Unique variants in gene SCN4A

Information The variants shown are described using the NM_000334.4 transcript reference sequence.

135 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.235C>T r.(?) p.(Pro79Ser) g.62049967G>A - SCN4A_000135 rs376505442 0.001938 1 516 9721 - - Admin
./. 1 - c.248T>C r.(?) p.(Leu83Pro) g.62049954A>G - SCN4A_000134 rs147352060 0.001938 1 516 9690 - - Admin
./. 1 - c.273+19T>G r.(=) p.(=) g.62049910A>C - SCN4A_000133 rs756421900 0.001938 1 516 9599 - - Admin
./. 1 - c.318C>T r.(=) p.(=) g.62049786G>A - SCN4A_000132 rs138670794 0.001938 1 516 9053 - - Admin
./. 1 - c.355G>A r.(?) p.(Val119Ile) g.62049749C>T - SCN4A_000131 rs41280110 0.001938 1 516 8715 - - Admin
./. 1 - c.366C>T r.(=) p.(=) g.62049738G>A - SCN4A_000130 rs41280108 0.048 25 516 8998 - - Admin
./. 1 - c.392+25C>T r.(=) p.(=) g.62049687G>A - SCN4A_000129 rs141799189 0.005814 3 516 8750 - - Admin
./. 1 - c.392+45C>T r.(=) p.(=) g.62049667G>A - SCN4A_000128 rs202172639 0.003876 2 516 8998 - - Admin
./. 1 - c.404T>C r.(?) p.(Met135Thr) g.62049574A>G - SCN4A_000127 rs115304957 0.001938 1 516 9490 - - Admin
./. 1 - c.483-123G>A r.(=) p.(=) g.62049333C>T - SCN4A_000126 rs143568820 0.001938 1 516 4629 - - Admin
./. 1 - c.483-25T>C r.(=) p.(=) g.62049235A>G - SCN4A_000125 rs9892013 0.996 514 516 6436 - - Admin
./. 1 - c.483-5C>A r.spl? p.? g.62049215G>T - SCN4A_000123 rs191547933 0.001938 1 516 7579 - - Admin
./. 1 - c.483-5C>T r.spl? p.? g.62049215G>A - SCN4A_000124 rs191547933 0.001938 1 516 7579 - - Admin
./. 1 - c.489C>G r.(=) p.(=) g.62049204G>C - SCN4A_000122 rs146590697 0.005814 3 516 7683 - - Admin
./. 1 - c.569G>A r.(?) p.(Arg190Gln) g.62049124C>T - SCN4A_000121 rs755953358 0.001938 1 516 5786 - - Admin
./. 1 - c.612-94G>A r.(=) p.(=) g.62048707C>T - SCN4A_000120 rs2302237 0.268 138 514 1738 - - Admin
./. 1 - c.612-40A>C r.(=) p.(=) g.62048653T>G - SCN4A_000119 rs1454312565 0.021 11 516 3333 11 - Admin
./. 1 - c.703+55T>C r.(=) p.(=) g.62048467A>G - SCN4A_000118 rs2302236 0.884 456 516 7139 - - Admin
./. 1 - c.703+158C>A r.(=) p.(=) g.62048364G>T - SCN4A_000117 rs140466720 0.001938 1 516 2781 - - Admin
./. 1 - c.726C>T r.(=) p.(=) g.62045693G>A - SCN4A_000116 rs73326368 0.014 7 516 6028 - - Admin
./. 1 - c.864C>T r.(=) p.(=) g.62045555G>A - SCN4A_000115 rs7218917 0.039 20 516 11128 - - Admin
./. 1 - c.968C>T r.(?) p.(Thr323Met) g.62045451G>A - SCN4A_000114 rs80338952 0.001938 1 516 10602 - - Admin
./. 1 - c.1011T>C r.(=) p.(=) g.62045408A>G - SCN4A_000113 rs372791798 0.001938 1 516 10634 - - Admin
./. 1 - c.1036+84_1036+85insG r.(=) p.(=) g.62045298_62045299insC - SCN4A_000112 rs550986247 - - - - - - Admin
./. 1 - c.1036+89del r.(=) p.(=) g.62045294del - SCN4A_000110 rs1305049928 - - - - - - Admin
./. 1 - c.1036+89dup r.(=) p.(=) g.62045294dup - SCN4A_000111 rs1305049928 - - - - - - Admin
./. 1 - c.1036+90G>T r.(=) p.(=) g.62045293C>A - SCN4A_000109 rs1305049928 - - - - - - Admin
./. 1 - c.1036+90_1036+91insTT r.(=) p.(=) g.62045292_62045293insAA - SCN4A_000108 - - - - - - - Admin
./. 1 - c.1036+165C>T r.(=) p.(=) g.62045218G>A - SCN4A_000107 rs529621884 0.001969 1 508 1758 - - Admin
./. 1 - c.1037-112G>A r.(=) p.(=) g.62044016C>T - SCN4A_000106 rs78364035 0.053 27 510 2570 - - Admin
./. 1 - c.1037-93C>T r.(=) p.(=) g.62043997G>A - SCN4A_000105 rs1167203819 0.001938 1 516 3255 1 - Admin
./. 1 - c.1100+7G>A r.(=) p.(=) g.62043834C>T - SCN4A_000104 rs200770684 0.001938 1 516 8949 - - Admin
./. 1 - c.1100+62T>G r.(=) p.(=) g.62043779A>C - SCN4A_000103 rs370724810 0.001938 1 516 8712 - - Admin
./. 1 - c.1100+83C>G r.(=) p.(=) g.62043758G>C - SCN4A_000102 rs77563591 0.029 15 516 8643 - - Admin
./. 1 - c.1100+115T>G r.(=) p.(=) g.62043726A>C - SCN4A_000101 rs73326367 0.027 14 516 8310 - - Admin
./. 1 - c.1101-91G>C r.(=) p.(=) g.62043694C>G - SCN4A_000100 rs188919013 0.001938 1 516 7460 - - Admin
./. 1 - c.1101-34C>T r.(=) p.(=) g.62043637G>A - SCN4A_000099 rs1005821737 0.001938 1 516 7999 1 - Admin
./. 1 - c.1167T>C r.(=) p.(=) g.62043537A>G - SCN4A_000098 rs16947296 0.029 15 516 9180 - - Admin
./. 1 - c.1243-41A>G r.(=) p.(=) g.62042078T>C - SCN4A_000097 rs2877373 0.826 400 484 1314 - - Admin
./. 1 - c.1281C>T r.(=) p.(=) g.62041999G>A - SCN4A_000096 rs369445518 0.001938 1 516 3877 - - Admin
./. 1 - c.1366G>A r.(?) p.(Ala456Thr) g.62041914C>T - SCN4A_000095 - 0.001938 1 516 6297 1 - Admin
./. 1 - c.1452+89G>C r.(=) p.(=) g.62041739C>G - SCN4A_000094 rs41280106 0.003876 2 516 2376 - - Admin
./. 1 - c.1453-132C>A r.(=) p.(=) g.62041317G>T - SCN4A_000093 rs2331408 0.829 418 504 1988 - - Admin
./. 1 - c.1453-23C>T r.(=) p.(=) g.62041208G>A - SCN4A_000092 rs75168694 0.003876 2 516 6639 - - Admin
./. 1 - c.1453-4A>G r.spl? p.? g.62041189T>C - SCN4A_000091 rs111818485 0.001938 1 516 7169 - - Admin
./. 1 - c.1570A>G r.(?) p.(Ser524Gly) g.62041068T>C - SCN4A_000090 rs6504191 0.953 492 516 6561 - - Admin
./. 1 - c.1606+20G>A r.(=) p.(=) g.62041012C>T - SCN4A_000089 rs73326363 0.012 6 514 2672 - - Admin
./. 1 - c.1606+54C>G r.(=) p.(=) g.62040978G>C - SCN4A_000088 rs73326361 0.007874 4 508 1510 - - Admin
./. 1 - c.1606+75T>C r.(=) p.(=) g.62040957A>G - SCN4A_000087 rs533710672 0.002 1 500 1382 - - Admin
./. 1 - c.1607-52G>A r.(=) p.(=) g.62038843C>T - SCN4A_000086 rs369974345 0.001938 1 516 6976 - - Admin
./. 1 - c.1653C>T r.(=) p.(=) g.62038745G>A - SCN4A_000085 rs201199086 0.003876 2 516 9940 - - Admin
./. 1 - c.1845+2T>G r.spl? p.? g.62038551A>C - SCN4A_000084 rs1325244376 0.01 5 496 3835 5 - Admin
./. 1 - c.1845+3A>G r.spl? p.? g.62038550T>C - SCN4A_000083 rs1326121968 0.01 5 496 3823 5 - Admin
./. 1 - c.1845+7A>G r.(=) p.(=) g.62038546T>C - SCN4A_000082 rs141021600 0.042 18 426 3375 - - Admin
./. 1 - c.1845+12C>G r.(=) p.(=) g.62038541G>C - SCN4A_000081 rs776175702 0.074 28 378 2544 - - Admin
./. 1 - c.1845+18A>G r.(=) p.(=) g.62038535T>C - SCN4A_000080 rs775429476 0.044 19 434 2634 - - Admin
./. 1 - c.1845+40T>G r.(=) p.(=) g.62038513A>C - SCN4A_000079 rs1303713598 0.026 13 504 2242 13 - Admin
./. 1 - c.1845+44A>G r.(=) p.(=) g.62038509T>C - SCN4A_000078 rs1363534324 0.025 13 510 2245 11 1 Admin
./. 1 - c.1845+49G>C r.(=) p.(=) g.62038504C>G - SCN4A_000077 rs757085270 0.005814 3 516 2462 - - Admin
./. 1 - c.1845+57C>T r.(=) p.(=) g.62038496G>A - SCN4A_000076 rs60911788 0.003891 2 514 2251 - - Admin
./. 1 - c.2020-49G>A r.(=) p.(=) g.62034927C>T - SCN4A_000075 rs114409098 0.023 12 514 4639 - - Admin
./. 1 - c.2214C>A r.(?) p.(Asn738Lys) g.62034684G>T - SCN4A_000074 - 0.001938 1 516 9643 1 - Admin
./. 1 - c.2289C>T r.(=) p.(=) g.62034609G>A - SCN4A_000073 rs76894284 0.017 9 516 9591 - - Admin
./. 1 - c.2341G>A r.(?) p.(Val781Ile) g.62034557C>T - SCN4A_000072 rs62070884 0.005814 3 516 9421 - - Admin
./. 1 - c.2376+43G>A r.(=) p.(=) g.62034479C>T - SCN4A_000071 rs60037396 0.054 28 516 8682 - - Admin
./. 1 - c.2376+87A>G r.(=) p.(=) g.62034435T>C - SCN4A_000070 rs142948938 0.005814 3 516 5981 - - Admin
./. 1 - c.2421C>T r.(=) p.(=) g.62029216G>A - SCN4A_000069 rs540328974 0.001938 1 516 5203 - - Admin
./. 1 - c.2631T>C r.(=) p.(=) g.62029006A>G - SCN4A_000068 rs79893125 0.058 30 516 9752 - - Admin
./. 1 - c.2645C>A r.(?) p.(Pro882Gln) g.62028992G>T - SCN4A_000067 rs111858905 0.005814 3 516 9287 - - Admin
./. 1 - c.2717G>C r.(?) p.(Ser906Thr) g.62028920C>G - SCN4A_000066 rs41280102 0.012 6 516 9462 - - Admin
./. 1 - c.2722G>A r.(?) p.(Glu908Lys) g.62028915C>T - SCN4A_000065 rs117664682 0.005814 3 516 9347 - - Admin
./. 1 - c.2853+8G>A r.(=) p.(=) g.62028776C>T - SCN4A_000064 rs377221069 0.003876 2 516 5684 - - Admin
./. 1 - c.2853+30C>T r.(=) p.(=) g.62028754G>A - SCN4A_000063 rs116055964 0.00969 5 516 4446 - - Admin
./. 1 - c.2854-153A>G r.(=) p.(=) g.62027041T>C - SCN4A_000062 rs114603084 0.014 7 510 1832 - - Admin
./. 1 - c.2854-96C>G r.(=) p.(=) g.62026984G>C - SCN4A_000061 rs41280100 0.005814 3 516 3431 - - Admin
./. 1 - c.2890G>A r.(?) p.(Val964Ile) g.62026852C>T - SCN4A_000060 rs200947169 0.001938 1 516 9062 - - Admin
./. 1 - c.2919C>T r.(=) p.(=) g.62026823G>A - SCN4A_000059 rs73992419 0.016 8 516 9118 - - Admin
./. 1 - c.2989+5G>A r.spl? p.? g.62026748C>T - SCN4A_000058 rs115695396 0.007752 4 516 6189 - - Admin
./. 1 - c.2989+59G>A r.(=) p.(=) g.62026694C>T - SCN4A_000057 rs78492637 0.005814 3 516 3133 - - Admin
./. 1 - c.3001C>T r.(?) p.(Arg1001Cys) g.62026114G>A - SCN4A_000056 rs199713025 0.001938 1 516 8651 - - Admin
./. 1 - c.3145-98A>C r.(=) p.(=) g.62025521T>G - SCN4A_000055 rs555629674 0.001938 1 516 2345 - - Admin
./. 1 - c.3285C>T r.(=) p.(=) g.62025283G>A - SCN4A_000054 rs371401377 0.001938 1 516 8465 - - Admin
./. 1 - c.3318+12C>A r.(=) p.(=) g.62025238G>T - SCN4A_000053 rs13341114 0.314 162 516 5884 - - Admin
./. 1 - c.3318+15G>A r.(=) p.(=) g.62025235C>T - SCN4A_000052 rs371928013 0.001938 1 516 5564 - - Admin
./. 1 - c.3318+18G>A r.(=) p.(=) g.62025232C>T - SCN4A_000051 rs928381225 0.001938 1 516 5318 1 - Admin
./. 1 - c.3319-46G>A r.(=) p.(=) g.62024573C>T - SCN4A_000050 rs150896321 0.003876 2 516 3541 - - Admin
./. 1 - c.3441+102G>A r.(=) p.(=) g.62024303C>T - SCN4A_000049 rs8076075 0.012 6 516 3314 - - Admin
./. 1 - c.3441+164G>C r.(=) p.(=) g.62024241C>G - SCN4A_000048 rs8075954 0.021 11 514 2171 - - Admin
./. 1 - c.3441+175C>G r.(=) p.(=) g.62024230G>C - SCN4A_000047 rs572267396 0.001938 1 516 1910 - - Admin
./. 1 - c.3441+181C>T r.(=) p.(=) g.62024224G>A - SCN4A_000046 rs191745440 0.003876 2 516 1822 - - Admin
./. 1 - c.3442-5C>G r.spl? p.? g.62023003G>C - SCN4A_000045 - 0.001938 1 516 6675 1 - Admin
./. 1 - c.3688G>A r.(?) p.(Val1230Met) g.62022752C>T - SCN4A_000044 rs778820577 0.001938 1 516 9230 - - Admin
./. 1 - c.3720+9G>T r.(=) p.(=) g.62022711C>A - SCN4A_000043 rs9303466 0.001938 1 516 7923 - - Admin
./. 1 - c.3720+10A>G r.(=) p.(=) g.62022710T>C - SCN4A_000042 rs111679484 0.007752 4 516 7912 - - Admin
./. 1 - c.3720+50C>G r.(=) p.(=) g.62022670G>C - SCN4A_000041 rs116306098 0.027 14 516 5864 - - Admin
./. 1 - c.3720+60_3720+61insC r.(=) p.(=) g.62022659_62022660insG - SCN4A_000040 rs397956644 - - - - - - Admin
./. 1 - c.3759C>T r.(=) p.(=) g.62022382G>A - SCN4A_000039 rs72851170 0.012 6 516 8915 - - Admin
./. 1 - c.3774+7C>T r.(=) p.(=) g.62022360G>A - SCN4A_000038 rs199659791 0.001938 1 516 8560 - - Admin
./. 1 - c.3774+8G>A r.(=) p.(=) g.62022359C>T - SCN4A_000037 rs374806849 0.001938 1 516 8510 - - Admin
./. 1 - c.3774+88C>T r.(=) p.(=) g.62022279G>A - SCN4A_000036 rs140987365 0.001938 1 516 5738 - - Admin
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