NC_000004.12:g.(?_5729297)_(5758135_?)del


NC_000004.12:g.(?_5797002)_(5797252_?)del


NC_000004.12:g.5752871_5756875del


NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)

rs121908425 
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)

rs34947207 
NM_153717.3(EVC):c.1041G>A (p.Thr347=)

rs148418233 
NM_153717.3(EVC):c.1041G>T (p.Thr347=)

rs148418233 
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)

rs1560259105 
NM_153717.3(EVC):c.1050G>C (p.Met350Ile)


NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)

rs1553873969 
NM_153717.3(EVC):c.1059C>T (p.Ala353=)

rs756025432 
NM_153717.3(EVC):c.105C>A (p.Gly35=)

rs745558003 
NM_153717.3(EVC):c.1096C>T (p.Leu366=)

rs6854138 
NM_153717.3(EVC):c.1101C>T (p.Asp367=)

rs186537549 
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)

rs142535134 
NM_153717.3(EVC):c.1128G>A (p.Ala376=)

rs111234281 
NM_153717.3(EVC):c.114C>T (p.Leu38=)

rs1167442380 
NM_153717.3(EVC):c.1206C>T (p.His402=)

rs756589627 
NM_153717.3(EVC):c.1226G>T (p.Gly409Val)

rs1577440027 
NM_153717.3(EVC):c.1242C>T (p.Ser414=)

rs769206763 
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs)


NM_153717.3(EVC):c.1269G>A (p.Thr423=)

rs551881521 
NM_153717.3(EVC):c.1312del (p.Arg438fs)

rs1560340993 
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)

rs373718642 
NM_153717.3(EVC):c.1315+8G>A

rs550411377 
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)

rs60582583 
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)

rs202150959 
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)

rs35953626 
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)

rs116952023 
NM_153717.3(EVC):c.1350G>A (p.Ala450=)

rs752575646 
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)

rs141859946 
NM_153717.3(EVC):c.1387dup (p.Thr463fs)


NM_153717.3(EVC):c.1428G>C (p.Glu476Asp)

rs571637567 
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)

rs376440801 
NM_153717.3(EVC):c.1464+5C>T

rs369734950 
NM_153717.3(EVC):c.1464+8A>G

rs116236414 
NM_153717.3(EVC):c.1482G>A (p.Leu494=)

rs371300088 
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)

rs1577453796 
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)

rs149898884 
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)

rs143971158 
NM_153717.3(EVC):c.1536C>T (p.Ala512=)

rs368554773 
NM_153717.3(EVC):c.153_174+42del


NM_153717.3(EVC):c.155del (p.Arg52fs)


NM_153717.3(EVC):c.15646C>T

rs188245524 
NM_153717.3(EVC):c.15647G>A

rs201739032 
NM_153717.3(EVC):c.1603G>A (p.Val535Met)

rs753720935 
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)

rs147772724 
NM_153717.3(EVC):c.162C>T (p.Arg54=)

rs1305323625 
NM_153717.3(EVC):c.1636A>G (p.Met546Val)

rs112608085 
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)

rs371682994 
NM_153717.3(EVC):c.1653G>A (p.Pro551=)

rs151293705 
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)

rs764397417 
NM_153717.3(EVC):c.1692C>T (p.Asn564=)

rs138242443 
NM_153717.3(EVC):c.1694del (p.Ala565fs)

rs753014919 
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)

rs144943762 
NM_153717.3(EVC):c.1707G>C (p.Leu569=)

rs575586341 
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)


NM_153717.3(EVC):c.174+7C>T

rs1577297959 
NM_153717.3(EVC):c.17510C>T

rs113406354 
NM_153717.3(EVC):c.1770C>T (p.Asp590=)

rs141755737 
NM_153717.3(EVC):c.1776+7G>A

rs750719632 
NM_153717.3(EVC):c.1776+7del

rs540001390 
NM_153717.3(EVC):c.17771G>A

rs1262933856 
NM_153717.3(EVC):c.17772A>G

rs909612975 
NM_153717.3(EVC):c.17776G>A

rs565093715 
NM_153717.3(EVC):c.17778G>A

rs760016211 
NM_153717.3(EVC):c.17779C>T

rs113468936 
NM_153717.3(EVC):c.1797G>A (p.Ala599=)

rs199875230 
NM_153717.3(EVC):c.180C>T (p.Asp60=)

rs755788871 
NM_153717.3(EVC):c.1818A>C (p.Thr606=)

rs202093497 
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)

rs41269557 
NM_153717.3(EVC):c.1851C>G (p.Arg617=)

rs967986192 
NM_153717.3(EVC):c.1854C>A (p.Gly618=)

rs11737221 
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)

rs111293777 
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)


NM_153717.3(EVC):c.1878C>T (p.Leu626=)

rs375743004 
NM_153717.3(EVC):c.1886+1G>C


NM_153717.3(EVC):c.1886+2T>G


NM_153717.3(EVC):c.18875_1904del

rs779275317 
NM_153717.3(EVC):c.1896G>T (p.Arg632=)

rs758327867 
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)

rs35401386 
NM_153717.3(EVC):c.1944G>A (p.Arg648=)

rs1577616662 
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)

rs149344570 
NM_153717.3(EVC):c.1980G>A (p.Thr660=)

rs537471996 
NM_153717.3(EVC):c.1995G>A (p.Ser665=)

rs142897994 
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter)


NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)

rs201877358 
NM_153717.3(EVC):c.209810T>C

rs774109576 
NM_153717.3(EVC):c.20982A>G


NM_153717.3(EVC):c.2103G>A (p.Ala701=)

rs766383397 
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)


NM_153717.3(EVC):c.2146C>T (p.Gln716Ter)


NM_153717.3(EVC):c.2164C>T (p.Gln722Ter)

rs1553891936 
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)

rs1446547358 
NM_153717.3(EVC):c.2241G>A (p.Ala747=)

rs142094016 
NM_153717.3(EVC):c.225C>T (p.Thr75=)

rs200161588 
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)

rs201776972 
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp)

rs200479973 
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln)

rs2279252 
NM_153717.3(EVC):c.2298C>T (p.Asp766=)

rs140546984 
NM_153717.3(EVC):c.23056C>T

rs781705295 
NM_153717.3(EVC):c.2322G>A (p.Ala774=)

rs150373930 
NM_153717.3(EVC):c.2322G>C (p.Ala774=)

rs150373930 
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)


NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)

rs773252806 
NM_153717.3(EVC):c.2341G>A (p.Val781Met)

rs370514515 
NM_153717.3(EVC):c.2363G>A (p.Arg788His)

rs73795088 
NM_153717.3(EVC):c.2373G>A (p.Gln791=)

rs73795089 
NM_153717.3(EVC):c.2376G>A (p.Ala792=)

rs1005244629 
NM_153717.3(EVC):c.2412C>T (p.His804=)

rs553232598 
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter)


NM_153717.3(EVC):c.2449+10C>A

rs758387379 
NM_153717.3(EVC):c.2449+10C>T

rs758387379 
NM_153717.3(EVC):c.2505G>A (p.Ser835=)

rs115976359 
NM_153717.3(EVC):c.2550G>A (p.Ala850=)

rs754053651 
NM_153717.3(EVC):c.25622A>G

rs1293098417 
NM_153717.3(EVC):c.25623C>T

rs375960614 
NM_153717.3(EVC):c.25623_2584del

rs1577663625 
NM_153717.3(EVC):c.25624C>A

rs60082311 
NM_153717.3(EVC):c.25624C>G

rs60082311 
NM_153717.3(EVC):c.2624A>T (p.His875Leu)

rs200403160 
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)

rs121908424 
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)

rs143678893 
NM_153717.3(EVC):c.2712C>T (p.Ser904=)

rs146829332 
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)


NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)


NM_153717.3(EVC):c.2757G>T (p.Leu919=)

rs1219650896 
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser)


NM_153717.3(EVC):c.2782+1G>T

rs1007534611 
NM_153717.3(EVC):c.2782+9C>T

rs768005359 
NM_153717.3(EVC):c.2805G>A (p.Arg935=)

rs143631233 
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter)

rs896581899 
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)

rs41269547 
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)

rs35926225 
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)

rs35287723 
NM_153717.3(EVC):c.2894+3A>G

rs1424976594 
NM_153717.3(EVC):c.28954T>C

rs775049818 
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)

rs150173231 
NM_153717.3(EVC):c.2961G>A (p.Lys987=)

rs138808610 
NM_153717.3(EVC):c.312G>A (p.Pro104=)

rs763930196 
NM_153717.3(EVC):c.339C>T (p.Phe113=)

rs750461424 
NM_153717.3(EVC):c.341C>T (p.Ala114Val)

rs16837598 
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)

rs748523193 
NM_153717.3(EVC):c.442T>C (p.Leu148=)

rs139931919 
NM_153717.3(EVC):c.462G>A (p.Glu154=)

rs1019139111 
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)

rs146729456 
NM_153717.3(EVC):c.473C>G (p.Ser158Cys)

rs150284356 
NM_153717.3(EVC):c.510C>T (p.Asp170=)

rs757930422 
NM_153717.3(EVC):c.532G>A (p.Val178Ile)

rs144897690 
NM_153717.3(EVC):c.534C>A (p.Val178=)

rs774703104 
NM_153717.3(EVC):c.549C>T (p.Ser183=)

rs201071908 
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)

rs41269549 
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)


NM_153717.3(EVC):c.589G>T (p.Ala197Ser)

rs115507440 
NM_153717.3(EVC):c.612C>A (p.Cys204Ter)


NM_153717.3(EVC):c.612C>T (p.Cys204=)

rs553634958 
NM_153717.3(EVC):c.617+1G>A


NM_153717.3(EVC):c.617G>A (p.Ser206Asn)

rs1017946059 
NM_153717.3(EVC):c.698dup (p.His233fs)

rs1553867117 
NM_153717.3(EVC):c.7031G>C


NM_153717.3(EVC):c.717T>A (p.Ile239=)

rs372312182 
NM_153717.3(EVC):c.724dup (p.Met242fs)

rs1577395250 
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro)

rs529818833 
NM_153717.3(EVC):c.759A>G (p.Ser253=)

rs201105095 
NM_153717.3(EVC):c.780G>A (p.Lys260=)

rs41269555 
NM_153717.3(EVC):c.809A>C (p.Glu270Ala)

rs1428021249 
NM_153717.3(EVC):c.829C>T (p.Gln277Ter)


NM_153717.3(EVC):c.867T>G (p.Gly289=)

rs758866277 
NM_153717.3(EVC):c.873dup (p.Glu292Ter)

rs527255616 
NM_153717.3(EVC):c.882C>T (p.Ile294=)

rs375414448 
NM_153717.3(EVC):c.899A>C (p.Glu300Ala)

rs149529742 
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)

rs886044558 
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)

rs756852655 
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del)

rs755381180 
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs)


NM_153717.3(EVC):c.920C>G (p.Ser307Cys)

rs372548610 
NM_153717.3(EVC):c.928C>G (p.Leu310Val)

rs145300726 
NM_153717.3(EVC):c.933C>T (p.Ile311=)

rs759718572 
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)

rs115275195 
NM_153717.3(EVC):c.939+1G>A


NM_153717.3(EVC):c.939+9C>T

rs201282320 
NM_153717.3(EVC):c.973C>T (p.Gln325Ter)


NM_153717.3(EVC):c.982C>T (p.Leu328Phe)

rs199916502 