Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.21568201G>A | CA338879341 | ALPL | c.746G>A (p.Gly249Asp) c.515G>A (p.Gly172Asp) c.581G>A (p.Gly194Asp) c.590G>A (p.Gly197Asp) | |
1 | g.21568201G>C | CA666594 | ALPL | c.746G>C (p.Gly249Ala) c.515G>C (p.Gly172Ala) c.581G>C (p.Gly194Ala) c.590G>C (p.Gly197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568201G= | CA1141580641 | ALPL | c.746G= (p.Gly249=) c.515G= (p.Gly172=) c.581G= (p.Gly194=) c.590G= (p.Gly197=) | |
1 | g.21568201G>T | CA123350 | ALPL | c.746G>T (p.Gly249Val) c.515G>T (p.Gly172Val) c.581G>T (p.Gly194Val) c.590G>T (p.Gly197Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568202C>A | CA416530157 | ALPL | c.747C>A (p.Gly249=) c.516C>A (p.Gly172=) c.582C>A (p.Gly194=) c.591C>A (p.Gly197=) | |
1 | g.21568202C>G | CA416530155 | ALPL | c.747C>G (p.Gly249=) c.516C>G (p.Gly172=) c.582C>G (p.Gly194=) c.591C>G (p.Gly197=) | |
1 | g.21568202C>T | CA416530153 | ALPL | c.747C>T (p.Gly249=) c.516C>T (p.Gly172=) c.582C>T (p.Gly194=) c.591C>T (p.Gly197=) | ClinVar dbSNP |
1 | g.21568203del | CA2643930960 | ALPL | c.748del (p.Leu250TrpfsTer27) c.517del (p.Leu173TrpfsTer27) c.583del (p.Leu195TrpfsTer27) c.592del (p.Leu198TrpfsTer27) | gnomAD v4 |
1 | g.21568203C>A | CA338879344 | ALPL | c.748C>A (p.Leu250Met) c.517C>A (p.Leu173Met) c.583C>A (p.Leu195Met) c.592C>A (p.Leu198Met) | |
1 | g.21568203C>G | CA338879345 | ALPL | c.748C>G (p.Leu250Val) c.517C>G (p.Leu173Val) c.583C>G (p.Leu195Val) c.592C>G (p.Leu198Val) | |
1 | g.21568203C>T | CA416530159 | ALPL | c.748C>T (p.Leu250=) c.517C>T (p.Leu173=) c.583C>T (p.Leu195=) c.592C>T (p.Leu198=) | ClinVar dbSNP |
1 | g.21568204T>A | CA338879349 | ALPL | c.749T>A (p.Leu250Gln) c.518T>A (p.Leu173Gln) c.584T>A (p.Leu195Gln) c.593T>A (p.Leu198Gln) | |
1 | g.21568204T>C | CA338879351 | ALPL | c.749T>C (p.Leu250Pro) c.518T>C (p.Leu173Pro) c.584T>C (p.Leu195Pro) c.593T>C (p.Leu198Pro) | |
1 | g.21568204T>G | CA338879348 | ALPL | c.749T>G (p.Leu250Arg) c.518T>G (p.Leu173Arg) c.584T>G (p.Leu195Arg) c.593T>G (p.Leu198Arg) | |
1 | g.21568205G>A | CA416530167 | ALPL | c.750G>A (p.Leu250=) c.519G>A (p.Leu173=) c.585G>A (p.Leu195=) c.594G>A (p.Leu198=) | |
1 | g.21568205G>C | CA416530164 | ALPL | c.750G>C (p.Leu250=) c.519G>C (p.Leu173=) c.585G>C (p.Leu195=) c.594G>C (p.Leu198=) | |
1 | g.21568205G>T | CA416530166 | ALPL | c.750G>T (p.Leu250=) c.519G>T (p.Leu173=) c.585G>T (p.Leu195=) c.594G>T (p.Leu198=) | ClinVar dbSNP |
1 | g.21568205_21568206del | CA2580061445 | ALPL | c.750_751del (p.Asp251ProfsTer3) c.519_520del (p.Asp174ProfsTer3) c.585_586del (p.Asp196ProfsTer3) c.594_595del (p.Asp199ProfsTer3) | ClinVar |
1 | g.21568206G>A | CA19063464 | ALPL | c.751G>A (p.Asp251Asn) c.520G>A (p.Asp174Asn) c.586G>A (p.Asp196Asn) c.595G>A (p.Asp199Asn) | dbSNP |
1 | g.21568206G>C | CA338879353 | ALPL | c.751G>C (p.Asp251His) c.520G>C (p.Asp174His) c.586G>C (p.Asp196His) c.595G>C (p.Asp199His) | |
1 | g.21568206G= | CA1158016161 | ALPL | c.751G= (p.Asp251=) c.520G= (p.Asp174=) c.586G= (p.Asp196=) c.595G= (p.Asp199=) | |
1 | g.21568206G>T | CA338879355 | ALPL | c.751G>T (p.Asp251Tyr) c.520G>T (p.Asp174Tyr) c.586G>T (p.Asp196Tyr) c.595G>T (p.Asp199Tyr) | |
1 | g.21568207A>C | CA338879356 | ALPL | c.752A>C (p.Asp251Ala) c.521A>C (p.Asp174Ala) c.587A>C (p.Asp196Ala) c.596A>C (p.Asp199Ala) | |
1 | g.21568207A>G | CA338879358 | ALPL | c.752A>G (p.Asp251Gly) c.521A>G (p.Asp174Gly) c.587A>G (p.Asp196Gly) c.596A>G (p.Asp199Gly) | |
1 | g.21568207A>T | CA338879360 | ALPL | c.752A>T (p.Asp251Val) c.521A>T (p.Asp174Val) c.587A>T (p.Asp196Val) c.596A>T (p.Asp199Val) | |
1 | g.21568208C>A | CA338879362 | ALPL | c.753C>A (p.Asp251Glu) c.522C>A (p.Asp174Glu) c.588C>A (p.Asp196Glu) c.597C>A (p.Asp199Glu) | |
1 | g.21568208C>G | CA338879363 | ALPL | c.753C>G (p.Asp251Glu) c.522C>G (p.Asp174Glu) c.588C>G (p.Asp196Glu) c.597C>G (p.Asp199Glu) | |
1 | g.21568208C>T | CA416530174 | ALPL | c.753C>T (p.Asp251=) c.522C>T (p.Asp174=) c.588C>T (p.Asp196=) c.597C>T (p.Asp199=) | |
1 | g.21568209C>A | CA338879365 | ALPL | c.754C>A (p.Leu252Ile) c.523C>A (p.Leu175Ile) c.589C>A (p.Leu197Ile) c.598C>A (p.Leu200Ile) | |
1 | g.21568209C= | CA1158016162 | ALPL | c.754C= (p.Leu252=) c.523C= (p.Leu175=) c.589C= (p.Leu197=) c.598C= (p.Leu200=) | |
1 | g.21568209C>G | CA338879367 | ALPL | c.754C>G (p.Leu252Val) c.523C>G (p.Leu175Val) c.589C>G (p.Leu197Val) c.598C>G (p.Leu200Val) | |
1 | g.21568209C>T | CA19063468 | ALPL | c.754C>T (p.Leu252Phe) c.523C>T (p.Leu175Phe) c.589C>T (p.Leu197Phe) c.598C>T (p.Leu200Phe) | dbSNP |
1 | g.21568210T>A | CA338879369 | ALPL | c.755T>A (p.Leu252His) c.524T>A (p.Leu175His) c.590T>A (p.Leu197His) c.599T>A (p.Leu200His) | |
1 | g.21568210T>C | CA338879370 | ALPL | c.755T>C (p.Leu252Pro) c.524T>C (p.Leu175Pro) c.590T>C (p.Leu197Pro) c.599T>C (p.Leu200Pro) | |
1 | g.21568210T>G | CA338879371 | ALPL | c.755T>G (p.Leu252Arg) c.524T>G (p.Leu175Arg) c.590T>G (p.Leu197Arg) c.599T>G (p.Leu200Arg) | |
1 | g.21568211C>A | CA416530184 | ALPL | c.756C>A (p.Leu252=) c.525C>A (p.Leu175=) c.591C>A (p.Leu197=) c.600C>A (p.Leu200=) | |
1 | g.21568211C= | CA1158016163 | ALPL | c.756C= (p.Leu252=) c.525C= (p.Leu175=) c.591C= (p.Leu197=) c.600C= (p.Leu200=) | |
1 | g.21568211C>G | CA416530183 | ALPL | c.756C>G (p.Leu252=) c.525C>G (p.Leu175=) c.591C>G (p.Leu197=) c.600C>G (p.Leu200=) | |
1 | g.21568211C>T | CA19063470 | ALPL | c.756C>T (p.Leu252=) c.525C>T (p.Leu175=) c.591C>T (p.Leu197=) c.600C>T (p.Leu200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568211_21568212insCC | CA2739272372 | ALPL | c.756_757insCC (p.Val253ProfsTer25) c.525_526insCC (p.Val176ProfsTer25) c.591_592insCC (p.Val198ProfsTer25) c.600_601insCC (p.Val201ProfsTer25) | ClinVar |
1 | g.21568212G>A | CA666595 | ALPL | c.757G>A (p.Val253Ile) c.526G>A (p.Val176Ile) c.592G>A (p.Val198Ile) c.601G>A (p.Val201Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568212G>C | CA666596 | ALPL | c.757G>C (p.Val253Leu) c.526G>C (p.Val176Leu) c.592G>C (p.Val198Leu) c.601G>C (p.Val201Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568212G= | CA1142415577 | ALPL | c.757G= (p.Val253=) c.526G= (p.Val176=) c.592G= (p.Val198=) c.601G= (p.Val201=) | |
1 | g.21568212G>T | CA338879375 | ALPL | c.757G>T (p.Val253Phe) c.526G>T (p.Val176Phe) c.592G>T (p.Val198Phe) c.601G>T (p.Val201Phe) | |
1 | g.21568213T>A | CA666597 | ALPL | c.758T>A (p.Val253Asp) c.527T>A (p.Val176Asp) c.593T>A (p.Val198Asp) c.602T>A (p.Val201Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568213T>C | CA338879377 | ALPL | c.758T>C (p.Val253Ala) c.527T>C (p.Val176Ala) c.593T>C (p.Val198Ala) c.602T>C (p.Val201Ala) | gnomAD v4 COSMIC |
1 | g.21568213T>G | CA338879378 | ALPL | c.758T>G (p.Val253Gly) c.527T>G (p.Val176Gly) c.593T>G (p.Val198Gly) c.602T>G (p.Val201Gly) | |
1 | g.21568213T= | CA1158016164 | ALPL | c.758T= (p.Val253=) c.527T= (p.Val176=) c.593T= (p.Val198=) c.602T= (p.Val201=) | |
1 | g.21568214T>A | CA416530192 | ALPL | c.759T>A (p.Val253=) c.528T>A (p.Val176=) c.594T>A (p.Val198=) c.603T>A (p.Val201=) | |
1 | g.21568214T>C | CA416530194 | ALPL | c.759T>C (p.Val253=) c.528T>C (p.Val176=) c.594T>C (p.Val198=) c.603T>C (p.Val201=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21568214T>G | CA416530190 | ALPL | c.759T>G (p.Val253=) c.528T>G (p.Val176=) c.594T>G (p.Val198=) c.603T>G (p.Val201=) | |
1 | g.21568214T= | CA1158016165 | ALPL | c.759T= (p.Val253=) c.528T= (p.Val176=) c.594T= (p.Val198=) c.603T= (p.Val201=) | |
1 | g.21568215G>A | CA338879380 | ALPL | c.760G>A (p.Asp254Asn) c.529G>A (p.Asp177Asn) c.595G>A (p.Asp199Asn) c.604G>A (p.Asp202Asn) | |
1 | g.21568215G>C | CA338879382 | ALPL | c.760G>C (p.Asp254His) c.529G>C (p.Asp177His) c.595G>C (p.Asp199His) c.604G>C (p.Asp202His) | gnomAD v4 |
1 | g.21568215G>T | CA338879384 | ALPL | c.760G>T (p.Asp254Tyr) c.529G>T (p.Asp177Tyr) c.595G>T (p.Asp199Tyr) c.604G>T (p.Asp202Tyr) | |
1 | g.21568216A>C | CA338879385 | ALPL | c.761A>C (p.Asp254Ala) c.530A>C (p.Asp177Ala) c.596A>C (p.Asp199Ala) c.605A>C (p.Asp202Ala) | |
1 | g.21568216A>G | CA338879386 | ALPL | c.761A>G (p.Asp254Gly) c.530A>G (p.Asp177Gly) c.596A>G (p.Asp199Gly) c.605A>G (p.Asp202Gly) | |
1 | g.21568216A>T | CA338879387 | ALPL | c.761A>T (p.Asp254Val) c.530A>T (p.Asp177Val) c.596A>T (p.Asp199Val) c.605A>T (p.Asp202Val) | |
1 | g.21568217C>A | CA338879390 | ALPL | c.762C>A (p.Asp254Glu) c.531C>A (p.Asp177Glu) c.597C>A (p.Asp199Glu) c.606C>A (p.Asp202Glu) | |
1 | g.21568217C= | CA1158016166 | ALPL | c.762C= (p.Asp254=) c.531C= (p.Asp177=) c.597C= (p.Asp199=) c.606C= (p.Asp202=) | |
1 | g.21568217C>G | CA338879392 | ALPL | c.762C>G (p.Asp254Glu) c.531C>G (p.Asp177Glu) c.597C>G (p.Asp199Glu) c.606C>G (p.Asp202Glu) | |
1 | g.21568217C>T | CA416530201 | ALPL | c.762C>T (p.Asp254=) c.531C>T (p.Asp177=) c.597C>T (p.Asp199=) c.606C>T (p.Asp202=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568218A>C | CA338879395 | ALPL | c.763A>C (p.Thr255Pro) c.532A>C (p.Thr178Pro) c.598A>C (p.Thr200Pro) c.607A>C (p.Thr203Pro) | |
1 | g.21568218A>G | CA338879396 | ALPL | c.763A>G (p.Thr255Ala) c.532A>G (p.Thr178Ala) c.598A>G (p.Thr200Ala) c.607A>G (p.Thr203Ala) | |
1 | g.21568218A>T | CA338879393 | ALPL | c.763A>T (p.Thr255Ser) c.532A>T (p.Thr178Ser) c.598A>T (p.Thr200Ser) c.607A>T (p.Thr203Ser) | |
1 | g.21568219C>A | CA338879400 | ALPL | c.764C>A (p.Thr255Asn) c.533C>A (p.Thr178Asn) c.599C>A (p.Thr200Asn) c.608C>A (p.Thr203Asn) | gnomAD v4 |
1 | g.21568219C>G | CA338879397 | ALPL | c.764C>G (p.Thr255Ser) c.533C>G (p.Thr178Ser) c.599C>G (p.Thr200Ser) c.608C>G (p.Thr203Ser) | |
1 | g.21568219C>T | CA338879401 | ALPL | c.764C>T (p.Thr255Ile) c.533C>T (p.Thr178Ile) c.599C>T (p.Thr200Ile) c.608C>T (p.Thr203Ile) | gnomAD v4 |
1 | g.21568220C>A | CA416530213 | ALPL | c.765C>A (p.Thr255=) c.534C>A (p.Thr178=) c.600C>A (p.Thr200=) c.609C>A (p.Thr203=) | |
1 | g.21568220C>G | CA416530217 | ALPL | c.765C>G (p.Thr255=) c.534C>G (p.Thr178=) c.600C>G (p.Thr200=) c.609C>G (p.Thr203=) | |
1 | g.21568220C>T | CA416530215 | ALPL | c.765C>T (p.Thr255=) c.534C>T (p.Thr178=) c.600C>T (p.Thr200=) c.609C>T (p.Thr203=) | ClinVar dbSNP gnomAD v4 |
1 | g.21568221T>A | CA338879403 | ALPL | c.766T>A (p.Trp256Arg) c.535T>A (p.Trp179Arg) c.601T>A (p.Trp201Arg) c.610T>A (p.Trp204Arg) | |
1 | g.21568221T>C | CA338879407 | ALPL | c.766T>C (p.Trp256Arg) c.535T>C (p.Trp179Arg) c.601T>C (p.Trp201Arg) c.610T>C (p.Trp204Arg) | |
1 | g.21568221T>G | CA338879405 | ALPL | c.766T>G (p.Trp256Gly) c.535T>G (p.Trp179Gly) c.601T>G (p.Trp201Gly) c.610T>G (p.Trp204Gly) | |
1 | g.21568222G>A | CA338879408 | ALPL | c.767G>A (p.Trp256Ter) c.536G>A (p.Trp179Ter) c.602G>A (p.Trp201Ter) c.611G>A (p.Trp204Ter) | |
1 | g.21568222G>C | CA338879410 | ALPL | c.767G>C (p.Trp256Ser) c.536G>C (p.Trp179Ser) c.602G>C (p.Trp201Ser) c.611G>C (p.Trp204Ser) | |
1 | g.21568222G>T | CA338879412 | ALPL | c.767G>T (p.Trp256Leu) c.536G>T (p.Trp179Leu) c.602G>T (p.Trp201Leu) c.611G>T (p.Trp204Leu) | |
1 | g.21568223G>A | CA666598 | ALPL | c.768G>A (p.Trp256Ter) c.537G>A (p.Trp179Ter) c.603G>A (p.Trp201Ter) c.612G>A (p.Trp204Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568223G>C | CA338879414 | ALPL | c.768G>C (p.Trp256Cys) c.537G>C (p.Trp179Cys) c.603G>C (p.Trp201Cys) c.612G>C (p.Trp204Cys) | |
1 | g.21568223G= | CA1158016167 | ALPL | c.768G= (p.Trp256=) c.537G= (p.Trp179=) c.603G= (p.Trp201=) c.612G= (p.Trp204=) | |
1 | g.21568223G>T | CA338879416 | ALPL | c.768G>T (p.Trp256Cys) c.537G>T (p.Trp179Cys) c.603G>T (p.Trp201Cys) c.612G>T (p.Trp204Cys) | |
1 | g.21568224A>C | CA338879417 | ALPL | c.769A>C (p.Lys257Gln) c.538A>C (p.Lys180Gln) c.604A>C (p.Lys202Gln) c.613A>C (p.Lys205Gln) | |
1 | g.21568224A>G | CA338879418 | ALPL | c.769A>G (p.Lys257Glu) c.538A>G (p.Lys180Glu) c.604A>G (p.Lys202Glu) c.613A>G (p.Lys205Glu) | |
1 | g.21568224A>T | CA338879419 | ALPL | c.769A>T (p.Lys257Ter) c.538A>T (p.Lys180Ter) c.604A>T (p.Lys202Ter) c.613A>T (p.Lys205Ter) | |
1 | g.21568225A>C | CA338879421 | ALPL | c.770A>C (p.Lys257Thr) c.539A>C (p.Lys180Thr) c.605A>C (p.Lys202Thr) c.614A>C (p.Lys205Thr) | |
1 | g.21568225A>G | CA338879423 | ALPL | c.770A>G (p.Lys257Arg) c.539A>G (p.Lys180Arg) c.605A>G (p.Lys202Arg) c.614A>G (p.Lys205Arg) | |
1 | g.21568225A>T | CA338879425 | ALPL | c.770A>T (p.Lys257Met) c.539A>T (p.Lys180Met) c.605A>T (p.Lys202Met) c.614A>T (p.Lys205Met) | |
1 | g.21568226G>A | CA416530236 | ALPL | c.771G>A (p.Lys257=) c.540G>A (p.Lys180=) c.606G>A (p.Lys202=) c.615G>A (p.Lys205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568226G>C | CA338879428 | ALPL | c.771G>C (p.Lys257Asn) c.540G>C (p.Lys180Asn) c.606G>C (p.Lys202Asn) c.615G>C (p.Lys205Asn) | |
1 | g.21568226G= | CA1158016168 | ALPL | c.771G= (p.Lys257=) c.540G= (p.Lys180=) c.606G= (p.Lys202=) c.615G= (p.Lys205=) | |
1 | g.21568226G>T | CA338879426 | ALPL | c.771G>T (p.Lys257Asn) c.540G>T (p.Lys180Asn) c.606G>T (p.Lys202Asn) c.615G>T (p.Lys205Asn) | |
1 | g.21568227A>C | CA338879430 | ALPL | c.772A>C (p.Ser258Arg) c.541A>C (p.Ser181Arg) c.607A>C (p.Ser203Arg) c.616A>C (p.Ser206Arg) | |
1 | g.21568227A>G | CA338879431 | ALPL | c.772A>G (p.Ser258Gly) c.541A>G (p.Ser181Gly) c.607A>G (p.Ser203Gly) c.616A>G (p.Ser206Gly) | gnomAD v4 |
1 | g.21568227A>T | CA338879433 | ALPL | c.772A>T (p.Ser258Cys) c.541A>T (p.Ser181Cys) c.607A>T (p.Ser203Cys) c.616A>T (p.Ser206Cys) | |
1 | g.21568228G>A | CA666599 | ALPL | c.773G>A (p.Ser258Asn) c.542G>A (p.Ser181Asn) c.608G>A (p.Ser203Asn) c.617G>A (p.Ser206Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568228G>C | CA338879436 | ALPL | c.773G>C (p.Ser258Thr) c.542G>C (p.Ser181Thr) c.608G>C (p.Ser203Thr) c.617G>C (p.Ser206Thr) | |
1 | g.21568228G= | CA1158016169 | ALPL | c.773G= (p.Ser258=) c.542G= (p.Ser181=) c.608G= (p.Ser203=) c.617G= (p.Ser206=) | |
1 | g.21568228G>T | CA338879437 | ALPL | c.773G>T (p.Ser258Ile) c.542G>T (p.Ser181Ile) c.608G>T (p.Ser203Ile) c.617G>T (p.Ser206Ile) | |
1 | g.21568229C>A | CA338879439 | ALPL | c.774C>A (p.Ser258Arg) c.543C>A (p.Ser181Arg) c.609C>A (p.Ser203Arg) c.618C>A (p.Ser206Arg) | |
1 | g.21568229C= | CA1158016170 | ALPL | c.774C= (p.Ser258=) c.543C= (p.Ser181=) c.609C= (p.Ser203=) c.618C= (p.Ser206=) | |
1 | g.21568229C>G | CA338879441 | ALPL | c.774C>G (p.Ser258Arg) c.543C>G (p.Ser181Arg) c.609C>G (p.Ser203Arg) c.618C>G (p.Ser206Arg) | |
1 | g.21568229C>T | CA666600 | ALPL | c.774C>T (p.Ser258=) c.543C>T (p.Ser181=) c.609C>T (p.Ser203=) c.618C>T (p.Ser206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568230T>A | CA338879443 | ALPL | c.775T>A (p.Phe259Ile) c.544T>A (p.Phe182Ile) c.610T>A (p.Phe204Ile) c.619T>A (p.Phe207Ile) | |
1 | g.21568230T>C | CA338879445 | ALPL | c.775T>C (p.Phe259Leu) c.544T>C (p.Phe182Leu) c.610T>C (p.Phe204Leu) c.619T>C (p.Phe207Leu) | dbSNP gnomAD v4 |
1 | g.21568230T>G | CA338879447 | ALPL | c.775T>G (p.Phe259Val) c.544T>G (p.Phe182Val) c.610T>G (p.Phe204Val) c.619T>G (p.Phe207Val) | |
1 | g.21568230T= | CA1158016171 | ALPL | c.775T= (p.Phe259=) c.544T= (p.Phe182=) c.610T= (p.Phe204=) c.619T= (p.Phe207=) | |
1 | g.21568231T>A | CA338879452 | ALPL | c.776T>A (p.Phe259Tyr) c.545T>A (p.Phe182Tyr) c.611T>A (p.Phe204Tyr) c.620T>A (p.Phe207Tyr) | |
1 | g.21568231T>C | CA338879451 | ALPL | c.776T>C (p.Phe259Ser) c.545T>C (p.Phe182Ser) c.611T>C (p.Phe204Ser) c.620T>C (p.Phe207Ser) | |
1 | g.21568231T>G | CA338879449 | ALPL | c.776T>G (p.Phe259Cys) c.545T>G (p.Phe182Cys) c.611T>G (p.Phe204Cys) c.620T>G (p.Phe207Cys) | |
1 | g.21568232C>A | CA338879454 | ALPL | c.777C>A (p.Phe259Leu) c.546C>A (p.Phe182Leu) c.612C>A (p.Phe204Leu) c.621C>A (p.Phe207Leu) | |
1 | g.21568232C= | CA1158016172 | ALPL | c.777C= (p.Phe259=) c.546C= (p.Phe182=) c.612C= (p.Phe204=) c.621C= (p.Phe207=) | |
1 | g.21568232C>G | CA338879455 | ALPL | c.777C>G (p.Phe259Leu) c.546C>G (p.Phe182Leu) c.612C>G (p.Phe204Leu) c.621C>G (p.Phe207Leu) | |
1 | g.21568232C>T | CA416530258 | ALPL | c.777C>T (p.Phe259=) c.546C>T (p.Phe182=) c.612C>T (p.Phe204=) c.621C>T (p.Phe207=) | ClinVar dbSNP |
1 | g.21568233A>C | CA338879457 | ALPL | c.778A>C (p.Lys260Gln) c.547A>C (p.Lys183Gln) c.613A>C (p.Lys205Gln) c.622A>C (p.Lys208Gln) | |
1 | g.21568233A>G | CA338879459 | ALPL | c.778A>G (p.Lys260Glu) c.547A>G (p.Lys183Glu) c.613A>G (p.Lys205Glu) c.622A>G (p.Lys208Glu) | |
1 | g.21568233A>T | CA338879461 | ALPL | c.778A>T (p.Lys260Ter) c.547A>T (p.Lys183Ter) c.613A>T (p.Lys205Ter) c.622A>T (p.Lys208Ter) | |
1 | g.21568234A>C | CA338879462 | ALPL | c.779A>C (p.Lys260Thr) c.548A>C (p.Lys183Thr) c.614A>C (p.Lys205Thr) c.623A>C (p.Lys208Thr) | |
1 | g.21568234A>G | CA338879463 | ALPL | c.779A>G (p.Lys260Arg) c.548A>G (p.Lys183Arg) c.614A>G (p.Lys205Arg) c.623A>G (p.Lys208Arg) | |
1 | g.21568234A>T | CA338879465 | ALPL | c.779A>T (p.Lys260Ile) c.548A>T (p.Lys183Ile) c.614A>T (p.Lys205Ile) c.623A>T (p.Lys208Ile) | |
1 | g.21568235A>C | CA338879467 | ALPL | c.780A>C (p.Lys260Asn) c.549A>C (p.Lys183Asn) c.615A>C (p.Lys205Asn) c.624A>C (p.Lys208Asn) | |
1 | g.21568235A>G | CA416530267 | ALPL | c.780A>G (p.Lys260=) c.549A>G (p.Lys183=) c.615A>G (p.Lys205=) c.624A>G (p.Lys208=) | |
1 | g.21568235A>T | CA338879469 | ALPL | c.780A>T (p.Lys260Asn) c.549A>T (p.Lys183Asn) c.615A>T (p.Lys205Asn) c.624A>T (p.Lys208Asn) | |
1 | g.21568236C>A | CA666601 | ALPL | c.781C>A (p.Pro261Thr) c.550C>A (p.Pro184Thr) c.616C>A (p.Pro206Thr) c.625C>A (p.Pro209Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568236C= | CA1158016173 | ALPL | c.781C= (p.Pro261=) c.550C= (p.Pro184=) c.616C= (p.Pro206=) c.625C= (p.Pro209=) | |
1 | g.21568236C>G | CA338879471 | ALPL | c.781C>G (p.Pro261Ala) c.550C>G (p.Pro184Ala) c.616C>G (p.Pro206Ala) c.625C>G (p.Pro209Ala) | |
1 | g.21568236C>T | CA338879473 | ALPL | c.781C>T (p.Pro261Ser) c.550C>T (p.Pro184Ser) c.616C>T (p.Pro206Ser) c.625C>T (p.Pro209Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568237C>A | CA666602 | ALPL | c.782C>A (p.Pro261Gln) c.551C>A (p.Pro184Gln) c.617C>A (p.Pro206Gln) c.626C>A (p.Pro209Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568237C= | CA1158016174 | ALPL | c.782C= (p.Pro261=) c.551C= (p.Pro184=) c.617C= (p.Pro206=) c.626C= (p.Pro209=) | |
1 | g.21568237C>G | CA338879475 | ALPL | c.782C>G (p.Pro261Arg) c.551C>G (p.Pro184Arg) c.617C>G (p.Pro206Arg) c.626C>G (p.Pro209Arg) | |
1 | g.21568237C>T | CA666603 | ALPL | c.782C>T (p.Pro261Leu) c.551C>T (p.Pro184Leu) c.617C>T (p.Pro206Leu) c.626C>T (p.Pro209Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568238G>A | CA666604 | ALPL | c.783G>A (p.Pro261=) c.552G>A (p.Pro184=) c.618G>A (p.Pro206=) c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568238G>C | CA416530278 | ALPL | c.783G>C (p.Pro261=) c.552G>C (p.Pro184=) c.618G>C (p.Pro206=) c.627G>C (p.Pro209=) | |
1 | g.21568238G= | CA1145014200 | ALPL | c.783G= (p.Pro261=) c.552G= (p.Pro184=) c.618G= (p.Pro206=) c.627G= (p.Pro209=) | |
1 | g.21568238G>T | CA416530275 | ALPL | c.783G>T (p.Pro261=) c.552G>T (p.Pro184=) c.618G>T (p.Pro206=) c.627G>T (p.Pro209=) | gnomAD v4 |
1 | g.21568239A>C | CA416530282 | ALPL | c.784A>C (p.Arg262=) c.553A>C (p.Arg185=) c.619A>C (p.Arg207=) c.628A>C (p.Arg210=) | |
1 | g.21568239A>G | CA338879479 | ALPL | c.784A>G (p.Arg262Gly) c.553A>G (p.Arg185Gly) c.619A>G (p.Arg207Gly) c.628A>G (p.Arg210Gly) | |
1 | g.21568239A>T | CA338879480 | ALPL | c.784A>T (p.Arg262Ter) c.553A>T (p.Arg185Ter) c.619A>T (p.Arg207Ter) c.628A>T (p.Arg210Ter) | ClinVar |
1 | g.21568240G>A | CA338879483 | ALPL | c.785G>A (p.Arg262Lys) c.554G>A (p.Arg185Lys) c.620G>A (p.Arg207Lys) c.629G>A (p.Arg210Lys) | gnomAD v4 |
1 | g.21568240G>C | CA338879484 | ALPL | c.785G>C (p.Arg262Thr) c.554G>C (p.Arg185Thr) c.620G>C (p.Arg207Thr) c.629G>C (p.Arg210Thr) | |
1 | g.21568240G>T | CA338879485 | ALPL | c.785G>T (p.Arg262Ile) c.554G>T (p.Arg185Ile) c.620G>T (p.Arg207Ile) c.629G>T (p.Arg210Ile) | |
1 | g.21568241A>C | CA338879487 | ALPL | c.786A>C (p.Arg262Ser) c.555A>C (p.Arg185Ser) c.621A>C (p.Arg207Ser) c.630A>C (p.Arg210Ser) | |
1 | g.21568241A>G | CA416530289 | ALPL | c.786A>G (p.Arg262=) c.555A>G (p.Arg185=) c.621A>G (p.Arg207=) c.630A>G (p.Arg210=) | gnomAD v4 |
1 | g.21568241A>T | CA338879489 | ALPL | c.786A>T (p.Arg262Ser) c.555A>T (p.Arg185Ser) c.621A>T (p.Arg207Ser) c.630A>T (p.Arg210Ser) | |
1 | g.21568242T>A | CA338879491 | ALPL | c.787T>A (p.Tyr263Asn) c.556T>A (p.Tyr186Asn) c.622T>A (p.Tyr208Asn) c.631T>A (p.Tyr211Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21568242T>C | CA203411 | ALPL | c.787T>C (p.Tyr263His) c.556T>C (p.Tyr186His) c.622T>C (p.Tyr208His) c.631T>C (p.Tyr211His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568242T>G | CA338879492 | ALPL | c.787T>G (p.Tyr263Asp) c.556T>G (p.Tyr186Asp) c.622T>G (p.Tyr208Asp) c.631T>G (p.Tyr211Asp) | dbSNP |
1 | g.21568242T= | CA1139989380 | ALPL | c.787T= (p.Tyr263=) c.556T= (p.Tyr186=) c.622T= (p.Tyr208=) c.631T= (p.Tyr211=) | |
1 | g.21568243A= | CA1158016175 | ALPL | c.788A= (p.Tyr263=) c.557A= (p.Tyr186=) c.623A= (p.Tyr208=) c.632A= (p.Tyr211=) | |
1 | g.21568243A>C | CA338879497 | ALPL | c.788A>C (p.Tyr263Ser) c.557A>C (p.Tyr186Ser) c.623A>C (p.Tyr208Ser) c.632A>C (p.Tyr211Ser) | |
1 | g.21568243A>G | CA338879496 | ALPL | c.788A>G (p.Tyr263Cys) c.557A>G (p.Tyr186Cys) c.623A>G (p.Tyr208Cys) c.632A>G (p.Tyr211Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.21568243A>T | CA338879494 | ALPL | c.788A>T (p.Tyr263Phe) c.557A>T (p.Tyr186Phe) c.623A>T (p.Tyr208Phe) c.632A>T (p.Tyr211Phe) | |
1 | g.21568244C>A | CA338879498 | ALPL | c.789C>A (p.Tyr263Ter) c.558C>A (p.Tyr186Ter) c.624C>A (p.Tyr208Ter) c.633C>A (p.Tyr211Ter) | |
1 | g.21568244C>G | CA338879499 | ALPL | c.789C>G (p.Tyr263Ter) c.558C>G (p.Tyr186Ter) c.624C>G (p.Tyr208Ter) c.633C>G (p.Tyr211Ter) | |
1 | g.21568244C>T | CA416530300 | ALPL | c.789C>T (p.Tyr263=) c.558C>T (p.Tyr186=) c.624C>T (p.Tyr208=) c.633C>T (p.Tyr211=) | ClinVar |
1 | g.21568245A= | CA1158016176 | ALPL | c.790A= (p.Lys264=) c.559A= (p.Lys187=) c.625A= (p.Lys209=) c.634A= (p.Lys212=) | |
1 | g.21568245A>C | CA338879501 | ALPL | c.790A>C (p.Lys264Gln) c.559A>C (p.Lys187Gln) c.625A>C (p.Lys209Gln) c.634A>C (p.Lys212Gln) | |
1 | g.21568245A>G | CA19063513 | ALPL | c.790A>G (p.Lys264Glu) c.559A>G (p.Lys187Glu) c.625A>G (p.Lys209Glu) c.634A>G (p.Lys212Glu) | dbSNP |
1 | g.21568245A>T | CA338879503 | ALPL | c.790A>T (p.Lys264Ter) c.559A>T (p.Lys187Ter) c.625A>T (p.Lys209Ter) c.634A>T (p.Lys212Ter) | |
1 | g.21568246A= | CA1158016177 | ALPL | c.791A= (p.Lys264=) c.560A= (p.Lys187=) c.626A= (p.Lys209=) c.635A= (p.Lys212=) | |
1 | g.21568246A>C | CA338879505 | ALPL | c.791A>C (p.Lys264Thr) c.560A>C (p.Lys187Thr) c.626A>C (p.Lys209Thr) c.635A>C (p.Lys212Thr) | |
1 | g.21568246A>G | CA273908 | ALPL | c.791A>G (p.Lys264Arg) c.560A>G (p.Lys187Arg) c.626A>G (p.Lys209Arg) c.635A>G (p.Lys212Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568246A>T | CA338879507 | ALPL | c.791A>T (p.Lys264Met) c.560A>T (p.Lys187Met) c.626A>T (p.Lys209Met) c.635A>T (p.Lys212Met) | |
1 | g.21568247G>A | CA416530308 | ALPL | c.792G>A (p.Lys264=) c.561G>A (p.Lys187=) c.627G>A (p.Lys209=) c.636G>A (p.Lys212=) | gnomAD v4 |
1 | g.21568247G>C | CA338879509 | ALPL | c.792G>C (p.Lys264Asn) c.561G>C (p.Lys187Asn) c.627G>C (p.Lys209Asn) c.636G>C (p.Lys212Asn) | |
1 | g.21568247G>T | CA338879511 | ALPL | c.792G>T (p.Lys264Asn) c.561G>T (p.Lys187Asn) c.627G>T (p.Lys209Asn) c.636G>T (p.Lys212Asn) | ClinVar |
1 | g.21568248G>A | CA338879513 | ALPL | c.792+1G>A (n.792+1G>A) c.561+1G>A (n.561+1G>A) c.627+1G>A (n.627+1G>A) c.636+1G>A (n.636+1G>A) | ClinVar COSMIC |
1 | g.21568248G>C | CA338879515 | ALPL | c.792+1G>C (n.792+1G>C) c.561+1G>C (n.561+1G>C) c.627+1G>C (n.627+1G>C) c.636+1G>C (n.636+1G>C) | ClinVar |
1 | g.21568248G>T | CA338879517 | ALPL | c.792+1G>T (n.792+1G>T) c.561+1G>T (n.561+1G>T) c.627+1G>T (n.627+1G>T) c.636+1G>T (n.636+1G>T) | |
1 | g.21568249T>A | CA338879519 | ALPL | c.792+2T>A (n.792+2T>A) c.561+2T>A (n.561+2T>A) c.627+2T>A (n.627+2T>A) c.636+2T>A (n.636+2T>A) | |
1 | g.21568249T>C | CA338879520 | ALPL | c.792+2T>C (n.792+2T>C) c.561+2T>C (n.561+2T>C) c.627+2T>C (n.627+2T>C) c.636+2T>C (n.636+2T>C) | |
1 | g.21568249T>G | CA338879522 | ALPL | c.792+2T>G (n.792+2T>G) c.561+2T>G (n.561+2T>G) c.627+2T>G (n.627+2T>G) c.636+2T>G (n.636+2T>G) | |
1 | g.21568250A>G | CA2643930963 | ALPL | c.792+3A>G (n.792+3A>G) c.561+3A>G (n.561+3A>G) c.627+3A>G (n.627+3A>G) c.636+3A>G (n.636+3A>G) | gnomAD v4 |
1 | g.21568251G= | CA1158016178 | ALPL | c.792+4G= (n.792+4G=) c.561+4G= (n.561+4G=) c.627+4G= (n.627+4G=) c.636+4G= (n.636+4G=) | |
1 | g.21568251G>T | CA1158016179 | ALPL | c.792+4G>T (n.792+4G>T) c.561+4G>T (n.561+4G>T) c.627+4G>T (n.627+4G>T) c.636+4G>T (n.636+4G>T) | ClinVar dbSNP gnomAD v4 |
1 | g.21568252C>T | CA2643930964 | ALPL | c.792+5C>T (n.792+5C>T) c.561+5C>T (n.561+5C>T) c.627+5C>T (n.627+5C>T) c.636+5C>T (n.636+5C>T) | gnomAD v4 |
1 | g.21568254del | CA2742753758 | ALPL | c.792+7del (n.792+7del) c.561+7del (n.561+7del) c.627+7del (n.627+7del) c.636+7del (n.636+7del) | |
1 | g.21568254T>C | CA2643930965 | ALPL | c.792+7T>C (n.792+7T>C) c.561+7T>C (n.561+7T>C) c.627+7T>C (n.627+7T>C) c.636+7T>C (n.636+7T>C) | ClinVar gnomAD v4 |
1 | g.21568255G>A | CA19063522 | ALPL | c.792+8G>A (n.792+8G>A) c.561+8G>A (n.561+8G>A) c.627+8G>A (n.627+8G>A) c.636+8G>A (n.636+8G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.21568255G>C | CA2573130500 | ALPL | c.792+8G>C (n.792+8G>C) c.561+8G>C (n.561+8G>C) c.627+8G>C (n.627+8G>C) c.636+8G>C (n.636+8G>C) | ClinVar dbSNP |
1 | g.21568255G= | CA1158016180 | ALPL | c.792+8G= (n.792+8G=) c.561+8G= (n.561+8G=) c.627+8G= (n.627+8G=) c.636+8G= (n.636+8G=) | |
1 | g.21568256T>C | CA2740114634 | ALPL | c.792+9T>C (n.792+9T>C) c.561+9T>C (n.561+9T>C) c.627+9T>C (n.627+9T>C) c.636+9T>C (n.636+9T>C) | |
1 | g.21568257del | CA2499214453 | ALPL | c.792+10del (n.792+10del) c.561+10del (n.561+10del) c.627+10del (n.627+10del) c.636+10del (n.636+10del) | ClinVar dbSNP |
1 | g.21568260G>A | CA521577209 | ALPL | c.792+13G>A (n.792+13G>A) c.561+13G>A (n.561+13G>A) c.627+13G>A (n.627+13G>A) c.636+13G>A (n.636+13G>A) | dbSNP gnomAD v2 |
1 | g.21568260G>C | CA666605 | ALPL | c.792+13G>C (n.792+13G>C) c.561+13G>C (n.561+13G>C) c.627+13G>C (n.627+13G>C) c.636+13G>C (n.636+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568260G= | CA1143966576 | ALPL | c.792+13G= (n.792+13G=) c.561+13G= (n.561+13G=) c.627+13G= (n.627+13G=) c.636+13G= (n.636+13G=) | |
1 | g.21568262G= | CA1158016181 | ALPL | c.792+15G= (n.792+15G=) c.561+15G= (n.561+15G=) c.627+15G= (n.627+15G=) c.636+15G= (n.636+15G=) | |
1 | g.21568262G>T | CA1158016182 | ALPL | c.792+15G>T (n.792+15G>T) c.561+15G>T (n.561+15G>T) c.627+15G>T (n.627+15G>T) c.636+15G>T (n.636+15G>T) | dbSNP |
1 | g.21568263G= | CA1158016183 | ALPL | c.792+16G= (n.792+16G=) c.561+16G= (n.561+16G=) c.627+16G= (n.627+16G=) c.636+16G= (n.636+16G=) | |
1 | g.21568263G>T | CA666606 | ALPL | c.792+16G>T (n.792+16G>T) c.561+16G>T (n.561+16G>T) c.627+16G>T (n.627+16G>T) c.636+16G>T (n.636+16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568265C>A | CA666607 | ALPL | c.792+18C>A (n.792+18C>A) c.561+18C>A (n.561+18C>A) c.627+18C>A (n.627+18C>A) c.636+18C>A (n.636+18C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568265C= | CA1158016184 | ALPL | c.792+18C= (n.792+18C=) c.561+18C= (n.561+18C=) c.627+18C= (n.627+18C=) c.636+18C= (n.636+18C=) | |
1 | g.21568265C>G | CA521577210 | ALPL | c.792+18C>G (n.792+18C>G) c.561+18C>G (n.561+18C>G) c.627+18C>G (n.627+18C>G) c.636+18C>G (n.636+18C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21568266A= | CA1148886478 | ALPL | c.792+19A= (n.792+19A=) c.561+19A= (n.561+19A=) c.627+19A= (n.627+19A=) c.636+19A= (n.636+19A=) | |
1 | g.21568266A>C | CA2742753762 | ALPL | c.792+19A>C (n.792+19A>C) c.561+19A>C (n.561+19A>C) c.627+19A>C (n.627+19A>C) c.636+19A>C (n.636+19A>C) | |
1 | g.21568266A>G | CA666608 | ALPL | c.792+19A>G (n.792+19A>G) c.561+19A>G (n.561+19A>G) c.627+19A>G (n.627+19A>G) c.636+19A>G (n.636+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568266A>T | CA1158016185 | ALPL | c.792+19A>T (n.792+19A>T) c.561+19A>T (n.561+19A>T) c.627+19A>T (n.627+19A>T) c.636+19A>T (n.636+19A>T) | dbSNP gnomAD v4 |
1 | g.21568267T>C | CA2573130501 | ALPL | c.792+20T>C (n.792+20T>C) c.561+20T>C (n.561+20T>C) c.627+20T>C (n.627+20T>C) c.636+20T>C (n.636+20T>C) | ClinVar dbSNP |
1 | g.21568268G>A | CA521577211 | ALPL | c.792+21G>A (n.792+21G>A) c.561+21G>A (n.561+21G>A) c.627+21G>A (n.627+21G>A) c.636+21G>A (n.636+21G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21568268G= | CA1158016186 | ALPL | c.792+21G= (n.792+21G=) c.561+21G= (n.561+21G=) c.627+21G= (n.627+21G=) c.636+21G= (n.636+21G=) | |
1 | g.21568269T>A | CA999407163 | ALPL | c.792+22T>A (n.792+22T>A) c.561+22T>A (n.561+22T>A) c.627+22T>A (n.627+22T>A) c.636+22T>A (n.636+22T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568269T= | CA1158016187 | ALPL | c.792+22T= (n.792+22T=) c.561+22T= (n.561+22T=) c.627+22T= (n.627+22T=) c.636+22T= (n.636+22T=) | |
1 | g.21568270G>A | CA2643930966 | ALPL | c.792+23G>A (n.792+23G>A) c.561+23G>A (n.561+23G>A) c.627+23G>A (n.627+23G>A) c.636+23G>A (n.636+23G>A) | gnomAD v4 |
1 | g.21568271G>A | CA1158016189 | ALPL | c.792+24G>A (n.792+24G>A) c.561+24G>A (n.561+24G>A) c.627+24G>A (n.627+24G>A) c.636+24G>A (n.636+24G>A) | dbSNP gnomAD v4 |
1 | g.21568271G= | CA1158016188 | ALPL | c.792+24G= (n.792+24G=) c.561+24G= (n.561+24G=) c.627+24G= (n.627+24G=) c.636+24G= (n.636+24G=) | |
1 | g.21568272C= | CA1158016190 | ALPL | c.792+25C= (n.792+25C=) c.561+25C= (n.561+25C=) c.627+25C= (n.627+25C=) c.636+25C= (n.636+25C=) | |
1 | g.21568272C>T | CA666609 | ALPL | c.792+25C>T (n.792+25C>T) c.561+25C>T (n.561+25C>T) c.627+25C>T (n.627+25C>T) c.636+25C>T (n.636+25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568273T>C | CA19063554 | ALPL | c.792+26T>C (n.792+26T>C) c.561+26T>C (n.561+26T>C) c.627+26T>C (n.627+26T>C) c.636+26T>C (n.636+26T>C) | dbSNP |
1 | g.21568273T= | CA1158016191 | ALPL | c.792+26T= (n.792+26T=) c.561+26T= (n.561+26T=) c.627+26T= (n.627+26T=) c.636+26T= (n.636+26T=) | |
1 | g.21568274G>A | CA999407173 | ALPL | c.792+27G>A (n.792+27G>A) c.561+27G>A (n.561+27G>A) c.627+27G>A (n.627+27G>A) c.636+27G>A (n.636+27G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568274G>C | CA999407175 | ALPL | c.792+27G>C (n.792+27G>C) c.561+27G>C (n.561+27G>C) c.627+27G>C (n.627+27G>C) c.636+27G>C (n.636+27G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568274G= | CA1158016192 | ALPL | c.792+27G= (n.792+27G=) c.561+27G= (n.561+27G=) c.627+27G= (n.627+27G=) c.636+27G= (n.636+27G=) | |
1 | g.21568276A>G | CA2643930967 | ALPL | c.792+29A>G (n.792+29A>G) c.561+29A>G (n.561+29A>G) c.627+29A>G (n.627+29A>G) c.636+29A>G (n.636+29A>G) | gnomAD v4 |
1 | g.21568277G>A | CA521577212 | ALPL | c.792+30G>A (n.792+30G>A) c.561+30G>A (n.561+30G>A) c.627+30G>A (n.627+30G>A) c.636+30G>A (n.636+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.21568277G= | CA1158016193 | ALPL | c.792+30G= (n.792+30G=) c.561+30G= (n.561+30G=) c.627+30G= (n.627+30G=) c.636+30G= (n.636+30G=) | |
1 | g.21568278A= | CA1158016194 | ALPL | c.792+31A= (n.792+31A=) c.561+31A= (n.561+31A=) c.627+31A= (n.627+31A=) c.636+31A= (n.636+31A=) | |
1 | g.21568278A>T | CA1158016195 | ALPL | c.792+31A>T (n.792+31A>T) c.561+31A>T (n.561+31A>T) c.627+31A>T (n.627+31A>T) c.636+31A>T (n.636+31A>T) | dbSNP gnomAD v4 |
1 | g.21568279G>A | CA2740114636 | ALPL | c.792+32G>A (n.792+32G>A) c.561+32G>A (n.561+32G>A) c.627+32G>A (n.627+32G>A) c.636+32G>A (n.636+32G>A) | |
1 | g.21568280G>A | CA666610 | ALPL | c.792+33G>A (n.792+33G>A) c.561+33G>A (n.561+33G>A) c.627+33G>A (n.627+33G>A) c.636+33G>A (n.636+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.21568280G= | CA1158016196 | ALPL | c.792+33G= (n.792+33G=) c.561+33G= (n.561+33G=) c.627+33G= (n.627+33G=) c.636+33G= (n.636+33G=) | |
1 | g.21568281T>C | CA521577213 | ALPL | c.792+34T>C (n.792+34T>C) c.561+34T>C (n.561+34T>C) c.627+34T>C (n.627+34T>C) c.636+34T>C (n.636+34T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568281T>G | CA1158016198 | ALPL | c.792+34T>G (n.792+34T>G) c.561+34T>G (n.561+34T>G) c.627+34T>G (n.627+34T>G) c.636+34T>G (n.636+34T>G) | dbSNP gnomAD v4 |
1 | g.21568281T= | CA1158016197 | ALPL | c.792+34T= (n.792+34T=) c.561+34T= (n.561+34T=) c.627+34T= (n.627+34T=) c.636+34T= (n.636+34T=) | |
1 | g.21568282G>A | CA1158016200 | ALPL | c.792+35G>A (n.792+35G>A) c.561+35G>A (n.561+35G>A) c.627+35G>A (n.627+35G>A) c.636+35G>A (n.636+35G>A) | dbSNP |
1 | g.21568282G= | CA1158016199 | ALPL | c.792+35G= (n.792+35G=) c.561+35G= (n.561+35G=) c.627+35G= (n.627+35G=) c.636+35G= (n.636+35G=) | |
1 | g.21568282G>T | CA2695293749 | ALPL | c.792+35G>T (n.792+35G>T) c.561+35G>T (n.561+35G>T) c.627+35G>T (n.627+35G>T) c.636+35G>T (n.636+35G>T) | dbSNP |
1 | g.21568283G= | CA1158016202 | ALPL | c.792+36G= (n.792+36G=) c.561+36G= (n.561+36G=) c.627+36G= (n.627+36G=) c.636+36G= (n.636+36G=) | |
1 | g.21568283G>T | CA19063565 | ALPL | c.792+36G>T (n.792+36G>T) c.561+36G>T (n.561+36G>T) c.627+36G>T (n.627+36G>T) c.636+36G>T (n.636+36G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568283_21568284delinsGC | CA1158016201 | ALPL | c.792+36_792+37delinsGC (n.792+36_792+37delinsGC) c.561+36_561+37delinsGC (n.561+36_561+37delinsGC) c.627+36_627+37delinsGC (n.627+36_627+37delinsGC) c.636+36_636+37delinsGC (n.636+36_636+37delinsGC) | |
1 | g.21568284C= | CA1158016203 | ALPL | c.792+37C= (n.792+37C=) c.561+37C= (n.561+37C=) c.627+37C= (n.627+37C=) c.636+37C= (n.636+37C=) | |
1 | g.21568284C>T | CA1158016204 | ALPL | c.792+37C>T (n.792+37C>T) c.561+37C>T (n.561+37C>T) c.627+37C>T (n.627+37C>T) c.636+37C>T (n.636+37C>T) | dbSNP gnomAD v4 |
1 | g.21568285del | CA666611 | ALPL | c.792+38del (n.792+38del) c.561+38del (n.561+38del) c.627+38del (n.627+38del) c.636+38del (n.636+38del) | dbSNP ExAC gnomAD v2 |
1 | g.21568287G>A | CA2643930968 | ALPL | c.792+40G>A (n.792+40G>A) c.561+40G>A (n.561+40G>A) c.627+40G>A (n.627+40G>A) c.636+40G>A (n.636+40G>A) | gnomAD v4 |
1 | g.21568288T>C | CA2574253146 | ALPL | c.792+41T>C (n.792+41T>C) c.561+41T>C (n.561+41T>C) c.627+41T>C (n.627+41T>C) c.636+41T>C (n.636+41T>C) | |
1 | g.21568290A= | CA1158016206 | ALPL | c.792+43A= (n.792+43A=) c.561+43A= (n.561+43A=) c.627+43A= (n.627+43A=) c.636+43A= (n.636+43A=) | |
1 | g.21568290A>G | CA1158016205 | ALPL | c.792+43A>G (n.792+43A>G) c.561+43A>G (n.561+43A>G) c.627+43A>G (n.627+43A>G) c.636+43A>G (n.636+43A>G) | dbSNP |
1 | g.21568290A>T | CA521577215 | ALPL | c.792+43A>T (n.792+43A>T) c.561+43A>T (n.561+43A>T) c.627+43A>T (n.627+43A>T) c.636+43A>T (n.636+43A>T) | dbSNP gnomAD v2 |
1 | g.21568292G>A | CA2581649585 | ALPL | c.792+45G>A (n.792+45G>A) c.561+45G>A (n.561+45G>A) c.627+45G>A (n.627+45G>A) c.636+45G>A (n.636+45G>A) | |
1 | g.21568292G>C | CA1158016207 | ALPL | c.792+45G>C (n.792+45G>C) c.561+45G>C (n.561+45G>C) c.627+45G>C (n.627+45G>C) c.636+45G>C (n.636+45G>C) | dbSNP gnomAD v4 |
1 | g.21568292G= | CA1139990394 | ALPL | c.792+45G= (n.792+45G=) c.561+45G= (n.561+45G=) c.627+45G= (n.627+45G=) c.636+45G= (n.636+45G=) | |
1 | g.21568292G>T | CA666612 | ALPL | c.792+45G>T (n.792+45G>T) c.561+45G>T (n.561+45G>T) c.627+45G>T (n.627+45G>T) c.636+45G>T (n.636+45G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.21568294_21568295insTGTGTTTGGGG | CA2742753766 | ALPL | c.792+47_792+48insTGTGTTTGGGG (n.792+47_792+48insTGTGTTTGGGG) c.561+47_561+48insTGTGTTTGGGG (n.561+47_561+48insTGTGTTTGGGG) c.627+47_627+48insTGTGTTTGGGG (n.627+47_627+48insTGTGTTTGGGG) c.636+47_636+48insTGTGTTTGGGG (n.636+47_636+48insTGTGTTTGGGG) | |
1 | g.21568293G>T | CA2643930969 | ALPL | c.792+46G>T (n.792+46G>T) c.561+46G>T (n.561+46G>T) c.627+46G>T (n.627+46G>T) c.636+46G>T (n.636+46G>T) | gnomAD v4 |
1 | g.21568294_21568295insT | CA2742753769 | ALPL | c.792+47_792+48insT (n.792+47_792+48insT) c.561+47_561+48insT (n.561+47_561+48insT) c.627+47_627+48insT (n.627+47_627+48insT) c.636+47_636+48insT (n.636+47_636+48insT) | |
1 | g.21568295_21568301del | CA2742753770 | ALPL | c.792+48_792+54del (n.792+48_792+54del) c.561+48_561+54del (n.561+48_561+54del) c.627+48_627+54del (n.627+48_627+54del) c.636+48_636+54del (n.636+48_636+54del) | |
1 | g.21568296A>T | CA2742753771 | ALPL | c.792+49A>T (n.792+49A>T) c.561+49A>T (n.561+49A>T) c.627+49A>T (n.627+49A>T) c.636+49A>T (n.636+49A>T) | |
1 | g.21568297G>A | CA2643930970 | ALPL | c.792+50G>A (n.792+50G>A) c.561+50G>A (n.561+50G>A) c.627+50G>A (n.627+50G>A) c.636+50G>A (n.636+50G>A) | gnomAD v4 |
1 | g.21568298del | CA2742753772 | ALPL | c.792+51del (n.792+51del) c.561+51del (n.561+51del) c.627+51del (n.627+51del) c.636+51del (n.636+51del) | |
1 | g.21568299G>A | CA2643930971 | ALPL | c.792+52G>A (n.792+52G>A) c.561+52G>A (n.561+52G>A) c.627+52G>A (n.627+52G>A) c.636+52G>A (n.636+52G>A) | gnomAD v4 |
1 | g.21568300G>A | CA19063601 | ALPL | c.792+53G>A (n.792+53G>A) c.561+53G>A (n.561+53G>A) c.627+53G>A (n.627+53G>A) c.636+53G>A (n.636+53G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.21568300G= | CA1144911367 | ALPL | c.792+53G= (n.792+53G=) c.561+53G= (n.561+53G=) c.627+53G= (n.627+53G=) c.636+53G= (n.636+53G=) | |
1 | g.21568301C>A | CA2643930972 | ALPL | c.792+54C>A (n.792+54C>A) c.561+54C>A (n.561+54C>A) c.627+54C>A (n.627+54C>A) c.636+54C>A (n.636+54C>A) | gnomAD v4 |
1 | g.21568301C>G | CA2742753773 | ALPL | c.792+54C>G (n.792+54C>G) c.561+54C>G (n.561+54C>G) c.627+54C>G (n.627+54C>G) c.636+54C>G (n.636+54C>G) | |
1 | g.21568301_21568303delinsCTG | CA1158016208 | ALPL | c.792+54_792+56delinsCTG (n.792+54_792+56delinsCTG) c.561+54_561+56delinsCTG (n.561+54_561+56delinsCTG) c.627+54_627+56delinsCTG (n.627+54_627+56delinsCTG) c.636+54_636+56delinsCTG (n.636+54_636+56delinsCTG) |