Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143351549T>CCA2685382580CLCN1c.2596-45T>C (n.2596-45T>C)
c.2420-45T>C
n.2536-45T>C
c.2620-45T>C (n.2620-45T>C)
c.1342-45T>C (n.1342-45T>C)
c.2170-45T>C (n.2170-45T>C)
c.2146-45T>C (n.2146-45T>C)
n.2551-45T>C
 gnomAD v4
7g.143351550T>GCA2685382582CLCN1c.2596-44T>G (n.2596-44T>G)
c.2420-44T>G
n.2536-44T>G
c.2620-44T>G (n.2620-44T>G)
c.1342-44T>G (n.1342-44T>G)
c.2170-44T>G (n.2170-44T>G)
c.2146-44T>G (n.2146-44T>G)
n.2551-44T>G
 gnomAD v4
7g.143351551T>CCA2579051077CLCN1c.2596-43T>C (n.2596-43T>C)
c.2420-43T>C
n.2536-43T>C
c.2620-43T>C (n.2620-43T>C)
c.1342-43T>C (n.1342-43T>C)
c.2170-43T>C (n.2170-43T>C)
c.2146-43T>C (n.2146-43T>C)
n.2551-43T>C
7g.143351553T>ACA1748898221CLCN1c.2596-41T>A (n.2596-41T>A)
c.2420-41T>A
n.2536-41T>A
c.2620-41T>A (n.2620-41T>A)
c.1342-41T>A (n.1342-41T>A)
c.2170-41T>A (n.2170-41T>A)
c.2146-41T>A (n.2146-41T>A)
n.2551-41T>A
 dbSNP gnomAD v4
7g.143351553T>CCA4537745CLCN1c.2596-41T>C (n.2596-41T>C)
c.2420-41T>C
n.2536-41T>C
c.2620-41T>C (n.2620-41T>C)
c.1342-41T>C (n.1342-41T>C)
c.2170-41T>C (n.2170-41T>C)
c.2146-41T>C (n.2146-41T>C)
n.2551-41T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351553T=CA1748898222CLCN1c.2596-41T= (n.2596-41T=)
c.2420-41T=
n.2536-41T=
c.2620-41T= (n.2620-41T=)
c.1342-41T= (n.1342-41T=)
c.2170-41T= (n.2170-41T=)
c.2146-41T= (n.2146-41T=)
n.2551-41T=
7g.143351554C>ACA2685382584CLCN1c.2596-40C>A (n.2596-40C>A)
c.2420-40C>A
n.2536-40C>A
c.2620-40C>A (n.2620-40C>A)
c.1342-40C>A (n.1342-40C>A)
c.2170-40C>A (n.2170-40C>A)
c.2146-40C>A (n.2146-40C>A)
n.2551-40C>A
 gnomAD v4
7g.143351554C=CA1748898223CLCN1c.2596-40C= (n.2596-40C=)
c.2420-40C=
n.2536-40C=
c.2620-40C= (n.2620-40C=)
c.1342-40C= (n.1342-40C=)
c.2170-40C= (n.2170-40C=)
c.2146-40C= (n.2146-40C=)
n.2551-40C=
7g.143351554C>TCA4537746CLCN1c.2596-40C>T (n.2596-40C>T)
c.2420-40C>T
n.2536-40C>T
c.2620-40C>T (n.2620-40C>T)
c.1342-40C>T (n.1342-40C>T)
c.2170-40C>T (n.2170-40C>T)
c.2146-40C>T (n.2146-40C>T)
n.2551-40C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351554_143351558delCA2685382583CLCN1c.2596-40_2596-36del (n.2596-40_2596-36del)
c.2420-40_2420-36del
n.2536-40_2536-36del
c.2620-40_2620-36del (n.2620-40_2620-36del)
c.1342-40_1342-36del (n.1342-40_1342-36del)
c.2170-40_2170-36del (n.2170-40_2170-36del)
c.2146-40_2146-36del (n.2146-40_2146-36del)
n.2551-40_2551-36del
 gnomAD v4
7g.143351555_143351558delCA578626953CLCN1c.2596-39_2596-36del (n.2596-39_2596-36del)
c.2420-39_2420-36del
n.2536-39_2536-36del
c.2620-39_2620-36del (n.2620-39_2620-36del)
c.1342-39_1342-36del (n.1342-39_1342-36del)
c.2170-39_2170-36del (n.2170-39_2170-36del)
c.2146-39_2146-36del (n.2146-39_2146-36del)
n.2551-39_2551-36del
 gnomAD v2 gnomAD v3 gnomAD v4
7g.143351555C>ACA578626954CLCN1c.2596-39C>A (n.2596-39C>A)
c.2420-39C>A
n.2536-39C>A
c.2620-39C>A (n.2620-39C>A)
c.1342-39C>A (n.1342-39C>A)
c.2170-39C>A (n.2170-39C>A)
c.2146-39C>A (n.2146-39C>A)
n.2551-39C>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351555C=CA1748898224CLCN1c.2596-39C= (n.2596-39C=)
c.2420-39C=
n.2536-39C=
c.2620-39C= (n.2620-39C=)
c.1342-39C= (n.1342-39C=)
c.2170-39C= (n.2170-39C=)
c.2146-39C= (n.2146-39C=)
n.2551-39C=
7g.143351555C>TCA2685382585CLCN1c.2596-39C>T (n.2596-39C>T)
c.2420-39C>T
n.2536-39C>T
c.2620-39C>T (n.2620-39C>T)
c.1342-39C>T (n.1342-39C>T)
c.2170-39C>T (n.2170-39C>T)
c.2146-39C>T (n.2146-39C>T)
n.2551-39C>T
 gnomAD v4
7g.143351556A>TCA2778231039CLCN1c.2596-38A>T (n.2596-38A>T)
c.2420-38A>T
n.2536-38A>T
c.2620-38A>T (n.2620-38A>T)
c.1342-38A>T (n.1342-38A>T)
c.2170-38A>T (n.2170-38A>T)
c.2146-38A>T (n.2146-38A>T)
n.2551-38A>T
7g.143351557A=CA1748898225CLCN1c.2596-37A= (n.2596-37A=)
c.2420-37A=
n.2536-37A=
c.2620-37A= (n.2620-37A=)
c.1342-37A= (n.1342-37A=)
c.2170-37A= (n.2170-37A=)
c.2146-37A= (n.2146-37A=)
n.2551-37A=
7g.143351557A>CCA578626955CLCN1c.2596-37A>C (n.2596-37A>C)
c.2420-37A>C
n.2536-37A>C
c.2620-37A>C (n.2620-37A>C)
c.1342-37A>C (n.1342-37A>C)
c.2170-37A>C (n.2170-37A>C)
c.2146-37A>C (n.2146-37A>C)
n.2551-37A>C
 dbSNP gnomAD v2
7g.143351557A>GCA168231357CLCN1c.2596-37A>G (n.2596-37A>G)
c.2420-37A>G
n.2536-37A>G
c.2620-37A>G (n.2620-37A>G)
c.1342-37A>G (n.1342-37A>G)
c.2170-37A>G (n.2170-37A>G)
c.2146-37A>G (n.2146-37A>G)
n.2551-37A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351557_143351558insTTTTCA578626956CLCN1c.2596-37_2596-36insTTTT (n.2596-37_2596-36insTTTT)
c.2420-37_2420-36insTTTT
n.2536-37_2536-36insTTTT
c.2620-37_2620-36insTTTT (n.2620-37_2620-36insTTTT)
c.1342-37_1342-36insTTTT (n.1342-37_1342-36insTTTT)
c.2170-37_2170-36insTTTT (n.2170-37_2170-36insTTTT)
c.2146-37_2146-36insTTTT (n.2146-37_2146-36insTTTT)
n.2551-37_2551-36insTTTT
 gnomAD v2 gnomAD v3 gnomAD v4
7g.143351559T>GCA2685382587CLCN1c.2596-35T>G (n.2596-35T>G)
c.2420-35T>G
n.2536-35T>G
c.2620-35T>G (n.2620-35T>G)
c.1342-35T>G (n.1342-35T>G)
c.2170-35T>G (n.2170-35T>G)
c.2146-35T>G (n.2146-35T>G)
n.2551-35T>G
 gnomAD v4
7g.143351563delCA2685382586CLCN1c.2596-31del (n.2596-31del)
c.2420-31del
n.2536-31del
c.2620-31del (n.2620-31del)
c.1342-31del (n.1342-31del)
c.2170-31del (n.2170-31del)
c.2146-31del (n.2146-31del)
n.2551-31del
 gnomAD v4
7g.143351562T>GCA4537747CLCN1c.2596-32T>G (n.2596-32T>G)
c.2420-32T>G
n.2536-32T>G
c.2620-32T>G (n.2620-32T>G)
c.1342-32T>G (n.1342-32T>G)
c.2170-32T>G (n.2170-32T>G)
c.2146-32T>G (n.2146-32T>G)
n.2551-32T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351562T=CA1748898226CLCN1c.2596-32T= (n.2596-32T=)
c.2420-32T=
n.2536-32T=
c.2620-32T= (n.2620-32T=)
c.1342-32T= (n.1342-32T=)
c.2170-32T= (n.2170-32T=)
c.2146-32T= (n.2146-32T=)
n.2551-32T=
7g.143351563T>CCA2579051078CLCN1c.2596-31T>C (n.2596-31T>C)
c.2420-31T>C
n.2536-31T>C
c.2620-31T>C (n.2620-31T>C)
c.1342-31T>C (n.1342-31T>C)
c.2170-31T>C (n.2170-31T>C)
c.2146-31T>C (n.2146-31T>C)
n.2551-31T>C
 gnomAD v4
7g.143351563_143351564delinsTACA1748898227CLCN1c.2596-31_2596-30delinsTA (n.2596-31_2596-30delinsTA)
c.2420-31_2420-30delinsTA
n.2536-31_2536-30delinsTA
c.2620-31_2620-30delinsTA (n.2620-31_2620-30delinsTA)
c.1342-31_1342-30delinsTA (n.1342-31_1342-30delinsTA)
c.2170-31_2170-30delinsTA (n.2170-31_2170-30delinsTA)
c.2146-31_2146-30delinsTA (n.2146-31_2146-30delinsTA)
n.2551-31_2551-30delinsTA
7g.143351564delCA1108133592CLCN1c.2596-30del (n.2596-30del)
c.2420-30del
n.2536-30del
c.2620-30del (n.2620-30del)
c.1342-30del (n.1342-30del)
c.2170-30del (n.2170-30del)
c.2146-30del (n.2146-30del)
n.2551-30del
 dbSNP gnomAD v3 gnomAD v4
7g.143351564A>TCA2715829087CLCN1c.2596-30A>T (n.2596-30A>T)
c.2420-30A>T
n.2536-30A>T
c.2620-30A>T (n.2620-30A>T)
c.1342-30A>T (n.1342-30A>T)
c.2170-30A>T (n.2170-30A>T)
c.2146-30A>T (n.2146-30A>T)
n.2551-30A>T
 dbSNP
7g.143351565C>ACA2685382588CLCN1c.2596-29C>A (n.2596-29C>A)
c.2420-29C>A
n.2536-29C>A
c.2620-29C>A (n.2620-29C>A)
c.1342-29C>A (n.1342-29C>A)
c.2170-29C>A (n.2170-29C>A)
c.2146-29C>A (n.2146-29C>A)
n.2551-29C>A
 gnomAD v4
7g.143351565C=CA1748898228CLCN1c.2596-29C= (n.2596-29C=)
c.2420-29C=
n.2536-29C=
c.2620-29C= (n.2620-29C=)
c.1342-29C= (n.1342-29C=)
c.2170-29C= (n.2170-29C=)
c.2146-29C= (n.2146-29C=)
n.2551-29C=
7g.143351565C>TCA4537748CLCN1c.2596-29C>T (n.2596-29C>T)
c.2420-29C>T
n.2536-29C>T
c.2620-29C>T (n.2620-29C>T)
c.1342-29C>T (n.1342-29C>T)
c.2170-29C>T (n.2170-29C>T)
c.2146-29C>T (n.2146-29C>T)
n.2551-29C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351567C=CA1748898229CLCN1c.2596-27C= (n.2596-27C=)
c.2420-27C=
n.2536-27C=
c.2620-27C= (n.2620-27C=)
c.1342-27C= (n.1342-27C=)
c.2170-27C= (n.2170-27C=)
c.2146-27C= (n.2146-27C=)
n.2551-27C=
7g.143351567C>TCA4537749CLCN1c.2596-27C>T (n.2596-27C>T)
c.2420-27C>T
n.2536-27C>T
c.2620-27C>T (n.2620-27C>T)
c.1342-27C>T (n.1342-27C>T)
c.2170-27C>T (n.2170-27C>T)
c.2146-27C>T (n.2146-27C>T)
n.2551-27C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351569C=CA1748898230CLCN1c.2596-25C= (n.2596-25C=)
c.2420-25C=
n.2536-25C=
c.2620-25C= (n.2620-25C=)
c.1342-25C= (n.1342-25C=)
c.2170-25C= (n.2170-25C=)
c.2146-25C= (n.2146-25C=)
n.2551-25C=
7g.143351569C>GCA578626957CLCN1c.2596-25C>G (n.2596-25C>G)
c.2420-25C>G
n.2536-25C>G
c.2620-25C>G (n.2620-25C>G)
c.1342-25C>G (n.1342-25C>G)
c.2170-25C>G (n.2170-25C>G)
c.2146-25C>G (n.2146-25C>G)
n.2551-25C>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351569C>TCA2685382589CLCN1c.2596-25C>T (n.2596-25C>T)
c.2420-25C>T
n.2536-25C>T
c.2620-25C>T (n.2620-25C>T)
c.1342-25C>T (n.1342-25C>T)
c.2170-25C>T (n.2170-25C>T)
c.2146-25C>T (n.2146-25C>T)
n.2551-25C>T
 gnomAD v4
7g.143351570T>GCA834501749CLCN1c.2596-24T>G (n.2596-24T>G)
c.2420-24T>G
n.2536-24T>G
c.2620-24T>G (n.2620-24T>G)
c.1342-24T>G (n.1342-24T>G)
c.2170-24T>G (n.2170-24T>G)
c.2146-24T>G (n.2146-24T>G)
n.2551-24T>G
 dbSNP gnomAD v3 gnomAD v4
7g.143351570T=CA1748898231CLCN1c.2596-24T= (n.2596-24T=)
c.2420-24T=
n.2536-24T=
c.2620-24T= (n.2620-24T=)
c.1342-24T= (n.1342-24T=)
c.2170-24T= (n.2170-24T=)
c.2146-24T= (n.2146-24T=)
n.2551-24T=
7g.143351572T>ACA168231370CLCN1c.2596-22T>A (n.2596-22T>A)
c.2420-22T>A
n.2536-22T>A
c.2620-22T>A (n.2620-22T>A)
c.1342-22T>A (n.1342-22T>A)
c.2170-22T>A (n.2170-22T>A)
c.2146-22T>A (n.2146-22T>A)
n.2551-22T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351572T>CCA2685382590CLCN1c.2596-22T>C (n.2596-22T>C)
c.2420-22T>C
n.2536-22T>C
c.2620-22T>C (n.2620-22T>C)
c.1342-22T>C (n.1342-22T>C)
c.2170-22T>C (n.2170-22T>C)
c.2146-22T>C (n.2146-22T>C)
n.2551-22T>C
 gnomAD v4
7g.143351572T=CA1748898232CLCN1c.2596-22T= (n.2596-22T=)
c.2420-22T=
n.2536-22T=
c.2620-22T= (n.2620-22T=)
c.1342-22T= (n.1342-22T=)
c.2170-22T= (n.2170-22T=)
c.2146-22T= (n.2146-22T=)
n.2551-22T=
7g.143351574C>GCA2685382591CLCN1c.2596-20C>G (n.2596-20C>G)
c.2420-20C>G
n.2536-20C>G
c.2620-20C>G (n.2620-20C>G)
c.1342-20C>G (n.1342-20C>G)
c.2170-20C>G (n.2170-20C>G)
c.2146-20C>G (n.2146-20C>G)
n.2551-20C>G
 gnomAD v4
7g.143351575C>TCA2523139416CLCN1c.2596-19C>T (n.2596-19C>T)
c.2420-19C>T
n.2536-19C>T
c.2620-19C>T (n.2620-19C>T)
c.1342-19C>T (n.1342-19C>T)
c.2170-19C>T (n.2170-19C>T)
c.2146-19C>T (n.2146-19C>T)
n.2551-19C>T
7g.143351576T>CCA2685382592CLCN1c.2596-18T>C (n.2596-18T>C)
c.2420-18T>C
n.2536-18T>C
c.2620-18T>C (n.2620-18T>C)
c.1342-18T>C (n.1342-18T>C)
c.2170-18T>C (n.2170-18T>C)
c.2146-18T>C (n.2146-18T>C)
n.2551-18T>C
 gnomAD v4
7g.143351576T>GCA2685382593CLCN1c.2596-18T>G (n.2596-18T>G)
c.2420-18T>G
n.2536-18T>G
c.2620-18T>G (n.2620-18T>G)
c.1342-18T>G (n.1342-18T>G)
c.2170-18T>G (n.2170-18T>G)
c.2146-18T>G (n.2146-18T>G)
n.2551-18T>G
 gnomAD v4
7g.143351578T>ACA578626958CLCN1c.2596-16T>A (n.2596-16T>A)
c.2420-16T>A
n.2536-16T>A
c.2620-16T>A (n.2620-16T>A)
c.1342-16T>A (n.1342-16T>A)
c.2170-16T>A (n.2170-16T>A)
c.2146-16T>A (n.2146-16T>A)
n.2551-16T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351578T=CA1748898233CLCN1c.2596-16T= (n.2596-16T=)
c.2420-16T=
n.2536-16T=
c.2620-16T= (n.2620-16T=)
c.1342-16T= (n.1342-16T=)
c.2170-16T= (n.2170-16T=)
c.2146-16T= (n.2146-16T=)
n.2551-16T=
7g.143351582A>CCA1108133596CLCN1c.2596-12A>C (n.2596-12A>C)
c.2420-12A>C
n.2536-12A>C
c.2620-12A>C (n.2620-12A>C)
c.1342-12A>C (n.1342-12A>C)
c.2170-12A>C (n.2170-12A>C)
c.2146-12A>C (n.2146-12A>C)
n.2551-12A>C
 gnomAD v3 gnomAD v4
7g.143351583C>GCA2573141808CLCN1c.2596-11C>G (n.2596-11C>G)
c.2420-11C>G
n.2536-11C>G
c.2620-11C>G (n.2620-11C>G)
c.1342-11C>G (n.1342-11C>G)
c.2170-11C>G (n.2170-11C>G)
c.2146-11C>G (n.2146-11C>G)
n.2551-11C>G
 ClinVar dbSNP gnomAD v4
7g.143351583_143351584delinsCTCA1748898234CLCN1c.2596-11_2596-10delinsCT (n.2596-11_2596-10delinsCT)
c.2420-11_2420-10delinsCT
n.2536-11_2536-10delinsCT
c.2620-11_2620-10delinsCT (n.2620-11_2620-10delinsCT)
c.1342-11_1342-10delinsCT (n.1342-11_1342-10delinsCT)
c.2170-11_2170-10delinsCT (n.2170-11_2170-10delinsCT)
c.2146-11_2146-10delinsCT (n.2146-11_2146-10delinsCT)
n.2551-11_2551-10delinsCT
7g.143351584delCA578626959CLCN1c.2596-10del (n.2596-10del)
c.2420-10del
n.2536-10del
c.2620-10del (n.2620-10del)
c.1342-10del (n.1342-10del)
c.2170-10del (n.2170-10del)
c.2146-10del (n.2146-10del)
n.2551-10del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351585G>ACA2685382594CLCN1c.2596-9G>A (n.2596-9G>A)
c.2420-9G>A
n.2536-9G>A
c.2620-9G>A (n.2620-9G>A)
c.1342-9G>A (n.1342-9G>A)
c.2170-9G>A (n.2170-9G>A)
c.2146-9G>A (n.2146-9G>A)
n.2551-9G>A
 gnomAD v4
7g.143351585G>CCA578626960CLCN1c.2596-9G>C (n.2596-9G>C)
c.2420-9G>C
n.2536-9G>C
c.2620-9G>C (n.2620-9G>C)
c.1342-9G>C (n.1342-9G>C)
c.2170-9G>C (n.2170-9G>C)
c.2146-9G>C (n.2146-9G>C)
n.2551-9G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351585G=CA1748898235CLCN1c.2596-9G= (n.2596-9G=)
c.2420-9G=
n.2536-9G=
c.2620-9G= (n.2620-9G=)
c.1342-9G= (n.1342-9G=)
c.2170-9G= (n.2170-9G=)
c.2146-9G= (n.2146-9G=)
n.2551-9G=
7g.143351585G>TCA4537750CLCN1c.2596-9G>T (n.2596-9G>T)
c.2420-9G>T
n.2536-9G>T
c.2620-9G>T (n.2620-9G>T)
c.1342-9G>T (n.1342-9G>T)
c.2170-9G>T (n.2170-9G>T)
c.2146-9G>T (n.2146-9G>T)
n.2551-9G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351586C=CA1748898236CLCN1c.2596-8C= (n.2596-8C=)
c.2420-8C=
n.2536-8C=
c.2620-8C= (n.2620-8C=)
c.1342-8C= (n.1342-8C=)
c.2170-8C= (n.2170-8C=)
c.2146-8C= (n.2146-8C=)
n.2551-8C=
7g.143351586C>TCA834501760CLCN1c.2596-8C>T (n.2596-8C>T)
c.2420-8C>T
n.2536-8C>T
c.2620-8C>T (n.2620-8C>T)
c.1342-8C>T (n.1342-8C>T)
c.2170-8C>T (n.2170-8C>T)
c.2146-8C>T (n.2146-8C>T)
n.2551-8C>T
 ClinVar dbSNP gnomAD v4
7g.143351587T>CCA2573141809CLCN1c.2596-7T>C (n.2596-7T>C)
c.2420-7T>C
n.2536-7T>C
c.2620-7T>C (n.2620-7T>C)
c.1342-7T>C (n.1342-7T>C)
c.2170-7T>C (n.2170-7T>C)
c.2146-7T>C (n.2146-7T>C)
n.2551-7T>C
 ClinVar dbSNP
7g.143351590T>GCA2573141810CLCN1c.2596-4T>G (n.2596-4T>G)
c.2420-4T>G
n.2536-4T>G
c.2620-4T>G (n.2620-4T>G)
c.1342-4T>G (n.1342-4T>G)
c.2170-4T>G (n.2170-4T>G)
c.2146-4T>G (n.2146-4T>G)
n.2551-4T>G
 ClinVar dbSNP
7g.143351592A>CCA369653418CLCN1c.2596-2A>C (n.2596-2A>C)
c.2420-2A>C
n.2536-2A>C
c.2620-2A>C (n.2620-2A>C)
c.1342-2A>C (n.1342-2A>C)
c.2170-2A>C (n.2170-2A>C)
c.2146-2A>C (n.2146-2A>C)
n.2551-2A>C
7g.143351592A>GCA369653417CLCN1c.2596-2A>G (n.2596-2A>G)
c.2420-2A>G
n.2536-2A>G
c.2620-2A>G (n.2620-2A>G)
c.1342-2A>G (n.1342-2A>G)
c.2170-2A>G (n.2170-2A>G)
c.2146-2A>G (n.2146-2A>G)
n.2551-2A>G
7g.143351592A>TCA369653419CLCN1c.2596-2A>T (n.2596-2A>T)
c.2420-2A>T
n.2536-2A>T
c.2620-2A>T (n.2620-2A>T)
c.1342-2A>T (n.1342-2A>T)
c.2170-2A>T (n.2170-2A>T)
c.2146-2A>T (n.2146-2A>T)
n.2551-2A>T
7g.143351593G>ACA4537751CLCN1c.2596-1G>A (n.2596-1G>A)
c.2420-1G>A
n.2536-1G>A
c.2620-1G>A (n.2620-1G>A)
c.1342-1G>A (n.1342-1G>A)
c.2170-1G>A (n.2170-1G>A)
c.2146-1G>A (n.2146-1G>A)
n.2551-1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351593G>CCA369653420CLCN1c.2596-1G>C (n.2596-1G>C)
c.2420-1G>C
n.2536-1G>C
c.2620-1G>C (n.2620-1G>C)
c.1342-1G>C (n.1342-1G>C)
c.2170-1G>C (n.2170-1G>C)
c.2146-1G>C (n.2146-1G>C)
n.2551-1G>C
7g.143351593G=CA1748898237CLCN1c.2596-1G= (n.2596-1G=)
c.2420-1G=
n.2536-1G=
c.2620-1G= (n.2620-1G=)
c.1342-1G= (n.1342-1G=)
c.2170-1G= (n.2170-1G=)
c.2146-1G= (n.2146-1G=)
n.2551-1G=
7g.143351593G>TCA369653421CLCN1c.2596-1G>T (n.2596-1G>T)
c.2420-1G>T
n.2536-1G>T
c.2620-1G>T (n.2620-1G>T)
c.1342-1G>T (n.1342-1G>T)
c.2170-1G>T (n.2170-1G>T)
c.2146-1G>T (n.2146-1G>T)
n.2551-1G>T
7g.143351594C>ACA369653422CLCN1c.2596C>A (p.Leu866Ile)
c.2420C>A
n.2536C>A
c.2620C>A (p.Leu874Ile)
c.1342C>A (p.Leu448Ile)
c.2170C>A (p.Leu724Ile)
c.2146C>A (p.Leu716Ile)
n.2551C>A
7g.143351594C>GCA369653423CLCN1c.2596C>G (p.Leu866Val)
c.2420C>G
n.2536C>G
c.2620C>G (p.Leu874Val)
c.1342C>G (p.Leu448Val)
c.2170C>G (p.Leu724Val)
c.2146C>G (p.Leu716Val)
n.2551C>G
7g.143351594C>TCA458542292CLCN1c.2596C>T (p.Leu866=)
c.2420C>T
n.2536C>T
c.2620C>T (p.Leu874=)
c.1342C>T (p.Leu448=)
c.2170C>T (p.Leu724=)
c.2146C>T (p.Leu716=)
n.2551C>T
7g.143351595T>ACA369653424CLCN1c.2597T>A (p.Leu866Gln)
c.2421T>A
n.2537T>A
c.2621T>A (p.Leu874Gln)
c.1343T>A (p.Leu448Gln)
c.2171T>A (p.Leu724Gln)
c.2147T>A (p.Leu716Gln)
n.2552T>A
7g.143351595T>CCA369653425CLCN1c.2597T>C (p.Leu866Pro)
c.2421T>C
n.2537T>C
c.2621T>C (p.Leu874Pro)
c.1343T>C (p.Leu448Pro)
c.2171T>C (p.Leu724Pro)
c.2147T>C (p.Leu716Pro)
n.2552T>C
7g.143351595T>GCA369653426CLCN1c.2597T>G (p.Leu866Arg)
c.2421T>G
n.2537T>G
c.2621T>G (p.Leu874Arg)
c.1343T>G (p.Leu448Arg)
c.2171T>G (p.Leu724Arg)
c.2147T>G (p.Leu716Arg)
n.2552T>G
7g.143351596A>CCA458542293CLCN1c.2598A>C (p.Leu866=)
c.2422A>C
n.2538A>C
c.2622A>C (p.Leu874=)
c.1344A>C (p.Leu448=)
c.2172A>C (p.Leu724=)
c.2148A>C (p.Leu716=)
n.2553A>C
7g.143351596A>GCA458542294CLCN1c.2598A>G (p.Leu866=)
c.2422A>G
n.2538A>G
c.2622A>G (p.Leu874=)
c.1344A>G (p.Leu448=)
c.2172A>G (p.Leu724=)
c.2148A>G (p.Leu716=)
n.2553A>G
7g.143351596A>TCA458542295CLCN1c.2598A>T (p.Leu866=)
c.2422A>T
n.2538A>T
c.2622A>T (p.Leu874=)
c.1344A>T (p.Leu448=)
c.2172A>T (p.Leu724=)
c.2148A>T (p.Leu716=)
n.2553A>T
7g.143351597C>ACA369653427CLCN1c.2599C>A (p.Gln867Lys)
c.2423C>A
n.2539C>A
c.2623C>A (p.Gln875Lys)
c.1345C>A (p.Gln449Lys)
c.2173C>A (p.Gln725Lys)
c.2149C>A (p.Gln717Lys)
n.2554C>A
7g.143351597C>GCA369653428CLCN1c.2599C>G (p.Gln867Glu)
c.2423C>G
n.2539C>G
c.2623C>G (p.Gln875Glu)
c.1345C>G (p.Gln449Glu)
c.2173C>G (p.Gln725Glu)
c.2149C>G (p.Gln717Glu)
n.2554C>G
7g.143351597C>TCA369653429CLCN1c.2599C>T (p.Gln867Ter)
c.2423C>T
n.2539C>T
c.2623C>T (p.Gln875Ter)
c.1345C>T (p.Gln449Ter)
c.2173C>T (p.Gln725Ter)
c.2149C>T (p.Gln717Ter)
n.2554C>T
7g.143351598A>CCA369653432CLCN1c.2600A>C (p.Gln867Pro)
c.2424A>C
n.2540A>C
c.2624A>C (p.Gln875Pro)
c.1346A>C (p.Gln449Pro)
c.2174A>C (p.Gln725Pro)
c.2150A>C (p.Gln717Pro)
n.2555A>C
7g.143351598A>GCA369653430CLCN1c.2600A>G (p.Gln867Arg)
c.2424A>G
n.2540A>G
c.2624A>G (p.Gln875Arg)
c.1346A>G (p.Gln449Arg)
c.2174A>G (p.Gln725Arg)
c.2150A>G (p.Gln717Arg)
n.2555A>G
7g.143351598A>TCA369653431CLCN1c.2600A>T (p.Gln867Leu)
c.2424A>T
n.2540A>T
c.2624A>T (p.Gln875Leu)
c.1346A>T (p.Gln449Leu)
c.2174A>T (p.Gln725Leu)
c.2150A>T (p.Gln717Leu)
n.2555A>T
7g.143351599G>ACA458542296CLCN1c.2601G>A (p.Gln867=)
c.2425G>A
n.2541G>A
c.2625G>A (p.Gln875=)
c.1347G>A (p.Gln449=)
c.2175G>A (p.Gln725=)
c.2151G>A (p.Gln717=)
n.2556G>A
7g.143351599G>CCA369653433CLCN1c.2601G>C (p.Gln867His)
c.2425G>C
n.2541G>C
c.2625G>C (p.Gln875His)
c.1347G>C (p.Gln449His)
c.2175G>C (p.Gln725His)
c.2151G>C (p.Gln717His)
n.2556G>C
7g.143351599G>TCA369653434CLCN1c.2601G>T (p.Gln867His)
c.2425G>T
n.2541G>T
c.2625G>T (p.Gln875His)
c.1347G>T (p.Gln449His)
c.2175G>T (p.Gln725His)
c.2151G>T (p.Gln717His)
n.2556G>T
7g.143351600A>CCA369653435CLCN1c.2602A>C (p.Lys868Gln)
c.2426A>C
n.2542A>C
c.2626A>C (p.Lys876Gln)
c.1348A>C (p.Lys450Gln)
c.2176A>C (p.Lys726Gln)
c.2152A>C (p.Lys718Gln)
n.2557A>C
7g.143351600A>GCA369653436CLCN1c.2602A>G (p.Lys868Glu)
c.2426A>G
n.2542A>G
c.2626A>G (p.Lys876Glu)
c.1348A>G (p.Lys450Glu)
c.2176A>G (p.Lys726Glu)
c.2152A>G (p.Lys718Glu)
n.2557A>G
7g.143351600A>TCA369653437CLCN1c.2602A>T (p.Lys868Ter)
c.2426A>T
n.2542A>T
c.2626A>T (p.Lys876Ter)
c.1348A>T (p.Lys450Ter)
c.2176A>T (p.Lys726Ter)
c.2152A>T (p.Lys718Ter)
n.2557A>T
7g.143351601A>CCA369653438CLCN1c.2603A>C (p.Lys868Thr)
c.2427A>C
n.2543A>C
c.2627A>C (p.Lys876Thr)
c.1349A>C (p.Lys450Thr)
c.2177A>C (p.Lys726Thr)
c.2153A>C (p.Lys718Thr)
n.2558A>C
7g.143351601A>GCA369653439CLCN1c.2603A>G (p.Lys868Arg)
c.2427A>G
n.2543A>G
c.2627A>G (p.Lys876Arg)
c.1349A>G (p.Lys450Arg)
c.2177A>G (p.Lys726Arg)
c.2153A>G (p.Lys718Arg)
n.2558A>G
7g.143351601A>TCA369653440CLCN1c.2603A>T (p.Lys868Met)
c.2427A>T
n.2543A>T
c.2627A>T (p.Lys876Met)
c.1349A>T (p.Lys450Met)
c.2177A>T (p.Lys726Met)
c.2153A>T (p.Lys718Met)
n.2558A>T
7g.143351602G>ACA4537752CLCN1c.2604G>A (p.Lys868=)
c.2428G>A
n.2544G>A
c.2628G>A (p.Lys876=)
c.1350G>A (p.Lys450=)
c.2178G>A (p.Lys726=)
c.2154G>A (p.Lys718=)
n.2559G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351602G>CCA369653441CLCN1c.2604G>C (p.Lys868Asn)
c.2428G>C
n.2544G>C
c.2628G>C (p.Lys876Asn)
c.1350G>C (p.Lys450Asn)
c.2178G>C (p.Lys726Asn)
c.2154G>C (p.Lys718Asn)
n.2559G>C
7g.143351602G=CA1748898238CLCN1c.2604G= (p.Lys868=)
c.2428G=
n.2544G=
c.2628G= (p.Lys876=)
c.1350G= (p.Lys450=)
c.2178G= (p.Lys726=)
c.2154G= (p.Lys718=)
n.2559G=
7g.143351602G>TCA369653442CLCN1c.2604G>T (p.Lys868Asn)
c.2428G>T
n.2544G>T
c.2628G>T (p.Lys876Asn)
c.1350G>T (p.Lys450Asn)
c.2178G>T (p.Lys726Asn)
c.2154G>T (p.Lys718Asn)
n.2559G>T
7g.143351603G>ACA4537753CLCN1c.2605G>A (p.Ala869Thr)
c.2429G>A
n.2545G>A
c.2629G>A (p.Ala877Thr)
c.1351G>A (p.Ala451Thr)
c.2179G>A (p.Ala727Thr)
c.2155G>A (p.Ala719Thr)
n.2560G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351603G>CCA369653444CLCN1c.2605G>C (p.Ala869Pro)
c.2429G>C
n.2545G>C
c.2629G>C (p.Ala877Pro)
c.1351G>C (p.Ala451Pro)
c.2179G>C (p.Ala727Pro)
c.2155G>C (p.Ala719Pro)
n.2560G>C
7g.143351603G=CA1748898239CLCN1c.2605G= (p.Ala869=)
c.2429G=
n.2545G=
c.2629G= (p.Ala877=)
c.1351G= (p.Ala451=)
c.2179G= (p.Ala727=)
c.2155G= (p.Ala719=)
n.2560G=
7g.143351603G>TCA369653443CLCN1c.2605G>T (p.Ala869Ser)
c.2429G>T
n.2545G>T
c.2629G>T (p.Ala877Ser)
c.1351G>T (p.Ala451Ser)
c.2179G>T (p.Ala727Ser)
c.2155G>T (p.Ala719Ser)
n.2560G>T
7g.143351604C>ACA369653445CLCN1c.2606C>A (p.Ala869Asp)
c.2430C>A
n.2546C>A
c.2630C>A (p.Ala877Asp)
c.1352C>A (p.Ala451Asp)
c.2180C>A (p.Ala727Asp)
c.2156C>A (p.Ala719Asp)
n.2561C>A
7g.143351604C>GCA369653446CLCN1c.2606C>G (p.Ala869Gly)
c.2430C>G
n.2546C>G
c.2630C>G (p.Ala877Gly)
c.1352C>G (p.Ala451Gly)
c.2180C>G (p.Ala727Gly)
c.2156C>G (p.Ala719Gly)
n.2561C>G
7g.143351604C>TCA369653447CLCN1c.2606C>T (p.Ala869Val)
c.2430C>T
n.2546C>T
c.2630C>T (p.Ala877Val)
c.1352C>T (p.Ala451Val)
c.2180C>T (p.Ala727Val)
c.2156C>T (p.Ala719Val)
n.2561C>T
7g.143351605C>ACA458542297CLCN1c.2607C>A (p.Ala869=)
c.2431C>A
n.2547C>A
c.2631C>A (p.Ala877=)
c.1353C>A (p.Ala451=)
c.2181C>A (p.Ala727=)
c.2157C>A (p.Ala719=)
n.2562C>A
7g.143351605C>GCA458542298CLCN1c.2607C>G (p.Ala869=)
c.2431C>G
n.2547C>G
c.2631C>G (p.Ala877=)
c.1353C>G (p.Ala451=)
c.2181C>G (p.Ala727=)
c.2157C>G (p.Ala719=)
n.2562C>G
7g.143351605C>TCA458542299CLCN1c.2607C>T (p.Ala869=)
c.2431C>T
n.2547C>T
c.2631C>T (p.Ala877=)
c.1353C>T (p.Ala451=)
c.2181C>T (p.Ala727=)
c.2157C>T (p.Ala719=)
n.2562C>T
 ClinVar dbSNP
7g.143351606A=CA1748898240CLCN1c.2608A= (p.Ile870=)
c.2432A=
n.2548A=
c.2632A= (p.Ile878=)
c.1354A= (p.Ile452=)
c.2182A= (p.Ile728=)
c.2158A= (p.Ile720=)
n.2563A=
7g.143351606A>CCA369653448CLCN1c.2608A>C (p.Ile870Leu)
c.2432A>C
n.2548A>C
c.2632A>C (p.Ile878Leu)
c.1354A>C (p.Ile452Leu)
c.2182A>C (p.Ile728Leu)
c.2158A>C (p.Ile720Leu)
n.2563A>C
7g.143351606A>GCA369653449CLCN1c.2608A>G (p.Ile870Val)
c.2432A>G
n.2548A>G
c.2632A>G (p.Ile878Val)
c.1354A>G (p.Ile452Val)
c.2182A>G (p.Ile728Val)
c.2158A>G (p.Ile720Val)
n.2563A>G
 dbSNP gnomAD v2 gnomAD v4
7g.143351606A>TCA369653450CLCN1c.2608A>T (p.Ile870Phe)
c.2432A>T
n.2548A>T
c.2632A>T (p.Ile878Phe)
c.1354A>T (p.Ile452Phe)
c.2182A>T (p.Ile728Phe)
c.2158A>T (p.Ile720Phe)
n.2563A>T
7g.143351607T>ACA369653451CLCN1c.2609T>A (p.Ile870Asn)
c.2433T>A
n.2549T>A
c.2633T>A (p.Ile878Asn)
c.1355T>A (p.Ile452Asn)
c.2183T>A (p.Ile728Asn)
c.2159T>A (p.Ile720Asn)
n.2564T>A
7g.143351607T>CCA369653453CLCN1c.2609T>C (p.Ile870Thr)
c.2433T>C
n.2549T>C
c.2633T>C (p.Ile878Thr)
c.1355T>C (p.Ile452Thr)
c.2183T>C (p.Ile728Thr)
c.2159T>C (p.Ile720Thr)
n.2564T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.143351607T>GCA369653452CLCN1c.2609T>G (p.Ile870Ser)
c.2433T>G
n.2549T>G
c.2633T>G (p.Ile878Ser)
c.1355T>G (p.Ile452Ser)
c.2183T>G (p.Ile728Ser)
c.2159T>G (p.Ile720Ser)
n.2564T>G
7g.143351607T=CA1748898241CLCN1c.2609T= (p.Ile870=)
c.2433T=
n.2549T=
c.2633T= (p.Ile878=)
c.1355T= (p.Ile452=)
c.2183T= (p.Ile728=)
c.2159T= (p.Ile720=)
n.2564T=
7g.143351608T>ACA458542300CLCN1c.2610T>A (p.Ile870=)
c.2434T>A
n.2550T>A
c.2634T>A (p.Ile878=)
c.1356T>A (p.Ile452=)
c.2184T>A (p.Ile728=)
c.2160T>A (p.Ile720=)
n.2565T>A
 ClinVar dbSNP gnomAD v4
7g.143351608T>CCA458542301CLCN1c.2610T>C (p.Ile870=)
c.2434T>C
n.2550T>C
c.2634T>C (p.Ile878=)
c.1356T>C (p.Ile452=)
c.2184T>C (p.Ile728=)
c.2160T>C (p.Ile720=)
n.2565T>C
 ClinVar
7g.143351608T>GCA369653454CLCN1c.2610T>G (p.Ile870Met)
c.2434T>G
n.2550T>G
c.2634T>G (p.Ile878Met)
c.1356T>G (p.Ile452Met)
c.2184T>G (p.Ile728Met)
c.2160T>G (p.Ile720Met)
n.2565T>G
7g.143351608T=CA1748898242CLCN1c.2610T= (p.Ile870=)
c.2434T=
n.2550T=
c.2634T= (p.Ile878=)
c.1356T= (p.Ile452=)
c.2184T= (p.Ile728=)
c.2160T= (p.Ile720=)
n.2565T=
7g.143351609G>ACA4537754CLCN1c.2611G>A (p.Glu871Lys)
c.2435G>A
n.2551G>A
c.2635G>A (p.Glu879Lys)
c.1357G>A (p.Glu453Lys)
c.2185G>A (p.Glu729Lys)
c.2161G>A (p.Glu721Lys)
n.2566G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351609G>CCA369653455CLCN1c.2611G>C (p.Glu871Gln)
c.2435G>C
n.2551G>C
c.2635G>C (p.Glu879Gln)
c.1357G>C (p.Glu453Gln)
c.2185G>C (p.Glu729Gln)
c.2161G>C (p.Glu721Gln)
n.2566G>C
7g.143351609G=CA1748898243CLCN1c.2611G= (p.Glu871=)
c.2435G=
n.2551G=
c.2635G= (p.Glu879=)
c.1357G= (p.Glu453=)
c.2185G= (p.Glu729=)
c.2161G= (p.Glu721=)
n.2566G=
7g.143351609G>TCA369653456CLCN1c.2611G>T (p.Glu871Ter)
c.2435G>T
n.2551G>T
c.2635G>T (p.Glu879Ter)
c.1357G>T (p.Glu453Ter)
c.2185G>T (p.Glu729Ter)
c.2161G>T (p.Glu721Ter)
n.2566G>T
7g.143351610delCA2740094941CLCN1c.2612del (p.Glu871GlyfsTer?)
c.2436del
n.2552del
c.2636del (p.Glu879GlyfsTer?)
c.1358del (p.Glu453GlyfsTer?)
c.2186del (p.Glu729GlyfsTer?)
c.2162del (p.Glu721GlyfsTer?)
n.2567del
 ClinVar
7g.143351610A>CCA369653457CLCN1c.2612A>C (p.Glu871Ala)
c.2436A>C
n.2552A>C
c.2636A>C (p.Glu879Ala)
c.1358A>C (p.Glu453Ala)
c.2186A>C (p.Glu729Ala)
c.2162A>C (p.Glu721Ala)
n.2567A>C
7g.143351610A>GCA369653459CLCN1c.2612A>G (p.Glu871Gly)
c.2436A>G
n.2552A>G
c.2636A>G (p.Glu879Gly)
c.1358A>G (p.Glu453Gly)
c.2186A>G (p.Glu729Gly)
c.2162A>G (p.Glu721Gly)
n.2567A>G
7g.143351610A>TCA369653458CLCN1c.2612A>T (p.Glu871Val)
c.2436A>T
n.2552A>T
c.2636A>T (p.Glu879Val)
c.1358A>T (p.Glu453Val)
c.2186A>T (p.Glu729Val)
c.2162A>T (p.Glu721Val)
n.2567A>T
7g.143351611G>ACA458542302CLCN1c.2613G>A (p.Glu871=)
c.2437G>A
n.2553G>A
c.2637G>A (p.Glu879=)
c.1359G>A (p.Glu453=)
c.2187G>A (p.Glu729=)
c.2163G>A (p.Glu721=)
n.2568G>A
 dbSNP gnomAD v2 gnomAD v4
7g.143351611G>CCA369653460CLCN1c.2613G>C (p.Glu871Asp)
c.2437G>C
n.2553G>C
c.2637G>C (p.Glu879Asp)
c.1359G>C (p.Glu453Asp)
c.2187G>C (p.Glu729Asp)
c.2163G>C (p.Glu721Asp)
n.2568G>C
 gnomAD v4
7g.143351611G=CA1748898244CLCN1c.2613G= (p.Glu871=)
c.2437G=
n.2553G=
c.2637G= (p.Glu879=)
c.1359G= (p.Glu453=)
c.2187G= (p.Glu729=)
c.2163G= (p.Glu721=)
n.2568G=
7g.143351611G>TCA369653461CLCN1c.2613G>T (p.Glu871Asp)
c.2437G>T
n.2553G>T
c.2637G>T (p.Glu879Asp)
c.1359G>T (p.Glu453Asp)
c.2187G>T (p.Glu729Asp)
c.2163G>T (p.Glu721Asp)
n.2568G>T
7g.143351612G>ACA369653462CLCN1c.2614G>A (p.Gly872Arg)
c.2438G>A
n.2554G>A
c.2638G>A (p.Gly880Arg)
c.1360G>A (p.Gly454Arg)
c.2188G>A (p.Gly730Arg)
c.2164G>A (p.Gly722Arg)
n.2569G>A
7g.143351612G>CCA369653463CLCN1c.2614G>C (p.Gly872Arg)
c.2438G>C
n.2554G>C
c.2638G>C (p.Gly880Arg)
c.1360G>C (p.Gly454Arg)
c.2188G>C (p.Gly730Arg)
c.2164G>C (p.Gly722Arg)
n.2569G>C
7g.143351612G>TCA369653464CLCN1c.2614G>T (p.Gly872Trp)
c.2438G>T
n.2554G>T
c.2638G>T (p.Gly880Trp)
c.1360G>T (p.Gly454Trp)
c.2188G>T (p.Gly730Trp)
c.2164G>T (p.Gly722Trp)
n.2569G>T
7g.143351613G>ACA369653465CLCN1c.2615G>A (p.Gly872Glu)
c.2439G>A
n.2555G>A
c.2639G>A (p.Gly880Glu)
c.1361G>A (p.Gly454Glu)
c.2189G>A (p.Gly730Glu)
c.2165G>A (p.Gly722Glu)
n.2570G>A
 ClinVar dbSNP gnomAD v4 COSMIC
7g.143351613G>CCA369653466CLCN1c.2615G>C (p.Gly872Ala)
c.2439G>C
n.2555G>C
c.2639G>C (p.Gly880Ala)
c.1361G>C (p.Gly454Ala)
c.2189G>C (p.Gly730Ala)
c.2165G>C (p.Gly722Ala)
n.2570G>C
7g.143351613G=CA1748898245CLCN1c.2615G= (p.Gly872=)
c.2439G=
n.2555G=
c.2639G= (p.Gly880=)
c.1361G= (p.Gly454=)
c.2189G= (p.Gly730=)
c.2165G= (p.Gly722=)
n.2570G=
7g.143351613G>TCA369653467CLCN1c.2615G>T (p.Gly872Val)
c.2439G>T
n.2555G>T
c.2639G>T (p.Gly880Val)
c.1361G>T (p.Gly454Val)
c.2189G>T (p.Gly730Val)
c.2165G>T (p.Gly722Val)
n.2570G>T
7g.143351614G>ACA168231401CLCN1c.2616G>A (p.Gly872=)
c.2440G>A
n.2556G>A
c.2640G>A (p.Gly880=)
c.1362G>A (p.Gly454=)
c.2190G>A (p.Gly730=)
c.2166G>A (p.Gly722=)
n.2571G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.143351614G>CCA458542303CLCN1c.2616G>C (p.Gly872=)
c.2440G>C
n.2556G>C
c.2640G>C (p.Gly880=)
c.1362G>C (p.Gly454=)
c.2190G>C (p.Gly730=)
c.2166G>C (p.Gly722=)
n.2571G>C
 gnomAD v4
7g.143351614G=CA1748898246CLCN1c.2616G= (p.Gly872=)
c.2440G=
n.2556G=
c.2640G= (p.Gly880=)
c.1362G= (p.Gly454=)
c.2190G= (p.Gly730=)
c.2166G= (p.Gly722=)
n.2571G=
7g.143351614G>TCA458542304CLCN1c.2616G>T (p.Gly872=)
c.2440G>T
n.2556G>T
c.2640G>T (p.Gly880=)
c.1362G>T (p.Gly454=)
c.2190G>T (p.Gly730=)
c.2166G>T (p.Gly722=)
n.2571G>T
7g.143351615C>ACA369653468CLCN1c.2617C>A (p.His873Asn)
c.2441C>A
n.2557C>A
c.2641C>A (p.His881Asn)
c.1363C>A (p.His455Asn)
c.2191C>A (p.His731Asn)
c.2167C>A (p.His723Asn)
n.2572C>A
7g.143351615C>GCA369653469CLCN1c.2617C>G (p.His873Asp)
c.2441C>G
n.2557C>G
c.2641C>G (p.His881Asp)
c.1363C>G (p.His455Asp)
c.2191C>G (p.His731Asp)
c.2167C>G (p.His723Asp)
n.2572C>G
7g.143351615C>TCA369653470CLCN1c.2617C>T (p.His873Tyr)
c.2441C>T
n.2557C>T
c.2641C>T (p.His881Tyr)
c.1363C>T (p.His455Tyr)
c.2191C>T (p.His731Tyr)
c.2167C>T (p.His723Tyr)
n.2572C>T
 ClinVar dbSNP gnomAD v4 COSMIC
7g.143351616A>CCA369653473CLCN1c.2618A>C (p.His873Pro)
c.2442A>C
n.2558A>C
c.2642A>C (p.His881Pro)
c.1364A>C (p.His455Pro)
c.2192A>C (p.His731Pro)
c.2168A>C (p.His723Pro)
n.2573A>C
7g.143351616A>GCA369653472CLCN1c.2618A>G (p.His873Arg)
c.2442A>G
n.2558A>G
c.2642A>G (p.His881Arg)
c.1364A>G (p.His455Arg)
c.2192A>G (p.His731Arg)
c.2168A>G (p.His723Arg)
n.2573A>G
7g.143351616A>TCA369653471CLCN1c.2618A>T (p.His873Leu)
c.2442A>T
n.2558A>T
c.2642A>T (p.His881Leu)
c.1364A>T (p.His455Leu)
c.2192A>T (p.His731Leu)
c.2168A>T (p.His723Leu)
n.2573A>T
7g.143351617C>ACA369653474CLCN1c.2619C>A (p.His873Gln)
c.2443C>A
n.2559C>A
c.2643C>A (p.His881Gln)
c.1365C>A (p.His455Gln)
c.2193C>A (p.His731Gln)
c.2169C>A (p.His723Gln)
n.2574C>A
7g.143351617C>GCA369653475CLCN1c.2619C>G (p.His873Gln)
c.2443C>G
n.2559C>G
c.2643C>G (p.His881Gln)
c.1365C>G (p.His455Gln)
c.2193C>G (p.His731Gln)
c.2169C>G (p.His723Gln)
n.2574C>G
7g.143351617C>TCA458542305CLCN1c.2619C>T (p.His873=)
c.2443C>T
n.2559C>T
c.2643C>T (p.His881=)
c.1365C>T (p.His455=)
c.2193C>T (p.His731=)
c.2169C>T (p.His723=)
n.2574C>T
7g.143351618A>CCA369653476CLCN1c.2620A>C (p.Thr874Pro)
c.2444A>C
n.2560A>C
c.2644A>C (p.Thr882Pro)
c.1366A>C (p.Thr456Pro)
c.2194A>C (p.Thr732Pro)
c.2170A>C (p.Thr724Pro)
n.2575A>C
7g.143351618A>GCA369653477CLCN1c.2620A>G (p.Thr874Ala)
c.2444A>G
n.2560A>G
c.2644A>G (p.Thr882Ala)
c.1366A>G (p.Thr456Ala)
c.2194A>G (p.Thr732Ala)
c.2170A>G (p.Thr724Ala)
n.2575A>G
7g.143351618A>TCA369653478CLCN1c.2620A>T (p.Thr874Ser)
c.2444A>T
n.2560A>T
c.2644A>T (p.Thr882Ser)
c.1366A>T (p.Thr456Ser)
c.2194A>T (p.Thr732Ser)
c.2170A>T (p.Thr724Ser)
n.2575A>T
7g.143351619C>ACA369653479CLCN1c.2621C>A (p.Thr874Asn)
c.2445C>A
n.2561C>A
c.2645C>A (p.Thr882Asn)
c.1367C>A (p.Thr456Asn)
c.2195C>A (p.Thr732Asn)
c.2171C>A (p.Thr724Asn)
n.2576C>A
7g.143351619C=CA1748898247CLCN1c.2621C= (p.Thr874=)
c.2445C=
n.2561C=
c.2645C= (p.Thr882=)
c.1367C= (p.Thr456=)
c.2195C= (p.Thr732=)
c.2171C= (p.Thr724=)
n.2576C=
7g.143351619C>GCA4537755CLCN1c.2621C>G (p.Thr874Ser)
c.2445C>G
n.2561C>G
c.2645C>G (p.Thr882Ser)
c.1367C>G (p.Thr456Ser)
c.2195C>G (p.Thr732Ser)
c.2171C>G (p.Thr724Ser)
n.2576C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351619C>TCA369653480CLCN1c.2621C>T (p.Thr874Ile)
c.2445C>T
n.2561C>T
c.2645C>T (p.Thr882Ile)
c.1367C>T (p.Thr456Ile)
c.2195C>T (p.Thr732Ile)
c.2171C>T (p.Thr724Ile)
n.2576C>T
7g.143351620C>ACA4537756CLCN1c.2622C>A (p.Thr874=)
c.2446C>A
n.2562C>A
c.2646C>A (p.Thr882=)
c.1368C>A (p.Thr456=)
c.2196C>A (p.Thr732=)
c.2172C>A (p.Thr724=)
n.2577C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351620C=CA1748898248CLCN1c.2622C= (p.Thr874=)
c.2446C=
n.2562C=
c.2646C= (p.Thr882=)
c.1368C= (p.Thr456=)
c.2196C= (p.Thr732=)
c.2172C= (p.Thr724=)
n.2577C=
7g.143351620C>GCA458542306CLCN1c.2622C>G (p.Thr874=)
c.2446C>G
n.2562C>G
c.2646C>G (p.Thr882=)
c.1368C>G (p.Thr456=)
c.2196C>G (p.Thr732=)
c.2172C>G (p.Thr724=)
n.2577C>G
 ClinVar dbSNP gnomAD v4
7g.143351620C>TCA458542307CLCN1c.2622C>T (p.Thr874=)
c.2446C>T
n.2562C>T
c.2646C>T (p.Thr882=)
c.1368C>T (p.Thr456=)
c.2196C>T (p.Thr732=)
c.2172C>T (p.Thr724=)
n.2577C>T
7g.143351621A=CA1748898249CLCN1c.2623A= (p.Lys875=)
c.2447A=
n.2563A=
c.2647A= (p.Lys883=)
c.1369A= (p.Lys457=)
c.2197A= (p.Lys733=)
c.2173A= (p.Lys725=)
n.2578A=
7g.143351621A>CCA369653481CLCN1c.2623A>C (p.Lys875Gln)
c.2447A>C
n.2563A>C
c.2647A>C (p.Lys883Gln)
c.1369A>C (p.Lys457Gln)
c.2197A>C (p.Lys733Gln)
c.2173A>C (p.Lys725Gln)
n.2578A>C
7g.143351621A>GCA369653482CLCN1c.2623A>G (p.Lys875Glu)
c.2447A>G
n.2563A>G
c.2647A>G (p.Lys883Glu)
c.1369A>G (p.Lys457Glu)
c.2197A>G (p.Lys733Glu)
c.2173A>G (p.Lys725Glu)
n.2578A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351621A>TCA369653483CLCN1c.2623A>T (p.Lys875Ter)
c.2447A>T
n.2563A>T
c.2647A>T (p.Lys883Ter)
c.1369A>T (p.Lys457Ter)
c.2197A>T (p.Lys733Ter)
c.2173A>T (p.Lys725Ter)
n.2578A>T
7g.143351622A>CCA369653486CLCN1c.2624A>C (p.Lys875Thr)
c.2448A>C
n.2564A>C
c.2648A>C (p.Lys883Thr)
c.1370A>C (p.Lys457Thr)
c.2198A>C (p.Lys733Thr)
c.2174A>C (p.Lys725Thr)
n.2579A>C
 gnomAD v4
7g.143351622A>GCA369653485CLCN1c.2624A>G (p.Lys875Arg)
c.2448A>G
n.2564A>G
c.2648A>G (p.Lys883Arg)
c.1370A>G (p.Lys457Arg)
c.2198A>G (p.Lys733Arg)
c.2174A>G (p.Lys725Arg)
n.2579A>G
7g.143351622A>TCA369653484CLCN1c.2624A>T (p.Lys875Met)
c.2448A>T
n.2564A>T
c.2648A>T (p.Lys883Met)
c.1370A>T (p.Lys457Met)
c.2198A>T (p.Lys733Met)
c.2174A>T (p.Lys725Met)
n.2579A>T
7g.143351623G>ACA4537757CLCN1c.2625G>A (p.Lys875=)
c.2449G>A
n.2565G>A
c.2649G>A (p.Lys883=)
c.1371G>A (p.Lys457=)
c.2199G>A (p.Lys733=)
c.2175G>A (p.Lys725=)
n.2580G>A
 ClinVar dbSNP ExAC gnomAD v2
7g.143351623G>CCA369653487CLCN1c.2625G>C (p.Lys875Asn)
c.2449G>C
n.2565G>C
c.2649G>C (p.Lys883Asn)
c.1371G>C (p.Lys457Asn)
c.2199G>C (p.Lys733Asn)
c.2175G>C (p.Lys725Asn)
n.2580G>C
7g.143351623G=CA1748898250CLCN1c.2625G= (p.Lys875=)
c.2449G=
n.2565G=
c.2649G= (p.Lys883=)
c.1371G= (p.Lys457=)
c.2199G= (p.Lys733=)
c.2175G= (p.Lys725=)
n.2580G=
7g.143351623G>TCA369653488CLCN1c.2625G>T (p.Lys875Asn)
c.2449G>T
n.2565G>T
c.2649G>T (p.Lys883Asn)
c.1371G>T (p.Lys457Asn)
c.2199G>T (p.Lys733Asn)
c.2175G>T (p.Lys725Asn)
n.2580G>T
 dbSNP
7g.143351624T>ACA369653489CLCN1c.2626T>A (p.Ser876Thr)
c.2450T>A
n.2566T>A
c.2650T>A (p.Ser884Thr)
c.1372T>A (p.Ser458Thr)
c.2200T>A (p.Ser734Thr)
c.2176T>A (p.Ser726Thr)
n.2581T>A
7g.143351624T>CCA369653490CLCN1c.2626T>C (p.Ser876Pro)
c.2450T>C
n.2566T>C
c.2650T>C (p.Ser884Pro)
c.1372T>C (p.Ser458Pro)
c.2200T>C (p.Ser734Pro)
c.2176T>C (p.Ser726Pro)
n.2581T>C
7g.143351624T>GCA369653491CLCN1c.2626T>G (p.Ser876Ala)
c.2450T>G
n.2566T>G
c.2650T>G (p.Ser884Ala)
c.1372T>G (p.Ser458Ala)
c.2200T>G (p.Ser734Ala)
c.2176T>G (p.Ser726Ala)
n.2581T>G
7g.143351625C>ACA369653492CLCN1c.2627C>A (p.Ser876Tyr)
c.2451C>A
n.2567C>A
c.2651C>A (p.Ser884Tyr)
c.1373C>A (p.Ser458Tyr)
c.2201C>A (p.Ser734Tyr)
c.2177C>A (p.Ser726Tyr)
n.2582C>A
7g.143351625C=CA1748898251CLCN1c.2627C= (p.Ser876=)
c.2451C=
n.2567C=
c.2651C= (p.Ser884=)
c.1373C= (p.Ser458=)
c.2201C= (p.Ser734=)
c.2177C= (p.Ser726=)
n.2582C=
7g.143351625C>GCA369653493CLCN1c.2627C>G (p.Ser876Cys)
c.2451C>G
n.2567C>G
c.2651C>G (p.Ser884Cys)
c.1373C>G (p.Ser458Cys)
c.2201C>G (p.Ser734Cys)
c.2177C>G (p.Ser726Cys)
n.2582C>G
7g.143351625C>TCA369653494CLCN1c.2627C>T (p.Ser876Phe)
c.2451C>T
n.2567C>T
c.2651C>T (p.Ser884Phe)
c.1373C>T (p.Ser458Phe)
c.2201C>T (p.Ser734Phe)
c.2177C>T (p.Ser726Phe)
n.2582C>T
 dbSNP
7g.143351626T>ACA458542310CLCN1c.2628T>A (p.Ser876=)
c.2452T>A
n.2568T>A
c.2652T>A (p.Ser884=)
c.1374T>A (p.Ser458=)
c.2202T>A (p.Ser734=)
c.2178T>A (p.Ser726=)
n.2583T>A
7g.143351626T>CCA458542308CLCN1c.2628T>C (p.Ser876=)
c.2452T>C
n.2568T>C
c.2652T>C (p.Ser884=)
c.1374T>C (p.Ser458=)
c.2202T>C (p.Ser734=)
c.2178T>C (p.Ser726=)
n.2583T>C
7g.143351626T>GCA458542309CLCN1c.2628T>G (p.Ser876=)
c.2452T>G
n.2568T>G
c.2652T>G (p.Ser884=)
c.1374T>G (p.Ser458=)
c.2202T>G (p.Ser734=)
c.2178T>G (p.Ser726=)
n.2583T>G
7g.143351627G>ACA369653495CLCN1c.2629G>A (p.Gly877Arg)
c.2453G>A
n.2569G>A
c.2653G>A (p.Gly885Arg)
c.1375G>A (p.Gly459Arg)
c.2203G>A (p.Gly735Arg)
c.2179G>A (p.Gly727Arg)
n.2584G>A
7g.143351627G>CCA369653496CLCN1c.2629G>C (p.Gly877Arg)
c.2453G>C
n.2569G>C
c.2653G>C (p.Gly885Arg)
c.1375G>C (p.Gly459Arg)
c.2203G>C (p.Gly735Arg)
c.2179G>C (p.Gly727Arg)
n.2584G>C
7g.143351627G>TCA369653497CLCN1c.2629G>T (p.Gly877Trp)
c.2453G>T
n.2569G>T
c.2653G>T (p.Gly885Trp)
c.1375G>T (p.Gly459Trp)
c.2203G>T (p.Gly735Trp)
c.2179G>T (p.Gly727Trp)
n.2584G>T
7g.143351628G>ACA168231410CLCN1c.2630G>A (p.Gly877Glu)
c.2454G>A
n.2570G>A
c.2654G>A (p.Gly885Glu)
c.1376G>A (p.Gly459Glu)
c.2204G>A (p.Gly735Glu)
c.2180G>A (p.Gly727Glu)
n.2585G>A
 dbSNP
7g.143351628G>CCA369653499CLCN1c.2630G>C (p.Gly877Ala)
c.2454G>C
n.2570G>C
c.2654G>C (p.Gly885Ala)
c.1376G>C (p.Gly459Ala)
c.2204G>C (p.Gly735Ala)
c.2180G>C (p.Gly727Ala)
n.2585G>C
7g.143351628G=CA1748898252CLCN1c.2630G= (p.Gly877=)
c.2454G=
n.2570G=
c.2654G= (p.Gly885=)
c.1376G= (p.Gly459=)
c.2204G= (p.Gly735=)
c.2180G= (p.Gly727=)
n.2585G=
7g.143351628G>TCA369653498CLCN1c.2630G>T (p.Gly877Val)
c.2454G>T
n.2570G>T
c.2654G>T (p.Gly885Val)
c.1376G>T (p.Gly459Val)
c.2204G>T (p.Gly735Val)
c.2180G>T (p.Gly727Val)
n.2585G>T
 gnomAD v4
7g.143351629G>ACA458542311CLCN1c.2631G>A (p.Gly877=)
c.2455G>A
n.2571G>A
c.2655G>A (p.Gly885=)
c.1377G>A (p.Gly459=)
c.2205G>A (p.Gly735=)
c.2181G>A (p.Gly727=)
n.2586G>A
7g.143351629G>CCA458542312CLCN1c.2631G>C (p.Gly877=)
c.2455G>C
n.2571G>C
c.2655G>C (p.Gly885=)
c.1377G>C (p.Gly459=)
c.2205G>C (p.Gly735=)
c.2181G>C (p.Gly727=)
n.2586G>C
7g.143351629G>TCA458542313CLCN1c.2631G>T (p.Gly877=)
c.2455G>T
n.2571G>T
c.2655G>T (p.Gly885=)
c.1377G>T (p.Gly459=)
c.2205G>T (p.Gly735=)
c.2181G>T (p.Gly727=)
n.2586G>T
7g.143351629_143351630delinsTTCA645545735CLCN1c.2631_2632delinsTT (p.Val878Leu)
c.2455_2456delinsTT
n.2571_2572delinsTT
c.2655_2656delinsTT (p.Val886Leu)
c.1377_1378delinsTT (p.Val460Leu)
c.2205_2206delinsTT (p.Val736Leu)
c.2181_2182delinsTT (p.Val728Leu)
n.2586_2587delinsTT
 COSMIC
7g.143351630G>ACA369653500CLCN1c.2632G>A (p.Val878Met)
c.2456G>A
n.2572G>A
c.2656G>A (p.Val886Met)
c.1378G>A (p.Val460Met)
c.2206G>A (p.Val736Met)
c.2182G>A (p.Val728Met)
n.2587G>A
 ClinVar dbSNP gnomAD v4
7g.143351630G>CCA369653501CLCN1c.2632G>C (p.Val878Leu)
c.2456G>C
n.2572G>C
c.2656G>C (p.Val886Leu)
c.1378G>C (p.Val460Leu)
c.2206G>C (p.Val736Leu)
c.2182G>C (p.Val728Leu)
n.2587G>C
7g.143351630G=CA1748898253CLCN1c.2632G= (p.Val878=)
c.2456G=
n.2572G=
c.2656G= (p.Val886=)
c.1378G= (p.Val460=)
c.2206G= (p.Val736=)
c.2182G= (p.Val728=)
n.2587G=
7g.143351630G>TCA369653502CLCN1c.2632G>T (p.Val878Leu)
c.2456G>T
n.2572G>T
c.2656G>T (p.Val886Leu)
c.1378G>T (p.Val460Leu)
c.2206G>T (p.Val736Leu)
c.2182G>T (p.Val728Leu)
n.2587G>T
7g.143351631T>ACA369653503CLCN1c.2633T>A (p.Val878Glu)
c.2457T>A
n.2573T>A
c.2657T>A (p.Val886Glu)
c.1379T>A (p.Val460Glu)
c.2207T>A (p.Val736Glu)
c.2183T>A (p.Val728Glu)
n.2588T>A
7g.143351631T>CCA369653504CLCN1c.2633T>C (p.Val878Ala)
c.2457T>C
n.2573T>C
c.2657T>C (p.Val886Ala)
c.1379T>C (p.Val460Ala)
c.2207T>C (p.Val736Ala)
c.2183T>C (p.Val728Ala)
n.2588T>C
7g.143351631T>GCA369653505CLCN1c.2633T>G (p.Val878Gly)
c.2457T>G
n.2573T>G
c.2657T>G (p.Val886Gly)
c.1379T>G (p.Val460Gly)
c.2207T>G (p.Val736Gly)
c.2183T>G (p.Val728Gly)
n.2588T>G
7g.143351632G>ACA458542314CLCN1c.2634G>A (p.Val878=)
c.2458G>A
n.2574G>A
c.2658G>A (p.Val886=)
c.1380G>A (p.Val460=)
c.2208G>A (p.Val736=)
c.2184G>A (p.Val728=)
n.2589G>A
 gnomAD v4
7g.143351632G>CCA458542315CLCN1c.2634G>C (p.Val878=)
c.2458G>C
n.2574G>C
c.2658G>C (p.Val886=)
c.1380G>C (p.Val460=)
c.2208G>C (p.Val736=)
c.2184G>C (p.Val728=)
n.2589G>C
7g.143351632G>TCA458542316CLCN1c.2634G>T (p.Val878=)
c.2458G>T
n.2574G>T
c.2658G>T (p.Val886=)
c.1380G>T (p.Val460=)
c.2208G>T (p.Val736=)
c.2184G>T (p.Val728=)
n.2589G>T
7g.143351633C>ACA369653507CLCN1c.2635C>A (p.Gln879Lys)
c.2459C>A
n.2575C>A
c.2659C>A (p.Gln887Lys)
c.1381C>A (p.Gln461Lys)
c.2209C>A (p.Gln737Lys)
c.2185C>A (p.Gln729Lys)
n.2590C>A
7g.143351633C=CA1748898254CLCN1c.2635C= (p.Gln879=)
c.2459C=
n.2575C=
c.2659C= (p.Gln887=)
c.1381C= (p.Gln461=)
c.2209C= (p.Gln737=)
c.2185C= (p.Gln729=)
n.2590C=
7g.143351633C>GCA369653506CLCN1c.2635C>G (p.Gln879Glu)
c.2459C>G
n.2575C>G
c.2659C>G (p.Gln887Glu)
c.1381C>G (p.Gln461Glu)
c.2209C>G (p.Gln737Glu)
c.2185C>G (p.Gln729Glu)
n.2590C>G
7g.143351633C>TCA16043424CLCN1c.2635C>T (p.Gln879Ter)
c.2459C>T
n.2575C>T
c.2659C>T (p.Gln887Ter)
c.1381C>T (p.Gln461Ter)
c.2209C>T (p.Gln737Ter)
c.2185C>T (p.Gln729Ter)
n.2590C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351634A>CCA369653508CLCN1c.2636A>C (p.Gln879Pro)
c.2460A>C
n.2576A>C
c.2660A>C (p.Gln887Pro)
c.1382A>C (p.Gln461Pro)
c.2210A>C (p.Gln737Pro)
c.2186A>C (p.Gln729Pro)
n.2591A>C
7g.143351634A>GCA369653509CLCN1c.2636A>G (p.Gln879Arg)
c.2460A>G
n.2576A>G
c.2660A>G (p.Gln887Arg)
c.1382A>G (p.Gln461Arg)
c.2210A>G (p.Gln737Arg)
c.2186A>G (p.Gln729Arg)
n.2591A>G
 gnomAD v4
7g.143351634A>TCA369653510CLCN1c.2636A>T (p.Gln879Leu)
c.2460A>T
n.2576A>T
c.2660A>T (p.Gln887Leu)
c.1382A>T (p.Gln461Leu)
c.2210A>T (p.Gln737Leu)
c.2186A>T (p.Gln729Leu)
n.2591A>T
7g.143351635G>ACA458542317CLCN1c.2637G>A (p.Gln879=)
c.2461G>A
n.2577G>A
c.2661G>A (p.Gln887=)
c.1383G>A (p.Gln461=)
c.2211G>A (p.Gln737=)
c.2187G>A (p.Gln729=)
n.2592G>A
7g.143351635G>CCA369653511CLCN1c.2637G>C (p.Gln879His)
c.2461G>C
n.2577G>C
c.2661G>C (p.Gln887His)
c.1383G>C (p.Gln461His)
c.2211G>C (p.Gln737His)
c.2187G>C (p.Gln729His)
n.2592G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143351635G=CA1748898255CLCN1c.2637G= (p.Gln879=)
c.2461G=
n.2577G=
c.2661G= (p.Gln887=)
c.1383G= (p.Gln461=)
c.2211G= (p.Gln737=)
c.2187G= (p.Gln729=)
n.2592G=
7g.143351635G>TCA369653512CLCN1c.2637G>T (p.Gln879His)
c.2461G>T
n.2577G>T
c.2661G>T (p.Gln887His)
c.1383G>T (p.Gln461His)
c.2211G>T (p.Gln737His)
c.2187G>T (p.Gln729His)
n.2592G>T
7g.143351636C>ACA369653513CLCN1c.2638C>A (p.Leu880Ile)
c.2462C>A
n.2578C>A
c.2662C>A (p.Leu888Ile)
c.1384C>A (p.Leu462Ile)
c.2212C>A (p.Leu738Ile)
c.2188C>A (p.Leu730Ile)
n.2593C>A
7g.143351636C=CA1748898256CLCN1c.2638C= (p.Leu880=)
c.2462C=
n.2578C=
c.2662C= (p.Leu888=)
c.1384C= (p.Leu462=)
c.2212C= (p.Leu738=)
c.2188C= (p.Leu730=)
n.2593C=
7g.143351636C>GCA369653515CLCN1c.2638C>G (p.Leu880Val)
c.2462C>G
n.2578C>G
c.2662C>G (p.Leu888Val)
c.1384C>G (p.Leu462Val)
c.2212C>G (p.Leu738Val)
c.2188C>G (p.Leu730Val)
n.2593C>G
 dbSNP gnomAD v4
7g.143351636C>TCA369653514CLCN1c.2638C>T (p.Leu880Phe)
c.2462C>T
n.2578C>T
c.2662C>T (p.Leu888Phe)
c.1384C>T (p.Leu462Phe)
c.2212C>T (p.Leu738Phe)
c.2188C>T (p.Leu730Phe)
n.2593C>T
 dbSNP
7g.143351637_143351639delCA2580077631CLCN1c.2639_2641del (p.Leu880del)
c.2463_2465del
n.2579_2581del
c.2663_2665del (p.Leu888del)
c.1385_1387del (p.Leu462del)
c.2213_2215del (p.Leu738del)
c.2189_2191del (p.Leu730del)
n.2594_2596del
 ClinVar
7g.143351637T>ACA369653516CLCN1c.2639T>A (p.Leu880His)
c.2463T>A
n.2579T>A
c.2663T>A (p.Leu888His)
c.1385T>A (p.Leu462His)
c.2213T>A (p.Leu738His)
c.2189T>A (p.Leu730His)
n.2594T>A
7g.143351637T>CCA369653517CLCN1c.2639T>C (p.Leu880Pro)
c.2463T>C
n.2579T>C
c.2663T>C (p.Leu888Pro)
c.1385T>C (p.Leu462Pro)
c.2213T>C (p.Leu738Pro)
c.2189T>C (p.Leu730Pro)
n.2594T>C
 dbSNP gnomAD v2 gnomAD v4
7g.143351637T>GCA369653518CLCN1c.2639T>G (p.Leu880Arg)
c.2463T>G
n.2579T>G
c.2663T>G (p.Leu888Arg)
c.1385T>G (p.Leu462Arg)
c.2213T>G (p.Leu738Arg)
c.2189T>G (p.Leu730Arg)
n.2594T>G
7g.143351637T=CA1748898257CLCN1c.2639T= (p.Leu880=)
c.2463T=
n.2579T=
c.2663T= (p.Leu888=)
c.1385T= (p.Leu462=)
c.2213T= (p.Leu738=)
c.2189T= (p.Leu730=)
n.2594T=
7g.143351638C>ACA458542318CLCN1c.2640C>A (p.Leu880=)
c.2464C>A
n.2580C>A
c.2664C>A (p.Leu888=)
c.1386C>A (p.Leu462=)
c.2214C>A (p.Leu738=)
c.2190C>A (p.Leu730=)
n.2595C>A
7g.143351638C>GCA458542319CLCN1c.2640C>G (p.Leu880=)
c.2464C>G
n.2580C>G
c.2664C>G (p.Leu888=)
c.1386C>G (p.Leu462=)
c.2214C>G (p.Leu738=)
c.2190C>G (p.Leu730=)
n.2595C>G
7g.143351638C>TCA458542320CLCN1c.2640C>T (p.Leu880=)
c.2464C>T
n.2580C>T
c.2664C>T (p.Leu888=)
c.1386C>T (p.Leu462=)
c.2214C>T (p.Leu738=)
c.2190C>T (p.Leu730=)
n.2595C>T
 COSMIC
7g.143351639C>ACA369653519CLCN1c.2641C>A (p.Arg881Ser)
c.2465C>A
n.2581C>A
c.2665C>A (p.Arg889Ser)
c.1387C>A (p.Arg463Ser)
c.2215C>A (p.Arg739Ser)
c.2191C>A (p.Arg731Ser)
n.2596C>A
7g.143351639C=CA1748898258CLCN1c.2641C= (p.Arg881=)
c.2465C=
n.2581C=
c.2665C= (p.Arg889=)
c.1387C= (p.Arg463=)
c.2215C= (p.Arg739=)
c.2191C= (p.Arg731=)
n.2596C=
7g.143351639C>GCA369653520CLCN1c.2641C>G (p.Arg881Gly)
c.2465C>G
n.2581C>G
c.2665C>G (p.Arg889Gly)
c.1387C>G (p.Arg463Gly)
c.2215C>G (p.Arg739Gly)
c.2191C>G (p.Arg731Gly)
n.2596C>G
7g.143351639C>TCA369653521CLCN1c.2641C>T (p.Arg881Cys)
c.2465C>T
n.2581C>T
c.2665C>T (p.Arg889Cys)
c.1387C>T (p.Arg463Cys)
c.2215C>T (p.Arg739Cys)
c.2191C>T (p.Arg731Cys)
n.2596C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.143351640G>ACA4537758CLCN1c.2642G>A (p.Arg881His)
c.2466G>A
n.2582G>A
c.2666G>A (p.Arg889His)
c.1388G>A (p.Arg463His)
c.2216G>A (p.Arg739His)
c.2192G>A (p.Arg731His)
n.2597G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.143351640G>CCA369653522CLCN1c.2642G>C (p.Arg881Pro)
c.2466G>C
n.2582G>C
c.2666G>C (p.Arg889Pro)
c.1388G>C (p.Arg463Pro)
c.2216G>C (p.Arg739Pro)
c.2192G>C (p.Arg731Pro)
n.2597G>C
7g.143351640G=CA1748898259CLCN1c.2642G= (p.Arg881=)
c.2466G=
n.2582G=
c.2666G= (p.Arg889=)
c.1388G= (p.Arg463=)
c.2216G= (p.Arg739=)
c.2192G= (p.Arg731=)
n.2597G=
7g.143351640G>TCA369653523CLCN1c.2642G>T (p.Arg881Leu)
c.2466G>T
n.2582G>T
c.2666G>T (p.Arg889Leu)
c.1388G>T (p.Arg463Leu)
c.2216G>T (p.Arg739Leu)
c.2192G>T (p.Arg731Leu)
n.2597G>T
 gnomAD v4 COSMIC
7g.143351641C>ACA458542323CLCN1c.2643C>A (p.Arg881=)
c.2467C>A
n.2583C>A
c.2667C>A (p.Arg889=)
c.1389C>A (p.Arg463=)
c.2217C>A (p.Arg739=)
c.2193C>A (p.Arg731=)
n.2598C>A
7g.143351641C>GCA458542322CLCN1c.2643C>G (p.Arg881=)
c.2467C>G
n.2583C>G
c.2667C>G (p.Arg889=)
c.1389C>G (p.Arg463=)
c.2217C>G (p.Arg739=)
c.2193C>G (p.Arg731=)
n.2598C>G
7g.143351641C>TCA458542321CLCN1c.2643C>T (p.Arg881=)
c.2467C>T
n.2583C>T
c.2667C>T (p.Arg889=)
c.1389C>T (p.Arg463=)
c.2217C>T (p.Arg739=)
c.2193C>T (p.Arg731=)
n.2598C>T
7g.143351642C>ACA369653524CLCN1c.2644C>A (p.Pro882Thr)
c.2468C>A
n.2584C>A
c.2668C>A (p.Pro890Thr)
c.1390C>A (p.Pro464Thr)
c.2218C>A (p.Pro740Thr)
c.2194C>A (p.Pro732Thr)
n.2599C>A
7g.143351642C=CA1748898260CLCN1c.2644C= (p.Pro882=)
c.2468C=
n.2584C=
c.2668C= (p.Pro890=)
c.1390C= (p.Pro464=)
c.2218C= (p.Pro740=)
c.2194C= (p.Pro732=)
n.2599C=
7g.143351642C>GCA369653525CLCN1c.2644C>G (p.Pro882Ala)
c.2468C>G
n.2584C>G
c.2668C>G (p.Pro890Ala)
c.1390C>G (p.Pro464Ala)
c.2218C>G (p.Pro740Ala)
c.2194C>G (p.Pro732Ala)
n.2599C>G
7g.143351642C>TCA369653526CLCN1c.2644C>T (p.Pro882Ser)
c.2468C>T
n.2584C>T
c.2668C>T (p.Pro890Ser)
c.1390C>T (p.Pro464Ser)
c.2218C>T (p.Pro740Ser)
c.2194C>T (p.Pro732Ser)
n.2599C>T
 dbSNP
7g.143351643C>ACA369653527CLCN1c.2645C>A (p.Pro882His)
c.2469C>A
n.2585C>A
c.2669C>A (p.Pro890His)
c.1391C>A (p.Pro464His)
c.2219C>A (p.Pro740His)
c.2195C>A (p.Pro732His)
n.2600C>A
7g.143351643C=CA1748898261CLCN1c.2645C= (p.Pro882=)
c.2469C=
n.2585C=
c.2669C= (p.Pro890=)
c.1391C= (p.Pro464=)
c.2219C= (p.Pro740=)
c.2195C= (p.Pro732=)
n.2600C=
7g.143351643C>GCA369653528CLCN1c.2645C>G (p.Pro882Arg)
c.2469C>G
n.2585C>G
c.2669C>G (p.Pro890Arg)
c.1391C>G (p.Pro464Arg)
c.2219C>G (p.Pro740Arg)
c.2195C>G (p.Pro732Arg)
n.2600C>G
7g.143351643C>TCA4537759CLCN1c.2645C>T (p.Pro882Leu)
c.2469C>T
n.2585C>T
c.2669C>T (p.Pro890Leu)
c.1391C>T (p.Pro464Leu)
c.2219C>T (p.Pro740Leu)
c.2195C>T (p.Pro732Leu)
n.2600C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351644T>ACA458542324CLCN1c.2646T>A (p.Pro882=)
c.2470T>A
n.2586T>A
c.2670T>A (p.Pro890=)
c.1392T>A (p.Pro464=)
c.2220T>A (p.Pro740=)
c.2196T>A (p.Pro732=)
n.2601T>A
7g.143351644T>CCA458542325CLCN1c.2646T>C (p.Pro882=)
c.2470T>C
n.2586T>C
c.2670T>C (p.Pro890=)
c.1392T>C (p.Pro464=)
c.2220T>C (p.Pro740=)
c.2196T>C (p.Pro732=)
n.2601T>C
7g.143351644T>GCA458542326CLCN1c.2646T>G (p.Pro882=)
c.2470T>G
n.2586T>G
c.2670T>G (p.Pro890=)
c.1392T>G (p.Pro464=)
c.2220T>G (p.Pro740=)
c.2196T>G (p.Pro732=)
n.2601T>G
7g.143351645C>ACA4537760CLCN1c.2647C>A (p.Pro883Thr)
c.2471C>A
n.2587C>A
c.2671C>A (p.Pro891Thr)
c.1393C>A (p.Pro465Thr)
c.2221C>A (p.Pro741Thr)
c.2197C>A (p.Pro733Thr)
n.2602C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.143351645C=CA1748898262CLCN1c.2647C= (p.Pro883=)
c.2471C=
n.2587C=
c.2671C= (p.Pro891=)
c.1393C= (p.Pro465=)
c.2221C= (p.Pro741=)
c.2197C= (p.Pro733=)
n.2602C=
7g.143351645C>GCA369653529CLCN1c.2647C>G (p.Pro883Ala)
c.2471C>G
n.2587C>G
c.2671C>G (p.Pro891Ala)
c.1393C>G (p.Pro465Ala)
c.2221C>G (p.Pro741Ala)
c.2197C>G (p.Pro733Ala)
n.2602C>G
7g.143351645C>TCA369653530CLCN1c.2647C>T (p.Pro883Ser)
c.2471C>T
n.2587C>T
c.2671C>T (p.Pro891Ser)
c.1393C>T (p.Pro465Ser)
c.2221C>T (p.Pro741Ser)
c.2197C>T (p.Pro733Ser)
n.2602C>T
7g.143351648dupCA2685382642CLCN1c.2650dup (p.Leu884ProfsTer28)
c.2474dup
n.2590dup
c.2674dup (p.Leu892ProfsTer28)
c.1396dup (p.Leu466ProfsTer28)
c.2224dup (p.Leu742ProfsTer28)
c.2200dup (p.Leu734ProfsTer28)
n.2605dup
 gnomAD v4
7g.143351646C>ACA369653531CLCN1c.2648C>A (p.Pro883His)
c.2472C>A
n.2588C>A
c.2672C>A (p.Pro891His)
c.1394C>A (p.Pro465His)
c.2222C>A (p.Pro741His)
c.2198C>A (p.Pro733His)
n.2603C>A
7g.143351646C>GCA369653532CLCN1c.2648C>G (p.Pro883Arg)
c.2472C>G
n.2588C>G
c.2672C>G (p.Pro891Arg)
c.1394C>G (p.Pro465Arg)
c.2222C>G (p.Pro741Arg)
c.2198C>G (p.Pro733Arg)
n.2603C>G
7g.143351646C>TCA369653533CLCN1c.2648C>T (p.Pro883Leu)
c.2472C>T
n.2588C>T
c.2672C>T (p.Pro891Leu)
c.1394C>T (p.Pro465Leu)
c.2222C>T (p.Pro741Leu)
c.2198C>T (p.Pro733Leu)
n.2603C>T
 COSMIC
7g.143351647C>ACA458542328CLCN1c.2649C>A (p.Pro883=)
c.2473C>A
n.2589C>A
c.2673C>A (p.Pro891=)
c.1395C>A (p.Pro465=)
c.2223C>A (p.Pro741=)
c.2199C>A (p.Pro733=)
n.2604C>A
7g.143351647C=CA1748898263CLCN1c.2649C= (p.Pro883=)
c.2473C=
n.2589C=
c.2673C= (p.Pro891=)
c.1395C= (p.Pro465=)
c.2223C= (p.Pro741=)
c.2199C= (p.Pro733=)
n.2604C=
7g.143351647C>GCA458542327CLCN1c.2649C>G (p.Pro883=)
c.2473C>G
n.2589C>G
c.2673C>G (p.Pro891=)
c.1395C>G (p.Pro465=)
c.2223C>G (p.Pro741=)
c.2199C>G (p.Pro733=)
n.2604C>G
7g.143351647C>TCA4537761CLCN1c.2649C>T (p.Pro883=)
c.2473C>T
n.2589C>T
c.2673C>T (p.Pro891=)
c.1395C>T (p.Pro465=)
c.2223C>T (p.Pro741=)
c.2199C>T (p.Pro733=)
n.2604C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143351647_143351648delinsTTCA645545736CLCN1c.2649_2650delinsTT (p.Leu884Phe)
c.2473_2474delinsTT
n.2589_2590delinsTT
c.2673_2674delinsTT (p.Leu892Phe)
c.1395_1396delinsTT (p.Leu466Phe)
c.2223_2224delinsTT (p.Leu742Phe)
c.2199_2200delinsTT (p.Leu734Phe)
n.2604_2605delinsTT
 COSMIC
7g.143351648C>ACA369653534CLCN1c.2650C>A (p.Leu884Ile)
c.2474C>A
n.2590C>A
c.2674C>A (p.Leu892Ile)
c.1396C>A (p.Leu466Ile)
c.2224C>A (p.Leu742Ile)
c.2200C>A (p.Leu734Ile)
n.2605C>A
7g.143351648C=CA1748898264CLCN1c.2650C= (p.Leu884=)
c.2474C=
n.2590C=
c.2674C= (p.Leu892=)
c.1396C= (p.Leu466=)
c.2224C= (p.Leu742=)
c.2200C= (p.Leu734=)
n.2605C=
7g.143351648C>GCA369653535CLCN1c.2650C>G (p.Leu884Val)
c.2474C>G
n.2590C>G
c.2674C>G (p.Leu892Val)
c.1396C>G (p.Leu466Val)
c.2224C>G (p.Leu742Val)
c.2200C>G (p.Leu734Val)
n.2605C>G
7g.143351648C>TCA369653536CLCN1c.2650C>T (p.Leu884Phe)
c.2474C>T
n.2590C>T
c.2674C>T (p.Leu892Phe)
c.1396C>T (p.Leu466Phe)
c.2224C>T (p.Leu742Phe)
c.2200C>T (p.Leu734Phe)
n.2605C>T
 dbSNP gnomAD v2 gnomAD v4
7g.143351649T>ACA369653537CLCN1c.2651T>A (p.Leu884His)
c.2475T>A
n.2591T>A
c.2675T>A (p.Leu892His)
c.1397T>A (p.Leu466His)
c.2225T>A (p.Leu742His)
c.2201T>A (p.Leu734His)
n.2606T>A
7g.143351649T>CCA369653538CLCN1c.2651T>C (p.Leu884Pro)
c.2475T>C
n.2591T>C
c.2675T>C (p.Leu892Pro)
c.1397T>C (p.Leu466Pro)
c.2225T>C (p.Leu742Pro)
c.2201T>C (p.Leu734Pro)
n.2606T>C
7g.143351649T>GCA369653539CLCN1c.2651T>G (p.Leu884Arg)
c.2475T>G
n.2591T>G
c.2675T>G (p.Leu892Arg)
c.1397T>G (p.Leu466Arg)
c.2225T>G (p.Leu742Arg)
c.2201T>G (p.Leu734Arg)
n.2606T>G

Number of alleles fetched