Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
7 | g.143321754T>A | CA369684466 | CLCN1 | c.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 | |
7 | g.143321754T>C | CA369684467 | CLCN1 | c.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 |
7 | g.143321754T>G | CA369684469 | CLCN1 | c.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 | |
7 | g.143321755dup | CA2740094895 | CLCN1 | c.603dup (p.Val202CysfsTer?) c.371dup c.57dup (p.Val20CysfsTer?) c.61dup n.61dup n.690dup c.310dup (p.Cys104LeufsTer3) n.705dup | ClinVar |
7 | g.143321755T>A | CA458542103 | CLCN1 | c.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 | |
7 | g.143321755T>C | CA458542104 | CLCN1 | c.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 | |
7 | g.143321755T>G | CA458542105 | CLCN1 | c.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 | |
7 | g.143321756G>A | CA369684470 | CLCN1 | c.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 |
7 | g.143321756G>C | CA369684477 | CLCN1 | c.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 | |
7 | g.143321756G= | CA1748881726 | CLCN1 | c.604G= (p.Val202=) c.372G= c.58G= (p.Val20=) c.62G= n.62G= n.691G= c.311G= (p.Cys104=) n.706G= | |
7 | g.143321756G>T | CA369684472 | CLCN1 | c.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 |
7 | g.143321757T>A | CA369684478 | CLCN1 | c.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 | |
7 | g.143321757T>C | CA369684483 | CLCN1 | c.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 |