Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.45955114C>A | CA2711483258 | CLIC5 | c.650+21G>T (n.650+21G>T) c.173+21G>T (n.173+21G>T) c.56+21G>T (n.56+21G>T) n.695+21G>T n.763+21G>T | dbSNP |
6 | g.45955114C= | CA1625711048 | CLIC5 | c.650+21G= (n.650+21G=) c.173+21G= (n.173+21G=) c.56+21G= (n.56+21G=) n.695+21G= n.763+21G= | |
6 | g.45955114C>T | CA3836900 | CLIC5 | c.650+21G>A (n.650+21G>A) c.173+21G>A (n.173+21G>A) c.56+21G>A (n.56+21G>A) n.695+21G>A n.763+21G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955116T>C | CA2678981703 | CLIC5 | c.650+19A>G (n.650+19A>G) c.173+19A>G (n.173+19A>G) c.56+19A>G (n.56+19A>G) n.695+19A>G n.763+19A>G | dbSNP gnomAD v4 |
6 | g.45955119A= | CA1625711053 | CLIC5 | c.650+16T= (n.650+16T=) c.173+16T= (n.173+16T=) c.56+16T= (n.56+16T=) n.695+16T= n.763+16T= | |
6 | g.45955119A>G | CA3836901 | CLIC5 | c.650+16T>C (n.650+16T>C) c.173+16T>C (n.173+16T>C) c.56+16T>C (n.56+16T>C) n.695+16T>C n.763+16T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.45955120T>C | CA2678981706 | CLIC5 | c.650+15A>G (n.650+15A>G) c.173+15A>G (n.173+15A>G) c.56+15A>G (n.56+15A>G) n.695+15A>G n.763+15A>G | gnomAD v4 |
6 | g.45955121G>A | CA2578635505 | CLIC5 | c.650+14C>T (n.650+14C>T) c.173+14C>T (n.173+14C>T) c.56+14C>T (n.56+14C>T) n.695+14C>T n.763+14C>T | |
6 | g.45955121G>T | CA2678981707 | CLIC5 | c.650+14C>A (n.650+14C>A) c.173+14C>A (n.173+14C>A) c.56+14C>A (n.56+14C>A) n.695+14C>A n.763+14C>A | gnomAD v4 |
6 | g.45955122C>T | CA2678981708 | CLIC5 | c.650+13G>A (n.650+13G>A) c.173+13G>A (n.173+13G>A) c.56+13G>A (n.56+13G>A) n.695+13G>A n.763+13G>A | gnomAD v4 |
6 | g.45955124A>C | CA2678981709 | CLIC5 | c.650+11T>G (n.650+11T>G) c.173+11T>G (n.173+11T>G) c.56+11T>G (n.56+11T>G) n.695+11T>G n.763+11T>G | gnomAD v4 |
6 | g.45955124A>G | CA2678981710 | CLIC5 | c.650+11T>C (n.650+11T>C) c.173+11T>C (n.173+11T>C) c.56+11T>C (n.56+11T>C) n.695+11T>C n.763+11T>C | gnomAD v4 |
6 | g.45955124A>T | CA2578635506 | CLIC5 | c.650+11T>A (n.650+11T>A) c.173+11T>A (n.173+11T>A) c.56+11T>A (n.56+11T>A) n.695+11T>A n.763+11T>A | |
6 | g.45955125C>A | CA2678981714 | CLIC5 | c.650+10G>T (n.650+10G>T) c.173+10G>T (n.173+10G>T) c.56+10G>T (n.56+10G>T) n.695+10G>T n.763+10G>T | gnomAD v4 |
6 | g.45955125C= | CA1625711058 | CLIC5 | c.650+10G= (n.650+10G=) c.173+10G= (n.173+10G=) c.56+10G= (n.56+10G=) n.695+10G= n.763+10G= | |
6 | g.45955125C>G | CA2573140985 | CLIC5 | c.650+10G>C (n.650+10G>C) c.173+10G>C (n.173+10G>C) c.56+10G>C (n.56+10G>C) n.695+10G>C n.763+10G>C | ClinVar dbSNP |
6 | g.45955125C>T | CA3836902 | CLIC5 | c.650+10G>A (n.650+10G>A) c.173+10G>A (n.173+10G>A) c.56+10G>A (n.56+10G>A) n.695+10G>A n.763+10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955126G>A | CA3836903 | CLIC5 | c.650+9C>T (n.650+9C>T) c.173+9C>T (n.173+9C>T) c.56+9C>T (n.56+9C>T) n.695+9C>T n.763+9C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955126G= | CA1625711065 | CLIC5 | c.650+9C= (n.650+9C=) c.173+9C= (n.173+9C=) c.56+9C= (n.56+9C=) n.695+9C= n.763+9C= | |
6 | g.45955126G>T | CA2678981720 | CLIC5 | c.650+9C>A (n.650+9C>A) c.173+9C>A (n.173+9C>A) c.56+9C>A (n.56+9C>A) n.695+9C>A n.763+9C>A | gnomAD v4 |
6 | g.45955127T>A | CA1088568528 | CLIC5 | c.650+8A>T (n.650+8A>T) c.173+8A>T (n.173+8A>T) c.56+8A>T (n.56+8A>T) n.695+8A>T n.763+8A>T | dbSNP |
6 | g.45955127T= | CA1625711070 | CLIC5 | c.650+8A= (n.650+8A=) c.173+8A= (n.173+8A=) c.56+8A= (n.56+8A=) n.695+8A= n.763+8A= | |
6 | g.45955129C= | CA1625711074 | CLIC5 | c.650+6G= (n.650+6G=) c.173+6G= (n.173+6G=) c.56+6G= (n.56+6G=) n.695+6G= n.763+6G= | |
6 | g.45955129C>T | CA3836904 | CLIC5 | c.650+6G>A (n.650+6G>A) c.173+6G>A (n.173+6G>A) c.56+6G>A (n.56+6G>A) n.695+6G>A n.763+6G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955129_45955130delinsCG | CA1625711075 | CLIC5 | c.650+5_650+6delinsCG (n.650+5_650+6delinsCG) c.173+5_173+6delinsCG (n.173+5_173+6delinsCG) c.56+5_56+6delinsCG (n.56+5_56+6delinsCG) n.695+5_695+6delinsCG n.763+5_763+6delinsCG | |
6 | g.45955130del | CA1088568531 | CLIC5 | c.650+5del (n.650+5del) c.173+5del (n.173+5del) c.56+5del (n.56+5del) n.695+5del n.763+5del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.45955130G>A | CA3836905 | CLIC5 | c.650+5C>T (n.650+5C>T) c.173+5C>T (n.173+5C>T) c.56+5C>T (n.56+5C>T) n.695+5C>T n.763+5C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955130G>C | CA2678981723 | CLIC5 | c.650+5C>G (n.650+5C>G) c.173+5C>G (n.173+5C>G) c.56+5C>G (n.56+5C>G) n.695+5C>G n.763+5C>G | gnomAD v4 |
6 | g.45955130G= | CA1625711081 | CLIC5 | c.650+5C= (n.650+5C=) c.173+5C= (n.173+5C=) c.56+5C= (n.56+5C=) n.695+5C= n.763+5C= | |
6 | g.45955130G>T | CA2678981722 | CLIC5 | c.650+5C>A (n.650+5C>A) c.173+5C>A (n.173+5C>A) c.56+5C>A (n.56+5C>A) n.695+5C>A n.763+5C>A | gnomAD v4 |
6 | g.45955132_45955133insGCATAAATGAAGAGTATGTT | CA2678981725 | CLIC5 | c.650+5_650+6insATACTCTTCATTTATGCAAC (n.650+5_650+6insATACTCTTCATTTATGCAAC) c.173+5_173+6insATACTCTTCATTTATGCAAC (n.173+5_173+6insATACTCTTCATTTATGCAAC) c.56+5_56+6insATACTCTTCATTTATGCAAC (n.56+5_56+6insATACTCTTCATTTATGCAAC) n.695+5_695+6insATACTCTTCATTTATGCAAC n.763+5_763+6insATACTCTTCATTTATGCAAC | gnomAD v4 |
6 | g.45955132T>G | CA2770909062 | CLIC5 | c.650+3A>C (n.650+3A>C) c.173+3A>C (n.173+3A>C) c.56+3A>C (n.56+3A>C) n.695+3A>C n.763+3A>C | |
6 | g.45955133A= | CA1625711086 | CLIC5 | c.650+2T= (n.650+2T=) c.173+2T= (n.173+2T=) c.56+2T= (n.56+2T=) n.695+2T= n.763+2T= | |
6 | g.45955133A>C | CA363965584 | CLIC5 | c.650+2T>G (n.650+2T>G) c.173+2T>G (n.173+2T>G) c.56+2T>G (n.56+2T>G) n.695+2T>G n.763+2T>G | |
6 | g.45955133A>G | CA363965588 | CLIC5 | c.650+2T>C (n.650+2T>C) c.173+2T>C (n.173+2T>C) c.56+2T>C (n.56+2T>C) n.695+2T>C n.763+2T>C | |
6 | g.45955133A>T | CA3836906 | CLIC5 | c.650+2T>A (n.650+2T>A) c.173+2T>A (n.173+2T>A) c.56+2T>A (n.56+2T>A) n.695+2T>A n.763+2T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955134C>A | CA363965595 | CLIC5 | c.650+1G>T (n.650+1G>T) c.173+1G>T (n.173+1G>T) c.56+1G>T (n.56+1G>T) n.695+1G>T n.763+1G>T | gnomAD v4 |
6 | g.45955134C>G | CA363965610 | CLIC5 | c.650+1G>C (n.650+1G>C) c.173+1G>C (n.173+1G>C) c.56+1G>C (n.56+1G>C) n.695+1G>C n.763+1G>C | |
6 | g.45955134C>T | CA363965613 | CLIC5 | c.650+1G>A (n.650+1G>A) c.173+1G>A (n.173+1G>A) c.56+1G>A (n.56+1G>A) n.695+1G>A n.763+1G>A | |
6 | g.45955135C>A | CA363965618 | CLIC5 | c.650G>T (p.Arg217Ile) c.173G>T (p.Arg58Ile) c.56G>T (p.Arg19Ile) n.695G>T n.763G>T | |
6 | g.45955135C= | CA1625711091 | CLIC5 | c.650G= (p.Arg217=) c.173G= (p.Arg58=) c.56G= (p.Arg19=) n.695G= n.763G= | |
6 | g.45955135C>G | CA363965624 | CLIC5 | c.650G>C (p.Arg217Thr) c.173G>C (p.Arg58Thr) c.56G>C (p.Arg19Thr) n.695G>C n.763G>C | dbSNP |
6 | g.45955135C>T | CA363965627 | CLIC5 | c.650G>A (p.Arg217Lys) c.173G>A (p.Arg58Lys) c.56G>A (p.Arg19Lys) n.695G>A n.763G>A | |
6 | g.45955136T>A | CA363965636 | CLIC5 | c.649A>T (p.Arg217Ter) c.172A>T (p.Arg58Ter) c.55A>T (p.Arg19Ter) n.694A>T n.762A>T | |
6 | g.45955136T>C | CA363965632 | CLIC5 | c.649A>G (p.Arg217Gly) c.172A>G (p.Arg58Gly) c.55A>G (p.Arg19Gly) n.694A>G n.762A>G | gnomAD v4 |
6 | g.45955136T>G | CA450161449 | CLIC5 | c.649A>C (p.Arg217=) c.172A>C (p.Arg58=) c.55A>C (p.Arg19=) n.694A>C n.762A>C | gnomAD v4 |
6 | g.45955139del | CA2678981736 | CLIC5 | c.649del (p.Arg217GlufsTer9) c.172del (p.Arg58GlufsTer9) c.55del (p.Arg19GlufsTer9) n.694del n.762del | gnomAD v4 |
6 | g.45955137T>A | CA363965641 | CLIC5 | c.648A>T (p.Lys216Asn) c.171A>T (p.Lys57Asn) c.54A>T (p.Lys18Asn) n.693A>T n.761A>T | |
6 | g.45955137T>C | CA450161450 | CLIC5 | c.648A>G (p.Lys216=) c.171A>G (p.Lys57=) c.54A>G (p.Lys18=) n.693A>G n.761A>G | |
6 | g.45955137T>G | CA363965645 | CLIC5 | c.648A>C (p.Lys216Asn) c.171A>C (p.Lys57Asn) c.54A>C (p.Lys18Asn) n.693A>C n.761A>C | |
6 | g.45955138T>A | CA363965649 | CLIC5 | c.647A>T (p.Lys216Ile) c.170A>T (p.Lys57Ile) c.53A>T (p.Lys18Ile) n.692A>T n.760A>T | |
6 | g.45955138T>C | CA363965653 | CLIC5 | c.647A>G (p.Lys216Arg) c.170A>G (p.Lys57Arg) c.53A>G (p.Lys18Arg) n.692A>G n.760A>G | |
6 | g.45955138T>G | CA363965655 | CLIC5 | c.647A>C (p.Lys216Thr) c.170A>C (p.Lys57Thr) c.53A>C (p.Lys18Thr) n.692A>C n.760A>C | |
6 | g.45955139T>A | CA363965657 | CLIC5 | c.646A>T (p.Lys216Ter) c.169A>T (p.Lys57Ter) c.52A>T (p.Lys18Ter) n.691A>T n.759A>T | |
6 | g.45955139T>C | CA363965659 | CLIC5 | c.646A>G (p.Lys216Glu) c.169A>G (p.Lys57Glu) c.52A>G (p.Lys18Glu) n.691A>G n.759A>G | |
6 | g.45955139T>G | CA363965661 | CLIC5 | c.646A>C (p.Lys216Gln) c.169A>C (p.Lys57Gln) c.52A>C (p.Lys18Gln) n.691A>C n.759A>C | |
6 | g.45955140C>A | CA450161451 | CLIC5 | c.645G>T (p.Leu215=) c.168G>T (p.Leu56=) c.51G>T (p.Leu17=) n.690G>T n.758G>T | |
6 | g.45955140C>G | CA450161452 | CLIC5 | c.645G>C (p.Leu215=) c.168G>C (p.Leu56=) c.51G>C (p.Leu17=) n.690G>C n.758G>C | |
6 | g.45955140C>T | CA450161453 | CLIC5 | c.645G>A (p.Leu215=) c.168G>A (p.Leu56=) c.51G>A (p.Leu17=) n.690G>A n.758G>A | |
6 | g.45955141A>C | CA363965665 | CLIC5 | c.644T>G (p.Leu215Arg) c.167T>G (p.Leu56Arg) c.50T>G (p.Leu17Arg) n.689T>G n.757T>G | |
6 | g.45955141A>G | CA363965669 | CLIC5 | c.644T>C (p.Leu215Pro) c.167T>C (p.Leu56Pro) c.50T>C (p.Leu17Pro) n.689T>C n.757T>C | gnomAD v4 |
6 | g.45955141A>T | CA363965670 | CLIC5 | c.644T>A (p.Leu215Gln) c.167T>A (p.Leu56Gln) c.50T>A (p.Leu17Gln) n.689T>A n.757T>A | |
6 | g.45955142G>A | CA450161454 | CLIC5 | c.643C>T (p.Leu215=) c.166C>T (p.Leu56=) c.49C>T (p.Leu17=) n.688C>T n.756C>T | gnomAD v4 |
6 | g.45955142G>C | CA363965671 | CLIC5 | c.643C>G (p.Leu215Val) c.166C>G (p.Leu56Val) c.49C>G (p.Leu17Val) n.688C>G n.756C>G | dbSNP |
6 | g.45955142G>T | CA363965676 | CLIC5 | c.643C>A (p.Leu215Met) c.166C>A (p.Leu56Met) c.49C>A (p.Leu17Met) n.688C>A n.756C>A | gnomAD v4 COSMIC |
6 | g.45955143A>C | CA363965683 | CLIC5 | c.642T>G (p.Asp214Glu) c.165T>G (p.Asp55Glu) c.48T>G (p.Asp16Glu) n.687T>G n.755T>G | |
6 | g.45955143A>G | CA450161455 | CLIC5 | c.642T>C (p.Asp214=) c.165T>C (p.Asp55=) c.48T>C (p.Asp16=) n.687T>C n.755T>C | |
6 | g.45955143A>T | CA363965679 | CLIC5 | c.642T>A (p.Asp214Glu) c.165T>A (p.Asp55Glu) c.48T>A (p.Asp16Glu) n.687T>A n.755T>A | |
6 | g.45955144T>A | CA363965688 | CLIC5 | c.641A>T (p.Asp214Val) c.164A>T (p.Asp55Val) c.47A>T (p.Asp16Val) n.686A>T n.754A>T | |
6 | g.45955144T>C | CA363965690 | CLIC5 | c.641A>G (p.Asp214Gly) c.164A>G (p.Asp55Gly) c.47A>G (p.Asp16Gly) n.686A>G n.754A>G | |
6 | g.45955144T>G | CA363965694 | CLIC5 | c.641A>C (p.Asp214Ala) c.164A>C (p.Asp55Ala) c.47A>C (p.Asp16Ala) n.686A>C n.754A>C | |
6 | g.45955145C>A | CA363965699 | CLIC5 | c.640G>T (p.Asp214Tyr) c.163G>T (p.Asp55Tyr) c.46G>T (p.Asp16Tyr) n.685G>T n.753G>T | |
6 | g.45955145C= | CA1625711096 | CLIC5 | c.640G= (p.Asp214=) c.163G= (p.Asp55=) c.46G= (p.Asp16=) n.685G= n.753G= | |
6 | g.45955145C>G | CA363965708 | CLIC5 | c.640G>C (p.Asp214His) c.163G>C (p.Asp55His) c.46G>C (p.Asp16His) n.685G>C n.753G>C | |
6 | g.45955145C>T | CA138534353 | CLIC5 | c.640G>A (p.Asp214Asn) c.163G>A (p.Asp55Asn) c.46G>A (p.Asp16Asn) n.685G>A n.753G>A | dbSNP |
6 | g.45955146C>A | CA450161456 | CLIC5 | c.639G>T (p.Val213=) c.162G>T (p.Val54=) c.45G>T (p.Val15=) n.684G>T n.752G>T | gnomAD v4 |
6 | g.45955146C>G | CA450161457 | CLIC5 | c.639G>C (p.Val213=) c.162G>C (p.Val54=) c.45G>C (p.Val15=) n.684G>C n.752G>C | |
6 | g.45955146C>T | CA450161458 | CLIC5 | c.639G>A (p.Val213=) c.162G>A (p.Val54=) c.45G>A (p.Val15=) n.684G>A n.752G>A | |
6 | g.45955147A= | CA1625711105 | CLIC5 | c.638T= (p.Val213=) c.161T= (p.Val54=) c.44T= (p.Val15=) n.683T= n.751T= | |
6 | g.45955147A>C | CA363965719 | CLIC5 | c.638T>G (p.Val213Gly) c.161T>G (p.Val54Gly) c.44T>G (p.Val15Gly) n.683T>G n.751T>G | |
6 | g.45955147A>G | CA363965717 | CLIC5 | c.638T>C (p.Val213Ala) c.161T>C (p.Val54Ala) c.44T>C (p.Val15Ala) n.683T>C n.751T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.45955147A>T | CA363965715 | CLIC5 | c.638T>A (p.Val213Glu) c.161T>A (p.Val54Glu) c.44T>A (p.Val15Glu) n.683T>A n.751T>A | |
6 | g.45955148C>A | CA363965733 | CLIC5 | c.637G>T (p.Val213Leu) c.160G>T (p.Val54Leu) c.43G>T (p.Val15Leu) n.682G>T n.750G>T | |
6 | g.45955148C>G | CA363965743 | CLIC5 | c.637G>C (p.Val213Leu) c.160G>C (p.Val54Leu) c.43G>C (p.Val15Leu) n.682G>C n.750G>C | |
6 | g.45955148C>T | CA363965746 | CLIC5 | c.637G>A (p.Val213Met) c.160G>A (p.Val54Met) c.43G>A (p.Val15Met) n.682G>A n.750G>A | |
6 | g.45955149A= | CA1625711112 | CLIC5 | c.636T= (p.Thr212=) c.159T= (p.Thr53=) c.42T= (p.Thr14=) n.681T= n.749T= | |
6 | g.45955149A>C | CA450161459 | CLIC5 | c.636T>G (p.Thr212=) c.159T>G (p.Thr53=) c.42T>G (p.Thr14=) n.681T>G n.749T>G | |
6 | g.45955149A>G | CA450161461 | CLIC5 | c.636T>C (p.Thr212=) c.159T>C (p.Thr53=) c.42T>C (p.Thr14=) n.681T>C n.749T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955149A>T | CA450161460 | CLIC5 | c.636T>A (p.Thr212=) c.159T>A (p.Thr53=) c.42T>A (p.Thr14=) n.681T>A n.749T>A | |
6 | g.45955150G>A | CA363965752 | CLIC5 | c.635C>T (p.Thr212Ile) c.158C>T (p.Thr53Ile) c.41C>T (p.Thr14Ile) n.680C>T n.748C>T | |
6 | g.45955150G>C | CA3836907 | CLIC5 | c.635C>G (p.Thr212Ser) c.158C>G (p.Thr53Ser) c.41C>G (p.Thr14Ser) n.680C>G n.748C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955150G= | CA1625711117 | CLIC5 | c.635C= (p.Thr212=) c.158C= (p.Thr53=) c.41C= (p.Thr14=) n.680C= n.748C= | |
6 | g.45955150G>T | CA363965759 | CLIC5 | c.635C>A (p.Thr212Asn) c.158C>A (p.Thr53Asn) c.41C>A (p.Thr14Asn) n.680C>A n.748C>A | dbSNP |
6 | g.45955151T>A | CA363965767 | CLIC5 | c.634A>T (p.Thr212Ser) c.157A>T (p.Thr53Ser) c.40A>T (p.Thr14Ser) n.679A>T n.747A>T | |
6 | g.45955151T>C | CA3836908 | CLIC5 | c.634A>G (p.Thr212Ala) c.157A>G (p.Thr53Ala) c.40A>G (p.Thr14Ala) n.679A>G n.747A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955151T>G | CA363965765 | CLIC5 | c.634A>C (p.Thr212Pro) c.157A>C (p.Thr53Pro) c.40A>C (p.Thr14Pro) n.679A>C n.747A>C | |
6 | g.45955151T= | CA1625711126 | CLIC5 | c.634A= (p.Thr212=) c.157A= (p.Thr53=) c.40A= (p.Thr14=) n.679A= n.747A= | |
6 | g.45955152G>A | CA450161462 | CLIC5 | c.633C>T (p.Thr211=) c.156C>T (p.Thr52=) c.39C>T (p.Thr13=) n.678C>T n.746C>T | |
6 | g.45955152G>C | CA450161463 | CLIC5 | c.633C>G (p.Thr211=) c.156C>G (p.Thr52=) c.39C>G (p.Thr13=) n.678C>G n.746C>G | |
6 | g.45955152G>T | CA450161464 | CLIC5 | c.633C>A (p.Thr211=) c.156C>A (p.Thr52=) c.39C>A (p.Thr13=) n.678C>A n.746C>A | gnomAD v4 |
6 | g.45955153G>A | CA363965777 | CLIC5 | c.632C>T (p.Thr211Ile) c.155C>T (p.Thr52Ile) c.38C>T (p.Thr13Ile) n.677C>T n.745C>T | |
6 | g.45955153G>C | CA363965784 | CLIC5 | c.632C>G (p.Thr211Ser) c.155C>G (p.Thr52Ser) c.38C>G (p.Thr13Ser) n.677C>G n.745C>G | |
6 | g.45955153G= | CA1625711130 | CLIC5 | c.632C= (p.Thr211=) c.155C= (p.Thr52=) c.38C= (p.Thr13=) n.677C= n.745C= | |
6 | g.45955153G>T | CA363965787 | CLIC5 | c.632C>A (p.Thr211Asn) c.155C>A (p.Thr52Asn) c.38C>A (p.Thr13Asn) n.677C>A n.745C>A | dbSNP |
6 | g.45955154T>A | CA3836909 | CLIC5 | c.631A>T (p.Thr211Ser) c.154A>T (p.Thr52Ser) c.37A>T (p.Thr13Ser) n.676A>T n.744A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955154T>C | CA363965799 | CLIC5 | c.631A>G (p.Thr211Ala) c.154A>G (p.Thr52Ala) c.37A>G (p.Thr13Ala) n.676A>G n.744A>G | |
6 | g.45955154T>G | CA363965802 | CLIC5 | c.631A>C (p.Thr211Pro) c.154A>C (p.Thr52Pro) c.37A>C (p.Thr13Pro) n.676A>C n.744A>C | gnomAD v4 |
6 | g.45955154T= | CA1625711133 | CLIC5 | c.631A= (p.Thr211=) c.154A= (p.Thr52=) c.37A= (p.Thr13=) n.676A= n.744A= | |
6 | g.45955155G>A | CA3836910 | CLIC5 | c.630C>T (p.Val210=) c.153C>T (p.Val51=) c.36C>T (p.Val12=) n.675C>T n.743C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955155G>C | CA450161465 | CLIC5 | c.630C>G (p.Val210=) c.153C>G (p.Val51=) c.36C>G (p.Val12=) n.675C>G n.743C>G | |
6 | g.45955155G= | CA1625711137 | CLIC5 | c.630C= (p.Val210=) c.153C= (p.Val51=) c.36C= (p.Val12=) n.675C= n.743C= | |
6 | g.45955155G>T | CA450161466 | CLIC5 | c.630C>A (p.Val210=) c.153C>A (p.Val51=) c.36C>A (p.Val12=) n.675C>A n.743C>A | |
6 | g.45955156A>C | CA363965815 | CLIC5 | c.629T>G (p.Val210Gly) c.152T>G (p.Val51Gly) c.35T>G (p.Val12Gly) n.674T>G n.742T>G | |
6 | g.45955156A>G | CA363965818 | CLIC5 | c.629T>C (p.Val210Ala) c.152T>C (p.Val51Ala) c.35T>C (p.Val12Ala) n.674T>C n.742T>C | COSMIC COSMIC COSMIC |
6 | g.45955156A>T | CA363965823 | CLIC5 | c.629T>A (p.Val210Asp) c.152T>A (p.Val51Asp) c.35T>A (p.Val12Asp) n.674T>A n.742T>A | |
6 | g.45955157C>A | CA363965825 | CLIC5 | c.628G>T (p.Val210Phe) c.151G>T (p.Val51Phe) c.34G>T (p.Val12Phe) n.673G>T n.741G>T | |
6 | g.45955157C>G | CA363965826 | CLIC5 | c.628G>C (p.Val210Leu) c.151G>C (p.Val51Leu) c.34G>C (p.Val12Leu) n.673G>C n.741G>C | |
6 | g.45955157C>T | CA363965831 | CLIC5 | c.628G>A (p.Val210Ile) c.151G>A (p.Val51Ile) c.34G>A (p.Val12Ile) n.673G>A n.741G>A | |
6 | g.45955158A= | CA1625711140 | CLIC5 | c.627T= (p.Asn209=) c.150T= (p.Asn50=) c.33T= (p.Asn11=) n.672T= n.740T= | |
6 | g.45955158A>C | CA363965834 | CLIC5 | c.627T>G (p.Asn209Lys) c.150T>G (p.Asn50Lys) c.33T>G (p.Asn11Lys) n.672T>G n.740T>G | |
6 | g.45955158A>G | CA3836911 | CLIC5 | c.627T>C (p.Asn209=) c.150T>C (p.Asn50=) c.33T>C (p.Asn11=) n.672T>C n.740T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955158A>T | CA363965837 | CLIC5 | c.627T>A (p.Asn209Lys) c.150T>A (p.Asn50Lys) c.33T>A (p.Asn11Lys) n.672T>A n.740T>A | |
6 | g.45955159T>A | CA363965842 | CLIC5 | c.626A>T (p.Asn209Ile) c.149A>T (p.Asn50Ile) c.32A>T (p.Asn11Ile) n.671A>T n.739A>T | gnomAD v4 |
6 | g.45955159T>C | CA3836912 | CLIC5 | c.626A>G (p.Asn209Ser) c.149A>G (p.Asn50Ser) c.32A>G (p.Asn11Ser) n.671A>G n.739A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955159T>G | CA363965846 | CLIC5 | c.626A>C (p.Asn209Thr) c.149A>C (p.Asn50Thr) c.32A>C (p.Asn11Thr) n.671A>C n.739A>C | |
6 | g.45955159T= | CA1625711143 | CLIC5 | c.626A= (p.Asn209=) c.149A= (p.Asn50=) c.32A= (p.Asn11=) n.671A= n.739A= | |
6 | g.45955160T>A | CA363965852 | CLIC5 | c.625A>T (p.Asn209Tyr) c.148A>T (p.Asn50Tyr) c.31A>T (p.Asn11Tyr) n.670A>T n.738A>T | |
6 | g.45955160T>C | CA363965857 | CLIC5 | c.625A>G (p.Asn209Asp) c.148A>G (p.Asn50Asp) c.31A>G (p.Asn11Asp) n.670A>G n.738A>G | gnomAD v4 |
6 | g.45955160T>G | CA363965862 | CLIC5 | c.625A>C (p.Asn209His) c.148A>C (p.Asn50His) c.31A>C (p.Asn11His) n.670A>C n.738A>C | |
6 | g.45955161G>A | CA450161467 | CLIC5 | c.624C>T (p.Phe208=) c.147C>T (p.Phe49=) c.30C>T (p.Phe10=) n.669C>T n.737C>T | |
6 | g.45955161G>C | CA363965865 | CLIC5 | c.624C>G (p.Phe208Leu) c.147C>G (p.Phe49Leu) c.30C>G (p.Phe10Leu) n.669C>G n.737C>G | |
6 | g.45955161G>T | CA363965866 | CLIC5 | c.624C>A (p.Phe208Leu) c.147C>A (p.Phe49Leu) c.30C>A (p.Phe10Leu) n.669C>A n.737C>A | gnomAD v4 |
6 | g.45955162A>C | CA363965867 | CLIC5 | c.623T>G (p.Phe208Cys) c.146T>G (p.Phe49Cys) c.29T>G (p.Phe10Cys) n.668T>G n.736T>G | |
6 | g.45955162A>G | CA363965868 | CLIC5 | c.623T>C (p.Phe208Ser) c.146T>C (p.Phe49Ser) c.29T>C (p.Phe10Ser) n.668T>C n.736T>C | |
6 | g.45955162A>T | CA363965871 | CLIC5 | c.623T>A (p.Phe208Tyr) c.146T>A (p.Phe49Tyr) c.29T>A (p.Phe10Tyr) n.668T>A n.736T>A | |
6 | g.45955163A>C | CA363965872 | CLIC5 | c.622T>G (p.Phe208Val) c.145T>G (p.Phe49Val) c.28T>G (p.Phe10Val) n.667T>G n.735T>G | |
6 | g.45955163A>G | CA363965873 | CLIC5 | c.622T>C (p.Phe208Leu) c.145T>C (p.Phe49Leu) c.28T>C (p.Phe10Leu) n.667T>C n.735T>C | gnomAD v4 |
6 | g.45955163A>T | CA363965877 | CLIC5 | c.622T>A (p.Phe208Ile) c.145T>A (p.Phe49Ile) c.28T>A (p.Phe10Ile) n.667T>A n.735T>A | |
6 | g.45955164C>A | CA450161468 | CLIC5 | c.621G>T (p.Val207=) c.144G>T (p.Val48=) c.27G>T (p.Val9=) n.666G>T n.734G>T | |
6 | g.45955164C= | CA1625711146 | CLIC5 | c.621G= (p.Val207=) c.144G= (p.Val48=) c.27G= (p.Val9=) n.666G= n.734G= | |
6 | g.45955164C>G | CA450161469 | CLIC5 | c.621G>C (p.Val207=) c.144G>C (p.Val48=) c.27G>C (p.Val9=) n.666G>C n.734G>C | |
6 | g.45955164C>T | CA138534354 | CLIC5 | c.621G>A (p.Val207=) c.144G>A (p.Val48=) c.27G>A (p.Val9=) n.666G>A n.734G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955165A>C | CA363965888 | CLIC5 | c.620T>G (p.Val207Gly) c.143T>G (p.Val48Gly) c.26T>G (p.Val9Gly) n.665T>G n.733T>G | |
6 | g.45955165A>G | CA363965895 | CLIC5 | c.620T>C (p.Val207Ala) c.143T>C (p.Val48Ala) c.26T>C (p.Val9Ala) n.665T>C n.733T>C | |
6 | g.45955165A>T | CA363965898 | CLIC5 | c.620T>A (p.Val207Glu) c.143T>A (p.Val48Glu) c.26T>A (p.Val9Glu) n.665T>A n.733T>A | gnomAD v4 |
6 | g.45955165_45955168dup | CA2678981750 | CLIC5 | c.617_620dup (p.Phe208ArgfsTer15) c.140_143dup (p.Phe49ArgfsTer15) c.23_26dup (p.Phe10ArgfsTer15) n.662_665dup n.730_733dup | gnomAD v4 |
6 | g.45955166C>A | CA363965901 | CLIC5 | c.619G>T (p.Val207Leu) c.142G>T (p.Val48Leu) c.25G>T (p.Val9Leu) n.664G>T n.732G>T | dbSNP |
6 | g.45955166C= | CA1625711151 | CLIC5 | c.619G= (p.Val207=) c.142G= (p.Val48=) c.25G= (p.Val9=) n.664G= n.732G= | |
6 | g.45955166C>G | CA3836914 | CLIC5 | c.619G>C (p.Val207Leu) c.142G>C (p.Val48Leu) c.25G>C (p.Val9Leu) n.664G>C n.732G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955166C>T | CA3836913 | CLIC5 | c.619G>A (p.Val207Met) c.142G>A (p.Val48Met) c.25G>A (p.Val9Met) n.664G>A n.732G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.45955167G>A | CA3836915 | CLIC5 | c.618C>T (p.Val206=) c.141C>T (p.Val47=) c.24C>T (p.Val8=) n.663C>T n.731C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.45955167G>C | CA450161470 | CLIC5 | c.618C>G (p.Val206=) c.141C>G (p.Val47=) c.24C>G (p.Val8=) n.663C>G n.731C>G | |
6 | g.45955167G= | CA1625711154 | CLIC5 | c.618C= (p.Val206=) c.141C= (p.Val47=) c.24C= (p.Val8=) n.663C= n.731C= | |
6 | g.45955167G>T | CA450161471 | CLIC5 | c.618C>A (p.Val206=) c.141C>A (p.Val47=) c.24C>A (p.Val8=) n.663C>A n.731C>A | dbSNP gnomAD v4 |
6 | g.45955167_45955168delinsGA | CA1625711156 | CLIC5 | c.617_618delinsTC (p.Val206=) c.140_141delinsTC (p.Val47=) c.23_24delinsTC (p.Val8=) n.662_663delinsTC n.730_731delinsTC | |
6 | g.45955168del | CA1088568542 | CLIC5 | c.617del (p.Val206AlafsTer10) c.140del (p.Val47AlafsTer10) c.23del (p.Val8AlafsTer10) n.662del n.730del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.45955168A= | CA1625711158 | CLIC5 | c.617T= (p.Val206=) c.140T= (p.Val47=) c.23T= (p.Val8=) n.662T= n.730T= | |
6 | g.45955168A>C | CA363965911 | CLIC5 | c.617T>G (p.Val206Gly) c.140T>G (p.Val47Gly) c.23T>G (p.Val8Gly) n.662T>G n.730T>G | |
6 | g.45955168A>G | CA363965916 | CLIC5 | c.617T>C (p.Val206Ala) c.140T>C (p.Val47Ala) c.23T>C (p.Val8Ala) n.662T>C n.730T>C | dbSNP |
6 | g.45955168A>T | CA363965919 | CLIC5 | c.617T>A (p.Val206Asp) c.140T>A (p.Val47Asp) c.23T>A (p.Val8Asp) n.662T>A n.730T>A | |
6 | g.45955169C>A | CA363965924 | CLIC5 | c.616G>T (p.Val206Phe) c.139G>T (p.Val47Phe) c.22G>T (p.Val8Phe) n.661G>T n.729G>T | |
6 | g.45955169C= | CA1625711161 | CLIC5 | c.616G= (p.Val206=) c.139G= (p.Val47=) c.22G= (p.Val8=) n.661G= n.729G= | |
6 | g.45955169C>G | CA363965932 | CLIC5 | c.616G>C (p.Val206Leu) c.139G>C (p.Val47Leu) c.22G>C (p.Val8Leu) n.661G>C n.729G>C | |
6 | g.45955169C>T | CA363965935 | CLIC5 | c.616G>A (p.Val206Ile) c.139G>A (p.Val47Ile) c.22G>A (p.Val8Ile) n.661G>A n.729G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955170T>A | CA450161472 | CLIC5 | c.615A>T (p.Gly205=) c.138A>T (p.Gly46=) c.21A>T (p.Gly7=) n.660A>T n.728A>T | |
6 | g.45955170T>C | CA450161473 | CLIC5 | c.615A>G (p.Gly205=) c.138A>G (p.Gly46=) c.21A>G (p.Gly7=) n.660A>G n.728A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955170T>G | CA450161474 | CLIC5 | c.615A>C (p.Gly205=) c.138A>C (p.Gly46=) c.21A>C (p.Gly7=) n.660A>C n.728A>C | |
6 | g.45955170T= | CA1625711165 | CLIC5 | c.615A= (p.Gly205=) c.138A= (p.Gly46=) c.21A= (p.Gly7=) n.660A= n.728A= | |
6 | g.45955171C>A | CA363965943 | CLIC5 | c.614G>T (p.Gly205Val) c.137G>T (p.Gly46Val) c.20G>T (p.Gly7Val) n.659G>T n.727G>T | |
6 | g.45955171C>G | CA363965952 | CLIC5 | c.614G>C (p.Gly205Ala) c.137G>C (p.Gly46Ala) c.20G>C (p.Gly7Ala) n.659G>C n.727G>C | |
6 | g.45955171C>T | CA363965948 | CLIC5 | c.614G>A (p.Gly205Glu) c.137G>A (p.Gly46Glu) c.20G>A (p.Gly7Glu) n.659G>A n.727G>A | |
6 | g.45955172C>A | CA363965963 | CLIC5 | c.613G>T (p.Gly205Ter) c.136G>T (p.Gly46Ter) c.19G>T (p.Gly7Ter) n.658G>T n.726G>T | |
6 | g.45955172C>G | CA363965966 | CLIC5 | c.613G>C (p.Gly205Arg) c.136G>C (p.Gly46Arg) c.19G>C (p.Gly7Arg) n.658G>C n.726G>C | |
6 | g.45955172C>T | CA363965964 | CLIC5 | c.613G>A (p.Gly205Arg) c.136G>A (p.Gly46Arg) c.19G>A (p.Gly7Arg) n.658G>A n.726G>A | gnomAD v4 COSMIC COSMIC |
6 | g.45955173T>A | CA363965974 | CLIC5 | c.612A>T (p.Lys204Asn) c.135A>T (p.Lys45Asn) c.18A>T (p.Lys6Asn) n.657A>T n.725A>T | |
6 | g.45955173T>C | CA450161475 | CLIC5 | c.612A>G (p.Lys204=) c.135A>G (p.Lys45=) c.18A>G (p.Lys6=) n.657A>G n.725A>G | dbSNP |
6 | g.45955173T>G | CA363965978 | CLIC5 | c.612A>C (p.Lys204Asn) c.135A>C (p.Lys45Asn) c.18A>C (p.Lys6Asn) n.657A>C n.725A>C | |
6 | g.45955173T= | CA1625711166 | CLIC5 | c.612A= (p.Lys204=) c.135A= (p.Lys45=) c.18A= (p.Lys6=) n.657A= n.725A= | |
6 | g.45955174T>A | CA363965990 | CLIC5 | c.611A>T (p.Lys204Ile) c.134A>T (p.Lys45Ile) c.17A>T (p.Lys6Ile) n.656A>T n.724A>T | |
6 | g.45955174T>C | CA363965993 | CLIC5 | c.611A>G (p.Lys204Arg) c.134A>G (p.Lys45Arg) c.17A>G (p.Lys6Arg) n.656A>G n.724A>G | |
6 | g.45955174T>G | CA363965999 | CLIC5 | c.611A>C (p.Lys204Thr) c.134A>C (p.Lys45Thr) c.17A>C (p.Lys6Thr) n.656A>C n.724A>C | |
6 | g.45955175T>A | CA363966011 | CLIC5 | c.610A>T (p.Lys204Ter) c.133A>T (p.Lys45Ter) c.16A>T (p.Lys6Ter) n.655A>T n.723A>T | |
6 | g.45955175T>C | CA363966013 | CLIC5 | c.610A>G (p.Lys204Glu) c.133A>G (p.Lys45Glu) c.16A>G (p.Lys6Glu) n.655A>G n.723A>G | gnomAD v4 |
6 | g.45955175T>G | CA363966015 | CLIC5 | c.610A>C (p.Lys204Gln) c.133A>C (p.Lys45Gln) c.16A>C (p.Lys6Gln) n.655A>C n.723A>C | |
6 | g.45955176C>A | CA450161476 | CLIC5 | c.609G>T (p.Leu203=) c.132G>T (p.Leu44=) c.15G>T (p.Leu5=) n.654G>T n.722G>T | |
6 | g.45955176C= | CA1625711170 | CLIC5 | c.609G= (p.Leu203=) c.132G= (p.Leu44=) c.15G= (p.Leu5=) n.654G= n.722G= | |
6 | g.45955176C>G | CA450161477 | CLIC5 | c.609G>C (p.Leu203=) c.132G>C (p.Leu44=) c.15G>C (p.Leu5=) n.654G>C n.722G>C | |
6 | g.45955176C>T | CA450161478 | CLIC5 | c.609G>A (p.Leu203=) c.132G>A (p.Leu44=) c.15G>A (p.Leu5=) n.654G>A n.722G>A | |
6 | g.45955177A>C | CA363966019 | CLIC5 | c.608T>G (p.Leu203Arg) c.131T>G (p.Leu44Arg) c.14T>G (p.Leu5Arg) n.653T>G n.721T>G | |
6 | g.45955177A>G | CA363966020 | CLIC5 | c.608T>C (p.Leu203Pro) c.131T>C (p.Leu44Pro) c.14T>C (p.Leu5Pro) n.653T>C n.721T>C | |
6 | g.45955177A>T | CA363966021 | CLIC5 | c.608T>A (p.Leu203Gln) c.131T>A (p.Leu44Gln) c.14T>A (p.Leu5Gln) n.653T>A n.721T>A | |
6 | g.45955177dup | CA1625711179 | CLIC5 | c.608dup (p.Lys204GlufsTer18) c.131dup (p.Lys45GlufsTer18) c.14dup (p.Lys6GlufsTer18) n.653dup n.721dup | dbSNP |
6 | g.45955178G>A | CA450161479 | CLIC5 | c.607C>T (p.Leu203=) c.130C>T (p.Leu44=) c.13C>T (p.Leu5=) n.652C>T n.720C>T | COSMIC COSMIC COSMIC |
6 | g.45955178G>C | CA363966035 | CLIC5 | c.607C>G (p.Leu203Val) c.130C>G (p.Leu44Val) c.13C>G (p.Leu5Val) n.652C>G n.720C>G | |
6 | g.45955178G>T | CA363966024 | CLIC5 | c.607C>A (p.Leu203Met) c.130C>A (p.Leu44Met) c.13C>A (p.Leu5Met) n.652C>A n.720C>A | |
6 | g.45955179C>A | CA363966044 | CLIC5 | c.606G>T (p.Trp202Cys) c.129G>T (p.Trp43Cys) c.12G>T (p.Trp4Cys) n.651G>T n.719G>T | |
6 | g.45955179C>G | CA363966046 | CLIC5 | c.606G>C (p.Trp202Cys) c.129G>C (p.Trp43Cys) c.12G>C (p.Trp4Cys) n.651G>C n.719G>C | |
6 | g.45955179C>T | CA363966050 | CLIC5 | c.606G>A (p.Trp202Ter) c.129G>A (p.Trp43Ter) c.12G>A (p.Trp4Ter) n.651G>A n.719G>A | gnomAD v4 |
6 | g.45955180C>A | CA363966058 | CLIC5 | c.605G>T (p.Trp202Leu) c.128G>T (p.Trp43Leu) c.11G>T (p.Trp4Leu) n.650G>T n.718G>T | |
6 | g.45955180C>G | CA363966062 | CLIC5 | c.605G>C (p.Trp202Ser) c.128G>C (p.Trp43Ser) c.11G>C (p.Trp4Ser) n.650G>C n.718G>C | |
6 | g.45955180C>T | CA363966066 | CLIC5 | c.605G>A (p.Trp202Ter) c.128G>A (p.Trp43Ter) c.11G>A (p.Trp4Ter) n.650G>A n.718G>A | |
6 | g.45955181A>C | CA363966080 | CLIC5 | c.604T>G (p.Trp202Gly) c.127T>G (p.Trp43Gly) c.10T>G (p.Trp4Gly) n.649T>G n.717T>G | |
6 | g.45955181A>G | CA363966090 | CLIC5 | c.604T>C (p.Trp202Arg) c.127T>C (p.Trp43Arg) c.10T>C (p.Trp4Arg) n.649T>C n.717T>C | gnomAD v4 |
6 | g.45955181A>T | CA363966095 | CLIC5 | c.604T>A (p.Trp202Arg) c.127T>A (p.Trp43Arg) c.10T>A (p.Trp4Arg) n.649T>A n.717T>A | |
6 | g.45955182G>A | CA450161480 | CLIC5 | c.603C>T (p.Leu201=) c.126C>T (p.Leu42=) c.9C>T (p.Leu3=) n.648C>T n.716C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955182G>C | CA450161481 | CLIC5 | c.603C>G (p.Leu201=) c.126C>G (p.Leu42=) c.9C>G (p.Leu3=) n.648C>G n.716C>G | |
6 | g.45955182G= | CA1625711186 | CLIC5 | c.603C= (p.Leu201=) c.126C= (p.Leu42=) c.9C= (p.Leu3=) n.648C= n.716C= | |
6 | g.45955182G>T | CA450161482 | CLIC5 | c.603C>A (p.Leu201=) c.126C>A (p.Leu42=) c.9C>A (p.Leu3=) n.648C>A n.716C>A | |
6 | g.45955183A>C | CA363966099 | CLIC5 | c.602T>G (p.Leu201Arg) c.125T>G (p.Leu42Arg) c.8T>G (p.Leu3Arg) n.647T>G n.715T>G | |
6 | g.45955183A>G | CA363966102 | CLIC5 | c.602T>C (p.Leu201Pro) c.125T>C (p.Leu42Pro) c.8T>C (p.Leu3Pro) n.647T>C n.715T>C | |
6 | g.45955183A>T | CA363966104 | CLIC5 | c.602T>A (p.Leu201His) c.125T>A (p.Leu42His) c.8T>A (p.Leu3His) n.647T>A n.715T>A | |
6 | g.45955184G>A | CA363966109 | CLIC5 | c.601C>T (p.Leu201Phe) c.124C>T (p.Leu42Phe) c.7C>T (p.Leu3Phe) n.646C>T n.714C>T | gnomAD v4 |
6 | g.45955184G>C | CA363966110 | CLIC5 | c.601C>G (p.Leu201Val) c.124C>G (p.Leu42Val) c.7C>G (p.Leu3Val) n.646C>G n.714C>G | dbSNP |
6 | g.45955184G= | CA1625711192 | CLIC5 | c.601C= (p.Leu201=) c.124C= (p.Leu42=) c.7C= (p.Leu3=) n.646C= n.714C= | |
6 | g.45955184G>T | CA363966108 | CLIC5 | c.601C>A (p.Leu201Ile) c.124C>A (p.Leu42Ile) c.7C>A (p.Leu3Ile) n.646C>A n.714C>A | |
6 | g.45955185G>A | CA450161483 | CLIC5 | c.600C>T (p.Ile200=) c.123C>T (p.Ile41=) c.6C>T (p.Ile2=) n.645C>T n.713C>T | |
6 | g.45955185G>C | CA363966112 | CLIC5 | c.600C>G (p.Ile200Met) c.123C>G (p.Ile41Met) c.6C>G (p.Ile2Met) n.645C>G n.713C>G | gnomAD v4 |
6 | g.45955185G= | CA1625711196 | CLIC5 | c.600C= (p.Ile200=) c.123C= (p.Ile41=) c.6C= (p.Ile2=) n.645C= n.713C= | |
6 | g.45955185G>T | CA3836916 | CLIC5 | c.600C>A (p.Ile200=) c.123C>A (p.Ile41=) c.6C>A (p.Ile2=) n.645C>A n.713C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.45955186A>C | CA363966118 | CLIC5 | c.599T>G (p.Ile200Ser) c.122T>G (p.Ile41Ser) c.5T>G (p.Ile2Ser) n.644T>G n.712T>G | |
6 | g.45955186A>G | CA363966122 | CLIC5 | c.599T>C (p.Ile200Thr) c.122T>C (p.Ile41Thr) c.5T>C (p.Ile2Thr) n.644T>C n.712T>C | |
6 | g.45955186A>T | CA363966125 | CLIC5 | c.599T>A (p.Ile200Asn) c.122T>A (p.Ile41Asn) c.5T>A (p.Ile2Asn) n.644T>A n.712T>A | gnomAD v4 |
6 | g.45955187T>A | CA3836917 | CLIC5 | c.598A>T (p.Ile200Phe) c.121A>T (p.Ile41Phe) c.4A>T (p.Ile2Phe) n.643A>T n.711A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955187T>C | CA363966127 | CLIC5 | c.598A>G (p.Ile200Val) c.121A>G (p.Ile41Val) c.4A>G (p.Ile2Val) n.643A>G n.711A>G | gnomAD v4 |
6 | g.45955187T>G | CA363966126 | CLIC5 | c.598A>C (p.Ile200Leu) c.121A>C (p.Ile41Leu) c.4A>C (p.Ile2Leu) n.643A>C n.711A>C | gnomAD v4 |
6 | g.45955187T= | CA1625711204 | CLIC5 | c.598A= (p.Ile200=) c.121A= (p.Ile41=) c.4A= (p.Ile2=) n.643A= n.711A= | |
6 | g.45955188C>A | CA363966131 | CLIC5 | c.597G>T (p.Met199Ile) c.120G>T (p.Met40Ile) c.3G>T (p.Met1Ile) n.642G>T n.710G>T | |
6 | g.45955188C= | CA1625711213 | CLIC5 | c.597G= (p.Met199=) c.120G= (p.Met40=) c.3G= (p.Met1=) n.642G= n.710G= | |
6 | g.45955188C>G | CA363966134 | CLIC5 | c.597G>C (p.Met199Ile) c.120G>C (p.Met40Ile) c.3G>C (p.Met1Ile) n.642G>C n.710G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955188C>T | CA363966137 | CLIC5 | c.597G>A (p.Met199Ile) c.120G>A (p.Met40Ile) c.3G>A (p.Met1Ile) n.642G>A n.710G>A | gnomAD v4 |
6 | g.45955189A>C | CA363966143 | CLIC5 | c.596T>G (p.Met199Arg) c.119T>G (p.Met40Arg) c.2T>G (p.Met1Arg) n.641T>G n.709T>G | |
6 | g.45955189A>G | CA363966148 | CLIC5 | c.596T>C (p.Met199Thr) c.119T>C (p.Met40Thr) c.2T>C (p.Met1Thr) n.641T>C n.709T>C | |
6 | g.45955189A>T | CA363966152 | CLIC5 | c.596T>A (p.Met199Lys) c.119T>A (p.Met40Lys) c.2T>A (p.Met1Lys) n.641T>A n.709T>A | |
6 | g.45955190T>A | CA363966160 | CLIC5 | c.595A>T (p.Met199Leu) c.118A>T (p.Met40Leu) c.1A>T (p.Met1Leu) n.640A>T n.708A>T | |
6 | g.45955190T>C | CA363966172 | CLIC5 | c.595A>G (p.Met199Val) c.118A>G (p.Met40Val) c.1A>G (p.Met1Val) n.640A>G n.708A>G | gnomAD v4 |
6 | g.45955190T>G | CA363966162 | CLIC5 | c.595A>C (p.Met199Leu) c.118A>C (p.Met40Leu) c.1A>C (p.Met1Leu) n.640A>C n.708A>C | |
6 | g.45955191G>A | CA450161484 | CLIC5 | c.594C>T (p.Phe198=) c.117C>T (p.Phe39=) c.-1C>T (n.-1C>T) n.639C>T n.707C>T | |
6 | g.45955191G>C | CA363966177 | CLIC5 | c.594C>G (p.Phe198Leu) c.117C>G (p.Phe39Leu) c.-1C>G (n.-1C>G) n.639C>G n.707C>G | |
6 | g.45955191G>T | CA363966178 | CLIC5 | c.594C>A (p.Phe198Leu) c.117C>A (p.Phe39Leu) c.-1C>A (n.-1C>A) n.639C>A n.707C>A | |
6 | g.45955192A>C | CA363966179 | CLIC5 | c.593T>G (p.Phe198Cys) c.116T>G (p.Phe39Cys) c.-2T>G (n.-2T>G) n.638T>G n.706T>G | |
6 | g.45955192A>G | CA363966182 | CLIC5 | c.593T>C (p.Phe198Ser) c.116T>C (p.Phe39Ser) c.-2T>C (n.-2T>C) n.638T>C n.706T>C | |
6 | g.45955192A>T | CA363966184 | CLIC5 | c.593T>A (p.Phe198Tyr) c.116T>A (p.Phe39Tyr) c.-2T>A (n.-2T>A) n.638T>A n.706T>A | gnomAD v4 |
6 | g.45955193A>C | CA363966196 | CLIC5 | c.592T>G (p.Phe198Val) c.115T>G (p.Phe39Val) c.-3T>G (n.-3T>G) n.637T>G n.705T>G | |
6 | g.45955193A>G | CA363966197 | CLIC5 | c.592T>C (p.Phe198Leu) c.115T>C (p.Phe39Leu) c.-3T>C (n.-3T>C) n.637T>C n.705T>C | gnomAD v4 |
6 | g.45955193A>T | CA363966199 | CLIC5 | c.592T>A (p.Phe198Ile) c.115T>A (p.Phe39Ile) c.-3T>A (n.-3T>A) n.637T>A n.705T>A | |
6 | g.45955194G>A | CA450161487 | CLIC5 | c.591C>T (p.Leu197=) c.114C>T (p.Leu38=) c.-4C>T (n.-4C>T) n.636C>T n.704C>T | |
6 | g.45955194G>C | CA450161486 | CLIC5 | c.591C>G (p.Leu197=) c.114C>G (p.Leu38=) c.-4C>G (n.-4C>G) n.636C>G n.704C>G | |
6 | g.45955194G>T | CA450161485 | CLIC5 | c.591C>A (p.Leu197=) c.114C>A (p.Leu38=) c.-4C>A (n.-4C>A) n.636C>A n.704C>A | |
6 | g.45955195A>C | CA363966202 | CLIC5 | c.590T>G (p.Leu197Arg) c.113T>G (p.Leu38Arg) c.-5T>G (n.-5T>G) n.635T>G n.703T>G | |
6 | g.45955195A>G | CA363966203 | CLIC5 | c.590T>C (p.Leu197Pro) c.113T>C (p.Leu38Pro) c.-5T>C (n.-5T>C) n.635T>C n.703T>C | |
6 | g.45955195A>T | CA363966205 | CLIC5 | c.590T>A (p.Leu197His) c.113T>A (p.Leu38His) c.-5T>A (n.-5T>A) n.635T>A n.703T>A | |
6 | g.45955196G>A | CA363966213 | CLIC5 | c.589C>T (p.Leu197Phe) c.112C>T (p.Leu38Phe) c.-6C>T (n.-6C>T) n.634C>T n.702C>T | gnomAD v4 |
6 | g.45955196G>C | CA363966211 | CLIC5 | c.589C>G (p.Leu197Val) c.112C>G (p.Leu38Val) c.-6C>G (n.-6C>G) n.634C>G n.702C>G | |
6 | g.45955196G>T | CA363966209 | CLIC5 | c.589C>A (p.Leu197Ile) c.112C>A (p.Leu38Ile) c.-6C>A (n.-6C>A) n.634C>A n.702C>A | |
6 | g.45955197G>A | CA450161488 | CLIC5 | c.588C>T (p.Arg196=) c.111C>T (p.Arg37=) c.-7C>T (n.-7C>T) n.633C>T n.701C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.45955197G>C | CA450161490 | CLIC5 | c.588C>G (p.Arg196=) c.111C>G (p.Arg37=) c.-7C>G (n.-7C>G) n.633C>G n.701C>G | |
6 | g.45955197G= | CA1625711219 | CLIC5 | c.588C= (p.Arg196=) c.111C= (p.Arg37=) c.-7C= (n.-7C=) n.633C= n.701C= | |
6 | g.45955197G>T | CA450161489 | CLIC5 | c.588C>A (p.Arg196=) c.111C>A (p.Arg37=) c.-7C>A (n.-7C>A) n.633C>A n.701C>A | |
6 | g.45955198C>A | CA363966223 | CLIC5 | c.587G>T (p.Arg196Leu) c.110G>T (p.Arg37Leu) c.-8G>T (n.-8G>T) n.632G>T n.700G>T | gnomAD v4 |
6 | g.45955198C= | CA1625711222 | CLIC5 | c.587G= (p.Arg196=) c.110G= (p.Arg37=) c.-8G= (n.-8G=) n.632G= n.700G= | |
6 | g.45955198C>G | CA363966228 | CLIC5 | c.587G>C (p.Arg196Pro) c.110G>C (p.Arg37Pro) c.-8G>C (n.-8G>C) n.632G>C n.700G>C | |
6 | g.45955198C>T | CA3836918 | CLIC5 | c.587G>A (p.Arg196His) c.110G>A (p.Arg37His) c.-8G>A (n.-8G>A) n.632G>A n.700G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955199G>A | CA138534355 | CLIC5 | c.586C>T (p.Arg196Cys) c.109C>T (p.Arg37Cys) c.-9C>T (n.-9C>T) n.631C>T n.699C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.45955199G>C | CA363966237 | CLIC5 | c.586C>G (p.Arg196Gly) c.109C>G (p.Arg37Gly) c.-9C>G (n.-9C>G) n.631C>G n.699C>G | |
6 | g.45955199G= | CA1625711233 | CLIC5 | c.586C= (p.Arg196=) c.109C= (p.Arg37=) c.-9C= (n.-9C=) n.631C= n.699C= | |
6 | g.45955199G>T | CA363966231 | CLIC5 | c.586C>A (p.Arg196Ser) c.109C>A (p.Arg37Ser) c.-9C>A (n.-9C>A) n.631C>A n.699C>A | dbSNP gnomAD v4 |
6 | g.45955200C>A | CA363966247 | CLIC5 | c.585G>T (p.Gln195His) c.108G>T (p.Gln36His) c.-10G>T (n.-10G>T) n.630G>T n.698G>T | |
6 | g.45955200C>G | CA363966252 | CLIC5 | c.585G>C (p.Gln195His) c.108G>C (p.Gln36His) c.-10G>C (n.-10G>C) n.630G>C n.698G>C | |
6 | g.45955200C>T | CA450161491 | CLIC5 | c.585G>A (p.Gln195=) c.108G>A (p.Gln36=) c.-10G>A (n.-10G>A) n.630G>A n.698G>A | |
6 | g.45955201T>A | CA363966255 | CLIC5 | c.584A>T (p.Gln195Leu) c.107A>T (p.Gln36Leu) c.-11A>T (n.-11A>T) n.629A>T n.697A>T | |
6 | g.45955201T>C | CA363966257 | CLIC5 | c.584A>G (p.Gln195Arg) c.107A>G (p.Gln36Arg) c.-11A>G (n.-11A>G) n.629A>G n.697A>G | |
6 | g.45955201T>G | CA363966260 | CLIC5 | c.584A>C (p.Gln195Pro) c.107A>C (p.Gln36Pro) c.-11A>C (n.-11A>C) n.629A>C n.697A>C | |
6 | g.45955201_45955205delinsTGAGA | CA1625711236 | CLIC5 | c.580_584delinsTCTCA (p.Ser194=) c.103_107delinsTCTCA (p.Ser35=) c.-15_-11delinsTCTCA (n.-15_-11delinsTCTCA) n.625_629delinsTCTCA n.693_697delinsTCTCA | |
6 | g.45955202G>A | CA363966262 | CLIC5 | c.583C>T (p.Gln195Ter) c.106C>T (p.Gln36Ter) c.-12C>T (n.-12C>T) n.628C>T n.696C>T | COSMIC COSMIC COSMIC |
6 | g.45955202G>C | CA363966264 | CLIC5 | c.583C>G (p.Gln195Glu) c.106C>G (p.Gln36Glu) c.-12C>G (n.-12C>G) n.628C>G n.696C>G | |
6 | g.45955202G>T | CA363966268 | CLIC5 | c.583C>A (p.Gln195Lys) c.106C>A (p.Gln36Lys) c.-12C>A (n.-12C>A) n.628C>A n.696C>A | |
6 | g.45955204_45955207del | CA567013715 | CLIC5 | c.580_583del (p.Gln195AlafsTer4) c.103_106del (p.Gln36AlafsTer4) c.-15_-12del (n.-15_-12del) n.625_628del n.693_696del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955203A>C | CA450161492 | CLIC5 | c.582T>G (p.Ser194=) c.105T>G (p.Ser35=) c.-13T>G (n.-13T>G) n.627T>G n.695T>G | |
6 | g.45955203A>G | CA450161493 | CLIC5 | c.582T>C (p.Ser194=) c.105T>C (p.Ser35=) c.-13T>C (n.-13T>C) n.627T>C n.695T>C | |
6 | g.45955203A>T | CA450161494 | CLIC5 | c.582T>A (p.Ser194=) c.105T>A (p.Ser35=) c.-13T>A (n.-13T>A) n.627T>A n.695T>A | |
6 | g.45955204G>A | CA138534356 | CLIC5 | c.581C>T (p.Ser194Phe) c.104C>T (p.Ser35Phe) c.-14C>T (n.-14C>T) n.626C>T n.694C>T | dbSNP |
6 | g.45955204G>C | CA363966280 | CLIC5 | c.581C>G (p.Ser194Cys) c.104C>G (p.Ser35Cys) c.-14C>G (n.-14C>G) n.626C>G n.694C>G | dbSNP |
6 | g.45955204G= | CA1625711241 | CLIC5 | c.581C= (p.Ser194=) c.104C= (p.Ser35=) c.-14C= (n.-14C=) n.626C= n.694C= | |
6 | g.45955204G>T | CA363966277 | CLIC5 | c.581C>A (p.Ser194Tyr) c.104C>A (p.Ser35Tyr) c.-14C>A (n.-14C>A) n.626C>A n.694C>A | |
6 | g.45955205A>C | CA363966292 | CLIC5 | c.580T>G (p.Ser194Ala) c.103T>G (p.Ser35Ala) c.-15T>G (n.-15T>G) n.625T>G n.693T>G | |
6 | g.45955205A>G | CA363966297 | CLIC5 | c.580T>C (p.Ser194Pro) c.103T>C (p.Ser35Pro) c.-15T>C (n.-15T>C) n.625T>C n.693T>C | |
6 | g.45955205A>T | CA363966299 | CLIC5 | c.580T>A (p.Ser194Thr) c.103T>A (p.Ser35Thr) c.-15T>A (n.-15T>A) n.625T>A n.693T>A | |
6 | g.45955206G>A | CA450161495 | CLIC5 | c.579C>T (p.Phe193=) c.102C>T (p.Phe34=) c.-16C>T (n.-16C>T) n.624C>T n.692C>T | |
6 | g.45955206G>C | CA363966303 | CLIC5 | c.579C>G (p.Phe193Leu) c.102C>G (p.Phe34Leu) c.-16C>G (n.-16C>G) n.624C>G n.692C>G | gnomAD v4 |
6 | g.45955206G>T | CA363966304 | CLIC5 | c.579C>A (p.Phe193Leu) c.102C>A (p.Phe34Leu) c.-16C>A (n.-16C>A) n.624C>A n.692C>A | |
6 | g.45955207A>C | CA363966306 | CLIC5 | c.578T>G (p.Phe193Cys) c.101T>G (p.Phe34Cys) c.-17T>G (n.-17T>G) n.623T>G n.691T>G | |
6 | g.45955207A>G | CA363966312 | CLIC5 | c.578T>C (p.Phe193Ser) c.101T>C (p.Phe34Ser) c.-17T>C (n.-17T>C) n.623T>C n.691T>C | |
6 | g.45955207A>T | CA363966311 | CLIC5 | c.578T>A (p.Phe193Tyr) c.101T>A (p.Phe34Tyr) c.-17T>A (n.-17T>A) n.623T>A n.691T>A | |
6 | g.45955208A>C | CA363966313 | CLIC5 | c.577T>G (p.Phe193Val) c.100T>G (p.Phe34Val) c.-18T>G (n.-18T>G) n.622T>G n.690T>G | |
6 | g.45955208A>G | CA363966315 | CLIC5 | c.577T>C (p.Phe193Leu) c.100T>C (p.Phe34Leu) c.-18T>C (n.-18T>C) n.622T>C n.690T>C | |
6 | g.45955208A>T | CA363966318 | CLIC5 | c.577T>A (p.Phe193Ile) c.100T>A (p.Phe34Ile) c.-18T>A (n.-18T>A) n.622T>A n.690T>A | |
6 | g.45955209A= | CA1625711246 | CLIC5 | c.576T= (p.Pro192=) c.99T= (p.Pro33=) c.-19T= (n.-19T=) n.621T= n.689T= | |
6 | g.45955209A>C | CA450161496 | CLIC5 | c.576T>G (p.Pro192=) c.99T>G (p.Pro33=) c.-19T>G (n.-19T>G) n.621T>G n.689T>G | |
6 | g.45955209A>G | CA450161497 | CLIC5 | c.576T>C (p.Pro192=) c.99T>C (p.Pro33=) c.-19T>C (n.-19T>C) n.621T>C n.689T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.45955209A>T | CA3836919 | CLIC5 | c.576T>A (p.Pro192=) c.99T>A (p.Pro33=) c.-19T>A (n.-19T>A) n.621T>A n.689T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.45955210G>A | CA363966326 | CLIC5 | c.575C>T (p.Pro192Leu) c.98C>T (p.Pro33Leu) c.-20C>T (n.-20C>T) n.620C>T n.688C>T | |
6 | g.45955210G>C | CA363966328 | CLIC5 | c.575C>G (p.Pro192Arg) c.98C>G (p.Pro33Arg) c.-20C>G (n.-20C>G) n.620C>G n.688C>G | |
6 | g.45955210G>T | CA363966330 | CLIC5 | c.575C>A (p.Pro192His) c.98C>A (p.Pro33His) c.-20C>A (n.-20C>A) n.620C>A n.688C>A | |
6 | g.45955211G>A | CA363966335 | CLIC5 | c.574C>T (p.Pro192Ser) c.97C>T (p.Pro33Ser) c.-21C>T (n.-21C>T) n.619C>T n.687C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
6 | g.45955211G>C | CA363966339 | CLIC5 | c.574C>G (p.Pro192Ala) c.97C>G (p.Pro33Ala) c.-21C>G (n.-21C>G) n.619C>G n.687C>G | |
6 | g.45955211G= | CA1625711256 | CLIC5 | c.574C= (p.Pro192=) c.97C= (p.Pro33=) c.-21C= (n.-21C=) n.619C= n.687C= | |
6 | g.45955211G>T | CA363966341 | CLIC5 | c.574C>A (p.Pro192Thr) c.97C>A (p.Pro33Thr) c.-21C>A (n.-21C>A) n.619C>A n.687C>A | |
6 | g.45955212A= | CA1625711263 | CLIC5 | c.573T= (p.Cys191=) c.96T= (p.Cys32=) c.-22T= (n.-22T=) n.618T= n.686T= | |
6 | g.45955212A>C | CA363966342 | CLIC5 | c.573T>G (p.Cys191Trp) c.96T>G (p.Cys32Trp) c.-22T>G (n.-22T>G) n.618T>G n.686T>G | |
6 | g.45955212A>G | CA450161498 | CLIC5 | c.573T>C (p.Cys191=) c.96T>C (p.Cys32=) c.-22T>C (n.-22T>C) n.618T>C n.686T>C | |
6 | g.45955212A>T | CA173970 | CLIC5 | c.573T>A (p.Cys191Ter) c.96T>A (p.Cys32Ter) c.-22T>A (n.-22T>A) n.618T>A n.686T>A | ClinVar dbSNP |
6 | g.45955213C>A | CA363966345 | CLIC5 | c.572G>T (p.Cys191Phe) c.95G>T (p.Cys32Phe) c.-23G>T (n.-23G>T) n.617G>T n.685G>T | |
6 | g.45955213C>G | CA363966368 | CLIC5 | c.572G>C (p.Cys191Ser) c.95G>C (p.Cys32Ser) c.-23G>C (n.-23G>C) n.617G>C n.685G>C | |
6 | g.45955213C>T | CA363966366 | CLIC5 | c.572G>A (p.Cys191Tyr) c.95G>A (p.Cys32Tyr) c.-23G>A (n.-23G>A) n.617G>A n.685G>A | |
6 | g.45955214_45955219del | CA2578635507 | CLIC5 | c.567_572del (p.Asn190_Cys191del) c.90_95del (p.Asn31_Cys32del) c.-28_-23del (n.-28_-23del) n.612_617del n.680_685del | |
6 | g.45955214A>C | CA363966373 | CLIC5 | c.571T>G (p.Cys191Gly) c.94T>G (p.Cys32Gly) c.-24T>G (n.-24T>G) n.616T>G n.684T>G | |
6 | g.45955214A>G | CA363966375 | CLIC5 | c.571T>C (p.Cys191Arg) c.94T>C (p.Cys32Arg) c.-24T>C (n.-24T>C) n.616T>C n.684T>C | |
6 | g.45955214A>T | CA363966378 | CLIC5 | c.571T>A (p.Cys191Ser) c.94T>A (p.Cys32Ser) c.-24T>A (n.-24T>A) n.616T>A n.684T>A |