Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.143321720G>A | CA4537004 | CLCN1 | c.568G>A (p.Gly190Arg) c.336G>A c.22G>A (p.Gly8Arg) c.26G>A n.26G>A n.655G>A c.275G>A (p.Trp92Ter) n.670G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143321720G>C | CA369684235 | CLCN1 | c.568G>C (p.Gly190Arg) c.336G>C c.22G>C (p.Gly8Arg) c.26G>C n.26G>C n.655G>C c.275G>C (p.Trp92Ser) n.670G>C | |
7 | g.143321720G= | CA1748881632 | CLCN1 | c.568G= (p.Gly190=) c.336G= c.22G= (p.Gly8=) c.26G= n.26G= n.655G= c.275G= (p.Trp92=) n.670G= | |
7 | g.143321720G>T | CA4537003 | CLCN1 | c.568G>T (p.Gly190Ter) c.336G>T c.22G>T (p.Gly8Ter) c.26G>T n.26G>T n.655G>T c.275G>T (p.Trp92Leu) n.670G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143321720_143321721delinsGG | CA1748881635 | CLCN1 | c.568_569delinsGG (p.Gly190=) c.336_337delinsGG c.22_23delinsGG (p.Gly8=) c.26_27delinsGG n.26_27delinsGG n.655_656delinsGG c.275_276delinsGG (p.Trp92=) n.670_671delinsGG | |
7 | g.143321720_143321721delinsTC | CA276131 | CLCN1 | c.568_569delinsTC (p.Gly190Ser) c.336_337delinsTC c.22_23delinsTC (p.Gly8Ser) c.26_27delinsTC n.26_27delinsTC n.655_656delinsTC c.275_276delinsTC (p.Trp92Phe) n.670_671delinsTC | ClinVar dbSNP |
7 | g.143321721del | CA2579050561 | CLCN1 | c.569del (p.Gly190GlufsTer5) c.337del c.23del (p.Gly8GlufsTer5) c.27del n.27del n.656del c.276del (p.Trp92Ter) n.671del | |
7 | g.143321721G>A | CA369684243 | CLCN1 | c.569G>A (p.Gly190Glu) c.337G>A c.23G>A (p.Gly8Glu) c.27G>A n.27G>A n.656G>A c.276G>A (p.Trp92Ter) n.671G>A | |
7 | g.143321721G>C | CA4537005 | CLCN1 | c.569G>C (p.Gly190Ala) c.337G>C c.23G>C (p.Gly8Ala) c.27G>C n.27G>C n.656G>C c.276G>C (p.Trp92Cys) n.671G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143321721G= | CA1748881640 | CLCN1 | c.569G= (p.Gly190=) c.337G= c.23G= (p.Gly8=) c.27G= n.27G= n.656G= c.276G= (p.Trp92=) n.671G= | |
7 | g.143321721G>T | CA369684245 | CLCN1 | c.569G>T (p.Gly190Val) c.337G>T c.23G>T (p.Gly8Val) c.27G>T n.27G>T n.656G>T c.276G>T (p.Trp92Cys) n.671G>T | ClinVar dbSNP |
7 | g.143321722A>C | CA458542063 | CLCN1 | c.570A>C (p.Gly190=) c.338A>C c.24A>C (p.Gly8=) c.28A>C n.28A>C n.657A>C c.277A>C (p.Asn93His) n.672A>C | |
7 | g.143321722A>G | CA458542064 | CLCN1 | c.570A>G (p.Gly190=) c.338A>G c.24A>G (p.Gly8=) c.28A>G n.28A>G n.657A>G c.277A>G (p.Asn93Asp) n.672A>G | |
7 | g.143321722A>T | CA458542065 | CLCN1 | c.570A>T (p.Gly190=) c.338A>T c.24A>T (p.Gly8=) c.28A>T n.28A>T n.657A>T c.277A>T (p.Asn93Tyr) n.672A>T | |
7 | g.143321723A>C | CA369684250 | CLCN1 | c.571A>C (p.Ile191Leu) c.339A>C c.25A>C (p.Ile9Leu) c.29A>C n.29A>C n.658A>C c.278A>C (p.Asn93Thr) n.673A>C | |
7 | g.143321723A>G | CA369684253 | CLCN1 | c.571A>G (p.Ile191Val) c.339A>G c.25A>G (p.Ile9Val) c.29A>G n.29A>G n.658A>G c.278A>G (p.Asn93Ser) n.673A>G | |
7 | g.143321723A>T | CA369684256 | CLCN1 | c.571A>T (p.Ile191Phe) c.339A>T c.25A>T (p.Ile9Phe) c.29A>T n.29A>T n.658A>T c.278A>T (p.Asn93Ile) n.673A>T | ClinVar dbSNP |
7 | g.143321724T>A | CA369684260 | CLCN1 | c.572T>A (p.Ile191Asn) c.340T>A c.26T>A (p.Ile9Asn) c.30T>A n.30T>A n.659T>A c.279T>A (p.Asn93Lys) n.674T>A | |
7 | g.143321724T>C | CA4537006 | CLCN1 | c.572T>C (p.Ile191Thr) c.340T>C c.26T>C (p.Ile9Thr) c.30T>C n.30T>C n.659T>C c.279T>C (p.Asn93=) n.674T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143321724T>G | CA369684263 | CLCN1 | c.572T>G (p.Ile191Ser) c.340T>G c.26T>G (p.Ile9Ser) c.30T>G n.30T>G n.659T>G c.279T>G (p.Asn93Lys) n.674T>G | |
7 | g.143321724T= | CA1748881643 | CLCN1 | c.572T= (p.Ile191=) c.340T= c.26T= (p.Ile9=) c.30T= n.30T= n.659T= c.279T= (p.Asn93=) n.674T= | |
7 | g.143321725C>A | CA4537007 | CLCN1 | c.573C>A (p.Ile191=) c.341C>A c.27C>A (p.Ile9=) c.31C>A n.31C>A n.660C>A c.280C>A (p.Pro94Thr) n.675C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143321725C= | CA1748881649 | CLCN1 | c.573C= (p.Ile191=) c.341C= c.27C= (p.Ile9=) c.31C= n.31C= n.660C= c.280C= (p.Pro94=) n.675C= | |
7 | g.143321725C>G | CA369684269 | CLCN1 | c.573C>G (p.Ile191Met) c.341C>G c.27C>G (p.Ile9Met) c.31C>G n.31C>G n.660C>G c.280C>G (p.Pro94Ala) n.675C>G | |
7 | g.143321725C>T | CA458542069 | CLCN1 | c.573C>T (p.Ile191=) c.341C>T c.27C>T (p.Ile9=) c.31C>T n.31C>T n.660C>T c.280C>T (p.Pro94Ser) n.675C>T | |
7 | g.143321726C>A | CA369684272 | CLCN1 | c.574C>A (p.Pro192Thr) c.342C>A c.28C>A (p.Pro10Thr) c.32C>A n.32C>A n.661C>A c.281C>A (p.Pro94His) n.676C>A | |
7 | g.143321726C= | CA1748881653 | CLCN1 | c.574C= (p.Pro192=) c.342C= c.28C= (p.Pro10=) c.32C= n.32C= n.661C= c.281C= (p.Pro94=) n.676C= | |
7 | g.143321726C>G | CA369684274 | CLCN1 | c.574C>G (p.Pro192Ala) c.342C>G c.28C>G (p.Pro10Ala) c.32C>G n.32C>G n.661C>G c.281C>G (p.Pro94Arg) n.676C>G | |
7 | g.143321726C>T | CA4537008 | CLCN1 | c.574C>T (p.Pro192Ser) c.342C>T c.28C>T (p.Pro10Ser) c.32C>T n.32C>T n.661C>T c.281C>T (p.Pro94Leu) n.676C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.143321727C>A | CA369684277 | CLCN1 | c.575C>A (p.Pro192His) c.343C>A c.29C>A (p.Pro10His) c.33C>A n.33C>A n.662C>A c.282C>A (p.Pro94=) n.677C>A | |
7 | g.143321727C>G | CA369684281 | CLCN1 | c.575C>G (p.Pro192Arg) c.343C>G c.29C>G (p.Pro10Arg) c.33C>G n.33C>G n.662C>G c.282C>G (p.Pro94=) n.677C>G | |
7 | g.143321727C>T | CA369684284 | CLCN1 | c.575C>T (p.Pro192Leu) c.343C>T c.29C>T (p.Pro10Leu) c.33C>T n.33C>T n.662C>T c.282C>T (p.Pro94=) n.677C>T | COSMIC |
7 | g.143321728C>A | CA458542074 | CLCN1 | c.576C>A (p.Pro192=) c.344C>A c.30C>A (p.Pro10=) c.34C>A n.34C>A n.663C>A c.283C>A (p.Arg95=) n.678C>A | |
7 | g.143321728C= | CA1748881656 | CLCN1 | c.576C= (p.Pro192=) c.344C= c.30C= (p.Pro10=) c.34C= n.34C= n.663C= c.283C= (p.Arg95=) n.678C= | |
7 | g.143321728C>G | CA458542075 | CLCN1 | c.576C>G (p.Pro192=) c.344C>G c.30C>G (p.Pro10=) c.34C>G n.34C>G n.663C>G c.283C>G (p.Arg95Gly) n.678C>G | |
7 | g.143321728C>T | CA4537009 | CLCN1 | c.576C>T (p.Pro192=) c.344C>T c.30C>T (p.Pro10=) c.34C>T n.34C>T n.663C>T c.283C>T (p.Arg95Ter) n.678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.143321729G>A | CA341547 | CLCN1 | c.577G>A (p.Glu193Lys) c.345G>A c.31G>A (p.Glu11Lys) c.35G>A n.35G>A n.664G>A c.284G>A (p.Arg95Gln) n.679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.143321729G>C | CA369684293 | CLCN1 | c.577G>C (p.Glu193Gln) c.345G>C c.31G>C (p.Glu11Gln) c.35G>C n.35G>C n.664G>C c.284G>C (p.Arg95Pro) n.679G>C | |
7 | g.143321729G= | CA1748881661 | CLCN1 | c.577G= (p.Glu193=) c.345G= c.31G= (p.Glu11=) c.35G= n.35G= n.664G= c.284G= (p.Arg95=) n.679G= | |
7 | g.143321729G>T | CA369684295 | CLCN1 | c.577G>T (p.Glu193Ter) c.345G>T c.31G>T (p.Glu11Ter) c.35G>T n.35G>T n.664G>T c.284G>T (p.Arg95Leu) n.679G>T | |
7 | g.143321730A= | CA1748881667 | CLCN1 | c.578A= (p.Glu193=) c.346A= c.32A= (p.Glu11=) c.36A= n.36A= n.665A= c.285A= (p.Arg95=) n.680A= | |
7 | g.143321730A>C | CA369684299 | CLCN1 | c.578A>C (p.Glu193Ala) c.346A>C c.32A>C (p.Glu11Ala) c.36A>C n.36A>C n.665A>C c.285A>C (p.Arg95=) n.680A>C | ClinVar dbSNP |
7 | g.143321730A>G | CA369684301 | CLCN1 | c.578A>G (p.Glu193Gly) c.346A>G c.32A>G (p.Glu11Gly) c.36A>G n.36A>G n.665A>G c.285A>G (p.Arg95=) n.680A>G | |
7 | g.143321730A>T | CA369684304 | CLCN1 | c.578A>T (p.Glu193Val) c.346A>T c.32A>T (p.Glu11Val) c.36A>T n.36A>T n.665A>T c.285A>T (p.Arg95=) n.680A>T | |
7 | g.143321732del | CA645556874 | CLCN1 | c.580del (p.Met194Ter) c.348del c.34del (p.Met12Ter) c.38del n.38del n.667del c.287del (p.Asn96MetfsTer?) n.682del | COSMIC |
7 | g.143321731A>C | CA369684308 | CLCN1 | c.579A>C (p.Glu193Asp) c.347A>C c.33A>C (p.Glu11Asp) c.37A>C n.37A>C n.666A>C c.286A>C (p.Asn96His) n.681A>C | |
7 | g.143321731A>G | CA458542079 | CLCN1 | c.579A>G (p.Glu193=) c.347A>G c.33A>G (p.Glu11=) c.37A>G n.37A>G n.666A>G c.286A>G (p.Asn96Asp) n.681A>G | |
7 | g.143321731A>T | CA369684313 | CLCN1 | c.579A>T (p.Glu193Asp) c.347A>T c.33A>T (p.Glu11Asp) c.37A>T n.37A>T n.666A>T c.286A>T (p.Asn96Tyr) n.681A>T | |
7 | g.143321732A>C | CA369684316 | CLCN1 | c.580A>C (p.Met194Leu) c.348A>C c.34A>C (p.Met12Leu) c.38A>C n.38A>C n.667A>C c.287A>C (p.Asn96Thr) n.682A>C | |
7 | g.143321732A>G | CA369684319 | CLCN1 | c.580A>G (p.Met194Val) c.348A>G c.34A>G (p.Met12Val) c.38A>G n.38A>G n.667A>G c.287A>G (p.Asn96Ser) n.682A>G |