Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.143351541_143351542delinsCT | CA1748898215 | CLCN1 | c.2596-53_2596-52delinsCT (n.2596-53_2596-52delinsCT) c.2420-53_2420-52delinsCT n.2536-53_2536-52delinsCT c.2620-53_2620-52delinsCT (n.2620-53_2620-52delinsCT) c.1342-53_1342-52delinsCT (n.1342-53_1342-52delinsCT) c.2170-53_2170-52delinsCT (n.2170-53_2170-52delinsCT) c.2146-53_2146-52delinsCT (n.2146-53_2146-52delinsCT) n.2551-53_2551-52delinsCT | |
7 | g.143351542T>C | CA1108133581 | CLCN1 | c.2596-52T>C (n.2596-52T>C) c.2420-52T>C n.2536-52T>C c.2620-52T>C (n.2620-52T>C) c.1342-52T>C (n.1342-52T>C) c.2170-52T>C (n.2170-52T>C) c.2146-52T>C (n.2146-52T>C) n.2551-52T>C | dbSNP gnomAD v4 |
7 | g.143351542T= | CA1748898216 | CLCN1 | c.2596-52T= (n.2596-52T=) c.2420-52T= n.2536-52T= c.2620-52T= (n.2620-52T=) c.1342-52T= (n.1342-52T=) c.2170-52T= (n.2170-52T=) c.2146-52T= (n.2146-52T=) n.2551-52T= | |
7 | g.143351547del | CA918151270 | CLCN1 | c.2596-47del (n.2596-47del) c.2420-47del n.2536-47del c.2620-47del (n.2620-47del) c.1342-47del (n.1342-47del) c.2170-47del (n.2170-47del) c.2146-47del (n.2146-47del) n.2551-47del | dbSNP gnomAD v4 |
7 | g.143351544T>C | CA578626951 | CLCN1 | c.2596-50T>C (n.2596-50T>C) c.2420-50T>C n.2536-50T>C c.2620-50T>C (n.2620-50T>C) c.1342-50T>C (n.1342-50T>C) c.2170-50T>C (n.2170-50T>C) c.2146-50T>C (n.2146-50T>C) n.2551-50T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.143351544T= | CA1748898217 | CLCN1 | c.2596-50T= (n.2596-50T=) c.2420-50T= n.2536-50T= c.2620-50T= (n.2620-50T=) c.1342-50T= (n.1342-50T=) c.2170-50T= (n.2170-50T=) c.2146-50T= (n.2146-50T=) n.2551-50T= | |
7 | g.143351545T>G | CA4537743 | CLCN1 | c.2596-49T>G (n.2596-49T>G) c.2420-49T>G n.2536-49T>G c.2620-49T>G (n.2620-49T>G) c.1342-49T>G (n.1342-49T>G) c.2170-49T>G (n.2170-49T>G) c.2146-49T>G (n.2146-49T>G) n.2551-49T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143351545T= | CA1748898218 | CLCN1 | c.2596-49T= (n.2596-49T=) c.2420-49T= n.2536-49T= c.2620-49T= (n.2620-49T=) c.1342-49T= (n.1342-49T=) c.2170-49T= (n.2170-49T=) c.2146-49T= (n.2146-49T=) n.2551-49T= | |
7 | g.143351546T>C | CA2715829082 | CLCN1 | c.2596-48T>C (n.2596-48T>C) c.2420-48T>C n.2536-48T>C c.2620-48T>C (n.2620-48T>C) c.1342-48T>C (n.1342-48T>C) c.2170-48T>C (n.2170-48T>C) c.2146-48T>C (n.2146-48T>C) n.2551-48T>C | dbSNP |
7 | g.143351547T>C | CA578626952 | CLCN1 | c.2596-47T>C (n.2596-47T>C) c.2420-47T>C n.2536-47T>C c.2620-47T>C (n.2620-47T>C) c.1342-47T>C (n.1342-47T>C) c.2170-47T>C (n.2170-47T>C) c.2146-47T>C (n.2146-47T>C) n.2551-47T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351547T= | CA1748898219 | CLCN1 | c.2596-47T= (n.2596-47T=) c.2420-47T= n.2536-47T= c.2620-47T= (n.2620-47T=) c.1342-47T= (n.1342-47T=) c.2170-47T= (n.2170-47T=) c.2146-47T= (n.2146-47T=) n.2551-47T= | |
7 | g.143351548C>A | CA2685382579 | CLCN1 | c.2596-46C>A (n.2596-46C>A) c.2420-46C>A n.2536-46C>A c.2620-46C>A (n.2620-46C>A) c.1342-46C>A (n.1342-46C>A) c.2170-46C>A (n.2170-46C>A) c.2146-46C>A (n.2146-46C>A) n.2551-46C>A | gnomAD v4 |
7 | g.143351548C= | CA1748898220 | CLCN1 | c.2596-46C= (n.2596-46C=) c.2420-46C= n.2536-46C= c.2620-46C= (n.2620-46C=) c.1342-46C= (n.1342-46C=) c.2170-46C= (n.2170-46C=) c.2146-46C= (n.2146-46C=) n.2551-46C= | |
7 | g.143351548C>T | CA4537744 | CLCN1 | c.2596-46C>T (n.2596-46C>T) c.2420-46C>T n.2536-46C>T c.2620-46C>T (n.2620-46C>T) c.1342-46C>T (n.1342-46C>T) c.2170-46C>T (n.2170-46C>T) c.2146-46C>T (n.2146-46C>T) n.2551-46C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143351549T>C | CA2685382580 | CLCN1 | c.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 |
7 | g.143351550T>G | CA2685382582 | CLCN1 | c.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 |
7 | g.143351551T>C | CA2579051077 | CLCN1 | c.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 | |
7 | g.143351553T>A | CA1748898221 | CLCN1 | c.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 |
7 | g.143351553T>C | CA4537745 | CLCN1 | c.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 |
7 | g.143351553T= | CA1748898222 | CLCN1 | c.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= | |
7 | g.143351554C>A | CA2685382584 | CLCN1 | c.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 |
7 | g.143351554C= | CA1748898223 | CLCN1 | c.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= | |
7 | g.143351554C>T | CA4537746 | CLCN1 | c.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 |
7 | g.143351554_143351558del | CA2685382583 | CLCN1 | c.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 |
7 | g.143351555_143351558del | CA578626953 | CLCN1 | c.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 |
7 | g.143351555C>A | CA578626954 | CLCN1 | c.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 |
7 | g.143351555C= | CA1748898224 | CLCN1 | c.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= | |
7 | g.143351555C>T | CA2685382585 | CLCN1 | c.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 |
7 | g.143351556A>T | CA2778231039 | CLCN1 | c.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 | |
7 | g.143351557A= | CA1748898225 | CLCN1 | c.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= | |
7 | g.143351557A>C | CA578626955 | CLCN1 | c.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 |
7 | g.143351557A>G | CA168231357 | CLCN1 | c.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 |
7 | g.143351557_143351558insTTTT | CA578626956 | CLCN1 | c.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 |
7 | g.143351559T>G | CA2685382587 | CLCN1 | c.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 |
7 | g.143351563del | CA2685382586 | CLCN1 | c.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 |
7 | g.143351562T>G | CA4537747 | CLCN1 | c.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 |
7 | g.143351562T= | CA1748898226 | CLCN1 | c.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= | |
7 | g.143351563T>C | CA2579051078 | CLCN1 | c.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 |
7 | g.143351563_143351564delinsTA | CA1748898227 | CLCN1 | c.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 | |
7 | g.143351564del | CA1108133592 | CLCN1 | c.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 |
7 | g.143351564A>T | CA2715829087 | CLCN1 | c.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 |
7 | g.143351565C>A | CA2685382588 | CLCN1 | c.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 |
7 | g.143351565C= | CA1748898228 | CLCN1 | c.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= | |
7 | g.143351565C>T | CA4537748 | CLCN1 | c.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 |
7 | g.143351567C= | CA1748898229 | CLCN1 | c.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= | |
7 | g.143351567C>T | CA4537749 | CLCN1 | c.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 |
7 | g.143351569C= | CA1748898230 | CLCN1 | c.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= | |
7 | g.143351569C>G | CA578626957 | CLCN1 | c.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 |
7 | g.143351569C>T | CA2685382589 | CLCN1 | c.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 |
7 | g.143351570T>G | CA834501749 | CLCN1 | c.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 |
7 | g.143351570T= | CA1748898231 | CLCN1 | c.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= | |
7 | g.143351572T>A | CA168231370 | CLCN1 | c.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 |
7 | g.143351572T>C | CA2685382590 | CLCN1 | c.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 |
7 | g.143351572T= | CA1748898232 | CLCN1 | c.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= | |
7 | g.143351574C>G | CA2685382591 | CLCN1 | c.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 |
7 | g.143351575C>T | CA2523139416 | CLCN1 | c.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 | |
7 | g.143351576T>C | CA2685382592 | CLCN1 | c.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 |
7 | g.143351576T>G | CA2685382593 | CLCN1 | c.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 |
7 | g.143351578T>A | CA578626958 | CLCN1 | c.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 |
7 | g.143351578T= | CA1748898233 | CLCN1 | c.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= | |
7 | g.143351582A>C | CA1108133596 | CLCN1 | c.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 |
7 | g.143351583C>G | CA2573141808 | CLCN1 | c.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 |
7 | g.143351583_143351584delinsCT | CA1748898234 | CLCN1 | c.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 | |
7 | g.143351584del | CA578626959 | CLCN1 | c.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 |
7 | g.143351585G>A | CA2685382594 | CLCN1 | c.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 |
7 | g.143351585G>C | CA578626960 | CLCN1 | c.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 |
7 | g.143351585G= | CA1748898235 | CLCN1 | c.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= | |
7 | g.143351585G>T | CA4537750 | CLCN1 | c.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 |
7 | g.143351586C= | CA1748898236 | CLCN1 | c.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= | |
7 | g.143351586C>T | CA834501760 | CLCN1 | c.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 |
7 | g.143351587T>C | CA2573141809 | CLCN1 | c.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 |
7 | g.143351590T>G | CA2573141810 | CLCN1 | c.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 |
7 | g.143351592A>C | CA369653418 | CLCN1 | c.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 | |
7 | g.143351592A>G | CA369653417 | CLCN1 | c.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 | |
7 | g.143351592A>T | CA369653419 | CLCN1 | c.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 | |
7 | g.143351593G>A | CA4537751 | CLCN1 | c.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 |
7 | g.143351593G>C | CA369653420 | CLCN1 | c.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 | |
7 | g.143351593G= | CA1748898237 | CLCN1 | c.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= | |
7 | g.143351593G>T | CA369653421 | CLCN1 | c.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 | |
7 | g.143351594C>A | CA369653422 | CLCN1 | c.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 | |
7 | g.143351594C>G | CA369653423 | CLCN1 | c.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 | |
7 | g.143351594C>T | CA458542292 | CLCN1 | c.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 | |
7 | g.143351595T>A | CA369653424 | CLCN1 | c.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 | |
7 | g.143351595T>C | CA369653425 | CLCN1 | c.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 | |
7 | g.143351595T>G | CA369653426 | CLCN1 | c.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 | |
7 | g.143351596A>C | CA458542293 | CLCN1 | c.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 | |
7 | g.143351596A>G | CA458542294 | CLCN1 | c.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 | |
7 | g.143351596A>T | CA458542295 | CLCN1 | c.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 | |
7 | g.143351597C>A | CA369653427 | CLCN1 | c.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 | |
7 | g.143351597C>G | CA369653428 | CLCN1 | c.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 | |
7 | g.143351597C>T | CA369653429 | CLCN1 | c.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 | |
7 | g.143351598A>C | CA369653432 | CLCN1 | c.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 | |
7 | g.143351598A>G | CA369653430 | CLCN1 | c.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 | |
7 | g.143351598A>T | CA369653431 | CLCN1 | c.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 | |
7 | g.143351599G>A | CA458542296 | CLCN1 | c.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 | |
7 | g.143351599G>C | CA369653433 | CLCN1 | c.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 | |
7 | g.143351599G>T | CA369653434 | CLCN1 | c.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 | |
7 | g.143351600A>C | CA369653435 | CLCN1 | c.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 | |
7 | g.143351600A>G | CA369653436 | CLCN1 | c.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 | |
7 | g.143351600A>T | CA369653437 | CLCN1 | c.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 | |
7 | g.143351601A>C | CA369653438 | CLCN1 | c.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 | |
7 | g.143351601A>G | CA369653439 | CLCN1 | c.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 | |
7 | g.143351601A>T | CA369653440 | CLCN1 | c.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 | |
7 | g.143351602G>A | CA4537752 | CLCN1 | c.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 |
7 | g.143351602G>C | CA369653441 | CLCN1 | c.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 | |
7 | g.143351602G= | CA1748898238 | CLCN1 | c.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= | |
7 | g.143351602G>T | CA369653442 | CLCN1 | c.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 | |
7 | g.143351603G>A | CA4537753 | CLCN1 | c.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 |
7 | g.143351603G>C | CA369653444 | CLCN1 | c.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 | |
7 | g.143351603G= | CA1748898239 | CLCN1 | c.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= | |
7 | g.143351603G>T | CA369653443 | CLCN1 | c.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 | |
7 | g.143351604C>A | CA369653445 | CLCN1 | c.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 | |
7 | g.143351604C>G | CA369653446 | CLCN1 | c.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 | |
7 | g.143351604C>T | CA369653447 | CLCN1 | c.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 | |
7 | g.143351605C>A | CA458542297 | CLCN1 | c.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 | |
7 | g.143351605C>G | CA458542298 | CLCN1 | c.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 | |
7 | g.143351605C>T | CA458542299 | CLCN1 | c.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 |
7 | g.143351606A= | CA1748898240 | CLCN1 | c.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= | |
7 | g.143351606A>C | CA369653448 | CLCN1 | c.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 | |
7 | g.143351606A>G | CA369653449 | CLCN1 | c.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 |
7 | g.143351606A>T | CA369653450 | CLCN1 | c.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 | |
7 | g.143351607T>A | CA369653451 | CLCN1 | c.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 | |
7 | g.143351607T>C | CA369653453 | CLCN1 | c.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 |
7 | g.143351607T>G | CA369653452 | CLCN1 | c.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 | |
7 | g.143351607T= | CA1748898241 | CLCN1 | c.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= | |
7 | g.143351608T>A | CA458542300 | CLCN1 | c.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 |
7 | g.143351608T>C | CA458542301 | CLCN1 | c.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 |
7 | g.143351608T>G | CA369653454 | CLCN1 | c.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 | |
7 | g.143351608T= | CA1748898242 | CLCN1 | c.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= | |
7 | g.143351609G>A | CA4537754 | CLCN1 | c.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 |
7 | g.143351609G>C | CA369653455 | CLCN1 | c.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 | |
7 | g.143351609G= | CA1748898243 | CLCN1 | c.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= | |
7 | g.143351609G>T | CA369653456 | CLCN1 | c.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 | |
7 | g.143351610del | CA2740094941 | CLCN1 | c.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 |
7 | g.143351610A>C | CA369653457 | CLCN1 | c.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 | |
7 | g.143351610A>G | CA369653459 | CLCN1 | c.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 | |
7 | g.143351610A>T | CA369653458 | CLCN1 | c.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 | |
7 | g.143351611G>A | CA458542302 | CLCN1 | c.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 |
7 | g.143351611G>C | CA369653460 | CLCN1 | c.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 |
7 | g.143351611G= | CA1748898244 | CLCN1 | c.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= | |
7 | g.143351611G>T | CA369653461 | CLCN1 | c.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 | |
7 | g.143351612G>A | CA369653462 | CLCN1 | c.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 | |
7 | g.143351612G>C | CA369653463 | CLCN1 | c.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 | |
7 | g.143351612G>T | CA369653464 | CLCN1 | c.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 | |
7 | g.143351613G>A | CA369653465 | CLCN1 | c.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 |
7 | g.143351613G>C | CA369653466 | CLCN1 | c.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 | |
7 | g.143351613G= | CA1748898245 | CLCN1 | c.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= | |
7 | g.143351613G>T | CA369653467 | CLCN1 | c.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 | |
7 | g.143351614G>A | CA168231401 | CLCN1 | c.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 |
7 | g.143351614G>C | CA458542303 | CLCN1 | c.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 |
7 | g.143351614G= | CA1748898246 | CLCN1 | c.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= | |
7 | g.143351614G>T | CA458542304 | CLCN1 | c.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 | |
7 | g.143351615C>A | CA369653468 | CLCN1 | c.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 | |
7 | g.143351615C>G | CA369653469 | CLCN1 | c.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 | |
7 | g.143351615C>T | CA369653470 | CLCN1 | c.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 |
7 | g.143351616A>C | CA369653473 | CLCN1 | c.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 | |
7 | g.143351616A>G | CA369653472 | CLCN1 | c.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 | |
7 | g.143351616A>T | CA369653471 | CLCN1 | c.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 | |
7 | g.143351617C>A | CA369653474 | CLCN1 | c.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 | |
7 | g.143351617C>G | CA369653475 | CLCN1 | c.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 | |
7 | g.143351617C>T | CA458542305 | CLCN1 | c.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 | |
7 | g.143351618A>C | CA369653476 | CLCN1 | c.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 | |
7 | g.143351618A>G | CA369653477 | CLCN1 | c.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 | |
7 | g.143351618A>T | CA369653478 | CLCN1 | c.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 | |
7 | g.143351619C>A | CA369653479 | CLCN1 | c.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 | |
7 | g.143351619C= | CA1748898247 | CLCN1 | c.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= | |
7 | g.143351619C>G | CA4537755 | CLCN1 | c.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 |
7 | g.143351619C>T | CA369653480 | CLCN1 | c.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 | |
7 | g.143351620C>A | CA4537756 | CLCN1 | c.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 |
7 | g.143351620C= | CA1748898248 | CLCN1 | c.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= | |
7 | g.143351620C>G | CA458542306 | CLCN1 | c.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 |
7 | g.143351620C>T | CA458542307 | CLCN1 | c.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 | |
7 | g.143351621A= | CA1748898249 | CLCN1 | c.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= | |
7 | g.143351621A>C | CA369653481 | CLCN1 | c.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 | |
7 | g.143351621A>G | CA369653482 | CLCN1 | c.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 |
7 | g.143351621A>T | CA369653483 | CLCN1 | c.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 | |
7 | g.143351622A>C | CA369653486 | CLCN1 | c.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 |
7 | g.143351622A>G | CA369653485 | CLCN1 | c.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 | |
7 | g.143351622A>T | CA369653484 | CLCN1 | c.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 | |
7 | g.143351623G>A | CA4537757 | CLCN1 | c.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 |
7 | g.143351623G>C | CA369653487 | CLCN1 | c.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 | |
7 | g.143351623G= | CA1748898250 | CLCN1 | c.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= | |
7 | g.143351623G>T | CA369653488 | CLCN1 | c.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 |
7 | g.143351624T>A | CA369653489 | CLCN1 | c.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 | |
7 | g.143351624T>C | CA369653490 | CLCN1 | c.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 | |
7 | g.143351624T>G | CA369653491 | CLCN1 | c.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 | |
7 | g.143351625C>A | CA369653492 | CLCN1 | c.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 | |
7 | g.143351625C= | CA1748898251 | CLCN1 | c.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= | |
7 | g.143351625C>G | CA369653493 | CLCN1 | c.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 | |
7 | g.143351625C>T | CA369653494 | CLCN1 | c.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 |
7 | g.143351626T>A | CA458542310 | CLCN1 | c.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 | |
7 | g.143351626T>C | CA458542308 | CLCN1 | c.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 | |
7 | g.143351626T>G | CA458542309 | CLCN1 | c.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 | |
7 | g.143351627G>A | CA369653495 | CLCN1 | c.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 | |
7 | g.143351627G>C | CA369653496 | CLCN1 | c.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 | |
7 | g.143351627G>T | CA369653497 | CLCN1 | c.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 | |
7 | g.143351628G>A | CA168231410 | CLCN1 | c.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 |
7 | g.143351628G>C | CA369653499 | CLCN1 | c.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 | |
7 | g.143351628G= | CA1748898252 | CLCN1 | c.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= | |
7 | g.143351628G>T | CA369653498 | CLCN1 | c.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 |
7 | g.143351629G>A | CA458542311 | CLCN1 | c.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 | |
7 | g.143351629G>C | CA458542312 | CLCN1 | c.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 | |
7 | g.143351629G>T | CA458542313 | CLCN1 | c.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 | |
7 | g.143351629_143351630delinsTT | CA645545735 | CLCN1 | c.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 |
7 | g.143351630G>A | CA369653500 | CLCN1 | c.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 |
7 | g.143351630G>C | CA369653501 | CLCN1 | c.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 | |
7 | g.143351630G= | CA1748898253 | CLCN1 | c.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= | |
7 | g.143351630G>T | CA369653502 | CLCN1 | c.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 | |
7 | g.143351631T>A | CA369653503 | CLCN1 | c.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 | |
7 | g.143351631T>C | CA369653504 | CLCN1 | c.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 | |
7 | g.143351631T>G | CA369653505 | CLCN1 | c.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 | |
7 | g.143351632G>A | CA458542314 | CLCN1 | c.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 |
7 | g.143351632G>C | CA458542315 | CLCN1 | c.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 | |
7 | g.143351632G>T | CA458542316 | CLCN1 | c.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 | |
7 | g.143351633C>A | CA369653507 | CLCN1 | c.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 | |
7 | g.143351633C= | CA1748898254 | CLCN1 | c.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= | |
7 | g.143351633C>G | CA369653506 | CLCN1 | c.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 | |
7 | g.143351633C>T | CA16043424 | CLCN1 | c.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 |
7 | g.143351634A>C | CA369653508 | CLCN1 | c.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 | |
7 | g.143351634A>G | CA369653509 | CLCN1 | c.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 |
7 | g.143351634A>T | CA369653510 | CLCN1 | c.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 | |
7 | g.143351635G>A | CA458542317 | CLCN1 | c.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 | |
7 | g.143351635G>C | CA369653511 | CLCN1 | c.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 |
7 | g.143351635G= | CA1748898255 | CLCN1 | c.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= | |
7 | g.143351635G>T | CA369653512 | CLCN1 | c.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 | |
7 | g.143351636C>A | CA369653513 | CLCN1 | c.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 | |
7 | g.143351636C= | CA1748898256 | CLCN1 | c.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= | |
7 | g.143351636C>G | CA369653515 | CLCN1 | c.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 |
7 | g.143351636C>T | CA369653514 | CLCN1 | c.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 |
7 | g.143351637_143351639del | CA2580077631 | CLCN1 | c.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 |
7 | g.143351637T>A | CA369653516 | CLCN1 | c.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 | |
7 | g.143351637T>C | CA369653517 | CLCN1 | c.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 |
7 | g.143351637T>G | CA369653518 | CLCN1 | c.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 | |
7 | g.143351637T= | CA1748898257 | CLCN1 | c.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= | |
7 | g.143351638C>A | CA458542318 | CLCN1 | c.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 | |
7 | g.143351638C>G | CA458542319 | CLCN1 | c.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 | |
7 | g.143351638C>T | CA458542320 | CLCN1 | c.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 |
7 | g.143351639C>A | CA369653519 | CLCN1 | c.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 | |
7 | g.143351639C= | CA1748898258 | CLCN1 | c.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= | |
7 | g.143351639C>G | CA369653520 | CLCN1 | c.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 | |
7 | g.143351639C>T | CA369653521 | CLCN1 | c.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 |
7 | g.143351640G>A | CA4537758 | CLCN1 | c.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 |
7 | g.143351640G>C | CA369653522 | CLCN1 | c.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 | |
7 | g.143351640G= | CA1748898259 | CLCN1 | c.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= | |
7 | g.143351640G>T | CA369653523 | CLCN1 | c.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 |
7 | g.143351641C>A | CA458542323 | CLCN1 | c.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 | |
7 | g.143351641C>G | CA458542322 | CLCN1 | c.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 | |
7 | g.143351641C>T | CA458542321 | CLCN1 | c.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 |