List of variants in gene CDON studied for congenital nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 446

Download table as spreadsheet

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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.