| 401863100 | CV2776675 | single nucleotide variant | NM_001133.2(AFM):c.79C>T (p.Arg27Trp) | not specified [RCV004357840] | uncertain significance | 4 | 73481854 | 73481854 | Human | | name |
| 405776858 | CV3249952 | single nucleotide variant | NM_001133.2(AFM):c.99T>G (p.Asn33Lys) | not specified [RCV004386108] | uncertain significance | 4 | 73483951 | 73483951 | Human | | name |
| 407498509 | CV3437990 | single nucleotide variant | NM_001133.2(AFM):c.97A>G (p.Asn33Asp) | not specified [RCV004622477] | uncertain significance | 4 | 73483949 | 73483949 | Human | | name |
| 156141776 | CV2208452 | single nucleotide variant | NM_001133.2(AFM):c.238G>A (p.Asp80Asn) | not specified [RCV004090991] | uncertain significance | 4 | 73484358 | 73484358 | Human | | name |
| 155903572 | CV2282252 | single nucleotide variant | NM_001133.2(AFM):c.205G>T (p.Asp69Tyr) | not specified [RCV004133093] | uncertain significance | 4 | 73484325 | 73484325 | Human | | name |
| 401876899 | CV2767756 | single nucleotide variant | NM_001133.2(AFM):c.106C>A (p.Gln36Lys) | not specified [RCV004345883] | uncertain significance | 4 | 73483958 | 73483958 | Human | | name |
| 401898459 | CV2787938 | single nucleotide variant | NM_001133.2(AFM):c.172G>C (p.Ala58Pro) | not specified [RCV004358597] | uncertain significance | 4 | 73484292 | 73484292 | Human | | name |
| 401875432 | CV2792015 | single nucleotide variant | NM_001133.2(AFM):c.257G>T (p.Cys86Phe) | not specified [RCV004359423] | uncertain significance | 4 | 73484377 | 73484377 | Human | | name |
| 405776713 | CV3249929 | single nucleotide variant | NM_001133.2(AFM):c.245C>T (p.Thr82Met) | not specified [RCV004386085] | uncertain significance | 4 | 73484365 | 73484365 | Human | | name |
| 597662065 | CV3666753 | single nucleotide variant | NM_001133.2(AFM):c.275A>C (p.Asn92Thr) | not specified [RCV004912002] | uncertain significance | 4 | 73485866 | 73485866 | Human | | name |
| 597662137 | CV3666762 | single nucleotide variant | NM_001133.2(AFM):c.158A>G (p.Gln53Arg) | not specified [RCV004912010] | uncertain significance | 4 | 73484278 | 73484278 | Human | | name |
| 597734298 | CV3666790 | single nucleotide variant | NM_001133.2(AFM):c.284A>G (p.Gln95Arg) | not specified [RCV004920235] | uncertain significance | 4 | 73485875 | 73485875 | Human | | name |
| 597662346 | CV3666795 | single nucleotide variant | NM_001133.2(AFM):c.220A>G (p.Lys74Glu) | not specified [RCV004912035] | uncertain significance | 4 | 73484340 | 73484340 | Human | | name |
| 156135129 | CV2213303 | single nucleotide variant | NM_001133.2(AFM):c.799G>T (p.Asp267Tyr) | not specified [RCV004085515] | uncertain significance | 4 | 73488715 | 73488715 | Human | | name |
| 155978811 | CV2222759 | single nucleotide variant | NM_001133.2(AFM):c.992G>A (p.Gly331Glu) | not specified [RCV004101600] | uncertain significance | 4 | 73492020 | 73492020 | Human | | name |
| 156335445 | CV2272870 | single nucleotide variant | NM_001133.2(AFM):c.448G>C (p.Ala150Pro) | not specified [RCV004135773] | uncertain significance | 4 | 73486039 | 73486039 | Human | | name |
| 156346766 | CV2305484 | single nucleotide variant | NM_001133.2(AFM):c.999T>A (p.Phe333Leu) | not specified [RCV004165198] | uncertain significance | 4 | 73492027 | 73492027 | Human | | name |
| 155951515 | CV2309685 | single nucleotide variant | NM_001133.2(AFM):c.599A>C (p.Asn200Thr) | not specified [RCV004160821] | uncertain significance | 4 | 73487083 | 73487083 | Human | | name |
| 156070782 | CV2318918 | single nucleotide variant | NM_001133.2(AFM):c.350T>A (p.Val117Asp) | not specified [RCV004175813] | uncertain significance | 4 | 73485941 | 73485941 | Human | | name |
| 156402405 | CV2363972 | single nucleotide variant | NM_001133.2(AFM):c.835C>T (p.Arg279Cys) | not specified [RCV004218939] | uncertain significance | 4 | 73488751 | 73488751 | Human | | name |
| 156208810 | CV2382548 | single nucleotide variant | NM_001133.2(AFM):c.722C>T (p.Ala241Val) | not specified [RCV004232878] | uncertain significance | 4 | 73488638 | 73488638 | Human | | name |
| 329371934 | CV2454992 | single nucleotide variant | NM_001133.2(AFM):c.773T>C (p.Leu258Pro) | not specified [RCV004272256] | uncertain significance | 4 | 73488689 | 73488689 | Human | | name |
| 401755814 | CV2675505 | single nucleotide variant | NM_001133.2(AFM):c.632A>G (p.Gln211Arg) | not specified [RCV004295122] | uncertain significance | 4 | 73487740 | 73487740 | Human | | name |
| 401861779 | CV2756681 | single nucleotide variant | NM_001133.2(AFM):c.409C>T (p.Pro137Ser) | not specified [RCV004345192] | uncertain significance | 4 | 73486000 | 73486000 | Human | | name |
| 405776719 | CV3249930 | single nucleotide variant | NM_001133.2(AFM):c.510C>A (p.Asn170Lys) | not specified [RCV004386086] | uncertain significance | 4 | 73486994 | 73486994 | Human | | name |
| 405776725 | CV3249931 | single nucleotide variant | NM_001133.2(AFM):c.541G>A (p.Val181Ile) | not specified [RCV004386087] | uncertain significance | 4 | 73487025 | 73487025 | Human | | name |
| 407498469 | CV3437980 | single nucleotide variant | NM_001133.2(AFM):c.806G>A (p.Cys269Tyr) | not specified [RCV004622467] | uncertain significance | 4 | 73488722 | 73488722 | Human | | name |
| 407498539 | CV3437999 | single nucleotide variant | NM_001133.2(AFM):c.416T>C (p.Phe139Ser) | not specified [RCV004622486] | uncertain significance | 4 | 73486007 | 73486007 | Human | | name |
| 597661702 | CV3666700 | single nucleotide variant | NM_001133.2(AFM):c.929G>A (p.Arg310His) | not specified [RCV004911959] | uncertain significance | 4 | 73491957 | 73491957 | Human | | name |
| 597661772 | CV3666710 | single nucleotide variant | NM_001133.2(AFM):c.663A>C (p.Lys221Asn) | not specified [RCV004911968] | uncertain significance | 4 | 73487771 | 73487771 | Human | | name |
| 597661862 | CV3666721 | single nucleotide variant | NM_001133.2(AFM):c.800A>G (p.Asp267Gly) | not specified [RCV004911978] | uncertain significance | 4 | 73488716 | 73488716 | Human | | name |
| 597661946 | CV3666732 | single nucleotide variant | NM_001133.2(AFM):c.299C>T (p.Ala100Val) | not specified [RCV004911988] | uncertain significance | 4 | 73485890 | 73485890 | Human | | name |
| 597734266 | CV3666770 | single nucleotide variant | NM_001133.2(AFM):c.579T>G (p.Cys193Trp) | not specified [RCV004920229] | uncertain significance | 4 | 73487063 | 73487063 | Human | | name |
| 597662241 | CV3666781 | single nucleotide variant | NM_001133.2(AFM):c.697A>C (p.Lys233Gln) | not specified [RCV004912023] | likely benign | 4 | 73487805 | 73487805 | Human | | name |
| 597662354 | CV3666796 | single nucleotide variant | NM_001133.2(AFM):c.748A>T (p.Ile250Phe) | not specified [RCV004912036] | uncertain significance | 4 | 73488664 | 73488664 | Human | | name |
| 598185072 | CV3960387 | single nucleotide variant | NM_001133.2(AFM):c.631C>A (p.Gln211Lys) | not specified [RCV005333797] | uncertain significance | 4 | 73487739 | 73487739 | Human | | name |
| 598185354 | CV3960434 | single nucleotide variant | NM_001133.2(AFM):c.308G>A (p.Gly103Glu) | not specified [RCV005333844] | uncertain significance | 4 | 73485899 | 73485899 | Human | | name |
| 598185424 | CV3960445 | single nucleotide variant | NM_001133.2(AFM):c.464G>C (p.Arg155Thr) | not specified [RCV005333855] | uncertain significance | 4 | 73486055 | 73486055 | Human | | name |
| 598185569 | CV3960468 | single nucleotide variant | NM_001133.2(AFM):c.587A>G (p.Gln196Arg) | not specified [RCV005333878] | uncertain significance | 4 | 73487071 | 73487071 | Human | | name |
| 8631273 | CV86433 | single nucleotide variant | NM_001133.2(AFM):c.493G>A (p.Glu165Lys) | Malignant melanoma [RCV000066524] | not provided | 4 | 73486977 | 73486977 | Human | | name |
| 156142502 | CV2200017 | single nucleotide variant | NM_001133.2(AFM):c.1689T>G (p.Asp563Glu) | not specified [RCV004074178] | uncertain significance | 4 | 73501829 | 73501829 | Human | | name |
| 156135461 | CV2213395 | single nucleotide variant | NM_001133.2(AFM):c.1302G>C (p.Arg434Ser) | not specified [RCV004087378] | uncertain significance | 4 | 73499126 | 73499126 | Human | | name |
| 156360237 | CV2269004 | single nucleotide variant | NM_001133.2(AFM):c.1315G>C (p.Ala439Pro) | not specified [RCV004128401] | uncertain significance | 4 | 73499139 | 73499139 | Human | | name |
| 156186497 | CV2302711 | single nucleotide variant | NM_001133.2(AFM):c.1738T>G (p.Cys580Gly) | not specified [RCV004162645] | uncertain significance | 4 | 73501878 | 73501878 | Human | | name |
| 155971310 | CV2309284 | single nucleotide variant | NM_001133.2(AFM):c.1793G>A (p.Gly598Asp) | not specified [RCV004165446] | uncertain significance | 4 | 73503063 | 73503063 | Human | | name |
| 155972309 | CV2334321 | single nucleotide variant | NM_001133.2(AFM):c.1078A>G (p.Arg360Gly) | not specified [RCV004188301] | uncertain significance | 4 | 73495319 | 73495319 | Human | | name |
| 155978151 | CV2338935 | single nucleotide variant | NM_001133.2(AFM):c.1070A>G (p.Glu357Gly) | not specified [RCV004184525] | uncertain significance | 4 | 73495311 | 73495311 | Human | | name |
| 156086874 | CV2341102 | single nucleotide variant | NM_001133.2(AFM):c.1068T>G (p.Phe356Leu) | not specified [RCV004181581] | uncertain significance | 4 | 73495309 | 73495309 | Human | | name |
| 156054276 | CV2344621 | single nucleotide variant | NM_001133.2(AFM):c.1055C>A (p.Ala352Glu) | not specified [RCV004197393] | uncertain significance | 4 | 73492083 | 73492083 | Human | | name |
| 155928677 | CV2369543 | single nucleotide variant | NM_001133.2(AFM):c.1189G>A (p.Ala397Thr) | not specified [RCV004214964] | uncertain significance | 4 | 73495430 | 73495430 | Human | | name |
| 156003318 | CV2399648 | single nucleotide variant | NM_001133.2(AFM):c.1477C>T (p.Pro493Ser) | not specified [RCV004244163] | uncertain significance | 4 | 73500058 | 73500058 | Human | | name |
| 156225411 | CV2399649 | single nucleotide variant | NM_001133.2(AFM):c.1478C>G (p.Pro493Arg) | not specified [RCV004244164] | uncertain significance | 4 | 73500059 | 73500059 | Human | | name |
| 401731869 | CV2690177 | single nucleotide variant | NM_001133.2(AFM):c.1538T>G (p.Leu513Trp) | not specified [RCV004302189] | uncertain significance | 4 | 73500119 | 73500119 | Human | | name |
| 401725983 | CV2699005 | single nucleotide variant | NM_001133.2(AFM):c.1405G>A (p.Ala469Thr) | not specified [RCV004303530] | uncertain significance | 4 | 73499229 | 73499229 | Human | | name |
| 401779118 | CV2702176 | single nucleotide variant | NM_001133.2(AFM):c.1354G>A (p.Glu452Lys) | not specified [RCV004314526] | likely benign | 4 | 73499178 | 73499178 | Human | | name |
| 401760475 | CV2705933 | single nucleotide variant | NM_001133.2(AFM):c.1658A>T (p.Asn553Ile) | not specified [RCV004320859] | uncertain significance | 4 | 73501798 | 73501798 | Human | | name |
| 401746680 | CV2731904 | single nucleotide variant | NM_001133.2(AFM):c.1007G>A (p.Ser336Asn) | not specified [RCV004333149] | uncertain significance | 4 | 73492035 | 73492035 | Human | | name |
| 401884870 | CV2774882 | single nucleotide variant | NM_001133.2(AFM):c.1117A>G (p.Ile373Val) | not specified [RCV004343962] | uncertain significance | 4 | 73495358 | 73495358 | Human | | name |
| 401891915 | CV2780786 | single nucleotide variant | NM_001133.2(AFM):c.1363G>T (p.Val455Leu) | not specified [RCV004352109] | uncertain significance | 4 | 73499187 | 73499187 | Human | | name |
| 405776532 | CV3249875 | single nucleotide variant | NM_001133.2(AFM):c.1021C>G (p.Gln341Glu) | not specified [RCV004386031] | likely benign | 4 | 73492049 | 73492049 | Human | | name |
| 405777238 | CV3249894 | single nucleotide variant | NM_001133.2(AFM):c.1208A>G (p.Glu403Gly) | not specified [RCV004386050] | uncertain significance | 4 | 73497668 | 73497668 | Human | | name |
| 405776585 | CV3249908 | single nucleotide variant | NM_001133.2(AFM):c.1433T>G (p.Val478Gly) | not specified [RCV004386064] | uncertain significance | 4 | 73500014 | 73500014 | Human | | name |
| 597662006 | CV3666743 | single nucleotide variant | NM_001133.2(AFM):c.1055C>T (p.Ala352Val) | not specified [RCV004911995] | uncertain significance | 4 | 73492083 | 73492083 | Human | | name |
| 597662364 | CV3666802 | single nucleotide variant | NM_001133.2(AFM):c.1703C>G (p.Ser568Cys) | not specified [RCV004912037] | uncertain significance | 4 | 73501843 | 73501843 | Human | | name |
| 597662373 | CV3666804 | single nucleotide variant | NM_001133.2(AFM):c.1101A>G (p.Ile367Met) | not specified [RCV004912038] | uncertain significance | 4 | 73495342 | 73495342 | Human | | name |
| 598185232 | CV3960415 | single nucleotide variant | NM_001133.2(AFM):c.1391T>C (p.Leu464Pro) | not specified [RCV005333825] | uncertain significance | 4 | 73499215 | 73499215 | Human | | name |
| 598185497 | CV3960457 | single nucleotide variant | NM_001133.2(AFM):c.1700A>G (p.Gln567Arg) | not specified [RCV005333867] | uncertain significance | 4 | 73501840 | 73501840 | Human | | name |
| 405776938 | CV3249964 | single nucleotide variant | NM_001010982.5(AFMID):c.4A>G (p.Met2Val) | not specified [RCV004386120] | uncertain significance | 17 | 78187374 | 78187374 | Human | | name |
| 156037399 | CV2243781 | single nucleotide variant | NM_001010982.5(AFMID):c.98T>C (p.Val33Ala) | not specified [RCV004114472] | uncertain significance | 17 | 78191004 | 78191004 | Human | | name |
| 401906591 | CV2808445 | single nucleotide variant | NM_001010982.5(AFMID):c.618A>G (p.Ser206=) | not provided [RCV003421515] | likely benign | 17 | 78205492 | 78205492 | Human | | name |
| 401906592 | CV2808446 | single nucleotide variant | NM_001010982.5(AFMID):c.861C>T (p.Thr287=) | not provided [RCV003421516] | likely benign | 17 | 78206026 | 78206026 | Human | | name |
| 597662582 | CV3666870 | single nucleotide variant | NM_001010982.5(AFMID):c.79T>C (p.Tyr27His) | not specified [RCV004912069] | uncertain significance | 17 | 78190985 | 78190985 | Human | | name |
| 598185860 | CV3960516 | single nucleotide variant | NM_001010982.5(AFMID):c.32G>C (p.Ser11Thr) | not specified [RCV005333926] | uncertain significance | 17 | 78187402 | 78187402 | Human | | name |
| 156071282 | CV2365295 | single nucleotide variant | NM_001010982.5(AFMID):c.104G>A (p.Arg35Gln) | not specified [RCV004209386] | uncertain significance | 17 | 78191010 | 78191010 | Human | | name |
| 401857878 | CV2774024 | single nucleotide variant | NM_001010982.5(AFMID):c.251C>T (p.Ser84Leu) | not specified [RCV004345633] | uncertain significance | 17 | 78202595 | 78202595 | Human | | name |
| 597662390 | CV3666828 | single nucleotide variant | NM_001010982.5(AFMID):c.122C>A (p.Ala41Asp) | not specified [RCV004912040] | uncertain significance | 17 | 78191028 | 78191028 | Human | | name |
| 597662551 | CV3666863 | single nucleotide variant | NM_001010982.5(AFMID):c.185G>A (p.Ser62Asn) | not specified [RCV004912064] | uncertain significance | 17 | 78202529 | 78202529 | Human | | name |
| 598185901 | CV3960524 | single nucleotide variant | NM_001010982.5(AFMID):c.232A>G (p.Ile78Val) | not specified [RCV005333934] | uncertain significance | 17 | 78202576 | 78202576 | Human | | name |
| 598185918 | CV3960527 | single nucleotide variant | NM_001010982.5(AFMID):c.256G>A (p.Glu86Lys) | not specified [RCV005333937] | uncertain significance | 17 | 78202600 | 78202600 | Human | | name |
| 598185942 | CV3960533 | single nucleotide variant | NM_001010982.5(AFMID):c.203A>G (p.Tyr68Cys) | not specified [RCV005333943] | uncertain significance | 17 | 78202547 | 78202547 | Human | | name |
| 156118487 | CV2209262 | single nucleotide variant | NM_001010982.5(AFMID):c.613A>G (p.Thr205Ala) | not specified [RCV004093448] | uncertain significance | 17 | 78205487 | 78205487 | Human | | name |
| 156383835 | CV2220220 | single nucleotide variant | NM_001010982.5(AFMID):c.520C>T (p.Leu174Phe) | not specified [RCV004095671] | uncertain significance | 17 | 78205145 | 78205145 | Human | | name |
| 156022340 | CV2223150 | single nucleotide variant | NM_001010982.5(AFMID):c.331G>C (p.Val111Leu) | not specified [RCV004103995] | uncertain significance | 17 | 78204678 | 78204678 | Human | | name |
| 156121033 | CV2233837 | single nucleotide variant | NM_001010982.5(AFMID):c.418C>A (p.Gln140Lys) | not specified [RCV004102054] | uncertain significance | 17 | 78204851 | 78204851 | Human | | name |
| 156026097 | CV2242319 | single nucleotide variant | NM_001010982.5(AFMID):c.398C>A (p.Thr133Asn) | not specified [RCV004111334] | uncertain significance | 17 | 78204831 | 78204831 | Human | | name |
| 156169722 | CV2247335 | single nucleotide variant | NM_001010982.5(AFMID):c.883C>G (p.Gln295Glu) | not specified [RCV004108681] | uncertain significance | 17 | 78206048 | 78206048 | Human | | name |
| 155980677 | CV2336943 | single nucleotide variant | NM_001010982.5(AFMID):c.577G>C (p.Val193Leu) | not specified [RCV004192718] | uncertain significance | 17 | 78205451 | 78205451 | Human | | name |
| 155913419 | CV2341775 | single nucleotide variant | NM_001010982.5(AFMID):c.695C>T (p.Pro232Leu) | not specified [RCV004184733] | uncertain significance | 17 | 78205653 | 78205653 | Human | | name |
| 156154859 | CV2374967 | single nucleotide variant | NM_001010982.5(AFMID):c.377A>G (p.Tyr126Cys) | not specified [RCV004227982] | uncertain significance | 17 | 78204724 | 78204724 | Human | | name |
| 156030907 | CV2380917 | single nucleotide variant | NM_001010982.5(AFMID):c.844A>G (p.Ile282Val) | not specified [RCV004220503] | uncertain significance | 17 | 78206009 | 78206009 | Human | | name |
| 156198982 | CV2392219 | single nucleotide variant | NM_001010982.5(AFMID):c.740A>T (p.Asp247Val) | not specified [RCV004243831] | uncertain significance | 17 | 78205698 | 78205698 | Human | | name |
| 401732451 | CV2691012 | single nucleotide variant | NM_001010982.5(AFMID):c.304G>A (p.Gly102Arg) | not specified [RCV004301029] | uncertain significance | 17 | 78202747 | 78202747 | Human | | name |
| 401770649 | CV2707330 | single nucleotide variant | NM_001010982.5(AFMID):c.577G>A (p.Val193Met) | not specified [RCV004312733] | uncertain significance | 17 | 78205451 | 78205451 | Human | | name |
| 401784302 | CV2721248 | single nucleotide variant | NM_001010982.5(AFMID):c.873C>A (p.Asn291Lys) | not specified [RCV004330183] | uncertain significance | 17 | 78206038 | 78206038 | Human | | name |
| 401757333 | CV2734951 | single nucleotide variant | NM_001010982.5(AFMID):c.379G>A (p.Gly127Ser) | not specified [RCV004333658] | uncertain significance | 17 | 78204726 | 78204726 | Human | | name |
| 405776917 | CV3249961 | single nucleotide variant | NM_001010982.5(AFMID):c.407A>G (p.His136Arg) | not specified [RCV004386117] | uncertain significance | 17 | 78204840 | 78204840 | Human | | name |
| 405777353 | CV3249974 | single nucleotide variant | NM_001010982.5(AFMID):c.607G>A (p.Val203Met) | not specified [RCV004386130] | likely benign | 17 | 78205481 | 78205481 | Human | | name |
| 405777031 | CV3249979 | single nucleotide variant | NM_001010982.5(AFMID):c.713G>A (p.Arg238His) | not specified [RCV004386135] | uncertain significance | 17 | 78205671 | 78205671 | Human | | name |
| 405777037 | CV3249980 | single nucleotide variant | NM_001010982.5(AFMID):c.727G>A (p.Val243Met) | not specified [RCV004386136] | uncertain significance | 17 | 78205685 | 78205685 | Human | | name |
| 405777096 | CV3249989 | single nucleotide variant | NM_001010982.5(AFMID):c.797A>G (p.Glu266Gly) | not specified [RCV004386145] | likely benign | 17 | 78205962 | 78205962 | Human | | name |
| 405777150 | CV3249997 | single nucleotide variant | NM_001010982.5(AFMID):c.837C>G (p.His279Gln) | not specified [RCV004386153] | uncertain significance | 17 | 78206002 | 78206002 | Human | | name |
| 405777453 | CV3250022 | single nucleotide variant | NM_001010982.5(AFMID):c.874G>A (p.Val292Met) | not specified [RCV004386178] | uncertain significance | 17 | 78206039 | 78206039 | Human | | name |
| 597662382 | CV3666810 | single nucleotide variant | NM_001010982.5(AFMID):c.739G>A (p.Asp247Asn) | not specified [RCV004912039] | uncertain significance | 17 | 78205697 | 78205697 | Human | | name |
| 597734304 | CV3666832 | single nucleotide variant | NM_001010982.5(AFMID):c.368T>C (p.Ile123Thr) | not specified [RCV004920236] | uncertain significance | 17 | 78204715 | 78204715 | Human | | name |
| 597734317 | CV3666841 | single nucleotide variant | NM_001010982.5(AFMID):c.496G>A (p.Gly166Arg) | not specified [RCV004920238] | uncertain significance | 17 | 78205121 | 78205121 | Human | | name |
| 597662485 | CV3666852 | single nucleotide variant | NM_001010982.5(AFMID):c.901A>G (p.Ile301Val) | not specified [RCV004912054] | uncertain significance | 17 | 78206926 | 78206926 | Human | | name |
| 598185641 | CV3960479 | single nucleotide variant | NM_001010982.5(AFMID):c.452G>A (p.Arg151Gln) | not specified [RCV005333889] | likely benign | 17 | 78204885 | 78204885 | Human | | name |
| 598185816 | CV3960507 | single nucleotide variant | NM_001010982.5(AFMID):c.835C>T (p.His279Tyr) | not specified [RCV005333917] | uncertain significance | 17 | 78206000 | 78206000 | Human | | name |
| 598185835 | CV3960511 | single nucleotide variant | NM_001010982.5(AFMID):c.529G>A (p.Asp177Asn) | not specified [RCV005333921] | likely benign | 17 | 78205154 | 78205154 | Human | | name |