| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086476A>C | CA413185329 | CLCN5 | c.1163A>C (p.Glu388Ala) c.413A>C (p.Glu138Ala) c.953A>C (p.Glu318Ala) c.1450A>C c.*338A>C (n.*338A>C) c.1013A>C (p.Glu338Ala) c.1175A>C (p.Glu392Ala) | |
| X | g.50086476A>G | CA413185330 | CLCN5 | c.1163A>G (p.Glu388Gly) c.413A>G (p.Glu138Gly) c.953A>G (p.Glu318Gly) c.1450A>G c.*338A>G (n.*338A>G) c.1013A>G (p.Glu338Gly) c.1175A>G (p.Glu392Gly) | |
| X | g.50086476A>T | CA413185331 | CLCN5 | c.1163A>T (p.Glu388Val) c.413A>T (p.Glu138Val) c.953A>T (p.Glu318Val) c.1450A>T c.*338A>T (n.*338A>T) c.1013A>T (p.Glu338Val) c.1175A>T (p.Glu392Val) | |
| X | g.50086477G>A | CA516678309 | CLCN5 | c.1164G>A (p.Glu388=) c.414G>A (p.Glu138=) c.954G>A (p.Glu318=) c.1451G>A c.*339G>A (n.*339G>A) c.1014G>A (p.Glu338=) c.1176G>A (p.Glu392=) | dbSNP gnomAD v4 |
| X | g.50086477G>C | CA413185332 | CLCN5 | c.1164G>C (p.Glu388Asp) c.414G>C (p.Glu138Asp) c.954G>C (p.Glu318Asp) c.1451G>C c.*339G>C (n.*339G>C) c.1014G>C (p.Glu338Asp) c.1176G>C (p.Glu392Asp) | |
| X | g.50086477G= | CA2428768879 | CLCN5 | c.1164G= (p.Glu388=) c.414G= (p.Glu138=) c.954G= (p.Glu318=) c.1451G= c.*339G= (n.*339G=) c.1014G= (p.Glu338=) c.1176G= (p.Glu392=) | |
| X | g.50086477G>T | CA413185333 | CLCN5 | c.1164G>T (p.Glu388Asp) c.414G>T (p.Glu138Asp) c.954G>T (p.Glu318Asp) c.1451G>T c.*339G>T (n.*339G>T) c.1014G>T (p.Glu338Asp) c.1176G>T (p.Glu392Asp) | COSMIC COSMIC |
| X | g.50086478C>A | CA413185334 | CLCN5 | c.1165C>A (p.Leu389Ile) c.415C>A (p.Leu139Ile) c.955C>A (p.Leu319Ile) c.1452C>A c.*340C>A (n.*340C>A) c.1015C>A (p.Leu339Ile) c.1177C>A (p.Leu393Ile) | |
| X | g.50086478C>G | CA413185335 | CLCN5 | c.1165C>G (p.Leu389Val) c.415C>G (p.Leu139Val) c.955C>G (p.Leu319Val) c.1452C>G c.*340C>G (n.*340C>G) c.1015C>G (p.Leu339Val) c.1177C>G (p.Leu393Val) | |
| X | g.50086478C>T | CA413185336 | CLCN5 | c.1165C>T (p.Leu389Phe) c.415C>T (p.Leu139Phe) c.955C>T (p.Leu319Phe) c.1452C>T c.*340C>T (n.*340C>T) c.1015C>T (p.Leu339Phe) c.1177C>T (p.Leu393Phe) | |
| X | g.50086479T>A | CA413185337 | CLCN5 | c.1166T>A (p.Leu389His) c.416T>A (p.Leu139His) c.956T>A (p.Leu319His) c.1453T>A c.*341T>A (n.*341T>A) c.1016T>A (p.Leu339His) c.1178T>A (p.Leu393His) | |
| X | g.50086479T>C | CA413185339 | CLCN5 | c.1166T>C (p.Leu389Pro) c.416T>C (p.Leu139Pro) c.956T>C (p.Leu319Pro) c.1453T>C c.*341T>C (n.*341T>C) c.1016T>C (p.Leu339Pro) c.1178T>C (p.Leu393Pro) | |
| X | g.50086479T>G | CA413185338 | CLCN5 | c.1166T>G (p.Leu389Arg) c.416T>G (p.Leu139Arg) c.956T>G (p.Leu319Arg) c.1453T>G c.*341T>G (n.*341T>G) c.1016T>G (p.Leu339Arg) c.1178T>G (p.Leu393Arg) | |
| X | g.50086480C>A | CA516678317 | CLCN5 | c.1167C>A (p.Leu389=) c.417C>A (p.Leu139=) c.957C>A (p.Leu319=) c.1454C>A c.*342C>A (n.*342C>A) c.1017C>A (p.Leu339=) c.1179C>A (p.Leu393=) | |
| X | g.50086480C= | CA2428768880 | CLCN5 | c.1167C= (p.Leu389=) c.417C= (p.Leu139=) c.957C= (p.Leu319=) c.1454C= c.*342C= (n.*342C=) c.1017C= (p.Leu339=) c.1179C= (p.Leu393=) | |
| X | g.50086480C>G | CA516678319 | CLCN5 | c.1167C>G (p.Leu389=) c.417C>G (p.Leu139=) c.957C>G (p.Leu319=) c.1454C>G c.*342C>G (n.*342C>G) c.1017C>G (p.Leu339=) c.1179C>G (p.Leu393=) | |
| X | g.50086480C>T | CA10413844 | CLCN5 | c.1167C>T (p.Leu389=) c.417C>T (p.Leu139=) c.957C>T (p.Leu319=) c.1454C>T c.*342C>T (n.*342C>T) c.1017C>T (p.Leu339=) c.1179C>T (p.Leu393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086481G>A | CA10413845 | CLCN5 | c.1168G>A (p.Val390Met) c.418G>A (p.Val140Met) c.958G>A (p.Val320Met) c.1455G>A c.*343G>A (n.*343G>A) c.1018G>A (p.Val340Met) c.1180G>A (p.Val394Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086481G>C | CA413185340 | CLCN5 | c.1168G>C (p.Val390Leu) c.418G>C (p.Val140Leu) c.958G>C (p.Val320Leu) c.1455G>C c.*343G>C (n.*343G>C) c.1018G>C (p.Val340Leu) c.1180G>C (p.Val394Leu) | |
| X | g.50086481G= | CA2428768881 | CLCN5 | c.1168G= (p.Val390=) c.418G= (p.Val140=) c.958G= (p.Val320=) c.1455G= c.*343G= (n.*343G=) c.1018G= (p.Val340=) c.1180G= (p.Val394=) | |
| X | g.50086481G>T | CA413185341 | CLCN5 | c.1168G>T (p.Val390Leu) c.418G>T (p.Val140Leu) c.958G>T (p.Val320Leu) c.1455G>T c.*343G>T (n.*343G>T) c.1018G>T (p.Val340Leu) c.1180G>T (p.Val394Leu) | |
| X | g.50086482T>A | CA413185342 | CLCN5 | c.1169T>A (p.Val390Glu) c.419T>A (p.Val140Glu) c.959T>A (p.Val320Glu) c.1456T>A c.*344T>A (n.*344T>A) c.1019T>A (p.Val340Glu) c.1181T>A (p.Val394Glu) | |
| X | g.50086482T>C | CA413185343 | CLCN5 | c.1169T>C (p.Val390Ala) c.419T>C (p.Val140Ala) c.959T>C (p.Val320Ala) c.1456T>C c.*344T>C (n.*344T>C) c.1019T>C (p.Val340Ala) c.1181T>C (p.Val394Ala) | |
| X | g.50086482T>G | CA413185344 | CLCN5 | c.1169T>G (p.Val390Gly) c.419T>G (p.Val140Gly) c.959T>G (p.Val320Gly) c.1456T>G c.*344T>G (n.*344T>G) c.1019T>G (p.Val340Gly) c.1181T>G (p.Val394Gly) | |
| X | g.50086483G>A | CA516678324 | CLCN5 | c.1170G>A (p.Val390=) c.420G>A (p.Val140=) c.960G>A (p.Val320=) c.1457G>A c.*345G>A (n.*345G>A) c.1020G>A (p.Val340=) c.1182G>A (p.Val394=) | |
| X | g.50086483G>C | CA516678326 | CLCN5 | c.1170G>C (p.Val390=) c.420G>C (p.Val140=) c.960G>C (p.Val320=) c.1457G>C c.*345G>C (n.*345G>C) c.1020G>C (p.Val340=) c.1182G>C (p.Val394=) | |
| X | g.50086483G>T | CA516678327 | CLCN5 | c.1170G>T (p.Val390=) c.420G>T (p.Val140=) c.960G>T (p.Val320=) c.1457G>T c.*345G>T (n.*345G>T) c.1020G>T (p.Val340=) c.1182G>T (p.Val394=) | |
| X | g.50086484C>A | CA413185345 | CLCN5 | c.1171C>A (p.Pro391Thr) c.421C>A (p.Pro141Thr) c.961C>A (p.Pro321Thr) c.1458C>A c.*346C>A (n.*346C>A) c.1021C>A (p.Pro341Thr) c.1183C>A (p.Pro395Thr) | |
| X | g.50086484C>G | CA413185346 | CLCN5 | c.1171C>G (p.Pro391Ala) c.421C>G (p.Pro141Ala) c.961C>G (p.Pro321Ala) c.1458C>G c.*346C>G (n.*346C>G) c.1021C>G (p.Pro341Ala) c.1183C>G (p.Pro395Ala) | |
| X | g.50086484C>T | CA413185347 | CLCN5 | c.1171C>T (p.Pro391Ser) c.421C>T (p.Pro141Ser) c.961C>T (p.Pro321Ser) c.1458C>T c.*346C>T (n.*346C>T) c.1021C>T (p.Pro341Ser) c.1183C>T (p.Pro395Ser) | |
| X | g.50086485C>A | CA413185350 | CLCN5 | c.1172C>A (p.Pro391Gln) c.422C>A (p.Pro141Gln) c.962C>A (p.Pro321Gln) c.1459C>A c.*347C>A (n.*347C>A) c.1022C>A (p.Pro341Gln) c.1184C>A (p.Pro395Gln) | |
| X | g.50086485C>G | CA413185349 | CLCN5 | c.1172C>G (p.Pro391Arg) c.422C>G (p.Pro141Arg) c.962C>G (p.Pro321Arg) c.1459C>G c.*347C>G (n.*347C>G) c.1022C>G (p.Pro341Arg) c.1184C>G (p.Pro395Arg) | |
| X | g.50086485C>T | CA413185348 | CLCN5 | c.1172C>T (p.Pro391Leu) c.422C>T (p.Pro141Leu) c.962C>T (p.Pro321Leu) c.1459C>T c.*347C>T (n.*347C>T) c.1022C>T (p.Pro341Leu) c.1184C>T (p.Pro395Leu) | |
| X | g.50086486A>C | CA516678334 | CLCN5 | c.1173A>C (p.Pro391=) c.423A>C (p.Pro141=) c.963A>C (p.Pro321=) c.1460A>C c.*348A>C (n.*348A>C) c.1023A>C (p.Pro341=) c.1185A>C (p.Pro395=) | |
| X | g.50086486A>G | CA516678336 | CLCN5 | c.1173A>G (p.Pro391=) c.423A>G (p.Pro141=) c.963A>G (p.Pro321=) c.1460A>G c.*348A>G (n.*348A>G) c.1023A>G (p.Pro341=) c.1185A>G (p.Pro395=) | |
| X | g.50086486A>T | CA516678338 | CLCN5 | c.1173A>T (p.Pro391=) c.423A>T (p.Pro141=) c.963A>T (p.Pro321=) c.1460A>T c.*348A>T (n.*348A>T) c.1023A>T (p.Pro341=) c.1185A>T (p.Pro395=) | |
| X | g.50086487T>A | CA413185351 | CLCN5 | c.1174T>A (p.Phe392Ile) c.424T>A (p.Phe142Ile) c.964T>A (p.Phe322Ile) c.1461T>A c.*349T>A (n.*349T>A) c.1024T>A (p.Phe342Ile) c.1186T>A (p.Phe396Ile) | |
| X | g.50086487T>C | CA413185353 | CLCN5 | c.1174T>C (p.Phe392Leu) c.424T>C (p.Phe142Leu) c.964T>C (p.Phe322Leu) c.1461T>C c.*349T>C (n.*349T>C) c.1024T>C (p.Phe342Leu) c.1186T>C (p.Phe396Leu) | |
| X | g.50086487T>G | CA413185352 | CLCN5 | c.1174T>G (p.Phe392Val) c.424T>G (p.Phe142Val) c.964T>G (p.Phe322Val) c.1461T>G c.*349T>G (n.*349T>G) c.1024T>G (p.Phe342Val) c.1186T>G (p.Phe396Val) | |
| X | g.50086488T>A | CA413185354 | CLCN5 | c.1175T>A (p.Phe392Tyr) c.425T>A (p.Phe142Tyr) c.965T>A (p.Phe322Tyr) c.1462T>A c.*350T>A (n.*350T>A) c.1025T>A (p.Phe342Tyr) c.1187T>A (p.Phe396Tyr) | |
| X | g.50086488T>C | CA413185355 | CLCN5 | c.1175T>C (p.Phe392Ser) c.425T>C (p.Phe142Ser) c.965T>C (p.Phe322Ser) c.1462T>C c.*350T>C (n.*350T>C) c.1025T>C (p.Phe342Ser) c.1187T>C (p.Phe396Ser) | |
| X | g.50086488T>G | CA413185356 | CLCN5 | c.1175T>G (p.Phe392Cys) c.425T>G (p.Phe142Cys) c.965T>G (p.Phe322Cys) c.1462T>G c.*350T>G (n.*350T>G) c.1025T>G (p.Phe342Cys) c.1187T>G (p.Phe396Cys) | |
| X | g.50086488_50086489delinsTC | CA2428768882 | CLCN5 | c.1175_1176delinsTC (p.Phe392=) c.425_426delinsTC (p.Phe142=) c.965_966delinsTC (p.Phe322=) c.1462_1463delinsTC c.*350_*351delinsTC (n.*350_*351delinsTC) c.1025_1026delinsTC (p.Phe342=) c.1187_1188delinsTC (p.Phe396=) | |
| X | g.50086489del | CA1139667540 | CLCN5 | c.1176del (p.Phe392LeufsTer?) c.426del (p.Phe142LeufsTer?) c.966del (p.Phe322LeufsTer?) c.1463del c.*351del (n.*351del) c.1026del (p.Phe342LeufsTer?) c.1188del (p.Phe396LeufsTer?) | ClinVar dbSNP |
| X | g.50086489C>A | CA413185357 | CLCN5 | c.1176C>A (p.Phe392Leu) c.426C>A (p.Phe142Leu) c.966C>A (p.Phe322Leu) c.1463C>A c.*351C>A (n.*351C>A) c.1026C>A (p.Phe342Leu) c.1188C>A (p.Phe396Leu) | |
| X | g.50086489C>G | CA413185358 | CLCN5 | c.1176C>G (p.Phe392Leu) c.426C>G (p.Phe142Leu) c.966C>G (p.Phe322Leu) c.1463C>G c.*351C>G (n.*351C>G) c.1026C>G (p.Phe342Leu) c.1188C>G (p.Phe396Leu) | |
| X | g.50086489C>T | CA516678344 | CLCN5 | c.1176C>T (p.Phe392=) c.426C>T (p.Phe142=) c.966C>T (p.Phe322=) c.1463C>T c.*351C>T (n.*351C>T) c.1026C>T (p.Phe342=) c.1188C>T (p.Phe396=) | |
| X | g.50086490A= | CA2428768883 | CLCN5 | c.1177A= (p.Ile393=) c.427A= (p.Ile143=) c.967A= (p.Ile323=) c.1464A= c.*352A= (n.*352A=) c.1027A= (p.Ile343=) c.1189A= (p.Ile397=) | |
| X | g.50086490A>C | CA413185359 | CLCN5 | c.1177A>C (p.Ile393Leu) c.427A>C (p.Ile143Leu) c.967A>C (p.Ile323Leu) c.1464A>C c.*352A>C (n.*352A>C) c.1027A>C (p.Ile343Leu) c.1189A>C (p.Ile397Leu) | |
| X | g.50086490A>G | CA413185360 | CLCN5 | c.1177A>G (p.Ile393Val) c.427A>G (p.Ile143Val) c.967A>G (p.Ile323Val) c.1464A>G c.*352A>G (n.*352A>G) c.1027A>G (p.Ile343Val) c.1189A>G (p.Ile397Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086490A>T | CA413185361 | CLCN5 | c.1177A>T (p.Ile393Phe) c.427A>T (p.Ile143Phe) c.967A>T (p.Ile323Phe) c.1464A>T c.*352A>T (n.*352A>T) c.1027A>T (p.Ile343Phe) c.1189A>T (p.Ile397Phe) | |
| X | g.50086491T>A | CA413185362 | CLCN5 | c.1178T>A (p.Ile393Asn) c.428T>A (p.Ile143Asn) c.968T>A (p.Ile323Asn) c.1465T>A c.*353T>A (n.*353T>A) c.1028T>A (p.Ile343Asn) c.1190T>A (p.Ile397Asn) | |
| X | g.50086491T>C | CA413185363 | CLCN5 | c.1178T>C (p.Ile393Thr) c.428T>C (p.Ile143Thr) c.968T>C (p.Ile323Thr) c.1465T>C c.*353T>C (n.*353T>C) c.1028T>C (p.Ile343Thr) c.1190T>C (p.Ile397Thr) | |
| X | g.50086491T>G | CA413185364 | CLCN5 | c.1178T>G (p.Ile393Ser) c.428T>G (p.Ile143Ser) c.968T>G (p.Ile323Ser) c.1465T>G c.*353T>G (n.*353T>G) c.1028T>G (p.Ile343Ser) c.1190T>G (p.Ile397Ser) | |
| X | g.50086492T>A | CA516678350 | CLCN5 | c.1179T>A (p.Ile393=) c.429T>A (p.Ile143=) c.969T>A (p.Ile323=) c.1466T>A c.*354T>A (n.*354T>A) c.1029T>A (p.Ile343=) c.1191T>A (p.Ile397=) | |
| X | g.50086492T>C | CA516678351 | CLCN5 | c.1179T>C (p.Ile393=) c.429T>C (p.Ile143=) c.969T>C (p.Ile323=) c.1466T>C c.*354T>C (n.*354T>C) c.1029T>C (p.Ile343=) c.1191T>C (p.Ile397=) | |
| X | g.50086492T>G | CA413185365 | CLCN5 | c.1179T>G (p.Ile393Met) c.429T>G (p.Ile143Met) c.969T>G (p.Ile323Met) c.1466T>G c.*354T>G (n.*354T>G) c.1029T>G (p.Ile343Met) c.1191T>G (p.Ile397Met) | |
| X | g.50086493C>A | CA413185366 | CLCN5 | c.1180C>A (p.Leu394Met) c.430C>A (p.Leu144Met) c.970C>A (p.Leu324Met) c.1467C>A c.*355C>A (n.*355C>A) c.1030C>A (p.Leu344Met) c.1192C>A (p.Leu398Met) | |
| X | g.50086493C= | CA2428768884 | CLCN5 | c.1180C= (p.Leu394=) c.430C= (p.Leu144=) c.970C= (p.Leu324=) c.1467C= c.*355C= (n.*355C=) c.1030C= (p.Leu344=) c.1192C= (p.Leu398=) | |
| X | g.50086493C>G | CA413185367 | CLCN5 | c.1180C>G (p.Leu394Val) c.430C>G (p.Leu144Val) c.970C>G (p.Leu324Val) c.1467C>G c.*355C>G (n.*355C>G) c.1030C>G (p.Leu344Val) c.1192C>G (p.Leu398Val) | dbSNP |
| X | g.50086493C>T | CA516678356 | CLCN5 | c.1180C>T (p.Leu394=) c.430C>T (p.Leu144=) c.970C>T (p.Leu324=) c.1467C>T c.*355C>T (n.*355C>T) c.1030C>T (p.Leu344=) c.1192C>T (p.Leu398=) | |
| X | g.50086494T>A | CA413185368 | CLCN5 | c.1181T>A (p.Leu394Gln) c.431T>A (p.Leu144Gln) c.971T>A (p.Leu324Gln) c.1468T>A c.*356T>A (n.*356T>A) c.1031T>A (p.Leu344Gln) c.1193T>A (p.Leu398Gln) | gnomAD v4 |
| X | g.50086494T>C | CA413185369 | CLCN5 | c.1181T>C (p.Leu394Pro) c.431T>C (p.Leu144Pro) c.971T>C (p.Leu324Pro) c.1468T>C c.*356T>C (n.*356T>C) c.1031T>C (p.Leu344Pro) c.1193T>C (p.Leu398Pro) | |
| X | g.50086494T>G | CA413185370 | CLCN5 | c.1181T>G (p.Leu394Arg) c.431T>G (p.Leu144Arg) c.971T>G (p.Leu324Arg) c.1468T>G c.*356T>G (n.*356T>G) c.1031T>G (p.Leu344Arg) c.1193T>G (p.Leu398Arg) | |
| X | g.50086495G>A | CA516678363 | CLCN5 | c.1182G>A (p.Leu394=) c.432G>A (p.Leu144=) c.972G>A (p.Leu324=) c.1469G>A c.*357G>A (n.*357G>A) c.1032G>A (p.Leu344=) c.1194G>A (p.Leu398=) | |
| X | g.50086495G>C | CA516678365 | CLCN5 | c.1182G>C (p.Leu394=) c.432G>C (p.Leu144=) c.972G>C (p.Leu324=) c.1469G>C c.*357G>C (n.*357G>C) c.1032G>C (p.Leu344=) c.1194G>C (p.Leu398=) | |
| X | g.50086495G>T | CA516678367 | CLCN5 | c.1182G>T (p.Leu394=) c.432G>T (p.Leu144=) c.972G>T (p.Leu324=) c.1469G>T c.*357G>T (n.*357G>T) c.1032G>T (p.Leu344=) c.1194G>T (p.Leu398=) | |
| X | g.50086496C>A | CA413185371 | CLCN5 | c.1183C>A (p.Leu395Met) c.433C>A (p.Leu145Met) c.973C>A (p.Leu325Met) c.1470C>A c.*358C>A (n.*358C>A) c.1033C>A (p.Leu345Met) c.1195C>A (p.Leu399Met) | |
| X | g.50086496C>G | CA413185372 | CLCN5 | c.1183C>G (p.Leu395Val) c.433C>G (p.Leu145Val) c.973C>G (p.Leu325Val) c.1470C>G c.*358C>G (n.*358C>G) c.1033C>G (p.Leu345Val) c.1195C>G (p.Leu399Val) | |
| X | g.50086496C>T | CA516678370 | CLCN5 | c.1183C>T (p.Leu395=) c.433C>T (p.Leu145=) c.973C>T (p.Leu325=) c.1470C>T c.*358C>T (n.*358C>T) c.1033C>T (p.Leu345=) c.1195C>T (p.Leu399=) | |
| X | g.50086497T>A | CA413185373 | CLCN5 | c.1184T>A (p.Leu395Gln) c.434T>A (p.Leu145Gln) c.974T>A (p.Leu325Gln) c.1471T>A c.*359T>A (n.*359T>A) c.1034T>A (p.Leu345Gln) c.1196T>A (p.Leu399Gln) | |
| X | g.50086497T>C | CA413185374 | CLCN5 | c.1184T>C (p.Leu395Pro) c.434T>C (p.Leu145Pro) c.974T>C (p.Leu325Pro) c.1471T>C c.*359T>C (n.*359T>C) c.1034T>C (p.Leu345Pro) c.1196T>C (p.Leu399Pro) | |
| X | g.50086497T>G | CA413185375 | CLCN5 | c.1184T>G (p.Leu395Arg) c.434T>G (p.Leu145Arg) c.974T>G (p.Leu325Arg) c.1471T>G c.*359T>G (n.*359T>G) c.1034T>G (p.Leu345Arg) c.1196T>G (p.Leu399Arg) | |
| X | g.50086498G>A | CA516678371 | CLCN5 | c.1185G>A (p.Leu395=) c.435G>A (p.Leu145=) c.975G>A (p.Leu325=) c.1472G>A c.*360G>A (n.*360G>A) c.1035G>A (p.Leu345=) c.1197G>A (p.Leu399=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086498G>C | CA516678374 | CLCN5 | c.1185G>C (p.Leu395=) c.435G>C (p.Leu145=) c.975G>C (p.Leu325=) c.1472G>C c.*360G>C (n.*360G>C) c.1035G>C (p.Leu345=) c.1197G>C (p.Leu399=) | |
| X | g.50086498G= | CA2428768885 | CLCN5 | c.1185G= (p.Leu395=) c.435G= (p.Leu145=) c.975G= (p.Leu325=) c.1472G= c.*360G= (n.*360G=) c.1035G= (p.Leu345=) c.1197G= (p.Leu399=) | |
| X | g.50086498G>T | CA516678376 | CLCN5 | c.1185G>T (p.Leu395=) c.435G>T (p.Leu145=) c.975G>T (p.Leu325=) c.1472G>T c.*360G>T (n.*360G>T) c.1035G>T (p.Leu345=) c.1197G>T (p.Leu399=) | |
| X | g.50086500del | CA2695233682 | CLCN5 | c.1187del (p.Gly396AlafsTer?) c.437del (p.Gly146AlafsTer?) c.977del (p.Gly326AlafsTer?) c.1474del c.*362del (n.*362del) c.1037del (p.Gly346AlafsTer?) c.1199del (p.Gly400AlafsTer?) | |
| X | g.50086499G>A | CA413185376 | CLCN5 | c.1186G>A (p.Gly396Ser) c.436G>A (p.Gly146Ser) c.976G>A (p.Gly326Ser) c.1473G>A c.*361G>A (n.*361G>A) c.1036G>A (p.Gly346Ser) c.1198G>A (p.Gly400Ser) | |
| X | g.50086499G>C | CA413185377 | CLCN5 | c.1186G>C (p.Gly396Arg) c.436G>C (p.Gly146Arg) c.976G>C (p.Gly326Arg) c.1473G>C c.*361G>C (n.*361G>C) c.1036G>C (p.Gly346Arg) c.1198G>C (p.Gly400Arg) | |
| X | g.50086499G>T | CA413185378 | CLCN5 | c.1186G>T (p.Gly396Cys) c.436G>T (p.Gly146Cys) c.976G>T (p.Gly326Cys) c.1473G>T c.*361G>T (n.*361G>T) c.1036G>T (p.Gly346Cys) c.1198G>T (p.Gly400Cys) | |
| X | g.50086500G>A | CA413185380 | CLCN5 | c.1187G>A (p.Gly396Asp) c.437G>A (p.Gly146Asp) c.977G>A (p.Gly326Asp) c.1474G>A c.*362G>A (n.*362G>A) c.1037G>A (p.Gly346Asp) c.1199G>A (p.Gly400Asp) | |
| X | g.50086500G>C | CA413185381 | CLCN5 | c.1187G>C (p.Gly396Ala) c.437G>C (p.Gly146Ala) c.977G>C (p.Gly326Ala) c.1474G>C c.*362G>C (n.*362G>C) c.1037G>C (p.Gly346Ala) c.1199G>C (p.Gly400Ala) | |
| X | g.50086500G>T | CA413185379 | CLCN5 | c.1187G>T (p.Gly396Val) c.437G>T (p.Gly146Val) c.977G>T (p.Gly326Val) c.1474G>T c.*362G>T (n.*362G>T) c.1037G>T (p.Gly346Val) c.1199G>T (p.Gly400Val) | |
| X | g.50086501C>A | CA516678386 | CLCN5 | c.1188C>A (p.Gly396=) c.438C>A (p.Gly146=) c.978C>A (p.Gly326=) c.1475C>A c.*363C>A (n.*363C>A) c.1038C>A (p.Gly346=) c.1200C>A (p.Gly400=) | dbSNP |
| X | g.50086501C= | CA2428768886 | CLCN5 | c.1188C= (p.Gly396=) c.438C= (p.Gly146=) c.978C= (p.Gly326=) c.1475C= c.*363C= (n.*363C=) c.1038C= (p.Gly346=) c.1200C= (p.Gly400=) | |
| X | g.50086501C>G | CA516678381 | CLCN5 | c.1188C>G (p.Gly396=) c.438C>G (p.Gly146=) c.978C>G (p.Gly326=) c.1475C>G c.*363C>G (n.*363C>G) c.1038C>G (p.Gly346=) c.1200C>G (p.Gly400=) | |
| X | g.50086501C>T | CA516678383 | CLCN5 | c.1188C>T (p.Gly396=) c.438C>T (p.Gly146=) c.978C>T (p.Gly326=) c.1475C>T c.*363C>T (n.*363C>T) c.1038C>T (p.Gly346=) c.1200C>T (p.Gly400=) | |
| X | g.50086502A>C | CA413185382 | CLCN5 | c.1189A>C (p.Ile397Leu) c.439A>C (p.Ile147Leu) c.979A>C (p.Ile327Leu) c.1476A>C c.*364A>C (n.*364A>C) c.1039A>C (p.Ile347Leu) c.1201A>C (p.Ile401Leu) | |
| X | g.50086502A>G | CA413185383 | CLCN5 | c.1189A>G (p.Ile397Val) c.439A>G (p.Ile147Val) c.979A>G (p.Ile327Val) c.1476A>G c.*364A>G (n.*364A>G) c.1039A>G (p.Ile347Val) c.1201A>G (p.Ile401Val) | gnomAD v4 |
| X | g.50086502A>T | CA413185384 | CLCN5 | c.1189A>T (p.Ile397Leu) c.439A>T (p.Ile147Leu) c.979A>T (p.Ile327Leu) c.1476A>T c.*364A>T (n.*364A>T) c.1039A>T (p.Ile347Leu) c.1201A>T (p.Ile401Leu) | |
| X | g.50086503T>A | CA413185385 | CLCN5 | c.1190T>A (p.Ile397Lys) c.440T>A (p.Ile147Lys) c.980T>A (p.Ile327Lys) c.1477T>A c.*365T>A (n.*365T>A) c.1040T>A (p.Ile347Lys) c.1202T>A (p.Ile401Lys) | |
| X | g.50086503T>C | CA413185386 | CLCN5 | c.1190T>C (p.Ile397Thr) c.440T>C (p.Ile147Thr) c.980T>C (p.Ile327Thr) c.1477T>C c.*365T>C (n.*365T>C) c.1040T>C (p.Ile347Thr) c.1202T>C (p.Ile401Thr) | |
| X | g.50086503T>G | CA413185387 | CLCN5 | c.1190T>G (p.Ile397Arg) c.440T>G (p.Ile147Arg) c.980T>G (p.Ile327Arg) c.1477T>G c.*365T>G (n.*365T>G) c.1040T>G (p.Ile347Arg) c.1202T>G (p.Ile401Arg) | |
| X | g.50086504A>C | CA516678389 | CLCN5 | c.1191A>C (p.Ile397=) c.441A>C (p.Ile147=) c.981A>C (p.Ile327=) c.1478A>C c.*366A>C (n.*366A>C) c.1041A>C (p.Ile347=) c.1203A>C (p.Ile401=) | |
| X | g.50086504A>G | CA413185388 | CLCN5 | c.1191A>G (p.Ile397Met) c.441A>G (p.Ile147Met) c.981A>G (p.Ile327Met) c.1478A>G c.*366A>G (n.*366A>G) c.1041A>G (p.Ile347Met) c.1203A>G (p.Ile401Met) | ClinVar gnomAD v4 |
| X | g.50086504A>T | CA516678391 | CLCN5 | c.1191A>T (p.Ile397=) c.441A>T (p.Ile147=) c.981A>T (p.Ile327=) c.1478A>T c.*366A>T (n.*366A>T) c.1041A>T (p.Ile347=) c.1203A>T (p.Ile401=) | |
| X | g.50086505T>A | CA413185389 | CLCN5 | c.1192T>A (p.Phe398Ile) c.442T>A (p.Phe148Ile) c.982T>A (p.Phe328Ile) c.1479T>A c.*367T>A (n.*367T>A) c.1042T>A (p.Phe348Ile) c.1204T>A (p.Phe402Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086505T>C | CA413185390 | CLCN5 | c.1192T>C (p.Phe398Leu) c.442T>C (p.Phe148Leu) c.982T>C (p.Phe328Leu) c.1479T>C c.*367T>C (n.*367T>C) c.1042T>C (p.Phe348Leu) c.1204T>C (p.Phe402Leu) | |
| X | g.50086505T>G | CA413185391 | CLCN5 | c.1192T>G (p.Phe398Val) c.442T>G (p.Phe148Val) c.982T>G (p.Phe328Val) c.1479T>G c.*367T>G (n.*367T>G) c.1042T>G (p.Phe348Val) c.1204T>G (p.Phe402Val) | |
| X | g.50086505T= | CA2428768887 | CLCN5 | c.1192T= (p.Phe398=) c.442T= (p.Phe148=) c.982T= (p.Phe328=) c.1479T= c.*367T= (n.*367T=) c.1042T= (p.Phe348=) c.1204T= (p.Phe402=) | |
| X | g.50086506T>A | CA413185392 | CLCN5 | c.1193T>A (p.Phe398Tyr) c.443T>A (p.Phe148Tyr) c.983T>A (p.Phe328Tyr) c.1480T>A c.*368T>A (n.*368T>A) c.1043T>A (p.Phe348Tyr) c.1205T>A (p.Phe402Tyr) | |
| X | g.50086506T>C | CA413185393 | CLCN5 | c.1193T>C (p.Phe398Ser) c.443T>C (p.Phe148Ser) c.983T>C (p.Phe328Ser) c.1480T>C c.*368T>C (n.*368T>C) c.1043T>C (p.Phe348Ser) c.1205T>C (p.Phe402Ser) | |
| X | g.50086506T>G | CA413185394 | CLCN5 | c.1193T>G (p.Phe398Cys) c.443T>G (p.Phe148Cys) c.983T>G (p.Phe328Cys) c.1480T>G c.*368T>G (n.*368T>G) c.1043T>G (p.Phe348Cys) c.1205T>G (p.Phe402Cys) | |
| X | g.50086507T>A | CA413185396 | CLCN5 | c.1194T>A (p.Phe398Leu) c.444T>A (p.Phe148Leu) c.984T>A (p.Phe328Leu) c.1481T>A c.*369T>A (n.*369T>A) c.1044T>A (p.Phe348Leu) c.1206T>A (p.Phe402Leu) | |
| X | g.50086507T>C | CA516678401 | CLCN5 | c.1194T>C (p.Phe398=) c.444T>C (p.Phe148=) c.984T>C (p.Phe328=) c.1481T>C c.*369T>C (n.*369T>C) c.1044T>C (p.Phe348=) c.1206T>C (p.Phe402=) | |
| X | g.50086507T>G | CA413185395 | CLCN5 | c.1194T>G (p.Phe398Leu) c.444T>G (p.Phe148Leu) c.984T>G (p.Phe328Leu) c.1481T>G c.*369T>G (n.*369T>G) c.1044T>G (p.Phe348Leu) c.1206T>G (p.Phe402Leu) | |
| X | g.50086508G>A | CA413185397 | CLCN5 | c.1195G>A (p.Gly399Ser) c.445G>A (p.Gly149Ser) c.985G>A (p.Gly329Ser) c.1482G>A c.*370G>A (n.*370G>A) c.1045G>A (p.Gly349Ser) c.1207G>A (p.Gly403Ser) | |
| X | g.50086508G>C | CA413185398 | CLCN5 | c.1195G>C (p.Gly399Arg) c.445G>C (p.Gly149Arg) c.985G>C (p.Gly329Arg) c.1482G>C c.*370G>C (n.*370G>C) c.1045G>C (p.Gly349Arg) c.1207G>C (p.Gly403Arg) | |
| X | g.50086508G>T | CA413185399 | CLCN5 | c.1195G>T (p.Gly399Cys) c.445G>T (p.Gly149Cys) c.985G>T (p.Gly329Cys) c.1482G>T c.*370G>T (n.*370G>T) c.1045G>T (p.Gly349Cys) c.1207G>T (p.Gly403Cys) | |
| X | g.50086509G>A | CA413185400 | CLCN5 | c.1196G>A (p.Gly399Asp) c.446G>A (p.Gly149Asp) c.986G>A (p.Gly329Asp) c.1483G>A c.*371G>A (n.*371G>A) c.1046G>A (p.Gly349Asp) c.1208G>A (p.Gly403Asp) | |
| X | g.50086509G>C | CA413185401 | CLCN5 | c.1196G>C (p.Gly399Ala) c.446G>C (p.Gly149Ala) c.986G>C (p.Gly329Ala) c.1483G>C c.*371G>C (n.*371G>C) c.1046G>C (p.Gly349Ala) c.1208G>C (p.Gly403Ala) | |
| X | g.50086509G>T | CA413185402 | CLCN5 | c.1196G>T (p.Gly399Val) c.446G>T (p.Gly149Val) c.986G>T (p.Gly329Val) c.1483G>T c.*371G>T (n.*371G>T) c.1046G>T (p.Gly349Val) c.1208G>T (p.Gly403Val) | |
| X | g.50086510T>A | CA516678406 | CLCN5 | c.1197T>A (p.Gly399=) c.447T>A (p.Gly149=) c.987T>A (p.Gly329=) c.1484T>A c.*372T>A (n.*372T>A) c.1047T>A (p.Gly349=) c.1209T>A (p.Gly403=) | |
| X | g.50086510T>C | CA516678409 | CLCN5 | c.1197T>C (p.Gly399=) c.447T>C (p.Gly149=) c.987T>C (p.Gly329=) c.1484T>C c.*372T>C (n.*372T>C) c.1047T>C (p.Gly349=) c.1209T>C (p.Gly403=) | |
| X | g.50086510T>G | CA516678410 | CLCN5 | c.1197T>G (p.Gly399=) c.447T>G (p.Gly149=) c.987T>G (p.Gly329=) c.1484T>G c.*372T>G (n.*372T>G) c.1047T>G (p.Gly349=) c.1209T>G (p.Gly403=) | |
| X | g.50086511G>A | CA413185405 | CLCN5 | c.1198G>A (p.Gly400Ser) c.448G>A (p.Gly150Ser) c.988G>A (p.Gly330Ser) c.1485G>A c.*373G>A (n.*373G>A) c.1048G>A (p.Gly350Ser) c.1210G>A (p.Gly404Ser) | |
| X | g.50086511G>C | CA413185403 | CLCN5 | c.1198G>C (p.Gly400Arg) c.448G>C (p.Gly150Arg) c.988G>C (p.Gly330Arg) c.1485G>C c.*373G>C (n.*373G>C) c.1048G>C (p.Gly350Arg) c.1210G>C (p.Gly404Arg) | |
| X | g.50086511G>T | CA413185404 | CLCN5 | c.1198G>T (p.Gly400Cys) c.448G>T (p.Gly150Cys) c.988G>T (p.Gly330Cys) c.1485G>T c.*373G>T (n.*373G>T) c.1048G>T (p.Gly350Cys) c.1210G>T (p.Gly404Cys) | |
| X | g.50086512G>A | CA413185406 | CLCN5 | c.1199G>A (p.Gly400Asp) c.449G>A (p.Gly150Asp) c.989G>A (p.Gly330Asp) c.1486G>A c.*374G>A (n.*374G>A) c.1049G>A (p.Gly350Asp) c.1211G>A (p.Gly404Asp) | COSMIC COSMIC |
| X | g.50086512G>C | CA413185407 | CLCN5 | c.1199G>C (p.Gly400Ala) c.449G>C (p.Gly150Ala) c.989G>C (p.Gly330Ala) c.1486G>C c.*374G>C (n.*374G>C) c.1049G>C (p.Gly350Ala) c.1211G>C (p.Gly404Ala) | |
| X | g.50086512G>T | CA413185408 | CLCN5 | c.1199G>T (p.Gly400Val) c.449G>T (p.Gly150Val) c.989G>T (p.Gly330Val) c.1486G>T c.*374G>T (n.*374G>T) c.1049G>T (p.Gly350Val) c.1211G>T (p.Gly404Val) | |
| X | g.50086513T>A | CA516678412 | CLCN5 | c.1200T>A (p.Gly400=) c.450T>A (p.Gly150=) c.990T>A (p.Gly330=) c.1487T>A c.*375T>A (n.*375T>A) c.1050T>A (p.Gly350=) c.1212T>A (p.Gly404=) | |
| X | g.50086513T>C | CA516678417 | CLCN5 | c.1200T>C (p.Gly400=) c.450T>C (p.Gly150=) c.990T>C (p.Gly330=) c.1487T>C c.*375T>C (n.*375T>C) c.1050T>C (p.Gly350=) c.1212T>C (p.Gly404=) | |
| X | g.50086513T>G | CA516678418 | CLCN5 | c.1200T>G (p.Gly400=) c.450T>G (p.Gly150=) c.990T>G (p.Gly330=) c.1487T>G c.*375T>G (n.*375T>G) c.1050T>G (p.Gly350=) c.1212T>G (p.Gly404=) | |
| X | g.50086514C>A | CA413185409 | CLCN5 | c.1201C>A (p.Leu401Met) c.451C>A (p.Leu151Met) c.991C>A (p.Leu331Met) c.1488C>A c.*376C>A (n.*376C>A) c.1051C>A (p.Leu351Met) c.1213C>A (p.Leu405Met) | |
| X | g.50086514C>G | CA413185410 | CLCN5 | c.1201C>G (p.Leu401Val) c.451C>G (p.Leu151Val) c.991C>G (p.Leu331Val) c.1488C>G c.*376C>G (n.*376C>G) c.1051C>G (p.Leu351Val) c.1213C>G (p.Leu405Val) | |
| X | g.50086514C>T | CA516678419 | CLCN5 | c.1201C>T (p.Leu401=) c.451C>T (p.Leu151=) c.991C>T (p.Leu331=) c.1488C>T c.*376C>T (n.*376C>T) c.1051C>T (p.Leu351=) c.1213C>T (p.Leu405=) | |
| X | g.50086515T>A | CA413185413 | CLCN5 | c.1202T>A (p.Leu401Gln) c.452T>A (p.Leu151Gln) c.992T>A (p.Leu331Gln) c.1489T>A c.*377T>A (n.*377T>A) c.1052T>A (p.Leu351Gln) c.1214T>A (p.Leu405Gln) | |
| X | g.50086515T>C | CA413185411 | CLCN5 | c.1202T>C (p.Leu401Pro) c.452T>C (p.Leu151Pro) c.992T>C (p.Leu331Pro) c.1489T>C c.*377T>C (n.*377T>C) c.1052T>C (p.Leu351Pro) c.1214T>C (p.Leu405Pro) | |
| X | g.50086515T>G | CA413185412 | CLCN5 | c.1202T>G (p.Leu401Arg) c.452T>G (p.Leu151Arg) c.992T>G (p.Leu331Arg) c.1489T>G c.*377T>G (n.*377T>G) c.1052T>G (p.Leu351Arg) c.1214T>G (p.Leu405Arg) | |
| X | g.50086515_50086516insAGTATTAT | CA2695233683 | CLCN5 | c.1202_1203insAGTATTAT (p.Trp402ValfsTer30) c.452_453insAGTATTAT (p.Trp152ValfsTer30) c.992_993insAGTATTAT (p.Trp332ValfsTer30) c.1489_1490insAGTATTAT c.*377_*378insAGTATTAT (n.*377_*378insAGTATTAT) c.1052_1053insAGTATTAT (p.Trp352ValfsTer30) c.1214_1215insAGTATTAT (p.Trp406ValfsTer30) | |
| X | g.50086516G>A | CA516678424 | CLCN5 | c.1203G>A (p.Leu401=) c.453G>A (p.Leu151=) c.993G>A (p.Leu331=) c.1490G>A c.*378G>A (n.*378G>A) c.1053G>A (p.Leu351=) c.1215G>A (p.Leu405=) | |
| X | g.50086516G>C | CA10413846 | CLCN5 | c.1203G>C (p.Leu401=) c.453G>C (p.Leu151=) c.993G>C (p.Leu331=) c.1490G>C c.*378G>C (n.*378G>C) c.1053G>C (p.Leu351=) c.1215G>C (p.Leu405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086516G= | CA2428768888 | CLCN5 | c.1203G= (p.Leu401=) c.453G= (p.Leu151=) c.993G= (p.Leu331=) c.1490G= c.*378G= (n.*378G=) c.1053G= (p.Leu351=) c.1215G= (p.Leu405=) | |
| X | g.50086516G>T | CA516678426 | CLCN5 | c.1203G>T (p.Leu401=) c.453G>T (p.Leu151=) c.993G>T (p.Leu331=) c.1490G>T c.*378G>T (n.*378G>T) c.1053G>T (p.Leu351=) c.1215G>T (p.Leu405=) | |
| X | g.50086517T>A | CA413185415 | CLCN5 | c.1204T>A (p.Trp402Arg) c.454T>A (p.Trp152Arg) c.994T>A (p.Trp332Arg) c.1491T>A c.*379T>A (n.*379T>A) c.1054T>A (p.Trp352Arg) c.1216T>A (p.Trp406Arg) | |
| X | g.50086517T>C | CA413185414 | CLCN5 | c.1204T>C (p.Trp402Arg) c.454T>C (p.Trp152Arg) c.994T>C (p.Trp332Arg) c.1491T>C c.*379T>C (n.*379T>C) c.1054T>C (p.Trp352Arg) c.1216T>C (p.Trp406Arg) | |
| X | g.50086517T>G | CA413185416 | CLCN5 | c.1204T>G (p.Trp402Gly) c.454T>G (p.Trp152Gly) c.994T>G (p.Trp332Gly) c.1491T>G c.*379T>G (n.*379T>G) c.1054T>G (p.Trp352Gly) c.1216T>G (p.Trp406Gly) | |
| X | g.50086518G>A | CA413185417 | CLCN5 | c.1205G>A (p.Trp402Ter) c.455G>A (p.Trp152Ter) c.995G>A (p.Trp332Ter) c.1492G>A c.*380G>A (n.*380G>A) c.1055G>A (p.Trp352Ter) c.1217G>A (p.Trp406Ter) | |
| X | g.50086518G>C | CA413185419 | CLCN5 | c.1205G>C (p.Trp402Ser) c.455G>C (p.Trp152Ser) c.995G>C (p.Trp332Ser) c.1492G>C c.*380G>C (n.*380G>C) c.1055G>C (p.Trp352Ser) c.1217G>C (p.Trp406Ser) | |
| X | g.50086518G>T | CA413185418 | CLCN5 | c.1205G>T (p.Trp402Leu) c.455G>T (p.Trp152Leu) c.995G>T (p.Trp332Leu) c.1492G>T c.*380G>T (n.*380G>T) c.1055G>T (p.Trp352Leu) c.1217G>T (p.Trp406Leu) | |
| X | g.50086519G>A | CA413185420 | CLCN5 | c.1206G>A (p.Trp402Ter) c.456G>A (p.Trp152Ter) c.996G>A (p.Trp332Ter) c.1493G>A c.*381G>A (n.*381G>A) c.1056G>A (p.Trp352Ter) c.1218G>A (p.Trp406Ter) | |
| X | g.50086519G>C | CA413185421 | CLCN5 | c.1206G>C (p.Trp402Cys) c.456G>C (p.Trp152Cys) c.996G>C (p.Trp332Cys) c.1493G>C c.*381G>C (n.*381G>C) c.1056G>C (p.Trp352Cys) c.1218G>C (p.Trp406Cys) | |
| X | g.50086519G>T | CA413185422 | CLCN5 | c.1206G>T (p.Trp402Cys) c.456G>T (p.Trp152Cys) c.996G>T (p.Trp332Cys) c.1493G>T c.*381G>T (n.*381G>T) c.1056G>T (p.Trp352Cys) c.1218G>T (p.Trp406Cys) | |
| X | g.50086520G>A | CA413185423 | CLCN5 | c.1207G>A (p.Gly403Arg) c.457G>A (p.Gly153Arg) c.997G>A (p.Gly333Arg) c.1494G>A c.*382G>A (n.*382G>A) c.1057G>A (p.Gly353Arg) c.1219G>A (p.Gly407Arg) | COSMIC COSMIC |
| X | g.50086520G>C | CA413185424 | CLCN5 | c.1207G>C (p.Gly403Arg) c.457G>C (p.Gly153Arg) c.997G>C (p.Gly333Arg) c.1494G>C c.*382G>C (n.*382G>C) c.1057G>C (p.Gly353Arg) c.1219G>C (p.Gly407Arg) | |
| X | g.50086520G>T | CA413185425 | CLCN5 | c.1207G>T (p.Gly403Ter) c.457G>T (p.Gly153Ter) c.997G>T (p.Gly333Ter) c.1494G>T c.*382G>T (n.*382G>T) c.1057G>T (p.Gly353Ter) c.1219G>T (p.Gly407Ter) | |
| X | g.50086521G>A | CA413185426 | CLCN5 | c.1208G>A (p.Gly403Glu) c.458G>A (p.Gly153Glu) c.998G>A (p.Gly333Glu) c.1495G>A c.*383G>A (n.*383G>A) c.1058G>A (p.Gly353Glu) c.1220G>A (p.Gly407Glu) | COSMIC |
| X | g.50086521G>C | CA413185427 | CLCN5 | c.1208G>C (p.Gly403Ala) c.458G>C (p.Gly153Ala) c.998G>C (p.Gly333Ala) c.1495G>C c.*383G>C (n.*383G>C) c.1058G>C (p.Gly353Ala) c.1220G>C (p.Gly407Ala) | |
| X | g.50086521G>T | CA413185428 | CLCN5 | c.1208G>T (p.Gly403Val) c.458G>T (p.Gly153Val) c.998G>T (p.Gly333Val) c.1495G>T c.*383G>T (n.*383G>T) c.1058G>T (p.Gly353Val) c.1220G>T (p.Gly407Val) | |
| X | g.50086522A= | CA2428768889 | CLCN5 | c.1209A= (p.Gly403=) c.459A= (p.Gly153=) c.999A= (p.Gly333=) c.1496A= c.*384A= (n.*384A=) c.1059A= (p.Gly353=) c.1221A= (p.Gly407=) | |
| X | g.50086522A>C | CA516678433 | CLCN5 | c.1209A>C (p.Gly403=) c.459A>C (p.Gly153=) c.999A>C (p.Gly333=) c.1496A>C c.*384A>C (n.*384A>C) c.1059A>C (p.Gly353=) c.1221A>C (p.Gly407=) | gnomAD v4 |
| X | g.50086522A>G | CA516678434 | CLCN5 | c.1209A>G (p.Gly403=) c.459A>G (p.Gly153=) c.999A>G (p.Gly333=) c.1496A>G c.*384A>G (n.*384A>G) c.1059A>G (p.Gly353=) c.1221A>G (p.Gly407=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086522A>T | CA516678435 | CLCN5 | c.1209A>T (p.Gly403=) c.459A>T (p.Gly153=) c.999A>T (p.Gly333=) c.1496A>T c.*384A>T (n.*384A>T) c.1059A>T (p.Gly353=) c.1221A>T (p.Gly407=) | |
| X | g.50086523G>A | CA413185429 | CLCN5 | c.1210G>A (p.Ala404Thr) c.460G>A (p.Ala154Thr) c.1000G>A (p.Ala334Thr) c.1497G>A c.*385G>A (n.*385G>A) c.1060G>A (p.Ala354Thr) c.1222G>A (p.Ala408Thr) | COSMIC COSMIC |
| X | g.50086523G>C | CA413185430 | CLCN5 | c.1210G>C (p.Ala404Pro) c.460G>C (p.Ala154Pro) c.1000G>C (p.Ala334Pro) c.1497G>C c.*385G>C (n.*385G>C) c.1060G>C (p.Ala354Pro) c.1222G>C (p.Ala408Pro) | |
| X | g.50086523G>T | CA413185431 | CLCN5 | c.1210G>T (p.Ala404Ser) c.460G>T (p.Ala154Ser) c.1000G>T (p.Ala334Ser) c.1497G>T c.*385G>T (n.*385G>T) c.1060G>T (p.Ala354Ser) c.1222G>T (p.Ala408Ser) | |
| X | g.50086524C>A | CA413185434 | CLCN5 | c.1211C>A (p.Ala404Glu) c.461C>A (p.Ala154Glu) c.1001C>A (p.Ala334Glu) c.1498C>A c.*386C>A (n.*386C>A) c.1061C>A (p.Ala354Glu) c.1223C>A (p.Ala408Glu) | |
| X | g.50086524C>G | CA413185432 | CLCN5 | c.1211C>G (p.Ala404Gly) c.461C>G (p.Ala154Gly) c.1001C>G (p.Ala334Gly) c.1498C>G c.*386C>G (n.*386C>G) c.1061C>G (p.Ala354Gly) c.1223C>G (p.Ala408Gly) | |
| X | g.50086524C>T | CA413185433 | CLCN5 | c.1211C>T (p.Ala404Val) c.461C>T (p.Ala154Val) c.1001C>T (p.Ala334Val) c.1498C>T c.*386C>T (n.*386C>T) c.1061C>T (p.Ala354Val) c.1223C>T (p.Ala408Val) | |
| X | g.50086525A= | CA2428768890 | CLCN5 | c.1212A= (p.Ala404=) c.462A= (p.Ala154=) c.1002A= (p.Ala334=) c.1499A= c.*387A= (n.*387A=) c.1062A= (p.Ala354=) c.1224A= (p.Ala408=) | |
| X | g.50086525A>C | CA516678437 | CLCN5 | c.1212A>C (p.Ala404=) c.462A>C (p.Ala154=) c.1002A>C (p.Ala334=) c.1499A>C c.*387A>C (n.*387A>C) c.1062A>C (p.Ala354=) c.1224A>C (p.Ala408=) | |
| X | g.50086525A>G | CA10413847 | CLCN5 | c.1212A>G (p.Ala404=) c.462A>G (p.Ala154=) c.1002A>G (p.Ala334=) c.1499A>G c.*387A>G (n.*387A>G) c.1062A>G (p.Ala354=) c.1224A>G (p.Ala408=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086525A>T | CA516678439 | CLCN5 | c.1212A>T (p.Ala404=) c.462A>T (p.Ala154=) c.1002A>T (p.Ala334=) c.1499A>T c.*387A>T (n.*387A>T) c.1062A>T (p.Ala354=) c.1224A>T (p.Ala408=) | |
| X | g.50086526C>A | CA413185435 | CLCN5 | c.1213C>A (p.Leu405Met) c.463C>A (p.Leu155Met) c.1003C>A (p.Leu335Met) c.1500C>A c.*388C>A (n.*388C>A) c.1063C>A (p.Leu355Met) c.1225C>A (p.Leu409Met) | |
| X | g.50086526C= | CA2428768891 | CLCN5 | c.1213C= (p.Leu405=) c.463C= (p.Leu155=) c.1003C= (p.Leu335=) c.1500C= c.*388C= (n.*388C=) c.1063C= (p.Leu355=) c.1225C= (p.Leu409=) | |
| X | g.50086526C>G | CA413185436 | CLCN5 | c.1213C>G (p.Leu405Val) c.463C>G (p.Leu155Val) c.1003C>G (p.Leu335Val) c.1500C>G c.*388C>G (n.*388C>G) c.1063C>G (p.Leu355Val) c.1225C>G (p.Leu409Val) | |
| X | g.50086526C>T | CA10606436 | CLCN5 | c.1213C>T (p.Leu405=) c.463C>T (p.Leu155=) c.1003C>T (p.Leu335=) c.1500C>T c.*388C>T (n.*388C>T) c.1063C>T (p.Leu355=) c.1225C>T (p.Leu409=) | ClinVar dbSNP gnomAD v4 |
| X | g.50086527T>A | CA413185437 | CLCN5 | c.1214T>A (p.Leu405Gln) c.464T>A (p.Leu155Gln) c.1004T>A (p.Leu335Gln) c.1501T>A c.*389T>A (n.*389T>A) c.1064T>A (p.Leu355Gln) c.1226T>A (p.Leu409Gln) | |
| X | g.50086527T>C | CA413185438 | CLCN5 | c.1214T>C (p.Leu405Pro) c.464T>C (p.Leu155Pro) c.1004T>C (p.Leu335Pro) c.1501T>C c.*389T>C (n.*389T>C) c.1064T>C (p.Leu355Pro) c.1226T>C (p.Leu409Pro) | |
| X | g.50086527T>G | CA413185439 | CLCN5 | c.1214T>G (p.Leu405Arg) c.464T>G (p.Leu155Arg) c.1004T>G (p.Leu335Arg) c.1501T>G c.*389T>G (n.*389T>G) c.1064T>G (p.Leu355Arg) c.1226T>G (p.Leu409Arg) | |
| X | g.50086528G>A | CA516678445 | CLCN5 | c.1215G>A (p.Leu405=) c.465G>A (p.Leu155=) c.1005G>A (p.Leu335=) c.1502G>A c.*390G>A (n.*390G>A) c.1065G>A (p.Leu355=) c.1227G>A (p.Leu409=) | |
| X | g.50086528G>C | CA516678447 | CLCN5 | c.1215G>C (p.Leu405=) c.465G>C (p.Leu155=) c.1005G>C (p.Leu335=) c.1502G>C c.*390G>C (n.*390G>C) c.1065G>C (p.Leu355=) c.1227G>C (p.Leu409=) | |
| X | g.50086528G>T | CA516678450 | CLCN5 | c.1215G>T (p.Leu405=) c.465G>T (p.Leu155=) c.1005G>T (p.Leu335=) c.1502G>T c.*390G>T (n.*390G>T) c.1065G>T (p.Leu355=) c.1227G>T (p.Leu409=) | |
| X | g.50086529T>A | CA413185440 | CLCN5 | c.1216T>A (p.Phe406Ile) c.466T>A (p.Phe156Ile) c.1006T>A (p.Phe336Ile) c.1503T>A c.*391T>A (n.*391T>A) c.1066T>A (p.Phe356Ile) c.1228T>A (p.Phe410Ile) | |
| X | g.50086529T>C | CA413185441 | CLCN5 | c.1216T>C (p.Phe406Leu) c.466T>C (p.Phe156Leu) c.1006T>C (p.Phe336Leu) c.1503T>C c.*391T>C (n.*391T>C) c.1066T>C (p.Phe356Leu) c.1228T>C (p.Phe410Leu) | |
| X | g.50086529T>G | CA413185442 | CLCN5 | c.1216T>G (p.Phe406Val) c.466T>G (p.Phe156Val) c.1006T>G (p.Phe336Val) c.1503T>G c.*391T>G (n.*391T>G) c.1066T>G (p.Phe356Val) c.1228T>G (p.Phe410Val) | |
| X | g.50086530T>A | CA413185445 | CLCN5 | c.1217T>A (p.Phe406Tyr) c.467T>A (p.Phe156Tyr) c.1007T>A (p.Phe336Tyr) c.1504T>A c.*392T>A (n.*392T>A) c.1067T>A (p.Phe356Tyr) c.1229T>A (p.Phe410Tyr) | |
| X | g.50086530T>C | CA413185444 | CLCN5 | c.1217T>C (p.Phe406Ser) c.467T>C (p.Phe156Ser) c.1007T>C (p.Phe336Ser) c.1504T>C c.*392T>C (n.*392T>C) c.1067T>C (p.Phe356Ser) c.1229T>C (p.Phe410Ser) | |
| X | g.50086530T>G | CA413185443 | CLCN5 | c.1217T>G (p.Phe406Cys) c.467T>G (p.Phe156Cys) c.1007T>G (p.Phe336Cys) c.1504T>G c.*392T>G (n.*392T>G) c.1067T>G (p.Phe356Cys) c.1229T>G (p.Phe410Cys) | |
| X | g.50086530_50086535del | CA2693737104 | CLCN5 | c.1217_1222del (p.Phe406_Arg408delinsCys) c.467_472del (p.Phe156_Arg158delinsCys) c.1007_1012del (p.Phe336_Arg338delinsCys) c.1504_1509del c.*392_*397del (n.*392_*397del) c.1067_1072del (p.Phe356_Arg358delinsCys) c.1229_1234del (p.Phe410_Arg412delinsCys) | gnomAD v4 |
| X | g.50086531T>A | CA413185446 | CLCN5 | c.1218T>A (p.Phe406Leu) c.468T>A (p.Phe156Leu) c.1008T>A (p.Phe336Leu) c.1505T>A c.*393T>A (n.*393T>A) c.1068T>A (p.Phe356Leu) c.1230T>A (p.Phe410Leu) | |
| X | g.50086531T>C | CA516678456 | CLCN5 | c.1218T>C (p.Phe406=) c.468T>C (p.Phe156=) c.1008T>C (p.Phe336=) c.1505T>C c.*393T>C (n.*393T>C) c.1068T>C (p.Phe356=) c.1230T>C (p.Phe410=) | dbSNP |
| X | g.50086531T>G | CA413185447 | CLCN5 | c.1218T>G (p.Phe406Leu) c.468T>G (p.Phe156Leu) c.1008T>G (p.Phe336Leu) c.1505T>G c.*393T>G (n.*393T>G) c.1068T>G (p.Phe356Leu) c.1230T>G (p.Phe410Leu) | |
| X | g.50086531T= | CA2428768892 | CLCN5 | c.1218T= (p.Phe406=) c.468T= (p.Phe156=) c.1008T= (p.Phe336=) c.1505T= c.*393T= (n.*393T=) c.1068T= (p.Phe356=) c.1230T= (p.Phe410=) | |
| X | g.50086532A>C | CA413185448 | CLCN5 | c.1219A>C (p.Ile407Leu) c.469A>C (p.Ile157Leu) c.1009A>C (p.Ile337Leu) c.1506A>C c.*394A>C (n.*394A>C) c.1069A>C (p.Ile357Leu) c.1231A>C (p.Ile411Leu) | |
| X | g.50086532A>G | CA413185449 | CLCN5 | c.1219A>G (p.Ile407Val) c.469A>G (p.Ile157Val) c.1009A>G (p.Ile337Val) c.1506A>G c.*394A>G (n.*394A>G) c.1069A>G (p.Ile357Val) c.1231A>G (p.Ile411Val) | |
| X | g.50086532A>T | CA413185450 | CLCN5 | c.1219A>T (p.Ile407Phe) c.469A>T (p.Ile157Phe) c.1009A>T (p.Ile337Phe) c.1506A>T c.*394A>T (n.*394A>T) c.1069A>T (p.Ile357Phe) c.1231A>T (p.Ile411Phe) | |
| X | g.50086533T>A | CA413185451 | CLCN5 | c.1220T>A (p.Ile407Asn) c.470T>A (p.Ile157Asn) c.1010T>A (p.Ile337Asn) c.1507T>A c.*395T>A (n.*395T>A) c.1070T>A (p.Ile357Asn) c.1232T>A (p.Ile411Asn) | |
| X | g.50086533T>C | CA413185452 | CLCN5 | c.1220T>C (p.Ile407Thr) c.470T>C (p.Ile157Thr) c.1010T>C (p.Ile337Thr) c.1507T>C c.*395T>C (n.*395T>C) c.1070T>C (p.Ile357Thr) c.1232T>C (p.Ile411Thr) | |
| X | g.50086533T>G | CA413185453 | CLCN5 | c.1220T>G (p.Ile407Ser) c.470T>G (p.Ile157Ser) c.1010T>G (p.Ile337Ser) c.1507T>G c.*395T>G (n.*395T>G) c.1070T>G (p.Ile357Ser) c.1232T>G (p.Ile411Ser) | |
| X | g.50086534C>A | CA516678459 | CLCN5 | c.1221C>A (p.Ile407=) c.471C>A (p.Ile157=) c.1011C>A (p.Ile337=) c.1508C>A c.*396C>A (n.*396C>A) c.1071C>A (p.Ile357=) c.1233C>A (p.Ile411=) | |
| X | g.50086534C>G | CA413185454 | CLCN5 | c.1221C>G (p.Ile407Met) c.471C>G (p.Ile157Met) c.1011C>G (p.Ile337Met) c.1508C>G c.*396C>G (n.*396C>G) c.1071C>G (p.Ile357Met) c.1233C>G (p.Ile411Met) | |
| X | g.50086534C>T | CA516678460 | CLCN5 | c.1221C>T (p.Ile407=) c.471C>T (p.Ile157=) c.1011C>T (p.Ile337=) c.1508C>T c.*396C>T (n.*396C>T) c.1071C>T (p.Ile357=) c.1233C>T (p.Ile411=) | |
| X | g.50086535C>A | CA413185455 | CLCN5 | c.1222C>A (p.Arg408Ser) c.472C>A (p.Arg158Ser) c.1012C>A (p.Arg338Ser) c.1509C>A c.*397C>A (n.*397C>A) c.1072C>A (p.Arg358Ser) c.1234C>A (p.Arg412Ser) | |
| X | g.50086535C= | CA2428768893 | CLCN5 | c.1222C= (p.Arg408=) c.472C= (p.Arg158=) c.1012C= (p.Arg338=) c.1509C= c.*397C= (n.*397C=) c.1072C= (p.Arg358=) c.1234C= (p.Arg412=) | |
| X | g.50086535C>G | CA413185456 | CLCN5 | c.1222C>G (p.Arg408Gly) c.472C>G (p.Arg158Gly) c.1012C>G (p.Arg338Gly) c.1509C>G c.*397C>G (n.*397C>G) c.1072C>G (p.Arg358Gly) c.1234C>G (p.Arg412Gly) | |
| X | g.50086535C>T | CA10413848 | CLCN5 | c.1222C>T (p.Arg408Cys) c.472C>T (p.Arg158Cys) c.1012C>T (p.Arg338Cys) c.1509C>T c.*397C>T (n.*397C>T) c.1072C>T (p.Arg358Cys) c.1234C>T (p.Arg412Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086536G>A | CA10413849 | CLCN5 | c.1223G>A (p.Arg408His) c.473G>A (p.Arg158His) c.1013G>A (p.Arg338His) c.1510G>A c.*398G>A (n.*398G>A) c.1073G>A (p.Arg358His) c.1235G>A (p.Arg412His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086536G>C | CA413185457 | CLCN5 | c.1223G>C (p.Arg408Pro) c.473G>C (p.Arg158Pro) c.1013G>C (p.Arg338Pro) c.1510G>C c.*398G>C (n.*398G>C) c.1073G>C (p.Arg358Pro) c.1235G>C (p.Arg412Pro) | |
| X | g.50086536G= | CA2428768894 | CLCN5 | c.1223G= (p.Arg408=) c.473G= (p.Arg158=) c.1013G= (p.Arg338=) c.1510G= c.*398G= (n.*398G=) c.1073G= (p.Arg358=) c.1235G= (p.Arg412=) | |
| X | g.50086536G>T | CA413185458 | CLCN5 | c.1223G>T (p.Arg408Leu) c.473G>T (p.Arg158Leu) c.1013G>T (p.Arg338Leu) c.1510G>T c.*398G>T (n.*398G>T) c.1073G>T (p.Arg358Leu) c.1235G>T (p.Arg412Leu) | |
| X | g.50086537C>A | CA516678466 | CLCN5 | c.1224C>A (p.Arg408=) c.474C>A (p.Arg158=) c.1014C>A (p.Arg338=) c.1511C>A c.*399C>A (n.*399C>A) c.1074C>A (p.Arg358=) c.1236C>A (p.Arg412=) | |
| X | g.50086537C= | CA2428768895 | CLCN5 | c.1224C= (p.Arg408=) c.474C= (p.Arg158=) c.1014C= (p.Arg338=) c.1511C= c.*399C= (n.*399C=) c.1074C= (p.Arg358=) c.1236C= (p.Arg412=) | |
| X | g.50086537C>G | CA516678463 | CLCN5 | c.1224C>G (p.Arg408=) c.474C>G (p.Arg158=) c.1014C>G (p.Arg338=) c.1511C>G c.*399C>G (n.*399C>G) c.1074C>G (p.Arg358=) c.1236C>G (p.Arg412=) | |
| X | g.50086537C>T | CA516678465 | CLCN5 | c.1224C>T (p.Arg408=) c.474C>T (p.Arg158=) c.1014C>T (p.Arg338=) c.1511C>T c.*399C>T (n.*399C>T) c.1074C>T (p.Arg358=) c.1236C>T (p.Arg412=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086538A= | CA2428768896 | CLCN5 | c.1225A= (p.Thr409=) c.475A= (p.Thr159=) c.1015A= (p.Thr339=) c.1512A= c.*400A= (n.*400A=) c.1075A= (p.Thr359=) c.1237A= (p.Thr413=) | |
| X | g.50086538A>C | CA413185459 | CLCN5 | c.1225A>C (p.Thr409Pro) c.475A>C (p.Thr159Pro) c.1015A>C (p.Thr339Pro) c.1512A>C c.*400A>C (n.*400A>C) c.1075A>C (p.Thr359Pro) c.1237A>C (p.Thr413Pro) | |
| X | g.50086538A>G | CA413185460 | CLCN5 | c.1225A>G (p.Thr409Ala) c.475A>G (p.Thr159Ala) c.1015A>G (p.Thr339Ala) c.1512A>G c.*400A>G (n.*400A>G) c.1075A>G (p.Thr359Ala) c.1237A>G (p.Thr413Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086538A>T | CA413185461 | CLCN5 | c.1225A>T (p.Thr409Ser) c.475A>T (p.Thr159Ser) c.1015A>T (p.Thr339Ser) c.1512A>T c.*400A>T (n.*400A>T) c.1075A>T (p.Thr359Ser) c.1237A>T (p.Thr413Ser) | |
| X | g.50086539C>A | CA413185462 | CLCN5 | c.1226C>A (p.Thr409Lys) c.476C>A (p.Thr159Lys) c.1016C>A (p.Thr339Lys) c.1513C>A c.*401C>A (n.*401C>A) c.1076C>A (p.Thr359Lys) c.1238C>A (p.Thr413Lys) | |
| X | g.50086539C>G | CA413185463 | CLCN5 | c.1226C>G (p.Thr409Arg) c.476C>G (p.Thr159Arg) c.1016C>G (p.Thr339Arg) c.1513C>G c.*401C>G (n.*401C>G) c.1076C>G (p.Thr359Arg) c.1238C>G (p.Thr413Arg) | |
| X | g.50086539C>T | CA413185464 | CLCN5 | c.1226C>T (p.Thr409Ile) c.476C>T (p.Thr159Ile) c.1016C>T (p.Thr339Ile) c.1513C>T c.*401C>T (n.*401C>T) c.1076C>T (p.Thr359Ile) c.1238C>T (p.Thr413Ile) | gnomAD v4 |
| X | g.50086539dup | CA2693737105 | CLCN5 | c.1226dup (p.Asn410LysfsTer?) c.476dup (p.Asn160LysfsTer?) c.1016dup (p.Asn340LysfsTer?) c.1513dup c.*401dup (n.*401dup) c.1076dup (p.Asn360LysfsTer?) c.1238dup (p.Asn414LysfsTer?) | gnomAD v4 |
| X | g.50086540A>C | CA516678470 | CLCN5 | c.1227A>C (p.Thr409=) c.477A>C (p.Thr159=) c.1017A>C (p.Thr339=) c.1514A>C c.*402A>C (n.*402A>C) c.1077A>C (p.Thr359=) c.1239A>C (p.Thr413=) | |
| X | g.50086540A>G | CA516678472 | CLCN5 | c.1227A>G (p.Thr409=) c.477A>G (p.Thr159=) c.1017A>G (p.Thr339=) c.1514A>G c.*402A>G (n.*402A>G) c.1077A>G (p.Thr359=) c.1239A>G (p.Thr413=) | |
| X | g.50086540A>T | CA516678473 | CLCN5 | c.1227A>T (p.Thr409=) c.477A>T (p.Thr159=) c.1017A>T (p.Thr339=) c.1514A>T c.*402A>T (n.*402A>T) c.1077A>T (p.Thr359=) c.1239A>T (p.Thr413=) | |
| X | g.50086541A>C | CA413185465 | CLCN5 | c.1228A>C (p.Asn410His) c.478A>C (p.Asn160His) c.1018A>C (p.Asn340His) c.1515A>C c.*403A>C (n.*403A>C) c.1078A>C (p.Asn360His) c.1240A>C (p.Asn414His) | |
| X | g.50086541A>G | CA413185466 | CLCN5 | c.1228A>G (p.Asn410Asp) c.478A>G (p.Asn160Asp) c.1018A>G (p.Asn340Asp) c.1515A>G c.*403A>G (n.*403A>G) c.1078A>G (p.Asn360Asp) c.1240A>G (p.Asn414Asp) | |
| X | g.50086541A>T | CA413185467 | CLCN5 | c.1228A>T (p.Asn410Tyr) c.478A>T (p.Asn160Tyr) c.1018A>T (p.Asn340Tyr) c.1515A>T c.*403A>T (n.*403A>T) c.1078A>T (p.Asn360Tyr) c.1240A>T (p.Asn414Tyr) | |
| X | g.50086542A= | CA2428768897 | CLCN5 | c.1229A= (p.Asn410=) c.479A= (p.Asn160=) c.1019A= (p.Asn340=) c.1516A= c.*404A= (n.*404A=) c.1079A= (p.Asn360=) c.1241A= (p.Asn414=) | |
| X | g.50086542A>C | CA413185468 | CLCN5 | c.1229A>C (p.Asn410Thr) c.479A>C (p.Asn160Thr) c.1019A>C (p.Asn340Thr) c.1516A>C c.*404A>C (n.*404A>C) c.1079A>C (p.Asn360Thr) c.1241A>C (p.Asn414Thr) | |
| X | g.50086542A>G | CA413185469 | CLCN5 | c.1229A>G (p.Asn410Ser) c.479A>G (p.Asn160Ser) c.1019A>G (p.Asn340Ser) c.1516A>G c.*404A>G (n.*404A>G) c.1079A>G (p.Asn360Ser) c.1241A>G (p.Asn414Ser) | |
| X | g.50086542A>T | CA413185470 | CLCN5 | c.1229A>T (p.Asn410Ile) c.479A>T (p.Asn160Ile) c.1019A>T (p.Asn340Ile) c.1516A>T c.*404A>T (n.*404A>T) c.1079A>T (p.Asn360Ile) c.1241A>T (p.Asn414Ile) | dbSNP |
| X | g.50086543C>A | CA343836 | CLCN5 | c.1230C>A (p.Asn410Lys) c.480C>A (p.Asn160Lys) c.1020C>A (p.Asn340Lys) c.1517C>A c.*405C>A (n.*405C>A) c.1080C>A (p.Asn360Lys) c.1242C>A (p.Asn414Lys) | ClinVar dbSNP |
| X | g.50086543C= | CA2428768898 | CLCN5 | c.1230C= (p.Asn410=) c.480C= (p.Asn160=) c.1020C= (p.Asn340=) c.1517C= c.*405C= (n.*405C=) c.1080C= (p.Asn360=) c.1242C= (p.Asn414=) | |
| X | g.50086543C>G | CA413185471 | CLCN5 | c.1230C>G (p.Asn410Lys) c.480C>G (p.Asn160Lys) c.1020C>G (p.Asn340Lys) c.1517C>G c.*405C>G (n.*405C>G) c.1080C>G (p.Asn360Lys) c.1242C>G (p.Asn414Lys) | |
| X | g.50086543C>T | CA516678476 | CLCN5 | c.1230C>T (p.Asn410=) c.480C>T (p.Asn160=) c.1020C>T (p.Asn340=) c.1517C>T c.*405C>T (n.*405C>T) c.1080C>T (p.Asn360=) c.1242C>T (p.Asn414=) | |
| X | g.50086544A= | CA2428768899 | CLCN5 | c.1231A= (p.Ile411=) c.481A= (p.Ile161=) c.1021A= (p.Ile341=) c.1518A= c.*406A= (n.*406A=) c.1081A= (p.Ile361=) c.1243A= (p.Ile415=) | |
| X | g.50086544A>C | CA413185472 | CLCN5 | c.1231A>C (p.Ile411Leu) c.481A>C (p.Ile161Leu) c.1021A>C (p.Ile341Leu) c.1518A>C c.*406A>C (n.*406A>C) c.1081A>C (p.Ile361Leu) c.1243A>C (p.Ile415Leu) | |
| X | g.50086544A>G | CA413185474 | CLCN5 | c.1231A>G (p.Ile411Val) c.481A>G (p.Ile161Val) c.1021A>G (p.Ile341Val) c.1518A>G c.*406A>G (n.*406A>G) c.1081A>G (p.Ile361Val) c.1243A>G (p.Ile415Val) | dbSNP |
| X | g.50086544A>T | CA413185473 | CLCN5 | c.1231A>T (p.Ile411Phe) c.481A>T (p.Ile161Phe) c.1021A>T (p.Ile341Phe) c.1518A>T c.*406A>T (n.*406A>T) c.1081A>T (p.Ile361Phe) c.1243A>T (p.Ile415Phe) | |
| X | g.50086545T>A | CA413185475 | CLCN5 | c.1232T>A (p.Ile411Asn) c.482T>A (p.Ile161Asn) c.1022T>A (p.Ile341Asn) c.1519T>A c.*407T>A (n.*407T>A) c.1082T>A (p.Ile361Asn) c.1244T>A (p.Ile415Asn) | |
| X | g.50086545T>C | CA413185476 | CLCN5 | c.1232T>C (p.Ile411Thr) c.482T>C (p.Ile161Thr) c.1022T>C (p.Ile341Thr) c.1519T>C c.*407T>C (n.*407T>C) c.1082T>C (p.Ile361Thr) c.1244T>C (p.Ile415Thr) | |
| X | g.50086545T>G | CA413185477 | CLCN5 | c.1232T>G (p.Ile411Ser) c.482T>G (p.Ile161Ser) c.1022T>G (p.Ile341Ser) c.1519T>G c.*407T>G (n.*407T>G) c.1082T>G (p.Ile361Ser) c.1244T>G (p.Ile415Ser) | |
| X | g.50086546T>A | CA516678484 | CLCN5 | c.1233T>A (p.Ile411=) c.483T>A (p.Ile161=) c.1023T>A (p.Ile341=) c.1520T>A c.*408T>A (n.*408T>A) c.1083T>A (p.Ile361=) c.1245T>A (p.Ile415=) | |
| X | g.50086546T>C | CA516678485 | CLCN5 | c.1233T>C (p.Ile411=) c.483T>C (p.Ile161=) c.1023T>C (p.Ile341=) c.1520T>C c.*408T>C (n.*408T>C) c.1083T>C (p.Ile361=) c.1245T>C (p.Ile415=) | |
| X | g.50086546T>G | CA413185478 | CLCN5 | c.1233T>G (p.Ile411Met) c.483T>G (p.Ile161Met) c.1023T>G (p.Ile341Met) c.1520T>G c.*408T>G (n.*408T>G) c.1083T>G (p.Ile361Met) c.1245T>G (p.Ile415Met) | |
| X | g.50086547G>A | CA413185479 | CLCN5 | c.1234G>A (p.Ala412Thr) c.484G>A (p.Ala162Thr) c.1024G>A (p.Ala342Thr) c.1521G>A c.*409G>A (n.*409G>A) c.1084G>A (p.Ala362Thr) c.1246G>A (p.Ala416Thr) | |
| X | g.50086547G>C | CA413185480 | CLCN5 | c.1234G>C (p.Ala412Pro) c.484G>C (p.Ala162Pro) c.1024G>C (p.Ala342Pro) c.1521G>C c.*409G>C (n.*409G>C) c.1084G>C (p.Ala362Pro) c.1246G>C (p.Ala416Pro) | |
| X | g.50086547G>T | CA413185481 | CLCN5 | c.1234G>T (p.Ala412Ser) c.484G>T (p.Ala162Ser) c.1024G>T (p.Ala342Ser) c.1521G>T c.*409G>T (n.*409G>T) c.1084G>T (p.Ala362Ser) c.1246G>T (p.Ala416Ser) | |
| X | g.50086548C>A | CA413185482 | CLCN5 | c.1235C>A (p.Ala412Asp) c.485C>A (p.Ala162Asp) c.1025C>A (p.Ala342Asp) c.1522C>A c.*410C>A (n.*410C>A) c.1085C>A (p.Ala362Asp) c.1247C>A (p.Ala416Asp) | |
| X | g.50086548C>G | CA413185483 | CLCN5 | c.1235C>G (p.Ala412Gly) c.485C>G (p.Ala162Gly) c.1025C>G (p.Ala342Gly) c.1522C>G c.*410C>G (n.*410C>G) c.1085C>G (p.Ala362Gly) c.1247C>G (p.Ala416Gly) | |
| X | g.50086548C>T | CA413185484 | CLCN5 | c.1235C>T (p.Ala412Val) c.485C>T (p.Ala162Val) c.1025C>T (p.Ala342Val) c.1522C>T c.*410C>T (n.*410C>T) c.1085C>T (p.Ala362Val) c.1247C>T (p.Ala416Val) | |
| X | g.50086549C>A | CA516678493 | CLCN5 | c.1236C>A (p.Ala412=) c.486C>A (p.Ala162=) c.1026C>A (p.Ala342=) c.1523C>A c.*411C>A (n.*411C>A) c.1086C>A (p.Ala362=) c.1248C>A (p.Ala416=) | |
| X | g.50086549C= | CA2428768900 | CLCN5 | c.1236C= (p.Ala412=) c.486C= (p.Ala162=) c.1026C= (p.Ala342=) c.1523C= c.*411C= (n.*411C=) c.1086C= (p.Ala362=) c.1248C= (p.Ala416=) | |
| X | g.50086549C>G | CA516678494 | CLCN5 | c.1236C>G (p.Ala412=) c.486C>G (p.Ala162=) c.1026C>G (p.Ala342=) c.1523C>G c.*411C>G (n.*411C>G) c.1086C>G (p.Ala362=) c.1248C>G (p.Ala416=) | |
| X | g.50086549C>T | CA10413850 | CLCN5 | c.1236C>T (p.Ala412=) c.486C>T (p.Ala162=) c.1026C>T (p.Ala342=) c.1523C>T c.*411C>T (n.*411C>T) c.1086C>T (p.Ala362=) c.1248C>T (p.Ala416=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086550T>A | CA413185487 | CLCN5 | c.1237T>A (p.Trp413Arg) c.487T>A (p.Trp163Arg) c.1027T>A (p.Trp343Arg) c.1524T>A c.*412T>A (n.*412T>A) c.1087T>A (p.Trp363Arg) c.1249T>A (p.Trp417Arg) | |
| X | g.50086550T>C | CA413185486 | CLCN5 | c.1237T>C (p.Trp413Arg) c.487T>C (p.Trp163Arg) c.1027T>C (p.Trp343Arg) c.1524T>C c.*412T>C (n.*412T>C) c.1087T>C (p.Trp363Arg) c.1249T>C (p.Trp417Arg) | |
| X | g.50086550T>G | CA413185485 | CLCN5 | c.1237T>G (p.Trp413Gly) c.487T>G (p.Trp163Gly) c.1027T>G (p.Trp343Gly) c.1524T>G c.*412T>G (n.*412T>G) c.1087T>G (p.Trp363Gly) c.1249T>G (p.Trp417Gly) | |
| X | g.50086551G>A | CA121684 | CLCN5 | c.1238G>A (p.Trp413Ter) c.488G>A (p.Trp163Ter) c.1028G>A (p.Trp343Ter) c.1525G>A c.*413G>A (n.*413G>A) c.1088G>A (p.Trp363Ter) c.1250G>A (p.Trp417Ter) | ClinVar dbSNP |
| X | g.50086551G>C | CA413185488 | CLCN5 | c.1238G>C (p.Trp413Ser) c.488G>C (p.Trp163Ser) c.1028G>C (p.Trp343Ser) c.1525G>C c.*413G>C (n.*413G>C) c.1088G>C (p.Trp363Ser) c.1250G>C (p.Trp417Ser) | |
| X | g.50086551G= | CA2428768901 | CLCN5 | c.1238G= (p.Trp413=) c.488G= (p.Trp163=) c.1028G= (p.Trp343=) c.1525G= c.*413G= (n.*413G=) c.1088G= (p.Trp363=) c.1250G= (p.Trp417=) | |
| X | g.50086551G>T | CA413185489 | CLCN5 | c.1238G>T (p.Trp413Leu) c.488G>T (p.Trp163Leu) c.1028G>T (p.Trp343Leu) c.1525G>T c.*413G>T (n.*413G>T) c.1088G>T (p.Trp363Leu) c.1250G>T (p.Trp417Leu) | |
| X | g.50086552G>A | CA413185490 | CLCN5 | c.1239G>A (p.Trp413Ter) c.489G>A (p.Trp163Ter) c.1029G>A (p.Trp343Ter) c.1526G>A c.*414G>A (n.*414G>A) c.1089G>A (p.Trp363Ter) c.1251G>A (p.Trp417Ter) | |
| X | g.50086552G>C | CA413185491 | CLCN5 | c.1239G>C (p.Trp413Cys) c.489G>C (p.Trp163Cys) c.1029G>C (p.Trp343Cys) c.1526G>C c.*414G>C (n.*414G>C) c.1089G>C (p.Trp363Cys) c.1251G>C (p.Trp417Cys) | |
| X | g.50086552G>T | CA413185492 | CLCN5 | c.1239G>T (p.Trp413Cys) c.489G>T (p.Trp163Cys) c.1029G>T (p.Trp343Cys) c.1526G>T c.*414G>T (n.*414G>T) c.1089G>T (p.Trp363Cys) c.1251G>T (p.Trp417Cys) | |
| X | g.50086553T>A | CA413185493 | CLCN5 | c.1240T>A (p.Cys414Ser) c.490T>A (p.Cys164Ser) c.1030T>A (p.Cys344Ser) c.1527T>A c.*415T>A (n.*415T>A) c.1090T>A (p.Cys364Ser) c.1252T>A (p.Cys418Ser) | |
| X | g.50086553T>C | CA413185494 | CLCN5 | c.1240T>C (p.Cys414Arg) c.490T>C (p.Cys164Arg) c.1030T>C (p.Cys344Arg) c.1527T>C c.*415T>C (n.*415T>C) c.1090T>C (p.Cys364Arg) c.1252T>C (p.Cys418Arg) | |
| X | g.50086553T>G | CA413185495 | CLCN5 | c.1240T>G (p.Cys414Gly) c.490T>G (p.Cys164Gly) c.1030T>G (p.Cys344Gly) c.1527T>G c.*415T>G (n.*415T>G) c.1090T>G (p.Cys364Gly) c.1252T>G (p.Cys418Gly) | |
| X | g.50086554G>A | CA413185496 | CLCN5 | c.1241G>A (p.Cys414Tyr) c.491G>A (p.Cys164Tyr) c.1031G>A (p.Cys344Tyr) c.1528G>A c.*416G>A (n.*416G>A) c.1091G>A (p.Cys364Tyr) c.1253G>A (p.Cys418Tyr) | |
| X | g.50086554G>C | CA413185497 | CLCN5 | c.1241G>C (p.Cys414Ser) c.491G>C (p.Cys164Ser) c.1031G>C (p.Cys344Ser) c.1528G>C c.*416G>C (n.*416G>C) c.1091G>C (p.Cys364Ser) c.1253G>C (p.Cys418Ser) | |
| X | g.50086554G>T | CA413185498 | CLCN5 | c.1241G>T (p.Cys414Phe) c.491G>T (p.Cys164Phe) c.1031G>T (p.Cys344Phe) c.1528G>T c.*416G>T (n.*416G>T) c.1091G>T (p.Cys364Phe) c.1253G>T (p.Cys418Phe) | |
| X | g.50086555T>A | CA413185500 | CLCN5 | c.1242T>A (p.Cys414Ter) c.492T>A (p.Cys164Ter) c.1032T>A (p.Cys344Ter) c.1529T>A c.*417T>A (n.*417T>A) c.1092T>A (p.Cys364Ter) c.1254T>A (p.Cys418Ter) | |
| X | g.50086555T>C | CA516678503 | CLCN5 | c.1242T>C (p.Cys414=) c.492T>C (p.Cys164=) c.1032T>C (p.Cys344=) c.1529T>C c.*417T>C (n.*417T>C) c.1092T>C (p.Cys364=) c.1254T>C (p.Cys418=) | dbSNP |
| X | g.50086555T>G | CA413185499 | CLCN5 | c.1242T>G (p.Cys414Trp) c.492T>G (p.Cys164Trp) c.1032T>G (p.Cys344Trp) c.1529T>G c.*417T>G (n.*417T>G) c.1092T>G (p.Cys364Trp) c.1254T>G (p.Cys418Trp) | |
| X | g.50086555T= | CA2428768902 | CLCN5 | c.1242T= (p.Cys414=) c.492T= (p.Cys164=) c.1032T= (p.Cys344=) c.1529T= c.*417T= (n.*417T=) c.1092T= (p.Cys364=) c.1254T= (p.Cys418=) | |
| X | g.50086556C>A | CA516678505 | CLCN5 | c.1243C>A (p.Arg415=) c.493C>A (p.Arg165=) c.1033C>A (p.Arg345=) c.1530C>A c.*418C>A (n.*418C>A) c.1093C>A (p.Arg365=) c.1255C>A (p.Arg419=) | |
| X | g.50086556C= | CA2428768903 | CLCN5 | c.1243C= (p.Arg415=) c.493C= (p.Arg165=) c.1033C= (p.Arg345=) c.1530C= c.*418C= (n.*418C=) c.1093C= (p.Arg365=) c.1255C= (p.Arg419=) | |
| X | g.50086556C>G | CA413185501 | CLCN5 | c.1243C>G (p.Arg415Gly) c.493C>G (p.Arg165Gly) c.1033C>G (p.Arg345Gly) c.1530C>G c.*418C>G (n.*418C>G) c.1093C>G (p.Arg365Gly) c.1255C>G (p.Arg419Gly) | |
| X | g.50086556C>T | CA10413851 | CLCN5 | c.1243C>T (p.Arg415Trp) c.493C>T (p.Arg165Trp) c.1033C>T (p.Arg345Trp) c.1530C>T c.*418C>T (n.*418C>T) c.1093C>T (p.Arg365Trp) c.1255C>T (p.Arg419Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>A | CA10413852 | CLCN5 | c.1244G>A (p.Arg415Gln) c.494G>A (p.Arg165Gln) c.1034G>A (p.Arg345Gln) c.1531G>A c.*419G>A (n.*419G>A) c.1094G>A (p.Arg365Gln) c.1256G>A (p.Arg419Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>C | CA413185502 | CLCN5 | c.1244G>C (p.Arg415Pro) c.494G>C (p.Arg165Pro) c.1034G>C (p.Arg345Pro) c.1531G>C c.*419G>C (n.*419G>C) c.1094G>C (p.Arg365Pro) c.1256G>C (p.Arg419Pro) | |
| X | g.50086557G= | CA2428768904 | CLCN5 | c.1244G= (p.Arg415=) c.494G= (p.Arg165=) c.1034G= (p.Arg345=) c.1531G= c.*419G= (n.*419G=) c.1094G= (p.Arg365=) c.1256G= (p.Arg419=) | |
| X | g.50086557G>T | CA10413853 | CLCN5 | c.1244G>T (p.Arg415Leu) c.494G>T (p.Arg165Leu) c.1034G>T (p.Arg345Leu) c.1531G>T c.*419G>T (n.*419G>T) c.1094G>T (p.Arg365Leu) c.1256G>T (p.Arg419Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086558G>A | CA516678510 | CLCN5 | c.1245G>A (p.Arg415=) c.495G>A (p.Arg165=) c.1035G>A (p.Arg345=) c.1532G>A c.*420G>A (n.*420G>A) c.1095G>A (p.Arg365=) c.1257G>A (p.Arg419=) | |
| X | g.50086558G>C | CA516678512 | CLCN5 | c.1245G>C (p.Arg415=) c.495G>C (p.Arg165=) c.1035G>C (p.Arg345=) c.1532G>C c.*420G>C (n.*420G>C) c.1095G>C (p.Arg365=) c.1257G>C (p.Arg419=) | |
| X | g.50086558G>T | CA516678511 | CLCN5 | c.1245G>T (p.Arg415=) c.495G>T (p.Arg165=) c.1035G>T (p.Arg345=) c.1532G>T c.*420G>T (n.*420G>T) c.1095G>T (p.Arg365=) c.1257G>T (p.Arg419=) | gnomAD v4 |
| X | g.50086559A>C | CA413185503 | CLCN5 | c.1246A>C (p.Lys416Gln) c.496A>C (p.Lys166Gln) c.1036A>C (p.Lys346Gln) c.1533A>C c.*421A>C (n.*421A>C) c.1096A>C (p.Lys366Gln) c.1258A>C (p.Lys420Gln) | |
| X | g.50086559A>G | CA413185504 | CLCN5 | c.1246A>G (p.Lys416Glu) c.496A>G (p.Lys166Glu) c.1036A>G (p.Lys346Glu) c.1533A>G c.*421A>G (n.*421A>G) c.1096A>G (p.Lys366Glu) c.1258A>G (p.Lys420Glu) | |
| X | g.50086559A>T | CA413185505 | CLCN5 | c.1246A>T (p.Lys416Ter) c.496A>T (p.Lys166Ter) c.1036A>T (p.Lys346Ter) c.1533A>T c.*421A>T (n.*421A>T) c.1096A>T (p.Lys366Ter) c.1258A>T (p.Lys420Ter) | |
| X | g.50086560A>C | CA413185506 | CLCN5 | c.1247A>C (p.Lys416Thr) c.497A>C (p.Lys166Thr) c.1037A>C (p.Lys346Thr) c.1534A>C c.*422A>C (n.*422A>C) c.1097A>C (p.Lys366Thr) c.1259A>C (p.Lys420Thr) | |
| X | g.50086560A>G | CA413185508 | CLCN5 | c.1247A>G (p.Lys416Arg) c.497A>G (p.Lys166Arg) c.1037A>G (p.Lys346Arg) c.1534A>G c.*422A>G (n.*422A>G) c.1097A>G (p.Lys366Arg) c.1259A>G (p.Lys420Arg) | |
| X | g.50086560A>T | CA413185507 | CLCN5 | c.1247A>T (p.Lys416Met) c.497A>T (p.Lys166Met) c.1037A>T (p.Lys346Met) c.1534A>T c.*422A>T (n.*422A>T) c.1097A>T (p.Lys366Met) c.1259A>T (p.Lys420Met) | |
| X | g.50086561G>A | CA516678517 | CLCN5 | c.1248G>A (p.Lys416=) c.498G>A (p.Lys166=) c.1038G>A (p.Lys346=) c.1535G>A c.*423G>A (n.*423G>A) c.1098G>A (p.Lys366=) c.1260G>A (p.Lys420=) | |
| X | g.50086561G>C | CA413185509 | CLCN5 | c.1248G>C (p.Lys416Asn) c.498G>C (p.Lys166Asn) c.1038G>C (p.Lys346Asn) c.1535G>C c.*423G>C (n.*423G>C) c.1098G>C (p.Lys366Asn) c.1260G>C (p.Lys420Asn) | |
| X | g.50086561G>T | CA413185510 | CLCN5 | c.1248G>T (p.Lys416Asn) c.498G>T (p.Lys166Asn) c.1038G>T (p.Lys346Asn) c.1535G>T c.*423G>T (n.*423G>T) c.1098G>T (p.Lys366Asn) c.1260G>T (p.Lys420Asn) | |
| X | g.50086562C>A | CA516678521 | CLCN5 | c.1249C>A (p.Arg417=) c.499C>A (p.Arg167=) c.1039C>A (p.Arg347=) c.1536C>A c.*424C>A (n.*424C>A) c.1099C>A (p.Arg367=) c.1261C>A (p.Arg421=) | |
| X | g.50086562C= | CA2428768905 | CLCN5 | c.1249C= (p.Arg417=) c.499C= (p.Arg167=) c.1039C= (p.Arg347=) c.1536C= c.*424C= (n.*424C=) c.1099C= (p.Arg367=) c.1261C= (p.Arg421=) | |
| X | g.50086562C>G | CA413185511 | CLCN5 | c.1249C>G (p.Arg417Gly) c.499C>G (p.Arg167Gly) c.1039C>G (p.Arg347Gly) c.1536C>G c.*424C>G (n.*424C>G) c.1099C>G (p.Arg367Gly) c.1261C>G (p.Arg421Gly) | |
| X | g.50086562C>T | CA347316 | CLCN5 | c.1249C>T (p.Arg417Ter) c.499C>T (p.Arg167Ter) c.1039C>T (p.Arg347Ter) c.1536C>T c.*424C>T (n.*424C>T) c.1099C>T (p.Arg367Ter) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.50086563G>A | CA413185512 | CLCN5 | c.1250G>A (p.Arg417Gln) c.500G>A (p.Arg167Gln) c.1040G>A (p.Arg347Gln) c.1537G>A c.*425G>A (n.*425G>A) c.1100G>A (p.Arg367Gln) c.1262G>A (p.Arg421Gln) | gnomAD v4 |
| X | g.50086563G>C | CA413185514 | CLCN5 | c.1250G>C (p.Arg417Pro) c.500G>C (p.Arg167Pro) c.1040G>C (p.Arg347Pro) c.1537G>C c.*425G>C (n.*425G>C) c.1100G>C (p.Arg367Pro) c.1262G>C (p.Arg421Pro) | |
| X | g.50086563G>T | CA413185513 | CLCN5 | c.1250G>T (p.Arg417Leu) c.500G>T (p.Arg167Leu) c.1040G>T (p.Arg347Leu) c.1537G>T c.*425G>T (n.*425G>T) c.1100G>T (p.Arg367Leu) c.1262G>T (p.Arg421Leu) | |
| X | g.50086564A= | CA2428768906 | CLCN5 | c.1251A= (p.Arg417=) c.501A= (p.Arg167=) c.1041A= (p.Arg347=) c.1538A= c.*426A= (n.*426A=) c.1101A= (p.Arg367=) c.1263A= (p.Arg421=) | |
| X | g.50086564A>C | CA516678525 | CLCN5 | c.1251A>C (p.Arg417=) c.501A>C (p.Arg167=) c.1041A>C (p.Arg347=) c.1538A>C c.*426A>C (n.*426A>C) c.1101A>C (p.Arg367=) c.1263A>C (p.Arg421=) | |
| X | g.50086564A>G | CA10413854 | CLCN5 | c.1251A>G (p.Arg417=) c.501A>G (p.Arg167=) c.1041A>G (p.Arg347=) c.1538A>G c.*426A>G (n.*426A>G) c.1101A>G (p.Arg367=) c.1263A>G (p.Arg421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086564A>T | CA516678527 | CLCN5 | c.1251A>T (p.Arg417=) c.501A>T (p.Arg167=) c.1041A>T (p.Arg347=) c.1538A>T c.*426A>T (n.*426A>T) c.1101A>T (p.Arg367=) c.1263A>T (p.Arg421=) | |
| X | g.50086565A>C | CA413185515 | CLCN5 | c.1252A>C (p.Lys418Gln) c.502A>C (p.Lys168Gln) c.1042A>C (p.Lys348Gln) c.1539A>C c.*427A>C (n.*427A>C) c.1102A>C (p.Lys368Gln) c.1264A>C (p.Lys422Gln) | |
| X | g.50086565A>G | CA413185516 | CLCN5 | c.1252A>G (p.Lys418Glu) c.502A>G (p.Lys168Glu) c.1042A>G (p.Lys348Glu) c.1539A>G c.*427A>G (n.*427A>G) c.1102A>G (p.Lys368Glu) c.1264A>G (p.Lys422Glu) | |
| X | g.50086565A>T | CA413185517 | CLCN5 | c.1252A>T (p.Lys418Ter) c.502A>T (p.Lys168Ter) c.1042A>T (p.Lys348Ter) c.1539A>T c.*427A>T (n.*427A>T) c.1102A>T (p.Lys368Ter) c.1264A>T (p.Lys422Ter) | |
| X | g.50086566A>C | CA413185518 | CLCN5 | c.1253A>C (p.Lys418Thr) c.503A>C (p.Lys168Thr) c.1043A>C (p.Lys348Thr) c.1540A>C c.*428A>C (n.*428A>C) c.1103A>C (p.Lys368Thr) c.1265A>C (p.Lys422Thr) | |
| X | g.50086566A>G | CA413185519 | CLCN5 | c.1253A>G (p.Lys418Arg) c.503A>G (p.Lys168Arg) c.1043A>G (p.Lys348Arg) c.1540A>G c.*428A>G (n.*428A>G) c.1103A>G (p.Lys368Arg) c.1265A>G (p.Lys422Arg) | |
| X | g.50086566A>T | CA413185520 | CLCN5 | c.1253A>T (p.Lys418Met) c.503A>T (p.Lys168Met) c.1043A>T (p.Lys348Met) c.1540A>T c.*428A>T (n.*428A>T) c.1103A>T (p.Lys368Met) c.1265A>T (p.Lys422Met) | |
| X | g.50086567G>A | CA516678529 | CLCN5 | c.1254G>A (p.Lys418=) c.504G>A (p.Lys168=) c.1044G>A (p.Lys348=) c.1541G>A c.*429G>A (n.*429G>A) c.1104G>A (p.Lys368=) c.1266G>A (p.Lys422=) | |
| X | g.50086567G>C | CA413185521 | CLCN5 | c.1254G>C (p.Lys418Asn) c.504G>C (p.Lys168Asn) c.1044G>C (p.Lys348Asn) c.1541G>C c.*429G>C (n.*429G>C) c.1104G>C (p.Lys368Asn) c.1266G>C (p.Lys422Asn) | |
| X | g.50086567G>T | CA413185522 | CLCN5 | c.1254G>T (p.Lys418Asn) c.504G>T (p.Lys168Asn) c.1044G>T (p.Lys348Asn) c.1541G>T c.*429G>T (n.*429G>T) c.1104G>T (p.Lys368Asn) c.1266G>T (p.Lys422Asn) | COSMIC |
| X | g.50086568A= | CA2428768907 | CLCN5 | c.1255A= (p.Thr419=) c.505A= (p.Thr169=) c.1045A= (p.Thr349=) c.1542A= c.*430A= (n.*430A=) c.1105A= (p.Thr369=) c.1267A= (p.Thr423=) | |
| X | g.50086568A>C | CA413185523 | CLCN5 | c.1255A>C (p.Thr419Pro) c.505A>C (p.Thr169Pro) c.1045A>C (p.Thr349Pro) c.1542A>C c.*430A>C (n.*430A>C) c.1105A>C (p.Thr369Pro) c.1267A>C (p.Thr423Pro) | |
| X | g.50086568A>G | CA413185524 | CLCN5 | c.1255A>G (p.Thr419Ala) c.505A>G (p.Thr169Ala) c.1045A>G (p.Thr349Ala) c.1542A>G c.*430A>G (n.*430A>G) c.1105A>G (p.Thr369Ala) c.1267A>G (p.Thr423Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086568A>T | CA413185525 | CLCN5 | c.1255A>T (p.Thr419Ser) c.505A>T (p.Thr169Ser) c.1045A>T (p.Thr349Ser) c.1542A>T c.*430A>T (n.*430A>T) c.1105A>T (p.Thr369Ser) c.1267A>T (p.Thr423Ser) | |
| X | g.50086569C>A | CA413185528 | CLCN5 | c.1256C>A (p.Thr419Asn) c.506C>A (p.Thr169Asn) c.1046C>A (p.Thr349Asn) c.1543C>A c.*431C>A (n.*431C>A) c.1106C>A (p.Thr369Asn) c.1268C>A (p.Thr423Asn) | |
| X | g.50086569C>G | CA413185527 | CLCN5 | c.1256C>G (p.Thr419Ser) c.506C>G (p.Thr169Ser) c.1046C>G (p.Thr349Ser) c.1543C>G c.*431C>G (n.*431C>G) c.1106C>G (p.Thr369Ser) c.1268C>G (p.Thr423Ser) | gnomAD v4 |
| X | g.50086569C>T | CA413185526 | CLCN5 | c.1256C>T (p.Thr419Ile) c.506C>T (p.Thr169Ile) c.1046C>T (p.Thr349Ile) c.1543C>T c.*431C>T (n.*431C>T) c.1106C>T (p.Thr369Ile) c.1268C>T (p.Thr423Ile) | |
| X | g.50086570C>A | CA516678534 | CLCN5 | c.1257C>A (p.Thr419=) c.507C>A (p.Thr169=) c.1047C>A (p.Thr349=) c.1544C>A c.*432C>A (n.*432C>A) c.1107C>A (p.Thr369=) c.1269C>A (p.Thr423=) | |
| X | g.50086570C= | CA2428768908 | CLCN5 | c.1257C= (p.Thr419=) c.507C= (p.Thr169=) c.1047C= (p.Thr349=) c.1544C= c.*432C= (n.*432C=) c.1107C= (p.Thr369=) c.1269C= (p.Thr423=) | |
| X | g.50086570C>G | CA516678535 | CLCN5 | c.1257C>G (p.Thr419=) c.507C>G (p.Thr169=) c.1047C>G (p.Thr349=) c.1544C>G c.*432C>G (n.*432C>G) c.1107C>G (p.Thr369=) c.1269C>G (p.Thr423=) | |
| X | g.50086570C>T | CA10413855 | CLCN5 | c.1257C>T (p.Thr419=) c.507C>T (p.Thr169=) c.1047C>T (p.Thr349=) c.1544C>T c.*432C>T (n.*432C>T) c.1107C>T (p.Thr369=) c.1269C>T (p.Thr423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086571A>C | CA413185529 | CLCN5 | c.1258A>C (p.Thr420Pro) c.508A>C (p.Thr170Pro) c.1048A>C (p.Thr350Pro) c.1545A>C c.*433A>C (n.*433A>C) c.1108A>C (p.Thr370Pro) c.1270A>C (p.Thr424Pro) | |
| X | g.50086571A>G | CA413185530 | CLCN5 | c.1258A>G (p.Thr420Ala) c.508A>G (p.Thr170Ala) c.1048A>G (p.Thr350Ala) c.1545A>G c.*433A>G (n.*433A>G) c.1108A>G (p.Thr370Ala) c.1270A>G (p.Thr424Ala) | |
| X | g.50086571A>T | CA413185531 | CLCN5 | c.1258A>T (p.Thr420Ser) c.508A>T (p.Thr170Ser) c.1048A>T (p.Thr350Ser) c.1545A>T c.*433A>T (n.*433A>T) c.1108A>T (p.Thr370Ser) c.1270A>T (p.Thr424Ser) | |
| X | g.50086572C>A | CA413185532 | CLCN5 | c.1259C>A (p.Thr420Asn) c.509C>A (p.Thr170Asn) c.1049C>A (p.Thr350Asn) c.1546C>A c.*434C>A (n.*434C>A) c.1109C>A (p.Thr370Asn) c.1271C>A (p.Thr424Asn) | |
| X | g.50086572C>G | CA413185533 | CLCN5 | c.1259C>G (p.Thr420Ser) c.509C>G (p.Thr170Ser) c.1049C>G (p.Thr350Ser) c.1546C>G c.*434C>G (n.*434C>G) c.1109C>G (p.Thr370Ser) c.1271C>G (p.Thr424Ser) | gnomAD v4 |
| X | g.50086572C>T | CA413185534 | CLCN5 | c.1259C>T (p.Thr420Ile) c.509C>T (p.Thr170Ile) c.1049C>T (p.Thr350Ile) c.1546C>T c.*434C>T (n.*434C>T) c.1109C>T (p.Thr370Ile) c.1271C>T (p.Thr424Ile) | |
| X | g.50086573C>A | CA516678537 | CLCN5 | c.1260C>A (p.Thr420=) c.510C>A (p.Thr170=) c.1050C>A (p.Thr350=) c.1547C>A c.*435C>A (n.*435C>A) c.1110C>A (p.Thr370=) c.1272C>A (p.Thr424=) | |
| X | g.50086573C>G | CA516678538 | CLCN5 | c.1260C>G (p.Thr420=) c.510C>G (p.Thr170=) c.1050C>G (p.Thr350=) c.1547C>G c.*435C>G (n.*435C>G) c.1110C>G (p.Thr370=) c.1272C>G (p.Thr424=) | |
| X | g.50086573C>T | CA516678539 | CLCN5 | c.1260C>T (p.Thr420=) c.510C>T (p.Thr170=) c.1050C>T (p.Thr350=) c.1547C>T c.*435C>T (n.*435C>T) c.1110C>T (p.Thr370=) c.1272C>T (p.Thr424=) | |
| X | g.50086574C>A | CA413185535 | CLCN5 | c.1261C>A (p.Gln421Lys) c.511C>A (p.Gln171Lys) c.1051C>A (p.Gln351Lys) c.1548C>A c.*436C>A (n.*436C>A) c.1111C>A (p.Gln371Lys) c.1273C>A (p.Gln425Lys) | |
| X | g.50086574C>G | CA413185536 | CLCN5 | c.1261C>G (p.Gln421Glu) c.511C>G (p.Gln171Glu) c.1051C>G (p.Gln351Glu) c.1548C>G c.*436C>G (n.*436C>G) c.1111C>G (p.Gln371Glu) c.1273C>G (p.Gln425Glu) | |
| X | g.50086574C>T | CA413185537 | CLCN5 | c.1261C>T (p.Gln421Ter) c.511C>T (p.Gln171Ter) c.1051C>T (p.Gln351Ter) c.1548C>T c.*436C>T (n.*436C>T) c.1111C>T (p.Gln371Ter) c.1273C>T (p.Gln425Ter) | ClinVar |
| X | g.50086575A= | CA2428768909 | CLCN5 | c.1262A= (p.Gln421=) c.512A= (p.Gln171=) c.1052A= (p.Gln351=) c.1549A= c.*437A= (n.*437A=) c.1112A= (p.Gln371=) c.1274A= (p.Gln425=) | |
| X | g.50086575A>C | CA413185538 | CLCN5 | c.1262A>C (p.Gln421Pro) c.512A>C (p.Gln171Pro) c.1052A>C (p.Gln351Pro) c.1549A>C c.*437A>C (n.*437A>C) c.1112A>C (p.Gln371Pro) c.1274A>C (p.Gln425Pro) | |
| X | g.50086575A>G | CA329782443 | CLCN5 | c.1262A>G (p.Gln421Arg) c.512A>G (p.Gln171Arg) c.1052A>G (p.Gln351Arg) c.1549A>G c.*437A>G (n.*437A>G) c.1112A>G (p.Gln371Arg) c.1274A>G (p.Gln425Arg) | dbSNP gnomAD v4 |
| X | g.50086575A>T | CA413185539 | CLCN5 | c.1262A>T (p.Gln421Leu) c.512A>T (p.Gln171Leu) c.1052A>T (p.Gln351Leu) c.1549A>T c.*437A>T (n.*437A>T) c.1112A>T (p.Gln371Leu) c.1274A>T (p.Gln425Leu) | |
| X | g.50086576G>A | CA516678541 | CLCN5 | c.1263G>A (p.Gln421=) c.513G>A (p.Gln171=) c.1053G>A (p.Gln351=) c.1550G>A c.*438G>A (n.*438G>A) c.1113G>A (p.Gln371=) c.1275G>A (p.Gln425=) | dbSNP gnomAD v2 |
| X | g.50086576G>C | CA413185540 | CLCN5 | c.1263G>C (p.Gln421His) c.513G>C (p.Gln171His) c.1053G>C (p.Gln351His) c.1550G>C c.*438G>C (n.*438G>C) c.1113G>C (p.Gln371His) c.1275G>C (p.Gln425His) | |
| X | g.50086576G= | CA2428768910 | CLCN5 | c.1263G= (p.Gln421=) c.513G= (p.Gln171=) c.1053G= (p.Gln351=) c.1550G= c.*438G= (n.*438G=) c.1113G= (p.Gln371=) c.1275G= (p.Gln425=) | |
| X | g.50086576G>T | CA413185541 | CLCN5 | c.1263G>T (p.Gln421His) c.513G>T (p.Gln171His) c.1053G>T (p.Gln351His) c.1550G>T c.*438G>T (n.*438G>T) c.1113G>T (p.Gln371His) c.1275G>T (p.Gln425His) | gnomAD v4 |