ala) rs143710873 0.00001
NC_000005.9:g.(?_148384274)_(148442585_?)dup
NC_000006.11:g.(?_109690054)_(110266416_?)dup
NC_000006.11:g.(?_109765394)_(110064995_?)dup
NC_000006.11:g.(?_110012639)_(110098283_?)dup
NC_000006.11:g.(?_110106153)_(110113887_?)del
NC_000006.11:g.(?_110106153)_(110146468_?)dup
NC_000006.11:g.(?_110117948)_(110118074_?)dup
NC_000006.12:g.(?_109825078)_(109825275_?)del
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_134251111)_(134296564_?)dup
NC_000008.10:g.(?_134251121)_(134296554_?)dup
NC_000008.10:g.(?_134266772)_(134276905_?)del
NC_000008.10:g.(?_134274280)_(134296564_?)dup
NC_000008.11:g.(?_133236171)_(133298304_?)dup
NC_000011.10:g.(?_10028442)_(10193997_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000011.9:g.(?_95568444)_(95568625_?)dup
NC_000011.9:g.(?_95568454)_(95657118_?)dup
NC_000011.9:g.(?_95574771)_(95598850_?)dup
NC_000011.9:g.(?_9801955)_(10064538_?)dup
NC_000012.11:g.(?_32729292)_(32793467_?)dup
NC_000012.11:g.(?_32786463)_(32793467_?)dup
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40899873)_(40904743_?)dup
NM_001005373.4(LRSAM1):c.2047-3C>T rs1588144581
NM_001303256.3(MORC2):c.1369+8_1369+9del rs1602485471
NM_001365951.3(KIF1B):c.2115+7159A>G rs1569777868
NM_001365951.3(KIF1B):c.2115+7161C>A rs766794209
NM_001370298.3(FGD4):c.*3113TA[4] rs57627640
NM_001370298.3(FGD4):c.*3113TA[6] rs57627640
NM_001370298.3(FGD4):c.*3894_*3895del rs780175220
NM_001370298.3(FGD4):c.*4772dup rs567814235
NM_001370298.3(FGD4):c.1004A>G (p.Glu335Gly) rs1304257221
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile) rs1592295526
NM_001370298.3(FGD4):c.1051C>A (p.Leu351Ile)
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr) rs1211624997
NM_001370298.3(FGD4):c.1079A>C (p.Asn360Thr)
NM_001370298.3(FGD4):c.1082G>A (p.Arg361Gln) rs903824731
NM_001370298.3(FGD4):c.1101+6A>T rs1948094442
NM_001370298.3(FGD4):c.1129G>A (p.Ala377Thr)
NM_001370298.3(FGD4):c.1141T>C (p.Ser381Pro)
NM_001370298.3(FGD4):c.1151C>T (p.Ala384Val) rs1295394925
NM_001370298.3(FGD4):c.1156A>G (p.Met386Val) rs1948410675
NM_001370298.3(FGD4):c.1158G>A (p.Met386Ile)
NM_001370298.3(FGD4):c.1202A>T (p.His401Leu) rs2136650004
NM_001370298.3(FGD4):c.1220C>A (p.Pro407Gln)
NM_001370298.3(FGD4):c.1248-3C>T
NM_001370298.3(FGD4):c.1268G>T (p.Gly423Val) rs2136658541
NM_001370298.3(FGD4):c.1286T>C (p.Leu429Ser) rs2136658634
NM_001370298.3(FGD4):c.1327T>C (p.Phe443Leu) rs2136659122
NM_001370298.3(FGD4):c.1333A>T (p.Asn445Tyr)
NM_001370298.3(FGD4):c.1334A>C (p.Asn445Thr) rs1451834045
NM_001370298.3(FGD4):c.1344A>T (p.Glu448Asp)
NM_001370298.3(FGD4):c.1370T>C (p.Ile457Thr)
NM_001370298.3(FGD4):c.1372C>T (p.Pro458Ser) rs2136659608
NM_001370298.3(FGD4):c.1387G>A (p.Val463Met) rs2136659690
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile) rs2082190695
NM_001370298.3(FGD4):c.1390G>T (p.Val464Phe)
NM_001370298.3(FGD4):c.1391T>C (p.Val464Ala) rs2136659782
NM_001370298.3(FGD4):c.1404+4A>T rs767855809
NM_001370298.3(FGD4):c.1404+5dup rs2136659935
NM_001370298.3(FGD4):c.1404+6A>T rs2136659955
NM_001370298.3(FGD4):c.1444A>G (p.Met482Val) rs1404084092
NM_001370298.3(FGD4):c.1454C>A (p.Pro485His) rs928398769
NM_001370298.3(FGD4):c.1463G>C (p.Arg488Pro) rs138762438
NM_001370298.3(FGD4):c.1472G>T (p.Arg491Leu)
NM_001370298.3(FGD4):c.1491G>T (p.Lys497Asn) rs1948897635
NM_001370298.3(FGD4):c.1493A>G (p.Asp498Gly)
NM_001370298.3(FGD4):c.1514C>T (p.Pro505Leu) rs1948899992
NM_001370298.3(FGD4):c.1535A>T (p.Asp512Val) rs754600353
NM_001370298.3(FGD4):c.1543A>C (p.Lys515Gln) rs2136725845
NM_001370298.3(FGD4):c.1546T>G (p.Ser516Ala) rs1396328756
NM_001370298.3(FGD4):c.1562C>T (p.Ser521Phe) rs1949089197
NM_001370298.3(FGD4):c.1605G>T (p.Glu535Asp) rs746263549
NM_001370298.3(FGD4):c.1619T>G (p.Leu540Arg)
NM_001370298.3(FGD4):c.1644AGA[3] (p.Glu551del) rs1264651352
NM_001370298.3(FGD4):c.1650A>C (p.Glu550Asp)
NM_001370298.3(FGD4):c.1667C>T (p.Pro556Leu) rs773514635
NM_001370298.3(FGD4):c.1669T>A (p.Ser557Thr) rs759385629
NM_001370298.3(FGD4):c.1730A>G (p.Gln577Arg) rs2136769216
NM_001370298.3(FGD4):c.1735C>T (p.Arg579Cys) rs1949117700
NM_001370298.3(FGD4):c.1738T>C (p.Tyr580His) rs1555217941
NM_001370298.3(FGD4):c.1798T>C (p.Ser600Pro) rs2136879170
NM_001370298.3(FGD4):c.1814G>A (p.Arg605Gln)
NM_001370298.3(FGD4):c.1817C>G (p.Thr606Ser) rs2136879434
NM_001370298.3(FGD4):c.1840A>C (p.Lys614Gln) rs1949689887
NM_001370298.3(FGD4):c.1922+4A>G rs760192025
NM_001370298.3(FGD4):c.1924T>G (p.Ser642Ala)
NM_001370298.3(FGD4):c.2024A>G (p.Asn675Ser) rs1592452330
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser) rs760696455
NM_001370298.3(FGD4):c.2035T>A (p.Ser679Thr) rs150746174
NM_001370298.3(FGD4):c.2103G>A (p.Met701Ile) rs1267580970
NM_001370298.3(FGD4):c.2117A>G (p.Lys706Arg) rs1950119263
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala) rs144693221
NM_001370298.3(FGD4):c.2122C>T (p.Pro708Ser) rs144693221
NM_001370298.3(FGD4):c.2123C>T (p.Pro708Leu) rs145071617
NM_001370298.3(FGD4):c.2141G>A (p.Arg714Gln) rs372890690
NM_001370298.3(FGD4):c.2162C>T (p.Ala721Val)
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg) rs1432249262
NM_001370298.3(FGD4):c.2228A>G (p.Lys743Arg) rs1950617596
NM_001370298.3(FGD4):c.2243G>T (p.Cys748Phe) rs1950618963
NM_001370298.3(FGD4):c.2249A>C (p.Asp750Ala) rs1950619446
NM_001370298.3(FGD4):c.2259A>C (p.Gln753His)
NM_001370298.3(FGD4):c.2278G>C (p.Asp760His) rs2137024260
NM_001370298.3(FGD4):c.2285A>G (p.Glu762Gly) rs139663812
NM_001370298.3(FGD4):c.2288A>T (p.Glu763Val) rs1484964809
NM_001370298.3(FGD4):c.2292_2294del (p.Lys765del)
NM_001370298.3(FGD4):c.2313+5G>C rs777362500
NM_001370298.3(FGD4):c.2330T>C (p.Val777Ala)
NM_001370298.3(FGD4):c.2340C>A (p.Asn780Lys) rs1555224749
NM_001370298.3(FGD4):c.2345T>C (p.Val782Ala) rs1296247975
NM_001370298.3(FGD4):c.2371G>C (p.Glu791Gln) rs1276989118
NM_001370298.3(FGD4):c.2404G>A (p.Val802Met) rs768786804
NM_001370298.3(FGD4):c.2423C>T (p.Pro808Leu)
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
NM_001370298.3(FGD4):c.2492A>G (p.Tyr831Cys) rs760349455
NM_001370298.3(FGD4):c.2518G>T (p.Ala840Ser) rs145630882
NM_001370298.3(FGD4):c.2538C>G (p.Phe846Leu) rs1336663423
NM_001370298.3(FGD4):c.2554A>G (p.Lys852Glu) rs1951098766
NM_001370298.3(FGD4):c.2560G>T (p.Val854Leu) rs61753359
NM_001370298.3(FGD4):c.2563C>T (p.His855Tyr) rs908838682
NM_001370298.3(FGD4):c.2590C>G (p.Leu864Val) rs1592515601
NM_001370298.3(FGD4):c.2591T>A (p.Leu864Gln) rs1592515619
NM_001370298.3(FGD4):c.2626G>A (p.Val876Ile) rs1411372303
NM_001370298.3(FGD4):c.2644G>A (p.Gly882Ser) rs775920519
NM_001370298.3(FGD4):c.2663del (p.Pro888fs) rs745923777
NM_001370298.3(FGD4):c.2665G>C (p.Ala889Pro)
NM_001370298.3(FGD4):c.2666C>A (p.Ala889Asp) rs2137094596
NM_001370298.3(FGD4):c.2666C>T (p.Ala889Val) rs2137094596
NM_001370298.3(FGD4):c.2680C>T (p.His894Tyr) rs1161666501
NM_001370298.3(FGD4):c.2704G>T (p.Glu902Ter) rs752612218
NM_001370298.3(FGD4):c.412A>G (p.Met138Val) rs1946127146
NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu) rs2136376441
NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu) rs540449675
NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)
NM_001370298.3(FGD4):c.503+3A>C rs2136376879
NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)
NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del) rs763887179
NM_001370298.3(FGD4):c.610C>G (p.Leu204Val) rs906371311
NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)
NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)
NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser) rs1282163986
NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe) rs201660852
NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser) rs1465985805
NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr) rs1946667139
NM_001370298.3(FGD4):c.719_733del (p.Glu240_Ala244del) rs1314855895
NM_001370298.3(FGD4):c.727A>G (p.Lys243Glu) rs1320412245
NM_001370298.3(FGD4):c.733G>A (p.Ala245Thr) rs1946669350
NM_001370298.3(FGD4):c.755C>G (p.Ser252Cys) rs1946671502
NM_001370298.3(FGD4):c.764C>T (p.Ala255Val) rs1946672101
NM_001370298.3(FGD4):c.785C>G (p.Thr262Arg) rs200732890
NM_001370298.3(FGD4):c.808G>T (p.Asp270Tyr)
NM_001370298.3(FGD4):c.823G>C (p.Ala275Pro)
NM_001370298.3(FGD4):c.824C>A (p.Ala275Asp)
NM_001370298.3(FGD4):c.838A>G (p.Thr280Ala) rs1463004734
NM_001370298.3(FGD4):c.845_846delinsTT (p.Asp282Val)
NM_001370298.3(FGD4):c.854A>T (p.Asp285Val) rs1565869688
NM_001370298.3(FGD4):c.862G>A (p.Ala288Thr)
NM_001370298.3(FGD4):c.900_902del (p.Val301del)
NM_001370298.3(FGD4):c.907C>T (p.Pro303Ser)
NM_001370298.3(FGD4):c.950A>G (p.Glu317Gly) rs1452437045
NM_001370298.3(FGD4):c.955G>A (p.Glu319Lys) rs1592295272
NM_001370298.3(FGD4):c.958A>G (p.Asn320Asp) rs1946688403
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001540.5(HSPB1):c.365-67C>T rs1583965825
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_002180.3(IGHMBP2):c.1588_1589dup (p.Pro531fs) rs1594453023
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) rs568119325
NM_006096.4(NDRG1):c.1021C>T (p.Arg341Cys)
NM_006096.4(NDRG1):c.1023CAGCCGCTCCCACACCAGCGAGGGCACCCG[3] (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGlyThrArgSerArgSerHisThrSerGluGly)
NM_006096.4(NDRG1):c.1023_1052dup (p.Gly369_Ala370insThrArgSerArgSerHisThrSerGluGly)
NM_006096.4(NDRG1):c.1032_1091del (p.340TRSRSHTSEG[1]) rs1554747479
NM_006096.4(NDRG1):c.1042G>C (p.Glu348Gln) rs775650624
NM_006096.4(NDRG1):c.1043A>G (p.Glu348Gly) rs2130656034
NM_006096.4(NDRG1):c.1047_1106del (p.340TRSRSHTSEG[1]) rs1855219414
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.1058G>A (p.Arg353His)
NM_006096.4(NDRG1):c.1062_1091del (p.340_349TRSRSHTSEG[2]) rs763499117
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4]) rs763499117
NM_006096.4(NDRG1):c.1066A>G (p.Thr356Ala) rs111835070
NM_006096.4(NDRG1):c.1072G>A (p.Glu358Lys) rs2130655766
NM_006096.4(NDRG1):c.1076G>A (p.Gly359Asp) rs144379016
NM_006096.4(NDRG1):c.1077_1106del (p.340TRSRSHTSEG[2]) rs1554747463
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys) rs1857979450
NM_006096.4(NDRG1):c.1102G>A (p.Glu368Lys)
NM_006096.4(NDRG1):c.1105G>C (p.Gly369Arg)
NM_006096.4(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.4(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.4(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.4(NDRG1):c.1132T>C (p.Ser378Pro)
NM_006096.4(NDRG1):c.1144G>A (p.Gly382Arg)
NM_006096.4(NDRG1):c.1150A>C (p.Ser384Arg)
NM_006096.4(NDRG1):c.1151G>A (p.Ser384Asn)
NM_006096.4(NDRG1):c.1171G>A (p.Glu391Lys) rs1413072034
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del) rs745669327
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp) rs1286565668
NM_006096.4(NDRG1):c.139A>G (p.Thr47Ala) rs2130743246
NM_006096.4(NDRG1):c.158A>C (p.Lys53Thr)
NM_006096.4(NDRG1):c.158A>G (p.Lys53Arg) rs140634799
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_006096.4(NDRG1):c.18G>C (p.Gln6His)
NM_006096.4(NDRG1):c.196G>T (p.Gly66Cys) rs780329667
NM_006096.4(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.4(NDRG1):c.217T>A (p.Tyr73Asn) rs368584363
NM_006096.4(NDRG1):c.218A>G (p.Tyr73Cys)
NM_006096.4(NDRG1):c.250_252del (p.Glu84del) rs1278099164
NM_006096.4(NDRG1):c.251A>G (p.Glu84Gly) rs1372913345
NM_006096.4(NDRG1):c.260A>C (p.Gln87Pro) rs1350908820
NM_006096.4(NDRG1):c.274T>C (p.Cys92Arg) rs2130736126
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.307G>T (p.Ala103Ser) rs374160497
NM_006096.4(NDRG1):c.314C>G (p.Ser105Cys) rs570291930
NM_006096.4(NDRG1):c.314C>T (p.Ser105Phe) rs570291930
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser) rs1856684767
NM_006096.4(NDRG1):c.326+5G>C
NM_006096.4(NDRG1):c.328T>C (p.Tyr110His) rs1586440110
NM_006096.4(NDRG1):c.332T>G (p.Met111Arg)
NM_006096.4(NDRG1):c.340T>A (p.Ser114Thr)
NM_006096.4(NDRG1):c.343A>G (p.Met115Val)
NM_006096.4(NDRG1):c.347A>T (p.Asp116Val) rs2130727469
NM_006096.4(NDRG1):c.350A>T (p.Gln117Leu) rs2130727461
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro) rs1856537884
NM_006096.4(NDRG1):c.380A>G (p.Gln127Arg)
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) rs574238421
NM_006096.4(NDRG1):c.389G>A (p.Gly130Glu) rs759258704
NM_006096.4(NDRG1):c.410T>C (p.Met137Thr) rs1856491809
NM_006096.4(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.4(NDRG1):c.448G>A (p.Ala150Thr) rs150796527
NM_006096.4(NDRG1):c.455A>C (p.Asn152Thr)
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys) rs760921567
NM_006096.4(NDRG1):c.468G>A (p.Met156Ile) rs1856402568
NM_006096.4(NDRG1):c.469G>A (p.Val157Met)
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser) rs1857976213
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys) rs1856400076
NM_006096.4(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.4(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu) rs1857975791
NM_006096.4(NDRG1):c.521A>T (p.Asp174Val)
NM_006096.4(NDRG1):c.523T>C (p.Trp175Arg) rs1586434783
NM_006096.4(NDRG1):c.529G>A (p.Ala177Thr) rs753878542
NM_006096.4(NDRG1):c.52G>A (p.Glu18Lys)
NM_006096.4(NDRG1):c.538-5T>A rs1175681774
NM_006096.4(NDRG1):c.584T>A (p.Leu195His) rs1856262402
NM_006096.4(NDRG1):c.595-6A>G rs1554749794
NM_006096.4(NDRG1):c.601A>G (p.Met201Val)
NM_006096.4(NDRG1):c.605A>C (p.Gln202Pro)
NM_006096.4(NDRG1):c.63G>A (p.Glu21=)
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.646G>T (p.Val216Leu)
NM_006096.4(NDRG1):c.650A>G (p.Asn217Ser)
NM_006096.4(NDRG1):c.666C>A (p.Gly222=) rs1432095364
NM_006096.4(NDRG1):c.67A>G (p.Ile23Val)
NM_006096.4(NDRG1):c.691T>A (p.Tyr231Asn) rs1351711662
NM_006096.4(NDRG1):c.698+5T>G
NM_006096.4(NDRG1):c.698+6G>T
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser) rs1187584644
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys) rs377527660
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala) rs1276502410
NM_006096.4(NDRG1):c.751C>G (p.Leu251Val) rs1855837616
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr) rs1855781697
NM_006096.4(NDRG1):c.761C>T (p.Pro254Leu)
NM_006096.4(NDRG1):c.770T>C (p.Leu257Ser)
NM_006096.4(NDRG1):c.775G>A (p.Val259Ile)
NM_006096.4(NDRG1):c.776T>C (p.Val259Ala) rs201759485
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val) rs1855777702
NM_006096.4(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser) rs752290896
NM_006096.4(NDRG1):c.818A>G (p.Asn273Ser)
NM_006096.4(NDRG1):c.835A>G (p.Thr279Ala)
NM_006096.4(NDRG1):c.842C>A (p.Thr281Asn)
NM_006096.4(NDRG1):c.845C>G (p.Thr282Ser) rs1449128690
NM_006096.4(NDRG1):c.855+4C>G rs1045595033
NM_006096.4(NDRG1):c.863_872del (p.Asp288fs)
NM_006096.4(NDRG1):c.866_875del (p.Cys289fs) rs2130676399
NM_006096.4(NDRG1):c.871G>A (p.Gly291Ser)
NM_006096.4(NDRG1):c.892C>T (p.Pro298Ser)
NM_006096.4(NDRG1):c.943+5G>A rs778982295
NM_006096.4(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.4(NDRG1):c.956G>T (p.Ser319Ile)
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu) rs1307068606
NM_006096.4(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006096.4(NDRG1):c.980_981delinsTT (p.Arg327Leu)
NM_006096.4(NDRG1):c.983C>T (p.Thr328Ile)
NM_006096.4(NDRG1):c.986C>A (p.Ala329Asp)
NM_006096.4(NDRG1):c.99+18C>G
NM_014845.6(FIG4):c.*150_*151del rs886060986
NM_014845.6(FIG4):c.1012A>G (p.Thr338Ala)
NM_014845.6(FIG4):c.1012A>T (p.Thr338Ser) rs771265385
NM_014845.6(FIG4):c.1015A>G (p.Met339Val) rs2128386978
NM_014845.6(FIG4):c.1039+5G>T
NM_014845.6(FIG4):c.1039+6T>C
NM_014845.6(FIG4):c.1066G>A (p.Val356Met)
NM_014845.6(FIG4):c.1085A>T (p.Asp362Val) rs1776394936
NM_014845.6(FIG4):c.1090A>C (p.Met364Leu) rs2295837
NM_014845.6(FIG4):c.1097A>G (p.Gln366Arg)
NM_014845.6(FIG4):c.1101G>T (p.Arg367Ser)
NM_014845.6(FIG4):c.1112C>G (p.Pro371Arg) rs2128387082
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met) rs754932535
NM_014845.6(FIG4):c.112G>A (p.Val38Ile) rs761940298
NM_014845.6(FIG4):c.1163G>T (p.Arg388Ile) rs2128391017
NM_014845.6(FIG4):c.1181TTG[1] (p.Val395del) rs1777062850
NM_014845.6(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.6(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.6(FIG4):c.1224G>T (p.Glu408Asp)
NM_014845.6(FIG4):c.1225C>A (p.His409Asn) rs748995164
NM_014845.6(FIG4):c.1225C>T (p.His409Tyr) rs748995164
NM_014845.6(FIG4):c.1232T>C (p.Ile411Thr)
NM_014845.6(FIG4):c.1270A>G (p.Ser424Gly) rs1777066450
NM_014845.6(FIG4):c.1272-3C>T
NM_014845.6(FIG4):c.1274A>G (p.Lys425Arg) rs2128391428
NM_014845.6(FIG4):c.1312G>A (p.Glu438Lys) rs2128391437
NM_014845.6(FIG4):c.1316G>A (p.Ser439Asn)
NM_014845.6(FIG4):c.131C>T (p.Thr44Ile) rs375629140
NM_014845.6(FIG4):c.1349G>A (p.Arg450His) rs188547769
NM_014845.6(FIG4):c.1349G>T (p.Arg450Leu) rs188547769
NM_014845.6(FIG4):c.1355A>G (p.Asp452Gly) rs1777129902
NM_014845.6(FIG4):c.1363T>G (p.Cys455Gly) rs1012991465
NM_014845.6(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.6(FIG4):c.1388+5G>T rs200730266
NM_014845.6(FIG4):c.1388+8T>A rs1255543487
NM_014845.6(FIG4):c.1424G>A (p.Gly475Asp) rs1777192183
NM_014845.6(FIG4):c.1435A>G (p.Thr479Ala)
NM_014845.6(FIG4):c.1504A>G (p.Lys502Glu)
NM_014845.6(FIG4):c.1548C>G (p.Asp516Glu)
NM_014845.6(FIG4):c.1557T>G (p.Asn519Lys)
NM_014845.6(FIG4):c.1571C>T (p.Thr524Ile)
NM_014845.6(FIG4):c.1574A>G (p.Asp525Gly)
NM_014845.6(FIG4):c.157G>A (p.Asp53Asn) rs121908290
NM_014845.6(FIG4):c.1583+3A>G rs866431185
NM_014845.6(FIG4):c.1584-3T>C
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro) rs1422048624
NM_014845.6(FIG4):c.1679T>C (p.Ile560Thr)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser) rs868101103
NM_014845.6(FIG4):c.1708A>G (p.Ile570Val)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp) rs1775432556
NM_014845.6(FIG4):c.1712T>G (p.Met571Arg) rs2128392626
NM_014845.6(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala) rs748869342
NM_014845.6(FIG4):c.1765G>C (p.Asp589His) rs1777637029
NM_014845.6(FIG4):c.1799C>T (p.Pro600Leu)
NM_014845.6(FIG4):c.1801A>G (p.Thr601Ala) rs986837200
NM_014845.6(FIG4):c.1802C>T (p.Thr601Ile) rs1777638670
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu) rs754127221
NM_014845.6(FIG4):c.1823G>T (p.Trp608Leu) rs1375864580
NM_014845.6(FIG4):c.182A>G (p.Gln61Arg) rs1775433375
NM_014845.6(FIG4):c.183A>G (p.Gln61=) rs1775433473
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe) rs1777642023
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.6(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.6(FIG4):c.1887A>C (p.Arg629Ser) rs1399283870
NM_014845.6(FIG4):c.1890-14T>G rs1562682595
NM_014845.6(FIG4):c.1913A>G (p.Glu638Gly)
NM_014845.6(FIG4):c.1931C>A (p.Pro644Gln)
NM_014845.6(FIG4):c.1948+3A>T
NM_014845.6(FIG4):c.1949-10T>A rs896444437
NM_014845.6(FIG4):c.1949-10TC[2]
NM_014845.6(FIG4):c.1949-6_1949-3del
NM_014845.6(FIG4):c.1952T>C (p.Ile651Thr) rs2128396248
NM_014845.6(FIG4):c.1954T>C (p.Cys652Arg)
NM_014845.6(FIG4):c.1978A>T (p.Ile660Leu) rs1777954967
NM_014845.6(FIG4):c.1981G>T (p.Val661Leu)
NM_014845.6(FIG4):c.1995C>G (p.His665Gln)
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu) rs781038961
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His) rs1777955968
NM_014845.6(FIG4):c.19C>T (p.Pro7Ser) rs1367256224
NM_014845.6(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.6(FIG4):c.2031C>G (p.Phe677Leu)
NM_014845.6(FIG4):c.2047T>G (p.Leu683Val) rs761084217
NM_014845.6(FIG4):c.2052C>A (p.Ser684Arg) rs183958565
NM_014845.6(FIG4):c.2066C>A (p.Thr689Asn) rs1470703929
NM_014845.6(FIG4):c.206G>A (p.Arg69His)
NM_014845.6(FIG4):c.2080A>C (p.Met694Leu)
NM_014845.6(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.6(FIG4):c.2149A>G (p.Lys717Glu) rs1259009213
NM_014845.6(FIG4):c.2152C>G (p.Pro718Ala) rs199801181
NM_014845.6(FIG4):c.2177T>G (p.Leu726Trp) rs1778084158
NM_014845.6(FIG4):c.2180+3A>G rs1778084325
NM_014845.6(FIG4):c.2181-10C>A rs1583740892
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser) rs1778129763
NM_014845.6(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.6(FIG4):c.2201A>G (p.Glu734Gly)
NM_014845.6(FIG4):c.2204C>G (p.Ala735Gly) rs2128397245
NM_014845.6(FIG4):c.2215C>T (p.Arg739Trp) rs773877685
NM_014845.6(FIG4):c.2242C>T (p.Pro748Ser)
NM_014845.6(FIG4):c.2260G>A (p.Val754Met) rs200691981
NM_014845.6(FIG4):c.2296C>G (p.Arg766Gly) rs552937585
NM_014845.6(FIG4):c.2297G>A (p.Arg766Gln)
NM_014845.6(FIG4):c.2324G>A (p.Arg775His) rs775280287
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys) rs760215765
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro) rs1778137467
NM_014845.6(FIG4):c.2376+4C>G
NM_014845.6(FIG4):c.2376+4C>T
NM_014845.6(FIG4):c.2376+5G>C rs528952794
NM_014845.6(FIG4):c.2378A>C (p.Asn793Thr)
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014845.6(FIG4):c.2443T>C (p.Phe815Leu)
NM_014845.6(FIG4):c.2445C>G (p.Phe815Leu)
NM_014845.6(FIG4):c.2459G>T (p.Arg820Ile)
NM_014845.6(FIG4):c.2460-10T>C rs749053854
NM_014845.6(FIG4):c.2460-12T>A rs1264436643
NM_014845.6(FIG4):c.2460-5T>A
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr) rs1778299963
NM_014845.6(FIG4):c.2546+5G>A rs1060501401
NM_014845.6(FIG4):c.2547-3T>A rs537171532
NM_014845.6(FIG4):c.2551C>T (p.Pro851Ser) rs773347231
NM_014845.6(FIG4):c.2559_2560delinsAT (p.Ala854Ser) rs2128402653
NM_014845.6(FIG4):c.2582A>G (p.Tyr861Cys) rs2128402659
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg) rs539773516
NM_014845.6(FIG4):c.2607C>G (p.Asp869Glu)
NM_014845.6(FIG4):c.2623A>T (p.Ile875Phe)
NM_014845.6(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.6(FIG4):c.263G>T (p.Arg88Leu)
NM_014845.6(FIG4):c.2645C>A (p.Ala882Asp) rs2128402682
NM_014845.6(FIG4):c.2653G>A (p.Gly885Ser) rs2128402684
NM_014845.6(FIG4):c.2662C>T (p.Gln888Ter) rs1306576733
NM_014845.6(FIG4):c.2669T>G (p.Leu890Arg) rs2128402689
NM_014845.6(FIG4):c.2672G>A (p.Gly891Glu)
NM_014845.6(FIG4):c.2680G>A (p.Asp894Asn)
NM_014845.6(FIG4):c.2714G>A (p.Arg905His) rs780921285
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp) rs1775437078
NM_014845.6(FIG4):c.299G>T (p.Arg100Met)
NM_014845.6(FIG4):c.29G>A (p.Ser10Asn) rs979929537
NM_014845.6(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.6(FIG4):c.314A>G (p.Tyr105Cys)
NM_014845.6(FIG4):c.326TAA[1] (p.Ile110del)
NM_014845.6(FIG4):c.337A>C (p.Arg113=)
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu) rs1775846393
NM_014845.6(FIG4):c.38A>G (p.Gln13Arg) rs1774392570
NM_014845.6(FIG4):c.395T>G (p.Met132Arg)
NM_014845.6(FIG4):c.397A>G (p.Ile133Val) rs777011122
NM_014845.6(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys) rs571563767
NM_014845.6(FIG4):c.413A>G (p.Asp138Gly) rs1775848896
NM_014845.6(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu) rs1775849908
NM_014845.6(FIG4):c.446+3A>G rs201642753
NM_014845.6(FIG4):c.447-565_447-564inv
NM_014845.6(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.6(FIG4):c.475C>G (p.Leu159Val)
NM_014845.6(FIG4):c.485A>T (p.Asn162Ile) rs2128385214
NM_014845.6(FIG4):c.497G>A (p.Ser166Asn)
NM_014845.6(FIG4):c.506A>G (p.Tyr169Cys)
NM_014845.6(FIG4):c.512_514del (p.Leu171del) rs763532476
NM_014845.6(FIG4):c.527A>G (p.Gln176Arg) rs1776123608
NM_014845.6(FIG4):c.533A>C (p.Asn178Thr)
NM_014845.6(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.6(FIG4):c.539C>T (p.Thr180Ile)
NM_014845.6(FIG4):c.553C>A (p.Pro185Thr)
NM_014845.6(FIG4):c.57G>C (p.Glu19Asp) rs2128375315
NM_014845.6(FIG4):c.590G>A (p.Arg197His)
NM_014845.6(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.6(FIG4):c.592C>G (p.Gln198Glu)
NM_014845.6(FIG4):c.61A>G (p.Arg21Gly)
NM_014845.6(FIG4):c.62G>A (p.Arg21Lys) rs1041331138
NM_014845.6(FIG4):c.676A>G (p.Met226Val)
NM_014845.6(FIG4):c.67A>G (p.Arg23Gly) rs1775386814
NM_014845.6(FIG4):c.725T>C (p.Val242Ala)
NM_014845.6(FIG4):c.756T>G (p.His252Gln)
NM_014845.6(FIG4):c.760T>C (p.Phe254Leu) rs2128386168
NM_014845.6(FIG4):c.775+5C>G rs1776227879
NM_014845.6(FIG4):c.7A>T (p.Thr3Ser)
NM_014845.6(FIG4):c.803A>G (p.Tyr268Cys)
NM_014845.6(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.6(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr) rs1776324068
NM_014845.6(FIG4):c.892G>C (p.Glu298Gln)
NM_014845.6(FIG4):c.911T>C (p.Ile304Thr)
NM_014845.6(FIG4):c.915C>T (p.Leu305=)
NM_014845.6(FIG4):c.935C>G (p.Ser312Cys)
NM_014845.6(FIG4):c.962A>G (p.Tyr321Cys)
NM_014845.6(FIG4):c.976G>A (p.Gly326Arg) rs778157600
NM_014845.6(FIG4):c.998C>T (p.Ser333Phe)
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_016156.6(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.6(MTMR2):c.*1343_*1344del rs886048765
NM_016156.6(MTMR2):c.*345CT[1] rs762396029
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly) rs1867038226
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser) rs778906960
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe) rs2135433928
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr) rs1555060014
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr) rs774525225
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly) rs1863726953
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg) rs1590978234
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn) rs1565348037
NM_016156.6(MTMR2):c.1387-3C>T rs2135417340
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr) rs1193305699
NM_016156.6(MTMR2):c.1457G>C (p.Cys486Ser) rs765313279
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr) rs761100126
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg) rs1014132718
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile) rs2135548901
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His) rs1565344022
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr) rs2135548895
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn) rs376530848
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr) rs376530848
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln) rs2135402121
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr) rs2135402110
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu) rs1863277955
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly) rs771548803
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val) rs1863269909
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr) rs1863268067
NM_016156.6(MTMR2):c.1770+3A>T
NM_016156.6(MTMR2):c.1770+4T>C rs1565342479
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser) rs749010549
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter) rs138746296
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter) rs886048770
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys) rs2135399090
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs) rs769866540
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu) rs1392067749
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro) rs371925152
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala) rs770755992
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser) rs2135548808
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys) rs1863216623
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser) rs747684213
NM_016156.6(MTMR2):c.1916del (p.Val639fs) rs779740723
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe) rs1867037031
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln) rs1237939737
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met) rs750344055
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp) rs2135659936
NM_016156.6(MTMR2):c.262+5G>A rs1565361115
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met) rs769020850
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln) rs1864454618
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu) rs1590997541
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val) rs2135475998
NM_016156.6(MTMR2):c.349A>G (p.Met117Val) rs2135475834
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys) rs1864451374
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly) rs142774695
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
NM_016156.6(MTMR2):c.370_372del (p.Val124del) rs2135475047
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala) rs1864439728
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp) rs1555065024
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln) rs1555065007
NM_016156.6(MTMR2):c.432_434del (p.Gly145del) rs1864437836
NM_016156.6(MTMR2):c.444T>G (p.Ser148=) rs1555065002
NM_016156.6(MTMR2):c.469-3T>C rs191224855
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu) rs1864296648
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp) rs1419183415
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val) rs1864295304
NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser) rs1055618502
NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser) rs577896427
NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu) rs952672162
NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr) rs1225667280
NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln) rs758629389
NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn) rs1863982879
NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser) rs540766159
NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del) rs878855016
NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe) rs1376231939
NM_016156.6(MTMR2):c.80+6C>T
NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr) rs1863978401
NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu) rs777854770
NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys) rs2135439554
NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg) rs3824874
NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
NM_016156.6(MTMR2):c.94C>T (p.His32Tyr) rs1591025020
NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln) rs2135439249
NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn) rs2135439231
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_024577.4(SH3TC2):c.*10051ACCA[13] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[14] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.4(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.4(SH3TC2):c.*12114dup rs886060125
NM_024577.4(SH3TC2):c.*147A>T rs147796833
NM_024577.4(SH3TC2):c.*15311del rs886060114
NM_024577.4(SH3TC2):c.*16856CA[21] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[24] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[26] rs71957589
NM_024577.4(SH3TC2):c.*18483dup rs536826583
NM_024577.4(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.4(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.4(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.4(SH3TC2):c.*2141C>T rs535223944
NM_024577.4(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.4(SH3TC2):c.*22553del rs55932017
NM_024577.4(SH3TC2):c.*4183T>C rs886060176
NM_024577.4(SH3TC2):c.*5279del rs573168274
NM_024577.4(SH3TC2):c.*5634C>A rs565468168
NM_024577.4(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.4(SH3TC2):c.*6870ACA[1] rs567997802
NM_024577.4(SH3TC2):c.*7016ATATT[1] rs886060164
NM_024577.4(SH3TC2):c.*7189C>G rs886060163
NM_024577.4(SH3TC2):c.*839del rs886060189
NM_024577.4(SH3TC2):c.*8424CT[7] rs146811206
NM_024577.4(SH3TC2):c.*8424CT[9] rs146811206
NM_024577.4(SH3TC2):c.*862del rs886060188
NM_024577.4(SH3TC2):c.*862dup rs886060187
NM_024577.4(SH3TC2):c.*9121del rs886060149
NM_024577.4(SH3TC2):c.*9974ATCC[11] rs201323132
NM_024577.4(SH3TC2):c.*9974ATCC[14] rs201323132
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1001+5G>T rs1754315788
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly) rs753849885
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg) rs1299916015
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro) rs1580917049
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr) rs2127398548
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu) rs551803988
NM_024577.4(SH3TC2):c.1135+3G>A
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg) rs761184149
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro) rs141544031
NM_024577.4(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.4(SH3TC2):c.1178-11T>C
NM_024577.4(SH3TC2):c.1178-8C>A rs202042438
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala) rs2127397715
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu) rs549821020
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser) rs1212536660
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu) rs774001683
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu) rs777133915
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys) rs1309091718
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala) rs1561765509
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro) rs1441405268
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu) rs377342074
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala) rs1469647354
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr) rs1368926236
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu) rs749587305
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu) rs1580901388
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly) rs1489505012
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn) rs1234062925
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val) rs779447016
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg) rs1673272488
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe) rs543440112
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly) rs1416723910
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro) rs372841815
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe) rs768299505
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro) rs1754109858
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val) rs1437440770
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe) rs759220976
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu) rs2127397529
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys) rs1754104023
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr) rs201789838
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=) rs1219611610
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu) rs1311201400
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp) rs1380546665
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser) rs1754098320
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys) rs1754097515
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala) rs1754096756
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg) rs1171441665
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile) rs773433720
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val) rs2127397326
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile) rs1317532477
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr) rs2127397284
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe) rs2127397272
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val) rs962648069
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr) rs1754493155
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro) rs1580900331
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His) rs2127397225
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly) rs1754089250
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys) rs1754083548
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala) rs749133472
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val) rs139958177
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro) rs142971473
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu) rs1754079774
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu) rs189591944
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg) rs2127397025
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile) rs1754076431
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser) rs2127402247
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val) rs1754076016
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu) rs2127397007
NM_024577.4(SH3TC2):c.280-3T>C
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe) rs1380115510
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu) rs1453743523
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser) rs765951062
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe) rs541695222
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro) rs1754073175
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
NM_024577.4(SH3TC2):c.2872+4_2872+7del rs1754073023
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser) rs369258246
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup) rs2127396888
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg) rs1580899530
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met) rs1561770787
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro) rs2127396874
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala) rs2127396858
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe) rs1243271992
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val) rs2127401449
NM_024577.4(SH3TC2):c.3053+11G>T
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp) rs755666455
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln) rs1580891410
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val) rs2127393379
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His) rs1754426829
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys) rs760656119
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met) rs2127392867
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
NM_024577.4(SH3TC2):c.3327+6T>G
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu) rs115577291
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile) rs752094727
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser) rs1753736056
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr) rs778351829
NM_024577.4(SH3TC2):c.3478+4G>A
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly) rs2127392009
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser) rs1343590454
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser) rs1561756981
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu) rs776962303
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys) rs926087682
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp) rs1753699992
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr) rs1580912012
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met) rs1580912012
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met) rs756174696
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys) rs267600481
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs) rs369695480
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
NM_024577.4(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln) rs1753659994
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser) rs1753657850
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg) rs1210794926
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala) rs945895550
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg) rs1753657395
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp) rs1753656892
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser) rs370090569
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del) rs1554120043
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp) rs771840516
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg) rs1168407927
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro) rs2127400975
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp) rs1423301895
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala) rs779715536
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu) rs768029461
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val) rs2127400948
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg) rs1408319932
NM_024577.4(SH3TC2):c.53-5_53-3del
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del) rs763476083
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro) rs2127400685
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys) rs1754371704
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp) rs748374150
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs532463685
NM_024577.4(SH3TC2):c.682G>A (p.Gly228Ser) rs751022040
NM_024577.4(SH3TC2):c.731+4A>G
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu) rs751095271
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser) rs760971566
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr) rs2127400485
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met) rs1580908028
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe) rs1754319874
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser) rs1204913371
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) rs757292503
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly) rs763037689
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys) rs2127400005
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser) rs1233598157
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp) rs1465198831
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala) rs1754317882
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg) rs1754317705
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr) rs1754317366
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu) rs1251082752
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr) rs1754316407
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn) rs759977048
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu) rs2134472163
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.4(SBF2):c.1167+4A>G rs1240919799
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile) rs1957273770
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys) rs1590699984
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys) rs2134469917
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser) rs2134469840
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu) rs760704483
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr) rs1947481086
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu) rs2134459399
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
NM_030962.4(SBF2):c.1396-3C>G rs375346684
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
NM_030962.4(SBF2):c.1412A>T (p.His471Leu) rs763176916
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1414A>G (p.Met472Val) rs1590636623
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg) rs2134388086
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro) rs2134387742
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp) rs1474146157
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala) rs2134387621
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr) rs1207040016
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala) rs1867103004
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu) rs1590635892
NM_030962.4(SBF2):c.1601-10C>A rs761998992
NM_030962.4(SBF2):c.1601-3T>G rs2134369689
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu) rs775279773
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys) rs2134369489
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys) rs1161860280
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
NM_030962.4(SBF2):c.1711-5C>A rs770969528
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu) rs549233218
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val) rs2134363226
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu) rs964428805
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
NM_030962.4(SBF2):c.1862A>G (p.Asp621Gly) rs765204789
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp) rs376057124
NM_030962.4(SBF2):c.1906C>A (p.Pro636Thr)
NM_030962.4(SBF2):c.1911G>C (p.Leu637Phe) rs1373091395
NM_030962.4(SBF2):c.1925A>G (p.Tyr642Cys)
NM_030962.4(SBF2):c.1928G>A (p.Arg643Lys)
NM_030962.4(SBF2):c.1929+4A>C
NM_030962.4(SBF2):c.1929+4A>G
NM_030962.4(SBF2):c.1931A>C (p.Lys644Thr) rs1857475272
NM_030962.4(SBF2):c.1953G>C (p.Gln651His) rs2134007186
NM_030962.4(SBF2):c.1958C>T (p.Ala653Val) rs2134007178
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu) rs1949709027
NM_030962.4(SBF2):c.1997A>G (p.Gln666Arg) rs2134006965
NM_030962.4(SBF2):c.2023A>C (p.Asn675His)
NM_030962.4(SBF2):c.2041G>A (p.Val681Ile)
NM_030962.4(SBF2):c.2083C>G (p.Pro695Ala)
NM_030962.4(SBF2):c.2102A>G (p.Asp701Gly) rs1590235062
NM_030962.4(SBF2):c.2128_2130del (p.Glu710del)
NM_030962.4(SBF2):c.2140A>G (p.Met714Val)
NM_030962.4(SBF2):c.2149G>A (p.Ala717Thr)
NM_030962.4(SBF2):c.2150C>T (p.Ala717Val) rs1857337701
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
NM_030962.4(SBF2):c.2206G>A (p.Val736Met)
NM_030962.4(SBF2):c.2257C>T (p.Leu753Phe) rs1857329536
NM_030962.4(SBF2):c.2260A>T (p.Met754Leu) rs745452169
NM_030962.4(SBF2):c.2293A>G (p.Lys765Glu)
NM_030962.4(SBF2):c.2329T>G (p.Trp777Gly) rs1321841784
NM_030962.4(SBF2):c.2363+15A>G
NM_030962.4(SBF2):c.2381C>T (p.Ala794Val) rs1857121933
NM_030962.4(SBF2):c.2482A>G (p.Thr828Ala)
NM_030962.4(SBF2):c.2492G>C (p.Gly831Ala)
NM_030962.4(SBF2):c.2513A>G (p.Lys838Arg)
NM_030962.4(SBF2):c.2531T>A (p.Ile844Lys)
NM_030962.4(SBF2):c.2537-10C>G
NM_030962.4(SBF2):c.2537-11A>G
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.4(SBF2):c.2596C>A (p.Pro866Thr) rs1228676321
NM_030962.4(SBF2):c.2599C>T (p.Pro867Ser) rs1857042661
NM_030962.4(SBF2):c.2610G>A (p.Lys870=)
NM_030962.4(SBF2):c.2612C>G (p.Pro871Arg) rs1856823248
NM_030962.4(SBF2):c.2627C>G (p.Pro876Arg) rs912881512
NM_030962.4(SBF2):c.2653G>T (p.Val885Phe) rs1856820562
NM_030962.4(SBF2):c.2663G>T (p.Gly888Val) rs777117399
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp) rs1565165888
NM_030962.4(SBF2):c.2689G>A (p.Gly897Arg) rs1554924568
NM_030962.4(SBF2):c.2710G>T (p.Gly904Cys) rs1856816602
NM_030962.4(SBF2):c.2717T>C (p.Leu906Pro) rs1856816042
NM_030962.4(SBF2):c.2722G>A (p.Gly908Ser) rs1856815904
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr) rs1206056257
NM_030962.4(SBF2):c.2743G>A (p.Glu915Lys)
NM_030962.4(SBF2):c.2743G>C (p.Glu915Gln)
NM_030962.4(SBF2):c.2783G>T (p.Arg928Ile)
NM_030962.4(SBF2):c.2789C>A (p.Thr930Lys) rs755578344
NM_030962.4(SBF2):c.279+4C>A rs757128114
NM_030962.4(SBF2):c.2795A>G (p.His932Arg) rs1554924467
NM_030962.4(SBF2):c.2798A>G (p.Asp933Gly)
NM_030962.4(SBF2):c.280-6_280-5del
NM_030962.4(SBF2):c.2813A>G (p.Glu938Gly)
NM_030962.4(SBF2):c.2827C>T (p.Arg943Trp) rs1324654662
NM_030962.4(SBF2):c.2839A>G (p.Ile947Val)
NM_030962.4(SBF2):c.2848A>C (p.Ile950Leu)
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) rs1856598871
NM_030962.4(SBF2):c.2867T>C (p.Ile956Thr) rs2133973910
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276
NM_030962.4(SBF2):c.2897_2898delinsAT (p.Met966Asn) rs2133973790
NM_030962.4(SBF2):c.2927C>T (p.Ser976Phe) rs1564909729
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
NM_030962.4(SBF2):c.2941A>G (p.Lys981Glu)
NM_030962.4(SBF2):c.2948C>A (p.Ala983Glu)
NM_030962.4(SBF2):c.2975TAG[1] (p.Val993del)
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.4(SBF2):c.3010C>T (p.Arg1004Cys) rs1008990516
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
NM_030962.4(SBF2):c.3084A>C (p.Lys1028Asn)
NM_030962.4(SBF2):c.3087G>T (p.Gln1029His)
NM_030962.4(SBF2):c.3098A>G (p.Asn1033Ser) rs1856485648
NM_030962.4(SBF2):c.3104C>A (p.Ser1035Tyr) rs1856484914
NM_030962.4(SBF2):c.3110+4A>G
NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro) rs748477865
NM_030962.4(SBF2):c.3111-3T>C rs2133961719
NM_030962.4(SBF2):c.3111-7C>G rs1856254310
NM_030962.4(SBF2):c.3115T>G (p.Phe1039Val)
NM_030962.4(SBF2):c.3125C>T (p.Thr1042Ile) rs1856252791
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu) rs139730490
NM_030962.4(SBF2):c.3142A>G (p.Lys1048Glu)
NM_030962.4(SBF2):c.3167G>C (p.Gly1056Ala)
NM_030962.4(SBF2):c.3194C>T (p.Thr1065Ile) rs2133961495
NM_030962.4(SBF2):c.3198G>T (p.Gly1066=) rs150130142
NM_030962.4(SBF2):c.3200C>A (p.Thr1067Lys)
NM_030962.4(SBF2):c.3214A>G (p.Arg1072Gly)
NM_030962.4(SBF2):c.3226C>G (p.Pro1076Ala)
NM_030962.4(SBF2):c.3229G>A (p.Gly1077Arg) rs761048786
NM_030962.4(SBF2):c.3250G>A (p.Val1084Ile) rs1331366931
NM_030962.4(SBF2):c.3257-69_3282del rs1855973417
NM_030962.4(SBF2):c.3257-8C>A rs1855976609
NM_030962.4(SBF2):c.3278C>G (p.Pro1093Arg) rs762973514
NM_030962.4(SBF2):c.3298G>A (p.Ala1100Thr) rs1855971560
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu) rs1855969532
NM_030962.4(SBF2):c.3329T>C (p.Val1110Ala)
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro) rs1949239187
NM_030962.4(SBF2):c.3340T>G (p.Cys1114Gly)
NM_030962.4(SBF2):c.3376A>G (p.Ile1126Val) rs747669195
NM_030962.4(SBF2):c.3379A>T (p.Ser1127Cys) rs1167884517
NM_030962.4(SBF2):c.3382G>A (p.Gly1128Ser) rs1474699941
NM_030962.4(SBF2):c.3392C>A (p.Ser1131Tyr)
NM_030962.4(SBF2):c.3395G>A (p.Arg1132His)
NM_030962.4(SBF2):c.3428C>T (p.Ser1143Phe) rs2133952172
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile) rs2133937354
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu) rs1233967178
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu) rs1949238558
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr) rs535680998
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu) rs1949238001
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu) rs2133937176
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg) rs762738168
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln) rs376309876
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val) rs781282456
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys) rs1356162033
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg) rs1855445153
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
NM_030962.4(SBF2):c.3652+5G>A rs199502044
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile) rs1439541685
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr) rs759215256
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu) rs2133931845
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp) rs779174513
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg) rs2133931756
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn) rs1855252886
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val) rs1270676073
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu) rs201249004
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly) rs956737183
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu) rs757836523
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro) rs1488414945
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.4(SBF2):c.38A>C (p.Tyr13Ser) rs1591380986
NM_030962.4(SBF2):c.38A>T (p.Tyr13Phe)
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser) rs1429630644
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe) rs1564879807
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys) rs2133911307
NM_030962.4(SBF2):c.3979-4G>T rs375742620
NM_030962.4(SBF2):c.402+11_402+21del
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp) rs2133904474
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro) rs1854252785
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met) rs149501654
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg) rs1854248122
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu) rs1854247198
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys) rs1854246275
NM_030962.4(SBF2):c.4156-15_4156-5del rs745522461
NM_030962.4(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp) rs750353766
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe) rs760329902
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly) rs2133896771
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile) rs1853958713
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp) rs2133896649
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
NM_030962.4(SBF2):c.43C>T (p.His15Tyr) rs1324706227
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu) rs1590130857
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp) rs1853093188
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly) rs141108330
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln) rs1853090043
NM_030962.4(SBF2):c.456G>A (p.Leu152=) rs1949189908
NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)
NM_030962.4(SBF2):c.45C>G (p.His15Gln) rs1964352895
NM_030962.4(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.4(SBF2):c.4664T>G (p.Phe1555Cys) rs1852677610
NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)
NM_030962.4(SBF2):c.4681T>G (p.Ser1561Ala) rs1453584782
NM_030962.4(SBF2):c.4698+6G>A rs1852674371
NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)
NM_030962.4(SBF2):c.4712A>T (p.Asn1571Ile) rs371960255
NM_030962.4(SBF2):c.4735A>C (p.Lys1579Gln) rs2133858789
NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)
NM_030962.4(SBF2):c.4799C>G (p.Thr1600Ser) rs183468503
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)
NM_030962.4(SBF2):c.4840G>A (p.Glu1614Lys) rs1852578314
NM_030962.4(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.4(SBF2):c.4913C>G (p.Ala1638Gly) rs758932167
NM_030962.4(SBF2):c.4919C>A (p.Thr1640Asn) rs1284170057
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu) rs1949187604
NM_030962.4(SBF2):c.4967C>T (p.Ala1656Val) rs139634638
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
NM_030962.4(SBF2):c.5010C>A (p.Asp1670Glu) rs142672124
NM_030962.4(SBF2):c.5016A>G (p.Lys1672=) rs1564852595
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.5024C>G (p.Pro1675Arg) rs1852460091
NM_030962.4(SBF2):c.5030C>T (p.Thr1677Ile) rs760027294
NM_030962.4(SBF2):c.5038-11_5038-8del rs1189608485
NM_030962.4(SBF2):c.5067A>T (p.Gly1689=)
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu) rs1949186665
NM_030962.4(SBF2):c.5077A>T (p.Thr1693Ser) rs935208245
NM_030962.4(SBF2):c.5102G>A (p.Arg1701Lys) rs914679014
NM_030962.4(SBF2):c.513+4A>G rs1554990552
NM_030962.4(SBF2):c.5135G>T (p.Gly1712Val) rs757214892
NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)
NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)
NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys) rs1334739235
NM_030962.4(SBF2):c.5200A>C (p.Ser1734Arg) rs1411871638
NM_030962.4(SBF2):c.5204A>T (p.Gln1735Leu) rs2133849923
NM_030962.4(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.4(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.4(SBF2):c.5213C>G (p.Ser1738Cys) rs2133849900
NM_030962.4(SBF2):c.5249T>C (p.Leu1750Pro) rs1852233208
NM_030962.4(SBF2):c.5258G>A (p.Arg1753Lys) rs1852232500
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.4(SBF2):c.5285C>T (p.Pro1762Leu) rs1051248230
NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)
NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr) rs1852008750
NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)
NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly) rs1852006389
NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu) rs1590068012
NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr) rs1852006110
NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser) rs1852005955
NM_030962.4(SBF2):c.5451+3_5451+6dup rs1428808794
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met) rs1851934295
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg) rs763965438
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs) rs1293444505
NM_030962.4(SBF2):c.555G>C (p.Gln185His) rs1254270693
NM_030962.4(SBF2):c.565C>T (p.His189Tyr) rs1280211892
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn) rs201738577
NM_030962.4(SBF2):c.574C>G (p.Leu192Val) rs1949129969
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg) rs2134626742
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro) rs1949128392
NM_030962.4(SBF2):c.619+6T>A
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg) rs774844294
NM_030962.4(SBF2):c.620-10dup rs1948023557
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr) rs2134513972
NM_030962.4(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
NM_030962.4(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg) rs1947932193
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly) rs928271143
NM_030962.4(SBF2):c.793G>T (p.Val265Phe) rs1655963955
NM_030962.4(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.873_875del (p.Ile292del) rs2134496803
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln) rs781039677
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu) rs1947799030
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)
NM_181882.3(PRX):c.1013C>T (p.Ala338Val) rs1368840723
NM_181882.3(PRX):c.1021G>T (p.Gly341Cys) rs750822167
NM_181882.3(PRX):c.104C>A (p.Ala35Glu) rs138047753
NM_181882.3(PRX):c.104C>T (p.Ala35Val) rs138047753
NM_181882.3(PRX):c.1061C>T (p.Ala354Val) rs2145731516
NM_181882.3(PRX):c.1097G>A (p.Gly366Glu)
NM_181882.3(PRX):c.112G>C (p.Gly38Arg)
NM_181882.3(PRX):c.113G>A (p.Gly38Asp)
NM_181882.3(PRX):c.1141A>C (p.Ser381Arg) rs1049349860
NM_181882.3(PRX):c.1160A>G (p.Lys387Arg) rs1438526620
NM_181882.3(PRX):c.1169G>A (p.Arg390Lys) rs2079447897
NM_181882.3(PRX):c.1177A>G (p.Met393Val) rs2145731286
NM_181882.3(PRX):c.1183A>T (p.Thr395Ser)
NM_181882.3(PRX):c.119A>C (p.Glu40Ala) rs2145741372
NM_181882.3(PRX):c.11G>A (p.Arg4Lys)
NM_181882.3(PRX):c.1228G>A (p.Val410Ile)
NM_181882.3(PRX):c.1283G>C (p.Gly428Ala)
NM_181882.3(PRX):c.130G>C (p.Val44Leu)
NM_181882.3(PRX):c.1324G>A (p.Val442Met)
NM_181882.3(PRX):c.1339G>A (p.Ala447Thr) rs2079445823
NM_181882.3(PRX):c.1345G>A (p.Glu449Lys) rs2145730978
NM_181882.3(PRX):c.134G>C (p.Arg45Pro) rs751441856
NM_181882.3(PRX):c.1369G>C (p.Glu457Gln) rs142064826
NM_181882.3(PRX):c.1373C>T (p.Ala458Val)
NM_181882.3(PRX):c.1400A>G (p.Glu467Gly) rs2079445212
NM_181882.3(PRX):c.1404_1481del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])
NM_181882.3(PRX):c.140T>C (p.Leu47Pro)
NM_181882.3(PRX):c.1450A>G (p.Met484Val) rs1462275457
NM_181882.3(PRX):c.1466T>A (p.Val489Glu) rs1484709871
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.3(PRX):c.1483_1560dup (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[3]) rs1555801137
NM_181882.3(PRX):c.1490C>A (p.Pro497His) rs1167411868
NM_181882.3(PRX):c.1495G>T (p.Val499Leu)
NM_181882.3(PRX):c.1500_1577del (p.Leu523_Leu548del) rs2079442701
NM_181882.3(PRX):c.151T>C (p.Ser51Pro) rs1462393547
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln) rs1035002145
NM_181882.3(PRX):c.1549C>T (p.Leu517Phe) rs2079443162
NM_181882.3(PRX):c.1558G>A (p.Val520Ile) rs2079443099
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
NM_181882.3(PRX):c.1568_1645dup (p.Leu523_Leu548dup)
NM_181882.3(PRX):c.1568_1723del (p.Leu523_Leu574del) rs2079440442
NM_181882.3(PRX):c.1578_1601dup (p.Lys529_Met536dup) rs764208864
NM_181882.3(PRX):c.158C>A (p.Ala53Asp) rs753322071
NM_181882.3(PRX):c.1594_1671dup (p.Lys532_Pro557dup) rs2079441294
NM_181882.3(PRX):c.1613T>C (p.Val538Ala) rs765791679
NM_181882.3(PRX):c.1613T>G (p.Val538Gly)
NM_181882.3(PRX):c.1621G>A (p.Val541Met) rs764542785
NM_181882.3(PRX):c.1627C>T (p.Leu543Phe) rs1370468682
NM_181882.3(PRX):c.1638_1715del (p.Ser552_Val577del) rs2079440653
NM_181882.3(PRX):c.1646C>G (p.Pro549Arg) rs150582069
NM_181882.3(PRX):c.1658A>G (p.Glu553Gly) rs879254301
NM_181882.3(PRX):c.1664A>G (p.Lys555Arg) rs2145730296
NM_181882.3(PRX):c.1666_1743del (p.Leu556_Lys581del) rs1599654291
NM_181882.3(PRX):c.1667T>A (p.Leu556His) rs2079441335
NM_181882.3(PRX):c.1670C>T (p.Pro557Leu) rs1419440307
NM_181882.3(PRX):c.1696G>C (p.Glu566Gln) rs2079440933
NM_181882.3(PRX):c.1708C>G (p.Pro570Ala) rs2145730168
NM_181882.3(PRX):c.1711G>A (p.Glu571Lys)
NM_181882.3(PRX):c.1718A>G (p.Gln573Arg) rs1289149165
NM_181882.3(PRX):c.1722_1723delinsCA (p.Pro575Thr) rs2079440418
NM_181882.3(PRX):c.1724C>T (p.Pro575Leu) rs201829675
NM_181882.3(PRX):c.1750G>C (p.Glu584Gln) rs2079440126
NM_181882.3(PRX):c.1759C>T (p.Leu587Phe) rs773206299
NM_181882.3(PRX):c.1768G>A (p.Val590Met) rs1278199971
NM_181882.3(PRX):c.176T>C (p.Leu59Pro) rs748318191
NM_181882.3(PRX):c.1775A>C (p.Glu592Ala)
NM_181882.3(PRX):c.178C>A (p.Gln60Lys)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.1813C>T (p.Leu605Phe) rs1555801070
NM_181882.3(PRX):c.184G>A (p.Gly62Arg) rs1205438395
NM_181882.3(PRX):c.1859A>G (p.Glu620Gly) rs1395113048
NM_181882.3(PRX):c.1860_2123dup (p.Val714_Cys715insProGluMetLysLeuProGluMetLysLeuProGluValLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysValProGluMetLysLeuProLysMetProGluMetAlaValProGluValArgLeuProGluValGlnLeuProLysValSerGluMetLysLeuProLysValProGluMetAlaValProAspValHisLeuProGluValGlnLeuProLysVal)
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg) rs2079438528
NM_181882.3(PRX):c.1869_1976del (p.Glu633_Pro668del) rs2079436631
NM_181882.3(PRX):c.1887G>T (p.Met629Ile)
NM_181882.3(PRX):c.1898A>T (p.Glu633Val) rs1599654002
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1]) rs575492732
NM_181882.3(PRX):c.1912G>A (p.Glu638Lys) rs2145729705
NM_181882.3(PRX):c.191A>G (p.Gln64Arg)
NM_181882.3(PRX):c.1942G>T (p.Ala648Ser) rs950524654
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.1955T>C (p.Val652Ala) rs963617308
NM_181882.3(PRX):c.1959C>A (p.His653Gln) rs760652185
NM_181882.3(PRX):c.1979C>G (p.Pro660Arg) rs748737580
NM_181882.3(PRX):c.1991A>G (p.Glu664Gly) rs758728503
NM_181882.3(PRX):c.1999C>G (p.Leu667Val) rs1599653741
NM_181882.3(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_181882.3(PRX):c.2028_2213dup (p.Glu677_Pro738dup) rs2145728948
NM_181882.3(PRX):c.2032G>T (p.Val678Phe)
NM_181882.3(PRX):c.2033T>C (p.Val678Ala) rs1568706919
NM_181882.3(PRX):c.2077C>G (p.Leu693Val) rs758696889
NM_181882.3(PRX):c.2107G>C (p.Asp703His) rs756173103
NM_181882.3(PRX):c.2113C>T (p.His705Tyr) rs2079434434
NM_181882.3(PRX):c.2115C>G (p.His705Gln)
NM_181882.3(PRX):c.2120C>G (p.Pro707Arg)
NM_181882.3(PRX):c.2134C>T (p.Pro712Ser) rs1463490551
NM_181882.3(PRX):c.2152A>G (p.Lys718Glu) rs2079433906
NM_181882.3(PRX):c.2158C>T (p.Pro720Ser) rs1599653417
NM_181882.3(PRX):c.2176G>A (p.Glu726Lys)
NM_181882.3(PRX):c.2185C>T (p.Leu729Phe) rs2079433471
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.3(PRX):c.2227C>T (p.Pro743Ser)
NM_181882.3(PRX):c.2243C>G (p.Pro748Arg) rs111252437
NM_181882.3(PRX):c.2245A>G (p.Lys749Glu) rs755014286
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln) rs760071236
NM_181882.3(PRX):c.2261G>T (p.Arg754Leu)
NM_181882.3(PRX):c.227A>G (p.Lys76Arg)
NM_181882.3(PRX):c.2281C>T (p.Pro761Ser) rs1430642282
NM_181882.3(PRX):c.2282C>G (p.Pro761Arg) rs530370432
NM_181882.3(PRX):c.2293G>A (p.Asp765Asn) rs541455813
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2305C>T (p.Pro769Ser)
NM_181882.3(PRX):c.2311G>C (p.Ala771Pro) rs1568706134
NM_181882.3(PRX):c.2312C>T (p.Ala771Val)
NM_181882.3(PRX):c.2317G>C (p.Glu773Gln)
NM_181882.3(PRX):c.2330C>G (p.Pro777Arg) rs2079431092
NM_181882.3(PRX):c.2332A>G (p.Arg778Gly) rs2079431069
NM_181882.3(PRX):c.236A>T (p.Asp79Val) rs2079466924
NM_181882.3(PRX):c.2372_2392del (p.Gln791_Gly798delinsArg)
NM_181882.3(PRX):c.2374G>T (p.Ala792Ser)
NM_181882.3(PRX):c.238G>T (p.Ala80Ser)
NM_181882.3(PRX):c.2399A>G (p.Lys800Arg) rs2145728557
NM_181882.3(PRX):c.2419C>T (p.Pro807Ser)
NM_181882.3(PRX):c.2440T>C (p.Ser814Pro) rs201809431
NM_181882.3(PRX):c.2447C>T (p.Ser816Leu) rs556698543
NM_181882.3(PRX):c.2456A>G (p.Lys819Arg) rs2079429870
NM_181882.3(PRX):c.2485G>C (p.Gly829Arg)
NM_181882.3(PRX):c.248T>G (p.Leu83Arg) rs1599657876
NM_181882.3(PRX):c.2509C>G (p.Leu837Val)
NM_181882.3(PRX):c.2582T>G (p.Leu861Arg) rs1192034174
NM_181882.3(PRX):c.2599C>A (p.Leu867Met) rs2079428174
NM_181882.3(PRX):c.2605G>A (p.Gly869Arg) rs1555800819
NM_181882.3(PRX):c.2630G>T (p.Gly877Val)
NM_181882.3(PRX):c.2641C>T (p.Arg881Trp) rs375201649
NM_181882.3(PRX):c.2645_2646inv (p.Val882Ala)
NM_181882.3(PRX):c.2651G>A (p.Gly884Asp) rs139005780
NM_181882.3(PRX):c.2666C>A (p.Ala889Glu) rs2145728054
NM_181882.3(PRX):c.2672T>G (p.Val891Gly)
NM_181882.3(PRX):c.2728G>C (p.Ala910Pro) rs145203783
NM_181882.3(PRX):c.2744A>T (p.Glu915Val) rs899773763
NM_181882.3(PRX):c.2750G>A (p.Arg917Gln)
NM_181882.3(PRX):c.2801C>T (p.Pro934Leu)
NM_181882.3(PRX):c.2810G>T (p.Gly937Val)
NM_181882.3(PRX):c.2816C>G (p.Ser939Trp) rs761769929
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.2827G>A (p.Val943Met) rs1255146621
NM_181882.3(PRX):c.2843C>G (p.Ala948Gly) rs2079424981
NM_181882.3(PRX):c.2854G>C (p.Gly952Arg) rs1060502972
NM_181882.3(PRX):c.2876T>C (p.Val959Ala) rs1568704784
NM_181882.3(PRX):c.2888C>T (p.Ala963Val) rs1187783058
NM_181882.3(PRX):c.2905G>C (p.Ala969Pro)
NM_181882.3(PRX):c.2921_2941del (p.Glu974_Ala980del) rs748965299
NM_181882.3(PRX):c.2939C>A (p.Ala980Asp) rs2079423739
NM_181882.3(PRX):c.2942G>A (p.Gly981Glu) rs1568704659
NM_181882.3(PRX):c.2942G>T (p.Gly981Val) rs1568704659
NM_181882.3(PRX):c.2960C>T (p.Pro987Leu)
NM_181882.3(PRX):c.296C>T (p.Thr99Ile) rs561203828
NM_181882.3(PRX):c.2977A>T (p.Ile993Phe) rs1234629496
NM_181882.3(PRX):c.2986C>T (p.Leu996Phe)
NM_181882.3(PRX):c.2995G>C (p.Asp999His)
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3028G>A (p.Ala1010Thr) rs2079422267
NM_181882.3(PRX):c.302C>T (p.Pro101Leu) rs1202652443
NM_181882.3(PRX):c.3050A>C (p.Lys1017Thr) rs538922683
NM_181882.3(PRX):c.311A>T (p.Asp104Val)
NM_181882.3(PRX):c.3130G>A (p.Glu1044Lys)
NM_181882.3(PRX):c.3142_3147del (p.Lys1048_Gly1049del) rs764547883
NM_181882.3(PRX):c.3154T>C (p.Trp1052Arg)
NM_181882.3(PRX):c.317C>T (p.Ala106Val) rs2145734161
NM_181882.3(PRX):c.3190C>G (p.Pro1064Ala) rs937051533
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.320T>G (p.Leu107Arg)
NM_181882.3(PRX):c.3247_3248delinsTG (p.Pro1083Trp) rs2079419662
NM_181882.3(PRX):c.3254A>G (p.Glu1085Gly)
NM_181882.3(PRX):c.3257A>G (p.Lys1086Arg)
NM_181882.3(PRX):c.3258G>T (p.Lys1086Asn)
NM_181882.3(PRX):c.3263A>G (p.Glu1088Gly) rs758071572
NM_181882.3(PRX):c.3268A>C (p.Thr1090Pro)
NM_181882.3(PRX):c.3272C>T (p.Ala1091Val) rs2145726879
NM_181882.3(PRX):c.3280C>T (p.Leu1094Phe) rs2079418891
NM_181882.3(PRX):c.329G>A (p.Gly110Glu) rs1309370142
NM_181882.3(PRX):c.3302T>C (p.Leu1101Pro)
NM_181882.3(PRX):c.3314G>C (p.Gly1105Ala)
NM_181882.3(PRX):c.3341G>T (p.Gly1114Val) rs772043027
NM_181882.3(PRX):c.334G>A (p.Val112Met) rs1374240096
NM_181882.3(PRX):c.3351_3352delinsTA (p.Val1118Ile) rs2145726691
NM_181882.3(PRX):c.3352G>T (p.Val1118Phe) rs143654708
NM_181882.3(PRX):c.3365A>G (p.Gln1122Arg) rs1287415463
NM_181882.3(PRX):c.3389C>G (p.Thr1130Arg) rs2079417291
NM_181882.3(PRX):c.3400G>T (p.Val1134Leu) rs786204203
NM_181882.3(PRX):c.3418G>A (p.Asp1140Asn) rs1599651064
NM_181882.3(PRX):c.3447C>T (p.Gly1149=) rs1599651000
NM_181882.3(PRX):c.344A>G (p.Tyr115Cys) rs759570608
NM_181882.3(PRX):c.3462G>C (p.Gln1154His) rs374969898
NM_181882.3(PRX):c.3472A>C (p.Thr1158Pro)
NM_181882.3(PRX):c.3475G>C (p.Gly1159Arg)
NM_181882.3(PRX):c.3482G>A (p.Gly1161Glu)
NM_181882.3(PRX):c.3494C>T (p.Thr1165Ile) rs2079415753
NM_181882.3(PRX):c.3527CAG[1] (p.Ala1177del) rs765351391
NM_181882.3(PRX):c.3536G>A (p.Gly1179Asp) rs1306056577
NM_181882.3(PRX):c.3537C>T (p.Gly1179=) rs2079415063
NM_181882.3(PRX):c.3562C>T (p.Pro1188Ser) rs878855284
NM_181882.3(PRX):c.3595G>C (p.Val1199Leu) rs2145726058
NM_181882.3(PRX):c.35G>C (p.Arg12Thr)
NM_181882.3(PRX):c.3626G>C (p.Gly1209Ala)
NM_181882.3(PRX):c.3626dup (p.Val1210fs)
NM_181882.3(PRX):c.3637A>T (p.Met1213Leu)
NM_181882.3(PRX):c.370G>A (p.Val124Met) rs2079464852
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp) rs139120811
NM_181882.3(PRX):c.3737A>G (p.Lys1246Arg) rs2079412467
NM_181882.3(PRX):c.3770G>T (p.Gly1257Val) rs1424142560
NM_181882.3(PRX):c.3785A>G (p.Glu1262Gly) rs2145725692
NM_181882.3(PRX):c.3802G>A (p.Ala1268Thr) rs146061247
NM_181882.3(PRX):c.3835G>C (p.Val1279Leu) rs747247972
NM_181882.3(PRX):c.3859A>C (p.Asn1287His) rs2145725536
NM_181882.3(PRX):c.3863A>T (p.His1288Leu) rs1568702462
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys) rs773955274
NM_181882.3(PRX):c.3868G>T (p.Glu1290Ter) rs773955274
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3890A>G (p.Glu1297Gly) rs2049353803
NM_181882.3(PRX):c.3916G>A (p.Val1306Ile)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.3935G>T (p.Gly1312Val) rs764644013
NM_181882.3(PRX):c.3961G>A (p.Glu1321Lys) rs748063094
NM_181882.3(PRX):c.3985C>A (p.Pro1329Thr) rs1337046069
NM_181882.3(PRX):c.4004G>A (p.Arg1335Gln) rs1384489319
NM_181882.3(PRX):c.4028T>C (p.Met1343Thr)
NM_181882.3(PRX):c.4030G>A (p.Val1344Ile) rs2079407989
NM_181882.3(PRX):c.4048C>T (p.Pro1350Ser)
NM_181882.3(PRX):c.4050del (p.Ser1351fs) rs766124869
NM_181882.3(PRX):c.4058A>C (p.Glu1353Ala) rs1555800424
NM_181882.3(PRX):c.4059GGA[4] (p.Glu1359_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[9] (p.Glu1360_Glu1361dup) rs139624657
NM_181882.3(PRX):c.406A>G (p.Lys136Glu) rs2079459199
NM_181882.3(PRX):c.407AGA[3] (p.Lys139del) rs778666575
NM_181882.3(PRX):c.4088G>A (p.Ser1363Asn) rs1197436795
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4099dup (p.Ala1367fs) rs768199280
NM_181882.3(PRX):c.4102_4117del (p.Ser1368fs) rs1487409170
NM_181882.3(PRX):c.4108C>A (p.Arg1370Ser) rs371438221
NM_181882.3(PRX):c.4108C>T (p.Arg1370Cys) rs371438221
NM_181882.3(PRX):c.4109GCCGGG[3] (p.Arg1373_Val1374insGlyArg)
NM_181882.3(PRX):c.4119GGTCCG[3] (p.1374VR[3]) rs748943829
NM_181882.3(PRX):c.4123C>T (p.Arg1375Trp) rs1049231899
NM_181882.3(PRX):c.4124G>T (p.Arg1375Leu)
NM_181882.3(PRX):c.4169C>G (p.Ser1390Cys)
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.3(PRX):c.4171C>T (p.Arg1391Trp) rs369072136
NM_181882.3(PRX):c.4172G>C (p.Arg1391Pro) rs917161355
NM_181882.3(PRX):c.4183G>A (p.Gly1395Ser)
NM_181882.3(PRX):c.4185C>T (p.Gly1395=)
NM_181882.3(PRX):c.4196C>T (p.Pro1399Leu) rs764183288
NM_181882.3(PRX):c.4205_4206dup (p.Val1403fs)
NM_181882.3(PRX):c.4207G>A (p.Val1403Ile) rs139051512
NM_181882.3(PRX):c.4217_4218insTGATGCAGCCCCCAAGTCCCCCGTCAGAGAGAA (p.Glu1405_Lys1406insAsnAspAlaAlaProLysSerProValArgGlu)
NM_181882.3(PRX):c.4232G>A (p.Arg1411His) rs1005254872
NM_181882.3(PRX):c.4240A>G (p.Arg1414Gly) rs2145724711
NM_181882.3(PRX):c.4253G>A (p.Ser1418Asn) rs375802521
NM_181882.3(PRX):c.4267A>C (p.Ser1423Arg) rs895345246
NM_181882.3(PRX):c.4268G>A (p.Ser1423Asn) rs2145724650
NM_181882.3(PRX):c.4270G>A (p.Gly1424Arg) rs754032938
NM_181882.3(PRX):c.4285G>A (p.Glu1429Lys) rs2145724616
NM_181882.3(PRX):c.4288G>T (p.Glu1430Ter)
NM_181882.3(PRX):c.4300C>T (p.Arg1434Trp)
NM_181882.3(PRX):c.4304T>C (p.Val1435Ala) rs878855285
NM_181882.3(PRX):c.4306C>T (p.Arg1436Trp) rs1332674327
NM_181882.3(PRX):c.4316G>T (p.Ser1439Ile) rs2079403599
NM_181882.3(PRX):c.4317C>A (p.Ser1439Arg) rs372280596
NM_181882.3(PRX):c.4333A>T (p.Thr1445Ser) rs368067072
NM_181882.3(PRX):c.4343C>T (p.Pro1448Leu)
NM_181882.3(PRX):c.439G>A (p.Val147Ile)
NM_181882.3(PRX):c.461T>C (p.Val154Ala) rs1555801518
NM_181882.3(PRX):c.464A>T (p.Asp155Val) rs2079458431
NM_181882.3(PRX):c.466G>T (p.Val156Phe) rs562267802
NM_181882.3(PRX):c.469G>A (p.Glu157Lys) rs149219327
NM_181882.3(PRX):c.478_492del (p.Phe160_Ser164del) rs1555801508
NM_181882.3(PRX):c.479T>C (p.Phe160Ser) rs2079458015
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.509T>C (p.Leu170Pro) rs1387520113
NM_181882.3(PRX):c.551C>G (p.Ala184Gly) rs951064135
NM_181882.3(PRX):c.560G>A (p.Arg187His)
NM_181882.3(PRX):c.586C>G (p.Arg196Gly) rs104894706
NM_181882.3(PRX):c.587G>A (p.Arg196Gln) rs757381967
NM_181882.3(PRX):c.587G>C (p.Arg196Pro) rs757381967
NM_181882.3(PRX):c.598G>C (p.Glu200Gln) rs767207935
NM_181882.3(PRX):c.604G>T (p.Ala202Ser) rs759241041
NM_181882.3(PRX):c.615_616delinsTT (p.Arg206Trp) rs1568709522
NM_181882.3(PRX):c.616C>T (p.Arg206Trp)
NM_181882.3(PRX):c.631G>A (p.Ala211Thr) rs112973322
NM_181882.3(PRX):c.631G>T (p.Ala211Ser) rs112973322
NM_181882.3(PRX):c.641C>A (p.Pro214His) rs368874138
NM_181882.3(PRX):c.655G>A (p.Val219Met)
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.700G>A (p.Val234Met)
NM_181882.3(PRX):c.703G>A (p.Glu235Lys) rs2079454238
NM_181882.3(PRX):c.705G>T (p.Glu235Asp) rs2079454196
NM_181882.3(PRX):c.730G>A (p.Ala244Thr) rs771211272
NM_181882.3(PRX):c.730G>T (p.Ala244Ser) rs771211272
NM_181882.3(PRX):c.731C>A (p.Ala244Glu) rs118071705
NM_181882.3(PRX):c.740G>A (p.Gly247Asp) rs1568709200
NM_181882.3(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_181882.3(PRX):c.761C>T (p.Pro254Leu) rs748153822
NM_181882.3(PRX):c.773C>A (p.Pro258His) rs2079453076
NM_181882.3(PRX):c.800C>T (p.Ala267Val) rs1030892757
NM_181882.3(PRX):c.805C>T (p.His269Tyr)
NM_181882.3(PRX):c.821G>A (p.Gly274Glu) rs2145732081
NM_181882.3(PRX):c.829G>T (p.Ala277Ser) rs1458620221
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762
NM_181882.3(PRX):c.847G>T (p.Val283Leu)
NM_181882.3(PRX):c.862G>C (p.Val288Leu) rs568618329
NM_181882.3(PRX):c.886G>A (p.Glu296Lys) rs2079451469
NM_181882.3(PRX):c.904T>C (p.Ser302Pro)
NM_181882.3(PRX):c.914C>T (p.Thr305Ile)
NM_181882.3(PRX):c.917T>C (p.Leu306Pro)
NM_181882.3(PRX):c.925C>A (p.Leu309Ile)
NM_181882.3(PRX):c.946G>C (p.Glu316Gln) rs1555801306
NM_181882.3(PRX):c.956T>G (p.Val319Gly)
NM_181882.3(PRX):c.985G>A (p.Ala329Thr) rs745593860

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