Unique variants in gene SCNN1G

Information The variants shown are described using the NM_001039.3 transcript reference sequence.

125 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-44-4C>G r.spl? p.? g.23197545C>G Copied from the Exome Variant Server SCNN1G_000001 2645/12992 2093/8598 552/4394
1 c.-31A>G r.(=) p.(=) g.23197562A>G Copied from the Exome Variant Server SCNN1G_000002 2650/12994 2097/8600 553/4394
1 c.-3G>A r.(=) p.(=) g.23197590G>A Copied from the Exome Variant Server SCNN1G_000003 1/12994 0/8600 1/4394
1 c.54G>A r.(=) p.(=) g.23197646G>A Copied from the Exome Variant Server SCNN1G_000004 1/12994 1/8600 0/4394
1 c.67C>T r.(?) p.(Pro23Ser) g.23197659C>T Copied from the Exome Variant Server SCNN1G_000005 1/12994 1/8600 0/4394
1 c.68C>T r.(?) p.(Pro23Leu) g.23197660C>T Copied from the Exome Variant Server SCNN1G_000006 1/12994 1/8600 0/4394
1 c.88C>G r.(?) p.(Arg30Gly) g.23197680C>G Copied from the Exome Variant Server SCNN1G_000007 1/12994 0/8600 1/4394
1 c.114C>T r.(=) p.(=) g.23197706C>T Copied from the Exome Variant Server SCNN1G_000008 1/12994 1/8600 0/4394
1 c.117T>C r.(=) p.(=) g.23197709T>C Copied from the Exome Variant Server SCNN1G_000009 1/12994 1/8600 0/4394
1 c.163C>A r.(?) p.(Leu55Ile) g.23197755C>A Copied from the Exome Variant Server SCNN1G_000010 1/12994 0/8600 1/4394
1 c.196C>T r.(?) p.(Leu66Phe) g.23197788C>T Copied from the Exome Variant Server SCNN1G_000011 1/12994 1/8600 0/4394
1 c.237T>C r.(=) p.(=) g.23197829T>C Copied from the Exome Variant Server SCNN1G_000012 1/12994 0/8600 1/4394
1 c.240T>C r.(=) p.(=) g.23197832T>C Copied from the Exome Variant Server SCNN1G_000013 1/12994 1/8600 0/4394
1 c.296T>C r.(?) p.(Ile99Thr) g.23197888T>C Copied from the Exome Variant Server SCNN1G_000014 1/12994 0/8600 1/4394
1 c.297C>T r.(=) p.(=) g.23197889C>T Copied from the Exome Variant Server SCNN1G_000015 2/12994 2/8600 0/4394
1 c.317+18G>C r.(=) p.(=) g.23197927G>C Copied from the Exome Variant Server SCNN1G_000016 9/12992 8/8598 1/4394
1 c.317+24G>T r.(=) p.(=) g.23197933G>T Copied from the Exome Variant Server SCNN1G_000017 32/12988 0/8596 32/4392
1 c.318-40C>T r.(=) p.(=) g.23200652C>T Copied from the Exome Variant Server SCNN1G_000018 1/12992 0/8600 1/4392
1 c.318-14C>T r.(=) p.(=) g.23200678C>T Copied from the Exome Variant Server SCNN1G_000019 8/12994 0/8600 8/4394
1 c.328G>A r.(?) p.(Val110Ile) g.23200702G>A Copied from the Exome Variant Server SCNN1G_000020 1/12994 0/8600 1/4394
1 c.387T>C r.(=) p.(=) g.23200761T>C Copied from the Exome Variant Server SCNN1G_000021 3501/12994 2759/8600 742/4394
1 c.388G>A r.(?) p.(Gly130Ser) g.23200762G>A Copied from the Exome Variant Server SCNN1G_000022 1/12994 1/8600 0/4394
1 c.399G>A r.(=) p.(=) g.23200773G>A Copied from the Exome Variant Server SCNN1G_000023 2/12994 0/8600 2/4394
1 c.401C>T r.(?) p.(Ser134Phe) g.23200775C>T Copied from the Exome Variant Server SCNN1G_000024 13/12994 0/8600 13/4394
1 c.419C>T r.(?) p.(Ala140Val) g.23200793C>T Copied from the Exome Variant Server SCNN1G_000025 1/12994 0/8600 1/4394
1 c.425C>T r.(?) p.(Ser142Phe) g.23200799C>T Copied from the Exome Variant Server SCNN1G_000026 1/12994 1/8600 0/4394
1 c.435C>T r.(=) p.(=) g.23200809C>T Copied from the Exome Variant Server SCNN1G_000027 107/12994 69/8600 38/4394
1 c.454C>T r.(?) p.(Pro152Ser) g.23200828C>T Copied from the Exome Variant Server SCNN1G_000028 1/12994 1/8600 0/4394
1 c.470G>A r.(?) p.(Arg157Gln) g.23200844G>A Copied from the Exome Variant Server SCNN1G_000029 1/12994 0/8600 1/4394
1 c.474T>C r.(=) p.(=) g.23200848T>C Copied from the Exome Variant Server SCNN1G_000030 3503/12994 2760/8600 743/4394
1 c.477G>A r.(=) p.(=) g.23200851G>A Copied from the Exome Variant Server SCNN1G_000031 1/12994 0/8600 1/4394
1 c.505G>A r.(?) p.(Gly169Ser) g.23200879G>A Copied from the Exome Variant Server SCNN1G_000032 1/12994 0/8600 1/4394
1 c.547G>A r.(?) p.(Gly183Ser) g.23200921G>A Copied from the Exome Variant Server SCNN1G_000033 165/12994 8/8600 157/4394
1 c.549C>T r.(=) p.(=) g.23200923C>T Copied from the Exome Variant Server SCNN1G_000034 833/12994 596/8600 237/4394
1 c.556A>G r.(?) p.(Ile186Val) g.23200930A>G Copied from the Exome Variant Server SCNN1G_000035 1/12994 1/8600 0/4394
1 c.588C>A r.(=) p.(=) g.23200962C>A Copied from the Exome Variant Server SCNN1G_000036 1/12994 0/8600 1/4394
1 c.589G>A r.(?) p.(Glu197Lys) g.23200963G>A Copied from the Exome Variant Server SCNN1G_000037 85/12994 74/8600 11/4394
1 c.616C>T r.(=) p.(=) g.23200990C>T Copied from the Exome Variant Server SCNN1G_000038 1/12994 0/8600 1/4394
1 c.618+36_618+46del r.(=) p.(=) g.23201028_23201038del Copied from the Exome Variant Server SCNN1G_000039 1/12516 1/8252 0/4264
1 c.618+38G>T r.(=) p.(=) g.23201030G>T Copied from the Exome Variant Server SCNN1G_000040 1/12994 0/8600 1/4394
1 c.618+40A>G r.(=) p.(=) g.23201032A>G Copied from the Exome Variant Server SCNN1G_000041 1/12994 0/8600 1/4394
1 c.619-44G>A r.(=) p.(=) g.23203629G>A Copied from the Exome Variant Server SCNN1G_000042 1/12994 0/8600 1/4394
1 c.619-16C>T r.(=) p.(=) g.23203657C>T Copied from the Exome Variant Server SCNN1G_000043 1/12994 0/8600 1/4394
1 c.619-11C>G r.(=) p.(=) g.23203662C>G Copied from the Exome Variant Server SCNN1G_000044 1/12994 1/8600 0/4394
1 c.636C>T r.(=) p.(=) g.23203690C>T Copied from the Exome Variant Server SCNN1G_000045 225/12994 207/8600 18/4394
1 c.637G>A r.(?) p.(Asp213Asn) g.23203691G>A Copied from the Exome Variant Server SCNN1G_000046 4/12994 0/8600 4/4394
1 c.644C>A r.(?) p.(Ala215Asp) g.23203698C>A Copied from the Exome Variant Server SCNN1G_000047 1/12994 1/8600 0/4394
1 c.654C>G r.(=) p.(=) g.23203708C>G Copied from the Exome Variant Server SCNN1G_000048 1/12994 0/8600 1/4394
1 c.684G>A r.(=) p.(=) g.23203738G>A Copied from the Exome Variant Server SCNN1G_000049 1/12994 1/8600 0/4394
1 c.689A>G r.(?) p.(Tyr230Cys) g.23203743A>G Copied from the Exome Variant Server SCNN1G_000050 1/12994 0/8600 1/4394
1 c.776C>A r.(?) p.(Thr259Asn) g.23203830C>A Copied from the Exome Variant Server SCNN1G_000051 8/12994 8/8600 0/4394
1 c.809+36A>C r.(=) p.(=) g.23203899A>C Copied from the Exome Variant Server SCNN1G_000052 1/12994 1/8600 0/4394
1 c.835A>T r.(?) p.(Met279Leu) g.23205517A>T Copied from the Exome Variant Server SCNN1G_000053 3/12994 0/8600 3/4394
1 c.839A>G r.(?) p.(His280Arg) g.23205521A>G Copied from the Exome Variant Server SCNN1G_000054 1/12994 1/8600 0/4394
1 c.845A>G r.(?) p.(Asn282Ser) g.23205527A>G Copied from the Exome Variant Server SCNN1G_000055 1/12994 1/8600 0/4394
1 c.849C>T r.(=) p.(=) g.23205531C>T Copied from the Exome Variant Server SCNN1G_000056 1/12994 1/8600 0/4394
1 c.906C>T r.(=) p.(=) g.23205588C>T Copied from the Exome Variant Server SCNN1G_000057 1/12994 1/8600 0/4394
1 c.913+15G>A r.(=) p.(=) g.23205610G>A Copied from the Exome Variant Server SCNN1G_000058 1/12994 1/8600 0/4394
1 c.913+37C>T r.(=) p.(=) g.23205632C>T Copied from the Exome Variant Server SCNN1G_000059 105/12994 0/8600 105/4394
1 c.913+40A>G r.(=) p.(=) g.23205635A>G Copied from the Exome Variant Server SCNN1G_000060 1/12994 1/8600 0/4394
1 c.913+50T>C r.(=) p.(=) g.23205645T>C Copied from the Exome Variant Server SCNN1G_000061 208/12994 189/8600 19/4394
1 c.914-16_914-15del r.(=) p.(=) g.23208569_23208570del Copied from the Exome Variant Server SCNN1G_000062 4/12518 4/8254 0/4264
1 c.940G>A r.(?) p.(Glu314Lys) g.23208611G>A Copied from the Exome Variant Server SCNN1G_000064 1/12994 0/8600 1/4394
1 c.942A>G r.(=) p.(=) g.23208613A>G Copied from the Exome Variant Server SCNN1G_000063 1/12994 1/8600 0/4394
1 c.945G>A r.(=) p.(=) g.23208616G>A Copied from the Exome Variant Server SCNN1G_000065 1/12994 1/8600 0/4394
1 c.957A>G r.(=) p.(=) g.23208628A>G Copied from the Exome Variant Server SCNN1G_000066 1/12994 0/8600 1/4394
1 c.1077+23A>T r.(=) p.(=) g.23208771A>T Copied from the Exome Variant Server SCNN1G_000067 4/12994 0/8600 4/4394
1 c.1078-44T>A r.(=) p.(=) g.23221027T>A Copied from the Exome Variant Server SCNN1G_000068 2/12994 1/8600 1/4394
1 c.1078-39G>C r.(=) p.(=) g.23221032G>C Copied from the Exome Variant Server SCNN1G_000069 1/12994 1/8600 0/4394
1 c.1078-31C>T r.(=) p.(=) g.23221040C>T Copied from the Exome Variant Server SCNN1G_000070 3/12994 0/8600 3/4394
1 c.1078-29G>A r.(=) p.(=) g.23221042G>A Copied from the Exome Variant Server SCNN1G_000071 17/12994 1/8600 16/4394
1 c.1078-18_1078-17insTGC r.(=) p.(=) g.23221053_23221054insTGC Copied from the Exome Variant Server SCNN1G_000072 13/12518 0/8254 13/4264
1 c.1125C>T r.(=) p.(=) g.23221118C>T Copied from the Exome Variant Server SCNN1G_000073 2/12994 1/8600 1/4394
1 c.1126G>A r.(?) p.(Gly376Arg) g.23221119G>A Copied from the Exome Variant Server SCNN1G_000074 1/12994 1/8600 0/4394
1 c.1135G>A r.(?) p.(Val379Met) g.23221128G>A Copied from the Exome Variant Server SCNN1G_000075 3/12994 3/8600 0/4394
1 c.1176+14A>G r.(=) p.(=) g.23221183A>G Copied from the Exome Variant Server SCNN1G_000076 9812/12994 6936/8600 2876/4394
1 c.1176+50G>A r.(=) p.(=) g.23221219G>A Copied from the Exome Variant Server SCNN1G_000077 1/12994 1/8600 0/4394
1 c.1272C>A r.(?) p.(Asn424Lys) g.23223450C>A Copied from the Exome Variant Server SCNN1G_000078 1/12994 1/8600 0/4394
1 c.1281G>T r.(?) p.(Gln427His) g.23223459G>T Copied from the Exome Variant Server SCNN1G_000079 1/12994 1/8600 0/4394
1 c.1294+40C>G r.(=) p.(=) g.23223512C>G Copied from the Exome Variant Server SCNN1G_000080 3/12994 3/8600 0/4394
1 c.1295-47G>T r.(=) p.(=) g.23223952G>T Copied from the Exome Variant Server SCNN1G_000081 3/12994 3/8600 0/4394
1 c.1295-44C>T r.(=) p.(=) g.23223955C>T Copied from the Exome Variant Server SCNN1G_000082 1/12994 1/8600 0/4394
1 c.1295-23C>T r.(=) p.(=) g.23223976C>T Copied from the Exome Variant Server SCNN1G_000083 1/12992 1/8600 0/4392
1 c.1373+16G>A r.(=) p.(=) g.23224093G>A Copied from the Exome Variant Server SCNN1G_000084 2/12994 1/8600 1/4394
1 c.1373+25C>A r.(=) p.(=) g.23224102C>A Copied from the Exome Variant Server SCNN1G_000085 1/12994 0/8600 1/4394
1 c.1373+29T>C r.(=) p.(=) g.23224106T>C Copied from the Exome Variant Server SCNN1G_000086 3029/12994 1926/8600 1103/4394
1 c.1374-40G>A r.(=) p.(=) g.23224118G>A Copied from the Exome Variant Server SCNN1G_000087 1/12994 1/8600 0/4394
1 c.1428G>A r.(=) p.(=) g.23224212G>A Copied from the Exome Variant Server SCNN1G_000088 4/12994 3/8600 1/4394
1 c.1431+28C>A r.(=) p.(=) g.23224243C>A Copied from the Exome Variant Server SCNN1G_000089 2/12994 1/8600 1/4394
1 c.1432-68C>G r.(=) p.(=) g.23224355C>G Copied from the Exome Variant Server SCNN1G_000090 1/4566 0/3182 1/1384
1 c.1432-61C>T r.(=) p.(=) g.23224362C>T Copied from the Exome Variant Server SCNN1G_000091 1/4566 1/3182 0/1384
1 c.1432-8C>T r.(=) p.(=) g.23224415C>T Copied from the Exome Variant Server SCNN1G_000092 1/12994 1/8600 0/4394
1 c.1432-7G>A r.(=) p.(=) g.23224416G>A Copied from the Exome Variant Server SCNN1G_000093 3030/12994 1926/8600 1104/4394
1 c.1452C>A r.(=) p.(=) g.23224443C>A Copied from the Exome Variant Server SCNN1G_000094 15/12994 0/8600 15/4394
1 c.1476A>G r.(=) p.(=) g.23224467A>G Copied from the Exome Variant Server SCNN1G_000095 6/12994 6/8600 0/4394
1 c.1493+33T>G r.(=) p.(=) g.23224517T>G Copied from the Exome Variant Server SCNN1G_000096 3030/12994 1926/8600 1104/4394
1 c.1493+44C>T r.(=) p.(=) g.23224528C>T Copied from the Exome Variant Server SCNN1G_000097 1/12994 1/8600 0/4394
1 c.1494-49A>G r.(=) p.(=) g.23225984A>G Copied from the Exome Variant Server SCNN1G_000098 3030/12994 1926/8600 1104/4394
1 c.1494-30G>A r.(=) p.(=) g.23226003G>A Copied from the Exome Variant Server SCNN1G_000099 1/12994 1/8600 0/4394
1 c.1494-18C>T r.(=) p.(=) g.23226015C>T Copied from the Exome Variant Server SCNN1G_000100 1/12994 1/8600 0/4394
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