Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.50072460T>CCA641789216CLCN5c.316-29T>C (n.316-29T>C)
c.106-29T>C (n.106-29T>C)
c.603-29T>C
c.166-29T>C (n.166-29T>C)
c.328-29T>C (n.328-29T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072460T=CA2428764155CLCN5c.316-29T= (n.316-29T=)
c.106-29T= (n.106-29T=)
c.603-29T=
c.166-29T= (n.166-29T=)
c.328-29T= (n.328-29T=)
Xg.50072461G>ACA2693736161CLCN5c.316-28G>A (n.316-28G>A)
c.106-28G>A (n.106-28G>A)
c.603-28G>A
c.166-28G>A (n.166-28G>A)
c.328-28G>A (n.328-28G>A)
 gnomAD v4
Xg.50072461G=CA2428764156CLCN5c.316-28G= (n.316-28G=)
c.106-28G= (n.106-28G=)
c.603-28G=
c.166-28G= (n.166-28G=)
c.328-28G= (n.328-28G=)
Xg.50072461G>TCA875996275CLCN5c.316-28G>T (n.316-28G>T)
c.106-28G>T (n.106-28G>T)
c.603-28G>T
c.166-28G>T (n.166-28G>T)
c.328-28G>T (n.328-28G>T)
 dbSNP
Xg.50072464C>ACA2579610585CLCN5c.316-25C>A (n.316-25C>A)
c.106-25C>A (n.106-25C>A)
c.603-25C>A
c.166-25C>A (n.166-25C>A)
c.328-25C>A (n.328-25C>A)
 gnomAD v4
Xg.50072464C=CA2428764157CLCN5c.316-25C= (n.316-25C=)
c.106-25C= (n.106-25C=)
c.603-25C=
c.166-25C= (n.166-25C=)
c.328-25C= (n.328-25C=)
Xg.50072464C>TCA875996277CLCN5c.316-25C>T (n.316-25C>T)
c.106-25C>T (n.106-25C>T)
c.603-25C>T
c.166-25C>T (n.166-25C>T)
c.328-25C>T (n.328-25C>T)
 dbSNP
Xg.50072465C>ACA2693736162CLCN5c.316-24C>A (n.316-24C>A)
c.106-24C>A (n.106-24C>A)
c.603-24C>A
c.166-24C>A (n.166-24C>A)
c.328-24C>A (n.328-24C>A)
 gnomAD v4
Xg.50072465C=CA2428764158CLCN5c.316-24C= (n.316-24C=)
c.106-24C= (n.106-24C=)
c.603-24C=
c.166-24C= (n.166-24C=)
c.328-24C= (n.328-24C=)
Xg.50072465C>TCA641789217CLCN5c.316-24C>T (n.316-24C>T)
c.106-24C>T (n.106-24C>T)
c.603-24C>T
c.166-24C>T (n.166-24C>T)
c.328-24C>T (n.328-24C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.50072466A=CA2428764159CLCN5c.316-23A= (n.316-23A=)
c.106-23A= (n.106-23A=)
c.603-23A=
c.166-23A= (n.166-23A=)
c.328-23A= (n.328-23A=)
Xg.50072466A>GCA641789218CLCN5c.316-23A>G (n.316-23A>G)
c.106-23A>G (n.106-23A>G)
c.603-23A>G
c.166-23A>G (n.166-23A>G)
c.328-23A>G (n.328-23A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072467A=CA2428764160CLCN5c.316-22A= (n.316-22A=)
c.106-22A= (n.106-22A=)
c.603-22A=
c.166-22A= (n.166-22A=)
c.328-22A= (n.328-22A=)
Xg.50072467A>GCA641789219CLCN5c.316-22A>G (n.316-22A>G)
c.106-22A>G (n.106-22A>G)
c.603-22A>G
c.166-22A>G (n.166-22A>G)
c.328-22A>G (n.328-22A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.50072469G>ACA2579610586CLCN5c.316-20G>A (n.316-20G>A)
c.106-20G>A (n.106-20G>A)
c.603-20G>A
c.166-20G>A (n.166-20G>A)
c.328-20G>A (n.328-20G>A)
Xg.50072469G>TCA2544481649CLCN5c.316-20G>T (n.316-20G>T)
c.106-20G>T (n.106-20G>T)
c.603-20G>T
c.166-20G>T (n.166-20G>T)
c.328-20G>T (n.328-20G>T)
Xg.50072470_50072471insAGAGCTACCA2511533331CLCN5c.316-19_316-18insAGAGCTAC (n.316-19_316-18insAGAGCTAC)
c.106-19_106-18insAGAGCTAC (n.106-19_106-18insAGAGCTAC)
c.603-19_603-18insAGAGCTAC
c.166-19_166-18insAGAGCTAC (n.166-19_166-18insAGAGCTAC)
c.328-19_328-18insAGAGCTAC (n.328-19_328-18insAGAGCTAC)
Xg.50072472T>GCA10413712CLCN5c.316-17T>G (n.316-17T>G)
c.106-17T>G (n.106-17T>G)
c.603-17T>G
c.166-17T>G (n.166-17T>G)
c.328-17T>G (n.328-17T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072472T=CA2428764161CLCN5c.316-17T= (n.316-17T=)
c.106-17T= (n.106-17T=)
c.603-17T=
c.166-17T= (n.166-17T=)
c.328-17T= (n.328-17T=)
Xg.50072474C>ACA2693736163CLCN5c.316-15C>A (n.316-15C>A)
c.106-15C>A (n.106-15C>A)
c.603-15C>A
c.166-15C>A (n.166-15C>A)
c.328-15C>A (n.328-15C>A)
 gnomAD v4
Xg.50072474C=CA2428764162CLCN5c.316-15C= (n.316-15C=)
c.106-15C= (n.106-15C=)
c.603-15C=
c.166-15C= (n.166-15C=)
c.328-15C= (n.328-15C=)
Xg.50072474C>GCA10413713CLCN5c.316-15C>G (n.316-15C>G)
c.106-15C>G (n.106-15C>G)
c.603-15C>G
c.166-15C>G (n.166-15C>G)
c.328-15C>G (n.328-15C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50072475T>CCA10413714CLCN5c.316-14T>C (n.316-14T>C)
c.106-14T>C (n.106-14T>C)
c.603-14T>C
c.166-14T>C (n.166-14T>C)
c.328-14T>C (n.328-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50072475T>GCA2693736164CLCN5c.316-14T>G (n.316-14T>G)
c.106-14T>G (n.106-14T>G)
c.603-14T>G
c.166-14T>G (n.166-14T>G)
c.328-14T>G (n.328-14T>G)
 gnomAD v4
Xg.50072475T=CA2428764163CLCN5c.316-14T= (n.316-14T=)
c.106-14T= (n.106-14T=)
c.603-14T=
c.166-14T= (n.166-14T=)
c.328-14T= (n.328-14T=)
Xg.50072476C>ACA2693736165CLCN5c.316-13C>A (n.316-13C>A)
c.106-13C>A (n.106-13C>A)
c.603-13C>A
c.166-13C>A (n.166-13C>A)
c.328-13C>A (n.328-13C>A)
 gnomAD v4
Xg.50072476C>TCA2693736166CLCN5c.316-13C>T (n.316-13C>T)
c.106-13C>T (n.106-13C>T)
c.603-13C>T
c.166-13C>T (n.166-13C>T)
c.328-13C>T (n.328-13C>T)
 gnomAD v4
Xg.50072477A=CA2428764164CLCN5c.316-12A= (n.316-12A=)
c.106-12A= (n.106-12A=)
c.603-12A=
c.166-12A= (n.166-12A=)
c.328-12A= (n.328-12A=)
Xg.50072477A>CCA2428764165CLCN5c.316-12A>C (n.316-12A>C)
c.106-12A>C (n.106-12A>C)
c.603-12A>C
c.166-12A>C (n.166-12A>C)
c.328-12A>C (n.328-12A>C)
 dbSNP
Xg.50072478T>CCA2693736167CLCN5c.316-11T>C (n.316-11T>C)
c.106-11T>C (n.106-11T>C)
c.603-11T>C
c.166-11T>C (n.166-11T>C)
c.328-11T>C (n.328-11T>C)
 gnomAD v4
Xg.50072478T>GCA2695234145CLCN5c.316-11T>G (n.316-11T>G)
c.106-11T>G (n.106-11T>G)
c.603-11T>G
c.166-11T>G (n.166-11T>G)
c.328-11T>G (n.328-11T>G)
Xg.50072481delCA2579610587CLCN5c.316-8del (n.316-8del)
c.106-8del (n.106-8del)
c.603-8del
c.166-8del (n.166-8del)
c.328-8del (n.328-8del)
 gnomAD v4
Xg.50072481T>CCA2564509357CLCN5c.316-8T>C (n.316-8T>C)
c.106-8T>C (n.106-8T>C)
c.603-8T>C
c.166-8T>C (n.166-8T>C)
c.328-8T>C (n.328-8T>C)
Xg.50072482C>ACA2693736169CLCN5c.316-7C>A (n.316-7C>A)
c.106-7C>A (n.106-7C>A)
c.603-7C>A
c.166-7C>A (n.166-7C>A)
c.328-7C>A (n.328-7C>A)
 gnomAD v4
Xg.50072482C>TCA2562303482CLCN5c.316-7C>T (n.316-7C>T)
c.106-7C>T (n.106-7C>T)
c.603-7C>T
c.166-7C>T (n.166-7C>T)
c.328-7C>T (n.328-7C>T)
Xg.50072485delCA2693736168CLCN5c.316-4del (n.316-4del)
c.106-4del (n.106-4del)
c.603-4del
c.166-4del (n.166-4del)
c.328-4del (n.328-4del)
 gnomAD v4
Xg.50072483C>ACA2693736170CLCN5c.316-6C>A (n.316-6C>A)
c.106-6C>A (n.106-6C>A)
c.603-6C>A
c.166-6C>A (n.166-6C>A)
c.328-6C>A (n.328-6C>A)
 gnomAD v4
Xg.50072483C>TCA2579610588CLCN5c.316-6C>T (n.316-6C>T)
c.106-6C>T (n.106-6C>T)
c.603-6C>T
c.166-6C>T (n.166-6C>T)
c.328-6C>T (n.328-6C>T)
Xg.50072485C>ACA2693736171CLCN5c.316-4C>A (n.316-4C>A)
c.106-4C>A (n.106-4C>A)
c.603-4C>A
c.166-4C>A (n.166-4C>A)
c.328-4C>A (n.328-4C>A)
 gnomAD v4
Xg.50072485C>GCA2693736172CLCN5c.316-4C>G (n.316-4C>G)
c.106-4C>G (n.106-4C>G)
c.603-4C>G
c.166-4C>G (n.166-4C>G)
c.328-4C>G (n.328-4C>G)
 gnomAD v4
Xg.50072487A>CCA413182196CLCN5c.316-2A>C (n.316-2A>C)
c.106-2A>C (n.106-2A>C)
c.603-2A>C
c.166-2A>C (n.166-2A>C)
c.328-2A>C (n.328-2A>C)
Xg.50072487A>GCA413182197CLCN5c.316-2A>G (n.316-2A>G)
c.106-2A>G (n.106-2A>G)
c.603-2A>G
c.166-2A>G (n.166-2A>G)
c.328-2A>G (n.328-2A>G)
 gnomAD v4
Xg.50072487A>TCA413182198CLCN5c.316-2A>T (n.316-2A>T)
c.106-2A>T (n.106-2A>T)
c.603-2A>T
c.166-2A>T (n.166-2A>T)
c.328-2A>T (n.328-2A>T)
 gnomAD v4
Xg.50072488G>ACA413182200CLCN5c.316-1G>A (n.316-1G>A)
c.106-1G>A (n.106-1G>A)
c.603-1G>A
c.166-1G>A (n.166-1G>A)
c.328-1G>A (n.328-1G>A)
Xg.50072488G>CCA413182201CLCN5c.316-1G>C (n.316-1G>C)
c.106-1G>C (n.106-1G>C)
c.603-1G>C
c.166-1G>C (n.166-1G>C)
c.328-1G>C (n.328-1G>C)
Xg.50072488G>TCA413182199CLCN5c.316-1G>T (n.316-1G>T)
c.106-1G>T (n.106-1G>T)
c.603-1G>T
c.166-1G>T (n.166-1G>T)
c.328-1G>T (n.328-1G>T)
Xg.50072489A>CCA413182202CLCN5c.316A>C (p.Ile106Leu)
c.106A>C (p.Ile36Leu)
c.603A>C
c.166A>C (p.Ile56Leu)
c.328A>C (p.Ile110Leu)
Xg.50072489A>GCA413182203CLCN5c.316A>G (p.Ile106Val)
c.106A>G (p.Ile36Val)
c.603A>G
c.166A>G (p.Ile56Val)
c.328A>G (p.Ile110Val)
 gnomAD v4
Xg.50072489A>TCA413182204CLCN5c.316A>T (p.Ile106Phe)
c.106A>T (p.Ile36Phe)
c.603A>T
c.166A>T (p.Ile56Phe)
c.328A>T (p.Ile110Phe)
Xg.50072490T>ACA413182205CLCN5c.317T>A (p.Ile106Asn)
c.107T>A (p.Ile36Asn)
c.604T>A
c.167T>A (p.Ile56Asn)
c.329T>A (p.Ile110Asn)
Xg.50072490T>CCA413182206CLCN5c.317T>C (p.Ile106Thr)
c.107T>C (p.Ile36Thr)
c.604T>C
c.167T>C (p.Ile56Thr)
c.329T>C (p.Ile110Thr)
Xg.50072490T>GCA413182207CLCN5c.317T>G (p.Ile106Ser)
c.107T>G (p.Ile36Ser)
c.604T>G
c.167T>G (p.Ile56Ser)
c.329T>G (p.Ile110Ser)
Xg.50072491T>ACA516468064CLCN5c.318T>A (p.Ile106=)
c.108T>A (p.Ile36=)
c.605T>A
c.168T>A (p.Ile56=)
c.330T>A (p.Ile110=)
Xg.50072491T>CCA516468065CLCN5c.318T>C (p.Ile106=)
c.108T>C (p.Ile36=)
c.605T>C
c.168T>C (p.Ile56=)
c.330T>C (p.Ile110=)
Xg.50072491T>GCA413182208CLCN5c.318T>G (p.Ile106Met)
c.108T>G (p.Ile36Met)
c.605T>G
c.168T>G (p.Ile56Met)
c.330T>G (p.Ile110Met)
Xg.50072492A>CCA413182209CLCN5c.319A>C (p.Thr107Pro)
c.109A>C (p.Thr37Pro)
c.606A>C
c.169A>C (p.Thr57Pro)
c.331A>C (p.Thr111Pro)
Xg.50072492A>GCA413182210CLCN5c.319A>G (p.Thr107Ala)
c.109A>G (p.Thr37Ala)
c.606A>G
c.169A>G (p.Thr57Ala)
c.331A>G (p.Thr111Ala)
 gnomAD v4 COSMIC COSMIC
Xg.50072492A>TCA413182211CLCN5c.319A>T (p.Thr107Ser)
c.109A>T (p.Thr37Ser)
c.606A>T
c.169A>T (p.Thr57Ser)
c.331A>T (p.Thr111Ser)
Xg.50072493C>ACA413182212CLCN5c.320C>A (p.Thr107Asn)
c.110C>A (p.Thr37Asn)
c.607C>A
c.170C>A (p.Thr57Asn)
c.332C>A (p.Thr111Asn)
 gnomAD v4
Xg.50072493C>GCA413182213CLCN5c.320C>G (p.Thr107Ser)
c.110C>G (p.Thr37Ser)
c.607C>G
c.170C>G (p.Thr57Ser)
c.332C>G (p.Thr111Ser)
Xg.50072493C>TCA413182214CLCN5c.320C>T (p.Thr107Ile)
c.110C>T (p.Thr37Ile)
c.607C>T
c.170C>T (p.Thr57Ile)
c.332C>T (p.Thr111Ile)
Xg.50072494C>ACA516468075CLCN5c.321C>A (p.Thr107=)
c.111C>A (p.Thr37=)
c.608C>A
c.171C>A (p.Thr57=)
c.333C>A (p.Thr111=)
 gnomAD v4
Xg.50072494C>GCA516468078CLCN5c.321C>G (p.Thr107=)
c.111C>G (p.Thr37=)
c.608C>G
c.171C>G (p.Thr57=)
c.333C>G (p.Thr111=)
Xg.50072494C>TCA516468074CLCN5c.321C>T (p.Thr107=)
c.111C>T (p.Thr37=)
c.608C>T
c.171C>T (p.Thr57=)
c.333C>T (p.Thr111=)
Xg.50072495A>CCA413182217CLCN5c.322A>C (p.Asn108His)
c.112A>C (p.Asn38His)
c.609A>C
c.172A>C (p.Asn58His)
c.334A>C (p.Asn112His)
Xg.50072495A>GCA413182216CLCN5c.322A>G (p.Asn108Asp)
c.112A>G (p.Asn38Asp)
c.609A>G
c.172A>G (p.Asn58Asp)
c.334A>G (p.Asn112Asp)
 gnomAD v4
Xg.50072495A>TCA413182215CLCN5c.322A>T (p.Asn108Tyr)
c.112A>T (p.Asn38Tyr)
c.609A>T
c.172A>T (p.Asn58Tyr)
c.334A>T (p.Asn112Tyr)
Xg.50072496A=CA2428764166CLCN5c.323A= (p.Asn108=)
c.113A= (p.Asn38=)
c.610A=
c.173A= (p.Asn58=)
c.335A= (p.Asn112=)
Xg.50072496A>CCA413182218CLCN5c.323A>C (p.Asn108Thr)
c.113A>C (p.Asn38Thr)
c.610A>C
c.173A>C (p.Asn58Thr)
c.335A>C (p.Asn112Thr)
Xg.50072496A>GCA10413715CLCN5c.323A>G (p.Asn108Ser)
c.113A>G (p.Asn38Ser)
c.610A>G
c.173A>G (p.Asn58Ser)
c.335A>G (p.Asn112Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50072496A>TCA413182219CLCN5c.323A>T (p.Asn108Ile)
c.113A>T (p.Asn38Ile)
c.610A>T
c.173A>T (p.Asn58Ile)
c.335A>T (p.Asn112Ile)
Xg.50072497T>ACA413182220CLCN5c.324T>A (p.Asn108Lys)
c.114T>A (p.Asn38Lys)
c.611T>A
c.174T>A (p.Asn58Lys)
c.336T>A (p.Asn112Lys)
Xg.50072497T>CCA516468089CLCN5c.324T>C (p.Asn108=)
c.114T>C (p.Asn38=)
c.611T>C
c.174T>C (p.Asn58=)
c.336T>C (p.Asn112=)
Xg.50072497T>GCA413182221CLCN5c.324T>G (p.Asn108Lys)
c.114T>G (p.Asn38Lys)
c.611T>G
c.174T>G (p.Asn58Lys)
c.336T>G (p.Asn112Lys)
Xg.50072497_50072498delinsTACA2428764167CLCN5c.324_325delinsTA (p.Asn108=)
c.114_115delinsTA (p.Asn38=)
c.611_612delinsTA
c.174_175delinsTA (p.Asn58=)
c.336_337delinsTA (p.Asn112=)
Xg.50072498A>CCA413182222CLCN5c.325A>C (p.Lys109Gln)
c.115A>C (p.Lys39Gln)
c.612A>C
c.175A>C (p.Lys59Gln)
c.337A>C (p.Lys113Gln)
Xg.50072498A>GCA413182223CLCN5c.325A>G (p.Lys109Glu)
c.115A>G (p.Lys39Glu)
c.612A>G
c.175A>G (p.Lys59Glu)
c.337A>G (p.Lys113Glu)
Xg.50072498A>TCA413182224CLCN5c.325A>T (p.Lys109Ter)
c.115A>T (p.Lys39Ter)
c.612A>T
c.175A>T (p.Lys59Ter)
c.337A>T (p.Lys113Ter)
Xg.50072501delCA1133024376CLCN5c.328del (p.Ser110AlafsTer8)
c.118del (p.Ser40AlafsTer8)
c.615del
c.178del (p.Ser60AlafsTer8)
c.340del (p.Ser114AlafsTer8)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.50072499A=CA2428764168CLCN5c.326A= (p.Lys109=)
c.116A= (p.Lys39=)
c.613A=
c.176A= (p.Lys59=)
c.338A= (p.Lys113=)
Xg.50072499A>CCA413182225CLCN5c.326A>C (p.Lys109Thr)
c.116A>C (p.Lys39Thr)
c.613A>C
c.176A>C (p.Lys59Thr)
c.338A>C (p.Lys113Thr)
 COSMIC COSMIC
Xg.50072499A>GCA329781723CLCN5c.326A>G (p.Lys109Arg)
c.116A>G (p.Lys39Arg)
c.613A>G
c.176A>G (p.Lys59Arg)
c.338A>G (p.Lys113Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072499A>TCA413182226CLCN5c.326A>T (p.Lys109Ile)
c.116A>T (p.Lys39Ile)
c.613A>T
c.176A>T (p.Lys59Ile)
c.338A>T (p.Lys113Ile)
Xg.50072500A>CCA413182227CLCN5c.327A>C (p.Lys109Asn)
c.117A>C (p.Lys39Asn)
c.614A>C
c.177A>C (p.Lys59Asn)
c.339A>C (p.Lys113Asn)
 gnomAD v4
Xg.50072500A>GCA516468099CLCN5c.327A>G (p.Lys109=)
c.117A>G (p.Lys39=)
c.614A>G
c.177A>G (p.Lys59=)
c.339A>G (p.Lys113=)
 gnomAD v4
Xg.50072500A>TCA413182228CLCN5c.327A>T (p.Lys109Asn)
c.117A>T (p.Lys39Asn)
c.614A>T
c.177A>T (p.Lys59Asn)
c.339A>T (p.Lys113Asn)
Xg.50072501A>CCA413182229CLCN5c.328A>C (p.Ser110Arg)
c.118A>C (p.Ser40Arg)
c.615A>C
c.178A>C (p.Ser60Arg)
c.340A>C (p.Ser114Arg)
Xg.50072501A>GCA413182230CLCN5c.328A>G (p.Ser110Gly)
c.118A>G (p.Ser40Gly)
c.615A>G
c.178A>G (p.Ser60Gly)
c.340A>G (p.Ser114Gly)
 gnomAD v4
Xg.50072501A>TCA413182231CLCN5c.328A>T (p.Ser110Cys)
c.118A>T (p.Ser40Cys)
c.615A>T
c.178A>T (p.Ser60Cys)
c.340A>T (p.Ser114Cys)
Xg.50072502G>ACA413182232CLCN5c.329G>A (p.Ser110Asn)
c.119G>A (p.Ser40Asn)
c.616G>A
c.179G>A (p.Ser60Asn)
c.341G>A (p.Ser114Asn)
 ClinVar
Xg.50072502G>CCA413182234CLCN5c.329G>C (p.Ser110Thr)
c.119G>C (p.Ser40Thr)
c.616G>C
c.179G>C (p.Ser60Thr)
c.341G>C (p.Ser114Thr)
Xg.50072502G>TCA413182233CLCN5c.329G>T (p.Ser110Ile)
c.119G>T (p.Ser40Ile)
c.616G>T
c.179G>T (p.Ser60Ile)
c.341G>T (p.Ser114Ile)
Xg.50072503C>ACA413182235CLCN5c.330C>A (p.Ser110Arg)
c.120C>A (p.Ser40Arg)
c.617C>A
c.180C>A (p.Ser60Arg)
c.342C>A (p.Ser114Arg)
 gnomAD v4
Xg.50072503C>GCA413182236CLCN5c.330C>G (p.Ser110Arg)
c.120C>G (p.Ser40Arg)
c.617C>G
c.180C>G (p.Ser60Arg)
c.342C>G (p.Ser114Arg)
Xg.50072503C>TCA516468108CLCN5c.330C>T (p.Ser110=)
c.120C>T (p.Ser40=)
c.617C>T
c.180C>T (p.Ser60=)
c.342C>T (p.Ser114=)
Xg.50072503_50072505delinsCAACA2428764169CLCN5c.330_332delinsCAA (p.Ser110=)
c.120_122delinsCAA (p.Ser40=)
c.617_619delinsCAA
c.180_182delinsCAA (p.Ser60=)
c.342_344delinsCAA (p.Ser114=)
Xg.50072504A=CA2428764170CLCN5c.331A= (p.Lys111=)
c.121A= (p.Lys41=)
c.618A=
c.181A= (p.Lys61=)
c.343A= (p.Lys115=)
Xg.50072504A>CCA10413716CLCN5c.331A>C (p.Lys111Gln)
c.121A>C (p.Lys41Gln)
c.618A>C
c.181A>C (p.Lys61Gln)
c.343A>C (p.Lys115Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072504A>GCA413182237CLCN5c.331A>G (p.Lys111Glu)
c.121A>G (p.Lys41Glu)
c.618A>G
c.181A>G (p.Lys61Glu)
c.343A>G (p.Lys115Glu)
 gnomAD v4
Xg.50072504A>TCA413182238CLCN5c.331A>T (p.Lys111Ter)
c.121A>T (p.Lys41Ter)
c.618A>T
c.181A>T (p.Lys61Ter)
c.343A>T (p.Lys115Ter)
Xg.50072505_50072506delCA1139667538CLCN5c.332_333del (p.Lys111ArgfsTer12)
c.122_123del (p.Lys41ArgfsTer12)
c.619_620del
c.182_183del (p.Lys61ArgfsTer12)
c.344_345del (p.Lys115ArgfsTer12)
 ClinVar dbSNP
Xg.50072505A=CA2428764171CLCN5c.332A= (p.Lys111=)
c.122A= (p.Lys41=)
c.619A=
c.182A= (p.Lys61=)
c.344A= (p.Lys115=)
Xg.50072505A>CCA413182239CLCN5c.332A>C (p.Lys111Thr)
c.122A>C (p.Lys41Thr)
c.619A>C
c.182A>C (p.Lys61Thr)
c.344A>C (p.Lys115Thr)
Xg.50072505A>GCA413182240CLCN5c.332A>G (p.Lys111Arg)
c.122A>G (p.Lys41Arg)
c.619A>G
c.182A>G (p.Lys61Arg)
c.344A>G (p.Lys115Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072505A>TCA413182241CLCN5c.332A>T (p.Lys111Ile)
c.122A>T (p.Lys41Ile)
c.619A>T
c.182A>T (p.Lys61Ile)
c.344A>T (p.Lys115Ile)
Xg.50072506A=CA2428764172CLCN5c.333A= (p.Lys111=)
c.123A= (p.Lys41=)
c.620A=
c.183A= (p.Lys61=)
c.345A= (p.Lys115=)
Xg.50072506A>CCA413182242CLCN5c.333A>C (p.Lys111Asn)
c.123A>C (p.Lys41Asn)
c.620A>C
c.183A>C (p.Lys61Asn)
c.345A>C (p.Lys115Asn)
Xg.50072506A>GCA516468117CLCN5c.333A>G (p.Lys111=)
c.123A>G (p.Lys41=)
c.620A>G
c.183A>G (p.Lys61=)
c.345A>G (p.Lys115=)
 dbSNP gnomAD v4
Xg.50072506A>TCA413182243CLCN5c.333A>T (p.Lys111Asn)
c.123A>T (p.Lys41Asn)
c.620A>T
c.183A>T (p.Lys61Asn)
c.345A>T (p.Lys115Asn)
Xg.50072507G>ACA413182246CLCN5c.334G>A (p.Glu112Lys)
c.124G>A (p.Glu42Lys)
c.621G>A
c.184G>A (p.Glu62Lys)
c.346G>A (p.Glu116Lys)
 gnomAD v4
Xg.50072507G>CCA413182245CLCN5c.334G>C (p.Glu112Gln)
c.124G>C (p.Glu42Gln)
c.621G>C
c.184G>C (p.Glu62Gln)
c.346G>C (p.Glu116Gln)
Xg.50072507G=CA2428764173CLCN5c.334G= (p.Glu112=)
c.124G= (p.Glu42=)
c.621G=
c.184G= (p.Glu62=)
c.346G= (p.Glu116=)
Xg.50072507G>TCA413182244CLCN5c.334G>T (p.Glu112Ter)
c.124G>T (p.Glu42Ter)
c.621G>T
c.184G>T (p.Glu62Ter)
c.346G>T (p.Glu116Ter)
 ClinVar dbSNP
Xg.50072508delCA2695234146CLCN5c.335del (p.Glu112GlyfsTer6)
c.125del (p.Glu42GlyfsTer6)
c.622del
c.185del (p.Glu62GlyfsTer6)
c.347del (p.Glu116GlyfsTer6)
Xg.50072508A>CCA413182249CLCN5c.335A>C (p.Glu112Ala)
c.125A>C (p.Glu42Ala)
c.622A>C
c.185A>C (p.Glu62Ala)
c.347A>C (p.Glu116Ala)
 gnomAD v4
Xg.50072508A>GCA413182247CLCN5c.335A>G (p.Glu112Gly)
c.125A>G (p.Glu42Gly)
c.622A>G
c.185A>G (p.Glu62Gly)
c.347A>G (p.Glu116Gly)
Xg.50072508A>TCA413182248CLCN5c.335A>T (p.Glu112Val)
c.125A>T (p.Glu42Val)
c.622A>T
c.185A>T (p.Glu62Val)
c.347A>T (p.Glu116Val)
Xg.50072509G>ACA516468128CLCN5c.336G>A (p.Glu112=)
c.126G>A (p.Glu42=)
c.623G>A
c.186G>A (p.Glu62=)
c.348G>A (p.Glu116=)
Xg.50072509G>CCA413182250CLCN5c.336G>C (p.Glu112Asp)
c.126G>C (p.Glu42Asp)
c.623G>C
c.186G>C (p.Glu62Asp)
c.348G>C (p.Glu116Asp)
Xg.50072509G>TCA413182251CLCN5c.336G>T (p.Glu112Asp)
c.126G>T (p.Glu42Asp)
c.623G>T
c.186G>T (p.Glu62Asp)
c.348G>T (p.Glu116Asp)
Xg.50072510T>ACA413182252CLCN5c.337T>A (p.Ser113Thr)
c.127T>A (p.Ser43Thr)
c.624T>A
c.187T>A (p.Ser63Thr)
c.349T>A (p.Ser117Thr)
Xg.50072510T>CCA413182253CLCN5c.337T>C (p.Ser113Pro)
c.127T>C (p.Ser43Pro)
c.624T>C
c.187T>C (p.Ser63Pro)
c.349T>C (p.Ser117Pro)
Xg.50072510T>GCA413182254CLCN5c.337T>G (p.Ser113Ala)
c.127T>G (p.Ser43Ala)
c.624T>G
c.187T>G (p.Ser63Ala)
c.349T>G (p.Ser117Ala)
Xg.50072511delCA2580618238CLCN5c.338del (p.Ser113Ter)
c.128del (p.Ser43Ter)
c.625del
c.188del (p.Ser63Ter)
c.350del (p.Ser117Ter)
Xg.50072511C>ACA413182255CLCN5c.338C>A (p.Ser113Ter)
c.128C>A (p.Ser43Ter)
c.625C>A
c.188C>A (p.Ser63Ter)
c.350C>A (p.Ser117Ter)
Xg.50072511C>GCA413182256CLCN5c.338C>G (p.Ser113Ter)
c.128C>G (p.Ser43Ter)
c.625C>G
c.188C>G (p.Ser63Ter)
c.350C>G (p.Ser117Ter)
Xg.50072511C>TCA413182257CLCN5c.338C>T (p.Ser113Leu)
c.128C>T (p.Ser43Leu)
c.625C>T
c.188C>T (p.Ser63Leu)
c.350C>T (p.Ser117Leu)
Xg.50072512A>CCA516468137CLCN5c.339A>C (p.Ser113=)
c.129A>C (p.Ser43=)
c.626A>C
c.189A>C (p.Ser63=)
c.351A>C (p.Ser117=)
Xg.50072512A>GCA516468138CLCN5c.339A>G (p.Ser113=)
c.129A>G (p.Ser43=)
c.626A>G
c.189A>G (p.Ser63=)
c.351A>G (p.Ser117=)
Xg.50072512A>TCA516468140CLCN5c.339A>T (p.Ser113=)
c.129A>T (p.Ser43=)
c.626A>T
c.189A>T (p.Ser63=)
c.351A>T (p.Ser117=)
Xg.50072513A>CCA413182258CLCN5c.340A>C (p.Thr114Pro)
c.130A>C (p.Thr44Pro)
c.627A>C
c.190A>C (p.Thr64Pro)
c.352A>C (p.Thr118Pro)
Xg.50072513A>GCA413182259CLCN5c.340A>G (p.Thr114Ala)
c.130A>G (p.Thr44Ala)
c.627A>G
c.190A>G (p.Thr64Ala)
c.352A>G (p.Thr118Ala)
Xg.50072513A>TCA413182260CLCN5c.340A>T (p.Thr114Ser)
c.130A>T (p.Thr44Ser)
c.627A>T
c.190A>T (p.Thr64Ser)
c.352A>T (p.Thr118Ser)
Xg.50072514C>ACA413182263CLCN5c.341C>A (p.Thr114Lys)
c.131C>A (p.Thr44Lys)
c.628C>A
c.191C>A (p.Thr64Lys)
c.353C>A (p.Thr118Lys)
Xg.50072514C>GCA413182261CLCN5c.341C>G (p.Thr114Arg)
c.131C>G (p.Thr44Arg)
c.628C>G
c.191C>G (p.Thr64Arg)
c.353C>G (p.Thr118Arg)
Xg.50072514C>TCA413182262CLCN5c.341C>T (p.Thr114Ile)
c.131C>T (p.Thr44Ile)
c.628C>T
c.191C>T (p.Thr64Ile)
c.353C>T (p.Thr118Ile)
Xg.50072515delCA2695234147CLCN5c.342del (p.Trp115GlyfsTer3)
c.132del (p.Trp45GlyfsTer3)
c.629del
c.192del (p.Trp65GlyfsTer3)
c.354del (p.Trp119GlyfsTer3)
Xg.50072515A=CA2428764174CLCN5c.342A= (p.Thr114=)
c.132A= (p.Thr44=)
c.629A=
c.192A= (p.Thr64=)
c.354A= (p.Thr118=)
Xg.50072515A>CCA516468148CLCN5c.342A>C (p.Thr114=)
c.132A>C (p.Thr44=)
c.629A>C
c.192A>C (p.Thr64=)
c.354A>C (p.Thr118=)
Xg.50072515A>GCA10413717CLCN5c.342A>G (p.Thr114=)
c.132A>G (p.Thr44=)
c.629A>G
c.192A>G (p.Thr64=)
c.354A>G (p.Thr118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072515A>TCA516468149CLCN5c.342A>T (p.Thr114=)
c.132A>T (p.Thr44=)
c.629A>T
c.192A>T (p.Thr64=)
c.354A>T (p.Thr118=)
Xg.50072516T>ACA413182264CLCN5c.343T>A (p.Trp115Arg)
c.133T>A (p.Trp45Arg)
c.630T>A
c.193T>A (p.Trp65Arg)
c.355T>A (p.Trp119Arg)
Xg.50072516T>CCA413182265CLCN5c.343T>C (p.Trp115Arg)
c.133T>C (p.Trp45Arg)
c.630T>C
c.193T>C (p.Trp65Arg)
c.355T>C (p.Trp119Arg)
Xg.50072516T>GCA413182266CLCN5c.343T>G (p.Trp115Gly)
c.133T>G (p.Trp45Gly)
c.630T>G
c.193T>G (p.Trp65Gly)
c.355T>G (p.Trp119Gly)
Xg.50072517G>ACA413182267CLCN5c.344G>A (p.Trp115Ter)
c.134G>A (p.Trp45Ter)
c.631G>A
c.194G>A (p.Trp65Ter)
c.356G>A (p.Trp119Ter)
 ClinVar dbSNP
Xg.50072517G>CCA413182268CLCN5c.344G>C (p.Trp115Ser)
c.134G>C (p.Trp45Ser)
c.631G>C
c.194G>C (p.Trp65Ser)
c.356G>C (p.Trp119Ser)
Xg.50072517G=CA2428764175CLCN5c.344G= (p.Trp115=)
c.134G= (p.Trp45=)
c.631G=
c.194G= (p.Trp65=)
c.356G= (p.Trp119=)
Xg.50072517G>TCA413182269CLCN5c.344G>T (p.Trp115Leu)
c.134G>T (p.Trp45Leu)
c.631G>T
c.194G>T (p.Trp65Leu)
c.356G>T (p.Trp119Leu)
Xg.50072519delCA2579610589CLCN5c.346del (p.Ala116ProfsTer2)
c.136del (p.Ala46ProfsTer2)
c.633del
c.196del (p.Ala66ProfsTer2)
c.358del (p.Ala120ProfsTer2)
Xg.50072518G>ACA413182270CLCN5c.345G>A (p.Trp115Ter)
c.135G>A (p.Trp45Ter)
c.632G>A
c.195G>A (p.Trp65Ter)
c.357G>A (p.Trp119Ter)
Xg.50072518G>CCA413182271CLCN5c.345G>C (p.Trp115Cys)
c.135G>C (p.Trp45Cys)
c.632G>C
c.195G>C (p.Trp65Cys)
c.357G>C (p.Trp119Cys)
Xg.50072518G>TCA413182272CLCN5c.345G>T (p.Trp115Cys)
c.135G>T (p.Trp45Cys)
c.632G>T
c.195G>T (p.Trp65Cys)
c.357G>T (p.Trp119Cys)
Xg.50072519G>ACA413182273CLCN5c.346G>A (p.Ala116Thr)
c.136G>A (p.Ala46Thr)
c.633G>A
c.196G>A (p.Ala66Thr)
c.358G>A (p.Ala120Thr)
 ClinVar
Xg.50072519G>CCA413182274CLCN5c.346G>C (p.Ala116Pro)
c.136G>C (p.Ala46Pro)
c.633G>C
c.196G>C (p.Ala66Pro)
c.358G>C (p.Ala120Pro)
Xg.50072519G>TCA413182275CLCN5c.346G>T (p.Ala116Ser)
c.136G>T (p.Ala46Ser)
c.633G>T
c.196G>T (p.Ala66Ser)
c.358G>T (p.Ala120Ser)
Xg.50072520C>ACA413182278CLCN5c.347C>A (p.Ala116Asp)
c.137C>A (p.Ala46Asp)
c.634C>A
c.197C>A (p.Ala66Asp)
c.359C>A (p.Ala120Asp)
Xg.50072520C>GCA413182277CLCN5c.347C>G (p.Ala116Gly)
c.137C>G (p.Ala46Gly)
c.634C>G
c.197C>G (p.Ala66Gly)
c.359C>G (p.Ala120Gly)
Xg.50072520C>TCA413182276CLCN5c.347C>T (p.Ala116Val)
c.137C>T (p.Ala46Val)
c.634C>T
c.197C>T (p.Ala66Val)
c.359C>T (p.Ala120Val)
Xg.50072521C>ACA516468167CLCN5c.348C>A (p.Ala116=)
c.138C>A (p.Ala46=)
c.635C>A
c.198C>A (p.Ala66=)
c.360C>A (p.Ala120=)
Xg.50072521C>GCA516468169CLCN5c.348C>G (p.Ala116=)
c.138C>G (p.Ala46=)
c.635C>G
c.198C>G (p.Ala66=)
c.360C>G (p.Ala120=)
Xg.50072521C>TCA516468171CLCN5c.348C>T (p.Ala116=)
c.138C>T (p.Ala46=)
c.635C>T
c.198C>T (p.Ala66=)
c.360C>T (p.Ala120=)
Xg.50072522T>ACA413182279CLCN5c.349T>A (p.Leu117Ile)
c.139T>A (p.Leu47Ile)
c.636T>A
c.199T>A (p.Leu67Ile)
c.361T>A (p.Leu121Ile)
Xg.50072522T>CCA516468174CLCN5c.349T>C (p.Leu117=)
c.139T>C (p.Leu47=)
c.636T>C
c.199T>C (p.Leu67=)
c.361T>C (p.Leu121=)
Xg.50072522T>GCA413182280CLCN5c.349T>G (p.Leu117Val)
c.139T>G (p.Leu47Val)
c.636T>G
c.199T>G (p.Leu67Val)
c.361T>G (p.Leu121Val)
Xg.50072523T>ACA413182281CLCN5c.350T>A (p.Leu117Ter)
c.140T>A (p.Leu47Ter)
c.637T>A
c.200T>A (p.Leu67Ter)
c.362T>A (p.Leu121Ter)
Xg.50072523T>CCA413182282CLCN5c.350T>C (p.Leu117Ser)
c.140T>C (p.Leu47Ser)
c.637T>C
c.200T>C (p.Leu67Ser)
c.362T>C (p.Leu121Ser)
Xg.50072523T>GCA413182283CLCN5c.350T>G (p.Leu117Ter)
c.140T>G (p.Leu47Ter)
c.637T>G
c.200T>G (p.Leu67Ter)
c.362T>G (p.Leu121Ter)
Xg.50072524A=CA2428764176CLCN5c.351A= (p.Leu117=)
c.141A= (p.Leu47=)
c.638A=
c.201A= (p.Leu67=)
c.363A= (p.Leu121=)
Xg.50072524A>CCA413182284CLCN5c.351A>C (p.Leu117Phe)
c.141A>C (p.Leu47Phe)
c.638A>C
c.201A>C (p.Leu67Phe)
c.363A>C (p.Leu121Phe)
Xg.50072524A>GCA516468181CLCN5c.351A>G (p.Leu117=)
c.141A>G (p.Leu47=)
c.638A>G
c.201A>G (p.Leu67=)
c.363A>G (p.Leu121=)
Xg.50072524A>TCA413182285CLCN5c.351A>T (p.Leu117Phe)
c.141A>T (p.Leu47Phe)
c.638A>T
c.201A>T (p.Leu67Phe)
c.363A>T (p.Leu121Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072525A>CCA413182286CLCN5c.352A>C (p.Ile118Leu)
c.142A>C (p.Ile48Leu)
c.639A>C
c.202A>C (p.Ile68Leu)
c.364A>C (p.Ile122Leu)
Xg.50072525A>GCA413182288CLCN5c.352A>G (p.Ile118Val)
c.142A>G (p.Ile48Val)
c.639A>G
c.202A>G (p.Ile68Val)
c.364A>G (p.Ile122Val)
Xg.50072525A>TCA413182287CLCN5c.352A>T (p.Ile118Phe)
c.142A>T (p.Ile48Phe)
c.639A>T
c.202A>T (p.Ile68Phe)
c.364A>T (p.Ile122Phe)
Xg.50072526T>ACA413182289CLCN5c.353T>A (p.Ile118Asn)
c.143T>A (p.Ile48Asn)
c.640T>A
c.203T>A (p.Ile68Asn)
c.365T>A (p.Ile122Asn)
Xg.50072526T>CCA413182290CLCN5c.353T>C (p.Ile118Thr)
c.143T>C (p.Ile48Thr)
c.640T>C
c.203T>C (p.Ile68Thr)
c.365T>C (p.Ile122Thr)
Xg.50072526T>GCA413182291CLCN5c.353T>G (p.Ile118Ser)
c.143T>G (p.Ile48Ser)
c.640T>G
c.203T>G (p.Ile68Ser)
c.365T>G (p.Ile122Ser)
Xg.50072527T>ACA516468190CLCN5c.354T>A (p.Ile118=)
c.144T>A (p.Ile48=)
c.641T>A
c.204T>A (p.Ile68=)
c.366T>A (p.Ile122=)
Xg.50072527T>CCA516468192CLCN5c.354T>C (p.Ile118=)
c.144T>C (p.Ile48=)
c.641T>C
c.204T>C (p.Ile68=)
c.366T>C (p.Ile122=)
 gnomAD v4
Xg.50072527T>GCA413182292CLCN5c.354T>G (p.Ile118Met)
c.144T>G (p.Ile48Met)
c.641T>G
c.204T>G (p.Ile68Met)
c.366T>G (p.Ile122Met)
Xg.50072528C>ACA413182295CLCN5c.355C>A (p.His119Asn)
c.145C>A (p.His49Asn)
c.642C>A
c.205C>A (p.His69Asn)
c.367C>A (p.His123Asn)
 gnomAD v4
Xg.50072528C>GCA413182293CLCN5c.355C>G (p.His119Asp)
c.145C>G (p.His49Asp)
c.642C>G
c.205C>G (p.His69Asp)
c.367C>G (p.His123Asp)
Xg.50072528C>TCA413182294CLCN5c.355C>T (p.His119Tyr)
c.145C>T (p.His49Tyr)
c.642C>T
c.205C>T (p.His69Tyr)
c.367C>T (p.His123Tyr)
 COSMIC COSMIC
Xg.50072530_50072531delCA2579610590CLCN5c.357_358del (p.His119GlnfsTer4)
c.147_148del (p.His49GlnfsTer4)
c.644_645del
c.207_208del (p.His69GlnfsTer4)
c.369_370del (p.His123GlnfsTer4)
Xg.50072529A>CCA413182296CLCN5c.356A>C (p.His119Pro)
c.146A>C (p.His49Pro)
c.643A>C
c.206A>C (p.His69Pro)
c.368A>C (p.His123Pro)
Xg.50072529A>GCA413182297CLCN5c.356A>G (p.His119Arg)
c.146A>G (p.His49Arg)
c.643A>G
c.206A>G (p.His69Arg)
c.368A>G (p.His123Arg)
Xg.50072529A>TCA413182298CLCN5c.356A>T (p.His119Leu)
c.146A>T (p.His49Leu)
c.643A>T
c.206A>T (p.His69Leu)
c.368A>T (p.His123Leu)
Xg.50072530C>ACA413182299CLCN5c.357C>A (p.His119Gln)
c.147C>A (p.His49Gln)
c.644C>A
c.207C>A (p.His69Gln)
c.369C>A (p.His123Gln)
Xg.50072530C>GCA413182300CLCN5c.357C>G (p.His119Gln)
c.147C>G (p.His49Gln)
c.644C>G
c.207C>G (p.His69Gln)
c.369C>G (p.His123Gln)
Xg.50072530C>TCA516468202CLCN5c.357C>T (p.His119=)
c.147C>T (p.His49=)
c.644C>T
c.207C>T (p.His69=)
c.369C>T (p.His123=)
Xg.50072531A>CCA413182301CLCN5c.358A>C (p.Ser120Arg)
c.148A>C (p.Ser50Arg)
c.645A>C
c.208A>C (p.Ser70Arg)
c.370A>C (p.Ser124Arg)
Xg.50072531A>GCA413182302CLCN5c.358A>G (p.Ser120Gly)
c.148A>G (p.Ser50Gly)
c.645A>G
c.208A>G (p.Ser70Gly)
c.370A>G (p.Ser124Gly)
 COSMIC COSMIC
Xg.50072531A>TCA413182303CLCN5c.358A>T (p.Ser120Cys)
c.148A>T (p.Ser50Cys)
c.645A>T
c.208A>T (p.Ser70Cys)
c.370A>T (p.Ser124Cys)
Xg.50072532G>ACA413182304CLCN5c.359G>A (p.Ser120Asn)
c.149G>A (p.Ser50Asn)
c.646G>A
c.209G>A (p.Ser70Asn)
c.371G>A (p.Ser124Asn)
Xg.50072532G>CCA413182305CLCN5c.359G>C (p.Ser120Thr)
c.149G>C (p.Ser50Thr)
c.646G>C
c.209G>C (p.Ser70Thr)
c.371G>C (p.Ser124Thr)
Xg.50072532G>TCA413182306CLCN5c.359G>T (p.Ser120Ile)
c.149G>T (p.Ser50Ile)
c.646G>T
c.209G>T (p.Ser70Ile)
c.371G>T (p.Ser124Ile)
Xg.50072533T>ACA413182307CLCN5c.360T>A (p.Ser120Arg)
c.150T>A (p.Ser50Arg)
c.647T>A
c.210T>A (p.Ser70Arg)
c.372T>A (p.Ser124Arg)
Xg.50072533T>CCA516468214CLCN5c.360T>C (p.Ser120=)
c.150T>C (p.Ser50=)
c.647T>C
c.210T>C (p.Ser70=)
c.372T>C (p.Ser124=)
 dbSNP gnomAD v4
Xg.50072533T>GCA413182308CLCN5c.360T>G (p.Ser120Arg)
c.150T>G (p.Ser50Arg)
c.647T>G
c.210T>G (p.Ser70Arg)
c.372T>G (p.Ser124Arg)
Xg.50072533T=CA2428764177CLCN5c.360T= (p.Ser120=)
c.150T= (p.Ser50=)
c.647T=
c.210T= (p.Ser70=)
c.372T= (p.Ser124=)
Xg.50072534G>ACA10413718CLCN5c.361G>A (p.Val121Met)
c.151G>A (p.Val51Met)
c.648G>A
c.211G>A (p.Val71Met)
c.373G>A (p.Val125Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50072534G>CCA413182309CLCN5c.361G>C (p.Val121Leu)
c.151G>C (p.Val51Leu)
c.648G>C
c.211G>C (p.Val71Leu)
c.373G>C (p.Val125Leu)
Xg.50072534G=CA2428764178CLCN5c.361G= (p.Val121=)
c.151G= (p.Val51=)
c.648G=
c.211G= (p.Val71=)
c.373G= (p.Val125=)
Xg.50072534G>TCA413182310CLCN5c.361G>T (p.Val121Leu)
c.151G>T (p.Val51Leu)
c.648G>T
c.211G>T (p.Val71Leu)
c.373G>T (p.Val125Leu)
Xg.50072535T>ACA413182311CLCN5c.362T>A (p.Val121Glu)
c.152T>A (p.Val51Glu)
c.649T>A
c.212T>A (p.Val71Glu)
c.374T>A (p.Val125Glu)
Xg.50072535T>CCA413182312CLCN5c.362T>C (p.Val121Ala)
c.152T>C (p.Val51Ala)
c.649T>C
c.212T>C (p.Val71Ala)
c.374T>C (p.Val125Ala)
Xg.50072535T>GCA413182313CLCN5c.362T>G (p.Val121Gly)
c.152T>G (p.Val51Gly)
c.649T>G
c.212T>G (p.Val71Gly)
c.374T>G (p.Val125Gly)
Xg.50072536G>ACA516468224CLCN5c.363G>A (p.Val121=)
c.153G>A (p.Val51=)
c.650G>A
c.213G>A (p.Val71=)
c.375G>A (p.Val125=)
Xg.50072536G>CCA516468225CLCN5c.363G>C (p.Val121=)
c.153G>C (p.Val51=)
c.650G>C
c.213G>C (p.Val71=)
c.375G>C (p.Val125=)
Xg.50072536G>TCA516468227CLCN5c.363G>T (p.Val121=)
c.153G>T (p.Val51=)
c.650G>T
c.213G>T (p.Val71=)
c.375G>T (p.Val125=)
Xg.50072537A>CCA413182314CLCN5c.364A>C (p.Ser122Arg)
c.154A>C (p.Ser52Arg)
c.651A>C
c.214A>C (p.Ser72Arg)
c.376A>C (p.Ser126Arg)
 gnomAD v4
Xg.50072537A>GCA413182315CLCN5c.364A>G (p.Ser122Gly)
c.154A>G (p.Ser52Gly)
c.651A>G
c.214A>G (p.Ser72Gly)
c.376A>G (p.Ser126Gly)
Xg.50072537A>TCA413182316CLCN5c.364A>T (p.Ser122Cys)
c.154A>T (p.Ser52Cys)
c.651A>T
c.214A>T (p.Ser72Cys)
c.376A>T (p.Ser126Cys)
Xg.50072538G>ACA413182319CLCN5c.365G>A (p.Ser122Asn)
c.155G>A (p.Ser52Asn)
c.652G>A
c.215G>A (p.Ser72Asn)
c.377G>A (p.Ser126Asn)
Xg.50072538G>CCA413182317CLCN5c.365G>C (p.Ser122Thr)
c.155G>C (p.Ser52Thr)
c.652G>C
c.215G>C (p.Ser72Thr)
c.377G>C (p.Ser126Thr)
 dbSNP
Xg.50072538G=CA2428764179CLCN5c.365G= (p.Ser122=)
c.155G= (p.Ser52=)
c.652G=
c.215G= (p.Ser72=)
c.377G= (p.Ser126=)
Xg.50072538G>TCA413182318CLCN5c.365G>T (p.Ser122Ile)
c.155G>T (p.Ser52Ile)
c.652G>T
c.215G>T (p.Ser72Ile)
c.377G>T (p.Ser126Ile)
Xg.50072539T>ACA413182320CLCN5c.366T>A (p.Ser122Arg)
c.156T>A (p.Ser52Arg)
c.653T>A
c.216T>A (p.Ser72Arg)
c.378T>A (p.Ser126Arg)
Xg.50072539T>CCA516468236CLCN5c.366T>C (p.Ser122=)
c.156T>C (p.Ser52=)
c.653T>C
c.216T>C (p.Ser72=)
c.378T>C (p.Ser126=)
Xg.50072539T>GCA413182321CLCN5c.366T>G (p.Ser122Arg)
c.156T>G (p.Ser52Arg)
c.653T>G
c.216T>G (p.Ser72Arg)
c.378T>G (p.Ser126Arg)
Xg.50072540G>ACA413182322CLCN5c.367G>A (p.Asp123Asn)
c.157G>A (p.Asp53Asn)
c.654G>A
c.217G>A (p.Asp73Asn)
c.379G>A (p.Asp127Asn)
Xg.50072540G>CCA413182323CLCN5c.367G>C (p.Asp123His)
c.157G>C (p.Asp53His)
c.654G>C
c.217G>C (p.Asp73His)
c.379G>C (p.Asp127His)
Xg.50072540G>TCA413182324CLCN5c.367G>T (p.Asp123Tyr)
c.157G>T (p.Asp53Tyr)
c.654G>T
c.217G>T (p.Asp73Tyr)
c.379G>T (p.Asp127Tyr)
Xg.50072541A>CCA413182325CLCN5c.368A>C (p.Asp123Ala)
c.158A>C (p.Asp53Ala)
c.655A>C
c.218A>C (p.Asp73Ala)
c.380A>C (p.Asp127Ala)
Xg.50072541A>GCA413182327CLCN5c.368A>G (p.Asp123Gly)
c.158A>G (p.Asp53Gly)
c.655A>G
c.218A>G (p.Asp73Gly)
c.380A>G (p.Asp127Gly)
Xg.50072541A>TCA413182326CLCN5c.368A>T (p.Asp123Val)
c.158A>T (p.Asp53Val)
c.655A>T
c.218A>T (p.Asp73Val)
c.380A>T (p.Asp127Val)
Xg.50072542T>ACA413182328CLCN5c.369T>A (p.Asp123Glu)
c.159T>A (p.Asp53Glu)
c.656T>A
c.219T>A (p.Asp73Glu)
c.381T>A (p.Asp127Glu)
Xg.50072542T>CCA516468247CLCN5c.369T>C (p.Asp123=)
c.159T>C (p.Asp53=)
c.656T>C
c.219T>C (p.Asp73=)
c.381T>C (p.Asp127=)
 dbSNP gnomAD v4
Xg.50072542T>GCA413182329CLCN5c.369T>G (p.Asp123Glu)
c.159T>G (p.Asp53Glu)
c.656T>G
c.219T>G (p.Asp73Glu)
c.381T>G (p.Asp127Glu)
Xg.50072542T=CA2428764180CLCN5c.369T= (p.Asp123=)
c.159T= (p.Asp53=)
c.656T=
c.219T= (p.Asp73=)
c.381T= (p.Asp127=)
Xg.50072543G>ACA413182330CLCN5c.370G>A (p.Ala124Thr)
c.160G>A (p.Ala54Thr)
c.657G>A
c.220G>A (p.Ala74Thr)
c.382G>A (p.Ala128Thr)
 gnomAD v4
Xg.50072543G>CCA413182331CLCN5c.370G>C (p.Ala124Pro)
c.160G>C (p.Ala54Pro)
c.657G>C
c.220G>C (p.Ala74Pro)
c.382G>C (p.Ala128Pro)
Xg.50072543G>TCA413182332CLCN5c.370G>T (p.Ala124Ser)
c.160G>T (p.Ala54Ser)
c.657G>T
c.220G>T (p.Ala74Ser)
c.382G>T (p.Ala128Ser)
Xg.50072544C>ACA413182333CLCN5c.371C>A (p.Ala124Asp)
c.161C>A (p.Ala54Asp)
c.658C>A
c.221C>A (p.Ala74Asp)
c.383C>A (p.Ala128Asp)
Xg.50072544C>GCA413182334CLCN5c.371C>G (p.Ala124Gly)
c.161C>G (p.Ala54Gly)
c.658C>G
c.221C>G (p.Ala74Gly)
c.383C>G (p.Ala128Gly)
Xg.50072544C>TCA413182335CLCN5c.371C>T (p.Ala124Val)
c.161C>T (p.Ala54Val)
c.658C>T
c.221C>T (p.Ala74Val)
c.383C>T (p.Ala128Val)
Xg.50072544dupCA2695234148CLCN5c.371dup (p.Ser126PhefsTer?)
c.161dup (p.Ser56PhefsTer?)
c.658dup
c.221dup (p.Ser76PhefsTer?)
c.383dup (p.Ser130PhefsTer?)
Xg.50072545T>ACA516468256CLCN5c.372T>A (p.Ala124=)
c.162T>A (p.Ala54=)
c.659T>A
c.222T>A (p.Ala74=)
c.384T>A (p.Ala128=)
Xg.50072545T>CCA516468258CLCN5c.372T>C (p.Ala124=)
c.162T>C (p.Ala54=)
c.659T>C
c.222T>C (p.Ala74=)
c.384T>C (p.Ala128=)
Xg.50072545T>GCA516468260CLCN5c.372T>G (p.Ala124=)
c.162T>G (p.Ala54=)
c.659T>G
c.222T>G (p.Ala74=)
c.384T>G (p.Ala128=)
Xg.50072549delCA2693736173CLCN5c.376del (p.Ser126ProfsTer5)
c.166del (p.Ser56ProfsTer5)
c.663del
c.226del (p.Ser76ProfsTer5)
c.388del (p.Ser130ProfsTer5)
 gnomAD v4
Xg.50072546T>ACA413182336CLCN5c.373T>A (p.Phe125Ile)
c.163T>A (p.Phe55Ile)
c.660T>A
c.223T>A (p.Phe75Ile)
c.385T>A (p.Phe129Ile)
Xg.50072546T>CCA413182337CLCN5c.373T>C (p.Phe125Leu)
c.163T>C (p.Phe55Leu)
c.660T>C
c.223T>C (p.Phe75Leu)
c.385T>C (p.Phe129Leu)
Xg.50072546T>GCA413182338CLCN5c.373T>G (p.Phe125Val)
c.163T>G (p.Phe55Val)
c.660T>G
c.223T>G (p.Phe75Val)
c.385T>G (p.Phe129Val)
Xg.50072547T>ACA413182339CLCN5c.374T>A (p.Phe125Tyr)
c.164T>A (p.Phe55Tyr)
c.661T>A
c.224T>A (p.Phe75Tyr)
c.386T>A (p.Phe129Tyr)
Xg.50072547T>CCA413182341CLCN5c.374T>C (p.Phe125Ser)
c.164T>C (p.Phe55Ser)
c.661T>C
c.224T>C (p.Phe75Ser)
c.386T>C (p.Phe129Ser)
Xg.50072547T>GCA413182340CLCN5c.374T>G (p.Phe125Cys)
c.164T>G (p.Phe55Cys)
c.661T>G
c.224T>G (p.Phe75Cys)
c.386T>G (p.Phe129Cys)
Xg.50072548T>ACA413182342CLCN5c.375T>A (p.Phe125Leu)
c.165T>A (p.Phe55Leu)
c.662T>A
c.225T>A (p.Phe75Leu)
c.387T>A (p.Phe129Leu)
Xg.50072548T>CCA516468270CLCN5c.375T>C (p.Phe125=)
c.165T>C (p.Phe55=)
c.662T>C
c.225T>C (p.Phe75=)
c.387T>C (p.Phe129=)
Xg.50072548T>GCA413182343CLCN5c.375T>G (p.Phe125Leu)
c.165T>G (p.Phe55Leu)
c.662T>G
c.225T>G (p.Phe75Leu)
c.387T>G (p.Phe129Leu)
Xg.50072548_50072552delCA2695234149CLCN5c.375_379del (p.Phe125LeufsTer?)
c.165_169del (p.Phe55LeufsTer?)
c.662_666del
c.225_229del (p.Phe75LeufsTer?)
c.387_391del (p.Phe129LeufsTer?)
Xg.50072549T>ACA413182344CLCN5c.376T>A (p.Ser126Thr)
c.166T>A (p.Ser56Thr)
c.663T>A
c.226T>A (p.Ser76Thr)
c.388T>A (p.Ser130Thr)
Xg.50072549T>CCA413182345CLCN5c.376T>C (p.Ser126Pro)
c.166T>C (p.Ser56Pro)
c.663T>C
c.226T>C (p.Ser76Pro)
c.388T>C (p.Ser130Pro)
Xg.50072549T>GCA413182346CLCN5c.376T>G (p.Ser126Ala)
c.166T>G (p.Ser56Ala)
c.663T>G
c.226T>G (p.Ser76Ala)
c.388T>G (p.Ser130Ala)
Xg.50072550C>ACA413182347CLCN5c.377C>A (p.Ser126Tyr)
c.167C>A (p.Ser56Tyr)
c.664C>A
c.227C>A (p.Ser76Tyr)
c.389C>A (p.Ser130Tyr)
Xg.50072550C>GCA413182348CLCN5c.377C>G (p.Ser126Cys)
c.167C>G (p.Ser56Cys)
c.664C>G
c.227C>G (p.Ser76Cys)
c.389C>G (p.Ser130Cys)
Xg.50072550C>TCA413182349CLCN5c.377C>T (p.Ser126Phe)
c.167C>T (p.Ser56Phe)
c.664C>T
c.227C>T (p.Ser76Phe)
c.389C>T (p.Ser130Phe)
Xg.50072551C>ACA516468276CLCN5c.378C>A (p.Ser126=)
c.168C>A (p.Ser56=)
c.665C>A
c.228C>A (p.Ser76=)
c.390C>A (p.Ser130=)
Xg.50072551C=CA2428764181CLCN5c.378C= (p.Ser126=)
c.168C= (p.Ser56=)
c.665C=
c.228C= (p.Ser76=)
c.390C= (p.Ser130=)
Xg.50072551C>GCA516468278CLCN5c.378C>G (p.Ser126=)
c.168C>G (p.Ser56=)
c.665C>G
c.228C>G (p.Ser76=)
c.390C>G (p.Ser130=)
Xg.50072551C>TCA10413719CLCN5c.378C>T (p.Ser126=)
c.168C>T (p.Ser56=)
c.665C>T
c.228C>T (p.Ser76=)
c.390C>T (p.Ser130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.50072552G>ACA10413720CLCN5c.379G>A (p.Gly127Ser)
c.169G>A (p.Gly57Ser)
c.666G>A
c.229G>A (p.Gly77Ser)
c.391G>A (p.Gly131Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.50072552G>CCA413182350CLCN5c.379G>C (p.Gly127Arg)
c.169G>C (p.Gly57Arg)
c.666G>C
c.229G>C (p.Gly77Arg)
c.391G>C (p.Gly131Arg)
 ClinVar dbSNP
Xg.50072552G=CA2428764182CLCN5c.379G= (p.Gly127=)
c.169G= (p.Gly57=)
c.666G=
c.229G= (p.Gly77=)
c.391G= (p.Gly131=)
Xg.50072552G>TCA413182351CLCN5c.379G>T (p.Gly127Cys)
c.169G>T (p.Gly57Cys)
c.666G>T
c.229G>T (p.Gly77Cys)
c.391G>T (p.Gly131Cys)
Xg.50072553G>ACA413182352CLCN5c.380G>A (p.Gly127Asp)
c.170G>A (p.Gly57Asp)
c.667G>A
c.230G>A (p.Gly77Asp)
c.392G>A (p.Gly131Asp)
Xg.50072553G>CCA413182353CLCN5c.380G>C (p.Gly127Ala)
c.170G>C (p.Gly57Ala)
c.667G>C
c.230G>C (p.Gly77Ala)
c.392G>C (p.Gly131Ala)
Xg.50072553G=CA2428764183CLCN5c.380G= (p.Gly127=)
c.170G= (p.Gly57=)
c.667G=
c.230G= (p.Gly77=)
c.392G= (p.Gly131=)
Xg.50072553G>TCA121693CLCN5c.380G>T (p.Gly127Val)
c.170G>T (p.Gly57Val)
c.667G>T
c.230G>T (p.Gly77Val)
c.392G>T (p.Gly131Val)
 ClinVar dbSNP
Xg.50072554C>ACA516468290CLCN5c.381C>A (p.Gly127=)
c.171C>A (p.Gly57=)
c.668C>A
c.231C>A (p.Gly77=)
c.393C>A (p.Gly131=)
Xg.50072554C>GCA516468292CLCN5c.381C>G (p.Gly127=)
c.171C>G (p.Gly57=)
c.668C>G
c.231C>G (p.Gly77=)
c.393C>G (p.Gly131=)
Xg.50072554C>TCA516468294CLCN5c.381C>T (p.Gly127=)
c.171C>T (p.Gly57=)
c.668C>T
c.231C>T (p.Gly77=)
c.393C>T (p.Gly131=)
Xg.50072555T>ACA413182356CLCN5c.382T>A (p.Trp128Arg)
c.172T>A (p.Trp58Arg)
c.669T>A
c.232T>A (p.Trp78Arg)
c.394T>A (p.Trp132Arg)
Xg.50072555T>CCA413182354CLCN5c.382T>C (p.Trp128Arg)
c.172T>C (p.Trp58Arg)
c.669T>C
c.232T>C (p.Trp78Arg)
c.394T>C (p.Trp132Arg)
Xg.50072555T>GCA413182355CLCN5c.382T>G (p.Trp128Gly)
c.172T>G (p.Trp58Gly)
c.669T>G
c.232T>G (p.Trp78Gly)
c.394T>G (p.Trp132Gly)
Xg.50072555_50072556delCA2695234150CLCN5c.382_383del (p.Trp128ValfsTer?)
c.172_173del (p.Trp58ValfsTer?)
c.669_670del
c.232_233del (p.Trp78ValfsTer?)
c.394_395del (p.Trp132ValfsTer?)
Xg.50072556G>ACA413182357CLCN5c.383G>A (p.Trp128Ter)
c.173G>A (p.Trp58Ter)
c.670G>A
c.233G>A (p.Trp78Ter)
c.395G>A (p.Trp132Ter)
Xg.50072556G>CCA413182358CLCN5c.383G>C (p.Trp128Ser)
c.173G>C (p.Trp58Ser)
c.670G>C
c.233G>C (p.Trp78Ser)
c.395G>C (p.Trp132Ser)
Xg.50072556G>TCA413182359CLCN5c.383G>T (p.Trp128Leu)
c.173G>T (p.Trp58Leu)
c.670G>T
c.233G>T (p.Trp78Leu)
c.395G>T (p.Trp132Leu)
 COSMIC
Xg.50072557G>ACA413182360CLCN5c.384G>A (p.Trp128Ter)
c.174G>A (p.Trp58Ter)
c.671G>A
c.234G>A (p.Trp78Ter)
c.396G>A (p.Trp132Ter)
Xg.50072557G>CCA413182361CLCN5c.384G>C (p.Trp128Cys)
c.174G>C (p.Trp58Cys)
c.671G>C
c.234G>C (p.Trp78Cys)
c.396G>C (p.Trp132Cys)
 ClinVar dbSNP
Xg.50072557G=CA2428764184CLCN5c.384G= (p.Trp128=)
c.174G= (p.Trp58=)
c.671G=
c.234G= (p.Trp78=)
c.396G= (p.Trp132=)
Xg.50072557G>TCA413182362CLCN5c.384G>T (p.Trp128Cys)
c.174G>T (p.Trp58Cys)
c.671G>T
c.234G>T (p.Trp78Cys)
c.396G>T (p.Trp132Cys)
Xg.50072558T>ACA413182363CLCN5c.385T>A (p.Leu129Met)
c.175T>A (p.Leu59Met)
c.672T>A
c.235T>A (p.Leu79Met)
c.397T>A (p.Leu133Met)
Xg.50072558T>CCA516468307CLCN5c.385T>C (p.Leu129=)
c.175T>C (p.Leu59=)
c.672T>C
c.235T>C (p.Leu79=)
c.397T>C (p.Leu133=)
Xg.50072558T>GCA413182364CLCN5c.385T>G (p.Leu129Val)
c.175T>G (p.Leu59Val)
c.672T>G
c.235T>G (p.Leu79Val)
c.397T>G (p.Leu133Val)
Xg.50072559T>ACA413182365CLCN5c.386T>A (p.Leu129Ter)
c.176T>A (p.Leu59Ter)
c.673T>A
c.236T>A (p.Leu79Ter)
c.398T>A (p.Leu133Ter)
Xg.50072559T>CCA413182366CLCN5c.386T>C (p.Leu129Ser)
c.176T>C (p.Leu59Ser)
c.673T>C
c.236T>C (p.Leu79Ser)
c.398T>C (p.Leu133Ser)
Xg.50072559T>GCA413182367CLCN5c.386T>G (p.Leu129Trp)
c.176T>G (p.Leu59Trp)
c.673T>G
c.236T>G (p.Leu79Trp)
c.398T>G (p.Leu133Trp)
Xg.50072560G>ACA516468312CLCN5c.387G>A (p.Leu129=)
c.177G>A (p.Leu59=)
c.674G>A
c.237G>A (p.Leu79=)
c.399G>A (p.Leu133=)
Xg.50072560G>CCA413182368CLCN5c.387G>C (p.Leu129Phe)
c.177G>C (p.Leu59Phe)
c.674G>C
c.237G>C (p.Leu79Phe)
c.399G>C (p.Leu133Phe)
Xg.50072560G>TCA413182369CLCN5c.387G>T (p.Leu129Phe)
c.177G>T (p.Leu59Phe)
c.674G>T
c.237G>T (p.Leu79Phe)
c.399G>T (p.Leu133Phe)

Number of alleles fetched