| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.143321737_143321741del | CA2685383196 | CLCN1 | c.585_589del (p.Lys195AsnfsTer?) c.353_357del c.39_43del (p.Lys13AsnfsTer?) c.43_47del n.43_47del n.672_676del c.292_296del (p.Asp98TyrfsTer7) n.687_691del | gnomAD v4 |
| 7 | g.143321741A= | CA1748881687 | CLCN1 | c.589A= (p.Ile197=) c.357A= c.43A= (p.Ile15=) c.47A= n.47A= n.676A= c.296A= (p.Asn99=) n.691A= | |
| 7 | g.143321741A>C | CA369684379 | CLCN1 | c.589A>C (p.Ile197Leu) c.357A>C c.43A>C (p.Ile15Leu) c.47A>C n.47A>C n.676A>C c.296A>C (p.Asn99Thr) n.691A>C | |
| 7 | g.143321741A>G | CA369684384 | CLCN1 | c.589A>G (p.Ile197Val) c.357A>G c.43A>G (p.Ile15Val) c.47A>G n.47A>G n.676A>G c.296A>G (p.Asn99Ser) n.691A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143321741A>T | CA369684381 | CLCN1 | c.589A>T (p.Ile197Leu) c.357A>T c.43A>T (p.Ile15Leu) c.47A>T n.47A>T n.676A>T c.296A>T (p.Asn99Ile) n.691A>T | |
| 7 | g.143321742T>A | CA369684387 | CLCN1 | c.590T>A (p.Ile197Lys) c.358T>A c.44T>A (p.Ile15Lys) c.48T>A n.48T>A n.677T>A c.297T>A (p.Asn99Lys) n.692T>A | |
| 7 | g.143321742T>C | CA168256267 | CLCN1 | c.590T>C (p.Ile197Thr) c.358T>C c.44T>C (p.Ile15Thr) c.48T>C n.48T>C n.677T>C c.297T>C (p.Asn99=) n.692T>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.143321742T>G | CA369684396 | CLCN1 | c.590T>G (p.Ile197Arg) c.358T>G c.44T>G (p.Ile15Arg) c.48T>G n.48T>G n.677T>G c.297T>G (p.Asn99Lys) n.692T>G | |
| 7 | g.143321742T= | CA1748881690 | CLCN1 | c.590T= (p.Ile197=) c.358T= c.44T= (p.Ile15=) c.48T= n.48T= n.677T= c.297T= (p.Asn99=) n.692T= | |
| 7 | g.143321743A= | CA1748881693 | CLCN1 | c.591A= (p.Ile197=) c.359A= c.45A= (p.Ile15=) c.49A= n.49A= n.678A= c.298A= (p.Thr100=) n.693A= | |
| 7 | g.143321743A>C | CA458542087 | CLCN1 | c.591A>C (p.Ile197=) c.359A>C c.45A>C (p.Ile15=) c.49A>C n.49A>C n.678A>C c.298A>C (p.Thr100Pro) n.693A>C | |
| 7 | g.143321743A>G | CA369684397 | CLCN1 | c.591A>G (p.Ile197Met) c.359A>G c.45A>G (p.Ile15Met) c.49A>G n.49A>G n.678A>G c.298A>G (p.Thr100Ala) n.693A>G | dbSNP |
| 7 | g.143321743A>T | CA458542088 | CLCN1 | c.591A>T (p.Ile197=) c.359A>T c.45A>T (p.Ile15=) c.49A>T n.49A>T n.678A>T c.298A>T (p.Thr100Ser) n.693A>T | |
| 7 | g.143321744C>A | CA369684403 | CLCN1 | c.592C>A (p.Leu198Ile) c.360C>A c.46C>A (p.Leu16Ile) c.50C>A n.50C>A n.679C>A c.299C>A (p.Thr100Asn) n.694C>A | |
| 7 | g.143321744C= | CA1748881697 | CLCN1 | c.592C= (p.Leu198=) c.360C= c.46C= (p.Leu16=) c.50C= n.50C= n.679C= c.299C= (p.Thr100=) n.694C= | |
| 7 | g.143321744C>G | CA341549 | CLCN1 | c.592C>G (p.Leu198Val) c.360C>G c.46C>G (p.Leu16Val) c.50C>G n.50C>G n.679C>G c.299C>G (p.Thr100Ser) n.694C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.143321744C>T | CA369684416 | CLCN1 | c.592C>T (p.Leu198Phe) c.360C>T c.46C>T (p.Leu16Phe) c.50C>T n.50C>T n.679C>T c.299C>T (p.Thr100Ile) n.694C>T | |
| 7 | g.143321745T>A | CA369684418 | CLCN1 | c.593T>A (p.Leu198His) c.361T>A c.47T>A (p.Leu16His) c.51T>A n.51T>A n.680T>A c.300T>A (p.Thr100=) n.695T>A | |
| 7 | g.143321745T>C | CA369684421 | CLCN1 | c.593T>C (p.Leu198Pro) c.361T>C c.47T>C (p.Leu16Pro) c.51T>C n.51T>C n.680T>C c.300T>C (p.Thr100=) n.695T>C | ClinVar dbSNP |
| 7 | g.143321745T>G | CA369684423 | CLCN1 | c.593T>G (p.Leu198Arg) c.361T>G c.47T>G (p.Leu16Arg) c.51T>G n.51T>G n.680T>G c.300T>G (p.Thr100=) n.695T>G | dbSNP |
| 7 | g.143321745T= | CA1748881704 | CLCN1 | c.593T= (p.Leu198=) c.361T= c.47T= (p.Leu16=) c.51T= n.51T= n.680T= c.300T= (p.Thr100=) n.695T= | |
| 7 | g.143321746T>A | CA458542089 | CLCN1 | c.594T>A (p.Leu198=) c.362T>A c.48T>A (p.Leu16=) c.52T>A n.52T>A n.681T>A c.301T>A (p.Ser101Thr) n.696T>A | |
| 7 | g.143321746T>C | CA458542090 | CLCN1 | c.594T>C (p.Leu198=) c.362T>C c.48T>C (p.Leu16=) c.52T>C n.52T>C n.681T>C c.301T>C (p.Ser101Pro) n.696T>C | |
| 7 | g.143321746T>G | CA458542091 | CLCN1 | c.594T>G (p.Leu198=) c.362T>G c.48T>G (p.Leu16=) c.52T>G n.52T>G n.681T>G c.301T>G (p.Ser101Ala) n.696T>G | |
| 7 | g.143321747C>A | CA369684425 | CLCN1 | c.595C>A (p.Arg199Ser) c.363C>A c.49C>A (p.Arg17Ser) c.53C>A n.53C>A n.682C>A c.302C>A (p.Ser101Ter) n.697C>A | |
| 7 | g.143321747C= | CA1630834952 | CLCN1 | c.595C= (p.Arg199=) c.363C= c.49C= (p.Arg17=) c.53C= n.53C= n.682C= c.302C= (p.Ser101=) n.697C= | |
| 7 | g.143321747C>G | CA369684429 | CLCN1 | c.595C>G (p.Arg199Gly) c.363C>G c.49C>G (p.Arg17Gly) c.53C>G n.53C>G n.682C>G c.302C>G (p.Ser101Trp) n.697C>G | gnomAD v4 |
| 7 | g.143321747C>T | CA4537011 | CLCN1 | c.595C>T (p.Arg199Cys) c.363C>T c.49C>T (p.Arg17Cys) c.53C>T n.53C>T n.682C>T c.302C>T (p.Ser101Leu) n.697C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.143321748G>A | CA369684439 | CLCN1 | c.596G>A (p.Arg199His) c.364G>A c.50G>A (p.Arg17His) c.54G>A n.54G>A n.683G>A c.303G>A (p.Ser101=) n.698G>A | ClinVar gnomAD v4 |
| 7 | g.143321748G>C | CA369684441 | CLCN1 | c.596G>C (p.Arg199Pro) c.364G>C c.50G>C (p.Arg17Pro) c.54G>C n.54G>C n.683G>C c.303G>C (p.Ser101=) n.698G>C | ClinVar gnomAD v4 |
| 7 | g.143321748G>T | CA369684443 | CLCN1 | c.596G>T (p.Arg199Leu) c.364G>T c.50G>T (p.Arg17Leu) c.54G>T n.54G>T n.683G>T c.303G>T (p.Ser101=) n.698G>T | gnomAD v4 |
| 7 | g.143321749T>A | CA458542092 | CLCN1 | c.597T>A (p.Arg199=) c.365T>A c.51T>A (p.Arg17=) c.55T>A n.55T>A n.684T>A c.304T>A (p.Trp102Arg) n.699T>A | |
| 7 | g.143321749T>C | CA458542093 | CLCN1 | c.597T>C (p.Arg199=) c.365T>C c.51T>C (p.Arg17=) c.55T>C n.55T>C n.684T>C c.304T>C (p.Trp102Arg) n.699T>C | |
| 7 | g.143321749T>G | CA458542094 | CLCN1 | c.597T>G (p.Arg199=) c.365T>G c.51T>G (p.Arg17=) c.55T>G n.55T>G n.684T>G c.304T>G (p.Trp102Gly) n.699T>G | |
| 7 | g.143321750G>A | CA369684451 | CLCN1 | c.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 |
| 7 | g.143321750G>C | CA369684452 | CLCN1 | c.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 | |
| 7 | g.143321750G= | CA1748881713 | CLCN1 | c.598G= (p.Gly200=) c.366G= c.52G= (p.Gly18=) c.56G= n.56G= n.685G= c.305G= (p.Trp102=) n.700G= | |
| 7 | g.143321750G>T | CA369684453 | CLCN1 | c.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 | |
| 7 | g.143321753dup | CA2695208680 | CLCN1 | c.601dup (p.Val201GlyfsTer?) c.369dup c.55dup (p.Val19GlyfsTer?) c.59dup n.59dup n.688dup c.308dup (p.Cys104LeufsTer3) n.703dup | |
| 7 | g.143321751G>A | CA4537012 | CLCN1 | c.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 |
| 7 | g.143321751G>C | CA369684459 | CLCN1 | c.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 |
| 7 | g.143321751G= | CA1748881717 | CLCN1 | c.599G= (p.Gly200=) c.367G= c.53G= (p.Gly18=) c.57G= n.57G= n.686G= c.306G= (p.Trp102=) n.701G= | |
| 7 | g.143321751G>T | CA369684454 | CLCN1 | c.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 |
| 7 | g.143321752G>A | CA458542098 | CLCN1 | c.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 |
| 7 | g.143321752G>C | CA458542099 | CLCN1 | c.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 | |
| 7 | g.143321752G>T | CA458542100 | CLCN1 | c.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 | |
| 7 | g.143321753G>A | CA4537013 | CLCN1 | c.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 |
| 7 | g.143321753G>C | CA369684464 | CLCN1 | c.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 | |
| 7 | g.143321753G= | CA1748881722 | CLCN1 | c.601G= (p.Val201=) c.369G= c.55G= (p.Val19=) c.59G= n.59G= n.688G= c.308G= (p.Gly103=) n.703G= | |
| 7 | g.143321753G>T | CA369684465 | CLCN1 | c.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 |