ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3567
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr) rs148934011 0.00031
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750 0.00022
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019 0.00019
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile) rs200862250 0.00019
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys) rs146371390 0.00018
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00017
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) rs782577519 0.00015
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg) rs201989363 0.00013
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser) rs766355858 0.00013
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp) rs749401561 0.00013
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg) rs747124369 0.00012
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe) rs765852654 0.00012
NM_002139.4(RBMX):c.389-8T>C rs181515589 0.00011
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00011
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly) rs748977074 0.00011
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu) rs372445055 0.00011
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001289.6(CLIC2):c.19G>A (p.Gly7Ser) rs782061657 0.00010
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp) rs769458536 0.00010
NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu) rs1006077682 0.00010
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874 0.00009
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr) rs370078729 0.00009
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr) rs186554435 0.00009
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_004606.5(TAF1):c.1237G>A (p.Asp413Asn) rs367907623 0.00009
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His) rs756836341 0.00009
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val) rs200478641 0.00008
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup) rs773508976 0.00008
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile) rs201764553 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362 0.00007
NM_031206.7(LAS1L):c.754G>A (p.Val252Met) rs762043715 0.00007
NM_031206.7(LAS1L):c.940G>A (p.Val314Ile) rs137948118 0.00007
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) rs374676402 0.00007
NM_000489.6(ATRX):c.189G>A (p.Glu63=) rs587778082 0.00006
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser) rs782409603 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys) rs746274631 0.00006
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly) rs141368794 0.00006
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln) rs192628082 0.00006
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val) rs764849779 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp) rs781533684 0.00006
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr) rs138433243 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_000489.6(ATRX):c.1169G>A (p.Arg390His) rs367986587 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.1478A>G (p.His493Arg) rs947189709 0.00005
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly) rs148513102 0.00005
NM_000489.6(ATRX):c.2133T>G (p.Pro711=) rs782781621 0.00005
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser) rs371187842 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136 0.00005
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) rs764843382 0.00005
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp) rs201489630 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser) rs763745318 0.00005
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) rs1325807867 0.00005
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His) rs368872920 0.00005
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val) rs189342249 0.00005
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser) rs777494666 0.00005
NM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln) rs746316980 0.00005
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103 0.00005
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn) rs779974166 0.00005
NM_005120.3(MED12):c.4253+4G>A rs750162341 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln) rs138150013 0.00005
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg) rs745748841 0.00005
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr) rs796053394 0.00005
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu) rs749342768 0.00005
NM_006950.3(SYN1):c.944G>A (p.Arg315His) rs370854090 0.00005
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala) rs748247534 0.00005
NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys) rs782246021 0.00005
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro) rs1557249087 0.00005
NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala) rs371394378 0.00005
NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser) rs745313876 0.00005
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser) rs886044864 0.00004
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile) rs782705007 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys) rs369871569 0.00004
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) rs782792216 0.00004
NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser) rs782161982 0.00004
NM_001110556.2(FLNA):c.621G>A (p.Pro207=) rs200632859 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile) rs755456420 0.00004
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys) rs759085956 0.00004
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser) rs771012472 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His) rs371323886 0.00004
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val) rs371109150 0.00004
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val) rs756416451 0.00004
NM_005120.3(MED12):c.1744+4C>T rs780750721 0.00004
NM_005120.3(MED12):c.3691+4C>T rs373381746 0.00004
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln) rs1196582695 0.00004
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser) rs772106134 0.00004
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile) rs1339768860 0.00004
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_006950.3(SYN1):c.946G>A (p.Val316Ile) rs770266055 0.00004
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) rs756316953 0.00004
NM_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu) rs1159715093 0.00004
NM_016032.4(ZDHHC9):c.881+3G>A rs775743190 0.00004
NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys) rs373402338 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) rs770557726 0.00004
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe) rs752649243 0.00004
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568 0.00003
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619 0.00003
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001015877.2(PHF6):c.342A>C (p.Gln114His) rs1303947958 0.00003
NM_001032382.2(PQBP1):c.*8G>A rs376272913 0.00003
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp) rs1467649797 0.00003
NM_001039591.3(USP9X):c.4657C>A (p.Pro1553Thr) rs375616476 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp) rs782755538 0.00003
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys) rs782361719 0.00003
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met) rs1273044438 0.00003
NM_001110556.2(FLNA):c.4474+3G>A rs1286863443 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.4540A>G (p.Ser1514Gly) rs1259214889 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val) rs782714867 0.00003
NM_001110556.2(FLNA):c.6197C>T (p.Ala2066Val) rs2067633292 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu) rs864622713 0.00003
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=) rs587784295 0.00003
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln) rs983417935 0.00003
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe) rs756871980 0.00003
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn) rs796052824 0.00003
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp) rs774986147 0.00003
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser) rs371028786 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met) rs755403368 0.00003
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys) rs775309866 0.00003
NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys) rs1446453794 0.00003
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His) rs373001354 0.00003
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys) rs782166488 0.00003
NM_001830.4(CLCN4):c.11C>T (p.Ala4Val) rs201381518 0.00003
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu) rs763898442 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_005120.3(MED12):c.1619G>A (p.Arg540His) rs774363039 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.448A>G (p.Thr150Ala) rs758980420 0.00003
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 0.00003
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His) rs184634552 0.00003
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu) rs1198466921 0.00003
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys) rs771860069 0.00003
NM_006950.3(SYN1):c.580C>T (p.Arg194Cys) rs138985151 0.00003
NM_015107.3(PHF8):c.2117A>G (p.Tyr706Cys) rs782680617 0.00003
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln) rs753387074 0.00003
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys) rs782376870 0.00003
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His) rs1556915795 0.00003
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val) rs781955237 0.00002
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser) rs1378005125 0.00002
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys) rs1418531949 0.00002
NM_000489.6(ATRX):c.1758A>G (p.Leu586=) rs781987630 0.00002
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val) rs782470087 0.00002
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu) rs1332447363 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000489.6(ATRX):c.3328T>C (p.Ser1110Pro) rs782698480 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp) rs915523218 0.00002
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515 0.00002
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478 0.00002
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser) rs202007952 0.00002
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met) rs767406620 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001032382.2(PQBP1):c.-18-196A>G rs1006576758 0.00002
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) rs1249414837 0.00002
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr) rs757649304 0.00002
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser) rs757541076 0.00002
NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro) rs1256411821 0.00002
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140 0.00002
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln) rs782539251 0.00002
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778 0.00002
NM_001110556.2(FLNA):c.2179G>A (p.Gly727Ser) rs1460177575 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2437G>A (p.Gly813Arg) rs782276414 0.00002
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His) rs1347740802 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile) rs1191721014 0.00002
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser) rs1557176152 0.00002
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe) rs1223954254 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly) rs371563857 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr) rs1313448533 0.00002
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg) rs777851773 0.00002
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met) rs200637767 0.00002
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val) rs796052818 0.00002
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr) rs369703205 0.00002
NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu) rs778640450 0.00002
NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala) rs754791297 0.00002
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln) rs886042264 0.00002
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser) rs781315243 0.00002
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His) rs373996202 0.00002
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser) rs796052823 0.00002
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly) rs369379155 0.00002
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp) rs1309638639 0.00002
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys) rs1602567417 0.00002
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys) rs375132545 0.00002
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) rs794726899 0.00002
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu) rs753757730 0.00002
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His) rs772837341 0.00002
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln) rs200142964 0.00002
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His) rs749526030 0.00002
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu) rs1396289338 0.00002
NM_001330360.2(POLA1):c.1834-3C>T rs757070068 0.00002
NM_001330360.2(POLA1):c.1931A>G (p.Asn644Ser) rs1931360275 0.00002
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val) rs377326713 0.00002
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln) rs782087438 0.00002
NM_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val) rs781938857 0.00002
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu) rs1042357480 0.00002
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser) rs767349582 0.00002
NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu) rs1175919760 0.00002
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) rs751460863 0.00002
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790 0.00002
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp) rs200177996 0.00002
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala) rs1358610598 0.00002
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr) rs1174447128 0.00002
NM_004606.5(TAF1):c.4821+3A>G rs760062431 0.00002
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp) rs1268612180 0.00002
NM_005120.3(MED12):c.2227-4G>A rs751157238 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553 0.00002
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg) rs774937112 0.00002
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg) rs2092345351 0.00002
NM_005120.3(MED12):c.6267+166G>A rs1247198443 0.00002
NM_005634.3(SOX3):c.20A>G (p.Asn7Ser) rs1262847980 0.00002
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln) rs147857235 0.00002
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe) rs759094089 0.00002
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr) rs910550834 0.00002
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val) rs375148460 0.00002
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys) rs138458908 0.00002
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val) rs772936641 0.00002
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys) rs201659924 0.00002
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser) rs765486966 0.00002
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp) rs762284940 0.00002
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr) rs2057893188 0.00002
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) rs750208984 0.00002
NM_015107.3(PHF8):c.-56C>T rs376594438 0.00002
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe) rs1342892989 0.00002
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu) rs748573163 0.00002
NM_016032.4(ZDHHC9):c.160G>A (p.Ala54Thr) rs1003990057 0.00002
NM_016032.4(ZDHHC9):c.331G>T (p.Ala111Ser) rs753548428 0.00002
NM_016032.4(ZDHHC9):c.344C>T (p.Ala115Val) rs1413588337 0.00002
NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His) rs781938996 0.00002
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe) rs781981612 0.00002
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys) rs782659789 0.00002
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys) rs782548063 0.00002
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn) rs372119031 0.00002
NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile) rs761006702 0.00002
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met) rs1190754458 0.00002
NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys) rs762931496 0.00002
NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr) rs750436732 0.00002
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg) rs1370251359 0.00002
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln) rs185347914 0.00002
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln) rs775993429 0.00002
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu) rs780652469 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_000157.4(GBA1):c.695G>A (p.Gly232Glu) rs1376479747 0.00001
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu) rs782128117 0.00001
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly) rs2071414010 0.00001
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu) rs951634317 0.00001
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg) rs782163488 0.00001
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn) rs782313786 0.00001
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr) rs1041529012 0.00001
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser) rs1557141410 0.00001
NM_000489.6(ATRX):c.16A>G (p.Met6Val) rs782080475 0.00001
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser) rs782517450 0.00001
NM_000489.6(ATRX):c.1733C>G (p.Thr578Ser) rs782715901 0.00001
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr) rs1557140828 0.00001
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val) rs1557140749 0.00001
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val) rs1198114357 0.00001
NM_000489.6(ATRX):c.18G>A (p.Met6Ile) rs2076734106 0.00001
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492 0.00001
NM_000489.6(ATRX):c.2057A>G (p.Lys686Arg) rs1557140371 0.00001
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg) rs929951326 0.00001
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu) rs571313578 0.00001
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys) rs918710917 0.00001
NM_000489.6(ATRX):c.224G>T (p.Gly75Val) rs782198677 0.00001
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.2389T>C (p.Ser797Pro) rs782418110 0.00001
NM_000489.6(ATRX):c.2409T>G (p.Ile803Met) rs782348869 0.00001
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572 0.00001
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg) rs587778085 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala) rs2071278709 0.00001
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe) rs587778088 0.00001
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) rs797044792 0.00001
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp) rs782283059 0.00001
NM_000489.6(ATRX):c.278A>T (p.Asp93Val) rs1064796774 0.00001
NM_000489.6(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839 0.00001
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val) rs1271635013 0.00001
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153 0.00001
NM_000489.6(ATRX):c.3287T>G (p.Leu1096Trp) rs1337990307 0.00001
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg) rs1569538747 0.00001
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr) rs2071226540 0.00001
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr) rs782073135 0.00001
NM_000489.6(ATRX):c.3455G>T (p.Gly1152Val) rs782023982 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn) rs782696086 0.00001
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr) rs374291079 0.00001
NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg) rs1057524797 0.00001
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe) rs782619383 0.00001
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly) rs987127830 0.00001
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys) rs1557125110 0.00001
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly) rs782438788 0.00001
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val) rs1557124086 0.00001
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala) rs781912326 0.00001
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu) rs147331649 0.00001
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp) rs1557119999 0.00001
NM_000489.6(ATRX):c.4956+3A>G rs1434725771 0.00001
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr) rs2068194249 0.00001
NM_000489.6(ATRX):c.5448+4C>T rs1557098428 0.00001
NM_000489.6(ATRX):c.5559C>T (p.His1853=) rs1557096973 0.00001
NM_000489.6(ATRX):c.5786+5A>G rs782475014 0.00001
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu) rs782773652 0.00001
NM_000489.6(ATRX):c.5965A>G (p.Thr1989Ala) rs1438449392 0.00001
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg) rs1440854109 0.00001
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val) rs1210447127 0.00001
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys) rs782241890 0.00001
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215 0.00001
NM_000489.6(ATRX):c.815C>G (p.Pro272Arg) rs782487127 0.00001
NM_000489.6(ATRX):c.847G>A (p.Val283Ile) rs1057522580 0.00001
NM_000489.6(ATRX):c.931C>T (p.His311Tyr) rs2071433222 0.00001
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val) rs760978695 0.00001
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala) rs762897039 0.00001
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) rs781986555 0.00001
NM_001032382.2(PQBP1):c.642-9C>A rs782015028 0.00001
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) rs782596874 0.00001
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln) rs750866615 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile) rs367660624 0.00001
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser) rs769718049 0.00001
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg) rs753209373 0.00001
NM_001110556.2(FLNA):c.1052C>T (p.Thr351Met) rs1287585684 0.00001
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670 0.00001
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266 0.00001
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn) rs781879374 0.00001
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1430-3C>T rs782813433 0.00001
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln) rs1315056698 0.00001
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932 0.00001
NM_001110556.2(FLNA):c.1692-3C>T rs781904011 0.00001
NM_001110556.2(FLNA):c.1742C>T (p.Ala581Val) rs2067744394 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.1829-8G>A rs782287295 0.00001
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524 0.00001
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00001
NM_001110556.2(FLNA):c.2281-6_2281-2dup rs782393225 0.00001
NM_001110556.2(FLNA):c.2281G>A (p.Val761Met) rs375898586 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly) rs1557178305 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2826+4G>A rs1037180469 0.00001
NM_001110556.2(FLNA):c.2894T>C (p.Val965Ala) rs2067712757 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser) rs782149159 0.00001
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg) rs782307520 0.00001
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met) rs781970327 0.00001
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00001
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg) rs782633080 0.00001
NM_001110556.2(FLNA):c.353G>A (p.Ser118Asn) rs1406549914 0.00001
NM_001110556.2(FLNA):c.3650A>G (p.His1217Arg) rs782148392 0.00001
NM_001110556.2(FLNA):c.374-3C>T rs781994403 0.00001
NM_001110556.2(FLNA):c.3815G>A (p.Arg1272His) rs2067691676 0.00001
NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His) rs863223623 0.00001
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile) rs782412141 0.00001
NM_001110556.2(FLNA):c.3979+4C>T rs782681322 0.00001
NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu) rs1557177547 0.00001
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp) rs373073505 0.00001
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu) rs2067686132 0.00001
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn) rs863223617 0.00001
NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys) rs1557177400 0.00001
NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg) rs2067683829 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001110556.2(FLNA):c.4755G>A (p.Thr1585=) rs371787377 0.00001
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met) rs782314291 0.00001
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His) rs1569551558 0.00001
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) rs1382817700 0.00001
NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly) rs1461148946 0.00001
NM_001110556.2(FLNA):c.5173C>T (p.Arg1725Cys) rs1195468267 0.00001
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro) rs1363194253 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu) rs781794030 0.00001
NM_001110556.2(FLNA):c.6067G>C (p.Val2023Leu) rs781998679 0.00001
NM_001110556.2(FLNA):c.6145C>T (p.Arg2049Cys) rs782740450 0.00001
NM_001110556.2(FLNA):c.6335G>A (p.Gly2112Asp) rs2067630528 0.00001
NM_001110556.2(FLNA):c.6385C>T (p.Pro2129Ser) rs1277448008 0.00001
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys) rs1405780478 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser) rs1276647740 0.00001
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu) rs782310851 0.00001
NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn) rs782754461 0.00001
NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp) rs368038166 0.00001
NM_001110556.2(FLNA):c.720+4C>T rs1557179583 0.00001
NM_001110556.2(FLNA):c.720+5A>T rs1569551860 0.00001
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) rs1460574102 0.00001
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser) rs782383611 0.00001
NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu) rs1377674951 0.00001
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg) rs1057520770 0.00001
NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr) rs377322094 0.00001
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly) rs929704371 0.00001
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly) rs1430045418 0.00001
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr) rs755904886 0.00001
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser) rs1318908420 0.00001
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe) rs763059359 0.00001
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser) rs1413596219 0.00001
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser) rs775774922 0.00001
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=) rs1602636492 0.00001
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr) rs778219829 0.00001
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe) rs751977016 0.00001
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met) rs773087045 0.00001
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp) rs767824461 0.00001
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys) rs763798306 0.00001
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala) rs1029866851 0.00001
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His) rs1361535008 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val) rs749714492 0.00001
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu) rs1382149285 0.00001
NM_001184880.2(PCDH19):c.2252A>G (p.Lys751Arg) rs1159118052 0.00001
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) rs376390125 0.00001
NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala) rs1226080727 0.00001
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu) rs1304917337 0.00001
NM_001184880.2(PCDH19):c.2401G>A (p.Val801Ile) rs973886559 0.00001
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser) rs111960928 0.00001
NM_001184880.2(PCDH19):c.2477G>A (p.Arg826His) rs1490663128 0.00001
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly) rs773732791 0.00001
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp) rs1284670769 0.00001
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu) rs199634316 0.00001
NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys) rs1928219474 0.00001
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg) rs1329841061 0.00001
NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser) rs1425103514 0.00001
NM_001184880.2(PCDH19):c.2599G>A (p.Gly867Ser) rs752424355 0.00001
NM_001184880.2(PCDH19):c.2616+3G>A rs1276499316 0.00001
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys) rs1285138683 0.00001
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met) rs746945279 0.00001
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln) rs757949591 0.00001
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val) rs778668005 0.00001
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg) rs1602600451 0.00001
NM_001184880.2(PCDH19):c.2676-10T>G rs1469998949 0.00001
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=) rs61742914 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile) rs370150093 0.00001
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile) rs772106217 0.00001
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu) rs371594080 0.00001
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser) rs983140182 0.00001
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln) rs372702479 0.00001
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe) rs796052838 0.00001
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro) rs1387075416 0.00001
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr) rs201509171 0.00001
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile) rs796052793 0.00001
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile) rs1452527533 0.00001
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu) rs1285095488 0.00001
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser) rs764781288 0.00001
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met) rs774791898 0.00001
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr) rs769890364 0.00001
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His) rs770137596 0.00001
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly) rs1057520343 0.00001
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser) rs1388666203 0.00001
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His) rs771849535 0.00001
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser) rs1413443418 0.00001
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg) rs777840773 0.00001
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) rs764980282 0.00001
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly) rs1339944196 0.00001
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile) rs587784298 0.00001
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln) rs796052808 0.00001
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr) rs1004810913 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NM_001289.6(CLIC2):c.392C>A (p.Ala131Glu) rs782547045 0.00001
NM_001330360.2(POLA1):c.463-9C>T rs778776585 0.00001
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His) rs1556347347 0.00001
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile) rs1556347281 0.00001
NM_001353921.2(ARHGEF9):c.1078-3T>C rs1409374479 0.00001
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln) rs1556335112 0.00001
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu) rs782206262 0.00001
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr) rs1556301016 0.00001
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu) rs1556402117 0.00001
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp) rs1556401755 0.00001
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) rs782001294 0.00001
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg) rs782145415 0.00001
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly) rs1394345886 0.00001
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys) rs781955551 0.00001
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile) rs1556415925 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) rs782139620 0.00001
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His) rs1556365349 0.00001
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn) rs782266558 0.00001
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr) rs1569491711 0.00001
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser) rs1431530716 0.00001
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln) rs782244025 0.00001
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile) rs2063927856 0.00001
NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val) rs1343137006 0.00001
NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser) rs1314814300 0.00001
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) rs1015209935 0.00001
NM_001830.4(CLCN4):c.1909G>C (p.Val637Leu) rs376523351 0.00001
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp) rs953773970 0.00001
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr) rs1924836688 0.00001
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) rs1246068842 0.00001
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr) rs770608210 0.00001
NM_002547.3(OPHN1):c.1201+3A>G rs1482683297 0.00001
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His) rs771624663 0.00001
NM_002547.3(OPHN1):c.148A>G (p.Met50Val) rs367993068 0.00001
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236 0.00001
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys) rs1360898468 0.00001
NM_004187.5(KDM5C):c.2517-7T>G rs1556838825 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_004586.3(RPS6KA3):c.1960-3C>T rs1207197365 0.00001
NM_004595.5(SMS):c.872C>A (p.Thr291Lys) rs755701744 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) rs748747814 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395 0.00001
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg) rs1170167377 0.00001
NM_005120.3(MED12):c.1746G>A (p.Thr582=) rs773240125 0.00001
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln) rs1275427306 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.2129T>C (p.Val710Ala) rs1187273369 0.00001
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser) rs772484830 0.00001
NM_005120.3(MED12):c.2305C>A (p.His769Asn) rs755014778 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.2341G>A (p.Val781Ile) rs2092300526 0.00001
NM_005120.3(MED12):c.2351G>A (p.Arg784His) rs777238737 0.00001
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn) rs1469572055 0.00001
NM_005120.3(MED12):c.3210-27C>T rs752463122 0.00001
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr) rs1317457286 0.00001
NM_005120.3(MED12):c.3658G>A (p.Val1220Met) rs1236099919 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp) rs1350628654 0.00001
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu) rs757845624 0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00001
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu) rs1458136598 0.00001
NM_005120.3(MED12):c.4617+3G>A rs748647968 0.00001
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu) rs151316557 0.00001
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu) rs1211195670 0.00001
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp) rs763233945 0.00001
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys) rs2092332758 0.00001
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser) rs1415832392 0.00001
NM_005120.3(MED12):c.5952T>C (p.Leu1984=) rs2092336597 0.00001
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys) rs1324299187 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 0.00001
NM_005120.3(MED12):c.6416G>A (p.Arg2139His) rs1262235402 0.00001
NM_005120.3(MED12):c.671A>G (p.His224Arg) rs1459490134 0.00001
NM_005120.3(MED12):c.707C>T (p.Thr236Ile) rs1278481602 0.00001
NM_005120.3(MED12):c.76C>G (p.Pro26Ala) rs776154055 0.00001
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252 0.00001
NM_005634.3(SOX3):c.337G>A (p.Ala113Thr) rs1927341730 0.00001
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser) rs202105468 0.00001
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu) rs767128351 0.00001
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile) rs966044221 0.00001
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys) rs745734335 0.00001
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys) rs760027081 0.00001
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser) rs377762605 0.00001
NM_005765.3(ATP6AP2):c.589-3A>G rs370220088 0.00001
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His) rs751433380 0.00001
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn) rs1242256343 0.00001
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys) rs1158279990 0.00001
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val) rs776952090 0.00001
NM_006013.5(RPL10):c.236G>C (p.Ser79Thr) rs782088842 0.00001
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr) rs373279555 0.00001
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys) rs765183335 0.00001
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val) rs185229386 0.00001
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn) rs772668988 0.00001
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu) rs895517774 0.00001
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr) rs1371497364 0.00001
NM_006950.3(SYN1):c.1519C>A (p.Arg507Ser) rs2057770942 0.00001
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro) rs1165799072 0.00001
NM_006950.3(SYN1):c.1713C>T (p.Gly571=) rs1243624256 0.00001
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val) rs1339706473 0.00001
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala) rs1294224206 0.00001
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val) rs796053397 0.00001
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu) rs1391622247 0.00001
NM_006950.3(SYN1):c.218G>C (p.Gly73Ala) rs1183767661 0.00001
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser) rs794726957 0.00001
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe) rs1488258803 0.00001
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) rs760804604 0.00001
NM_006950.3(SYN1):c.557G>A (p.Arg186His) rs1171134481 0.00001
NM_006950.3(SYN1):c.586G>A (p.Gly196Arg) rs1207640513 0.00001
NM_006950.3(SYN1):c.722C>T (p.Thr241Ile) rs796053399 0.00001
NM_006950.3(SYN1):c.883G>A (p.Val295Met) rs1085307749 0.00001
NM_006950.3(SYN1):c.959G>C (p.Gly320Ala) rs1356850744 0.00001
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys) rs775540855 0.00001
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val) rs764670975 0.00001
NM_007363.5(NONO):c.107C>T (p.Pro36Leu) rs750695677 0.00001
NM_014927.5(CNKSR2):c.176G>A (p.Arg59His) rs1397199866 0.00001
NM_014927.5(CNKSR2):c.2666C>A (p.Ala889Glu) rs893893504 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925 0.00001
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu) rs753807510 0.00001
NM_016032.4(ZDHHC9):c.1025G>A (p.Ser342Asn) rs1242322529 0.00001
NM_016032.4(ZDHHC9):c.1045C>T (p.Pro349Ser) rs755700206 0.00001
NM_016032.4(ZDHHC9):c.1054C>A (p.Pro352Thr) rs745341099 0.00001
NM_016032.4(ZDHHC9):c.20G>C (p.Arg7Thr) rs1488428088 0.00001
NM_016032.4(ZDHHC9):c.329-2dup rs763845850 0.00001
NM_016032.4(ZDHHC9):c.362G>A (p.Arg121Gln) rs1159950184 0.00001
NM_016032.4(ZDHHC9):c.778A>G (p.Ile260Val) rs1927640133 0.00001
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln) rs869312679 0.00001
NM_016032.4(ZDHHC9):c.989A>G (p.Glu330Gly) rs1370221742 0.00001
NM_016032.4(ZDHHC9):c.98G>A (p.Arg33Gln) rs767597857 0.00001
NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp) rs782753421 0.00001
NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu) rs121434620 0.00001
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) rs781832862 0.00001
NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys) rs370120927 0.00001
NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg) rs758854025 0.00001
NM_031206.7(LAS1L):c.948C>T (p.Cys316=) rs1410871672 0.00001
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln) rs375143574 0.00001
NM_031407.7(HUWE1):c.10988C>T (p.Pro3663Leu) rs1556921594 0.00001
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552 0.00001
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala) rs781821524 0.00001
NM_031407.7(HUWE1):c.3641C>T (p.Thr1214Met) rs782621365 0.00001
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405 0.00001
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln) rs782315292 0.00001
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser) rs1556970140 0.00001
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) rs782222601 0.00001
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109 0.00001
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr) rs2062442667 0.00001
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp) rs373845421 0.00001
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly) rs1402767794 0.00001
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu) rs898086981 0.00001
NM_080632.3(UPF3B):c.1302+6G>A rs752421745 0.00001
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro) rs748622995 0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) rs985384811 0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) rs376175156 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile) rs1557314226 0.00001
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
NC_000023.10:g.(?_118708675)_(119761021_?)dup
NC_000023.10:g.(?_118968821)_(118986911_?)dup
NC_000023.10:g.(?_128674397)_(128975941_?)dup
NC_000023.10:g.(?_152986307)_(153593345_?)dup
NC_000023.10:g.(?_153128118)_(153664237_?)dup
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_153585782)_(153775961_?)dup
NC_000023.10:g.(?_153586547)_(153609557_?)dup
NC_000023.10:g.(?_17393881)_(20284750_?)dup
NC_000023.10:g.(?_20173516)_(20195222_?)dup
NC_000023.10:g.(?_20173516)_(20252952_?)dup
NC_000023.10:g.(?_39911342)_(41782261_?)dup
NC_000023.10:g.(?_39911362)_(41782241_?)del
NC_000023.10:g.(?_40464793)_(40465007_?)dup
NC_000023.10:g.(?_46696536)_(47436910_?)dup
NC_000023.10:g.(?_47001716)_(50659607_?)dup
NC_000023.10:g.(?_47432243)_(47479147_?)dup
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NC_000023.10:g.(?_62857908)_(64196257_?)dup
NC_000023.10:g.(?_62893898)_(63005025_?)dup
NC_000023.10:g.(?_69748945)_(70644108_?)dup
NC_000023.10:g.(?_70338585)_(70362088_?)del
NC_000023.10:g.(?_70338585)_(70362088_?)dup
NC_000023.10:g.(?_70348944)_(70350084_?)dup
NC_000023.10:g.(?_70348958)_(70350070_?)dup
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.10:g.(?_76759357)_(77042755_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76763809)_(77041507_?)dup
NC_000023.10:g.(?_76763829)_(76972740_?)dup
NC_000023.10:g.(?_76829695)_(77041507_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_77041448)_(77041487_?)dup
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NC_000023.10:g.(?_99551255)_(99926004_?)dup
NC_000023.10:g.(?_99551275)_(101097764_?)dup
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_144988272)_(145271978_?)dup
NC_000023.11:g.(?_20155378)_(20176518_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NC_000023.11:g.154350197_154350208del
NC_000023.11:g.71124975GTT[1]
NC_000023.11:g.71141229GCA[3]
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3] rs773480549
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val) rs2071426013
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala) rs975407914
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val) rs2071424254
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val) rs2071423786
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val) rs2148629471
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr) rs2071417426
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro) rs367986587
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr) rs2148627971
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val) rs1557142145
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly) rs1057523785
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg) rs2148625660
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val) rs2071404188
NM_000489.6(ATRX):c.134A>T (p.Asp45Val) rs1557151500
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
NM_000489.6(ATRX):c.1466C>T (p.Thr489Ile)
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys) rs2071391273
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
NM_000489.6(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.6(ATRX):c.1509A>T (p.Gln503His) rs1039587651
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1522A>C (p.Asn508His) rs398123421
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
NM_000489.6(ATRX):c.1556C>G (p.Ser519Cys)
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr) rs2072320573
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
NM_000489.6(ATRX):c.1655C>G (p.Thr552Ser) rs2071378519
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
NM_000489.6(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser) rs1557140924
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
NM_000489.6(ATRX):c.1722T>G (p.Ile574Met) rs2071372568
NM_000489.6(ATRX):c.1744G>T (p.Val582Leu)
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.6(ATRX):c.182A>G (p.Lys61Arg)
NM_000489.6(ATRX):c.1842C>T (p.Gly614=) rs2071364653
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
NM_000489.6(ATRX):c.189+5G>A rs2072317981
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del) rs2071359110
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly) rs2071360128
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
NM_000489.6(ATRX):c.1955A>T (p.Asp652Val) rs2071357500
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
NM_000489.6(ATRX):c.1973G>A (p.Arg658His) rs2148610304
NM_000489.6(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile) rs2148610218
NM_000489.6(ATRX):c.1999C>T (p.Pro667Ser)
NM_000489.6(ATRX):c.1A>G (p.Met1Val) rs2076735328
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
NM_000489.6(ATRX):c.2011A>T (p.Asn671Tyr)
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
NM_000489.6(ATRX):c.2101C>T (p.Arg701Cys)
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp) rs1557140316
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
NM_000489.6(ATRX):c.2134A>G (p.Lys712Glu) rs2071344958
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn) rs2071344638
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu) rs2071341824
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro) rs2071340254
NM_000489.6(ATRX):c.2200A>G (p.Met734Val) rs2071339556
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln) rs782341193
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del) rs1297294136
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys) rs2148602163
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His) rs2071326352
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.6(ATRX):c.2320G>C (p.Asp774His) rs1557139871
NM_000489.6(ATRX):c.2323G>C (p.Asp775His) rs2071322741
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln) rs1603220762
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile) rs781957333
NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala)
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln) rs2071304603
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp) rs2148752831
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val) rs2148593605
NM_000489.6(ATRX):c.2592G>T (p.Gly864=) rs782526944
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe) rs781808505
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly) rs2071285505
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys) rs868926015
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly) rs2071282891
NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile) rs2148591370
NM_000489.6(ATRX):c.2686G>C (p.Asp896His) rs2071279824
NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys) rs782757975
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu) rs2071271385
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr) rs727503817
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr) rs2148588122
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val) rs2071267970
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del) rs1338172022
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg) rs2071266406
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del) rs782077612
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala) rs2148587031
NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro) rs2148586632
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro) rs2071260958
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg) rs2148585851
NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly) rs2071258052
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu) rs2071255335
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg) rs2071254827
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys) rs782574426
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu) rs2148584437
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln) rs2148583946
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met) rs2148582142
NM_000489.6(ATRX):c.3092G>A (p.Gly1031Asp) rs782088552
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly) rs1557138081
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met) rs2071238285
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu) rs2071236443
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
NM_000489.6(ATRX):c.3236A>T (p.Asp1079Val)
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
NM_000489.6(ATRX):c.3289C>T (p.Leu1097Phe)
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
NM_000489.6(ATRX):c.3318T>A (p.Asp1106Glu) rs2148576296
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=) rs2071225400
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly) rs2148574004
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn) rs782785569
NM_000489.6(ATRX):c.3433A>C (p.Asn1145His) rs2148573453
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln) rs2148573185
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg) rs2148573004
NM_000489.6(ATRX):c.3467C>T (p.Ser1156Phe)
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp) rs2071212651
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del) rs1557137281
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.6(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile) rs2148569833
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del) rs782162142
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser) rs144527582
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys) rs2148568110
NM_000489.6(ATRX):c.3649G>A (p.Gly1217Ser)
NM_000489.6(ATRX):c.3676del (p.Ile1226fs) rs2148567280
NM_000489.6(ATRX):c.370+5T>C rs1557149836
NM_000489.6(ATRX):c.371-4C>G rs1603240656
NM_000489.6(ATRX):c.3736+5G>A
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly) rs2148542963
NM_000489.6(ATRX):c.3813T>G (p.Ile1271Met) rs2070142302
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
NM_000489.6(ATRX):c.39A>G (p.Thr13=) rs1244422748
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe) rs2070041722
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val) rs2148487205
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=) rs782726352
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
NM_000489.6(ATRX):c.4121-3A>G
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
NM_000489.6(ATRX):c.4183G>A (p.Glu1395Lys)
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
NM_000489.6(ATRX):c.4199A>T (p.Gln1400Leu) rs2069567164
NM_000489.6(ATRX):c.4214+4T>G rs2148460567
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala) rs2148451827
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
NM_000489.6(ATRX):c.4228G>A (p.Ala1410Thr)
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.6(ATRX):c.4277G>A (p.Arg1426Gln) rs1557118717
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp) rs971839925
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del) rs1356648720
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del) rs782410402
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del) rs782794214
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup) rs2069287154
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup) rs398123423
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del) rs1312591978
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly) rs2072040574
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn) rs2148360161
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1]) rs797045406
NM_000489.6(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly) rs2068328911
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys) rs2148358518
NM_000489.6(ATRX):c.4699+3A>G
NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)
NM_000489.6(ATRX):c.479G>A (p.Arg160His) rs2072039122
NM_000489.6(ATRX):c.4838T>C (p.Leu1613Ser) rs2148343760
NM_000489.6(ATRX):c.485-7C>A rs1225852818
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
NM_000489.6(ATRX):c.489T>A (p.Asp163Glu)
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
NM_000489.6(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=) rs2148335082
NM_000489.6(ATRX):c.5134+6G>C
NM_000489.6(ATRX):c.5137C>T (p.Pro1713Ser) rs2148272498
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val) rs1057523890
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys) rs1448764008
NM_000489.6(ATRX):c.525A>G (p.Gly175=)
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr) rs2067530352
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys) rs2148258208
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val) rs2067467967
NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala) rs2148245541
NM_000489.6(ATRX):c.546A>T (p.Gln182His) rs375794120
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
NM_000489.6(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.6(ATRX):c.5565A>C (p.Thr1855=)
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.6(ATRX):c.5567G>A (p.Gly1856Asp)
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.6(ATRX):c.5579A>C (p.Asn1860Thr)
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly) rs2066634036
NM_000489.6(ATRX):c.5683A>G (p.Ser1895Gly) rs2066633572
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly) rs2066607432
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val) rs2066607060
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp) rs2066606140
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
NM_000489.6(ATRX):c.5786+3_5786+4insT
NM_000489.6(ATRX):c.5803A>G (p.Lys1935Glu) rs2148145177
NM_000489.6(ATRX):c.5825G>A (p.Ser1942Asn) rs2148144524
NM_000489.6(ATRX):c.5888G>A (p.Arg1963Gln)
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
NM_000489.6(ATRX):c.5923A>G (p.Asn1975Asp)
NM_000489.6(ATRX):c.5942T>C (p.Leu1981Ser)
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly) rs2148140220
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn) rs2066370578
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6003G>C (p.Trp2001Cys)
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val) rs2148115836
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
NM_000489.6(ATRX):c.6157T>G (p.Phe2053Val) rs2066171841
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
NM_000489.6(ATRX):c.6217+12A>G rs2148088080
NM_000489.6(ATRX):c.6227A>C (p.Lys2076Thr)
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
NM_000489.6(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
NM_000489.6(ATRX):c.6458G>A (p.Arg2153His)
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg) rs2147947274
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn) rs2071472042
NM_000489.6(ATRX):c.6504+3A>G
NM_000489.6(ATRX):c.6504+5_6504+14del rs2064891953
NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala)
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu) rs2147941386
NM_000489.6(ATRX):c.6653C>T (p.Pro2218Leu) rs2147941337
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg) rs2064848419
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.6(ATRX):c.6849+5T>C
NM_000489.6(ATRX):c.6850-19A>G rs2063260471
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr) rs2063256154
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn) rs2147748165
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp) rs2147748088
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
NM_000489.6(ATRX):c.6975+6T>C
NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr) rs1339589345
NM_000489.6(ATRX):c.70C>T (p.His24Tyr) rs1191670776
NM_000489.6(ATRX):c.7117G>T (p.Ala2373Ser)
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
NM_000489.6(ATRX):c.715T>C (p.Phe239Leu) rs2071445748
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
NM_000489.6(ATRX):c.7200+10C>G rs781824017
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del) rs2147651554
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile) rs2062761742
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr) rs2147648215
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer) rs2147645829
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
NM_000489.6(ATRX):c.796T>C (p.Tyr266His) rs2071441898
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
NM_000489.6(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro) rs2071431525
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser) rs2148633005
NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)
NM_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile) rs745417882
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys) rs966045847
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
NM_001008537.3(NEXMIF):c.1769A>T (p.Lys590Met)
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.1993C>T (p.His665Tyr)
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) rs2080097689
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) rs2080097127
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser) rs747231678
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) rs2080115822
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)
NM_001015877.2(PHF6):c.-47+5G>A rs2077265772
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
NM_001015877.2(PHF6):c.310C>G (p.His104Asp) rs2077363957
NM_001015877.2(PHF6):c.369T>G (p.Ile123Met)
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr)
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile) rs2077459540
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys)
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) rs1602716458
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala) rs2077475371
NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala) rs2077284343
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
NM_001015877.2(PHF6):c.969-6T>G rs2077504087
NM_001032382.2(PQBP1):c.180-306G>A rs2063414930
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) rs1222724041
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) rs200715521
NM_001032382.2(PQBP1):c.530G>A (p.Arg177His) rs1047322213
NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg) rs2147479387
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) rs1569510706
NM_001039591.3(USP9X):c.1081G>A (p.Val361Met)
NM_001039591.3(USP9X):c.1315-284G>T
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=) rs2062543205
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)
NM_001039591.3(USP9X):c.3027+5G>T rs2147124048
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001039591.3(USP9X):c.3386T>C (p.Met1129Thr) rs2147158621
NM_001039591.3(USP9X):c.4796T>C (p.Met1599Thr) rs2147202009
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) rs2063039248
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
NM_001039591.3(USP9X):c.6310C>A (p.Leu2104Ile)
NM_001039591.3(USP9X):c.771-2A>G
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg) rs1556213268
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser) rs1300720472
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn) rs2147329944
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu) rs1923920343
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys) rs1923919394
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys) rs2147350219
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr) rs2147328768
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His) rs1923849803
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro) rs2147328180
NM_001079872.2(CUL4B):c.1852+3A>G
NM_001079872.2(CUL4B):c.1853-13A>G
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)
NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr) rs2147325555
NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn) rs1556181426
NM_001079872.2(CUL4B):c.2592+3A>T
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn) rs1922994124
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu) rs768424127
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs) rs2147314730
NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)
NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del) rs754330779
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup) rs746690704
NM_001079872.2(CUL4B):c.43G>A (p.Ala15Thr) rs1925231122
NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)
NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg) rs1199433297
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile) rs866840262
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
NM_001079872.2(CUL4B):c.920+9G>A
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del) rs1556214312
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr) rs1924204795
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.195G>C (p.Gln65His) rs2050956716
NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly) rs2047664414
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His) rs1326074013
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) rs1603242504
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) rs1603242447
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
NM_001081550.2(THOC2):c.4519+3A>G rs2046785257
NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del
NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser)
NM_001110556.2(FLNA):c.1022C>T (p.Thr341Ile)
NM_001110556.2(FLNA):c.1088A>G (p.Gln363Arg) rs1557179289
NM_001110556.2(FLNA):c.108GGA[1] (p.Glu37del) rs2067803106
NM_001110556.2(FLNA):c.1091A>G (p.His364Arg)
NM_001110556.2(FLNA):c.1105C>G (p.Pro369Ala) rs1029103588
NM_001110556.2(FLNA):c.1111G>C (p.Glu371Gln) rs1557179279
NM_001110556.2(FLNA):c.1125T>G (p.Asp375Glu)
NM_001110556.2(FLNA):c.1133A>G (p.Gln378Arg)
NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr) rs781984427
NM_001110556.2(FLNA):c.1154C>T (p.Thr385Ile) rs2148118000
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser) rs2067803076
NM_001110556.2(FLNA):c.1169G>T (p.Gly390Val)
NM_001110556.2(FLNA):c.1201A>G (p.Thr401Ala)
NM_001110556.2(FLNA):c.1202C>T (p.Thr401Ile) rs782816272
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1208A>C (p.Tyr403Ser)
NM_001110556.2(FLNA):c.1229G>A (p.Gly410Glu)
NM_001110556.2(FLNA):c.1232C>T (p.Ala411Val) rs2148117837
NM_001110556.2(FLNA):c.1252G>T (p.Val418Phe)
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser) rs863223643
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn) rs1569551929
NM_001110556.2(FLNA):c.1317C>G (p.Asp439Glu)
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1322C>T (p.Thr441Ile)
NM_001110556.2(FLNA):c.1330T>C (p.Cys444Arg) rs1557179178
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr) rs2067757344
NM_001110556.2(FLNA):c.1348A>T (p.Met450Leu) rs2148117655
NM_001110556.2(FLNA):c.1351G>A (p.Glu451Lys)
NM_001110556.2(FLNA):c.1354G>A (p.Gly452Ser)
NM_001110556.2(FLNA):c.1355G>A (p.Gly452Asp) rs2067757148
NM_001110556.2(FLNA):c.1357G>A (p.Val453Ile)
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1371C>G (p.His457Gln) rs202112979
NM_001110556.2(FLNA):c.1375A>G (p.Thr459Ala) rs1244330871
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys) rs375463904
NM_001110556.2(FLNA):c.1387G>T (p.Val463Leu)
NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser)
NM_001110556.2(FLNA):c.1406C>G (p.Pro469Arg)
NM_001110556.2(FLNA):c.1429G>A (p.Ala477Thr) rs2148117564
NM_001110556.2(FLNA):c.1429G>C (p.Ala477Pro)
NM_001110556.2(FLNA):c.142A>C (p.Thr48Pro)
NM_001110556.2(FLNA):c.1430C>T (p.Ala477Val)
NM_001110556.2(FLNA):c.1433G>A (p.Cys478Tyr)
NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr)
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
NM_001110556.2(FLNA):c.1439C>A (p.Pro480Gln)
NM_001110556.2(FLNA):c.1457T>C (p.Val486Ala)
NM_001110556.2(FLNA):c.1459G>A (p.Gly487Ser)
NM_001110556.2(FLNA):c.1466G>T (p.Gly489Val)
NM_001110556.2(FLNA):c.1472A>T (p.Gln491Leu)
NM_001110556.2(FLNA):c.1478A>G (p.Lys493Arg)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) rs868994092
NM_001110556.2(FLNA):c.1552A>G (p.Thr518Ala)
NM_001110556.2(FLNA):c.1565C>T (p.Pro522Leu)
NM_001110556.2(FLNA):c.1568-3C>T
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1601_1603dup (p.Gly534_Asp535insGly)
NM_001110556.2(FLNA):c.1607G>A (p.Gly536Asp)
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu) rs782067087
NM_001110556.2(FLNA):c.1610T>C (p.Val537Ala)
NM_001110556.2(FLNA):c.1616G>C (p.Gly539Ala) rs863223618
NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln) rs743546
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys) rs41304984
NM_001110556.2(FLNA):c.1635G>A (p.Met545Ile)
NM_001110556.2(FLNA):c.1643G>A (p.Gly548Glu)
NM_001110556.2(FLNA):c.1657A>G (p.Thr553Ala)
NM_001110556.2(FLNA):c.1673G>T (p.Gly558Val)
NM_001110556.2(FLNA):c.167A>G (p.His56Arg) rs2148121997
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1692-16G>T
NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala)
NM_001110556.2(FLNA):c.1712G>A (p.Gly571Asp)
NM_001110556.2(FLNA):c.1739G>A (p.Arg580Gln)
NM_001110556.2(FLNA):c.1769T>A (p.Val590Asp)
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) rs1603362451
NM_001110556.2(FLNA):c.1804A>G (p.Ile602Val) rs1057522788
NM_001110556.2(FLNA):c.1816G>A (p.Val606Met) rs2067743164
NM_001110556.2(FLNA):c.1828+6T>C
NM_001110556.2(FLNA):c.1829-3C>T rs2148116361
NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn) rs1557180197
NM_001110556.2(FLNA):c.1844G>A (p.Gly615Glu) rs2148116352
NM_001110556.2(FLNA):c.1855G>C (p.Ala619Pro) rs2148116341
NM_001110556.2(FLNA):c.185A>G (p.Lys62Arg) rs2148121972
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys) rs1131691935
NM_001110556.2(FLNA):c.1867T>C (p.Cys623Arg)
NM_001110556.2(FLNA):c.186G>T (p.Lys62Asn) rs2148121969
NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr)
NM_001110556.2(FLNA):c.1915G>A (p.Glu639Lys)
NM_001110556.2(FLNA):c.1922G>T (p.Gly641Val) rs2148116278
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.1927T>G (p.Tyr643Asp)
NM_001110556.2(FLNA):c.1931C>T (p.Ala644Val)
NM_001110556.2(FLNA):c.1936C>A (p.His646Asn)
NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly)
NM_001110556.2(FLNA):c.1946G>A (p.Cys649Tyr)
NM_001110556.2(FLNA):c.194C>T (p.Ala65Val)
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1961T>C (p.Ile654Thr)
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1981G>A (p.Ala661Thr)
NM_001110556.2(FLNA):c.1991G>T (p.Arg664Leu) rs1271495778
NM_001110556.2(FLNA):c.2003A>C (p.Gln668Pro)
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg) rs1603362336
NM_001110556.2(FLNA):c.2007C>G (p.Asp669Glu)
NM_001110556.2(FLNA):c.2019C>A (p.Asp673Glu)
NM_001110556.2(FLNA):c.2020A>G (p.Arg674Gly) rs2067740244
NM_001110556.2(FLNA):c.2022+6G>A
NM_001110556.2(FLNA):c.2038C>T (p.Pro680Ser)
NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln) rs2067738505
NM_001110556.2(FLNA):c.2094T>G (p.Asp698Glu) rs2148115999
NM_001110556.2(FLNA):c.2113G>A (p.Ala705Thr) rs2148115967
NM_001110556.2(FLNA):c.2137-3C>G rs1315164840
NM_001110556.2(FLNA):c.2167G>A (p.Val723Ile) rs2148115805
NM_001110556.2(FLNA):c.2167G>C (p.Val723Leu) rs2148115805
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu) rs2067736374
NM_001110556.2(FLNA):c.2189C>G (p.Thr730Ser) rs2067736058
NM_001110556.2(FLNA):c.2189C>T (p.Thr730Ile)
NM_001110556.2(FLNA):c.2203T>C (p.Tyr735His)
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys) rs1603362223
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser) rs1336740117
NM_001110556.2(FLNA):c.2247G>C (p.Trp749Cys) rs2148115714
NM_001110556.2(FLNA):c.2254G>C (p.Val752Leu)
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal) rs863223631
NM_001110556.2(FLNA):c.2267A>G (p.Asn756Ser) rs781874902
NM_001110556.2(FLNA):c.2272C>T (p.Pro758Ser)
NM_001110556.2(FLNA):c.2281-3C>A rs1603361933
NM_001110556.2(FLNA):c.2317A>G (p.Lys773Glu)
NM_001110556.2(FLNA):c.2319A>C (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn) rs1060500719
NM_001110556.2(FLNA):c.2332G>A (p.Gly778Arg) rs2148114671
NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly) rs2067722548
NM_001110556.2(FLNA):c.2366C>T (p.Pro789Leu)
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser) rs201073998
NM_001110556.2(FLNA):c.2395G>A (p.Ala799Thr)
NM_001110556.2(FLNA):c.23C>T (p.Ala8Val)
NM_001110556.2(FLNA):c.2405-17_2405-3del rs2067721254
NM_001110556.2(FLNA):c.2405-3C>A
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2488G>T (p.Asp830Tyr) rs782470966
NM_001110556.2(FLNA):c.24G>A (p.Ala8=)
NM_001110556.2(FLNA):c.2519C>T (p.Pro840Leu)
NM_001110556.2(FLNA):c.2524G>A (p.Gly842Arg) rs1557178241
NM_001110556.2(FLNA):c.2527G>T (p.Ala843Ser)
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr) rs2067719388
NM_001110556.2(FLNA):c.2545A>G (p.Met849Val) rs2148114357
NM_001110556.2(FLNA):c.2565+6del rs2148114334
NM_001110556.2(FLNA):c.2565G>A (p.Gln855=)
NM_001110556.2(FLNA):c.2566-6C>A rs2067718449
NM_001110556.2(FLNA):c.2573C>T (p.Pro858Leu)
NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln)
NM_001110556.2(FLNA):c.2601G>T (p.Glu867Asp)
NM_001110556.2(FLNA):c.2603C>T (p.Pro868Leu)
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg) rs2067717840
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro) rs377046577
NM_001110556.2(FLNA):c.2632G>A (p.Glu878Lys) rs1569551740
NM_001110556.2(FLNA):c.2633A>G (p.Glu878Gly)
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile) rs1156296397
NM_001110556.2(FLNA):c.2672A>T (p.Lys891Met) rs2148114112
NM_001110556.2(FLNA):c.2680C>A (p.His894Asn)
NM_001110556.2(FLNA):c.2687C>T (p.Thr896Ile) rs1321859695
NM_001110556.2(FLNA):c.268C>T (p.His90Tyr) rs2148121905
NM_001110556.2(FLNA):c.2690T>G (p.Val897Gly)
NM_001110556.2(FLNA):c.2695G>A (p.Ala899Thr) rs2148114096
NM_001110556.2(FLNA):c.2713G>A (p.Gly905Ser)
NM_001110556.2(FLNA):c.271C>T (p.Arg91Cys)
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
NM_001110556.2(FLNA):c.2767G>A (p.Val923Met)
NM_001110556.2(FLNA):c.2786A>G (p.His929Arg)
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
NM_001110556.2(FLNA):c.2789ACA[1] (p.Asn931del)
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu) rs2067715037
NM_001110556.2(FLNA):c.2826+3A>G
NM_001110556.2(FLNA):c.2842A>G (p.Asn948Asp)
NM_001110556.2(FLNA):c.2848A>G (p.Thr950Ala)
NM_001110556.2(FLNA):c.2873A>G (p.Lys958Arg)
NM_001110556.2(FLNA):c.2875A>G (p.Ser959Gly)
NM_001110556.2(FLNA):c.2879C>G (p.Pro960Arg)
NM_001110556.2(FLNA):c.2930C>A (p.Ser977Tyr)
NM_001110556.2(FLNA):c.2933G>A (p.Gly978Asp)
NM_001110556.2(FLNA):c.2935C>G (p.Leu979Val)
NM_001110556.2(FLNA):c.2943G>A (p.Glu981=)
NM_001110556.2(FLNA):c.2949G>A (p.Val983=)
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys) rs1557178045
NM_001110556.2(FLNA):c.2971T>C (p.Phe991Leu) rs2067711510
NM_001110556.2(FLNA):c.3021G>C (p.Lys1007Asn)
NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg) rs2067801711
NM_001110556.2(FLNA):c.3032C>G (p.Pro1011Arg)
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala) rs1364359427
NM_001110556.2(FLNA):c.305T>G (p.Met102Arg) rs2067801675
NM_001110556.2(FLNA):c.3060G>A (p.Val1020=)
NM_001110556.2(FLNA):c.3070C>G (p.Leu1024Val)
NM_001110556.2(FLNA):c.3071T>G (p.Leu1024Arg)
NM_001110556.2(FLNA):c.3074G>A (p.Gly1025Glu) rs2148113514
NM_001110556.2(FLNA):c.3083A>G (p.Asn1028Ser)
NM_001110556.2(FLNA):c.3086G>A (p.Ser1029Asn)
NM_001110556.2(FLNA):c.3124G>A (p.Glu1042Lys)
NM_001110556.2(FLNA):c.3125A>G (p.Glu1042Gly)
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu) rs1475916528
NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His) rs2067710102
NM_001110556.2(FLNA):c.3158C>G (p.Pro1053Arg)
NM_001110556.2(FLNA):c.3167C>T (p.Pro1056Leu)
NM_001110556.2(FLNA):c.3203G>C (p.Ser1068Thr)
NM_001110556.2(FLNA):c.3207+5T>C rs782555499
NM_001110556.2(FLNA):c.3207+6T>A
NM_001110556.2(FLNA):c.3207+6del
NM_001110556.2(FLNA):c.3215C>T (p.Ala1072Val)
NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser) rs1336237133
NM_001110556.2(FLNA):c.323C>T (p.Ser108Leu)
NM_001110556.2(FLNA):c.3248G>A (p.Gly1083Asp) rs2148112438
NM_001110556.2(FLNA):c.3251C>G (p.Ser1084Cys)
NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr) rs782632029
NM_001110556.2(FLNA):c.3259C>G (p.Arg1087Gly)
NM_001110556.2(FLNA):c.3270_3271delinsTA (p.Asp1091Asn)
NM_001110556.2(FLNA):c.3275C>G (p.Thr1092Ser)
NM_001110556.2(FLNA):c.3280G>T (p.Gly1094Cys) rs2067697829
NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys)
NM_001110556.2(FLNA):c.3310G>A (p.Val1104Met) rs2148112364
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys) rs1222602089
NM_001110556.2(FLNA):c.3342C>G (p.Cys1114Trp)
NM_001110556.2(FLNA):c.3352G>A (p.Gly1118Arg)
NM_001110556.2(FLNA):c.3362C>T (p.Thr1121Ile) rs2067696805
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser) rs1557180178
NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val) rs782395522
NM_001110556.2(FLNA):c.3422C>G (p.Ala1141Gly)
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu) rs2067695794
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val) rs1557177751
NM_001110556.2(FLNA):c.3467C>G (p.Pro1156Arg)
NM_001110556.2(FLNA):c.3478G>A (p.Ala1160Thr) rs2148112194
NM_001110556.2(FLNA):c.347G>T (p.Arg116Leu)
NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu) rs2148112185
NM_001110556.2(FLNA):c.3489C>T (p.Val1163=)
NM_001110556.2(FLNA):c.3490A>G (p.Lys1164Glu)
NM_001110556.2(FLNA):c.3497C>T (p.Ser1166Leu) rs2148112179
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser) rs868975259
NM_001110556.2(FLNA):c.3502C>T (p.Pro1168Ser) rs2067695264
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly) rs1557177743
NM_001110556.2(FLNA):c.3529G>A (p.Glu1177Lys) rs1557177738
NM_001110556.2(FLNA):c.3561C>G (p.Ser1187Arg)
NM_001110556.2(FLNA):c.3574G>A (p.Glu1192Lys)
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp) rs2067694581
NM_001110556.2(FLNA):c.35C>A (p.Ala12Glu)
NM_001110556.2(FLNA):c.3617A>G (p.Glu1206Gly) rs863223622
NM_001110556.2(FLNA):c.3619G>T (p.Val1207Leu)
NM_001110556.2(FLNA):c.3634C>T (p.His1212Tyr) rs782721742
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser) rs2067693792
NM_001110556.2(FLNA):c.3664A>G (p.Ile1222Val)
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.3671T>G (p.Leu1224Arg) rs2148112042
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu) rs2067693582
NM_001110556.2(FLNA):c.3686A>G (p.Tyr1229Cys)
NM_001110556.2(FLNA):c.3707G>C (p.Gly1236Ala)
NM_001110556.2(FLNA):c.3737A>C (p.Lys1246Thr)
NM_001110556.2(FLNA):c.374-10C>A rs782709382
NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg) rs2067693046
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala) rs2067692917
NM_001110556.2(FLNA):c.3766T>C (p.Ser1256Pro) rs2148111936
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr) rs1557177666
NM_001110556.2(FLNA):c.3776A>G (p.Gln1259Arg) rs2148111919
NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp)
NM_001110556.2(FLNA):c.3815G>T (p.Arg1272Leu)
NM_001110556.2(FLNA):c.3827C>T (p.Thr1276Ile)
NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr) rs782466840
NM_001110556.2(FLNA):c.3848G>A (p.Arg1283Gln)
NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser) rs2067691272
NM_001110556.2(FLNA):c.3857C>T (p.Thr1286Ile)
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His) rs1557177627
NM_001110556.2(FLNA):c.3863C>G (p.Thr1288Ser) rs2148111768
NM_001110556.2(FLNA):c.387C>G (p.Ile129Met)
NM_001110556.2(FLNA):c.388G>A (p.Val130Met)
NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val) rs2067690791
NM_001110556.2(FLNA):c.3923A>C (p.Tyr1308Ser)
NM_001110556.2(FLNA):c.3928C>G (p.Gln1310Glu)
NM_001110556.2(FLNA):c.3937G>T (p.Gly1313Cys)
NM_001110556.2(FLNA):c.3941A>G (p.Asp1314Gly)
NM_001110556.2(FLNA):c.3946A>G (p.Met1316Val) rs2148111681
NM_001110556.2(FLNA):c.3979+5G>A rs1569551642
NM_001110556.2(FLNA):c.3979+6T>C rs2148111652
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met) rs1569551635
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met) rs782342052
NM_001110556.2(FLNA):c.4024A>G (p.Ser1342Gly)
NM_001110556.2(FLNA):c.4026C>A (p.Ser1342Arg)
NM_001110556.2(FLNA):c.4033T>G (p.Phe1345Val) rs2148111513
NM_001110556.2(FLNA):c.4064C>T (p.Pro1355Leu)
NM_001110556.2(FLNA):c.4084G>A (p.Gly1362Arg) rs2148111460
NM_001110556.2(FLNA):c.4093A>G (p.Ile1365Val) rs782815741
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn) rs1569551877
NM_001110556.2(FLNA):c.4117_4125del (p.Pro1373_Lys1375del)
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser) rs2067687994
NM_001110556.2(FLNA):c.4124A>G (p.Lys1375Arg)
NM_001110556.2(FLNA):c.4143G>C (p.Arg1381Ser)
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp) rs2067686967
NM_001110556.2(FLNA):c.4165G>T (p.Gly1389Cys)
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile) rs1603360869
NM_001110556.2(FLNA):c.4192G>C (p.Ala1398Pro)
NM_001110556.2(FLNA):c.4209G>C (p.Met1403Ile)
NM_001110556.2(FLNA):c.4234G>A (p.Val1412Ile) rs2067686225
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val) rs2067686132
NM_001110556.2(FLNA):c.4255G>A (p.Ala1419Thr)
NM_001110556.2(FLNA):c.4283A>G (p.Tyr1428Cys)
NM_001110556.2(FLNA):c.4303+6G>T
NM_001110556.2(FLNA):c.4304-8A>G rs2148111094
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4327C>G (p.His1443Asp)
NM_001110556.2(FLNA):c.4333G>A (p.Val1445Met)
NM_001110556.2(FLNA):c.4334T>G (p.Val1445Gly)
NM_001110556.2(FLNA):c.4338A>G (p.Thr1446=)
NM_001110556.2(FLNA):c.4343C>G (p.Ala1448Gly) rs201886752
NM_001110556.2(FLNA):c.4354A>G (p.Lys1452Glu)
NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser) rs374447840
NM_001110556.2(FLNA):c.4372C>G (p.Leu1458Val)
NM_001110556.2(FLNA):c.4375A>G (p.Ser1459Gly)
NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala) rs2067684009
NM_001110556.2(FLNA):c.43G>T (p.Ala15Ser)
NM_001110556.2(FLNA):c.4438G>A (p.Val1480Met)
NM_001110556.2(FLNA):c.4449G>T (p.Leu1483Phe)
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His) rs1569551606
NM_001110556.2(FLNA):c.4453G>A (p.Val1485Ile)
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg) rs782276039
NM_001110556.2(FLNA):c.4468C>T (p.Pro1490Ser)
NM_001110556.2(FLNA):c.4474+8_4474+9delinsAG
NM_001110556.2(FLNA):c.4475G>A (p.Gly1492Asp)
NM_001110556.2(FLNA):c.44C>A (p.Ala15Glu)
NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys) rs200857989
NM_001110556.2(FLNA):c.4520A>G (p.Gln1507Arg)
NM_001110556.2(FLNA):c.4523C>T (p.Thr1508Ile)
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile) rs782018054
NM_001110556.2(FLNA):c.4528A>T (p.Asn1510Tyr)
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln) rs782597696
NM_001110556.2(FLNA):c.4546G>A (p.Glu1516Lys)
NM_001110556.2(FLNA):c.4561A>G (p.Ile1521Val) rs2148110566
NM_001110556.2(FLNA):c.4567G>A (p.Val1523Ile)
NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile) rs2067679230
NM_001110556.2(FLNA):c.4589T>C (p.Val1530Ala) rs1603360612
NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly) rs1603360612
NM_001110556.2(FLNA):c.461T>G (p.Met154Arg)
NM_001110556.2(FLNA):c.463T>G (p.Trp155Gly) rs2148119440
NM_001110556.2(FLNA):c.4646A>G (p.Lys1549Arg) rs2148110417
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser) rs1557179668
NM_001110556.2(FLNA):c.4651A>C (p.Ser1551Arg) rs1557177249
NM_001110556.2(FLNA):c.4661G>A (p.Gly1554Glu)
NM_001110556.2(FLNA):c.4691T>G (p.Leu1564Arg)
NM_001110556.2(FLNA):c.4706C>A (p.Thr1569Asn)
NM_001110556.2(FLNA):c.4715C>G (p.Ala1572Gly)
NM_001110556.2(FLNA):c.471GGA[2] (p.Glu159del) rs2067775754
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del) rs1557177229
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.473A>G (p.Glu158Gly) rs2148119426
NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met) rs2067677205
NM_001110556.2(FLNA):c.4755+3G>C
NM_001110556.2(FLNA):c.4762G>A (p.Glu1588Lys)
NM_001110556.2(FLNA):c.4770G>C (p.Lys1590Asn)
NM_001110556.2(FLNA):c.4772C>G (p.Pro1591Arg)
NM_001110556.2(FLNA):c.4774A>G (p.Lys1592Glu) rs1311666006
NM_001110556.2(FLNA):c.4778A>C (p.Lys1593Thr)
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp) rs2067775793
NM_001110556.2(FLNA):c.47C>T (p.Ala16Val)
NM_001110556.2(FLNA):c.4814C>A (p.Thr1605Lys) rs2148109766
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu) rs782082407
NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu)
NM_001110556.2(FLNA):c.484G>A (p.Glu162Lys)
NM_001110556.2(FLNA):c.4852A>G (p.Ile1618Val)
NM_001110556.2(FLNA):c.4855C>T (p.Leu1619Phe) rs2148109695
NM_001110556.2(FLNA):c.4867G>A (p.Gly1623Ser)
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr) rs1569551875
NM_001110556.2(FLNA):c.4900G>A (p.Val1634Met)
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile) rs2067671701
NM_001110556.2(FLNA):c.4936A>G (p.Thr1646Ala)
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.49C>T (p.Pro17Ser)
NM_001110556.2(FLNA):c.5011G>A (p.Val1671Met)
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg) rs781783107
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup) rs781960834
NM_001110556.2(FLNA):c.5104G>A (p.Glu1702Lys) rs1468053311
NM_001110556.2(FLNA):c.510G>C (p.Gln170His)
NM_001110556.2(FLNA):c.5112_5114del (p.Glu1704del) rs2148107489
NM_001110556.2(FLNA):c.5125G>T (p.Asp1709Tyr) rs782286237
NM_001110556.2(FLNA):c.5128A>G (p.Ile1710Val)
NM_001110556.2(FLNA):c.5131T>A (p.Phe1711Ile)
NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His) rs782311904
NM_001110556.2(FLNA):c.5157A>G (p.Lys1719=) rs2148107420
NM_001110556.2(FLNA):c.5170G>A (p.Val1724Met)
NM_001110556.2(FLNA):c.5216C>T (p.Thr1739Met)
NM_001110556.2(FLNA):c.5239_5250del (p.Ser1747_Pro1750del) rs1374504437
NM_001110556.2(FLNA):c.5242G>A (p.Val1748Met) rs1020587429
NM_001110556.2(FLNA):c.5258G>C (p.Arg1753Pro)
NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe) rs1557176515
NM_001110556.2(FLNA):c.5281T>A (p.Tyr1761Asn) rs1293701269
NM_001110556.2(FLNA):c.5314-3C>T
NM_001110556.2(FLNA):c.5333T>A (p.Val1778Glu) rs2148106810
NM_001110556.2(FLNA):c.5350G>C (p.Asp1784His)
NM_001110556.2(FLNA):c.5353G>A (p.Val1785Met) rs2148106780
NM_001110556.2(FLNA):c.5360G>A (p.Ser1787Asn)
NM_001110556.2(FLNA):c.5360G>C (p.Ser1787Thr) rs1557176461
NM_001110556.2(FLNA):c.5366G>A (p.Arg1789Lys)
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn) rs1557179655
NM_001110556.2(FLNA):c.5393_5395del (p.Thr1798del) rs2148106743
NM_001110556.2(FLNA):c.5395A>G (p.Ile1799Val)
NM_001110556.2(FLNA):c.53G>A (p.Gly18Asp)
NM_001110556.2(FLNA):c.53GCG[4] (p.Gly20_Val21insGly)
NM_001110556.2(FLNA):c.5400G>T (p.Lys1800Asn) rs2067646548
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
NM_001110556.2(FLNA):c.5416+4A>G
NM_001110556.2(FLNA):c.5416+5G>A rs2067646346
NM_001110556.2(FLNA):c.5416+6T>G rs2067646326
NM_001110556.2(FLNA):c.5417-18A>C
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val) rs2067645436
NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg)
NM_001110556.2(FLNA):c.545A>G (p.Gln182Arg)
NM_001110556.2(FLNA):c.5468A>G (p.Asn1823Ser)
NM_001110556.2(FLNA):c.5477G>A (p.Gly1826Asp)
NM_001110556.2(FLNA):c.5498C>T (p.Ala1833Val)
NM_001110556.2(FLNA):c.5506G>A (p.Glu1836Lys) rs1557176399
NM_001110556.2(FLNA):c.5506G>C (p.Glu1836Gln) rs1557176399
NM_001110556.2(FLNA):c.5510C>T (p.Ala1837Val) rs2148106499
NM_001110556.2(FLNA):c.5534_5554del (p.Arg1845_Ile1851del) rs2148106442
NM_001110556.2(FLNA):c.5545A>G (p.Met1849Val) rs2148106450
NM_001110556.2(FLNA):c.5547G>A (p.Met1849Ile)
NM_001110556.2(FLNA):c.5550C>G (p.His1850Gln)
NM_001110556.2(FLNA):c.5557+6C>T
NM_001110556.2(FLNA):c.5558-12T>C
NM_001110556.2(FLNA):c.5558-20G>A rs2148106327
NM_001110556.2(FLNA):c.5558-3C>T
NM_001110556.2(FLNA):c.5566T>G (p.Leu1856Val) rs2148106298
NM_001110556.2(FLNA):c.5591A>C (p.Asn1864Thr) rs782095418
NM_001110556.2(FLNA):c.5599C>T (p.His1867Tyr) rs2067643018
NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala)
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala) rs886039107
NM_001110556.2(FLNA):c.5660C>A (p.Thr1887Asn)
NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile) rs782669152
NM_001110556.2(FLNA):c.5686+6C>T rs2148106131
NM_001110556.2(FLNA):c.5698C>G (p.Leu1900Val)
NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser) rs2067640521
NM_001110556.2(FLNA):c.5734T>G (p.Cys1912Gly)
NM_001110556.2(FLNA):c.5745C>G (p.Asn1915Lys)
NM_001110556.2(FLNA):c.5765T>A (p.Val1922Glu)
NM_001110556.2(FLNA):c.5774T>G (p.Leu1925Arg) rs2148105776
NM_001110556.2(FLNA):c.5785C>T (p.Pro1929Ser)
NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)
NM_001110556.2(FLNA):c.5815A>G (p.Asn1939Asp) rs1603359508
NM_001110556.2(FLNA):c.5822A>G (p.Gln1941Arg)
NM_001110556.2(FLNA):c.5830C>T (p.Pro1944Ser)
NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val)
NM_001110556.2(FLNA):c.5860+3G>A rs2067638896
NM_001110556.2(FLNA):c.5872A>C (p.Met1958Leu)
NM_001110556.2(FLNA):c.5873T>A (p.Met1958Lys)
NM_001110556.2(FLNA):c.5873T>C (p.Met1958Thr)
NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg) rs587780336
NM_001110556.2(FLNA):c.5883C>G (p.Ser1961=)
NM_001110556.2(FLNA):c.58G>A (p.Gly20Ser)
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser) rs2067637324
NM_001110556.2(FLNA):c.5929G>A (p.Glu1977Lys)
NM_001110556.2(FLNA):c.5937T>A (p.Asp1979Glu)
NM_001110556.2(FLNA):c.5940_5945dup (p.Ser1981_Leu1982dup) rs2148105435
NM_001110556.2(FLNA):c.5968C>T (p.Pro1990Ser)
NM_001110556.2(FLNA):c.5971T>C (p.Ser1991Pro) rs2148105391
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro) rs782401919
NM_001110556.2(FLNA):c.5993T>C (p.Leu1998Ser)
NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu)
NM_001110556.2(FLNA):c.6004C>A (p.Leu2002Met)
NM_001110556.2(FLNA):c.6022+6C>T
NM_001110556.2(FLNA):c.6022G>C (p.Gly2008Arg) rs2148105300
NM_001110556.2(FLNA):c.6023-30_6023-9dup
NM_001110556.2(FLNA):c.6023G>A (p.Gly2008Glu)
NM_001110556.2(FLNA):c.6094A>G (p.Ser2032Gly)
NM_001110556.2(FLNA):c.6101C>A (p.Pro2034His)
NM_001110556.2(FLNA):c.6106C>A (p.Pro2036Thr)
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu) rs1557176131
NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg) rs2067634018
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His) rs1557176118
NM_001110556.2(FLNA):c.6149T>C (p.Val2050Ala) rs2148104996
NM_001110556.2(FLNA):c.6151C>T (p.Arg2051Trp)
NM_001110556.2(FLNA):c.6152G>C (p.Arg2051Pro)
NM_001110556.2(FLNA):c.6152G>T (p.Arg2051Leu)
NM_001110556.2(FLNA):c.6174C>G (p.His2058Gln)
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys) rs2067633506
NM_001110556.2(FLNA):c.6193C>T (p.Pro2065Ser) rs1603359334
NM_001110556.2(FLNA):c.6196G>A (p.Ala2066Thr) rs2067633311
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys) rs1557176102
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser) rs1603363256
NM_001110556.2(FLNA):c.6205A>T (p.Ile2069Phe)
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln) rs28935469
NM_001110556.2(FLNA):c.6215C>G (p.Thr2072Ser) rs2067633067
NM_001110556.2(FLNA):c.6215C>T (p.Thr2072Ile)
NM_001110556.2(FLNA):c.621G>C (p.Pro207=)
NM_001110556.2(FLNA):c.622+3G>A rs2148119314
NM_001110556.2(FLNA):c.622+6G>A rs2067774543
NM_001110556.2(FLNA):c.622+6G>C
NM_001110556.2(FLNA):c.6227-18_6227-17insCCTGTCCTAGGTGCTAGGACCTA
NM_001110556.2(FLNA):c.623-10T>A rs2067773575
NM_001110556.2(FLNA):c.623-8C>A rs111542756
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala) rs1569551477
NM_001110556.2(FLNA):c.6302C>T (p.Thr2101Met)
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) rs782722036
NM_001110556.2(FLNA):c.6319T>G (p.Cys2107Gly) rs1557176055
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser) rs1557176052
NM_001110556.2(FLNA):c.6362C>A (p.Ala2121Asp) rs868993210
NM_001110556.2(FLNA):c.6364G>C (p.Asp2122His)
NM_001110556.2(FLNA):c.6368A>G (p.Gln2123Arg)
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) rs781999359
NM_001110556.2(FLNA):c.6379G>T (p.Gly2127Cys)
NM_001110556.2(FLNA):c.6404C>T (p.Thr2135Ile)
NM_001110556.2(FLNA):c.6422A>G (p.Lys2141Arg)
NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp) rs2067628711
NM_001110556.2(FLNA):c.6443G>A (p.Arg2148His)
NM_001110556.2(FLNA):c.6493A>C (p.Lys2165Gln)
NM_001110556.2(FLNA):c.6502+8C>G rs1603359201
NM_001110556.2(FLNA):c.6503-3C>T
NM_001110556.2(FLNA):c.6511A>G (p.Ile2171Val)
NM_001110556.2(FLNA):c.6539G>A (p.Ser2180Asn)
NM_001110556.2(FLNA):c.6545C>T (p.Ser2182Leu)
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu) rs1603359155
NM_001110556.2(FLNA):c.6588C>G (p.His2196Gln) rs2148104059
NM_001110556.2(FLNA):c.6590C>T (p.Thr2197Ile) rs2148104056
NM_001110556.2(FLNA):c.6595T>C (p.Cys2199Arg) rs2148104046
NM_001110556.2(FLNA):c.6596G>C (p.Cys2199Ser)
NM_001110556.2(FLNA):c.659A>G (p.Lys220Arg)
NM_001110556.2(FLNA):c.6603C>G (p.Arg2201=)
NM_001110556.2(FLNA):c.6644A>G (p.Lys2215Arg)
NM_001110556.2(FLNA):c.6685A>T (p.Thr2229Ser)
NM_001110556.2(FLNA):c.6688G>A (p.Val2230Met) rs2148103899
NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp) rs1057520156
NM_001110556.2(FLNA):c.671A>G (p.Asn224Ser)
NM_001110556.2(FLNA):c.6733G>A (p.Gly2245Ser) rs2148103841
NM_001110556.2(FLNA):c.6754G>A (p.Glu2252Lys)
NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser) rs1603359077
NM_001110556.2(FLNA):c.6769+4G>A rs2148103785
NM_001110556.2(FLNA):c.6773A>G (p.Glu2258Gly) rs2148103588
NM_001110556.2(FLNA):c.6779G>A (p.Ser2260Asn)
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln) rs2067772868
NM_001110556.2(FLNA):c.6809G>A (p.Gly2270Asp)
NM_001110556.2(FLNA):c.6815C>T (p.Ala2272Val)
NM_001110556.2(FLNA):c.6848T>G (p.Ile2283Ser)
NM_001110556.2(FLNA):c.6870C>A (p.Asp2290Glu) rs782651736
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe) rs1557175878
NM_001110556.2(FLNA):c.687G>A (p.Met229Ile) rs886044820
NM_001110556.2(FLNA):c.68C>A (p.Thr23Lys)
NM_001110556.2(FLNA):c.6901G>A (p.Glu2301Lys) rs2148103452
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) rs201008265
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys) rs1603358960
NM_001110556.2(FLNA):c.6928A>C (p.Lys2310Gln)
NM_001110556.2(FLNA):c.692A>G (p.Gln231Arg)
NM_001110556.2(FLNA):c.6933C>A (p.Phe2311Leu) rs2148103163
NM_001110556.2(FLNA):c.6935A>G (p.Asn2312Ser) rs2148103157
NM_001110556.2(FLNA):c.6952G>A (p.Asp2318Asn) rs1557175822
NM_001110556.2(FLNA):c.695C>G (p.Ala232Gly)
NM_001110556.2(FLNA):c.6971C>T (p.Pro2324Leu)
NM_001110556.2(FLNA):c.6994G>A (p.Ala2332Thr) rs2148103050
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu) rs782770155
NM_001110556.2(FLNA):c.7009G>C (p.Val2337Leu)
NM_001110556.2(FLNA):c.7013C>T (p.Ser2338Phe) rs781878646
NM_001110556.2(FLNA):c.7017C>A (p.Ser2339Arg)
NM_001110556.2(FLNA):c.7023+7C>T rs2067619518
NM_001110556.2(FLNA):c.7024-18del rs2148102297
NM_001110556.2(FLNA):c.7024-3C>T
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys) rs2067614826
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser) rs1557175657
NM_001110556.2(FLNA):c.7051G>C (p.Ala2351Pro) rs1557175653
NM_001110556.2(FLNA):c.7053C>T (p.Ala2351=)
NM_001110556.2(FLNA):c.7088C>A (p.Ala2363Glu)
NM_001110556.2(FLNA):c.7088C>T (p.Ala2363Val)
NM_001110556.2(FLNA):c.7093G>A (p.Asp2365Asn) rs2148102159
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) rs1164930154
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp) rs1164930154
NM_001110556.2(FLNA):c.7136A>G (p.Tyr2379Cys)
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met) rs1557179587
NM_001110556.2(FLNA):c.7156+3G>C
NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr) rs2067608494
NM_001110556.2(FLNA):c.7174T>A (p.Phe2392Ile)
NM_001110556.2(FLNA):c.7178T>A (p.Ile2393Asn)
NM_001110556.2(FLNA):c.7180C>T (p.Pro2394Ser) rs2148101380
NM_001110556.2(FLNA):c.7184G>A (p.Arg2395Gln)
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp) rs1557175461
NM_001110556.2(FLNA):c.7189A>G (p.Asn2397Asp)
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile) rs878854463
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro) rs1603358629
NM_001110556.2(FLNA):c.7221C>G (p.Asn2407Lys) rs782129907
NM_001110556.2(FLNA):c.7223_7224delinsTT (p.Gly2408Val)
NM_001110556.2(FLNA):c.7244C>T (p.Pro2415Leu)
NM_001110556.2(FLNA):c.7276G>A (p.Gly2426Arg)
NM_001110556.2(FLNA):c.7295T>G (p.Val2432Gly)
NM_001110556.2(FLNA):c.7301C>T (p.Ala2434Val)
NM_001110556.2(FLNA):c.7318G>A (p.Glu2440Lys)
NM_001110556.2(FLNA):c.7332A>G (p.Thr2444=)
NM_001110556.2(FLNA):c.7334-13_7334-11del
NM_001110556.2(FLNA):c.7351G>A (p.Val2451Ile) rs782613404
NM_001110556.2(FLNA):c.7363A>G (p.Ser2455Gly)
NM_001110556.2(FLNA):c.7369G>A (p.Ala2457Thr)
NM_001110556.2(FLNA):c.7372G>A (p.Gly2458Arg) rs2148100988
NM_001110556.2(FLNA):c.7375G>A (p.Ala2459Thr) rs1420001297
NM_001110556.2(FLNA):c.7381G>A (p.Ala2461Thr)
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile) rs878854464
NM_001110556.2(FLNA):c.7405C>T (p.Pro2469Ser)
NM_001110556.2(FLNA):c.7409C>T (p.Ser2470Phe)
NM_001110556.2(FLNA):c.7423G>A (p.Asp2475Asn) rs2148100917
NM_001110556.2(FLNA):c.7432G>A (p.Glu2478Lys)
NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe) rs2067604638
NM_001110556.2(FLNA):c.7439_7440inv (p.Pro2480Gln)
NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys) rs2067604522
NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser) rs782557713
NM_001110556.2(FLNA):c.7507G>A (p.Gly2503Ser)
NM_001110556.2(FLNA):c.7511C>T (p.Pro2504Leu)
NM_001110556.2(FLNA):c.752A>G (p.Asn251Ser)
NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg) rs2067602794
NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)
NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)
NM_001110556.2(FLNA):c.75C>A (p.Asp25Glu)
NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)
NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)
NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)
NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser) rs782714612
NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)
NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser) rs1557175287
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr) rs1060500720
NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)
NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr) rs886038966
NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)
NM_001110556.2(FLNA):c.7756+2T>A
NM_001110556.2(FLNA):c.7756+6C>A
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro) rs1603358284
NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)
NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr) rs1060500721
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs) rs1557175175
NM_001110556.2(FLNA):c.781C>G (p.Leu261Val) rs2067771137
NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala) rs782411364
NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)
NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)
NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys) rs398122812
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) rs863223635
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile) rs1557175110
NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly) rs200836471
NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro) rs782641074
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del) rs1060500715
NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp)
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu) rs1557179540
NM_001110556.2(FLNA):c.832A>G (p.Lys278Glu)
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile) rs1603363939
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys) rs1557179536
NM_001110556.2(FLNA):c.889A>C (p.Met297Leu) rs2148118498
NM_001110556.2(FLNA):c.910T>G (p.Phe304Val)
NM_001110556.2(FLNA):c.94G>A (p.Glu32Lys)
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly) rs1064816
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly) rs2067803278
NM_001110556.2(FLNA):c.974G>A (p.Gly325Glu)
NM_001110556.2(FLNA):c.982G>C (p.Glu328Gln) rs1342130392
NM_001110556.2(FLNA):c.989C>G (p.Ala330Gly)
NM_001110556.2(FLNA):c.991A>G (p.Lys331Glu)
NM_001110792.1(MECP2):c.-46_-45delGC rs782107551
NM_001110792.2(MECP2):c.-27_-26delinsTT rs786205039
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser) rs398124312
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn) rs796052810
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr) rs2147539946
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro) rs2147542686
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp) rs2147539716
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val) rs776497186
NM_001184880.2(PCDH19):c.1087C>A (p.Pro363Thr)
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys) rs1928409253
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr) rs1928407939
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn) rs1928407580
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His) rs1569315006
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val) rs1928404497
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg) rs1928402131
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser) rs2147542647
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
NM_001184880.2(PCDH19):c.1238G>C (p.Arg413Pro) rs2147539292
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val) rs2147539257
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys)
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu)
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys) rs1928399359
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu) rs1555985244
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg) rs1569314874
NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr)
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu)
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu) rs796052815
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro) rs2147539030
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn) rs2147538982
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys) rs1928392499
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp)
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val)
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys)
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser) rs201320371
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu) rs1602636091
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg)
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=) rs1602636047
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr)
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys) rs1555985142
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu) rs1060502177
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg)
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro) rs2147538640
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His) rs2147538625
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys) rs1928382143
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser) rs1928381502
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp) rs1928380918
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) rs1928380918
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val) rs2147542586
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro) rs1928379105
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln)
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu) rs766582540
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro)
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe) rs1928375319
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met) rs761718877
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg) rs1928476240
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp) rs1928373723
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala) rs1928373723
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser) rs1928372472
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp) rs2147538146
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln) rs1928475827
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala) rs1928370474
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser) rs951696281
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn) rs1928365978
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del) rs1928365074
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala) rs1928365372
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn) rs1928364873
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr) rs1928364873
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly) rs2147537779
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile)
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu) rs1569314297
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu) rs1569314304
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val) rs1928362026
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly) rs796052822
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) rs1221643775
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe) rs587784296
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe) rs2147537323
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val) rs2147537309
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) rs868762744
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr) rs1064797379
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val) rs1928473737
NM_001184880.2(PCDH19):c.2056G>A (p.Gly686Ser)
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr) rs2147537200
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
NM_001184880.2(PCDH19):c.2130C>G (p.Ile710Met)
NM_001184880.2(PCDH19):c.2148-8C>T
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met) rs1928262563
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu) rs1335592289
NM_001184880.2(PCDH19):c.2230C>T (p.Pro744Ser)
NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys) rs1407091251
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg) rs1452944576
NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys)
NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys)
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg) rs1928258437
NM_001184880.2(PCDH19):c.2288+6A>G rs948910239
NM_001184880.2(PCDH19):c.2289-2A>G rs1928233784
NM_001184880.2(PCDH19):c.2298G>C (p.Glu766Asp) rs1928233323
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg) rs1036691760
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu) rs371839798
NM_001184880.2(PCDH19):c.2365G>T (p.Val789Leu) rs1928230109
NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del)
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly) rs1226080727
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile) rs1928228798
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu) rs2147533341
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile) rs2147533269
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys) rs914370738
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys) rs773732791
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp) rs1928222467
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg) rs1602632480
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu) rs756818874
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg) rs1928470713
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu) rs924686008
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His) rs2147532962
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr) rs747735300
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln) rs1602600456
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn) rs1602600445
NM_001184880.2(PCDH19):c.2676-8C>A rs1174620986
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp) rs1926264482
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser) rs1926262402
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter) rs2147484924
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val) rs1064793304
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr)
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro) rs1200510047
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val) rs2147446474
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu) rs371109150
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val) rs1413490920
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del) rs796052825
NM_001184880.2(PCDH19):c.3001G>A (p.Asp1001Asn)
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly) rs1924624840
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val) rs1060502178
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn)
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) rs779017688
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu) rs1569284419
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser) rs2147446230
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser)
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp) rs376406896
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr) rs1327141854
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr) rs2147446139
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser) rs2147446085
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile) rs2147446072
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
NM_001184880.2(PCDH19):c.3203C>G (p.Pro1068Arg)
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp) rs2147445892
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu) rs774791898
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys) rs745989871
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys) rs2147445718
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser) rs754499060
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser) rs763455091
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro) rs770137596
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val) rs2147445596
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter) rs2147445563
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser) rs2147542128
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu) rs1924601817
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln) rs1569284025
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met) rs1924600376
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs) rs999749949
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu) rs1456843420
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup) rs1924597346
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs) rs1924597176
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs) rs764067138
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu) rs138771033
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys) rs1928464417
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn) rs1214373921
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu) rs2147542030
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser) rs1602638047
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn) rs1602637994
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln)
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly) rs1928460473
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys) rs796052799
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys)
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met)
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met) rs770381945
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg) rs2147541809
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del) rs1928454411
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe) rs587784297
NM_001184880.2(PCDH19):c.50C>T (p.Thr17Met)
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys) rs796052803
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro) rs2147541432
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val) rs1928482665
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met) rs753757730
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro) rs1413763025
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu) rs374554305
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys) rs2147541289
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn) rs796052804
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys) rs2147541189
NM_001184880.2(PCDH19):c.626C>A (p.Thr209Asn) rs1928444379
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val) rs1928443396
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val) rs935781189
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro) rs1210258504
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
NM_001184880.2(PCDH19):c.676A>G (p.Ile226Val) rs1248114037
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala) rs1555985491
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del) rs1928438102
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser) rs1602637358
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
NM_001184880.2(PCDH19):c.778C>G (p.Leu260Val)
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu) rs373181586
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys) rs1057524751
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn) rs1928481376
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser) rs1928427097
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val) rs2147540502
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys) rs1928426496
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys) rs931969825
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala) rs1555985398
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile) rs1928420254
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn)
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His) rs1928416953
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly)
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser) rs1928416253
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
NM_001272071.2(AP1S2):c.*241A>C
NM_001289.6(CLIC2):c.171G>C (p.Lys57Asn)
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala) rs2045884607
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser) rs2045884809
NM_001330360.2(POLA1):c.3212A>G (p.Asp1071Gly)
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
NM_001330360.2(POLA1):c.4001A>G (p.Asn1334Ser)
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro) rs2148341883
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys) rs2147265726
NM_001353921.2(ARHGEF9):c.1061T>G (p.Met354Arg)
NM_001353921.2(ARHGEF9):c.1077+5C>T rs2049507995
NM_001353921.2(ARHGEF9):c.1077G>A (p.Lys359=) rs1556347185
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup) rs2048830256
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg) rs2048827604
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val) rs2048826532
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser) rs2147218280
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn) rs2048824581
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val) rs2053845797
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu) rs1569441733
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
NM_001353921.2(ARHGEF9):c.1321+5G>T
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val) rs2147143865
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu) rs2147143845
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=) rs1602179094
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser) rs2147114917
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys) rs1556301404
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser) rs2147114796
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro) rs1556301359
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser) rs2147114604
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp) rs2053844904
NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu) rs2147114173
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp) rs2147114132
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu) rs1556300785
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter) rs1556300769
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His) rs1556300759
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu) rs2047401810
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His) rs374489713
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val) rs2147835608
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser) rs886044863
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
NM_001353921.2(ARHGEF9):c.30+16C>T
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
NM_001353921.2(ARHGEF9):c.31-29588A>G rs2055839126
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del rs782126971
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu) rs2052542875
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met) rs2053850779
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His) rs868956996
NM_001353921.2(ARHGEF9):c.403-3C>T rs1602447219
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe) rs2051815541
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val) rs2147450532
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser) rs2051813469
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser) rs2051812917
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly) rs1556388997
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val) rs2147334711
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001353921.2(ARHGEF9):c.653T>C (p.Leu218Pro)
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=) rs2147624503
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys) rs2147334395
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu) rs2050408893
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr) rs782266558
NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer) rs2050407403
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro) rs1602360899
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr) rs2050403490
NM_001353921.2(ARHGEF9):c.815+5G>C rs56239759
NM_001353921.2(ARHGEF9):c.815+5G>T rs56239759
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala) rs2147307964
NM_001353921.2(ARHGEF9):c.945+5G>A
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile) rs1569451962
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001356.5(DDX3X):c.122C>A (p.Pro41His) rs1341824034
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly) rs2147356713
NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val) rs2147358546
NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)
NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser) rs2063884615
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met) rs2063889558
NM_001356.5(DDX3X):c.846C>A (p.Ile282=) rs2063889864
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp) rs2063889955
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001367721.1(CASK):c.1269C>T (p.Asn423=) rs17315800
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile) rs2147155700
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser) rs587783358
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe) rs2147067804
NM_001367721.1(CASK):c.533-5T>G rs2147479605
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser) rs1448659572
NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)
NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe) rs1276990594
NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser) rs2147129316
NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)
NM_001415.4(EIF2S3):c.1183-15A>G rs1379305185
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg) rs2147132795
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg) rs1057515578
NM_001415.4(EIF2S3):c.65C>T (p.Thr22Ile)
NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met)
NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala) rs2085079076
NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys) rs2085295702
NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn)
NM_001830.4(CLCN4):c.1025G>A (p.Gly342Glu)
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly) rs763535956
NM_001830.4(CLCN4):c.1078C>A (p.Arg360Ser)
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) rs1602157389
NM_001830.4(CLCN4):c.1090A>G (p.Arg364Gly)
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu) rs1924447309
NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg)
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val)
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val) rs2147182640
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr) rs1924590136
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)
NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn)
NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu)
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)
NM_001830.4(CLCN4):c.1849A>G (p.Met617Val) rs2147183851
NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg)
NM_001830.4(CLCN4):c.1886C>T (p.Thr629Ile)
NM_001830.4(CLCN4):c.1904C>G (p.Pro635Arg)
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val)
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu) rs913431577
NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu)
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe)
NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn)
NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser) rs2147179530
NM_001830.4(CLCN4):c.928C>T (p.Pro310Ser)
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser)
NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys)
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
NM_002139.4(RBMX):c.101T>C (p.Ile34Thr) rs2148714108
NM_002139.4(RBMX):c.217-2dup
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
NM_002139.4(RBMX):c.591A>G (p.Glu197=) rs1261521581
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe) rs2077140176
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) rs866834118
NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro) rs2078108310
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val) rs2076902830
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
NM_002547.3(OPHN1):c.2159-4C>T rs587784233
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys) rs2077578419
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)
NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys) rs2053450670
NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys) rs2053457206
NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala) rs2053457309
NM_003336.4(UBE2A):c.352C>A (p.Pro118Thr)
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp) rs767224681
NM_003491.4(NAA10):c.112T>G (p.Trp38Gly) rs2148536647
NM_003491.4(NAA10):c.303C>A (p.Asn101Lys) rs781871487
NM_003491.4(NAA10):c.303C>G (p.Asn101Lys) rs781871487
NM_003491.4(NAA10):c.30C>G (p.Asp10Glu) rs2148536720
NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr) rs2148534337
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr) rs2065162376
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp) rs2065162324
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala) rs2147360370
NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)
NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004187.5(KDM5C):c.1243-3C>T
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004187.5(KDM5C):c.1583+5G>T rs2073531540
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala) rs2146914851
NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala) rs2146914266
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
NM_004187.5(KDM5C):c.2517-15T>A
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
NM_004187.5(KDM5C):c.94G>T (p.Ala32Ser)
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro) rs2067699414
NM_004586.3(RPS6KA3):c.1148G>C (p.Arg383Pro)
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val) rs2067670297
NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala) rs2148784759
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp) rs2067605278
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
NM_004586.3(RPS6KA3):c.1353+6T>A
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
NM_004586.3(RPS6KA3):c.1443+6T>C rs2067519822
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) rs2148650076
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp) rs2148635858
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370
NM_004586.3(RPS6KA3):c.1900G>T (p.Gly634Cys) rs1555926346
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
NM_004586.3(RPS6KA3):c.2100+5G>A
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)
NM_004586.3(RPS6KA3):c.243+6T>G
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val) rs1569232184
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
NM_004586.3(RPS6KA3):c.325+6T>A
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile) rs996264009
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val) rs1569216043
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg) rs1569215936
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val) rs2148686350
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_004586.3(RPS6KA3):c.999+2dup rs2067702056
NM_004595.5(SMS):c.1061+2T>C
NM_004595.5(SMS):c.113C>T (p.Ser38Leu)
NM_004595.5(SMS):c.13C>G (p.Arg5Gly) rs1921698887
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
NM_004595.5(SMS):c.289A>G (p.Met97Val)
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004595.5(SMS):c.335C>A (p.Pro112Gln)
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
NM_004606.5(TAF1):c.1436G>A (p.Gly479Glu)
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp) rs2148297957
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) rs1602490113
NM_004606.5(TAF1):c.2475G>C (p.Arg825Ser) rs2148336686
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr) rs2148336854
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val) rs1602504701
NM_004606.5(TAF1):c.2700+5A>G rs2034394782
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn) rs1555971253
NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala) rs1014764751
NM_004606.5(TAF1):c.290C>T (p.Ala97Val) rs2032706255
NM_004606.5(TAF1):c.352+7C>T rs2032710993
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn) rs1602549992
NM_004606.5(TAF1):c.4108-5C>T rs2148485195
NM_004606.5(TAF1):c.421C>G (p.Pro141Ala) rs1602451776
NM_004606.5(TAF1):c.4315C>G (p.Leu1439Val)
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser) rs1602572645
NM_004606.5(TAF1):c.4452+3A>G rs2036334224
NM_004606.5(TAF1):c.448A>G (p.Lys150Glu)
NM_004606.5(TAF1):c.4576-9A>G
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu) rs1602627327
NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)
NM_004606.5(TAF1):c.5128G>T (p.Ala1710Ser)
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer) rs2038515067
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly) rs1602459601
NM_004606.5(TAF1):c.745G>A (p.Gly249Arg)
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.2(MED12):c.6300_6329del rs773480549
NM_005120.3(MED12):c.100-10C>G
NM_005120.3(MED12):c.100-11T>G
NM_005120.3(MED12):c.100-15G>T
NM_005120.3(MED12):c.100-15_100-14delinsTT
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
NM_005120.3(MED12):c.106C>A (p.Leu36Met) rs2147769903
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr) rs2147780559
NM_005120.3(MED12):c.1101+3A>G
NM_005120.3(MED12):c.1102-6T>C
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
NM_005120.3(MED12):c.1131G>A (p.Leu377=) rs755897379
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
NM_005120.3(MED12):c.1249G>A (p.Val417Ile) rs2147783166
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys) rs2147783217
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg) rs2092292301
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn) rs2092293014
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)
NM_005120.3(MED12):c.1438C>G (p.Leu480Val)
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) rs2092293046
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly) rs1289442309
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln) rs2147787733
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr) rs863223709
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser) rs2092295382
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1744+6G>A
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp) rs2147789356
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu) rs375897167
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) rs950787066
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro) rs2147790051
NM_005120.3(MED12):c.1975-16T>C
NM_005120.3(MED12):c.1975-9T>C
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
NM_005120.3(MED12):c.205-11T>G
NM_005120.3(MED12):c.205-3C>T
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
NM_005120.3(MED12):c.216C>T (p.Asn72=)
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr) rs2147792986
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
NM_005120.3(MED12):c.2371+4G>C
NM_005120.3(MED12):c.2372-15T>A
NM_005120.3(MED12):c.2372-17_2372-6del
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
NM_005120.3(MED12):c.2422+11G>A
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln) rs1192740859
NM_005120.3(MED12):c.245G>A (p.Arg82His)
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
NM_005120.3(MED12):c.2529G>C (p.Gln843His) rs2147795833
NM_005120.3(MED12):c.2532C>G (p.Val844=)
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
NM_005120.3(MED12):c.2542-4T>G rs2147796325
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln) rs2092303365
NM_005120.3(MED12):c.2559G>A (p.Leu853=) rs2147796383
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) rs2092303518
NM_005120.3(MED12):c.267T>C (p.Thr89=)
NM_005120.3(MED12):c.2685+6G>A rs2147796689
NM_005120.3(MED12):c.272G>A (p.Arg91His) rs1057524478
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe) rs2147799414
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
NM_005120.3(MED12):c.2982-14C>T
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met) rs753751305
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala) rs2147800946
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser) rs2147801044
NM_005120.3(MED12):c.3209+4T>C
NM_005120.3(MED12):c.3209+6G>A
NM_005120.3(MED12):c.3209+7G>T rs2147801168
NM_005120.3(MED12):c.320C>T (p.Ala107Val) rs2092284960
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val) rs2092308336
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
NM_005120.3(MED12):c.3354+6A>C
NM_005120.3(MED12):c.33C>A (p.His11Gln)
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp) rs1389138246
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln) rs2147804813
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg) rs2147804938
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) rs2092311027
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val) rs2092311035
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3641G>A (p.Arg1214His) rs2092311084
NM_005120.3(MED12):c.3691+9G>A
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) rs2092312145
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser) rs776373565
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val) rs2147807429
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly) rs2147807641
NM_005120.3(MED12):c.3868-11A>G
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys) rs901783069
NM_005120.3(MED12):c.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
NM_005120.3(MED12):c.4048-3C>T
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn) rs2147813483
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr) rs2147813494
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg) rs2092319173
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro) rs2147814288
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu) rs2147814559
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) rs2092320033
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys) rs759105512
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys) rs868164882
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg) rs2147817009
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
NM_005120.3(MED12):c.454C>T (p.Pro152Ser) rs2147774389
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
NM_005120.3(MED12):c.466G>A (p.Ala156Thr) rs2147774436
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu) rs767396596
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser) rs2147822394
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln) rs2092328967
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu) rs2147826599
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln) rs748064846
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.5400+4A>G
NM_005120.3(MED12):c.5400+6C>A
NM_005120.3(MED12):c.5401-3C>A rs1180673067
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu) rs2147827854
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu) rs368093012
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln) rs1432487094
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr) rs2092334189
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
NM_005120.3(MED12):c.5552-3C>T
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys) rs2147829625
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu) rs767294730
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg) rs2147829667
NM_005120.3(MED12):c.5748+11T>G
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro) rs2147830190
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.5849A>T (p.His1950Leu) rs2092336344
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr) rs2092336411
NM_005120.3(MED12):c.5897C>A (p.Pro1966His) rs2147830796
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys) rs1009330609
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser) rs2092336678
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu) rs2147831227
NM_005120.3(MED12):c.6022C>A (p.His2008Asn) rs2147831234
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
NM_005120.3(MED12):c.6045-7T>G
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala) rs2092344746
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup) rs769857818
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del) rs773709991
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del) rs753370104
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup) rs2147839452
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln) rs1602306967
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup) rs786200971
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln) rs1001050248
NM_005120.3(MED12):c.6267+3A>C rs2092345559
NM_005120.3(MED12):c.6268-3T>C
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup) rs1425637621
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup) rs2092346839
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup) rs2147841816
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
NM_005120.3(MED12):c.6408+16C>T rs1057522248
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile) rs2147844978
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
NM_005120.3(MED12):c.6490+6C>T rs2147845031
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu) rs2092350107
NM_005120.3(MED12):c.658G>C (p.Gly220Arg) rs2147777706
NM_005120.3(MED12):c.66C>A (p.Pro22=) rs2092281557
NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
NM_005120.3(MED12):c.706A>G (p.Thr236Ala) rs2147777907
NM_005120.3(MED12):c.70G>A (p.Val24Ile) rs2092281566
NM_005120.3(MED12):c.715C>G (p.Leu239Val)
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
NM_005120.3(MED12):c.735+13G>T
NM_005120.3(MED12):c.736-3T>C rs2092288995
NM_005120.3(MED12):c.823C>G (p.Leu275Val) rs2147778826
NM_005120.3(MED12):c.846+3A>T
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
NM_005120.3(MED12):c.884G>A (p.Arg295His)
NM_005120.3(MED12):c.886C>T (p.Arg296Trp)
NM_005120.3(MED12):c.89A>G (p.Lys30Arg) rs2147767167
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
NM_005120.3(MED12):c.934G>A (p.Val312Met) rs377403264
NM_005120.3(MED12):c.938G>A (p.Ser313Asn) rs1317622485
NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
NM_005120.3(MED12):c.965C>T (p.Ala322Val) rs2092289745
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
NM_005120.3(MED12):c.988A>C (p.Thr330Pro) rs2147780054
NM_005120.3(MED12):c.99G>A (p.Glu33=)
NM_005634.3(SOX3):c.1265G>A (p.Arg422His)
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005634.3(SOX3):c.791T>G (p.Val264Gly) rs1927323032
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val) rs1927055441
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
NM_005765.3(ATP6AP2):c.168+3A>G
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu) rs2146539439
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu) rs796052283
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro) rs1926620037
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn) rs1450455949
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser) rs1926621605
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=) rs1926309103
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)
NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
NM_005765.3(ATP6AP2):c.37+5G>A
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile) rs1555977799
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala) rs1926802970
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser) rs2146542684
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu) rs866274169
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser) rs1926552105
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala) rs773037776
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn) rs2146543666
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
NM_005765.3(ATP6AP2):c.739-5_739-4del
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr) rs2146544175
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met) rs1555978066
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
NM_005765.3(ATP6AP2):c.858+4A>G
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=) rs1555978069
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile) rs2146547241
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp) rs1555978614
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met) rs2146547252
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)
NM_006013.5(RPL10):c.191-5C>T rs1286783643
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
NM_006013.5(RPL10):c.218A>C (p.Asn73Thr) rs2148138707
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu) rs1131692040
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln) rs2068007021
NM_006013.5(RPL10):c.535G>A (p.Asp179Asn)
NM_006013.5(RPL10):c.578A>G (p.Asp193Gly) rs2068013450
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) rs933036653
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) rs1928309226
NM_006517.5(SLC16A2):c.431-44029A>C rs1303981973
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp) rs1930457917
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)
NM_006521.6(TFE3):c.569_583del (p.His190_Ala194del) rs2147776427
NM_006521.6(TFE3):c.583_597dup (p.Arg195_Val199dup) rs2147776393
NM_006521.6(TFE3):c.593A>C (p.Gln198Pro)
NM_006521.6(TFE3):c.780+1_780+2dup
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser) rs2057777720
NM_006950.3(SYN1):c.101C>T (p.Pro34Leu) rs2147933524
NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr) rs2057777596
NM_006950.3(SYN1):c.1055+5G>A rs1479589627
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
NM_006950.3(SYN1):c.1093G>A (p.Gly365Arg) rs2147913172
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp) rs141925310
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del) rs2057941937
NM_006950.3(SYN1):c.1158+8C>T
NM_006950.3(SYN1):c.1159-6C>T rs2057774148
NM_006950.3(SYN1):c.1161G>A (p.Val387=) rs2057774095
NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu) rs2057773904
NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg) rs2057941966
NM_006950.3(SYN1):c.1228G>A (p.Val410Met)
NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly) rs780269723
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
NM_006950.3(SYN1):c.1269G>T (p.Gln423His)
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp) rs2057773624
NM_006950.3(SYN1):c.1271G>A (p.Arg424Gln)
NM_006950.3(SYN1):c.1310C>A (p.Pro437Gln)
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu) rs1603050776
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr) rs772106134
NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)
NM_006950.3(SYN1):c.1331_1336del (p.Leu444_Arg446delinsCys)
NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)
NM_006950.3(SYN1):c.1354C>T (p.Pro452Ser) rs2147912470
NM_006950.3(SYN1):c.1355C>T (p.Pro452Leu) rs2147912468
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser) rs1371497364
NM_006950.3(SYN1):c.1394-7C>A rs1411087897
NM_006950.3(SYN1):c.139G>A (p.Gly47Arg) rs1477670336
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser) rs797046019
NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)
NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu) rs2147912337
NM_006950.3(SYN1):c.1490G>A (p.Gly497Glu) rs2147912324
NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)
NM_006950.3(SYN1):c.1556C>T (p.Ala519Val)
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val) rs1341949224
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu) rs2057770771
NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile) rs2147912281
NM_006950.3(SYN1):c.1592G>A (p.Arg531His) rs2147912269
NM_006950.3(SYN1):c.1600C>T (p.Arg534Trp)
NM_006950.3(SYN1):c.1609G>A (p.Ala537Thr) rs1603050507
NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe) rs2057770383
NM_006950.3(SYN1):c.1654C>T (p.Pro552Ser)
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu) rs913197225
NM_006950.3(SYN1):c.1673C>T (p.Ala558Val) rs2147912173
NM_006950.3(SYN1):c.1682C>G (p.Pro561Arg) rs2147912162
NM_006950.3(SYN1):c.169G>A (p.Val57Ile) rs1200321961
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser) rs1284009431
NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)
NM_006950.3(SYN1):c.1726A>G (p.Lys576Glu)
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val) rs2057769764
NM_006950.3(SYN1):c.1754A>G (p.Gln585Arg)
NM_006950.3(SYN1):c.1759C>T (p.Arg587Cys)
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu) rs1339706473
NM_006950.3(SYN1):c.1820C>G (p.Ala607Gly)
NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)
NM_006950.3(SYN1):c.1837A>C (p.Thr613Pro) rs1603050300
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys) rs1160768934
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
NM_006950.3(SYN1):c.1905G>T (p.Gln635His)
NM_006950.3(SYN1):c.1946C>T (p.Thr649Ile)
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu) rs1333198986
NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)
NM_006950.3(SYN1):c.1970A>C (p.His657Pro) rs992542097
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser) rs755832757
NM_006950.3(SYN1):c.1976A>G (p.Gln659Arg)
NM_006950.3(SYN1):c.1982+10C>A rs752321936
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser) rs2057764675
NM_006950.3(SYN1):c.2044C>T (p.Leu682Phe) rs2147911481
NM_006950.3(SYN1):c.236C>T (p.Ser79Leu)
NM_006950.3(SYN1):c.250G>A (p.Val84Ile)
NM_006950.3(SYN1):c.260C>A (p.Thr87Asn) rs2147933414
NM_006950.3(SYN1):c.272C>T (p.Ala91Val) rs2147933405
NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg) rs2057941013
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr) rs794726957
NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro) rs1556861785
NM_006950.3(SYN1):c.376T>A (p.Trp126Arg) rs1556861783
NM_006950.3(SYN1):c.377+4A>T rs2147933325
NM_006950.3(SYN1):c.377+5G>A
NM_006950.3(SYN1):c.377+6C>A
NM_006950.3(SYN1):c.377+6C>G rs1165500127
NM_006950.3(SYN1):c.405C>G (p.Ile135Met)
NM_006950.3(SYN1):c.42G>C (p.Met14Ile)
NM_006950.3(SYN1):c.435G>A (p.Gln145=) rs2147928661
NM_006950.3(SYN1):c.472A>C (p.Asn158His) rs759485248
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser) rs1289234549
NM_006950.3(SYN1):c.517_525del (p.Lys173_Val175del) rs2147928561
NM_006950.3(SYN1):c.523G>A (p.Val175Met)
NM_006950.3(SYN1):c.527G>A (p.Arg176Gln)
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu) rs773013704
NM_006950.3(SYN1):c.548T>C (p.Val183Ala)
NM_006950.3(SYN1):c.553A>G (p.Ile185Val)
NM_006950.3(SYN1):c.581G>A (p.Arg194His) rs373152478
NM_006950.3(SYN1):c.592T>C (p.Tyr198His) rs2057893070
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn) rs1556860638
NM_006950.3(SYN1):c.684+5_684+8del
NM_006950.3(SYN1):c.685-3T>C rs2057892214
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln) rs2057892166
NM_006950.3(SYN1):c.707A>G (p.His236Arg)
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe) rs2057891950
NM_006950.3(SYN1):c.774+3G>A rs2057891910
NM_006950.3(SYN1):c.774G>T (p.Met258Ile)
NM_006950.3(SYN1):c.775-3C>T
NM_006950.3(SYN1):c.794C>T (p.Pro265Leu) rs2057781537
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys) rs2057942233
NM_006950.3(SYN1):c.860A>C (p.Asp287Ala) rs2147913414
NM_006950.3(SYN1):c.88C>G (p.Pro30Ala) rs2147933540
NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)
NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)
NM_006950.3(SYN1):c.953A>C (p.Lys318Thr) rs2057778186
NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
NM_006950.3(SYN1):c.986C>A (p.Thr329Lys) rs2057777813
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813
NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp) rs2045453992
NM_007325.5(GRIA3):c.1261G>C (p.Glu421Gln)
NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)
NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)
NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)
NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg) rs398123524
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) rs1569441235
NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala) rs866395967
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) rs1569443329
NM_007325.5(GRIA3):c.268+16792G>A rs1927781157
NM_007325.5(GRIA3):c.536A>G (p.Glu179Gly)
NM_007325.5(GRIA3):c.69G>A (p.Leu23=) rs759740734
NM_007325.5(GRIA3):c.783G>A (p.Met261Ile)
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg) rs2045406349
NM_007325.5(GRIA3):c.826G>C (p.Glu276Gln) rs2147378779
NM_007325.5(GRIA3):c.949A>G (p.Ile317Val) rs2147381088
NM_007363.5(NONO):c.809G>T (p.Arg270Leu)
NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys) rs2091890198
NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) rs2092188951
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) rs2092208925
NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser) rs2092417660
NM_014927.5(CNKSR2):c.1844_1846del (p.Glu615del) rs2147257943
NM_014927.5(CNKSR2):c.1904+6T>C
NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del) rs770084913
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) rs1288431232
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) rs2090566346
NM_015107.3(PHF8):c.-63C>A rs781976643
NM_015107.3(PHF8):c.1185T>C (p.His395=) rs1468021929
NM_015107.3(PHF8):c.1233+6T>C
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg) rs2065708006
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
NM_015107.3(PHF8):c.1620del (p.Ala541fs) rs2149839580
NM_015107.3(PHF8):c.197G>A (p.Arg66His) rs1557110261
NM_015107.3(PHF8):c.2129+39G>C rs2065554551
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro) rs782358977
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln) rs2149796421
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
NM_015107.3(PHF8):c.865A>T (p.Asn289Tyr)
NM_016032.4(ZDHHC9):c.1003A>T (p.Asn335Tyr)
NM_016032.4(ZDHHC9):c.1021A>G (p.Ser341Gly)
NM_016032.4(ZDHHC9):c.1028C>T (p.Thr343Ile) rs2124096171
NM_016032.4(ZDHHC9):c.1034A>C (p.Glu345Ala)
NM_016032.4(ZDHHC9):c.1055C>G (p.Pro352Arg) rs893901934
NM_016032.4(ZDHHC9):c.1075G>A (p.Ala359Thr) rs1927515432
NM_016032.4(ZDHHC9):c.1084G>C (p.Ala362Pro)
NM_016032.4(ZDHHC9):c.180G>A (p.Leu60=)
NM_016032.4(ZDHHC9):c.184G>A (p.Val62Ile)
NM_016032.4(ZDHHC9):c.197C>T (p.Pro66Leu)
NM_016032.4(ZDHHC9):c.220A>G (p.Met74Val)
NM_016032.4(ZDHHC9):c.222G>A (p.Met74Ile)
NM_016032.4(ZDHHC9):c.23A>G (p.Lys8Arg)
NM_016032.4(ZDHHC9):c.244A>G (p.Thr82Ala) rs2124124631
NM_016032.4(ZDHHC9):c.266G>C (p.Ser89Thr)
NM_016032.4(ZDHHC9):c.274G>A (p.Gly92Arg) rs2124124576
NM_016032.4(ZDHHC9):c.313A>G (p.Ile105Val) rs2124124514
NM_016032.4(ZDHHC9):c.328G>A (p.Glu110Lys)
NM_016032.4(ZDHHC9):c.373C>T (p.Arg125Cys)
NM_016032.4(ZDHHC9):c.397A>C (p.Asn133His) rs1556006445
NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys) rs911311531
NM_016032.4(ZDHHC9):c.412C>A (p.Leu138Met) rs142944444
NM_016032.4(ZDHHC9):c.421T>C (p.Cys141Arg) rs1927945327
NM_016032.4(ZDHHC9):c.443G>A (p.Arg148Gln) rs2124117199
NM_016032.4(ZDHHC9):c.491G>A (p.Arg164His)
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016032.4(ZDHHC9):c.516G>A (p.Val172=)
NM_016032.4(ZDHHC9):c.523T>G (p.Cys175Gly) rs2124105731
NM_016032.4(ZDHHC9):c.53C>G (p.Pro18Arg) rs1928391209
NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys) rs2124105703
NM_016032.4(ZDHHC9):c.562A>G (p.Ile188Val)
NM_016032.4(ZDHHC9):c.566T>C (p.Leu189Pro)
NM_016032.4(ZDHHC9):c.586A>G (p.Ile196Val)
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu) rs2124105600
NM_016032.4(ZDHHC9):c.614A>G (p.Tyr205Cys) rs2124105555
NM_016032.4(ZDHHC9):c.673A>G (p.Thr225Ala) rs1927697408
NM_016032.4(ZDHHC9):c.698T>C (p.Phe233Ser)
NM_016032.4(ZDHHC9):c.715G>A (p.Val239Ile)
NM_016032.4(ZDHHC9):c.718G>A (p.Val240Met)
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu) rs770589013
NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys) rs1927670769
NM_016032.4(ZDHHC9):c.76G>A (p.Asp26Asn)
NM_016032.4(ZDHHC9):c.770A>G (p.Asn257Ser)
NM_016032.4(ZDHHC9):c.790T>C (p.Trp264Arg)
NM_016032.4(ZDHHC9):c.805C>T (p.Arg269Cys)
NM_016032.4(ZDHHC9):c.913G>C (p.Glu305Gln)
NM_016032.4(ZDHHC9):c.925A>G (p.Ser309Gly) rs1927626006
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser) rs1927624839
NM_016032.4(ZDHHC9):c.952A>T (p.Ser318Cys)
NM_016032.4(ZDHHC9):c.961C>T (p.Leu321Phe)
NM_016032.4(ZDHHC9):c.978+6T>G
NM_016032.4(ZDHHC9):c.979G>A (p.Ala327Thr)
NM_016032.4(ZDHHC9):c.984del (p.Thr329fs) rs779289842
NM_019597.5(HNRNPH2):c.1019A>T (p.Asp340Val) rs1928852920
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly) rs1931268073
NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser) rs1931266627
NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr) rs1473207542
NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp) rs1931243162
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala) rs1931218179
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr) rs1931184202
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu) rs1313449720
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile) rs782154529
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile) rs1569546782
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu) rs1477304591
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln) rs1929724067
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)
NM_020717.5(SHROOM4):c.3942+1G>A
NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser) rs1931302115
NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)
NM_020922.5(WNK3):c.322_323del (p.Gln108fs)
NM_024528.4(NKAP):c.1073+1672_1074-1701del
NM_024528.4(NKAP):c.128G>A (p.Arg43His)
NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
NM_024528.4(NKAP):c.812A>T (p.Glu271Val)
NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg) rs867562406
NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)
NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu) rs186130633
NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala)
NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser) rs1569438242
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile) rs2068997748
NM_031206.7(LAS1L):c.1301-10T>C
NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp) rs1556301877
NM_031206.7(LAS1L):c.1505G>A (p.Arg502His)
NM_031206.7(LAS1L):c.1570C>A (p.Pro524Thr)
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala) rs2068725707
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del) rs747219544
NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)
NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala) rs2148270110
NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile) rs2148270017
NM_031206.7(LAS1L):c.1961G>T (p.Arg654Leu) rs1556298998
NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp) rs762602796
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln) rs900809839
NM_031206.7(LAS1L):c.2057A>G (p.Glu686Gly)
NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)
NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)
NM_031206.7(LAS1L):c.311G>T (p.Gly104Val)
NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp) rs2069620231
NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg)
NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn) rs1569443405
NM_031206.7(LAS1L):c.515-6C>G rs1379421207
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu) rs778389447
NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn) rs755168381
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala) rs2069367677
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
NM_031206.7(LAS1L):c.942_956+6dup
NM_031206.7(LAS1L):c.947G>A (p.Cys316Tyr)
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala) rs2061606792
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
NM_031407.7(HUWE1):c.11501A>T (p.Glu3834Val)
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
NM_031407.7(HUWE1):c.12293A>G (p.His4098Arg) rs2146879830
NM_031407.7(HUWE1):c.12335G>A (p.Arg4112His)
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala) rs2146826433
NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile) rs2060994971
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12778G>A (p.Asp4260Asn)
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala) rs2066616886
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu) rs2066586691
NM_031407.7(HUWE1):c.1489+6T>C
NM_031407.7(HUWE1):c.1779+5G>A rs2148854427
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)
NM_031407.7(HUWE1):c.2195_2203del (p.Glu732_Glu734del)
NM_031407.7(HUWE1):c.2210C>T (p.Ala737Val) rs2148818275
NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys)
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)
NM_031407.7(HUWE1):c.2656T>A (p.Ser886Thr)
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)
NM_031407.7(HUWE1):c.3205CTT[1] (p.Leu1070del)
NM_031407.7(HUWE1):c.353A>G (p.His118Arg)
NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr) rs371644969
NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)
NM_031407.7(HUWE1):c.3896GAG[1] (p.Gly1300del)
NM_031407.7(HUWE1):c.401T>G (p.Val134Gly)
NM_031407.7(HUWE1):c.4461+96T>G rs1020095850
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu) rs2149250400
NM_031407.7(HUWE1):c.485G>A (p.Arg162Gln)
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys) rs2148314338
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)
NM_031407.7(HUWE1):c.5884+3A>G rs2148030893
NM_031407.7(HUWE1):c.5885-1G>C
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val)
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)
NM_031407.7(HUWE1):c.6866A>T (p.Asn2289Ile)
NM_031407.7(HUWE1):c.7305GGA[6] (p.Glu2440dup) rs781877059
NM_031407.7(HUWE1):c.7507+7T>C rs2147654560
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys) rs2062224866
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
NM_031407.7(HUWE1):c.8321T>C (p.Leu2774Pro)
NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser) rs2047925685
NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu) rs2147326587
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly) rs1401359685
NM_031407.7(HUWE1):c.9118G>A (p.Glu3040Lys)
NM_031407.7(HUWE1):c.9166A>C (p.Met3056Leu) rs2147292812
NM_031407.7(HUWE1):c.9514C>G (p.Leu3172Val) rs2147253217
NM_031407.7(HUWE1):c.9608G>A (p.Ser3203Asn)
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
NM_080632.3(UPF3B):c.263+19_263+20delinsAA
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly) rs2147790181
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) rs2056156815
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)
NM_139058.3(ARX):c.1495G>A (p.Ala499Thr) rs2147318769
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
NM_139058.3(ARX):c.260G>C (p.Arg87Pro) rs786203995
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_203475.3(PORCN):c.1012G>T (p.Ala338Ser)
NM_203475.3(PORCN):c.1225C>T (p.His409Tyr)
NM_203475.3(PORCN):c.329+1G>C
NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs) rs1556974808
NM_203475.3(PORCN):c.964C>G (p.Leu322Val) rs782200118
Single allele

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