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)
|
|
|