| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086451T>A | CA413185269 | CLCN5 | c.1138T>A (p.Phe380Ile) c.388T>A (p.Phe130Ile) c.928T>A (p.Phe310Ile) c.1425T>A c.*313T>A (n.*313T>A) c.988T>A (p.Phe330Ile) c.1150T>A (p.Phe384Ile) | |
| X | g.50086451T>C | CA413185270 | CLCN5 | c.1138T>C (p.Phe380Leu) c.388T>C (p.Phe130Leu) c.928T>C (p.Phe310Leu) c.1425T>C c.*313T>C (n.*313T>C) c.988T>C (p.Phe330Leu) c.1150T>C (p.Phe384Leu) | |
| X | g.50086451T>G | CA413185271 | CLCN5 | c.1138T>G (p.Phe380Val) c.388T>G (p.Phe130Val) c.928T>G (p.Phe310Val) c.1425T>G c.*313T>G (n.*313T>G) c.988T>G (p.Phe330Val) c.1150T>G (p.Phe384Val) | |
| X | g.50086452T>A | CA413185272 | CLCN5 | c.1139T>A (p.Phe380Tyr) c.389T>A (p.Phe130Tyr) c.929T>A (p.Phe310Tyr) c.1426T>A c.*314T>A (n.*314T>A) c.989T>A (p.Phe330Tyr) c.1151T>A (p.Phe384Tyr) | dbSNP |
| X | g.50086452T>C | CA413185273 | CLCN5 | c.1139T>C (p.Phe380Ser) c.389T>C (p.Phe130Ser) c.929T>C (p.Phe310Ser) c.1426T>C c.*314T>C (n.*314T>C) c.989T>C (p.Phe330Ser) c.1151T>C (p.Phe384Ser) | |
| X | g.50086452T>G | CA413185274 | CLCN5 | c.1139T>G (p.Phe380Cys) c.389T>G (p.Phe130Cys) c.929T>G (p.Phe310Cys) c.1426T>G c.*314T>G (n.*314T>G) c.989T>G (p.Phe330Cys) c.1151T>G (p.Phe384Cys) | |
| X | g.50086452T= | CA2428768874 | CLCN5 | c.1139T= (p.Phe380=) c.389T= (p.Phe130=) c.929T= (p.Phe310=) c.1426T= c.*314T= (n.*314T=) c.989T= (p.Phe330=) c.1151T= (p.Phe384=) | |
| X | g.50086453T>A | CA413185275 | CLCN5 | c.1140T>A (p.Phe380Leu) c.390T>A (p.Phe130Leu) c.930T>A (p.Phe310Leu) c.1427T>A c.*315T>A (n.*315T>A) c.990T>A (p.Phe330Leu) c.1152T>A (p.Phe384Leu) | |
| X | g.50086453T>C | CA516678246 | CLCN5 | c.1140T>C (p.Phe380=) c.390T>C (p.Phe130=) c.930T>C (p.Phe310=) c.1427T>C c.*315T>C (n.*315T>C) c.990T>C (p.Phe330=) c.1152T>C (p.Phe384=) | |
| X | g.50086453T>G | CA413185276 | CLCN5 | c.1140T>G (p.Phe380Leu) c.390T>G (p.Phe130Leu) c.930T>G (p.Phe310Leu) c.1427T>G c.*315T>G (n.*315T>G) c.990T>G (p.Phe330Leu) c.1152T>G (p.Phe384Leu) | |
| X | g.50086453_50086454delinsA | CA2695233680 | CLCN5 | c.1140_1141delinsA (p.Phe380LeufsTer?) c.390_391delinsA (p.Phe130LeufsTer?) c.930_931delinsA (p.Phe310LeufsTer?) c.1427_1428delinsA c.*315_*316delinsA (n.*315_*316delinsA) c.990_991delinsA (p.Phe330LeufsTer?) c.1152_1153delinsA (p.Phe384LeufsTer?) | |
| X | g.50086454C>A | CA413185277 | CLCN5 | c.1141C>A (p.His381Asn) c.391C>A (p.His131Asn) c.931C>A (p.His311Asn) c.1428C>A c.*316C>A (n.*316C>A) c.991C>A (p.His331Asn) c.1153C>A (p.His385Asn) | |
| X | g.50086454C= | CA2428768875 | CLCN5 | c.1141C= (p.His381=) c.391C= (p.His131=) c.931C= (p.His311=) c.1428C= c.*316C= (n.*316C=) c.991C= (p.His331=) c.1153C= (p.His385=) | |
| X | g.50086454C>G | CA413185278 | CLCN5 | c.1141C>G (p.His381Asp) c.391C>G (p.His131Asp) c.931C>G (p.His311Asp) c.1428C>G c.*316C>G (n.*316C>G) c.991C>G (p.His331Asp) c.1153C>G (p.His385Asp) | |
| X | g.50086454C>T | CA329782442 | CLCN5 | c.1141C>T (p.His381Tyr) c.391C>T (p.His131Tyr) c.931C>T (p.His311Tyr) c.1428C>T c.*316C>T (n.*316C>T) c.991C>T (p.His331Tyr) c.1153C>T (p.His385Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086455del | CA645611540 | CLCN5 | c.1142del (p.His381ProfsTer?) c.392del (p.His131ProfsTer?) c.932del (p.His311ProfsTer?) c.1429del c.*317del (n.*317del) c.992del (p.His331ProfsTer?) c.1154del (p.His385ProfsTer?) | COSMIC COSMIC |
| X | g.50086455A>C | CA413185279 | CLCN5 | c.1142A>C (p.His381Pro) c.392A>C (p.His131Pro) c.932A>C (p.His311Pro) c.1429A>C c.*317A>C (n.*317A>C) c.992A>C (p.His331Pro) c.1154A>C (p.His385Pro) | |
| X | g.50086455A>G | CA413185280 | CLCN5 | c.1142A>G (p.His381Arg) c.392A>G (p.His131Arg) c.932A>G (p.His311Arg) c.1429A>G c.*317A>G (n.*317A>G) c.992A>G (p.His331Arg) c.1154A>G (p.His385Arg) | |
| X | g.50086455A>T | CA413185281 | CLCN5 | c.1142A>T (p.His381Leu) c.392A>T (p.His131Leu) c.932A>T (p.His311Leu) c.1429A>T c.*317A>T (n.*317A>T) c.992A>T (p.His331Leu) c.1154A>T (p.His385Leu) | |
| X | g.50086456C>A | CA413185282 | CLCN5 | c.1143C>A (p.His381Gln) c.393C>A (p.His131Gln) c.933C>A (p.His311Gln) c.1430C>A c.*318C>A (n.*318C>A) c.993C>A (p.His331Gln) c.1155C>A (p.His385Gln) | |
| X | g.50086456C>G | CA413185283 | CLCN5 | c.1143C>G (p.His381Gln) c.393C>G (p.His131Gln) c.933C>G (p.His311Gln) c.1430C>G c.*318C>G (n.*318C>G) c.993C>G (p.His331Gln) c.1155C>G (p.His385Gln) | |
| X | g.50086456C>T | CA516678252 | CLCN5 | c.1143C>T (p.His381=) c.393C>T (p.His131=) c.933C>T (p.His311=) c.1430C>T c.*318C>T (n.*318C>T) c.993C>T (p.His331=) c.1155C>T (p.His385=) | |
| X | g.50086457A>C | CA413185284 | CLCN5 | c.1144A>C (p.Thr382Pro) c.394A>C (p.Thr132Pro) c.934A>C (p.Thr312Pro) c.1431A>C c.*319A>C (n.*319A>C) c.994A>C (p.Thr332Pro) c.1156A>C (p.Thr386Pro) | |
| X | g.50086457A>G | CA413185285 | CLCN5 | c.1144A>G (p.Thr382Ala) c.394A>G (p.Thr132Ala) c.934A>G (p.Thr312Ala) c.1431A>G c.*319A>G (n.*319A>G) c.994A>G (p.Thr332Ala) c.1156A>G (p.Thr386Ala) | |
| X | g.50086457A>T | CA413185286 | CLCN5 | c.1144A>T (p.Thr382Ser) c.394A>T (p.Thr132Ser) c.934A>T (p.Thr312Ser) c.1431A>T c.*319A>T (n.*319A>T) c.994A>T (p.Thr332Ser) c.1156A>T (p.Thr386Ser) | |
| X | g.50086458C>A | CA413185287 | CLCN5 | c.1145C>A (p.Thr382Asn) c.395C>A (p.Thr132Asn) c.935C>A (p.Thr312Asn) c.1432C>A c.*320C>A (n.*320C>A) c.995C>A (p.Thr332Asn) c.1157C>A (p.Thr386Asn) | ClinVar |
| X | g.50086458C>G | CA413185289 | CLCN5 | c.1145C>G (p.Thr382Ser) c.395C>G (p.Thr132Ser) c.935C>G (p.Thr312Ser) c.1432C>G c.*320C>G (n.*320C>G) c.995C>G (p.Thr332Ser) c.1157C>G (p.Thr386Ser) | |
| X | g.50086458C>T | CA413185288 | CLCN5 | c.1145C>T (p.Thr382Ile) c.395C>T (p.Thr132Ile) c.935C>T (p.Thr312Ile) c.1432C>T c.*320C>T (n.*320C>T) c.995C>T (p.Thr332Ile) c.1157C>T (p.Thr386Ile) | |
| X | g.50086461del | CA2695233681 | CLCN5 | c.1148del (p.Pro383HisfsTer?) c.398del (p.Pro133HisfsTer?) c.938del (p.Pro313HisfsTer?) c.1435del c.*323del (n.*323del) c.998del (p.Pro333HisfsTer?) c.1160del (p.Pro387HisfsTer?) | |
| X | g.50086459C>A | CA516678260 | CLCN5 | c.1146C>A (p.Thr382=) c.396C>A (p.Thr132=) c.936C>A (p.Thr312=) c.1433C>A c.*321C>A (n.*321C>A) c.996C>A (p.Thr332=) c.1158C>A (p.Thr386=) | |
| X | g.50086459C>G | CA516678261 | CLCN5 | c.1146C>G (p.Thr382=) c.396C>G (p.Thr132=) c.936C>G (p.Thr312=) c.1433C>G c.*321C>G (n.*321C>G) c.996C>G (p.Thr332=) c.1158C>G (p.Thr386=) | |
| X | g.50086459C>T | CA516678262 | CLCN5 | c.1146C>T (p.Thr382=) c.396C>T (p.Thr132=) c.936C>T (p.Thr312=) c.1433C>T c.*321C>T (n.*321C>T) c.996C>T (p.Thr332=) c.1158C>T (p.Thr386=) | |
| X | g.50086460C>A | CA413185290 | CLCN5 | c.1147C>A (p.Pro383Thr) c.397C>A (p.Pro133Thr) c.937C>A (p.Pro313Thr) c.1434C>A c.*322C>A (n.*322C>A) c.997C>A (p.Pro333Thr) c.1159C>A (p.Pro387Thr) | |
| X | g.50086460C>G | CA413185292 | CLCN5 | c.1147C>G (p.Pro383Ala) c.397C>G (p.Pro133Ala) c.937C>G (p.Pro313Ala) c.1434C>G c.*322C>G (n.*322C>G) c.997C>G (p.Pro333Ala) c.1159C>G (p.Pro387Ala) | gnomAD v4 |
| X | g.50086460C>T | CA413185291 | CLCN5 | c.1147C>T (p.Pro383Ser) c.397C>T (p.Pro133Ser) c.937C>T (p.Pro313Ser) c.1434C>T c.*322C>T (n.*322C>T) c.997C>T (p.Pro333Ser) c.1159C>T (p.Pro387Ser) | |
| X | g.50086461C>A | CA413185293 | CLCN5 | c.1148C>A (p.Pro383Gln) c.398C>A (p.Pro133Gln) c.938C>A (p.Pro313Gln) c.1435C>A c.*323C>A (n.*323C>A) c.998C>A (p.Pro333Gln) c.1160C>A (p.Pro387Gln) | |
| X | g.50086461C>G | CA413185294 | CLCN5 | c.1148C>G (p.Pro383Arg) c.398C>G (p.Pro133Arg) c.938C>G (p.Pro313Arg) c.1435C>G c.*323C>G (n.*323C>G) c.998C>G (p.Pro333Arg) c.1160C>G (p.Pro387Arg) | |
| X | g.50086461C>T | CA413185295 | CLCN5 | c.1148C>T (p.Pro383Leu) c.398C>T (p.Pro133Leu) c.938C>T (p.Pro313Leu) c.1435C>T c.*323C>T (n.*323C>T) c.998C>T (p.Pro333Leu) c.1160C>T (p.Pro387Leu) | gnomAD v4 |
| X | g.50086462A>C | CA516678268 | CLCN5 | c.1149A>C (p.Pro383=) c.399A>C (p.Pro133=) c.939A>C (p.Pro313=) c.1436A>C c.*324A>C (n.*324A>C) c.999A>C (p.Pro333=) c.1161A>C (p.Pro387=) | |
| X | g.50086462A>G | CA516678267 | CLCN5 | c.1149A>G (p.Pro383=) c.399A>G (p.Pro133=) c.939A>G (p.Pro313=) c.1436A>G c.*324A>G (n.*324A>G) c.999A>G (p.Pro333=) c.1161A>G (p.Pro387=) | |
| X | g.50086462A>T | CA516678266 | CLCN5 | c.1149A>T (p.Pro383=) c.399A>T (p.Pro133=) c.939A>T (p.Pro313=) c.1436A>T c.*324A>T (n.*324A>T) c.999A>T (p.Pro333=) c.1161A>T (p.Pro387=) | |
| X | g.50086463T>A | CA413185296 | CLCN5 | c.1150T>A (p.Trp384Arg) c.400T>A (p.Trp134Arg) c.940T>A (p.Trp314Arg) c.1437T>A c.*325T>A (n.*325T>A) c.1000T>A (p.Trp334Arg) c.1162T>A (p.Trp388Arg) | |
| X | g.50086463T>C | CA413185297 | CLCN5 | c.1150T>C (p.Trp384Arg) c.400T>C (p.Trp134Arg) c.940T>C (p.Trp314Arg) c.1437T>C c.*325T>C (n.*325T>C) c.1000T>C (p.Trp334Arg) c.1162T>C (p.Trp388Arg) | ClinVar |
| X | g.50086463T>G | CA413185298 | CLCN5 | c.1150T>G (p.Trp384Gly) c.400T>G (p.Trp134Gly) c.940T>G (p.Trp314Gly) c.1437T>G c.*325T>G (n.*325T>G) c.1000T>G (p.Trp334Gly) c.1162T>G (p.Trp388Gly) | |
| X | g.50086464G>A | CA413185301 | CLCN5 | c.1151G>A (p.Trp384Ter) c.401G>A (p.Trp134Ter) c.941G>A (p.Trp314Ter) c.1438G>A c.*326G>A (n.*326G>A) c.1001G>A (p.Trp334Ter) c.1163G>A (p.Trp388Ter) | |
| X | g.50086464G>C | CA413185300 | CLCN5 | c.1151G>C (p.Trp384Ser) c.401G>C (p.Trp134Ser) c.941G>C (p.Trp314Ser) c.1438G>C c.*326G>C (n.*326G>C) c.1001G>C (p.Trp334Ser) c.1163G>C (p.Trp388Ser) | |
| X | g.50086464G>T | CA413185299 | CLCN5 | c.1151G>T (p.Trp384Leu) c.401G>T (p.Trp134Leu) c.941G>T (p.Trp314Leu) c.1438G>T c.*326G>T (n.*326G>T) c.1001G>T (p.Trp334Leu) c.1163G>T (p.Trp388Leu) | |
| X | g.50086465G>A | CA10413843 | CLCN5 | c.1152G>A (p.Trp384Ter) c.402G>A (p.Trp134Ter) c.942G>A (p.Trp314Ter) c.1439G>A c.*327G>A (n.*327G>A) c.1002G>A (p.Trp334Ter) c.1164G>A (p.Trp388Ter) | dbSNP ExAC gnomAD v2 |
| X | g.50086465G>C | CA413185302 | CLCN5 | c.1152G>C (p.Trp384Cys) c.402G>C (p.Trp134Cys) c.942G>C (p.Trp314Cys) c.1439G>C c.*327G>C (n.*327G>C) c.1002G>C (p.Trp334Cys) c.1164G>C (p.Trp388Cys) | |
| X | g.50086465G= | CA2428768876 | CLCN5 | c.1152G= (p.Trp384=) c.402G= (p.Trp134=) c.942G= (p.Trp314=) c.1439G= c.*327G= (n.*327G=) c.1002G= (p.Trp334=) c.1164G= (p.Trp388=) |