Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143321310_143321395delCA2740094892CLCN1c.434-55_464del
c.202-55_232del
n.521-55_551del
c.141-55_171del
n.536-55_566del
 ClinVar
7g.143321383C>ACA369683388CLCN1c.452C>A (p.Ala151Glu)
c.220C>A
n.539C>A
c.159C>A (p.Arg53=)
n.554C>A
7g.143321383C=CA1748888075CLCN1c.452C= (p.Ala151=)
c.220C=
n.539C=
c.159C= (p.Arg53=)
n.554C=
7g.143321383C>GCA369683391CLCN1c.452C>G (p.Ala151Gly)
c.220C>G
n.539C>G
c.159C>G (p.Arg53=)
n.554C>G
7g.143321383C>TCA4536960CLCN1c.452C>T (p.Ala151Val)
c.220C>T
n.539C>T
c.159C>T (p.Arg53=)
n.554C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321384G>ACA4536961CLCN1c.453G>A (p.Ala151=)
c.221G>A
n.540G>A
c.160G>A (p.Ala54Thr)
n.555G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321384G>CCA458541963CLCN1c.453G>C (p.Ala151=)
c.221G>C
n.540G>C
c.160G>C (p.Ala54Pro)
n.555G>C
7g.143321384G=CA1748888079CLCN1c.453G= (p.Ala151=)
c.221G=
n.540G=
c.160G= (p.Ala54=)
n.555G=
7g.143321384G>TCA458541964CLCN1c.453G>T (p.Ala151=)
c.221G>T
n.540G>T
c.160G>T (p.Ala54Ser)
n.555G>T
7g.143321385C>ACA369683396CLCN1c.454C>A (p.Gln152Lys)
c.222C>A
n.541C>A
c.161C>A (p.Ala54Glu)
n.556C>A
7g.143321385C>GCA369683394CLCN1c.454C>G (p.Gln152Glu)
c.222C>G
n.541C>G
c.161C>G (p.Ala54Gly)
n.556C>G
7g.143321385C>TCA369683392CLCN1c.454C>T (p.Gln152Ter)
c.222C>T
n.541C>T
c.161C>T (p.Ala54Val)
n.556C>T
 gnomAD v4
7g.143321386A>CCA369683399CLCN1c.455A>C (p.Gln152Pro)
c.223A>C
n.542A>C
c.162A>C (p.Ala54=)
n.557A>C
7g.143321386A>GCA369683401CLCN1c.455A>G (p.Gln152Arg)
c.223A>G
n.542A>G
c.162A>G (p.Ala54=)
n.557A>G
7g.143321386A>TCA369683403CLCN1c.455A>T (p.Gln152Leu)
c.223A>T
n.542A>T
c.162A>T (p.Ala54=)
n.557A>T
7g.143321387G>ACA458541968CLCN1c.456G>A (p.Gln152=)
c.224G>A
n.543G>A
c.163G>A (p.Asp55Asn)
n.558G>A
 COSMIC
7g.143321387G>CCA369683405CLCN1c.456G>C (p.Gln152His)
c.224G>C
n.543G>C
c.163G>C (p.Asp55His)
n.558G>C
 gnomAD v4
7g.143321387G>TCA369683406CLCN1c.456G>T (p.Gln152His)
c.224G>T
n.543G>T
c.163G>T (p.Asp55Tyr)
n.558G>T
7g.143321388A>CCA369683407CLCN1c.457A>C (p.Met153Leu)
c.225A>C
n.544A>C
c.164A>C (p.Asp55Ala)
n.559A>C
7g.143321388A>GCA369683409CLCN1c.457A>G (p.Met153Val)
c.225A>G
n.544A>G
c.164A>G (p.Asp55Gly)
n.559A>G
 gnomAD v4
7g.143321388A>TCA369683411CLCN1c.457A>T (p.Met153Leu)
c.225A>T
n.544A>T
c.164A>T (p.Asp55Val)
n.559A>T
7g.143321389T>ACA369683413CLCN1c.458T>A (p.Met153Lys)
c.226T>A
n.545T>A
c.165T>A (p.Asp55Glu)
n.560T>A
7g.143321389T>CCA369683414CLCN1c.458T>C (p.Met153Thr)
c.226T>C
n.545T>C
c.165T>C (p.Asp55=)
n.560T>C
7g.143321389T>GCA369683415CLCN1c.458T>G (p.Met153Arg)
c.226T>G
n.545T>G
c.165T>G (p.Asp55Glu)
n.560T>G
7g.143321390G>ACA4536962CLCN1c.459G>A (p.Met153Ile)
c.227G>A
n.546G>A
c.166G>A (p.Ala56Thr)
n.561G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321390G>CCA369683417CLCN1c.459G>C (p.Met153Ile)
c.227G>C
n.546G>C
c.166G>C (p.Ala56Pro)
n.561G>C
7g.143321390G=CA1748888081CLCN1c.459G= (p.Met153=)
c.227G=
n.546G=
c.166G= (p.Ala56=)
n.561G=
7g.143321390G>TCA369683420CLCN1c.459G>T (p.Met153Ile)
c.227G>T
n.546G>T
c.166G>T (p.Ala56Ser)
n.561G>T
7g.143321391C>ACA369683423CLCN1c.460C>A (p.Gln154Lys)
c.228C>A
n.547C>A
c.167C>A (p.Ala56Glu)
n.562C>A
 gnomAD v4
7g.143321391C>GCA369683427CLCN1c.460C>G (p.Gln154Glu)
c.228C>G
n.547C>G
c.167C>G (p.Ala56Gly)
n.562C>G
7g.143321391C>TCA369683422CLCN1c.460C>T (p.Gln154Ter)
c.228C>T
n.547C>T
c.167C>T (p.Ala56Val)
n.562C>T
7g.143321392A=CA1748888086CLCN1c.461A= (p.Gln154=)
c.229A=
n.548A=
c.168A= (p.Ala56=)
n.563A=
7g.143321392A>CCA369683429CLCN1c.461A>C (p.Gln154Pro)
c.229A>C
n.548A>C
c.168A>C (p.Ala56=)
n.563A>C
7g.143321392A>GCA4536963CLCN1c.461A>G (p.Gln154Arg)
c.229A>G
n.548A>G
c.168A>G (p.Ala56=)
n.563A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321392A>TCA369683430CLCN1c.461A>T (p.Gln154Leu)
c.229A>T
n.548A>T
c.168A>T (p.Ala56=)
n.563A>T
7g.143321393G>ACA458541973CLCN1c.462G>A (p.Gln154=)
c.230G>A
n.549G>A
c.169G>A (p.Ala57Thr)
n.564G>A
 COSMIC
7g.143321393G>CCA4536964CLCN1c.462G>C (p.Gln154His)
c.230G>C
n.549G>C
c.169G>C (p.Ala57Pro)
n.564G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321393G=CA1748888091CLCN1c.462G= (p.Gln154=)
c.230G=
n.549G=
c.169G= (p.Ala57=)
n.564G=
7g.143321393G>TCA369683432CLCN1c.462G>T (p.Gln154His)
c.230G>T
n.549G>T
c.169G>T (p.Ala57Ser)
n.564G>T
7g.143321394C>ACA369683439CLCN1c.463C>A (p.Pro155Thr)
c.231C>A
n.550C>A
c.170C>A (p.Ala57Asp)
n.565C>A
7g.143321394C=CA1748888097CLCN1c.463C= (p.Pro155=)
c.231C=
n.550C=
c.170C= (p.Ala57=)
n.565C=
7g.143321394C>GCA369683436CLCN1c.463C>G (p.Pro155Ala)
c.231C>G
n.550C>G
c.170C>G (p.Ala57Gly)
n.565C>G
7g.143321394C>TCA4536965CLCN1c.463C>T (p.Pro155Ser)
c.231C>T
n.550C>T
c.170C>T (p.Ala57Val)
n.565C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.143321395C>ACA369683443CLCN1c.464C>A (p.Pro155His)
c.232C>A
n.551C>A
c.171C>A (p.Ala57=)
n.566C>A
7g.143321395C>GCA369683446CLCN1c.464C>G (p.Pro155Arg)
c.232C>G
n.551C>G
c.171C>G (p.Ala57=)
n.566C>G
7g.143321395C>TCA369683450CLCN1c.464C>T (p.Pro155Leu)
c.232C>T
n.551C>T
c.171C>T (p.Ala57=)
n.566C>T
7g.143321396C>ACA458541975CLCN1c.465C>A (p.Pro155=)
c.233C>A
n.552C>A
c.172C>A (p.Gln58Lys)
n.567C>A
7g.143321396C=CA1748888099CLCN1c.465C= (p.Pro155=)
c.233C=
n.552C=
c.172C= (p.Gln58=)
n.567C=
7g.143321396C>GCA168255696CLCN1c.465C>G (p.Pro155=)
c.233C>G
n.552C>G
c.172C>G (p.Gln58Glu)
n.567C>G
 dbSNP gnomAD v4
7g.143321396C>TCA458541976CLCN1c.465C>T (p.Pro155=)
c.233C>T
n.552C>T
c.172C>T (p.Gln58Ter)
n.567C>T
7g.143321397A>CCA369683453CLCN1c.466A>C (p.Ser156Arg)
c.234A>C
n.553A>C
c.173A>C (p.Gln58Pro)
n.568A>C
7g.143321397A>GCA369683456CLCN1c.466A>G (p.Ser156Gly)
c.234A>G
n.553A>G
c.173A>G (p.Gln58Arg)
n.568A>G
7g.143321397A>TCA369683459CLCN1c.466A>T (p.Ser156Cys)
c.234A>T
n.553A>T
c.173A>T (p.Gln58Leu)
n.568A>T
7g.143321398G>ACA369683463CLCN1c.467G>A (p.Ser156Asn)
c.235G>A
n.554G>A
c.174G>A (p.Gln58=)
n.569G>A
7g.143321398G>CCA369683469CLCN1c.467G>C (p.Ser156Thr)
c.235G>C
n.554G>C
c.174G>C (p.Gln58His)
n.569G>C
7g.143321398G>TCA369683467CLCN1c.467G>T (p.Ser156Ile)
c.235G>T
n.554G>T
c.174G>T (p.Gln58His)
n.569G>T
7g.143321398_143321399delinsGCCA1748888101CLCN1c.467_468delinsGC (p.Ser156=)
c.235_236delinsGC
n.554_555delinsGC
c.174_175delinsGC (p.Gln58=)
n.569_570delinsGC
7g.143321399C>ACA369683471CLCN1c.468C>A (p.Ser156Arg)
c.236C>A
n.555C>A
c.175C>A (p.Pro59Thr)
n.570C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143321399C=CA1748888106CLCN1c.468C= (p.Ser156=)
c.236C=
n.555C=
c.175C= (p.Pro59=)
n.570C=
7g.143321399C>GCA4536966CLCN1c.468C>G (p.Ser156Arg)
c.236C>G
n.555C>G
c.175C>G (p.Pro59Ala)
n.570C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321399C>TCA458541977CLCN1c.468C>T (p.Ser156=)
c.236C>T
n.555C>T
c.175C>T (p.Pro59Ser)
n.570C>T
7g.143321400delCA658657735CLCN1c.469del (p.Leu157PhefsTer13)
c.237del
n.556del
c.176del (p.Pro59LeufsTer?)
n.571del
 ClinVar dbSNP gnomAD v4
7g.143321400C>ACA369683476CLCN1c.469C>A (p.Leu157Ile)
c.237C>A
n.556C>A
c.176C>A (p.Pro59His)
n.571C>A
7g.143321400C=CA1748888108CLCN1c.469C= (p.Leu157=)
c.237C=
n.556C=
c.176C= (p.Pro59=)
n.571C=
7g.143321400C>GCA369683478CLCN1c.469C>G (p.Leu157Val)
c.237C>G
n.556C>G
c.176C>G (p.Pro59Arg)
n.571C>G
 dbSNP
7g.143321400C>TCA369683480CLCN1c.469C>T (p.Leu157Phe)
c.237C>T
n.556C>T
c.176C>T (p.Pro59Leu)
n.571C>T
7g.143321401T>ACA369683484CLCN1c.470T>A (p.Leu157His)
c.238T>A
n.557T>A
c.177T>A (p.Pro59=)
n.572T>A
7g.143321401T>CCA369683486CLCN1c.470T>C (p.Leu157Pro)
c.238T>C
n.557T>C
c.177T>C (p.Pro59=)
n.572T>C
7g.143321401T>GCA369683488CLCN1c.470T>G (p.Leu157Arg)
c.238T>G
n.557T>G
c.177T>G (p.Pro59=)
n.572T>G
7g.143321402T>ACA458541979CLCN1c.471T>A (p.Leu157=)
c.239T>A
n.558T>A
c.178T>A (p.Ser60Thr)
n.573T>A
7g.143321402T>CCA458541980CLCN1c.471T>C (p.Leu157=)
c.239T>C
n.558T>C
c.178T>C (p.Ser60Pro)
n.573T>C
7g.143321402T>GCA458541981CLCN1c.471T>G (p.Leu157=)
c.239T>G
n.558T>G
c.178T>G (p.Ser60Ala)
n.573T>G
7g.143321403C>ACA369683492CLCN1c.472C>A (p.Pro158Thr)
c.240C>A
n.559C>A
c.179C>A (p.Ser60Tyr)
n.574C>A
7g.143321403C>GCA369683493CLCN1c.472C>G (p.Pro158Ala)
c.240C>G
n.559C>G
c.179C>G (p.Ser60Cys)
n.574C>G
7g.143321403C>TCA369683497CLCN1c.472C>T (p.Pro158Ser)
c.240C>T
n.559C>T
c.179C>T (p.Ser60Phe)
n.574C>T
7g.143321404C>ACA369683500CLCN1c.473C>A (p.Pro158His)
c.241C>A
n.560C>A
c.180C>A (p.Ser60=)
n.575C>A
7g.143321404C>GCA369683505CLCN1c.473C>G (p.Pro158Arg)
c.241C>G
n.560C>G
c.180C>G (p.Ser60=)
n.575C>G
 gnomAD v4
7g.143321404C>TCA369683502CLCN1c.473C>T (p.Pro158Leu)
c.241C>T
n.560C>T
c.180C>T (p.Ser60=)
n.575C>T
7g.143321405T>ACA458541985CLCN1c.474T>A (p.Pro158=)
c.242T>A
n.561T>A
c.181T>A (p.Ser61Thr)
n.576T>A
7g.143321405T>CCA458541986CLCN1c.474T>C (p.Pro158=)
c.242T>C
n.561T>C
c.181T>C (p.Ser61Pro)
n.576T>C
7g.143321405T>GCA458541987CLCN1c.474T>G (p.Pro158=)
c.242T>G
n.561T>G
c.181T>G (p.Ser61Ala)
n.576T>G
7g.143321405_143321406delinsTCCA1748888111CLCN1c.474_475delinsTC (p.Pro158=)
c.242_243delinsTC
n.561_562delinsTC
c.181_182delinsTC (p.Ser61=)
n.576_577delinsTC
7g.143321406delCA1139660299CLCN1c.475del (p.Leu159CysfsTer11)
c.243del
n.562del
c.182del (p.Ser61LeufsTer?)
n.577del
 ClinVar dbSNP
7g.143321406C>ACA369683508CLCN1c.475C>A (p.Leu159Met)
c.243C>A
n.562C>A
c.182C>A (p.Ser61Tyr)
n.577C>A
 COSMIC
7g.143321406C>GCA369683511CLCN1c.475C>G (p.Leu159Val)
c.243C>G
n.562C>G
c.182C>G (p.Ser61Cys)
n.577C>G
7g.143321406C>TCA458541989CLCN1c.475C>T (p.Leu159=)
c.243C>T
n.562C>T
c.182C>T (p.Ser61Phe)
n.577C>T
7g.143321407T>ACA369683516CLCN1c.476T>A (p.Leu159Gln)
c.244T>A
n.563T>A
c.183T>A (p.Ser61=)
n.578T>A
7g.143321407T>CCA369683517CLCN1c.476T>C (p.Leu159Pro)
c.244T>C
n.563T>C
c.183T>C (p.Ser61=)
n.578T>C
7g.143321407T>GCA369683523CLCN1c.476T>G (p.Leu159Arg)
c.244T>G
n.563T>G
c.183T>G (p.Ser61=)
n.578T>G
7g.143321408G>ACA458541990CLCN1c.477G>A (p.Leu159=)
c.245G>A
n.564G>A
c.184G>A (p.Ala62Thr)
n.579G>A
7g.143321408G>CCA458541991CLCN1c.477G>C (p.Leu159=)
c.245G>C
n.564G>C
c.184G>C (p.Ala62Pro)
n.579G>C
 gnomAD v4
7g.143321408G=CA1748888119CLCN1c.477G= (p.Leu159=)
c.245G=
n.564G=
c.184G= (p.Ala62=)
n.579G=
7g.143321408G>TCA458541992CLCN1c.477G>T (p.Leu159=)
c.245G>T
n.564G>T
c.184G>T (p.Ala62Ser)
n.579G>T
 dbSNP
7g.143321409C>ACA369683527CLCN1c.478C>A (p.Gln160Lys)
c.246C>A
n.565C>A
c.185C>A (p.Ala62Glu)
n.580C>A
7g.143321409C=CA1748888124CLCN1c.478C= (p.Gln160=)
c.246C=
n.565C=
c.185C= (p.Ala62=)
n.580C=
7g.143321409C>GCA369683541CLCN1c.478C>G (p.Gln160Glu)
c.246C>G
n.565C>G
c.185C>G (p.Ala62Gly)
n.580C>G
7g.143321409C>TCA369683546CLCN1c.478C>T (p.Gln160Ter)
c.246C>T
n.565C>T
c.185C>T (p.Ala62Val)
n.580C>T
 ClinVar dbSNP gnomAD v4
7g.143321410A=CA1748888129CLCN1c.479A= (p.Gln160=)
c.247A=
n.566A=
c.186A= (p.Ala62=)
n.581A=
7g.143321410A>CCA369683559CLCN1c.479A>C (p.Gln160Pro)
c.247A>C
n.566A>C
c.186A>C (p.Ala62=)
n.581A>C
7g.143321410A>GCA369683561CLCN1c.479A>G (p.Gln160Arg)
c.247A>G
n.566A>G
c.186A>G (p.Ala62=)
n.581A>G
 dbSNP gnomAD v4
7g.143321410A>TCA369683564CLCN1c.479A>T (p.Gln160Leu)
c.247A>T
n.566A>T
c.186A>T (p.Ala62=)
n.581A>T
7g.143321411G>ACA458541996CLCN1c.480G>A (p.Gln160=)
c.248G>A
n.567G>A
c.187G>A (p.Val63Ile)
n.582G>A
 gnomAD v4
7g.143321411G>CCA4536967CLCN1c.480G>C (p.Gln160His)
c.248G>C
n.567G>C
c.187G>C (p.Val63Leu)
n.582G>C
 ClinVar dbSNP ExAC gnomAD v2
7g.143321411G=CA1748888135CLCN1c.480G= (p.Gln160=)
c.248G=
n.567G=
c.187G= (p.Val63=)
n.582G=
7g.143321411G>TCA369683567CLCN1c.480G>T (p.Gln160His)
c.248G>T
n.567G>T
c.187G>T (p.Val63Phe)
n.582G>T
7g.143321412T>ACA369683578CLCN1c.481T>A (p.Phe161Ile)
c.249T>A
n.568T>A
c.188T>A (p.Val63Asp)
n.583T>A
7g.143321412T>CCA369683576CLCN1c.481T>C (p.Phe161Leu)
c.249T>C
n.568T>C
c.188T>C (p.Val63Ala)
n.583T>C
7g.143321412T>GCA369683572CLCN1c.481T>G (p.Phe161Val)
c.249T>G
n.568T>G
c.188T>G (p.Val63Gly)
n.583T>G
7g.143321413T>ACA369683581CLCN1c.482T>A (p.Phe161Tyr)
c.250T>A
n.569T>A
c.189T>A (p.Val63=)
n.584T>A
7g.143321413T>CCA369683584CLCN1c.482T>C (p.Phe161Ser)
c.250T>C
n.569T>C
c.189T>C (p.Val63=)
n.584T>C
7g.143321413T>GCA369683585CLCN1c.482T>G (p.Phe161Cys)
c.250T>G
n.569T>G
c.189T>G (p.Val63=)
n.584T>G
7g.143321414C>ACA369683588CLCN1c.483C>A (p.Phe161Leu)
c.251C>A
n.570C>A
c.190C>A (p.Pro64Thr)
n.585C>A
7g.143321414C=CA1748888140CLCN1c.483C= (p.Phe161=)
c.251C=
n.570C=
c.190C= (p.Pro64=)
n.585C=
7g.143321414C>GCA369683590CLCN1c.483C>G (p.Phe161Leu)
c.251C>G
n.570C>G
c.190C>G (p.Pro64Ala)
n.585C>G
7g.143321414C>TCA458542000CLCN1c.483C>T (p.Phe161=)
c.251C>T
n.570C>T
c.190C>T (p.Pro64Ser)
n.585C>T
 dbSNP gnomAD v4 COSMIC
7g.143321415C>ACA369683595CLCN1c.484C>A (p.Leu162Met)
c.252C>A
n.571C>A
c.191C>A (p.Pro64His)
n.586C>A
7g.143321415C>GCA369683597CLCN1c.484C>G (p.Leu162Val)
c.252C>G
n.571C>G
c.191C>G (p.Pro64Arg)
n.586C>G
7g.143321415C>TCA458542001CLCN1c.484C>T (p.Leu162=)
c.252C>T
n.571C>T
c.191C>T (p.Pro64Leu)
n.586C>T
7g.143321416T>ACA369683598CLCN1c.485T>A (p.Leu162Gln)
c.253T>A
n.572T>A
c.192T>A (p.Pro64=)
n.587T>A
7g.143321416T>CCA369683599CLCN1c.485T>C (p.Leu162Pro)
c.253T>C
n.572T>C
c.192T>C (p.Pro64=)
n.587T>C
 dbSNP gnomAD v4
7g.143321416T>GCA369683600CLCN1c.485T>G (p.Leu162Arg)
c.253T>G
n.572T>G
c.192T>G (p.Pro64=)
n.587T>G
7g.143321416T=CA1748888144CLCN1c.485T= (p.Leu162=)
c.253T=
n.572T=
c.192T= (p.Pro64=)
n.587T=
7g.143321417G>ACA458542002CLCN1c.486G>A (p.Leu162=)
c.254G>A
n.573G>A
c.193G>A (p.Gly65Ser)
n.588G>A
7g.143321417G>CCA458542004CLCN1c.486G>C (p.Leu162=)
c.254G>C
n.573G>C
c.193G>C (p.Gly65Arg)
n.588G>C
7g.143321417G>TCA458542006CLCN1c.486G>T (p.Leu162=)
c.254G>T
n.573G>T
c.193G>T (p.Gly65Cys)
n.588G>T
 gnomAD v4 COSMIC
7g.143321418G>ACA369683602CLCN1c.487G>A (p.Val163Ile)
c.255G>A
n.574G>A
c.194G>A (p.Gly65Asp)
n.589G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143321418G>CCA369683605CLCN1c.487G>C (p.Val163Leu)
c.255G>C
n.574G>C
c.194G>C (p.Gly65Ala)
n.589G>C
7g.143321418G=CA1748888146CLCN1c.487G= (p.Val163=)
c.255G=
n.574G=
c.194G= (p.Gly65=)
n.589G=
7g.143321418G>TCA168255719CLCN1c.487G>T (p.Val163Phe)
c.255G>T
n.574G>T
c.194G>T (p.Gly65Val)
n.589G>T
 dbSNP
7g.143321419T>ACA369683621CLCN1c.488T>A (p.Val163Asp)
c.256T>A
n.575T>A
c.195T>A (p.Gly65=)
n.590T>A
7g.143321419T>CCA369683618CLCN1c.488T>C (p.Val163Ala)
c.256T>C
n.575T>C
c.195T>C (p.Gly65=)
n.590T>C
7g.143321419T>GCA369683609CLCN1c.488T>G (p.Val163Gly)
c.256T>G
n.575T>G
c.195T>G (p.Gly65=)
n.590T>G
7g.143321420C>ACA4536968CLCN1c.489C>A (p.Val163=)
c.257C>A
n.576C>A
c.196C>A (p.Leu66Met)
n.591C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321420C=CA1748888151CLCN1c.489C= (p.Val163=)
c.257C=
n.576C=
c.196C= (p.Leu66=)
n.591C=
7g.143321420C>GCA458542008CLCN1c.489C>G (p.Val163=)
c.257C>G
n.576C>G
c.196C>G (p.Leu66Val)
n.591C>G
7g.143321420C>TCA458542009CLCN1c.489C>T (p.Val163=)
c.257C>T
n.576C>T
c.196C>T (p.Leu66=)
n.591C>T
7g.143321421T>ACA369683627CLCN1c.490T>A (p.Trp164Arg)
c.258T>A
n.577T>A
c.197T>A (p.Leu66Gln)
n.592T>A
7g.143321421T>CCA369683630CLCN1c.490T>C (p.Trp164Arg)
c.258T>C
n.577T>C
c.197T>C (p.Leu66Pro)
n.592T>C
 ClinVar dbSNP
7g.143321421T>GCA369683634CLCN1c.490T>G (p.Trp164Gly)
c.258T>G
n.577T>G
c.197T>G (p.Leu66Arg)
n.592T>G
7g.143321421T=CA1748888152CLCN1c.490T= (p.Trp164=)
c.258T=
n.577T=
c.197T= (p.Leu66=)
n.592T=
7g.143321422G>ACA369683637CLCN1c.491G>A (p.Trp164Ter)
c.259G>A
n.578G>A
c.198G>A (p.Leu66=)
n.593G>A
 COSMIC
7g.143321422G>CCA369683638CLCN1c.491G>C (p.Trp164Ser)
c.259G>C
n.578G>C
c.198G>C (p.Leu66=)
n.593G>C
7g.143321422G>TCA369683649CLCN1c.491G>T (p.Trp164Leu)
c.259G>T
n.578G>T
c.198G>T (p.Leu66=)
n.593G>T
7g.143321423G>ACA369683651CLCN1c.492G>A (p.Trp164Ter)
c.260G>A
n.579G>A
c.199G>A (p.Gly67Ser)
n.594G>A
7g.143321423G>CCA369683653CLCN1c.492G>C (p.Trp164Cys)
c.260G>C
n.579G>C
c.199G>C (p.Gly67Arg)
n.594G>C
7g.143321423G>TCA369683654CLCN1c.492G>T (p.Trp164Cys)
c.260G>T
n.579G>T
c.199G>T (p.Gly67Cys)
n.594G>T
7g.143321424G>ACA369683655CLCN1c.493G>A (p.Val165Ile)
c.261G>A
n.580G>A
c.200G>A (p.Gly67Asp)
n.595G>A
 gnomAD v4 COSMIC
7g.143321424G>CCA369683656CLCN1c.493G>C (p.Val165Leu)
c.261G>C
n.580G>C
c.200G>C (p.Gly67Ala)
n.595G>C
 gnomAD v4
7g.143321424G>TCA369683658CLCN1c.493G>T (p.Val165Phe)
c.261G>T
n.580G>T
c.200G>T (p.Gly67Val)
n.595G>T
7g.143321425T>ACA369683665CLCN1c.494T>A (p.Val165Asp)
c.262T>A
n.581T>A
c.201T>A (p.Gly67=)
n.596T>A
7g.143321425T>CCA369683667CLCN1c.494T>C (p.Val165Ala)
c.262T>C
n.581T>C
c.201T>C (p.Gly67=)
n.596T>C
 gnomAD v4
7g.143321425T>GCA369683661CLCN1c.494T>G (p.Val165Gly)
c.262T>G
n.581T>G
c.201T>G (p.Gly67=)
n.596T>G
 ClinVar dbSNP gnomAD v4
7g.143321425T=CA1748888155CLCN1c.494T= (p.Val165=)
c.262T=
n.581T=
c.201T= (p.Gly67=)
n.596T=
7g.143321426C>ACA458542014CLCN1c.495C>A (p.Val165=)
c.263C>A
n.582C>A
c.202C>A (p.His68Asn)
n.597C>A
 gnomAD v4
7g.143321426C>GCA458542016CLCN1c.495C>G (p.Val165=)
c.263C>G
n.582C>G
c.202C>G (p.His68Asp)
n.597C>G
7g.143321426C>TCA458542018CLCN1c.495C>T (p.Val165=)
c.263C>T
n.582C>T
c.202C>T (p.His68Tyr)
n.597C>T
7g.143321427A=CA1748888158CLCN1c.496A= (p.Thr166=)
c.264A=
n.583A=
c.203A= (p.His68=)
n.598A=
7g.143321427A>CCA369683670CLCN1c.496A>C (p.Thr166Pro)
c.264A>C
n.583A>C
c.203A>C (p.His68Pro)
n.598A>C
7g.143321427A>GCA369683677CLCN1c.496A>G (p.Thr166Ala)
c.264A>G
n.583A>G
c.203A>G (p.His68Arg)
n.598A>G
7g.143321427A>TCA369683678CLCN1c.496A>T (p.Thr166Ser)
c.264A>T
n.583A>T
c.203A>T (p.His68Leu)
n.598A>T
 ClinVar dbSNP gnomAD v4
7g.143321428C>ACA369683683CLCN1c.497C>A (p.Thr166Asn)
c.265C>A
n.584C>A
c.204C>A (p.His68Gln)
n.599C>A
7g.143321428C=CA1748888160CLCN1c.497C= (p.Thr166=)
c.265C=
n.584C=
c.204C= (p.His68=)
n.599C=
7g.143321428C>GCA4536969CLCN1c.497C>G (p.Thr166Ser)
c.265C>G
n.584C>G
c.204C>G (p.His68Gln)
n.599C>G
 ClinVar dbSNP ExAC
7g.143321428C>TCA369683691CLCN1c.497C>T (p.Thr166Ile)
c.265C>T
n.584C>T
c.204C>T (p.His68=)
n.599C>T
7g.143321429C>ACA458542019CLCN1c.498C>A (p.Thr166=)
c.266C>A
n.585C>A
c.205C>A (p.Leu69Ile)
n.600C>A
 gnomAD v4
7g.143321429C>GCA458542020CLCN1c.498C>G (p.Thr166=)
c.266C>G
n.585C>G
c.205C>G (p.Leu69Val)
n.600C>G
7g.143321429C>TCA458542021CLCN1c.498C>T (p.Thr166=)
c.266C>T
n.585C>T
c.205C>T (p.Leu69Phe)
n.600C>T
 ClinVar gnomAD v4
7g.143321430T>ACA369683693CLCN1c.499T>A (p.Phe167Ile)
c.267T>A
n.586T>A
c.206T>A (p.Leu69His)
n.601T>A
7g.143321430T>CCA369683698CLCN1c.499T>C (p.Phe167Leu)
c.267T>C
n.586T>C
c.206T>C (p.Leu69Pro)
n.601T>C
7g.143321430T>GCA369683695CLCN1c.499T>G (p.Phe167Val)
c.267T>G
n.586T>G
c.206T>G (p.Leu69Arg)
n.601T>G
7g.143321431T>ACA369683701CLCN1c.500T>A (p.Phe167Tyr)
c.268T>A
n.587T>A
c.207T>A (p.Leu69=)
n.602T>A
7g.143321431T>CCA369683709CLCN1c.500T>C (p.Phe167Ser)
c.268T>C
n.587T>C
c.207T>C (p.Leu69=)
n.602T>C
 dbSNP
7g.143321431T>GCA369683717CLCN1c.500T>G (p.Phe167Cys)
c.268T>G
n.587T>G
c.207T>G (p.Leu69=)
n.602T>G
7g.143321431T=CA1748888165CLCN1c.500T= (p.Phe167=)
c.268T=
n.587T=
c.207T= (p.Leu69=)
n.602T=
7g.143321432C>ACA369683720CLCN1c.501C>A (p.Phe167Leu)
c.269C>A
n.588C>A
c.208C>A (p.Pro70Thr)
n.603C>A
7g.143321432C=CA1748888173CLCN1c.501C= (p.Phe167=)
c.269C=
n.588C=
c.208C= (p.Pro70=)
n.603C=
7g.143321432C>GCA276129CLCN1c.501C>G (p.Phe167Leu)
c.269C>G
n.588C>G
c.208C>G (p.Pro70Ala)
n.603C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321432C>TCA458542024CLCN1c.501C>T (p.Phe167=)
c.269C>T
n.588C>T
c.208C>T (p.Pro70Ser)
n.603C>T
7g.143321433C>ACA369683732CLCN1c.502C>A (p.Pro168Thr)
c.270C>A
n.589C>A
c.209C>A (p.Pro70His)
n.604C>A
7g.143321433C>GCA369683730CLCN1c.502C>G (p.Pro168Ala)
c.270C>G
n.589C>G
c.209C>G (p.Pro70Arg)
n.604C>G
 ClinVar
7g.143321433C>TCA369683728CLCN1c.502C>T (p.Pro168Ser)
c.270C>T
n.589C>T
c.209C>T (p.Pro70Leu)
n.604C>T
7g.143321434C>ACA369683734CLCN1c.503C>A (p.Pro168Gln)
c.271C>A
n.590C>A
c.210C>A (p.Pro70=)
n.605C>A
7g.143321434C>GCA369683737CLCN1c.503C>G (p.Pro168Arg)
c.271C>G
n.590C>G
c.210C>G (p.Pro70=)
n.605C>G
7g.143321434C>TCA369683741CLCN1c.503C>T (p.Pro168Leu)
c.271C>T
n.590C>T
c.210C>T (p.Pro70=)
n.605C>T
7g.143321435A>CCA458542028CLCN1c.504A>C (p.Pro168=)
c.272A>C
n.591A>C
c.211A>C (p.Thr71Pro)
n.606A>C
7g.143321435A>GCA458542026CLCN1c.504A>G (p.Pro168=)
c.272A>G
n.591A>G
c.211A>G (p.Thr71Ala)
n.606A>G
 ClinVar
7g.143321435A>TCA458542025CLCN1c.504A>T (p.Pro168=)
c.272A>T
n.591A>T
c.211A>T (p.Thr71Ser)
n.606A>T
7g.143321436C>ACA369683744CLCN1c.505C>A (p.Leu169Ile)
c.273C>A
n.592C>A
c.212C>A (p.Thr71Asn)
n.607C>A
7g.143321436C=CA1748888179CLCN1c.505C= (p.Leu169=)
c.273C=
n.592C=
c.212C= (p.Thr71=)
n.607C=
7g.143321436C>GCA369683746CLCN1c.505C>G (p.Leu169Val)
c.273C>G
n.592C>G
c.212C>G (p.Thr71Ser)
n.607C>G
7g.143321436C>TCA458542029CLCN1c.505C>T (p.Leu169=)
c.273C>T
n.592C>T
c.212C>T (p.Thr71Ile)
n.607C>T
 ClinVar dbSNP gnomAD v2
7g.143321437T>ACA369683748CLCN1c.506T>A (p.Leu169Gln)
c.274T>A
n.593T>A
c.213T>A (p.Thr71=)
n.608T>A
7g.143321437T>CCA369683749CLCN1c.506T>C (p.Leu169Pro)
c.274T>C
n.593T>C
c.213T>C (p.Thr71=)
n.608T>C
 gnomAD v4
7g.143321437T>GCA369683753CLCN1c.506T>G (p.Leu169Arg)
c.274T>G
n.593T>G
c.213T>G (p.Thr71=)
n.608T>G
7g.143321438A>CCA458542030CLCN1c.507A>C (p.Leu169=)
c.275A>C
n.594A>C
c.214A>C (p.Ser72Arg)
n.609A>C
7g.143321438A>GCA458542031CLCN1c.507A>G (p.Leu169=)
c.275A>G
n.594A>G
c.214A>G (p.Ser72Gly)
n.609A>G
7g.143321438A>TCA458542032CLCN1c.507A>T (p.Leu169=)
c.275A>T
n.594A>T
c.214A>T (p.Ser72Cys)
n.609A>T
7g.143321439G>ACA369683756CLCN1c.508G>A (p.Val170Ile)
c.276G>A
n.595G>A
c.215G>A (p.Ser72Asn)
n.610G>A
7g.143321439G>CCA369683758CLCN1c.508G>C (p.Val170Leu)
c.276G>C
n.595G>C
c.215G>C (p.Ser72Thr)
n.610G>C
7g.143321439G>TCA369683768CLCN1c.508G>T (p.Val170Phe)
c.276G>T
n.595G>T
c.215G>T (p.Ser72Ile)
n.610G>T
7g.143321440T>ACA369683772CLCN1c.509T>A (p.Val170Asp)
c.277T>A
n.596T>A
c.216T>A (p.Ser72Arg)
n.611T>A
7g.143321440T>CCA369683774CLCN1c.509T>C (p.Val170Ala)
c.277T>C
n.596T>C
c.216T>C (p.Ser72=)
n.611T>C
7g.143321440T>GCA369683777CLCN1c.509T>G (p.Val170Gly)
c.277T>G
n.596T>G
c.216T>G (p.Ser72Arg)
n.611T>G
7g.143321441C>ACA458542035CLCN1c.510C>A (p.Val170=)
c.278C>A
n.597C>A
c.217C>A (p.Pro73Thr)
n.612C>A
7g.143321441C=CA1748888186CLCN1c.510C= (p.Val170=)
c.278C=
n.597C=
c.217C= (p.Pro73=)
n.612C=
7g.143321441C>GCA458542036CLCN1c.510C>G (p.Val170=)
c.278C>G
n.597C>G
c.217C>G (p.Pro73Ala)
n.612C>G
7g.143321441C>TCA458542034CLCN1c.510C>T (p.Val170=)
c.278C>T
n.597C>T
c.217C>T (p.Pro73Ser)
n.612C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143321442C>ACA369683787CLCN1c.511C>A (p.Leu171Ile)
c.279C>A
n.598C>A
c.218C>A (p.Pro73His)
n.613C>A
7g.143321442C=CA1748888189CLCN1c.511C= (p.Leu171=)
c.279C=
n.598C=
c.218C= (p.Pro73=)
n.613C=
7g.143321442C>GCA369683784CLCN1c.511C>G (p.Leu171Val)
c.279C>G
n.598C>G
c.218C>G (p.Pro73Arg)
n.613C>G
7g.143321442C>TCA369683781CLCN1c.511C>T (p.Leu171Phe)
c.279C>T
n.598C>T
c.218C>T (p.Pro73Leu)
n.613C>T
 dbSNP gnomAD v4
7g.143321443T>ACA369683789CLCN1c.512T>A (p.Leu171His)
c.280T>A
n.599T>A
c.219T>A (p.Pro73=)
n.614T>A
7g.143321443T>CCA369683791CLCN1c.512T>C (p.Leu171Pro)
c.280T>C
n.599T>C
c.219T>C (p.Pro73=)
n.614T>C
7g.143321443T>GCA369683792CLCN1c.512T>G (p.Leu171Arg)
c.280T>G
n.599T>G
c.219T>G (p.Pro73=)
n.614T>G
7g.143321444C>ACA458542037CLCN1c.513C>A (p.Leu171=)
c.281C>A
n.600C>A
c.220C>A (p.His74Asn)
n.615C>A
7g.143321444C=CA1748888192CLCN1c.513C= (p.Leu171=)
c.281C=
n.600C=
c.220C= (p.His74=)
n.615C=
7g.143321444C>GCA458542038CLCN1c.513C>G (p.Leu171=)
c.281C>G
n.600C>G
c.220C>G (p.His74Asp)
n.615C>G
7g.143321444C>TCA4536970CLCN1c.513C>T (p.Leu171=)
c.281C>T
n.600C>T
c.220C>T (p.His74Tyr)
n.615C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321445A=CA1748888195CLCN1c.514A= (p.Ile172=)
c.282A=
n.601A=
c.221A= (p.His74=)
n.616A=
7g.143321445A>CCA369683798CLCN1c.514A>C (p.Ile172Leu)
c.282A>C
n.601A>C
c.221A>C (p.His74Pro)
n.616A>C
7g.143321445A>GCA168255753CLCN1c.514A>G (p.Ile172Val)
c.282A>G
n.601A>G
c.221A>G (p.His74Arg)
n.616A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143321445A>TCA369683801CLCN1c.514A>T (p.Ile172Phe)
c.282A>T
n.601A>T
c.221A>T (p.His74Leu)
n.616A>T
 ClinVar dbSNP
7g.143321446T>ACA369683803CLCN1c.515T>A (p.Ile172Asn)
c.283T>A
n.602T>A
c.222T>A (p.His74Gln)
n.617T>A
7g.143321446T>CCA369683805CLCN1c.515T>C (p.Ile172Thr)
c.283T>C
n.602T>C
c.222T>C (p.His74=)
n.617T>C
7g.143321446T>GCA369683806CLCN1c.515T>G (p.Ile172Ser)
c.283T>G
n.602T>G
c.222T>G (p.His74Gln)
n.617T>G
7g.143321447C>ACA458542039CLCN1c.516C>A (p.Ile172=)
c.284C>A
n.603C>A
c.223C>A (p.Pro75Thr)
n.618C>A
7g.143321447C=CA1748888203CLCN1c.516C= (p.Ile172=)
c.284C=
n.603C=
c.223C= (p.Pro75=)
n.618C=
7g.143321447C>GCA369683810CLCN1c.516C>G (p.Ile172Met)
c.284C>G
n.603C>G
c.223C>G (p.Pro75Ala)
n.618C>G
 dbSNP
7g.143321447C>TCA458542040CLCN1c.516C>T (p.Ile172=)
c.284C>T
n.603C>T
c.223C>T (p.Pro75Ser)
n.618C>T
7g.143321448C>ACA369683814CLCN1c.517C>A (p.Leu173Ile)
c.285C>A
n.604C>A
c.224C>A (p.Pro75His)
n.619C>A
7g.143321448C=CA1748888208CLCN1c.517C= (p.Leu173=)
c.285C=
n.604C=
c.224C= (p.Pro75=)
n.619C=
7g.143321448C>GCA369683817CLCN1c.517C>G (p.Leu173Val)
c.285C>G
n.604C>G
c.224C>G (p.Pro75Arg)
n.619C>G
7g.143321448C>TCA4536971CLCN1c.517C>T (p.Leu173Phe)
c.285C>T
n.604C>T
c.224C>T (p.Pro75Leu)
n.619C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321448_143321449delinsCTCA1748888207CLCN1c.517_518delinsCT (p.Leu173=)
c.285_286delinsCT
n.604_605delinsCT
c.224_225delinsCT (p.Pro75=)
n.619_620delinsCT
7g.143321449delCA4536972CLCN1c.518del (p.Leu173ProfsTer22)
c.286del
n.605del
c.225del (p.Leu76PhefsTer?)
n.620del
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321449T>ACA369683828CLCN1c.518T>A (p.Leu173His)
c.286T>A
n.605T>A
c.225T>A (p.Pro75=)
n.620T>A
 ClinVar dbSNP
7g.143321449T>CCA369683831CLCN1c.518T>C (p.Leu173Pro)
c.286T>C
n.605T>C
c.225T>C (p.Pro75=)
n.620T>C
7g.143321449T>GCA369683832CLCN1c.518T>G (p.Leu173Arg)
c.286T>G
n.605T>G
c.225T>G (p.Pro75=)
n.620T>G
7g.143321449T=CA1748888213CLCN1c.518T= (p.Leu173=)
c.286T=
n.605T=
c.225T= (p.Pro75=)
n.620T=
7g.143321450C>ACA458542043CLCN1c.519C>A (p.Leu173=)
c.287C>A
n.606C>A
c.226C>A (p.Leu76Ile)
n.621C>A
7g.143321450C>GCA458542041CLCN1c.519C>G (p.Leu173=)
c.287C>G
n.606C>G
c.226C>G (p.Leu76Val)
n.621C>G
7g.143321450C>TCA458542042CLCN1c.519C>T (p.Leu173=)
c.287C>T
n.606C>T
c.226C>T (p.Leu76Phe)
n.621C>T
 ClinVar gnomAD v4
7g.143321451T>ACA369683835CLCN1c.520T>A (p.Phe174Ile)
c.288T>A
n.607T>A
c.227T>A (p.Leu76His)
n.622T>A
7g.143321451T>CCA369683839CLCN1c.520T>C (p.Phe174Leu)
c.288T>C
n.607T>C
c.227T>C (p.Leu76Pro)
n.622T>C
 COSMIC
7g.143321451T>GCA369683841CLCN1c.520T>G (p.Phe174Val)
c.288T>G
n.607T>G
c.227T>G (p.Leu76Arg)
n.622T>G
7g.143321452T>ACA369683844CLCN1c.521T>A (p.Phe174Tyr)
c.289T>A
n.608T>A
c.228T>A (p.Leu76=)
n.623T>A
7g.143321452T>CCA369683845CLCN1c.521T>C (p.Phe174Ser)
c.289T>C
n.608T>C
c.228T>C (p.Leu76=)
n.623T>C
7g.143321452T>GCA369683846CLCN1c.521T>G (p.Phe174Cys)
c.289T>G
n.608T>G
c.228T>G (p.Leu76=)
n.623T>G
7g.143321453C>ACA369683847CLCN1c.522C>A (p.Phe174Leu)
c.290C>A
n.609C>A
c.229C>A (p.Gln77Lys)
n.624C>A
7g.143321453C>GCA369683848CLCN1c.522C>G (p.Phe174Leu)
c.290C>G
n.609C>G
c.229C>G (p.Gln77Glu)
n.624C>G
7g.143321453C>TCA458542044CLCN1c.522C>T (p.Phe174=)
c.290C>T
n.609C>T
c.229C>T (p.Gln77Ter)
n.624C>T
 gnomAD v4
7g.143321454A=CA1748888216CLCN1c.523A= (p.Ser175=)
c.291A=
n.610A=
c.230A= (p.Gln77=)
n.625A=
7g.143321454A>CCA369683851CLCN1c.523A>C (p.Ser175Arg)
c.291A>C
n.610A>C
c.230A>C (p.Gln77Pro)
n.625A>C
7g.143321454A>GCA4536973CLCN1c.523A>G (p.Ser175Gly)
c.291A>G
n.610A>G
c.230A>G (p.Gln77Arg)
n.625A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321454A>TCA369683857CLCN1c.523A>T (p.Ser175Cys)
c.291A>T
n.610A>T
c.230A>T (p.Gln77Leu)
n.625A>T
7g.143321455G>ACA369683870CLCN1c.524G>A (p.Ser175Asn)
c.292G>A
n.611G>A
c.231G>A (p.Gln77=)
n.626G>A
 gnomAD v4
7g.143321455G>CCA369683865CLCN1c.524G>C (p.Ser175Thr)
c.292G>C
n.611G>C
c.231G>C (p.Gln77His)
n.626G>C
 dbSNP
7g.143321455G=CA1748888221CLCN1c.524G= (p.Ser175=)
c.292G=
n.611G=
c.231G= (p.Gln77=)
n.626G=
7g.143321455G>TCA369683861CLCN1c.524G>T (p.Ser175Ile)
c.292G>T
n.611G>T
c.231G>T (p.Gln77His)
n.626G>T
7g.143321456C>ACA369683873CLCN1c.525C>A (p.Ser175Arg)
c.293C>A
n.612C>A
c.232C>A (p.Arg78Ser)
n.627C>A
7g.143321456C=CA1748888226CLCN1c.525C= (p.Ser175=)
c.293C=
n.612C=
c.232C= (p.Arg78=)
n.627C=
7g.143321456C>GCA369683875CLCN1c.525C>G (p.Ser175Arg)
c.293C>G
n.612C>G
c.232C>G (p.Arg78Gly)
n.627C>G
7g.143321456C>TCA4536974CLCN1c.525C>T (p.Ser175=)
c.293C>T
n.612C>T
c.232C>T (p.Arg78Cys)
n.627C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321457G>ACA4536975CLCN1c.526G>A (p.Ala176Thr)
c.294G>A
n.613G>A
c.233G>A (p.Arg78His)
n.628G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143321457G>CCA369683881CLCN1c.526G>C (p.Ala176Pro)
c.294G>C
n.613G>C
c.233G>C (p.Arg78Pro)
n.628G>C
7g.143321457G=CA1748888235CLCN1c.526G= (p.Ala176=)
c.294G=
n.613G=
c.233G= (p.Arg78=)
n.628G=
7g.143321457G>TCA369683883CLCN1c.526G>T (p.Ala176Ser)
c.294G>T
n.613G>T
c.233G>T (p.Arg78Leu)
n.628G>T
 dbSNP gnomAD v3 gnomAD v4
7g.143321457_143321458delinsGCCA1748888233CLCN1c.526_527delinsGC (p.Ala176=)
c.294_295delinsGC
n.613_614delinsGC
c.233_234delinsGC (p.Arg78=)
n.628_629delinsGC
7g.143321458C>ACA4536976CLCN1c.527C>A (p.Ala176Asp)
c.295C>A
n.614C>A
c.234C>A (p.Arg78=)
n.629C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321458C=CA1748888241CLCN1c.527C= (p.Ala176=)
c.295C=
n.614C=
c.234C= (p.Arg78=)
n.629C=
7g.143321458C>GCA369683888CLCN1c.527C>G (p.Ala176Gly)
c.295C>G
n.614C>G
c.234C>G (p.Arg78=)
n.629C>G
7g.143321458C>TCA369683889CLCN1c.527C>T (p.Ala176Val)
c.295C>T
n.614C>T
c.234C>T (p.Arg78=)
n.629C>T
7g.143321460delCA1748888240CLCN1c.529del (p.Leu177SerfsTer18)
c.297del
n.616del
c.236del (p.Pro79LeufsTer?)
n.631del
 dbSNP
7g.143321459C>ACA458542045CLCN1c.528C>A (p.Ala176=)
c.296C>A
n.615C>A
c.235C>A (p.Pro79Thr)
n.630C>A
7g.143321459C>GCA458542046CLCN1c.528C>G (p.Ala176=)
c.296C>G
n.615C>G
c.235C>G (p.Pro79Ala)
n.630C>G
7g.143321459C>TCA458542047CLCN1c.528C>T (p.Ala176=)
c.296C>T
n.615C>T
c.235C>T (p.Pro79Ser)
n.630C>T
 gnomAD v4
7g.143321460C>ACA369683890CLCN1c.529C>A (p.Leu177Ile)
c.297C>A
n.616C>A
c.236C>A (p.Pro79His)
n.631C>A
 COSMIC
7g.143321460C=CA1748888251CLCN1c.529C= (p.Leu177=)
c.297C=
n.616C=
c.236C= (p.Pro79=)
n.631C=
7g.143321460C>GCA4536977CLCN1c.529C>G (p.Leu177Val)
c.297C>G
n.616C>G
c.236C>G (p.Pro79Arg)
n.631C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321460C>TCA168255803CLCN1c.529C>T (p.Leu177Phe)
c.297C>T
n.616C>T
c.236C>T (p.Pro79Leu)
n.631C>T
 dbSNP gnomAD v4
7g.143321461T>ACA369683893CLCN1c.530T>A (p.Leu177His)
c.298T>A
n.617T>A
c.237T>A (p.Pro79=)
n.632T>A
 dbSNP
7g.143321461T>CCA369683898CLCN1c.530T>C (p.Leu177Pro)
c.298T>C
n.617T>C
c.237T>C (p.Pro79=)
n.632T>C
 gnomAD v4
7g.143321461T>GCA369683895CLCN1c.530T>G (p.Leu177Arg)
c.298T>G
n.617T>G
c.237T>G (p.Pro79=)
n.632T>G
7g.143321461T=CA1748888259CLCN1c.530T= (p.Leu177=)
c.298T=
n.617T=
c.237T= (p.Pro79=)
n.632T=
7g.143321462C>ACA458542048CLCN1c.531C>A (p.Leu177=)
c.299C>A
n.618C>A
c.238C>A (p.Leu80Ile)
n.633C>A
7g.143321462C=CA1748888261CLCN1c.531C= (p.Leu177=)
c.299C=
n.618C=
c.238C= (p.Leu80=)
n.633C=
7g.143321462C>GCA458542049CLCN1c.531C>G (p.Leu177=)
c.299C>G
n.618C>G
c.238C>G (p.Leu80Val)
n.633C>G
7g.143321462C>TCA4536978CLCN1c.531C>T (p.Leu177=)
c.299C>T
n.618C>T
c.238C>T (p.Leu80Phe)
n.633C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321463T>ACA369683902CLCN1c.532T>A (p.Phe178Ile)
c.300T>A
n.619T>A
c.239T>A (p.Leu80His)
n.634T>A
7g.143321463T>CCA369683905CLCN1c.532T>C (p.Phe178Leu)
c.300T>C
n.619T>C
c.239T>C (p.Leu80Pro)
n.634T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143321463T>GCA369683917CLCN1c.532T>G (p.Phe178Val)
c.300T>G
n.619T>G
c.239T>G (p.Leu80Arg)
n.634T>G
7g.143321463T=CA1748888267CLCN1c.532T= (p.Phe178=)
c.300T=
n.619T=
c.239T= (p.Leu80=)
n.634T=
7g.143321464T>ACA369683925CLCN1c.533T>A (p.Phe178Tyr)
c.301T>A
n.620T>A
c.240T>A (p.Leu80=)
n.635T>A
7g.143321464T>CCA369683928CLCN1c.533T>C (p.Phe178Ser)
c.301T>C
n.620T>C
c.240T>C (p.Leu80=)
n.635T>C
7g.143321464T>GCA369683931CLCN1c.533T>G (p.Phe178Cys)
c.301T>G
n.620T>G
c.240T>G (p.Leu80=)
n.635T>G
7g.143321465C>ACA369683934CLCN1c.534C>A (p.Phe178Leu)
c.302C>A
n.621C>A
c.241C>A (p.Leu81Met)
n.636C>A
7g.143321465C>GCA369683937CLCN1c.534C>G (p.Phe178Leu)
c.302C>G
n.621C>G
c.241C>G (p.Leu81Val)
n.636C>G
7g.143321465C>TCA458542050CLCN1c.534C>T (p.Phe178=)
c.302C>T
n.621C>T
c.241C>T (p.Leu81=)
n.636C>T
 gnomAD v4
7g.143321466T>ACA369683938CLCN1c.535T>A (p.Cys179Ser)
c.303T>A
n.622T>A
c.242T>A (p.Leu81Gln)
n.637T>A
7g.143321466T>CCA369683939CLCN1c.535T>C (p.Cys179Arg)
c.303T>C
n.622T>C
c.242T>C (p.Leu81Pro)
n.637T>C
 gnomAD v4
7g.143321466T>GCA369683942CLCN1c.535T>G (p.Cys179Gly)
c.303T>G
n.622T>G
c.242T>G (p.Leu81Arg)
n.637T>G
7g.143321467G>ACA369683946CLCN1c.536G>A (p.Cys179Tyr)
c.304G>A
n.623G>A
c.243G>A (p.Leu81=)
n.638G>A
7g.143321467G>CCA369683948CLCN1c.536G>C (p.Cys179Ser)
c.304G>C
n.623G>C
c.243G>C (p.Leu81=)
n.638G>C
7g.143321467G>TCA369683951CLCN1c.536G>T (p.Cys179Phe)
c.304G>T
n.623G>T
c.243G>T (p.Leu81=)
n.638G>T
7g.143321468C>ACA369683956CLCN1c.537C>A (p.Cys179Ter)
c.305C>A
n.624C>A
c.244C>A (p.Pro82Thr)
n.639C>A
7g.143321468C>GCA369683953CLCN1c.537C>G (p.Cys179Trp)
c.305C>G
n.624C>G
c.244C>G (p.Pro82Ala)
n.639C>G
7g.143321468C>TCA458542054CLCN1c.537C>T (p.Cys179=)
c.305C>T
n.624C>T
c.244C>T (p.Pro82Ser)
n.639C>T
7g.143321469C>ACA369683959CLCN1c.538C>A (p.His180Asn)
c.306C>A
n.625C>A
c.245C>A (p.Pro82Gln)
n.640C>A
7g.143321469C>GCA369683961CLCN1c.538C>G (p.His180Asp)
c.306C>G
n.625C>G
c.245C>G (p.Pro82Arg)
n.640C>G
7g.143321469C>TCA369683963CLCN1c.538C>T (p.His180Tyr)
c.306C>T
n.625C>T
c.245C>T (p.Pro82Leu)
n.640C>T
7g.143321470A>CCA369683966CLCN1c.539A>C (p.His180Pro)
c.307A>C
n.626A>C
c.246A>C (p.Pro82=)
n.641A>C
7g.143321470A>GCA369683969CLCN1c.539A>G (p.His180Arg)
c.307A>G
n.626A>G
c.246A>G (p.Pro82=)
n.641A>G
 gnomAD v4
7g.143321470A>TCA369683971CLCN1c.539A>T (p.His180Leu)
c.307A>T
n.626A>T
c.246A>T (p.Pro82=)
n.641A>T
7g.143321471C>ACA369683976CLCN1c.540C>A (p.His180Gln)
c.308C>A
n.627C>A
c.247C>A (p.Pro83Thr)
n.642C>A
7g.143321471C>GCA369683973CLCN1c.540C>G (p.His180Gln)
c.308C>G
n.627C>G
c.247C>G (p.Pro83Ala)
n.642C>G
7g.143321471C>TCA458542056CLCN1c.540C>T (p.His180=)
c.308C>T
n.627C>T
c.247C>T (p.Pro83Ser)
n.642C>T
 COSMIC
7g.143321472C>ACA369683979CLCN1c.541C>A (p.Leu181Ile)
c.309C>A
n.628C>A
c.248C>A (p.Pro83His)
n.643C>A
 dbSNP
7g.143321472C=CA1748881294CLCN1c.541C= (p.Leu181=)
c.309C=
n.628C=
c.248C= (p.Pro83=)
n.643C=
7g.143321472C>GCA369683982CLCN1c.541C>G (p.Leu181Val)
c.309C>G
n.628C>G
c.248C>G (p.Pro83Arg)
n.643C>G
7g.143321472C>TCA369683986CLCN1c.541C>T (p.Leu181Phe)
c.309C>T
n.628C>T
c.248C>T (p.Pro83Leu)
n.643C>T
7g.143321473T>ACA369683988CLCN1c.542T>A (p.Leu181His)
c.310T>A
n.629T>A
c.249T>A (p.Pro83=)
n.644T>A
7g.143321473T>CCA369683990CLCN1c.542T>C (p.Leu181Pro)
c.310T>C
n.629T>C
c.249T>C (p.Pro83=)
n.644T>C
 ClinVar dbSNP
7g.143321473T>GCA369683992CLCN1c.542T>G (p.Leu181Arg)
c.310T>G
n.629T>G
c.249T>G (p.Pro83=)
n.644T>G
7g.143321474C>ACA458542059CLCN1c.543C>A (p.Leu181=)
c.311C>A
c.1C>A
n.1C>A
n.630C>A
c.250C>A (p.His84Asn)
n.645C>A
7g.143321474C>GCA458542060CLCN1c.543C>G (p.Leu181=)
c.311C>G
c.1C>G
n.1C>G
n.630C>G
c.250C>G (p.His84Asp)
n.645C>G
7g.143321474C>TCA458542061CLCN1c.543C>T (p.Leu181=)
c.311C>T
c.1C>T
n.1C>T
n.630C>T
c.250C>T (p.His84Tyr)
n.645C>T
 gnomAD v4
7g.143321475A=CA1748881310CLCN1c.544A= (p.Ile182=)
c.312A=
c.2A=
n.2A=
n.631A=
c.251A= (p.His84=)
n.646A=
7g.143321475A>CCA369683995CLCN1c.544A>C (p.Ile182Leu)
c.312A>C
c.2A>C
n.2A>C
n.631A>C
c.251A>C (p.His84Pro)
n.646A>C
 gnomAD v4
7g.143321475A>GCA16618362CLCN1c.544A>G (p.Ile182Val)
c.312A>G
c.2A>G
n.2A>G
n.631A>G
c.251A>G (p.His84Arg)
n.646A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143321475A>TCA369683998CLCN1c.544A>T (p.Ile182Phe)
c.312A>T
c.2A>T
n.2A>T
n.631A>T
c.251A>T (p.His84Leu)
n.646A>T
7g.143321476T>ACA369684004CLCN1c.545T>A (p.Ile182Asn)
c.313T>A
c.3T>A
n.3T>A
n.632T>A
c.252T>A (p.His84Gln)
n.647T>A
 gnomAD v4
7g.143321476T>CCA369684007CLCN1c.545T>C (p.Ile182Thr)
c.313T>C
c.3T>C
n.3T>C
n.632T>C
c.252T>C (p.His84=)
n.647T>C
 dbSNP gnomAD v3 gnomAD v4
7g.143321476T>GCA369684010CLCN1c.545T>G (p.Ile182Ser)
c.313T>G
c.3T>G
n.3T>G
n.632T>G
c.252T>G (p.His84Gln)
n.647T>G
7g.143321476T=CA1748881313CLCN1c.545T= (p.Ile182=)
c.313T=
c.3T=
n.3T=
n.632T=
c.252T= (p.His84=)
n.647T=
7g.143321477C>ACA458542062CLCN1c.546C>A (p.Ile182=)
c.314C>A
c.4C>A
n.4C>A
n.633C>A
c.253C>A (p.Leu85Ile)
n.648C>A
7g.143321477C=CA1748881318CLCN1c.546C= (p.Ile182=)
c.314C=
c.4C=
n.4C=
n.633C=
c.253C= (p.Leu85=)
n.648C=
7g.143321477C>GCA168255814CLCN1c.546C>G (p.Ile182Met)
c.314C>G
c.4C>G
n.4C>G
n.633C>G
c.253C>G (p.Leu85Val)
n.648C>G
 ClinVar dbSNP gnomAD v4
7g.143321477C>TCA168255835CLCN1c.546C>T (p.Ile182=)
c.314C>T
c.4C>T
n.4C>T
n.633C>T
c.253C>T (p.Leu85Phe)
n.648C>T
 dbSNP gnomAD v4
7g.143321478T>ACA369684017CLCN1c.547T>A (p.Ser183Thr)
c.315T>A
c.1T>A (p.Ser1Thr)
c.5T>A
n.5T>A
n.634T>A
c.254T>A (p.Leu85His)
n.649T>A
7g.143321478T>CCA369684018CLCN1c.547T>C (p.Ser183Pro)
c.315T>C
c.1T>C (p.Ser1Pro)
c.5T>C
n.5T>C
n.634T>C
c.254T>C (p.Leu85Pro)
n.649T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143321478T>GCA369684022CLCN1c.547T>G (p.Ser183Ala)
c.315T>G
c.1T>G (p.Ser1Ala)
c.5T>G
n.5T>G
n.634T>G
c.254T>G (p.Leu85Arg)
n.649T>G
 gnomAD v4
7g.143321478T=CA1748881327CLCN1c.547T= (p.Ser183=)
c.315T=
c.1T= (p.Ser1=)
c.5T=
n.5T=
n.634T=
c.254T= (p.Leu85=)
n.649T=
7g.143321479C>ACA369684025CLCN1c.548C>A (p.Ser183Tyr)
c.316C>A
c.2C>A (p.Ser1Tyr)
c.6C>A
n.6C>A
n.635C>A
c.255C>A (p.Leu85=)
n.650C>A
7g.143321479C=CA1748881333CLCN1c.548C= (p.Ser183=)
c.316C=
c.2C= (p.Ser1=)
c.6C=
n.6C=
n.635C=
c.255C= (p.Leu85=)
n.650C=
7g.143321479C>GCA369684026CLCN1c.548C>G (p.Ser183Cys)
c.316C>G
c.2C>G (p.Ser1Cys)
c.6C>G
n.6C>G
n.635C>G
c.255C>G (p.Leu85=)
n.650C>G
 gnomAD v4
7g.143321479C>TCA369684029CLCN1c.548C>T (p.Ser183Phe)
c.316C>T
c.2C>T (p.Ser1Phe)
c.6C>T
n.6C>T
n.635C>T
c.255C>T (p.Leu85=)
n.650C>T
 dbSNP gnomAD v3 gnomAD v4
7g.143321480T>ACA458542066CLCN1c.549T>A (p.Ser183=)
c.317T>A
c.3T>A (p.Ser1=)
c.7T>A
n.7T>A
n.636T>A
c.256T>A (p.Ser86Thr)
n.651T>A
 dbSNP
7g.143321480T>CCA458542067CLCN1c.549T>C (p.Ser183=)
c.317T>C
c.3T>C (p.Ser1=)
c.7T>C
n.7T>C
n.636T>C
c.256T>C (p.Ser86Pro)
n.651T>C
7g.143321480T>GCA458542068CLCN1c.549T>G (p.Ser183=)
c.317T>G
c.3T>G (p.Ser1=)
c.7T>G
n.7T>G
n.636T>G
c.256T>G (p.Ser86Ala)
n.651T>G
 ClinVar
7g.143321480T=CA1748881338CLCN1c.549T= (p.Ser183=)
c.317T=
c.3T= (p.Ser1=)
c.7T=
n.7T=
n.636T=
c.256T= (p.Ser86=)
n.651T=
7g.143321481C>ACA369684033CLCN1c.550C>A (p.Pro184Thr)
c.318C>A
c.4C>A (p.Pro2Thr)
c.8C>A
n.8C>A
n.637C>A
c.257C>A (p.Ser86Tyr)
n.652C>A
 dbSNP
7g.143321481C=CA1748881341CLCN1c.550C= (p.Pro184=)
c.318C=
c.4C= (p.Pro2=)
c.8C=
n.8C=
n.637C=
c.257C= (p.Ser86=)
n.652C=
7g.143321481C>GCA369684035CLCN1c.550C>G (p.Pro184Ala)
c.318C>G
c.4C>G (p.Pro2Ala)
c.8C>G
n.8C>G
n.637C>G
c.257C>G (p.Ser86Cys)
n.652C>G
7g.143321481C>TCA369684038CLCN1c.550C>T (p.Pro184Ser)
c.318C>T
c.4C>T (p.Pro2Ser)
c.8C>T
n.8C>T
n.637C>T
c.257C>T (p.Ser86Phe)
n.652C>T
 gnomAD v4
7g.143321484delCA2685382944CLCN1c.553del (p.Gln185ArgfsTer10)
c.321del
c.7del (p.Gln3ArgfsTer10)
c.11del
n.11del
n.640del
c.260del (p.Pro87GlnfsTer?)
n.655del
 gnomAD v4
7g.143321482C>ACA369684046CLCN1c.551C>A (p.Pro184His)
c.319C>A
c.5C>A (p.Pro2His)
c.9C>A
n.9C>A
n.638C>A
c.258C>A (p.Ser86=)
n.653C>A
7g.143321482C=CA1748881344CLCN1c.551C= (p.Pro184=)
c.319C=
c.5C= (p.Pro2=)
c.9C=
n.9C=
n.638C=
c.258C= (p.Ser86=)
n.653C=
7g.143321482C>GCA369684041CLCN1c.551C>G (p.Pro184Arg)
c.319C>G
c.5C>G (p.Pro2Arg)
c.9C>G
n.9C>G
n.638C>G
c.258C>G (p.Ser86=)
n.653C>G
7g.143321482C>TCA369684044CLCN1c.551C>T (p.Pro184Leu)
c.319C>T
c.5C>T (p.Pro2Leu)
c.9C>T
n.9C>T
n.638C>T
c.258C>T (p.Ser86=)
n.653C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143321483C>ACA458542070CLCN1c.552C>A (p.Pro184=)
c.320C>A
c.6C>A (p.Pro2=)
c.10C>A
n.10C>A
n.639C>A
c.259C>A (p.Pro87Thr)
n.654C>A
7g.143321483C>GCA458542071CLCN1c.552C>G (p.Pro184=)
c.320C>G
c.6C>G (p.Pro2=)
c.10C>G
n.10C>G
n.639C>G
c.259C>G (p.Pro87Ala)
n.654C>G
7g.143321483C>TCA458542072CLCN1c.552C>T (p.Pro184=)
c.320C>T
c.6C>T (p.Pro2=)
c.10C>T
n.10C>T
n.639C>T
c.259C>T (p.Pro87Ser)
n.654C>T
 COSMIC

Number of alleles fetched