ClinVar Miner

List of variants in gene CDON studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn) rs684535 0.74435
NM_001378964.1(CDON):c.223G>A (p.Val75Ile) rs3740912 0.64193
NM_001378964.1(CDON):c.*2740T>C rs2186754 0.49995
NM_001378964.1(CDON):c.*2830A>G rs1065398 0.49008
NM_016952.4(CDON):c.*4135C>T rs4937076 0.48573
NM_001378964.1(CDON):c.3294G>A (p.Thr1098=) rs3740904 0.37090
NM_001378964.1(CDON):c.2037G>A (p.Ala679=) rs516664 0.34680
NM_001378964.1(CDON):c.3165T>C (p.Asn1055=) rs564214 0.32369
NM_001378964.1(CDON):c.3039C>T (p.Asn1013=) rs684805 0.31531
NM_001378964.1(CDON):c.*3884T>G rs13424 0.29239
NM_001378964.1(CDON):c.*4052C>T rs3039 0.25442
NM_001378964.1(CDON):c.*140A>G rs3737336 0.25130
NM_001378964.1(CDON):c.3549C>T (p.Val1183=) rs2276061 0.25099
NM_001378964.1(CDON):c.*3490T>C rs11220285 0.20329
NM_001378964.1(CDON):c.*3765C>T rs1047070 0.20261
NM_001378964.1(CDON):c.2057C>T (p.Ala686Val) rs12274923 0.16080
NM_016952.4(CDON):c.-131G>A rs79446614 0.15824
NM_001378964.1(CDON):c.*2377T>C rs582224 0.15279
NM_001378964.1(CDON):c.350-13T>C rs3740910 0.10340
NM_001378964.1(CDON):c.484G>A (p.Glu162Lys) rs3740909 0.10334
NM_001378964.1(CDON):c.640+12G>A rs4426144 0.10328
NM_001378964.1(CDON):c.*2379T>C rs562083604 0.08788
NM_001378964.1(CDON):c.*1332T>G rs77555036 0.06389
NM_001378964.1(CDON):c.*278T>C rs73628538 0.05323
NM_001378964.1(CDON):c.*3862G>T rs73019367 0.03885
NM_001378964.1(CDON):c.330T>C (p.Pro110=) rs35131477 0.03518
NM_001378964.1(CDON):c.*3076T>A rs73019370 0.02663
NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile) rs78304400 0.02598
NM_001378964.1(CDON):c.-57C>T rs11829014 0.02582
NM_001378964.1(CDON):c.-51A>C rs11822173 0.02579
NM_001378964.1(CDON):c.197A>G (p.Lys66Arg) rs7122277 0.02566
NM_001378964.1(CDON):c.*4080G>A rs79685272 0.02502
NM_001378964.1(CDON):c.*3830G>A rs116746244 0.02483
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr) rs76247998 0.02319
NM_001378964.1(CDON):c.*2734G>A rs12294405 0.02212
NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly) rs115533243 0.02079
NM_001378964.1(CDON):c.*2097G>A rs76179044 0.01826
NM_001378964.1(CDON):c.*2717C>T rs12294553 0.01820
NM_001378964.1(CDON):c.1671G>A (p.Lys557=) rs35884952 0.01761
NM_001378964.1(CDON):c.1296G>A (p.Pro432=) rs11220313 0.01713
NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala) rs35665264 0.01595
NM_001378964.1(CDON):c.9G>A (p.Pro3=) rs113593771 0.00955
NM_001378964.1(CDON):c.*3628C>G rs140783947 0.00931
NM_001378964.1(CDON):c.*3972C>G rs142923654 0.00828
NM_001378964.1(CDON):c.*3514A>G rs77815115 0.00819
NM_001378964.1(CDON):c.*1671G>A rs7940762 0.00691
NM_001378964.1(CDON):c.*3424T>C rs147791703 0.00689
NM_001378964.1(CDON):c.*3777G>A rs74527873 0.00675
NM_001378964.1(CDON):c.3559C>T (p.Arg1187Cys) rs150174788 0.00647
NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser) rs145983470 0.00624
NM_001378964.1(CDON):c.3588C>T (p.Asp1196=) rs140895899 0.00553
NM_001378964.1(CDON):c.*1061T>C rs114455813 0.00548
NM_001378964.1(CDON):c.*2992T>C rs116579152 0.00490
NM_001378964.1(CDON):c.2392A>G (p.Ile798Val) rs142919781 0.00466
NM_001378964.1(CDON):c.*3409T>G rs141160538 0.00465
NM_001378964.1(CDON):c.*2749C>G rs76176354 0.00408
NM_001378964.1(CDON):c.*3919T>C rs61917811 0.00390
NM_001378964.1(CDON):c.2923G>A (p.Val975Ile) rs113921147 0.00303
NM_001378964.1(CDON):c.*3176C>G rs187258536 0.00283
NM_001378964.1(CDON):c.1818G>T (p.Leu606=) rs147925363 0.00262
NM_001378964.1(CDON):c.*3141A>G rs191432564 0.00257
NM_001378964.1(CDON):c.*696T>C rs566390376 0.00243
NM_001378964.1(CDON):c.*12C>T rs200595011 0.00242
NM_001378964.1(CDON):c.*167A>G rs141225852 0.00231
NM_001378964.1(CDON):c.1500C>T (p.Cys500=) rs142388716 0.00220
NM_001378964.1(CDON):c.1310G>A (p.Arg437His) rs114866803 0.00203
NM_001378964.1(CDON):c.*916G>A rs79576369 0.00202
NM_001378964.1(CDON):c.*2291T>C rs192250689 0.00191
NM_001378964.1(CDON):c.*4000C>T rs79719160 0.00162
NM_001378964.1(CDON):c.*2573G>A rs115327518 0.00151
NM_001378964.1(CDON):c.2279G>A (p.Arg760Gln) rs150587299 0.00139
NM_001378964.1(CDON):c.*1661C>T rs192397582 0.00122
NM_001378964.1(CDON):c.*609dup rs111312273 0.00116
NM_001378964.1(CDON):c.2462G>A (p.Arg821His) rs146660717 0.00102
NM_001378964.1(CDON):c.*689C>T rs550032814 0.00090
NM_001378964.1(CDON):c.-48G>A rs374433009 0.00085
NM_001378964.1(CDON):c.*2730A>G rs531873614 0.00078
NM_001378964.1(CDON):c.*1216G>A rs757413144 0.00073
NM_001378964.1(CDON):c.*2375C>T rs12296046 0.00073
NM_001378964.1(CDON):c.350-11A>G rs199981607 0.00072
NM_001378964.1(CDON):c.*1805A>G rs574337524 0.00071
NM_001378964.1(CDON):c.2139T>C (p.Asp713=) rs144874246 0.00066
NM_001378964.1(CDON):c.*2264C>T rs185017679 0.00065
NM_001378964.1(CDON):c.*2024C>T rs148239384 0.00059
NM_001378964.1(CDON):c.1263T>C (p.Phe421=) rs191544852 0.00056
NM_001378964.1(CDON):c.1855G>C (p.Asp619His) rs141081456 0.00056
NM_001378964.1(CDON):c.*1816C>T rs776338493 0.00047
NM_001378964.1(CDON):c.3726A>C (p.Thr1242=) rs139588649 0.00046
NM_001378964.1(CDON):c.*864G>A rs144806373 0.00045
NM_001378964.1(CDON):c.350-19G>A rs189909997 0.00042
NM_001378964.1(CDON):c.2535A>G (p.Leu845=) rs149843751 0.00041
NM_001378964.1(CDON):c.726G>A (p.Glu242=) rs142667570 0.00040
NM_001378964.1(CDON):c.3631+9G>A rs189386496 0.00039
NM_001378964.1(CDON):c.1041C>T (p.His347=) rs201963480 0.00031
NM_001378964.1(CDON):c.1426G>A (p.Val476Ile) rs142603462 0.00030
NM_001378964.1(CDON):c.77-11T>C rs200967203 0.00029
NM_001378964.1(CDON):c.1089C>T (p.Asn363=) rs141744145 0.00028
NM_001378964.1(CDON):c.*215C>T rs879027869 0.00021
NM_001378964.1(CDON):c.1940C>T (p.Pro647Leu) rs200961603 0.00021
NM_001378964.1(CDON):c.3706G>A (p.Glu1236Lys) rs373765094 0.00021
NM_001378964.1(CDON):c.1025A>G (p.Asn342Ser) rs140975280 0.00020
NM_001378964.1(CDON):c.*1572A>G rs367911589 0.00019
NM_001378964.1(CDON):c.3190A>G (p.Ser1064Gly) rs143111106 0.00019
NM_001378964.1(CDON):c.3276+1G>T rs374564199 0.00018
NM_001378964.1(CDON):c.*2705C>T rs549903425 0.00016
NM_001378964.1(CDON):c.2432G>A (p.Arg811His) rs200008378 0.00016
NM_001378964.1(CDON):c.3754G>C (p.Asp1252His) rs150974313 0.00016
NM_001378964.1(CDON):c.1302G>A (p.Pro434=) rs375157917 0.00014
NM_001378964.1(CDON):c.1826A>G (p.Asn609Ser) rs756054017 0.00014
NM_001378964.1(CDON):c.3099C>T (p.His1033=) rs202230295 0.00014
NM_001378964.1(CDON):c.3120C>T (p.Gly1040=) rs200405251 0.00014
NM_001378964.1(CDON):c.791C>A (p.Pro264Gln) rs140542787 0.00012
NM_001378964.1(CDON):c.*3522_*3523del rs886047944 0.00011
NM_001378964.1(CDON):c.*354G>A rs1043985189 0.00011
NM_001378964.1(CDON):c.305G>A (p.Ser102Asn) rs752178829 0.00011
NM_001378964.1(CDON):c.3459T>C (p.Ser1153=) rs186048531 0.00010
NM_001378964.1(CDON):c.*1736C>T rs886047966 0.00009
NM_001378964.1(CDON):c.*369G>A rs147808410 0.00009
NM_001378964.1(CDON):c.1414C>G (p.Pro472Ala) rs750020763 0.00009
NM_001378964.1(CDON):c.3191G>A (p.Ser1064Asn) rs113558382 0.00009
NM_001378964.1(CDON):c.3602G>A (p.Gly1201Asp) rs200042535 0.00009
NM_001378964.1(CDON):c.2268C>T (p.Val756=) rs756370097 0.00008
NM_001378964.1(CDON):c.76+16G>A rs769492160 0.00008
NM_001378964.1(CDON):c.*911T>C rs369720108 0.00007
NM_001378964.1(CDON):c.2624G>A (p.Ser875Asn) rs770564593 0.00007
NM_001378964.1(CDON):c.*2373C>T rs371492744 0.00006
NM_001378964.1(CDON):c.*3060C>T rs1045261392 0.00006
NM_001378964.1(CDON):c.*712C>T rs941322486 0.00006
NM_001378964.1(CDON):c.1069C>A (p.Arg357=) rs200614048 0.00006
NM_001378964.1(CDON):c.1847G>A (p.Arg616Gln) rs144938780 0.00006
NM_001378964.1(CDON):c.2770A>G (p.Lys924Glu) rs747965171 0.00006
NM_001378964.1(CDON):c.2836T>C (p.Leu946=) rs144054280 0.00006
NM_001378964.1(CDON):c.309C>T (p.Ile103=) rs369898224 0.00006
NM_001378964.1(CDON):c.349+3G>A rs776591632 0.00006
NM_001378964.1(CDON):c.3574G>A (p.Asp1192Asn) rs181749265 0.00006
NM_001378964.1(CDON):c.*3294A>G rs531690322 0.00005
NM_001378964.1(CDON):c.1906A>G (p.Ser636Gly) rs758389908 0.00005
NM_001378964.1(CDON):c.2149C>T (p.His717Tyr) rs771993207 0.00005
NM_001378964.1(CDON):c.*1062C>T rs181601254 0.00004
NM_001378964.1(CDON):c.*1151C>T rs780047854 0.00004
NM_001378964.1(CDON):c.*1307T>G rs539481575 0.00004
NM_001378964.1(CDON):c.*1327T>G rs886047971 0.00004
NM_001378964.1(CDON):c.*1745A>G rs886047965 0.00004
NM_001378964.1(CDON):c.*293A>G rs1455784879 0.00004
NM_001378964.1(CDON):c.*3235G>A rs907381947 0.00004
NM_001378964.1(CDON):c.*589C>T rs565527208 0.00004
NM_001378964.1(CDON):c.1254C>T (p.Asp418=) rs144423020 0.00004
NM_001378964.1(CDON):c.1501G>A (p.Glu501Lys) rs761054118 0.00004
NM_001378964.1(CDON):c.1889C>T (p.Thr630Met) rs559379897 0.00004
NM_001378964.1(CDON):c.1977C>T (p.Ser659=) rs563267429 0.00004
NM_001378964.1(CDON):c.2026+15C>T rs143813933 0.00004
NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser) rs768131084 0.00004
NM_001378964.1(CDON):c.2761T>C (p.Cys921Arg) rs763031665 0.00004
NM_001378964.1(CDON):c.2859G>T (p.Gly953=) rs139149075 0.00004
NM_001378964.1(CDON):c.3213C>T (p.Ser1071=) rs768648215 0.00004
NM_001378964.1(CDON):c.3576C>T (p.Asp1192=) rs200023158 0.00004
NM_001378964.1(CDON):c.3631+10G>A rs771408542 0.00004
NM_001378964.1(CDON):c.846G>A (p.Pro282=) rs780286345 0.00004
NM_001378964.1(CDON):c.999C>T (p.Cys333=) rs201493965 0.00004
NM_001378964.1(CDON):c.*1834G>A rs947313022 0.00003
NM_001378964.1(CDON):c.*2755A>G rs188024207 0.00003
NM_001378964.1(CDON):c.*2769G>A rs886047949 0.00003
NM_001378964.1(CDON):c.*2933C>T rs577809378 0.00003
NM_001378964.1(CDON):c.*3221A>G rs539903009 0.00003
NM_001378964.1(CDON):c.1664C>T (p.Pro555Leu) rs143213791 0.00003
NM_001378964.1(CDON):c.1741A>G (p.Ile581Val) rs141782811 0.00003
NM_001378964.1(CDON):c.2159-8G>A rs759480175 0.00003
NM_001378964.1(CDON):c.2239G>A (p.Gly747Arg) rs745363657 0.00003
NM_001378964.1(CDON):c.2763C>T (p.Cys921=) rs146413034 0.00003
NM_001378964.1(CDON):c.*1589G>A rs867218141 0.00002
NM_001378964.1(CDON):c.*2057G>A rs893725040 0.00002
NM_001378964.1(CDON):c.*3210A>G rs886047946 0.00002
NM_001378964.1(CDON):c.*3481C>T rs886047945 0.00002
NM_001378964.1(CDON):c.*3916G>A rs886047942 0.00002
NM_001378964.1(CDON):c.1255G>A (p.Gly419Arg) rs760225821 0.00002
NM_001378964.1(CDON):c.2159-14G>A rs752818698 0.00002
NM_001378964.1(CDON):c.2205A>G (p.Thr735=) rs1264067811 0.00002
NM_001378964.1(CDON):c.3130A>G (p.Ser1044Gly) rs374738066 0.00002
NM_001378964.1(CDON):c.3710G>T (p.Gly1237Val) rs777179648 0.00002
NM_001378964.1(CDON):c.371C>T (p.Ser124Phe) rs572238103 0.00002
NM_001378964.1(CDON):c.3784C>T (p.Arg1262Trp) rs189599953 0.00002
NM_001378964.1(CDON):c.469C>T (p.Arg157Trp) rs760795607 0.00002
NM_001378964.1(CDON):c.7C>T (p.Pro3Ser) rs771518021 0.00002
NM_001378964.1(CDON):c.*1016C>T rs545234191 0.00001
NM_001378964.1(CDON):c.*136T>C rs1945620615 0.00001
NM_001378964.1(CDON):c.*1803C>T rs886047963 0.00001
NM_001378964.1(CDON):c.*2101A>G rs886047962 0.00001
NM_001378964.1(CDON):c.*2640A>G rs886047951 0.00001
NM_001378964.1(CDON):c.*3655T>C rs1042404589 0.00001
NM_001378964.1(CDON):c.*4007G>A rs1945502699 0.00001
NM_001378964.1(CDON):c.*4063G>T rs1230287167 0.00001
NM_001378964.1(CDON):c.*601T>A rs549303080 0.00001
NM_001378964.1(CDON):c.*863C>T rs886047974 0.00001
NM_001378964.1(CDON):c.-21T>C rs771919275 0.00001
NM_001378964.1(CDON):c.1057C>T (p.His353Tyr) rs772141487 0.00001
NM_001378964.1(CDON):c.108C>T (p.Leu36=) rs1358831879 0.00001
NM_001378964.1(CDON):c.1102A>G (p.Ser368Gly) rs373285253 0.00001
NM_001378964.1(CDON):c.1198+15C>T rs371220251 0.00001
NM_001378964.1(CDON):c.1364C>T (p.Ser455Leu) rs187095965 0.00001
NM_001378964.1(CDON):c.1665G>A (p.Pro555=) rs537471531 0.00001
NM_001378964.1(CDON):c.1699C>T (p.Pro567Ser) rs748787756 0.00001
NM_001378964.1(CDON):c.1819C>T (p.Pro607Ser) rs1947104519 0.00001
NM_001378964.1(CDON):c.1951T>C (p.Tyr651His) rs372079041 0.00001
NM_001378964.1(CDON):c.1978G>A (p.Ala660Thr) rs773419494 0.00001
NM_001378964.1(CDON):c.2230C>T (p.Arg744Trp) rs953453508 0.00001
NM_001378964.1(CDON):c.2238del (p.Asn746fs) rs1171605734 0.00001
NM_001378964.1(CDON):c.2363-5_2363-4del rs763168972 0.00001
NM_001378964.1(CDON):c.2543C>T (p.Thr848Met) rs753364775 0.00001
NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg) rs369673018 0.00001
NM_001378964.1(CDON):c.3040G>A (p.Gly1014Arg) rs371732066 0.00001
NM_001378964.1(CDON):c.3156G>A (p.Lys1052=) rs758026817 0.00001
NM_001378964.1(CDON):c.3297C>T (p.Ala1099=) rs770868175 0.00001
NM_001378964.1(CDON):c.350-9A>G rs367564964 0.00001
NM_001378964.1(CDON):c.3776A>T (p.Gln1259Leu) rs1461029725 0.00001
NM_001378964.1(CDON):c.620G>A (p.Gly207Asp) rs756395737 0.00001
NM_001378964.1(CDON):c.881A>G (p.Asn294Ser) rs749949944 0.00001
NM_001378964.1(CDON):c.94A>G (p.Thr32Ala) rs886047978 0.00001
NM_001378964.1(CDON):c.*1211A>G rs886047973
NM_001378964.1(CDON):c.*1310dup rs886047972
NM_001378964.1(CDON):c.*1311GTTT[2] rs567351832
NM_001378964.1(CDON):c.*1429C>T rs886047970
NM_001378964.1(CDON):c.*1457G>A rs141994408
NM_001378964.1(CDON):c.*1506dup rs886047969
NM_001378964.1(CDON):c.*1508A>G rs886047968
NM_001378964.1(CDON):c.*1517G>T rs886047967
NM_001378964.1(CDON):c.*1800A>G rs886047964
NM_001378964.1(CDON):c.*1874G>T rs1945569001
NM_001378964.1(CDON):c.*1933A>G rs2509616
NM_001378964.1(CDON):c.*2003C>G rs73019373
NM_001378964.1(CDON):c.*2195G>A rs886047961
NM_001378964.1(CDON):c.*2283_*2285del rs879891676
NM_001378964.1(CDON):c.*2339T>A rs1012078514
NM_001378964.1(CDON):c.*2345T>A rs58251767
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACAC rs886047960
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACACAC rs886047960
NM_001378964.1(CDON):c.*2347T>C rs58515733
NM_001378964.1(CDON):c.*2349A>C rs61917812
NM_001378964.1(CDON):c.*2351CA[12] rs35654681
NM_001378964.1(CDON):c.*2351CA[14] rs35654681
NM_001378964.1(CDON):c.*2351CA[16] rs35654681
NM_001378964.1(CDON):c.*2351CA[17] rs35654681
NM_001378964.1(CDON):c.*2373_*2378del rs886047957
NM_001378964.1(CDON):c.*2376AC[2]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[2]AT[3]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[3]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[3]AT[3]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[4]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[4]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[5]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[5]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[6]ATA[1] rs371911236
NM_001378964.1(CDON):c.*2376AC[8]AT[2]A[1] rs371911236
NM_001378964.1(CDON):c.*2376_*2377insCATA rs371911236
NM_001378964.1(CDON):c.*2376_*2377insCATATA rs371911236
NM_001378964.1(CDON):c.*2377TA[10] rs140500280
NM_001378964.1(CDON):c.*2377TA[12] rs140500280
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACAC rs886047956
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACACACAC rs886047956
NM_001378964.1(CDON):c.*2377delinsCACACACACACACAC rs886047958
NM_001378964.1(CDON):c.*2377delinsCACACACACACACACAC rs886047958
NM_001378964.1(CDON):c.*2378_*2379insCA rs886047955
NM_001378964.1(CDON):c.*2379CA[3] rs886047955
NM_001378964.1(CDON):c.*2379CA[6] rs886047955
NM_001378964.1(CDON):c.*2380_*2381insCA rs886047954
NM_001378964.1(CDON):c.*2380_*2381insCACA rs886047954
NM_001378964.1(CDON):c.*2381CA[3] rs886047954
NM_001378964.1(CDON):c.*2381CA[5] rs886047954
NM_001378964.1(CDON):c.*249G>A rs886047975
NM_001378964.1(CDON):c.*2580G>C rs886047952
NM_001378964.1(CDON):c.*2698T>C rs886047950
NM_001378964.1(CDON):c.*2760A>G rs1945536687
NM_001378964.1(CDON):c.*2847G>T rs977950622
NM_001378964.1(CDON):c.*2999C>T rs1945529006
NM_001378964.1(CDON):c.*3104T>C rs886047948
NM_001378964.1(CDON):c.*3133A>T rs886047947
NM_001378964.1(CDON):c.*3269G>C rs894728448
NM_001378964.1(CDON):c.*3610C>T rs886047943
NM_001378964.1(CDON):c.*3971G>A rs1166335234
NM_001378964.1(CDON):c.*4097A>G rs886047941
NM_001378964.1(CDON):c.*544C>A rs1004215079
NM_001378964.1(CDON):c.*871C>T rs148777681
NM_001378964.1(CDON):c.*897T>C rs563620294
NM_001378964.1(CDON):c.*983A>G rs76724574
NM_001378964.1(CDON):c.-61-15del rs886047980
NM_001378964.1(CDON):c.-61-9_-61-7del rs557544550
NM_001378964.1(CDON):c.1000G>C (p.Asp334His) rs571859031
NM_001378964.1(CDON):c.1002C>T (p.Asp334=)
NM_001378964.1(CDON):c.101A>C (p.Glu34Ala)
NM_001378964.1(CDON):c.101dup (p.Pro35fs)
NM_001378964.1(CDON):c.1043A>G (p.Asn348Ser)
NM_001378964.1(CDON):c.1123G>T (p.Val375Phe)
NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg)
NM_001378964.1(CDON):c.1220T>C (p.Ile407Thr) rs769903081
NM_001378964.1(CDON):c.1227G>A (p.Thr409=)
NM_001378964.1(CDON):c.1234G>T (p.Val412Leu)
NM_001378964.1(CDON):c.1253A>T (p.Asp418Val) rs753627841
NM_001378964.1(CDON):c.1280A>G (p.Asn427Ser)
NM_001378964.1(CDON):c.1320C>G (p.Asp440Glu)
NM_001378964.1(CDON):c.1365G>A (p.Ser455=)
NM_001378964.1(CDON):c.1373G>A (p.Arg458Gln)
NM_001378964.1(CDON):c.1387T>A (p.Ser463Thr)
NM_001378964.1(CDON):c.1387T>C (p.Ser463Pro) rs146002530
NM_001378964.1(CDON):c.1389A>C (p.Ser463=)
NM_001378964.1(CDON):c.1404G>T (p.Leu468Phe) rs2134629474
NM_001378964.1(CDON):c.1485G>A (p.Ala495=) rs371467859
NM_001378964.1(CDON):c.1485G>C (p.Ala495=)
NM_001378964.1(CDON):c.1494del (p.Lys497_Tyr498insTer) rs771168451
NM_001378964.1(CDON):c.1544_1545del (p.Leu515fs) rs1454628495
NM_001378964.1(CDON):c.1553-16C>G
NM_001378964.1(CDON):c.1553-17TC[3] rs762936563
NM_001378964.1(CDON):c.1553-9T>C
NM_001378964.1(CDON):c.1576G>T (p.Ala526Ser)
NM_001378964.1(CDON):c.1619G>C (p.Arg540Thr)
NM_001378964.1(CDON):c.1619G>T (p.Arg540Ile)
NM_001378964.1(CDON):c.1654A>G (p.Ser552Gly) rs886047977
NM_001378964.1(CDON):c.1687G>T (p.Val563Leu)
NM_001378964.1(CDON):c.1718G>A (p.Gly573Asp) rs766454242
NM_001378964.1(CDON):c.173G>A (p.Arg58His)
NM_001378964.1(CDON):c.1746A>T (p.Ile582=) rs2134599747
NM_001378964.1(CDON):c.1808A>G (p.Asp603Gly)
NM_001378964.1(CDON):c.193G>A (p.Gly65Arg)
NM_001378964.1(CDON):c.1943C>T (p.Ser648Phe)
NM_001378964.1(CDON):c.1989A>T (p.Glu663Asp)
NM_001378964.1(CDON):c.2001C>T (p.Ala667=)
NM_001378964.1(CDON):c.2026+6T>G
NM_001378964.1(CDON):c.2027A>G (p.Glu676Gly) rs1946956107
NM_001378964.1(CDON):c.202T>A (p.Leu68Met)
NM_001378964.1(CDON):c.2036C>A (p.Ala679Glu)
NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala) rs387906995
NM_001378964.1(CDON):c.2071G>A (p.Val691Met) rs139323558
NM_001378964.1(CDON):c.2071G>T (p.Val691Leu) rs139323558
NM_001378964.1(CDON):c.2074G>A (p.Gly692Ser)
NM_001378964.1(CDON):c.2091C>G (p.Pro697=)
NM_001378964.1(CDON):c.2091C>T (p.Pro697=)
NM_001378964.1(CDON):c.2092G>A (p.Val698Ile)
NM_001378964.1(CDON):c.2128G>C (p.Val710Leu)
NM_001378964.1(CDON):c.2159-9C>T
NM_001378964.1(CDON):c.2191A>G (p.Thr731Ala) rs776547693
NM_001378964.1(CDON):c.2242G>A (p.Gly748Ser)
NM_001378964.1(CDON):c.2258C>T (p.Ala753Val)
NM_001378964.1(CDON):c.2278C>T (p.Arg760Trp)
NM_001378964.1(CDON):c.2282T>C (p.Met761Thr)
NM_001378964.1(CDON):c.2286G>A (p.Arg762=)
NM_001378964.1(CDON):c.2307A>G (p.Ala769=) rs2134543477
NM_001378964.1(CDON):c.2339T>A (p.Val780Glu) rs387906996
NM_001378964.1(CDON):c.2348G>A (p.Arg783His)
NM_001378964.1(CDON):c.2362+49C>A rs11220309
NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala) rs387906997
NM_001378964.1(CDON):c.2383G>A (p.Val795Ile)
NM_001378964.1(CDON):c.23_25dup (p.Leu8dup) rs2134707762
NM_001378964.1(CDON):c.2400_2401insAA (p.Tyr801fs) rs1946741419
NM_001378964.1(CDON):c.2403T>C (p.Tyr801=) rs777130955
NM_001378964.1(CDON):c.2420G>A (p.Ser807Asn)
NM_001378964.1(CDON):c.2429C>G (p.Ser810Cys) rs746038393
NM_001378964.1(CDON):c.2442A>C (p.Gln814His) rs200964802
NM_001378964.1(CDON):c.244C>T (p.Leu82=) rs552008016
NM_001378964.1(CDON):c.2467T>C (p.Ser823Pro)
NM_001378964.1(CDON):c.2467T>G (p.Ser823Ala)
NM_001378964.1(CDON):c.2474G>A (p.Arg825His)
NM_001378964.1(CDON):c.2492A>G (p.His831Arg)
NM_001378964.1(CDON):c.2544+7A>G rs2134523703
NM_001378964.1(CDON):c.2546A>C (p.Tyr849Ser)
NM_001378964.1(CDON):c.2562_2564del (p.Asn856del)
NM_001378964.1(CDON):c.25T>G (p.Cys9Gly)
NM_001378964.1(CDON):c.2631C>T (p.Tyr877=)
NM_001378964.1(CDON):c.2672T>C (p.Ile891Thr)
NM_001378964.1(CDON):c.2711T>A (p.Met904Lys)
NM_001378964.1(CDON):c.2758A>G (p.Ile920Val) rs1946572181
NM_001378964.1(CDON):c.2774-4C>T
NM_001378964.1(CDON):c.2868C>A (p.Thr956=)
NM_001378964.1(CDON):c.2953G>A (p.Ala985Thr)
NM_001378964.1(CDON):c.2960dup (p.Cys987fs) rs1565503495
NM_001378964.1(CDON):c.2995+16A>G
NM_001378964.1(CDON):c.2997del (p.Lys999fs) rs781775355
NM_001378964.1(CDON):c.3011G>C (p.Gly1004Ala)
NM_001378964.1(CDON):c.3059C>A (p.Thr1020Asn) rs1346428890
NM_001378964.1(CDON):c.3061A>G (p.Thr1021Ala) rs762511903
NM_001378964.1(CDON):c.30A>G (p.Thr10=) rs1213511902
NM_001378964.1(CDON):c.3100G>A (p.Gly1034Arg) rs199957528
NM_001378964.1(CDON):c.3137A>G (p.Tyr1046Cys) rs761608208
NM_001378964.1(CDON):c.3164A>G (p.Asn1055Ser)
NM_001378964.1(CDON):c.3197_3198insATTGAATGGGAGCCTAAA (p.Leu1065_Asn1066insLysLeuAsnGlySerLeu)
NM_001378964.1(CDON):c.3243C>A (p.His1081Gln)
NM_001378964.1(CDON):c.3244G>A (p.Val1082Met)
NM_001378964.1(CDON):c.3258T>A (p.His1086Gln)
NM_001378964.1(CDON):c.3263A>G (p.His1088Arg)
NM_001378964.1(CDON):c.3277-15C>T
NM_001378964.1(CDON):c.3312C>T (p.Asp1104=) rs886047976
NM_001378964.1(CDON):c.3318_3325del (p.Leu1106_Glu1107insTer)
NM_001378964.1(CDON):c.3323G>A (p.Cys1108Tyr)
NM_001378964.1(CDON):c.3334C>T (p.Arg1112Ter)
NM_001378964.1(CDON):c.3335G>A (p.Arg1112Gln)
NM_001378964.1(CDON):c.3349A>G (p.Asn1117Asp)
NM_001378964.1(CDON):c.3357-2A>G
NM_001378964.1(CDON):c.3367A>G (p.Lys1123Glu)
NM_001378964.1(CDON):c.3389G>A (p.Ser1130Asn) rs1945658522
NM_001378964.1(CDON):c.3463G>A (p.Val1155Met)
NM_001378964.1(CDON):c.349+14T>C
NM_001378964.1(CDON):c.349+17C>T
NM_001378964.1(CDON):c.3499G>C (p.Asp1167His) rs777871279
NM_001378964.1(CDON):c.3515C>A (p.Pro1172Gln) rs370469702
NM_001378964.1(CDON):c.3551C>T (p.Pro1184Leu)
NM_001378964.1(CDON):c.3560G>A (p.Arg1187His)
NM_001378964.1(CDON):c.359A>G (p.Asp120Gly)
NM_001378964.1(CDON):c.3603C>A (p.Gly1201=) rs763774382
NM_001378964.1(CDON):c.3614C>T (p.Pro1205Leu)
NM_001378964.1(CDON):c.3622_3631del (p.Phe1208fs) rs757327325
NM_001378964.1(CDON):c.3689T>A (p.Ile1230Asn)
NM_001378964.1(CDON):c.3698C>G (p.Pro1233Arg)
NM_001378964.1(CDON):c.3761C>T (p.Pro1254Leu)
NM_001378964.1(CDON):c.3762G>T (p.Pro1254=)
NM_001378964.1(CDON):c.3764C>T (p.Thr1255Ile)
NM_001378964.1(CDON):c.379C>G (p.His127Asp)
NM_001378964.1(CDON):c.39T>C (p.Tyr13=) rs886047979
NM_001378964.1(CDON):c.424A>T (p.Arg142Trp) rs780474749
NM_001378964.1(CDON):c.441C>G (p.Asn147Lys)
NM_001378964.1(CDON):c.46C>T (p.Leu16Phe) rs1947694770
NM_001378964.1(CDON):c.497-20G>T
NM_001378964.1(CDON):c.50C>A (p.Thr17Lys) rs767275943
NM_001378964.1(CDON):c.531G>A (p.Gln177=)
NM_001378964.1(CDON):c.552G>C (p.Glu184Asp)
NM_001378964.1(CDON):c.634G>T (p.Val212Leu) rs1313305429
NM_001378964.1(CDON):c.640+10T>C
NM_001378964.1(CDON):c.640+1G>A
NM_001378964.1(CDON):c.641-19A>G
NM_001378964.1(CDON):c.644C>G (p.Pro215Arg)
NM_001378964.1(CDON):c.65C>G (p.Ser22Cys)
NM_001378964.1(CDON):c.67G>T (p.Val23Leu)
NM_001378964.1(CDON):c.711C>T (p.Ser237=)
NM_001378964.1(CDON):c.746C>T (p.Pro249Leu)
NM_001378964.1(CDON):c.76+14del rs746012079
NM_001378964.1(CDON):c.77-16G>A
NM_001378964.1(CDON):c.77-4G>C
NM_001378964.1(CDON):c.774C>T (p.Asp258=)
NM_001378964.1(CDON):c.775G>A (p.Gly259Arg)
NM_001378964.1(CDON):c.789A>C (p.Ala263=) rs1947495706
NM_001378964.1(CDON):c.811T>G (p.Leu271Val)
NM_001378964.1(CDON):c.844C>A (p.Pro282Thr)
NM_001378964.1(CDON):c.866C>T (p.Ser289Phe)
NM_001378964.1(CDON):c.891A>G (p.Gly297=)
NM_001378964.1(CDON):c.896T>C (p.Val299Ala)
NM_001378964.1(CDON):c.952C>T (p.Leu318=) rs1591388586
NM_001378964.1(CDON):c.953T>C (p.Leu318Pro)
NM_001378964.1(CDON):c.968T>C (p.Val323Ala)
NM_001378964.1(CDON):c.979G>A (p.Ala327Thr)

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