| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143321310_143321395del | CA2740094892 | CLCN1 | c.434-55_464del c.202-55_232del n.521-55_551del c.141-55_171del n.536-55_566del | ClinVar dbSNP |
| 7 | g.143321362_143321367delinsCAGCCT | CA1748888026 | CLCN1 | c.434-3_436delinsCAGCCT c.202-3_204delinsCAGCCT n.521-3_523delinsCAGCCT c.141-3_143delinsCAGCCT n.536-3_538delinsCAGCCT | |
| 7 | g.143321364_143321368del | CA913189917 | CLCN1 | c.434-1_437del c.202-1_205del n.521-1_524del c.141-1_144del n.536-1_539del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143321366C>A | CA458541952 | CLCN1 | c.435C>A (p.Ala145=) c.203C>A n.522C>A c.142C>A (p.Leu48Ile) n.537C>A | dbSNP gnomAD v4 |
| 7 | g.143321366C= | CA1748888029 | CLCN1 | c.435C= (p.Ala145=) c.203C= n.522C= c.142C= (p.Leu48=) n.537C= | dbSNP |
| 7 | g.143321366C>G | CA458541953 | CLCN1 | c.435C>G (p.Ala145=) c.203C>G n.522C>G c.142C>G (p.Leu48Val) n.537C>G | |
| 7 | g.143321366C>T | CA168255538 | CLCN1 | c.435C>T (p.Ala145=) c.203C>T n.522C>T c.142C>T (p.Leu48=) n.537C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143321367T>A | CA369683288 | CLCN1 | c.436T>A (p.Tyr146Asn) c.204T>A n.523T>A c.143T>A (p.Leu48Gln) n.538T>A | |
| 7 | g.143321367T>C | CA369683286 | CLCN1 | c.436T>C (p.Tyr146His) c.204T>C n.523T>C c.143T>C (p.Leu48Pro) n.538T>C | dbSNP gnomAD v4 |
| 7 | g.143321367T>G | CA369683282 | CLCN1 | c.436T>G (p.Tyr146Asp) c.204T>G n.523T>G c.143T>G (p.Leu48Arg) n.538T>G | |
| 7 | g.143321367T= | CA1748888032 | CLCN1 | c.436T= (p.Tyr146=) c.204T= n.523T= c.143T= (p.Leu48=) n.538T= | dbSNP |
| 7 | g.143321368A= | CA1748888034 | CLCN1 | c.437A= (p.Tyr146=) c.205A= n.524A= c.144A= (p.Leu48=) n.539A= | dbSNP |
| 7 | g.143321368A>C | CA369683293 | CLCN1 | c.437A>C (p.Tyr146Ser) c.205A>C n.524A>C c.144A>C (p.Leu48=) n.539A>C | |
| 7 | g.143321368A>G | CA369683295 | CLCN1 | c.437A>G (p.Tyr146Cys) c.205A>G n.524A>G c.144A>G (p.Leu48=) n.539A>G | ClinVar dbSNP |
| 7 | g.143321368A>T | CA369683297 | CLCN1 | c.437A>T (p.Tyr146Phe) c.205A>T n.524A>T c.144A>T (p.Leu48=) n.539A>T | |
| 7 | g.143321369del | CA2967173821 | CLCN1 | c.438del (p.Tyr146Ter) c.206del n.525del c.145del (p.Gln49LysfsTer?) n.540del | |
| 7 | g.143321369C>A | CA369683300 | CLCN1 | c.438C>A (p.Tyr146Ter) c.206C>A n.525C>A c.145C>A (p.Gln49Lys) n.540C>A | |
| 7 | g.143321369C>G | CA369683301 | CLCN1 | c.438C>G (p.Tyr146Ter) c.206C>G n.525C>G c.145C>G (p.Gln49Glu) n.540C>G | |
| 7 | g.143321369C>T | CA458541957 | CLCN1 | c.438C>T (p.Tyr146=) c.206C>T n.525C>T c.145C>T (p.Gln49Ter) n.540C>T | |
| 7 | g.143321370A= | CA1748888036 | CLCN1 | c.439A= (p.Lys147=) c.207A= n.526A= c.146A= (p.Gln49=) n.541A= | dbSNP |
| 7 | g.143321370A>C | CA4536956 | CLCN1 | c.439A>C (p.Lys147Gln) c.207A>C n.526A>C c.146A>C (p.Gln49Pro) n.541A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.143321370A>G | CA369683305 | CLCN1 | c.439A>G (p.Lys147Glu) c.207A>G n.526A>G c.146A>G (p.Gln49Arg) n.541A>G | |
| 7 | g.143321370A>T | CA369683307 | CLCN1 | c.439A>T (p.Lys147Ter) c.207A>T n.526A>T c.146A>T (p.Gln49Leu) n.541A>T | |
| 7 | g.143321371A= | CA1748888040 | CLCN1 | c.440A= (p.Lys147=) c.208A= n.527A= c.147A= (p.Gln49=) n.542A= | dbSNP |
| 7 | g.143321371A>C | CA369683308 | CLCN1 | c.440A>C (p.Lys147Thr) c.208A>C n.527A>C c.147A>C (p.Gln49His) n.542A>C | |
| 7 | g.143321371A>G | CA168255566 | CLCN1 | c.440A>G (p.Lys147Arg) c.208A>G n.527A>G c.147A>G (p.Gln49=) n.542A>G | dbSNP |
| 7 | g.143321371A>T | CA369683309 | CLCN1 | c.440A>T (p.Lys147Met) c.208A>T n.527A>T c.147A>T (p.Gln49His) n.542A>T | |
| 7 | g.143321372G>A | CA458541958 | CLCN1 | c.441G>A (p.Lys147=) c.209G>A n.528G>A c.148G>A (p.Val50Met) n.543G>A | ClinVar dbSNP |
| 7 | g.143321372G>C | CA369683311 | CLCN1 | c.441G>C (p.Lys147Asn) c.209G>C n.528G>C c.148G>C (p.Val50Leu) n.543G>C | |
| 7 | g.143321372G= | CA3152909324 | CLCN1 | c.441G= (p.Lys147=) c.209G= n.528G= c.148G= (p.Val50=) n.543G= | dbSNP |
| 7 | g.143321372G>T | CA369683314 | CLCN1 | c.441G>T (p.Lys147Asn) c.209G>T n.528G>T c.148G>T (p.Val50Leu) n.543G>T | |
| 7 | g.143321373T>A | CA369683332 | CLCN1 | c.442T>A (p.Trp148Arg) c.210T>A n.529T>A c.149T>A (p.Val50Glu) n.544T>A | |
| 7 | g.143321373T>C | CA369683321 | CLCN1 | c.442T>C (p.Trp148Arg) c.210T>C n.529T>C c.149T>C (p.Val50Ala) n.544T>C | ClinVar dbSNP gnomAD v2 |
| 7 | g.143321373T>G | CA369683329 | CLCN1 | c.442T>G (p.Trp148Gly) c.210T>G n.529T>G c.149T>G (p.Val50Gly) n.544T>G | |
| 7 | g.143321373T= | CA1748888046 | CLCN1 | c.442T= (p.Trp148=) c.210T= n.529T= c.149T= (p.Val50=) n.544T= | dbSNP |
| 7 | g.143321374G>A | CA369683333 | CLCN1 | c.443G>A (p.Trp148Ter) c.211G>A n.530G>A c.150G>A (p.Val50=) n.545G>A | ClinVar dbSNP |
| 7 | g.143321374G>C | CA369683335 | CLCN1 | c.443G>C (p.Trp148Ser) c.211G>C n.530G>C c.150G>C (p.Val50=) n.545G>C | |
| 7 | g.143321374G= | CA3149180893 | CLCN1 | c.443G= (p.Trp148=) c.211G= n.530G= c.150G= (p.Val50=) n.545G= | dbSNP |
| 7 | g.143321374G>T | CA369683339 | CLCN1 | c.443G>T (p.Trp148Leu) c.211G>T n.530G>T c.150G>T (p.Val50=) n.545G>T | COSMIC |
| 7 | g.143321375dup | CA458541959 | CLCN1 | c.444dup (p.Ser149ValfsTer?) c.212dup n.531dup c.151dup (p.Val51GlyfsTer22) n.546dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143321375G>A | CA369683342 | CLCN1 | c.444G>A (p.Trp148Ter) c.212G>A n.531G>A c.151G>A (p.Val51Ile) n.546G>A | COSMIC |
| 7 | g.143321375G>C | CA369683344 | CLCN1 | c.444G>C (p.Trp148Cys) c.212G>C n.531G>C c.151G>C (p.Val51Leu) n.546G>C | |
| 7 | g.143321375G>T | CA369683348 | CLCN1 | c.444G>T (p.Trp148Cys) c.212G>T n.531G>T c.151G>T (p.Val51Phe) n.546G>T | |
| 7 | g.143321376T>A | CA369683351 | CLCN1 | c.445T>A (p.Ser149Thr) c.213T>A n.532T>A c.152T>A (p.Val51Asp) n.547T>A | |
| 7 | g.143321376T>C | CA369683354 | CLCN1 | c.445T>C (p.Ser149Pro) c.213T>C n.532T>C c.152T>C (p.Val51Ala) n.547T>C | |
| 7 | g.143321376T>G | CA369683355 | CLCN1 | c.445T>G (p.Ser149Ala) c.213T>G n.532T>G c.152T>G (p.Val51Gly) n.547T>G | |
| 7 | g.143321377C>A | CA369683358 | CLCN1 | c.446C>A (p.Ser149Tyr) c.214C>A n.533C>A c.153C>A (p.Val51=) n.548C>A | |
| 7 | g.143321377C= | CA1748888052 | CLCN1 | c.446C= (p.Ser149=) c.214C= n.533C= c.153C= (p.Val51=) n.548C= | dbSNP |
| 7 | g.143321377C>G | CA369683360 | CLCN1 | c.446C>G (p.Ser149Cys) c.214C>G n.533C>G c.153C>G (p.Val51=) n.548C>G | |
| 7 | g.143321377C>T | CA4536957 | CLCN1 | c.446C>T (p.Ser149Phe) c.214C>T n.533C>T c.153C>T (p.Val51=) n.548C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |