Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143321756G>ACA369684470CLCN1c.604G>A (p.Val202Ile)
c.372G>A
c.58G>A (p.Val20Ile)
c.62G>A
n.62G>A
n.691G>A
c.311G>A (p.Cys104Tyr)
n.706G>A
 dbSNP
7g.143321756G>CCA369684477CLCN1c.604G>C (p.Val202Leu)
c.372G>C
c.58G>C (p.Val20Leu)
c.62G>C
n.62G>C
n.691G>C
c.311G>C (p.Cys104Ser)
n.706G>C
7g.143321756G=CA1748881726CLCN1c.604G= (p.Val202=)
c.372G=
c.58G= (p.Val20=)
c.62G=
n.62G=
n.691G=
c.311G= (p.Cys104=)
n.706G=
7g.143321756G>TCA369684472CLCN1c.604G>T (p.Val202Phe)
c.372G>T
c.58G>T (p.Val20Phe)
c.62G>T
n.62G>T
n.691G>T
c.311G>T (p.Cys104Phe)
n.706G>T
 ClinVar gnomAD v4
7g.143321757T>ACA369684478CLCN1c.605T>A (p.Val202Asp)
c.373T>A
c.59T>A (p.Val20Asp)
c.63T>A
n.63T>A
n.692T>A
c.312T>A (p.Cys104Ter)
n.707T>A
7g.143321757T>CCA369684483CLCN1c.605T>C (p.Val202Ala)
c.373T>C
c.59T>C (p.Val20Ala)
c.63T>C
n.63T>C
n.692T>C
c.312T>C (p.Cys104=)
n.707T>C
 dbSNP gnomAD v2 gnomAD v4
7g.143321757T>GCA369684486CLCN1c.605T>G (p.Val202Gly)
c.373T>G
c.59T>G (p.Val20Gly)
c.63T>G
n.63T>G
n.692T>G
c.312T>G (p.Cys104Trp)
n.707T>G
7g.143321757T=CA1748881729CLCN1c.605T= (p.Val202=)
c.373T=
c.59T= (p.Val20=)
c.63T=
n.63T=
n.692T=
c.312T= (p.Cys104=)
n.707T=
7g.143321758C>ACA458542108CLCN1c.606C>A (p.Val202=)
c.374C>A
c.60C>A (p.Val20=)
c.64C>A
n.64C>A
n.693C>A
c.313C>A (p.Pro105Thr)
n.708C>A
 ClinVar
7g.143321758C>GCA458542110CLCN1c.606C>G (p.Val202=)
c.374C>G
c.60C>G (p.Val20=)
c.64C>G
n.64C>G
n.693C>G
c.313C>G (p.Pro105Ala)
n.708C>G
7g.143321758C>TCA458542111CLCN1c.606C>T (p.Val202=)
c.374C>T
c.60C>T (p.Val20=)
c.64C>T
n.64C>T
n.693C>T
c.313C>T (p.Pro105Ser)
n.708C>T
 gnomAD v4
7g.143321759C>ACA369684497CLCN1c.607C>A (p.Leu203Met)
c.375C>A
c.61C>A (p.Leu21Met)
c.65C>A
n.65C>A
n.694C>A
c.314C>A (p.Pro105His)
n.709C>A
 gnomAD v4
7g.143321759C>GCA369684498CLCN1c.607C>G (p.Leu203Val)
c.375C>G
c.61C>G (p.Leu21Val)
c.65C>G
n.65C>G
n.694C>G
c.314C>G (p.Pro105Arg)
n.709C>G
7g.143321759C>TCA458542112CLCN1c.607C>T (p.Leu203=)
c.375C>T
c.61C>T (p.Leu21=)
c.65C>T
n.65C>T
n.694C>T
c.314C>T (p.Pro105Leu)
n.709C>T
7g.143321760T>ACA369684500CLCN1c.608T>A (p.Leu203Gln)
c.376T>A
c.62T>A (p.Leu21Gln)
c.66T>A
n.66T>A
n.695T>A
c.315T>A (p.Pro105=)
n.710T>A
7g.143321760T>CCA369684507CLCN1c.608T>C (p.Leu203Pro)
c.376T>C
c.62T>C (p.Leu21Pro)
c.66T>C
n.66T>C
n.695T>C
c.315T>C (p.Pro105=)
n.710T>C
7g.143321760T>GCA369684512CLCN1c.608T>G (p.Leu203Arg)
c.376T>G
c.62T>G (p.Leu21Arg)
c.66T>G
n.66T>G
n.695T>G
c.315T>G (p.Pro105=)
n.710T>G
7g.143321761G>ACA458542116CLCN1c.609G>A (p.Leu203=)
c.377G>A
c.63G>A (p.Leu21=)
c.67G>A
n.67G>A
n.696G>A
c.316G>A (p.Glu106Lys)
n.711G>A
7g.143321761G>CCA458542114CLCN1c.609G>C (p.Leu203=)
c.377G>C
c.63G>C (p.Leu21=)
c.67G>C
n.67G>C
n.696G>C
c.316G>C (p.Glu106Gln)
n.711G>C
7g.143321761G>TCA458542115CLCN1c.609G>T (p.Leu203=)
c.377G>T
c.63G>T (p.Leu21=)
c.67G>T
n.67G>T
n.696G>T
c.316G>T (p.Glu106Ter)
n.711G>T
7g.143321762A>CCA369684515CLCN1c.610A>C (p.Lys204Gln)
c.378A>C
c.64A>C (p.Lys22Gln)
c.68A>C
n.68A>C
n.697A>C
c.317A>C (p.Glu106Ala)
n.712A>C
7g.143321762A>GCA369684518CLCN1c.610A>G (p.Lys204Glu)
c.378A>G
c.64A>G (p.Lys22Glu)
c.68A>G
n.68A>G
n.697A>G
c.317A>G (p.Glu106Gly)
n.712A>G
7g.143321762A>TCA369684529CLCN1c.610A>T (p.Lys204Ter)
c.378A>T
c.64A>T (p.Lys22Ter)
c.68A>T
n.68A>T
n.697A>T
c.317A>T (p.Glu106Val)
n.712A>T
7g.143321763A=CA1748881732CLCN1c.611A= (p.Lys204=)
c.379A=
c.65A= (p.Lys22=)
c.69A=
n.69A=
n.698A=
c.318A= (p.Glu106=)
n.713A=
7g.143321763A>CCA369684534CLCN1c.611A>C (p.Lys204Thr)
c.379A>C
c.65A>C (p.Lys22Thr)
c.69A>C
n.69A>C
n.698A>C
c.318A>C (p.Glu106Asp)
n.713A>C
7g.143321763A>GCA369684540CLCN1c.611A>G (p.Lys204Arg)
c.379A>G
c.65A>G (p.Lys22Arg)
c.69A>G
n.69A>G
n.698A>G
c.318A>G (p.Glu106=)
n.713A>G
7g.143321763A>TCA369684539CLCN1c.611A>T (p.Lys204Met)
c.379A>T
c.65A>T (p.Lys22Met)
c.69A>T
n.69A>T
n.698A>T
c.318A>T (p.Glu106Asp)
n.713A>T
 dbSNP gnomAD v3 gnomAD v4
7g.143321764G>ACA4537014CLCN1c.612G>A (p.Lys204=)
c.380G>A
c.66G>A (p.Lys22=)
c.70G>A
n.70G>A
n.699G>A
c.319G>A (p.Gly107Arg)
n.714G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.143321764G>CCA369684543CLCN1c.612G>C (p.Lys204Asn)
c.380G>C
c.66G>C (p.Lys22Asn)
c.70G>C
n.70G>C
n.699G>C
c.319G>C (p.Gly107Arg)
n.714G>C
7g.143321764G=CA1748881735CLCN1c.612G= (p.Lys204=)
c.380G=
c.66G= (p.Lys22=)
c.70G=
n.70G=
n.699G=
c.319G= (p.Gly107=)
n.714G=
7g.143321764G>TCA369684544CLCN1c.612G>T (p.Lys204Asn)
c.380G>T
c.66G>T (p.Lys22Asn)
c.70G>T
n.70G>T
n.699G>T
c.319G>T (p.Gly107Ter)
n.714G>T
7g.143321765G>ACA168256302CLCN1c.613G>A (p.Glu205Lys)
c.381G>A
c.67G>A (p.Glu23Lys)
c.71G>A
n.71G>A
n.700G>A
c.320G>A (p.Gly107Glu)
n.715G>A
 dbSNP gnomAD v4 COSMIC
7g.143321765G>CCA369684549CLCN1c.613G>C (p.Glu205Gln)
c.381G>C
c.67G>C (p.Glu23Gln)
c.71G>C
n.71G>C
n.700G>C
c.320G>C (p.Gly107Ala)
n.715G>C
7g.143321765G=CA1748881742CLCN1c.613G= (p.Glu205=)
c.381G=
c.67G= (p.Glu23=)
c.71G=
n.71G=
n.700G=
c.320G= (p.Gly107=)
n.715G=
7g.143321765G>TCA369684551CLCN1c.613G>T (p.Glu205Ter)
c.381G>T
c.67G>T (p.Glu23Ter)
c.71G>T
n.71G>T
n.700G>T
c.320G>T (p.Gly107Val)
n.715G>T
7g.143321766A>CCA369684555CLCN1c.614A>C (p.Glu205Ala)
c.382A>C
c.68A>C (p.Glu23Ala)
c.72A>C
n.72A>C
n.701A>C
c.321A>C (p.Gly107=)
n.716A>C
7g.143321766A>GCA369684557CLCN1c.614A>G (p.Glu205Gly)
c.382A>G
c.68A>G (p.Glu23Gly)
c.72A>G
n.72A>G
n.701A>G
c.321A>G (p.Gly107=)
n.716A>G
7g.143321766A>TCA369684560CLCN1c.614A>T (p.Glu205Val)
c.382A>T
c.68A>T (p.Glu23Val)
c.72A>T
n.72A>T
n.701A>T
c.321A>T (p.Gly107=)
n.716A>T
7g.143321767A>CCA369684564CLCN1c.615A>C (p.Glu205Asp)
c.383A>C
c.69A>C (p.Glu23Asp)
c.73A>C
n.73A>C
n.702A>C
c.322A>C (p.Ile108Leu)
n.717A>C
7g.143321767A>GCA458542121CLCN1c.615A>G (p.Glu205=)
c.383A>G
c.69A>G (p.Glu23=)
c.73A>G
n.73A>G
n.702A>G
c.322A>G (p.Ile108Val)
n.717A>G
7g.143321767A>TCA369684566CLCN1c.615A>T (p.Glu205Asp)
c.383A>T
c.69A>T (p.Glu23Asp)
c.73A>T
n.73A>T
n.702A>T
c.322A>T (p.Ile108Leu)
n.717A>T
7g.143321768T>ACA369684568CLCN1c.616T>A (p.Tyr206Asn)
c.384T>A
c.70T>A (p.Tyr24Asn)
c.74T>A
n.74T>A
n.703T>A
c.323T>A (p.Ile108Lys)
n.718T>A
7g.143321768T>CCA168256303CLCN1c.616T>C (p.Tyr206His)
c.384T>C
c.70T>C (p.Tyr24His)
c.74T>C
n.74T>C
n.703T>C
c.323T>C (p.Ile108Thr)
n.718T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.143321768T>GCA369684567CLCN1c.616T>G (p.Tyr206Asp)
c.384T>G
c.70T>G (p.Tyr24Asp)
c.74T>G
n.74T>G
n.703T>G
c.323T>G (p.Ile108Arg)
n.718T>G
7g.143321768T=CA1748881743CLCN1c.616T= (p.Tyr206=)
c.384T=
c.70T= (p.Tyr24=)
c.74T=
n.74T=
n.703T=
c.323T= (p.Ile108=)
n.718T=
7g.143321769A>CCA369684571CLCN1c.617A>C (p.Tyr206Ser)
c.385A>C
c.71A>C (p.Tyr24Ser)
c.75A>C
n.75A>C
n.704A>C
c.324A>C (p.Ile108=)
n.719A>C
7g.143321769A>GCA369684572CLCN1c.617A>G (p.Tyr206Cys)
c.385A>G
c.71A>G (p.Tyr24Cys)
c.75A>G
n.75A>G
n.704A>G
c.324A>G (p.Ile108Met)
n.719A>G
 COSMIC
7g.143321769A>TCA369684575CLCN1c.617A>T (p.Tyr206Phe)
c.385A>T
c.71A>T (p.Tyr24Phe)
c.75A>T
n.75A>T
n.704A>T
c.324A>T (p.Ile108=)
n.719A>T
7g.143321770C>ACA369684582CLCN1c.618C>A (p.Tyr206Ter)
c.386C>A
c.72C>A (p.Tyr24Ter)
c.76C>A
n.76C>A
n.705C>A
c.325C>A (p.Pro109Thr)
n.720C>A
 ClinVar dbSNP gnomAD v4
7g.143321770C=CA1748881747CLCN1c.618C= (p.Tyr206=)
c.386C=
c.72C= (p.Tyr24=)
c.76C=
n.76C=
n.705C=
c.325C= (p.Pro109=)
n.720C=

Number of alleles fetched