ClinVar Miner

List of variants reported as pathogenic for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4234
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) rs140291094 0.00039
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) rs371720347 0.00022
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_017534.6(MYH2):c.2405T>A (p.Leu802Ter) rs758395765 0.00018
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp) rs199583516 0.00016
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter) rs80358249 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_018116.4(MSTO1):c.706G>C (p.Asp236His) rs753488873 0.00013
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) rs139715157 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_000183.3(HADHB):c.1A>G (p.Met1Val) rs763333945 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_024854.5(PYROXD1):c.285+1G>A rs369083786 0.00009
NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys) rs3741040 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_005262.3(GFER):c.373C>T (p.Gln125Ter) rs771809901 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His) rs368435864 0.00006
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) rs121908185 0.00006
NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter) rs777172978 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001100.4(ACTA1):c.436del (p.Ala146fs) rs1395648272 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) rs267606749 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_007103.4(NDUFV1):c.1162+4A>C rs199683937 0.00005
NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys) rs749922789 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly) rs1314283337 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_004168.4(SDHA):c.1663+3G>C rs751904543 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter) rs377632042 0.00004
NM_004369.4(COL6A3):c.8966-1G>C rs767517186 0.00004
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) rs74315510 0.00004
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_018116.4(MSTO1):c.887_888del (p.Leu296fs) rs752022363 0.00004
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter) rs940941896 0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val) rs769938343 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.21504del (p.Asn7169fs) rs934955715 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) rs398123645 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) rs866001342 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp) rs104894371 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_152393.4(KLHL40):c.602G>A (p.Trp201Ter) rs397509420 0.00003
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807 0.00003
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.676+2T>C rs772683361 0.00002
NM_000183.3(HADHB):c.210-1G>T rs200777054 0.00002
NM_000183.3(HADHB):c.97C>T (p.Arg33Ter) rs752264795 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr) rs377176361 0.00002
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys) rs933258893 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) rs587777214 0.00002
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) rs753923758 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter) rs758277406 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) rs866050664 0.00002
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter) rs146440690 0.00002
NM_001256545.2(MEGF10):c.2320T>C (p.Cys774Arg) rs387907072 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_001849.4(COL6A2):c.115+2T>C rs770842374 0.00002
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu) rs886042332 0.00002
NM_001849.4(COL6A2):c.954+5G>C rs750755566 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001953.5(TYMP):c.646+1G>A rs760629248 0.00002
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs) rs1471550984 0.00002
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005262.3(GFER):c.566C>G (p.Ser189Ter) rs373135339 0.00002
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys) rs149753643 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_017534.6(MYH2):c.2347C>T (p.Arg783Ter) rs762121316 0.00002
NM_017534.6(MYH2):c.2377C>T (p.Arg793Ter) rs545623839 0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter) rs780124402 0.00002
NM_017534.6(MYH2):c.3331C>T (p.Gln1111Ter) rs758264018 0.00002
NM_017534.6(MYH2):c.4537C>T (p.Gln1513Ter) rs929311433 0.00002
NM_017534.6(MYH2):c.625G>T (p.Glu209Ter) rs1250462450 0.00002
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter) rs377215510 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_032578.4(MYPN):c.1129C>T (p.Arg377Ter) rs781261060 0.00002
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter) rs753585568 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs) rs1300427865 0.00002
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461 0.00001
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) rs796051971 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter) rs1322871046 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp) rs1023807527 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.254+1G>A rs776172237 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000183.3(HADHB):c.255-2A>G rs1220650950 0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter) rs552292698 0.00001
NM_000183.3(HADHB):c.693_696dup (p.Ala233fs) rs745646607 0.00001
NM_000183.3(HADHB):c.740G>A (p.Arg247His) rs121913133 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys) rs1188070167 0.00001
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His) rs80338784 0.00001
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) rs121908557 0.00001
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_000334.4(SCN4A):c.4370G>A (p.Arg1457His) rs863225046 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000540.2(RYR1):c.14647-1449A>G rs193922886 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 0.00001
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln) rs118192141 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) rs1278804520 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter) rs1397859218 0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) rs760412883 0.00001
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) rs121909519 0.00001
NM_001100.4(ACTA1):c.616+1G>A rs111812550 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys) rs1392068839 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001164508.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter) rs377182240 0.00001
NM_001164508.2(NEB):c.13130_13131del (p.Met4377fs) rs1490309743 0.00001
NM_001164508.2(NEB):c.1470+1G>A rs1220787593 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1674+1G>T rs750585238 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900 0.00001
NM_001164508.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22144A>C (p.Thr7382Pro) rs761232641 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.580C>T (p.Gln194Ter) rs1032240985 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.928-1G>A rs1162553327 0.00001
NM_001164508.2(NEB):c.9414+1G>T rs1255445731 0.00001
NM_001256545.2(MEGF10):c.1559G>A (p.Trp520Ter) rs794726677 0.00001
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp) rs387907074 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg) rs775340790 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.38876-2A>C rs1185989004 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.49870C>T (p.Arg16624Ter) rs1471414348 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs) rs757603460 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) rs1205409465 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.78979C>T (p.Arg26327Ter) rs1419374180 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.86335C>T (p.Arg28779Ter) rs1060500525 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter) rs1422385556 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter) rs749593004 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) rs387906610 0.00001
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp) rs755352246 0.00001
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs) rs762385362 0.00001
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.254_255insT (p.Gly86fs) rs1273708097 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.46C>T (p.Arg16Cys) rs60798368 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter) rs1187516594 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) rs761665644 0.00001
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) rs1064792870 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) rs946234163 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter) rs147517396 0.00001
NM_002495.4(NDUFS4):c.99-1G>A rs376281345 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) rs121918051 0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg) rs142347031 0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) rs373442996 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1340A>G (p.His447Arg) rs779151375 0.00001
NM_004168.4(SDHA):c.1352G>A (p.Arg451His) rs370690436 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) rs771328239 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter) rs755382829 0.00001
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter) rs948586287 0.00001
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter) rs781043870 0.00001
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter) rs774115247 0.00001
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) rs541928674 0.00001
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter) rs763187844 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_004370.6(COL12A1):c.5794+2T>A rs1266090046 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) rs281865495 0.00001
NM_004614.5(TK2):c.588A>T (p.Arg196Ser) rs752949191 0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp) rs28937598 0.00001
NM_005262.3(GFER):c.575A>G (p.Asp192Gly) rs1363034255 0.00001
NM_006063.3(KLHL41):c.1027C>T (p.Gln343Ter) rs779140230 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu) rs775180716 0.00001
NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp) rs377022708 0.00001
NM_015602.4(TOR1AIP1):c.149C>A (p.Ser50Ter) rs374232191 0.00001
NM_015602.4(TOR1AIP1):c.646G>T (p.Glu216Ter) rs778326858 0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His) rs752513525 0.00001
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs) rs1293675104 0.00001
NM_017534.6(MYH2):c.1975-2A>G rs746770617 0.00001
NM_017534.6(MYH2):c.2173A>T (p.Lys725Ter) rs1027921042 0.00001
NM_017534.6(MYH2):c.4537+1G>A rs567336764 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574 0.00001
NM_018116.4(MSTO1):c.966+1G>A rs771965165 0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.300del (p.Ser102fs) rs1269951927 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.446_447del (p.Pro149fs) rs1192828749 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_022336.4(EDAR):c.266G>A (p.Arg89His) rs121908450 0.00001
NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His) rs755208949 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter) rs140307681 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_145064.3(STAC3):c.739C>T (p.Gln247Ter) rs1202215410 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152393.4(KLHL40):c.1498C>T (p.Arg500Cys) rs758188096 0.00001
NM_152393.4(KLHL40):c.1582G>A (p.Glu528Lys) rs397509419 0.00001
NM_178554.6(KY):c.415C>T (p.Arg139Ter) rs373240849 0.00001
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) rs724159964 0.00001
CNTN1, EX2-15DEL and EX18-19DEL
GRCh37/hg19 19q13.42(chr19:55652193-55665240)
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
GRCh37/hg19 Xq28(chrX:149761077-149818374)
GRCh38/hg38 1q22(chr1:155610587-155746587)x1
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
NC_000001.10:g.(?_115231162)_(115238191_?)del
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.10:g.(?_25870190)_(26142209_?)del
NC_000001.10:g.(?_26126650)_(26126749_?)del
NC_000001.11:g.(?_179882503)_(179904022_?)del
NC_000001.11:g.229432790C>G rs727503798
NC_000001.11:g.25800167_25800266del rs1572226578
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
NC_000002.11:g.(26477343_26486247)_(26486348_26492820)del
NC_000002.11:g.(?_152380815)_(152384109_?)del
NC_000002.11:g.(?_152382464)_(152385410_?)del
NC_000002.11:g.(?_152408232)_(152432888_?)del
NC_000002.11:g.(?_152417187)_(152418727_?)del
NC_000002.11:g.(?_152417188)_(152418728_?)del
NC_000002.11:g.(?_152466303)_(152554182_?)del
NC_000002.11:g.(?_152466303)_(152563531_?)del
NC_000002.11:g.(?_152466303)_(152955525_?)del
NC_000002.11:g.(?_152470770)_(152471121_?)del
NC_000002.11:g.(?_152470770)_(152554182_?)del
NC_000002.11:g.(?_152475955)_(152476286_?)del
NC_000002.11:g.(?_152482028)_(152566297_?)del
NC_000002.11:g.(?_152482028)_(152567072_?)del
NC_000002.11:g.(?_152484031)_(152500325_?)del
NC_000002.11:g.(?_152490172)_(152500335_?)del
NC_000002.11:g.(?_152496849)_(152500663_?)del
NC_000002.11:g.(?_152496863)_(152500325_?)del
NC_000002.11:g.(?_152499068)_(152499887_?)del
NC_000002.11:g.(?_152499068)_(152500663_?)del
NC_000002.11:g.(?_152499078)_(152500653_?)del
NC_000002.11:g.(?_152506680)_(152510623_?)del
NC_000002.11:g.(?_152520042)_(152521397_?)del
NC_000002.11:g.(?_152524298)_(152525665_?)del
NC_000002.11:g.(?_152539156)_(152539303_?)del
NC_000002.11:g.(?_152550817)_(152554182_?)del
NC_000002.11:g.(?_152579876)_(152589670_?)del
NC_000002.11:g.(?_179392363)_(179408795_?)del
NC_000002.11:g.(?_219135239)_(220290732_?)del
NC_000002.11:g.(?_220283185)_(220290712_?)del
NC_000002.11:g.(?_236403331)_(242801596_?)del
NC_000002.11:g.(?_237481970)_(238305470_?)del
NC_000002.11:g.(?_237481970)_(242801596_?)del
NC_000002.11:g.(?_238267977)_(238268801_?)del
NC_000002.11:g.(?_26414109)_(26415303_?)del
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.11:g.(?_26414119)_(26414517_?)del
NC_000002.11:g.(?_26414119)_(26462031_?)del
NC_000002.11:g.(?_26414119)_(26502265_?)del
NC_000002.11:g.(?_26416426)_(26418121_?)del
NC_000002.11:g.(?_26416436)_(26418111_?)del
NC_000002.11:g.(?_26423998)_(26424209_?)del
NC_000002.11:g.(?_26426911)_(26512821_?)del
NC_000002.11:g.(?_26467378)_(26467464_?)del
NC_000002.11:g.(?_26477123)_(26486367_?)del
NC_000002.11:g.(?_26486228)_(26486367_?)del
NC_000002.11:g.(?_26486228)_(26781439_?)del
NC_000002.11:g.(?_26492801)_(26496638_?)del
NC_000002.11:g.(?_26505693)_(26508459_?)del
NC_000002.11:g.(?_26506965)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26508459_?)del
NC_000002.11:g.(?_26507731)_(26512821_?)del
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000002.12:g.(?_237358501)_(237361194_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NC_000002.12:g.178552644_178552645del rs773840992
NC_000002.12:g.26201318_26201321del
NC_000003.11:g.(?_69158226)_(69171557_?)del
NC_000006.11:g.(?_75796253)_(75912518_?)del
NC_000006.11:g.(?_75833026)_(75912508_?)del
NC_000006.11:g.(?_75855798)_(75861023_?)del
NC_000007.13:g.(?_128469483)_(128500328_?)del
NC_000007.13:g.(?_128470682)_(128498587_?)del
NC_000007.13:g.(?_128470692)_(128498577_?)del
NC_000007.13:g.(?_128470692)_(128694824_?)del
NC_000007.13:g.(?_128475360)_(128478877_?)del
NC_000007.13:g.(?_128480619)_(128486474_?)del
NC_000007.13:g.(?_128487731)_(128488142_?)del
NC_000007.13:g.(?_128494167)_(128545556_?)del
NC_000007.14:g.(?_128830618)_(128858543_?)del
NC_000007.14:g.(?_128848551)_(128848992_?)del
NC_000007.14:g.128837160del
NC_000007.14:g.128852828_128852829del
NC_000007.14:g.128854417_128854448del
NC_000010.10:g.(?_121411178)_(121437012_?)del
NC_000010.10:g.(?_121411188)_(121411387_?)del
NC_000010.10:g.(?_121429343)_(121436794_?)del
NC_000010.10:g.(?_121435956)_(121436794_?)del
NC_000010.11:g.(?_119676454)_(119677500_?)del
NC_000011.10:g.(?_3856251)_(4091818_?)del
NC_000011.10:g.(?_4059271)_(4059406_?)del
NC_000011.9:g.(?_3988762)_(4113028_?)del
NC_000011.9:g.(?_4076736)_(4076887_?)del
NC_000012.11:g.(?_122064648)_(122064976_?)del
NC_000012.11:g.(?_122064648)_(122287716_?)del
NC_000012.11:g.(?_57641889)_(57642001_?)del
NC_000012.12:g.121641056G>A rs2136852410
NC_000012.12:g.121641149C>T rs786204797
NC_000012.12:g.121641254G>T
NC_000014.9:g.(?_34710372)_(34713686_?)del
NC_000014.9:g.(?_34712845)_(34714560_?)del
NC_000017.10:g.(?_10424597)_(10451237_?)del
NC_000017.11:g.(?_9794928)_(10547930_?)del
NC_000017.11:g.10535371_10535372insGGAGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATTCTCCTGTAA
NC_000019.10:g.(?_55132793)_(55132961_55133886)del
NC_000019.10:g.(?_55140863)_(55141322_?)del
NC_000019.10:g.(?_55140863)_(55147177_?)del
NC_000019.10:g.(?_55140863)_(55151937_?)del
NC_000019.10:g.(?_55140873)_(55147167_?)del
NC_000019.9:g.(?_55644283)_(55653308_?)del
NC_000019.9:g.(?_55652231)_(55658525_?)del
NC_000019.9:g.(?_55652544)_(55656943_?)del
NC_000021.8:g.(?_47407403)_(47407578_?)del
NC_000021.8:g.(?_47408988)_(47410346_?)del
NC_000021.8:g.(?_47422287)_(47423978_?)del
NC_000021.8:g.(?_47529674)_(47540994_?)del
NC_000021.8:g.(?_47529674)_47540994del
NC_000021.8:g.(?_47531391)_(47541057_?)del
NC_000021.8:g.(?_47533070)_47584395del
NC_000021.8:g.(?_47536737)_(47537399_?)del
NC_000021.8:g.(?_47543718)_(47545225_?)del
NC_000021.8:g.(?_47545204)_(47546372_?)del
NC_000021.8:g.(?_47552285)_(47554633_?)del
NC_000021.8:g.(?_47552332)_(47557196_?)del
NC_000021.9:g.(?_45981831)_(46132572_?)del
NC_000021.9:g.(?_45986526)_(45987654_?)del
NC_000021.9:g.(?_45989064)_(45989157_?)del
NC_000021.9:g.(?_46111467)_(46121133_?)del
NC_000021.9:g.(?_46111477)_(46121123_?)del
NC_000021.9:g.46116773dup
NC_000021.9:g.46119791_46119798dup
NC_000023.10:g.(?_149613783)_(149767170_?)del
NC_000023.10:g.(?_149613783)_(149840068_?)del
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149761067)_(149761149_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149767036)_(149787632_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152954030)_(154005142_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_000023.11:g.150657994_150657995delinsT rs797045711
NC_012920.1(MT-ATP6):m.8969G>A rs794726857
NC_012920.1(MT-CO3):m.9379G>A rs267606615
NC_012920.1(MT-CYB):m.14846G>A rs207459998
NC_012920.1(MT-CYB):m.15150G>A rs207460000
NC_012920.1(MT-CYB):m.15242G>A rs207459999
NC_012920.1(MT-CYB):m.583G>A rs118203885
NC_012920.1(MT-CYB):m.586G>A rs387906734
NC_012920.1(MT-CYB):m.611G>A rs118203886
NC_012920.1(MT-CYB):m.616T>C rs387906420
NC_012920.1(MT-ND1):m.1606G>A rs199476143
NC_012920.1(MT-ND1):m.1624C>T rs199476144
NC_012920.1(MT-ND1):m.1644G>A rs587776441
NC_012920.1(MT-ND1):m.1659T>C rs1603218609
NC_012920.1(MT-ND1):m.3380G>A rs1603218926
NC_012920.1(MT-ND1):m.3481G>A rs587776433
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND1):m.3949T>C rs199476124
NC_012920.1(MT-ND2):m.4810G>A rs267606888
NC_012920.1(MT-ND2):m.5133_5134del rs199476116
NC_012920.1(MT-ND4):m.11084A>G rs199476113
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12770A>G rs267606894
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13084A>T rs267606896
NC_012920.1(MT-ND5):m.13094T>C rs1603224029
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND6):m.14453G>A rs199476107
NC_012920.1(MT-TA):m.5591G>A rs121434458
NC_012920.1(MT-TA):m.5610G>A rs786200951
NC_012920.1(MT-TA):m.5631G>A rs786200950
NC_012920.1(MT-TC):m.5814T>C rs200077222
NC_012920.1(MT-TE):m.14674T>C rs387906421
NC_012920.1(MT-TE):m.14674T>G rs387906421
NC_012920.1(MT-TE):m.14709T>C rs121434453
NC_012920.1(MT-TE):m.14710G>A rs1603224840
NC_012920.1(MT-TE):m.14739G>A rs1603224850
NC_012920.1(MT-TH):m.12147G>A rs121434474
NC_012920.1(MT-TI):m.4275G>A
NC_012920.1(MT-TI):m.4284G>A rs121434468
NC_012920.1(MT-TI):m.4296G>A rs1603219393
NC_012920.1(MT-TI):m.4298G>A rs1603219395
NC_012920.1(MT-TI):m.4300A>G rs121434470
NC_012920.1(MT-TK):m.8313G>A rs118192101
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-TK):m.8362T>G rs1603221423
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3242G>A rs193303018
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3243A>T rs199474657
NC_012920.1(MT-TL1):m.3251A>G rs199474662
NC_012920.1(MT-TL1):m.3252A>G rs199474661
NC_012920.1(MT-TL1):m.3255G>A rs1603218856
NC_012920.1(MT-TL1):m.3256C>T rs199474659
NC_012920.1(MT-TL1):m.3260A>G rs199474663
NC_012920.1(MT-TL1):m.3271T>C rs199474658
NC_012920.1(MT-TL1):m.3274A>G rs199474666
NC_012920.1(MT-TL1):m.3291T>C rs869312463
NC_012920.1(MT-TL1):m.3302A>G rs1603218878
NC_012920.1(MT-TL1):m.3303C>T rs199474660
NC_012920.1(MT-TL2):m.12276G>A rs1603223645
NC_012920.1(MT-TL2):m.12315G>A rs121434462
NC_012920.1(MT-TL2):m.12320A>G rs121434463
NC_012920.1(MT-TM):m.4409T>C rs118203884
NC_012920.1(MT-TN):m.5728T>C rs199476132
NC_012920.1(MT-TP):m.15967G>A rs199474701
NC_012920.1(MT-TP):m.16002T>C rs1603225633
NC_012920.1(MT-TQ):m.4332G>A rs199476141
NC_012920.1(MT-TR):m.10407G>A
NC_012920.1(MT-TS1):m.7445A>G rs199474818
NC_012920.1(MT-TS1):m.7471dup rs111033319
NC_012920.1(MT-TS1):m.7497G>A rs387906419
NC_012920.1(MT-TS1):m.7511T>C rs199474821
NC_012920.1(MT-TS1):m.7512T>C rs199474817
NC_012920.1(MT-TS2):m.12207G>A rs118203889
NC_012920.1(MT-TS2):m.12258C>T rs118203888
NC_012920.1(MT-TS2):m.12264C>T rs1603223642
NC_012920.1(MT-TT):m.15915G>A rs1603225588
NC_012920.1(MT-TW):m.5521G>A rs199474673
NC_012920.1(MT-TW):m.5532G>A rs199474674
NC_012920.1(MT-TW):m.5536_5537insT rs1603220010
NC_012920.1(MT-TW):m.5538G>A rs1603220012
NC_012920.1(MT-TW):m.5540G>A rs1603220014
NC_012920.1(MT-TW):m.5543T>C rs1603220016
NC_012920.1(MT-TY):m.5828G>A
NC_012920.1(MT-TY):m.5877C>T rs118203893
NC_012920.1(MT-TY):m.5888del rs118203892
NG_042181.1:(g.89607_91434)_(105703_107097)del
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)
NM_000069.3(CACNA1S):c.2371del (p.Leu791fs)
NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val) rs1660628086
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) rs772130841
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu)
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) rs794729166
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs) rs2148212610
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.703del (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) rs137852772
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.1070del (p.Pro357fs) rs1670051013
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1091_1128del
NM_000182.5(HADHA):c.1152del (p.Gly384_Leu385insTer)
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter) rs2147762308
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter) rs2147762267
NM_000182.5(HADHA):c.1209del (p.Val404fs)
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1319dup (p.Ala441fs) rs2147759662
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs) rs2147753741
NM_000182.5(HADHA):c.1523del (p.Leu508fs) rs754145990
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) rs137852769
NM_000182.5(HADHA):c.1540del (p.Thr514fs) rs1478391725
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
NM_000182.5(HADHA):c.1554del (p.Asp520fs) rs2147753630
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.160del (p.Ile54fs)
NM_000182.5(HADHA):c.1620+1del rs2147753555
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1654dup (p.Ala552fs) rs2147753069
NM_000182.5(HADHA):c.1689+2T>C
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.1690-17_1690-2del rs1669581856
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) rs1278248464
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1889del (p.Arg630fs)
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter) rs757671025
NM_000182.5(HADHA):c.2000+1G>A
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter) rs2147749450
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
NM_000182.5(HADHA):c.2027G>A (p.Arg676His) rs1204190984
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) rs1669501514
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter) rs774114061
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
NM_000182.5(HADHA):c.238del (p.Trp80fs)
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.294del (p.Phe98fs) rs2147784383
NM_000182.5(HADHA):c.310dup (p.Ile104fs) rs1670773680
NM_000182.5(HADHA):c.315-2A>T
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.352_353del (p.Gln118fs) rs1670695370
NM_000182.5(HADHA):c.387_388del (p.Lys129fs) rs780350631
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
NM_000182.5(HADHA):c.479_482delinsAATA (p.Ile160_Ala161delinsLysTer)
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
NM_000182.5(HADHA):c.676+1G>A rs1670587668
NM_000182.5(HADHA):c.690del (p.Lys230fs) rs2147769993
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.845T>A (p.Val282Asp) rs137852773
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000183.3(HADHB):c.1059del (p.Gly354fs) rs796051974
NM_000183.3(HADHB):c.1112del (p.Asn371fs)
NM_000183.3(HADHB):c.1137del (p.His379fs)
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) rs764623179
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000183.3(HADHB):c.1211dup (p.Gly404_Arg405insTer) rs1553323072
NM_000183.3(HADHB):c.1279G>T (p.Gly427Ter)
NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) rs121913134
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) rs267606859
NM_000183.3(HADHB):c.1389+5G>A
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.198_205dup (p.Thr69fs)
NM_000183.3(HADHB):c.209+1G>C
NM_000183.3(HADHB):c.209C>G (p.Ser70Ter)
NM_000183.3(HADHB):c.340A>G (p.Asn114Asp)
NM_000183.3(HADHB):c.357dup (p.Ala120fs) rs886037844
NM_000183.3(HADHB):c.410dup (p.Cys138fs)
NM_000183.3(HADHB):c.417del (p.Ser140fs)
NM_000183.3(HADHB):c.442+663A>G
NM_000183.3(HADHB):c.458del (p.Ala153fs)
NM_000183.3(HADHB):c.50G>A (p.Trp17Ter)
NM_000183.3(HADHB):c.568A>T (p.Lys190Ter)
NM_000183.3(HADHB):c.590_591delinsAA (p.Ser197Ter)
NM_000183.3(HADHB):c.607C>T (p.Arg203Ter)
NM_000183.3(HADHB):c.615_616insCTCTAAT (p.Phe206delinsLeuTer)
NM_000183.3(HADHB):c.630+2_630+6del
NM_000183.3(HADHB):c.631-1G>A rs1553322031
NM_000183.3(HADHB):c.637_638delinsTA (p.Ala213Ter)
NM_000183.3(HADHB):c.646G>T (p.Glu216Ter) rs2147825407
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382
NM_000183.3(HADHB):c.693del (p.Ala232fs) rs2147825515
NM_000183.3(HADHB):c.739C>T (p.Arg247Cys)
NM_000183.3(HADHB):c.747_748del (p.His249fs)
NM_000183.3(HADHB):c.776_777insT (p.Leu260fs)
NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) rs121913131
NM_000183.3(HADHB):c.811+82A>G
NM_000183.3(HADHB):c.812-2A>G
NM_000183.3(HADHB):c.881C>G (p.Pro294Arg) rs1558357879
NM_000183.3(HADHB):c.882dup (p.Ala295fs)
NM_000183.3(HADHB):c.962del (p.Met321fs)
NM_000183.3(HADHB):c.989del (p.Gly330fs) rs2147829909
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) rs2148497926
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1116del (p.Val373fs)
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.116del (p.Pro39fs) rs2038979352
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1260+15C>G
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) rs2148511970
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) rs868972342
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1644+1G>A rs398123272
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.215del (p.Tyr71_Leu72insTer)
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-1G>C
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) rs2148456062
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) rs147644722
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.403G>T (p.Glu135Ter)
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.473del (p.Lys158fs)
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) rs886039522
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.516del (p.Glu172fs) rs2039803495
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) rs2148488410
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.566_569dup (p.Lys190_Cys191insTer)
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) rs2148488506
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.624del (p.Ser209fs) rs2039846270
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.64-2A>G rs1603123976
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) rs2039919698
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) rs2148493304
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867+2T>A
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.4442T>C (p.Leu1481Pro) rs587779414
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4622A>C (p.Gln1541Pro) rs587779389
NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly) rs730880805
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter) rs1892204411
NM_000257.4(MYH7):c.4795A>C (p.Thr1599Pro) rs587779390
NM_000257.4(MYH7):c.4823G>C (p.Arg1608Pro) rs587779391
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4906G>C (p.Ala1636Pro) rs587779415
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.4985G>C (p.Arg1662Pro) rs370328209
NM_000257.4(MYH7):c.5005_5007del (p.Glu1669del) rs587779394
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5177AGA[5] (p.Lys1729dup) rs367543052
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) rs587779396
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5655+5G>A rs1595070689
NM_000257.4(MYH7):c.5655+5G>C rs1595070689
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) rs121913649
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000334.4(SCN4A):c.1123T>C (p.Cys375Arg)
NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met) rs121908552
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His) rs80338788
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His) rs527236150
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys) rs1181083611
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg) rs1598406692
NM_000334.4(SCN4A):c.3626G>T (p.Cys1209Phe)
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val) rs80338962
NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)
NM_000334.4(SCN4A):c.685del (p.Thr229fs) rs1909597270
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.4(MYL2):c.432del (p.Asp145fs) rs2071649414
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg) rs118192126
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe) rs193922836
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter) rs199895006
NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser) rs118192164
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro) rs118192127
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del) rs118192165
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu) rs118192118
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp) rs118192129
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13220del (p.Gly4407fs) rs1568583728
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro) rs118192131
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn) rs118192132
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) rs1568593922
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro) rs118192139
NM_000540.3(RYR1):c.14365-2A>T rs193922870
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro) rs118192179
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe) rs118192142
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly) rs1974129338
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp) rs118192144
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del) rs118192169
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys) rs118192146
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) rs118192147
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter) rs193922887
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg) rs118192149
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro) rs118192151
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val) rs118192148
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu) rs118192183
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly) rs118192184
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn) rs118192155
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) rs118192156
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1]) rs193922893
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met) rs118192159
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys) rs118192119
NM_000540.3(RYR1):c.1576+1G>A rs2145393963
NM_000540.3(RYR1):c.1675dup (p.Ile559fs) rs1475149579
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del) rs876661306
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs) rs1460246826
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile) rs1280346095
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs) rs1568476203
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5449del (p.Glu1817fs) rs2145545066
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu) rs118192115
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter) rs1486865637
NM_000540.3(RYR1):c.6797-6_6798del
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His) rs118192121
NM_000540.3(RYR1):c.6891+1G>T
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)
NM_000540.3(RYR1):c.7215del (p.Phe2406fs) rs1568501473
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter) rs1970064722
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7614+1G>A rs2145606794
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp) rs193922820
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs)
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) rs1568510406
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter) rs146514343
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val) rs397514735
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_001008215.3(COA5):c.157G>C (p.Ala53Pro) rs387907099
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys)
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
NM_001036.6(RYR3):c.11164+1G>A rs549279246
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) rs587777215
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) rs587777213
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) rs267607180
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) rs797045077
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) rs11539445
NM_001040436.3(YARS2):c.98C>A (p.Ser33Ter)
NM_001042631.3(SDHAF1):c.164G>C (p.Arg55Pro) rs137853193
NM_001042631.3(SDHAF1):c.169G>C (p.Gly57Arg) rs137853192
NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu) rs1976655209
NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter) rs1085307492
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001098272.3(HMGCS1):c.1289G>A (p.Arg430Lys)
NM_001098272.3(HMGCS1):c.1339T>C (p.Ser447Pro)
NM_001098272.3(HMGCS1):c.209T>C (p.Met70Thr)
NM_001098272.3(HMGCS1):c.344_345del (p.Ser115fs)
NM_001098272.3(HMGCS1):c.803G>C (p.Cys268Ser)
NM_001098272.3(HMGCS1):c.86A>T (p.Gln29Leu)
NM_001098272.3(HMGCS1):c.890G>T (p.Gly297Val)
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) rs1553255312
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) rs121909528
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu) rs2102735031
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) rs1553255293
NM_001100.4(ACTA1):c.1127G>C (p.Cys376Ser)
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.4(ACTA1):c.113G>C (p.Gly38Ala)
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) rs2102736554
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) rs1659984269
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.137T>C (p.Met46Thr) rs1057521120
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) rs367543049
NM_001100.4(ACTA1):c.145A>G (p.Met49Val)
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) rs1553255506
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) rs1659979809
NM_001100.4(ACTA1):c.165C>G (p.Tyr55Ter)
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) rs2102736416
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) rs2102736408
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.4(ACTA1):c.203C>A (p.Thr68Asn)
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.217dup (p.Ile73fs) rs1571893878
NM_001100.4(ACTA1):c.227G>A (p.Gly76Asp)
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) rs772124885
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) rs1025502215
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu) rs1659986880
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) rs1659974377
NM_001100.4(ACTA1):c.400del (p.Met134fs) rs2102736194
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro) rs1659973563
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu) rs768144106
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.4(ACTA1):c.466G>C (p.Asp156His)
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) rs1571893383
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) rs121909521
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp) rs2102735950
NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.4(ACTA1):c.541G>C (p.Asp181His)
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) rs1571893319
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) rs869312739
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) rs2102735854
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn) rs1659986226
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) rs1571893145
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr) rs2102735630
NM_001100.4(ACTA1):c.712del (p.Leu238fs) rs1211561143
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.767G>A (p.Arg256His) rs1659954003
NM_001100.4(ACTA1):c.773G>A (p.Arg258His) rs1659953887
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) rs121909527
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.4(ACTA1):c.809-1G>T
NM_001100.4(ACTA1):c.809-2A>T rs1301902450
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.4(ACTA1):c.818C>A (p.Ser273Ter)
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu) rs1553255357
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His) rs2102735278
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) rs1659944113
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) rs2102735270
NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)
NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) rs398122936
NM_001101362.3(KBTBD13):c.1170G>C (p.Lys390Asn) rs1364598710
NM_001101362.3(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter) rs1176071790
NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter) rs752326328
NM_001135254.2(PAX7):c.86-1G>A rs1570098248
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) rs104893876
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) rs28999114
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) rs104893873
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) rs104893874
NM_001159699.2(FHL1):c.358T>C (p.Cys120Arg) rs122459147
NM_001159699.2(FHL1):c.415C>T (p.His139Tyr) rs122458142
NM_001159699.2(FHL1):c.416A>T (p.His139Leu) rs267606812
NM_001159699.2(FHL1):c.417C>G (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe) rs122458143
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) rs122459146
NM_001159699.2(FHL1):c.499_507del (p.Val167_Cys169del)
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) rs122458144
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) rs122458145
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter) rs1191211949
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21375del (p.Arg7126fs)
NM_001164507.2(NEB):c.21406C>T (p.Gln7136Ter) rs2153521056
NM_001164508.2(NEB):c.10026_10027insTG (p.Lys3343Ter)
NM_001164508.2(NEB):c.1006_1018del (p.Asn336fs) rs2099738446
NM_001164508.2(NEB):c.10152C>A (p.Tyr3384Ter)
NM_001164508.2(NEB):c.1019_1020insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGG (p.Val341fs)
NM_001164508.2(NEB):c.10411G>T (p.Glu3471Ter) rs866949431
NM_001164508.2(NEB):c.10433dup (p.Asn3478fs)
NM_001164508.2(NEB):c.10441_10445del (p.Ile3480_Asn3481insTer)
NM_001164508.2(NEB):c.10465C>T (p.Gln3489Ter)
NM_001164508.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001164508.2(NEB):c.10497del (p.Gly3498_Tyr3499insTer) rs2154027821
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10598_10610del (p.His3533fs) rs2154022757
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10687A>T (p.Lys3563Ter) rs1207279110
NM_001164508.2(NEB):c.1068_1096dup (p.Ala366fs)
NM_001164508.2(NEB):c.10798del (p.Leu3600fs)
NM_001164508.2(NEB):c.10809G>A (p.Trp3603Ter) rs10172023
NM_001164508.2(NEB):c.1083T>A (p.Tyr361Ter) rs2149872738
NM_001164508.2(NEB):c.10872+1G>A rs1336053002
NM_001164508.2(NEB):c.10872+1del
NM_001164508.2(NEB):c.10872+2T>A
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.11010dup (p.Phe3671fs) rs2098273867
NM_001164508.2(NEB):c.11024dup (p.Asp3676fs) rs1560500587
NM_001164508.2(NEB):c.11031_11034del (p.Pro3678fs)
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
NM_001164508.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001164508.2(NEB):c.1109dup (p.Gln371fs)
NM_001164508.2(NEB):c.1111C>T (p.Gln371Ter)
NM_001164508.2(NEB):c.11289delT (p.Tyr3764fs)
NM_001164508.2(NEB):c.11408del (p.Glu3803fs)
NM_001164508.2(NEB):c.11412C>G (p.Tyr3804Ter)
NM_001164508.2(NEB):c.11425G>T (p.Glu3809Ter) rs2098126010
NM_001164508.2(NEB):c.11432G>A (p.Trp3811Ter)
NM_001164508.2(NEB):c.11458del (p.Asp3820fs)
NM_001164508.2(NEB):c.11473del (p.Val3825fs) rs2153992255
NM_001164508.2(NEB):c.1152+1G>C rs398124167
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.11533G>T (p.Glu3845Ter) rs755390933
NM_001164508.2(NEB):c.11538G>A (p.Trp3846Ter)
NM_001164508.2(NEB):c.1157del (p.Leu386fs) rs2149368742
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001164508.2(NEB):c.11610C>A (p.Tyr3870Ter) rs2098013896
NM_001164508.2(NEB):c.11613del (p.Lys3871fs) rs2098013713
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.11666del (p.Glu3889fs)
NM_001164508.2(NEB):c.11731C>T (p.Gln3911Ter)
NM_001164508.2(NEB):c.1173T>A (p.Tyr391Ter)
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.1184_1185dup (p.Ala396fs) rs2149367866
NM_001164508.2(NEB):c.11908C>T (p.Gln3970Ter)
NM_001164508.2(NEB):c.12074del (p.Ser4025fs) rs2153972237
NM_001164508.2(NEB):c.1215dup (p.Lys406fs)
NM_001164508.2(NEB):c.12160del (p.Trp4054fs) rs1319778592
NM_001164508.2(NEB):c.12162G>A (p.Trp4054Ter)
NM_001164508.2(NEB):c.12166del (p.Thr4056fs)
NM_001164508.2(NEB):c.12182del (p.Pro4061fs) rs2097886912
NM_001164508.2(NEB):c.12220C>T (p.Gln4074Ter)
NM_001164508.2(NEB):c.12278dup (p.Asp4094fs)
NM_001164508.2(NEB):c.12356G>A (p.Trp4119Ter) rs2153960793
NM_001164508.2(NEB):c.12374G>A (p.Trp4125Ter) rs2153960638
NM_001164508.2(NEB):c.12375del (p.Gly4124_Trp4125insTer)
NM_001164508.2(NEB):c.12394G>T (p.Glu4132Ter) rs2153960539
NM_001164508.2(NEB):c.12402_12403del (p.Asn4134fs) rs2153960473
NM_001164508.2(NEB):c.12433G>T (p.Glu4145Ter) rs2097773972
NM_001164508.2(NEB):c.12438del (p.Arg4146fs) rs2153960110
NM_001164508.2(NEB):c.12441_12442del (p.Leu4147_Tyr4148insTer) rs2153960091
NM_001164508.2(NEB):c.12447del (p.Thr4150fs)
NM_001164508.2(NEB):c.12457G>T (p.Glu4153Ter) rs2097773424
NM_001164508.2(NEB):c.12523C>T (p.Gln4175Ter) rs2153959601
NM_001164508.2(NEB):c.12554G>A (p.Trp4185Ter)
NM_001164508.2(NEB):c.12555del (p.Ala4184_Trp4185insTer) rs2097759896
NM_001164508.2(NEB):c.12558_12568del (p.Asn4186fs)
NM_001164508.2(NEB):c.12572del (p.Asn4191fs)
NM_001164508.2(NEB):c.12600_12601del (p.Glu4200fs)
NM_001164508.2(NEB):c.12639+1G>A rs2097758221
NM_001164508.2(NEB):c.12639+2T>C rs2153957684
NM_001164508.2(NEB):c.12639dup (p.Lys4214Ter)
NM_001164508.2(NEB):c.12648C>G (p.Tyr4216Ter) rs2097713802
NM_001164508.2(NEB):c.12659G>A (p.Trp4220Ter) rs2153953739
NM_001164508.2(NEB):c.12660G>A (p.Trp4220Ter)
NM_001164508.2(NEB):c.12673C>T (p.Gln4225Ter)
NM_001164508.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001164508.2(NEB):c.12709_12710del (p.Ile4237fs)
NM_001164508.2(NEB):c.12733G>T (p.Glu4245Ter) rs2097711830
NM_001164508.2(NEB):c.12736del (p.Ile4246fs) rs1176407542
NM_001164508.2(NEB):c.12738del (p.Ile4246fs) rs2097711696
NM_001164508.2(NEB):c.12767dup (p.Tyr4256Ter)
NM_001164508.2(NEB):c.12782delinsTAACCTTCCACCAAC (p.Gly4261fs) rs2153940785
NM_001164508.2(NEB):c.12819del (p.Lys4274fs) rs2153940505
NM_001164508.2(NEB):c.12820A>T (p.Lys4274Ter)
NM_001164508.2(NEB):c.12865del (p.Glu4289fs) rs2153940243
NM_001164508.2(NEB):c.12870_12871del (p.Tyr4290_Lys4291delinsTer)
NM_001164508.2(NEB):c.12984T>G (p.Tyr4328Ter)
NM_001164508.2(NEB):c.12991C>T (p.Gln4331Ter) rs1326513178
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter) rs2153939368
NM_001164508.2(NEB):c.13068C>A (p.Tyr4356Ter)
NM_001164508.2(NEB):c.13070_13071del (p.Lys4357fs)
NM_001164508.2(NEB):c.1307dup (p.Ser437fs)
NM_001164508.2(NEB):c.13081G>T (p.Glu4361Ter)
NM_001164508.2(NEB):c.13085G>A (p.Trp4362Ter) rs1449776440
NM_001164508.2(NEB):c.13099G>T (p.Gly4367Ter) rs1278785558
NM_001164508.2(NEB):c.13103G>A (p.Trp4368Ter) rs2153931339
NM_001164508.2(NEB):c.13112_13113del (p.Glu4371fs)
NM_001164508.2(NEB):c.13123G>T (p.Glu4375Ter)
NM_001164508.2(NEB):c.13131del (p.Met4377fs)
NM_001164508.2(NEB):c.13132A>T (p.Arg4378Ter)
NM_001164508.2(NEB):c.13142del (p.Asn4381fs) rs2153930968
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.13148del (p.Gln4383fs)
NM_001164508.2(NEB):c.13153_13156del (p.Asn4384_Leu4385insTer)
NM_001164508.2(NEB):c.13157T>A (p.Leu4386Ter) rs2153930856
NM_001164508.2(NEB):c.13173T>A (p.Tyr4391Ter) rs2153930733
NM_001164508.2(NEB):c.13186G>T (p.Glu4396Ter)
NM_001164508.2(NEB):c.13210_13211del (p.Ile4403_Val4404insTer)
NM_001164508.2(NEB):c.13220del (p.Pro4407fs) rs2153930361
NM_001164508.2(NEB):c.13252C>T (p.Gln4418Ter)
NM_001164508.2(NEB):c.13252_13253dup (p.Gln4418fs)
NM_001164508.2(NEB):c.13268T>A (p.Leu4423Ter)
NM_001164508.2(NEB):c.13283G>A (p.Trp4428Ter)
NM_001164508.2(NEB):c.13285G>T (p.Glu4429Ter) rs2097550591
NM_001164508.2(NEB):c.13292del (p.Glu4431fs)
NM_001164508.2(NEB):c.13323_13324insGCAATGTGAACGTGCTAATGTGAACGTG (p.Pro4442delinsAlaMetTer) rs2153925252
NM_001164508.2(NEB):c.13328del (p.Leu4443fs) rs2153925181
NM_001164508.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001164508.2(NEB):c.13341_13362del (p.Lys4448fs) rs2153924986
NM_001164508.2(NEB):c.13347del (p.Asn4450fs) rs2153925061
NM_001164508.2(NEB):c.13353_13357delinsTCTGT (p.Gln4453Ter)
NM_001164508.2(NEB):c.13359dup (p.Ile4454fs)
NM_001164508.2(NEB):c.13381C>T (p.Gln4461Ter)
NM_001164508.2(NEB):c.13385del (p.Ala4462fs)
NM_001164508.2(NEB):c.13389G>A (p.Trp4463Ter) rs2153924098
NM_001164508.2(NEB):c.13399A>T (p.Lys4467Ter)
NM_001164508.2(NEB):c.133_146del (p.Ser45fs) rs1321522421
NM_001164508.2(NEB):c.13407_13416del (p.Gly4470fs) rs2153923895
NM_001164508.2(NEB):c.13411dup (p.Tyr4471fs)
NM_001164508.2(NEB):c.13413T>A (p.Tyr4471Ter)
NM_001164508.2(NEB):c.13417del (p.Leu4473fs) rs2153923874
NM_001164508.2(NEB):c.13420C>T (p.Arg4474Ter) rs1578869371
NM_001164508.2(NEB):c.13437del (p.Ile4480fs)
NM_001164508.2(NEB):c.13441C>T (p.Gln4481Ter) rs2097548467
NM_001164508.2(NEB):c.13479T>A (p.Tyr4493Ter)
NM_001164508.2(NEB):c.13504C>T (p.Gln4502Ter) rs2153903589
NM_001164508.2(NEB):c.13507_13510del (p.Lys4503fs)
NM_001164508.2(NEB):c.13509del (p.Gly4504fs) rs2153903564
NM_001164508.2(NEB):c.13525del (p.Cys4509fs) rs2097453337
NM_001164508.2(NEB):c.13537A>T (p.Lys4513Ter) rs2097452910
NM_001164508.2(NEB):c.13551dup (p.Leu4518fs)
NM_001164508.2(NEB):c.13560G>A (p.Trp4520Ter)
NM_001164508.2(NEB):c.13593del (p.Arg4531fs) rs2153903290
NM_001164508.2(NEB):c.13599C>G (p.Tyr4533Ter) rs2153903239
NM_001164508.2(NEB):c.13631_13634dup (p.Ile4546fs) rs2153903111
NM_001164508.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001164508.2(NEB):c.13704T>G (p.Tyr4568Ter)
NM_001164508.2(NEB):c.13713C>A (p.Tyr4571Ter)
NM_001164508.2(NEB):c.13734del (p.Asp4580fs)
NM_001164508.2(NEB):c.1374C>G (p.Tyr458Ter)
NM_001164508.2(NEB):c.13751_13752dup (p.Ile4585Ter) rs2153902749
NM_001164508.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001164508.2(NEB):c.13760_13764dup (p.Lys4589fs)
NM_001164508.2(NEB):c.13761del (p.Arg4588fs)
NM_001164508.2(NEB):c.13773C>A (p.Tyr4591Ter) rs1553862114
NM_001164508.2(NEB):c.13777del (p.Leu4593fs)
NM_001164508.2(NEB):c.13780C>T (p.Gln4594Ter) rs2097449114
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.13788+1G>C rs1553862061
NM_001164508.2(NEB):c.1417C>T (p.Gln473Ter)
NM_001164508.2(NEB):c.1459C>T (p.Gln487Ter)
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.1471-1G>A rs1553605995
NM_001164508.2(NEB):c.1526del (p.Pro509fs) rs1181351466
NM_001164508.2(NEB):c.1529_1533del (p.Val510fs) rs2099599008
NM_001164508.2(NEB):c.1537C>T (p.Gln513Ter) rs1171781332
NM_001164508.2(NEB):c.1555A>T (p.Lys519Ter)
NM_001164508.2(NEB):c.1558C>T (p.Gln520Ter) rs757999917
NM_001164508.2(NEB):c.1568dup (p.Asp523fs)
NM_001164508.2(NEB):c.1605del (p.Phe535fs)
NM_001164508.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001164508.2(NEB):c.1649_1650del (p.Lys550fs)
NM_001164508.2(NEB):c.1659_1662dup (p.Asn555delinsLeuTer)
NM_001164508.2(NEB):c.16707_16710dup (p.Tyr5571fs) rs2153808894
NM_001164508.2(NEB):c.16731G>A (p.Trp5577Ter)
NM_001164508.2(NEB):c.1674+1G>A rs750585238
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.1674+2T>G
NM_001164508.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001164508.2(NEB):c.16779del (p.Val5594fs)
NM_001164508.2(NEB):c.16803_16804del (p.Phe5601fs) rs2153808479
NM_001164508.2(NEB):c.16909-1G>A rs2153806528
NM_001164508.2(NEB):c.17019_17020del (p.Tyr5674fs)
NM_001164508.2(NEB):c.17091_17094dup (p.Ala5699fs)
NM_001164508.2(NEB):c.17101dup (p.Arg5701fs)
NM_001164508.2(NEB):c.17196_17200del (p.Ile5732fs) rs1578011278
NM_001164508.2(NEB):c.17224C>T (p.Gln5742Ter) rs2153755942
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter) rs1427371913
NM_001164508.2(NEB):c.17242del (p.Arg5748fs)
NM_001164508.2(NEB):c.17310del (p.Asn5772fs)
NM_001164508.2(NEB):c.1732del (p.Asp578fs)
NM_001164508.2(NEB):c.17355C>A (p.Tyr5785Ter)
NM_001164508.2(NEB):c.17373C>A (p.Cys5791Ter) rs2153752710
NM_001164508.2(NEB):c.17415C>A (p.Tyr5805Ter) rs555516831
NM_001164508.2(NEB):c.17423_17427del (p.Gln5808fs)
NM_001164508.2(NEB):c.17430dup (p.Asn5811Ter)
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17586_17587del (p.Asp5862fs)
NM_001164508.2(NEB):c.175C>T (p.Gln59Ter) rs867732907
NM_001164508.2(NEB):c.17653_17654del (p.Trp5885fs) rs2096504394
NM_001164508.2(NEB):c.17654G>A (p.Trp5885Ter) rs1340834766
NM_001164508.2(NEB):c.17695dup (p.Leu5899fs) rs2096502530
NM_001164508.2(NEB):c.17734del (p.Gln5912fs) rs2096501278
NM_001164508.2(NEB):c.17756G>A (p.Trp5919Ter)
NM_001164508.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer) rs2096491549
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17845-1G>A rs1371849916
NM_001164508.2(NEB):c.17845-1G>C rs1371849916
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.17856del (p.Ala5953fs)
NM_001164508.2(NEB):c.17928G>A (p.Trp5976Ter)
NM_001164508.2(NEB):c.17944C>T (p.Gln5982Ter)
NM_001164508.2(NEB):c.17986del (p.Thr5996fs) rs1577890764
NM_001164508.2(NEB):c.17989A>T (p.Lys5997Ter) rs2153739384
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs) rs748358450
NM_001164508.2(NEB):c.18040C>T (p.Gln6014Ter) rs2153739049
NM_001164508.2(NEB):c.18081_18089del (p.Tyr6027_Gln6030delinsTer)
NM_001164508.2(NEB):c.1811del (p.Asn604fs)
NM_001164508.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
NM_001164508.2(NEB):c.18165C>A (p.Tyr6055Ter)
NM_001164508.2(NEB):c.18183G>A (p.Trp6061Ter)
NM_001164508.2(NEB):c.18187C>T (p.Arg6063Ter)
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001164508.2(NEB):c.18270T>A (p.Tyr6090Ter) rs2153729960
NM_001164508.2(NEB):c.18358C>T (p.Gln6120Ter)
NM_001164508.2(NEB):c.18372dup (p.Tyr6125fs)
NM_001164508.2(NEB):c.18415dup (p.Ser6139fs)
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18594del (p.Thr6199fs)
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs) rs797045735
NM_001164508.2(NEB):c.18714T>G (p.Tyr6238Ter) rs2153712099
NM_001164508.2(NEB):c.18781C>T (p.Gln6261Ter)
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.18828G>A (p.Trp6276Ter) rs2153711477
NM_001164508.2(NEB):c.18955C>T (p.Gln6319Ter)
NM_001164508.2(NEB):c.18981C>A (p.Tyr6327Ter) rs761964375
NM_001164508.2(NEB):c.19000C>T (p.Gln6334Ter)
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19036_19057del (p.Tyr6346fs)
NM_001164508.2(NEB):c.1905C>G (p.Tyr635Ter)
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter) rs2153703181
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.1920_1921delinsTT (p.Glu640_Lys641delinsAspTer)
NM_001164508.2(NEB):c.19214dup (p.Tyr6405Ter)
NM_001164508.2(NEB):c.19283_19284del (p.His6428fs)
NM_001164508.2(NEB):c.19294C>T (p.Gln6432Ter) rs2153700128
NM_001164508.2(NEB):c.1933_1934del (p.Lys645fs) rs2149172715
NM_001164508.2(NEB):c.19384_19387del (p.Pro6462fs)
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
NM_001164508.2(NEB):c.19575del (p.Asp6526fs)
NM_001164508.2(NEB):c.19621del (p.Ser6541fs) rs2153659861
NM_001164508.2(NEB):c.19635C>A (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19635C>G (p.Tyr6545Ter) rs1335300113
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter) rs2153657682
NM_001164508.2(NEB):c.19711_19714del (p.Ala6571fs) rs1577244250
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001164508.2(NEB):c.1978C>T (p.Gln660Ter)
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001164508.2(NEB):c.19813A>T (p.Lys6605Ter)
NM_001164508.2(NEB):c.19851T>A (p.Tyr6617Ter) rs2095359371
NM_001164508.2(NEB):c.19897del (p.Thr6633fs) rs2153647734
NM_001164508.2(NEB):c.19904_19914del (p.Asp6635fs)
NM_001164508.2(NEB):c.19915del (p.Ala6639fs) rs2153647595
NM_001164508.2(NEB):c.19929C>G (p.Tyr6643Ter) rs1440532058
NM_001164508.2(NEB):c.19936C>T (p.Gln6646Ter)
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.19988del (p.Arg6663fs)
NM_001164508.2(NEB):c.20157+2T>A rs1553717306
NM_001164508.2(NEB):c.20213dup (p.Asp6738fs)
NM_001164508.2(NEB):c.20225_20226del (p.Ile6742fs) rs2153617810
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.20281_20282dup (p.Phe6762fs) rs2094863263
NM_001164508.2(NEB):c.20311_20312del (p.Leu6771fs)
NM_001164508.2(NEB):c.20326del (p.Gln6776fs) rs2153615926
NM_001164508.2(NEB):c.20360_20361insA (p.Ser6788fs) rs2153615795
NM_001164508.2(NEB):c.20441_20442del (p.Arg6814fs)
NM_001164508.2(NEB):c.20446_20447del (p.Arg6816fs)
NM_001164508.2(NEB):c.20446dup (p.Arg6816fs) rs1559767662
NM_001164508.2(NEB):c.20466+2T>A
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.20536G>T (p.Glu6846Ter)
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.20633del (p.Asp6878fs) rs2094062438
NM_001164508.2(NEB):c.20644_20645dup (p.Leu6883fs) rs2153574857
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001164508.2(NEB):c.20674_20675del (p.Gln6892fs) rs2153574675
NM_001164508.2(NEB):c.20719del (p.His6907fs)
NM_001164508.2(NEB):c.2075_2076del (p.His692fs) rs2149163148
NM_001164508.2(NEB):c.20791A>T (p.Lys6931Ter)
NM_001164508.2(NEB):c.20792dup (p.Tyr6932fs)
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001164508.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001164508.2(NEB):c.20918del (p.Lys6973fs)
NM_001164508.2(NEB):c.20934C>A (p.Tyr6978Ter) rs2153554020
NM_001164508.2(NEB):c.20974A>T (p.Lys6992Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.20976del (p.Val6993fs) rs1559680233
NM_001164508.2(NEB):c.20992dup (p.Ser6998fs) rs2153553633
NM_001164508.2(NEB):c.20995A>T (p.Lys6999Ter) rs2153553617
NM_001164508.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
NM_001164508.2(NEB):c.21070del (p.His7024fs)
NM_001164508.2(NEB):c.21092_21093del (p.Thr7031fs)
NM_001164508.2(NEB):c.21108del (p.Lys7036fs)
NM_001164508.2(NEB):c.21111T>A (p.Tyr7037Ter)
NM_001164508.2(NEB):c.21124_21128del (p.Thr7042fs)
NM_001164508.2(NEB):c.21198_21199del (p.Tyr7067fs) rs2093334853
NM_001164508.2(NEB):c.21220G>T (p.Glu7074Ter)
NM_001164508.2(NEB):c.21230_21231insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTATTTGA (p.Glu7077_Arg7078insAlaGlyArgGlyGlySerArgLeuTer)
NM_001164508.2(NEB):c.21299_21302del (p.Gln7100fs)
NM_001164508.2(NEB):c.21313-666A>G
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21405dup (p.Met7136fs) rs2153515167
NM_001164508.2(NEB):c.21426C>A (p.Tyr7142Ter) rs2091275452
NM_001164508.2(NEB):c.21500_21501del (p.Lys7167fs)
NM_001164508.2(NEB):c.21628_21630+2del rs2153489310
NM_001164508.2(NEB):c.21711_21712dup (p.Asp7238fs) rs1559580467
NM_001164508.2(NEB):c.21751C>T (p.Gln7251Ter) rs373946758
NM_001164508.2(NEB):c.21793del (p.Arg7265fs)
NM_001164508.2(NEB):c.21796_21810del (p.Pro7266_Gln7270del)
NM_001164508.2(NEB):c.21875del (p.Gly7292fs)
NM_001164508.2(NEB):c.21879del (p.Gly7292_Cys7293insTer)
NM_001164508.2(NEB):c.21885_21888del (p.Val7297fs)
NM_001164508.2(NEB):c.21887_21888del (p.Ser7296fs)
NM_001164508.2(NEB):c.21933_21934insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGGAATACTTTA (p.Ile7312delinsPhePhePhePhePhePheXaaXaaXaaXaaValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_001164508.2(NEB):c.21960_21961del (p.Lys7321fs)
NM_001164508.2(NEB):c.21960dup (p.Lys7321fs)
NM_001164508.2(NEB):c.2200C>T (p.Gln734Ter) rs780299519
NM_001164508.2(NEB):c.22016del (p.Leu7339fs) rs2153453450
NM_001164508.2(NEB):c.22030_22031del (p.Val7344fs)
NM_001164508.2(NEB):c.22044_22045del (p.Val7348_Ser7349insTer) rs2153453236
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.2212-1G>A rs2149103521
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22175del (p.Lys7392fs) rs2153447885
NM_001164508.2(NEB):c.22220del (p.Leu7407fs)
NM_001164508.2(NEB):c.22229del (p.Pro7410fs)
NM_001164508.2(NEB):c.22256_22257delinsG (p.Ala7419fs) rs1559534672
NM_001164508.2(NEB):c.22276del (p.Ala7426fs)
NM_001164508.2(NEB):c.22312_22315dup (p.Thr7439fs) rs2084217268
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.22333_22339del (p.Asp7445fs)
NM_001164508.2(NEB):c.22351C>T (p.Gln7451Ter)
NM_001164508.2(NEB):c.22418dup (p.Leu7473fs) rs2084059565
NM_001164508.2(NEB):c.22477C>T (p.Gln7493Ter)
NM_001164508.2(NEB):c.22479+1G>C rs1057515575
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22591-3C>G
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22645G>T (p.Glu7549Ter) rs2080077889
NM_001164508.2(NEB):c.22651_22652del (p.Leu7551fs) rs2153386052
NM_001164508.2(NEB):c.22652del (p.Leu7551fs)
NM_001164508.2(NEB):c.22708A>T (p.Lys7570Ter)
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22728dup (p.Gly7577fs)
NM_001164508.2(NEB):c.22776dup (p.Glu7593fs) rs2079459982
NM_001164508.2(NEB):c.22792C>T (p.Gln7598Ter) rs752267876
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22812del (p.Glu7605fs) rs2153355216
NM_001164508.2(NEB):c.22813G>T (p.Glu7605Ter) rs767967099
NM_001164508.2(NEB):c.22814_22818del (p.Glu7605fs)
NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.22914T>A (p.Tyr7638Ter)
NM_001164508.2(NEB):c.22931del (p.Glu7644fs)
NM_001164508.2(NEB):c.22966del (p.Val7656fs) rs2153320686
NM_001164508.2(NEB):c.23060del (p.Gly7687fs)
NM_001164508.2(NEB):c.23134_23144del (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23175dup (p.Asn7726fs)
NM_001164508.2(NEB):c.2320A>T (p.Lys774Ter)
NM_001164508.2(NEB):c.23283del (p.Phe7761fs)
NM_001164508.2(NEB):c.23320C>T (p.Gln7774Ter)
NM_001164508.2(NEB):c.23344C>T (p.Gln7782Ter) rs2153272667
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23385T>G (p.Tyr7795Ter) rs2153218155
NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs) rs1057515574
NM_001164508.2(NEB):c.23449dup (p.Leu7817fs)
NM_001164508.2(NEB):c.23455C>T (p.Gln7819Ter)
NM_001164508.2(NEB):c.23461C>T (p.Gln7821Ter)
NM_001164508.2(NEB):c.23476_23479dup (p.Ser7827fs)
NM_001164508.2(NEB):c.23495_23496del (p.Thr7832fs)
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23498_23499insA (p.Val7834fs)
NM_001164508.2(NEB):c.23500_23501del (p.Val7834fs)
NM_001164508.2(NEB):c.23505del (p.Asp7836fs) rs2153196376
NM_001164508.2(NEB):c.23539C>T (p.Gln7847Ter)
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.23660del (p.Lys7887fs)
NM_001164508.2(NEB):c.23668dup (p.Ile7890fs)
NM_001164508.2(NEB):c.23711del (p.Arg7904fs)
NM_001164508.2(NEB):c.23746_23747dup (p.Met7916fs) rs2153115303
NM_001164508.2(NEB):c.23786_23787del (p.Val7929fs)
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23803_23806del (p.Arg7935fs)
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs) rs753192734
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.23869_23870delinsTA (p.Pro7957Ter)
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.23896_23899del (p.Arg7966fs) rs2153102752
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23937C>A (p.Tyr7979Ter)
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23939_23942dup (p.Asn7982fs) rs2153073575
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23971_23974dup (p.Thr7992fs)
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs) rs748550315
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs) rs748550315
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs) rs1553568447
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24020C>A (p.Ser8007Ter)
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24038del (p.Asn8013fs)
NM_001164508.2(NEB):c.24046A>T (p.Lys8016Ter)
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24077_24084del (p.Met8026fs) rs2153021199
NM_001164508.2(NEB):c.24084_24085del (p.Arg8028fs)
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24130_24131insGC (p.Asn8044fs)
NM_001164508.2(NEB):c.24143del (p.Gly8048fs) rs1553556154
NM_001164508.2(NEB):c.2415+1G>A rs1057524581
NM_001164508.2(NEB):c.24175_24178dup (p.Val8060fs) rs1266535163
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter) rs1037388276
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24238dup (p.Thr8080fs) rs1575024425
NM_001164508.2(NEB):c.24245T>A (p.Leu8082Ter) rs1559218052
NM_001164508.2(NEB):c.2425A>T (p.Lys809Ter)
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24267_24270dup (p.Val8091fs) rs747564597
NM_001164508.2(NEB):c.24268del (p.Arg8090fs)
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs) rs1559217202
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24286del (p.Glu8096fs)
NM_001164508.2(NEB):c.2428C>T (p.Gln810Ter)
NM_001164508.2(NEB):c.24291_24294dup (p.Ser8099delinsTyrTer) rs2061157682
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24329_24332dup (p.Pro8112fs) rs1574981296
NM_001164508.2(NEB):c.24335_24338dup (p.Pro8114fs)
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364del (p.Arg8121fs)
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24376C>T (p.Gln8126Ter)
NM_001164508.2(NEB):c.24376_24377insCC (p.Gln8126fs) rs2152954992
NM_001164508.2(NEB):c.24397_24398dup (p.Leu8133fs) rs1553545126
NM_001164508.2(NEB):c.24436_24439dup (p.Thr8147fs)
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24461_24464dup (p.His8155fs) rs2152937269
NM_001164508.2(NEB):c.24469C>T (p.Gln8157Ter)
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24510dup (p.Lys8171fs)
NM_001164508.2(NEB):c.24517_24518dup (p.Ala8174fs) rs2152876293
NM_001164508.2(NEB):c.24546del (p.Arg8183fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24575dup (p.Ser8192fs) rs2152874815
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24615_24616insCA (p.Thr8206fs)
NM_001164508.2(NEB):c.24617del (p.Thr8206fs) rs2152863770
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24667dup (p.Ser8223fs)
NM_001164508.2(NEB):c.24672+1del rs2152861881
NM_001164508.2(NEB):c.24683_24684del (p.Lys8228fs)
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24710dup (p.Pro8238fs)
NM_001164508.2(NEB):c.24722_24723del (p.Pro8241fs)
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24766-1G>C rs2152829108
NM_001164508.2(NEB):c.24798del (p.Gln8267fs)
NM_001164508.2(NEB):c.24816T>G (p.Tyr8272Ter) rs1265163979
NM_001164508.2(NEB):c.24968_24969insG (p.Asp8323fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24994_24995dup (p.Gln8333fs)
NM_001164508.2(NEB):c.24996del (p.Gln8333fs) rs1553526884
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001164508.2(NEB):c.25003A>T (p.Lys8335Ter) rs2152821411
NM_001164508.2(NEB):c.25088C>A (p.Ser8363Ter)
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter) rs760200697
NM_001164508.2(NEB):c.25153C>T (p.Gln8385Ter)
NM_001164508.2(NEB):c.25165del (p.Arg8389fs)
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter) rs121913662
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter) rs2055484249
NM_001164508.2(NEB):c.25209dup (p.Gly8404fs) rs2152777457
NM_001164508.2(NEB):c.25259C>A (p.Ser8420Ter) rs949111967
NM_001164508.2(NEB):c.25333C>T (p.Gln8445Ter) rs2152763931
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357
NM_001164508.2(NEB):c.2566_2569del (p.Ile856fs) rs2148949901
NM_001164508.2(NEB):c.2647C>T (p.Arg883Ter) rs1333519240
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001164508.2(NEB):c.2675_2678del (p.Ile892fs) rs2148844303
NM_001164508.2(NEB):c.2778C>A (p.Tyr926Ter) rs1576286971
NM_001164508.2(NEB):c.2783del (p.Pro928fs)
NM_001164508.2(NEB):c.2880_2883del (p.Trp961fs) rs2148735901
NM_001164508.2(NEB):c.288del (p.Phe96fs) rs2150918170
NM_001164508.2(NEB):c.2921_2924del (p.Arg974fs)
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.2951dup (p.Tyr984Ter)
NM_001164508.2(NEB):c.3025C>T (p.Gln1009Ter)
NM_001164508.2(NEB):c.302dup (p.Tyr101Ter)
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.3096del (p.Asp1033fs)
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3264_3265del (p.Tyr1088_Lys1089delinsTer) rs2099386637
NM_001164508.2(NEB):c.3270del (p.Asp1091fs) rs2099386610
NM_001164508.2(NEB):c.3270dup (p.Asp1091fs)
NM_001164508.2(NEB):c.331C>T (p.Gln111Ter)
NM_001164508.2(NEB):c.3342T>A (p.Tyr1114Ter)
NM_001164508.2(NEB):c.3355A>T (p.Lys1119Ter)
NM_001164508.2(NEB):c.3373G>T (p.Glu1125Ter)
NM_001164508.2(NEB):c.3384del (p.Asp1129fs) rs2099386045
NM_001164508.2(NEB):c.3390T>G (p.Tyr1130Ter)
NM_001164508.2(NEB):c.3394_3395insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATGAGA (p.Lys1132delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysArgLeuTer)
NM_001164508.2(NEB):c.3400_3401del (p.Lys1134fs) rs2148495720
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3553C>T (p.Gln1185Ter)
NM_001164508.2(NEB):c.3562_3563del (p.Gln1187_Ser1188insTer) rs2154210386
NM_001164508.2(NEB):c.3567+1G>A rs587780399
NM_001164508.2(NEB):c.3601A>T (p.Lys1201Ter) rs748453057
NM_001164508.2(NEB):c.3648del (p.Lys1218fs)
NM_001164508.2(NEB):c.3649A>T (p.Lys1217Ter)
NM_001164508.2(NEB):c.3653del (p.Lys1218fs)
NM_001164508.2(NEB):c.3664del (p.Ala1222fs)
NM_001164508.2(NEB):c.3691del (p.His1231fs)
NM_001164508.2(NEB):c.3731del (p.Pro1244fs) rs2154209597
NM_001164508.2(NEB):c.3774+1G>A rs111293259
NM_001164508.2(NEB):c.3843del (p.Leu1282fs) rs2154199737
NM_001164508.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3880-2A>G rs1342507012
NM_001164508.2(NEB):c.3889A>T (p.Lys1297Ter)
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.39C>G (p.Tyr13Ter)
NM_001164508.2(NEB):c.4022_4023dup (p.Lys1342fs)
NM_001164508.2(NEB):c.4069del (p.His1357fs)
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4132A>T (p.Lys1378Ter) rs2154193668
NM_001164508.2(NEB):c.413del (p.Arg138fs)
NM_001164508.2(NEB):c.4151_4152insAGGAACACCAAAACCAGCTACCATACCCC (p.Asp1386fs)
NM_001164508.2(NEB):c.4347G>A (p.Trp1449Ter) rs2154190685
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter) rs2099279723
NM_001164508.2(NEB):c.445del (p.His149fs) rs2150762300
NM_001164508.2(NEB):c.4485dup (p.Asn1496Ter) rs2154190331
NM_001164508.2(NEB):c.4535_4536del (p.Leu1512fs) rs2099254893
NM_001164508.2(NEB):c.4550del (p.Thr1517fs) rs2154185730
NM_001164508.2(NEB):c.4550dup (p.Ile1518fs)
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4631G>A (p.Trp1544Ter)
NM_001164508.2(NEB):c.4646_4647del (p.Ala1549fs)
NM_001164508.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001164508.2(NEB):c.4725dup (p.Tyr1576fs)
NM_001164508.2(NEB):c.4740C>A (p.Tyr1580Ter) rs766168868
NM_001164508.2(NEB):c.4751_4752del (p.Lys1584fs)
NM_001164508.2(NEB):c.4842C>G (p.Tyr1614Ter) rs2154179061
NM_001164508.2(NEB):c.4843A>T (p.Lys1615Ter) rs1237432906
NM_001164508.2(NEB):c.4924del (p.Glu1642fs)
NM_001164508.2(NEB):c.493C>T (p.Gln165Ter) rs2099785680
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5023C>T (p.Gln1675Ter)
NM_001164508.2(NEB):c.5136_5139del (p.Ser1712fs)
NM_001164508.2(NEB):c.5225_5226del (p.Leu1742fs) rs2154176983
NM_001164508.2(NEB):c.5229dup (p.Met1744fs) rs2154176971
NM_001164508.2(NEB):c.5245_5254del (p.Tyr1749fs) rs2099191297
NM_001164508.2(NEB):c.5258G>A (p.Trp1753Ter) rs776635100
NM_001164508.2(NEB):c.5309T>A (p.Leu1770Ter) rs2154175437
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5346del (p.Lys1782fs) rs2154174916
NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)
NM_001164508.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001164508.2(NEB):c.5388T>A (p.Tyr1796Ter) rs2099187757
NM_001164508.2(NEB):c.5440_5449dup (p.Tyr1818delinsCysGlnTer)
NM_001164508.2(NEB):c.5458_5459del (p.Tyr1820fs) rs2154172885
NM_001164508.2(NEB):c.5493_5494del (p.Ile1832fs) rs2154172818
NM_001164508.2(NEB):c.5523_5527del (p.Lys1842fs) rs2154172729
NM_001164508.2(NEB):c.5557C>T (p.Gln1853Ter) rs2154172676
NM_001164508.2(NEB):c.5587G>T (p.Glu1863Ter) rs1375183081
NM_001164508.2(NEB):c.5595dup (p.Lys1866fs) rs2154172582
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5783_5784del (p.Tyr1928fs)
NM_001164508.2(NEB):c.5959dup (p.Ile1987fs) rs2154168541
NM_001164508.2(NEB):c.5977dup (p.Tyr1993fs) rs2099118606
NM_001164508.2(NEB):c.5991_5992del (p.Trp1997_Glu1998delinsTer)
NM_001164508.2(NEB):c.6044del (p.Leu2015fs)
NM_001164508.2(NEB):c.6067_6068del (p.Met2023fs)
NM_001164508.2(NEB):c.6076-2A>C rs1553469514
NM_001164508.2(NEB):c.6076-2A>G rs1553469514
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.6103dup (p.Ser2035fs) rs2154154153
NM_001164508.2(NEB):c.6112_6115del (p.Lys2038fs) rs1575358650
NM_001164508.2(NEB):c.611del (p.Lys204fs) rs2150729369
NM_001164508.2(NEB):c.617del (p.Leu206fs) rs2150664716
NM_001164508.2(NEB):c.6204T>G (p.Tyr2068Ter) rs2154149362
NM_001164508.2(NEB):c.6205G>T (p.Glu2069Ter)
NM_001164508.2(NEB):c.6242_6243del (p.Leu2081fs) rs2154149251
NM_001164508.2(NEB):c.633G>A (p.Trp211Ter) rs2099780461
NM_001164508.2(NEB):c.6343_6344dup (p.Ala2117fs) rs1575295628
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.63del (p.Glu22fs) rs2150994126
NM_001164508.2(NEB):c.6542G>A (p.Trp2181Ter) rs2099082250
NM_001164508.2(NEB):c.6562del (p.Glu2188fs) rs1558883594
NM_001164508.2(NEB):c.6572del (p.Lys2191fs)
NM_001164508.2(NEB):c.6609del (p.Lys2203fs)
NM_001164508.2(NEB):c.660del (p.Tyr221fs) rs2150663206
NM_001164508.2(NEB):c.6639del (p.Phe2213fs) rs2154147691
NM_001164508.2(NEB):c.6673dup (p.Ala2225fs)
NM_001164508.2(NEB):c.6709_6710del (p.Tyr2237fs)
NM_001164508.2(NEB):c.6710del (p.Tyr2237fs) rs2099076260
NM_001164508.2(NEB):c.6722G>A (p.Trp2241Ter)
NM_001164508.2(NEB):c.6734dup (p.Thr2246fs) rs2099076059
NM_001164508.2(NEB):c.6753del (p.Met2251fs) rs2099075936
NM_001164508.2(NEB):c.6775C>T (p.Gln2259Ter) rs773605767
NM_001164508.2(NEB):c.6813_6814del (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001164508.2(NEB):c.6824del (p.Gly2275fs) rs2099060040
NM_001164508.2(NEB):c.6884dup (p.Ala2296fs)
NM_001164508.2(NEB):c.6947_6954del (p.Leu2316fs)
NM_001164508.2(NEB):c.6993del (p.Val2332fs) rs2099021112
NM_001164508.2(NEB):c.700C>T (p.Gln234Ter)
NM_001164508.2(NEB):c.7093G>T (p.Gly2365Ter)
NM_001164508.2(NEB):c.7152C>A (p.Tyr2384Ter) rs2099020340
NM_001164508.2(NEB):c.7163G>A (p.Trp2388Ter) rs2154135091
NM_001164508.2(NEB):c.7219C>T (p.Gln2407Ter) rs2099019846
NM_001164508.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001164508.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
NM_001164508.2(NEB):c.732del (p.Gly245fs) rs1486623736
NM_001164508.2(NEB):c.7335_7338del (p.Lys2445fs) rs2154134253
NM_001164508.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001164508.2(NEB):c.736del (p.Leu246fs) rs2099762296
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7431+1919_7536+374del
NM_001164508.2(NEB):c.745C>T (p.Gln249Ter)
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7527_7531del (p.Asn2509fs) rs2154122471
NM_001164508.2(NEB):c.7543dup (p.Tyr2515fs)
NM_001164508.2(NEB):c.7546C>T (p.Arg2516Ter)
NM_001164508.2(NEB):c.7551_7558del (p.Met2517fs)
NM_001164508.2(NEB):c.7611del (p.Ala2538fs)
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001164508.2(NEB):c.771del (p.Asp258fs)
NM_001164508.2(NEB):c.7892G>A (p.Trp2631Ter) rs2098919758
NM_001164508.2(NEB):c.79-1G>A
NM_001164508.2(NEB):c.7900del (p.Leu2634fs)
NM_001164508.2(NEB):c.7956+1G>A rs2098919015
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
NM_001164508.2(NEB):c.7984del (p.Trp2661_Leu2662insTer) rs2098910159
NM_001164508.2(NEB):c.7997del (p.Gly2666fs) rs2098909937
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001164508.2(NEB):c.8056del (p.Ser2686fs)
NM_001164508.2(NEB):c.8160+1G>A
NM_001164508.2(NEB):c.8234T>G (p.Leu2745Ter)
NM_001164508.2(NEB):c.8269_8270dup (p.Leu2757fs) rs2154113080
NM_001164508.2(NEB):c.82del (p.Thr27_Ile28insTer)
NM_001164508.2(NEB):c.8386del (p.Glu2796fs) rs2154105644
NM_001164508.2(NEB):c.8401del (p.Gln2801fs)
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001164508.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001164508.2(NEB):c.8545_8546dup (p.Met2849fs)
NM_001164508.2(NEB):c.855_856insGCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATAAAATC (p.Lys286delinsAlaArgLeuProLeuProLeuProSerProSerProValSerLeuSerLeuSerArgLeuXaaXaaXaaXaaLysLysLysLysLysLysArgLysTer)
NM_001164508.2(NEB):c.8585_8588del (p.Val2862fs)
NM_001164508.2(NEB):c.858del (p.Gly287fs)
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001164508.2(NEB):c.8729G>A (p.Trp2910Ter)
NM_001164508.2(NEB):c.8803C>T (p.Gln2935Ter) rs1351747266
NM_001164508.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001164508.2(NEB):c.8910G>A (p.Trp2970Ter)
NM_001164508.2(NEB):c.9211_9218del (p.Ser3071fs)
NM_001164508.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001164508.2(NEB):c.9225C>G (p.Tyr3075Ter)
NM_001164508.2(NEB):c.9283dup (p.Val3095fs)
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.934del (p.Tyr312fs) rs2150020225
NM_001164508.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001164508.2(NEB):c.9396del (p.Tyr3133fs)
NM_001164508.2(NEB):c.9414+1G>A rs1255445731
NM_001164508.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9528C>A (p.Tyr3176Ter)
NM_001164508.2(NEB):c.9532C>T (p.Gln3178Ter) rs2154073221
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9600del (p.Asn3200fs) rs2154072959
NM_001164508.2(NEB):c.9619-1G>A rs1390379576
NM_001164508.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001164508.2(NEB):c.9840C>G (p.Tyr3280Ter) rs766355387
NM_001164508.2(NEB):c.9954T>G (p.Tyr3318Ter) rs763541152
NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys) rs1558123786
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg) rs875989827
NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr)
NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp)
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter) rs1462456361
NM_001256007.3(PNPLA8):c.524del (p.Ser175fs)
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) rs786205882
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
NM_001256545.2(MEGF10):c.1169del (p.Gly390fs)
NM_001256545.2(MEGF10):c.1192G>T (p.Glu398Ter) rs200174116
NM_001256545.2(MEGF10):c.131_132del (p.Val44fs)
NM_001256545.2(MEGF10):c.1325del (p.Pro442fs) rs794726679
NM_001256545.2(MEGF10):c.1426+1G>T
NM_001256545.2(MEGF10):c.1518_1528del (p.Cys507fs) rs2126973413
NM_001256545.2(MEGF10):c.1557del (p.Trp520fs) rs1057518682
NM_001256545.2(MEGF10):c.198delinsACATTC (p.Trp66Ter) rs1580733016
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)
NM_001256545.2(MEGF10):c.2288_2297dup (p.Asp766delinsGluArgSerTer)
NM_001256545.2(MEGF10):c.2301C>A (p.Cys767Ter) rs387907071
NM_001256545.2(MEGF10):c.240T>G (p.Tyr80Ter) rs1234596293
NM_001256545.2(MEGF10):c.241C>T (p.Arg81Ter)
NM_001256545.2(MEGF10):c.2429G>A (p.Cys810Tyr)
NM_001256545.2(MEGF10):c.24C>A (p.Cys8Ter)
NM_001256545.2(MEGF10):c.2530C>T (p.Arg844Ter) rs1765909318
NM_001256545.2(MEGF10):c.2663C>G (p.Ser888Ter)
NM_001256545.2(MEGF10):c.2981-2A>G
NM_001256545.2(MEGF10):c.3094del (p.Thr1032fs) rs2127045645
NM_001256545.2(MEGF10):c.3144T>G (p.Tyr1048Ter) rs794726678
NM_001256545.2(MEGF10):c.3158C>A (p.Ser1053Ter)
NM_001256545.2(MEGF10):c.3169A>T (p.Arg1057Ter) rs1766329158
NM_001256545.2(MEGF10):c.352T>C (p.Cys118Arg)
NM_001256545.2(MEGF10):c.413_659del247 (p.Cys139fs)
NM_001256545.2(MEGF10):c.44T>A (p.Leu15Ter)
NM_001256545.2(MEGF10):c.480C>A (p.Cys160Ter)
NM_001256545.2(MEGF10):c.550C>T (p.Gln184Ter) rs1763927242
NM_001256545.2(MEGF10):c.702T>A (p.Cys234Ter)
NM_001256545.2(MEGF10):c.721C>T (p.Gln241Ter)
NM_001256545.2(MEGF10):c.815del (p.Arg272fs) rs2126934788
NM_001256545.2(MEGF10):c.976T>C (p.Cys326Arg) rs387907073
NM_001267052.2(UNC45B):c.1207T>C (p.Ser403Pro) rs2092154042
NM_001267052.2(UNC45B):c.2255+5G>C rs2092244236
NM_001267550.2(TTN):c.100172-1G>C rs2154137558
NM_001267550.2(TTN):c.100389C>A (p.Tyr33463Ter)
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.101789del (p.Leu33930fs) rs1575285509
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs) rs2154134687
NM_001267550.2(TTN):c.103749del (p.Lys34583fs) rs1689787372
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter) rs2154134221
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
NM_001267550.2(TTN):c.104849C>A (p.Ser34950Ter)
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs) rs2154133662
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105520del (p.Arg35174fs) rs1688921542
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs)
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106160C>G (p.Ser35387Ter) rs2154132755
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter) rs922408768
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr) rs768786354
NM_001267550.2(TTN):c.106541del (p.Asp35514fs) rs2154131647
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) rs794727544
NM_001267550.2(TTN):c.107224-1G>C rs112720067
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter) rs1575185742
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) rs281864932
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) rs267607156
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) rs281864933
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs) rs2154319069
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.14372-2A>C rs747942388
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.2093del (p.Lys698fs) rs2154351778
NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer) rs2093158866
NM_001267550.2(TTN):c.21404-3_21404-1delinsA rs2078833835
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter) rs886043434
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) rs794727888
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu) rs28933405
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.22973C>A (p.Ser7658Ter)
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) rs794727945
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter) rs2077159790
NM_001267550.2(TTN):c.26482G>T (p.Glu8828Ter) rs778206438
NM_001267550.2(TTN):c.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter) rs1250796004
NM_001267550.2(TTN):c.27513del (p.Pro9172fs) rs794729378
NM_001267550.2(TTN):c.28561C>T (p.Gln9521Ter)
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs) rs777924443
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs) rs2154350008
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.32312-1G>A rs2070649864
NM_001267550.2(TTN):c.32312-1G>C rs2070649864
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter) rs2154349662
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) rs1373610867
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) rs557526069
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.35713+2T>A rs774814237
NM_001267550.2(TTN):c.35756del (p.Pro11919fs) rs1241310204
NM_001267550.2(TTN):c.36203-1G>T
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) rs1553775212
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.40409-2A>C rs1560046529
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.41118del (p.Phe13706fs) rs878854305
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41608+1G>T rs2154230056
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer) rs2060125843
NM_001267550.2(TTN):c.42521G>A (p.Trp14174Ter)
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter) rs1559955466
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.44035C>T (p.Arg14679Ter) rs776970935
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281+1G>T
NM_001267550.2(TTN):c.44281+2T>C
NM_001267550.2(TTN):c.44815+1G>A rs1274007753
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs) rs1554009454
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter) rs2154212373
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.45896-2A>C
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter) rs879139686
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.46603C>T (p.Arg15535Ter) rs764654357
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.48638+1del
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter) rs2154200779
NM_001267550.2(TTN):c.49948+1G>C
NM_001267550.2(TTN):c.49948+2T>G
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) rs1576402791
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436+2T>C
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54190+1G>T
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54809del (p.Ile18270fs) rs2154194604
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57545-2A>G
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs) rs2154187022
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59127del (p.Ser19710fs) rs2050559188
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
NM_001267550.2(TTN):c.60931C>T (p.Arg20311Ter) rs869312055
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter) rs754781119
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64249_64253dup (p.Tyr21418Ter) rs794729329
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.6564dup (p.Asp2189fs)
NM_001267550.2(TTN):c.6570dup (p.Met2191fs) rs2092066056
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.66628C>T (p.Gln22210Ter) rs757047748
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.6825del (p.Asp2275fs) rs2091959062
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter) rs2154174786
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
NM_001267550.2(TTN):c.69214del (p.Ile23072fs)
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter) rs1559446852
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75435G>A (p.Trp25145Ter)
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.7599del (p.Ile2535fs) rs2091811840
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.7639del (p.Thr2547fs) rs1060500400
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77404_77405insA (p.Pro25802fs)
NM_001267550.2(TTN):c.77646del (p.Ile25883fs) rs2154167034
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79096A>T (p.Lys26366Ter)
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.79750G>T (p.Glu26584Ter)
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80584del (p.Ser26862fs) rs794729348
NM_001267550.2(TTN):c.80623_85481del (p.Asp26875fs)
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter) rs2154163535
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter) rs769821404
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) rs1559321340
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.83821G>T (p.Glu27941Ter)
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
NM_001267550.2(TTN):c.83971C>T (p.Gln27991Ter) rs1703920233
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs) rs2154159327
NM_001267550.2(TTN):c.85464_88084del2621 (p.Glu28489fs)
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>A rs1702741860
NM_001267550.2(TTN):c.86821+1G>T
NM_001267550.2(TTN):c.86889del (p.Trp28963fs) rs1559268818
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87624C>A (p.Tyr29208Ter) rs772121356
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs) rs2154153413
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88594+2T>G rs1057520744
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter) rs2154147664
NM_001267550.2(TTN):c.93088del (p.Arg31030fs) rs2154147488
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94127dup (p.Tyr31376Ter)
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395fs) rs1219954334
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.9472-1G>C
NM_001267550.2(TTN):c.9472-1G>T
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter) rs2154146081
NM_001267550.2(TTN):c.94816C>T (p.Arg31606Ter) rs1060500435
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu) rs786205367
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val) rs1553520967
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys) rs869320743
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97492+1G>T rs727505319
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98603del (p.Phe32868fs)
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) rs794729396
NM_001271208.1(NEB):c.21103delG rs1553686994
NM_001271208.2(NEB):c.18696_18697insSVAelement
NM_001271208.2(NEB):c.22378del
NM_001289808.2(CRYAB):c.325G>C (p.Asp109His) rs387907339
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly) rs104894201
NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter) rs104894202
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.514del (p.Ala172fs) rs1965352990
NM_001289808.2(CRYAB):c.60del (p.Ser21fs) rs281865141
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001382.4(DPAGT1):c.1133A>T (p.Asn378Ile)
NM_001382567.1(STIM1):c.1189del (p.Ala397fs) rs2133224258
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys) rs397514671
NM_001382567.1(STIM1):c.1437_1444dup (p.Glu482fs)
NM_001382567.1(STIM1):c.1452del (p.Ile484fs) rs1565171115
NM_001382567.1(STIM1):c.1453del (p.Val485fs)
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs) rs2135736277
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) rs748277951
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly) rs397514675
NM_001382567.1(STIM1):c.30G>A (p.Trp10Ter)
NM_001382567.1(STIM1):c.325C>A (p.His109Asn) rs397514676
NM_001382567.1(STIM1):c.325C>T (p.His109Tyr)
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) rs397514677
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) rs527236030
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs) rs1590688717
NM_001382567.1(STIM1):c.757C>T (p.Arg253Ter)
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs) rs751733169
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp) rs483352867
NM_001397406.1(FDX2):c.1A>T (p.Met1Leu) rs587777600
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) rs888630930
NM_001458.5(FLNC):c.101G>A (p.Trp34Ter)
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter) rs745495679
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter) rs2128932126
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
NM_001458.5(FLNC):c.110del (p.Ile37fs)
NM_001458.5(FLNC):c.1111dup (p.Ala371fs) rs2128934407
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
NM_001458.5(FLNC):c.1141_1142insACGC (p.Arg381fs)
NM_001458.5(FLNC):c.1145del (p.Gly382fs)
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
NM_001458.5(FLNC):c.119del (p.Asn40fs)
NM_001458.5(FLNC):c.1205del (p.Thr402fs) rs2128934432
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
NM_001458.5(FLNC):c.123del (p.Phe42fs)
NM_001458.5(FLNC):c.1260del (p.Arg421fs) rs2128934500
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
NM_001458.5(FLNC):c.1395del (p.Val466fs)
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.1463del (p.Gly488fs) rs2128934867
NM_001458.5(FLNC):c.1466_1472del (p.Val489fs)
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs) rs2128932142
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs) rs1562988883
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs) rs2128934883
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs) rs1554398092
NM_001458.5(FLNC):c.1537dup (p.Val513fs)
NM_001458.5(FLNC):c.156dup (p.Val53fs) rs2128932148
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter) rs199976790
NM_001458.5(FLNC):c.1647del (p.Thr550fs)
NM_001458.5(FLNC):c.1652G>A (p.Trp551Ter)
NM_001458.5(FLNC):c.1653G>A (p.Trp551Ter)
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter) rs376975967
NM_001458.5(FLNC):c.1670del (p.Pro557fs) rs2128935054
NM_001458.5(FLNC):c.1690C>T (p.Gln564Ter)
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter) rs2128935124
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
NM_001458.5(FLNC):c.1798G>T (p.Glu600Ter)
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter) rs2128932161
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
NM_001458.5(FLNC):c.1844dup (p.Ile616fs) rs1808318504
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs) rs1585156327
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
NM_001458.5(FLNC):c.1879_1882dup (p.Val628fs)
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter) rs2128935258
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter) rs1808320936
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter) rs757352623
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) rs1585156450
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs) rs2128935287
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs) rs2128935347
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter) rs1446694237
NM_001458.5(FLNC):c.2065_2069del (p.Glu689fs)
NM_001458.5(FLNC):c.2084del (p.Arg695fs) rs1808334682
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer) rs1585156701
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) rs1808336992
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
NM_001458.5(FLNC):c.2229del (p.Trp744fs)
NM_001458.5(FLNC):c.2234del (p.Gly745fs) rs1374893890
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer) rs2128935670
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
NM_001458.5(FLNC):c.2389+1G>T
NM_001458.5(FLNC):c.2389+2T>C rs112903432
NM_001458.5(FLNC):c.2390-10_2406del rs1554398674
NM_001458.5(FLNC):c.2432del (p.Gly811fs) rs776269505
NM_001458.5(FLNC):c.2436del (p.Ala813fs)
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2507del (p.Pro836fs) rs1808400111
NM_001458.5(FLNC):c.2508del (p.Ala838fs) rs1808400430
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter) rs1367760687
NM_001458.5(FLNC):c.2585_2586dup (p.Pro863fs)
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs) rs1808416556
NM_001458.5(FLNC):c.2604del (p.Ser868fs) rs2128935921
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter) rs771092335
NM_001458.5(FLNC):c.261del (p.Pro88fs) rs2128932217
NM_001458.5(FLNC):c.273del (p.Phe92fs)
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer) rs2128936006
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs) rs2128936013
NM_001458.5(FLNC):c.2787del (p.Val930fs)
NM_001458.5(FLNC):c.2789_2800del (p.Val930_Thr933del) rs1562995872
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
NM_001458.5(FLNC):c.280C>T (p.Gln94Ter)
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs) rs2128936072
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.2846del (p.Asp949fs) rs2128936089
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer) rs1401551498
NM_001458.5(FLNC):c.2905del (p.Ile969fs) rs2128936107
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
NM_001458.5(FLNC):c.2930-1G>A
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter) rs769865678
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
NM_001458.5(FLNC):c.3019del (p.Ser1007fs) rs2128936173
NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter) rs1554399014
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter) rs2128936189
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter) rs761978559
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs) rs2128936346
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3415del (p.His1139fs) rs1808489575
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs) rs1808505973
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3699del (p.Val1235fs) rs1808508148
NM_001458.5(FLNC):c.3702del (p.Val1235fs) rs2128936516
NM_001458.5(FLNC):c.3711del (p.Lys1237fs) rs2128936518
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
NM_001458.5(FLNC):c.3854del (p.Gly1285fs) rs1808550611
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs) rs1808555459
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
NM_001458.5(FLNC):c.4072_4085del (p.Pro1358fs)
NM_001458.5(FLNC):c.4081G>T (p.Glu1361Ter)
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4127+1G>T rs1346981294
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs) rs756985550
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) rs1562998858
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter) rs2128937285
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter) rs1554397197
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
NM_001458.5(FLNC):c.4510del (p.His1504fs)
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter) rs2128937364
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
NM_001458.5(FLNC):c.4564del (p.Gln1522fs) rs2128937368
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr) rs1562999443
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4682del (p.Glu1561fs) rs2128937556
NM_001458.5(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter) rs2128937575
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter) rs1585163755
NM_001458.5(FLNC):c.4755del (p.Lys1586fs) rs2128937622
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter) rs1808681247
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
NM_001458.5(FLNC):c.486dup (p.Gln163fs) rs2128933653
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter) rs1808708673
NM_001458.5(FLNC):c.5014del (p.Ala1672fs)
NM_001458.5(FLNC):c.5044dup (p.Val1682fs)
NM_001458.5(FLNC):c.5045del (p.Val1682fs)
NM_001458.5(FLNC):c.5049dup (p.Thr1684fs)
NM_001458.5(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
NM_001458.5(FLNC):c.5274_5281del (p.Gly1760fs)
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter) rs1808758208
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs) rs2128938104
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs) rs1808778979
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) rs371167779
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter) rs1808781579
NM_001458.5(FLNC):c.5520T>G (p.Tyr1840Ter)
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter) rs1585151331
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs) rs2128938355
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs) rs2128938360
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs) rs2128938382
NM_001458.5(FLNC):c.5620del (p.Val1874fs)
NM_001458.5(FLNC):c.563del (p.Gly188fs) rs2128933688
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter) rs1563001456
NM_001458.5(FLNC):c.5665del (p.Glu1889fs) rs2128938391
NM_001458.5(FLNC):c.5669-1del rs1563001548
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs) rs1585166614
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
NM_001458.5(FLNC):c.5678C>A (p.Ser1893Ter)
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs) rs1554400700
NM_001458.5(FLNC):c.5704del (p.Ala1902fs) rs1554400703
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs) rs2128938455
NM_001458.5(FLNC):c.5735del (p.Gly1912fs)
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) rs764539989
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn) rs1585166795
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter) rs2128938768
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs) rs1585167678
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
NM_001458.5(FLNC):c.592_593del (p.Cys198fs) rs2128933700
NM_001458.5(FLNC):c.5983del (p.Arg1995fs) rs1808872966
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
NM_001458.5(FLNC):c.6071del (p.Val2024fs) rs2128938894
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter) rs1455396332
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs) rs2128939085
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs) rs1585168573
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
NM_001458.5(FLNC):c.6342del (p.Phe2114fs)
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs) rs1808918080
NM_001458.5(FLNC):c.6447del (p.Ile2150fs) rs1563003153
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter) rs2128939246
NM_001458.5(FLNC):c.6494del (p.Phe2165fs)
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
NM_001458.5(FLNC):c.658del (p.Glu220fs) rs2128934070
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter) rs2128939316
NM_001458.5(FLNC):c.664A>G (p.Met222Val) rs2128934074
NM_001458.5(FLNC):c.6653del (p.Phe2218fs)
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs) rs2128939337
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
NM_001458.5(FLNC):c.671del (p.Gln224fs) rs2128934076
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter) rs2128939369
NM_001458.5(FLNC):c.6727+21_7065del
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs) rs1808965674
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter) rs1156444972
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs) rs2128939496
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
NM_001458.5(FLNC):c.6955del (p.Ala2319fs) rs2128939548
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
NM_001458.5(FLNC):c.6958G>T (p.Gly2320Ter)
NM_001458.5(FLNC):c.6962_6975del (p.Gly2321fs)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter) rs1554397464
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met) rs2128939561
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter) rs2128939606
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7251+1G>A rs1554401581
NM_001458.5(FLNC):c.7251+1G>T rs1554401581
NM_001458.5(FLNC):c.7261del (p.Leu2421fs) rs2128940107
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter) rs1554401756
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs) rs2128940130
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs) rs1585171628
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter) rs540386120
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter) rs948675422
NM_001458.5(FLNC):c.7466del (p.Gly2489fs)
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs) rs1554401830
NM_001458.5(FLNC):c.7510del (p.Asp2504fs) rs2128940259
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter) rs1809085817
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
NM_001458.5(FLNC):c.7562-1_7612dup
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer) rs1809097778
NM_001458.5(FLNC):c.7660del (p.Glu2554fs) rs1809103569
NM_001458.5(FLNC):c.774del (p.Lys259fs) rs1554397506
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) rs2128940399
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs) rs1809109008
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001458.5(FLNC):c.7879del (p.Ser2627fs)
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
NM_001458.5(FLNC):c.7929del (p.Leu2645fs) rs1554402015
NM_001458.5(FLNC):c.7939C>T (p.Gln2647Ter)
NM_001458.5(FLNC):c.794del (p.Gly265fs) rs2128934191
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter) rs2128940614
NM_001458.5(FLNC):c.801del (p.Val268fs) rs2128934193
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
NM_001458.5(FLNC):c.804del (p.Arg269fs)
NM_001458.5(FLNC):c.8051del (p.Val2684fs) rs1809161384
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter) rs1585173340
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001458.5(FLNC):c.862C>T (p.Gln288Ter)
NM_001458.5(FLNC):c.893_908del (p.Phe298fs) rs1808153476
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter) rs1417082178
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
NM_001843.4(CNTN1):c.1074del (p.Ile359fs) rs1592283787
NM_001843.4(CNTN1):c.1362G>A (p.Trp454Ter)
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)
NM_001843.4(CNTN1):c.1615del (p.Val539fs) rs2136952659
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter)
NM_001843.4(CNTN1):c.215dup (p.Val74fs) rs1565946117
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer) rs1592415275
NM_001843.4(CNTN1):c.2512G>T (p.Glu838Ter)
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs) rs2120819481
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter) rs1555201269
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter) rs1555201480
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs)
NM_001843.4(CNTN1):c.62del (p.Glu21fs) rs2136817458
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter)
NM_001843.4(CNTN1):c.871dup (p.Ser291fs) rs587776718
NM_001848.3(COL6A1):c.1002+1G>A rs886043700
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1003-1G>T rs886043330
NM_001848.3(COL6A1):c.1003-2A>C rs797045477
NM_001848.3(COL6A1):c.1003-2A>G rs797045477
NM_001848.3(COL6A1):c.1003-2del rs1556425835
NM_001848.3(COL6A1):c.1003-3C>A
NM_001848.3(COL6A1):c.1006del
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val) rs121912935
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del) rs398123630
NM_001848.3(COL6A1):c.1027_1056+76del rs2123473096
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001848.3(COL6A1):c.1056+1G>C rs398123631
NM_001848.3(COL6A1):c.1056+1G>T rs398123631
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001848.3(COL6A1):c.1056+2T>A
NM_001848.3(COL6A1):c.1056+2T>C rs797044456
NM_001848.3(COL6A1):c.1056+2dup
NM_001848.3(COL6A1):c.1056+3A>C rs2077772542
NM_001848.3(COL6A1):c.1056+5G>A rs886044511
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs) rs2077714727
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter) rs2123475539
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1465del (p.Ala489fs) rs797044458
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer) rs1556423728
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val) rs121912934
NM_001848.3(COL6A1):c.1591del (p.Arg531fs) rs2077819120
NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs) rs1569518771
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs) rs2077824006
NM_001848.3(COL6A1):c.1738del (p.Gln580fs) rs2123484530
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs) rs2123488904
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
NM_001848.3(COL6A1):c.1918_1922del (p.Lys640fs)
NM_001848.3(COL6A1):c.1977C>G (p.Tyr659Ter) rs121912937
NM_001848.3(COL6A1):c.2197_2200del (p.Asp733fs) rs1330933906
NM_001848.3(COL6A1):c.234C>A (p.Tyr78Ter)
NM_001848.3(COL6A1):c.2431_2434+36del rs759918870
NM_001848.3(COL6A1):c.2460C>A (p.Cys820Ter) rs2077858751
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg) rs121912936
NM_001848.3(COL6A1):c.428+1G>A rs1569517717
NM_001848.3(COL6A1):c.485del (p.Leu162fs)
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs) rs747419878
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs) rs1377090546
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter) rs1603589167
NM_001848.3(COL6A1):c.739-2A>G rs2123467538
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs) rs886043354
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.804+1G>A rs1385646650
NM_001848.3(COL6A1):c.805-2A>C rs398123639
NM_001848.3(COL6A1):c.805-2A>G rs398123639
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu) rs2077759104
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter) rs1391624796
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg) rs398123640
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp) rs1064793840
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg) rs1556425467
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp) rs1556425467
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg) rs267606746
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.857del (p.Pro286fs) rs797044457
NM_001848.3(COL6A1):c.859-2A>G
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu) rs2077761954
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp) rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu) rs1603590641
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val) rs1603590641
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
NM_001848.3(COL6A1):c.886G>A (p.Gly296Arg)
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val) rs1603590649
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg) rs2077762322
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.903+1G>T rs1569518119
NM_001848.3(COL6A1):c.903+2_903+10del
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu) rs1556425566
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.928_930del (p.Lys310del) rs886043114
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001848.3(COL6A1):c.930+1G>A rs886042902
NM_001848.3(COL6A1):c.931-1G>A rs886042354
NM_001848.3(COL6A1):c.931-1G>C rs886042354
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys) rs2123471915
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.94C>T (p.Gln32Ter)
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.3(COL6A1):c.957+1G>A rs886044535
NM_001848.3(COL6A1):c.957+1G>C
NM_001848.3(COL6A1):c.957+2T>C rs794727060
NM_001848.3(COL6A1):c.957G>A (p.Lys319=) rs1057520625
NM_001848.3(COL6A1):c.958-2A>G rs1556425717
NM_001848.3(COL6A1):c.958-2_958-1del rs2123472064
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs) rs886043164
NM_001849.4(COL6A2):c.1000-1G>T rs1555873358
NM_001849.4(COL6A2):c.1000-2A>C rs1555873356
NM_001849.4(COL6A2):c.1000-2A>G rs1555873356
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_001849.4(COL6A2):c.1053+1G>A rs886043187
NM_001849.4(COL6A2):c.1053+1G>C rs886043187
NM_001849.4(COL6A2):c.1053+2T>A rs2123631474
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1053+2T>G rs2123631474
NM_001849.4(COL6A2):c.1059del (p.Asp354fs) rs1555873508
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs) rs2078499771
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.1117-10A>G rs1568931397
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs) rs1601231322
NM_001849.4(COL6A2):c.1249del (p.Arg417fs) rs2078521344
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter) rs752730608
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
NM_001849.4(COL6A2):c.1332+2T>C rs2078532687
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
NM_001849.4(COL6A2):c.1459-2A>G rs749974929
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs)
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
NM_001849.4(COL6A2):c.1521+1G>A rs2123646873
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs) rs2078576503
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter) rs773686174
NM_001849.4(COL6A2):c.1572+1G>A rs1057520717
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.1751del (p.Pro584fs) rs886044398
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_001849.4(COL6A2):c.1771-1G>A rs748035948
NM_001849.4(COL6A2):c.1771-1G>T rs748035948
NM_001849.4(COL6A2):c.1817-2A>C
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del) rs398122821
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter) rs138948335
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter) rs1293736497
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) rs863224861
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser) rs2123663616
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) rs794727418
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter) rs531816975
NM_001849.4(COL6A2):c.2142_2143insCTTG (p.Ile715fs)
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
NM_001849.4(COL6A2):c.2206dup (p.Asp736fs)
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer) rs2078662535
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter) rs2123664803
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
NM_001849.4(COL6A2):c.2422+1G>A rs113828929
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter) rs2123454401
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs) rs2123454477
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs) rs2123454645
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter) rs1555877252
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs) rs2123454751
NM_001849.4(COL6A2):c.2605GAC[2] (p.Asp871del)
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser) rs387906608
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs) rs2123455043
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs) rs745716104
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter) rs61735833
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs) rs1555877364
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter) rs142296092
NM_001849.4(COL6A2):c.310C>T (p.Gln104Ter)
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter) rs2123615453
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs) rs1375040481
NM_001849.4(COL6A2):c.714+1G>C rs2078419667
NM_001849.4(COL6A2):c.736-1G>A rs1601221868
NM_001849.4(COL6A2):c.736-1G>C rs1601221868
NM_001849.4(COL6A2):c.736-2A>G rs1057518925
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp) rs886042943
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu) rs2078438903
NM_001849.4(COL6A2):c.801+1G>A rs794727715
NM_001849.4(COL6A2):c.801+1G>T rs794727715
NM_001849.4(COL6A2):c.801+2T>G
NM_001849.4(COL6A2):c.801+631_882del
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser) rs2123625485
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser) rs121912940
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val) rs794727788
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser) rs2078462673
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp) rs2123625569
NM_001849.4(COL6A2):c.830del (p.Gly277fs) rs1555872819
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg) rs886043323
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp) rs1568928804
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) rs267606748
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) rs886044088
NM_001849.4(COL6A2):c.855+1G>A rs1057517988
NM_001849.4(COL6A2):c.855+1G>C rs1057517988
NM_001849.4(COL6A2):c.855+4_855+7del rs2123625716
NM_001849.4(COL6A2):c.856-1G>T
NM_001849.4(COL6A2):c.856-2A>G rs886044466
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) rs727502827
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val) rs886043554
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser) rs727502828
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg) rs727502828
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) rs794727855
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu) rs2123626138
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val) rs2123626138
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg) rs797045478
NM_001849.4(COL6A2):c.900+1G>A rs886044261
NM_001849.4(COL6A2):c.900+1G>T
NM_001849.4(COL6A2):c.900+2T>G
NM_001849.4(COL6A2):c.901-6_903del rs2123627113
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser) rs886042705
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp) rs1555872965
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val) rs1555872965
NM_001849.4(COL6A2):c.954+1G>A
NM_001849.4(COL6A2):c.954G>A (p.Lys318=) rs878854362
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn) rs878854362
NM_001849.4(COL6A2):c.955-1G>A rs886044265
NM_001849.4(COL6A2):c.955-1G>C rs886044265
NM_001849.4(COL6A2):c.955-2A>C rs1555873084
NM_001849.4(COL6A2):c.955-2del rs2078477419
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
NM_001849.4(COL6A2):c.998del (p.Lys333fs) rs2123628814
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA rs2123628848
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1042C>T (p.Gln348Ter)
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)
NM_001927.4(DES):c.1069G>C (p.Ala357Pro) rs58898021
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1090C>T (p.Gln364Ter) rs1224165687
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.112del (p.Ala38fs) rs2125165857
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1171del (p.Leu391fs)
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.119dup (p.Gly41fs)
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.194dup (p.Leu66fs) rs1370206753
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
NM_001927.4(DES):c.300dup (p.Phe101fs)
NM_001927.4(DES):c.309del (p.Thr104fs) rs2125166200
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.400_410del (p.Ala134fs)
NM_001927.4(DES):c.452_459del (p.Val151fs) rs2125166454
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.525_526del (p.Val176fs) rs769096434
NM_001927.4(DES):c.525_526dup (p.Val176fs)
NM_001927.4(DES):c.549_564del (p.Leu184fs)
NM_001927.4(DES):c.566_567insCT (p.Leu190fs)
NM_001927.4(DES):c.578+2T>C
NM_001927.4(DES):c.599T>A (p.Leu200Ter) rs2125167364
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.700G>T (p.Glu234Ter) rs774739275
NM_001927.4(DES):c.720_722del (p.Lys241del) rs2125167652
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.735+1G>T rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
NM_001927.4(DES):c.7C>T (p.Gln3Ter) rs1954358233
NM_001927.4(DES):c.821T>G (p.Leu274Arg) rs267607494
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001953.4(TYMP):c.929-3G>A
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) rs28931613
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) rs786205097
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) rs1064792857
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) rs1064792858
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) rs749827433
NM_001953.5(TYMP):c.263_264del (p.Thr88fs) rs1064792886
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) rs891107196
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) rs1064792860
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) rs1064792862
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) rs199901350
NM_001953.5(TYMP):c.417+1G>A rs1603442040
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) rs1064792863
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) rs1064792864
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001953.5(TYMP):c.516+2T>C rs797044454
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) rs1064792866
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) rs121913041
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) rs1064792867
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) rs1064792868
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) rs1064792869
NM_001953.5(TYMP):c.720del (p.Val241fs) rs1064792887
NM_001953.5(TYMP):c.763_765del (p.Leu255del) rs1556488264
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) rs1064792888
NM_001953.5(TYMP):c.798_801dup (p.Ala268fs) rs761608162
NM_001953.5(TYMP):c.847C>G (p.His283Asp) rs1064792871
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.928+1G>A rs1064792876
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) rs121913040
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) rs121913040
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881
NM_001953.5(TYMP):c.99dup (p.Lys34fs) rs1064792880
NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His) rs1593846841
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys) rs564856283
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro) rs1421405659
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_002478.5(MYOD1):c.557dup (p.Arg188fs) rs1179926739
NM_002478.5(MYOD1):c.697G>T (p.Glu233Ter) rs768652299
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.350+1G>A rs1260453815
NM_002495.4(NDUFS4):c.350+5G>A rs1751865973
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs)
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter) rs1567191417
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.3(POLG):c.2515del (p.Ala839fs) rs1596352895
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala) rs1567186779
NM_002693.3(POLG):c.2674dup (p.Asp892fs) rs1283198587
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2863T>C (p.Tyr955His)
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer) rs1596348443
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter) rs139562274
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) rs1057517675
NM_003000.3(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) rs786205436
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr)
NM_003279.3(TNNC2):c.237G>C (p.Met79Ile)
NM_003283.6(TNNT1):c.120dup (p.Lys41fs) rs1555859304
NM_003283.6(TNNT1):c.16G>T (p.Glu6Ter)
NM_003283.6(TNNT1):c.194A>C (p.Asp65Ala)
NM_003283.6(TNNT1):c.287T>C (p.Leu96Pro)
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) rs2085441049
NM_003283.6(TNNT1):c.334G>T (p.Glu112Ter)
NM_003283.6(TNNT1):c.353del (p.Thr118fs) rs2085439767
NM_003283.6(TNNT1):c.415G>T (p.Glu139Ter) rs1250741190
NM_003283.6(TNNT1):c.431del (p.Ala144fs)
NM_003283.6(TNNT1):c.452del (p.Lys151fs) rs2085385176
NM_003283.6(TNNT1):c.607_610delinsTAGTGCTGT (p.Leu203_Arg204delinsTer)
NM_003283.6(TNNT1):c.611+1G>A
NM_003283.6(TNNT1):c.61dup (p.Glu21fs)
NM_003283.6(TNNT1):c.626G>A (p.Trp209Ter)
NM_003283.6(TNNT1):c.695dup (p.Leu233fs) rs2085299661
NM_003283.6(TNNT1):c.724G>C (p.Ala242Pro)
NM_003283.6(TNNT1):c.74-67C>A
NM_003283.6(TNNT1):c.78del (p.Glu27fs) rs1224321111
NM_003283.6(TNNT1):c.7_13dup (p.Glu5fs)
NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) rs199476147
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) rs199476146
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) rs199476153
NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) rs1824676022
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs) rs2154172276
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs) rs2126578081
NM_004168.4(SDHA):c.1035del (p.Ser346fs) rs2126578126
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter) rs1735691933
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
NM_004168.4(SDHA):c.1192del (p.Glu398fs)
NM_004168.4(SDHA):c.1245dup (p.Asn416fs) rs2126585710
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) rs1385076821
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) rs1579407009
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
NM_004168.4(SDHA):c.138del (p.Val47fs)
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
NM_004168.4(SDHA):c.1397dup (p.Cys467fs) rs1735798915
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
NM_004168.4(SDHA):c.1431dup (p.Gly478fs)
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
NM_004168.4(SDHA):c.1437dup (p.Lys480Ter)
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs) rs2126602655
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
NM_004168.4(SDHA):c.1547dup (p.Lys517fs) rs1554000378
NM_004168.4(SDHA):c.1552-2591A>G
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter) rs2126631964
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) rs1560985916
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1656del (p.Phe552fs) rs1736795573
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs) rs2126632404
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.1663+1G>C
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) rs137852768
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
NM_004168.4(SDHA):c.1709dup (p.Asn570fs)
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
NM_004168.4(SDHA):c.171dup (p.Val58fs) rs1553997323
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs) rs2126633505
NM_004168.4(SDHA):c.1752_1753del (p.Arg585fs)
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) rs1561010916
NM_004168.4(SDHA):c.1764dup (p.Arg589fs) rs2126633648
NM_004168.4(SDHA):c.1789dup (p.Tyr597fs)
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter) rs1734884330
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1del (p.Met1fs) rs1085307796
NM_004168.4(SDHA):c.214dup (p.Ala72fs) rs1734887425
NM_004168.4(SDHA):c.221dup (p.Leu74fs)
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) rs878854631
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.245_252del (p.Glu82fs) rs1734890180
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer) rs1560986132
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter) rs1579381753
NM_004168.4(SDHA):c.28del (p.Leu10fs) rs1579369841
NM_004168.4(SDHA):c.298_299del (p.Thr100fs) rs2126543272
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) rs750380279
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.304dup (p.Ala102fs)
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) rs1423978863
NM_004168.4(SDHA):c.310_311del (p.Gln104fs)
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs) rs876658637
NM_004168.4(SDHA):c.322_323del (p.Asn108fs) rs2126546657
NM_004168.4(SDHA):c.336del (p.Asn113fs)
NM_004168.4(SDHA):c.351del (p.Asp117fs)
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs) rs2126547233
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
NM_004168.4(SDHA):c.3G>C (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.3G>T (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.403del (p.Asp135fs)
NM_004168.4(SDHA):c.433C>T (p.Gln145Ter)
NM_004168.4(SDHA):c.447del (p.Val150fs) rs2126547751
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) rs778737664
NM_004168.4(SDHA):c.457-1G>A
NM_004168.4(SDHA):c.457-2A>G rs2126549179
NM_004168.4(SDHA):c.457-2_457del rs878854632
NM_004168.4(SDHA):c.464del (p.Asn155fs)
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter) rs2126549281
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter) rs989318548
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) rs1560980939
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter) rs1579385645
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter) rs780064103
NM_004168.4(SDHA):c.5dup (p.Val4fs)
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs) rs1579386206
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) rs775143272
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter) rs1307665893
NM_004168.4(SDHA):c.64-2A>G rs762456298
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs) rs1560989804
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter) rs2126539382
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.691dup (p.Cys231fs) rs1579391225
NM_004168.4(SDHA):c.699del (p.Val234fs) rs1175771583
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.757_758del (p.Val253fs) rs1553998254
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg) rs940845256
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter) rs1734829878
NM_004168.4(SDHA):c.83dup (p.Gly29fs) rs1734830402
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs) rs1579402188
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
NM_004168.4(SDHA):c.954del (p.Ile319fs)
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) rs1560994766
NM_004168.4(SDHA):c.99_108del (p.Phe33fs) rs1734832099
NM_004168.4(SDHA):c.99dup (p.His34fs)
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
NM_004281.4(BAG3):c.100_109del (p.Thr34fs)
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) rs1847237761
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) rs1847238300
NM_004281.4(BAG3):c.1057del (p.Gln353fs) rs2134068813
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del) rs2134068860
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1118_1125del (p.Cys373fs)
NM_004281.4(BAG3):c.1131_1134del (p.Ser377fs)
NM_004281.4(BAG3):c.1161dup (p.Lys388fs) rs1554877765
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) rs794728981
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter) rs2134069217
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter) rs765426544
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter) rs2134069248
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) rs756020699
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) rs1564767043
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
NM_004281.4(BAG3):c.160del (p.Val54fs)
NM_004281.4(BAG3):c.165del (p.Ser56fs) rs2134050674
NM_004281.4(BAG3):c.206dup (p.Ser70fs) rs1554876984
NM_004281.4(BAG3):c.257dup (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.277dup (p.Tyr93fs) rs1564773589
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
NM_004281.4(BAG3):c.329dup (p.His112fs) rs1344275862
NM_004281.4(BAG3):c.331_332del (p.Phe111fs) rs2134063372
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs) rs2134050486
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter) rs1474660052
NM_004281.4(BAG3):c.488del (p.Pro163fs) rs1847128695
NM_004281.4(BAG3):c.4dup (p.Ser2fs)
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) rs1589630001
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer) rs2134064943
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) rs1564774433
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter) rs2134065052
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) rs121918312
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter) rs2134065136
NM_004281.4(BAG3):c.654del (p.Pro219fs) rs2134065158
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
NM_004281.4(BAG3):c.727dup (p.His243fs)
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.751del (p.Gln251fs) rs1847165958
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter) rs2134065278
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.784del (p.Ala262fs)
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter) rs2134065350
NM_004281.4(BAG3):c.821C>A (p.Ser274Ter) rs143919208
NM_004281.4(BAG3):c.824del (p.Ser275fs) rs2134065363
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) rs1057518511
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) rs1847236072
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
NM_004369.4(COL6A3):c.1357_1364del (p.Ser453fs)
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter) rs1559261557
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
NM_004369.4(COL6A3):c.183del (p.Leu62fs) rs764524653
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter) rs2106367443
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
NM_004369.4(COL6A3):c.2367del (p.Ile789fs) rs2106366689
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter) rs1574719512
NM_004369.4(COL6A3):c.244C>T (p.Gln82Ter)
NM_004369.4(COL6A3):c.2469_2476del (p.Val824fs)
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) rs761796175
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter) rs1553561409
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter) rs2106361236
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
NM_004369.4(COL6A3):c.399del (p.Ala134fs) rs2106388332
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs) rs886042447
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter) rs912671116
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
NM_004369.4(COL6A3):c.4789C>T (p.Arg1597Ter)
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs) rs2077607833
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) rs121434553
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg) rs121434555
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs) rs777304794
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs) rs2106344225
NM_004369.4(COL6A3):c.6156+1G>A rs1553554298
NM_004369.4(COL6A3):c.6156+1G>T rs1553554298
NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn) rs398124125
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) rs886041329
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys) rs2106343479
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) rs397515332
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6210+1G>A rs398124126
NM_004369.4(COL6A3):c.6210+5G>A rs886044593
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) rs886043737
NM_004369.4(COL6A3):c.6212_6309+28del rs1553553313
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser) rs886044252
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) rs1553553646
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val) rs1553553646
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) rs794727188
NM_004369.4(COL6A3):c.6282+1G>A rs398124128
NM_004369.4(COL6A3):c.6283-15C>A
NM_004369.4(COL6A3):c.6283-1G>A rs2106341460
NM_004369.4(COL6A3):c.6283-2A>G rs797044988
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg) rs1574975203
NM_004369.4(COL6A3):c.6309+1G>A rs886043919
NM_004369.4(COL6A3):c.6309+1G>T rs886043919
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=) rs1574975196
NM_004369.4(COL6A3):c.6309_6309+1del rs2077385886
NM_004369.4(COL6A3):c.6310-2A>G rs1559225993
NM_004369.4(COL6A3):c.6354+1G>A rs886042883
NM_004369.4(COL6A3):c.6354+1G>T rs886042883
NM_004369.4(COL6A3):c.6355-2dup rs2077379376
NM_004369.4(COL6A3):c.6418G>T (p.Gly2140Ter)
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter)
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
NM_004369.4(COL6A3):c.6930+5G>A rs749037028
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter) rs886043113
NM_004369.4(COL6A3):c.7094del
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs) rs1323862623
NM_004369.4(COL6A3):c.7174+1del rs2106325341
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) rs878854379
NM_004369.4(COL6A3):c.7357G>T (p.Glu2453Ter)
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs) rs2106324972
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter) rs2106324666
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter) rs2077054122
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs) rs886042623
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter) rs2076967147
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) rs2106317762
NM_004369.4(COL6A3):c.8540del (p.Asn2847fs)
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter) rs767654047
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs) rs1553544667
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs) rs2106312317
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter) rs1405374416
NM_004370.5(COL12A1):c.7356del rs1473576494
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_004370.6(COL12A1):c.2252T>G (p.Leu751Ter)
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs) rs2149492561
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter) rs1582139761
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs) rs1554182935
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs) rs1582133194
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs) rs1767314344
NM_004370.6(COL12A1):c.4181del (p.Ser1394fs)
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)
NM_004370.6(COL12A1):c.4203_4204insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTATCCGCCACCGCGACAGGAACCACCCCCGCCTCGTACCGGTGCCAAACCAGAGCTATAGATCCAGGGAACCGAACAGCGCCCACAGAAAAACGGCCGCCGATCTACCACCATCGTTCTTTT (p.Arg1402delinsPhePhePhePhePhePheXaaXaaXaaXaaThrIleArgHisArgAspArgAsnHisProArgLeuValProValProAsnGlnSerTyrArgSerArgGluProAsnSerAlaHisArgLysThrAlaAlaAspLeuProProSerPhePheTer)
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter) rs1562223444
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs) rs1767268002
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)
NM_004370.6(COL12A1):c.4973dup (p.Thr1659fs)
NM_004370.6(COL12A1):c.5019del (p.Thr1674fs)
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)
NM_004370.6(COL12A1):c.54del (p.Ser19fs)
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)
NM_004370.6(COL12A1):c.5956_5957del (p.Thr1986fs)
NM_004370.6(COL12A1):c.6061C>T (p.Arg2021Ter)
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter) rs767845062
NM_004370.6(COL12A1):c.6165C>A (p.Tyr2055Ter)
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter) rs1765909471
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs) rs2149373593
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs) rs1765881602
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) rs796052093
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs) rs2149369481
NM_004370.6(COL12A1):c.7348C>T (p.Gln2450Ter)
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)
NM_004370.6(COL12A1):c.7637del (p.Ser2546fs)
NM_004370.6(COL12A1):c.7840+1G>A rs875989819
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs) rs1582068925
NM_004370.6(COL12A1):c.8100+1G>C
NM_004370.6(COL12A1):c.8100+2T>C rs1768702301
NM_004370.6(COL12A1):c.8100+2T>G
NM_004370.6(COL12A1):c.8100+3_8100+6del rs2149352927
NM_004370.6(COL12A1):c.8108del (p.Ile2703fs)
NM_004370.6(COL12A1):c.8319+1G>T
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) rs796052094
NM_004370.6(COL12A1):c.8362del (p.Gln2788fs)
NM_004370.6(COL12A1):c.8366del (p.Gly2789fs)
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter) rs1768358162
NM_004370.6(COL12A1):c.8464C>T (p.Arg2822Ter) rs984314526
NM_004370.6(COL12A1):c.8492del (p.Pro2831fs)
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs) rs2149337320
NM_004370.6(COL12A1):c.8577+1del
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004370.6(COL12A1):c.8740del (p.Gln2914fs)
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)
NM_004614.5(TK2):c.144_145del (p.Lys50fs) rs1454450104
NM_004614.5(TK2):c.1A>T (p.Met1Leu) rs973152588
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn) rs281865507
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) rs886039669
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
NM_005087.4(FXR1):c.1603+725dup
NM_005087.4(FXR1):c.1603+733del rs769011065
NM_005087.4(FXR1):c.1603+733dup
NM_005087.4(FXR1):c.1603+790_1603+793del rs1577005361
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter) rs121908508
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) rs1467767014
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter) rs2069218741
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) rs28937868
NM_005138.3(SCO2):c.401_402del (p.Pro134fs)
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) rs80358232
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) rs587777675
NM_005876.5(SPEG):c.3709_3715+29del rs587777674
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) rs587777673
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val) rs587777676
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter) rs768300296
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_006063.3(KLHL41):c.1044T>G (p.Tyr348Ter)
NM_006063.3(KLHL41):c.1093C>T (p.Gln365Ter)
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1296del (p.Lys432fs) rs1288106608
NM_006063.3(KLHL41):c.1307_1308del (p.Lys436fs) rs2105309832
NM_006063.3(KLHL41):c.1416dup (p.Gly473fs) rs749464576
NM_006063.3(KLHL41):c.1425G>A (p.Trp475Ter)
NM_006063.3(KLHL41):c.155_159del (p.Ser52fs)
NM_006063.3(KLHL41):c.1566G>A (p.Trp522Ter) rs2105312506
NM_006063.3(KLHL41):c.1632_1633del (p.Tyr545fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.1690G>T (p.Glu564Ter) rs2105312600
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.215del (p.Lys72fs) rs775513051
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.459delinsACTC (p.Ser153_Ala154insLeu) rs730882257
NM_006063.3(KLHL41):c.468dup (p.Phe157fs)
NM_006063.3(KLHL41):c.575AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.613C>T (p.Arg205Ter)
NM_006063.3(KLHL41):c.624_628del (p.Glu209fs)
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_006063.3(KLHL41):c.756_757insT (p.Lys253Ter)
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs) rs1574349645
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) rs121908458
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) rs121908460
NM_007034.5(DNAJB4):c.181A>G (p.Arg61Gly)
NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)
NM_007034.5(DNAJB4):c.785T>C (p.Leu262Ser)
NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)
NM_007078.3(LDB3):c.1074dup (p.Asp359fs)
NM_007078.3(LDB3):c.1086-247_1231+2del rs1564653469
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
NM_007078.3(LDB3):c.1343del (p.Ser448fs)
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
NM_007078.3(LDB3):c.1439dup (p.Ala482fs) rs2132482311
NM_007078.3(LDB3):c.1457dup (p.Ser486fs) rs1846883652
NM_007078.3(LDB3):c.1469G>A (p.Trp490Ter)
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs) rs1846890164
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1621C>T (p.Arg541Ter) rs779919472
NM_007078.3(LDB3):c.1653C>A (p.Cys551Ter) rs45581435
NM_007078.3(LDB3):c.1675del (p.Arg559fs)
NM_007078.3(LDB3):c.16dup (p.Thr6fs)
NM_007078.3(LDB3):c.1773del (p.Glu592fs) rs776530913
NM_007078.3(LDB3):c.1806T>A (p.Tyr602Ter) rs2132485699
NM_007078.3(LDB3):c.1968C>A (p.Tyr656Ter) rs2132487443
NM_007078.3(LDB3):c.196C>T (p.Gln66Ter) rs1554849100
NM_007078.3(LDB3):c.242del (p.Gln81fs) rs1554849133
NM_007078.3(LDB3):c.289dup (p.Gln97fs) rs2132363722
NM_007078.3(LDB3):c.319A>T (p.Lys107Ter) rs2132363967
NM_007078.3(LDB3):c.392del (p.Gly131fs)
NM_007078.3(LDB3):c.529del (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.566C>A (p.Ser189Ter)
NM_007078.3(LDB3):c.59dup (p.Lys21fs)
NM_007078.3(LDB3):c.785_818dup (p.Ser274fs)
NM_007078.3(LDB3):c.859del (p.Met287fs)
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.948_957dup (p.Ser320fs)
NM_007078.3(LDB3):c.99dup (p.Pro34fs) rs1554849000
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) rs104894632
NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs) rs1568079613
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) rs397514659
NM_007215.4(POLG2):c.729_730del (p.Pro244fs)
NM_014009.4(FOXP3):c.116_122dup (p.Gly43fs)
NM_014049.5(ACAD9):c.359del (p.Phe120fs) rs863224844
NM_014049.5(ACAD9):c.744_747del (p.Arg249fs)
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_014165.4(NDUFAF4):c.194T>C (p.Leu65Pro) rs63751061
NM_014241.4(HACD1):c.355C>T (p.Gln119Ter)
NM_014241.4(HACD1):c.373_375+2del rs1426156076
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)
NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter) rs606231257
NM_014241.4(HACD1):c.785-1G>T
NM_014241.4:c.739_740delinsN[1250]
NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)
NM_014365.3(HSPB8):c.515dup (p.Pro173fs) rs1954727159
NM_014365.3(HSPB8):c.525_529del (p.Thr176fs)
NM_014365.3(HSPB8):c.538_542del (p.Ser180fs)
NM_014365.3(HSPB8):c.562del (p.Gln188fs) rs1954727678
NM_014365.3(HSPB8):c.571del (p.Gln191fs)
NM_014365.3(HSPB8):c.576_579delinsCAG (p.Glu192fs)
NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) rs1954727878
NM_014370.4(SRPK3):c.203_204del (p.Pro68fs)
NM_015602.4(TOR1AIP1):c.11_17del (p.Asp4fs) rs1647734130
NM_015602.4(TOR1AIP1):c.186del (p.Glu62fs) rs879255612
NM_015602.4(TOR1AIP1):c.189dup (p.Pro64fs) rs1193188647
NM_015602.4(TOR1AIP1):c.343C>T (p.Arg115Ter) rs2148468809
NM_015602.4(TOR1AIP1):c.349C>T (p.Gln117Ter) rs2148468818
NM_015602.4(TOR1AIP1):c.379del (p.Thr127fs) rs2148468861
NM_015602.4(TOR1AIP1):c.462_463del (p.His155fs)
NM_015602.4(TOR1AIP1):c.583C>T (p.Arg195Ter)
NM_015602.4(TOR1AIP1):c.63dup (p.Arg22fs)
NM_015602.4(TOR1AIP1):c.663del (p.Glu222fs) rs1648457474
NM_015602.4(TOR1AIP1):c.763C>T (p.Gln255Ter) rs1648544786
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) rs2148480016
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_016213.5(TRIP4):c.1199del (p.Gln400fs)
NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)
NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp) rs869025342
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) rs1553576774
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter) rs1553578407
NM_017534.6(MYH2):c.1719del (p.Gly574fs) rs2073494828
NM_017534.6(MYH2):c.1804del (p.Asp602fs)
NM_017534.6(MYH2):c.1925del (p.Gly642fs) rs2142309612
NM_017534.6(MYH2):c.1933_1940dup (p.Ser648fs)
NM_017534.6(MYH2):c.2104_2111del (p.Asn702fs)
NM_017534.6(MYH2):c.2116G>A (p.Glu706Lys) rs121434589
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017534.6(MYH2):c.2219_2220del (p.Gln740fs)
NM_017534.6(MYH2):c.2365del (p.Gln789fs) rs2142305450
NM_017534.6(MYH2):c.2400del (p.Phe801fs) rs879255254
NM_017534.6(MYH2):c.2418del (p.Glu806fs)
NM_017534.6(MYH2):c.2461C>T (p.Gln821Ter) rs2142303605
NM_017534.6(MYH2):c.2530_2532delinsAAGAGTGCAGAAA (p.Pro844fs)
NM_017534.6(MYH2):c.2672dup (p.Asn891fs) rs763860580
NM_017534.6(MYH2):c.2956dup (p.Glu986fs)
NM_017534.6(MYH2):c.3014del (p.Leu1005fs) rs1567730339
NM_017534.6(MYH2):c.3019G>T (p.Glu1007Ter) rs1226690028
NM_017534.6(MYH2):c.3025del (p.His1009fs)
NM_017534.6(MYH2):c.3126del (p.Ser1043fs)
NM_017534.6(MYH2):c.3205del (p.Gln1069fs) rs2142299866
NM_017534.6(MYH2):c.3291_3315del (p.Gln1097fs)
NM_017534.6(MYH2):c.3467_3476del (p.Leu1156fs)
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_017534.6(MYH2):c.3697G>T (p.Glu1233Ter)
NM_017534.6(MYH2):c.3757A>T (p.Lys1253Ter) rs2142297044
NM_017534.6(MYH2):c.3817C>T (p.Gln1273Ter)
NM_017534.6(MYH2):c.3901G>T (p.Glu1301Ter)
NM_017534.6(MYH2):c.4302_4303insG (p.Met1435fs)
NM_017534.6(MYH2):c.430C>T (p.Arg144Ter)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017534.6(MYH2):c.4371+1del
NM_017534.6(MYH2):c.4420G>T (p.Glu1474Ter)
NM_017534.6(MYH2):c.4438del (p.Ala1480fs) rs2073340697
NM_017534.6(MYH2):c.4510del (p.Thr1503_Leu1504insTer)
NM_017534.6(MYH2):c.4511del (p.Leu1504fs) rs2142293598
NM_017534.6(MYH2):c.4662+2T>G rs1597448170
NM_017534.6(MYH2):c.4756del (p.Asp1586fs)
NM_017534.6(MYH2):c.4810C>T (p.Gln1604Ter) rs772613828
NM_017534.6(MYH2):c.4842del (p.Asn1615fs) rs2073330917
NM_017534.6(MYH2):c.4894G>T (p.Glu1632Ter)
NM_017534.6(MYH2):c.5332del (p.Glu1778fs)
NM_017534.6(MYH2):c.5554C>T (p.Arg1852Ter)
NM_017534.6(MYH2):c.5575C>T (p.Gln1859Ter)
NM_017534.6(MYH2):c.5594_5597del (p.Lys1865fs) rs1567726515
NM_017534.6(MYH2):c.5609T>C (p.Leu1870Pro) rs786201023
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.706G>A (p.Ala236Thr) rs147708782
NM_017534.6(MYH2):c.732_738dup (p.Phe247fs)
NM_017534.6(MYH2):c.904+1G>A rs879255253
NM_017534.6(MYH2):c.95_96del (p.Pro31_Phe32insTer)
NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_018116.4(MSTO1):c.1099-1G>A rs745944305
NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu) rs1553295536
NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)
NM_018116.4(MSTO1):c.1259del (p.Gly420fs) rs1248439783
NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter) rs1673545403
NM_018480.7(TMEM126B):c.320_321del (p.Tyr107fs) rs752316853
NM_020451.2(SELENON):c.-55_183del rs1572226620
NM_020451.2(SELENON):c.1385G>A (p.Sec462=) rs587776597
NM_020451.3(SELENON):c.*1107T>C rs2048015293
NM_020451.3(SELENON):c.-10_135del (p.Met1fs)
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.-21_183+6del
NM_020451.3(SELENON):c.-26_12del (p.Met1fs) rs2047846279
NM_020451.3(SELENON):c.-30_64del (p.Met1fs)
NM_020451.3(SELENON):c.1069del (p.Val357fs)
NM_020451.3(SELENON):c.1086dup (p.Pro363fs) rs2124450830
NM_020451.3(SELENON):c.1168del (p.Leu390fs)
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter) rs747284477
NM_020451.3(SELENON):c.1189C>T (p.Gln397Ter)
NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)
NM_020451.3(SELENON):c.1282-13G>A
NM_020451.3(SELENON):c.1282-1G>T
NM_020451.3(SELENON):c.1314_1317del (p.Asp438fs) rs2124452873
NM_020451.3(SELENON):c.1332_1334del (p.Asn444del) rs1553120691
NM_020451.3(SELENON):c.1384T>G rs121908187
NM_020451.3(SELENON):c.1387+1G>A rs2047977957
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) rs797044621
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.142del (p.Val48fs)
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.160G>T (p.Glu54Ter) rs2047850525
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) rs1557814050
NM_020451.3(SELENON):c.180del (p.Gln61fs) rs1557814066
NM_020451.3(SELENON):c.18_46del (p.Gly7fs) rs2124436429
NM_020451.3(SELENON):c.19_47dup (p.Ala18fs) rs2047848157
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs) rs1553198611
NM_020451.3(SELENON):c.2T>C (p.Met1Thr) rs1174570887
NM_020451.3(SELENON):c.2T>G (p.Met1Arg) rs1174570887
NM_020451.3(SELENON):c.301+2T>C
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.404-1G>A rs1005071009
NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) rs797044620
NM_020451.3(SELENON):c.4_5insCCCG (p.Gly2fs)
NM_020451.3(SELENON):c.572G>A (p.Trp191Ter) rs2047929645
NM_020451.3(SELENON):c.643del (p.Gln215fs) rs2047931126
NM_020451.3(SELENON):c.665G>A (p.Trp222Ter) rs1553120047
NM_020451.3(SELENON):c.683_689dup (p.Met230fs) rs1553120055
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
NM_020451.3(SELENON):c.700_701insC (p.Tyr234fs) rs2124447526
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.746_747+36del rs2047932848
NM_020451.3(SELENON):c.748-2_760del rs758934983
NM_020451.3(SELENON):c.773del (p.Met258fs)
NM_020451.3(SELENON):c.817G>A (p.Gly273Arg) rs2124448034
NM_020451.3(SELENON):c.818G>A (p.Gly273Glu) rs121908182
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_020451.3(SELENON):c.890_981dup (p.Asp328fs)
NM_020451.3(SELENON):c.8_12dup (p.Arg5fs) rs1572226744
NM_020451.3(SELENON):c.8_9insTGCCGGGCCG (p.Arg5fs) rs2124436380
NM_020451.3(SELENON):c.921G>A (p.Trp307Ter) rs1553120202
NM_020451.3(SELENON):c.963dup (p.Asp322fs)
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_020451.3(SELENON):c.9_33del (p.Ala4fs) rs886041619
NM_020647.4(JPH1):c.1510del (p.Glu504fs)
NM_020647.4(JPH1):c.1738del (p.Leu580fs)
NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)
NM_020647.4(JPH1):c.373del (p.Asp125fs)
NM_021738.3(SVIL):c.3578_3579del (p.Val1193fs) rs1948690345
NM_021738.3(SVIL):c.4812C>A (p.Tyr1604Ter) rs753121062
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) rs111033576
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) rs111033577
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) rs1554887213
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) rs111033574
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) rs111033572
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) rs1159929268
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) rs111033575
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_024854.5(PYROXD1):c.1061A>G (p.Tyr354Cys)
NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs) rs1057518755
NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)
NM_024854.5(PYROXD1):c.414+1G>A rs1057518754
NM_024854.5(PYROXD1):c.73del (p.Cys25fs)
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025215.6(PUS1):c.107_122dup (p.Cys42fs)
NM_025215.6(PUS1):c.1122C>G (p.Tyr374Ter) rs779193823
NM_025215.6(PUS1):c.45G>A (p.Trp15Ter) rs895175332
NM_025215.6(PUS1):c.460C>T (p.Gln154Ter)
NM_025215.6(PUS1):c.658G>T (p.Glu220Ter) rs104894372
NM_032578.4(MYPN):c.1973+1G>C
NM_032578.4(MYPN):c.1974-2A>C
NM_032578.4(MYPN):c.2003del (p.Asn668fs) rs1057519570
NM_032578.4(MYPN):c.3076-2A>C rs1057519571
NM_032578.4(MYPN):c.3158+1G>A
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) rs1057519573
NM_032608.7(MYO18B):c.1195del (p.Gln399fs) rs2145587855
NM_032608.7(MYO18B):c.2212-1G>A
NM_032608.7(MYO18B):c.2848C>T (p.Gln950Ter)
NM_032608.7(MYO18B):c.3775+1G>T
NM_032608.7(MYO18B):c.4087C>T (p.Arg1363Ter)
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)
NM_032608.7(MYO18B):c.6496G>T (p.Glu2166Ter) rs869312740
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs) rs756408696
NM_032608.7(MYO18B):c.6768del (p.Leu2257fs) rs1569308524
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032608.7(MYO18B):c.7015del (p.Leu2339fs)
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
NM_032790.4(ORAI1):c.290C>G (p.Ser97Cys) rs1555322610
NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser) rs786204796
NM_032790.4(ORAI1):c.734C>T (p.Pro245Leu) rs587777528
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_079420.3(MYL1):c.479-2A>G rs1559659233
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) rs879255617
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_138638.5(CFL2):c.100_103del (p.Lys34fs) rs1885387438
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr) rs80358250
NM_138638.5(CFL2):c.154_157del (p.Ala52fs)
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138638.5(CFL2):c.338del (p.Ser113fs) rs1594784544
NM_138638.5(CFL2):c.4-115A>C
NM_138638.5(CFL2):c.4-115A>G
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) rs121909273
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) rs121909274
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_145064.3(STAC3):c.297_301del (p.Pro100fs)
NM_145064.3(STAC3):c.383_399del (p.His128fs) rs1555194630
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)
NM_145064.3(STAC3):c.694del (p.Ala232fs) rs774555559
NM_145064.3(STAC3):c.763_766del (p.Leu255fs) rs773050511
NM_145064.3(STAC3):c.816_817del (p.Lys273fs)
NM_145064.3(STAC3):c.997-1G>T rs779483367
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.138del (p.Met47fs)
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.654AGA[1] (p.Glu219del) rs876661407
NM_152263.4(TPM3):c.670GAA[1] (p.Glu225del) rs876661406
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_152393.4(KLHL40):c.1281_1294del (p.Cys428fs) rs770267750
NM_152393.4(KLHL40):c.1292C>A (p.Ser431Ter)
NM_152393.4(KLHL40):c.1302C>A (p.Cys434Ter)
NM_152393.4(KLHL40):c.134del (p.Pro45fs)
NM_152393.4(KLHL40):c.1395C>A (p.Tyr465Ter) rs139588377
NM_152393.4(KLHL40):c.1405G>T (p.Gly469Cys) rs367579275
NM_152393.4(KLHL40):c.1450dup (p.Asp484fs)
NM_152393.4(KLHL40):c.1489C>T (p.Gln497Ter) rs1697319878
NM_152393.4(KLHL40):c.1608-1G>A rs2125846068
NM_152393.4(KLHL40):c.1608-1G>C
NM_152393.4(KLHL40):c.1612G>C (p.Ala538Pro) rs397509421
NM_152393.4(KLHL40):c.173del (p.Phe58fs) rs1697260724
NM_152393.4(KLHL40):c.205_214del (p.Ala69fs) rs2125844554
NM_152393.4(KLHL40):c.211G>T (p.Glu71Ter) rs375331819
NM_152393.4(KLHL40):c.223G>T (p.Glu75Ter) rs2125844563
NM_152393.4(KLHL40):c.270C>G (p.Tyr90Ter)
NM_152393.4(KLHL40):c.275C>G (p.Ser92Ter)
NM_152393.4(KLHL40):c.544_545del (p.Ser182fs) rs1384412486
NM_152393.4(KLHL40):c.58C>T (p.Gln20Ter) rs1292866391
NM_152393.4(KLHL40):c.602G>T (p.Trp201Leu) rs397509420
NM_152393.4(KLHL40):c.631del (p.Ala211fs) rs752734208
NM_152393.4(KLHL40):c.703G>T (p.Glu235Ter) rs768335581
NM_152393.4(KLHL40):c.818dup (p.Lys275fs) rs1575218831
NM_152393.4(KLHL40):c.928del (p.Leu310fs) rs1055019439
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_178554.6(KY):c.1071del (p.Thr358fs) rs886037917
NM_178554.6(KY):c.405C>A (p.Tyr135Ter) rs377332009
NM_178554.6(KY):c.481C>T (p.Gln161Ter)
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) rs1057519129
NM_198271.5(LMOD3):c.1012G>T (p.Glu338Ter)
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) rs778840325
NM_198271.5(LMOD3):c.102del (p.Glu34fs) rs2092412254
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) rs724159965
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)
NM_198271.5(LMOD3):c.1192del (p.Arg398fs) rs2107526137
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) rs2107526111
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) rs2092391598
NM_198271.5(LMOD3):c.1372C>T (p.Gln458Ter)
NM_198271.5(LMOD3):c.138dup (p.Ser47fs) rs727502797
NM_198271.5(LMOD3):c.1434C>G (p.Tyr478Ter)
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) rs2107525795
NM_198271.5(LMOD3):c.1543_1544del (p.Ile515fs)
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) rs1369933918
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) rs199655993
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs) rs1274699363
NM_198271.5(LMOD3):c.476del (p.Gly159fs) rs1426709672
NM_198271.5(LMOD3):c.637dup (p.Ile213fs)
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) rs2092396963
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_198271.5(LMOD3):c.780del (p.Asn261fs)
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) rs1212229943
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
NM_198271.5(LMOD3):c.971del (p.Gly324fs) rs2107526351
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) rs797045065
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
NM_213720.3(CHCHD10):c.172G>C (p.Gly58Arg) rs730880033
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NM_213720.3(CHCHD10):c.44_45delinsTT (p.Arg15Leu) rs2145927350
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
Single allele
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
c.52_53delCT
m.10438A>G rs121434456
m.10450A>G rs387906731
m.5556G>A rs387906736
p.L4796C
p.M2434K

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