ClinVar Miner

List of variants in gene SCN11A reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 701
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.268-3C>T rs200598776 0.00037
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_001349253.2(SCN11A):c.4973G>A (p.Arg1658His) rs141457896 0.00027
NM_001349253.2(SCN11A):c.5233C>T (p.Arg1745Ter) rs747783198 0.00024
NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu) rs374524879 0.00023
NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys) rs539550341 0.00022
NM_001349253.2(SCN11A):c.3814-3C>T rs373458111 0.00019
NM_001349253.2(SCN11A):c.2513G>A (p.Arg838Gln) rs149681198 0.00016
NM_001349253.2(SCN11A):c.1499G>A (p.Arg500Gln) rs373827019 0.00014
NM_001349253.2(SCN11A):c.4414C>T (p.Arg1472Ter) rs371178341 0.00014
NM_001349253.2(SCN11A):c.1599G>A (p.Met533Ile) rs769224387 0.00013
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) rs201336927 0.00012
NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu) rs199522402 0.00012
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys) rs146942592 0.00012
NM_001349253.2(SCN11A):c.1223A>G (p.Lys408Arg) rs149399418 0.00011
NM_001349253.2(SCN11A):c.1744G>A (p.Ala582Thr) rs141228634 0.00011
NM_001349253.2(SCN11A):c.4309G>A (p.Val1437Met) rs149699837 0.00010
NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg) rs145734191 0.00009
NM_001349253.2(SCN11A):c.2288G>A (p.Arg763His) rs372078622 0.00009
NM_001349253.2(SCN11A):c.3439C>T (p.Arg1147Trp) rs754609828 0.00009
NM_001349253.2(SCN11A):c.4049G>A (p.Arg1350Gln) rs375444880 0.00009
NM_001349253.2(SCN11A):c.4879T>C (p.Tyr1627His) rs114854233 0.00009
NM_001349253.2(SCN11A):c.2638A>T (p.Ile880Phe) rs570439209 0.00008
NM_001349253.2(SCN11A):c.2381T>C (p.Ile794Thr) rs147636808 0.00007
NM_001349253.2(SCN11A):c.923C>T (p.Pro308Leu) rs751477540 0.00007
NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val) rs200800847 0.00006
NM_001349253.2(SCN11A):c.2519G>A (p.Arg840His) rs373145656 0.00006
NM_001349253.2(SCN11A):c.2521C>T (p.Arg841Trp) rs184088468 0.00006
NM_001349253.2(SCN11A):c.2641A>G (p.Ile881Val) rs376275036 0.00006
NM_001349253.2(SCN11A):c.2945G>A (p.Arg982Gln) rs562379429 0.00006
NM_001349253.2(SCN11A):c.7G>C (p.Asp3His) rs373639733 0.00006
NM_001349253.2(SCN11A):c.1220A>G (p.Asn407Ser) rs375513048 0.00005
NM_001349253.2(SCN11A):c.1913G>A (p.Arg638His) rs745884793 0.00005
NM_001349253.2(SCN11A):c.2661G>A (p.Met887Ile) rs570749658 0.00005
NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter) rs41285132 0.00005
NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp) rs199777850 0.00005
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val) rs757066072 0.00004
NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr) rs144473860 0.00004
NM_001349253.2(SCN11A):c.2384C>T (p.Thr795Met) rs767279633 0.00004
NM_001349253.2(SCN11A):c.2530T>C (p.Cys844Arg) rs201598026 0.00004
NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly) rs373403886 0.00004
NM_001349253.2(SCN11A):c.3136C>T (p.Arg1046Trp) rs776182932 0.00004
NM_001349253.2(SCN11A):c.3137G>A (p.Arg1046Gln) rs147061364 0.00004
NM_001349253.2(SCN11A):c.331A>G (p.Ile111Val) rs1303641495 0.00004
NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp) rs755416318 0.00004
NM_001349253.2(SCN11A):c.3911T>C (p.Ile1304Thr) rs376861071 0.00004
NM_001349253.2(SCN11A):c.489G>A (p.Glu163=) rs774022892 0.00004
NM_001349253.2(SCN11A):c.5108T>A (p.Met1703Lys) rs377712618 0.00004
NM_001349253.2(SCN11A):c.5215A>G (p.Ile1739Val) rs759827115 0.00004
NM_001349253.2(SCN11A):c.881C>T (p.Pro294Leu) rs759807932 0.00004
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln) rs1380372157 0.00003
NM_001349253.2(SCN11A):c.1480C>T (p.Leu494Phe) rs770239361 0.00003
NM_001349253.2(SCN11A):c.2319G>A (p.Met773Ile) rs1370117026 0.00003
NM_001349253.2(SCN11A):c.239A>T (p.Asp80Val) rs770603605 0.00003
NM_001349253.2(SCN11A):c.2518C>T (p.Arg840Cys) rs754864849 0.00003
NM_001349253.2(SCN11A):c.2546C>G (p.Thr849Ser) rs772310170 0.00003
NM_001349253.2(SCN11A):c.2759C>T (p.Ala920Val) rs759694252 0.00003
NM_001349253.2(SCN11A):c.3085T>C (p.Cys1029Arg) rs373315455 0.00003
NM_001349253.2(SCN11A):c.3449G>T (p.Arg1150Leu) rs951508265 0.00003
NM_001349253.2(SCN11A):c.3814-2A>G rs778934870 0.00003
NM_001349253.2(SCN11A):c.3840C>A (p.Ser1280Arg) rs144377677 0.00003
NM_001349253.2(SCN11A):c.3850G>A (p.Gly1284Ser) rs767982270 0.00003
NM_001349253.2(SCN11A):c.3916G>A (p.Val1306Ile) rs763336682 0.00003
NM_001349253.2(SCN11A):c.4006A>G (p.Met1336Val) rs747378384 0.00003
NM_001349253.2(SCN11A):c.4607C>T (p.Thr1536Ile) rs766122411 0.00003
NM_001349253.2(SCN11A):c.4685G>A (p.Arg1562Gln) rs771220857 0.00003
NM_001349253.2(SCN11A):c.470A>T (p.Asn157Ile) rs145680426 0.00003
NM_001349253.2(SCN11A):c.4867T>C (p.Phe1623Leu) rs748282698 0.00003
NM_001349253.2(SCN11A):c.5035C>T (p.Arg1679Cys) rs143537709 0.00003
NM_001349253.2(SCN11A):c.5051A>T (p.Asp1684Val) rs370826330 0.00003
NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val) rs79184444 0.00003
NM_001349253.2(SCN11A):c.5234G>A (p.Arg1745Gln) rs762191660 0.00003
NM_001349253.2(SCN11A):c.887C>T (p.Ala296Val) rs146560458 0.00003
NM_001349253.2(SCN11A):c.89G>A (p.Arg30Gln) rs775942010 0.00003
NM_001349253.2(SCN11A):c.1201A>G (p.Met401Val) rs201229760 0.00002
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) rs1050521607 0.00002
NM_001349253.2(SCN11A):c.180G>T (p.Arg60Ser) rs149547996 0.00002
NM_001349253.2(SCN11A):c.1904A>G (p.His635Arg) rs1434002501 0.00002
NM_001349253.2(SCN11A):c.19C>G (p.Pro7Ala) rs372831672 0.00002
NM_001349253.2(SCN11A):c.2093T>C (p.Val698Ala) rs747911047 0.00002
NM_001349253.2(SCN11A):c.2143T>G (p.Phe715Val) rs754184860 0.00002
NM_001349253.2(SCN11A):c.2311G>A (p.Glu771Lys) rs770463034 0.00002
NM_001349253.2(SCN11A):c.240C>G (p.Asp80Glu) rs749020471 0.00002
NM_001349253.2(SCN11A):c.2419A>G (p.Ile807Val) rs1055160429 0.00002
NM_001349253.2(SCN11A):c.2522G>A (p.Arg841Gln) rs779067124 0.00002
NM_001349253.2(SCN11A):c.2531G>A (p.Cys844Tyr) rs753346948 0.00002
NM_001349253.2(SCN11A):c.2618G>A (p.Cys873Tyr) rs750182649 0.00002
NM_001349253.2(SCN11A):c.2669G>A (p.Gly890Asp) rs769754010 0.00002
NM_001349253.2(SCN11A):c.2932A>G (p.Ile978Val) rs1402451637 0.00002
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter) rs145290679 0.00002
NM_001349253.2(SCN11A):c.3083C>T (p.Pro1028Leu) rs146367296 0.00002
NM_001349253.2(SCN11A):c.3466C>T (p.Arg1156Cys) rs571721216 0.00002
NM_001349253.2(SCN11A):c.3495+5A>C rs748710219 0.00002
NM_001349253.2(SCN11A):c.3877A>G (p.Ile1293Val) rs761590329 0.00002
NM_001349253.2(SCN11A):c.4048C>T (p.Arg1350Trp) rs753378397 0.00002
NM_001349253.2(SCN11A):c.4075G>A (p.Val1359Met) rs777323474 0.00002
NM_001349253.2(SCN11A):c.415G>A (p.Val139Ile) rs545360453 0.00002
NM_001349253.2(SCN11A):c.4328G>T (p.Ser1443Ile) rs1276486872 0.00002
NM_001349253.2(SCN11A):c.4478C>T (p.Ser1493Leu) rs374311646 0.00002
NM_001349253.2(SCN11A):c.4486T>C (p.Ser1496Pro) rs767180182 0.00002
NM_001349253.2(SCN11A):c.481A>G (p.Ile161Val) rs1398192783 0.00002
NM_001349253.2(SCN11A):c.5107A>G (p.Met1703Val) rs146245811 0.00002
NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg) rs773726638 0.00002
NM_001349253.2(SCN11A):c.742C>T (p.Arg248Cys) rs764550088 0.00002
NM_001349253.2(SCN11A):c.1019C>T (p.Thr340Met) rs776207910 0.00001
NM_001349253.2(SCN11A):c.1101+6C>G rs773392447 0.00001
NM_001349253.2(SCN11A):c.1108C>T (p.Arg370Cys) rs368754860 0.00001
NM_001349253.2(SCN11A):c.1120C>T (p.Leu374Phe) rs1434945788 0.00001
NM_001349253.2(SCN11A):c.1134C>A (p.Phe378Leu) rs762078605 0.00001
NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) rs606231280 0.00001
NM_001349253.2(SCN11A):c.1249A>G (p.Lys417Glu) rs751104165 0.00001
NM_001349253.2(SCN11A):c.1330T>C (p.Ser444Pro) rs1553639316 0.00001
NM_001349253.2(SCN11A):c.1385G>A (p.Gly462Asp) rs1229916082 0.00001
NM_001349253.2(SCN11A):c.1389T>A (p.Asn463Lys) rs745401683 0.00001
NM_001349253.2(SCN11A):c.1403C>A (p.Ser468Tyr) rs757798778 0.00001
NM_001349253.2(SCN11A):c.1421C>G (p.Ser474Cys) rs576179462 0.00001
NM_001349253.2(SCN11A):c.1423G>T (p.Gly475Trp) rs373799320 0.00001
NM_001349253.2(SCN11A):c.1525C>T (p.His509Tyr) rs765328639 0.00001
NM_001349253.2(SCN11A):c.1532A>T (p.Asp511Val) rs895386347 0.00001
NM_001349253.2(SCN11A):c.1560G>T (p.Gln520His) rs774075554 0.00001
NM_001349253.2(SCN11A):c.1576G>C (p.Val526Leu) rs201958340 0.00001
NM_001349253.2(SCN11A):c.1685A>G (p.Gln562Arg) rs764962415 0.00001
NM_001349253.2(SCN11A):c.1787T>C (p.Met596Thr) rs758216987 0.00001
NM_001349253.2(SCN11A):c.1842G>A (p.Leu614=) rs1368701003 0.00001
NM_001349253.2(SCN11A):c.1865C>T (p.Ala622Val) rs766907203 0.00001
NM_001349253.2(SCN11A):c.1889C>T (p.Ala630Val) rs763315846 0.00001
NM_001349253.2(SCN11A):c.1915C>T (p.Arg639Ter) rs770933380 0.00001
NM_001349253.2(SCN11A):c.1934A>G (p.Asp645Gly) rs988402656 0.00001
NM_001349253.2(SCN11A):c.1942G>A (p.Val648Ile) rs377765909 0.00001
NM_001349253.2(SCN11A):c.1971G>C (p.Met657Ile) rs1559518186 0.00001
NM_001349253.2(SCN11A):c.2083G>A (p.Gly695Ser) rs553388188 0.00001
NM_001349253.2(SCN11A):c.2109C>G (p.Ser703Arg) rs746649203 0.00001
NM_001349253.2(SCN11A):c.2174G>A (p.Arg725His) rs752954989 0.00001
NM_001349253.2(SCN11A):c.2177G>A (p.Ser726Asn) rs759697563 0.00001
NM_001349253.2(SCN11A):c.2186C>T (p.Ser729Phe) rs1469862475 0.00001
NM_001349253.2(SCN11A):c.2222C>T (p.Pro741Leu) rs369499148 0.00001
NM_001349253.2(SCN11A):c.2287C>T (p.Arg763Cys) rs537371340 0.00001
NM_001349253.2(SCN11A):c.2299G>A (p.Gly767Arg) rs9816941 0.00001
NM_001349253.2(SCN11A):c.2307G>A (p.Trp769Ter) rs1553637480 0.00001
NM_001349253.2(SCN11A):c.2337A>C (p.Glu779Asp) rs748549694 0.00001
NM_001349253.2(SCN11A):c.233T>C (p.Leu78Pro) rs1191209828 0.00001
NM_001349253.2(SCN11A):c.2344G>A (p.Ala782Thr) rs1434033397 0.00001
NM_001349253.2(SCN11A):c.2355_2357del (p.Leu786del) rs753609258 0.00001
NM_001349253.2(SCN11A):c.2413C>T (p.Leu805Phe) rs762472453 0.00001
NM_001349253.2(SCN11A):c.2474G>A (p.Gly825Glu) rs1192118831 0.00001
NM_001349253.2(SCN11A):c.2666G>C (p.Arg889Thr) rs566379034 0.00001
NM_001349253.2(SCN11A):c.2693G>A (p.Gly898Asp) rs1301732976 0.00001
NM_001349253.2(SCN11A):c.2745G>C (p.Trp915Cys) rs766711573 0.00001
NM_001349253.2(SCN11A):c.2774A>G (p.Asp925Gly) rs372745114 0.00001
NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile) rs759255427 0.00001
NM_001349253.2(SCN11A):c.2804A>C (p.Gln935Pro) rs374516577 0.00001
NM_001349253.2(SCN11A):c.281T>C (p.Leu94Ser) rs970238537 0.00001
NM_001349253.2(SCN11A):c.2870C>T (p.Thr957Met) rs752776956 0.00001
NM_001349253.2(SCN11A):c.2938G>A (p.Asp980Asn) rs1403716541 0.00001
NM_001349253.2(SCN11A):c.3010G>A (p.Gly1004Arg) rs757316631 0.00001
NM_001349253.2(SCN11A):c.3043C>T (p.Pro1015Ser) rs1449575299 0.00001
NM_001349253.2(SCN11A):c.323C>G (p.Ala108Gly) rs571192669 0.00001
NM_001349253.2(SCN11A):c.3309G>A (p.Leu1103=) rs2065282402 0.00001
NM_001349253.2(SCN11A):c.3337G>A (p.Gly1113Arg) rs1445569526 0.00001
NM_001349253.2(SCN11A):c.3382A>T (p.Ile1128Phe) rs1039653910 0.00001
NM_001349253.2(SCN11A):c.3386T>C (p.Ile1129Thr) rs2065280606 0.00001
NM_001349253.2(SCN11A):c.3391_3393+7del rs757147946 0.00001
NM_001349253.2(SCN11A):c.3393+1G>T rs768826766 0.00001
NM_001349253.2(SCN11A):c.3407C>A (p.Thr1136Asn) rs779400140 0.00001
NM_001349253.2(SCN11A):c.340C>T (p.Pro114Ser) rs879403445 0.00001
NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val) rs778367426 0.00001
NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln) rs533830451 0.00001
NM_001349253.2(SCN11A):c.3448C>T (p.Arg1150Ter) rs762833274 0.00001
NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly) rs770327954 0.00001
NM_001349253.2(SCN11A):c.36T>A (p.Asp12Glu) rs1385002411 0.00001
NM_001349253.2(SCN11A):c.374T>C (p.Val125Ala) rs202128784 0.00001
NM_001349253.2(SCN11A):c.3761C>A (p.Ala1254Glu) rs377462369 0.00001
NM_001349253.2(SCN11A):c.3788T>C (p.Ile1263Thr) rs781009540 0.00001
NM_001349253.2(SCN11A):c.3790T>C (p.Tyr1264His) rs2065111859 0.00001
NM_001349253.2(SCN11A):c.3908_3909insA (p.Phe1303fs) rs762160601 0.00001
NM_001349253.2(SCN11A):c.4031C>A (p.Pro1344His) rs1295263360 0.00001
NM_001349253.2(SCN11A):c.4113del (p.Ile1372fs) rs1425003912 0.00001
NM_001349253.2(SCN11A):c.4143T>G (p.Ile1381Met) rs1183602308 0.00001
NM_001349253.2(SCN11A):c.4178C>A (p.Ala1393Asp) rs1559485324 0.00001
NM_001349253.2(SCN11A):c.4261A>T (p.Arg1421Trp) rs1224338798 0.00001
NM_001349253.2(SCN11A):c.429C>T (p.Cys143=) rs1429601834 0.00001
NM_001349253.2(SCN11A):c.4301G>T (p.Cys1434Phe) rs765274047 0.00001
NM_001349253.2(SCN11A):c.4327+2T>G rs1271092061 0.00001
NM_001349253.2(SCN11A):c.4327+5G>A rs924689834 0.00001
NM_001349253.2(SCN11A):c.4406G>A (p.Arg1469Gln) rs1403499986 0.00001
NM_001349253.2(SCN11A):c.4415G>A (p.Arg1472Gln) rs1343553308 0.00001
NM_001349253.2(SCN11A):c.4441C>T (p.Arg1481Ter) rs150141467 0.00001
NM_001349253.2(SCN11A):c.4499T>G (p.Ile1500Ser) rs1460417708 0.00001
NM_001349253.2(SCN11A):c.4555T>C (p.Phe1519Leu) rs779114496 0.00001
NM_001349253.2(SCN11A):c.465C>A (p.Asn155Lys) rs895473949 0.00001
NM_001349253.2(SCN11A):c.4848C>A (p.Asp1616Glu) rs772508848 0.00001
NM_001349253.2(SCN11A):c.4909G>A (p.Ala1637Thr) rs1388718478 0.00001
NM_001349253.2(SCN11A):c.4933G>A (p.Ala1645Thr) rs2064683504 0.00001
NM_001349253.2(SCN11A):c.4978G>A (p.Ala1660Thr) rs564668486 0.00001
NM_001349253.2(SCN11A):c.5015T>C (p.Leu1672Ser) rs773317280 0.00001
NM_001349253.2(SCN11A):c.5036G>A (p.Arg1679His) rs769083302 0.00001
NM_001349253.2(SCN11A):c.5083G>A (p.Gly1695Ser) rs1413143057 0.00001
NM_001349253.2(SCN11A):c.5114C>A (p.Ala1705Glu) rs1409670951 0.00001
NM_001349253.2(SCN11A):c.5116A>G (p.Met1706Val) rs770365703 0.00001
NM_001349253.2(SCN11A):c.5147C>G (p.Pro1716Arg) rs751455677 0.00001
NM_001349253.2(SCN11A):c.5206G>A (p.Gly1736Ser) rs752885762 0.00001
NM_001349253.2(SCN11A):c.5232T>G (p.Phe1744Leu) rs137933912 0.00001
NM_001349253.2(SCN11A):c.5242A>G (p.Met1748Val) rs780051659 0.00001
NM_001349253.2(SCN11A):c.5306C>T (p.Pro1769Leu) rs751901471 0.00001
NM_001349253.2(SCN11A):c.5368T>C (p.Cys1790Arg) rs779955918 0.00001
NM_001349253.2(SCN11A):c.575G>A (p.Arg192Gln) rs554286806 0.00001
NM_001349253.2(SCN11A):c.607A>T (p.Ile203Phe) rs752554589 0.00001
NM_001349253.2(SCN11A):c.617+1G>A rs754708932 0.00001
NM_001349253.2(SCN11A):c.617C>T (p.Ala206Val) rs373405212 0.00001
NM_001349253.2(SCN11A):c.620T>C (p.Ile207Thr) rs369521245 0.00001
NM_001349253.2(SCN11A):c.648C>G (p.Ile216Met) rs1189932072 0.00001
NM_001349253.2(SCN11A):c.703G>A (p.Val235Ile) rs770885330 0.00001
NM_001349253.2(SCN11A):c.713-2A>G rs779935698 0.00001
NM_001349253.2(SCN11A):c.743G>A (p.Arg248His) rs777219461 0.00001
NM_001349253.2(SCN11A):c.869A>C (p.Asn290Thr) rs1422223456 0.00001
NM_001349253.2(SCN11A):c.88C>T (p.Arg30Trp) rs761199291 0.00001
NM_001349253.2(SCN11A):c.941G>T (p.Gly314Val) rs201513140 0.00001
NM_001349253.2(SCN11A):c.959+5G>A rs373324936 0.00001
NM_001349253.2(SCN11A):c.998T>G (p.Ile333Ser) rs772157846 0.00001
NC_000003.11:g.(?_38924714)_(38927739_?)del
NC_000003.11:g.(?_38949420)_(38968442_?)del
NC_000003.12:g.(?_38925395)_(38925529_?)del
NM_001349253.2(SCN11A):c.1001A>C (p.Asn334Thr) rs2065866460
NM_001349253.2(SCN11A):c.1010A>G (p.Tyr337Cys)
NM_001349253.2(SCN11A):c.1020G>A (p.Thr340=) rs267599814
NM_001349253.2(SCN11A):c.1025_1047dup (p.Ala351fs)
NM_001349253.2(SCN11A):c.1027G>C (p.Asp343His)
NM_001349253.2(SCN11A):c.1043C>T (p.Ser348Phe) rs2065865419
NM_001349253.2(SCN11A):c.1043_1045dup (p.Ser348dup) rs1364760343
NM_001349253.2(SCN11A):c.1060C>T (p.Arg354Trp)
NM_001349253.2(SCN11A):c.1078T>C (p.Ser360Pro) rs1190161081
NM_001349253.2(SCN11A):c.1090del (p.Leu364fs) rs2125538113
NM_001349253.2(SCN11A):c.1100A>G (p.Gln367Arg) rs2125538091
NM_001349253.2(SCN11A):c.1101+1G>A
NM_001349253.2(SCN11A):c.1108C>G (p.Arg370Gly)
NM_001349253.2(SCN11A):c.1121T>C (p.Leu374Pro) rs2125537190
NM_001349253.2(SCN11A):c.1132TTC[2] (p.Phe380del) rs771345700
NM_001349253.2(SCN11A):c.1141A>T (p.Ile381Phe) rs2125537150
NM_001349253.2(SCN11A):c.1192GTT[1] (p.Val399del) rs749659844
NM_001349253.2(SCN11A):c.1195G>T (p.Val399Phe)
NM_001349253.2(SCN11A):c.119C>G (p.Ser40Cys) rs1224321638
NM_001349253.2(SCN11A):c.119C>T (p.Ser40Phe)
NM_001349253.2(SCN11A):c.11G>C (p.Arg4Thr)
NM_001349253.2(SCN11A):c.1211A>G (p.Glu404Gly)
NM_001349253.2(SCN11A):c.121A>G (p.Lys41Glu) rs1305437844
NM_001349253.2(SCN11A):c.1256del (p.Lys419fs) rs2125536994
NM_001349253.2(SCN11A):c.1260G>T (p.Met420Ile)
NM_001349253.2(SCN11A):c.1265A>G (p.Gln422Arg)
NM_001349253.2(SCN11A):c.1273C>T (p.Gln425Ter)
NM_001349253.2(SCN11A):c.1294A>G (p.Lys432Glu) rs1553639439
NM_001349253.2(SCN11A):c.1300-8A>G
NM_001349253.2(SCN11A):c.1309G>C (p.Ala437Pro) rs1355911586
NM_001349253.2(SCN11A):c.1333C>A (p.Leu445Ile) rs767707818
NM_001349253.2(SCN11A):c.1343T>G (p.Leu448Arg)
NM_001349253.2(SCN11A):c.134G>A (p.Gly45Glu)
NM_001349253.2(SCN11A):c.134_136del (p.Gly45del) rs768121531
NM_001349253.2(SCN11A):c.1370dup (p.Arg458fs) rs1483842671
NM_001349253.2(SCN11A):c.137A>G (p.Glu46Gly)
NM_001349253.2(SCN11A):c.1433A>G (p.Gln478Arg)
NM_001349253.2(SCN11A):c.1435C>G (p.Pro479Ala)
NM_001349253.2(SCN11A):c.143C>T (p.Pro48Leu)
NM_001349253.2(SCN11A):c.1465C>T (p.Gln489Ter) rs2125535869
NM_001349253.2(SCN11A):c.1466A>G (p.Gln489Arg) rs768568889
NM_001349253.2(SCN11A):c.1473+6T>C
NM_001349253.2(SCN11A):c.1477C>G (p.Gln493Glu)
NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer) rs763788482
NM_001349253.2(SCN11A):c.1495A>C (p.Lys499Gln) rs1553638821
NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter) rs367770852
NM_001349253.2(SCN11A):c.151C>T (p.Arg51Trp)
NM_001349253.2(SCN11A):c.1536G>T (p.Glu512Asp)
NM_001349253.2(SCN11A):c.1546C>A (p.Pro516Thr)
NM_001349253.2(SCN11A):c.1588A>G (p.Thr530Ala) rs1553638793
NM_001349253.2(SCN11A):c.1591A>G (p.Ile531Val) rs1553638792
NM_001349253.2(SCN11A):c.1602G>T (p.Lys534Asn) rs1575273371
NM_001349253.2(SCN11A):c.1603G>C (p.Glu535Gln)
NM_001349253.2(SCN11A):c.1604-17C>A
NM_001349253.2(SCN11A):c.1604-1G>A rs2126124857
NM_001349253.2(SCN11A):c.1612A>G (p.Lys538Glu) rs1553638694
NM_001349253.2(SCN11A):c.161T>C (p.Leu54Pro)
NM_001349253.2(SCN11A):c.1621G>A (p.Glu541Lys) rs1553638689
NM_001349253.2(SCN11A):c.1625C>T (p.Pro542Leu) rs2065750970
NM_001349253.2(SCN11A):c.1638_1639inv (p.Gly547Arg)
NM_001349253.2(SCN11A):c.1654T>A (p.Ser552Thr) rs1559521113
NM_001349253.2(SCN11A):c.1666G>A (p.Val556Met) rs200175925
NM_001349253.2(SCN11A):c.1666G>C (p.Val556Leu) rs200175925
NM_001349253.2(SCN11A):c.1686G>C (p.Gln562His)
NM_001349253.2(SCN11A):c.1699AAG[1] (p.Lys568del) rs2126124656
NM_001349253.2(SCN11A):c.1710del (p.Arg571fs) rs2065747731
NM_001349253.2(SCN11A):c.1729C>T (p.Pro577Ser) rs1174559334
NM_001349253.2(SCN11A):c.172G>C (p.Ala58Pro) rs1553644519
NM_001349253.2(SCN11A):c.173C>A (p.Ala58Asp) rs766612002
NM_001349253.2(SCN11A):c.1745C>A (p.Ala582Asp)
NM_001349253.2(SCN11A):c.1751C>G (p.Thr584Ser) rs2065746319
NM_001349253.2(SCN11A):c.1779C>A (p.Phe593Leu) rs1559520838
NM_001349253.2(SCN11A):c.1786A>T (p.Met596Leu)
NM_001349253.2(SCN11A):c.1820A>G (p.Lys607Arg) rs2065744030
NM_001349253.2(SCN11A):c.1824G>A (p.Met608Ile)
NM_001349253.2(SCN11A):c.1861A>T (p.Ile621Leu)
NM_001349253.2(SCN11A):c.188C>T (p.Pro63Leu)
NM_001349253.2(SCN11A):c.1894G>T (p.Asp632Tyr)
NM_001349253.2(SCN11A):c.1909T>G (p.Phe637Val)
NM_001349253.2(SCN11A):c.1912C>T (p.Arg638Cys)
NM_001349253.2(SCN11A):c.1913G>T (p.Arg638Leu) rs745884793
NM_001349253.2(SCN11A):c.1919G>A (p.Gly640Asp)
NM_001349253.2(SCN11A):c.1929T>G (p.Ile643Met) rs2065670726
NM_001349253.2(SCN11A):c.192G>C (p.Lys64Asn)
NM_001349253.2(SCN11A):c.1932del (p.Phe644fs)
NM_001349253.2(SCN11A):c.1964A>T (p.Asp655Val) rs1575266312
NM_001349253.2(SCN11A):c.1967T>C (p.Val656Ala) rs2126120947
NM_001349253.2(SCN11A):c.1975T>C (p.Cys659Arg)
NM_001349253.2(SCN11A):c.1985A>G (p.Gln662Arg)
NM_001349253.2(SCN11A):c.1987A>G (p.Lys663Glu) rs2065669248
NM_001349253.2(SCN11A):c.2008C>G (p.Arg670Gly) rs760681852
NM_001349253.2(SCN11A):c.2062A>C (p.Asn688His)
NM_001349253.2(SCN11A):c.2085C>T (p.Gly695=) rs1033558330
NM_001349253.2(SCN11A):c.211C>T (p.Arg71Cys)
NM_001349253.2(SCN11A):c.212G>A (p.Arg71His)
NM_001349253.2(SCN11A):c.2158A>T (p.Met720Leu) rs2065615099
NM_001349253.2(SCN11A):c.2164C>G (p.Leu722Val)
NM_001349253.2(SCN11A):c.2173C>T (p.Arg725Cys) rs375202996
NM_001349253.2(SCN11A):c.2173del (p.Arg725fs) rs1559515922
NM_001349253.2(SCN11A):c.2183A>T (p.Asn728Ile)
NM_001349253.2(SCN11A):c.2216C>G (p.Thr739Arg)
NM_001349253.2(SCN11A):c.2230del (p.Ser744fs) rs1559515746
NM_001349253.2(SCN11A):c.2240G>A (p.Arg747Gln)
NM_001349253.2(SCN11A):c.2282T>A (p.Val761Glu) rs766457059
NM_001349253.2(SCN11A):c.2312_2313insTGG (p.Glu771delinsAspGly)
NM_001349253.2(SCN11A):c.2314A>T (p.Asn772Tyr)
NM_001349253.2(SCN11A):c.2318T>C (p.Met773Thr) rs1198350999
NM_001349253.2(SCN11A):c.2323G>A (p.Glu775Lys) rs773777175
NM_001349253.2(SCN11A):c.2329A>G (p.Met777Val) rs1434713581
NM_001349253.2(SCN11A):c.232C>G (p.Leu78Val)
NM_001349253.2(SCN11A):c.2344G>C (p.Ala782Pro) rs1434033397
NM_001349253.2(SCN11A):c.2345CAT[3] (p.Ser785del) rs757197374
NM_001349253.2(SCN11A):c.2351C>G (p.Ser784Ter) rs999399367
NM_001349253.2(SCN11A):c.2357T>C (p.Leu786Ser)
NM_001349253.2(SCN11A):c.2365A>G (p.Ile789Val) rs200450233
NM_001349253.2(SCN11A):c.2395A>G (p.Lys799Glu) rs914965285
NM_001349253.2(SCN11A):c.2403+6T>C
NM_001349253.2(SCN11A):c.2404-20G>T
NM_001349253.2(SCN11A):c.2409C>A (p.Leu803=)
NM_001349253.2(SCN11A):c.2416_2418del (p.Phe806del) rs761708451
NM_001349253.2(SCN11A):c.2434A>T (p.Asn812Tyr)
NM_001349253.2(SCN11A):c.2435A>G (p.Asn812Ser) rs2126116477
NM_001349253.2(SCN11A):c.2455A>G (p.Arg819Gly) rs1553637085
NM_001349253.2(SCN11A):c.2459A>G (p.Asn820Ser)
NM_001349253.2(SCN11A):c.2463A>T (p.Gly821=)
NM_001349253.2(SCN11A):c.2479G>T (p.Ala827Ser)
NM_001349253.2(SCN11A):c.247C>A (p.Pro83Thr)
NM_001349253.2(SCN11A):c.2480C>T (p.Ala827Val) rs779022777
NM_001349253.2(SCN11A):c.2485A>G (p.Lys829Glu) rs375069340
NM_001349253.2(SCN11A):c.2503G>T (p.Ala835Ser)
NM_001349253.2(SCN11A):c.2545A>G (p.Thr849Ala) rs962404776
NM_001349253.2(SCN11A):c.256C>G (p.Arg86Gly)
NM_001349253.2(SCN11A):c.257G>A (p.Arg86Gln) rs1213171012
NM_001349253.2(SCN11A):c.2590C>A (p.Pro864Thr)
NM_001349253.2(SCN11A):c.2590C>T (p.Pro864Ser) rs749395356
NM_001349253.2(SCN11A):c.2596C>T (p.Gln866Ter) rs768683402
NM_001349253.2(SCN11A):c.261T>A (p.Asn87Lys) rs1575328552
NM_001349253.2(SCN11A):c.2644C>T (p.Pro882Ser) rs2065563045
NM_001349253.2(SCN11A):c.264T>G (p.His88Gln) rs780622265
NM_001349253.2(SCN11A):c.2654T>C (p.Met885Thr) rs1559513522
NM_001349253.2(SCN11A):c.2655G>A (p.Met885Ile) rs2065562446
NM_001349253.2(SCN11A):c.2660T>A (p.Met887Lys) rs191848890
NM_001349253.2(SCN11A):c.2671T>C (p.Ser891Pro)
NM_001349253.2(SCN11A):c.2705C>A (p.Ser902Tyr) rs778817718
NM_001349253.2(SCN11A):c.2705C>T (p.Ser902Phe)
NM_001349253.2(SCN11A):c.2710_2719del (p.Pro904fs)
NM_001349253.2(SCN11A):c.2713_2719dup (p.Leu907fs) rs2065559571
NM_001349253.2(SCN11A):c.2725G>T (p.Val909Phe) rs33985936
NM_001349253.2(SCN11A):c.2734G>A (p.Asp912Asn) rs2065558634
NM_001349253.2(SCN11A):c.2744G>T (p.Trp915Leu) rs1553636827
NM_001349253.2(SCN11A):c.2747T>C (p.Leu916Ser)
NM_001349253.2(SCN11A):c.274A>G (p.Met92Val)
NM_001349253.2(SCN11A):c.2759C>G (p.Ala920Gly)
NM_001349253.2(SCN11A):c.276G>T (p.Met92Ile) rs1378126936
NM_001349253.2(SCN11A):c.2795A>G (p.Asp932Gly)
NM_001349253.2(SCN11A):c.2807G>A (p.Arg936His)
NM_001349253.2(SCN11A):c.2835+3A>G
NM_001349253.2(SCN11A):c.2836G>A (p.Ala946Thr) rs905431246
NM_001349253.2(SCN11A):c.2840A>G (p.Tyr947Cys)
NM_001349253.2(SCN11A):c.2859C>A (p.Asn953Lys) rs946867669
NM_001349253.2(SCN11A):c.2866C>T (p.Pro956Ser)
NM_001349253.2(SCN11A):c.2897T>C (p.Ile966Thr) rs761443584
NM_001349253.2(SCN11A):c.2902A>G (p.Met968Val) rs893929045
NM_001349253.2(SCN11A):c.2908T>G (p.Ser970Ala)
NM_001349253.2(SCN11A):c.2912A>C (p.Glu971Ala) rs1575246793
NM_001349253.2(SCN11A):c.2920C>T (p.Pro974Ser)
NM_001349253.2(SCN11A):c.2933T>C (p.Ile978Thr)
NM_001349253.2(SCN11A):c.2936A>G (p.Gln979Arg)
NM_001349253.2(SCN11A):c.2942C>T (p.Pro981Leu)
NM_001349253.2(SCN11A):c.2944C>G (p.Arg982Gly) rs145290679
NM_001349253.2(SCN11A):c.2947A>C (p.Lys983Gln)
NM_001349253.2(SCN11A):c.2950-1G>A
NM_001349253.2(SCN11A):c.2950-5T>A
NM_001349253.2(SCN11A):c.2956del (p.Asp986fs)
NM_001349253.2(SCN11A):c.2959G>A (p.Val987Ile) rs2065380258
NM_001349253.2(SCN11A):c.2965A>G (p.Ser989Gly)
NM_001349253.2(SCN11A):c.2977G>T (p.Glu993Ter)
NM_001349253.2(SCN11A):c.2981G>T (p.Cys994Phe)
NM_001349253.2(SCN11A):c.298A>G (p.Ile100Val)
NM_001349253.2(SCN11A):c.2994T>G (p.Asp998Glu) rs754935144
NM_001349253.2(SCN11A):c.3000G>A (p.Gln1000=) rs779994006
NM_001349253.2(SCN11A):c.3000G>T (p.Gln1000His)
NM_001349253.2(SCN11A):c.3015G>T (p.Trp1005Cys)
NM_001349253.2(SCN11A):c.3027G>T (p.Met1009Ile)
NM_001349253.2(SCN11A):c.3028G>T (p.Val1010Phe)
NM_001349253.2(SCN11A):c.3040C>T (p.Gln1014Ter) rs2065377554
NM_001349253.2(SCN11A):c.3042A>T (p.Gln1014His) rs1553635601
NM_001349253.2(SCN11A):c.305G>A (p.Arg102His) rs376933529
NM_001349253.2(SCN11A):c.3061A>C (p.Lys1021Gln) rs1306874235
NM_001349253.2(SCN11A):c.3064+4A>G
NM_001349253.2(SCN11A):c.3064G>A (p.Gly1022Ser)
NM_001349253.2(SCN11A):c.3064G>T (p.Gly1022Cys) rs144070491
NM_001349253.2(SCN11A):c.3077G>A (p.Cys1026Tyr) rs2126106744
NM_001349253.2(SCN11A):c.3083C>A (p.Pro1028Gln)
NM_001349253.2(SCN11A):c.3086G>A (p.Cys1029Tyr)
NM_001349253.2(SCN11A):c.3103A>G (p.Arg1035Gly)
NM_001349253.2(SCN11A):c.3107A>T (p.Lys1036Met)
NM_001349253.2(SCN11A):c.3116G>A (p.Trp1039Ter) rs2065341846
NM_001349253.2(SCN11A):c.3116G>C (p.Trp1039Ser) rs2065341846
NM_001349253.2(SCN11A):c.3118G>A (p.Val1040Ile) rs1575242633
NM_001349253.2(SCN11A):c.3132C>A (p.Asn1044Lys) rs35693485
NM_001349253.2(SCN11A):c.3158T>G (p.Val1053Gly)
NM_001349253.2(SCN11A):c.3171G>C (p.Trp1057Cys) rs779978505
NM_001349253.2(SCN11A):c.3187A>G (p.Ile1063Val)
NM_001349253.2(SCN11A):c.3220-3C>G rs2126103959
NM_001349253.2(SCN11A):c.3220-6T>C
NM_001349253.2(SCN11A):c.3236A>G (p.His1079Arg) rs1296585130
NM_001349253.2(SCN11A):c.3244A>C (p.Asn1082His) rs1281980551
NM_001349253.2(SCN11A):c.3250C>T (p.Pro1084Ser)
NM_001349253.2(SCN11A):c.3252del (p.Ile1086fs)
NM_001349253.2(SCN11A):c.3257T>C (p.Ile1086Thr)
NM_001349253.2(SCN11A):c.3264A>C (p.Glu1088Asp)
NM_001349253.2(SCN11A):c.3267A>C (p.Leu1089Phe)
NM_001349253.2(SCN11A):c.326T>C (p.Leu109Ser) rs1553644031
NM_001349253.2(SCN11A):c.3272A>G (p.Asn1091Ser)
NM_001349253.2(SCN11A):c.327G>T (p.Leu109Phe) rs758993292
NM_001349253.2(SCN11A):c.3295C>A (p.His1099Asn)
NM_001349253.2(SCN11A):c.3296A>G (p.His1099Arg) rs2065282612
NM_001349253.2(SCN11A):c.3303T>A (p.Phe1101Leu)
NM_001349253.2(SCN11A):c.3313_3315del (p.Met1105del) rs2126103823
NM_001349253.2(SCN11A):c.3316G>T (p.Val1106Leu)
NM_001349253.2(SCN11A):c.3332C>T (p.Ala1111Val) rs781584280
NM_001349253.2(SCN11A):c.3340T>C (p.Phe1114Leu)
NM_001349253.2(SCN11A):c.3344G>T (p.Gly1115Val)
NM_001349253.2(SCN11A):c.3348del (p.Lys1116fs)
NM_001349253.2(SCN11A):c.3393+1G>A rs768826766
NM_001349253.2(SCN11A):c.3393+5G>C rs2065280357
NM_001349253.2(SCN11A):c.3394G>T (p.Val1132Phe)
NM_001349253.2(SCN11A):c.3412A>C (p.Ile1138Leu) rs749719157
NM_001349253.2(SCN11A):c.3422T>C (p.Met1141Thr)
NM_001349253.2(SCN11A):c.3439del (p.Arg1147fs) rs1559498726
NM_001349253.2(SCN11A):c.344_346delinsG (p.Phe115_Asn116delinsTer) rs1553644026
NM_001349253.2(SCN11A):c.3452C>T (p.Ala1151Val)
NM_001349253.2(SCN11A):c.3457A>G (p.Arg1153Gly)
NM_001349253.2(SCN11A):c.3459G>C (p.Arg1153Ser) rs765228690
NM_001349253.2(SCN11A):c.3459G>T (p.Arg1153Ser)
NM_001349253.2(SCN11A):c.3467G>A (p.Arg1156His) rs367743263
NM_001349253.2(SCN11A):c.3470C>T (p.Ala1157Val) rs1359085925
NM_001349253.2(SCN11A):c.347A>T (p.Asn116Ile) rs551315107
NM_001349253.2(SCN11A):c.3488G>A (p.Gly1163Glu)
NM_001349253.2(SCN11A):c.3495+1G>A
NM_001349253.2(SCN11A):c.3495+5A>G rs748710219
NM_001349253.2(SCN11A):c.357_359del (p.Arg119del) rs994854442
NM_001349253.2(SCN11A):c.364G>A (p.Ala122Thr) rs1559549759
NM_001349253.2(SCN11A):c.367A>G (p.Ile123Val) rs899219448
NM_001349253.2(SCN11A):c.3767T>G (p.Phe1256Cys)
NM_001349253.2(SCN11A):c.3780G>A (p.Met1260Ile)
NM_001349253.2(SCN11A):c.3781G>A (p.Asp1261Asn)
NM_001349253.2(SCN11A):c.3791A>G (p.Tyr1264Cys)
NM_001349253.2(SCN11A):c.37G>A (p.Glu13Lys)
NM_001349253.2(SCN11A):c.3813G>A (p.Glu1271=)
NM_001349253.2(SCN11A):c.3820C>G (p.Gln1274Glu) rs1553633165
NM_001349253.2(SCN11A):c.3835G>C (p.Glu1279Gln) rs2126092686
NM_001349253.2(SCN11A):c.3856A>C (p.Ile1286Leu) rs752151721
NM_001349253.2(SCN11A):c.3856A>T (p.Ile1286Phe) rs752151721
NM_001349253.2(SCN11A):c.3857T>C (p.Ile1286Thr)
NM_001349253.2(SCN11A):c.386+6C>T rs2066523249
NM_001349253.2(SCN11A):c.3861C>T (p.Tyr1287=)
NM_001349253.2(SCN11A):c.3951+1A>G rs748450083
NM_001349253.2(SCN11A):c.3952-2A>G rs1288853770
NM_001349253.2(SCN11A):c.3956G>A (p.Gly1319Asp)
NM_001349253.2(SCN11A):c.3956del (p.Gly1319fs)
NM_001349253.2(SCN11A):c.395G>T (p.Ser132Ile) rs2066503521
NM_001349253.2(SCN11A):c.3979_3980del (p.Glu1327fs)
NM_001349253.2(SCN11A):c.3999T>C (p.Tyr1333=)
NM_001349253.2(SCN11A):c.4014dup (p.Leu1339fs) rs1016939517
NM_001349253.2(SCN11A):c.4016T>C (p.Leu1339Ser) rs2064992746
NM_001349253.2(SCN11A):c.4016del (p.Lys1338_Leu1339insTer)
NM_001349253.2(SCN11A):c.401T>A (p.Phe134Tyr) rs2066503304
NM_001349253.2(SCN11A):c.4025A>G (p.Lys1342Arg)
NM_001349253.2(SCN11A):c.4029A>T (p.Lys1343Asn)
NM_001349253.2(SCN11A):c.4030C>A (p.Pro1344Thr) rs2126089243
NM_001349253.2(SCN11A):c.4034A>G (p.Gln1345Arg)
NM_001349253.2(SCN11A):c.4038A>T (p.Lys1346Asn) rs2126089224
NM_001349253.2(SCN11A):c.403A>G (p.Ile135Val)
NM_001349253.2(SCN11A):c.4045C>T (p.Pro1349Ser)
NM_001349253.2(SCN11A):c.404T>C (p.Ile135Thr) rs2125572915
NM_001349253.2(SCN11A):c.4051C>A (p.Pro1351Thr) rs2126089209
NM_001349253.2(SCN11A):c.4057-1G>A rs1575205608
NM_001349253.2(SCN11A):c.4060A>T (p.Lys1354Ter)
NM_001349253.2(SCN11A):c.4062A>T (p.Lys1354Asn) rs2064764771
NM_001349253.2(SCN11A):c.4064G>A (p.Cys1355Tyr) rs555362768
NM_001349253.2(SCN11A):c.4070G>C (p.Gly1357Ala)
NM_001349253.2(SCN11A):c.4081G>A (p.Asp1361Asn) rs150340436
NM_001349253.2(SCN11A):c.4084A>G (p.Ile1362Val) rs1360833215
NM_001349253.2(SCN11A):c.409G>A (p.Gly137Ser)
NM_001349253.2(SCN11A):c.4109T>A (p.Ile1370Asn) rs772646322
NM_001349253.2(SCN11A):c.4109T>G (p.Ile1370Ser) rs772646322
NM_001349253.2(SCN11A):c.4117A>G (p.Ile1373Val) rs199558321
NM_001349253.2(SCN11A):c.4120A>G (p.Ser1374Gly)
NM_001349253.2(SCN11A):c.4122del (p.Leu1375fs) rs2126079659
NM_001349253.2(SCN11A):c.4138A>G (p.Met1380Val)
NM_001349253.2(SCN11A):c.4171C>T (p.Pro1391Ser)
NM_001349253.2(SCN11A):c.4187C>A (p.Ser1396Tyr)
NM_001349253.2(SCN11A):c.4198C>T (p.His1400Tyr)
NM_001349253.2(SCN11A):c.4208G>A (p.Trp1403Ter) rs2064760506
NM_001349253.2(SCN11A):c.4216G>T (p.Val1406Leu)
NM_001349253.2(SCN11A):c.4222A>C (p.Ile1408Leu)
NM_001349253.2(SCN11A):c.425A>G (p.Asn142Ser) rs770580650
NM_001349253.2(SCN11A):c.4276A>G (p.Thr1426Ala)
NM_001349253.2(SCN11A):c.4280A>G (p.Asn1427Ser)
NM_001349253.2(SCN11A):c.4284C>T (p.Gly1428=) rs1415789103
NM_001349253.2(SCN11A):c.4298A>T (p.Asp1433Val)
NM_001349253.2(SCN11A):c.429C>A (p.Cys143Ter) rs1429601834
NM_001349253.2(SCN11A):c.4301G>C (p.Cys1434Ser)
NM_001349253.2(SCN11A):c.4309G>C (p.Val1437Leu) rs149699837
NM_001349253.2(SCN11A):c.430G>A (p.Val144Met) rs763905978
NM_001349253.2(SCN11A):c.4321A>C (p.Ile1441Leu) rs2126079371
NM_001349253.2(SCN11A):c.4322T>C (p.Ile1441Thr)
NM_001349253.2(SCN11A):c.4327A>G (p.Ser1443Gly)
NM_001349253.2(SCN11A):c.4328-3G>A rs2064700309
NM_001349253.2(SCN11A):c.4330A>G (p.Thr1444Ala) rs2064700068
NM_001349253.2(SCN11A):c.4333A>G (p.Met1445Val)
NM_001349253.2(SCN11A):c.4359G>C (p.Glu1453Asp)
NM_001349253.2(SCN11A):c.4376C>G (p.Pro1459Arg)
NM_001349253.2(SCN11A):c.4381C>T (p.Leu1461Phe) rs2064698471
NM_001349253.2(SCN11A):c.4397G>A (p.Arg1466His) rs143014764
NM_001349253.2(SCN11A):c.442A>G (p.Thr148Ala)
NM_001349253.2(SCN11A):c.4433G>A (p.Arg1478Gln) rs758597298
NM_001349253.2(SCN11A):c.4442G>A (p.Arg1481Gln)
NM_001349253.2(SCN11A):c.4449C>G (p.Ile1483Met)
NM_001349253.2(SCN11A):c.4481T>G (p.Leu1494Arg)
NM_001349253.2(SCN11A):c.4498A>T (p.Ile1500Phe)
NM_001349253.2(SCN11A):c.4528A>G (p.Ile1510Val)
NM_001349253.2(SCN11A):c.4529T>C (p.Ile1510Thr)
NM_001349253.2(SCN11A):c.4532A>G (p.Tyr1511Cys)
NM_001349253.2(SCN11A):c.4550A>C (p.Asn1517Thr)
NM_001349253.2(SCN11A):c.4562A>G (p.Lys1521Arg)
NM_001349253.2(SCN11A):c.4564G>C (p.Val1522Leu)
NM_001349253.2(SCN11A):c.4576T>C (p.Ser1526Pro) rs2064693061
NM_001349253.2(SCN11A):c.4586A>G (p.Asp1529Gly)
NM_001349253.2(SCN11A):c.4589A>G (p.Asp1530Gly)
NM_001349253.2(SCN11A):c.4589A>T (p.Asp1530Val) rs1367484622
NM_001349253.2(SCN11A):c.4604A>G (p.Lys1535Arg) rs1553630322
NM_001349253.2(SCN11A):c.4610_4611del (p.Phe1537fs)
NM_001349253.2(SCN11A):c.4612G>T (p.Ala1538Ser) rs2064691553
NM_001349253.2(SCN11A):c.4621A>G (p.Met1541Val) rs2064691385
NM_001349253.2(SCN11A):c.4622T>C (p.Met1541Thr) rs2126076337
NM_001349253.2(SCN11A):c.4640T>C (p.Ile1547Thr) rs554959327
NM_001349253.2(SCN11A):c.4646C>T (p.Thr1549Ile) rs368803726
NM_001349253.2(SCN11A):c.4648T>C (p.Ser1550Pro)
NM_001349253.2(SCN11A):c.4658G>A (p.Trp1553Ter)
NM_001349253.2(SCN11A):c.4669C>T (p.Leu1557Phe) rs2126076257
NM_001349253.2(SCN11A):c.4735A>C (p.Ile1579Leu) rs1206327161
NM_001349253.2(SCN11A):c.4741A>C (p.Thr1581Pro)
NM_001349253.2(SCN11A):c.4748A>G (p.Tyr1583Cys) rs1559482748
NM_001349253.2(SCN11A):c.4762A>T (p.Ile1588Phe) rs1357207534
NM_001349253.2(SCN11A):c.4787T>C (p.Val1596Ala) rs1343397859
NM_001349253.2(SCN11A):c.4789A>C (p.Asn1597His)
NM_001349253.2(SCN11A):c.4798A>T (p.Ile1600Phe)
NM_001349253.2(SCN11A):c.4801G>C (p.Ala1601Pro)
NM_001349253.2(SCN11A):c.4823A>G (p.Asn1608Ser)
NM_001349253.2(SCN11A):c.4837G>A (p.Glu1613Lys) rs1559482661
NM_001349253.2(SCN11A):c.4842T>A (p.Ser1614Arg)
NM_001349253.2(SCN11A):c.4858G>A (p.Glu1620Lys)
NM_001349253.2(SCN11A):c.4860A>C (p.Glu1620Asp) rs2064685800
NM_001349253.2(SCN11A):c.4885G>C (p.Val1629Leu)
NM_001349253.2(SCN11A):c.4894A>G (p.Lys1632Glu)
NM_001349253.2(SCN11A):c.4898T>A (p.Phe1633Tyr)
NM_001349253.2(SCN11A):c.489G>T (p.Glu163Asp) rs774022892
NM_001349253.2(SCN11A):c.4909G>T (p.Ala1637Ser)
NM_001349253.2(SCN11A):c.4912A>G (p.Thr1638Ala) rs1160994855
NM_001349253.2(SCN11A):c.4913C>T (p.Thr1638Ile) rs768959468
NM_001349253.2(SCN11A):c.4915C>G (p.Gln1639Glu) rs2064684009
NM_001349253.2(SCN11A):c.4931C>T (p.Ser1644Phe) rs1575200941
NM_001349253.2(SCN11A):c.4933G>C (p.Ala1645Pro)
NM_001349253.2(SCN11A):c.4953T>A (p.Asp1651Glu)
NM_001349253.2(SCN11A):c.4966C>G (p.Pro1656Ala) rs757777457
NM_001349253.2(SCN11A):c.4966C>T (p.Pro1656Ser) rs757777457
NM_001349253.2(SCN11A):c.4972C>T (p.Arg1658Cys)
NM_001349253.2(SCN11A):c.4990A>G (p.Lys1664Glu)
NM_001349253.2(SCN11A):c.49C>T (p.Arg17Cys)
NM_001349253.2(SCN11A):c.5020A>G (p.Met1674Val)
NM_001349253.2(SCN11A):c.5041C>T (p.His1681Tyr)
NM_001349253.2(SCN11A):c.5053A>G (p.Ile1685Val)
NM_001349253.2(SCN11A):c.5062G>T (p.Ala1688Ser)
NM_001349253.2(SCN11A):c.5075G>T (p.Arg1692Met) rs2064678409
NM_001349253.2(SCN11A):c.5077G>T (p.Val1693Leu) rs1559482273
NM_001349253.2(SCN11A):c.5087G>A (p.Gly1696Asp) rs2126075625
NM_001349253.2(SCN11A):c.5101G>T (p.Asp1701Tyr)
NM_001349253.2(SCN11A):c.5110A>G (p.Lys1704Glu)
NM_001349253.2(SCN11A):c.5127_5128dup (p.Lys1710fs) rs1553630088
NM_001349253.2(SCN11A):c.5135T>C (p.Met1712Thr) rs1559482153
NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys)
NM_001349253.2(SCN11A):c.5169_5181del (p.Ile1724fs)
NM_001349253.2(SCN11A):c.516del (p.Phe172fs) rs1575301323
NM_001349253.2(SCN11A):c.5170A>G (p.Ile1724Val)
NM_001349253.2(SCN11A):c.520G>C (p.Ala174Pro) rs748548157
NM_001349253.2(SCN11A):c.5212G>T (p.Ala1738Ser)
NM_001349253.2(SCN11A):c.5225A>T (p.Lys1742Met) rs774850265
NM_001349253.2(SCN11A):c.5227del (p.Ala1743fs) rs759524863
NM_001349253.2(SCN11A):c.5261_5270dup (p.Gly1757_Asp1758insTer) rs774589923
NM_001349253.2(SCN11A):c.5266C>G (p.Gln1756Glu) rs2064672266
NM_001349253.2(SCN11A):c.5279A>G (p.Asn1760Ser)
NM_001349253.2(SCN11A):c.5282A>C (p.Asp1761Ala)
NM_001349253.2(SCN11A):c.5282A>G (p.Asp1761Gly)
NM_001349253.2(SCN11A):c.5309T>C (p.Leu1770Pro)
NM_001349253.2(SCN11A):c.5311C>T (p.Gln1771Ter)
NM_001349253.2(SCN11A):c.5319_5320del (p.Cys1774fs)
NM_001349253.2(SCN11A):c.5320T>C (p.Cys1774Arg)
NM_001349253.2(SCN11A):c.5326G>C (p.Gly1776Arg)
NM_001349253.2(SCN11A):c.5341T>A (p.Phe1781Ile)
NM_001349253.2(SCN11A):c.5358C>T (p.Gly1786=) rs1199517748
NM_001349253.2(SCN11A):c.5366A>G (p.His1789Arg)
NM_001349253.2(SCN11A):c.5371G>C (p.Asp1791His)
NM_001349253.2(SCN11A):c.53C>T (p.Pro18Leu) rs2066592877
NM_001349253.2(SCN11A):c.541dup (p.Arg181fs) rs2066150857
NM_001349253.2(SCN11A):c.547T>G (p.Phe183Val)
NM_001349253.2(SCN11A):c.557A>G (p.Asp186Gly)
NM_001349253.2(SCN11A):c.55T>A (p.Phe19Ile)
NM_001349253.2(SCN11A):c.561G>T (p.Glu187Asp)
NM_001349253.2(SCN11A):c.574C>T (p.Arg192Ter)
NM_001349253.2(SCN11A):c.5A>G (p.Asp2Gly)
NM_001349253.2(SCN11A):c.601A>G (p.Ile201Val)
NM_001349253.2(SCN11A):c.602T>G (p.Ile201Ser)
NM_001349253.2(SCN11A):c.607A>G (p.Ile203Val)
NM_001349253.2(SCN11A):c.618-5_618-4insCCCTGTGCTTTGTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTCGATGTCTTGCGCTCGTGATCCGCCCGCCTCGGCCTCTCTAGGTGCTGGGAGTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001349253.2(SCN11A):c.629A>G (p.Tyr210Cys)
NM_001349253.2(SCN11A):c.640A>G (p.Ile214Val)
NM_001349253.2(SCN11A):c.644C>G (p.Thr215Ser) rs2066124702
NM_001349253.2(SCN11A):c.644C>T (p.Thr215Ile)
NM_001349253.2(SCN11A):c.662T>C (p.Leu221Pro) rs2066123935
NM_001349253.2(SCN11A):c.664C>T (p.Arg222Cys)
NM_001349253.2(SCN11A):c.673del (p.Arg225fs) rs1559535757
NM_001349253.2(SCN11A):c.674G>A (p.Arg225His)
NM_001349253.2(SCN11A):c.686C>G (p.Ala229Gly) rs2125552666
NM_001349253.2(SCN11A):c.695C>T (p.Ala232Val) rs1553641382
NM_001349253.2(SCN11A):c.703G>T (p.Val235Leu) rs770885330
NM_001349253.2(SCN11A):c.712+1G>A rs768647693
NM_001349253.2(SCN11A):c.712+1G>C rs768647693
NM_001349253.2(SCN11A):c.712C>A (p.Arg238Ser)
NM_001349253.2(SCN11A):c.713-3C>T
NM_001349253.2(SCN11A):c.722T>C (p.Val241Ala) rs1282362874
NM_001349253.2(SCN11A):c.727G>A (p.Val243Met)
NM_001349253.2(SCN11A):c.731G>A (p.Gly244Glu)
NM_001349253.2(SCN11A):c.737T>C (p.Leu246Ser) rs1553640859
NM_001349253.2(SCN11A):c.73G>A (p.Ala25Thr) rs2125577366
NM_001349253.2(SCN11A):c.742C>G (p.Arg248Gly)
NM_001349253.2(SCN11A):c.760G>A (p.Val254Ile)
NM_001349253.2(SCN11A):c.764A>T (p.Asn255Ile)
NM_001349253.2(SCN11A):c.76del (p.Ala26fs)
NM_001349253.2(SCN11A):c.780C>T (p.Thr260=)
NM_001349253.2(SCN11A):c.781T>C (p.Phe261Leu)
NM_001349253.2(SCN11A):c.782del (p.Phe261fs) rs1064793259
NM_001349253.2(SCN11A):c.793A>T (p.Ser265Cys) rs2066045382
NM_001349253.2(SCN11A):c.794_797dup (p.Ile266fs) rs2125548578
NM_001349253.2(SCN11A):c.803C>T (p.Ala268Val) rs2125548572
NM_001349253.2(SCN11A):c.808G>A (p.Val270Ile) rs2125548557
NM_001349253.2(SCN11A):c.810A>G (p.Val270=)
NM_001349253.2(SCN11A):c.814C>A (p.Gln272Lys) rs748902481
NM_001349253.2(SCN11A):c.819G>C (p.Gln273His)
NM_001349253.2(SCN11A):c.827T>G (p.Met276Arg)
NM_001349253.2(SCN11A):c.833G>T (p.Ser278Ile) rs142475124
NM_001349253.2(SCN11A):c.841C>G (p.Leu281Val) rs2066043907
NM_001349253.2(SCN11A):c.843G>A (p.Leu281=)
NM_001349253.2(SCN11A):c.854C>G (p.Ser285Trp) rs765170928
NM_001349253.2(SCN11A):c.854C>T (p.Ser285Leu) rs765170928
NM_001349253.2(SCN11A):c.859G>A (p.Asp287Asn) rs867183741
NM_001349253.2(SCN11A):c.859del (p.Asp287fs)
NM_001349253.2(SCN11A):c.862T>C (p.Cys288Arg) rs2125548468
NM_001349253.2(SCN11A):c.865A>G (p.Lys289Glu) rs1553640810
NM_001349253.2(SCN11A):c.871A>G (p.Ile291Val) rs1250074487
NM_001349253.2(SCN11A):c.876T>A (p.Ser292Arg) rs2066042978
NM_001349253.2(SCN11A):c.88C>G (p.Arg30Gly) rs761199291
NM_001349253.2(SCN11A):c.890A>G (p.Tyr297Cys)
NM_001349253.2(SCN11A):c.891T>C (p.Tyr297=) rs1553640799
NM_001349253.2(SCN11A):c.895C>A (p.His299Asn)
NM_001349253.2(SCN11A):c.919T>G (p.Ser307Ala)
NM_001349253.2(SCN11A):c.920C>T (p.Ser307Leu) rs1166678317
NM_001349253.2(SCN11A):c.935T>C (p.Met312Thr) rs2066018798
NM_001349253.2(SCN11A):c.938G>A (p.Cys313Tyr) rs1483985149
NM_001349253.2(SCN11A):c.950T>C (p.Met317Thr) rs1559531816
NM_001349253.2(SCN11A):c.960-2A>G
NM_001349253.2(SCN11A):c.968C>T (p.Ser323Phe) rs2065867310
NM_001349253.2(SCN11A):c.973C>A (p.Gln325Lys)
NM_001349253.2(SCN11A):c.974A>G (p.Gln325Arg) rs542904299
NM_001349253.2(SCN11A):c.979G>A (p.Glu327Lys)
NM_001349253.2(SCN11A):c.97A>G (p.Ile33Val)
NM_001349253.2(SCN11A):c.995A>G (p.Lys332Arg)

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