Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.143321750G>ACA369684451CLCN1c.598G>A (p.Gly200Arg)
c.366G>A
c.52G>A (p.Gly18Arg)
c.56G>A
n.56G>A
n.685G>A
c.305G>A (p.Trp102Ter)
n.700G>A
 ClinVar dbSNP gnomAD v4
7g.143321750G>CCA369684452CLCN1c.598G>C (p.Gly200Arg)
c.366G>C
c.52G>C (p.Gly18Arg)
c.56G>C
n.56G>C
n.685G>C
c.305G>C (p.Trp102Ser)
n.700G>C
7g.143321750G=CA1748881713CLCN1c.598G= (p.Gly200=)
c.366G=
c.52G= (p.Gly18=)
c.56G=
n.56G=
n.685G=
c.305G= (p.Trp102=)
n.700G=
7g.143321750G>TCA369684453CLCN1c.598G>T (p.Gly200Trp)
c.366G>T
c.52G>T (p.Gly18Trp)
c.56G>T
n.56G>T
n.685G>T
c.305G>T (p.Trp102Leu)
n.700G>T
7g.143321753dupCA2695208680CLCN1c.601dup (p.Val201GlyfsTer?)
c.369dup
c.55dup (p.Val19GlyfsTer?)
c.59dup
n.59dup
n.688dup
c.308dup (p.Cys104LeufsTer3)
n.703dup
7g.143321751G>ACA4537012CLCN1c.599G>A (p.Gly200Glu)
c.367G>A
c.53G>A (p.Gly18Glu)
c.57G>A
n.57G>A
n.686G>A
c.306G>A (p.Trp102Ter)
n.701G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.143321751G>CCA369684459CLCN1c.599G>C (p.Gly200Ala)
c.367G>C
c.53G>C (p.Gly18Ala)
c.57G>C
n.57G>C
n.686G>C
c.306G>C (p.Trp102Cys)
n.701G>C
 COSMIC
7g.143321751G=CA1748881717CLCN1c.599G= (p.Gly200=)
c.367G=
c.53G= (p.Gly18=)
c.57G=
n.57G=
n.686G=
c.306G= (p.Trp102=)
n.701G=
7g.143321751G>TCA369684454CLCN1c.599G>T (p.Gly200Val)
c.367G>T
c.53G>T (p.Gly18Val)
c.57G>T
n.57G>T
n.686G>T
c.306G>T (p.Trp102Cys)
n.701G>T
 COSMIC
7g.143321752G>ACA458542098CLCN1c.600G>A (p.Gly200=)
c.368G>A
c.54G>A (p.Gly18=)
c.58G>A
n.58G>A
n.687G>A
c.307G>A (p.Gly103Ser)
n.702G>A
 gnomAD v4
7g.143321752G>CCA458542099CLCN1c.600G>C (p.Gly200=)
c.368G>C
c.54G>C (p.Gly18=)
c.58G>C
n.58G>C
n.687G>C
c.307G>C (p.Gly103Arg)
n.702G>C
7g.143321752G>TCA458542100CLCN1c.600G>T (p.Gly200=)
c.368G>T
c.54G>T (p.Gly18=)
c.58G>T
n.58G>T
n.687G>T
c.307G>T (p.Gly103Cys)
n.702G>T
7g.143321753G>ACA4537013CLCN1c.601G>A (p.Val201Ile)
c.369G>A
c.55G>A (p.Val19Ile)
c.59G>A
n.59G>A
n.688G>A
c.308G>A (p.Gly103Asp)
n.703G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.143321753G>CCA369684464CLCN1c.601G>C (p.Val201Leu)
c.369G>C
c.55G>C (p.Val19Leu)
c.59G>C
n.59G>C
n.688G>C
c.308G>C (p.Gly103Ala)
n.703G>C
7g.143321753G=CA1748881722CLCN1c.601G= (p.Val201=)
c.369G=
c.55G= (p.Val19=)
c.59G=
n.59G=
n.688G=
c.308G= (p.Gly103=)
n.703G=
7g.143321753G>TCA369684465CLCN1c.601G>T (p.Val201Phe)
c.369G>T
c.55G>T (p.Val19Phe)
c.59G>T
n.59G>T
n.688G>T
c.308G>T (p.Gly103Val)
n.703G>T
 dbSNP gnomAD v4
7g.143321754T>ACA369684466CLCN1c.602T>A (p.Val201Asp)
c.370T>A
c.56T>A (p.Val19Asp)
c.60T>A
n.60T>A
n.689T>A
c.309T>A (p.Gly103=)
n.704T>A
7g.143321754T>CCA369684467CLCN1c.602T>C (p.Val201Ala)
c.370T>C
c.56T>C (p.Val19Ala)
c.60T>C
n.60T>C
n.689T>C
c.309T>C (p.Gly103=)
n.704T>C
 dbSNP
7g.143321754T>GCA369684469CLCN1c.602T>G (p.Val201Gly)
c.370T>G
c.56T>G (p.Val19Gly)
c.60T>G
n.60T>G
n.689T>G
c.309T>G (p.Gly103=)
n.704T>G
7g.143321755dupCA2740094895CLCN1c.603dup (p.Val202CysfsTer?)
c.371dup
c.57dup (p.Val20CysfsTer?)
c.61dup
n.61dup
n.690dup
c.310dup (p.Cys104LeufsTer3)
n.705dup
 ClinVar
7g.143321755T>ACA458542103CLCN1c.603T>A (p.Val201=)
c.371T>A
c.57T>A (p.Val19=)
c.61T>A
n.61T>A
n.690T>A
c.310T>A (p.Cys104Ser)
n.705T>A
7g.143321755T>CCA458542104CLCN1c.603T>C (p.Val201=)
c.371T>C
c.57T>C (p.Val19=)
c.61T>C
n.61T>C
n.690T>C
c.310T>C (p.Cys104Arg)
n.705T>C
7g.143321755T>GCA458542105CLCN1c.603T>G (p.Val201=)
c.371T>G
c.57T>G (p.Val19=)
c.61T>G
n.61T>G
n.690T>G
c.310T>G (p.Cys104Gly)
n.705T>G
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

Number of alleles fetched