ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 983
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_004614.5(TK2):c.415G>A (p.Ala139Thr) rs138479499 0.00013
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser) rs767106920 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000183.3(HADHB):c.182G>A (p.Arg61His) rs121913132 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) rs182614164 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 0.00005
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478 0.00004
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp) rs528417986 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser) rs375329638 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 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.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) rs1032930719 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691 0.00004
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 0.00004
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn) rs767281996 0.00003
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) rs149682171 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) rs141497053 0.00003
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.18472-1G>C rs1203257517 0.00003
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter) rs542074139 0.00003
NM_002693.3(POLG):c.2420G>A (p.Arg807His) rs796052887 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) rs121918049 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) rs267606971 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000070.3(CAPN3):c.2440-1G>A rs886044052 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs) rs759632485 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001130987.2(DYSF):c.1149+1G>A rs398123763 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_001267550.2(TTN):c.56572C>T (p.Arg18858Ter) rs745376275 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) rs763393580 0.00002
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) rs775173963 0.00002
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp) rs150132839 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005476.7(GNE):c.32G>A (p.Arg11Gln) rs1401082365 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_017739.4(POMGNT1):c.1649+1G>A rs752700398 0.00002
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu) rs59601651 0.00002
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp) rs781723572 0.00001
NM_000070.3(CAPN3):c.149A>G (p.Asn50Ser) rs1262587749 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.2184G>A (p.Gln728=) rs886043220 0.00001
NM_000070.3(CAPN3):c.550A>G (p.Thr184Ala) rs1159580160 0.00001
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg) rs1345121557 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_000183.3(HADHB):c.901G>A (p.Gly301Ser) rs891954464 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 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.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln) rs1210934866 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000426.4(LAMA2):c.2322+1G>C rs945091158 0.00001
NM_000426.4(LAMA2):c.3038-7G>A rs767841898 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) rs1463264889 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.14129+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) rs762813092 0.00001
NM_001077365.2(POMT1):c.313C>T (p.Arg105Cys) rs1289335417 0.00001
NM_001077365.2(POMT1):c.699+62del rs1356791510 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001079802.2(FKTN):c.369+1G>C rs764125009 0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001130987.2(DYSF):c.1276+5G>A rs766433603 0.00001
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys) rs28937581 0.00001
NM_001130987.2(DYSF):c.4387+2T>C rs759939755 0.00001
NM_001130987.2(DYSF):c.460+1G>A rs1278864604 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter) rs1476505138 0.00001
NM_001130987.2(DYSF):c.889-2A>G rs934428561 0.00001
NM_001164508.2(NEB):c.1365+2T>C rs770797137 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.2415+2T>C rs1057517399 0.00001
NM_001164508.2(NEB):c.294+1G>A rs759956258 0.00001
NM_001164508.2(NEB):c.295-2A>G rs1428300892 0.00001
NM_001164508.2(NEB):c.37-1G>A rs1428597732 0.00001
NM_001164508.2(NEB):c.6076-1G>T rs1553469502 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter) rs1064793560 0.00001
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter) rs1260821931 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.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.56051-1G>A rs1385817640 0.00001
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) rs797044692 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 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.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs) rs794729351 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter) rs2069504242 0.00001
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) rs758112770 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 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_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser) rs966918577 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) rs775932206 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) rs515726189 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1152+2T>C rs1553163335 0.00001
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.652+1G>T rs386834035 0.00001
NM_017739.4(POMGNT1):c.751+1G>A rs1247668825 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_021942.6(TRAPPC11):c.100C>T (p.Arg34Ter) rs569565392 0.00001
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681 0.00001
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904 0.00001
NM_025215.6(PUS1):c.883C>T (p.Arg295Trp) rs869025309 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.2117G>A (p.Arg706Gln) rs926233739 0.00001
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.984-2A>G
NM_000069.3(CACNA1S):c.1112del (p.Thr371fs)
NM_000069.3(CACNA1S):c.1395del (p.Asp465fs)
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.2658-2A>C
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) rs80338782
NM_000069.3(CACNA1S):c.3326dup (p.Tyr1109Ter)
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)
NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) rs1553248947
NM_000069.3(CACNA1S):c.4113+2T>C
NM_000069.3(CACNA1S):c.4860del (p.Val1621fs)
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)
NM_000070.3(CAPN3):c.1202A>T (p.Tyr401Phe) rs371784007
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1309C>G (p.Arg437Gly)
NM_000070.3(CAPN3):c.1342C>G (p.Arg448Gly) rs776043976
NM_000070.3(CAPN3):c.1469delinsTC (p.Arg490fs) rs2141199752
NM_000070.3(CAPN3):c.1477C>G (p.Arg493Gly) rs557164942
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1633C>T (p.Gln545Ter)
NM_000070.3(CAPN3):c.1642del (p.Arg548fs) rs1555422293
NM_000070.3(CAPN3):c.1706T>C (p.Phe569Ser) rs886044483
NM_000070.3(CAPN3):c.1915-2A>C
NM_000070.3(CAPN3):c.1993-2A>G
NM_000070.3(CAPN3):c.2116-1G>A
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2235C>A (p.Tyr745Ter) rs147774793
NM_000070.3(CAPN3):c.2306G>T (p.Arg769Leu)
NM_000070.3(CAPN3):c.2441G>A (p.Trp814Ter)
NM_000070.3(CAPN3):c.2442G>A (p.Trp814Ter)
NM_000070.3(CAPN3):c.250G>T (p.Glu84Ter)
NM_000070.3(CAPN3):c.433del (p.Leu145fs) rs2141160577
NM_000070.3(CAPN3):c.503G>A (p.Trp168Ter) rs1555420462
NM_000070.3(CAPN3):c.616del (p.Glu206fs) rs2053446296
NM_000070.3(CAPN3):c.633-2A>G
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter) rs757448865
NM_000070.3(CAPN3):c.883_886dup (p.Asn296delinsArgTer)
NM_000070.3(CAPN3):c.949dup (p.Ile317fs)
NM_000182.5(HADHA):c.1030del (p.His344fs)
NM_000182.5(HADHA):c.1036C>T (p.Gln346Ter)
NM_000182.5(HADHA):c.1091_1128del
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1689+1G>T
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.180_180+5delinsAT rs1553316142
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.191dup (p.Ser65fs)
NM_000182.5(HADHA):c.2000+1G>A
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
NM_000182.5(HADHA):c.2027G>A (p.Arg676His) rs1204190984
NM_000182.5(HADHA):c.28del (p.Leu10fs)
NM_000182.5(HADHA):c.317delinsAGG (p.Met106fs)
NM_000182.5(HADHA):c.488_489del (p.Lys163fs)
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.68del
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
NM_000182.5(HADHA):c.799+1G>A
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.919-1G>A
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000183.3(HADHB):c.65-1G>C
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln) rs375654005
NM_000183.3(HADHB):c.725A>G (p.Asp242Gly)
NM_000183.3(HADHB):c.811+1G>A
NM_000231.3(SGCG):c.249dup (p.Ser84fs)
NM_000231.3(SGCG):c.320C>T (p.Ser107Leu)
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.578+1G>C rs1555245353
NM_000231.3(SGCG):c.61C>T (p.Gln21Ter)
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.657del (p.Val220fs)
NM_000232.5(SGCB):c.753+1G>A
NM_000252.3(MTM1):c.492G>A (p.Trp164Ter)
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.428G>C (p.Arg143Pro) rs397516209
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000334.4(SCN4A):c.1043dup (p.Tyr349fs)
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1452+1G>T
NM_000334.4(SCN4A):c.2377-1G>A
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)
NM_000334.4(SCN4A):c.4665del (p.Asn1556fs)
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_000334.4(SCN4A):c.5061_5062insAGGTGACT (p.Leu1688delinsArgTer)
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5431_5434dup (p.Pro1812fs)
NM_000334.4(SCN4A):c.881G>A (p.Trp294Ter)
NM_000334.4(SCN4A):c.936G>A (p.Trp312Ter)
NM_000337.6(SGCD):c.370C>T (p.Gln124Ter)
NM_000426.4(LAMA2):c.1028-1G>A rs1562281922
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1506del (p.Gly503fs)
NM_000426.4(LAMA2):c.1593C>G (p.Tyr531Ter)
NM_000426.4(LAMA2):c.1726C>T (p.Gln576Ter)
NM_000426.4(LAMA2):c.1748_1751dup (p.Trp584Ter)
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1922dup (p.Tyr642fs)
NM_000426.4(LAMA2):c.3555+1G>A rs1057518119
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter) rs1554269891
NM_000426.4(LAMA2):c.3964A>T (p.Arg1322Ter)
NM_000426.4(LAMA2):c.4087G>T (p.Glu1363Ter)
NM_000426.4(LAMA2):c.4141_4142del (p.Asp1381fs)
NM_000426.4(LAMA2):c.4150_4156delinsTGGGC (p.Leu1384fs)
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.4437-1G>A
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4550del (p.Pro1517fs)
NM_000426.4(LAMA2):c.4717+1G>C rs1131691660
NM_000426.4(LAMA2):c.4860+1del
NM_000426.4(LAMA2):c.5194_5195insT (p.Asn1732fs)
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5820del (p.Val1941fs) rs2114697790
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter) rs1781395670
NM_000426.4(LAMA2):c.6085+1_6085+38delinsTTT
NM_000426.4(LAMA2):c.6086_6104delinsC (p.Asp2029_Gln2035delinsAla)
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs)
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6573+1G>A rs757435241
NM_000426.4(LAMA2):c.659del (p.Asn220fs)
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter)
NM_000426.4(LAMA2):c.6707+1G>T
NM_000426.4(LAMA2):c.6708-1G>C
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs) rs1562581261
NM_000426.4(LAMA2):c.6894dup (p.Phe2299fs)
NM_000426.4(LAMA2):c.6993-1G>C
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs)
NM_000426.4(LAMA2):c.7899-2_7902del
NM_000426.4(LAMA2):c.7957C>T (p.Gln2653Ter)
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.850G>A (p.Gly284Arg)
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs) rs1785973861
NM_000426.4(LAMA2):c.8858-1G>A rs1554319117
NM_000426.4(LAMA2):c.8893G>T (p.Glu2965Ter)
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.9283_9298dup (p.Pro3100fs)
NM_000426.4(LAMA2):c.94C>T (p.Gln32Ter)
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
NM_000426.4(LAMA2):c.951del (p.Cys318fs)
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter) rs1064796377
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)
NM_000540.3(RYR1):c.11608+1G>A
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12095-2A>G
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3382-1G>A
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
NM_000540.3(RYR1):c.7927-1G>T
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)
NM_000540.3(RYR1):c.9886del (p.Leu3296fs)
NM_001077365.2(POMT1):c.103dup (p.Thr35fs)
NM_001077365.2(POMT1):c.1175+1G>T
NM_001077365.2(POMT1):c.1195dup (p.Leu399fs)
NM_001077365.2(POMT1):c.122+5G>A rs376753193
NM_001077365.2(POMT1):c.1284_1285del (p.Asn428fs)
NM_001077365.2(POMT1):c.1364del (p.Lys455fs) rs1472946513
NM_001077365.2(POMT1):c.1524dup (p.Pro509fs)
NM_001077365.2(POMT1):c.1550del (p.Asn517fs)
NM_001077365.2(POMT1):c.1584+1G>T
NM_001077365.2(POMT1):c.162C>A (p.Tyr54Ter)
NM_001077365.2(POMT1):c.1654_1655dup (p.Leu553fs)
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del) rs750195040
NM_001077365.2(POMT1):c.2101del (p.Asp701fs)
NM_001077365.2(POMT1):c.229+1G>A
NM_001077365.2(POMT1):c.314G>A (p.Arg105His) rs1554772469
NM_001077365.2(POMT1):c.389del (p.His130fs)
NM_001077365.2(POMT1):c.574_575del (p.Leu192fs) rs1554773974
NM_001077365.2(POMT1):c.5G>A (p.Trp2Ter)
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.699+67dup
NM_001077365.2(POMT1):c.789_790del (p.Leu263fs)
NM_001077365.2(POMT1):c.979C>A (p.Pro327Thr) rs757984572
NM_001079802.2(FKTN):c.1044G>A (p.Lys348=)
NM_001079802.2(FKTN):c.1072C>T (p.Gln358Ter)
NM_001079802.2(FKTN):c.1132_1138del (p.Trp378fs)
NM_001079802.2(FKTN):c.1173-1G>T
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.1A>C (p.Met1Leu)
NM_001079802.2(FKTN):c.303C>A (p.Cys101Ter)
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs) rs767865405
NM_001079802.2(FKTN):c.330_335delinsGG (p.Phe110fs)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.750_751insG (p.Arg251fs)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.789del (p.Asp264fs)
NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)
NM_001128227.3(GNE):c.51+1G>A
NM_001130987.2(DYSF):c.1002+4A>G rs905322985
NM_001130987.2(DYSF):c.1110_1117dup (p.Leu373fs)
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.1150-2A>G
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1493+1G>T
NM_001130987.2(DYSF):c.1806+2T>A
NM_001130987.2(DYSF):c.1984+1G>A
NM_001130987.2(DYSF):c.2203del (p.Ile735fs)
NM_001130987.2(DYSF):c.221del (p.Glu74fs)
NM_001130987.2(DYSF):c.240-2del
NM_001130987.2(DYSF):c.2484dup (p.Ala829fs)
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg) rs750028300
NM_001130987.2(DYSF):c.3086-11_3105dup
NM_001130987.2(DYSF):c.3107dup (p.Glu1039fs)
NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)
NM_001130987.2(DYSF):c.3332_3353dup (p.Glu1120fs)
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
NM_001130987.2(DYSF):c.342del (p.Ala116fs) rs886042379
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs) rs2093220811
NM_001130987.2(DYSF):c.3620_3621del (p.Val1207fs)
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
NM_001130987.2(DYSF):c.4385dup (p.Asp1463fs)
NM_001130987.2(DYSF):c.4528-2del
NM_001130987.2(DYSF):c.460+2T>G rs750356247
NM_001130987.2(DYSF):c.4683dup (p.Asn1562Ter)
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs) rs772270346
NM_001130987.2(DYSF):c.5003+1249G>T rs886042110
NM_001130987.2(DYSF):c.5004-1G>A rs886043170
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr) rs753279446
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5317+1G>A rs773386253
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
NM_001130987.2(DYSF):c.5642+1G>A rs727503915
NM_001130987.2(DYSF):c.5785-1G>C rs751473506
NM_001130987.2(DYSF):c.5975del (p.Pro1992fs)
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter) rs1064794020
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser) rs1057521141
NM_001130987.2(DYSF):c.6321+1G>C
NM_001130987.2(DYSF):c.754_759+5del rs1433612344
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter) rs886044381
NM_001130987.2(DYSF):c.855del (p.Ile286fs)
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001164508.2(NEB):c.10545_10552del (p.Asp3516fs)
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.10916G>A (p.Trp3639Ter)
NM_001164508.2(NEB):c.11021dup (p.Thr3675fs)
NM_001164508.2(NEB):c.11474_11475dup (p.Leu3826fs)
NM_001164508.2(NEB):c.11584_11587dup (p.Asp3863delinsValTer) rs2153991555
NM_001164508.2(NEB):c.11601+2T>C
NM_001164508.2(NEB):c.1470+1G>C rs1220787593
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16705-1G>C
NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)
NM_001164508.2(NEB):c.17314_17315del (p.Asn5772fs)
NM_001164508.2(NEB):c.17411_17412del (p.Ala5804fs)
NM_001164508.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001164508.2(NEB):c.17845-2A>T rs1177405905
NM_001164508.2(NEB):c.18157-2A>C
NM_001164508.2(NEB):c.1815dup (p.Gly606fs)
NM_001164508.2(NEB):c.18372dup (p.Tyr6125fs)
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs) rs747282057
NM_001164508.2(NEB):c.18579+1G>T
NM_001164508.2(NEB):c.18694-8_18707del
NM_001164508.2(NEB):c.1871T>A (p.Leu624Ter)
NM_001164508.2(NEB):c.18892-1G>T
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter) rs2153702280
NM_001164508.2(NEB):c.19428+1dup
NM_001164508.2(NEB):c.19959del (p.Ser6654fs)
NM_001164508.2(NEB):c.20050-2A>T
NM_001164508.2(NEB):c.20088dup (p.Gly6697fs)
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)
NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)
NM_001164508.2(NEB):c.2095C>T (p.Gln699Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs) rs1559680233
NM_001164508.2(NEB):c.21313-2A>G
NM_001164508.2(NEB):c.21318del (p.Lys7106fs) rs2092318339
NM_001164508.2(NEB):c.21444dup (p.Ser7149fs)
NM_001164508.2(NEB):c.21631-2A>G
NM_001164508.2(NEB):c.2204_2205del (p.Gln734_Cys735insTer)
NM_001164508.2(NEB):c.22162-1G>C
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22641del (p.Met7547fs) rs1057515573
NM_001164508.2(NEB):c.22711A>T (p.Lys7571Ter)
NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)
NM_001164508.2(NEB):c.22905+1del rs771740564
NM_001164508.2(NEB):c.23017-12_23022delinsAT
NM_001164508.2(NEB):c.23128-1G>A
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.2329del (p.His777fs)
NM_001164508.2(NEB):c.23341dup (p.Ser7781fs)
NM_001164508.2(NEB):c.23416_23417del (p.Gln7806fs)
NM_001164508.2(NEB):c.23628_23631dup (p.Gln7878fs)
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23840dup (p.Leu7947fs)
NM_001164508.2(NEB):c.23848_23852del (p.Glu7950fs)
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24011_24014dup (p.Phe8005fs)
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24072dup (p.Glu8025fs)
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.2416-1G>C rs1553565278
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24242_24245dup (p.Leu8082fs)
NM_001164508.2(NEB):c.24272_24275dup (p.Lys8092fs)
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364del (p.Arg8121fs)
NM_001164508.2(NEB):c.24457_24460dup (p.Lys8154fs)
NM_001164508.2(NEB):c.24510del (p.Ala8172fs)
NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)
NM_001164508.2(NEB):c.24590_24591del (p.Lys8197fs)
NM_001164508.2(NEB):c.24920del (p.Pro8307fs)
NM_001164508.2(NEB):c.250_267delinsA (p.Pro84fs)
NM_001164508.2(NEB):c.25201dup (p.Ser8401fs)
NM_001164508.2(NEB):c.25277dup (p.Val8427fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.252del (p.Tyr85fs)
NM_001164508.2(NEB):c.2637+2T>G
NM_001164508.2(NEB):c.2658T>G (p.Tyr886Ter)
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3682_3686del (p.Tyr1228fs)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+1G>C
NM_001164508.2(NEB):c.3879+2T>C rs2099350888
NM_001164508.2(NEB):c.3902del (p.Tyr1301fs)
NM_001164508.2(NEB):c.3996C>G (p.Tyr1332Ter) rs1559093497
NM_001164508.2(NEB):c.403-2A>G
NM_001164508.2(NEB):c.4082del (p.Val1361fs)
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4507-1G>A rs2154185810
NM_001164508.2(NEB):c.4611+1G>A rs1233792020
NM_001164508.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001164508.2(NEB):c.4719+2T>A
NM_001164508.2(NEB):c.4897del (p.Ser1633fs)
NM_001164508.2(NEB):c.496_499del (p.Gln166fs) rs1340063197
NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)
NM_001164508.2(NEB):c.5343+5G>A rs2154175371
NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)
NM_001164508.2(NEB):c.5680_5696del (p.Arg1894fs)
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5763+1G>A rs2154172204
NM_001164508.2(NEB):c.5764-1G>A
NM_001164508.2(NEB):c.5818_5828del (p.Leu1940fs)
NM_001164508.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.613-1G>C rs767693366
NM_001164508.2(NEB):c.6405_6411del (p.Asn2136fs)
NM_001164508.2(NEB):c.6407_6410del (p.Asn2136fs)
NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)
NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)
NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)
NM_001164508.2(NEB):c.6759_6760insG (p.Thr2254fs)
NM_001164508.2(NEB):c.6916-2A>C
NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7982G>A (p.Trp2661Ter)
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8350dup (p.Ala2784fs)
NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)
NM_001164508.2(NEB):c.927+1G>C
NM_001164508.2(NEB):c.9284del (p.Val3095fs)
NM_001164508.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001164508.2(NEB):c.9410del (p.Ser3137fs)
NM_001164508.2(NEB):c.9507_9508dup (p.Ile3170fs)
NM_001164508.2(NEB):c.9580C>T (p.Gln3194Ter) rs2098659971
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter) rs2154136345
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal) rs1689265228
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs) rs770878165
NM_001267550.2(TTN):c.106049del (p.Thr35350fs) rs1250336644
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.21941del (p.Gly7314fs)
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter) rs373040154
NM_001267550.2(TTN):c.50069del (p.Lys16690fs) rs1064796139
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter) rs2056330918
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter) rs1060500503
NM_001267550.2(TTN):c.53026_53027del (p.Val17676fs)
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter) rs1131691381
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter) rs727503602
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs) rs2154184873
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
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.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.66161-1G>C rs1553627403
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.72613del (p.Val24205fs) rs1708996209
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs) rs751319893
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter) rs1707280155
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs) rs2154160971
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter) rs869312119
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter) rs1553560951
NM_001267550.2(TTN):c.86585_86589dup (p.Leu28864fs)
NM_001267550.2(TTN):c.87564_87606del (p.Ser29189fs)
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter) rs878854428
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter) rs1060500457
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.914+1G>A
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs) rs727503547
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs) rs748382770
NM_001271208.1(NEB):c.7291G>A rs767302772
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001458.5(FLNC):c.1353del (p.His451fs)
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.6494del (p.Phe2165fs)
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.211dup (p.Asp71fs)
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu) rs886041383
NM_001927.4(DES):c.322del (p.Glu108fs)
NM_001953.5(TYMP):c.1340_1361del (p.Leu447fs) rs772501604
NM_001953.5(TYMP):c.1416del (p.Phe473fs) rs1203886148
NM_001953.5(TYMP):c.1447T>C (p.Ter483Gln)
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001953.5(TYMP):c.214+2T>C
NM_001953.5(TYMP):c.215-13_215delinsGCGTGA
NM_001953.5(TYMP):c.25del (p.Thr9fs)
NM_001953.5(TYMP):c.260_266del (p.Glu87fs)
NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)
NM_001953.5(TYMP):c.418-1G>A
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.694del (p.Val232fs)
NM_001953.5(TYMP):c.765+1G>C
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) rs892141220
NM_001953.5(TYMP):c.945G>A (p.Trp315Ter) rs1052593047
NM_002495.4(NDUFS4):c.26del (p.Val9fs)
NM_002495.4(NDUFS4):c.27_32delinsCCTGC (p.Gln12fs)
NM_002495.4(NDUFS4):c.285del (p.Lys96fs)
NM_002495.4(NDUFS4):c.351-1G>A
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter)
NM_002495.4(NDUFS4):c.429G>A (p.Trp143Ter)
NM_002495.4(NDUFS4):c.448_449dup (p.Lys151fs)
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002693.3(POLG):c.1023+1G>C
NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)
NM_002693.3(POLG):c.1170+1G>C
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1552del (p.Ala518fs)
NM_002693.3(POLG):c.1575_1578del (p.Met525fs) rs1253517114
NM_002693.3(POLG):c.1663del (p.Thr555fs)
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.1949+1G>C
NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)
NM_002693.3(POLG):c.2479_2480+8del
NM_002693.3(POLG):c.2480+1G>T
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2884dup (p.Ala962fs) rs1252078081
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3104+3A>C
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3482+2T>C rs1466226819
NM_002693.3(POLG):c.3514_3517dup (p.Leu1173Ter)
NM_002693.3(POLG):c.3601del (p.Ser1201fs) rs781311846
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.814del (p.Ser272fs)
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.880_881del (p.Thr294fs)
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.637dup (p.Met213fs)
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs) rs1553541329
NM_003494.4(DYSF):c.60_61dup (p.Asp21fs)
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_004006.3(DMD):c.10509del (p.Glu3505fs)
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) rs2149350253
NM_004006.3(DMD):c.2292+1G>T
NM_004006.3(DMD):c.4846-1G>C rs1603631757
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_004006.3(DMD):c.832-1G>T
NM_004006.3(DMD):c.960+2T>G rs776457078
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1663+1G>A rs766667009
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.456+1G>A rs1579384604
NM_004168.4(SDHA):c.484del (p.Arg162fs) rs1734988578
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.762_770+17del rs1041809852
NM_004281.4(BAG3):c.1077del (p.Glu360fs)
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter) rs368234110
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter) rs1767310072
NM_004614.5(TK2):c.544del (p.Leu182fs)
NM_004614.5(TK2):c.623A>G (p.Tyr208Cys) rs1964523180
NM_005138.3(SCO2):c.210_229del (p.Leu71fs)
NM_005138.3(SCO2):c.3G>A (p.Met1Ile)
NM_005138.3(SCO2):c.401_402del (p.Pro134fs)
NM_005138.3(SCO2):c.508G>T (p.Glu170Ter)
NM_005138.3(SCO2):c.738_750dup (p.Ser251delinsGlyTer)
NM_005138.3(SCO2):c.755_758del (p.Asp252fs) rs774544201
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_005138.3(SCO2):c.800G>C (p.Ter267Ser)
NM_005476.7(GNE):c.1237G>T (p.Asp413Tyr)
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser) rs1554658910
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1593_1597del (p.Lys532fs)
NM_005476.7(GNE):c.1595dup (p.Leu534fs)
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs) rs1436850036
NM_005476.7(GNE):c.1861del (p.Ala621fs)
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.555dup (p.Tyr186fs)
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
NM_005476.7(GNE):c.856C>T (p.Gln286Ter) rs1057516746
NM_005476.7(GNE):c.917G>A (p.Arg306Gln) rs1455785164
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_006892.4(DNMT3B):c.2162T>C (p.Ile721Thr)
NM_012210.4(TRIM32):c.1012del (p.Ala338fs)
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1297_1298del (p.Val434fs)
NM_012210.4(TRIM32):c.1448_1449dup (p.Val484fs)
NM_012210.4(TRIM32):c.1481G>A (p.Trp494Ter)
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)
NM_012210.4(TRIM32):c.1824del (p.Gly607_Tyr608insTer)
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
NM_012210.4(TRIM32):c.430G>T (p.Glu144Ter)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.495del (p.Arg166fs)
NM_012210.4(TRIM32):c.577_581del (p.Arg193fs)
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs) rs2132072315
NM_012210.4(TRIM32):c.697_721dup (p.Tyr241delinsCysAlaGlyCysValSerLeuTer)
NM_012210.4(TRIM32):c.775_794del (p.Asp259fs)
NM_013382.7(POMT2):c.1006+1G>T
NM_013382.7(POMT2):c.1162A>T (p.Lys388Ter)
NM_013382.7(POMT2):c.1184-1G>C
NM_013382.7(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.7(POMT2):c.1341_1342del (p.Asp449fs)
NM_013382.7(POMT2):c.1623del (p.Leu542fs)
NM_013382.7(POMT2):c.1653+1G>T
NM_013382.7(POMT2):c.1781A>G (p.Asn594Ser)
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) rs794727228
NM_013382.7(POMT2):c.2085G>A (p.Trp695Ter)
NM_013382.7(POMT2):c.2174dup (p.Tyr725Ter)
NM_013382.7(POMT2):c.2206del (p.Gln736fs) rs774412117
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.7(POMT2):c.248+1G>A
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.333+1G>T
NM_013382.7(POMT2):c.353_354del (p.Gly118fs)
NM_013382.7(POMT2):c.672del (p.Trp225fs) rs1566656247
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013382.7(POMT2):c.816+1G>T
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) rs515726181
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.168T>A (p.Tyr56Ter)
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter)
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter) rs863224191
NM_017739.4(POMGNT1):c.1001_1002del (p.Thr334fs) rs1571659306
NM_017739.4(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.4(POMGNT1):c.1069C>T (p.Gln357Ter)
NM_017739.4(POMGNT1):c.1080del (p.Ile361fs) rs2148192392
NM_017739.4(POMGNT1):c.1284+1G>A
NM_017739.4(POMGNT1):c.1398G>A (p.Trp466Ter)
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1566dup (p.Asn523fs)
NM_017739.4(POMGNT1):c.1605-1_1605delinsCG
NM_017739.4(POMGNT1):c.1650-2A>G
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_017739.4(POMGNT1):c.1686dup (p.Glu563Ter) rs2148167494
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs) rs1057516903
NM_017739.4(POMGNT1):c.1785+1G>A rs2148166435
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser) rs886044567
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.779_780del (p.Glu260fs)
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.166C>T (p.Gln56Ter) rs1557814050
NM_020451.3(SELENON):c.224_230del (p.Leu75fs)
NM_020451.3(SELENON):c.302-1G>A
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021942.6(TRAPPC11):c.1348C>T (p.Arg450Ter)
NM_021942.6(TRAPPC11):c.1466G>A (p.Trp489Ter) rs1735877322
NM_021942.6(TRAPPC11):c.512_515del (p.Ser171fs) rs759415592
NM_021942.6(TRAPPC11):c.518_521del (p.Phe173fs) rs771717941
NM_021942.6(TRAPPC11):c.957_960dup (p.Lys321delinsValTer)
NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)
NM_024301.5(FKRP):c.1130_1139del (p.Gln377fs)
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) rs140217866
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) rs1599939853
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)
NM_024301.5(FKRP):c.2T>C (p.Met1Thr)
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg) rs2122616718
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs) rs1311148380
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) rs1555738753
NM_024301.5(FKRP):c.884_885del (p.Arg295fs)
NM_024301.5(FKRP):c.899T>A (p.Val300Glu)
NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)
NM_024301.5(FKRP):c.949del (p.Cys317fs)
NM_024301.5(FKRP):c.984del (p.Arg327_Tyr328insTer)
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
NM_025215.6(PUS1):c.1A>G (p.Met1Val)
NM_025215.6(PUS1):c.1A>T (p.Met1Leu)
NM_025215.6(PUS1):c.276T>A (p.Tyr92Ter)
NM_025215.6(PUS1):c.2T>G (p.Met1Arg)
NM_025215.6(PUS1):c.731_734dup (p.Phe245fs)
NM_025215.6(PUS1):c.989del (p.Gly330fs)
NM_031229.4(RBCK1):c.1465del (p.Thr489fs) rs2122348874
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_078470.6(COX15):c.1039del (p.Ile347fs)
NM_078470.6(COX15):c.319G>T (p.Glu107Ter)
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
NM_078470.6(COX15):c.686C>A (p.Ser229Ter)
NM_078470.6(COX15):c.717G>A (p.Trp239Ter)
NM_078470.6(COX15):c.750+1G>A
NM_078470.6(COX15):c.750+1G>T
NM_078470.6(COX15):c.751-2A>T
NM_078470.6(COX15):c.755del (p.Pro252fs)
NM_080916.3(DGUOK):c.14_15del (p.Arg5fs)
NM_080916.3(DGUOK):c.444-62C>A rs528587600
NM_080916.3(DGUOK):c.592-4_592-3del
NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) rs763706988
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.822del (p.Arg275fs) rs2102883169
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1457del (p.Pro486fs) rs1577184455
NM_173660.5(DOK7):c.149del (p.Gly50fs)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.653-1G>C rs1449351306
NM_173660.5(DOK7):c.886C>T (p.Gln296Ter)
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_213599.3(ANO5):c.2004del (p.Leu669fs) rs886043172
NM_213599.3(ANO5):c.2290_2293dup (p.Tyr765fs)
NM_213599.3(ANO5):c.648+5G>C rs752512585
NM_213599.3(ANO5):c.846T>G (p.Tyr282Ter)

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