Full data view for gene SCNN1D

Information The variants shown are described using the NM_001130413.3 transcript reference sequence.

299 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.357_358del r.(?) p.(Gly121Leufs*151) g.1219363_1219364del Copied from the Exome Variant Server SCNN1D_000001 6/11714 0/7780 6/3934 - - - - - - -
?/? c.376C>G r.(?) p.(Gln126Glu) g.1219382C>G Copied from the Exome Variant Server SCNN1D_000002 182/12278 4/8164 178/4114 - - - - - - -
?/? c.396G>T r.(=) p.(=) g.1219402G>T Copied from the Exome Variant Server SCNN1D_000003 2/12416 2/8262 0/4154 - - - - - - -
?/? c.445del r.(?) p.(Ala151Leufs*18) g.1219451del Copied from the Exome Variant Server SCNN1D_000004 22/10514 13/7092 9/3422 - - - - - - -
?/? c.447G>C r.(=) p.(=) g.1219453G>C Copied from the Exome Variant Server SCNN1D_000005 1/11382 0/7674 1/3708 - - - - - - -
?/? c.464+17del r.(=) p.(=) g.1219487del Copied from the Exome Variant Server SCNN1D_000006 199/4518 112/3344 87/1174 - - - - - - -
?/? c.468G>A r.(=) p.(=) g.1220954G>A Copied from the Exome Variant Server SCNN1D_000007 961/4560 112/3176 849/1384 - - - - - - -
?/? c.515A>G r.(?) p.(Gln172Arg) g.1221001A>G Copied from the Exome Variant Server SCNN1D_000008 281/4562 6/3178 275/1384 - - - - - - -
?/? c.559-30C>T r.(=) p.(=) g.1221276C>T Copied from the Exome Variant Server SCNN1D_000009 225/12080 6/8030 219/4050 - - - - - - -
?/? c.559-4A>G r.spl? p.? g.1221302A>G Copied from the Exome Variant Server SCNN1D_000010 401/12286 8/8164 393/4122 - - - - - - -
?/? c.585G>A r.(=) p.(=) g.1221332G>A Copied from the Exome Variant Server SCNN1D_000011 2/12462 2/8290 0/4172 - - - - - - -
?/? c.599_601del r.(?) p.(Pro205del) g.1221346_1221348del Copied from the Exome Variant Server SCNN1D_000012 46/11786 38/7824 8/3962 - - - - - - -
?/? c.635G>C r.(?) p.(Gly212Ala) g.1221382G>C Copied from the Exome Variant Server SCNN1D_000013 1/12626 0/8382 1/4244 - - - - - - -
?/? c.662G>A r.(?) p.(Arg221Gln) g.1221409G>A Copied from the Exome Variant Server SCNN1D_000014 10/12798 10/8496 0/4302 - - - - - - -
?/? c.675C>G r.(=) p.(=) g.1221422C>G Copied from the Exome Variant Server SCNN1D_000015 1/12874 0/8548 1/4326 - - - - - - -
?/? c.712C>T r.(?) p.(Arg238Cys) g.1221459C>T Copied from the Exome Variant Server SCNN1D_000016 3/12906 2/8562 1/4344 - - - - - - -
?/? c.713G>A r.(?) p.(Arg238His) g.1221460G>A Copied from the Exome Variant Server SCNN1D_000017 16/12906 0/8562 16/4344 - - - - - - -
?/? c.728G>A r.(?) p.(Arg243His) g.1221475G>A Copied from the Exome Variant Server SCNN1D_000018 3/12908 0/8562 3/4346 - - - - - - -
?/? c.729C>T r.(=) p.(=) g.1221476C>T Copied from the Exome Variant Server SCNN1D_000019 4/12908 0/8562 4/4346 - - - - - - -
?/? c.730G>A r.(?) p.(Gly244Arg) g.1221477G>A Copied from the Exome Variant Server SCNN1D_000020 1/12912 1/8562 0/4350 - - - - - - -
?/? c.742_743del r.(?) p.(Lys248Aspfs*24) g.1221489_1221490del Copied from the Exome Variant Server SCNN1D_000021 8/12432 8/8218 0/4214 - - - - - - -
?/? c.746C>T r.(?) p.(Thr249Met) g.1221493C>T Copied from the Exome Variant Server SCNN1D_000022 1/12920 0/8562 1/4358 - - - - - - -
?/? c.749C>T r.(?) p.(Thr250Met) g.1221496C>T Copied from the Exome Variant Server SCNN1D_000023 5/12922 1/8564 4/4358 - - - - - - -
?/? c.750G>A r.(=) p.(=) g.1221497G>A Copied from the Exome Variant Server SCNN1D_000024 1/12922 0/8564 1/4358 - - - - - - -
?/? c.783C>T r.(=) p.(=) g.1221530C>T Copied from the Exome Variant Server SCNN1D_000025 16/12916 0/8560 16/4356 - - - - - - -
?/? c.786G>A r.(=) p.(=) g.1221533G>A Copied from the Exome Variant Server SCNN1D_000026 2/12918 2/8562 0/4356 - - - - - - -
?/? c.817C>T r.(?) p.(Arg273Cys) g.1221564C>T Copied from the Exome Variant Server SCNN1D_000027 39/12902 0/8554 39/4348 - - - - - - -
?/? c.818G>A r.(?) p.(Arg273His) g.1221565G>A Copied from the Exome Variant Server SCNN1D_000028 1/12904 1/8554 0/4350 - - - - - - -
?/? c.838C>G r.(?) p.(Leu280Val) g.1221585C>G Copied from the Exome Variant Server SCNN1D_000029 1/12908 0/8558 1/4350 - - - - - - -
?/? c.846C>T r.(=) p.(=) g.1221593C>T Copied from the Exome Variant Server SCNN1D_000030 1/12908 0/8556 1/4352 - - - - - - -
?/? c.865C>T r.(?) p.(Arg289Cys) g.1221612C>T Copied from the Exome Variant Server SCNN1D_000031 1/12910 1/8560 0/4350 - - - - - - -
?/? c.866G>A r.(?) p.(Arg289His) g.1221613G>A Copied from the Exome Variant Server SCNN1D_000032 9/12912 0/8562 9/4350 - - - - - - -
?/? c.879G>T r.(=) p.(=) g.1221626G>T Copied from the Exome Variant Server SCNN1D_000033 1/12918 0/8564 1/4354 - - - - - - -
?/? c.897C>T r.(=) p.(=) g.1221644C>T Copied from the Exome Variant Server SCNN1D_000034 6/12896 6/8550 0/4346 - - - - - - -
?/? c.911+42C>T r.(=) p.(=) g.1221700C>T Copied from the Exome Variant Server SCNN1D_000035 7/12688 6/8424 1/4264 - - - - - - -
?/? c.911+53del r.(=) p.(=) g.1221711del Copied from the Exome Variant Server SCNN1D_000036 2/12040 2/7976 0/4064 - - - - - - -
?/? c.912-37G>A r.(=) p.(=) g.1222111G>A Copied from the Exome Variant Server SCNN1D_000037 1/12936 0/8572 1/4364 - - - - - - -
?/? c.912-13C>T r.(=) p.(=) g.1222135C>T Copied from the Exome Variant Server SCNN1D_000038 1/12956 1/8582 0/4374 - - - - - - -
?/? c.912-11C>T r.(=) p.(=) g.1222137C>T Copied from the Exome Variant Server SCNN1D_000039 2/12954 2/8584 0/4370 - - - - - - -
?/? c.912-8C>T r.(=) p.(=) g.1222140C>T Copied from the Exome Variant Server SCNN1D_000040 1/12954 0/8582 1/4372 - - - - - - -
?/? c.912-4C>G r.spl? p.? g.1222144C>G Copied from the Exome Variant Server SCNN1D_000041 4/12954 0/8578 4/4376 - - - - - - -
?/? c.914C>T r.(?) p.(Pro305Leu) g.1222150C>T Copied from the Exome Variant Server SCNN1D_000042 1/12960 0/8580 1/4380 - - - - - - -
?/? c.929G>A r.(?) p.(Arg310His) g.1222165G>A Copied from the Exome Variant Server SCNN1D_000043 2/12966 1/8576 1/4390 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.1222181G>A Copied from the Exome Variant Server SCNN1D_000044 1/12974 1/8580 0/4394 - - - - - - -
?/? c.972C>T r.(=) p.(=) g.1222208C>T Copied from the Exome Variant Server SCNN1D_000045 1/12982 0/8584 1/4398 - - - - - - -
?/? c.982A>T r.(?) p.(Asn328Tyr) g.1222218A>T Copied from the Exome Variant Server SCNN1D_000046 1/12986 0/8586 1/4400 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.1222220C>T Copied from the Exome Variant Server SCNN1D_000047 4/12988 4/8586 0/4402 - - - - - - -
?/? c.985G>A r.(?) p.(Val329Ile) g.1222221G>A Copied from the Exome Variant Server SCNN1D_000048 2/12988 0/8586 2/4402 - - - - - - -
?/? c.1024G>A r.(?) p.(Val342Ile) g.1222260G>A Copied from the Exome Variant Server SCNN1D_000049 1/12972 1/8582 0/4390 - - - - - - -
?/? c.1031G>C r.(?) p.(Arg344Pro) g.1222267G>C Copied from the Exome Variant Server SCNN1D_000050 1151/12974 153/8584 998/4390 - - - - - - -
?/? c.1035C>T r.(=) p.(=) g.1222271C>T Copied from the Exome Variant Server SCNN1D_000051 2/12976 2/8586 0/4390 - - - - - - -
?/? c.1036G>A r.(?) p.(Glu346Lys) g.1222272G>A Copied from the Exome Variant Server SCNN1D_000052 1/12976 1/8586 0/4390 - - - - - - -
?/? c.1043C>G r.(?) p.(Pro348Arg) g.1222279C>G Copied from the Exome Variant Server SCNN1D_000053 16/12978 0/8588 16/4390 - - - - - - -
?/? c.1076G>A r.(?) p.(Arg359Lys) g.1222312G>A Copied from the Exome Variant Server SCNN1D_000054 1/12964 1/8580 0/4384 - - - - - - -
?/? c.1088C>T r.(?) p.(Ser363Leu) g.1222324C>T Copied from the Exome Variant Server SCNN1D_000055 1/12966 1/8580 0/4386 - - - - - - -
?/? c.1089G>A r.(=) p.(=) g.1222325G>A Copied from the Exome Variant Server SCNN1D_000056 1/12962 0/8580 1/4382 - - - - - - -
?/? c.1096C>T r.(?) p.(Arg366Trp) g.1222332C>T Copied from the Exome Variant Server SCNN1D_000057 10/12954 9/8578 1/4376 - - - - - - -
?/? c.1097G>A r.(?) p.(Arg366Gln) g.1222333G>A Copied from the Exome Variant Server SCNN1D_000058 9/12954 8/8578 1/4376 - - - - - - -
?/? c.1115G>A r.(?) p.(Arg372Lys) g.1222351G>A Copied from the Exome Variant Server SCNN1D_000059 1/12946 1/8580 0/4366 - - - - - - -
?/? c.1119+8T>G r.(=) p.(=) g.1222363T>G Copied from the Exome Variant Server SCNN1D_000060 1/12930 0/8576 1/4354 - - - - - - -
?/? c.1119+15C>T r.(=) p.(=) g.1222370C>T Copied from the Exome Variant Server SCNN1D_000061 1/12922 1/8570 0/4352 - - - - - - -
?/? c.1119+27C>T r.(=) p.(=) g.1222382C>T Copied from the Exome Variant Server SCNN1D_000062 1/12924 0/8568 1/4356 - - - - - - -
?/? c.1119+52C>T r.(=) p.(=) g.1222407C>T Copied from the Exome Variant Server SCNN1D_000063 154/7252 6/4600 148/2652 - - - - - - -
?/? c.1120-49C>T r.(=) p.(=) g.1222440C>T Copied from the Exome Variant Server SCNN1D_000064 1/12930 0/8566 1/4364 - - - - - - -
?/? c.1120-48G>A r.(=) p.(=) g.1222441G>A Copied from the Exome Variant Server SCNN1D_000065 1/12930 0/8566 1/4364 - - - - - - -
?/? c.1120-3C>T r.spl? p.? g.1222486C>T Copied from the Exome Variant Server SCNN1D_000066 2/12968 0/8578 2/4390 - - - - - - -
?/? c.1128_1129del r.(?) p.(Thr377Glyfs*98) g.1222497_1222498del Copied from the Exome Variant Server SCNN1D_000067 44/12486 42/8234 2/4252 - - - - - - -
?/? c.1130C>T r.(?) p.(Thr377Met) g.1222499C>T Copied from the Exome Variant Server SCNN1D_000068 2/12970 1/8580 1/4390 - - - - - - -
?/? c.1134C>T r.(=) p.(=) g.1222503C>T Copied from the Exome Variant Server SCNN1D_000069 17/12974 2/8582 15/4392 - - - - - - -
?/? c.1135G>A r.(?) p.(Gly379Ser) g.1222504G>A Copied from the Exome Variant Server SCNN1D_000070 1/12972 1/8582 0/4390 - - - - - - -
?/? c.1136G>A r.(?) p.(Gly379Asp) g.1222505G>A Copied from the Exome Variant Server SCNN1D_000071 1/12970 1/8580 0/4390 - - - - - - -
?/? c.1137C>T r.(=) p.(=) g.1222506C>T Copied from the Exome Variant Server SCNN1D_000072 27/12968 27/8580 0/4388 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.1222509C>T Copied from the Exome Variant Server SCNN1D_000073 1/12968 1/8578 0/4390 - - - - - - -
?/? c.1146T>C r.(=) p.(=) g.1222515T>C Copied from the Exome Variant Server SCNN1D_000074 3/12970 0/8578 3/4392 - - - - - - -
?/? c.1150C>T r.(?) p.(Arg384*) g.1222519C>T Copied from the Exome Variant Server SCNN1D_000075 8/12974 0/8578 8/4396 - - - - - - -
?/? c.1159A>T r.(?) p.(Thr387Ser) g.1222528A>T Copied from the Exome Variant Server SCNN1D_000076 5/12974 5/8578 0/4396 - - - - - - -
?/? c.1160C>T r.(?) p.(Thr387Met) g.1222529C>T Copied from the Exome Variant Server SCNN1D_000077 11/12972 0/8578 11/4394 - - - - - - -
?/? c.1167C>T r.(=) p.(=) g.1222536C>T Copied from the Exome Variant Server SCNN1D_000078 1/12974 0/8580 1/4394 - - - - - - -
?/? c.1172C>T r.(?) p.(Ala391Val) g.1222541C>T Copied from the Exome Variant Server SCNN1D_000079 1/12974 1/8578 0/4396 - - - - - - -
?/? c.1173G>A r.(=) p.(=) g.1222542G>A Copied from the Exome Variant Server SCNN1D_000080 1/12968 1/8574 0/4394 - - - - - - -
?/? c.1182G>A r.(=) p.(=) g.1222551G>A Copied from the Exome Variant Server SCNN1D_000081 1/12970 1/8578 0/4392 - - - - - - -
?/? c.1185C>G r.(?) p.(Asp395Glu) g.1222554C>G Copied from the Exome Variant Server SCNN1D_000082 1/12970 0/8578 1/4392 - - - - - - -
?/? c.1198C>T r.(?) p.(His400Tyr) g.1222567C>T Copied from the Exome Variant Server SCNN1D_000083 3/12962 0/8578 3/4384 - - - - - - -
?/? c.1227C>T r.(=) p.(=) g.1222596C>T Copied from the Exome Variant Server SCNN1D_000084 6/12944 5/8572 1/4372 - - - - - - -
?/? c.1229C>T r.(?) p.(Ala410Val) g.1222598C>T Copied from the Exome Variant Server SCNN1D_000085 375/12936 3/8570 372/4366 - - - - - - -
?/? c.1261G>A r.(?) p.(Gly421Ser) g.1222630G>A Copied from the Exome Variant Server SCNN1D_000086 2/12866 2/8518 0/4348 - - - - - - -
?/? c.1278C>A r.(=) p.(=) g.1222647C>A Copied from the Exome Variant Server SCNN1D_000087 3/12882 3/8532 0/4350 - - - - - - -
?/? c.1287C>T r.(=) p.(=) g.1222656C>T Copied from the Exome Variant Server SCNN1D_000088 8/12882 5/8532 3/4350 - - - - - - -
?/? c.1288G>A r.(?) p.(Asp430Asn) g.1222657G>A Copied from the Exome Variant Server SCNN1D_000089 30/12878 23/8534 7/4344 - - - - - - -
?/? c.1310+11C>T r.(=) p.(=) g.1222690C>T Copied from the Exome Variant Server SCNN1D_000090 504/12790 461/8480 43/4310 - - - - - - -
?/? c.1310+15C>T r.(=) p.(=) g.1222694C>T Copied from the Exome Variant Server SCNN1D_000091 32/12768 2/8462 30/4306 - - - - - - -
?/? c.1310+16G>C r.(=) p.(=) g.1222695G>C Copied from the Exome Variant Server SCNN1D_000092 1621/12774 283/8464 1338/4310 - - - - - - -
?/? c.1310+31C>T r.(=) p.(=) g.1222710C>T Copied from the Exome Variant Server SCNN1D_000093 1/12778 1/8482 0/4296 - - - - - - -
?/? c.1310+48C>T r.(=) p.(=) g.1222727C>T Copied from the Exome Variant Server SCNN1D_000094 3/12686 3/8424 0/4262 - - - - - - -
?/? c.1310+49G>A r.(=) p.(=) g.1222728G>A Copied from the Exome Variant Server SCNN1D_000095 2/12690 0/8428 2/4262 - - - - - - -
?/? c.1311-50C>T r.(=) p.(=) g.1222838C>T Copied from the Exome Variant Server SCNN1D_000096 10/12940 4/8570 6/4370 - - - - - - -
?/? c.1311-46C>T r.(=) p.(=) g.1222842C>T Copied from the Exome Variant Server SCNN1D_000097 37/12950 35/8576 2/4374 - - - - - - -
?/? c.1311-45G>A r.(=) p.(=) g.1222843G>A Copied from the Exome Variant Server SCNN1D_000098 3/12952 0/8578 3/4374 - - - - - - -
?/? c.1311-44C>A r.(=) p.(=) g.1222844C>A Copied from the Exome Variant Server SCNN1D_000099 24/12956 0/8582 24/4374 - - - - - - -
?/? c.1311-40del r.(=) p.(=) g.1222848del Copied from the Exome Variant Server SCNN1D_000100 3/12470 3/8238 0/4232 - - - - - - -
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