| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 7 | g.143321732A>T | CA369684322 | CLCN1 | c.580A>T (p.Met194Leu) c.348A>T c.34A>T (p.Met12Leu) c.38A>T n.38A>T n.667A>T c.287A>T (p.Asn96Ile) n.682A>T | |
| 7 | g.143321733T>A | CA369684324 | CLCN1 | c.581T>A (p.Met194Lys) c.349T>A c.35T>A (p.Met12Lys) c.39T>A n.39T>A n.668T>A c.288T>A (p.Asn96Lys) n.683T>A | |
| 7 | g.143321733T>C | CA4537010 | CLCN1 | c.581T>C (p.Met194Thr) c.349T>C c.35T>C (p.Met12Thr) c.39T>C n.39T>C n.668T>C c.288T>C (p.Asn96=) n.683T>C | dbSNP ExAC |
| 7 | g.143321733T>G | CA369684326 | CLCN1 | c.581T>G (p.Met194Arg) c.349T>G c.35T>G (p.Met12Arg) c.39T>G n.39T>G n.668T>G c.288T>G (p.Asn96Lys) n.683T>G | |
| 7 | g.143321733T= | CA1748881670 | CLCN1 | c.581T= (p.Met194=) c.349T= c.35T= (p.Met12=) c.39T= n.39T= n.668T= c.288T= (p.Asn96=) n.683T= | |
| 7 | g.143321734G>A | CA369684329 | CLCN1 | c.582G>A (p.Met194Ile) c.350G>A c.36G>A (p.Met12Ile) c.40G>A n.40G>A n.669G>A c.289G>A (p.Glu97Lys) n.684G>A | COSMIC |
| 7 | g.143321734G>C | CA369684333 | CLCN1 | c.582G>C (p.Met194Ile) c.350G>C c.36G>C (p.Met12Ile) c.40G>C n.40G>C n.669G>C c.289G>C (p.Glu97Gln) n.684G>C | |
| 7 | g.143321734G>T | CA369684332 | CLCN1 | c.582G>T (p.Met194Ile) c.350G>T c.36G>T (p.Met12Ile) c.40G>T n.40G>T n.669G>T c.289G>T (p.Glu97Ter) n.684G>T | |
| 7 | g.143321735A= | CA1748881673 | CLCN1 | c.583A= (p.Lys195=) c.351A= c.37A= (p.Lys13=) c.41A= n.41A= n.670A= c.290A= (p.Glu97=) n.685A= | |
| 7 | g.143321735A>C | CA168256232 | CLCN1 | c.583A>C (p.Lys195Gln) c.351A>C c.37A>C (p.Lys13Gln) c.41A>C n.41A>C n.670A>C c.290A>C (p.Glu97Ala) n.685A>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.143321735A>G | CA369684340 | CLCN1 | c.583A>G (p.Lys195Glu) c.351A>G c.37A>G (p.Lys13Glu) c.41A>G n.41A>G n.670A>G c.290A>G (p.Glu97Gly) n.685A>G | dbSNP |
| 7 | g.143321735A>T | CA369684343 | CLCN1 | c.583A>T (p.Lys195Ter) c.351A>T c.37A>T (p.Lys13Ter) c.41A>T n.41A>T n.670A>T c.290A>T (p.Glu97Val) n.685A>T | |
| 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.143321736A>C | CA369684347 | CLCN1 | c.584A>C (p.Lys195Thr) c.352A>C c.38A>C (p.Lys13Thr) c.42A>C n.42A>C n.671A>C c.291A>C (p.Glu97Asp) n.686A>C | |
| 7 | g.143321736A>G | CA369684349 | CLCN1 | c.584A>G (p.Lys195Arg) c.352A>G c.38A>G (p.Lys13Arg) c.42A>G n.42A>G n.671A>G c.291A>G (p.Glu97=) n.686A>G | |
| 7 | g.143321736A>T | CA369684351 | CLCN1 | c.584A>T (p.Lys195Met) c.352A>T c.38A>T (p.Lys13Met) c.42A>T n.42A>T n.671A>T c.291A>T (p.Glu97Asp) n.686A>T | |
| 7 | g.143321737G>A | CA458542083 | CLCN1 | c.585G>A (p.Lys195=) c.353G>A c.39G>A (p.Lys13=) c.43G>A n.43G>A n.672G>A c.292G>A (p.Asp98Asn) n.687G>A | |
| 7 | g.143321737G>C | CA168256254 | CLCN1 | c.585G>C (p.Lys195Asn) c.353G>C c.39G>C (p.Lys13Asn) c.43G>C n.43G>C n.672G>C c.292G>C (p.Asp98His) n.687G>C | dbSNP |
| 7 | g.143321737G= | CA1748881678 | CLCN1 | c.585G= (p.Lys195=) c.353G= c.39G= (p.Lys13=) c.43G= n.43G= n.672G= c.292G= (p.Asp98=) n.687G= | |
| 7 | g.143321737G>T | CA369684352 | CLCN1 | c.585G>T (p.Lys195Asn) c.353G>T c.39G>T (p.Lys13Asn) c.43G>T n.43G>T n.672G>T c.292G>T (p.Asp98Tyr) n.687G>T | |
| 7 | g.143321738A= | CA1748881683 | CLCN1 | c.586A= (p.Thr196=) c.354A= c.40A= (p.Thr14=) c.44A= n.44A= n.673A= c.293A= (p.Asp98=) n.688A= | |
| 7 | g.143321738A>C | CA369684357 | CLCN1 | c.586A>C (p.Thr196Pro) c.354A>C c.40A>C (p.Thr14Pro) c.44A>C n.44A>C n.673A>C c.293A>C (p.Asp98Ala) n.688A>C | |
| 7 | g.143321738A>G | CA369684360 | CLCN1 | c.586A>G (p.Thr196Ala) c.354A>G c.40A>G (p.Thr14Ala) c.44A>G n.44A>G n.673A>G c.293A>G (p.Asp98Gly) n.688A>G | |
| 7 | g.143321738A>T | CA369684362 | CLCN1 | c.586A>T (p.Thr196Ser) c.354A>T c.40A>T (p.Thr14Ser) c.44A>T n.44A>T n.673A>T c.293A>T (p.Asp98Val) n.688A>T | ClinVar dbSNP |
| 7 | g.143321739del | CA2685383199 | CLCN1 | c.587del (p.Thr196LysfsTer8) c.355del c.41del (p.Thr14LysfsTer8) c.45del n.45del n.674del c.294del (p.Asp98GlufsTer?) n.689del | gnomAD v4 |
| 7 | g.143321739C>A | CA369684367 | CLCN1 | c.587C>A (p.Thr196Lys) c.355C>A c.41C>A (p.Thr14Lys) c.45C>A n.45C>A n.674C>A c.294C>A (p.Asp98Glu) n.689C>A | |
| 7 | g.143321739C>G | CA369684371 | CLCN1 | c.587C>G (p.Thr196Arg) c.355C>G c.41C>G (p.Thr14Arg) c.45C>G n.45C>G n.674C>G c.294C>G (p.Asp98Glu) n.689C>G | |
| 7 | g.143321739C>T | CA369684373 | CLCN1 | c.587C>T (p.Thr196Ile) c.355C>T c.41C>T (p.Thr14Ile) c.45C>T n.45C>T n.674C>T c.294C>T (p.Asp98=) n.689C>T | |
| 7 | g.143321740A>C | CA458542086 | CLCN1 | c.588A>C (p.Thr196=) c.356A>C c.42A>C (p.Thr14=) c.46A>C n.46A>C n.675A>C c.295A>C (p.Asn99His) n.690A>C | |
| 7 | g.143321740A>G | CA458542084 | CLCN1 | c.588A>G (p.Thr196=) c.356A>G c.42A>G (p.Thr14=) c.46A>G n.46A>G n.675A>G c.295A>G (p.Asn99Asp) n.690A>G | |
| 7 | g.143321740A>T | CA458542085 | CLCN1 | c.588A>T (p.Thr196=) c.356A>T c.42A>T (p.Thr14=) c.46A>T n.46A>T n.675A>T c.295A>T (p.Asn99Tyr) n.690A>T | |
| 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 |