Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294730T>A | CA342754772 | PKLR | c.717A>T (p.Gln239His) c.624A>T (p.Gln208His) c.876A>T (p.Gln292His) c.525A>T (p.Gln175His) | |
1 | g.155294730T>C | CA30903519 | PKLR | c.717A>G (p.Gln239=) c.624A>G (p.Gln208=) c.876A>G (p.Gln292=) c.525A>G (p.Gln175=) | dbSNP |
1 | g.155294730T>G | CA342754773 | PKLR | c.717A>C (p.Gln239His) c.624A>C (p.Gln208His) c.876A>C (p.Gln292His) c.525A>C (p.Gln175His) | |
1 | g.155294730T= | CA1200112279 | PKLR | c.717A= (p.Gln239=) c.624A= (p.Gln208=) c.876A= (p.Gln292=) c.525A= (p.Gln175=) | |
1 | g.155294731T>A | CA342754776 | PKLR | c.716A>T (p.Gln239Leu) c.623A>T (p.Gln208Leu) c.875A>T (p.Gln292Leu) c.524A>T (p.Gln175Leu) | |
1 | g.155294731T>C | CA342754777 | PKLR | c.716A>G (p.Gln239Arg) c.623A>G (p.Gln208Arg) c.875A>G (p.Gln292Arg) c.524A>G (p.Gln175Arg) | |
1 | g.155294731T>G | CA342754779 | PKLR | c.716A>C (p.Gln239Pro) c.623A>C (p.Gln208Pro) c.875A>C (p.Gln292Pro) c.524A>C (p.Gln175Pro) | ClinVar |
1 | g.155294731T= | CA1200112280 | PKLR | c.716A= (p.Gln239=) c.623A= (p.Gln208=) c.875A= (p.Gln292=) c.524A= (p.Gln175=) | |
1 | g.155294732G>A | CA342754781 | PKLR | c.715C>T (p.Gln239Ter) c.622C>T (p.Gln208Ter) c.874C>T (p.Gln292Ter) c.523C>T (p.Gln175Ter) | gnomAD v4 |
1 | g.155294732G>C | CA342754783 | PKLR | c.715C>G (p.Gln239Glu) c.622C>G (p.Gln208Glu) c.874C>G (p.Gln292Glu) c.523C>G (p.Gln175Glu) | |
1 | g.155294732G>T | CA342754785 | PKLR | c.715C>A (p.Gln239Lys) c.622C>A (p.Gln208Lys) c.874C>A (p.Gln292Lys) c.523C>A (p.Gln175Lys) | gnomAD v4 |
1 | g.155294733_155294734dup | CA526668871 | PKLR | c.714_715dup (p.Gln239ProfsTer15) c.621_622dup (p.Gln208ProfsTer15) c.873_874dup (p.Gln292ProfsTer15) c.522_523dup (p.Gln175ProfsTer15) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294733G>A | CA421020445 | PKLR | c.714C>T (p.Thr238=) c.621C>T (p.Thr207=) c.873C>T (p.Thr291=) c.522C>T (p.Thr174=) | |
1 | g.155294733G>C | CA421020446 | PKLR | c.714C>G (p.Thr238=) c.621C>G (p.Thr207=) c.873C>G (p.Thr291=) c.522C>G (p.Thr174=) | |
1 | g.155294733G>T | CA421020447 | PKLR | c.714C>A (p.Thr238=) c.621C>A (p.Thr207=) c.873C>A (p.Thr291=) c.522C>A (p.Thr174=) | |
1 | g.155294734G>A | CA342754787 | PKLR | c.713C>T (p.Thr238Ile) c.620C>T (p.Thr207Ile) c.872C>T (p.Thr291Ile) c.521C>T (p.Thr174Ile) | |
1 | g.155294734G>C | CA342754789 | PKLR | c.713C>G (p.Thr238Ser) c.620C>G (p.Thr207Ser) c.872C>G (p.Thr291Ser) c.521C>G (p.Thr174Ser) | |
1 | g.155294734G>T | CA342754802 | PKLR | c.713C>A (p.Thr238Asn) c.620C>A (p.Thr207Asn) c.872C>A (p.Thr291Asn) c.521C>A (p.Thr174Asn) | gnomAD v4 |
1 | g.155294735T>A | CA342754807 | PKLR | c.712A>T (p.Thr238Ser) c.619A>T (p.Thr207Ser) c.871A>T (p.Thr291Ser) c.520A>T (p.Thr174Ser) | |
1 | g.155294735T>C | CA342754806 | PKLR | c.712A>G (p.Thr238Ala) c.619A>G (p.Thr207Ala) c.871A>G (p.Thr291Ala) c.520A>G (p.Thr174Ala) | |
1 | g.155294735T>G | CA342754804 | PKLR | c.712A>C (p.Thr238Pro) c.619A>C (p.Thr207Pro) c.871A>C (p.Thr291Pro) c.520A>C (p.Thr174Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294735T= | CA1200112281 | PKLR | c.712A= (p.Thr238=) c.619A= (p.Thr207=) c.871A= (p.Thr291=) c.520A= (p.Thr174=) | |
1 | g.155294736C>A | CA421020448 | PKLR | c.711G>T (p.Val237=) c.618G>T (p.Val206=) c.870G>T (p.Val290=) c.519G>T (p.Val173=) | |
1 | g.155294736C>G | CA421020449 | PKLR | c.711G>C (p.Val237=) c.618G>C (p.Val206=) c.870G>C (p.Val290=) c.519G>C (p.Val173=) | |
1 | g.155294736C>T | CA421020450 | PKLR | c.711G>A (p.Val237=) c.618G>A (p.Val206=) c.870G>A (p.Val290=) c.519G>A (p.Val173=) | |
1 | g.155294737A>C | CA342754811 | PKLR | c.710T>G (p.Val237Gly) c.617T>G (p.Val206Gly) c.869T>G (p.Val290Gly) c.518T>G (p.Val173Gly) | |
1 | g.155294737A>G | CA342754812 | PKLR | c.710T>C (p.Val237Ala) c.617T>C (p.Val206Ala) c.869T>C (p.Val290Ala) c.518T>C (p.Val173Ala) | |
1 | g.155294737A>T | CA342754814 | PKLR | c.710T>A (p.Val237Glu) c.617T>A (p.Val206Glu) c.869T>A (p.Val290Glu) c.518T>A (p.Val173Glu) | |
1 | g.155294738C>A | CA342754816 | PKLR | c.709G>T (p.Val237Leu) c.616G>T (p.Val206Leu) c.868G>T (p.Val290Leu) c.517G>T (p.Val173Leu) | |
1 | g.155294738C= | CA1200112282 | PKLR | c.709G= (p.Val237=) c.616G= (p.Val206=) c.868G= (p.Val290=) c.517G= (p.Val173=) | |
1 | g.155294738C>G | CA342754818 | PKLR | c.709G>C (p.Val237Leu) c.616G>C (p.Val206Leu) c.868G>C (p.Val290Leu) c.517G>C (p.Val173Leu) | |
1 | g.155294738C>T | CA342754820 | PKLR | c.709G>A (p.Val237Met) c.616G>A (p.Val206Met) c.868G>A (p.Val290Met) c.517G>A (p.Val173Met) | dbSNP |
1 | g.155294739C>A | CA421020451 | PKLR | c.708G>T (p.Leu236=) c.615G>T (p.Leu205=) c.867G>T (p.Leu289=) c.516G>T (p.Leu172=) | |
1 | g.155294739C= | CA1200112283 | PKLR | c.708G= (p.Leu236=) c.615G= (p.Leu205=) c.867G= (p.Leu289=) c.516G= (p.Leu172=) | |
1 | g.155294739C>G | CA30903523 | PKLR | c.708G>C (p.Leu236=) c.615G>C (p.Leu205=) c.867G>C (p.Leu289=) c.516G>C (p.Leu172=) | dbSNP gnomAD v4 |
1 | g.155294739C>T | CA421020452 | PKLR | c.708G>A (p.Leu236=) c.615G>A (p.Leu205=) c.867G>A (p.Leu289=) c.516G>A (p.Leu172=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294740A= | CA1200112284 | PKLR | c.707T= (p.Leu236=) c.614T= (p.Leu205=) c.866T= (p.Leu289=) c.515T= (p.Leu172=) | |
1 | g.155294740A>C | CA342754826 | PKLR | c.707T>G (p.Leu236Arg) c.614T>G (p.Leu205Arg) c.866T>G (p.Leu289Arg) c.515T>G (p.Leu172Arg) | |
1 | g.155294740A>G | CA30903524 | PKLR | c.707T>C (p.Leu236Pro) c.614T>C (p.Leu205Pro) c.866T>C (p.Leu289Pro) c.515T>C (p.Leu172Pro) | dbSNP |
1 | g.155294740A>T | CA342754824 | PKLR | c.707T>A (p.Leu236Gln) c.614T>A (p.Leu205Gln) c.866T>A (p.Leu289Gln) c.515T>A (p.Leu172Gln) | |
1 | g.155294741G>A | CA421020453 | PKLR | c.706C>T (p.Leu236=) c.613C>T (p.Leu205=) c.865C>T (p.Leu289=) c.514C>T (p.Leu172=) | |
1 | g.155294741G>C | CA342754828 | PKLR | c.706C>G (p.Leu236Val) c.613C>G (p.Leu205Val) c.865C>G (p.Leu289Val) c.514C>G (p.Leu172Val) | |
1 | g.155294741G>T | CA342754830 | PKLR | c.706C>A (p.Leu236Met) c.613C>A (p.Leu205Met) c.865C>A (p.Leu289Met) c.514C>A (p.Leu172Met) | |
1 | g.155294742T>A | CA421020456 | PKLR | c.705A>T (p.Gly235=) c.612A>T (p.Gly204=) c.864A>T (p.Gly288=) c.513A>T (p.Gly171=) | gnomAD v4 |
1 | g.155294742T>C | CA421020455 | PKLR | c.705A>G (p.Gly235=) c.612A>G (p.Gly204=) c.864A>G (p.Gly288=) c.513A>G (p.Gly171=) | |
1 | g.155294742T>G | CA421020454 | PKLR | c.705A>C (p.Gly235=) c.612A>C (p.Gly204=) c.864A>C (p.Gly288=) c.513A>C (p.Gly171=) | gnomAD v4 |
1 | g.155294743C>A | CA30903525 | PKLR | c.704G>T (p.Gly235Val) c.611G>T (p.Gly204Val) c.863G>T (p.Gly288Val) c.512G>T (p.Gly171Val) | dbSNP gnomAD v4 |
1 | g.155294743C= | CA1200112285 | PKLR | c.704G= (p.Gly235=) c.611G= (p.Gly204=) c.863G= (p.Gly288=) c.512G= (p.Gly171=) | |
1 | g.155294743C>G | CA342754833 | PKLR | c.704G>C (p.Gly235Ala) c.611G>C (p.Gly204Ala) c.863G>C (p.Gly288Ala) c.512G>C (p.Gly171Ala) | |
1 | g.155294743C>T | CA342754835 | PKLR | c.704G>A (p.Gly235Glu) c.611G>A (p.Gly204Glu) c.863G>A (p.Gly288Glu) c.512G>A (p.Gly171Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294744C>A | CA342754841 | PKLR | c.703G>T (p.Gly235Ter) c.610G>T (p.Gly204Ter) c.862G>T (p.Gly288Ter) c.511G>T (p.Gly171Ter) | |
1 | g.155294744C>G | CA342754838 | PKLR | c.703G>C (p.Gly235Arg) c.610G>C (p.Gly204Arg) c.862G>C (p.Gly288Arg) c.511G>C (p.Gly171Arg) | |
1 | g.155294744C>T | CA342754839 | PKLR | c.703G>A (p.Gly235Arg) c.610G>A (p.Gly204Arg) c.862G>A (p.Gly288Arg) c.511G>A (p.Gly171Arg) | gnomAD v4 |
1 | g.155294745C>A | CA342754844 | PKLR | c.702G>T (p.Glu234Asp) c.609G>T (p.Glu203Asp) c.861G>T (p.Glu287Asp) c.510G>T (p.Glu170Asp) | |
1 | g.155294745C>G | CA342754845 | PKLR | c.702G>C (p.Glu234Asp) c.609G>C (p.Glu203Asp) c.861G>C (p.Glu287Asp) c.510G>C (p.Glu170Asp) | gnomAD v4 |
1 | g.155294745C>T | CA421020457 | PKLR | c.702G>A (p.Glu234=) c.609G>A (p.Glu203=) c.861G>A (p.Glu287=) c.510G>A (p.Glu170=) | gnomAD v4 |
1 | g.155294746T>A | CA342754847 | PKLR | c.701A>T (p.Glu234Val) c.608A>T (p.Glu203Val) c.860A>T (p.Glu287Val) c.509A>T (p.Glu170Val) | |
1 | g.155294746T>C | CA342754849 | PKLR | c.701A>G (p.Glu234Gly) c.608A>G (p.Glu203Gly) c.860A>G (p.Glu287Gly) c.509A>G (p.Glu170Gly) | gnomAD v4 |
1 | g.155294746T>G | CA342754851 | PKLR | c.701A>C (p.Glu234Ala) c.608A>C (p.Glu203Ala) c.860A>C (p.Glu287Ala) c.509A>C (p.Glu170Ala) | |
1 | g.155294747C>A | CA342754853 | PKLR | c.700G>T (p.Glu234Ter) c.607G>T (p.Glu203Ter) c.859G>T (p.Glu287Ter) c.508G>T (p.Glu170Ter) | |
1 | g.155294747C>G | CA342754855 | PKLR | c.700G>C (p.Glu234Gln) c.607G>C (p.Glu203Gln) c.859G>C (p.Glu287Gln) c.508G>C (p.Glu170Gln) | |
1 | g.155294747C>T | CA342754857 | PKLR | c.700G>A (p.Glu234Lys) c.607G>A (p.Glu203Lys) c.859G>A (p.Glu287Lys) c.508G>A (p.Glu170Lys) | |
1 | g.155294748T>A | CA421020458 | PKLR | c.699A>T (p.Pro233=) c.606A>T (p.Pro202=) c.858A>T (p.Pro286=) c.507A>T (p.Pro169=) | |
1 | g.155294748T>C | CA1144230 | PKLR | c.699A>G (p.Pro233=) c.606A>G (p.Pro202=) c.858A>G (p.Pro286=) c.507A>G (p.Pro169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294748T>G | CA421020459 | PKLR | c.699A>C (p.Pro233=) c.606A>C (p.Pro202=) c.858A>C (p.Pro286=) c.507A>C (p.Pro169=) | |
1 | g.155294748T= | CA1200112286 | PKLR | c.699A= (p.Pro233=) c.606A= (p.Pro202=) c.858A= (p.Pro286=) c.507A= (p.Pro169=) | |
1 | g.155294749G>A | CA342754861 | PKLR | c.698C>T (p.Pro233Leu) c.605C>T (p.Pro202Leu) c.857C>T (p.Pro286Leu) c.506C>T (p.Pro169Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294749G>C | CA342754863 | PKLR | c.698C>G (p.Pro233Arg) c.605C>G (p.Pro202Arg) c.857C>G (p.Pro286Arg) c.506C>G (p.Pro169Arg) | |
1 | g.155294749G= | CA1200112287 | PKLR | c.698C= (p.Pro233=) c.605C= (p.Pro202=) c.857C= (p.Pro286=) c.506C= (p.Pro169=) | |
1 | g.155294749G>T | CA342754865 | PKLR | c.698C>A (p.Pro233Gln) c.605C>A (p.Pro202Gln) c.857C>A (p.Pro286Gln) c.506C>A (p.Pro169Gln) | |
1 | g.155294750G>A | CA342754870 | PKLR | c.697C>T (p.Pro233Ser) c.604C>T (p.Pro202Ser) c.856C>T (p.Pro286Ser) c.505C>T (p.Pro169Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294750G>C | CA342754867 | PKLR | c.697C>G (p.Pro233Ala) c.604C>G (p.Pro202Ala) c.856C>G (p.Pro286Ala) c.505C>G (p.Pro169Ala) | |
1 | g.155294750G= | CA1200112288 | PKLR | c.697C= (p.Pro233=) c.604C= (p.Pro202=) c.856C= (p.Pro286=) c.505C= (p.Pro169=) | |
1 | g.155294750G>T | CA342754868 | PKLR | c.697C>A (p.Pro233Thr) c.604C>A (p.Pro202Thr) c.856C>A (p.Pro286Thr) c.505C>A (p.Pro169Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294751G>A | CA421020461 | PKLR | c.696C>T (p.Gly232=) c.603C>T (p.Gly201=) c.855C>T (p.Gly285=) c.504C>T (p.Gly168=) | dbSNP |
1 | g.155294751G>C | CA421020462 | PKLR | c.696C>G (p.Gly232=) c.603C>G (p.Gly201=) c.855C>G (p.Gly285=) c.504C>G (p.Gly168=) | |
1 | g.155294751G= | CA1200112289 | PKLR | c.696C= (p.Gly232=) c.603C= (p.Gly201=) c.855C= (p.Gly285=) c.504C= (p.Gly168=) | |
1 | g.155294751G>T | CA421020463 | PKLR | c.696C>A (p.Gly232=) c.603C>A (p.Gly201=) c.855C>A (p.Gly285=) c.504C>A (p.Gly168=) | gnomAD v4 |
1 | g.155294752C>A | CA342754873 | PKLR | c.695G>T (p.Gly232Val) c.602G>T (p.Gly201Val) c.854G>T (p.Gly285Val) c.503G>T (p.Gly168Val) | |
1 | g.155294752C= | CA1200112290 | PKLR | c.695G= (p.Gly232=) c.602G= (p.Gly201=) c.854G= (p.Gly285=) c.503G= (p.Gly168=) | |
1 | g.155294752C>G | CA342754876 | PKLR | c.695G>C (p.Gly232Ala) c.602G>C (p.Gly201Ala) c.854G>C (p.Gly285Ala) c.503G>C (p.Gly168Ala) | |
1 | g.155294752C>T | CA342754875 | PKLR | c.695G>A (p.Gly232Asp) c.602G>A (p.Gly201Asp) c.854G>A (p.Gly285Asp) c.503G>A (p.Gly168Asp) | dbSNP gnomAD v2 |
1 | g.155294753C>A | CA342754879 | PKLR | c.695-1G>T (n.695-1G>T) c.602-1G>T (n.602-1G>T) c.854-1G>T (n.854-1G>T) c.503-1G>T (n.503-1G>T) | |
1 | g.155294753C>G | CA342754881 | PKLR | c.695-1G>C (n.695-1G>C) c.602-1G>C (n.602-1G>C) c.854-1G>C (n.854-1G>C) c.503-1G>C (n.503-1G>C) | gnomAD v4 |
1 | g.155294753C>T | CA342754882 | PKLR | c.695-1G>A (n.695-1G>A) c.602-1G>A (n.602-1G>A) c.854-1G>A (n.854-1G>A) c.503-1G>A (n.503-1G>A) | ClinVar |
1 | g.155294754T>A | CA30903533 | PKLR | c.695-2A>T (n.695-2A>T) c.602-2A>T (n.602-2A>T) c.854-2A>T (n.854-2A>T) c.503-2A>T (n.503-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294754T>C | CA342754886 | PKLR | c.695-2A>G (n.695-2A>G) c.602-2A>G (n.602-2A>G) c.854-2A>G (n.854-2A>G) c.503-2A>G (n.503-2A>G) | |
1 | g.155294754T>G | CA342754887 | PKLR | c.695-2A>C (n.695-2A>C) c.602-2A>C (n.602-2A>C) c.854-2A>C (n.854-2A>C) c.503-2A>C (n.503-2A>C) | |
1 | g.155294754T= | CA1149107127 | PKLR | c.695-2A= (n.695-2A=) c.602-2A= (n.602-2A=) c.854-2A= (n.854-2A=) c.503-2A= (n.503-2A=) | |
1 | g.155294755G>C | CA30903539 | PKLR | c.695-3C>G (n.695-3C>G) c.602-3C>G (n.602-3C>G) c.854-3C>G (n.854-3C>G) c.503-3C>G (n.503-3C>G) | ClinVar dbSNP gnomAD v4 |
1 | g.155294755G= | CA1200112291 | PKLR | c.695-3C= (n.695-3C=) c.602-3C= (n.602-3C=) c.854-3C= (n.854-3C=) c.503-3C= (n.503-3C=) | |
1 | g.155294756C>A | CA1144231 | PKLR | c.695-4G>T (n.695-4G>T) c.602-4G>T (n.602-4G>T) c.854-4G>T (n.854-4G>T) c.503-4G>T (n.503-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294756C= | CA1147760318 | PKLR | c.695-4G= (n.695-4G=) c.602-4G= (n.602-4G=) c.854-4G= (n.854-4G=) c.503-4G= (n.503-4G=) | |
1 | g.155294756C>T | CA526668872 | PKLR | c.695-4G>A (n.695-4G>A) c.602-4G>A (n.602-4G>A) c.854-4G>A (n.854-4G>A) c.503-4G>A (n.503-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294757G>A | CA2648269501 | PKLR | c.695-5C>T (n.695-5C>T) c.602-5C>T (n.602-5C>T) c.854-5C>T (n.854-5C>T) c.503-5C>T (n.503-5C>T) | gnomAD v4 |
1 | g.155294757G>C | CA2648269502 | PKLR | c.695-5C>G (n.695-5C>G) c.602-5C>G (n.602-5C>G) c.854-5C>G (n.854-5C>G) c.503-5C>G (n.503-5C>G) | gnomAD v4 |
1 | g.155294757G= | CA1200112292 | PKLR | c.695-5C= (n.695-5C=) c.602-5C= (n.602-5C=) c.854-5C= (n.854-5C=) c.503-5C= (n.503-5C=) | |
1 | g.155294757G>T | CA526668873 | PKLR | c.695-5C>A (n.695-5C>A) c.602-5C>A (n.602-5C>A) c.854-5C>A (n.854-5C>A) c.503-5C>A (n.503-5C>A) | dbSNP gnomAD v2 |
1 | g.155294758G>A | CA2746213719 | PKLR | c.695-6C>T (n.695-6C>T) c.602-6C>T (n.602-6C>T) c.854-6C>T (n.854-6C>T) c.503-6C>T (n.503-6C>T) | |
1 | g.155294760C= | CA1200112293 | PKLR | c.695-8G= (n.695-8G=) c.602-8G= (n.602-8G=) c.854-8G= (n.854-8G=) c.503-8G= (n.503-8G=) | |
1 | g.155294760C>G | CA2648269505 | PKLR | c.695-8G>C (n.695-8G>C) c.602-8G>C (n.602-8G>C) c.854-8G>C (n.854-8G>C) c.503-8G>C (n.503-8G>C) | gnomAD v4 |
1 | g.155294760C>T | CA1144232 | PKLR | c.695-8G>A (n.695-8G>A) c.602-8G>A (n.602-8G>A) c.854-8G>A (n.854-8G>A) c.503-8G>A (n.503-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294761A>G | CA2573918401 | PKLR | c.695-9T>C (n.695-9T>C) c.602-9T>C (n.602-9T>C) c.854-9T>C (n.854-9T>C) c.503-9T>C (n.503-9T>C) | gnomAD v4 |
1 | g.155294762_155294790delinsTGGAAAGAGCCAGCTGCGGTCAGGGGTGA | CA1200112294 | PKLR | c.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.695-38_695-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.602-38_602-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.854-38_854-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) c.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA (n.503-38_503-10delinsTCACCCCTGACCGCAGCTGGCTCTTTCCA) | |
1 | g.155294766_155294793del | CA1144233 | PKLR | c.695-38_695-11del (n.695-38_695-11del) c.602-38_602-11del (n.602-38_602-11del) c.854-38_854-11del (n.854-38_854-11del) c.503-38_503-11del (n.503-38_503-11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294764G>A | CA2648269509 | PKLR | c.695-12C>T (n.695-12C>T) c.602-12C>T (n.602-12C>T) c.854-12C>T (n.854-12C>T) c.503-12C>T (n.503-12C>T) | gnomAD v4 |
1 | g.155294764G>T | CA2648269510 | PKLR | c.695-12C>A (n.695-12C>A) c.602-12C>A (n.602-12C>A) c.854-12C>A (n.854-12C>A) c.503-12C>A (n.503-12C>A) | gnomAD v4 |
1 | g.155294764_155294765delinsGA | CA1200112295 | PKLR | c.695-13_695-12delinsTC (n.695-13_695-12delinsTC) c.602-13_602-12delinsTC (n.602-13_602-12delinsTC) c.854-13_854-12delinsTC (n.854-13_854-12delinsTC) c.503-13_503-12delinsTC (n.503-13_503-12delinsTC) | |
1 | g.155294765A= | CA1200112296 | PKLR | c.695-13T= (n.695-13T=) c.602-13T= (n.602-13T=) c.854-13T= (n.854-13T=) c.503-13T= (n.503-13T=) | |
1 | g.155294765A>G | CA30903558 | PKLR | c.695-13T>C (n.695-13T>C) c.602-13T>C (n.602-13T>C) c.854-13T>C (n.854-13T>C) c.503-13T>C (n.503-13T>C) | dbSNP |
1 | g.155294765A>T | CA2648269516 | PKLR | c.695-13T>A (n.695-13T>A) c.602-13T>A (n.602-13T>A) c.854-13T>A (n.854-13T>A) c.503-13T>A (n.503-13T>A) | gnomAD v4 |
1 | g.155294767del | CA1144234 | PKLR | c.695-13del (n.695-13del) c.602-13del (n.602-13del) c.854-13del (n.854-13del) c.503-13del (n.503-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294767A>G | CA2573568427 | PKLR | c.695-15T>C (n.695-15T>C) c.602-15T>C (n.602-15T>C) c.854-15T>C (n.854-15T>C) c.503-15T>C (n.503-15T>C) | |
1 | g.155294768G>A | CA2573568428 | PKLR | c.695-16C>T (n.695-16C>T) c.602-16C>T (n.602-16C>T) c.854-16C>T (n.854-16C>T) c.503-16C>T (n.503-16C>T) | gnomAD v4 |
1 | g.155294768_155294772delinsGAGCC | CA1200112297 | PKLR | c.695-20_695-16delinsGGCTC (n.695-20_695-16delinsGGCTC) c.602-20_602-16delinsGGCTC (n.602-20_602-16delinsGGCTC) c.854-20_854-16delinsGGCTC (n.854-20_854-16delinsGGCTC) c.503-20_503-16delinsGGCTC (n.503-20_503-16delinsGGCTC) | |
1 | g.155294772_155294775del | CA526668874 | PKLR | c.695-20_695-17del (n.695-20_695-17del) c.602-20_602-17del (n.602-20_602-17del) c.854-20_854-17del (n.854-20_854-17del) c.503-20_503-17del (n.503-20_503-17del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294771C= | CA1200112299 | PKLR | c.695-19G= (n.695-19G=) c.602-19G= (n.602-19G=) c.854-19G= (n.854-19G=) c.503-19G= (n.503-19G=) | |
1 | g.155294771C>T | CA1200112298 | PKLR | c.695-19G>A (n.695-19G>A) c.602-19G>A (n.602-19G>A) c.854-19G>A (n.854-19G>A) c.503-19G>A (n.503-19G>A) | dbSNP |
1 | g.155294774G>A | CA1144235 | PKLR | c.695-22C>T (n.695-22C>T) c.602-22C>T (n.602-22C>T) c.854-22C>T (n.854-22C>T) c.503-22C>T (n.503-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294774G>C | CA2648269523 | PKLR | c.695-22C>G (n.695-22C>G) c.602-22C>G (n.602-22C>G) c.854-22C>G (n.854-22C>G) c.503-22C>G (n.503-22C>G) | gnomAD v4 |
1 | g.155294774G= | CA1200112300 | PKLR | c.695-22C= (n.695-22C=) c.602-22C= (n.602-22C=) c.854-22C= (n.854-22C=) c.503-22C= (n.503-22C=) | |
1 | g.155294774G>T | CA2573918405 | PKLR | c.695-22C>A (n.695-22C>A) c.602-22C>A (n.602-22C>A) c.854-22C>A (n.854-22C>A) c.503-22C>A (n.503-22C>A) | |
1 | g.155294775C>A | CA2648269524 | PKLR | c.695-23G>T (n.695-23G>T) c.602-23G>T (n.602-23G>T) c.854-23G>T (n.854-23G>T) c.503-23G>T (n.503-23G>T) | gnomAD v4 |
1 | g.155294777G>A | CA2573568429 | PKLR | c.695-25C>T (n.695-25C>T) c.602-25C>T (n.602-25C>T) c.854-25C>T (n.854-25C>T) c.503-25C>T (n.503-25C>T) | |
1 | g.155294778C>A | CA1144236 | PKLR | c.695-26G>T (n.695-26G>T) c.602-26G>T (n.602-26G>T) c.854-26G>T (n.854-26G>T) c.503-26G>T (n.503-26G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294778C= | CA1200112301 | PKLR | c.695-26G= (n.695-26G=) c.602-26G= (n.602-26G=) c.854-26G= (n.854-26G=) c.503-26G= (n.503-26G=) | |
1 | g.155294778C>T | CA2648269525 | PKLR | c.695-26G>A (n.695-26G>A) c.602-26G>A (n.602-26G>A) c.854-26G>A (n.854-26G>A) c.503-26G>A (n.503-26G>A) | gnomAD v4 |
1 | g.155294779G>C | CA526668875 | PKLR | c.695-27C>G (n.695-27C>G) c.602-27C>G (n.602-27C>G) c.854-27C>G (n.854-27C>G) c.503-27C>G (n.503-27C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294779G= | CA1200112302 | PKLR | c.695-27C= (n.695-27C=) c.602-27C= (n.602-27C=) c.854-27C= (n.854-27C=) c.503-27C= (n.503-27C=) | |
1 | g.155294780G>A | CA526668876 | PKLR | c.695-28C>T (n.695-28C>T) c.602-28C>T (n.602-28C>T) c.854-28C>T (n.854-28C>T) c.503-28C>T (n.503-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294780G>C | CA2648269528 | PKLR | c.695-28C>G (n.695-28C>G) c.602-28C>G (n.602-28C>G) c.854-28C>G (n.854-28C>G) c.503-28C>G (n.503-28C>G) | gnomAD v4 |
1 | g.155294780G= | CA1200112303 | PKLR | c.695-28C= (n.695-28C=) c.602-28C= (n.602-28C=) c.854-28C= (n.854-28C=) c.503-28C= (n.503-28C=) | |
1 | g.155294782C>T | CA2573918407 | PKLR | c.695-30G>A (n.695-30G>A) c.602-30G>A (n.602-30G>A) c.854-30G>A (n.854-30G>A) c.503-30G>A (n.503-30G>A) | gnomAD v4 |
1 | g.155294782_155294783delinsCA | CA1200112304 | PKLR | c.695-31_695-30delinsTG (n.695-31_695-30delinsTG) c.602-31_602-30delinsTG (n.602-31_602-30delinsTG) c.854-31_854-30delinsTG (n.854-31_854-30delinsTG) c.503-31_503-30delinsTG (n.503-31_503-30delinsTG) | |
1 | g.155294783del | CA526668877 | PKLR | c.695-31del (n.695-31del) c.602-31del (n.602-31del) c.854-31del (n.854-31del) c.503-31del (n.503-31del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294783A>T | CA2648269534 | PKLR | c.695-31T>A (n.695-31T>A) c.602-31T>A (n.602-31T>A) c.854-31T>A (n.854-31T>A) c.503-31T>A (n.503-31T>A) | gnomAD v4 |
1 | g.155294783_155294784delinsAG | CA1200112305 | PKLR | c.695-32_695-31delinsCT (n.695-32_695-31delinsCT) c.602-32_602-31delinsCT (n.602-32_602-31delinsCT) c.854-32_854-31delinsCT (n.854-32_854-31delinsCT) c.503-32_503-31delinsCT (n.503-32_503-31delinsCT) | |
1 | g.155294784G>A | CA2648269538 | PKLR | c.695-32C>T (n.695-32C>T) c.602-32C>T (n.602-32C>T) c.854-32C>T (n.854-32C>T) c.503-32C>T (n.503-32C>T) | gnomAD v4 |
1 | g.155294787del | CA526668878 | PKLR | c.695-32del (n.695-32del) c.602-32del (n.602-32del) c.854-32del (n.854-32del) c.503-32del (n.503-32del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294785G>A | CA1144237 | PKLR | c.695-33C>T (n.695-33C>T) c.602-33C>T (n.602-33C>T) c.854-33C>T (n.854-33C>T) c.503-33C>T (n.503-33C>T) | dbSNP ExAC gnomAD v2 |
1 | g.155294785G= | CA1200112306 | PKLR | c.695-33C= (n.695-33C=) c.602-33C= (n.602-33C=) c.854-33C= (n.854-33C=) c.503-33C= (n.503-33C=) | |
1 | g.155294786G>A | CA526668879 | PKLR | c.695-34C>T (n.695-34C>T) c.602-34C>T (n.602-34C>T) c.854-34C>T (n.854-34C>T) c.503-34C>T (n.503-34C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294786G>C | CA2746213720 | PKLR | c.695-34C>G (n.695-34C>G) c.602-34C>G (n.602-34C>G) c.854-34C>G (n.854-34C>G) c.503-34C>G (n.503-34C>G) | |
1 | g.155294786G= | CA1200112307 | PKLR | c.695-34C= (n.695-34C=) c.602-34C= (n.602-34C=) c.854-34C= (n.854-34C=) c.503-34C= (n.503-34C=) | |
1 | g.155294787G>T | CA2648269541 | PKLR | c.695-35C>A (n.695-35C>A) c.602-35C>A (n.602-35C>A) c.854-35C>A (n.854-35C>A) c.503-35C>A (n.503-35C>A) | gnomAD v4 |
1 | g.155294789G>A | CA30903574 | PKLR | c.695-37C>T (n.695-37C>T) c.602-37C>T (n.602-37C>T) c.854-37C>T (n.854-37C>T) c.503-37C>T (n.503-37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294789G= | CA1200112308 | PKLR | c.695-37C= (n.695-37C=) c.602-37C= (n.602-37C=) c.854-37C= (n.854-37C=) c.503-37C= (n.503-37C=) | |
1 | g.155294791G>A | CA30903579 | PKLR | c.695-39C>T (n.695-39C>T) c.602-39C>T (n.602-39C>T) c.854-39C>T (n.854-39C>T) c.503-39C>T (n.503-39C>T) | dbSNP |
1 | g.155294791G= | CA1200112309 | PKLR | c.695-39C= (n.695-39C=) c.602-39C= (n.602-39C=) c.854-39C= (n.854-39C=) c.503-39C= (n.503-39C=) | |
1 | g.155294792G>A | CA1200112311 | PKLR | c.695-40C>T (n.695-40C>T) c.602-40C>T (n.602-40C>T) c.854-40C>T (n.854-40C>T) c.503-40C>T (n.503-40C>T) | dbSNP |
1 | g.155294792G= | CA1200112310 | PKLR | c.695-40C= (n.695-40C=) c.602-40C= (n.602-40C=) c.854-40C= (n.854-40C=) c.503-40C= (n.503-40C=) | |
1 | g.155294793A>G | CA2648269543 | PKLR | c.695-41T>C (n.695-41T>C) c.602-41T>C (n.602-41T>C) c.854-41T>C (n.854-41T>C) c.503-41T>C (n.503-41T>C) | gnomAD v4 |
1 | g.155294794C= | CA1200112313 | PKLR | c.695-42G= (n.695-42G=) c.602-42G= (n.602-42G=) c.854-42G= (n.854-42G=) c.503-42G= (n.503-42G=) | |
1 | g.155294794C>T | CA526668880 | PKLR | c.695-42G>A (n.695-42G>A) c.602-42G>A (n.602-42G>A) c.854-42G>A (n.854-42G>A) c.503-42G>A (n.503-42G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294794_155294795delinsCG | CA1200112312 | PKLR | c.695-43_695-42delinsCG (n.695-43_695-42delinsCG) c.602-43_602-42delinsCG (n.602-43_602-42delinsCG) c.854-43_854-42delinsCG (n.854-43_854-42delinsCG) c.503-43_503-42delinsCG (n.503-43_503-42delinsCG) | |
1 | g.155294795G>A | CA526668881 | PKLR | c.695-43C>T (n.695-43C>T) c.602-43C>T (n.602-43C>T) c.854-43C>T (n.854-43C>T) c.503-43C>T (n.503-43C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294795G>C | CA30903591 | PKLR | c.695-43C>G (n.695-43C>G) c.602-43C>G (n.602-43C>G) c.854-43C>G (n.854-43C>G) c.503-43C>G (n.503-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294795G= | CA1143380516 | PKLR | c.695-43C= (n.695-43C=) c.602-43C= (n.602-43C=) c.854-43C= (n.854-43C=) c.503-43C= (n.503-43C=) | |
1 | g.155294798del | CA1144238 | PKLR | c.695-43del (n.695-43del) c.602-43del (n.602-43del) c.854-43del (n.854-43del) c.503-43del (n.503-43del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294796G>A | CA526668882 | PKLR | c.695-44C>T (n.695-44C>T) c.602-44C>T (n.602-44C>T) c.854-44C>T (n.854-44C>T) c.503-44C>T (n.503-44C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294796G= | CA1200112314 | PKLR | c.695-44C= (n.695-44C=) c.602-44C= (n.602-44C=) c.854-44C= (n.854-44C=) c.503-44C= (n.503-44C=) | |
1 | g.155294797G>A | CA526668883 | PKLR | c.695-45C>T (n.695-45C>T) c.602-45C>T (n.602-45C>T) c.854-45C>T (n.854-45C>T) c.503-45C>T (n.503-45C>T) | dbSNP gnomAD v2 |
1 | g.155294797G= | CA1200112315 | PKLR | c.695-45C= (n.695-45C=) c.602-45C= (n.602-45C=) c.854-45C= (n.854-45C=) c.503-45C= (n.503-45C=) | |
1 | g.155294798G>A | CA2648269560 | PKLR | c.695-46C>T (n.695-46C>T) c.602-46C>T (n.602-46C>T) c.854-46C>T (n.854-46C>T) c.503-46C>T (n.503-46C>T) | gnomAD v4 |
1 | g.155294798G>T | CA2648269561 | PKLR | c.695-46C>A (n.695-46C>A) c.602-46C>A (n.602-46C>A) c.854-46C>A (n.854-46C>A) c.503-46C>A (n.503-46C>A) | gnomAD v4 |
1 | g.155294799C>A | CA2648269562 | PKLR | c.695-47G>T (n.695-47G>T) c.602-47G>T (n.602-47G>T) c.854-47G>T (n.854-47G>T) c.503-47G>T (n.503-47G>T) | gnomAD v4 |
1 | g.155294802A= | CA1200112316 | PKLR | c.695-50T= (n.695-50T=) c.602-50T= (n.602-50T=) c.854-50T= (n.854-50T=) c.503-50T= (n.503-50T=) | |
1 | g.155294802A>C | CA30903599 | PKLR | c.695-50T>G (n.695-50T>G) c.602-50T>G (n.602-50T>G) c.854-50T>G (n.854-50T>G) c.503-50T>G (n.503-50T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294802_155294803delinsAG | CA1200112317 | PKLR | c.695-51_695-50delinsCT (n.695-51_695-50delinsCT) c.602-51_602-50delinsCT (n.602-51_602-50delinsCT) c.854-51_854-50delinsCT (n.854-51_854-50delinsCT) c.503-51_503-50delinsCT (n.503-51_503-50delinsCT) | |
1 | g.155294803del | CA526668884 | PKLR | c.695-51del (n.695-51del) c.602-51del (n.602-51del) c.854-51del (n.854-51del) c.503-51del (n.503-51del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294803G>T | CA2648269563 | PKLR | c.695-51C>A (n.695-51C>A) c.602-51C>A (n.602-51C>A) c.854-51C>A (n.854-51C>A) c.503-51C>A (n.503-51C>A) | gnomAD v4 |
1 | g.155294805T>A | CA30903600 | PKLR | c.695-53A>T (n.695-53A>T) c.602-53A>T (n.602-53A>T) c.854-53A>T (n.854-53A>T) c.503-53A>T (n.503-53A>T) | dbSNP |
1 | g.155294805T= | CA1200112318 | PKLR | c.695-53A= (n.695-53A=) c.602-53A= (n.602-53A=) c.854-53A= (n.854-53A=) c.503-53A= (n.503-53A=) | |
1 | g.155294806G>A | CA2573918425 | PKLR | c.695-54C>T (n.695-54C>T) c.602-54C>T (n.602-54C>T) c.854-54C>T (n.854-54C>T) c.503-54C>T (n.503-54C>T) | gnomAD v4 |
1 | g.155294806G>T | CA646053078 | PKLR | c.695-54C>A (n.695-54C>A) c.602-54C>A (n.602-54C>A) c.854-54C>A (n.854-54C>A) c.503-54C>A (n.503-54C>A) | gnomAD v4 COSMIC COSMIC |
1 | g.155294807C>T | CA2648269564 | PKLR | c.695-55G>A (n.695-55G>A) c.602-55G>A (n.602-55G>A) c.854-55G>A (n.854-55G>A) c.503-55G>A (n.503-55G>A) | gnomAD v4 |
1 | g.155294808A>C | CA2648269565 | PKLR | c.695-56T>G (n.695-56T>G) c.602-56T>G (n.602-56T>G) c.854-56T>G (n.854-56T>G) c.503-56T>G (n.503-56T>G) | gnomAD v4 |
1 | g.155294809G= | CA1200112319 | PKLR | c.695-57C= (n.695-57C=) c.602-57C= (n.602-57C=) c.854-57C= (n.854-57C=) c.503-57C= (n.503-57C=) | |
1 | g.155294809G>T | CA526668885 | PKLR | c.695-57C>A (n.695-57C>A) c.602-57C>A (n.602-57C>A) c.854-57C>A (n.854-57C>A) c.503-57C>A (n.503-57C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294810C>A | CA2648269566 | PKLR | c.695-58G>T (n.695-58G>T) c.602-58G>T (n.602-58G>T) c.854-58G>T (n.854-58G>T) c.503-58G>T (n.503-58G>T) | gnomAD v4 |
1 | g.155294810C>T | CA2648269567 | PKLR | c.695-58G>A (n.695-58G>A) c.602-58G>A (n.602-58G>A) c.854-58G>A (n.854-58G>A) c.503-58G>A (n.503-58G>A) | gnomAD v4 |
1 | g.155294811A= | CA1200112320 | PKLR | c.695-59T= (n.695-59T=) c.602-59T= (n.602-59T=) c.854-59T= (n.854-59T=) c.503-59T= (n.503-59T=) | |
1 | g.155294811A>G | CA1007987099 | PKLR | c.695-59T>C (n.695-59T>C) c.602-59T>C (n.602-59T>C) c.854-59T>C (n.854-59T>C) c.503-59T>C (n.503-59T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294812G>T | CA2547061115 | PKLR | c.695-60C>A (n.695-60C>A) c.602-60C>A (n.602-60C>A) c.854-60C>A (n.854-60C>A) c.503-60C>A (n.503-60C>A) | gnomAD v4 |
1 | g.155294813A= | CA1200112321 | PKLR | c.695-61T= (n.695-61T=) c.602-61T= (n.602-61T=) c.854-61T= (n.854-61T=) c.503-61T= (n.503-61T=) | |
1 | g.155294813A>G | CA1200112322 | PKLR | c.695-61T>C (n.695-61T>C) c.602-61T>C (n.602-61T>C) c.854-61T>C (n.854-61T>C) c.503-61T>C (n.503-61T>C) | dbSNP gnomAD v4 |
1 | g.155294814G>C | CA2648269569 | PKLR | c.695-62C>G (n.695-62C>G) c.602-62C>G (n.602-62C>G) c.854-62C>G (n.854-62C>G) c.503-62C>G (n.503-62C>G) | gnomAD v4 |
1 | g.155294814G>T | CA2648269570 | PKLR | c.695-62C>A (n.695-62C>A) c.602-62C>A (n.602-62C>A) c.854-62C>A (n.854-62C>A) c.503-62C>A (n.503-62C>A) | gnomAD v4 |
1 | g.155294815A>G | CA2573918516 | PKLR | c.695-63T>C (n.695-63T>C) c.602-63T>C (n.602-63T>C) c.854-63T>C (n.854-63T>C) c.503-63T>C (n.503-63T>C) | gnomAD v4 |
1 | g.155294816G>C | CA30903609 | PKLR | c.695-64C>G (n.695-64C>G) c.602-64C>G (n.602-64C>G) c.854-64C>G (n.854-64C>G) c.503-64C>G (n.503-64C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294816G= | CA1145284410 | PKLR | c.695-64C= (n.695-64C=) c.602-64C= (n.602-64C=) c.854-64C= (n.854-64C=) c.503-64C= (n.503-64C=) | |
1 | g.155294817G>A | CA646053090 | PKLR | c.695-65C>T (n.695-65C>T) c.602-65C>T (n.602-65C>T) c.854-65C>T (n.854-65C>T) c.503-65C>T (n.503-65C>T) | COSMIC |
1 | g.155294817G>T | CA2740187410 | PKLR | c.695-65C>A (n.695-65C>A) c.602-65C>A (n.602-65C>A) c.854-65C>A (n.854-65C>A) c.503-65C>A (n.503-65C>A) | |
1 | g.155294818A>G | CA2648269571 | PKLR | c.695-66T>C (n.695-66T>C) c.602-66T>C (n.602-66T>C) c.854-66T>C (n.854-66T>C) c.503-66T>C (n.503-66T>C) | gnomAD v4 |
1 | g.155294818_155294826delinsACACTGGGG | CA1200112323 | PKLR | c.695-74_695-66delinsCCCCAGTGT (n.695-74_695-66delinsCCCCAGTGT) c.602-74_602-66delinsCCCCAGTGT (n.602-74_602-66delinsCCCCAGTGT) c.854-74_854-66delinsCCCCAGTGT (n.854-74_854-66delinsCCCCAGTGT) c.503-74_503-66delinsCCCCAGTGT (n.503-74_503-66delinsCCCCAGTGT) | |
1 | g.155294819C>A | CA2573918521 | PKLR | c.695-67G>T (n.695-67G>T) c.602-67G>T (n.602-67G>T) c.854-67G>T (n.854-67G>T) c.503-67G>T (n.503-67G>T) | gnomAD v4 |
1 | g.155294820_155294827del | CA1200112324 | PKLR | c.695-74_695-67del (n.695-74_695-67del) c.602-74_602-67del (n.602-74_602-67del) c.854-74_854-67del (n.854-74_854-67del) c.503-74_503-67del (n.503-74_503-67del) | dbSNP |
1 | g.155294820A= | CA1200112325 | PKLR | c.695-68T= (n.695-68T=) c.602-68T= (n.602-68T=) c.854-68T= (n.854-68T=) c.503-68T= (n.503-68T=) | |
1 | g.155294820A>C | CA2648269572 | PKLR | c.695-68T>G (n.695-68T>G) c.602-68T>G (n.602-68T>G) c.854-68T>G (n.854-68T>G) c.503-68T>G (n.503-68T>G) | gnomAD v4 |
1 | g.155294820A>G | CA1007987106 | PKLR | c.695-68T>C (n.695-68T>C) c.602-68T>C (n.602-68T>C) c.854-68T>C (n.854-68T>C) c.503-68T>C (n.503-68T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294821C>A | CA2648269573 | PKLR | c.695-69G>T (n.695-69G>T) c.602-69G>T (n.602-69G>T) c.854-69G>T (n.854-69G>T) c.503-69G>T (n.503-69G>T) | gnomAD v4 |
1 | g.155294822T>C | CA2648269574 | PKLR | c.695-70A>G (n.695-70A>G) c.602-70A>G (n.602-70A>G) c.854-70A>G (n.854-70A>G) c.503-70A>G (n.503-70A>G) | gnomAD v4 |
1 | g.155294823G>T | CA2648269575 | PKLR | c.695-71C>A (n.695-71C>A) c.602-71C>A (n.602-71C>A) c.854-71C>A (n.854-71C>A) c.503-71C>A (n.503-71C>A) | gnomAD v4 |
1 | g.155294825G>A | CA2746213722 | PKLR | c.695-73C>T (n.695-73C>T) c.602-73C>T (n.602-73C>T) c.854-73C>T (n.854-73C>T) c.503-73C>T (n.503-73C>T) | |
1 | g.155294825G>T | CA2648269577 | PKLR | c.695-73C>A (n.695-73C>A) c.602-73C>A (n.602-73C>A) c.854-73C>A (n.854-73C>A) c.503-73C>A (n.503-73C>A) | gnomAD v4 |
1 | g.155294826G>A | CA30903617 | PKLR | c.695-74C>T (n.695-74C>T) c.602-74C>T (n.602-74C>T) c.854-74C>T (n.854-74C>T) c.503-74C>T (n.503-74C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294826G>C | CA2648269580 | PKLR | c.695-74C>G (n.695-74C>G) c.602-74C>G (n.602-74C>G) c.854-74C>G (n.854-74C>G) c.503-74C>G (n.503-74C>G) | gnomAD v4 |
1 | g.155294826G= | CA1142490964 | PKLR | c.695-74C= (n.695-74C=) c.602-74C= (n.602-74C=) c.854-74C= (n.854-74C=) c.503-74C= (n.503-74C=) | |
1 | g.155294826G>T | CA2648269578 | PKLR | c.695-74C>A (n.695-74C>A) c.602-74C>A (n.602-74C>A) c.854-74C>A (n.854-74C>A) c.503-74C>A (n.503-74C>A) | gnomAD v4 |
1 | g.155294827C>A | CA2539407266 | PKLR | c.695-75G>T (n.695-75G>T) c.602-75G>T (n.602-75G>T) c.854-75G>T (n.854-75G>T) c.503-75G>T (n.503-75G>T) | |
1 | g.155294828T>A | CA1007987111 | PKLR | c.695-76A>T (n.695-76A>T) c.602-76A>T (n.602-76A>T) c.854-76A>T (n.854-76A>T) c.503-76A>T (n.503-76A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294828T= | CA1200112326 | PKLR | c.695-76A= (n.695-76A=) c.602-76A= (n.602-76A=) c.854-76A= (n.854-76A=) c.503-76A= (n.503-76A=) | |
1 | g.155294829T>G | CA1200112328 | PKLR | c.695-77A>C (n.695-77A>C) c.602-77A>C (n.602-77A>C) c.854-77A>C (n.854-77A>C) c.503-77A>C (n.503-77A>C) | dbSNP |
1 | g.155294829T= | CA1200112327 | PKLR | c.695-77A= (n.695-77A=) c.602-77A= (n.602-77A=) c.854-77A= (n.854-77A=) c.503-77A= (n.503-77A=) | |
1 | g.155294830G>T | CA2648269581 | PKLR | c.695-78C>A (n.695-78C>A) c.602-78C>A (n.602-78C>A) c.854-78C>A (n.854-78C>A) c.503-78C>A (n.503-78C>A) | gnomAD v4 |