ClinVar Miner

List of variants reported as pathogenic for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7844
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02396
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_016097.5(IER3IP1):c.*58T>C rs150586939 0.00406
NM_024818.4(UBA5):c.-823C>A rs151048899 0.00280
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) rs145873257 0.00156
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_018723.4(RBFOX1):c.677-5C>T rs147023054 0.00077
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_177924.5(ASAH1):c.620A>T (p.Tyr207Phe) rs150268016 0.00049
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111 0.00016
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) rs144234059 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) rs202020647 0.00014
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter) rs121912708 0.00010
NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) rs147748994 0.00010
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter) rs201740530 0.00010
NM_007198.4(PLPBP):c.207+1G>A rs767795673 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384 0.00008
NM_001365999.1(SZT2):c.7474C>T (p.Arg2492Trp) rs373062274 0.00007
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839 0.00006
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_005918.4(MDH2):c.517G>A (p.Asp173Asn) rs372196070 0.00006
NM_006922.4(SCN3A):c.2443G>A (p.Asp815Asn) rs755440336 0.00006
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu) rs755946598 0.00006
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His) rs375168720 0.00006
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter) rs368928190 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_006922.4(SCN3A):c.1070G>A (p.Arg357Gln) rs774195502 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_018129.4(PNPO):c.413G>A (p.Arg138His) rs764940495 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) rs780360360 0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg) rs556400964 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=) rs201948406 0.00004
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) rs777483675 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_003359.4(UGDH):c.131C>T (p.Ala44Val) rs749975104 0.00004
NM_006922.4(SCN3A):c.4114A>G (p.Met1372Val) rs758906955 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840 0.00004
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_152743.4(BRAT1):c.617T>A (p.Leu206Ter) rs762469913 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) rs768633670 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_203446.3(SYNJ1):c.-12G>T rs1040540690 0.00004
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter) rs747261340 0.00004
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu) rs151107837 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu) rs121918334 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620 0.00003
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005918.4(MDH2):c.109G>A (p.Gly37Arg) rs782308462 0.00003
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter) rs778043139 0.00003
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_016614.3(TDP2):c.425+1G>A rs372245668 0.00003
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) rs776248931 0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) rs759216914 0.00003
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter) rs796052504 0.00003
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_001003787.4(STRADA):c.140C>G (p.Ser47Ter) rs375396155 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733 0.00002
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) rs121918805 0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln) rs754449549 0.00002
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs) rs772766995 0.00002
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter) rs757377110 0.00002
NM_001182.5(ALDH7A1):c.332G>A (p.Gly111Glu) rs994001880 0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs) rs1064794241 0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser) rs372660425 0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys) rs768570935 0.00002
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter) rs202211795 0.00002
NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter) rs377543079 0.00002
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp) rs765848129 0.00002
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) rs62130681 0.00002
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) rs201330912 0.00002
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622 0.00002
NM_004855.5(PIGB):c.695G>A (p.Arg232His) rs758196959 0.00002
NM_006279.5(ST3GAL3):c.166+1G>A rs148531289 0.00002
NM_007254.4(PNKP):c.318G>A (p.Trp106Ter) rs2074810148 0.00002
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032 0.00002
NM_014334.4(FRRS1L):c.583G>T (p.Gly195Ter) rs1035742818 0.00002
NM_014849.5(SV2A):c.1148G>A (p.Arg383Gln) rs782514088 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_018129.4(PNPO):c.364-1G>A rs774710082 0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) rs769266169 0.00002
NM_020771.4(HACE1):c.994C>T (p.Arg332Ter) rs759641985 0.00002
NM_022786.3(ARV1):c.565G>A (p.Gly189Arg) rs730882241 0.00002
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys) rs748743403 0.00002
NM_152743.4(BRAT1):c.1395G>A (p.Thr465=) rs201855243 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser) rs780082503 0.00002
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) rs370985865 0.00001
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg) rs74315443 0.00001
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter) rs545986367 0.00001
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) rs121908869 0.00001
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter) rs774592932 0.00001
NM_001003787.4(STRADA):c.1036C>T (p.Arg346Ter) rs748855607 0.00001
NM_001003787.4(STRADA):c.28C>T (p.Arg10Ter) rs1387899682 0.00001
NM_001003787.4(STRADA):c.682C>T (p.Arg228Ter) rs35598314 0.00001
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp) rs764758291 0.00001
NM_001037.5(SCN1B):c.166G>A (p.Glu56Lys) rs774152936 0.00001
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter) rs886037961 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr) rs577006493 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001134407.3(GRIN2A):c.2289T>G (p.Ile763Met) rs1903130042 0.00001
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer) rs2093893902 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln) rs794727025 0.00001
NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) rs750516202 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.2369A>T (p.Tyr790Phe) rs121918782 0.00001
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) rs121918801 0.00001
NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser) rs1553552390 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) rs970867558 0.00001
NM_001182.5(ALDH7A1):c.1003C>T (p.Arg335Ter) rs1015686016 0.00001
NM_001182.5(ALDH7A1):c.1008+1G>A rs1482167835 0.00001
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys) rs1471249688 0.00001
NM_001182.5(ALDH7A1):c.1088G>A (p.Trp363Ter) rs781254582 0.00001
NM_001182.5(ALDH7A1):c.1200+1G>T rs1217642695 0.00001
NM_001182.5(ALDH7A1):c.1477G>T (p.Gly493Ter) rs767756650 0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A rs368820286 0.00001
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys) rs200102503 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001182.5(ALDH7A1):c.1566-1G>T rs140845195 0.00001
NM_001182.5(ALDH7A1):c.246+1G>A rs764588746 0.00001
NM_001182.5(ALDH7A1):c.312+1G>A rs199497486 0.00001
NM_001182.5(ALDH7A1):c.530C>A (p.Ala177Glu) rs764417585 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.651-3_651-1del rs1337742915 0.00001
NM_001182.5(ALDH7A1):c.796C>T (p.Arg266Ter) rs1270423610 0.00001
NM_001182.5(ALDH7A1):c.901_902del (p.Asn301fs) rs1064794240 0.00001
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu) rs148052962 0.00001
NM_001182.5(ALDH7A1):c.984del (p.Arg329fs) rs1275490470 0.00001
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser) rs1183009408 0.00001
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) rs199744635 0.00001
NM_001242896.3(DEPDC5):c.-57G>C rs1383795440 0.00001
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter) rs587777459 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.1958dup (p.His653fs) rs1475605360 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224 0.00001
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001324418.2(ADAM22):c.1202G>A (p.Cys401Tyr) rs747259064 0.00001
NM_001330260.2(SCN8A):c.1339C>T (p.Gln447Ter) rs1060501012 0.00001
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter) rs1346732190 0.00001
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter) rs770358039 0.00001
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900 0.00001
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484 0.00001
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) rs1329907808 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) rs1024152367 0.00001
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216 0.00001
NM_001365536.1(SCN9A):c.4828C>T (p.Arg1610Ter) rs775654130 0.00001
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter) rs751948774 0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_001365999.1(SZT2):c.2929+1G>A rs1295389410 0.00001
NM_001365999.1(SZT2):c.3977C>T (p.Ala1326Val) rs747241860 0.00001
NM_001365999.1(SZT2):c.4135C>T (p.Arg1379Trp) rs752473314 0.00001
NM_001365999.1(SZT2):c.5165G>A (p.Arg1722His) rs562214305 0.00001
NM_001365999.1(SZT2):c.7112A>T (p.Glu2371Val) rs1306918506 0.00001
NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) rs748723710 0.00001
NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) rs766294629 0.00001
NM_001365999.1(SZT2):c.9874C>T (p.Arg3292Ter) rs1302034044 0.00001
NM_001367561.1(DOCK7):c.1501C>T (p.Arg501Ter) rs1174717913 0.00001
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.6265G>T (p.Glu2089Ter) rs587777485 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly) rs1247507359 0.00001
NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile) rs1479789276 0.00001
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg) rs1574906609 0.00001
NM_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter) rs1158418673 0.00001
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407 0.00001
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) rs121434396 0.00001
NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter) rs1206309859 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) rs1380954046 0.00001
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) rs764802895 0.00001
NM_004341.5(CAD):c.2995G>A (p.Val999Met) rs1475014505 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004366.6(CLCN2):c.1143del (p.Gly382fs) rs863225252 0.00001
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) rs1293789661 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004855.5(PIGB):c.212G>A (p.Arg71Gln) rs369838467 0.00001
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter) rs923907091 0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NM_005249.5(FOXG1):c.239dup (p.Ala81fs) rs796052474 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter) rs886041078 0.00001
NM_005506.4(SCARB2):c.704+1G>A rs886041076 0.00001
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) rs121909118 0.00001
NM_005670.4(EPM2A):c.301+1G>T rs1361221383 0.00001
NM_005670.4(EPM2A):c.302-1G>C rs369463720 0.00001
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_005918.4(MDH2):c.885+5G>A rs552544806 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu) rs1159593580 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_007198.4(PLPBP):c.320-2A>G rs1057519424 0.00001
NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro) rs752753379 0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln) rs760609867 0.00001
NM_007254.4(PNKP):c.1066G>T (p.Glu356Ter) rs1170743406 0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688 0.00001
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945 0.00001
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579 0.00001
NM_007254.4(PNKP):c.363dup (p.Thr122fs) rs745505490 0.00001
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116 0.00001
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014334.4(FRRS1L):c.-78G>T rs1310777849 0.00001
NM_014334.4(FRRS1L):c.568del (p.Ala190fs) rs747737869 0.00001
NM_014592.4(KCNIP1):c.328G>A (p.Asp110Asn) rs1763869544 0.00001
NM_015267.4(CUX2):c.2834C>T (p.Thr945Met) rs1351590882 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) rs998928845 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016373.4(WWOX):c.172+1G>C rs1377640182 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter) rs796052414 0.00001
NM_018129.4(PNPO):c.178A>T (p.Lys60Ter) rs751477334 0.00001
NM_018129.4(PNPO):c.263+1G>C rs895303255 0.00001
NM_018129.4(PNPO):c.284G>A (p.Arg95His) rs552833222 0.00001
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) rs104894629 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) rs372761949 0.00001
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter) rs1337798545 0.00001
NM_020771.4(HACE1):c.655C>T (p.Arg219Ter) rs869025280 0.00001
NM_020771.4(HACE1):c.805C>T (p.Arg269Ter) rs750371878 0.00001
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile) rs1832838063 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021927.3(GUF1):c.1825G>T (p.Ala609Ser) rs879255631 0.00001
NM_022786.3(ARV1):c.294+1G>A rs150619347 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter) rs886039756 0.00001
NM_030630.3(HID1):c.1297C>T (p.Arg433Trp) rs994473385 0.00001
NM_033453.4(ITPA):c.264-1G>A rs781254071 0.00001
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) rs200086262 0.00001
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) rs746930990 0.00001
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_152743.4(BRAT1):c.1590del (p.Trp531fs) rs755075934 0.00001
NM_152743.4(BRAT1):c.34del (p.Leu12fs) rs1780257580 0.00001
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.456G>A (p.Val152=) rs796052686 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys) rs387907246 0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys) rs141191660 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter) rs1334776746 0.00001
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs) rs1227986180 0.00001
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs) rs778394516 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
CHD2, ARG1644LYSFSTER22
CHD2, GLU1412GLYFSTER64
CHD2, GLY491VALFSTER13
CHD2, TRP548ARG
GRCh37/hg19 14q12(chr14:27450705-31529481)x3
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
GRCh37/hg19 16q23.1(chr16:78143268-78154701)
GRCh37/hg19 16q23.1(chr16:78409180-78431277)
GRCh37/hg19 16q23.1(chr16:78458767-78458953)
GRCh37/hg19 16q23.1(chr16:78458774-78463512)
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1
GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
GRCh37/hg19 2q24.3(chr2:166872248-167334216)
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1
GRCh37/hg19 9q34.11(chr9:130431762-130432190)x1
GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
GRCh38/hg38 16q23.1(chr16:78064581-78164300)x1
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 1p34.2(chr1:42278946-43598390)
GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)
GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1
GRCh38/hg38 2q24.3(chr2:165317618-165327618)x1
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
NC_000001.10:g.(?_110603355)_(111147404_?)del
NC_000001.10:g.(?_151314662)_(151666077_?)del
NC_000001.10:g.(?_205022314)_(205042893_?)del
NC_000001.10:g.(?_243668551)_(245027609_?)del
NC_000001.10:g.(?_244999017)_(245020178_?)dup
NC_000001.10:g.(?_245018389)_(245019742_?)del
NC_000001.10:g.(?_44201934)_(44482805_?)del
NC_000001.10:g.(?_44360035)_(44360169_?)del
NC_000001.10:g.(?_62921085)_(63153935_?)del
NC_000001.10:g.(?_62971367)_62980255del
NC_000001.10:g.(?_62976228)_(63153935_?)del
NC_000001.10:g.(?_62994928)_(63048945_?)del
NC_000001.11:g.(?_110593873)_(110604802_?)del
NC_000001.11:g.(?_244860315)_(244862750_?)del
NC_000001.11:g.(?_42925375)_(42959176_?)del
NC_000001.11:g.42943313_42943322del rs587784393
NC_000001.11:g.62510670CT[1]
NC_000001.11:g.62510670CT[2]
NC_000002.11:g.(166150646_166152282)_(166198980_166201064)del
NC_000002.11:g.(?_145147018)_(145753167_?)del
NC_000002.11:g.(?_145153959)_(145158894_?)del
NC_000002.11:g.(?_145274825)_(145274988_?)del
NC_000002.11:g.(?_165946660)_(166153665_?)del
NC_000002.11:g.(?_165946660)_(167108415_?)del
NC_000002.11:g.(?_165946660)_(167168266_?)del
NC_000002.11:g.(?_166198786)_(166201441_?)del
NC_000002.11:g.(?_166210682)_(167168266_?)del
NC_000002.11:g.(?_166229715)_(166237727_?)del
NC_000002.11:g.(?_166237082)_(166237727_?)dup
NC_000002.11:g.(?_166237082)_(166246334_?)del
NC_000002.11:g.(?_166237246)_(166237713_?)del
NC_000002.11:g.(?_166237583)_(166246334_?)del
NC_000002.11:g.(?_166237651)_(166240529_?)del
NC_000002.11:g.(?_166605291)_(166868812_?)del
NC_000002.11:g.(?_166731265)_(166856306_?)del
NC_000002.11:g.(?_166737169)_(166915218_?)del
NC_000002.11:g.(?_166802014)_(166850946_?)del
NC_000002.11:g.(?_166847735)_(166852647_?)del
NC_000002.11:g.(?_166847749)_(167060980_?)del
NC_000002.11:g.(?_166847755)_(166872257_?)del
NC_000002.11:g.(?_166847755)_(166898954_?)del
NC_000002.11:g.(?_166852503)_(166856306_?)del
NC_000002.11:g.(?_166852724)_(166856279_?)del
NC_000002.11:g.(?_166854528)_(166854705_?)del
NC_000002.11:g.(?_166858962)_(166859283_?)del
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NC_000002.11:g.(?_166895913)_(167145173_?)del
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NC_000002.11:g.(?_166897758)_(166901790_?)del
NC_000002.11:g.(?_166900200)_166907805del
NC_000002.11:g.(?_166905376)_(166905479_?)del
NC_000002.11:g.(?_166907827)_(166909401_?)del
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NC_000002.11:g.(?_166908209)_(167168266_?)del
NC_000002.11:g.(?_166908336)_(166920943_?)del
NC_000002.11:g.(?_166909342)_(166913030_?)del
NC_000002.11:g.(?_166909397)_(166913500_?)del
NC_000002.11:g.(?_166915060)_(166915218_?)del
NC_000002.11:g.(?_166929848)_(167168266_?)del
NC_000002.11:g.(?_167055172)_(167060984_?)del
NC_000002.11:g.(?_167055182)_(167056394_?)del
NC_000002.11:g.(?_167083057)_(167099186_?)del
NC_000002.11:g.(?_167085181)_(167168266_?)del
NC_000002.11:g.166679228_166818452inv
NC_000002.12:g.(144114719_144303837)_(144566562_144681958)del
NC_000002.12:g.(?_144517258)_(144517420_?)del
NC_000002.12:g.(?_144517278)_(144517419_?)del
NC_000002.12:g.(?_165090130)_(165344931_?)del
NC_000002.12:g.(?_165090130)_(166204484_?)del
NC_000002.12:g.(?_165090130)_(166228992_?)del
NC_000002.12:g.(?_165090130)_(166286643_?)del
NC_000002.12:g.(?_165090130)_(166311776_?)del
NC_000002.12:g.(?_165365123)_(165389844_?)del
NC_000002.12:g.(?_165874735)_(166073641_?)del
NC_000002.12:g.(?_165874735)_(166311776_?)del
NC_000002.12:g.(?_165898666)_(166311776_?)del
NC_000002.12:g.(?_165941007)_(166073641_?)del
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NC_000002.12:g.(?_165991225)_(166041489_?)del
NC_000002.12:g.(?_165991225)_(166048969_?)del
NC_000002.12:g.(?_165991225)_(166073641_?)del
NC_000002.12:g.(?_165991225)_(166311776_?)del
NC_000002.12:g.(?_165995993)_(165998195_?)del
NC_000002.12:g.(?_165995993)_(166073641_?)del
NC_000002.12:g.(?_166009699)_(166015748_?)del
NC_000002.12:g.(?_166042272)_(166044069_?)del
NC_000002.12:g.(?_166052832)_(166053034_?)del
NC_000002.12:g.(?_166073338)_(166073641_?)del
NC_000002.12:g.96197067AAAAT[(n)]/AAATG[(n)]
NC_000003.11:g.(?_10094051)_(11078652_?)del
NC_000003.11:g.(?_11058898)_(11062028_?)del
NC_000003.11:g.(?_11058898)_(11064174_?)del
NC_000003.11:g.(?_11067270)_(11069305_?)del
NC_000003.11:g.(?_11072843)_(11078652_?)del
NC_000003.11:g.(?_49547968)_(50685477_?)del
NC_000003.11:g.(?_50513539)_(50540854_?)del
NC_000003.11:g.(?_9703931)_(11078652_?)del
NC_000003.12:g.11031181dup
NC_000004.11:g.(?_76481293)_(77700330_?)del
NC_000004.12:g.76163382CT[1]
NC_000005.10:g.(?_126575400)_(126575484_?)del
NC_000005.10:g.(?_126582831)_(126584032_?)del
NC_000005.10:g.(?_162066642)_(162156539_?)del
NC_000005.10:g.(?_162067980)_(162068126_?)del
NC_000005.10:g.(?_162101215)_(162104046_?)del
NC_000005.10:g.(?_162101225)_(162153368_?)del
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]
NC_000005.10:g.162097769_162097770insTAACATAGCTACAAAAGATGGGTGAGACAGTAACCTCCTCAGCAAAACTCTAGCTTTCTTTTGAACTATTCAAAGCCAAGATAGCTTTGCTTCATATTGGCAAAGAAAACAGGAATGAAATATACCAATATTTAAAAAGATAATCTTACTGTGTACAAATTTTCTGTTTATCATTTTATTAAAACAGGAATACACTATTGATATATTTTTTGCGCAAACGTGGTATGACAGACGTTTGAAATTTAACAGCACCATTAAAGTCCTCCGATTGAACAGCAACATGGTGGGGAAAATCTGGATTCCAGACACTTTCTTCAGA
NC_000005.9:g.(?_125880657)_(125891727_?)del
NC_000005.9:g.(?_125880657)_(125896836_?)del
NC_000005.9:g.(?_125880657)_(125930890_?)del
NC_000005.9:g.(?_125881996)_(125882111_?)del
NC_000005.9:g.(?_125889959)_(125891727_?)del
NC_000005.9:g.(?_125889959)_(125896836_?)del
NC_000005.9:g.(?_125911092)_(125912923_?)del
NC_000005.9:g.(?_125912751)_(125912923_?)del
NC_000005.9:g.(?_125928336)_(125930890_?)del
NC_000005.9:g.(?_125929344)_(125930707_?)del
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NC_000005.9:g.(?_160721068)_(161528343_?)del
NC_000005.9:g.(?_161128494)_(161580374_?)del
NC_000005.9:g.(?_161277817)_(161580374_?)del
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NC_000005.9:g.(?_161495006)_(161528343_?)del
NC_000005.9:g.(?_161495006)_(161531052_?)del
NC_000005.9:g.(?_161495006)_(161569342_?)del
NC_000005.9:g.(?_161495006)_(161580374_?)del
NC_000005.9:g.(?_161520814)_(161531052_?)del
NC_000005.9:g.(?_161520814)_(161580374_?)del
NC_000005.9:g.(?_161530875)_(161580374_?)del
NC_000005.9:g.(?_161569150)_(161580374_?)del
NC_000006.11:g.(?_105175968)_(105307795_?)del
NC_000006.11:g.(?_145948552)_(145956642_?)del
NC_000006.11:g.(?_146056334)_(146056634_?)del
NC_000006.11:g.(?_18121650)_(18149358_?)del
NC_000006.11:g.(?_33388042)_(33679463_?)del
NC_000006.11:g.(?_33406026)_(33416171_?)del
NC_000006.12:g.(?_145625675)_(145635506_?)del
NC_000006.12:g.(?_145686102)_(145686316_?)del
NC_000006.12:g.(?_33420245)_(33451926_?)del
NC_000006.12:g.(?_33435132)_(33438311_?)del
NC_000006.12:g.104771387TACCTAAAAA[3]
NC_000006.12:g.33432163_33432188del
NC_000007.13:g.(75687397_75689690)_(75696827_?)del
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_103629558)_(103629803_?)del
NC_000007.13:g.(?_2559496)_(2594065_?)del
NC_000007.13:g.(?_2577703)_(2594065_?)del
NC_000007.13:g.(?_2578125)_(2579037_?)del
NC_000007.13:g.(?_2584533)_(2594065_?)del
NC_000007.13:g.(?_2586938)_(2594065_?)del
NC_000007.13:g.(?_66068499)_(66098288_?)del
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.14:g.(?_2538049)_(2539371_?)del
NC_000007.14:g.(?_2544889)_(2554451_?)del
NC_000007.14:g.(?_2554285)_(2554451_?)del
NC_000007.14:g.(?_2554305)_(2554431_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NC_000008.10:g.(?_133141509)_(133492779_?)del
NC_000008.10:g.(?_133141509)_(134296554_?)del
NC_000008.10:g.119379055_119379157TGAAA[100_?]TAAAA[40_?]
NC_000008.10:g.119379055_119379157TGAAA[149]TAAAA[446]
NC_000009.11:g.(130420731_130422308)_(130428576_130430358)del
NC_000009.11:g.(?_111899735)_(111929571_?)del
NC_000009.11:g.(?_111903603)_(111903889_?)del
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130374683)_(130374739_?)del
NC_000009.11:g.(?_130374683)_(130416095_?)del
NC_000009.11:g.(?_130374683)_(131329276_?)del
NC_000009.11:g.(?_130413862)_(130439052_?)del
NC_000009.11:g.(?_130415974)_(130416095_?)del
NC_000009.11:g.(?_130425464)_(130432257_?)del
NC_000009.11:g.(?_130432157)_(130435560_?)del
NC_000009.11:g.(?_130438083)_(130439032_?)del
NC_000009.11:g.(?_130441808)_(130444802_?)del
NC_000009.11:g.(?_130444665)_(130446756_?)del
NC_000009.11:g.(?_130980490)_(130996406_?)del
NC_000009.11:g.(?_131329020)_(131419005_?)del
NC_000009.11:g.(?_131360669)_(131367766_?)del
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000009.12:g.(?_109147031)_(109147209_?)del
NC_000009.12:g.(?_127612384)_(127690877_?)del
NC_000009.12:g.(?_127612384)_(128566997_?)del
NC_000009.12:g.(?_127651583)_(127653816_?)del
NC_000009.12:g.(?_127651583)_(127690877_?)del
NC_000009.12:g.(?_127653695)_(127676773_?)del
NC_000009.12:g.(?_127658355)_(127658471_?)del
NC_000009.12:g.(?_127669878)_(127669978_?)del
NC_000009.12:g.(?_128613381)_(128613485_?)del
NC_000009.12:g.(?_128632127)_(128640939_?)del
NC_000009.12:g.109167267dup rs1285856108
NC_000009.12:g.109167276G>A rs2118524756
NC_000009.12:g.127660030_127660059del rs2131450364
NC_000009.12:g.127669899del rs2131488795
NC_000010.10:g.(?_78998319)_(79163801_?)del
NC_000010.10:g.(?_95517882)_(95537394_?)del
NC_000010.10:g.(?_95517902)_(95518136_?)del
NC_000010.10:g.(?_95517902)_(95518608_?)del
NC_000010.11:g.(93704377_?)_(?_93785620)del
NC_000010.11:g.(?_93161309)_(93797823_?)del
NC_000011.10:g.(?_791895)_(795026_?)del
NC_000012.11:g.(?_13828659)_(13828813_?)del
NC_000012.11:g.(?_13906231)_(13906869_?)del
NC_000012.11:g.(?_7053285)_(9027607_?)del
NC_000012.12:g.(?_12717002)_(13982130_?)del
NC_000012.12:g.(?_51662798)_(51688869_?)del
NC_000012.12:g.(?_51684154)_(51701227_?)del
NC_000014.8:g.(?_29236486)_(29237955_?)del
NC_000014.8:g.(?_94187790)_(94254064_?)del
NC_000014.8:g.(?_94245502)_(94245677_?)del
NC_000014.9:g.(?_28767260)_(28768769_?)del
NC_000015.10:g.(?_25862297)_(26937328_?)del
NC_000015.10:g.(?_26547773)_(26775295_?)del
NC_000015.10:g.(?_26567561)_(26629023_?)del
NC_000015.10:g.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_26107444)_(28230334_?)del
NC_000015.9:g.(?_26792940)_(26828581_?)del
NC_000015.9:g.(?_26792940)_(26866701_?)del
NC_000015.9:g.(?_26792940)_(27018109_?)del
NC_000015.9:g.(?_26792940)_(27020442_?)del
NC_000015.9:g.(?_26866441)_(26866701_?)del
NC_000015.9:g.(?_27017529)_(27018109_?)del
NC_000015.9:g.(?_93444468)_(93536248_?)del
NC_000015.9:g.(?_93444468)_(93583743_?)del
NC_000015.9:g.(?_93485032)_(93515667_?)del
NC_000015.9:g.(?_93489031)_(93489466_?)del
NC_000015.9:g.(?_93514985)_(93518190_?)del
NC_000015.9:g.(?_93521444)_(93522533_?)del
NC_000015.9:g.(?_93528708)_(93528923_?)del
NC_000015.9:g.(?_93552355)_(93567935_?)del
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NC_000016.10:g.(?_130502)_(130611_?)del
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NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.10:g.(?_29813054)_(29813955_?)del
NC_000016.10:g.(?_30992801)_(31068051_?)del
NC_000016.10:g.(?_31000908)_(31001623_?)del
NC_000016.10:g.(?_56328611)_(56343970_?)dup
NC_000016.10:g.(?_578765)_(579200_?)del
NC_000016.10:g.(?_78099759)_(78099909_?)del
NC_000016.10:g.(?_78099759)_(78115174_?)del
NC_000016.10:g.(?_78099759)_(78432772_?)del
NC_000016.10:g.(?_78164163)_(78164309_?)del
NC_000016.10:g.(?_78278583)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78386968_?)del
NC_000016.10:g.(?_78386840)_(78432772_?)del
NC_000016.10:g.(?_78424850)_(78425075_?)del
NC_000016.10:g.(?_78424850)_(78432772_?)del
NC_000016.10:g.(?_79211588)_(79211816_?)del
NC_000016.10:g.(?_89693)_(100529_?)del
NC_000016.10:g.(?_9798257)_(9849981_?)del
NC_000016.10:g.(?_98125)_(100529_?)del
NC_000016.10:g.(?_9829403)_(9829672_?)del
NC_000016.10:g.(?_9849736)_(9849981_?)del
NC_000016.10:g.(?_9890966)_(10180431_?)del
NC_000016.10:g.(?_9890966)_(9891120_?)del
NC_000016.10:g.30996672_31010406del
NC_000016.10:g.78152047_78188346del
NC_000016.10:g.92726del rs2141908063
NC_000016.9:g.(?_10031796)_(10032428_?)del
NC_000016.9:g.(?_10273835)_(10274268_?)del
NC_000016.9:g.(?_10273835)_(10274288_?)del
NC_000016.9:g.(?_10273845)_(10274268_?)del
NC_000016.9:g.(?_135384)_139739del
NC_000016.9:g.(?_136684)_(162794_?)del
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NC_000016.9:g.(?_138677)_(143343_?)del
NC_000016.9:g.(?_138677)_(188286_?)del
NC_000016.9:g.(?_142574)_(150527_?)del
NC_000016.9:g.(?_142584)_(188266_?)del
NC_000016.9:g.(?_143197)_(150527_?)del
NC_000016.9:g.(?_143302)_(152085_?)del
NC_000016.9:g.(?_148123)_(148319_?)del
NC_000016.9:g.(?_148123)_(188286_?)del
NC_000016.9:g.(?_148133)_(188266_?)del
NC_000016.9:g.(?_150360)_(150517_?)del
NC_000016.9:g.(?_160503)_(160624_?)del
NC_000016.9:g.(?_160503)_(162794_?)del
NC_000016.9:g.(?_160503)_(180610_?)del
NC_000016.9:g.(?_160503)_(188266_?)del
NC_000016.9:g.(?_160513)_(180600_?)del
NC_000016.9:g.(?_162601)_(162794_?)del
NC_000016.9:g.(?_162601)_(188266_?)del
NC_000016.9:g.(?_167280)_(169274_?)del
NC_000016.9:g.(?_167280)_(180610_?)del
NC_000016.9:g.(?_167290)_(188266_?)del
NC_000016.9:g.(?_169105)_(188266_?)del
NC_000016.9:g.(?_169105)_(193701_?)del
NC_000016.9:g.(?_169115)_(169264_?)del
NC_000016.9:g.(?_180501)_(188266_?)del
NC_000016.9:g.(?_188129)_(188266_?)del
NC_000016.9:g.(?_188129)_(193701_?)del
NC_000016.9:g.(?_188152)_(189914_?)del
NC_000016.9:g.(?_2546150)_(2550959_?)del
NC_000016.9:g.(?_2550259)_(3154076_?)del
NC_000016.9:g.(?_256302)_(633035_?)del
NC_000016.9:g.(?_30996980)_(31021717_?)del
NC_000016.9:g.(?_56226148)_(56226548_?)del
NC_000016.9:g.(?_56226148)_(58768132_?)del
NC_000016.9:g.(?_56385276)_(56388965_?)del
NC_000016.9:g.(?_622268)_(632290_?)del
NC_000016.9:g.(?_624075)_(633035_?)del
NC_000016.9:g.(?_624589)_(626254_?)del
NC_000016.9:g.(?_78133671)_(78149061_?)del
NC_000016.9:g.(?_78133676)_(78149071_?)del
NC_000016.9:g.(?_78133676)_(79633799_?)del
NC_000016.9:g.(?_78142300)_(78198206_?)del
NC_000016.9:g.(?_78142310)_(78142394_?)del
NC_000016.9:g.(?_78148853)_(78149071_?)del
NC_000016.9:g.(?_78148853)_(78198206_?)del
NC_000016.9:g.(?_78352643)_(78420837_?)dup
NC_000016.9:g.(?_78420737)_(78458972_?)del
NC_000016.9:g.(?_78420737)_(81991603_?)del
NC_000016.9:g.(?_78420747)_(78458962_?)del
NC_000016.9:g.(?_78420747)_(78466659_?)del
NC_000016.9:g.(?_78458747)_(79245693_?)del
NC_000016.9:g.(?_8829597)_(9923529_?)del
NC_000016.9:g.(?_97132)_(143343_?)del
NC_000016.9:g.(?_97132)_(150527_?)del
NC_000016.9:g.(?_97132)_(167394_?)del
NC_000016.9:g.(?_9857006)_(10032428_?)del
NC_000016.9:g.(?_9857006)_(10274268_?)del
NC_000016.9:g.(?_9857006)_(9862956_?)del
NC_000016.9:g.(?_9857006)_(9892341_?)del
NC_000016.9:g.(?_9857612)_(9865030_?)del
NC_000016.9:g.(?_9862688)_(9862966_?)del
NC_000016.9:g.(?_9892114)_(10032428_?)del
NC_000016.9:g.(?_9916101)_(9923529_?)dup
NC_000016.9:g.(?_9916111)_(9916291_?)del
NC_000016.9:g.(?_9934484)_(9934981_?)del
NC_000016.9:g.(?_9984833)_(9984967_?)del
NC_000016.9:g.78179358_78219143delins[78185355_78199419inv]
NC_000017.10:g.(?_44845686)_(45016126_?)del
NC_000017.10:g.(?_46019042)_(46024148_?)del
NC_000017.10:g.(?_61805674)_(61805729_?)del
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6607177)_(6607395_?)del
NC_000017.10:g.(?_6607177)_(6610495_?)del
NC_000017.10:g.(?_6609941)_(6616652_?)del
NC_000017.10:g.(?_6616531)_(6616672_?)del
NC_000017.11:g.(?_46923173)_(46940633_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)del
NC_000017.11:g.63702091_63709394del
NC_000019.10:g.(?_13275830)_(13277148_?)del
NC_000019.10:g.(?_13298534)_(13300666_?)del
NC_000019.10:g.(?_13300530)_(13300676_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NC_000019.10:g.49861932_49861933insTCCCCGCTCCTAGCGTGTCCTGGGGACACGAGAGGTCACAAACAGATCGGCAGACCCAGGGGGAGAGAAG
NC_000019.9:g.(?_12651855)_(13373667_?)del
NC_000019.9:g.(?_12757434)_(13617038_?)del
NC_000019.9:g.(?_13318860)_(13325442_?)del
NC_000019.9:g.(?_13335461)_(13342694_?)del
NC_000019.9:g.(?_13338225)_(13342694_?)del
NC_000019.9:g.(?_13339493)_(13341043_?)del
NC_000019.9:g.(?_13339493)_(13373667_?)del
NC_000019.9:g.(?_13342504)_(13342694_?)del
NC_000019.9:g.(?_13368144)_(13368385_?)del
NC_000019.9:g.(?_13370358)_(13373667_?)del
NC_000019.9:g.(?_13386644)_(13386790_?)del
NC_000019.9:g.(?_13394061)_(13397800_?)del
NC_000019.9:g.(?_13409338)_(13411490_?)del
NC_000019.9:g.(?_13414350)_(13418678_?)del
NC_000019.9:g.(?_13418576)_(13419362_?)del
NC_000019.9:g.(?_13418576)_(13423615_?)del
NC_000019.9:g.(?_13427906)_(13617038_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)del
NC_000019.9:g.(?_13470400)_(13482613_?)del
NC_000019.9:g.(?_13476111)_(13476303_?)del
NC_000019.9:g.(?_13563670)_(13574132_?)del
NC_000019.9:g.(?_50331686)_(50367680_?)del
NC_000019.9:g.(?_50364485)_(50370481_?)del
NC_000019.9:g.(?_50366993)_(50370363_?)del
NC_000020.10:g.(3194705_3195926)_(3195959_3199162)del
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NC_000020.10:g.(?_61471874)_(62078210_?)del
NC_000020.10:g.(?_61952107)_62044936del
NC_000020.10:g.(?_61977556)_(62039909_?)del
NC_000020.10:g.(?_61977556)_(62065276_?)del
NC_000020.10:g.(?_61977556)_(62078210_?)del
NC_000020.10:g.(?_61977556)_(62103836_?)del
NC_000020.10:g.(?_61977556)_(62129136_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)del
NC_000020.10:g.(?_61977556)_(62562941_?)del
NC_000020.10:g.(?_61978090)_(62039909_?)del
NC_000020.10:g.(?_61978090)_(62055579_?)del
NC_000020.10:g.(?_61978090)_(62062742_?)del
NC_000020.10:g.(?_61978090)_(62076207_?)del
NC_000020.10:g.(?_61978090)_(62324656_?)del
NC_000020.10:g.(?_61978090)_(62562921_?)del
NC_000020.10:g.(?_61987717)_(62038734_?)del
NC_000020.10:g.(?_61992422)_(62038748_?)del
NC_000020.10:g.(?_62001629)_(62038624_?)del
NC_000020.10:g.(?_62027832)_(62045449_?)del
NC_000020.10:g.(?_62027833)_(62045450_?)del
NC_000020.10:g.(?_62030796)_(62038482_?)del
NC_000020.10:g.(?_62033334)_(62046267_?)del
NC_000020.10:g.(?_62037977)_(62051045_?)del
NC_000020.10:g.(?_62037997)_(62046489_?)del
NC_000020.10:g.(?_62037997)_(62051045_?)del
NC_000020.10:g.(?_62037997)_(62059808_?)del
NC_000020.10:g.(?_62037997)_(62071081_?)del
NC_000020.10:g.(?_62038255)_(62077133_?)del
NC_000020.10:g.(?_62038508)_(62044760_?)del
NC_000020.10:g.(?_62044566)_(62046452_?)del
NC_000020.10:g.(?_62044783)_(62045566_?)del
NC_000020.10:g.(?_62044783)_(62065276_?)del
NC_000020.10:g.(?_62044783)_(62078210_?)del
NC_000020.10:g.(?_62044783)_(62159505_?)del
NC_000020.10:g.(?_62044793)_(62044944_?)del
NC_000020.10:g.(?_62045421)_(62103816_?)del
NC_000020.10:g.(?_62046246)_(62055569_?)del
NC_000020.10:g.(?_62050952)_(62059808_?)del
NC_000020.10:g.(?_62050952)_(62065276_?)del
NC_000020.10:g.(?_62055510)_(62078210_?)del
NC_000020.10:g.(?_62059700)_(62071081_?)del
NC_000020.10:g.(?_62059700)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62078210_?)del
NC_000020.10:g.(?_62062673)_(62103816_?)del
NC_000020.10:g.(?_62062702)_(62068213_?)del
NC_000020.10:g.(?_62065142)_(62076737_?)del
NC_000020.10:g.(?_62069958)_(62129116_?)del
NC_000020.10:g.(?_62069968)_(62078200_?)del
NC_000020.10:g.(?_62070931)_(62076207_?)del
NC_000020.10:g.(?_62070931)_(62076737_?)del
NC_000020.10:g.(?_62073739)_(62073904_?)del
NC_000020.10:g.(?_62073739)_(62078210_?)del
NC_000020.10:g.(?_62075992)_(62078210_?)del
NC_000020.10:g.(?_62075992)_(62324656_?)del
NC_000020.10:g.(?_62076002)_(62324646_?)del
NC_000020.10:g.(?_62076571)_(62078210_?)del
NC_000020.10:g.(?_62078080)_(62078210_?)del
NC_000020.10:g.(?_62081939)_62119720del
NC_000020.10:g.(?_62103511)_(62120515_?)del
NC_000020.10:g.(?_7812350)_(10654278_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)del
NC_000020.10:g.(?_8113299)_(8352117_?)del
NC_000020.10:g.(?_8608931)_(8639361_?)del
NC_000020.10:g.(?_8639165)_(8698515_?)del
NC_000020.10:g.(?_8696891)_(8698515_?)del
NC_000020.11:g.(?_46021746)_(46057625_?)del
NC_000020.11:g.(?_46045858)_(46046456_?)del
NC_000020.11:g.(?_63406624)_(63439728_?)del
NC_000020.11:g.(?_63406624)_(63472483_?)del
NC_000020.11:g.(?_63406624)_(63528152_?)del
NC_000020.11:g.(?_63413450)_(63415126_?)del
NC_000020.11:g.(?_63419599)_(63439728_?)del
NC_000020.11:g.(?_63428347)_(63433923_?)del
NC_000020.11:g.(?_63428347)_(63497783_?)del
NC_000020.11:g.(?_63431320)_(63433923_?)del
NC_000020.11:g.(?_63433725)_(63433923_?)del
NC_000020.11:g.(?_63438605)_(63446857_?)del
NC_000020.11:g.(?_63444639)_(63528152_?)del
NC_000020.11:g.(?_63472148)_(63497783_?)del
NC_000020.11:g.(?_63472148)_(63528152_?)del
NC_000021.8:g.(?_34011198)_(34100351_?)del
NC_000021.8:g.(?_34072128)_(34074377_?)del
NC_000021.8:g.(?_43160998)_(47754702_?)del
NC_000021.8:g.(?_44473990)_(45629566_?)del
NC_000021.8:g.(?_44836602)_(45629566_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)del
NC_000021.8:g.(?_45194083)_(45196150_?)del
NC_000021.9:g.(?_32727926)_(32728060_?)del
NC_000021.9:g.32728017C>T rs1569147057
NC_000022.10:g.(?_32044067)_(32188823_?)del
NC_000022.10:g.(?_32058110)_(32302483_?)del
NC_000022.10:g.(?_32150888)_(32162674_?)del
NC_000022.10:g.(?_32150888)_(32164869_?)del
NC_000022.10:g.(?_32150888)_(32188823_?)del
NC_000022.10:g.(?_32150908)_(32150985_?)del
NC_000022.10:g.(?_32150908)_(32154639_?)del
NC_000022.10:g.(?_32150908)_(32156708_?)del
NC_000022.10:g.(?_32150908)_(32164869_?)del
NC_000022.10:g.(?_32150908)_(32174174_?)del
NC_000022.10:g.(?_32150908)_(32193709_?)del
NC_000022.10:g.(?_32150908)_(32211218_?)del
NC_000022.10:g.(?_32150908)_(32293659_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32161066_?)del
NC_000022.10:g.(?_32164780)_(32164869_?)del
NC_000022.10:g.(?_32174065)_(32174174_?)del
NC_000022.10:g.(?_32174065)_(32180881_?)del
NC_000022.10:g.(?_32179873)_(32179991_?)del
NC_000022.10:g.(?_32179873)_(32180881_?)del
NC_000022.10:g.(?_32179873)_(32193709_?)del
NC_000022.10:g.(?_32180780)_(32302503_?)del
NC_000022.10:g.(?_32187999)_(32188823_?)del
NC_000022.10:g.(?_32188019)_(32194642_?)del
NC_000022.10:g.(?_32188404)_(32191244_?)del
NC_000022.10:g.(?_32193566)_(32194662_?)del
NC_000022.10:g.(?_32193566)_(32202197_?)del
NC_000022.10:g.(?_32198670)_(32202197_?)del
NC_000022.10:g.(?_32200808)_(32242973_?)del
NC_000022.10:g.(?_32202088)_(32202197_?)del
NC_000022.10:g.(?_32205577)_(32206647_?)del
NC_000022.10:g.(?_32229881)_(32257439_?)del
NC_000022.10:g.(?_32234651)_(32234851_?)del
NC_000022.10:g.(?_32239061)_(32239818_?)del
NC_000022.10:g.(?_32239061)_(32241243_?)del
NC_000022.10:g.(?_32253411)_(32253559_?)del
NC_000022.10:g.(?_32275491)_(32289757_?)del
NC_000022.10:g.(?_32301950)_(32302483_?)del
NC_000022.10:g.(?_32301960)_(32302483_?)del
NC_000022.11:g.(?_31754902)_(31784895_?)del
NC_000022.11:g.(?_31754902)_(31815232_?)del
NC_000022.11:g.(?_31754902)_(31815449_?)del
NC_000022.11:g.(?_31754902)_(31906517_?)del
NC_000022.11:g.(?_31758526)_(31758653_?)del
NC_000022.11:g.(?_31760636)_(31760722_?)del
NC_000022.11:g.(?_31764955)_(31766688_?)del
NC_000022.11:g.(?_31764955)_(31768883_?)dup
NC_000022.11:g.(?_31792013)_(31792122_?)del
NC_000022.11:g.(?_31804142)_(31810661_?)del
NC_000022.11:g.(?_31809591)_(31815232_?)del
NC_000022.11:g.31804164_31804174dup
NC_000023.10:g.(?_14861689)_(15870650_?)del
NC_000023.10:g.(?_152482081)_(153416424_?)del
NC_000023.10:g.(?_152954010)_(153363142_?)dup
NC_000023.10:g.(?_152954010)_(153599633_?)dup
NC_000023.10:g.(?_153128098)_(153363142_?)dup
NC_000023.10:g.(?_153128098)_(153599633_?)dup
NC_000023.10:g.(?_153128118)_(153416424_?)dup
NC_000023.10:g.(?_153128823)_(153416424_?)dup
NC_000023.10:g.(?_153137587)_(153363142_?)dup
NC_000023.10:g.(?_153170600)_(153409869_?)dup
NC_000023.10:g.(?_153184286)_(153409869_?)dup
NC_000023.10:g.(?_153195397)_(153642547_?)dup
NC_000023.10:g.(?_153277310)_(153298028_?)del
NC_000023.10:g.(?_153279389)_(153296228_?)del
NC_000023.10:g.(?_153285725)_(153296182_?)del
NC_000023.10:g.(?_153288018)_(153296120_?)del
NC_000023.10:g.(?_153292262)_(153297628_?)del
NC_000023.10:g.(?_153292375)_(153296122_?)del
NC_000023.10:g.(?_153292923)_(153296117_?)del
NC_000023.10:g.(?_153294907)_(153296120_?)del
NC_000023.10:g.(?_153294955)_(153296040_?)del
NC_000023.10:g.(?_153295063)_(153296130_?)del
NC_000023.10:g.(?_153295250)_(153296129_?)del
NC_000023.10:g.(?_153295412)_(153306710_?)del
NC_000023.10:g.(?_153295424)_(153296139_?)del
NC_000023.10:g.(?_153295526)_(153296087_?)del
NC_000023.10:g.(?_153295580)_(153296752_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295726)_(153363142_?)dup
NC_000023.10:g.(?_153295726)_(153596478_?)dup
NC_000023.10:g.(?_153295726)_(153599633_?)dup
NC_000023.10:g.(?_153295726)_(153786885_?)dup
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153295885)_(153296418_?)del
NC_000023.10:g.(?_153295985)_(153299903_?)del
NC_000023.10:g.(?_153296038)_(153299936_?)del
NC_000023.10:g.(?_153296083)_(153297178_?)del
NC_000023.10:g.(?_153296084)_(153300925_?)del
NC_000023.10:g.(?_153296084)_(153338974_?)del
NC_000023.10:g.(?_153296086)_(153297264_?)del
NC_000023.10:g.(?_153296091)_(153303781_?)del
NC_000023.10:g.(?_153296093)_(153303797_?)del
NC_000023.10:g.(?_153296108)_(153301856_?)del
NC_000023.10:g.(?_153296109)_(153297633_?)del
NC_000023.10:g.(?_153296109)_(153302497_?)del
NC_000023.10:g.(?_153296112)_(153302496_?)del
NC_000023.10:g.(?_153296119)_(153305088_?)del
NC_000023.10:g.(?_153296136)_(153302300_?)del
NC_000023.10:g.(?_153296141)_(153303786_?)del
NC_000023.10:g.(?_153296154)_153302832del
NC_000023.10:g.(?_153296180)_(153302766_?)del
NC_000023.10:g.(?_153296231)_(153303837_?)del
NC_000023.10:g.(?_153296339)_(153306264_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153357622)_(153363142_?)del
NC_000023.10:g.(?_153357632)_(153363122_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_17393881)_(18525300_?)del
NC_000023.10:g.(?_17393881)_(20284750_?)del
NC_000023.10:g.(?_18525053)_(18525300_?)del
NC_000023.10:g.(?_18525053)_(18613568_?)del
NC_000023.10:g.(?_18525053)_(18622998_?)del
NC_000023.10:g.(?_18525053)_(18662765_?)del
NC_000023.10:g.(?_18525211)_(18528980_?)dup
NC_000023.10:g.(?_18534398)_(18600033_?)del
NC_000023.10:g.(?_18582577)_(18598108_?)del
NC_000023.10:g.(?_18582577)_(18646727_?)del
NC_000023.10:g.(?_18582587)_(18627700_?)dup
NC_000023.10:g.(?_18582587)_(18690188_?)del
NC_000023.10:g.(?_18593454)_(18598108_?)del
NC_000023.10:g.(?_18593454)_(18690188_?)del
NC_000023.10:g.(?_18626911)_(18643387_?)del
NC_000023.10:g.(?_24483573)_(25033854_?)del
NC_000023.10:g.(?_46466387)_(47489243_?)del
NC_000023.10:g.(?_62857908)_(62863948_?)del
NC_000023.10:g.(?_62875354)_(62875637_?)del
NC_000023.10:g.(?_99551255)_(99905882_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.(?_99551275)_(100099087_?)del
NC_000023.10:g.(?_99551275)_(99605722_?)del
NC_000023.10:g.(?_99596881)_(99597093_?)del
NC_000023.10:g.(?_99596881)_(99663595_?)del
NC_000023.10:g.(?_99596891)_(99597083_?)del
NC_000023.10:g.(?_99605624)_(99605722_?)del
NC_000023.10:g.(?_99654182)_(99661939_?)del
NC_000023.10:g.(?_99657775)_(99662816_?)del
NC_000023.10:g.(?_99661873)_(99700255_?)del
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.152277607_152451201dup
NC_000023.11:g.18419574_18504791del
NC_000023.11:g.18598477_18598478insTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTACTGAAGTTGG
NC_000023.11:g.18619867del
NC_012920.1(MT-CYB):m.611G>A rs118203886
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-TI):m.4284G>A rs121434468
NC_012920.1(MT-TI):m.4296G>A rs1603219393
NC_012920.1(MT-TI):m.4300A>G rs121434470
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TK):m.8356T>C rs118192099
NC_012920.1(MT-TK):m.8361G>A rs118192104
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3256C>T rs199474659
NC_012920.1(MT-TL1):m.3271T>C rs199474658
NC_012920.1(MT-TP):m.16002T>C rs1603225633
NC_012920.1(MT-TR):m.10407G>A
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]
NM_000100.4(CSTB):c.121del (p.Val41fs) rs1257171692
NM_000100.4(CSTB):c.145del (p.Ala49fs)
NM_000100.4(CSTB):c.200_203dup (p.Val69fs) rs1601855887
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.4(CSTB):c.218_219del (p.Leu73fs) rs796943858
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)
NM_000702.4(ATP1A2):c.1022G>T (p.Cys341Phe) rs1057521630
NM_000702.4(ATP1A2):c.1097G>C (p.Gly366Ala) rs1057518514
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.36dup (p.Ala13fs)
NM_000721.4(CACNA1E):c.6529C>T (p.Gln2177Ter)
NM_000722.4(CACNA2D1):c.13_23dup (p.Leu9fs)
NM_000722.4(CACNA2D1):c.626G>A (p.Gly209Asp)
NM_000722.4(CACNA2D1):c.818_821dup (p.Ser275fs)
NM_000726.5(CACNB4):c.610del (p.Gln204fs) rs1057518688
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000742.4(CHRNA2):c.889A>T (p.Ile297Phe) rs1554514507
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_000746.6(CHRNA7):c.241-1G>A rs1566846736
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His) rs1560442716
NM_000807.4(GABRA2):c.788T>C (p.Met263Thr) rs1577975808
NM_000807.4(GABRA2):c.855del (p.Phe285fs) rs2109626303
NM_000807.4(GABRA2):c.871C>G (p.Leu291Val) rs1281490675
NM_000807.4(GABRA2):c.875C>A (p.Thr292Lys) rs1577800481
NM_000807.4(GABRA2):c.881C>T (p.Thr294Ile)
NM_000807.4(GABRA2):c.975C>A (p.Phe325Leu) rs1243977956
NM_000807.4(GABRA2):c.988_989insTTATG (p.Glu330fs)
NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys) rs1936960785
NM_000808.4(GABRA3):c.497C>T (p.Thr166Met)
NM_000808.4(GABRA3):c.725A>T (p.Gln242Leu)
NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe) rs1595441329
NM_000810.4(GABRA5):c.880G>C (p.Val294Leu) rs1595438243
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe) rs1595438243
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met) rs1595438268
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) rs886039817
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) rs1728474004
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000814.6(GABRB3):c.1054del (p.Asp352fs) rs1889959221
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
NM_000814.6(GABRB3):c.172+1del rs1891185645
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
NM_000814.6(GABRB3):c.238A>G (p.Met80Val)
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser) rs2140537271
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) rs942355738
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn) rs886037938
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe) rs1057519550
NM_000814.6(GABRB3):c.374del (p.Asn125fs) rs2140536988
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) rs1057519201
NM_000814.6(GABRB3):c.405_406del (p.Val136fs) rs2140536878
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) rs1892476410
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met) rs2140737885
NM_000814.6(GABRB3):c.47del (p.Pro16fs)
NM_000814.6(GABRB3):c.487A>G (p.Met163Val) rs1060502666
NM_000814.6(GABRB3):c.499A>T (p.Arg167Ter)
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) rs1060502665
NM_000814.6(GABRB3):c.545A>T (p.Tyr182Phe) rs886037939
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile) rs1131691481
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) rs1555368345
NM_000814.6(GABRB3):c.675C>G (p.Phe225Leu) rs201004195
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) rs797045045
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
NM_000814.6(GABRB3):c.745C>A (p.Gln249Lys) rs886037940
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) rs1890229008
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe) rs1057519549
NM_000814.6(GABRB3):c.76C>T (p.Gln26Ter)
NM_000814.6(GABRB3):c.794dup (p.Trp266fs)
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile) rs1595440448
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile) rs1555401440
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) rs1889966424
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000814.6(GABRB3):c.913G>A (p.Ala305Thr) rs886037941
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg) rs746425161
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
NM_000817.3(GAD1):c.1119+1G>A rs2105801986
NM_000817.3(GAD1):c.1414-1G>C rs1702866781
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys) rs1381723796
NM_000817.3(GAD1):c.1591C>T (p.Arg531Ter) rs745595462
NM_000817.3(GAD1):c.1691A>G (p.Asn564Ser) rs1161418050
NM_000817.3(GAD1):c.639-1445del rs2105795792
NM_000817.3(GAD1):c.692AGA[1] (p.Lys232del) rs1702579715
NM_000817.3(GAD1):c.812_816del (p.Val271fs) rs1702611329
NM_000817.3(GAD1):c.865C>T (p.Gln289Ter) rs1181224255
NM_000817.3(GAD1):c.87C>G (p.Tyr29Ter) rs774772554
NM_000834.5(GRIN2B):c.1011-1G>C
NM_000834.5(GRIN2B):c.1223T>C (p.Ile408Thr)
NM_000834.5(GRIN2B):c.1345G>T (p.Glu449Ter) rs1555112186
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser) rs886041295
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_000834.5(GRIN2B):c.1577del (p.Ser526fs)
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp) rs1060499659
NM_000834.5(GRIN2B):c.1621A>G (p.Ser541Gly)
NM_000834.5(GRIN2B):c.1623C>A (p.Ser541Arg)
NM_000834.5(GRIN2B):c.1628G>A (p.Gly543Glu) rs2136479365
NM_000834.5(GRIN2B):c.1664G>A (p.Ser555Asn) rs1949369220
NM_000834.5(GRIN2B):c.1664G>C (p.Ser555Thr)
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg) rs1949368959
NM_000834.5(GRIN2B):c.1821G>A (p.Trp607Ter) rs1057518700
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val) rs1555110843
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile) rs672601377
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly) rs672601376
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro) rs2136470302
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly) rs876661041
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr) rs876661151
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His) rs886041095
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_000834.5(GRIN2B):c.2056G>A (p.Val686Met) rs2136415913
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His) rs1555103971
NM_000834.5(GRIN2B):c.2150C>T (p.Ala717Val) rs2136415648
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr) rs1555103652
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.5(GRIN2B):c.2344C>T (p.Gln782Ter)
NM_000834.5(GRIN2B):c.2352_2359+2dup
NM_000834.5(GRIN2B):c.2368G>T (p.Glu790Ter)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2410G>A (p.Glu804Lys) rs1555103172
NM_000834.5(GRIN2B):c.2434C>T (p.Gln812Ter) rs1555103165
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val) rs1948652423
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr) rs879254016
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr) rs1948652117
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu) rs797044849
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000834.5(GRIN2B):c.2480C>A (p.Ala827Glu) rs748075089
NM_000834.5(GRIN2B):c.2514C>A (p.Cys838Ter)
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2755C>T (p.Gln919Ter) rs1555102548
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His) rs876661167
NM_000834.5(GRIN2B):c.3558del (p.Lys1186fs)
NM_000834.5(GRIN2B):c.3789_3837dup (p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer) rs2136403635
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe) rs2147452753
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000836.4(GRIN2D):c.2024C>T (p.Ala675Val) rs1600982197
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile) rs1569065861
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg) rs1569065866
NM_000944.5(PPP3CA):c.1251_1252del (p.Ser417fs)
NM_000944.5(PPP3CA):c.1290dup (p.Met431fs) rs1560570541
NM_000944.5(PPP3CA):c.1299dup (p.Ser434fs) rs2110205188
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) rs1553920379
NM_000944.5(PPP3CA):c.1308_1312dup (p.Ser438fs)
NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs) rs1578388765
NM_000944.5(PPP3CA):c.1333C>T (p.Gln445Ter) rs1553920376
NM_000944.5(PPP3CA):c.1339G>A (p.Ala447Thr) rs1553920374
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg) rs1553925558
NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser) rs1334933549
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
NM_001003787.4(STRADA):c.101del (p.Pro34fs)
NM_001003787.4(STRADA):c.156del (p.Phe53fs)
NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile) rs56271007
NM_001003787.4(STRADA):c.190C>T (p.Pro64Ser) rs55695051
NM_001003787.4(STRADA):c.207C>G (p.Tyr69Ter)
NM_001003787.4(STRADA):c.254_255del (p.Val85fs) rs767297496
NM_001003787.4(STRADA):c.403G>A (p.Ala135Thr) rs1555699052
NM_001003787.4(STRADA):c.491del (p.Met164fs) rs2143849443
NM_001003787.4(STRADA):c.526del (p.Leu176fs)
NM_001003787.4(STRADA):c.54del (p.Lys18fs)
NM_001003787.4(STRADA):c.630C>G (p.Tyr210Ter)
NM_001003787.4(STRADA):c.751C>T (p.Gln251Ter)
NM_001003787.4(STRADA):c.792T>A (p.Ser264Arg) rs1057519011
NM_001003787.4(STRADA):c.828_853del (p.Val277fs)
NM_001003787.4(STRADA):c.842dup (p.Asp281fs) rs886037929
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser) rs1085307916
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_001032221.6(STXBP1):c.1011C>G (p.Tyr337Ter)
NM_001032221.6(STXBP1):c.1018G>T (p.Glu340Ter)
NM_001032221.6(STXBP1):c.1028del (p.Lys343fs) rs1841566644
NM_001032221.6(STXBP1):c.1029+1G>A rs727504173
NM_001032221.6(STXBP1):c.1029+1G>C rs727504173
NM_001032221.6(STXBP1):c.1029+1G>T rs727504173
NM_001032221.6(STXBP1):c.1030-2A>G
NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) rs1841611480
NM_001032221.6(STXBP1):c.103C>T (p.Gln35Ter)
NM_001032221.6(STXBP1):c.103_119del (p.Gln35fs)
NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg) rs886041337
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr) rs796053365
NM_001032221.6(STXBP1):c.1067dup (p.His357fs)
NM_001032221.6(STXBP1):c.1074C>G (p.Tyr358Ter)
NM_001032221.6(STXBP1):c.1092dup (p.Leu365fs) rs1841615616
NM_001032221.6(STXBP1):c.1095_1096del (p.Cys366fs) rs1057518154
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter) rs2131501460
NM_001032221.6(STXBP1):c.1110+2T>G
NM_001032221.6(STXBP1):c.1111-2A>G rs1554778417
NM_001032221.6(STXBP1):c.1153dup (p.Asp385fs) rs1841723344
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys) rs796053367
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del) rs2131510168
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg) rs2132444527
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) rs1588339898
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg) rs2131510237
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro) rs886041668
NM_001032221.6(STXBP1):c.1258G>T (p.Glu420Ter) rs1841766225
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) rs1588341629
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro) rs886039435
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter) rs2131513223
NM_001032221.6(STXBP1):c.1305_1312dup (p.Glu438fs)
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)
NM_001032221.6(STXBP1):c.1354dup (p.Thr452fs)
NM_001032221.6(STXBP1):c.1359+1G>A rs796053370
NM_001032221.6(STXBP1):c.1359+3A>C rs2131513660
NM_001032221.6(STXBP1):c.1359+5G>A rs2131513670
NM_001032221.6(STXBP1):c.1359_1360insC (p.Ser454fs) rs2131521530
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs) rs1554778657
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) rs1554778657
NM_001032221.6(STXBP1):c.1392del (p.Lys465fs) rs2131521957
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1434G>A (p.Trp478Ter) rs1060501722
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_001032221.6(STXBP1):c.1454T>C (p.Ile485Thr)
NM_001032221.6(STXBP1):c.1457T>C (p.Met486Thr)
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs) rs2132444703
NM_001032221.6(STXBP1):c.1461+1G>A
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1481_1487del (p.Leu494fs)
NM_001032221.6(STXBP1):c.148_149del (p.Ile50fs)
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001032221.6(STXBP1):c.1495_1496dup (p.Pro500fs)
NM_001032221.6(STXBP1):c.1503T>A (p.Tyr501Ter) rs1841946692
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089
NM_001032221.6(STXBP1):c.1557T>G (p.Tyr519Ter)
NM_001032221.6(STXBP1):c.1568_1569insAGTACCCA (p.His523fs)
NM_001032221.6(STXBP1):c.1569_1570del (p.His523fs) rs1554778928
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter) rs1842039791
NM_001032221.6(STXBP1):c.1574del (p.Asn525fs) rs1842039949
NM_001032221.6(STXBP1):c.157G>T (p.Glu53Ter) rs749965674
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) rs756998073
NM_001032221.6(STXBP1):c.1593C>G (p.Tyr531Ter)
NM_001032221.6(STXBP1):c.1597del (p.Ser533fs) rs1554778930
NM_001032221.6(STXBP1):c.1606del (p.Arg536fs) rs1842042825
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg) rs2131535795
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) rs1842044505
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1641_1642insC (p.Asn548fs) rs2131535952
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu) rs796053374
NM_001032221.6(STXBP1):c.1654T>C (p.Cys552Arg) rs1842046459
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter) rs942940725
NM_001032221.6(STXBP1):c.1672C>T (p.Gln558Ter) rs796053376
NM_001032221.6(STXBP1):c.1672del (p.Gln558fs)
NM_001032221.6(STXBP1):c.1672delinsAACGGAAAGTGGGAGGTGGGAGG (p.Gln558fs) rs2131536257
NM_001032221.6(STXBP1):c.169+1G>A rs587776641
NM_001032221.6(STXBP1):c.170-1G>C rs112002192
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1702+1G>A rs796053377
NM_001032221.6(STXBP1):c.1702+2T>C
NM_001032221.6(STXBP1):c.1702+2T>G
NM_001032221.6(STXBP1):c.1702G>C (p.Gly568Arg)
NM_001032221.6(STXBP1):c.175G>A (p.Glu59Lys) rs2132460743
NM_001032221.6(STXBP1):c.223T>C (p.Tyr75His)
NM_001032221.6(STXBP1):c.225T>G (p.Tyr75Ter) rs2132461012
NM_001032221.6(STXBP1):c.22_32dup (p.Glu12fs) rs1564333757
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu) rs1588302912
NM_001032221.6(STXBP1):c.236del (p.Pro79fs)
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) rs1461664423
NM_001032221.6(STXBP1):c.246+2_325+14del
NM_001032221.6(STXBP1):c.247-1G>A rs1840967817
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs) rs2132275633
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.265del (p.Ser89fs) rs1060501723
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His) rs1840970680
NM_001032221.6(STXBP1):c.298del (p.Arg100fs) rs1554776842
NM_001032221.6(STXBP1):c.2T>G (p.Met1Arg)
NM_001032221.6(STXBP1):c.323_325+1del rs2131451053
NM_001032221.6(STXBP1):c.325+1G>A
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001032221.6(STXBP1):c.325+4A>T rs2131451091
NM_001032221.6(STXBP1):c.325+5G>A
NM_001032221.6(STXBP1):c.326-1G>T rs1554776948
NM_001032221.6(STXBP1):c.345del (p.Phe115fs) rs1564349850
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.37+1G>A rs2132275717
NM_001032221.6(STXBP1):c.37+1G>C rs2132275717
NM_001032221.6(STXBP1):c.37+1_37+2delinsA
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) rs1841026473
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.388_389del (p.Leu130fs) rs796053390
NM_001032221.6(STXBP1):c.416C>A (p.Pro139Gln) rs796053353
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.429+1G>A
NM_001032221.6(STXBP1):c.429G>A (p.Gln143=) rs1841030849
NM_001032221.6(STXBP1):c.430-1G>A rs796053354
NM_001032221.6(STXBP1):c.457_458del (p.Phe153fs)
NM_001032221.6(STXBP1):c.463del (p.Ser155fs) rs1841133653
NM_001032221.6(STXBP1):c.478del (p.His160fs)
NM_001032221.6(STXBP1):c.520del (p.Glu174fs) rs2131462829
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.578+1G>A rs796053357
NM_001032221.6(STXBP1):c.578G>C (p.Gly193Ala) rs1588313568
NM_001032221.6(STXBP1):c.578G>T (p.Gly193Val) rs1588313568
NM_001032221.6(STXBP1):c.579-1G>A rs1588317190
NM_001032221.6(STXBP1):c.579-1G>C
NM_001032221.6(STXBP1):c.607C>T (p.Gln203Ter) rs1564351103
NM_001032221.6(STXBP1):c.614_615del (p.Ile205fs)
NM_001032221.6(STXBP1):c.636T>A (p.Tyr212Ter) rs1841238690
NM_001032221.6(STXBP1):c.636T>G (p.Tyr212Ter) rs1841238690
NM_001032221.6(STXBP1):c.661del (p.Glu221fs) rs1841239642
NM_001032221.6(STXBP1):c.663+1G>A rs1841240415
NM_001032221.6(STXBP1):c.663+1G>C rs1841240415
NM_001032221.6(STXBP1):c.663+2T>C
NM_001032221.6(STXBP1):c.663+5G>A rs2131469592
NM_001032221.6(STXBP1):c.664-1G>C rs1554777464
NM_001032221.6(STXBP1):c.685C>T (p.Gln229Ter) rs1554777470
NM_001032221.6(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly) rs796053359
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_001032221.6(STXBP1):c.733C>A (p.His245Asn) rs1554777480
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001032221.6(STXBP1):c.749A>G (p.Gln250Arg)
NM_001032221.6(STXBP1):c.751G>C (p.Ala251Pro)
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_001032221.6(STXBP1):c.755T>C (p.Met252Thr) rs1841289209
NM_001032221.6(STXBP1):c.78_79dup (p.Glu27fs)
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.794+5G>A rs1057520631
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.795-2A>C rs2131481227
NM_001032221.6(STXBP1):c.798T>G (p.Tyr266Ter) rs751170778
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_001032221.6(STXBP1):c.817G>T (p.Glu273Ter) rs1564352002
NM_001032221.6(STXBP1):c.830_831delinsC (p.Lys277fs)
NM_001032221.6(STXBP1):c.842T>C (p.Leu281Pro) rs2131481488
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001032221.6(STXBP1):c.84dup (p.Lys29fs)
NM_001032221.6(STXBP1):c.87+2T>C rs1554775960
NM_001032221.6(STXBP1):c.87+5G>A
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001032221.6(STXBP1):c.875G>C (p.Arg292Pro) rs796053361
NM_001032221.6(STXBP1):c.88-1G>A
NM_001032221.6(STXBP1):c.898del (p.Ser300fs) rs2131481907
NM_001032221.6(STXBP1):c.902+1G>A rs886041978
NM_001032221.6(STXBP1):c.902+1G>C rs886041978
NM_001032221.6(STXBP1):c.903-2A>G
NM_001032221.6(STXBP1):c.903-69_905del
NM_001032221.6(STXBP1):c.910_917del (p.Thr304fs)
NM_001032221.6(STXBP1):c.912_915del (p.Arg305fs)
NM_001032221.6(STXBP1):c.920_921del (p.Leu307fs) rs2131488963
NM_001032221.6(STXBP1):c.963+2T>C
NM_001032221.6(STXBP1):c.969del (p.Met324fs)
NM_001032221.6(STXBP1):c.971del (p.Met324fs) rs2131497207
NM_001032221.6(STXBP1):c.980dup (p.Ser328fs) rs2131497242
NM_001032221.6(STXBP1):c.989dup (p.Met330fs) rs1841564743
NM_001033044.4(GLUL):c.-13-1G>A
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) rs1131691970
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu) rs1131691970
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001037.5(SCN1B):c.208-2A>C rs724159982
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.316A>T (p.Ile106Phe) rs931949929
NM_001037.5(SCN1B):c.355T>G (p.Tyr119Asp) rs1600364712
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro) rs1760440801
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met) rs369858004
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys) rs1760957806
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His) rs1581069143
NM_001037333.3(CYFIP2):c.2099A>G (p.Gln700Arg) rs1761161860
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)
NM_001037333.3(CYFIP2):c.3594+1G>T rs1767193145
NM_001037343.2(CDKL5):c.3034del (p.Gln1012fs)
NM_001039476.1(NPRL3):c.931=
NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs) rs1697464755
NM_001040142.2(SCN2A):c.1028A>G (p.Asp343Gly) rs1057524164
NM_001040142.2(SCN2A):c.1030del (p.Ala344fs)
NM_001040142.2(SCN2A):c.1036C>T (p.Gln346Ter) rs201798537
NM_001040142.2(SCN2A):c.1078C>T (p.Pro360Ser) rs1574566768
NM_001040142.2(SCN2A):c.1086T>A (p.Tyr362Ter)
NM_001040142.2(SCN2A):c.1108T>C (p.Phe370Leu) rs796053177
NM_001040142.2(SCN2A):c.1128_1130del (p.Leu377del) rs2105255370
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) rs796053178
NM_001040142.2(SCN2A):c.1147C>T (p.Gln383Ter) rs796053178
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs) rs879253767
NM_001040142.2(SCN2A):c.1175del (p.Leu392fs)
NM_001040142.2(SCN2A):c.1184G>A (p.Arg395His)
NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) rs1553568927
NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter) rs1553564144
NM_001040142.2(SCN2A):c.122del (p.Arg41fs)
NM_001040142.2(SCN2A):c.1242C>G (p.Phe414Leu) rs2105255869
NM_001040142.2(SCN2A):c.1253A>T (p.Asn418Ile) rs1553568970
NM_001040142.2(SCN2A):c.1261T>G (p.Leu421Val) rs2105255913
NM_001040142.2(SCN2A):c.1267G>A (p.Val423Met)
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1267G>T (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1270G>A (p.Val424Met) rs1574567728
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) rs796053181
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly) rs796053181
NM_001040142.2(SCN2A):c.1288G>A (p.Glu430Lys) rs1553568990
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly) rs796053183
NM_001040142.2(SCN2A):c.1291C>T (p.Gln431Ter)
NM_001040142.2(SCN2A):c.1307T>C (p.Leu436Ser) rs1553569010
NM_001040142.2(SCN2A):c.1312G>A (p.Glu438Lys) rs796053184
NM_001040142.2(SCN2A):c.1312G>C (p.Glu438Gln) rs796053184
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) rs1553569054
NM_001040142.2(SCN2A):c.1360A>T (p.Lys454Ter)
NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter) rs1553569087
NM_001040142.2(SCN2A):c.1450del (p.Ser484fs) rs2105259671
NM_001040142.2(SCN2A):c.1486A>T (p.Lys496Ter)
NM_001040142.2(SCN2A):c.1497del (p.Glu500fs) rs2105259788
NM_001040142.2(SCN2A):c.1508del (p.Asn503fs)
NM_001040142.2(SCN2A):c.1508dup (p.Asn503fs)
NM_001040142.2(SCN2A):c.1519A>T (p.Lys507Ter)
NM_001040142.2(SCN2A):c.1528_1533del (p.Gln510_Lys511del) rs2105259847
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) rs1697702086
NM_001040142.2(SCN2A):c.1533_1536del (p.Lys511fs) rs1553569662
NM_001040142.2(SCN2A):c.1552G>T (p.Glu518Ter) rs1553569732
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter) rs1553569754
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
NM_001040142.2(SCN2A):c.1687del (p.Arg563fs)
NM_001040142.2(SCN2A):c.1729del (p.Leu577fs) rs2105276746
NM_001040142.2(SCN2A):c.1737C>G (p.Ser579Arg) rs2105276771
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter) rs1553571901
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter) rs746060762
NM_001040142.2(SCN2A):c.1819_1831del (p.Arg607fs) rs2105276912
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs) rs1698166561
NM_001040142.2(SCN2A):c.1879C>T (p.Gln627Ter)
NM_001040142.2(SCN2A):c.1966del (p.Leu656fs)
NM_001040142.2(SCN2A):c.1976dup (p.Ser661fs)
NM_001040142.2(SCN2A):c.2081T>A (p.Leu694Ter)
NM_001040142.2(SCN2A):c.2150-2A>G rs2105293230
NM_001040142.2(SCN2A):c.2164del (p.Arg722fs)
NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) rs1553574522
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
NM_001040142.2(SCN2A):c.2190T>A (p.Tyr730Ter) rs2105293298
NM_001040142.2(SCN2A):c.2197G>A (p.Ala733Thr)
NM_001040142.2(SCN2A):c.2242del (p.Lys747_Val748insTer)
NM_001040142.2(SCN2A):c.2317A>G (p.Thr773Ala) rs1574611024
NM_001040142.2(SCN2A):c.2343T>G (p.Tyr781Ter)
NM_001040142.2(SCN2A):c.2388+1G>A rs1698674881
NM_001040142.2(SCN2A):c.2473_2474del (p.Ile825fs)
NM_001040142.2(SCN2A):c.2480A>G (p.Asp827Gly) rs796053112
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe) rs1699366355
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) rs1553578503
NM_001040142.2(SCN2A):c.2552C>A (p.Ser851Ter)
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2558G>C (p.Arg853Pro) rs794727152
NM_001040142.2(SCN2A):c.2562+2T>C rs1574636792
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln) rs797045942
NM_001040142.2(SCN2A):c.2588C>A (p.Ser863Tyr) rs1215326426
NM_001040142.2(SCN2A):c.2591G>A (p.Trp864Ter)
NM_001040142.2(SCN2A):c.2592G>A (p.Trp864Ter)
NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) rs1553579282
NM_001040142.2(SCN2A):c.2634_2635delinsTC (p.Gly879Arg)
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2638del (p.Ala880fs)
NM_001040142.2(SCN2A):c.2657T>C (p.Leu886Ser) rs796053118
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile) rs121917751
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) rs1057519526
NM_001040142.2(SCN2A):c.2711del (p.Gly904fs)
NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs) rs1699481130
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2783T>G (p.Phe928Cys)
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys) rs796053197
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter) rs1553579543
NM_001040142.2(SCN2A):c.2869del (p.Thr957fs)
NM_001040142.2(SCN2A):c.2870C>A (p.Thr957Asn) rs2105319167
NM_001040142.2(SCN2A):c.2871del (p.Met958fs)
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val) rs2105319172
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter) rs746163041
NM_001040142.2(SCN2A):c.2928C>A (p.Asn976Lys) rs2105336790
NM_001040142.2(SCN2A):c.2936T>C (p.Leu979Ser)
NM_001040142.2(SCN2A):c.2948T>G (p.Leu983Trp) rs1553583560
NM_001040142.2(SCN2A):c.2970T>A (p.Asn990Lys)
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3007C>A (p.Leu1003Ile) rs121917754
NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) rs1553583659
NM_001040142.2(SCN2A):c.3048del (p.Phe1016fs)
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) rs387906683
NM_001040142.2(SCN2A):c.3067G>T (p.Glu1023Ter) rs1397215259
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs) rs2105337298
NM_001040142.2(SCN2A):c.3211G>T (p.Gly1071Ter)
NM_001040142.2(SCN2A):c.3244_3245del (p.Val1082fs)
NM_001040142.2(SCN2A):c.330C>A (p.Tyr110Ter) rs2106151184
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs) rs587780450
NM_001040142.2(SCN2A):c.3399+1del rs2105337639
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3551_3558del (p.Ile1184fs)
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs) rs1553590192
NM_001040142.2(SCN2A):c.3582G>A (p.Trp1194Ter)
NM_001040142.2(SCN2A):c.3606T>G (p.Tyr1202Ter)
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter) rs1085307500
NM_001040142.2(SCN2A):c.3736dup (p.Asp1246fs) rs1700953301
NM_001040142.2(SCN2A):c.3782G>A (p.Trp1261Ter) rs1553591818
NM_001040142.2(SCN2A):c.3802dup (p.Val1268fs) rs2105365318
NM_001040142.2(SCN2A):c.3843T>G (p.Ile1281Met)
NM_001040142.2(SCN2A):c.3850-2A>G rs1701136915
NM_001040142.2(SCN2A):c.3913dup (p.Leu1305fs) rs1701138696
NM_001040142.2(SCN2A):c.3915del (p.Arg1306fs)
NM_001040142.2(SCN2A):c.3936G>T (p.Arg1312Ser) rs1317894002
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) rs190111194
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.3967A>G (p.Met1323Val) rs1057519523
NM_001040142.2(SCN2A):c.3973G>A (p.Val1325Ile)
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr) rs796053132
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser) rs796053132
NM_001040142.2(SCN2A):c.399_400dup (p.Leu134fs)
NM_001040142.2(SCN2A):c.3G>A (p.Met1Ile)
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val) rs796053135
NM_001040142.2(SCN2A):c.4061T>C (p.Met1354Thr) rs1553593676
NM_001040142.2(SCN2A):c.407T>G (p.Met136Arg)
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile) rs1697221269
NM_001040142.2(SCN2A):c.4141_4142insGTGCACGCTT (p.Asn1381fs)
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly) rs794727364
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) rs1574716488
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter) rs1553461660
NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) rs1553461662
NM_001040142.2(SCN2A):c.4272G>A (p.Trp1424Ter)
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter) rs2105384553
NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs)
NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter) rs1574731232
NM_001040142.2(SCN2A):c.4364T>A (p.Ile1455Asn) rs2105384629
NM_001040142.2(SCN2A):c.4377T>G (p.Phe1459Leu)
NM_001040142.2(SCN2A):c.4385del (p.Phe1462fs)
NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs) rs1701553164
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile) rs1701553334
NM_001040142.2(SCN2A):c.4399C>G (p.Leu1467Val) rs2105384694
NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) rs387906685
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
NM_001040142.2(SCN2A):c.4432C>A (p.Gln1478Lys) rs1553462132
NM_001040142.2(SCN2A):c.4432C>G (p.Gln1478Glu) rs1553462132
NM_001040142.2(SCN2A):c.4437del (p.Lys1481fs)
NM_001040142.2(SCN2A):c.4446+9A>G rs796053140
NM_001040142.2(SCN2A):c.4451_4454del (p.Gly1484fs)
NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp) rs1701579057
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4498G>A (p.Ala1500Thr) rs2105385811
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val) rs2105385817
NM_001040142.2(SCN2A):c.4502T>C (p.Met1501Thr) rs1553462227
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.4523A>T (p.Lys1508Ile) rs2105385886
NM_001040142.2(SCN2A):c.452del (p.Pro151fs) rs1697224468
NM_001040142.2(SCN2A):c.4533dup (p.Pro1512fs) rs2105385903
NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter) rs1365774406
NM_001040142.2(SCN2A):c.4544G>A (p.Arg1515Gln)
NM_001040142.2(SCN2A):c.4551+1G>A rs527688117
NM_001040142.2(SCN2A):c.4575del (p.Phe1525fs)
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln) rs1553567130
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001040142.2(SCN2A):c.4745T>C (p.Leu1582Pro) rs1701905156
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4769T>C (p.Phe1590Ser) rs544310562
NM_001040142.2(SCN2A):c.4787T>G (p.Ile1596Ser) rs2105398613
NM_001040142.2(SCN2A):c.4822+1G>T
NM_001040142.2(SCN2A):c.4835C>G (p.Ala1612Gly) rs2105402019
NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs) rs1574751309
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser)
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn) rs1702001950
NM_001040142.2(SCN2A):c.4871T>C (p.Leu1624Pro)
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) rs1060503102
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) rs796053156
NM_001040142.2(SCN2A):c.4885C>G (p.Arg1629Gly) rs1702003567
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4886G>C (p.Arg1629Pro)
NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu) rs796053157
NM_001040142.2(SCN2A):c.4901G>T (p.Gly1634Val) rs1553463427
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe) rs1702006673
NM_001040142.2(SCN2A):c.4928C>A (p.Ala1643Glu)
NM_001040142.2(SCN2A):c.4933G>A (p.Gly1645Arg) rs2105402260
NM_001040142.2(SCN2A):c.4948C>A (p.Leu1650Ile) rs1702008323
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) rs1702008435
NM_001040142.2(SCN2A):c.4954G>C (p.Ala1652Pro)
NM_001040142.2(SCN2A):c.4969C>T (p.Leu1657Phe) rs2105402331
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5018T>C (p.Ile1673Thr)
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5125del (p.Gln1709fs) rs1553463516
NM_001040142.2(SCN2A):c.5132C>G (p.Thr1711Arg)
NM_001040142.2(SCN2A):c.5144G>T (p.Gly1715Val) rs1702015681
NM_001040142.2(SCN2A):c.5144_5153del (p.Gly1715fs) rs2105402593
NM_001040142.2(SCN2A):c.5198del (p.Pro1733fs) rs2105402711
NM_001040142.2(SCN2A):c.5237G>A (p.Cys1746Tyr) rs2105402821
NM_001040142.2(SCN2A):c.5268dup (p.Val1757fs)
NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) rs1558886168
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5325C>G (p.Ile1775Met)
NM_001040142.2(SCN2A):c.5407G>T (p.Glu1803Ter)
NM_001040142.2(SCN2A):c.5431C>G (p.Gln1811Glu) rs1553463649
NM_001040142.2(SCN2A):c.5558A>G (p.His1853Arg) rs2105403389
NM_001040142.2(SCN2A):c.5563C>A (p.Leu1855Ile) rs2105403397
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5640A>C (p.Glu1880Asp) rs2105403544
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr) rs2105403619
NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys) rs1553567381
NM_001040142.2(SCN2A):c.579G>A (p.Trp193Ter) rs748656792
NM_001040142.2(SCN2A):c.605+1G>A
NM_001040142.2(SCN2A):c.605+1G>C
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.631G>A (p.Gly211Ser)
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp) rs2105244906
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.640T>C (p.Ser214Pro) rs1057517854
NM_001040142.2(SCN2A):c.643G>A (p.Ala215Thr) rs1131691927
NM_001040142.2(SCN2A):c.647T>G (p.Leu216Trp) rs796053203
NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly) rs1559352550
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser) rs1064795014
NM_001040142.2(SCN2A):c.718del (p.Ala240fs) rs2105247156
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val) rs1553567864
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile) rs1057519528
NM_001040142.2(SCN2A):c.752T>C (p.Val251Ala) rs2105247262
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001040142.2(SCN2A):c.773_776del (p.Phe257_Cys258insTer) rs2105247288
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu) rs1057520413
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr) rs1697364931
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter) rs1553564141
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter) rs1553567936
NM_001040142.2(SCN2A):c.807G>T (p.Leu269Phe) rs2105247416
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
NM_001040142.2(SCN2A):c.851A>G (p.Asp284Gly) rs796053173
NM_001040142.2(SCN2A):c.860_863dup (p.Glu289fs)
NM_001040142.2(SCN2A):c.882del (p.Phe295fs) rs1553568045
NM_001040142.2(SCN2A):c.962_970+1del rs1559353540
NM_001040142.2(SCN2A):c.986dup (p.Leu329fs) rs2105251438
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001042646.3(TRAK1):c.287-2A>C rs1559877920
NM_001042646.3(TRAK1):c.287-2A>G rs1559877920
NM_001077350.3(NPRL3):c.1025dup (p.Cys343fs) rs1898837245
NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)
NM_001077350.3(NPRL3):c.1040del (p.Pro347fs)
NM_001077350.3(NPRL3):c.1070del (p.Pro357fs) rs886037962
NM_001077350.3(NPRL3):c.1078del (p.Asp360fs)
NM_001077350.3(NPRL3):c.1093del (p.Ala366fs)
NM_001077350.3(NPRL3):c.1149del (p.Ala384fs) rs2141907691
NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter) rs1371859768
NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)
NM_001077350.3(NPRL3):c.1174C>T (p.Gln392Ter) rs2141902592
NM_001077350.3(NPRL3):c.1178dup (p.Met393fs) rs2141902589
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
NM_001077350.3(NPRL3):c.119-1G>C rs2141981312
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro) rs2141902503
NM_001077350.3(NPRL3):c.1211_1245del (p.Ile404fs) rs1898686157
NM_001077350.3(NPRL3):c.1213C>T (p.Gln405Ter) rs1898688345
NM_001077350.3(NPRL3):c.1230_1231del (p.Cys411fs) rs1898687282
NM_001077350.3(NPRL3):c.1255G>T (p.Glu419Ter)
NM_001077350.3(NPRL3):c.1270dup (p.Arg424fs) rs1567129567
NM_001077350.3(NPRL3):c.1332_1333dup (p.Leu445fs) rs1898675878
NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC rs886037959
NM_001077350.3(NPRL3):c.1372del (p.Leu458fs) rs1898627430
NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs) rs886037960
NM_001077350.3(NPRL3):c.138C>G (p.Tyr46Ter) rs1021001959
NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)
NM_001077350.3(NPRL3):c.1466_1467dup (p.Leu490fs)
NM_001077350.3(NPRL3):c.1474G>T (p.Glu492Ter)
NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter) rs2141899833
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.15del (p.Ser6fs) rs2141995568
NM_001077350.3(NPRL3):c.169G>T (p.Glu57Ter)
NM_001077350.3(NPRL3):c.189-1G>A rs1900184374
NM_001077350.3(NPRL3):c.231_232del (p.Glu78fs)
NM_001077350.3(NPRL3):c.244C>T (p.Gln82Ter) rs1900181500
NM_001077350.3(NPRL3):c.258del (p.Lys87fs) rs2141960699
NM_001077350.3(NPRL3):c.269del (p.Asn90fs)
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.280del (p.Val94fs) rs2141960644
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter) rs1596528731
NM_001077350.3(NPRL3):c.316C>T (p.Gln106Ter) rs1215657187
NM_001077350.3(NPRL3):c.318+1G>A rs2141960559
NM_001077350.3(NPRL3):c.341del (p.Pro114fs) rs1596526976
NM_001077350.3(NPRL3):c.349del (p.Glu117fs) rs1900088045
NM_001077350.3(NPRL3):c.377del (p.Val126fs) rs1596526915
NM_001077350.3(NPRL3):c.419dup (p.Asn140fs) rs2141950334
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs) rs1567139896
NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)
NM_001077350.3(NPRL3):c.44del (p.Ser15fs) rs1901211202
NM_001077350.3(NPRL3):c.460C>T (p.Gln154Ter) rs2141950212
NM_001077350.3(NPRL3):c.481C>T (p.Gln161Ter) rs1899868619
NM_001077350.3(NPRL3):c.496G>T (p.Glu166Ter) rs1596522300
NM_001077350.3(NPRL3):c.496_499del (p.Glu166fs)
NM_001077350.3(NPRL3):c.518dup (p.Gln174fs) rs2141950064
NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)
NM_001077350.3(NPRL3):c.562C>T (p.Gln188Ter)
NM_001077350.3(NPRL3):c.56del (p.Gly19fs)
NM_001077350.3(NPRL3):c.622del (p.Tyr208fs) rs2141946070
NM_001077350.3(NPRL3):c.644del (p.Gly215fs) rs1899234101
NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)
NM_001077350.3(NPRL3):c.726dup (p.Ile243fs) rs2141925225
NM_001077350.3(NPRL3):c.745G>T (p.Glu249Ter) rs200041907
NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)
NM_001077350.3(NPRL3):c.767+1G>T rs1567134495
NM_001077350.3(NPRL3):c.767+1del rs2141925052
NM_001077350.3(NPRL3):c.768-1G>A
NM_001077350.3(NPRL3):c.781del (p.Leu261fs)
NM_001077350.3(NPRL3):c.78C>A (p.Tyr26Ter) rs2141995468
NM_001077350.3(NPRL3):c.799G>T (p.Glu267Ter)
NM_001077350.3(NPRL3):c.835dup (p.Ser279fs) rs886037958
NM_001077350.3(NPRL3):c.85C>T (p.Gln29Ter)
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001077350.3(NPRL3):c.922C>T (p.Gln308Ter) rs2141920098
NM_001077350.3(NPRL3):c.922_923dup (p.Gln308fs) rs1555441032
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His) rs1596505517
NM_001077350.3(NPRL3):c.931C>T (p.Gln311Ter) rs1898844513
NM_001077350.3(NPRL3):c.94C>T (p.Gln32Ter) rs1567152003
NM_001077350.3(NPRL3):c.954C>G (p.Tyr318Ter) rs1596500172
NM_001077350.3(NPRL3):c.975del (p.Tyr326fs)
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) rs863225286
NM_001099922.3(ALG13):c.120A>C (p.Gln40His) rs2147624939
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) rs867599353
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser) rs1945385727
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.-2_15del (p.Met1fs)
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs)
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) rs2065914451
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) rs2148661665
NM_001110792.2(MECP2):c.1030_1031del (p.Ser344fs)
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) rs1569548376
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) rs1557136059
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs)
NM_001110792.2(MECP2):c.1083_1231delinsGTGTCTGCATACCTGA (p.Ser361_Pro411delinsArgCysLeuHisThrTer)
NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs)
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) rs2148659417
NM_001110792.2(MECP2):c.1122_1265delinsAAGTCCTGGGGCT (p.Lys375fs)
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1126A>T (p.Lys376Ter)
NM_001110792.2(MECP2):c.1136_*557del (p.His379fs)
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs)
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs)
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) rs2148660220
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1179_1183del (p.Leu394fs)
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) rs2148660746
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) rs2148660777
NM_001110792.2(MECP2):c.1184_1228delinsC (p.Leu395fs)
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs)
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) rs1569548307
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs)
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) rs1569548314
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1195_1279del (p.Pro399fs) rs2065908727
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs)
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs)
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) rs2148659670
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs)
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)
NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs)
NM_001110792.2(MECP2):c.1243_*586del (p.Pro415fs)
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) rs2148659330
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) rs2148659257
NM_001110792.2(MECP2):c.1303_1334del (p.Ser435_Leu436insTer)
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) rs2065907185
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) rs2148658967
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) rs1557135091
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) rs1557135004
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) rs2148667088
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs)
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser)
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.231del (p.Glu78fs) rs2148666876
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.23del (p.Ala8fs) rs1603341359
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) rs1603310794
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) rs2148666695
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.44_57del (p.Gly15fs)
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs)
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) rs2148663769
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.616_670del (p.Gly207fs)
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.63-1928_1277del
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-4487_1204del
NM_001110792.2(MECP2):c.63-5778_1174del
NM_001110792.2(MECP2):c.63-7080_1196del
NM_001110792.2(MECP2):c.670del (p.Val224fs) rs2065950974
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) rs2148663296
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) rs63260260
NM_001110792.2(MECP2):c.732del (p.Lys245fs) rs61749741
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.745_746del (p.Gly249fs)
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) rs2148667313
NM_001110792.2(MECP2):c.762del (p.Thr255fs)
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) rs1603308957
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) rs2148662532
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.842dup (p.Arg282fs)
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) rs2148661699
NM_001110792.2(MECP2):c.904dup (p.Glu302fs)
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.912_916del (p.Arg306fs)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) rs2065935510
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.948G>C (p.Lys316Asn) rs1603308358
NM_001110792.2(MECP2):c.949A>T (p.Lys317Ter)
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001110792.2(MECP2):c.953G>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) rs2148661892
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.970dup (p.Val324fs) rs2148661854
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) rs1603307604
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) rs2148661645
NM_001111125.3(IQSEC2):c.4264_4265del (p.Gln1422fs) rs2147000956
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met) rs2133805364
NM_001112741.2(KCNC1):c.1199C>A (p.Thr400Asn)
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001122752.2(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_001122752.2(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg) rs121909054
NM_001122752.2(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg) rs1577418477
NM_001127221.2(CACNA1A):c.5532C>A (p.Cys1844Ter) rs765557914
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter) rs1296262946
NM_001127221.2(CACNA1A):c.5586del (p.Leu1863fs) rs2144616676
NM_001127221.2(CACNA1A):c.5588_5589del (p.Leu1863fs) rs1431092862
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_001127222.2(CACNA1A):c.1082+1G>A rs1272886269
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) rs2145192572
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) rs1600353301
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) rs1568528298
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) rs767432719
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) rs1568528144
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) rs2145030772
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1668+519_1842del
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) rs1555759066
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) rs2057953268
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
NM_001127222.2(CACNA1A):c.1841T>A (p.Ile614Asn)
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) rs940460024
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
NM_001127222.2(CACNA1A):c.2070dup (p.Ile691fs)
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser) rs886037945
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) rs1555756737
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) rs1555756461
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) rs2057739636
NM_001127222.2(CACNA1A):c.2371_2381del (p.Arg790_Glu791insTer)
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter) rs1231997862
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) rs1600274038
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2530_2542del (p.Thr844fs)
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
NM_001127222.2(CACNA1A):c.2713del (p.Ala905fs)
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) rs1555756130
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs)
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) rs2144954299
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.291G>A (p.Trp97Ter)
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer) rs2144952476
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
NM_001127222.2(CACNA1A):c.3089+1G>A rs2057717676
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs) rs2144889523
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) rs2144888569
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3437del (p.Val1146fs)
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) rs1568494824
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs) rs2144880750
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3591dup (p.Glu1198fs)
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
NM_001127222.2(CACNA1A):c.3660T>G (p.Tyr1220Ter)
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys) rs1555751762
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) rs2144839766
NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg)
NM_001127222.2(CACNA1A):c.3989+1G>T rs587776693
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4045G>T (p.Val1349Leu)
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4078delinsAT (p.Pro1360fs)
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs) rs2144772838
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)
NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter) rs2056733130
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) rs1568470104
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp) rs2056674737
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) rs2144758193
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
NM_001127222.2(CACNA1A):c.4389-1G>C rs1360397142
NM_001127222.2(CACNA1A):c.4389-2A>C
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) rs1555743942
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser) rs2144748340
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) rs886037946
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) rs2144735303
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) rs1599289383
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs) rs2144726142
NM_001127222.2(CACNA1A):c.4886G>A (p.Trp1629Ter)
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
NM_001127222.2(CACNA1A):c.4950+1G>T rs1568457080
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) rs2144649756
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.506G>A (p.Trp169Ter)
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) rs1600139005
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) rs2144936041
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) rs2144622488
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter) rs267606696
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) rs2144622191
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) rs1600114562
NM_001127222.2(CACNA1A):c.5749C>T (p.Gln1917Ter)
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
NM_001127222.2(CACNA1A):c.6050+4_6050+7del rs2054856814
NM_001127222.2(CACNA1A):c.6082_6088del (p.Pro2028fs)
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) rs1158454977
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter) rs2144506487
NM_001127222.2(CACNA1A):c.6371C>G (p.Ser2124Ter)
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs) rs2144506286
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6662dup (p.Pro2222fs)
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941
NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter) rs2059069286
NM_001127222.2(CACNA1A):c.831del (p.Ala278fs)
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) rs2145245392
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) rs1599276954
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) rs1599276830
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)
NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu) rs1755339912
NM_001127644.2(GABRA1):c.1059+2T>C rs1755341108
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu) rs1064796448
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser) rs2113380903
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly) rs1754197638
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln) rs1376907797
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp) rs2113389254
NM_001127644.2(GABRA1):c.560-95_598del
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys) rs2113446442
NM_001127644.2(GABRA1):c.778C>G (p.Pro260Ala)
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly) rs1755063375
NM_001127644.2(GABRA1):c.813del (p.Phe272fs) rs2113446665
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
NM_001127644.2(GABRA1):c.859G>T (p.Val287Leu) rs796052493
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile) rs1755330256
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala) rs189199636
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs) rs1561587715
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg) rs796052495
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu) rs1755333582
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu) rs2113464798
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) rs1755338662
NM_001130021.3(ATP6V0A1):c.1429T>C (p.Ser477Pro)
NM_001130021.3(ATP6V0A1):c.1631G>A (p.Gly544Asp)
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130021.3(ATP6V0A1):c.2411G>A (p.Arg804His)
NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)
NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter) rs2131088567
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.1773_1774del (p.Lys592fs) rs1852112548
NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter) rs1852152679
NM_001130438.3(SPTAN1):c.2860del (p.Gln954fs) rs2131239154
NM_001130438.3(SPTAN1):c.2961del (p.Thr987_Met988insTer) rs1853049371
NM_001130438.3(SPTAN1):c.3251_3252del (p.Lys1084fs) rs2131360489
NM_001130438.3(SPTAN1):c.3279del (p.Lys1093fs) rs1853919580
NM_001130438.3(SPTAN1):c.3292del (p.Arg1098fs)
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro) rs1856116625
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
NM_001130438.3(SPTAN1):c.5531_5532del (p.Glu1844fs)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter) rs2131952314
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.6937dup (p.Leu2313fs)
NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp) rs2132090668
NM_001130438.3(SPTAN1):c.6975_6995delinsTC (p.Thr2326fs)
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.6993dup (p.Glu2332fs) rs1859912470
NM_001130438.3(SPTAN1):c.7008_7009del (p.Met2336fs)
NM_001130438.3(SPTAN1):c.7225_7228dup (p.Ser2410Ter)
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001130438.3(SPTAN1):c.889_896del (p.His297fs) rs2131012464
NM_001130438.3:c.(?_1225)_(1572_?)del
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1007+1G>C
NM_001134407.3(GRIN2A):c.1007+1G>T rs397518465
NM_001134407.3(GRIN2A):c.1045_1051del (p.Ser349fs)
NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) rs2043685576
NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) rs1555501093
NM_001134407.3(GRIN2A):c.1123-1G>A rs2042854251
NM_001134407.3(GRIN2A):c.1123-2A>G rs397518469
NM_001134407.3(GRIN2A):c.1123-2A>T
NM_001134407.3(GRIN2A):c.1133G>A (p.Trp378Ter)
NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) rs1555496202
NM_001134407.3(GRIN2A):c.1194del (p.Cys399fs) rs2141369731
NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) rs2042851617
NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) rs2042850660
NM_001134407.3(GRIN2A):c.1285T>C (p.Cys429Arg)
NM_001134407.3(GRIN2A):c.1289_1292dup (p.Arg431fs)
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg) rs1555496111
NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter)
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) rs774228933
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) rs2042667149
NM_001134407.3(GRIN2A):c.1475_1478del (p.Val492fs)
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1497+1G>T rs2141344569
NM_001134407.3(GRIN2A):c.1497+2T>C rs2042665950
NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs)
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) rs267604688
NM_001134407.3(GRIN2A):c.1538C>T (p.Thr513Ile) rs1064796950
NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) rs1555494686
NM_001134407.3(GRIN2A):c.154C>T (p.Arg52Ter)
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) rs397518470
NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) rs397518470
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_001134407.3(GRIN2A):c.1639T>C (p.Ser547Pro)
NM_001134407.3(GRIN2A):c.1639_1641del (p.Ser547del) rs1555494676
NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) rs1596483044
NM_001134407.3(GRIN2A):c.1651+1G>A
NM_001134407.3(GRIN2A):c.1651+2T>A rs2141341781
NM_001134407.3(GRIN2A):c.1651G>T (p.Glu551Ter)
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) rs397518450
NM_001134407.3(GRIN2A):c.1661G>C (p.Ser554Thr)
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001134407.3(GRIN2A):c.1673G>C (p.Trp558Ser) rs1555493585
NM_001134407.3(GRIN2A):c.1691T>G (p.Met564Arg) rs2141325573
NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) rs2141325493
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter) rs143833346
NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) rs1060503228
NM_001134407.3(GRIN2A):c.1747G>T (p.Gly583Ter)
NM_001134407.3(GRIN2A):c.1790del (p.Pro597fs)
NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) rs1555492790
NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) rs2141312814
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) rs869312916
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) rs397518447
NM_001134407.3(GRIN2A):c.1847C>T (p.Ser616Phe)
NM_001134407.3(GRIN2A):c.1871_1884del (p.Gly624fs)
NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) rs1555492769
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr) rs2042449005
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) rs2042447850
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) rs397514557
NM_001134407.3(GRIN2A):c.194del (p.Leu65fs)
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) rs397518471
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) rs2042447540
NM_001134407.3(GRIN2A):c.2008-1G>A
NM_001134407.3(GRIN2A):c.2023_2027del (p.Asp675fs)
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) rs397518472
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys) rs1445802934
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2079C>G (p.Asn693Lys)
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr) rs2141294911
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln) rs1555491654
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser) rs1555491648
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001134407.3(GRIN2A):c.2168+1G>C rs2141294532
NM_001134407.3(GRIN2A):c.2168+1G>T
NM_001134407.3(GRIN2A):c.2169-1G>C rs2141231277
NM_001134407.3(GRIN2A):c.2179G>A (p.Ala727Thr) rs1555488144
NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) rs1903138230
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn) rs796052549
NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) rs1439688451
NM_001134407.3(GRIN2A):c.2224del (p.Asp742fs)
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) rs776791010
NM_001134407.3(GRIN2A):c.2346_2356+8del rs1064795143
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) rs1250662891
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.2526C>G (p.Tyr842Ter)
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) rs1555482933
NM_001134407.3(GRIN2A):c.2776del (p.Gln926fs) rs1596377481
NM_001134407.3(GRIN2A):c.2793del (p.Met932fs) rs1596377439
NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) rs397518467
NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) rs2141136701
NM_001134407.3(GRIN2A):c.2860_2861del (p.Ser954fs)
NM_001134407.3(GRIN2A):c.2933_2934del (p.Tyr978fs)
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) rs397518466
NM_001134407.3(GRIN2A):c.3025A>T (p.Arg1009Ter)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3163del (p.Glu1055fs)
NM_001134407.3(GRIN2A):c.316C>T (p.Gln106Ter)
NM_001134407.3(GRIN2A):c.3177_3195del (p.Asp1060fs)
NM_001134407.3(GRIN2A):c.3304G>T (p.Glu1102Ter)
NM_001134407.3(GRIN2A):c.3531dup (p.Leu1178fs)
NM_001134407.3(GRIN2A):c.3609del (p.Ser1204fs)
NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) rs2141130040
NM_001134407.3(GRIN2A):c.384del (p.His128fs)
NM_001134407.3(GRIN2A):c.3887del (p.Val1296fs) rs1900702353
NM_001134407.3(GRIN2A):c.3998C>G (p.Ser1333Ter)
NM_001134407.3(GRIN2A):c.4021dup (p.Ser1341fs)
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs) rs1900666405
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001134407.3(GRIN2A):c.4330del (p.Val1444fs)
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) rs1555455815
NM_001134407.3(GRIN2A):c.476del (p.Leu159fs)
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) rs1057524089
NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) rs2050242587
NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) rs1596587476
NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) rs1555455727
NM_001134407.3(GRIN2A):c.59_66del (p.Gly20fs)
NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) rs2141631751
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) rs387906637
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr) rs1238779318
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs) rs2044762657
NM_001134407.3(GRIN2A):c.806del (p.Pro269fs)
NM_001134407.3(GRIN2A):c.809_810del (p.Lys270fs)
NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) rs2141630590
NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) rs1555455620
NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) rs1555455618
NM_001134407.3(GRIN2A):c.85A>T (p.Lys29Ter)
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) rs1555491538
NM_001161352.2(KCNMA1):c.1284del (p.Leu429fs) rs2153792334
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs) rs2153773364
NM_001161352.2(KCNMA1):c.1869del (p.Phe623fs)
NM_001161352.2(KCNMA1):c.2488C>T (p.Arg830Ter) rs2065361594
NM_001161352.2(KCNMA1):c.2521del (p.His841fs) rs2152944295
NM_001161352.2(KCNMA1):c.2786del (p.Asn929fs) rs2063502424
NM_001161352.2(KCNMA1):c.2824G>A (p.Glu942Lys) rs1554966197
NM_001161352.2(KCNMA1):c.297del (p.Phe99fs)
NM_001161352.2(KCNMA1):c.302dup (p.Leu102fs) rs753408207
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.3226del (p.Ile1076fs)
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.4(SCN1A):c.1001T>C (p.Leu334Pro) rs1559231284
NM_001165963.4(SCN1A):c.1005del (p.Cys336fs)
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.4(SCN1A):c.1008T>A (p.Cys336Ter) rs1553548096
NM_001165963.4(SCN1A):c.1010G>C (p.Gly337Ala) rs1698176171
NM_001165963.4(SCN1A):c.1018T>C (p.Ser340Pro) rs2105874088
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr) rs2105874070
NM_001165963.4(SCN1A):c.1019C>T (p.Ser340Phe)
NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_001165963.4(SCN1A):c.1028+1G>A rs863225030
NM_001165963.4(SCN1A):c.1028+1G>T rs863225030
NM_001165963.4(SCN1A):c.1028+2T>C rs1698170849
NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_001165963.4(SCN1A):c.1030C>T (p.Gln344Ter)
NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_001165963.4(SCN1A):c.1035_1038dup (p.Glu347fs)
NM_001165963.4(SCN1A):c.1036C>T (p.Pro346Ser) rs2105868306
NM_001165963.4(SCN1A):c.1042G>T (p.Gly348Ter)
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.4(SCN1A):c.1047T>A (p.Tyr349Ter)
NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter) rs1369404945
NM_001165963.4(SCN1A):c.1047dup (p.Met350fs)
NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_001165963.4(SCN1A):c.1048_1049dup (p.Met350fs)
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs) rs2105868028
NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs) rs794726767
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp)
NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1081G>T (p.Gly361Cys)
NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) rs1131691465
NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) rs750209664
NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs) rs794726792
NM_001165963.4(SCN1A):c.1109G>A (p.Trp370Ter) rs2105867367
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser) rs1553547448
NM_001165963.4(SCN1A):c.1118del (p.Leu373fs) rs794726695
NM_001165963.4(SCN1A):c.1118dup (p.Leu373fs) rs794726695
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_001165963.4(SCN1A):c.1133T>C (p.Leu378Pro) rs1698003832
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) rs1698004184
NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del) rs2105867004
NM_001165963.4(SCN1A):c.1134_1140del (p.Met379fs)
NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_001165963.4(SCN1A):c.1142A>G (p.Gln381Arg)
NM_001165963.4(SCN1A):c.1144G>A (p.Asp382Asn) rs1698002491
NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) rs121917939
NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.4(SCN1A):c.1150T>C (p.Trp384Arg)
NM_001165963.4(SCN1A):c.1151G>C (p.Trp384Ser) rs1553547380
NM_001165963.4(SCN1A):c.1152G>A (p.Trp384Ter)
NM_001165963.4(SCN1A):c.1153G>A (p.Glu385Lys) rs796052972
NM_001165963.4(SCN1A):c.1153G>C (p.Glu385Gln) rs796052972
NM_001165963.4(SCN1A):c.1158T>G (p.Asn386Lys)
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_001165963.4(SCN1A):c.1164T>A (p.Tyr388Ter) rs2105866649
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter) rs1697997770
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) rs746413385
NM_001165963.4(SCN1A):c.1170+1G>A rs794726765
NM_001165963.4(SCN1A):c.1170+1G>C rs794726765
NM_001165963.4(SCN1A):c.1170+1G>T rs794726765
NM_001165963.4(SCN1A):c.1170+5G>A rs1057524737
NM_001165963.4(SCN1A):c.1170G>A (p.Leu390=) rs1697996396
NM_001165963.4(SCN1A):c.1171-1G>A
NM_001165963.4(SCN1A):c.1175T>G (p.Leu392Ter)
NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1178G>C (p.Arg393Pro) rs121917927
NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr)
NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs) rs794726777
NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg)
NM_001165963.4(SCN1A):c.1187G>A (p.Gly396Glu)
NM_001165963.4(SCN1A):c.1192dup (p.Thr398fs)
NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs) rs794726818
NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) rs794726725
NM_001165963.4(SCN1A):c.1199dup (p.Met400fs) rs2105862581
NM_001165963.4(SCN1A):c.1206T>A (p.Phe402Leu)
NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_001165963.4(SCN1A):c.1210del (p.Val404fs)
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_001165963.4(SCN1A):c.1216_1217insGC (p.Val406fs)
NM_001165963.4(SCN1A):c.1217T>C (p.Val406Ala)
NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_001165963.4(SCN1A):c.1229del (p.Gly410fs)
NM_001165963.4(SCN1A):c.1232C>T (p.Ser411Leu)
NM_001165963.4(SCN1A):c.1234T>G (p.Phe412Val)
NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_001165963.4(SCN1A):c.1244T>A (p.Ile415Lys)
NM_001165963.4(SCN1A):c.1248T>A (p.Asn416Lys) rs748267258
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu) rs886042528
NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_001165963.4(SCN1A):c.1269del (p.Met424fs) rs1559225495
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs) rs1553560831
NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) rs1574234690
NM_001165963.4(SCN1A):c.1276T>C (p.Tyr426His)
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1278C>A (p.Tyr426Ter) rs146515561
NM_001165963.4(SCN1A):c.1278C>G (p.Tyr426Ter) rs146515561
NM_001165963.4(SCN1A):c.1278_1279delinsAA (p.Tyr426_Glu427delinsTer)
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1285C>T (p.Gln429Ter) rs1455927233
NM_001165963.4(SCN1A):c.1296del (p.Thr433fs) rs1553546789
NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1301dup (p.Leu434fs) rs794726810
NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter) rs1553546763
NM_001165963.4(SCN1A):c.1324del (p.Ala442fs) rs2105861331
NM_001165963.4(SCN1A):c.1327G>T (p.Glu443Ter)
NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter) rs796052976
NM_001165963.4(SCN1A):c.1349del (p.Gln450fs) rs2105861043
NM_001165963.4(SCN1A):c.1353_1354dup (p.Lys452fs)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.1369del (p.Ala457fs)
NM_001165963.4(SCN1A):c.1377+1G>A
NM_001165963.4(SCN1A):c.1377+2T>A
NM_001165963.4(SCN1A):c.1377+2T>C rs1697876590
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1426del (p.Ala476fs) rs1574225593
NM_001165963.4(SCN1A):c.1439C>A (p.Ser480Ter) rs2105852267
NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_001165963.4(SCN1A):c.1448C>A (p.Ser483Ter)
NM_001165963.4(SCN1A):c.1463del (p.Lys488fs) rs1697674296
NM_001165963.4(SCN1A):c.1486del (p.Glu496fs) rs2105851829
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs) rs1697667767
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) rs1553545660
NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_001165963.4(SCN1A):c.1517del (p.Gln506fs) rs2105851438
NM_001165963.4(SCN1A):c.1518_1519del (p.Lys507fs) rs1559220874
NM_001165963.4(SCN1A):c.1525C>T (p.Gln509Ter) rs2105851315
NM_001165963.4(SCN1A):c.1539del (p.Glu514fs) rs1574224274
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter) rs1553545567
NM_001165963.4(SCN1A):c.1549G>T (p.Glu517Ter) rs1392398456
NM_001165963.4(SCN1A):c.1561C>T (p.Gln521Ter)
NM_001165963.4(SCN1A):c.1566dup (p.Ser523fs) rs1574223964
NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs) rs1697645789
NM_001165963.4(SCN1A):c.1584_1588del (p.Ser528fs) rs1553545522
NM_001165963.4(SCN1A):c.1620del (p.Asn541fs) rs2105850381
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1634_1635del (p.Thr544_Tyr545insTer) rs1697632671
NM_001165963.4(SCN1A):c.1635T>G (p.Tyr545Ter)
NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs) rs2105850165
NM_001165963.4(SCN1A):c.1659_1660insT (p.Gln554fs) rs2105849998
NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_001165963.4(SCN1A):c.1662+1G>A rs794726749
NM_001165963.4(SCN1A):c.1662+1G>C rs794726749
NM_001165963.4(SCN1A):c.1662+1G>T rs794726749
NM_001165963.4(SCN1A):c.1662+3A>G rs794726773
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=) rs796052977
NM_001165963.4(SCN1A):c.1663-1G>A
NM_001165963.4(SCN1A):c.1663-2A>G rs1085307520
NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21)
NM_001165963.4(SCN1A):c.1667del (p.Leu556fs) rs794726704
NM_001165963.4(SCN1A):c.1678del (p.Arg560fs)
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1709del (p.Ser570fs) rs2105844439
NM_001165963.4(SCN1A):c.1719C>A (p.Ser573Arg)
NM_001165963.4(SCN1A):c.1724del (p.Phe575fs) rs2105844323
NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg) rs1553560785
NM_001165963.4(SCN1A):c.172_183del (p.Gly58_Leu61del) rs1553560760
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1738dup (p.Arg580fs) rs1559217391
NM_001165963.4(SCN1A):c.1745dup (p.Asp583fs) rs2105844138
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs) rs2105844086
NM_001165963.4(SCN1A):c.1777dup (p.Asp593fs)
NM_001165963.4(SCN1A):c.1795G>T (p.Glu599Ter) rs1553544821
NM_001165963.4(SCN1A):c.1796_1803dup (p.Glu602fs) rs1697473667
NM_001165963.4(SCN1A):c.1800dup (p.Asn601Ter)
NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_001165963.4(SCN1A):c.1807_1808del (p.Ser603fs) rs2105843552
NM_001165963.4(SCN1A):c.181C>T (p.Leu61Phe) rs2105982797
NM_001165963.4(SCN1A):c.181del (p.Leu61fs) rs2105982815
NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.4(SCN1A):c.1834del (p.Arg612fs)
NM_001165963.4(SCN1A):c.1834dup (p.Arg612fs) rs2105843194
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.1839del (p.His614fs) rs1697458345
NM_001165963.4(SCN1A):c.1840_1852delinsGATTCCTTGTTTGTGCACTCAGGT (p.His614fs) rs1574216450
NM_001165963.4(SCN1A):c.184_187del (p.Pro62fs) rs1684673339
NM_001165963.4(SCN1A):c.1850_1851dup (p.Arg618fs) rs1559216338
NM_001165963.4(SCN1A):c.1852del (p.Arg618fs) rs796053064
NM_001165963.4(SCN1A):c.1854dup (p.Asn619fs)
NM_001165963.4(SCN1A):c.185del (p.Pro62fs) rs35595680
NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_001165963.4(SCN1A):c.1879dup (p.Arg627fs) rs1697441834
NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter) rs1697440060
NM_001165963.4(SCN1A):c.1888dup (p.Arg630fs) rs1697439746
NM_001165963.4(SCN1A):c.1895del (p.Leu632fs)
NM_001165963.4(SCN1A):c.1900del (p.Val634fs) rs2105842394
NM_001165963.4(SCN1A):c.1919del (p.Lys640fs)
NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) rs1553544579
NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) rs1553544559
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter) rs1684672231
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs) rs2105841790
NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_001165963.4(SCN1A):c.1972del (p.Ser658fs) rs2105841828
NM_001165963.4(SCN1A):c.2044-1G>A rs1697297091
NM_001165963.4(SCN1A):c.2044-2del
NM_001165963.4(SCN1A):c.2044G>T (p.Gly682Ter) rs1398374184
NM_001165963.4(SCN1A):c.2044_6030del
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
NM_001165963.4(SCN1A):c.2061_2062del (p.Glu688fs) rs2105835707
NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) rs794726747
NM_001165963.4(SCN1A):c.207del (p.Pro70fs) rs1574371902
NM_001165963.4(SCN1A):c.2094del (p.His698fs)
NM_001165963.4(SCN1A):c.2100del (p.Met701fs) rs794726806
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter) rs1574209023
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs) rs1574208760
NM_001165963.4(SCN1A):c.2172del (p.Glu725fs) rs1697277384
NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) rs1553543828
NM_001165963.4(SCN1A):c.2176+1G>A
NM_001165963.4(SCN1A):c.2176+1G>T rs2105834651
NM_001165963.4(SCN1A):c.2176+2T>C
NM_001165963.4(SCN1A):c.2176+3T>A rs794726795
NM_001165963.4(SCN1A):c.2176G>T (p.Glu726Ter)
NM_001165963.4(SCN1A):c.2177-1G>C rs763400390
NM_001165963.4(SCN1A):c.2179_2180insA (p.Leu727fs)
NM_001165963.4(SCN1A):c.2194C>T (p.Gln732Ter)
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu) rs794726742
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2217T>G (p.Tyr739Ter) rs2105829215
NM_001165963.4(SCN1A):c.2232_2233del (p.Phe745fs) rs1697160366
NM_001165963.4(SCN1A):c.2243G>A (p.Trp748Ter) rs1697157422
NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) rs1553543340
NM_001165963.4(SCN1A):c.2253del (p.Pro752fs)
NM_001165963.4(SCN1A):c.2259T>G (p.Tyr753Ter)
NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) rs794726743
NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu) rs794726743
NM_001165963.4(SCN1A):c.2264T>G (p.Leu755Ter)
NM_001165963.4(SCN1A):c.2266A>T (p.Lys756Ter) rs1426666349
NM_001165963.4(SCN1A):c.2267_2268del (p.Lys756fs)
NM_001165963.4(SCN1A):c.2268del (p.Lys756_Val757insTer) rs1559210063
NM_001165963.4(SCN1A):c.226C>A (p.Pro76Thr)
NM_001165963.4(SCN1A):c.2272A>C (p.Lys758Gln) rs1553543316
NM_001165963.4(SCN1A):c.2276_2277del (p.His759fs)
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs) rs2105828550
NM_001165963.4(SCN1A):c.2295del (p.Met766fs)
NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs) rs794726750
NM_001165963.4(SCN1A):c.229del (p.Leu77fs)
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) rs2105982276
NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs) rs794726820
NM_001165963.4(SCN1A):c.231_247del (p.Glu78fs) rs2105982105
NM_001165963.4(SCN1A):c.2341_2344del (p.Asn781fs) rs2105827941
NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro)
NM_001165963.4(SCN1A):c.2344_2385del (p.Thr782_His795del)
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.4(SCN1A):c.2354T>G (p.Met785Arg) rs796053095
NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) rs1057517959
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) rs121918782
NM_001165963.4(SCN1A):c.236A>G (p.Asp79Gly)
NM_001165963.4(SCN1A):c.2370T>G (p.Tyr790Ter)
NM_001165963.4(SCN1A):c.2374del (p.Pro791_Met792insTer)
NM_001165963.4(SCN1A):c.238dup (p.Leu80fs) rs1684663586
NM_001165963.4(SCN1A):c.2393_2411del (p.Asn798fs) rs1574201591
NM_001165963.4(SCN1A):c.239_243del (p.Leu80fs)
NM_001165963.4(SCN1A):c.2402_2403insT (p.Val802fs) rs2105827355
NM_001165963.4(SCN1A):c.2412C>G (p.Asn804Lys)
NM_001165963.4(SCN1A):c.2415+1G>A rs886041292
NM_001165963.4(SCN1A):c.2415+1del rs2105827235
NM_001165963.4(SCN1A):c.2416-1G>A rs1553542421
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg) rs121917941
NM_001165963.4(SCN1A):c.2437del (p.Ala813fs)
NM_001165963.4(SCN1A):c.243C>A (p.Asp81Glu) rs796053016
NM_001165963.4(SCN1A):c.2440G>T (p.Glu814Ter) rs1553542378
NM_001165963.4(SCN1A):c.2460dup (p.Ala821fs) rs1696883051
NM_001165963.4(SCN1A):c.2473dup (p.Tyr825fs)
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter) rs1696880667
NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp) rs794726805
NM_001165963.4(SCN1A):c.247T>G (p.Tyr83Asp) rs1362796016
NM_001165963.4(SCN1A):c.2483_2484del (p.Phe828fs)
NM_001165963.4(SCN1A):c.248A>G (p.Tyr83Cys) rs1574371399
NM_001165963.4(SCN1A):c.2495G>A (p.Trp832Ter) rs1574192998
NM_001165963.4(SCN1A):c.2496G>A (p.Trp832Ter) rs1553542309
NM_001165963.4(SCN1A):c.2499del (p.Asn833fs) rs2105817176
NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.4(SCN1A):c.249C>G (p.Tyr83Ter)
NM_001165963.4(SCN1A):c.2513_2514del (p.Phe838fs) rs2105817065
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg) rs750901301
NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) rs794726738
NM_001165963.4(SCN1A):c.2525T>G (p.Leu842Arg)
NM_001165963.4(SCN1A):c.2528del (p.Ser843fs) rs2105816922
NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) rs2105982029
NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly) rs794726794
NM_001165963.4(SCN1A):c.253dup (p.Ile85fs)
NM_001165963.4(SCN1A):c.2561G>A (p.Gly854Glu)
NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) rs1553542199
NM_001165963.4(SCN1A):c.2569del (p.Val857fs) rs796053065
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2579C>A (p.Ser860Ter) rs1574192005
NM_001165963.4(SCN1A):c.257del (p.Asn86fs)
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) rs397514459
NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2585G>C (p.Arg862Pro)
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) rs121918785
NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp) rs794726712
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.258dup (p.Lys87Ter)
NM_001165963.4(SCN1A):c.2590-1G>A rs2105808993
NM_001165963.4(SCN1A):c.2590-1G>T
NM_001165963.4(SCN1A):c.2590-2A>G rs727504140
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) rs1057517862
NM_001165963.4(SCN1A):c.2595del (p.Val866fs) rs2105808860
NM_001165963.4(SCN1A):c.2596G>C (p.Val866Leu) rs2105808820
NM_001165963.4(SCN1A):c.2603del (p.Lys868fs) rs794726787
NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter) rs2105808640
NM_001165963.4(SCN1A):c.2619G>T (p.Trp873Cys) rs1553541517
NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) rs121918623
NM_001165963.4(SCN1A):c.2627T>G (p.Leu876Ter) rs1696673743
NM_001165963.4(SCN1A):c.262_264+1del rs1574371141
NM_001165963.4(SCN1A):c.264+4_264+7del rs1574370981
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.264+5G>C rs794726762
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs) rs2105808458
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) rs2105808409
NM_001165963.4(SCN1A):c.264_264+5delinsTGCC rs1553560676
NM_001165963.4(SCN1A):c.265-1G>A rs796052953
NM_001165963.4(SCN1A):c.265-1G>C
NM_001165963.4(SCN1A):c.2660T>A (p.Val887Glu)
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) rs1266877537
NM_001165963.4(SCN1A):c.2665del (p.Ala889fs) rs1559200672
NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) rs1553541473
NM_001165963.4(SCN1A):c.2672G>A (p.Gly891Glu)
NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) rs794726815
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs) rs1696660743
NM_001165963.4(SCN1A):c.2684T>C (p.Leu895Pro) rs2105807979
NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) rs794726761
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe) rs1574183148
NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) rs794726721
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) rs1064795735
NM_001165963.4(SCN1A):c.2729A>T (p.Gln910Leu) rs1064795735
NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_001165963.4(SCN1A):c.2736del (p.Phe912fs) rs2105807547
NM_001165963.4(SCN1A):c.2748C>A (p.Tyr916Ter)
NM_001165963.4(SCN1A):c.2751del (p.Asp918fs)
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs) rs1574182550
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) rs2105807206
NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) rs794726811
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.2787_2794del (p.Pro930fs) rs2105807030
NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter) rs1064796213
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser) rs121918788
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) rs794726718
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) rs794726718
NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter) rs1553541303
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val) rs1559199628
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) rs796052987
NM_001165963.4(SCN1A):c.2802G>A (p.Met934Ile) rs121918774
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2807A>C (p.Asp936Ala)
NM_001165963.4(SCN1A):c.2807A>G (p.Asp936Gly)
NM_001165963.4(SCN1A):c.280A>T (p.Asn94Tyr) rs1699367901
NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) rs121918736
NM_001165963.4(SCN1A):c.2819C>A (p.Ser940Tyr)
NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) rs1057521080
NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro) rs121917943
NM_001165963.4(SCN1A):c.2830G>A (p.Val944Met)
NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala) rs121917969
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) rs1696628056
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro) rs121917971
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe)
NM_001165963.4(SCN1A):c.2847T>A (p.Cys949Ter)
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) rs886042004
NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly) rs121918737
NM_001165963.4(SCN1A):c.2855G>A (p.Trp952Ter) rs2105806338
NM_001165963.4(SCN1A):c.2856G>A (p.Trp952Ter) rs1553541193
NM_001165963.4(SCN1A):c.2856G>C (p.Trp952Cys) rs1553541193
NM_001165963.4(SCN1A):c.2859A>G (p.Ile953Met)
NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys) rs121918786
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) rs878854262
NM_001165963.4(SCN1A):c.2862G>C (p.Glu954Asp) rs1041924436
NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs)
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) rs1696619508
NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)
NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) rs794726808
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) rs121918796
NM_001165963.4(SCN1A):c.2875T>G (p.Cys959Gly)
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) rs121918750
NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr)
NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg) rs794726708
NM_001165963.4(SCN1A):c.2883_2892del (p.Glu961fs) rs1696611932
NM_001165963.4(SCN1A):c.2887del (p.Ala963fs) rs2105805934
NM_001165963.4(SCN1A):c.2893C>T (p.Gln965Ter) rs1312664315
NM_001165963.4(SCN1A):c.289_290insT (p.Lys97fs)
NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs) rs794726796
NM_001165963.4(SCN1A):c.2903G>A (p.Cys968Tyr) rs794726823
NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe) rs794726823
NM_001165963.4(SCN1A):c.2904C>A (p.Cys968Ter) rs922757507
NM_001165963.4(SCN1A):c.2911_2913del (p.Val971del) rs2105805638
NM_001165963.4(SCN1A):c.2921T>G (p.Met974Arg)
NM_001165963.4(SCN1A):c.2923_2931del (p.Val975_Val977del)
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) rs1057518325
NM_001165963.4(SCN1A):c.2928G>A (p.Met976Ile) rs1696602585
NM_001165963.4(SCN1A):c.2928G>C (p.Met976Ile) rs1696602585
NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met) rs794726828
NM_001165963.4(SCN1A):c.2929_2944del (p.Val977fs)
NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) rs794726842
NM_001165963.4(SCN1A):c.2940C>A (p.Asn980Lys) rs2105805349
NM_001165963.4(SCN1A):c.2942T>C (p.Leu981Pro)
NM_001165963.4(SCN1A):c.2946+1G>C
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+1_2946+2del rs794726714
NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) rs1553540503
NM_001165963.4(SCN1A):c.2947del rs1696406839
NM_001165963.4(SCN1A):c.2948T>A (p.Val983Asp) rs121918756
NM_001165963.4(SCN1A):c.2950C>G (p.Leu984Val) rs2105797686
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro) rs2105797671
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) rs1574302195
NM_001165963.4(SCN1A):c.2961T>A (p.Phe987Leu)
NM_001165963.4(SCN1A):c.2961del (p.Leu988fs) rs1696403750
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) rs796052990
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) rs1696401617
NM_001165963.4(SCN1A):c.2974C>A (p.Leu992Met)
NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs) rs794726830
NM_001165963.4(SCN1A):c.2983T>C (p.Phe995Leu) rs1696398838
NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.4(SCN1A):c.298T>G (p.Phe100Val)
NM_001165963.4(SCN1A):c.2993A>G (p.Asp998Gly) rs1484321812
NM_001165963.4(SCN1A):c.2993del (p.Asp998fs)
NM_001165963.4(SCN1A):c.2994del (p.Asp998fs) rs796053067
NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs) rs1696391291
NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs) rs794726813
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.305T>C (p.Phe102Ser) rs2105918357
NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) rs794726756
NM_001165963.4(SCN1A):c.3075T>A (p.Tyr1025Ter)
NM_001165963.4(SCN1A):c.3075T>G (p.Tyr1025Ter)
NM_001165963.4(SCN1A):c.3076del (p.Tyr1025_Val1026insTer)
NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) rs1553540389
NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_001165963.4(SCN1A):c.3104_3110del (p.Gln1035fs) rs1574170908
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) rs542420576
NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs) rs1696373154
NM_001165963.4(SCN1A):c.3109_3119del (p.Ser1037fs) rs2105795955
NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp) rs1553553527
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.3124del (p.Gln1042fs)
NM_001165963.4(SCN1A):c.312del (p.Thr105fs) rs1060502187
NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter) rs776984527
NM_001165963.4(SCN1A):c.3146_3150dup (p.Leu1051fs)
NM_001165963.4(SCN1A):c.316del (p.Ser106fs)
NM_001165963.4(SCN1A):c.3172A>T (p.Lys1058Ter)
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) rs1696358124
NM_001165963.4(SCN1A):c.3180_3181insA (p.Cys1061fs) rs1696356978
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter) rs1553540294
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) rs1574169179
NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter) rs1248613652
NM_001165963.4(SCN1A):c.3260del (p.Gly1087fs) rs2105794716
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs) rs1696338792
NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs) rs1696333581
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) rs863225032
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) rs1574168611
NM_001165963.4(SCN1A):c.3311dup (p.Phe1105fs) rs2105794174
NM_001165963.4(SCN1A):c.3327_3328del (p.Leu1111fs)
NM_001165963.4(SCN1A):c.332_333insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCTGTACATTTT (p.Leu111delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs) rs1559193050
NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) rs1131691693
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs) rs1064796177
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.4(SCN1A):c.337C>T (p.Pro113Ser) rs794726711
NM_001165963.4(SCN1A):c.3380T>G (p.Leu1127Ter) rs2105793395
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs) rs2105793286
NM_001165963.4(SCN1A):c.338C>T (p.Pro113Leu) rs1553553462
NM_001165963.4(SCN1A):c.3395_3396del (p.Asp1131_Phe1132insTer) rs2105793178
NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter) rs2105793066
NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter) rs746718015
NM_001165963.4(SCN1A):c.3429+1G>A rs1574166948
NM_001165963.4(SCN1A):c.3429+1G>T rs1574166948
NM_001165963.4(SCN1A):c.3429+2T>C
NM_001165963.4(SCN1A):c.3429+5G>A
NM_001165963.4(SCN1A):c.3430-1552_3481del
NM_001165963.4(SCN1A):c.3430-1G>A
NM_001165963.4(SCN1A):c.3430-2A>G rs1693198997
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) rs1553534296
NM_001165963.4(SCN1A):c.3438_3442del (p.Asn1146fs) rs2105630442
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) rs794726733
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) rs794726728
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) rs61741123
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) rs794726729
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) rs794726774
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) rs368609628
NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) rs1064796384
NM_001165963.4(SCN1A):c.3510dup (p.Pro1171fs)
NM_001165963.4(SCN1A):c.3517dup (p.Glu1173fs) rs1693176153
NM_001165963.4(SCN1A):c.3525_3526insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGAACCTGAAGAAACTCTT (p.Glu1176delinsPhePhePhePhePhePheXaaXaaXaaXaaTyrGluIleSerSerHisThrSerTer)
NM_001165963.4(SCN1A):c.3525dup (p.Glu1176Ter) rs2105628869
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) rs1574069132
NM_001165963.4(SCN1A):c.3550+1G>A rs794726836
NM_001165963.4(SCN1A):c.3550+2T>C rs1574068971
NM_001165963.4(SCN1A):c.3550+2T>G rs1574068971
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter) rs796052995
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3610del (p.Trp1204fs)
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) rs1559149128
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter) rs1553532671
NM_001165963.4(SCN1A):c.3614G>A (p.Trp1205Ter) rs2105610895
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) rs794726720
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) rs121917963
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) rs121918738
NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) rs1060502182
NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter)
NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs) rs1574060717
NM_001165963.4(SCN1A):c.3635del (p.Phe1212fs) rs2105610528
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys)
NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln)
NM_001165963.4(SCN1A):c.3649_3650insTT (p.His1217fs) rs2105610260
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) rs1692870117
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) rs863225033
NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu) rs2105610047
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) rs794726854
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
NM_001165963.4(SCN1A):c.367A>T (p.Lys123Ter)
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) rs2105609699
NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro) rs1574060250
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) rs1057519534
NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg)
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) rs121917911
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.36del (p.Asp12fs) rs1684704927
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3705+1G>C
NM_001165963.4(SCN1A):c.3705+1G>T rs794726744
NM_001165963.4(SCN1A):c.3705+2T>A rs794726735
NM_001165963.4(SCN1A):c.3705+5G>A rs1060502189
NM_001165963.4(SCN1A):c.3706-1G>C rs1692586014
NM_001165963.4(SCN1A):c.3706-2A>G
NM_001165963.4(SCN1A):c.3706-2A>T rs1692586274
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) rs794726770
NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter) rs750364705
NM_001165963.4(SCN1A):c.3715_3721dup (p.Tyr1241Ter) rs2105593982
NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) rs1692581621
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) rs796053072
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) rs794726706
NM_001165963.4(SCN1A):c.3726del (p.Ile1242fs) rs1692577292
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) rs794726727
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) rs794726817
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) rs1574052179
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter) rs1240187329
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) rs777939538
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) rs121918739
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter) rs1043031572
NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter) rs1043031572
NM_001165963.4(SCN1A):c.3785_3797del (p.Ile1262fs) rs1574051665
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) rs148442069
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) rs794726709
NM_001165963.4(SCN1A):c.3803T>G (p.Leu1268Arg) rs2105592653
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) rs121918626
NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter) rs1574051496
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) rs794726841
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) rs794726852
NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) rs1060502188
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) rs794726731
NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter) rs1553531217
NM_001165963.4(SCN1A):c.383+1A>G rs794726803
NM_001165963.4(SCN1A):c.3835T>C (p.Tyr1279His)
NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs)
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.383C>A (p.Ser128Ter) rs2105917674
NM_001165963.4(SCN1A):c.384-1C>G rs794726764
NM_001165963.4(SCN1A):c.384-1C>T rs794726764
NM_001165963.4(SCN1A):c.384_1662dup
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter) rs1559144583
NM_001165963.4(SCN1A):c.3851G>C (p.Trp1284Ser)
NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter) rs1553531178
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) rs863225034
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) rs794726853
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) rs121918740
NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn) rs1553531134
NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del) rs2105591602
NM_001165963.4(SCN1A):c.3867del (p.Phe1289_Leu1290insTer)
NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter) rs2105591567
NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu) rs2105591537
NM_001165963.4(SCN1A):c.3879+1G>A
NM_001165963.4(SCN1A):c.3879+1G>T rs794726700
NM_001165963.4(SCN1A):c.3879+5G>C
NM_001165963.4(SCN1A):c.3880-1G>A
NM_001165963.4(SCN1A):c.3880-1G>T rs1559140855
NM_001165963.4(SCN1A):c.3880-2A>G rs794726816
NM_001165963.4(SCN1A):c.3880-2_3880-1del
NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter) rs2105571577
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) rs146878122
NM_001165963.4(SCN1A):c.3905dup (p.Asn1302fs) rs2105571117
NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter)
NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His) rs1553529527
NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu) rs1574039742
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal) rs1064795733
NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter)
NM_001165963.4(SCN1A):c.3942del (p.Leu1315fs) rs2105570349
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) rs1692166604
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg) rs2105570237
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del) rs1553529461
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr) rs2105569996
NM_001165963.4(SCN1A):c.3967C>A (p.Pro1323Thr)
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) rs1057521746
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) rs794726723
NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro)
NM_001165963.4(SCN1A):c.3971del (p.Leu1324fs)
NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs) rs1559140306
NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter)
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp) rs2105569724
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro)
NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu)
NM_001165963.4(SCN1A):c.398T>C (p.Leu133Pro)
NM_001165963.4(SCN1A):c.3996del (p.Gly1332_Met1333insTer) rs2105569513
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) rs1553529426
NM_001165963.4(SCN1A):c.3G>A (p.Met1Ile) rs1553561016
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4002+1953_4221del
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4002+2361C>G
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001165963.4(SCN1A):c.4002+2T>C rs1559140110
NM_001165963.4(SCN1A):c.4003-11_4036del rs1559128532
NM_001165963.4(SCN1A):c.4003-1G>A rs1574007140
NM_001165963.4(SCN1A):c.4003-1G>C rs1574007140
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) rs121917960
NM_001165963.4(SCN1A):c.4013_4015dup (p.Asn1338_Ala1339insAsp) rs1691093633
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) rs794726789
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) rs794726789
NM_001165963.4(SCN1A):c.4017_4018dup (p.Leu1340fs) rs2105510576
NM_001165963.4(SCN1A):c.4024G>T (p.Gly1342Ter) rs1553525358
NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs) rs1691088488
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) rs1574006857
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) rs794726822
NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr)
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) rs1574006637
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) rs1574006637
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) rs794726821
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu) rs121917954
NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe) rs121917954
NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) rs1057521537
NM_001165963.4(SCN1A):c.4062T>A (p.Cys1354Ter)
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter) rs121917961
NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu) rs121917961
NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu) rs2105509873
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) rs794726779
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) rs794726707
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.409A>C (p.Thr137Pro) rs2105909854
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) rs1553525210
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr) rs2105509347
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr) rs1131691775
NM_001165963.4(SCN1A):c.4133_4134insATAA (p.Asn1378delinsLysTer)
NM_001165963.4(SCN1A):c.4133del (p.Asn1378fs)
NM_001165963.4(SCN1A):c.4144_4153del (p.Gly1382fs)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) rs121917986
NM_001165963.4(SCN1A):c.4168G>T (p.Val1390Leu)
NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs) rs1553525036
NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs) rs1574005235
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
NM_001165963.4(SCN1A):c.4181C>T (p.Thr1394Ile)
NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs) rs1691052813
NM_001165963.4(SCN1A):c.4184_4187dup (p.Cys1396Ter) rs2105508605
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly) rs121917987
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) rs794726745
NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro)
NM_001165963.4(SCN1A):c.4204del (p.Arg1402fs) rs2105508454
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) rs1691048388
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr) rs1559127505
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) rs398123593
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) rs794727337
NM_001165963.4(SCN1A):c.4234A>T (p.Lys1412Ter) rs1553524977
NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) rs1060502183
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) rs1559249734
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser) rs1691039670
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) rs794726705
NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly) rs2105507958
NM_001165963.4(SCN1A):c.4260del (p.Phe1420fs)
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) rs121917913
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) rs863225035
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val) rs1060502190
NM_001165963.4(SCN1A):c.4269_4272del (p.Ser1424fs) rs1574004452
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
NM_001165963.4(SCN1A):c.427_430del (p.Val143fs) rs1699147493
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) rs878854263
NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp) rs121918627
NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala) rs121918627
NM_001165963.4(SCN1A):c.4284+1G>A rs1553524865
NM_001165963.4(SCN1A):c.4284+1G>T rs1553524865
NM_001165963.4(SCN1A):c.4284+2del rs2105507548
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr) rs796053008
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) rs2105487145
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu) rs1553523204
NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile) rs1690583220
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg) rs121917908
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) rs121918741
NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs) rs1699147493
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) rs794726699
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr) rs796053010
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) rs2105486716
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val) rs1559122124
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr) rs121917974
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val) rs2105486615
NM_001165963.4(SCN1A):c.4328A>G (p.Asp1443Gly)
NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr) rs1690572580
NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) rs1553523142
NM_001165963.4(SCN1A):c.4338+1G>A
NM_001165963.4(SCN1A):c.4338+4A>C rs794726734
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4338+5G>T
NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del)
NM_001165963.4(SCN1A):c.4339-1G>A rs1553522517
NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) rs794726696
NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala) rs794726696
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) rs121917945
NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys) rs1690345764
NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter) rs1573984787
NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys) rs1553522472
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys) rs1131691600
NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG (p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu) rs2105476619
NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs) rs1690342079
NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter)
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs) rs2105476550
NM_001165963.4(SCN1A):c.437C>G (p.Thr146Arg)
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) rs1559119345
NM_001165963.4(SCN1A):c.4393dup (p.Ile1465fs)
NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) rs794726809
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) rs2105476084
NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser) rs2105476040
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) rs1573984110
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs) rs2105475986
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val) rs121917996
NM_001165963.4(SCN1A):c.4441_4442del (p.Val1481fs) rs2105475874
NM_001165963.4(SCN1A):c.4444dup (p.Ile1482fs) rs1573984004
NM_001165963.4(SCN1A):c.4445T>A (p.Ile1482Asn)
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) rs1553522331
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) rs1553522321
NM_001165963.4(SCN1A):c.4473del (p.Lys1492fs) rs2105475598
NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)
NM_001165963.4(SCN1A):c.4476+1A>C
NM_001165963.4(SCN1A):c.4476+1A>G rs796053014
NM_001165963.4(SCN1A):c.4476+2T>C
NM_001165963.4(SCN1A):c.4476+5G>A rs1553522266
NM_001165963.4(SCN1A):c.4476_4476+2del
NM_001165963.4(SCN1A):c.4477-1C>T rs1553521567
NM_001165963.4(SCN1A):c.4477-2A>G rs863225036
NM_001165963.4(SCN1A):c.4477-3T>C rs1690013843
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
NM_001165963.4(SCN1A):c.4490del (p.Asp1497fs) rs1690011364
NM_001165963.4(SCN1A):c.449dup (p.Pro151fs)
NM_001165963.4(SCN1A):c.4501_4502insGAGAAGAA (p.Thr1501fs)
NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys)
NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys) rs1553521530
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His) rs1559114837
NM_001165963.4(SCN1A):c.4515_4516del (p.Lys1506fs) rs2105462303
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) rs750997506
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) rs796053019
NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer) rs1690001575
NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter)
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) rs1573973548
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) rs121918764
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg) rs796053020
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) rs139300715
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) rs794726835
NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) rs1553552319
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) rs794726825
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) rs796053021
NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser) rs796053021
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) rs372425457
NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs)
NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs) rs1689992185
NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs) rs1689990205
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4573_4581del (p.Arg1525_Gly1527del)
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg) rs796053022
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4581+2del rs1689985819
NM_001165963.4(SCN1A):c.4581+5G>A
NM_001165963.4(SCN1A):c.4581+5G>C rs1559114303
NM_001165963.4(SCN1A):c.4582-1G>C rs2105449923
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys) rs398123597
NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter)
NM_001165963.4(SCN1A):c.459G>A (p.Trp153Ter) rs1553552310
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) rs2105449751
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) rs794726757
NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly) rs1573964628
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4656T>A (p.Cys1552Ter) rs1553521051
NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg) rs1689707865
NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs) rs1559110846
NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter) rs1386425283
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) rs1573963975
NM_001165963.4(SCN1A):c.473+1G>A rs794726840
NM_001165963.4(SCN1A):c.473+1G>C rs794726840
NM_001165963.4(SCN1A):c.473+5G>A rs1064794634
NM_001165963.4(SCN1A):c.473+5G>C rs1064794634
NM_001165963.4(SCN1A):c.474-1G>A rs1698962501
NM_001165963.4(SCN1A):c.474-2A>G
NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) rs121918742
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) rs121917919
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr) rs1553520982
NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) rs764037830
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
NM_001165963.4(SCN1A):c.476dup (p.Tyr159Ter)
NM_001165963.4(SCN1A):c.477C>A (p.Tyr159Ter) rs748508725
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) rs1689682880
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs) rs1689680658
NM_001165963.4(SCN1A):c.478del (p.Thr160fs) rs2105902725
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp) rs1689679432
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) rs761333438
NM_001165963.4(SCN1A):c.480del (p.Phe161fs) rs2105902701
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) rs794726800
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) rs121917915
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs) rs794726785
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs) rs794726850
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4833dup (p.Val1612fs)
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr) rs2105447247
NM_001165963.4(SCN1A):c.4852+1G>A rs1573962555
NM_001165963.4(SCN1A):c.4852+1G>T rs1573962555
NM_001165963.4(SCN1A):c.4852+2T>C
NM_001165963.4(SCN1A):c.4852+5G>C
NM_001165963.4(SCN1A):c.4852G>C (p.Gly1618Arg)
NM_001165963.4(SCN1A):c.4853-1G>C rs1553520530
NM_001165963.4(SCN1A):c.4854_4855insTA (p.Met1619Ter)
NM_001165963.4(SCN1A):c.4855_4858dup (p.Phe1620fs)
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) rs1698960532
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) rs1573953706
NM_001165963.4(SCN1A):c.4875_4918dup (p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer) rs2105434895
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) rs794726701
NM_001165963.4(SCN1A):c.487_496del (p.Gly163fs) rs1698958802
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu)
NM_001165963.4(SCN1A):c.488G>A (p.Gly163Glu) rs1698959938
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) rs1573953030
NM_001165963.4(SCN1A):c.4915del (p.Arg1639fs)
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) rs796053029
NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr) rs2105434822
NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met) rs1573952908
NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser) rs1131691581
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) rs121917976
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) rs121918791
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro)
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) rs1553520446
NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val)
NM_001165963.4(SCN1A):c.495T>A (p.Tyr165Ter)
NM_001165963.4(SCN1A):c.495_496del (p.Thr166fs) rs1698958540
NM_001165963.4(SCN1A):c.4964_4965del (p.Gly1655fs) rs1573952473
NM_001165963.4(SCN1A):c.4966_4969dup (p.Arg1657fs) rs2105434276
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) rs121917955
NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs) rs1689347935
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys) rs121917922
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) rs121917922
NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro) rs1559105368
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro) rs1131691675
NM_001165963.4(SCN1A):c.4980_4981del (p.Phe1661fs) rs1559105301
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) rs794726839
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) rs794726819
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) rs794726760
NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs) rs2105433855
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro) rs1131691774
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) rs794726698
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) rs794726758
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr) rs2105433731
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) rs794726754
NM_001165963.4(SCN1A):c.5013dup (p.Asn1672Ter)
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) rs794726740
NM_001165963.4(SCN1A):c.5016del (p.Asn1672fs) rs2105433569
NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr) rs2105433516
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser) rs121918792
NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe) rs2105433326
NM_001165963.4(SCN1A):c.5035del (p.Phe1678_Leu1679insTer)
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) rs1553520380
NM_001165963.4(SCN1A):c.5045del (p.Phe1682fs) rs2105433161
NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr) rs2105433108
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys) rs1689321394
NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter) rs1433806086
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val) rs121918744
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg) rs2105432939
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) rs794726851
NM_001165963.4(SCN1A):c.506C>G (p.Ser169Ter) rs2105902476
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) rs794726748
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs) rs1689309551
NM_001165963.4(SCN1A):c.509_510del (p.Leu170fs) rs2105902424
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) rs794726804
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) rs794726802
NM_001165963.4(SCN1A):c.5108del (p.Asp1703fs) rs1689300152
NM_001165963.4(SCN1A):c.5120T>C (p.Phe1707Ser) rs2105432236
NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys)
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn) rs121918629
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile) rs121918816
NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg)
NM_001165963.4(SCN1A):c.5155_5205del (p.Gln1719_Asn1735del)
NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His) rs1689285717
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) rs1553520320
NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr)
NM_001165963.4(SCN1A):c.5170G>C (p.Ala1724Pro)
NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val) rs1553520319
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser) rs2105431458
NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His) rs1689278461
NM_001165963.4(SCN1A):c.517A>T (p.Ile173Phe)
NM_001165963.4(SCN1A):c.517dup (p.Ile173fs) rs2105902354
NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg)
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs) rs1553520298
NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu) rs2105431330
NM_001165963.4(SCN1A):c.518T>A (p.Ile173Asn)
NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu) rs2105431242
NM_001165963.4(SCN1A):c.5198_5201dup (p.Asn1735fs) rs2105431162
NM_001165963.4(SCN1A):c.5209_5210del (p.Lys1737fs) rs2105431024
NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs) rs1689272728
NM_001165963.4(SCN1A):c.5216C>G (p.Pro1739Arg) rs1689271621
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) rs1573949198
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) rs794726763
NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser) rs794726763
NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) rs1057518258
NM_001165963.4(SCN1A):c.524C>T (p.Ala175Val)
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) rs794726702
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) rs794726703
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) rs796053036
NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)
NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr) rs927722314
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) rs794726722
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr) rs1559103294
NM_001165963.4(SCN1A):c.5269G>A (p.Gly1757Arg) rs1553520227
NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg) rs1553520227
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu) rs1085307930
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs) rs796053085
NM_001165963.4(SCN1A):c.5281_5282del (p.Val1761fs)
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) rs794726814
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) rs121917950
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu) rs1689251604
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
NM_001165963.4(SCN1A):c.5296_5298del (p.Phe1766del) rs794726832
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) rs794726832
NM_001165963.4(SCN1A):c.5298dup (p.Val1767fs)
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp) rs2105429648
NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly) rs2105429627
NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)
NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_001165963.4(SCN1A):c.530_531insTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCNNNNNNNNNNAAAAAAAAAAAAAAATTATTGCAAGGGG (p.Phe178fs)
NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser) rs1253117981
NM_001165963.4(SCN1A):c.5315_5316insC (p.Ser1773fs) rs2105429444
NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro)
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr) rs121917951
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) rs121917951
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs) rs2105429397
NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser)
NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu)
NM_001165963.4(SCN1A):c.5323del (p.Leu1775fs)
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) rs2105429381
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) rs794726783
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) rs121917952
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) rs1689242255
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys) rs121918779
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) rs1689241423
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) rs121918763
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) rs121917921
NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) rs794726741
NM_001165963.4(SCN1A):c.5371_5372del (p.Val1791fs) rs2105428710
NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr) rs2105428686
NM_001165963.4(SCN1A):c.5379del (p.Glu1794fs) rs2105428629
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) rs121918813
NM_001165963.4(SCN1A):c.5383G>T (p.Glu1795Ter) rs121918813
NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg) rs1689228485
NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg) rs2105428344
NM_001165963.4(SCN1A):c.5399del (p.Leu1800fs) rs1573946994
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.539del (p.Cys179_Leu180insTer)
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) rs794726780
NM_001165963.4(SCN1A):c.541G>T (p.Glu181Ter)
NM_001165963.4(SCN1A):c.541del (p.Glu181fs) rs2105902170
NM_001165963.4(SCN1A):c.5426del (p.Tyr1809fs) rs1689218857
NM_001165963.4(SCN1A):c.5435G>C (p.Trp1812Ser) rs796053040
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) rs863225037
NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser) rs1689211569
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) rs794726781
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) rs1559101839
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) rs794726769
NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter) rs1553520107
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) rs1553520105
NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs)
NM_001165963.4(SCN1A):c.5485_5489del (p.Ser1829fs)
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) rs1553520103
NM_001165963.4(SCN1A):c.5488_5489del (p.Gln1830fs) rs1689200375
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs) rs1573945872
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) rs121918748
NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs) rs1559101585
NM_001165963.4(SCN1A):c.549_558del (p.Thr184fs)
NM_001165963.4(SCN1A):c.549dup (p.Thr184fs) rs1553551425
NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe)
NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del) rs797044983
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) rs1064795579
NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)
NM_001165963.4(SCN1A):c.5514_5525del (p.Leu1839_Pro1842del)
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) rs794726801
NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter) rs1553520078
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) rs1689190343
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) rs372098964
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs) rs2105426446
NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter) rs2105426467
NM_001165963.4(SCN1A):c.5547_5548insGC (p.Ile1850fs)
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001165963.4(SCN1A):c.5561dup (p.Leu1854fs) rs2105426198
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu) rs1057517958
NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg)
NM_001165963.4(SCN1A):c.5569del (p.Met1856_Val1857insTer)
NM_001165963.4(SCN1A):c.5576del (p.Gly1859fs) rs2105425898
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) rs760906812
NM_001165963.4(SCN1A):c.5594_5595dup (p.Asp1866fs) rs2105425687
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr) rs1131691773
NM_001165963.4(SCN1A):c.5602_5603insATCC (p.Leu1868fs)
NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)
NM_001165963.4(SCN1A):c.5613del (p.Phe1871fs)
NM_001165963.4(SCN1A):c.5636del (p.Ser1879fs) rs2105425094
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_001165963.4(SCN1A):c.564_571del (p.Asp188fs)
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) rs779614747
NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) rs794726845
NM_001165963.4(SCN1A):c.5662_5663del (p.Gln1888fs) rs2105424748
NM_001165963.4(SCN1A):c.566del (p.Pro189fs) rs1553551385
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5683del (p.Ala1895fs)
NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_001165963.4(SCN1A):c.5697del (p.Lys1900fs) rs1689156608
NM_001165963.4(SCN1A):c.5698A>T (p.Lys1900Ter)
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs) rs796053086
NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter)
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter) rs796053103
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs) rs2105424093
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) rs1553519902
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly)
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.573C>G (p.Asn191Lys)
NM_001165963.4(SCN1A):c.5741A>C (p.Gln1914Pro)
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe) rs796053048
NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs) rs1553519872
NM_001165963.4(SCN1A):c.5757_5770del (p.Val1920fs)
NM_001165963.4(SCN1A):c.575G>A (p.Trp192Ter) rs1698943949
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) rs121917981
NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter)
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.576G>A (p.Trp192Ter) rs1553551361
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) rs794726737
NM_001165963.4(SCN1A):c.5795del (p.Lys1932fs)
NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter) rs1351809843
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr) rs121917935
NM_001165963.4(SCN1A):c.5905_5908dup (p.Thr1970fs)
NM_001165963.4(SCN1A):c.591del (p.Ile198fs) rs1698941202
NM_001165963.4(SCN1A):c.596del (p.Thr199fs) rs2105901754
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1G>C rs794726827
NM_001165963.4(SCN1A):c.602+1G>T rs794726827
NM_001165963.4(SCN1A):c.602+1del rs2105901693
NM_001165963.4(SCN1A):c.602+3A>C rs794726833
NM_001165963.4(SCN1A):c.602+5G>C
NM_001165963.4(SCN1A):c.602C>A (p.Ala201Glu) rs1553551312
NM_001165963.4(SCN1A):c.603-1G>A rs796052959
NM_001165963.4(SCN1A):c.603-2A>C
NM_001165963.4(SCN1A):c.603-2A>G rs1057519531
NM_001165963.4(SCN1A):c.613G>T (p.Glu205Ter)
NM_001165963.4(SCN1A):c.626T>C (p.Leu209Pro)
NM_001165963.4(SCN1A):c.632del (p.Asn211fs)
NM_001165963.4(SCN1A):c.64_65del (p.Leu22fs)
NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) rs1553550574
NM_001165963.4(SCN1A):c.655_964+402del
NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) rs796052960
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs) rs1574272192
NM_001165963.4(SCN1A):c.659_662del (p.Val220fs) rs794726724
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) rs796053091
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.684del (p.Val229fs) rs1574271602
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs) rs1698732089
NM_001165963.4(SCN1A):c.693A>G (p.Pro231=)
NM_001165963.4(SCN1A):c.693A>T (p.Pro231=)
NM_001165963.4(SCN1A):c.694+1G>A
NM_001165963.4(SCN1A):c.694+5G>A rs727504142
NM_001165963.4(SCN1A):c.694+5G>C rs727504142
NM_001165963.4(SCN1A):c.703A>G (p.Thr235Ala)
NM_001165963.4(SCN1A):c.703del (p.Thr235fs)
NM_001165963.4(SCN1A):c.708del (p.Ile236fs)
NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_001165963.4(SCN1A):c.713G>T (p.Gly238Val) rs1574266490
NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_001165963.4(SCN1A):c.715_823del (p.Ala239fs) rs1698596974
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp) rs121917909
NM_001165963.4(SCN1A):c.716C>G (p.Ala239Gly) rs121917909
NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_001165963.4(SCN1A):c.733AAG[1] (p.Lys246del)
NM_001165963.4(SCN1A):c.740T>C (p.Leu247Pro) rs2105890490
NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_001165963.4(SCN1A):c.74_264+41del rs2105981661
NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer) rs794726751
NM_001165963.4(SCN1A):c.755T>C (p.Ile252Thr) rs121918780
NM_001165963.4(SCN1A):c.760_763dup (p.Val255fs)
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) rs886041961
NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter) rs76921794
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val) rs2105890052
NM_001165963.4(SCN1A):c.799C>T (p.Gln267Ter)
NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter)
NM_001165963.4(SCN1A):c.801del (p.Gln267fs)
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu) rs2105889917
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) rs1574265144
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) rs2105889854
NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) rs794726812
NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_001165963.4(SCN1A):c.829T>C (p.Cys277Arg)
NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter)
NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) rs1553549667
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) rs1553549660
NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg) rs796052964
NM_001165963.4(SCN1A):c.866A>T (p.Glu289Val) rs2105889320
NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs) rs794726788
NM_001165963.4(SCN1A):c.905del (p.Gly302fs) rs1574263819
NM_001165963.4(SCN1A):c.909A>G (p.Thr303=) rs1559237625
NM_001165963.4(SCN1A):c.911_912del (p.Leu304fs) rs2105888928
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer) rs2105888823
NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs) rs794726846
NM_001165963.4(SCN1A):c.931G>T (p.Glu311Ter)
NM_001165963.4(SCN1A):c.935T>C (p.Phe312Ser) rs886044441
NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) rs1553549483
NM_001165963.4(SCN1A):c.939del (p.Trp314fs)
NM_001165963.4(SCN1A):c.942G>A (p.Trp314Ter) rs1553549471
NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter)
NM_001165963.4(SCN1A):c.955C>T (p.Gln319Ter)
NM_001165963.4(SCN1A):c.964+14T>G rs794726837
NM_001165963.4(SCN1A):c.964+1G>A rs1574263047
NM_001165963.4(SCN1A):c.964+2_964+3insAAGATTCAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNAAAAAAAAAAAAAAAAAAAA
NM_001165963.4(SCN1A):c.964+424_2022del
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.965-2A>G
NM_001165963.4(SCN1A):c.965-5A>G rs1698198046
NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_001165963.4(SCN1A):c.969T>G (p.Tyr323Ter)
NM_001165963.4(SCN1A):c.970C>A (p.His324Asn)
NM_001165963.4(SCN1A):c.974A>G (p.Tyr325Cys) rs1698192456
NM_001165963.4(SCN1A):c.982G>T (p.Glu328Ter)
NM_001165963.4(SCN1A):c.984_986del (p.Glu328_Gly329delinsAsp) rs2105874408
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) rs781746113
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) rs779184118
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) rs779184118
NM_001165963.4(SCN1A):c.986del (p.Gly329fs) rs1698186316
NM_001165963.4(SCN1A):c.992del (p.Phe330_Leu331insTer)
NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) rs863225038
NM_001182.5(ALDH7A1):c.1061A>C (p.Tyr354Ser)
NM_001182.5(ALDH7A1):c.1072C>T (p.Arg358Ter) rs768233031
NM_001182.5(ALDH7A1):c.1092dup (p.Pro365_Asn366insTer)
NM_001182.5(ALDH7A1):c.1093+1G>A rs794727058
NM_001182.5(ALDH7A1):c.1093+2T>C
NM_001182.5(ALDH7A1):c.1112C>T (p.Pro371Leu)
NM_001182.5(ALDH7A1):c.112C>T (p.Gln38Ter)
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
NM_001182.5(ALDH7A1):c.1175del (p.Gly392fs)
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>C (p.Gly398Arg) rs1347421419
NM_001182.5(ALDH7A1):c.1192G>T (p.Gly398Trp)
NM_001182.5(ALDH7A1):c.1193G>T (p.Gly398Val) rs864622557
NM_001182.5(ALDH7A1):c.1196G>T (p.Gly399Val) rs1750101998
NM_001182.5(ALDH7A1):c.1200+1G>C
NM_001182.5(ALDH7A1):c.1216G>A (p.Gly406Arg)
NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter) rs121912710
NM_001182.5(ALDH7A1):c.1241dup (p.Thr415fs)
NM_001182.5(ALDH7A1):c.1280A>G (p.Glu427Gly) rs1311982393
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp) rs796052271
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs) rs753671880
NM_001182.5(ALDH7A1):c.130G>T (p.Glu44Ter) rs2112820022
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
NM_001182.5(ALDH7A1):c.1344T>A (p.Asn448Lys)
NM_001182.5(ALDH7A1):c.1348G>T (p.Glu450Ter) rs1749947130
NM_001182.5(ALDH7A1):c.1373G>A (p.Ser458Asn)
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe) rs186558364
NM_001182.5(ALDH7A1):c.1412_1415+9delinsGTTGGG rs1749943369
NM_001182.5(ALDH7A1):c.1415+1G>T
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)
NM_001182.5(ALDH7A1):c.1468del (p.Ala490fs) rs796052267
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001182.5(ALDH7A1):c.1489+2T>C
NM_001182.5(ALDH7A1):c.1524dup (p.Gly509fs)
NM_001182.5(ALDH7A1):c.1531G>A (p.Asp511Asn)
NM_001182.5(ALDH7A1):c.1553G>C (p.Arg518Thr)
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs) rs387906574
NM_001182.5(ALDH7A1):c.159C>T (p.Gly53=)
NM_001182.5(ALDH7A1):c.177G>A (p.Trp59Ter) rs1064794242
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter) rs760636660
NM_001182.5(ALDH7A1):c.191_192dup (p.Val65fs) rs796052270
NM_001182.5(ALDH7A1):c.192+3A>T rs773814169
NM_001182.5(ALDH7A1):c.234_235del (p.Arg79fs)
NM_001182.5(ALDH7A1):c.239T>G (p.Val80Gly)
NM_001182.5(ALDH7A1):c.244del (p.Gln82fs) rs1317880376
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs) rs758414053
NM_001182.5(ALDH7A1):c.296G>A (p.Trp99Ter)
NM_001182.5(ALDH7A1):c.312+1G>T
NM_001182.5(ALDH7A1):c.312+2T>A rs1561672504
NM_001182.5(ALDH7A1):c.312+2T>G
NM_001182.5(ALDH7A1):c.329GAG[1] (p.Gly111del)
NM_001182.5(ALDH7A1):c.388_518-1428del
NM_001182.5(ALDH7A1):c.393+2T>G
NM_001182.5(ALDH7A1):c.442C>T (p.Gln148Ter)
NM_001182.5(ALDH7A1):c.500del (p.Pro167fs)
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) rs2112802656
NM_001182.5(ALDH7A1):c.518-1G>C rs779494572
NM_001182.5(ALDH7A1):c.532_542del (p.Leu178fs) rs765119568
NM_001182.5(ALDH7A1):c.538dup (p.Glu180fs) rs2112794702
NM_001182.5(ALDH7A1):c.596C>T (p.Ala199Val) rs121912709
NM_001182.5(ALDH7A1):c.605G>A (p.Gly202Asp)
NM_001182.5(ALDH7A1):c.608G>A (p.Trp203Ter)
NM_001182.5(ALDH7A1):c.621_624del (p.Ile207_Ala208insTer)
NM_001182.5(ALDH7A1):c.692C>G (p.Thr231Arg)
NM_001182.5(ALDH7A1):c.695+2T>G
NM_001182.5(ALDH7A1):c.696-1G>T
NM_001182.5(ALDH7A1):c.813_814insAC (p.Phe272fs)
NM_001182.5(ALDH7A1):c.834G>C (p.Val278=) rs201948406
NM_001182.5(ALDH7A1):c.841C>T (p.Gln281Ter) rs1170817007
NM_001182.5(ALDH7A1):c.841del (p.Gln281fs)
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter) rs1204010423
NM_001182.5(ALDH7A1):c.871+1G>A
NM_001182.5(ALDH7A1):c.871+5G>A
NM_001182.5(ALDH7A1):c.902A>T (p.Asn301Ile) rs121912711
NM_001182.5(ALDH7A1):c.91_92del (p.Thr31fs) rs1751700395
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) rs778003597
NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) rs746212816
NM_001182.5(ALDH7A1):c.974C>G (p.Thr325Arg)
NM_001182.5(ALDH7A1):c.982C>T (p.Gln328Ter) rs1750309299
NM_001182.5(ALDH7A1):c.986G>A (p.Arg329Lys) rs864622558
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly) rs2147539926
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg) rs796052811
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu) rs796052811
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs) rs2147539848
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs) rs796052828
NM_001184880.2(PCDH19):c.1069G>T (p.Glu357Ter)
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs) rs758946412
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter) rs1239794408
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs) rs2147539591
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro) rs1928407939
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer) rs1569315042
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His) rs1928407149
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val) rs1555985306
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs) rs1928406047
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs) rs1928405402
NM_001184880.2(PCDH19):c.1153C>G (p.Gln385Glu) rs1928405180
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter) rs1928405180
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
NM_001184880.2(PCDH19):c.1170del (p.Asn391fs)
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs) rs1602636591
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter) rs769967221
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter) rs2147539395
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter) rs2147539378
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter) rs2147539361
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys) rs796052813
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs) rs886043572
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met) rs764650219
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter) rs1928398128
NM_001184880.2(PCDH19):c.1303_1304del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1305del (p.Ser435fs)
NM_001184880.2(PCDH19):c.1322T>A (p.Val441Glu) rs132630323
NM_001184880.2(PCDH19):c.132del (p.Asp45fs) rs1602638463
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp) rs2147539047
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn) rs1569314809
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs) rs1602638456
NM_001184880.2(PCDH19):c.1353del (p.His452fs) rs2147539018
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs) rs2147538939
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter) rs2147538918
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer) rs2147538910
NM_001184880.2(PCDH19):c.138_139delinsTT (p.Arg47Ter) rs1555985820
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs) rs1928388987
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs) rs2147538807
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs) rs1085307873
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs) rs2147538796
NM_001184880.2(PCDH19):c.142G>T (p.Glu48Ter) rs132630326
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs) rs2147538759
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs) rs1555985163
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs) rs1928383528
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs) rs2147538605
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs) rs1131691646
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter) rs779665170
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter) rs587784295
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter) rs1555985105
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
NM_001184880.2(PCDH19):c.158dup (p.Asp54fs)
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs) rs1602635781
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs) rs1928375176
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs) rs1928374520
NM_001184880.2(PCDH19):c.1657_2616+3340del
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs) rs2147538169
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala) rs1569314471
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu) rs796052819
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs) rs1602635656
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser) rs1928370474
NM_001184880.2(PCDH19):c.169C>T (p.Gln57Ter) rs1367823627
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) rs1928369132
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter) rs749662385
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs) rs2147537854
NM_001184880.2(PCDH19):c.1785C>A (p.Tyr595Ter)
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly) rs2147537831
NM_001184880.2(PCDH19):c.1793dup (p.Glu599fs)
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter) rs1928365677
NM_001184880.2(PCDH19):c.1804del (p.Arg602fs)
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.1849del (p.Glu616_Ile617insTer)
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter) rs796052820
NM_001184880.2(PCDH19):c.1867G>T (p.Glu623Ter)
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs) rs1928359639
NM_001184880.2(PCDH19):c.1914T>G (p.Tyr638Ter)
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs) rs796052835
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) rs1928355133
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs) rs2147537315
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
NM_001184880.2(PCDH19):c.200C>A (p.Ser67Ter) rs868762744
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter) rs132630325
NM_001184880.2(PCDH19):c.2030dup (p.Leu677fs) rs1569314152
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter) rs1928350631
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter) rs1928349391
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001184880.2(PCDH19):c.2147+1G>T rs1555984947
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter) rs2147534335
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
NM_001184880.2(PCDH19):c.2295del (p.Glu766fs)
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter) rs1471944316
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter) rs2147533439
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
NM_001184880.2(PCDH19):c.2391_2392del (p.Asp797fs) rs2147533347
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs) rs796052836
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg) rs1569316056
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
NM_001184880.2(PCDH19):c.244dup (p.Val82fs) rs1928471120
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs) rs1555984453
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs) rs1928224021
NM_001184880.2(PCDH19):c.2488_2489del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2490del (p.Ser830fs)
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs) rs2147533148
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter) rs132630324
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) rs1928217378
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs) rs2147533042
NM_001184880.2(PCDH19):c.2566C>T (p.Gln856Ter)
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) rs1928216298
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter) rs2147532974
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
NM_001184880.2(PCDH19):c.2587del (p.Asp862_Leu863insTer)
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
NM_001184880.2(PCDH19):c.2617-1G>A rs1602600561
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs) rs2147492697
NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs) rs34651888
NM_001184880.2(PCDH19):c.2640dup (p.Asn881fs)
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter) rs770935301
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485
NM_001184880.2(PCDH19):c.2662dup (p.His888fs) rs2147492627
NM_001184880.2(PCDH19):c.2675+1G>C
NM_001184880.2(PCDH19):c.2675+1G>T
NM_001184880.2(PCDH19):c.2675+2T>C
NM_001184880.2(PCDH19):c.2676-6A>G rs1602595136
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs) rs1602595101
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) rs1926264984
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter) rs2147485040
NM_001184880.2(PCDH19):c.2848+1G>A
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs) rs2147542264
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs) rs2147542217
NM_001184880.2(PCDH19):c.3044dup (p.Ala1016fs)
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs) rs1602566823
NM_001184880.2(PCDH19):c.344_345del (p.Ile115fs)
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala) rs1928463633
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His) rs796052797
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser) rs398123603
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser) rs1928462873
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs) rs1928462092
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile) rs2147543046
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter) rs759398718
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter) rs1555985689
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser) rs1928459143
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His) rs796052800
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs) rs1928457666
NM_001184880.2(PCDH19):c.473C>G (p.Ser158Ter) rs796052801
NM_001184880.2(PCDH19):c.476del (p.Gly159fs) rs1928457396
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter) rs1555985639
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter) rs797045873
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro) rs2147541749
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer) rs2147541733
NM_001184880.2(PCDH19):c.506del (p.Thr169fs) rs2147541704
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter) rs1928454112
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter) rs2147542870
NM_001184880.2(PCDH19):c.533del (p.Ile178fs) rs1928452385
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter) rs1602637774
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs) rs2147542837
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
NM_001184880.2(PCDH19):c.564del (p.Glu189fs) rs1928449770
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter) rs2147541401
NM_001184880.2(PCDH19):c.581del (p.Lys194fs) rs1928448324
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly) rs2147541373
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) rs1928445406
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001184880.2(PCDH19):c.619del (p.Arg207fs) rs1555985543
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu) rs2147541121
NM_001184880.2(PCDH19):c.659del (p.Gly220fs) rs1928441222
NM_001184880.2(PCDH19):c.670del (p.Ser225fs) rs1602637452
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter) rs1928440191
NM_001184880.2(PCDH19):c.687del (p.Asp230fs) rs1928439511
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn) rs1928439241
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys) rs796052807
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp) rs1928438552
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr) rs1555985475
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser) rs1928437614
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg) rs1060502176
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu) rs1060502176
NM_001184880.2(PCDH19):c.714del (p.Phe238fs) rs2147540836
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter) rs1166554052
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly) rs2147540751
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter) rs1057524751
NM_001184880.2(PCDH19):c.805del (p.Thr269fs) rs796052827
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs) rs2147540522
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) rs794726897
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs) rs1928426655
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) rs1928424443
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del) rs1569315403
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs) rs2147540431
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs) rs1928424117
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter) rs1555985427
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs) rs1555985416
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs) rs2147540245
NM_001184880.2(PCDH19):c.883del (p.Ser295fs) rs2147540261
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter) rs1569315231
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys) rs796052794
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs) rs2147542719
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter) rs1602636952
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter) rs2147540086
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr) rs2147540049
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter) rs1928479952
NM_001184880.2(PCDH19):c.986_987del (p.His329fs)
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
NM_001184880.2(PCDH19):c.994del (p.Val332fs) rs1569315156
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter) rs936639741
NM_001191061.2(SLC25A22):c.328G>C (p.Gly110Arg) rs587777243
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) rs1554965669
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter) rs797045969
NM_001191061.2(SLC25A22):c.420del (p.Arg141fs) rs2133702082
NM_001191061.2(SLC25A22):c.439C>T (p.Gln147Ter)
NM_001191061.2(SLC25A22):c.452C>A (p.Ser151Ter)
NM_001191061.2(SLC25A22):c.4del (p.Ala2fs)
NM_001191061.2(SLC25A22):c.658G>T (p.Glu220Ter)
NM_001191061.2(SLC25A22):c.706G>T (p.Gly236Trp) rs121918335
NM_001191061.2(SLC25A22):c.760C>T (p.Gln254Ter)
NM_001191061.2(SLC25A22):c.813_814del (p.Ala272fs) rs1565035177
NM_001191061.2(SLC25A22):c.818G>A (p.Arg273Lys) rs1195505218
NM_001191061.2(SLC25A22):c.8_12del (p.Asp3fs)
NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)
NM_001199107.1(TBC1D24):c.969_970delGT rs398122941
NM_001199107.2(TBC1D24):c.1078del (p.Arg360fs)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs) rs1205407936
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro) rs770363653
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His) rs760474458
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1235G>A (p.Trp412Ter)
NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) rs1567411053
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)
NM_001199107.2(TBC1D24):c.1384del (p.Glu462fs)
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs) rs2141877166
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)
NM_001199107.2(TBC1D24):c.1501G>A (p.Gly501Arg) rs1596973014
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter) rs746057710
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)
NM_001199107.2(TBC1D24):c.309dup (p.Tyr104fs)
NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) rs267607103
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.445dup (p.Ala149fs)
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.540C>A (p.Cys180Ter)
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs) rs2141870681
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter) rs2141872114
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.715del (p.Val239fs) rs2141872348
NM_001199107.2(TBC1D24):c.751T>C (p.Phe251Leu) rs267607104
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs) rs2141872499
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) rs1555501320
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter) rs2065755770
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu) rs778291283
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser) rs869312920
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001205293.3(CACNA1E):c.2104G>T (p.Ala702Ser)
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln) rs2102682130
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg) rs1037878155
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs) rs1601970168
NM_001242896.3(DEPDC5):c.1093_1103del (p.Asp365fs)
NM_001242896.3(DEPDC5):c.1111G>T (p.Glu371Ter)
NM_001242896.3(DEPDC5):c.1121_1122dup (p.His375fs) rs2087209471
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs) rs879255234
NM_001242896.3(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242896.3(DEPDC5):c.1139del (p.Phe380fs) rs2148649693
NM_001242896.3(DEPDC5):c.1143+2T>C
NM_001242896.3(DEPDC5):c.1155del (p.Ser386fs)
NM_001242896.3(DEPDC5):c.1191T>A (p.Tyr397Ter) rs1320510912
NM_001242896.3(DEPDC5):c.1206G>A (p.Trp402Ter)
NM_001242896.3(DEPDC5):c.1212_1213delinsGGTT (p.Asn404fs)
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1218-1G>C rs2087504321
NM_001242896.3(DEPDC5):c.1224C>A (p.Tyr408Ter) rs1602010382
NM_001242896.3(DEPDC5):c.1235del (p.Ser412fs)
NM_001242896.3(DEPDC5):c.1237C>T (p.Gln413Ter)
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter) rs757511744
NM_001242896.3(DEPDC5):c.1366C>T (p.Gln456Ter) rs2148707379
NM_001242896.3(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242896.3(DEPDC5):c.1397del (p.Val466fs)
NM_001242896.3(DEPDC5):c.1401del (p.Phe467fs) rs2148707724
NM_001242896.3(DEPDC5):c.1431C>A (p.Cys477Ter) rs2148708041
NM_001242896.3(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242896.3(DEPDC5):c.1465_1466del (p.His490fs)
NM_001242896.3(DEPDC5):c.147-2A>C rs2148027312
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1488del (p.Ser497fs)
NM_001242896.3(DEPDC5):c.1493_1500del (p.Cys498fs)
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.158del (p.Leu53fs) rs2148027425
NM_001242896.3(DEPDC5):c.1687G>T (p.Glu563Ter)
NM_001242896.3(DEPDC5):c.1699C>T (p.Arg567Ter)
NM_001242896.3(DEPDC5):c.1707del (p.Ser570fs)
NM_001242896.3(DEPDC5):c.1736_1743del (p.Ser579fs) rs2148801562
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs) rs2148027688
NM_001242896.3(DEPDC5):c.1774_1775del (p.Thr592fs)
NM_001242896.3(DEPDC5):c.178_181del (p.Glu60fs)
NM_001242896.3(DEPDC5):c.178del (p.Glu60fs) rs2148027711
NM_001242896.3(DEPDC5):c.1800del (p.Phe601fs) rs2148802008
NM_001242896.3(DEPDC5):c.1834_1835del (p.Ser612fs)
NM_001242896.3(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter) rs372718805
NM_001242896.3(DEPDC5):c.1891C>T (p.Gln631Ter) rs2148821385
NM_001242896.3(DEPDC5):c.193+1G>A rs886039245
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs) rs1569012755
NM_001242896.3(DEPDC5):c.1948del (p.Asp650fs)
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs) rs2082694133
NM_001242896.3(DEPDC5):c.2023C>T (p.Gln675Ter)
NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs) rs2148103087
NM_001242896.3(DEPDC5):c.2094dup (p.Ser699fs) rs2148830445
NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter) rs2148103123
NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs) rs2148103177
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001242896.3(DEPDC5):c.2196dup (p.Val733fs) rs2148952560
NM_001242896.3(DEPDC5):c.2275_2281del (p.Tyr759fs) rs2148953095
NM_001242896.3(DEPDC5):c.2290del (p.Gln764fs)
NM_001242896.3(DEPDC5):c.2304_2305dup (p.Asp769fs) rs2148953333
NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2325T>A (p.Tyr775Ter) rs374158137
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)
NM_001242896.3(DEPDC5):c.2355-2A>G rs797044545
NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.3(DEPDC5):c.2433C>A (p.Tyr811Ter)
NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter) rs2148103774
NM_001242896.3(DEPDC5):c.2489_2511del (p.Leu830fs) rs2148968890
NM_001242896.3(DEPDC5):c.2489del (p.Leu830fs) rs2148968909
NM_001242896.3(DEPDC5):c.248_249del (p.Gln83fs)
NM_001242896.3(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp) rs1555897392
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2548dup (p.Asp850fs) rs2149004143
NM_001242896.3(DEPDC5):c.2591_2592insCA (p.Leu865fs)
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter) rs578185749
NM_001242896.3(DEPDC5):c.2690C>A (p.Ser897Ter)
NM_001242896.3(DEPDC5):c.2702_2705del (p.Phe901fs)
NM_001242896.3(DEPDC5):c.2768_2775del (p.Gln923fs) rs2149009589
NM_001242896.3(DEPDC5):c.279+1G>A rs886039246
NM_001242896.3(DEPDC5):c.279+1G>C rs886039246
NM_001242896.3(DEPDC5):c.280-1G>A rs1556526609
NM_001242896.3(DEPDC5):c.280-2A>G rs2148127827
NM_001242896.3(DEPDC5):c.2826G>A (p.Trp942Ter) rs2091643419
NM_001242896.3(DEPDC5):c.2856T>A (p.Cys952Ter) rs115299174
NM_001242896.3(DEPDC5):c.2857_2858del (p.Val953fs) rs2091645809
NM_001242896.3(DEPDC5):c.2887dup (p.Glu963fs) rs2149024046
NM_001242896.3(DEPDC5):c.2894_2919del (p.His965fs) rs1555900914
NM_001242896.3(DEPDC5):c.2898C>A (p.Cys966Ter) rs748986619
NM_001242896.3(DEPDC5):c.2907T>G (p.Tyr969Ter)
NM_001242896.3(DEPDC5):c.2940G>A (p.Trp980Ter)
NM_001242896.3(DEPDC5):c.2958_2959insTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATGGTTTT (p.Val987delinsPhePhePhePhePheXaaXaaXaaXaaPhePhePhePhePhePhePhePhePheTer) rs2149024566
NM_001242896.3(DEPDC5):c.2989del (p.Arg997fs) rs2149024925
NM_001242896.3(DEPDC5):c.2994del (p.Arg998fs)
NM_001242896.3(DEPDC5):c.3005C>A (p.Ser1002Ter) rs2149025148
NM_001242896.3(DEPDC5):c.3021+1G>A rs2091657024
NM_001242896.3(DEPDC5):c.3021+2T>G
NM_001242896.3(DEPDC5):c.305dup (p.Leu102fs) rs2148128199
NM_001242896.3(DEPDC5):c.3095del (p.Pro1032fs) rs2091769406
NM_001242896.3(DEPDC5):c.3159C>A (p.Cys1053Ter) rs1162414657
NM_001242896.3(DEPDC5):c.3176_3177del (p.Ala1059fs)
NM_001242896.3(DEPDC5):c.319C>T (p.Gln107Ter) rs2082841677
NM_001242896.3(DEPDC5):c.3205C>T (p.Gln1069Ter) rs2149117486
NM_001242896.3(DEPDC5):c.324T>G (p.Tyr108Ter) rs2148128349
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3260dup (p.Asp1089fs)
NM_001242896.3(DEPDC5):c.3278_3279del (p.Phe1093fs)
NM_001242896.3(DEPDC5):c.327del (p.Ile109fs) rs2148128390
NM_001242896.3(DEPDC5):c.338del (p.Asp113fs)
NM_001242896.3(DEPDC5):c.3436C>T (p.Gln1146Ter) rs2092816377
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3449_3450del (p.Glu1150fs) rs2149231471
NM_001242896.3(DEPDC5):c.344G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3451C>T (p.Gln1151Ter)
NM_001242896.3(DEPDC5):c.345G>A (p.Trp115Ter)
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3547del (p.Ala1183fs) rs1569166925
NM_001242896.3(DEPDC5):c.3564-1G>C
NM_001242896.3(DEPDC5):c.3578del (p.Leu1193fs) rs1309891064
NM_001242896.3(DEPDC5):c.357_358del (p.Ser120fs)
NM_001242896.3(DEPDC5):c.3612C>A (p.Cys1204Ter)
NM_001242896.3(DEPDC5):c.3638G>A (p.Trp1213Ter) rs2149256695
NM_001242896.3(DEPDC5):c.3641_3644del (p.Trp1213_Leu1214insTer)
NM_001242896.3(DEPDC5):c.3655dup (p.Glu1219fs) rs2092933941
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) rs2092986219
NM_001242896.3(DEPDC5):c.3717dup (p.Ile1240fs) rs2149267082
NM_001242896.3(DEPDC5):c.3723dup (p.His1242fs) rs2149267113
NM_001242896.3(DEPDC5):c.3737_3746del (p.Glu1246fs)
NM_001242896.3(DEPDC5):c.3774C>G (p.Tyr1258Ter)
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter) rs886039268
NM_001242896.3(DEPDC5):c.3868C>T (p.Gln1290Ter) rs1569186093
NM_001242896.3(DEPDC5):c.3901G>T (p.Glu1301Ter)
NM_001242896.3(DEPDC5):c.3926del (p.Pro1309fs)
NM_001242896.3(DEPDC5):c.3945G>A (p.Trp1315Ter)
NM_001242896.3(DEPDC5):c.3987_3988insA (p.Phe1330fs)
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4031T>G (p.Leu1344Ter)
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) rs2093486364
NM_001242896.3(DEPDC5):c.4085del (p.Asn1362fs)
NM_001242896.3(DEPDC5):c.4102G>T (p.Glu1368Ter)
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter) rs587776975
NM_001242896.3(DEPDC5):c.4122C>A (p.Tyr1374Ter) rs939021094
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242896.3(DEPDC5):c.4204-2A>G
NM_001242896.3(DEPDC5):c.4207C>T (p.Gln1403Ter) rs1602903591
NM_001242896.3(DEPDC5):c.4214G>A (p.Trp1405Ter)
NM_001242896.3(DEPDC5):c.4242_4243dup (p.Leu1415fs) rs2149397188
NM_001242896.3(DEPDC5):c.4287C>A (p.Tyr1429Ter)
NM_001242896.3(DEPDC5):c.4290del (p.Tyr1431fs) rs2149397518
NM_001242896.3(DEPDC5):c.4291_4294del (p.Tyr1431fs) rs2093575654
NM_001242896.3(DEPDC5):c.4303dup (p.Leu1435fs)
NM_001242896.3(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242896.3(DEPDC5):c.4357dup (p.Ser1453fs) rs2149397818
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter) rs886039273
NM_001242896.3(DEPDC5):c.4398G>A (p.Trp1466Ter) rs2149419668
NM_001242896.3(DEPDC5):c.4402C>T (p.Arg1468Ter) rs1016477183
NM_001242896.3(DEPDC5):c.4420G>T (p.Glu1474Ter)
NM_001242896.3(DEPDC5):c.4446dup (p.Val1483fs) rs1603014297
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.4501_4502dup (p.Gln1501fs) rs1569254004
NM_001242896.3(DEPDC5):c.4508_4511dup (p.Val1505fs)
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.451del (p.Val151fs)
NM_001242896.3(DEPDC5):c.4530del (p.Leu1511fs) rs2093755806
NM_001242896.3(DEPDC5):c.4544_4545del (p.Tyr1515fs)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter) rs797044546
NM_001242896.3(DEPDC5):c.4570C>T (p.Gln1524Ter)
NM_001242896.3(DEPDC5):c.4630del (p.Val1544fs) rs1569255443
NM_001242896.3(DEPDC5):c.4638del (p.Gly1545_Tyr1546insTer)
NM_001242896.3(DEPDC5):c.4650C>G (p.Tyr1550Ter) rs2093758918
NM_001242896.3(DEPDC5):c.4671_4672del (p.Trp1558fs) rs2149449522
NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter) rs2149449539
NM_001242896.3(DEPDC5):c.4674G>A (p.Trp1558Ter)
NM_001242896.3(DEPDC5):c.4689_4690del (p.Gly1564_Asp1565insTer) rs2149449670
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del) rs587776974
NM_001242896.3(DEPDC5):c.492dup (p.Arg165fs)
NM_001242896.3(DEPDC5):c.522_525del (p.Ile175fs)
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter) rs886039251
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
NM_001242896.3(DEPDC5):c.562+1G>A rs1057524233
NM_001242896.3(DEPDC5):c.562+1G>T
NM_001242896.3(DEPDC5):c.624+1G>A rs886039252
NM_001242896.3(DEPDC5):c.632del (p.Asn211fs)
NM_001242896.3(DEPDC5):c.674dup (p.Tyr226fs)
NM_001242896.3(DEPDC5):c.677dup (p.Tyr226Ter) rs2085727988
NM_001242896.3(DEPDC5):c.678T>G (p.Tyr226Ter)
NM_001242896.3(DEPDC5):c.697G>T (p.Glu233Ter)
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.722C>G (p.Ser241Ter)
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter) rs886039253
NM_001242896.3(DEPDC5):c.765C>G (p.Tyr255Ter)
NM_001242896.3(DEPDC5):c.767+1G>A rs2148514247
NM_001242896.3(DEPDC5):c.784G>T (p.Glu262Ter)
NM_001242896.3(DEPDC5):c.788_789del (p.Arg263fs) rs1569523728
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.800G>A (p.Trp267Ter) rs2148574616
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.832_833del (p.Phe278fs) rs2086398901
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242896.3(DEPDC5):c.862G>T (p.Glu288Ter) rs770620001
NM_001242896.3(DEPDC5):c.862del (p.Glu288fs) rs2148575334
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.3(DEPDC5):c.883C>T (p.Gln295Ter) rs2148587476
NM_001242896.3(DEPDC5):c.907del (p.Gln303fs)
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter) rs886039256
NM_001242896.3(DEPDC5):c.936_937dup (p.Ser313fs)
NM_001242896.3(DEPDC5):c.938C>G (p.Ser313Ter)
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter) rs587776977
NM_001242896.3(DEPDC5):c.991C>T (p.Gln331Ter)
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
NM_001271.4(CHD2):c.1032dup (p.Glu345fs) rs2053406905
NM_001271.4(CHD2):c.1052+1G>T
NM_001271.4(CHD2):c.1052+2T>C rs2141787733
NM_001271.4(CHD2):c.1053-1G>C rs2141790977
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter) rs2053431103
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1144dup (p.Arg382fs)
NM_001271.4(CHD2):c.1153+3_1153+19del rs2141791104
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
NM_001271.4(CHD2):c.121del (p.Gln41fs)
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter) rs2141802487
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter) rs1567138301
NM_001271.4(CHD2):c.1497del (p.Trp499fs) rs2141802578
NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) rs1555437424
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
NM_001271.4(CHD2):c.1541dup (p.Thr516fs) rs2053579191
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs) rs2141811616
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs) rs886041628
NM_001271.4(CHD2):c.1663_1664insC (p.Trp555fs)
NM_001271.4(CHD2):c.1719+1G>A
NM_001271.4(CHD2):c.1719G>A (p.Thr573=) rs1057519228
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs) rs2053606835
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer) rs2141814886
NM_001271.4(CHD2):c.1809+1del rs397514739
NM_001271.4(CHD2):c.1810-2A>C rs398122999
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs) rs2141816511
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter) rs2141816525
NM_001271.4(CHD2):c.1858del (p.His620fs)
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp) rs1064795815
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs) rs2141816549
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter) rs1555440885
NM_001271.4(CHD2):c.1883del (p.Leu628fs) rs2141816557
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
NM_001271.4(CHD2):c.1894dup (p.Thr632fs) rs2053619207
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs) rs2053619257
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met) rs2053619460
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
NM_001271.4(CHD2):c.2032dup (p.His678fs)
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2105A>G (p.Lys702Arg)
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
NM_001271.4(CHD2):c.2159_2166dup (p.Ala723fs)
NM_001271.4(CHD2):c.2165C>A (p.Ser722Ter)
NM_001271.4(CHD2):c.2211C>A (p.Tyr737Ter)
NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly) rs2141839141
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter) rs2141839141
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs) rs2141843174
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter) rs1085308000
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu) rs2141843235
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly) rs1567149943
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter) rs1567149943
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2731A>G (p.Asn911Asp)
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile) rs2141844210
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2767dup (p.Glu923fs) rs2141844219
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter) rs2141844243
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs) rs2141844251
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
NM_001271.4(CHD2):c.2882del (p.Asn961fs)
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs) rs2141846356
NM_001271.4(CHD2):c.2899dup (p.Glu967fs)
NM_001271.4(CHD2):c.294+3A>G rs2141746246
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer) rs1064796496
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter) rs2141850583
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
NM_001271.4(CHD2):c.3169del (p.Glu1057fs)
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs) rs2054015565
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3199dup (p.Ile1067fs)
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3257_3258del (p.Asp1086fs)
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs) rs2141851950
NM_001271.4(CHD2):c.3277_3278del (p.Arg1093fs)
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer) rs2141851983
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter) rs777803897
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs) rs2141852009
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter) rs1057518128
NM_001271.4(CHD2):c.3412del (p.Arg1138fs) rs2141852057
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp) rs1596443241
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
NM_001271.4(CHD2):c.3610A>T (p.Lys1204Ter)
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer) rs2141867280
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
NM_001271.4(CHD2):c.3735del (p.Lys1245fs) rs752940775
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter) rs1555444603
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
NM_001271.4(CHD2):c.3917del (p.Gln1306fs)
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter) rs2054212444
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln) rs1131692012
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro) rs1131692012
NM_001271.4(CHD2):c.395dup (p.Ser132_Glu133insTer)
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) rs1246923304
NM_001271.4(CHD2):c.4026dup (p.Lys1343fs)
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs) rs749969667
NM_001271.4(CHD2):c.4173del (p.Lys1391fs) rs749969667
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) rs3210462
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs) rs2141873663
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs) rs2141873672
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer) rs2141876515
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
NM_001271.4(CHD2):c.442C>T (p.Gln148Ter)
NM_001271.4(CHD2):c.443+3_443+6del rs2141755356
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
NM_001271.4(CHD2):c.4515C>A (p.Cys1505Ter)
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter) rs2141881688
NM_001271.4(CHD2):c.462_470delinsGATGAACAGG (p.Pro155fs)
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter) rs1064796449
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs) rs1555445685
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) rs1555445693
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter) rs864309548
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs) rs2054514265
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs) rs2054514589
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs) rs2141895289
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter) rs751251777
NM_001271.4(CHD2):c.5153+1G>T rs761115271
NM_001271.4(CHD2):c.5153+2T>C
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001271.4(CHD2):c.617del (p.Asp206fs)
NM_001271.4(CHD2):c.625del (p.Asp209fs)
NM_001271.4(CHD2):c.628G>T (p.Glu210Ter) rs1567133726
NM_001271.4(CHD2):c.654dup (p.Lys219fs) rs2141778479
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter) rs2053326002
NM_001271.4(CHD2):c.693-2A>G rs886039708
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.747_748del (p.Gly250fs) rs2053387971
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter) rs2141785162
NM_001271.4(CHD2):c.847del (p.Val283fs)
NM_001271.4(CHD2):c.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.938_948del (p.Gly313fs) rs2141787520
NM_001271.4(CHD2):c.938del (p.Gly313fs)
NM_001271.4(CHD2):c.948C>A (p.Tyr316Ter) rs1423903266
NM_001271.4(CHD2):c.973G>T (p.Glu325Ter)
NM_001271.4(CHD2):c.975del (p.Glu325fs) rs2141787589
NM_001278512.2(AP3B2):c.1110+1G>C rs1057519270
NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) rs1057519269
NM_001278512.2(AP3B2):c.1489-245_1665+2029del
NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) rs1057519272
NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) rs775024756
NM_001278512.2(AP3B2):c.2261+2T>C rs1555464774
NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) rs1057519271
NM_001278512.2(AP3B2):c.2929C>T (p.Arg977Ter)
NM_001278512.2(AP3B2):c.445_448del (p.Ala149fs) rs1369308468
NM_001278512.2(AP3B2):c.641delinsATG (p.Ile214fs)
NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter) rs1215589381
NM_001286615.2(ANO4):c.1582G>A (p.Val528Met)
NM_001286615.2(ANO4):c.1674C>A (p.Asn558Lys)
NM_001286615.2(ANO4):c.1684A>T (p.Ile562Phe)
NM_001286615.2(ANO4):c.1688T>A (p.Met563Lys)
NM_001286615.2(ANO4):c.1807A>G (p.Asn603Asp)
NM_001286615.2(ANO4):c.387C>G (p.Asn129Lys)
NM_001320643.3(LOC102724428):c.379C>T (p.Arg127Trp) rs1555841977
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_001323289.2(CDKL5):c.100G>T (p.Glu34Ter)
NM_001323289.2(CDKL5):c.1011dup (p.His338fs) rs2147160162
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_001323289.2(CDKL5):c.1053_1056dup (p.Leu353fs) rs2147160237
NM_001323289.2(CDKL5):c.1066dup (p.Ala356fs) rs2147160283
NM_001323289.2(CDKL5):c.106_107del (p.Thr35_His36insTer) rs2147132223
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) rs1926261579
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) rs1602286005
NM_001323289.2(CDKL5):c.1103dup (p.Asn368fs) rs1926262196
NM_001323289.2(CDKL5):c.1106del (p.Gly369fs)
NM_001323289.2(CDKL5):c.1166_1169del (p.Gln389fs)
NM_001323289.2(CDKL5):c.1180_1181dup (p.Ser394fs)
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1208del (p.Pro403fs)
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1287dup (p.Gly430fs)
NM_001323289.2(CDKL5):c.1321C>T (p.Gln441Ter)
NM_001323289.2(CDKL5):c.1330_1342del (p.Arg444fs)
NM_001323289.2(CDKL5):c.1337C>G (p.Ser446Ter)
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1415_1416del (p.Thr472fs)
NM_001323289.2(CDKL5):c.1419del (p.Gln475fs) rs2147160726
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer) rs2147160749
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.1452del (p.Lys485fs)
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.146-1G>T
NM_001323289.2(CDKL5):c.1485dup (p.Lys496fs) rs1926283743
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter) rs1926283887
NM_001323289.2(CDKL5):c.1506dup (p.Glu503Ter)
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.154G>T (p.Glu52Ter) rs1925261282
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.1584dup (p.Ser529fs) rs2147160886
NM_001323289.2(CDKL5):c.163G>T (p.Glu55Ter)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.1686del (p.Arg563fs) rs2147161009
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.173_174insGGCCCGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTATGGAGGCCGAGGCGGGCGGATCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAACGACTTT (p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer)
NM_001323289.2(CDKL5):c.1741del (p.His581fs)
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1755_1756del (p.Ser586fs) rs1926298521
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs) rs1926298368
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.1790del (p.Gly597fs)
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs) rs1926303951
NM_001323289.2(CDKL5):c.1883del (p.Ser628fs) rs1926305134
NM_001323289.2(CDKL5):c.1896del (p.Gln633fs) rs2147161299
NM_001323289.2(CDKL5):c.1927C>T (p.Gln643Ter) rs2147161353
NM_001323289.2(CDKL5):c.194G>C (p.Arg65Pro) rs267608436
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.1994_1997del (p.Lys665fs)
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2009_2012dup (p.Thr672fs)
NM_001323289.2(CDKL5):c.200_201del (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2026del (p.His676fs) rs1926450614
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.2072_2073del (p.His690_Ser691insTer) rs2147164676
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2091del (p.Glu699fs)
NM_001323289.2(CDKL5):c.2105_2106del (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2152+1G>C
NM_001323289.2(CDKL5):c.2152+1G>T
NM_001323289.2(CDKL5):c.2152+2T>G
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.217G>A (p.Val73Met) rs2147139605
NM_001323289.2(CDKL5):c.2182del (p.His728fs) rs1926616715
NM_001323289.2(CDKL5):c.2197_2204dup (p.Arg735fs) rs1926617807
NM_001323289.2(CDKL5):c.2201_2204dup (p.Arg735delinsSerTer) rs2147167570
NM_001323289.2(CDKL5):c.2227_2228del (p.Ser743fs) rs2147167604
NM_001323289.2(CDKL5):c.2247_2250dup (p.Lys751fs)
NM_001323289.2(CDKL5):c.2255_2259dup (p.Pro754fs)
NM_001323289.2(CDKL5):c.2256_2263del (p.Arg752fs) rs1926620965
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.2276+1G>T
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.2277G>A (p.Trp759Ter)
NM_001323289.2(CDKL5):c.229_232del (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2325_2326del (p.Lys776fs) rs267608654
NM_001323289.2(CDKL5):c.2325_2326dup (p.Lys776fs)
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs) rs1602295727
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs) rs1926837956
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.2371C>T (p.Gln791Ter) rs1926838663
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2376+2T>A
NM_001323289.2(CDKL5):c.2398del (p.Asp800fs)
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001323289.2(CDKL5):c.2463del (p.Trp821fs) rs2147175902
NM_001323289.2(CDKL5):c.2464del (p.Arg822fs)
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2529dup (p.His844fs)
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter) rs1927139054
NM_001323289.2(CDKL5):c.2579_2582dup (p.Leu862fs) rs2147178955
NM_001323289.2(CDKL5):c.258C>A (p.Tyr86Ter)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2606del (p.Asn869fs) rs2147178971
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter) rs1057519541
NM_001323289.2(CDKL5):c.2668del (p.Arg890fs)
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs) rs1927142990
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.2693_2694del (p.Arg898fs) rs2147179071
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter) rs1602300816
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.282+1G>A rs1569213054
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.301G>T (p.Glu101Ter)
NM_001323289.2(CDKL5):c.308del (p.Met103fs) rs2147142599
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.351T>G (p.Tyr117Ter)
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.401G>C (p.Arg134Pro)
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-1G>A rs267608474
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.404-6C>G
NM_001323289.2(CDKL5):c.412C>G (p.Pro138Ala) rs1925492354
NM_001323289.2(CDKL5):c.416A>C (p.Glu139Ala)
NM_001323289.2(CDKL5):c.424T>G (p.Leu142Val) rs1925493252
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.450del (p.Lys150fs) rs2147144049
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.463+1G>T rs267608479
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.463G>A (p.Gly155Ser)
NM_001323289.2(CDKL5):c.464-2A>C rs267608480
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.464-3C>G
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro) rs2147145500
NM_001323289.2(CDKL5):c.46del (p.Val18fs)
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs) rs1925573011
NM_001323289.2(CDKL5):c.503dup (p.Tyr168Ter)
NM_001323289.2(CDKL5):c.506_507del (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.513C>G (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.515T>G (p.Val172Gly)
NM_001323289.2(CDKL5):c.523A>G (p.Arg175Gly) rs1925574557
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) rs2147145565
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.52dup (p.Val18fs)
NM_001323289.2(CDKL5):c.532C>G (p.Arg178Gly) rs267608493
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.533G>T (p.Arg178Leu)
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.554+2T>C
NM_001323289.2(CDKL5):c.554+4A>G rs2147145614
NM_001323289.2(CDKL5):c.554+5G>A rs1925577525
NM_001323289.2(CDKL5):c.578A>C (p.Asp193Ala) rs267608500
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.585G>A (p.Trp195Ter) rs2147147996
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) rs1925696959
NM_001323289.2(CDKL5):c.604G>T (p.Gly202Trp) rs2147148032
NM_001323289.2(CDKL5):c.609G>C (p.Glu203Asp)
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.61G>A (p.Glu21Lys)
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.64+1G>C rs1922607301
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
NM_001323289.2(CDKL5):c.658del (p.Leu220fs)
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter) rs1925701271
NM_001323289.2(CDKL5):c.692del (p.Pro231fs)
NM_001323289.2(CDKL5):c.712_713dup (p.Tyr239fs)
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.749del (p.Pro250fs) rs2147153531
NM_001323289.2(CDKL5):c.74G>T (p.Gly25Val)
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) rs1555951141
NM_001323289.2(CDKL5):c.758del (p.Asn253fs)
NM_001323289.2(CDKL5):c.781dup (p.Arg261fs)
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.830T>C (p.Leu277Ser) rs2147156094
NM_001323289.2(CDKL5):c.844_856delinsA (p.Pro282_Tyr286delinsAsn) rs2147156107
NM_001323289.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.86A>C (p.Lys29Thr)
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.877_881dup (p.His294fs) rs1926080344
NM_001323289.2(CDKL5):c.878dup (p.Asn293fs) rs1926080187
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001323289.2(CDKL5):c.902_903dup (p.Leu302fs) rs267608546
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_001323289.2(CDKL5):c.934A>T (p.Lys312Ter)
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.99+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_001323289.2(CDKL5):c.993_994dup (p.Ser332fs) rs2147160115
NM_001324418.2(ADAM22):c.2396del (p.Ser799fs) rs1554519462
NM_001324418.2(ADAM22):c.2860C>T (p.Arg954Ter) rs1262642807
NM_001324418.2(ADAM22):c.2888C>T (p.Ser963Phe)
NM_001326342.2(CELF2):c.1353del (p.Asp451fs) rs2132555667
NM_001326342.2(CELF2):c.1516C>G (p.Arg506Gly) rs2132785331
NM_001326342.2(CELF2):c.1517G>A (p.Arg506His) rs2132785456
NM_001326342.2(CELF2):c.1558C>T (p.Pro520Ser) rs2132786780
NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter) rs2132786873
NM_001326342.2(CELF2):c.709C>T (p.Gln237Ter) rs2138616482
NM_001326342.2(CELF2):c.883del (p.Ala295fs)
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr) rs1941714399
NM_001330260.2(SCN8A):c.1498C>T (p.Gln500Ter)
NM_001330260.2(SCN8A):c.1511_1512del (p.Leu503_Ser504insTer) rs2138750473
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs) rs1352024223
NM_001330260.2(SCN8A):c.1967del (p.Gly656fs)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) rs794727128
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2364_2370+1del rs2138838820
NM_001330260.2(SCN8A):c.2486_2489delinsCCATTA (p.Leu829fs) rs1592148206
NM_001330260.2(SCN8A):c.2534C>G (p.Ser845Cys)
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2539C>T (p.Arg847Ter) rs1555225532
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2617G>A (p.Gly873Ser) rs1942828530
NM_001330260.2(SCN8A):c.2617G>C (p.Gly873Arg)
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.2654T>C (p.Ile885Thr) rs1942829127
NM_001330260.2(SCN8A):c.2671G>A (p.Val891Met) rs1592149793
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2791C>T (p.Arg931Ter)
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe) rs774522197
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.2942G>T (p.Ser981Ile)
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.3350C>A (p.Ser1117Ter)
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3664_3719dup (p.Tyr1241fs) rs2138878910
NM_001330260.2(SCN8A):c.3925C>T (p.Arg1309Ter)
NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met) rs1555228303
NM_001330260.2(SCN8A):c.3943G>T (p.Val1315Leu) rs1555228303
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.4049C>T (p.Ala1350Val) rs1592162506
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs) rs2138904272
NM_001330260.2(SCN8A):c.4122_4123del (p.Glu1375fs) rs2138904397
NM_001330260.2(SCN8A):c.417G>A (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4245G>A (p.Trp1415Ter) rs1555228669
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4304_4305del (p.Glu1435fs)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4377C>G (p.Phe1459Leu)
NM_001330260.2(SCN8A):c.4384G>A (p.Val1462Ile) rs2138909650
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4397A>G (p.Asn1466Ser) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4398C>G (p.Asn1466Lys)
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4438T>G (p.Phe1480Val)
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4445C>A (p.Thr1482Asn)
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4487G>A (p.Gly1496Asp) rs762777153
NM_001330260.2(SCN8A):c.4568C>A (p.Ala1523Asp) rs2138919071
NM_001330260.2(SCN8A):c.4583T>A (p.Ile1528Asn) rs2138919119
NM_001330260.2(SCN8A):c.4586dup (p.Met1529fs) rs2138919129
NM_001330260.2(SCN8A):c.4605_4606del (p.Met1536fs) rs2138919187
NM_001330260.2(SCN8A):c.4613C>A (p.Thr1538Lys) rs2138919240
NM_001330260.2(SCN8A):c.4651dup (p.Glu1551fs) rs2138919307
NM_001330260.2(SCN8A):c.4774G>T (p.Val1592Leu)
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile) rs1565933795
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4863G>C (p.Leu1621Phe)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4893C>G (p.Ile1631Met)
NM_001330260.2(SCN8A):c.4934T>G (p.Met1645Arg)
NM_001330260.2(SCN8A):c.5280G>A (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg)
NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn) rs1938725748
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001330260.2(SCN8A):c.718A>G (p.Ile240Val) rs1064793923
NM_001330260.2(SCN8A):c.727G>T (p.Ala243Ser) rs2138735536
NM_001330260.2(SCN8A):c.760G>A (p.Val254Met) rs1057518293
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330260.2(SCN8A):c.832C>T (p.Arg278Ter) rs1555218657
NM_001330260.2(SCN8A):c.929-2A>G
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)
NM_001330723.2(SNX27):c.1216_1217dup (p.Glu407fs) rs2102724265
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter) rs574654968
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)
NM_001330723.2(SNX27):c.265dup (p.Ala89fs) rs781657502
NM_001330723.2(SNX27):c.556del (p.Tyr186fs)
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs) rs1669791515
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter) rs2102676931
NM_001330723.2(SNX27):c.873del (p.Lys293fs) rs1669994959
NM_001330723.2(SNX27):c.977dup (p.His326fs) rs2102690228
NM_001350451.2(RBFOX3):c.1002C>A (p.Tyr334Ter) rs972548690
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter) rs2147218558
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter) rs782206262
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.582+1G>A rs1569476483
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) rs1569458475
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter) rs2147307979
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) rs2050112328
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs) rs2147266023
NM_001353961.2(SCN1A):c.-1731del rs1574266816
NM_001365536.1(SCN9A):c.102del (p.Glu34fs)
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) rs1574873149
NM_001365536.1(SCN9A):c.116del (p.Lys39fs) rs2105226927
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1295_1296del (p.Lys432fs)
NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter) rs1553498017
NM_001365536.1(SCN9A):c.1344_1345dup (p.Ser449fs)
NM_001365536.1(SCN9A):c.1497del (p.Lys499fs) rs2106487245
NM_001365536.1(SCN9A):c.1502C>A (p.Ser501Ter) rs751421307
NM_001365536.1(SCN9A):c.1528A>T (p.Arg510Ter)
NM_001365536.1(SCN9A):c.1528del (p.Arg510fs)
NM_001365536.1(SCN9A):c.1635del (p.Ala546fs)
NM_001365536.1(SCN9A):c.1678_1679insCT (p.Arg560fs) rs1697657932
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) rs775868908
NM_001365536.1(SCN9A):c.1789C>T (p.Arg597Ter)
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) rs1574859556
NM_001365536.1(SCN9A):c.2064_2065del (p.Arg688fs)
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) rs779327684
NM_001365536.1(SCN9A):c.2139G>A (p.Trp713Ter)
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2204del (p.Lys735fs) rs1297421890
NM_001365536.1(SCN9A):c.2217dup (p.Ile740fs)
NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer) rs1553488759
NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter) rs142219317
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) rs766212849
NM_001365536.1(SCN9A):c.2507C>A (p.Ser836Ter) rs2106471095
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) rs753900410
NM_001365536.1(SCN9A):c.2579del (p.Gly860fs)
NM_001365536.1(SCN9A):c.2599G>C (p.Gly867Arg) rs1697277352
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2667dup (p.Lys890Ter) rs2106469123
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer) rs1697271674
NM_001365536.1(SCN9A):c.2788G>T (p.Glu930Ter)
NM_001365536.1(SCN9A):c.2832C>A (p.Cys944Ter)
NM_001365536.1(SCN9A):c.2941G>T (p.Glu981Ter)
NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer) rs2106461311
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) rs1574844397
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3096del (p.Lys1033fs) rs2106460925
NM_001365536.1(SCN9A):c.3183_3199del (p.Phe1062fs) rs1317855790
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter) rs1553486684
NM_001365536.1(SCN9A):c.3352-1G>A rs2106426576
NM_001365536.1(SCN9A):c.3550del (p.Thr1184fs)
NM_001365536.1(SCN9A):c.3587del (p.Ser1196fs)
NM_001365536.1(SCN9A):c.363del (p.Ile122fs) rs1698779595
NM_001365536.1(SCN9A):c.3734G>A (p.Trp1245Ter)
NM_001365536.1(SCN9A):c.3736_3739dup (p.Ala1247fs)
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter) rs1553481071
NM_001365536.1(SCN9A):c.3801+1G>A rs2106403305
NM_001365536.1(SCN9A):c.3818del (p.Thr1272_Leu1273insTer) rs1344477568
NM_001365536.1(SCN9A):c.381dup (p.Phe128fs)
NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer)
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.3956C>T (p.Pro1319Leu)
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.3996G>A (p.Trp1332Ter)
NM_001365536.1(SCN9A):c.4084del (p.Ser1362fs)
NM_001365536.1(SCN9A):c.4141C>T (p.Arg1381Ter)
NM_001365536.1(SCN9A):c.4195_4196del (p.Leu1399fs) rs2106387246
NM_001365536.1(SCN9A):c.420C>A (p.Cys140Ter)
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs) rs1693682030
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer) rs2106346033
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs) rs1693396597
NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter) rs779609081
NM_001365536.1(SCN9A):c.5004T>A (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.5004T>G (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.500C>A (p.Ser167Ter)
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs) rs1320568689
NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter) rs1553473186
NM_001365536.1(SCN9A):c.5113dup (p.Ala1705fs)
NM_001365536.1(SCN9A):c.5142del (p.Cys1715fs)
NM_001365536.1(SCN9A):c.52C>T (p.Gln18Ter)
NM_001365536.1(SCN9A):c.531T>A (p.Cys177Ter)
NM_001365536.1(SCN9A):c.570G>A (p.Trp190Ter) rs1553496156
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs) rs1574903287
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr) rs1698638581
NM_001365536.1(SCN9A):c.722C>A (p.Ser241Ter)
NM_001365536.1(SCN9A):c.759_760del (p.Phe254fs) rs1559027674
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) rs121908916
NM_001365536.1(SCN9A):c.915C>A (p.Tyr305Ter) rs2106506584
NM_001365999.1(SZT2):c.105C>G (p.Phe35Leu) rs1553138299
NM_001365999.1(SZT2):c.1496G>T (p.Ser499Ile) rs886041034
NM_001365999.1(SZT2):c.203G>A (p.Trp68Ter)
NM_001365999.1(SZT2):c.2092C>T (p.Gln698Ter) rs397515490
NM_001365999.1(SZT2):c.3668dup (p.Ala1224fs) rs1653321651
NM_001365999.1(SZT2):c.3871_3887del (p.Asn1291fs) rs1653397925
NM_001365999.1(SZT2):c.4396C>T (p.Arg1466Ter) rs766090540
NM_001365999.1(SZT2):c.5653del (p.Gly1886fs) rs1654084368
NM_001365999.1(SZT2):c.5938G>A (p.Val1980Met) rs780805483
NM_001365999.1(SZT2):c.73C>T (p.Arg25Ter) rs397515489
NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr) rs1553153691
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001365999.1(SZT2):c.7996T>G (p.Trp2666Gly) rs1655170724
NM_001365999.1(SZT2):c.8333C>G (p.Ser2778Cys) rs1276523236
NM_001365999.1(SZT2):c.8803C>T (p.Arg2935Trp) rs1553154643
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001365999.1(SZT2):c.9040C>T (p.Arg3014Ter)
NM_001367561.1(DOCK7):c.1083del (p.Tyr362fs)
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1290del (p.Ser432fs)
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1660dup (p.Tyr554fs)
NM_001367561.1(DOCK7):c.1725del (p.Arg576fs) rs2149499164
NM_001367561.1(DOCK7):c.191_195delinsA (p.Leu64fs) rs1557864817
NM_001367561.1(DOCK7):c.2106_2107dup (p.Pro703fs) rs2149480897
NM_001367561.1(DOCK7):c.2112+2T>C rs2149480893
NM_001367561.1(DOCK7):c.2278C>T (p.Arg760Ter)
NM_001367561.1(DOCK7):c.2359C>T (p.Arg787Ter)
NM_001367561.1(DOCK7):c.2479C>T (p.Arg827Ter)
NM_001367561.1(DOCK7):c.2510del (p.Asp837fs) rs886037665
NM_001367561.1(DOCK7):c.2615del (p.Gly872fs)
NM_001367561.1(DOCK7):c.2683C>T (p.Arg895Ter) rs1450310137
NM_001367561.1(DOCK7):c.2860G>T (p.Ala954Ser)
NM_001367561.1(DOCK7):c.2869C>T (p.Arg957Ter)
NM_001367561.1(DOCK7):c.296_297del (p.Leu99fs)
NM_001367561.1(DOCK7):c.3132_3133del (p.Ile1045fs) rs2149393749
NM_001367561.1(DOCK7):c.3159del (p.Ser1054fs)
NM_001367561.1(DOCK7):c.3247_3248insGGACAGATGT (p.Ser1083fs)
NM_001367561.1(DOCK7):c.3408dup (p.Pro1137fs)
NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter) rs587777484
NM_001367561.1(DOCK7):c.3937-686_4597del
NM_001367561.1(DOCK7):c.3976C>T (p.Arg1326Ter) rs756535975
NM_001367561.1(DOCK7):c.4128del (p.Val1377fs) rs2149340429
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter) rs1479675678
NM_001367561.1(DOCK7):c.4141dup (p.Met1381fs)
NM_001367561.1(DOCK7):c.4237C>T (p.Arg1413Ter) rs1223056056
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
NM_001367561.1(DOCK7):c.443_446del (p.Glu148fs) rs1438270423
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
NM_001367561.1(DOCK7):c.4675C>T (p.Arg1559Ter)
NM_001367561.1(DOCK7):c.4682_4683del (p.His1560_Cys1561insTer) rs2149320961
NM_001367561.1(DOCK7):c.4783del (p.Met1595fs) rs1553156203
NM_001367561.1(DOCK7):c.4924-1G>A rs2149301822
NM_001367561.1(DOCK7):c.5059C>T (p.Arg1687Ter) rs2149298999
NM_001367561.1(DOCK7):c.5306_5310del (p.Tyr1768_Phe1769insTer)
NM_001367561.1(DOCK7):c.5338C>T (p.Gln1780Ter)
NM_001367561.1(DOCK7):c.5368dup (p.Met1790fs)
NM_001367561.1(DOCK7):c.5381_5382dup (p.Asn1795fs) rs1305460528
NM_001367561.1(DOCK7):c.5509-7_5509-6insA
NM_001367561.1(DOCK7):c.556dup (p.Thr186fs) rs2149679279
NM_001367561.1(DOCK7):c.5619dup (p.Ser1874fs)
NM_001367561.1(DOCK7):c.5697dup (p.Asp1900fs)
NM_001367561.1(DOCK7):c.5830_5834dup (p.Pro1946fs) rs2149259725
NM_001367561.1(DOCK7):c.6101dup (p.Asn2034fs)
NM_001367561.1(DOCK7):c.6184C>T (p.Arg2062Ter)
NM_001367561.1(DOCK7):c.783del (p.Phe261fs) rs1557855477
NM_001367561.1(DOCK7):c.983C>G (p.Ser328Ter) rs886037666
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001371727.1(GABRB2):c.236T>C (p.Met79Thr) rs606231468
NM_001371727.1(GABRB2):c.730T>C (p.Tyr244His) rs1554094149
NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser) rs1554094145
NM_001371727.1(GABRB2):c.859A>C (p.Thr287Pro) rs1554093894
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371727.1(GABRB2):c.908A>G (p.Lys303Arg) rs1554093885
NM_001371727.1(GABRB2):c.909G>T (p.Lys303Asn) rs886039375
NM_001378457.1(DMXL2):c.4478C>A (p.Ser1493Ter) rs1596016716
NM_001378457.1(DMXL2):c.4478C>G (p.Ser1493Ter) rs1596016716
NM_001378457.1(DMXL2):c.5135C>T (p.Ala1712Val) rs372749193
NM_001378457.1(DMXL2):c.6257_6258insTTACATGA (p.Glu2086fs) rs1595955503
NM_001378457.1(DMXL2):c.7521-1G>A rs1595908479
NM_001385012.1(NBEA):c.4662+1G>C rs2070957033
NM_001393504.1(MAST3):c.1304G>C (p.Arg435Pro)
NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser) rs1478088223
NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)
NM_001393504.1(MAST3):c.1634T>C (p.Leu545Pro)
NM_001393504.1(MAST3):c.1738G>T (p.Val580Leu)
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)
NM_001605.3(AARS1):c.2067dup (p.Tyr690fs) rs2152153611
NM_001605.3(AARS1):c.296A>G (p.Glu99Gly) rs2152166979
NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) rs1165867512
NM_001690.4(ATP6V1A):c.1045G>A (p.Asp349Asn) rs1553710664
NM_001690.4(ATP6V1A):c.1068G>T (p.Glu356Asp)
NM_001690.4(ATP6V1A):c.1088G>T (p.Gly363Val)
NM_001690.4(ATP6V1A):c.1112A>G (p.Asp371Gly) rs1553710694
NM_001690.4(ATP6V1A):c.1294T>A (p.Phe432Ile)
NM_001690.4(ATP6V1A):c.298G>T (p.Asp100Tyr) rs1553709855
NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) rs1553709380
NM_001690.4(ATP6V1A):c.955C>T (p.Pro319Ser) rs2108034196
NM_001690.4(ATP6V1A):c.967A>G (p.Arg323Gly) rs1709072898
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala) rs2145938177
NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys) rs1555883869
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr) rs2082414178
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.391G>A (p.Gly131Arg)
NM_001958.5(EEF1A2):c.505G>A (p.Glu169Lys) rs2082409766
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val) rs1597696047
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del) rs1473654961
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly) rs752927520
NM_002314.4(LIMK1):c.1532G>C (p.Gly511Ala)
NM_002641.4(PIGA):c.1028del (p.Asn343fs)
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del) rs587777399
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter) rs387906726
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr) rs2147714706
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn) rs1921817809
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu) rs587777398
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys) rs1569180071
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu) rs587777400
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe) rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs) rs587777397
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp) rs1057524256
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs) rs796052908
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) rs749240316
NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs) rs2124926277
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met) rs760836450
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val) rs1553689859
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)
NM_003042.4(SLC6A1):c.1192-1G>A rs1697775354
NM_003042.4(SLC6A1):c.1192-2A>G rs1697775287
NM_003042.4(SLC6A1):c.1199C>T (p.Thr400Ile)
NM_003042.4(SLC6A1):c.1211del (p.Phe404fs)
NM_003042.4(SLC6A1):c.1223T>G (p.Leu408Arg) rs2124931871
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs) rs1553690583
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp) rs1553687863
NM_003042.4(SLC6A1):c.1311dup (p.Asn438Ter) rs2124932157
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1323+1G>A rs2124932194
NM_003042.4(SLC6A1):c.1335dup (p.Val446fs) rs1574917501
NM_003042.4(SLC6A1):c.1366A>C (p.Ser456Arg) rs1697893468
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys) rs1697893468
NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs) rs876657401
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter) rs745529755
NM_003042.4(SLC6A1):c.1485G>A (p.Trp495Ter)
NM_003042.4(SLC6A1):c.1495T>C (p.Cys499Arg) rs2124942597
NM_003042.4(SLC6A1):c.1500G>A (p.Trp500Ter) rs1698023156
NM_003042.4(SLC6A1):c.1513C>A (p.Pro505Thr) rs1698023649
NM_003042.4(SLC6A1):c.1525del (p.Ala509fs)
NM_003042.4(SLC6A1):c.1528-1G>A
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003042.4(SLC6A1):c.1552C>T (p.Gln518Ter)
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg) rs1698067665
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.1613G>A (p.Trp538Ter)
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1711del (p.Val571fs) rs1574929097
NM_003042.4(SLC6A1):c.197del (p.Asn66fs) rs1697197599
NM_003042.4(SLC6A1):c.1A>G (p.Met1Val)
NM_003042.4(SLC6A1):c.209del (p.Phe70fs)
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg) rs1085307804
NM_003042.4(SLC6A1):c.258T>A (p.Tyr86Ter)
NM_003042.4(SLC6A1):c.25del (p.Ala9fs) rs1697186082
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=) rs1697221045
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg) rs1559622516
NM_003042.4(SLC6A1):c.336del (p.Gly112_Leu113insTer)
NM_003042.4(SLC6A1):c.336dup (p.Leu113fs) rs1697224249
NM_003042.4(SLC6A1):c.341_344delinsCC (p.Gly114fs)
NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser) rs2124907082
NM_003042.4(SLC6A1):c.373G>A (p.Val125Met) rs1574893965
NM_003042.4(SLC6A1):c.403_423del (p.Trp135_Ile141del) rs2124908675
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter) rs1697263091
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)
NM_003042.4(SLC6A1):c.449del (p.Tyr150fs) rs2124908824
NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)
NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)
NM_003042.4(SLC6A1):c.502del (p.Trp168fs)
NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs) rs1574897036
NM_003042.4(SLC6A1):c.566del (p.Val189fs) rs2124912717
NM_003042.4(SLC6A1):c.581+1G>C
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs) rs1553688970
NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs) rs2124917812
NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)
NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter) rs1697444489
NM_003042.4(SLC6A1):c.714+2T>G
NM_003042.4(SLC6A1):c.738C>A (p.Tyr246Ter) rs1559629701
NM_003042.4(SLC6A1):c.850-1G>A rs2124924932
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del) rs1574907198
NM_003042.4(SLC6A1):c.888C>G (p.Tyr296Ter)
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter) rs2124905063
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg) rs1553689696
NM_003042.4:c.-153_(1078+1_1079-1)del
NM_003114.5(SPAG1):c.2542del (p.Asp848fs) rs886037653
NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter) rs397518459
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003165.6(STXBP1):c.664-1delG rs2131472407
NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys) rs1578264574
NM_003359.4(UGDH):c.214T>G (p.Ser72Ala) rs769243823
NM_003359.4(UGDH):c.244G>A (p.Ala82Thr) rs1578274054
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.1447-2_1447-1del
NM_003705.5(SLC25A12):c.693del (p.Val232fs)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004114.5(FGF13):c.23C>A (p.Ser8Ter)
NM_004114.5(FGF13):c.31C>T (p.Arg11Cys) rs2090039774
NM_004114.5(FGF13):c.32G>C (p.Arg11Pro) rs2090039732
NM_004114.5(FGF13):c.41G>C (p.Arg14Thr) rs2090039606
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) rs886037943
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004204.5(PIGQ):c.1024C>T (p.Gln342Ter) rs2151047073
NM_004204.5(PIGQ):c.1113G>A (p.Trp371Ter) rs1596385588
NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer)
NM_004204.5(PIGQ):c.1165_1166del (p.Ser389fs)
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1333C>T (p.Gln445Ter)
NM_004204.5(PIGQ):c.1521C>G (p.Tyr507Ter)
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930
NM_004204.5(PIGQ):c.161_174del (p.Gln54fs) rs762696210
NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter) rs1341033162
NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)
NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004204.5(PIGQ):c.254dup (p.Ala86fs)
NM_004204.5(PIGQ):c.255dup (p.Ala86fs)
NM_004204.5(PIGQ):c.418C>T (p.Gln140Ter)
NM_004204.5(PIGQ):c.449del (p.Arg150fs) rs2151044473
NM_004204.5(PIGQ):c.52_70dup (p.Val24fs) rs2151044127
NM_004204.5(PIGQ):c.532del (p.Ser178fs)
NM_004204.5(PIGQ):c.551del (p.Gly184fs) rs767373792
NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter)
NM_004204.5(PIGQ):c.618del (p.Arg206fs) rs1229740428
NM_004204.5(PIGQ):c.637del (p.Cys213fs)
NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter)
NM_004204.5(PIGQ):c.69G>A (p.Trp23Ter)
NM_004204.5(PIGQ):c.733_734del (p.Ser245fs) rs780581800
NM_004204.5(PIGQ):c.909del (p.His304fs)
NM_004204.5(PIGQ):c.91_106del (p.Val31fs) rs1567174597
NM_004204.5(PIGQ):c.942+1G>C rs200661329
NM_004204.5(PIGQ):c.961C>T (p.Gln321Ter)
NM_004287.5(GOSR2):c.161del (p.Leu54fs) rs2146892080
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.179dup (p.Pro60_Asn61insTer)
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
NM_004287.5(GOSR2):c.210del (p.Asp71fs) rs2146911959
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.241C>T (p.Gln81Ter)
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
NM_004287.5(GOSR2):c.262del (p.Gln88fs) rs776869841
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter) rs201616211
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del) rs863223401
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_004341.5(CAD):c.1843-1G>A rs769567624
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004341.5(CAD):c.2953_2954del (p.Met985fs)
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_004341.5(CAD):c.933_934del (p.Phe312fs)
NM_004341.5(CAD):c.98T>G (p.Met33Arg) rs751610198
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro) rs1564332930
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter) rs2131175203
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1321C>T (p.Gln441Ter)
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter) rs1829434336
NM_004408.4(DNM1):c.2299dup (p.Ser767fs) rs2131297826
NM_004408.4(DNM1):c.2434dup (p.Ala812fs) rs747024881
NM_004408.4(DNM1):c.350del (p.Pro117fs)
NM_004408.4(DNM1):c.375C>G (p.Tyr125Ter)
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu) rs1554772913
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.590-2A>G
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.767del (p.Arg256fs) rs2131158061
NM_004408.4(DNM1):c.850C>T (p.Gln284Ter) rs1588368432
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_004408.4(DNM1):c.97C>T (p.Gln33Ter)
NM_004519.4(KCNQ3):c.1048del (p.Ile350fs)
NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter) rs1554627019
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys) rs1459374430
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) rs1554626549
NM_004519.4(KCNQ3):c.115G>T (p.Glu39Ter)
NM_004519.4(KCNQ3):c.1206T>A (p.Tyr402Ter) rs1489716280
NM_004519.4(KCNQ3):c.1220_1221del (p.Ser407fs) rs1826288852
NM_004519.4(KCNQ3):c.1423del (p.Ala475fs) rs2130944386
NM_004519.4(KCNQ3):c.1558C>T (p.Arg520Ter) rs1289108911
NM_004519.4(KCNQ3):c.1576C>T (p.Gln526Ter)
NM_004519.4(KCNQ3):c.1599del (p.Lys533fs) rs762289015
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004519.4(KCNQ3):c.1621del (p.Tyr541fs) rs2130938733
NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs) rs1563767053
NM_004519.4(KCNQ3):c.1722del (p.Gly575fs) rs1563764788
NM_004519.4(KCNQ3):c.299_302del (p.Asn100fs)
NM_004519.4(KCNQ3):c.61_77del (p.Gly20_Gly21insTer) rs1174348338
NM_004519.4(KCNQ3):c.679C>T (p.Arg227Ter) rs796052675
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004519.4(KCNQ3):c.710T>A (p.Met237Lys)
NM_004519.4(KCNQ3):c.802G>C (p.Gly268Arg) rs1282879239
NM_004519.4(KCNQ3):c.893del (p.Glu298fs)
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) rs796052678
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr) rs1586800133
NM_004519.4(KCNQ3):c.958G>A (p.Gly320Arg)
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His) rs1162306056
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu) rs1162306056
NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro) rs1595805026
NM_004855.5(PIGB):c.1220A>G (p.His407Arg) rs1566960044
NM_004855.5(PIGB):c.1611A>G (p.Ile537Met) rs2056056414
NM_004855.5(PIGB):c.847-10A>G rs779296101
NM_004855.5(PIGB):c.856G>C (p.Val286Leu) rs1595791368
NM_004855.5(PIGB):c.91A>T (p.Lys31Ter)
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) rs1553181301
NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg) rs2101396301
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.181del (p.Asp61fs)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln) rs1649513909
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)
NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)
NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)
NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)
NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del) rs2101399429
NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) rs786205231
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp) rs1649473972
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) rs876657390
NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly) rs2101398407
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter) rs2146813797
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) rs1984250919
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) rs587777850
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) rs1984249721
NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg)
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu) rs2146813695
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu) rs2146813598
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro) rs2146813554
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter) rs2146813259
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro) rs2146813954
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser) rs2146813951
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.1984_1985del (p.Met662fs)
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.2420G>A (p.Trp807Ter)
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) rs369993428
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6464C>A (p.Ser2155Ter)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.7678C>T (p.Arg2560Ter)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8632_8642del (p.Ser2878fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9343C>T (p.Gln3115Ter)
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005076.5(CNTN2):c.1180C>T (p.Gln394Ter) rs2151192841
NM_005076.5(CNTN2):c.124C>T (p.Gln42Ter)
NM_005076.5(CNTN2):c.1327dup (p.Arg443fs)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter) rs114903768
NM_005076.5(CNTN2):c.159_160delinsTT (p.Glu54Ter)
NM_005076.5(CNTN2):c.1696A>T (p.Lys566Ter)
NM_005076.5(CNTN2):c.1699G>T (p.Glu567Ter) rs867618155
NM_005076.5(CNTN2):c.1711del (p.Asp571fs)
NM_005076.5(CNTN2):c.1884G>A (p.Trp628Ter)
NM_005076.5(CNTN2):c.2067_2068del (p.Ile690fs)
NM_005076.5(CNTN2):c.2081_2099del (p.Gly694fs)
NM_005076.5(CNTN2):c.2193G>A (p.Trp731Ter)
NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter) rs531184069
NM_005076.5(CNTN2):c.2697dup (p.Ser900fs) rs2151200083
NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter) rs768608238
NM_005076.5(CNTN2):c.2773del (p.Ser925fs) rs2151200415
NM_005076.5(CNTN2):c.2874_2875del (p.Pro959fs)
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.766C>T (p.Gln256Ter)
NM_005076.5(CNTN2):c.851G>A (p.Trp284Ter)
NM_005076.5(CNTN2):c.943_944del (p.Asp315fs)
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) rs2134026513
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter) rs2134026684
NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter) rs1554907787
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1442del (p.Pro481fs) rs2134026964
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) rs2134027169
NM_005097.4(LGI1):c.360-3C>A rs1589762127
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.416del (p.Lys139fs)
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.443dup (p.Asn148fs) rs2134017940
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) rs2134017952
NM_005097.4(LGI1):c.598del (p.Cys200fs)
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
NM_005097.4(LGI1):c.611del (p.Pro204fs)
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter) rs2134021516
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
NM_005249.5(FOXG1):c.1014dup (p.Met339fs) rs1881816066
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) rs764343290
NM_005249.5(FOXG1):c.1037del (p.Thr346fs)
NM_005249.5(FOXG1):c.1074del (p.Ala359fs)
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.1095_1114del (p.Arg366fs) rs2138661946
NM_005249.5(FOXG1):c.1135del (p.Leu379fs) rs1881819022
NM_005249.5(FOXG1):c.1141del (p.Ala381fs) rs2138662009
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) rs1392520466
NM_005249.5(FOXG1):c.1200C>A (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1244_1245del (p.Ser415fs)
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.1255_1274dup (p.Met426fs)
NM_005249.5(FOXG1):c.1359_1360del (p.Cys453_Glu454delinsTer)
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) rs786205000
NM_005249.5(FOXG1):c.1410del (p.Leu471fs) rs2138662354
NM_005249.5(FOXG1):c.1412_1427del (p.Leu471fs)
NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs) rs1881828200
NM_005249.5(FOXG1):c.170_179del (p.His57fs) rs587783631
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs) rs1555321206
NM_005249.5(FOXG1):c.190C>T (p.Gln64Ter)
NM_005249.5(FOXG1):c.208C>T (p.Gln70Ter)
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs) rs2138660395
NM_005249.5(FOXG1):c.230del (p.Pro77fs)
NM_005249.5(FOXG1):c.239del (p.Pro80fs)
NM_005249.5(FOXG1):c.243_262del (p.Pro82fs) rs2138660457
NM_005249.5(FOXG1):c.245dup (p.Gln83fs)
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.272del (p.Pro91fs)
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.301C>T (p.Gln101Ter) rs1881788747
NM_005249.5(FOXG1):c.314_335del (p.Pro105fs)
NM_005249.5(FOXG1):c.356del (p.Ala119fs) rs2138660687
NM_005249.5(FOXG1):c.385del (p.Glu129fs) rs2138660748
NM_005249.5(FOXG1):c.389del (p.Pro130fs)
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.406del (p.Glu136fs) rs1881793162
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.413del (p.Ala138fs)
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter) rs797045583
NM_005249.5(FOXG1):c.439A>T (p.Lys147Ter)
NM_005249.5(FOXG1):c.453del (p.Glu154fs)
NM_005249.5(FOXG1):c.459_460del (p.Glu154fs)
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter) rs1057520780
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.469A>T (p.Lys157Ter) rs2138660947
NM_005249.5(FOXG1):c.485dup (p.Gly163fs) rs2138660968
NM_005249.5(FOXG1):c.499G>T (p.Glu167Ter)
NM_005249.5(FOXG1):c.500_501insC (p.Glu167fs)
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.506dup (p.Lys170fs) rs1452295073
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter) rs2138661070
NM_005249.5(FOXG1):c.532A>T (p.Lys178Ter) rs2138661094
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) rs1555321301
NM_005249.5(FOXG1):c.541A>T (p.Lys181Ter)
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln) rs796052461
NM_005249.5(FOXG1):c.552dup (p.Ser185fs) rs786205004
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) rs2138661139
NM_005249.5(FOXG1):c.559_561del (p.Asn187del)
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe) rs1555321308
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) rs1001642335
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter) rs796052463
NM_005249.5(FOXG1):c.587A>C (p.Gln196Pro) rs2138661191
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.592_594del (p.Pro198del) rs2138661203
NM_005249.5(FOXG1):c.594del (p.Glu199fs)
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs) rs2138661224
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr) rs1594383648
NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer) rs2138661266
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.645C>A (p.Phe215Leu) rs1057518165
NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu) rs1057518165
NM_005249.5(FOXG1):c.648_649insAT (p.Tyr217fs)
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter) rs796052464
NM_005249.5(FOXG1):c.654C>A (p.Tyr218Ter) rs2138661305
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu) rs786205007
NM_005249.5(FOXG1):c.690_697dup (p.Leu233fs) rs2138661370
NM_005249.5(FOXG1):c.692A>G (p.His231Arg) rs2138661375
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.725_731dup (p.His245fs)
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.738C>G (p.Tyr246Ter) rs1240929961
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) rs121913678
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.777del (p.Ser260fs) rs1594383798
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs) rs786205010
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
NM_005249.5(FOXG1):c.793_808del (p.Phe265fs) rs2138661547
NM_005249.5(FOXG1):c.797T>C (p.Ile266Thr)
NM_005249.5(FOXG1):c.797T>G (p.Ile266Ser) rs886041744
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) rs869312700
NM_005249.5(FOXG1):c.841del (p.Arg281fs)
NM_005249.5(FOXG1):c.85del (p.Gln29fs) rs1594382746
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter) rs2138661742
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.943_949dup (p.His317fs) rs2138661778
NM_005249.5(FOXG1):c.946del (p.Leu316fs) rs1555321380
NM_005249.5(FOXG1):c.958del (p.Arg320fs) rs1555321382
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005249.5(FOXG1):c.974dup (p.Leu325fs) rs2138661811
NM_005249.5(FOXG1):c.981C>A (p.Tyr327Ter)
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs) rs1594384015
NM_005249.5(FOXG1):c.995del (p.Ser332fs)
NM_005458.8(GABBR2):c.2077G>T (p.Gly693Trp) rs1554689320
NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile) rs1554689319
NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn) rs1554689315
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) rs780638384
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
NM_005506.4(SCARB2):c.1114-2A>C rs727502781
NM_005506.4(SCARB2):c.1239+1G>T rs727502772
NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs) rs1178344132
NM_005506.4(SCARB2):c.1258del (p.Glu420fs) rs727502782
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
NM_005506.4(SCARB2):c.134del (p.Asn45fs) rs1578733075
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
NM_005506.4(SCARB2):c.235del (p.Glu79fs) rs1732698125
NM_005506.4(SCARB2):c.367dup (p.Gln123fs) rs1553948516
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs) rs727502773
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter) rs121909119
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs) rs2109944333
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer) rs886041075
NM_005506.4(SCARB2):c.850del (p.Tyr284fs) rs2109942038
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
NM_005506.4(SCARB2):c.956del (p.Leu319fs) rs1732195544
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) rs1170939620
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter) rs187930476
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter) rs750988816
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
NM_005670.4(EPM2A):c.301+2T>C
NM_005670.4(EPM2A):c.302-2A>G rs780648601
NM_005670.4(EPM2A):c.314A>G (p.His105Arg) rs1554263366
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) rs1780901751
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs) rs1554263320
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) rs1776817138
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs) rs1775923311
NM_005670.4(EPM2A):c.794A>G (p.His265Arg) rs201053542
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) rs137852917
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del) rs2128649765
NM_005670.4(EPM2A):c.934dup (p.Arg312fs) rs2128555980
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
NM_005765.3(ATP6AP2):c.168+6T>A rs1057519331
NM_005765.3(ATP6AP2):c.284C>A (p.Ser95Ter)
NM_005765.3(ATP6AP2):c.301-11_301-10del rs1926795050
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) rs121918521
NM_005885.4(MARCHF6):c.19+2427TTTAT[641]
NM_005898.5(CAPRIN1):c.891_894del (p.Arg297fs)
NM_005917.4(MDH1):c.359C>T (p.Ala120Val) rs1709340590
NM_005918.4(MDH2):c.596del (p.Gly199fs) rs1057519567
NM_005918.4(MDH2):c.620C>T (p.Pro207Leu) rs1057519566
NM_005918.4(MDH2):c.751A>G (p.Met251Val)
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.656T>C (p.Ile219Thr) rs2121244045
NM_006030.4(CACNA2D2):c.1017del (p.Ser340fs)
NM_006030.4(CACNA2D2):c.107_177del (p.Pro36fs)
NM_006030.4(CACNA2D2):c.1162_1165del (p.Thr388fs)
NM_006030.4(CACNA2D2):c.1269_1270del (p.Phe424fs)
NM_006030.4(CACNA2D2):c.1293del (p.His431fs)
NM_006030.4(CACNA2D2):c.1298_1299del (p.Asn432_Tyr433insTer)
NM_006030.4(CACNA2D2):c.1324del (p.Ala442fs)
NM_006030.4(CACNA2D2):c.1387C>T (p.Gln463Ter)
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter) rs1559887808
NM_006030.4(CACNA2D2):c.1738del (p.Leu580fs)
NM_006030.4(CACNA2D2):c.1837del (p.Leu613fs)
NM_006030.4(CACNA2D2):c.1905C>G (p.Tyr635Ter)
NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs) rs1559884460
NM_006030.4(CACNA2D2):c.1996del (p.Leu666fs)
NM_006030.4(CACNA2D2):c.2183del (p.Gly728fs) rs2109411685
NM_006030.4(CACNA2D2):c.2281C>T (p.Arg761Ter) rs1553726252
NM_006030.4(CACNA2D2):c.235C>T (p.Gln79Ter)
NM_006030.4(CACNA2D2):c.235dup (p.Gln79fs) rs2107090466
NM_006030.4(CACNA2D2):c.2503del (p.Val835fs)
NM_006030.4(CACNA2D2):c.2643dup (p.Leu882fs)
NM_006030.4(CACNA2D2):c.2646_2647del (p.Val884fs)
NM_006030.4(CACNA2D2):c.2666_2669dup (p.Phe891fs)
NM_006030.4(CACNA2D2):c.2696dup (p.His899fs)
NM_006030.4(CACNA2D2):c.2740_2750del (p.Asn914fs)
NM_006030.4(CACNA2D2):c.2920_2921del (p.Leu974fs) rs2109400528
NM_006030.4(CACNA2D2):c.2920del (p.Leu974fs) rs2109400541
NM_006030.4(CACNA2D2):c.2991_2994del (p.Ser998fs)
NM_006030.4(CACNA2D2):c.3034C>T (p.Gln1012Ter)
NM_006030.4(CACNA2D2):c.3106del (p.His1036fs)
NM_006030.4(CACNA2D2):c.3223C>T (p.Gln1075Ter) rs2109395463
NM_006030.4(CACNA2D2):c.353del (p.Lys118fs)
NM_006030.4(CACNA2D2):c.409_413dup (p.Asp139fs)
NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) rs1060503108
NM_006030.4(CACNA2D2):c.82del (p.His28fs)
NM_006030.4(CACNA2D2):c.843G>A (p.Trp281Ter) rs1553730120
NM_006030.4(CACNA2D2):c.851dup (p.Ala286fs) rs1575603683
NM_006030.4(CACNA2D2):c.871_872del (p.Asp291fs) rs2106664189
NM_006030.4(CACNA2D2):c.97_103del (p.Thr33fs)
NM_006030.4(CACNA2D2):c.97_103dup (p.Arg35fs) rs1451909068
NM_006160.4(NEUROD2):c.208T>G (p.Leu70Val)
NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln) rs1323339153
NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr) rs1567841596
NM_006178.4(NSF):c.1375G>A (p.Ala459Thr) rs2146247619
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu) rs2146266663
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_006279.5(ST3GAL3):c.302+1del rs2154197473
NM_006279.5(ST3GAL3):c.529C>T (p.Arg177Ter) rs2077858180
NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) rs201204481
NM_006279.5(ST3GAL3):c.729_730insCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATACATCGTC (p.Tyr244delinsLeuTer) rs2154270971
NM_006279.5(ST3GAL3):c.891+1del rs1387140766
NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) rs1557563410
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1911+1G>T rs2075687835
NM_006306.4(SMC1A):c.2076del (p.Lys692fs) rs2146599361
NM_006306.4(SMC1A):c.2122del (p.Leu708fs) rs2146599339
NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter) rs2075681060
NM_006306.4(SMC1A):c.2364del (p.Asn788fs) rs2075680107
NM_006306.4(SMC1A):c.2394del (p.Lys798fs) rs1569356555
NM_006306.4(SMC1A):c.2477del (p.Asn826fs) rs2075664229
NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly) rs2075651835
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.2890_2893del (p.Ser964fs)
NM_006306.4(SMC1A):c.298+2T>C
NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter) rs2075591576
NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter) rs2146582701
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.1010A>T (p.His337Leu) rs1553155982
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser) rs80359812
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile) rs80359812
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs) rs1643457017
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs) rs1553155973
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs) rs2124447951
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.4(SLC2A1):c.115-2A>C rs2124450950
NM_006516.4(SLC2A1):c.115-2A>G rs2124450950
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys) rs796053263
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His) rs776095655
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu) rs776095655
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg) rs1557644984
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter) rs796053264
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) rs75485205
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter) rs80359828
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs) rs2124445519
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter) rs80359829
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter) rs754791604
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
NM_006516.4(SLC2A1):c.18+1G>A rs80359841
NM_006516.4(SLC2A1):c.19-2A>G rs796053272
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val) rs2124478725
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp) rs80359814
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.274del (p.Arg92fs) rs1570593820
NM_006516.4(SLC2A1):c.275+1del rs2124450705
NM_006516.4(SLC2A1):c.276-1G>A rs1570593665
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile) rs267607060
NM_006516.4(SLC2A1):c.293del (p.Met98fs) rs1643481831
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs) rs1557646673
NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg)
NM_006516.4(SLC2A1):c.376C>G (p.Arg126Gly)
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) rs80359819
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met) rs1057517822
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) rs794727642
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter) rs1413339367
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile) rs1057520545
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del) rs80359832
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter) rs1570592933
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter) rs2124449417
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs) rs878853161
NM_006516.4(SLC2A1):c.624del (p.Glu209fs) rs1570592844
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter) rs1387203768
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys) rs387907312
NM_006516.4(SLC2A1):c.634del (p.Arg212fs) rs2124449299
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp) rs796053248
NM_006516.4(SLC2A1):c.680-11G>A rs1259158687
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) rs794729221
NM_006516.4(SLC2A1):c.732del (p.Met244fs) rs1553156069
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter) rs2124449015
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter) rs1553156053
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter) rs1553156051
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del) rs2124448824
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter) rs1057521066
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del) rs1553156047
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr) rs2124448406
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met) rs80359823
NM_006516.4(SLC2A1):c.927del (p.Thr310fs)
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs) rs886041590
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006545.5(NPRL2):c.314T>C (p.Leu105Pro) rs886037965
NM_006545.5(NPRL2):c.57_58delinsC (p.Gly20fs) rs2109370013
NM_006545.5(NPRL2):c.68_69del (p.Ile23fs) rs886037966
NM_006545.5(NPRL2):c.883C>T (p.Arg295Ter) rs886037964
NM_006545.5(NPRL2):c.932+1G>A rs1703621639
NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg) rs1554292759
NM_006586.5(CNPY3):c.495+1G>A rs1554292820
NM_006586.5(CNPY3):c.548del (p.Asn183fs)
NM_006586.5(CNPY3):c.702_720dup (p.Ser241delinsGlySerArgArgGlnGluTer) rs1554123960
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006772.3(SYNGAP1):c.1001del (p.Lys334fs) rs1561784687
NM_006772.3(SYNGAP1):c.1022_1023del (p.Gly341fs) rs2151169133
NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser) rs1760893537
NM_006772.3(SYNGAP1):c.1053del (p.Thr352fs) rs1554121228
NM_006772.3(SYNGAP1):c.1057_1072del (p.Leu353fs)
NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) rs1581987445
NM_006772.3(SYNGAP1):c.1094del (p.Val365fs) rs1581987476
NM_006772.3(SYNGAP1):c.1117G>T (p.Gly373Ter) rs1554121245
NM_006772.3(SYNGAP1):c.1127del (p.Gly376fs) rs1760896816
NM_006772.3(SYNGAP1):c.1136C>A (p.Ser379Ter) rs371883908
NM_006772.3(SYNGAP1):c.1139del (p.Gly380fs) rs1760897529
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1160dup (p.Gly388fs)
NM_006772.3(SYNGAP1):c.1166C>A (p.Ser389Ter) rs2151169721
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.1172del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.117T>G (p.Tyr39Ter)
NM_006772.3(SYNGAP1):c.1187del (p.Gly396fs)
NM_006772.3(SYNGAP1):c.1193del (p.Pro398fs)
NM_006772.3(SYNGAP1):c.1219del (p.Gln407fs)
NM_006772.3(SYNGAP1):c.1235dup (p.Leu412fs) rs1561785003
NM_006772.3(SYNGAP1):c.123del (p.Pro42fs)
NM_006772.3(SYNGAP1):c.1253_1254del (p.Lys418fs) rs1760905282
NM_006772.3(SYNGAP1):c.1253_1256del (p.Lys418fs)
NM_006772.3(SYNGAP1):c.1267del (p.Tyr423fs)
NM_006772.3(SYNGAP1):c.1273_1274del (p.Thr425fs) rs1760905766
NM_006772.3(SYNGAP1):c.1393del (p.Leu465fs) rs1057518183
NM_006772.3(SYNGAP1):c.1441_1444dup (p.Leu482fs)
NM_006772.3(SYNGAP1):c.1453del (p.Arg485fs)
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs)
NM_006772.3(SYNGAP1):c.1492_1493del (p.Met498fs)
NM_006772.3(SYNGAP1):c.1499T>C (p.Leu500Pro)
NM_006772.3(SYNGAP1):c.1501_1504del (p.Ile501fs)
NM_006772.3(SYNGAP1):c.1532-3C>G
NM_006772.3(SYNGAP1):c.1534G>T (p.Glu512Ter) rs2151172286
NM_006772.3(SYNGAP1):c.1554_1555delinsA (p.Tyr518_Glu519delinsTer)
NM_006772.3(SYNGAP1):c.1564del (p.Glu522fs) rs2151172356
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) rs797046028
NM_006772.3(SYNGAP1):c.1603dup (p.Ser535fs)
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter) rs1554121438
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1640G>A (p.Cys547Tyr) rs2151172652
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1677-3C>G
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1685del (p.Pro562fs) rs1057519405
NM_006772.3(SYNGAP1):c.1712C>A (p.Ser571Ter) rs1554121682
NM_006772.3(SYNGAP1):c.1715G>C (p.Trp572Ser) rs1554121684
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1721del (p.Leu574fs) rs1581991929
NM_006772.3(SYNGAP1):c.1728C>A (p.Cys576Ter)
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1736_1740del (p.Arg579fs)
NM_006772.3(SYNGAP1):c.1744del (p.Glu582fs) rs1761010258
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1823_1824del (p.Phe608fs) rs1581992099
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.190-2A>C rs1776941586
NM_006772.3(SYNGAP1):c.190-2A>G rs1776941586
NM_006772.3(SYNGAP1):c.1902del (p.Asn635fs) rs2151181087
NM_006772.3(SYNGAP1):c.1908_1909del (p.Ser637fs) rs1057519400
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.199del (p.Leu67fs) rs1554119814
NM_006772.3(SYNGAP1):c.200del (p.Leu67fs)
NM_006772.3(SYNGAP1):c.2014del (p.Thr672fs)
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) rs797046029
NM_006772.3(SYNGAP1):c.2075T>A (p.Leu692Gln)
NM_006772.3(SYNGAP1):c.2090G>A (p.Trp697Ter)
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) rs1554121861
NM_006772.3(SYNGAP1):c.2115+1G>C
NM_006772.3(SYNGAP1):c.2116-1G>A
NM_006772.3(SYNGAP1):c.2135_2142del (p.Gly712fs) rs1561787690
NM_006772.3(SYNGAP1):c.2147G>A (p.Arg716Gln) rs1060503384
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter) rs1554121924
NM_006772.3(SYNGAP1):c.2209C>T (p.Gln737Ter) rs1554121932
NM_006772.3(SYNGAP1):c.2215G>T (p.Glu739Ter) rs1554121934
NM_006772.3(SYNGAP1):c.2234del (p.Pro745fs) rs2151183929
NM_006772.3(SYNGAP1):c.2235_2238dup (p.Val747fs)
NM_006772.3(SYNGAP1):c.223G>T (p.Glu75Ter)
NM_006772.3(SYNGAP1):c.2266C>T (p.Gln756Ter) rs1554121960
NM_006772.3(SYNGAP1):c.2272dup (p.Tyr758fs) rs1561787845
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2350_2354dup (p.Pro787fs)
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2387dup (p.Pro797fs) rs1581995425
NM_006772.3(SYNGAP1):c.2391_2392dup (p.Pro798fs) rs1581995453
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2450C>G (p.Ser817Ter) rs2151188152
NM_006772.3(SYNGAP1):c.2485G>A (p.Glu829Lys)
NM_006772.3(SYNGAP1):c.2516dup (p.Ser840fs) rs2151188291
NM_006772.3(SYNGAP1):c.2538dup (p.Gln847fs) rs2151188326
NM_006772.3(SYNGAP1):c.2550del (p.Pro851fs)
NM_006772.3(SYNGAP1):c.2562_2578del (p.Leu855fs) rs1561788984
NM_006772.3(SYNGAP1):c.2578_2579del (p.Val860fs) rs879253762
NM_006772.3(SYNGAP1):c.2591_2592del (p.Ala864fs)
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) rs587780474
NM_006772.3(SYNGAP1):c.2667del (p.Arg890fs)
NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs) rs1581995953
NM_006772.3(SYNGAP1):c.2703_2715del (p.Ala902fs)
NM_006772.3(SYNGAP1):c.2717del (p.Leu906fs) rs2151188826
NM_006772.3(SYNGAP1):c.2726del (p.Met909fs) rs1561789215
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2758C>T (p.Gln920Ter)
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.276del (p.Arg93fs)
NM_006772.3(SYNGAP1):c.2776_2777del (p.Ser926fs)
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2818_2852del (p.Gly940fs) rs1561789313
NM_006772.3(SYNGAP1):c.2825dup (p.Gly943fs)
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.28del (p.Arg10fs)
NM_006772.3(SYNGAP1):c.2955_2958del (p.Ser985fs)
NM_006772.3(SYNGAP1):c.2970del (p.Val992fs)
NM_006772.3(SYNGAP1):c.3045dup (p.Asp1016Ter)
NM_006772.3(SYNGAP1):c.3055del (p.Arg1019fs)
NM_006772.3(SYNGAP1):c.3060del (p.Gln1021fs) rs1554122293
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) rs1554122296
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs) rs2151189924
NM_006772.3(SYNGAP1):c.3124C>T (p.Gln1042Ter) rs1554122305
NM_006772.3(SYNGAP1):c.312_315dup (p.Arg106fs)
NM_006772.3(SYNGAP1):c.3133_3134insGAGGTGGCCCAGAGGCCAGATCACCATTGGT (p.Ala1045fs)
NM_006772.3(SYNGAP1):c.3133del (p.Ala1045fs) rs2151190116
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) rs2151190135
NM_006772.3(SYNGAP1):c.3141_3142del (p.Gly1048fs) rs2151190159
NM_006772.3(SYNGAP1):c.3167_3188dup (p.Pro1065fs) rs1581996778
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs) rs1581996813
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
NM_006772.3(SYNGAP1):c.3190C>T (p.Gln1064Ter) rs1135401805
NM_006772.3(SYNGAP1):c.3213del (p.Lys1072fs)
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3244C>T (p.Gln1082Ter)
NM_006772.3(SYNGAP1):c.3265_3274dup (p.Leu1092fs)
NM_006772.3(SYNGAP1):c.3269dup (p.Asn1090fs) rs2151190684
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter) rs1554122363
NM_006772.3(SYNGAP1):c.3303del (p.Ala1102fs) rs2151190809
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter) rs1554122368
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3358_3359del (p.Gly1120fs)
NM_006772.3(SYNGAP1):c.3369_3380del (p.Gly1125_Gly1128del) rs2151191080
NM_006772.3(SYNGAP1):c.3370G>T (p.Gly1124Ter)
NM_006772.3(SYNGAP1):c.3377del (p.Gly1126fs) rs1581997228
NM_006772.3(SYNGAP1):c.3384dup (p.Leu1129fs)
NM_006772.3(SYNGAP1):c.3404_3407del (p.Lys1135fs)
NM_006772.3(SYNGAP1):c.3408+1G>C rs1554122402
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3432_3433insCCAC (p.Asn1145fs)
NM_006772.3(SYNGAP1):c.3452_3453del (p.Ala1150_Ser1151insTer) rs2151192910
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) rs1064796403
NM_006772.3(SYNGAP1):c.3505G>T (p.Glu1169Ter)
NM_006772.3(SYNGAP1):c.3516dup (p.Ile1173fs) rs2151193070
NM_006772.3(SYNGAP1):c.3535A>T (p.Lys1179Ter)
NM_006772.3(SYNGAP1):c.3553A>T (p.Lys1185Ter) rs1554122483
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs) rs1761207751
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) rs797046030
NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs) rs1582001015
NM_006772.3(SYNGAP1):c.359_381del (p.Gly120fs) rs1777174302
NM_006772.3(SYNGAP1):c.3606del (p.His1203fs) rs1761208393
NM_006772.3(SYNGAP1):c.3632del (p.Met1211fs) rs2151199347
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs) rs2151151998
NM_006772.3(SYNGAP1):c.3679del (p.Glu1227fs)
NM_006772.3(SYNGAP1):c.3681del (p.Glu1228fs)
NM_006772.3(SYNGAP1):c.3685C>T (p.Gln1229Ter) rs2151199529
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3732_3735del (p.Ser1244fs) rs1761212075
NM_006772.3(SYNGAP1):c.3751C>T (p.Gln1251Ter)
NM_006772.3(SYNGAP1):c.3754C>T (p.Gln1252Ter)
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs) rs869312677
NM_006772.3(SYNGAP1):c.3794+1G>A
NM_006772.3(SYNGAP1):c.3795-1G>A
NM_006772.3(SYNGAP1):c.3811G>T (p.Glu1271Ter) rs1554122888
NM_006772.3(SYNGAP1):c.384dup (p.Ser129fs) rs1554120498
NM_006772.3(SYNGAP1):c.387+1G>A rs1777175608
NM_006772.3(SYNGAP1):c.388-2A>G rs797045012
NM_006772.3(SYNGAP1):c.388-2del
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.388C>T (p.Gln130Ter) rs1175416158
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.404_410del (p.Arg135fs)
NM_006772.3(SYNGAP1):c.410del (p.Leu137fs) rs1581980317
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) rs121918315
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.438_448dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.478del (p.Leu160fs)
NM_006772.3(SYNGAP1):c.484_485insCT (p.Arg162fs)
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509+1G>T rs1561781989
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006772.3(SYNGAP1):c.510-1G>A rs2151161019
NM_006772.3(SYNGAP1):c.531_532del (p.Phe177fs)
NM_006772.3(SYNGAP1):c.539dup (p.His181fs) rs1561783309
NM_006772.3(SYNGAP1):c.604del (p.Glu202fs)
NM_006772.3(SYNGAP1):c.654_655del (p.Phe218fs) rs1777299176
NM_006772.3(SYNGAP1):c.67+1G>T
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006772.3(SYNGAP1):c.712G>T (p.Glu238Ter)
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978
NM_006772.3(SYNGAP1):c.745del (p.Ala249fs) rs1777307832
NM_006772.3(SYNGAP1):c.761dup (p.Asp255fs)
NM_006772.3(SYNGAP1):c.762+1G>T rs797046031
NM_006772.3(SYNGAP1):c.781_784del (p.Asp261fs) rs1581986872
NM_006772.3(SYNGAP1):c.812C>A (p.Ala271Asp)
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.840C>G (p.Tyr280Ter)
NM_006772.3(SYNGAP1):c.857_864dup (p.Met289fs) rs1554121189
NM_006772.3(SYNGAP1):c.85_86del (p.Met29fs)
NM_006772.3(SYNGAP1):c.878del (p.Arg293fs) rs1561784560
NM_006772.3(SYNGAP1):c.883_884del (p.Thr295fs) rs2151168687
NM_006772.3(SYNGAP1):c.896del (p.Arg299fs) rs863224930
NM_006772.3(SYNGAP1):c.91C>T (p.Arg31Ter) rs1554304655
NM_006772.3(SYNGAP1):c.929A>G (p.Glu310Gly)
NM_006772.3(SYNGAP1):c.937G>T (p.Glu313Ter) rs1554121207
NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro) rs1581987268
NM_006772.3(SYNGAP1):c.99del (p.Gln33fs) rs2151129654
NM_006841.6(SLC38A3):c.1049C>A (p.Ser350Ter) rs1368316485
NM_006841.6(SLC38A3):c.1119del (p.Val373_Leu374insTer) rs2109158868
NM_006841.6(SLC38A3):c.1123A>C (p.Thr375Pro) rs2109158872
NM_006841.6(SLC38A3):c.1212G>A (p.Trp404Ter) rs2109159077
NM_006841.6(SLC38A3):c.187G>T (p.Glu63Ter)
NM_006841.6(SLC38A3):c.855+1G>T rs2109157808
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del)
NM_006922.3(SCN3A):c.742T>C (p.Ser248Pro) rs2105890565
NM_006922.4(SCN3A):c.1945dup (p.Asp649fs)
NM_006922.4(SCN3A):c.2017G>T (p.Glu673Ter)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu) rs1057520753
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile) rs2105619771
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala) rs1553517274
NM_006922.4(SCN3A):c.585_586del (p.Phe195fs) rs2105895111
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1144del (p.Asp382fs)
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs) rs2147912678
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1385dup (p.Pro463fs) rs2147912440
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1500_1519del (p.Gly501fs)
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1682dup (p.Gln562fs) rs2147912165
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1769_1790dup (p.Gly599fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs) rs2147912005
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) rs2057941229
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.361G>T (p.Glu121Ter) rs1183386473
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.433_434del (p.Gln145fs) rs2147928664
NM_006950.3(SYN1):c.527+1G>T
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_006950.3(SYN1):c.769G>T (p.Glu257Ter)
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
NM_007198.4(PLPBP):c.207+1G>T
NM_007198.4(PLPBP):c.211C>T (p.Gln71Ter) rs2129775201
NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter) rs1057519273
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs) rs755595256
NM_007198.4(PLPBP):c.387del (p.Trp130fs)
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs) rs2074777487
NM_007254.4(PNKP):c.1059C>A (p.Cys353Ter) rs1337771339
NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs) rs1366190965
NM_007254.4(PNKP):c.1065del (p.Glu356fs)
NM_007254.4(PNKP):c.1126+1del
NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)
NM_007254.4(PNKP):c.113del (p.Leu38fs)
NM_007254.4(PNKP):c.1168G>T (p.Gly390Ter)
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs) rs1568659036
NM_007254.4(PNKP):c.1206G>A (p.Trp402Ter)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs) rs768847609
NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs) rs1600416052
NM_007254.4(PNKP):c.1264_1271del (p.Asp422fs)
NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)
NM_007254.4(PNKP):c.1270_1283dup (p.Ala429fs) rs746413622
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
NM_007254.4(PNKP):c.1285dup (p.Ala429fs)
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1299-1G>A
NM_007254.4(PNKP):c.1299-2A>G rs2122319491
NM_007254.4(PNKP):c.1299-5_1303del rs2122319422
NM_007254.4(PNKP):c.1311T>A (p.Cys437Ter) rs1309576866
NM_007254.4(PNKP):c.1314_1315del (p.Arg439fs)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1333del (p.Cys445fs)
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1390C>T (p.Arg464Ter) rs138249970
NM_007254.4(PNKP):c.1395_1396del (p.Glu465fs) rs1413085852
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1403_1406dup (p.Ser470fs)
NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs) rs2074757362
NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter) rs2074756863
NM_007254.4(PNKP):c.1448+2T>A rs1600414549
NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)
NM_007254.4(PNKP):c.1484_1502del (p.Phe495fs)
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1543dup (p.Tyr515fs) rs2122315348
NM_007254.4(PNKP):c.298dup (p.His100fs)
NM_007254.4(PNKP):c.36del (p.Glu13fs)
NM_007254.4(PNKP):c.394_395del (p.Asp132fs)
NM_007254.4(PNKP):c.47del (p.Pro16fs) rs1246416070
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.63del (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.756_760del (p.Thr253fs) rs2122333424
NM_007254.4(PNKP):c.762_765del (p.His254fs)
NM_007254.4(PNKP):c.808C>T (p.Gln270Ter) rs965965834
NM_007254.4(PNKP):c.847del (p.Asp283fs) rs2122329109
NM_007254.4(PNKP):c.916_917del (p.Phe306fs) rs2074784617
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.983_986del (p.Phe328fs)
NM_007254.4(PNKP):c.984del (p.Leu329fs) rs1163218519
NM_007254.4(PNKP):c.999_1005dup (p.Phe336fs)
NM_007325.5(GRIA3):c.2359G>A (p.Glu787Lys)
NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter) rs1554770057
NM_007327.4(GRIN1):c.1904T>G (p.Val635Gly)
NM_007327.4(GRIN1):c.1921A>T (p.Met641Leu) rs2131299136
NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) rs1554770659
NM_007327.4(GRIN1):c.394-1G>C rs2131216928
NM_012281.3(KCND2):c.1096G>T (p.Val366Phe)
NM_012281.3(KCND2):c.1207C>G (p.Pro403Ala) rs1792826036
NM_012281.3(KCND2):c.1208C>T (p.Pro403Leu) rs750457269
NM_012281.3(KCND2):c.1210G>A (p.Val404Met) rs587777631
NM_012281.3(KCND2):c.913C>T (p.Arg305Cys) rs1236737877
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012479.4(YWHAG):c.124C>T (p.Arg42Ter) rs2115589147
NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) rs1583981736
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter) rs1389455796
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.669G>T (p.Arg223Ser) rs1592380672
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu) rs1592380699
NM_014334.3(FRRS1L):c.25delG (p.Gly10Valfs)
NM_014334.4(FRRS1L):c.-23G>A
NM_014334.4(FRRS1L):c.-35_-16del
NM_014334.4(FRRS1L):c.121G>T (p.Gly41Ter) rs776257401
NM_014334.4(FRRS1L):c.145del (p.Asp49fs) rs933379958
NM_014334.4(FRRS1L):c.189C>G (p.Tyr63Ter)
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs) rs878853283
NM_014334.4(FRRS1L):c.300_301del (p.Cys100fs) rs1564232243
NM_014334.4(FRRS1L):c.321del (p.Phe107fs)
NM_014334.4(FRRS1L):c.431del (p.Val144fs) rs1831271059
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter) rs779716535
NM_014334.4(FRRS1L):c.517C>T (p.Gln173Ter) rs1564229174
NM_014334.4(FRRS1L):c.542G>A (p.Trp181Ter)
NM_014334.4(FRRS1L):c.564_576del (p.Asn188fs) rs2118467979
NM_014334.4(FRRS1L):c.566del (p.Pro189fs) rs1831184766
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTNNNNNNNNNNGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePheXaaXaaXaaXaaGlyTrpSerArgSerProAspLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2118467700
NM_014334.4(FRRS1L):c.618_619insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCACCTGCAGATTT (p.Lys207delinsPhePhePhePhePhePhePhePhePheXaaXaaThrSerTer)
NM_014334.4(FRRS1L):c.62del (p.Thr21fs) rs1382090523
NM_014334.4(FRRS1L):c.68_69del (p.Pro23fs) rs1382335133
NM_014334.4(FRRS1L):c.692G>A (p.Trp231Ter) rs878853281
NM_014334.4(FRRS1L):c.721C>T (p.Arg241Ter) rs1054228594
NM_014334.4(FRRS1L):c.808C>T (p.Gln270Ter) rs878853280
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) rs771849296
NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs) rs398122988
NM_014687.4(RUBCN):c.2624del (p.Ala875fs) rs587777235
NM_014687.4(RUBCN):c.2647-2A>G
NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del
NM_014795.3(ZEB2):c.3068-?_(*5076_?)del
NM_014795.3(ZEB2):c.404-?_(*5076_?)del
NM_014795.3:c.1439_1440insAlu
NM_014795.4(ZEB2):c.-69-1G>A rs587776612
NM_014795.4(ZEB2):c.1017del (p.Ser339_Val340insTer) rs1573717685
NM_014795.4(ZEB2):c.101_102del (p.Thr34fs)
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) rs786204815
NM_014795.4(ZEB2):c.1038_1039del (p.Asn346fs) rs2149877500
NM_014795.4(ZEB2):c.1052del (p.Gly351fs) rs2149877492
NM_014795.4(ZEB2):c.1077_1081del (p.Ser360fs) rs1703290664
NM_014795.4(ZEB2):c.1102C>T (p.Gln368Ter) rs886041338
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter) rs797046117
NM_014795.4(ZEB2):c.1161dup (p.Leu388fs)
NM_014795.4(ZEB2):c.1170del (p.Thr392fs) rs2149877432
NM_014795.4(ZEB2):c.1172_1182delinsTGACTTAAAATTAATG (p.Lys391_Pro394delinsMetThrTer) rs786204805
NM_014795.4(ZEB2):c.1173_1176del (p.Thr392fs) rs587776603
NM_014795.4(ZEB2):c.1185_1186insCAAT (p.Asp396delinsGlnTer)
NM_014795.4(ZEB2):c.1200_1201del (p.Tyr400_Lys401delinsTer) rs2149877421
NM_014795.4(ZEB2):c.1209del (p.Met404fs) rs2149877416
NM_014795.4(ZEB2):c.1218del (p.His407fs) rs727504226
NM_014795.4(ZEB2):c.1242_1249del (p.Phe415fs) rs2149877380
NM_014795.4(ZEB2):c.1257del (p.Gly421fs) rs786204801
NM_014795.4(ZEB2):c.1277T>A (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) rs786204807
NM_014795.4(ZEB2):c.1309C>T (p.Gln437Ter) rs760437173
NM_014795.4(ZEB2):c.1342del (p.Thr452fs)
NM_014795.4(ZEB2):c.1349_1350del (p.Phe450fs)
NM_014795.4(ZEB2):c.1364del (p.Ser455fs)
NM_014795.4(ZEB2):c.1381C>T (p.Gln461Ter) rs398124274
NM_014795.4(ZEB2):c.1387del (p.Val463fs) rs1573717173
NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) rs786204814
NM_014795.4(ZEB2):c.1420C>T (p.Gln474Ter) rs2149877279
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1434C>A (p.Cys478Ter) rs756778602
NM_014795.4(ZEB2):c.1474A>T (p.Lys492Ter)
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter) rs1553961702
NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) rs1553961695
NM_014795.4(ZEB2):c.1541_1548del (p.Pro514fs) rs1703280501
NM_014795.4(ZEB2):c.1556del (p.Asn519fs) rs1703280349
NM_014795.4(ZEB2):c.1564del (p.Thr522fs)
NM_014795.4(ZEB2):c.1570dup (p.Ser524fs) rs1560606974
NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)
NM_014795.4(ZEB2):c.1630_1631del (p.Thr544fs) rs2149877154
NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)
NM_014795.4(ZEB2):c.1645A>T (p.Arg549Ter) rs137852980
NM_014795.4(ZEB2):c.1653del (p.Ser552fs) rs786204820
NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) rs786204819
NM_014795.4(ZEB2):c.1700_1703del (p.Thr567fs)
NM_014795.4(ZEB2):c.1700_1703dup (p.Asp568_Asp569insTer) rs2149877112
NM_014795.4(ZEB2):c.1747del (p.Cys583fs) rs2149877082
NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) rs786204808
NM_014795.4(ZEB2):c.1754del (p.Phe585fs) rs786204809
NM_014795.4(ZEB2):c.1770del (p.Pro591fs) rs1703277223
NM_014795.4(ZEB2):c.178_190delinsGTT (p.Thr60fs) rs730881215
NM_014795.4(ZEB2):c.1848del (p.His617fs) rs2149877032
NM_014795.4(ZEB2):c.1862del (p.Val621fs) rs587776611
NM_014795.4(ZEB2):c.1866dup (p.Asn623fs) rs2149877017
NM_014795.4(ZEB2):c.1870A>T (p.Lys624Ter)
NM_014795.4(ZEB2):c.1876G>T (p.Gly626Ter) rs727504224
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.1892del (p.Asn631fs) rs587776607
NM_014795.4(ZEB2):c.1907dup (p.Leu636fs)
NM_014795.4(ZEB2):c.1910C>A (p.Ser637Ter)
NM_014795.4(ZEB2):c.1944del (p.Ile649fs) rs786204803
NM_014795.4(ZEB2):c.194_195del (p.Val65fs) rs1573743951
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter) rs587784563
NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) rs786204818
NM_014795.4(ZEB2):c.198del (p.Asn67fs)
NM_014795.4(ZEB2):c.2024del (p.Leu675fs)
NM_014795.4(ZEB2):c.2038_2152dup (p.Asn718delinsSerCysGlyProSerSerGlyIleCysGluGlyMetValTer) rs1553961598
NM_014795.4(ZEB2):c.2056G>T (p.Glu686Ter) rs2149876873
NM_014795.4(ZEB2):c.2061del (p.Phe687fs) rs797046118
NM_014795.4(ZEB2):c.2064del (p.Lys689fs) rs2149876861
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter) rs1553961610
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2087_2088del (p.Lys696fs)
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter) rs1573716158
NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) rs786204802
NM_014795.4(ZEB2):c.2122del (p.Leu708fs) rs2149876829
NM_014795.4(ZEB2):c.2177_2178del (p.Ser726fs) rs1703269824
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) rs786204810
NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)
NM_014795.4(ZEB2):c.2211_2214dup (p.Ile739fs) rs1553961585
NM_014795.4(ZEB2):c.2227del (p.Ser743fs) rs1553961580
NM_014795.4(ZEB2):c.2228_2229del (p.Ser743fs) rs730881211
NM_014795.4(ZEB2):c.2242dup (p.His748fs)
NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)
NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) rs786204812
NM_014795.4(ZEB2):c.2288del (p.Pro763fs)
NM_014795.4(ZEB2):c.2303del (p.Asn768fs) rs1703267358
NM_014795.4(ZEB2):c.2337del (p.Ser780fs) rs1560606294
NM_014795.4(ZEB2):c.234_235del (p.Leu79fs) rs1553964147
NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)
NM_014795.4(ZEB2):c.236_239del (p.Leu78_Leu79insTer) rs1560620837
NM_014795.4(ZEB2):c.2374dup (p.Ser792fs) rs2149876649
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs) rs797046119
NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter) rs1703265228
NM_014795.4(ZEB2):c.2453dup (p.Leu818fs) rs587776606
NM_014795.4(ZEB2):c.2476G>T (p.Glu826Ter)
NM_014795.4(ZEB2):c.2501del (p.Lys834fs) rs587784565
NM_014795.4(ZEB2):c.2531T>G (p.Leu844Ter)
NM_014795.4(ZEB2):c.2555C>G (p.Ser852Ter) rs137852982
NM_014795.4(ZEB2):c.2577dup (p.Leu860fs)
NM_014795.4(ZEB2):c.2592del (p.Phe864fs) rs2149876500
NM_014795.4(ZEB2):c.2630dup (p.Asn877fs)
NM_014795.4(ZEB2):c.2635_2649delinsTAA (p.Ser879_Val883delinsTer)
NM_014795.4(ZEB2):c.2645dup (p.Val883fs)
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs) rs878855329
NM_014795.4(ZEB2):c.2682del (p.Leu894fs)
NM_014795.4(ZEB2):c.2687_2688dup (p.Ala897fs) rs786204804
NM_014795.4(ZEB2):c.2688dup (p.Ala897fs) rs1553961510
NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) rs794727924
NM_014795.4(ZEB2):c.2717del (p.Pro906fs) rs2149876411
NM_014795.4(ZEB2):c.2718del (p.Ala907fs)
NM_014795.4(ZEB2):c.2745del (p.Ser916fs) rs2149876398
NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)
NM_014795.4(ZEB2):c.2757del (p.Leu920fs) rs1560605892
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.2769C>A (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2769C>G (p.Tyr923Ter)
NM_014795.4(ZEB2):c.2806del (p.Ala936fs) rs1553961487
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
NM_014795.4(ZEB2):c.2875C>T (p.Gln959Ter)
NM_014795.4(ZEB2):c.2886+1G>A rs1703257054
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter) rs797046120
NM_014795.4(ZEB2):c.289del (p.Trp97fs) rs727503784
NM_014795.4(ZEB2):c.2908C>T (p.Gln970Ter) rs1057518185
NM_014795.4(ZEB2):c.2915_2918dup (p.Met973fs)
NM_014795.4(ZEB2):c.2958_2961del (p.Ser987fs) rs1703231612
NM_014795.4(ZEB2):c.2986_2987del (p.Ser996fs) rs1553961343
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer) rs1573713477
NM_014795.4(ZEB2):c.3002del (p.Cys1001fs) rs730881212
NM_014795.4(ZEB2):c.3018dup (p.Thr1007fs)
NM_014795.4(ZEB2):c.3025C>T (p.Gln1009Ter) rs1560604977
NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.4(ZEB2):c.3056dup (p.Tyr1019Ter)
NM_014795.4(ZEB2):c.3067+2T>C
NM_014795.4(ZEB2):c.3073del (p.Arg1025fs) rs730881217
NM_014795.4(ZEB2):c.3077_3084dup (p.Cys1029fs)
NM_014795.4(ZEB2):c.3094del (p.Cys1032fs) rs2149872716
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs) rs1060500653
NM_014795.4(ZEB2):c.3100_3103del (p.Lys1034fs)
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter) rs1553960793
NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter) rs753880265
NM_014795.4(ZEB2):c.3134A>G (p.His1045Arg) rs397515449
NM_014795.4(ZEB2):c.3134A>T (p.His1045Leu)
NM_014795.4(ZEB2):c.3134del (p.His1045fs) rs2149872686
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter) rs797046121
NM_014795.4(ZEB2):c.313del (p.Ala105fs) rs2149891139
NM_014795.4(ZEB2):c.3154G>T (p.Glu1052Ter) rs2149872664
NM_014795.4(ZEB2):c.3161_3162del (p.Pro1054fs)
NM_014795.4(ZEB2):c.3166C>T (p.Gln1056Ter)
NM_014795.4(ZEB2):c.3170G>A (p.Cys1057Tyr) rs1135401790
NM_014795.4(ZEB2):c.3171_3172del (p.Cys1057_Asp1058delinsTer)
NM_014795.4(ZEB2):c.3179G>C (p.Cys1060Ser)
NM_014795.4(ZEB2):c.3195dup (p.His1066fs) rs730881213
NM_014795.4(ZEB2):c.3198_3202del (p.His1066fs) rs2149872642
NM_014795.4(ZEB2):c.31del (p.Arg11fs) rs2149935159
NM_014795.4(ZEB2):c.3203del (p.Gly1068fs)
NM_014795.4(ZEB2):c.3206C>A (p.Ser1069Ter) rs1553960778
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) rs2149872634
NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)
NM_014795.4(ZEB2):c.3211T>C (p.Ser1071Pro) rs397515448
NM_014795.4(ZEB2):c.3213_3214insGG (p.Gln1072fs)
NM_014795.4(ZEB2):c.3221del (p.Met1074fs)
NM_014795.4(ZEB2):c.3242G>A (p.Cys1081Tyr) rs2149872616
NM_014795.4(ZEB2):c.331+1G>T rs1703742764
NM_014795.4(ZEB2):c.3356A>G (p.Gln1119Arg) rs137852983
NM_014795.4(ZEB2):c.3359_3364delinsTAATG (p.Gly1120fs) rs398124280
NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) rs786204816
NM_014795.4(ZEB2):c.3499del (p.Ser1167fs) rs730881218
NM_014795.4(ZEB2):c.351T>A (p.Tyr117Ter) rs1560618505
NM_014795.4(ZEB2):c.3566_3567dup (p.Met1190fs) rs587776609
NM_014795.4(ZEB2):c.365del (p.Pro122fs)
NM_014795.4(ZEB2):c.425C>G (p.Ser142Ter)
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs) rs1573722407
NM_014795.4(ZEB2):c.432dup (p.Glu145Ter) rs1560609810
NM_014795.4(ZEB2):c.460del (p.Glu154fs) rs786204817
NM_014795.4(ZEB2):c.463G>T (p.Glu155Ter)
NM_014795.4(ZEB2):c.477_484del (p.His159fs)
NM_014795.4(ZEB2):c.481del (p.Val161fs) rs1553962198
NM_014795.4(ZEB2):c.484_486delinsGCCTCGCTAACCTCGCCTTACCCCCCACTATTAACCTACTGGGAGAACTCTCTGTGCTAGTAACCACGTTCTCCTGATCAAATATCACTCTCCTACTTACAGGACTCAACATACTAGTCACAGCCCT (p.Ser162delinsAlaSerLeuThrSerProTyrProProLeuLeuThrTyrTrpGluAsnSerLeuCysTer) rs2149879709
NM_014795.4(ZEB2):c.493G>T (p.Glu165Ter) rs1314954470
NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter) rs1560609721
NM_014795.4(ZEB2):c.540del (p.Glu181fs)
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs) rs587784568
NM_014795.4(ZEB2):c.553_554insTG (p.Arg185fs) rs587776608
NM_014795.4(ZEB2):c.585del (p.Glu196fs) rs1573722122
NM_014795.4(ZEB2):c.621dup (p.Ala208fs)
NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter) rs527679524
NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs) rs398124281
NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)
NM_014795.4(ZEB2):c.656del (p.Gly219fs) rs1573721242
NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) rs111724246
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter) rs797046122
NM_014795.4(ZEB2):c.67A>T (p.Lys23Ter) rs1705170374
NM_014795.4(ZEB2):c.696C>A (p.Tyr232Ter) rs1060503990
NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)
NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter) rs1553962069
NM_014795.4(ZEB2):c.703del (p.Glu235fs) rs786204806
NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter) rs2149879206
NM_014795.4(ZEB2):c.715del (p.Glu239fs)
NM_014795.4(ZEB2):c.71del (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.71dup (p.Asn24fs) rs1553971826
NM_014795.4(ZEB2):c.73+1G>A rs2149935109
NM_014795.4(ZEB2):c.73+1del rs786204813
NM_014795.4(ZEB2):c.73+2T>C rs398124282
NM_014795.4(ZEB2):c.760_761dup (p.Gln255fs) rs587776605
NM_014795.4(ZEB2):c.769G>T (p.Glu257Ter) rs1703347173
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs) rs1573721065
NM_014795.4(ZEB2):c.776dup (p.His259fs) rs1703347063
NM_014795.4(ZEB2):c.791del (p.Lys264fs)
NM_014795.4(ZEB2):c.808-2A>G rs1560607925
NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)
NM_014795.4(ZEB2):c.818_821dup (p.Gln275fs) rs2149877994
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter) rs587784570
NM_014795.4(ZEB2):c.846del (p.Phe282fs)
NM_014795.4(ZEB2):c.857_858del (p.Glu286fs) rs1573718630
NM_014795.4(ZEB2):c.858del (p.Glu286fs)
NM_014795.4(ZEB2):c.874A>T (p.Lys292Ter) rs2149877963
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs) rs2149877962
NM_014795.4(ZEB2):c.901del (p.Leu301fs)
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_014795.4(ZEB2):c.904del (p.Arg302fs)
NM_014795.4(ZEB2):c.916+5G>A rs1703305546
NM_014795.4(ZEB2):c.916+6T>G
NM_014795.4(ZEB2):c.917-1G>A
NM_014795.4(ZEB2):c.917-2A>G
NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)
NM_014795.4(ZEB2):c.999del (p.Lys333fs) rs730881208
NM_014849.5(SV2A):c.865C>T (p.Arg289Ter)
NM_014905.5(GLS):c.1460dup (p.Ile488fs) rs2124915767
NM_014905.5(GLS):c.241C>T (p.Gln81Ter) rs1559310284
NM_014905.5(GLS):c.695dup (p.Asp232fs) rs1558971345
NM_014905.5(GLS):c.815G>A (p.Arg272Lys) rs1558972120
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) rs1779473650
NM_015076.5(CDK19):c.82G>A (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.82G>C (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) rs1783518295
NM_015076.5(CDK19):c.94T>C (p.Tyr32His) rs1236246272
NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)
NM_015176.4(FBXO28):c.1027G>T (p.Glu343Ter)
NM_015176.4(FBXO28):c.1042C>G (p.Arg348Gly) rs2102638590
NM_015176.4(FBXO28):c.1043G>T (p.Arg348Leu) rs1553292987
NM_015176.4(FBXO28):c.1066_1067del (p.Asp356fs) rs2102638612
NM_015176.4(FBXO28):c.1078A>T (p.Lys360Ter) rs2102638631
NM_015176.4(FBXO28):c.191T>G (p.Leu64Arg) rs2102604634
NM_015176.4(FBXO28):c.972_973delinsG (p.Arg325fs) rs2102638530
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly) rs1554504681
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln) rs1554504684
NM_015192.4(PLCB1):c.1087del (p.Asp363fs)
NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter) rs1600278094
NM_015192.4(PLCB1):c.1678dup (p.Arg561fs)
NM_015192.4(PLCB1):c.2155del (p.Gln719fs)
NM_015192.4(PLCB1):c.2443C>T (p.Arg815Ter)
NM_015192.4(PLCB1):c.2666del (p.Lys889fs) rs1981959745
NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)
NM_015192.4(PLCB1):c.3382C>T (p.His1128Tyr) rs1555790846
NM_015192.4(PLCB1):c.569del (p.Glu190fs)
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.967del (p.Ser323fs) rs2123399674
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015213.4(DENND5A):c.2547del (p.Lys850fs) rs1057519308
NM_015213.4(DENND5A):c.3811del (p.Gln1271fs) rs1057519310
NM_015213.4(DENND5A):c.517_518del (p.Asp173fs) rs1057519307
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)
NM_015509.4(NECAP1):c.301+1G>A rs1947531929
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661
NM_016023.5(OTUD6B):c.189_190del (p.His63fs) rs779499353
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) rs759317757
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs) rs1472577530
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter) rs772032719
NM_016023.5(OTUD6B):c.83-1del
NM_016023.5(OTUD6B):c.83-2A>G rs1064797102
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_016188.5(ACTL6B):c.1114-1G>A
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
NM_016188.5(ACTL6B):c.1267C>T (p.Arg423Ter)
NM_016188.5(ACTL6B):c.279G>A (p.Trp93Ter)
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.604C>T (p.Gln202Ter)
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.628del (p.Met210fs)
NM_016188.5(ACTL6B):c.695del (p.Pro232fs) rs779550102
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
NM_016188.5(ACTL6B):c.703AAG[2] (p.Lys237del)
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016188.5(ACTL6B):c.832C>T (p.Gln278Ter)
NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) rs1562848142
NM_016263.4(FZR1):c.559G>A (p.Asp187Asn)
NM_016263.4(FZR1):c.560A>G (p.Asp187Gly)
NM_016263.4(FZR1):c.999C>A (p.Asn333Lys)
NM_016263.4(FZR1):c.999C>G (p.Asn333Lys)
NM_016373.3(WWOX):c.-366-?_516+?del
NM_016373.4(WWOX):c.1005G>A (p.Trp335Ter) rs730880290
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
NM_016373.4(WWOX):c.1043del (p.Phe348fs) rs1064795117
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter) rs770155582
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+1_107+2delinsTA
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs) rs2051756247
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter) rs375757102
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter) rs1284883505
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter) rs1057517846
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr) rs587777128
NM_016373.4(WWOX):c.140C>G (p.Pro47Arg) rs730880292
NM_016373.4(WWOX):c.173-1G>C
NM_016373.4(WWOX):c.173-1G>T
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) rs775696083
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter) rs990150249
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter) rs373306276
NM_016373.4(WWOX):c.333del (p.Thr112fs) rs2151674791
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg) rs1567567249
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.409+1G>T rs1060502727
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.516+62335_517-3413del
NM_016373.4(WWOX):c.517-1G>T rs867163041
NM_016373.4(WWOX):c.517-44258_606-268del
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter) rs1567542020
NM_016373.4(WWOX):c.606-1778_792-2744del
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016373.4(WWOX):c.730C>T (p.Gln244Ter) rs752354290
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter) rs878855021
NM_016373.4(WWOX):c.808_811dup (p.Ser271Ter)
NM_016373.4(WWOX):c.854dup (p.Asn285fs) rs1394607357
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_016373.4:c.517-11252_606-17640del
NM_016373.4:c.517-94998_1056+78427del
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter) rs879255601
NM_016614.3(TDP2):c.650del (p.Gly217fs) rs1778000792
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter) rs142438588
NM_018129.3(PNPO):c.620delG
NM_018129.4(PNPO):c.123C>A (p.Tyr41Ter)
NM_018129.4(PNPO):c.205delinsTTTCCCCT (p.Ala69fs) rs2035968630
NM_018129.4(PNPO):c.246del (p.Leu83fs)
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) rs1483600034
NM_018129.4(PNPO):c.346C>T (p.Arg116Ter) rs148839273
NM_018129.4(PNPO):c.364-1G>C
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) rs766311956
NM_018129.4(PNPO):c.412C>T (p.Arg138Cys)
NM_018129.4(PNPO):c.421C>T (p.Arg141Cys)
NM_018129.4(PNPO):c.422_433del (p.Arg141_Gly144del)
NM_018129.4(PNPO):c.448_451del (p.Pro150fs) rs796052872
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) rs146027425
NM_018129.4(PNPO):c.520C>T (p.Gln174Ter) rs267606958
NM_018129.4(PNPO):c.546+1G>A
NM_018129.4(PNPO):c.674G>A (p.Arg225His)
NM_018129.4(PNPO):c.674G>T (p.Arg225Leu) rs550423482
NM_018129.4(PNPO):c.69dup (p.His24fs)
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) rs104894631
NM_018359.5(UFSP2):c.110_111del (p.His37fs)
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) rs974157467
NM_018941.4(CLN8):c.1del (p.Met1*)
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly) rs104894064
NM_020151.3(STARD7):c.291-1572_291-1518ATTTT[376]ATTTC[274]
NM_020705.2(TBC1D24):c.[338C>A];[476T>C]
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) rs1600590580
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)
NM_020708.5(SLC12A5):c.1492dup (p.Ala498fs) rs2145493702
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter) rs2145496676
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter) rs2145496726
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter)
NM_020708.5(SLC12A5):c.2009G>A (p.Trp670Ter)
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)
NM_020708.5(SLC12A5):c.2161C>T (p.Gln721Ter)
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) rs2084648529
NM_020708.5(SLC12A5):c.2297del (p.Leu766fs)
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs) rs2145502127
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter) rs2145503665
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) rs2084424489
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs) rs2145503701
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer)
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs) rs2145507682
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer)
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) rs2084424722
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs) rs2145484584
NM_020708.5(SLC12A5):c.542del (p.Gly181fs)
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs) rs1555863145
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020708.5(SLC12A5):c.962del (p.Phe321fs)
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter)
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) rs1555863593
NM_020771.4(HACE1):c.152C>G (p.Ser51Ter)
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter) rs1582418143
NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs) rs751809418
NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter) rs869025281
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr) rs1319508199
NM_020771.4(HACE1):c.240C>A (p.Cys80Ter) rs761086584
NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del) rs869025283
NM_020771.4(HACE1):c.355G>T (p.Glu119Ter) rs2115167557
NM_020771.4(HACE1):c.454C>T (p.Gln152Ter) rs869025284
NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) rs1481122214
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1420C>A (p.Arg474Ser) rs866242631
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) rs370521183
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly) rs150395210
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.2943+1G>C rs1833833144
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.785G>C (p.Arg262Pro)
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe) rs1057522914
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp) rs886041715
NM_020988.3(GNAO1):c.119G>C (p.Gly40Ala)
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg) rs2143272046
NM_020988.3(GNAO1):c.130T>C (p.Ser44Pro)
NM_020988.3(GNAO1):c.133G>T (p.Gly45Ter)
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) rs2143272162
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) rs1596787821
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro)
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) rs2143272260
NM_020988.3(GNAO1):c.17G>T (p.Ser6Ile)
NM_020988.3(GNAO1):c.398_402dup (p.Ser135fs)
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro) rs2143660403
NM_020988.3(GNAO1):c.502T>G (p.Tyr168Asp)
NM_020988.3(GNAO1):c.510del (p.Thr171fs)
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) rs587777055
NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter) rs2037724762
NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del) rs587777056
NM_020988.3(GNAO1):c.596T>C (p.Leu199Pro) rs2143664797
NM_020988.3(GNAO1):c.602A>T (p.Asp201Val) rs2143664808
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) rs587777057
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg) rs2143664861
NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu) rs1297225571
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe) rs1057518440
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) rs886039494
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) rs797044878
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.631A>C (p.Lys211Gln)
NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys) rs1555507477
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_020988.3(GNAO1):c.723+1G>A rs1596872804
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) rs797044951
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) rs2143699618
NM_020988.3(GNAO1):c.759dup (p.Ile254fs) rs2037920369
NM_020988.3(GNAO1):c.807_808delinsAC (p.Asn270His)
NM_020988.3(GNAO1):c.813G>T (p.Lys271Asn) rs758779535
NM_020988.3(GNAO1):c.818A>T (p.Asp273Val) rs2037920694
NM_020988.3(GNAO1):c.830AGA[1] (p.Lys278del) rs2037920791
NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) rs587777054
NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser) rs1555508316
NM_020988.3(GNAO1):c.871T>A (p.Tyr291Asn) rs1064795384
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) rs2112040738
NM_021072.4(HCN1):c.1159G>T (p.Ala387Ser) rs2112040690
NM_021072.4(HCN1):c.1160C>G (p.Ala387Gly)
NM_021072.4(HCN1):c.1169T>C (p.Val390Ala) rs2112040676
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1171G>T (p.Gly391Cys)
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.1172G>T (p.Gly391Val) rs1057519547
NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly) rs2112040633
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.1240G>A (p.Val414Met) rs1561120793
NM_021072.4(HCN1):c.1522G>A (p.Val508Met) rs180790607
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) rs1745671912
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln) rs1561081319
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_021072.4(HCN1):c.469C>G (p.Leu157Val) rs1561230606
NM_021072.4(HCN1):c.585G>T (p.Arg195Ser)
NM_021072.4(HCN1):c.701A>T (p.Tyr234Phe) rs1554037381
NM_021072.4(HCN1):c.728T>G (p.Met243Arg) rs1561230486
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys) rs763339068
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) rs587777493
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) rs587777494
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) rs1057521989
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser) rs1318391259
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter) rs561672108
NM_021267.5(CERS1):c.549C>G (p.His183Gln) rs200024180
NM_022080.3(NAPB):c.173G>A (p.Trp58Ter) rs1984959750
NM_022080.3(NAPB):c.333C>A (p.Tyr111Ter)
NM_022080.3(NAPB):c.421-1G>A rs1983849974
NM_022080.3(NAPB):c.479C>A (p.Ser160Ter) rs876661300
NM_022765.4(MICAL1):c.-43-1G>A rs2115340270
NM_022786.3(ARV1):c.175-3_175-2inv
NM_022786.3(ARV1):c.518dup (p.Pro174fs) rs544784472
NM_022786.3(ARV1):c.674-2A>T rs1192627743
NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr) rs886039760
NM_024818.6(UBA5):c.160dup (p.Ser54fs) rs1938110760
NM_024818.6(UBA5):c.164G>A (p.Arg55His) rs774318611
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.367_368insGA (p.Ala123fs)
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.707del (p.Ala236fs)
NM_024818.6(UBA5):c.761T>C (p.Leu254Pro) rs2107943727
NM_024818.6(UBA5):c.778G>A (p.Val260Met) rs886039759
NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter) rs745968949
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter) rs886039757
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_024818.6(UBA5):c.971_972insC (p.Lys324fs) rs886039758
NM_030630.3(HID1):c.2318dup (p.Val774fs) rs2039300041
NM_030630.3(HID1):c.560G>A (p.Gly187Asp) rs2039494684
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met) rs2127450867
NM_030948.6(PHACTR1):c.1436A>T (p.Asn479Ile) rs1562103192
NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro) rs1562114406
NM_031844.3(HNRNPU):c.1060_1061del (p.Asp353_Ile354insTer) rs2102987471
NM_031844.3(HNRNPU):c.1085G>T (p.Gly362Val)
NM_031844.3(HNRNPU):c.1102dup (p.Ser368fs)
NM_031844.3(HNRNPU):c.1118-1G>A rs2102987183
NM_031844.3(HNRNPU):c.1122del (p.Glu375fs)
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile) rs2102991012
NM_031844.3(HNRNPU):c.1137dup (p.Gly380fs) rs1553282754
NM_031844.3(HNRNPU):c.1157dup (p.Thr388fs) rs2102987155
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
NM_031844.3(HNRNPU):c.1230+1G>C rs2102987091
NM_031844.3(HNRNPU):c.1282del (p.Gly429fs) rs2102986749
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) rs2102986721
NM_031844.3(HNRNPU):c.1429C>T (p.Gln477Ter) rs1680727391
NM_031844.3(HNRNPU):c.143_149del (p.Gly48fs) rs2102990974
NM_031844.3(HNRNPU):c.1463del (p.Pro488fs)
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)
NM_031844.3(HNRNPU):c.1491_1492dup (p.Glu498fs) rs1680725785
NM_031844.3(HNRNPU):c.1539G>A (p.Trp513Ter)
NM_031844.3(HNRNPU):c.1639del (p.Ala547fs)
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) rs1680691597
NM_031844.3(HNRNPU):c.1665_1666del (p.Leu556fs) rs2102985889
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) rs1573330458
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794
NM_031844.3(HNRNPU):c.1749del (p.Asn583fs)
NM_031844.3(HNRNPU):c.1765del (p.Gln589fs)
NM_031844.3(HNRNPU):c.1807G>A (p.Ala603Thr)
NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) rs1057524916
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs) rs2102985675
NM_031844.3(HNRNPU):c.191_206del (p.Gly64fs) rs1553284007
NM_031844.3(HNRNPU):c.1A>C (p.Met1Leu)
NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter) rs2102985419
NM_031844.3(HNRNPU):c.2210dup (p.Gln738fs) rs2102985060
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter) rs773969888
NM_031844.3(HNRNPU):c.2256_2260del (p.Tyr753fs) rs2102985018
NM_031844.3(HNRNPU):c.226C>T (p.Gln76Ter)
NM_031844.3(HNRNPU):c.2277dup (p.Pro760fs)
NM_031844.3(HNRNPU):c.2291_2294dup (p.Tyr765Ter) rs2102984978
NM_031844.3(HNRNPU):c.2295_2298del (p.Ser764_Tyr765insTer)
NM_031844.3(HNRNPU):c.2299_2302del (p.Asn767fs) rs878855133
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs) rs794729648
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_031844.3(HNRNPU):c.245del (p.Gly82fs)
NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) rs1057524914
NM_031844.3(HNRNPU):c.307C>T (p.Gln103Ter) rs1553283951
NM_031844.3(HNRNPU):c.325G>T (p.Glu109Ter) rs1680930166
NM_031844.3(HNRNPU):c.336_351del (p.Ala113fs)
NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) rs1553283899
NM_031844.3(HNRNPU):c.490C>T (p.Gln164Ter)
NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) rs1057524915
NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter) rs886041983
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) rs1333692140
NM_031844.3(HNRNPU):c.584del (p.Ala195fs)
NM_031844.3(HNRNPU):c.621dup (p.Gln208fs)
NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) rs1573337552
NM_031844.3(HNRNPU):c.632dup (p.Gly212fs)
NM_031844.3(HNRNPU):c.650_656del (p.Glu217fs)
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031844.3(HNRNPU):c.669_691dup (p.Gly231fs) rs754216321
NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs)
NM_031844.3(HNRNPU):c.730_731del (p.Arg244fs) rs2102989487
NM_031844.3(HNRNPU):c.734_738dup (p.Lys247fs)
NM_031844.3(HNRNPU):c.794dup (p.Tyr266fs)
NM_031844.3(HNRNPU):c.79del (p.Asp27fs)
NM_031844.3(HNRNPU):c.804-9_804-6del rs2102989400
NM_031844.3(HNRNPU):c.89_179del (p.Leu30fs)
NM_031844.3(HNRNPU):c.943_944dup (p.Ser315fs)
NM_031844.3(HNRNPU):c.998_999del (p.Lys333fs)
NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs) rs1977106116
NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs) rs1977105425
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs) rs1443687532
NM_032108.4(SEMA6B):c.2067_2070delinsAGCA (p.Trp689_Ala690delinsTer)
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu) rs2150388869
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr) rs797045143
NM_033453.4(ITPA):c.124+2T>C rs1408254396
NM_033453.4(ITPA):c.142G>T (p.Glu48Ter)
NM_033453.4(ITPA):c.263+583_295+1203del
NM_033453.4(ITPA):c.264-607_295+1267del
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_052874.5(STX1B):c.140C>A (p.Ser47Ter) rs200979563
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter) rs2143677745
NM_052874.5(STX1B):c.165dup (p.Gln56fs) rs1596719437
NM_052874.5(STX1B):c.166C>T (p.Gln56Ter) rs724159973
NM_052874.5(STX1B):c.205_205+1del rs2143677618
NM_052874.5(STX1B):c.214C>T (p.Gln72Ter) rs2143677351
NM_052874.5(STX1B):c.252_257delinsAT (p.Ala85fs) rs2056624422
NM_052874.5(STX1B):c.286G>T (p.Glu96Ter) rs2143671037
NM_052874.5(STX1B):c.2T>A (p.Met1Lys)
NM_052874.5(STX1B):c.334del (p.Leu112fs) rs2143670891
NM_052874.5(STX1B):c.338_354+15del
NM_052874.5(STX1B):c.340_354+123del
NM_052874.5(STX1B):c.354+1G>C
NM_052874.5(STX1B):c.35_36dup (p.Asp13fs) rs1567379671
NM_052874.5(STX1B):c.366del (p.Ser123fs)
NM_052874.5(STX1B):c.382del (p.Glu128fs)
NM_052874.5(STX1B):c.394G>T (p.Glu132Ter) rs1567378099
NM_052874.5(STX1B):c.39del (p.Asp13fs)
NM_052874.5(STX1B):c.404del (p.Ala135fs) rs1596716888
NM_052874.5(STX1B):c.430T>C (p.Cys144Arg) rs2143669286
NM_052874.5(STX1B):c.451C>T (p.Gln151Ter)
NM_052874.5(STX1B):c.463+1G>A rs2056596353
NM_052874.5(STX1B):c.463+5G>T rs1596716834
NM_052874.5(STX1B):c.537+2T>C rs1555494222
NM_052874.5(STX1B):c.565C>T (p.Gln189Ter)
NM_052874.5(STX1B):c.647T>A (p.Val216Glu) rs724159974
NM_052874.5(STX1B):c.676G>C (p.Gly226Arg) rs727502806
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) rs780843272
NM_052874.5(STX1B):c.786+1G>A
NM_052874.5(STX1B):c.786+1G>T
NM_052874.5(STX1B):c.815del (p.Val272fs)
NM_052874.5(STX1B):c.[133_134insGGATGTGCATTG;135_136delinsGA]
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) rs2084286884
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) rs2084286911
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) rs2084286998
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met) rs2145649990
NM_080552.3(SLC32A1):c.806T>A (p.Leu269Gln)
NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys) rs2145650130
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) rs2084284179
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1120-2A>G rs2147320644
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) rs2147320638
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) rs2048682045
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1443dup (p.Gly482fs) rs2147320305
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) rs1601945626
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup) rs2147324381
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup) rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup) rs1365611175
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
NM_139058.3(ARX):c.409del (p.Glu137fs)
NM_139058.3(ARX):c.422_454dup (p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaAla)
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) rs1556056154
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup) rs1556056125
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.457del (p.Ala153fs)
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.642_645del (p.Pro215fs) rs2147323943
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.880G>T (p.Glu294Ter)
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) rs2048708701
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139137.4(KCNC2):c.1052G>A (p.Arg351Lys) rs2136944684
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
NM_139137.4(KCNC2):c.1309A>G (p.Thr437Ala) rs2136943757
NM_139137.4(KCNC2):c.1411G>C (p.Val471Leu) rs2136943353
NM_139137.4(KCNC2):c.375C>G (p.Cys125Trp) rs61735712
NM_139137.4(KCNC2):c.404A>G (p.Glu135Gly) rs2137828445
NM_139137.4(KCNC2):c.499G>T (p.Asp167Tyr) rs2137827783
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_145239.3(PRRT2):c.-65-1G>A rs1900052727
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
NM_145239.3(PRRT2):c.291del (p.Asn98fs) rs730882073
NM_145239.3(PRRT2):c.397del (p.Glu133fs)
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.879+5G>A rs1596893185
NM_145239.3(PRRT2):c.880-1G>T rs1596893952
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_152221.3(CSNK1E):c.885+1G>A rs1569077009
NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer) rs730882152
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1081T>C (p.Ser361Pro) rs2145972497
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs) rs2145972429
NM_152296.5(ATP1A3):c.1807-2A>T
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2479A>T (p.Arg827Trp)
NM_152296.5(ATP1A3):c.2552A>C (p.Gln851Pro)
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.875T>G (p.Leu292Arg) rs2145977887
NM_152296.5(ATP1A3):c.947G>T (p.Gly316Val) rs2145977758
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152743.4(BRAT1):c.1007del (p.Gly336fs) rs2128393384
NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) rs754341393
NM_152743.4(BRAT1):c.104G>A (p.Trp35Ter)
NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) rs1562596651
NM_152743.4(BRAT1):c.1083_1095del (p.Gly363fs) rs1188555703
NM_152743.4(BRAT1):c.1123del (p.Leu375fs)
NM_152743.4(BRAT1):c.1177del (p.Ala393fs) rs727505365
NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer) rs773772842
NM_152743.4(BRAT1):c.1248_1249del (p.Cys416fs)
NM_152743.4(BRAT1):c.1297del (p.Leu433fs)
NM_152743.4(BRAT1):c.1371_1395+16del rs1224820591
NM_152743.4(BRAT1):c.1395G>C (p.Thr465=)
NM_152743.4(BRAT1):c.1414C>T (p.Gln472Ter)
NM_152743.4(BRAT1):c.1446del (p.Lys483fs)
NM_152743.4(BRAT1):c.1461C>A (p.Cys487Ter)
NM_152743.4(BRAT1):c.1472_1475dup (p.Leu493fs)
NM_152743.4(BRAT1):c.1477dup (p.Leu493fs)
NM_152743.4(BRAT1):c.1486C>T (p.Gln496Ter)
NM_152743.4(BRAT1):c.1492del (p.Leu498fs) rs1779001773
NM_152743.4(BRAT1):c.1498G>T (p.Glu500Ter)
NM_152743.4(BRAT1):c.1499-1G>T rs1778987915
NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) rs1554293869
NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter) rs1778980785
NM_152743.4(BRAT1):c.1711C>T (p.Gln571Ter) rs1562567814
NM_152743.4(BRAT1):c.171del (p.Glu57fs) rs1554297097
NM_152743.4(BRAT1):c.1723C>T (p.Gln575Ter)
NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter) rs746081291
NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) rs727505363
NM_152743.4(BRAT1):c.1779_1780del (p.Leu594fs)
NM_152743.4(BRAT1):c.1780del (p.Leu594fs)
NM_152743.4(BRAT1):c.1823del (p.Pro608fs) rs1778893542
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) rs794729222
NM_152743.4(BRAT1):c.1996_1997del (p.Leu666fs) rs1335347265
NM_152743.4(BRAT1):c.19C>T (p.Gln7Ter)
NM_152743.4(BRAT1):c.1A>G (p.Met1Val)
NM_152743.4(BRAT1):c.2023del (p.Tyr675fs) rs2128384059
NM_152743.4(BRAT1):c.2035_2036dup (p.Pro680fs)
NM_152743.4(BRAT1):c.2075_2091del (p.Leu692fs)
NM_152743.4(BRAT1):c.2104_2107dup (p.Phe703Ter)
NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) rs763527391
NM_152743.4(BRAT1):c.2284C>T (p.Gln762Ter) rs1778838576
NM_152743.4(BRAT1):c.2291dup (p.Gly765fs) rs1463777746
NM_152743.4(BRAT1):c.280C>T (p.Gln94Ter)
NM_152743.4(BRAT1):c.28_34del (p.Pro10fs)
NM_152743.4(BRAT1):c.313G>T (p.Glu105Ter)
NM_152743.4(BRAT1):c.333_346del (p.Ala112fs)
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup) rs1562582216
NM_152743.4(BRAT1):c.398_405del (p.His133fs) rs760389988
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) rs1085307958
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs) rs727505362
NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) rs1554296088
NM_152743.4(BRAT1):c.529C>T (p.Arg177Ter)
NM_152743.4(BRAT1):c.560_561insCG (p.Asp190fs)
NM_152743.4(BRAT1):c.566dup (p.Gly189_Asp190insTer)
NM_152743.4(BRAT1):c.586C>T (p.Gln196Ter)
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.696G>A (p.Trp232Ter)
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_152743.4(BRAT1):c.920del (p.His307fs) rs2128395588
NM_152743.4(BRAT1):c.962_963del (p.Leu321fs) rs727505364
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) rs1554295159
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter) rs2116755694
NM_153033.5(KCTD7):c.205C>G (p.Leu69Val) rs2116763829
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter) rs267607199
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met) rs387907263
NM_153033.5(KCTD7):c.331del (p.Leu111fs) rs1786631768
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs) rs2116773782
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr) rs387907262
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter) rs1207922864
NM_153033.5(KCTD7):c.514G>T (p.Glu172Ter)
NM_153033.5(KCTD7):c.594del (p.Ile199fs) rs727502785
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter) rs750811871
NM_153033.5(KCTD7):c.696del (p.Phe232fs) rs2116775509
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile) rs387907261
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_172107.2(KCNQ2):c.1119-?_*382del
NM_172107.2(KCNQ2):c.297-?_1247+?del
NM_172107.2(KCNQ2):c.388-682_1118+?del
NM_172107.2(KCNQ2):c.388-?_1301+?del
NM_172107.2:c.1-?c.993+?del
NM_172107.4(KCNQ2):c.1003C>G (p.Pro335Ala) rs1555869700
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1006_1009dup (p.Ala337fs) rs2145712063
NM_172107.4(KCNQ2):c.1021C>T (p.Gln341Ter)
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg) rs2081071796
NM_172107.4(KCNQ2):c.1023G>C (p.Gln341His) rs2081071680
NM_172107.4(KCNQ2):c.1024-1G>A
NM_172107.4(KCNQ2):c.1024-2A>C rs1057516104
NM_172107.4(KCNQ2):c.1027G>A (p.Ala343Thr)
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1030T>A (p.Trp344Arg)
NM_172107.4(KCNQ2):c.1040A>G (p.Tyr347Cys)
NM_172107.4(KCNQ2):c.1041C>G (p.Tyr347Ter) rs770904422
NM_172107.4(KCNQ2):c.1042G>A (p.Ala348Thr) rs2080906700
NM_172107.4(KCNQ2):c.1042_1043del (p.Ala348fs)
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1048_1050del (p.Asn350del)
NM_172107.4(KCNQ2):c.1049dup (p.Asn350fs)
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe) rs1057516106
NM_172107.4(KCNQ2):c.1054_1055del (p.Ser352fs)
NM_172107.4(KCNQ2):c.1056_1057delinsCG (p.Arg353Gly) rs2145680059
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly) rs118192218
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) rs796052645
NM_172107.4(KCNQ2):c.1064A>G (p.Asp355Gly) rs2080905274
NM_172107.4(KCNQ2):c.1065C>G (p.Asp355Glu) rs200395340
NM_172107.4(KCNQ2):c.1067T>A (p.Leu356Gln) rs1057518772
NM_172107.4(KCNQ2):c.106del (p.Arg36fs) rs1600886270
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys) rs118192219
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1079G>A (p.Trp360Ter) rs796052644
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter) rs1600732174
NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) rs747376305
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter) rs1185859533
NM_172107.4(KCNQ2):c.1089del (p.Tyr362_Tyr363insTer)
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1113del (p.Met371fs) rs2145679115
NM_172107.4(KCNQ2):c.1114dup (p.Tyr372fs) rs2145679099
NM_172107.4(KCNQ2):c.1117dup (p.Ser373fs) rs1600731888
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1118+2T>G rs886042605
NM_172107.4(KCNQ2):c.1136_1137delinsGA (p.Tyr379Ter)
NM_172107.4(KCNQ2):c.1140_1141del (p.Ala381fs)
NM_172107.4(KCNQ2):c.1141del (p.Ala381fs)
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1149-2A>G rs2080696874
NM_172107.4(KCNQ2):c.1154del (p.Ile385fs) rs2145637609
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.1160dup (p.Leu388fs) rs796052657
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter) rs2145637412
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs) rs118192222
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs) rs587780365
NM_172107.4(KCNQ2):c.1197dup (p.Lys400Ter)
NM_172107.4(KCNQ2):c.119_120del (p.Leu40fs) rs2145921876
NM_172107.4(KCNQ2):c.1204G>T (p.Gly402Ter) rs1064794001
NM_172107.4(KCNQ2):c.1217+1G>T rs2080693649
NM_172107.4(KCNQ2):c.1217+2_1217+3delinsAG rs2145636962
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del) rs1060499544
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1247+1G>A rs1057516115
NM_172107.4(KCNQ2):c.1273_1274del (p.Leu425fs)
NM_172107.4(KCNQ2):c.1302-1G>C rs118192225
NM_172107.4(KCNQ2):c.1302-1G>T
NM_172107.4(KCNQ2):c.1311_1312insT (p.Ser438Ter)
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1342del (p.Arg448fs) rs2145557228
NM_172107.4(KCNQ2):c.1356dup (p.Lys453fs) rs2080245264
NM_172107.4(KCNQ2):c.135del (p.Glu46fs)
NM_172107.4(KCNQ2):c.1375C>T (p.Gln459Ter) rs2145556764
NM_172107.4(KCNQ2):c.1381C>T (p.Gln461Ter) rs267606051
NM_172107.4(KCNQ2):c.1388_1389del (p.Val463fs) rs878855236
NM_172107.4(KCNQ2):c.1403dup (p.Ser468fs)
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1420G>T (p.Glu474Ter) rs368130496
NM_172107.4(KCNQ2):c.1424_1433del (p.Asp475fs) rs1601573302
NM_172107.4(KCNQ2):c.1444A>T (p.Lys482Ter) rs2080240053
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.144dup (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1452G>A (p.Trp484Ter) rs2080239750
NM_172107.4(KCNQ2):c.1452dup (p.Ser485fs) rs2080239833
NM_172107.4(KCNQ2):c.1480C>T (p.Gln494Ter) rs2145555670
NM_172107.4(KCNQ2):c.1520C>A (p.Ser507Ter)
NM_172107.4(KCNQ2):c.1525+1G>A rs118192228
NM_172107.4(KCNQ2):c.1525+2T>C
NM_172107.4(KCNQ2):c.1528del (p.Ala510fs) rs2080213813
NM_172107.4(KCNQ2):c.1531del (p.Ser511fs)
NM_172107.4(KCNQ2):c.1532dup (p.Ser511fs)
NM_172107.4(KCNQ2):c.1534del (p.Leu512fs)
NM_172107.4(KCNQ2):c.1540G>T (p.Gly514Ter) rs772669887
NM_172107.4(KCNQ2):c.1547del (p.Asp516fs)
NM_172107.4(KCNQ2):c.1558_1561dup (p.Lys521fs) rs2145548219
NM_172107.4(KCNQ2):c.1601del (p.Pro534fs)
NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del) rs1555853977
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly) rs1555853971
NM_172107.4(KCNQ2):c.1631+1G>A rs1057516121
NM_172107.4(KCNQ2):c.1631+2T>C rs2145547234
NM_172107.4(KCNQ2):c.1632-1G>A rs118192233
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) rs397515420
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln) rs118192234
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn) rs267607198
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1665C>G (p.Phe555Leu)
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu) rs1555853593
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs) rs118192231
NM_172107.4(KCNQ2):c.1680dup (p.Pro561fs) rs1601566621
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu) rs796052652
NM_172107.4(KCNQ2):c.1684T>A (p.Tyr562Asn)
NM_172107.4(KCNQ2):c.1686C>G (p.Tyr562Ter) rs1057520773
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn) rs796052653
NM_172107.4(KCNQ2):c.1688A>G (p.Asp563Gly) rs2080189052
NM_172107.4(KCNQ2):c.1689C>A (p.Asp563Glu)
NM_172107.4(KCNQ2):c.1692_1700del (p.Met565_Val567del)
NM_172107.4(KCNQ2):c.1708C>T (p.Gln570Ter) rs2080188103
NM_172107.4(KCNQ2):c.171_172delinsAA (p.Arg58Ser) rs2145921606
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser) rs2080187424
NM_172107.4(KCNQ2):c.1720_1726dup (p.Leu576fs)
NM_172107.4(KCNQ2):c.1727_1731dup (p.Met578fs)
NM_172107.4(KCNQ2):c.1734G>A (p.Met578Ile) rs796052655
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) rs796052665
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly) rs118192236
NM_172107.4(KCNQ2):c.1741_1747delinsAGGCAAGAGCCCCGCCTGCCTGTCCAGCAGGGGACAAGAACGGGGTGGGCTTCTGGGAC (p.Ile582fs)
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1756C>T (p.Gln586Ter)
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1763+5G>C
NM_172107.4(KCNQ2):c.1764-6C>A rs118192239
NM_172107.4(KCNQ2):c.1771C>T (p.Gln591Ter)
NM_172107.4(KCNQ2):c.1865G>C (p.Arg622Pro)
NM_172107.4(KCNQ2):c.1872del (p.Lys625fs) rs1568864658
NM_172107.4(KCNQ2):c.1873A>T (p.Lys625Ter)
NM_172107.4(KCNQ2):c.1887+1G>T rs796052670
NM_172107.4(KCNQ2):c.1903AAG[1] (p.Lys636del) rs2079980257
NM_172107.4(KCNQ2):c.1918del (p.Leu640fs)
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs) rs118192241
NM_172107.4(KCNQ2):c.1935dup (p.Gln646fs)
NM_172107.4(KCNQ2):c.1955del (p.Pro652fs)
NM_172107.4(KCNQ2):c.1955dup (p.Thr653fs)
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs) rs118192242
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs) rs1601545088
NM_172107.4(KCNQ2):c.195_196del (p.Lys66fs) rs2145921462
NM_172107.4(KCNQ2):c.195_198del (p.Lys66fs)
NM_172107.4(KCNQ2):c.1966del (p.Glu656fs) rs2145488506
NM_172107.4(KCNQ2):c.196A>T (p.Lys66Ter)
NM_172107.4(KCNQ2):c.197del (p.Lys66fs) rs2082235501
NM_172107.4(KCNQ2):c.1999_2377del (p.Ala667fs)
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.4(KCNQ2):c.1A>T (p.Met1Leu)
NM_172107.4(KCNQ2):c.2007dup (p.Tyr670fs)
NM_172107.4(KCNQ2):c.2032del (p.Glu678fs) rs2145487908
NM_172107.4(KCNQ2):c.2036_2052del (p.His679fs)
NM_172107.4(KCNQ2):c.2045_2046insT (p.Arg682fs)
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.204del (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs) rs118192188
NM_172107.4(KCNQ2):c.2068del (p.Val690fs) rs2079972258
NM_172107.4(KCNQ2):c.2077del (p.Ser693fs)
NM_172107.4(KCNQ2):c.2118del (p.Ala707fs)
NM_172107.4(KCNQ2):c.2126dup (p.Val710fs) rs1555850842
NM_172107.4(KCNQ2):c.2127del (p.Val710fs) rs118192244
NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile) rs864321711
NM_172107.4(KCNQ2):c.2154G>A (p.Trp718Ter)
NM_172107.4(KCNQ2):c.216dup (p.Phe73fs) rs2145921332
NM_172107.4(KCNQ2):c.2196del (p.Val733fs)
NM_172107.4(KCNQ2):c.2204del (p.Asp735fs) rs2145486022
NM_172107.4(KCNQ2):c.223del (p.Arg75fs) rs2145921283
NM_172107.4(KCNQ2):c.2242del (p.His748fs)
NM_172107.4(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.4(KCNQ2):c.2276dup (p.Asn759fs) rs2079962041
NM_172107.4(KCNQ2):c.2278del (p.Arg760fs) rs1555850590
NM_172107.4(KCNQ2):c.227dup (p.Leu77fs)
NM_172107.4(KCNQ2):c.2296del (p.Leu766fs) rs1057518668
NM_172107.4(KCNQ2):c.2305G>T (p.Glu769Ter) rs2145484794
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs) rs1555850512
NM_172107.4(KCNQ2):c.2326_2327delinsA (p.Pro776fs) rs1601542702
NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter) rs867848081
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.2333del (p.Glu778fs)
NM_172107.4(KCNQ2):c.2339del (p.Asn780fs) rs2145484269
NM_172107.4(KCNQ2):c.2341dup (p.Leu781fs) rs529943494
NM_172107.4(KCNQ2):c.2361_2364del (p.Ile788fs)
NM_172107.4(KCNQ2):c.2361dup (p.Ile788fs) rs1601542417
NM_172107.4(KCNQ2):c.2378_2391del (p.Val793fs) rs1555850403
NM_172107.4(KCNQ2):c.2399del (p.Arg800fs)
NM_172107.4(KCNQ2):c.2418del (p.Ser806fs) rs2145483403
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.2425del (p.Gln809fs) rs1057518662
NM_172107.4(KCNQ2):c.2486_2487del (p.Lys829fs) rs2079949302
NM_172107.4(KCNQ2):c.2533del (p.Leu845fs) rs2145482327
NM_172107.4(KCNQ2):c.2568_2574del (p.Thr857fs) rs2145481803
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs) rs1555850151
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs) rs118192246
NM_172107.4(KCNQ2):c.2607del (p.Arg871fs)
NM_172107.4(KCNQ2):c.272G>A (p.Trp91Ter)
NM_172107.4(KCNQ2):c.273G>A (p.Trp91Ter) rs2082233410
NM_172107.4(KCNQ2):c.285C>A (p.Tyr95Ter) rs1555881741
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.297-1G>C rs2081442293
NM_172107.4(KCNQ2):c.297-3C>G
NM_172107.4(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr) rs118192186
NM_172107.4(KCNQ2):c.308T>A (p.Val103Asp) rs2145789820
NM_172107.4(KCNQ2):c.315del (p.Cys106fs)
NM_172107.4(KCNQ2):c.319C>T (p.Leu107Phe) rs864321712
NM_172107.4(KCNQ2):c.329_332del (p.Ser110fs) rs1064796151
NM_172107.4(KCNQ2):c.330del (p.Val111fs)
NM_172107.4(KCNQ2):c.330dup (p.Val111fs)
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs) rs796052663
NM_172107.4(KCNQ2):c.33C>A (p.Tyr11Ter) rs2082240394
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala) rs1057516076
NM_172107.4(KCNQ2):c.354T>G (p.Tyr118Ter) rs2145789339
NM_172107.4(KCNQ2):c.363_372del (p.Ser121fs) rs2145789182
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.387+1G>A
NM_172107.4(KCNQ2):c.387+5G>A rs2081437856
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile) rs866273848
NM_172107.4(KCNQ2):c.418_421del (p.Glu140fs)
NM_172107.4(KCNQ2):c.423C>G (p.Tyr141Ter)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.432del (p.Ile145fs) rs2145779418
NM_172107.4(KCNQ2):c.437G>A (p.Trp146Ter) rs2145779397
NM_172107.4(KCNQ2):c.438G>A (p.Trp146Ter)
NM_172107.4(KCNQ2):c.439del (p.Ala147fs) rs1555873981
NM_172107.4(KCNQ2):c.446_459del (p.Gly149fs)
NM_172107.4(KCNQ2):c.457C>A (p.Arg153=)
NM_172107.4(KCNQ2):c.459del (p.Tyr154fs) rs2145779218
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) rs1057516079
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg) rs1057516080
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val) rs1057516081
NM_172107.4(KCNQ2):c.477del (p.Arg160fs) rs2081378550
NM_172107.4(KCNQ2):c.493dup (p.Arg165fs) rs2145778884
NM_172107.4(KCNQ2):c.498dup (p.Pro167fs)
NM_172107.4(KCNQ2):c.507_514+10del rs2081377258
NM_172107.4(KCNQ2):c.523G>T (p.Val175Leu)
NM_172107.4(KCNQ2):c.545T>C (p.Val182Ala)
NM_172107.4(KCNQ2):c.550del (p.Ala184fs)
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser) rs1600786349
NM_172107.4(KCNQ2):c.560C>T (p.Ser187Phe) rs2081363375
NM_172107.4(KCNQ2):c.562del (p.Gln188fs)
NM_172107.4(KCNQ2):c.569A>G (p.Asn190Ser)
NM_172107.4(KCNQ2):c.572T>C (p.Val191Ala)
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val) rs796052619
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) rs796052620
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer) rs118192197
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>G (p.Arg201Gly)
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.605dup (p.Leu203fs)
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.610del (p.Gln204fs) rs2145775420
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg) rs1339542565
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val) rs118192201
NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr) rs1600785769
NM_172107.4(KCNQ2):c.626T>G (p.Ile209Ser) rs1600785769
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys) rs796052626
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.635A>C (p.Asp212Ala) rs118192202
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln) rs1057518555
NM_172107.4(KCNQ2):c.644del (p.Gly215fs) rs2145774901
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala) rs1057516089
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.652T>A (p.Trp218Arg) rs892572733
NM_172107.4(KCNQ2):c.652T>C (p.Trp218Arg)
NM_172107.4(KCNQ2):c.653G>A (p.Trp218Ter) rs2145774742
NM_172107.4(KCNQ2):c.654dup (p.Lys219fs)
NM_172107.4(KCNQ2):c.658C>A (p.Leu220Met)
NM_172107.4(KCNQ2):c.667T>C (p.Ser223Pro) rs2081358991
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe) rs2145774638
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.673G>T (p.Val225Phe)
NM_172107.4(KCNQ2):c.682del (p.His228fs)
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.686G>T (p.Ser229Ile) rs2145774465
NM_172107.4(KCNQ2):c.687del (p.Ser229fs) rs1555873656
NM_172107.4(KCNQ2):c.689A>G (p.Lys230Arg)
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) rs794729197
NM_172107.4(KCNQ2):c.699_709del (p.Thr234fs) rs2145736578
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala) rs1057516091
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.718T>G (p.Phe240Val)
NM_172107.4(KCNQ2):c.721_724del (p.Leu241fs) rs2081191595
NM_172107.4(KCNQ2):c.722T>C (p.Leu241Pro) rs2145736444
NM_172107.4(KCNQ2):c.725G>T (p.Cys242Phe)
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val) rs118192205
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.734T>C (p.Leu245Pro) rs2145736248
NM_172107.4(KCNQ2):c.737_748del (p.Ala246_Leu249del)
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.743_751del (p.Phe248_Val250del)
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro) rs2081190512
NM_172107.4(KCNQ2):c.748G>T (p.Val250Leu) rs2081190344
NM_172107.4(KCNQ2):c.749T>C (p.Val250Ala) rs118192206
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.753C>G (p.Tyr251Ter) rs2145735982
NM_172107.4(KCNQ2):c.757G>T (p.Ala253Ser) rs1057516093
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala) rs794727739
NM_172107.4(KCNQ2):c.766G>T (p.Gly256Trp)
NM_172107.4(KCNQ2):c.767G>T (p.Gly256Val) rs1371722284
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys) rs770187706
NM_172107.4(KCNQ2):c.775G>T (p.Asp259Tyr) rs777257591
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.780_781dup (p.Phe261fs) rs1568932480
NM_172107.4(KCNQ2):c.783_787dup (p.Thr263fs) rs1600766500
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile) rs1568932462
NM_172107.4(KCNQ2):c.792C>A (p.Tyr264Ter) rs143399744
NM_172107.4(KCNQ2):c.792C>G (p.Tyr264Ter) rs143399744
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.794_795insATCC (p.Asp266fs) rs2081187965
NM_172107.4(KCNQ2):c.796G>C (p.Asp266His)
NM_172107.4(KCNQ2):c.797A>G (p.Asp266Gly) rs2081187692
NM_172107.4(KCNQ2):c.7del (p.Gln3fs)
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) rs1057516094
NM_172107.4(KCNQ2):c.803T>C (p.Leu268Pro) rs864321708
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter) rs118192208
NM_172107.4(KCNQ2):c.807G>T (p.Trp269Cys) rs118192208
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.817-10G>A rs375363057
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.827C>A (p.Thr276Asn) rs1057516095
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro) rs1555870554
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.830C>G (p.Thr277Ser)
NM_172107.4(KCNQ2):c.832_845dup (p.Asp282fs)
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.842G>A (p.Gly281Glu) rs1064795489
NM_172107.4(KCNQ2):c.845del (p.Asp282fs) rs1568927747
NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu)
NM_172107.4(KCNQ2):c.848del (p.Lys283fs) rs1555870506
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His)
NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp) rs864321706
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.853C>A (p.Pro285Thr)
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser) rs2081101244
NM_172107.4(KCNQ2):c.856del (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.856dup (p.Gln286fs) rs1555870470
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) rs1057516098
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) rs397514582
NM_172107.4(KCNQ2):c.878T>C (p.Leu293Pro) rs2145718961
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
NM_172107.4(KCNQ2):c.881C>A (p.Ala294Glu)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.883del (p.Ala295fs) rs2145718887
NM_172107.4(KCNQ2):c.89_99del (p.Gly30fs)
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.908C>G (p.Ser303Cys) rs2081098548
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) rs775918190
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro) rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.920T>C (p.Leu307Pro)
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.927+1G>A rs1555870346
NM_172107.4(KCNQ2):c.927+1G>C rs1555870346
NM_172107.4(KCNQ2):c.927+1G>T rs1555870346
NM_172107.4(KCNQ2):c.927+2T>C rs2081097112
NM_172107.4(KCNQ2):c.928-7_933del
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
NM_172107.4(KCNQ2):c.943G>A (p.Gly315Arg)
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) rs864321709
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_172107.4(KCNQ2):c.958_993dup (p.Val320_Lys331dup) rs1568925507
NM_172107.4(KCNQ2):c.967del (p.Gln323fs) rs2145712498
NM_172107.4(KCNQ2):c.987del (p.Phe329fs)
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216
NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) rs786205160
NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) rs786205161
NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) rs786205163
NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) rs786205159
NM_177550.5(SLC13A5):c.1056-1G>C rs113208940
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs)
NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter) rs2151485506
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) rs863225447
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1354_1358dup (p.Leu454fs)
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs)
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) rs766330201
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His) rs863225448
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) rs1597676674
NM_177550.5(SLC13A5):c.395_396del (p.Thr132fs)
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter)
NM_177550.5(SLC13A5):c.646del (p.Ala216fs)
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter)
NM_177550.5(SLC13A5):c.806G>A (p.Trp269Ter)
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs)
NM_177550.5(SLC13A5):c.930del (p.Leu312fs) rs1973546077
NM_178013.4(PRIMA1):c.270G>A (p.Trp90Ter) rs2141161066
NM_178013.4(PRIMA1):c.80G>A (p.Trp27Ter)
NM_183381.3(RNF13):c.901G>T (p.Glu301Ter)
NM_183381.3(RNF13):c.932T>C (p.Leu311Ser) rs1559980771
NM_183381.3(RNF13):c.935T>C (p.Leu312Pro) rs1559980785
NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) rs1572630269
NM_198503.5(KCNT2):c.1621C>T (p.Arg541Ter)
NM_198503.5(KCNT2):c.1690A>T (p.Lys564Ter) rs1572096837
NM_198503.5(KCNT2):c.569G>A (p.Arg190His) rs1572547466
NM_198503.5(KCNT2):c.569G>C (p.Arg190Pro) rs1572547466
NM_198503.5(KCNT2):c.720T>A (p.Phe240Leu) rs1060499537
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn) rs1572418357
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.940_943dup (p.Tyr315fs)
NM_198586.3(NHLRC1):c.98T>C (p.Phe33Ser)
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543
NM_198904.4(GABRG2):c.1025del (p.Cys342fs) rs1060501889
NM_198904.4(GABRG2):c.1035del (p.Phe345fs) rs1581453822
NM_198904.4(GABRG2):c.1087del (p.Arg363fs) rs1765186475
NM_198904.4(GABRG2):c.1128+6T>C
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
NM_198904.4(GABRG2):c.1192C>T (p.Gln398Ter) rs121909674
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
NM_198904.4(GABRG2):c.1207_1214del (p.Thr403fs)
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs) rs1554101202
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs) rs2113650735
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
NM_198904.4(GABRG2):c.1277del (p.Phe426fs) rs1285618109
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter) rs1554101224
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu) rs587780341
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
NM_198904.4(GABRG2):c.1403A>G (p.Tyr468Cys) rs749946230
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.259+1G>A
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.272T>G (p.Leu91Ter) rs796052518
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.327+1del
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
NM_198904.4(GABRG2):c.351dup (p.Ala118fs) rs1554097873
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
NM_198904.4(GABRG2):c.429del (p.Ile145fs)
NM_198904.4(GABRG2):c.429dup (p.Lys144fs) rs2113326012
NM_198904.4(GABRG2):c.433del (p.Ile145fs)
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
NM_198904.4(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198904.4(GABRG2):c.498del (p.Asn167fs) rs2113326854
NM_198904.4(GABRG2):c.529C>G (p.Arg177Gly) rs267606837
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter) rs267606837
NM_198904.4(GABRG2):c.530del (p.Arg177fs) rs878854144
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer) rs1554098222
NM_198904.4(GABRG2):c.697del (p.Arg233fs) rs1761620237
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter) rs549251133
NM_198904.4(GABRG2):c.769+1G>A rs2113371247
NM_198904.4(GABRG2):c.769+2T>C
NM_198904.4(GABRG2):c.769+2T>G rs1561645243
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg) rs1554098235
NM_198904.4(GABRG2):c.782del (p.Val261fs)
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter) rs1469287853
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser) rs796052508
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr) rs2113598950
NM_198904.4(GABRG2):c.892A>T (p.Lys298Ter)
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe) rs2113599212
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) rs2113632484
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile) rs2113632484
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser) rs2113632555
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter) rs1758361435
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp) rs796052510
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu) rs1581453572
NM_198904.4(GABRG2):c.983A>T (p.Lys328Met) rs121909672
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys) rs1390117240
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs) rs1419316294
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs) rs2146047336
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs) rs2145981153
NM_203446.3(SYNJ1):c.1821del (p.Gln608fs) rs1057524879
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2242_2243del (p.Gln748fs)
NM_203446.3(SYNJ1):c.2411G>A (p.Trp804Ter) rs1057524878
NM_203446.3(SYNJ1):c.2546A>G (p.Tyr849Cys) rs1057524877
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
NM_203446.3(SYNJ1):c.2665_2666del (p.Gln889fs)
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
NM_203446.3(SYNJ1):c.295del (p.Thr99fs) rs2146213651
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) rs1230133310
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter) rs1373545506
NM_203446.3(SYNJ1):c.3248-2A>G rs1057524880
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs) rs2145756643
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) rs2039933328
NM_203446.3(SYNJ1):c.345del (p.Ile116fs) rs2146213143
NM_203446.3(SYNJ1):c.3526C>T (p.Gln1176Ter)
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter) rs1160469053
NP_055006.1(SCN8A):p.Pro1428_Lys1473del
RAPGEF2, 5-BP INS, TTTCA(n) REPEAT EXPANSION
SAMD12, 5-BP INS, TTTCA(n) REPEAT EXPANSION, IVS4
SYNGAP1, TRP267TER
Single allele
TNRC6A, 5-BP INS, TTTCA(n) REPEAT EXPANSION
nsv1197577
t(2;14)(q36.1;q12)
t(4;14)(q26;q12)
t(9;14)(q22.31;q12)

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