ClinVar Miner

List of variants in gene FOCAD studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 607
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001375567.1(FOCAD):c.3675+202G>A rs7867929 0.97749
NM_001375567.1(FOCAD):c.5333-227G>A rs4471135 0.97541
NM_001375567.1(FOCAD):c.4262-26A>G rs4977616 0.97243
NM_001375567.1(FOCAD):c.994+239G>A rs4977729 0.96205
NM_001375567.1(FOCAD):c.287+66A>C rs4977898 0.92733
NM_001375567.1(FOCAD):c.1793+217C>T rs1556475 0.85214
NM_001375567.1(FOCAD):c.907-49A>G rs7875153 0.83736
NM_001375567.1(FOCAD):c.1921-222G>A rs2383153 0.82353
NM_001375567.1(FOCAD):c.5002A>G (p.Lys1668Glu) rs4977881 0.75263
NM_001375567.1(FOCAD):c.3876+232C>T rs9406777 0.69834
NM_001375567.1(FOCAD):c.2853-80C>T rs7044452 0.69542
NM_001375567.1(FOCAD):c.2808-227T>C rs4977811 0.67018
NM_001375567.1(FOCAD):c.1197+172T>C rs7027599 0.66870
NM_001375567.1(FOCAD):c.1921-62A>C rs4977780 0.54340
NM_001375567.1(FOCAD):c.1921-253G>C rs2383152 0.53998
NM_001375567.1(FOCAD):c.3675+133T>C rs7851042 0.37810
NM_001375567.1(FOCAD):c.5332+134T>G rs4497056 0.37382
NM_001375567.1(FOCAD):c.4117A>G (p.Thr1373Ala) rs3206852 0.35788
NM_001375567.1(FOCAD):c.3676-144_3676-143dup rs75783017 0.35678
NM_001375567.1(FOCAD):c.2808-64A>C rs4977812 0.34341
NM_001375567.1(FOCAD):c.4639-28T>G rs10964782 0.34321
NM_001375567.1(FOCAD):c.4262-32A>G rs10811445 0.34170
NM_001375567.1(FOCAD):c.497T>C (p.Leu166Ser) rs10511687 0.33673
NM_001375567.1(FOCAD):c.994+237A>G rs7849260 0.33665
NM_001375567.1(FOCAD):c.2853-41A>G rs7044447 0.32570
NM_001375567.1(FOCAD):c.1921-71G>A rs4977779 0.31508
NM_001375567.1(FOCAD):c.392+94A>T rs17685673 0.28897
NM_001375567.1(FOCAD):c.3408-68G>A rs12552707 0.27989
NM_001375567.1(FOCAD):c.3318-145G>T rs2383171 0.26630
NM_001375567.1(FOCAD):c.1456-295A>G rs62560485 0.26262
NM_001375567.1(FOCAD):c.700-44G>T rs7860490 0.23504
NM_001375567.1(FOCAD):c.288-158G>A rs10115318 0.23210
NM_001375567.1(FOCAD):c.3317+184G>A rs7867416 0.21831
NM_001375567.1(FOCAD):c.494+116T>A rs7851363 0.21198
NM_001375567.1(FOCAD):c.699+133A>G rs62557526 0.19738
NM_001375567.1(FOCAD):c.1455+262A>G rs10964702 0.18073
NM_001375567.1(FOCAD):c.5005-23C>T rs13301875 0.18053
NM_001375567.1(FOCAD):c.1455+234C>T rs10964701 0.18012
NM_001375567.1(FOCAD):c.1198-191A>T rs10964700 0.17719
NM_001375567.1(FOCAD):c.1793+148G>T rs13283718 0.15572
NM_001375567.1(FOCAD):c.2962-161del rs34011812 0.12783
NM_001375567.1(FOCAD):c.1920+200C>A rs17759424 0.09593
NM_001375567.1(FOCAD):c.3717A>G (p.Gly1239=) rs35470485 0.07204
NM_001375567.1(FOCAD):c.-32-9T>C rs56301631 0.05652
NM_001375567.1(FOCAD):c.3799-55A>G rs62558285 0.05319
NM_001375567.1(FOCAD):c.1663-58A>G rs7033201 0.04731
NM_001375567.1(FOCAD):c.907-166C>T rs77036953 0.04028
NM_001375567.1(FOCAD):c.907-154T>G rs76546645 0.04018
NM_001375567.1(FOCAD):c.1198-119T>A rs74707685 0.03645
NM_001375567.1(FOCAD):c.907-191C>T rs116067246 0.03570
NM_001375567.1(FOCAD):c.2962-68C>T rs112139262 0.02763
NM_001375567.1(FOCAD):c.1197+168del rs138076096 0.02697
NM_001375567.1(FOCAD):c.-32-44G>T rs73436459 0.02667
NM_001375567.1(FOCAD):c.700-209C>T rs73438327 0.02241
NM_001375567.1(FOCAD):c.2852+140C>T rs116101163 0.02106
NM_001375567.1(FOCAD):c.3546G>A (p.Thr1182=) rs59290932 0.01930
NM_001375567.1(FOCAD):c.4132+196G>T rs10121522 0.01870
NM_001375567.1(FOCAD):c.1819T>C (p.Leu607=) rs35852117 0.01451
NM_001375567.1(FOCAD):c.2862G>A (p.Pro954=) rs59400819 0.01259
NM_001375567.1(FOCAD):c.700G>A (p.Val234Ile) rs10441706 0.01113
NM_001375567.1(FOCAD):c.1416C>T (p.Leu472=) rs35908843 0.00921
NM_001375567.1(FOCAD):c.5047G>A (p.Ala1683Thr) rs150147497 0.00904
NM_001375567.1(FOCAD):c.3411G>A (p.Thr1137=) rs56037765 0.00666
NM_001375567.1(FOCAD):c.3335A>C (p.Glu1112Ala) rs147046649 0.00661
NM_001375567.1(FOCAD):c.4495C>T (p.Pro1499Ser) rs117591845 0.00366
NM_001375567.1(FOCAD):c.4637G>A (p.Arg1546Gln) rs149557796 0.00345
NM_001375567.1(FOCAD):c.2107-9C>T rs182399449 0.00301
NM_001375567.1(FOCAD):c.2104A>G (p.Lys702Glu) rs151286548 0.00273
NM_001375567.1(FOCAD):c.2600A>G (p.Gln867Arg) rs117863779 0.00267
NM_001375567.1(FOCAD):c.5247G>T (p.Gln1749His) rs146289463 0.00247
NM_001375567.1(FOCAD):c.1272A>G (p.Val424=) rs75184203 0.00225
NM_001375567.1(FOCAD):c.4135C>T (p.Pro1379Ser) rs116541636 0.00222
NM_001375567.1(FOCAD):c.1096G>A (p.Asp366Asn) rs144110783 0.00218
NM_001375567.1(FOCAD):c.3032A>G (p.Asp1011Gly) rs75465271 0.00177
NM_001375567.1(FOCAD):c.3324A>C (p.Ile1108=) rs111967925 0.00137
NM_001375567.1(FOCAD):c.2336C>T (p.Thr779Ile) rs147376982 0.00124
NM_001375567.1(FOCAD):c.1567A>G (p.Ile523Val) rs17832431 0.00112
NM_001375567.1(FOCAD):c.5167A>C (p.Arg1723=) rs143148454 0.00076
NM_001375567.1(FOCAD):c.4994C>T (p.Ala1665Val) rs190658661 0.00048
NM_001375567.1(FOCAD):c.3253G>A (p.Val1085Met) rs143564901 0.00019
NM_001375567.1(FOCAD):c.4535G>T (p.Gly1512Val) rs187249342 0.00006
NM_001375567.1(FOCAD):c.3660G>A (p.Val1220=) rs200109952 0.00005
NM_001375567.1(FOCAD):c.2877T>C (p.Asn959=) rs762974225 0.00004
NM_001375567.1(FOCAD):c.5079C>T (p.Leu1693=) rs916866902 0.00001
GRCh37/hg19 9p21.3(chr9:20761903-20814793)x1
GRCh37/hg19 9p21.3(chr9:20832145-20901604)x1
GRCh37/hg19 9p21.3(chr9:20845393-20907846)x1
GRCh37/hg19 9p21.3(chr9:20887736-20938643)x1
NC_000009.11:g.(?_20758069)_(20765092_?)del
NC_000009.11:g.(?_20862557)_(20916956_?)del
NM_001375567.1(FOCAD):c.1026G>A (p.Gln342=)
NM_001375567.1(FOCAD):c.1051C>T (p.Leu351=)
NM_001375567.1(FOCAD):c.1077A>G (p.Leu359=)
NM_001375567.1(FOCAD):c.10G>T (p.Asp4Tyr)
NM_001375567.1(FOCAD):c.1115AAG[1] (p.Glu373del)
NM_001375567.1(FOCAD):c.1125dup (p.Ser376fs)
NM_001375567.1(FOCAD):c.1128T>C (p.Ser376=)
NM_001375567.1(FOCAD):c.1137G>T (p.Gln379His)
NM_001375567.1(FOCAD):c.1144C>G (p.Leu382Val)
NM_001375567.1(FOCAD):c.1160T>C (p.Met387Thr)
NM_001375567.1(FOCAD):c.1171G>A (p.Glu391Lys)
NM_001375567.1(FOCAD):c.1172A>C (p.Glu391Ala)
NM_001375567.1(FOCAD):c.1176T>C (p.Cys392=)
NM_001375567.1(FOCAD):c.1180A>G (p.Arg394Gly)
NM_001375567.1(FOCAD):c.1191C>T (p.His397=)
NM_001375567.1(FOCAD):c.1193A>G (p.Gln398Arg)
NM_001375567.1(FOCAD):c.1197+14C>G
NM_001375567.1(FOCAD):c.1197+51C>A rs6475473
NM_001375567.1(FOCAD):c.1198-15G>A
NM_001375567.1(FOCAD):c.1198-6T>C
NM_001375567.1(FOCAD):c.120A>G (p.Gln40=)
NM_001375567.1(FOCAD):c.1226C>A (p.Thr409Asn)
NM_001375567.1(FOCAD):c.1232T>C (p.Met411Thr)
NM_001375567.1(FOCAD):c.1254C>T (p.Ala418=)
NM_001375567.1(FOCAD):c.1270G>A (p.Val424Ile)
NM_001375567.1(FOCAD):c.1284G>A (p.Ser428=)
NM_001375567.1(FOCAD):c.1288G>C (p.Ala430Pro)
NM_001375567.1(FOCAD):c.1296T>C (p.Ser432=)
NM_001375567.1(FOCAD):c.1308T>G (p.Ala436=)
NM_001375567.1(FOCAD):c.133-12G>A
NM_001375567.1(FOCAD):c.133-16A>G
NM_001375567.1(FOCAD):c.133-61GT[7] rs112284387
NM_001375567.1(FOCAD):c.1330A>G (p.Ile444Val)
NM_001375567.1(FOCAD):c.1330A>T (p.Ile444Phe)
NM_001375567.1(FOCAD):c.1336G>T (p.Ala446Ser)
NM_001375567.1(FOCAD):c.1338T>C (p.Ala446=)
NM_001375567.1(FOCAD):c.1344C>T (p.Ile448=)
NM_001375567.1(FOCAD):c.1350G>A (p.Ala450=)
NM_001375567.1(FOCAD):c.1357T>G (p.Phe453Val)
NM_001375567.1(FOCAD):c.1393G>A (p.Gly465Arg)
NM_001375567.1(FOCAD):c.1394G>C (p.Gly465Ala)
NM_001375567.1(FOCAD):c.1413A>G (p.Ile471Met)
NM_001375567.1(FOCAD):c.1416C>G (p.Leu472=)
NM_001375567.1(FOCAD):c.1444del (p.Asp482fs)
NM_001375567.1(FOCAD):c.1455+13A>G
NM_001375567.1(FOCAD):c.1455+3A>G
NM_001375567.1(FOCAD):c.1456-19T>G
NM_001375567.1(FOCAD):c.1456-20A>G
NM_001375567.1(FOCAD):c.1458G>A (p.Val486=)
NM_001375567.1(FOCAD):c.1468A>T (p.Ile490Phe)
NM_001375567.1(FOCAD):c.1496G>A (p.Arg499Lys)
NM_001375567.1(FOCAD):c.1507C>G (p.Pro503Ala)
NM_001375567.1(FOCAD):c.1515A>G (p.Leu505=)
NM_001375567.1(FOCAD):c.1523A>T (p.Asp508Val)
NM_001375567.1(FOCAD):c.154T>C (p.Trp52Arg)
NM_001375567.1(FOCAD):c.1556A>G (p.His519Arg)
NM_001375567.1(FOCAD):c.1560+11T>G
NM_001375567.1(FOCAD):c.1560+14T>C
NM_001375567.1(FOCAD):c.1560+15T>A
NM_001375567.1(FOCAD):c.1561-3T>G
NM_001375567.1(FOCAD):c.1565G>A (p.Cys522Tyr)
NM_001375567.1(FOCAD):c.1568T>C (p.Ile523Thr)
NM_001375567.1(FOCAD):c.1569A>G (p.Ile523Met)
NM_001375567.1(FOCAD):c.1584A>T (p.Arg528=)
NM_001375567.1(FOCAD):c.1593ACT[1] (p.Leu533del)
NM_001375567.1(FOCAD):c.1596A>G (p.Leu532=)
NM_001375567.1(FOCAD):c.1603A>G (p.Thr535Ala)
NM_001375567.1(FOCAD):c.1613G>A (p.Arg538Gln)
NM_001375567.1(FOCAD):c.1662+14T>C
NM_001375567.1(FOCAD):c.1663-4G>A
NM_001375567.1(FOCAD):c.1663-4G>T rs143047027
NM_001375567.1(FOCAD):c.1663-5C>T
NM_001375567.1(FOCAD):c.1666C>T (p.Arg556Ter)
NM_001375567.1(FOCAD):c.1679A>C (p.Glu560Ala)
NM_001375567.1(FOCAD):c.1681C>T (p.Leu561=)
NM_001375567.1(FOCAD):c.1684C>T (p.Gln562Ter)
NM_001375567.1(FOCAD):c.1703C>G (p.Ser568Cys)
NM_001375567.1(FOCAD):c.1725G>T (p.Val575=)
NM_001375567.1(FOCAD):c.1740A>G (p.Gln580=)
NM_001375567.1(FOCAD):c.1747A>T (p.Lys583Ter)
NM_001375567.1(FOCAD):c.176A>G (p.Asn59Ser)
NM_001375567.1(FOCAD):c.1770A>T (p.Ser590=)
NM_001375567.1(FOCAD):c.1781T>C (p.Ile594Thr)
NM_001375567.1(FOCAD):c.1794-16C>G
NM_001375567.1(FOCAD):c.1794-7C>G
NM_001375567.1(FOCAD):c.1794G>A (p.Arg598=)
NM_001375567.1(FOCAD):c.1799A>G (p.Tyr600Cys)
NM_001375567.1(FOCAD):c.1805A>G (p.His602Arg)
NM_001375567.1(FOCAD):c.1806T>C (p.His602=)
NM_001375567.1(FOCAD):c.1834C>G (p.Gln612Glu)
NM_001375567.1(FOCAD):c.1865A>C (p.Gln622Pro)
NM_001375567.1(FOCAD):c.1874C>A (p.Pro625Gln)
NM_001375567.1(FOCAD):c.188G>A (p.Arg63Gln)
NM_001375567.1(FOCAD):c.1916C>G (p.Ala639Gly)
NM_001375567.1(FOCAD):c.1921-15C>G
NM_001375567.1(FOCAD):c.1933C>T (p.Arg645Cys)
NM_001375567.1(FOCAD):c.1939A>G (p.Thr647Ala)
NM_001375567.1(FOCAD):c.1958C>A (p.Pro653Gln)
NM_001375567.1(FOCAD):c.1969T>A (p.Cys657Ser)
NM_001375567.1(FOCAD):c.1984C>G (p.Leu662Val)
NM_001375567.1(FOCAD):c.1998A>G (p.Thr666=)
NM_001375567.1(FOCAD):c.2034G>A (p.Thr678=)
NM_001375567.1(FOCAD):c.2055+15C>T
NM_001375567.1(FOCAD):c.2055+4T>G
NM_001375567.1(FOCAD):c.2056-8C>T
NM_001375567.1(FOCAD):c.2077A>G (p.Ser693Gly)
NM_001375567.1(FOCAD):c.20A>T (p.Lys7Ile)
NM_001375567.1(FOCAD):c.2105A>G (p.Lys702Arg)
NM_001375567.1(FOCAD):c.2107-11A>C
NM_001375567.1(FOCAD):c.2107-11A>T
NM_001375567.1(FOCAD):c.2107-12T>A
NM_001375567.1(FOCAD):c.2107-12_2107-11insTA
NM_001375567.1(FOCAD):c.2107-13T>G
NM_001375567.1(FOCAD):c.2107-14T>C
NM_001375567.1(FOCAD):c.2113A>G (p.Ile705Val)
NM_001375567.1(FOCAD):c.2130A>G (p.Ala710=)
NM_001375567.1(FOCAD):c.214G>A (p.Ala72Thr)
NM_001375567.1(FOCAD):c.2153= (p.Ser718=)
NM_001375567.1(FOCAD):c.2157A>G (p.Ala719=)
NM_001375567.1(FOCAD):c.2159G>A (p.Gly720Glu)
NM_001375567.1(FOCAD):c.2190+12T>G
NM_001375567.1(FOCAD):c.2190+15T>C
NM_001375567.1(FOCAD):c.2190+3A>G
NM_001375567.1(FOCAD):c.2191-14G>A
NM_001375567.1(FOCAD):c.2191-15C>T
NM_001375567.1(FOCAD):c.2191A>G (p.Ile731Val)
NM_001375567.1(FOCAD):c.2201A>C (p.Glu734Ala)
NM_001375567.1(FOCAD):c.2206C>T (p.Pro736Ser)
NM_001375567.1(FOCAD):c.220G>A (p.Val74Ile)
NM_001375567.1(FOCAD):c.2223A>G (p.Leu741=) rs1587471970
NM_001375567.1(FOCAD):c.2225A>T (p.Asp742Val)
NM_001375567.1(FOCAD):c.2265T>C (p.Pro755=)
NM_001375567.1(FOCAD):c.2276A>G (p.Tyr759Cys)
NM_001375567.1(FOCAD):c.2276A>T (p.Tyr759Phe)
NM_001375567.1(FOCAD):c.2299C>T (p.Pro767Ser)
NM_001375567.1(FOCAD):c.2318-12A>G
NM_001375567.1(FOCAD):c.2318-5T>C
NM_001375567.1(FOCAD):c.2335A>G (p.Thr779Ala)
NM_001375567.1(FOCAD):c.2344G>T (p.Val782Leu)
NM_001375567.1(FOCAD):c.2369C>G (p.Pro790Arg)
NM_001375567.1(FOCAD):c.2371C>T (p.Arg791Cys)
NM_001375567.1(FOCAD):c.2403T>A (p.Gly801=)
NM_001375567.1(FOCAD):c.2405C>T (p.Ala802Val)
NM_001375567.1(FOCAD):c.2433A>G (p.Ala811=)
NM_001375567.1(FOCAD):c.2434G>C (p.Gly812Arg)
NM_001375567.1(FOCAD):c.2438T>A (p.Ile813Asn)
NM_001375567.1(FOCAD):c.2441C>T (p.Pro814Leu)
NM_001375567.1(FOCAD):c.248A>G (p.Tyr83Cys)
NM_001375567.1(FOCAD):c.2503+10G>A
NM_001375567.1(FOCAD):c.2503+62T>C rs7026225
NM_001375567.1(FOCAD):c.2503+6G>C
NM_001375567.1(FOCAD):c.2503+7G>A
NM_001375567.1(FOCAD):c.2503G>A (p.Gly835Ser)
NM_001375567.1(FOCAD):c.2504-5dup
NM_001375567.1(FOCAD):c.2504-9T>A
NM_001375567.1(FOCAD):c.2509A>G (p.Met837Val)
NM_001375567.1(FOCAD):c.2522A>G (p.Tyr841Cys)
NM_001375567.1(FOCAD):c.2539C>G (p.Gln847Glu)
NM_001375567.1(FOCAD):c.2547A>G (p.Lys849=)
NM_001375567.1(FOCAD):c.2584G>C (p.Gly862Arg)
NM_001375567.1(FOCAD):c.2597A>G (p.Lys866Arg)
NM_001375567.1(FOCAD):c.259G>A (p.Gly87Arg)
NM_001375567.1(FOCAD):c.2612C>T (p.Ala871Val)
NM_001375567.1(FOCAD):c.2616T>G (p.Leu872=)
NM_001375567.1(FOCAD):c.2625+11G>A rs2383156
NM_001375567.1(FOCAD):c.2625+2T>C
NM_001375567.1(FOCAD):c.2625+9C>T
NM_001375567.1(FOCAD):c.2626-1G>T
NM_001375567.1(FOCAD):c.2626-4A>G
NM_001375567.1(FOCAD):c.2626-7C>T
NM_001375567.1(FOCAD):c.2630A>C (p.His877Pro)
NM_001375567.1(FOCAD):c.2631T>C (p.His877=)
NM_001375567.1(FOCAD):c.2651A>C (p.His884Pro)
NM_001375567.1(FOCAD):c.2653C>T (p.Arg885Cys)
NM_001375567.1(FOCAD):c.2654G>A (p.Arg885His)
NM_001375567.1(FOCAD):c.2659A>G (p.Ile887Val)
NM_001375567.1(FOCAD):c.2685A>C (p.Ala895=)
NM_001375567.1(FOCAD):c.2685A>G (p.Ala895=)
NM_001375567.1(FOCAD):c.2718+96dup rs11435123
NM_001375567.1(FOCAD):c.2723G>C (p.Arg908Thr)
NM_001375567.1(FOCAD):c.277C>A (p.Pro93Thr)
NM_001375567.1(FOCAD):c.278dup (p.Ser94fs)
NM_001375567.1(FOCAD):c.279A>G (p.Pro93=)
NM_001375567.1(FOCAD):c.2807+12T>C
NM_001375567.1(FOCAD):c.2807+192AC[19] rs56856864
NM_001375567.1(FOCAD):c.2807+192AC[20] rs56856864
NM_001375567.1(FOCAD):c.2807+192AC[21] rs56856864
NM_001375567.1(FOCAD):c.2807+192AC[23] rs56856864
NM_001375567.1(FOCAD):c.2807+192AC[24] rs56856864
NM_001375567.1(FOCAD):c.2807+2T>G
NM_001375567.1(FOCAD):c.2818A>T (p.Met940Leu)
NM_001375567.1(FOCAD):c.2846C>A (p.Ala949Asp)
NM_001375567.1(FOCAD):c.2853-141C>G rs7044425
NM_001375567.1(FOCAD):c.2856G>A (p.Glu952=)
NM_001375567.1(FOCAD):c.285C>T (p.Thr95=)
NM_001375567.1(FOCAD):c.2861C>T (p.Pro954Leu)
NM_001375567.1(FOCAD):c.2862G>C (p.Pro954=)
NM_001375567.1(FOCAD):c.287+7T>G
NM_001375567.1(FOCAD):c.2879C>G (p.Ala960Gly)
NM_001375567.1(FOCAD):c.288-13T>G
NM_001375567.1(FOCAD):c.288-17G>C
NM_001375567.1(FOCAD):c.2889T>C (p.Ala963=)
NM_001375567.1(FOCAD):c.2890C>A (p.Leu964Ile)
NM_001375567.1(FOCAD):c.2890C>G (p.Leu964Val)
NM_001375567.1(FOCAD):c.2902G>C (p.Ala968Pro)
NM_001375567.1(FOCAD):c.2907C>G (p.Val969=)
NM_001375567.1(FOCAD):c.2908G>A (p.Val970Ile)
NM_001375567.1(FOCAD):c.2910C>T (p.Val970=)
NM_001375567.1(FOCAD):c.2933T>C (p.Leu978Pro)
NM_001375567.1(FOCAD):c.2949C>T (p.Asp983=)
NM_001375567.1(FOCAD):c.2950G>A (p.Gly984Arg)
NM_001375567.1(FOCAD):c.2961G>A (p.Glu987=)
NM_001375567.1(FOCAD):c.2962-19G>A
NM_001375567.1(FOCAD):c.2968C>A (p.Pro990Thr)
NM_001375567.1(FOCAD):c.2977C>T (p.Leu993Phe)
NM_001375567.1(FOCAD):c.2988A>G (p.Lys996=)
NM_001375567.1(FOCAD):c.3001A>G (p.Met1001Val)
NM_001375567.1(FOCAD):c.3041A>G (p.Tyr1014Cys)
NM_001375567.1(FOCAD):c.3052G>A (p.Gly1018Arg)
NM_001375567.1(FOCAD):c.3078+14dup
NM_001375567.1(FOCAD):c.3078+21del
NM_001375567.1(FOCAD):c.3078+9A>G
NM_001375567.1(FOCAD):c.3079-6T>C
NM_001375567.1(FOCAD):c.3079-8T>A
NM_001375567.1(FOCAD):c.3079-9A>G
NM_001375567.1(FOCAD):c.3090T>C (p.Ser1030=)
NM_001375567.1(FOCAD):c.3097A>T (p.Asn1033Tyr)
NM_001375567.1(FOCAD):c.3106A>T (p.Ser1036Cys)
NM_001375567.1(FOCAD):c.3111C>A (p.Ala1037=)
NM_001375567.1(FOCAD):c.3134C>T (p.Thr1045Met)
NM_001375567.1(FOCAD):c.3141G>A (p.Leu1047=)
NM_001375567.1(FOCAD):c.3153G>T (p.Val1051=)
NM_001375567.1(FOCAD):c.3163A>G (p.Ile1055Val)
NM_001375567.1(FOCAD):c.3165T>C (p.Ile1055=)
NM_001375567.1(FOCAD):c.3202A>G (p.Met1068Val)
NM_001375567.1(FOCAD):c.3208A>G (p.Thr1070Ala)
NM_001375567.1(FOCAD):c.3219A>C (p.Leu1073Phe)
NM_001375567.1(FOCAD):c.325C>A (p.Leu109Ile)
NM_001375567.1(FOCAD):c.3260T>G (p.Ile1087Ser)
NM_001375567.1(FOCAD):c.3265A>G (p.Met1089Val)
NM_001375567.1(FOCAD):c.3290T>G (p.Leu1097Arg)
NM_001375567.1(FOCAD):c.3295C>T (p.Arg1099Cys)
NM_001375567.1(FOCAD):c.3297C>T (p.Arg1099=) rs1587642293
NM_001375567.1(FOCAD):c.3317+19T>C
NM_001375567.1(FOCAD):c.3317G>C (p.Ser1106Thr)
NM_001375567.1(FOCAD):c.3318-114dup rs112589234
NM_001375567.1(FOCAD):c.3318-12A>T
NM_001375567.1(FOCAD):c.3319G>A (p.Asp1107Asn)
NM_001375567.1(FOCAD):c.3338T>C (p.Met1113Thr)
NM_001375567.1(FOCAD):c.3341A>G (p.Asn1114Ser)
NM_001375567.1(FOCAD):c.3359C>T (p.Ser1120Leu)
NM_001375567.1(FOCAD):c.3360G>A (p.Ser1120=)
NM_001375567.1(FOCAD):c.3386T>C (p.Phe1129Ser)
NM_001375567.1(FOCAD):c.3390C>A (p.Asp1130Glu)
NM_001375567.1(FOCAD):c.33T>A (p.Phe11Leu)
NM_001375567.1(FOCAD):c.3427G>A (p.Val1143Ile)
NM_001375567.1(FOCAD):c.3429T>G (p.Val1143=)
NM_001375567.1(FOCAD):c.3433C>G (p.Leu1145Val)
NM_001375567.1(FOCAD):c.3447C>T (p.Leu1149=)
NM_001375567.1(FOCAD):c.3458G>A (p.Ser1153Asn)
NM_001375567.1(FOCAD):c.3459C>T (p.Ser1153=)
NM_001375567.1(FOCAD):c.3463C>G (p.Gln1155Glu)
NM_001375567.1(FOCAD):c.3476G>T (p.Arg1159Leu)
NM_001375567.1(FOCAD):c.3478G>A (p.Val1160Ile)
NM_001375567.1(FOCAD):c.3487G>A (p.Ala1163Thr)
NM_001375567.1(FOCAD):c.3489A>G (p.Ala1163=)
NM_001375567.1(FOCAD):c.3496C>T (p.Leu1166Phe)
NM_001375567.1(FOCAD):c.3517G>A (p.Val1173Ile)
NM_001375567.1(FOCAD):c.3526A>C (p.Ser1176Arg)
NM_001375567.1(FOCAD):c.3528C>T (p.Ser1176=)
NM_001375567.1(FOCAD):c.3529G>A (p.Gly1177Arg)
NM_001375567.1(FOCAD):c.3545C>T (p.Thr1182Met)
NM_001375567.1(FOCAD):c.3555+16T>C
NM_001375567.1(FOCAD):c.3556G>A (p.Val1186Ile)
NM_001375567.1(FOCAD):c.3567C>T (p.Tyr1189=)
NM_001375567.1(FOCAD):c.3569C>G (p.Thr1190Arg)
NM_001375567.1(FOCAD):c.3584G>A (p.Cys1195Tyr)
NM_001375567.1(FOCAD):c.3611T>C (p.Ile1204Thr)
NM_001375567.1(FOCAD):c.3675+5G>C
NM_001375567.1(FOCAD):c.3675+9G>A
NM_001375567.1(FOCAD):c.3676-10T>A
NM_001375567.1(FOCAD):c.3676-5A>T
NM_001375567.1(FOCAD):c.3680C>A (p.Ser1227Ter)
NM_001375567.1(FOCAD):c.3700G>C (p.Gly1234Arg)
NM_001375567.1(FOCAD):c.370A>G (p.Ile124Val)
NM_001375567.1(FOCAD):c.374A>G (p.Gln125Arg)
NM_001375567.1(FOCAD):c.3754G>A (p.Gly1252Ser)
NM_001375567.1(FOCAD):c.3758G>A (p.Ser1253Asn)
NM_001375567.1(FOCAD):c.3765A>G (p.Leu1255=)
NM_001375567.1(FOCAD):c.3767T>C (p.Leu1256Pro)
NM_001375567.1(FOCAD):c.376A>G (p.Ser126Gly)
NM_001375567.1(FOCAD):c.3798+2T>A
NM_001375567.1(FOCAD):c.3799-18C>G
NM_001375567.1(FOCAD):c.3799-19T>C
NM_001375567.1(FOCAD):c.3805C>A (p.Pro1269Thr)
NM_001375567.1(FOCAD):c.3811A>G (p.Met1271Val)
NM_001375567.1(FOCAD):c.3825_3829del (p.Ala1276fs)
NM_001375567.1(FOCAD):c.3838A>G (p.Met1280Val)
NM_001375567.1(FOCAD):c.386C>T (p.Thr129Ile)
NM_001375567.1(FOCAD):c.3876+14C>T
NM_001375567.1(FOCAD):c.3877-10A>C
NM_001375567.1(FOCAD):c.3877-3C>T
NM_001375567.1(FOCAD):c.3877-7C>A
NM_001375567.1(FOCAD):c.3877C>G (p.Leu1293Val)
NM_001375567.1(FOCAD):c.3888A>G (p.Glu1296=)
NM_001375567.1(FOCAD):c.392+25_392+26del
NM_001375567.1(FOCAD):c.392+25_392+26dup
NM_001375567.1(FOCAD):c.392+26del
NM_001375567.1(FOCAD):c.392+26dup rs57561334
NM_001375567.1(FOCAD):c.3925G>T (p.Glu1309Ter)
NM_001375567.1(FOCAD):c.393-11G>T
NM_001375567.1(FOCAD):c.393-13C>T
NM_001375567.1(FOCAD):c.393-14T>C
NM_001375567.1(FOCAD):c.393-14_393-13insG
NM_001375567.1(FOCAD):c.393-17C>G
NM_001375567.1(FOCAD):c.3930C>T (p.Val1310=)
NM_001375567.1(FOCAD):c.3947A>G (p.Gln1316Arg)
NM_001375567.1(FOCAD):c.397C>A (p.His133Asn)
NM_001375567.1(FOCAD):c.401C>T (p.Pro134Leu)
NM_001375567.1(FOCAD):c.4045G>A (p.Ala1349Thr)
NM_001375567.1(FOCAD):c.4048T>C (p.Ser1350Pro)
NM_001375567.1(FOCAD):c.4051+2T>C
NM_001375567.1(FOCAD):c.4052-17A>G
NM_001375567.1(FOCAD):c.4056T>C (p.Pro1352=)
NM_001375567.1(FOCAD):c.4076C>T (p.Pro1359Leu)
NM_001375567.1(FOCAD):c.4106G>A (p.Gly1369Asp)
NM_001375567.1(FOCAD):c.4132+10C>A
NM_001375567.1(FOCAD):c.4132+169A>G rs10511693
NM_001375567.1(FOCAD):c.4133-121C>T rs10119918
NM_001375567.1(FOCAD):c.4133-14A>G
NM_001375567.1(FOCAD):c.4133-5T>G
NM_001375567.1(FOCAD):c.4144G>T (p.Val1382Leu)
NM_001375567.1(FOCAD):c.4154C>G (p.Ser1385Cys)
NM_001375567.1(FOCAD):c.4155_4156delinsAT (p.Leu1386Phe)
NM_001375567.1(FOCAD):c.4185A>G (p.Ala1395=)
NM_001375567.1(FOCAD):c.4193G>C (p.Gly1398Ala)
NM_001375567.1(FOCAD):c.4205A>G (p.Gln1402Arg)
NM_001375567.1(FOCAD):c.4225G>A (p.Ala1409Thr)
NM_001375567.1(FOCAD):c.4241C>T (p.Pro1414Leu)
NM_001375567.1(FOCAD):c.424G>C (p.Glu142Gln)
NM_001375567.1(FOCAD):c.4262-8A>C
NM_001375567.1(FOCAD):c.427C>G (p.His143Asp)
NM_001375567.1(FOCAD):c.4294A>G (p.Met1432Val)
NM_001375567.1(FOCAD):c.4308A>G (p.Ala1436=)
NM_001375567.1(FOCAD):c.4335A>G (p.Leu1445=)
NM_001375567.1(FOCAD):c.4355C>T (p.Pro1452Leu)
NM_001375567.1(FOCAD):c.4363A>C (p.Ile1455Leu)
NM_001375567.1(FOCAD):c.4378-5T>C
NM_001375567.1(FOCAD):c.4378-6T>C
NM_001375567.1(FOCAD):c.4386C>G (p.Thr1462=)
NM_001375567.1(FOCAD):c.4411C>T (p.Pro1471Ser)
NM_001375567.1(FOCAD):c.4429A>G (p.Ile1477Val)
NM_001375567.1(FOCAD):c.4431C>G (p.Ile1477Met)
NM_001375567.1(FOCAD):c.4435G>A (p.Asp1479Asn)
NM_001375567.1(FOCAD):c.4505G>A (p.Ser1502Asn)
NM_001375567.1(FOCAD):c.4523G>C (p.Ser1508Thr)
NM_001375567.1(FOCAD):c.4524T>G (p.Ser1508Arg)
NM_001375567.1(FOCAD):c.4545G>A (p.Gln1515=)
NM_001375567.1(FOCAD):c.4590C>T (p.Leu1530=)
NM_001375567.1(FOCAD):c.4600A>T (p.Thr1534Ser)
NM_001375567.1(FOCAD):c.4638+9C>A
NM_001375567.1(FOCAD):c.4648C>A (p.Leu1550Ile)
NM_001375567.1(FOCAD):c.4670C>A (p.Ala1557Glu)
NM_001375567.1(FOCAD):c.4674A>G (p.Lys1558=)
NM_001375567.1(FOCAD):c.4695T>G (p.Asp1565Glu)
NM_001375567.1(FOCAD):c.4702G>A (p.Ala1568Thr)
NM_001375567.1(FOCAD):c.4704C>T (p.Ala1568=)
NM_001375567.1(FOCAD):c.4713C>T (p.Ile1571=)
NM_001375567.1(FOCAD):c.4714G>A (p.Ala1572Thr)
NM_001375567.1(FOCAD):c.471G>A (p.Ala157=)
NM_001375567.1(FOCAD):c.4728+11A>G
NM_001375567.1(FOCAD):c.4728+58T>G rs4304410
NM_001375567.1(FOCAD):c.4728+70G>C rs56069924
NM_001375567.1(FOCAD):c.4729-21_4729-5dup
NM_001375567.1(FOCAD):c.4729-4G>T
NM_001375567.1(FOCAD):c.4729-4_4729-3delinsTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_001375567.1(FOCAD):c.4744G>A (p.Ala1582Thr)
NM_001375567.1(FOCAD):c.4759C>T (p.Leu1587=)
NM_001375567.1(FOCAD):c.4764C>G (p.Tyr1588Ter)
NM_001375567.1(FOCAD):c.4769T>G (p.Val1590Gly)
NM_001375567.1(FOCAD):c.4804G>A (p.Asp1602Asn)
NM_001375567.1(FOCAD):c.4808T>C (p.Met1603Thr)
NM_001375567.1(FOCAD):c.4811T>C (p.Leu1604Pro)
NM_001375567.1(FOCAD):c.4812G>C (p.Leu1604=)
NM_001375567.1(FOCAD):c.4816G>A (p.Val1606Ile)
NM_001375567.1(FOCAD):c.4821T>C (p.Ala1607=)
NM_001375567.1(FOCAD):c.4822G>T (p.Val1608Leu)
NM_001375567.1(FOCAD):c.4827G>C (p.Gln1609His)
NM_001375567.1(FOCAD):c.4831C>T (p.Arg1611Cys)
NM_001375567.1(FOCAD):c.4835A>G (p.Glu1612Gly)
NM_001375567.1(FOCAD):c.4839A>T (p.Lys1613Asn)
NM_001375567.1(FOCAD):c.487C>A (p.Pro163Thr)
NM_001375567.1(FOCAD):c.4882C>T (p.Arg1628Trp)
NM_001375567.1(FOCAD):c.489T>C (p.Pro163=)
NM_001375567.1(FOCAD):c.4904C>T (p.Thr1635Met)
NM_001375567.1(FOCAD):c.4905G>A (p.Thr1635=)
NM_001375567.1(FOCAD):c.4906+10C>T
NM_001375567.1(FOCAD):c.4909G>A (p.Val1637Ile)
NM_001375567.1(FOCAD):c.494+11A>G
NM_001375567.1(FOCAD):c.494+5del
NM_001375567.1(FOCAD):c.4951A>G (p.Ile1651Val)
NM_001375567.1(FOCAD):c.4991C>T (p.Thr1664Met)
NM_001375567.1(FOCAD):c.4998_4999insTAG (p.Asp1667Ter)
NM_001375567.1(FOCAD):c.4999G>A (p.Asp1667Asn)
NM_001375567.1(FOCAD):c.49C>A (p.Gln17Lys)
NM_001375567.1(FOCAD):c.5001_5002inv (p.Lys1668Glu)
NM_001375567.1(FOCAD):c.5004+14G>C
NM_001375567.1(FOCAD):c.5004+14dup
NM_001375567.1(FOCAD):c.5005-15C>A
NM_001375567.1(FOCAD):c.5005-4G>A
NM_001375567.1(FOCAD):c.5005-7A>G rs1019593703
NM_001375567.1(FOCAD):c.5005-8C>T
NM_001375567.1(FOCAD):c.5005G>C (p.Ala1669Pro)
NM_001375567.1(FOCAD):c.5006C>G (p.Ala1669Gly)
NM_001375567.1(FOCAD):c.5038G>A (p.Ala1680Thr)
NM_001375567.1(FOCAD):c.5046T>C (p.Val1682=)
NM_001375567.1(FOCAD):c.5058C>G (p.Asp1686Glu)
NM_001375567.1(FOCAD):c.5061C>T (p.His1687=)
NM_001375567.1(FOCAD):c.5062A>G (p.Thr1688Ala)
NM_001375567.1(FOCAD):c.5068C>G (p.Pro1690Ala)
NM_001375567.1(FOCAD):c.5108A>G (p.His1703Arg)
NM_001375567.1(FOCAD):c.510C>T (p.Cys170=)
NM_001375567.1(FOCAD):c.5112G>C (p.Gln1704His)
NM_001375567.1(FOCAD):c.5113G>C (p.Glu1705Gln)
NM_001375567.1(FOCAD):c.5123C>G (p.Pro1708Arg)
NM_001375567.1(FOCAD):c.5124G>A (p.Pro1708=)
NM_001375567.1(FOCAD):c.5125G>A (p.Ala1709Thr)
NM_001375567.1(FOCAD):c.5162T>A (p.Met1721Lys)
NM_001375567.1(FOCAD):c.5166C>T (p.His1722=)
NM_001375567.1(FOCAD):c.5181G>A (p.Gln1727=)
NM_001375567.1(FOCAD):c.51A>G (p.Gln17=)
NM_001375567.1(FOCAD):c.5221C>T (p.Leu1741=)
NM_001375567.1(FOCAD):c.5232G>A (p.Glu1744=)
NM_001375567.1(FOCAD):c.5249C>A (p.Thr1750Asn)
NM_001375567.1(FOCAD):c.5251C>G (p.Gln1751Glu)
NM_001375567.1(FOCAD):c.5256+23_5256+24insTACCTGCTT
NM_001375567.1(FOCAD):c.5257-18T>A
NM_001375567.1(FOCAD):c.5257-20A>G
NM_001375567.1(FOCAD):c.5257-3T>G
NM_001375567.1(FOCAD):c.5269C>G (p.Leu1757Val)
NM_001375567.1(FOCAD):c.5299G>T (p.Ala1767Ser)
NM_001375567.1(FOCAD):c.5302C>G (p.Leu1768Val)
NM_001375567.1(FOCAD):c.5319G>A (p.Arg1773=)
NM_001375567.1(FOCAD):c.5326T>C (p.Leu1776=)
NM_001375567.1(FOCAD):c.5332+3A>G
NM_001375567.1(FOCAD):c.5332+4T>G
NM_001375567.1(FOCAD):c.5333-17A>C
NM_001375567.1(FOCAD):c.5333-17A>G
NM_001375567.1(FOCAD):c.5333-181_5333-180insCA rs56146157
NM_001375567.1(FOCAD):c.5333C>T (p.Ala1778Val)
NM_001375567.1(FOCAD):c.5356C>G (p.Leu1786Val)
NM_001375567.1(FOCAD):c.5376A>T (p.Lys1792Asn)
NM_001375567.1(FOCAD):c.5380G>A (p.Val1794Ile)
NM_001375567.1(FOCAD):c.5396_5397dup (p.Gly1800fs)
NM_001375567.1(FOCAD):c.543G>C (p.Leu181=)
NM_001375567.1(FOCAD):c.545A>G (p.Tyr182Cys)
NM_001375567.1(FOCAD):c.555A>G (p.Pro185=)
NM_001375567.1(FOCAD):c.55C>G (p.Gln19Glu)
NM_001375567.1(FOCAD):c.58-14del
NM_001375567.1(FOCAD):c.584G>A (p.Arg195Gln)
NM_001375567.1(FOCAD):c.588A>C (p.Leu196=)
NM_001375567.1(FOCAD):c.59C>G (p.Ala20Gly)
NM_001375567.1(FOCAD):c.60T>A (p.Ala20=)
NM_001375567.1(FOCAD):c.617A>C (p.Gln206Pro)
NM_001375567.1(FOCAD):c.61G>C (p.Val21Leu)
NM_001375567.1(FOCAD):c.644C>T (p.Ser215Leu)
NM_001375567.1(FOCAD):c.64G>A (p.Gly22Ser)
NM_001375567.1(FOCAD):c.656A>G (p.Gln219Arg)
NM_001375567.1(FOCAD):c.690A>G (p.Pro230=)
NM_001375567.1(FOCAD):c.699+25A>G rs7871811
NM_001375567.1(FOCAD):c.699+5G>T
NM_001375567.1(FOCAD):c.700-12T>G
NM_001375567.1(FOCAD):c.700-13C>G
NM_001375567.1(FOCAD):c.700-14A>G
NM_001375567.1(FOCAD):c.701T>C (p.Val234Ala)
NM_001375567.1(FOCAD):c.707A>G (p.Asp236Gly)
NM_001375567.1(FOCAD):c.715C>G (p.Gln239Glu)
NM_001375567.1(FOCAD):c.719C>T (p.Thr240Ile)
NM_001375567.1(FOCAD):c.728C>T (p.Ala243Val)
NM_001375567.1(FOCAD):c.729G>A (p.Ala243=)
NM_001375567.1(FOCAD):c.738T>C (p.Phe246=)
NM_001375567.1(FOCAD):c.750A>G (p.Val250=)
NM_001375567.1(FOCAD):c.758G>A (p.Ser253Asn)
NM_001375567.1(FOCAD):c.767G>A (p.Arg256His)
NM_001375567.1(FOCAD):c.782G>A (p.Trp261Ter)
NM_001375567.1(FOCAD):c.80C>T (p.Ala27Val)
NM_001375567.1(FOCAD):c.834C>T (p.Val278=)
NM_001375567.1(FOCAD):c.857G>A (p.Cys286Tyr)
NM_001375567.1(FOCAD):c.892G>T (p.Glu298Ter)
NM_001375567.1(FOCAD):c.895C>G (p.Leu299Val)
NM_001375567.1(FOCAD):c.904G>A (p.Glu302Lys)
NM_001375567.1(FOCAD):c.906+20A>T
NM_001375567.1(FOCAD):c.907-16C>T
NM_001375567.1(FOCAD):c.907-19T>C
NM_001375567.1(FOCAD):c.916G>T (p.Val306Phe)
NM_001375567.1(FOCAD):c.922C>T (p.Leu308=)
NM_001375567.1(FOCAD):c.932T>C (p.Ile311Thr)
NM_001375567.1(FOCAD):c.935G>A (p.Gly312Glu)
NM_001375567.1(FOCAD):c.938T>C (p.Ile313Thr)
NM_001375567.1(FOCAD):c.945A>G (p.Leu315=)
NM_001375567.1(FOCAD):c.948A>G (p.Leu316=)
NM_001375567.1(FOCAD):c.953T>A (p.Leu318Gln)
NM_001375567.1(FOCAD):c.970C>G (p.Gln324Glu)
NM_001375567.1(FOCAD):c.995-17A>G
NM_001375567.1(FOCAD):c.995-227_995-226del rs35990387
NM_001375567.1(FOCAD):c.995-8A>G
NM_001375567.1(FOCAD):c.999G>A (p.Leu333=)

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.