Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96253903_96254383del | CA2573135942 | TMEM127 | c.410-265_625del c.158-265_373del c.-509-265_-294del | ClinVar dbSNP |
2 | g.96253990_96254064del | CA2751311961 | TMEM127 | c.462_536del (p.Ile154_Leu179delinsMet) c.210_284del (p.Ile70_Leu95delinsMet) c.-457_-383del (n.-457_-383del) | |
2 | g.96253991G>A | CA1777287 | TMEM127 | c.534C>T (p.Tyr178=) c.282C>T (p.Tyr94=) c.-385C>T (n.-385C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96253991G>C | CA347652490 | TMEM127 | c.534C>G (p.Tyr178Ter) c.282C>G (p.Tyr94Ter) c.-385C>G (n.-385C>G) | dbSNP |
2 | g.96253991G= | CA1272522102 | TMEM127 | c.534C= (p.Tyr178=) c.282C= (p.Tyr94=) c.-385C= (n.-385C=) | |
2 | g.96253991G>T | CA347652492 | TMEM127 | c.534C>A (p.Tyr178Ter) c.282C>A (p.Tyr94Ter) c.-385C>A (n.-385C>A) | gnomAD v4 |
2 | g.96253992T>A | CA347652495 | TMEM127 | c.533A>T (p.Tyr178Phe) c.281A>T (p.Tyr94Phe) c.-386A>T (n.-386A>T) | |
2 | g.96253992T>C | CA347652503 | TMEM127 | c.533A>G (p.Tyr178Cys) c.281A>G (p.Tyr94Cys) c.-386A>G (n.-386A>G) | gnomAD v4 |
2 | g.96253992T>G | CA347652505 | TMEM127 | c.533A>C (p.Tyr178Ser) c.281A>C (p.Tyr94Ser) c.-386A>C (n.-386A>C) | dbSNP |
2 | g.96253992T= | CA1272522103 | TMEM127 | c.533A= (p.Tyr178=) c.281A= (p.Tyr94=) c.-386A= (n.-386A=) | |
2 | g.96253993del | CA2660177237 | TMEM127 | c.532del (p.Tyr178ThrfsTer?) c.280del (p.Tyr94ThrfsTer?) c.-387del (n.-387del) | gnomAD v4 |
2 | g.96253993A= | CA1272522104 | TMEM127 | c.532T= (p.Tyr178=) c.280T= (p.Tyr94=) c.-387T= (n.-387T=) | |
2 | g.96253993A>C | CA347652507 | TMEM127 | c.532T>G (p.Tyr178Asp) c.280T>G (p.Tyr94Asp) c.-387T>G (n.-387T>G) | |
2 | g.96253993A>G | CA347652510 | TMEM127 | c.532T>C (p.Tyr178His) c.280T>C (p.Tyr94His) c.-387T>C (n.-387T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96253993A>T | CA347652513 | TMEM127 | c.532T>A (p.Tyr178Asn) c.280T>A (p.Tyr94Asn) c.-387T>A (n.-387T>A) | |
2 | g.96253993dup | CA16617773 | TMEM127 | c.532dup (p.Tyr178LeufsTer?) c.280dup (p.Tyr94LeufsTer?) c.-387dup (n.-387dup) | ClinVar dbSNP |
2 | g.96253995_96254009dup | CA2586964988 | TMEM127 | c.518_532dup (p.Phe177_Tyr178insPheAlaValSerPhe) c.266_280dup (p.Phe93_Tyr94insPheAlaValSerPhe) c.-401_-387dup (n.-401_-387dup) | |
2 | g.96253994G>A | CA427808038 | TMEM127 | c.531C>T (p.Phe177=) c.279C>T (p.Phe93=) c.-388C>T (n.-388C>T) | dbSNP COSMIC |
2 | g.96253994G>C | CA347652517 | TMEM127 | c.531C>G (p.Phe177Leu) c.279C>G (p.Phe93Leu) c.-388C>G (n.-388C>G) | dbSNP |
2 | g.96253994G>T | CA347652519 | TMEM127 | c.531C>A (p.Phe177Leu) c.279C>A (p.Phe93Leu) c.-388C>A (n.-388C>A) | |
2 | g.96253994_96253995delinsGA | CA1272522105 | TMEM127 | c.530_531delinsTC (p.Phe177=) c.278_279delinsTC (p.Phe93=) c.-389_-388delinsTC (n.-389_-388delinsTC) | |
2 | g.96253995A>C | CA347652522 | TMEM127 | c.530T>G (p.Phe177Cys) c.278T>G (p.Phe93Cys) c.-389T>G (n.-389T>G) | |
2 | g.96253995A>G | CA347652520 | TMEM127 | c.530T>C (p.Phe177Ser) c.278T>C (p.Phe93Ser) c.-389T>C (n.-389T>C) | |
2 | g.96253995A>T | CA347652521 | TMEM127 | c.530T>A (p.Phe177Tyr) c.278T>A (p.Phe93Tyr) c.-389T>A (n.-389T>A) | |
2 | g.96253996del | CA916081310 | TMEM127 | c.530del (p.Phe177SerfsTer?) c.278del (p.Phe93SerfsTer?) c.-389del (n.-389del) | ClinVar dbSNP |
2 | g.96253996A>C | CA347652523 | TMEM127 | c.529T>G (p.Phe177Val) c.277T>G (p.Phe93Val) c.-390T>G (n.-390T>G) | ClinVar |
2 | g.96253996A>G | CA347652524 | TMEM127 | c.529T>C (p.Phe177Leu) c.277T>C (p.Phe93Leu) c.-390T>C (n.-390T>C) | dbSNP |
2 | g.96253996A>T | CA347652526 | TMEM127 | c.529T>A (p.Phe177Ile) c.277T>A (p.Phe93Ile) c.-390T>A (n.-390T>A) | dbSNP |
2 | g.96253997G>A | CA427808041 | TMEM127 | c.528C>T (p.Ser176=) c.276C>T (p.Ser92=) c.-391C>T (n.-391C>T) | dbSNP |
2 | g.96253997G>C | CA347652527 | TMEM127 | c.528C>G (p.Ser176Arg) c.276C>G (p.Ser92Arg) c.-391C>G (n.-391C>G) | |
2 | g.96253997G= | CA1272522106 | TMEM127 | c.528C= (p.Ser176=) c.276C= (p.Ser92=) c.-391C= (n.-391C=) | |
2 | g.96253997G>T | CA347652528 | TMEM127 | c.528C>A (p.Ser176Arg) c.276C>A (p.Ser92Arg) c.-391C>A (n.-391C>A) | |
2 | g.96253997_96253998insGTGG | CA2660177244 | TMEM127 | c.528_529insCACC (p.Phe177HisfsTer?) c.276_277insCACC (p.Phe93HisfsTer?) c.-391_-390insCACC (n.-391_-390insCACC) | gnomAD v4 |
2 | g.96253998C>A | CA347652530 | TMEM127 | c.527G>T (p.Ser176Ile) c.275G>T (p.Ser92Ile) c.-392G>T (n.-392G>T) | ClinVar dbSNP |
2 | g.96253998C>G | CA347652532 | TMEM127 | c.527G>C (p.Ser176Thr) c.275G>C (p.Ser92Thr) c.-392G>C (n.-392G>C) | dbSNP |
2 | g.96253998C>T | CA347652533 | TMEM127 | c.527G>A (p.Ser176Asn) c.275G>A (p.Ser92Asn) c.-392G>A (n.-392G>A) | |
2 | g.96253999T>A | CA347652534 | TMEM127 | c.526A>T (p.Ser176Cys) c.274A>T (p.Ser92Cys) c.-393A>T (n.-393A>T) | dbSNP |
2 | g.96253999T>C | CA347652535 | TMEM127 | c.526A>G (p.Ser176Gly) c.274A>G (p.Ser92Gly) c.-393A>G (n.-393A>G) | ClinVar dbSNP |
2 | g.96253999T>G | CA347652542 | TMEM127 | c.526A>C (p.Ser176Arg) c.274A>C (p.Ser92Arg) c.-393A>C (n.-393A>C) | |
2 | g.96253999T= | CA1272522107 | TMEM127 | c.526A= (p.Ser176=) c.274A= (p.Ser92=) c.-393A= (n.-393A=) | |
2 | g.96254000A>C | CA427808046 | TMEM127 | c.525T>G (p.Val175=) c.273T>G (p.Val91=) c.-394T>G (n.-394T>G) | |
2 | g.96254000A>G | CA427808047 | TMEM127 | c.525T>C (p.Val175=) c.273T>C (p.Val91=) c.-394T>C (n.-394T>C) | |
2 | g.96254000A>T | CA427808048 | TMEM127 | c.525T>A (p.Val175=) c.273T>A (p.Val91=) c.-394T>A (n.-394T>A) | |
2 | g.96254001A>C | CA347652547 | TMEM127 | c.524T>G (p.Val175Gly) c.272T>G (p.Val91Gly) c.-395T>G (n.-395T>G) | |
2 | g.96254001A>G | CA347652548 | TMEM127 | c.524T>C (p.Val175Ala) c.272T>C (p.Val91Ala) c.-395T>C (n.-395T>C) | dbSNP |
2 | g.96254001A>T | CA347652546 | TMEM127 | c.524T>A (p.Val175Asp) c.272T>A (p.Val91Asp) c.-395T>A (n.-395T>A) | dbSNP |
2 | g.96254002C>A | CA347652551 | TMEM127 | c.523G>T (p.Val175Phe) c.271G>T (p.Val91Phe) c.-396G>T (n.-396G>T) | ClinVar dbSNP |
2 | g.96254002C= | CA1272522108 | TMEM127 | c.523G= (p.Val175=) c.271G= (p.Val91=) c.-396G= (n.-396G=) | |
2 | g.96254002C>G | CA347652553 | TMEM127 | c.523G>C (p.Val175Leu) c.271G>C (p.Val91Leu) c.-396G>C (n.-396G>C) | ClinVar dbSNP |
2 | g.96254002C>T | CA1777288 | TMEM127 | c.523G>A (p.Val175Ile) c.271G>A (p.Val91Ile) c.-396G>A (n.-396G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96254003G>A | CA1777289 | TMEM127 | c.522C>T (p.Ala174=) c.270C>T (p.Ala90=) c.-397C>T (n.-397C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254003G>C | CA52412053 | TMEM127 | c.522C>G (p.Ala174=) c.270C>G (p.Ala90=) c.-397C>G (n.-397C>G) | dbSNP gnomAD v4 |
2 | g.96254003G= | CA1272522109 | TMEM127 | c.522C= (p.Ala174=) c.270C= (p.Ala90=) c.-397C= (n.-397C=) | |
2 | g.96254003G>T | CA427808053 | TMEM127 | c.522C>A (p.Ala174=) c.270C>A (p.Ala90=) c.-397C>A (n.-397C>A) | dbSNP |
2 | g.96254004G>A | CA52412055 | TMEM127 | c.521C>T (p.Ala174Val) c.269C>T (p.Ala90Val) c.-398C>T (n.-398C>T) | dbSNP COSMIC |
2 | g.96254004G>C | CA347652563 | TMEM127 | c.521C>G (p.Ala174Gly) c.269C>G (p.Ala90Gly) c.-398C>G (n.-398C>G) | dbSNP |
2 | g.96254004G= | CA1272522110 | TMEM127 | c.521C= (p.Ala174=) c.269C= (p.Ala90=) c.-398C= (n.-398C=) | |
2 | g.96254004G>T | CA347652561 | TMEM127 | c.521C>A (p.Ala174Asp) c.269C>A (p.Ala90Asp) c.-398C>A (n.-398C>A) | |
2 | g.96254005C>A | CA347652568 | TMEM127 | c.520G>T (p.Ala174Ser) c.268G>T (p.Ala90Ser) c.-399G>T (n.-399G>T) | dbSNP |
2 | g.96254005C= | CA1272522111 | TMEM127 | c.520G= (p.Ala174=) c.268G= (p.Ala90=) c.-399G= (n.-399G=) | |
2 | g.96254005C>G | CA347652569 | TMEM127 | c.520G>C (p.Ala174Pro) c.268G>C (p.Ala90Pro) c.-399G>C (n.-399G>C) | dbSNP |
2 | g.96254005C>T | CA1777290 | TMEM127 | c.520G>A (p.Ala174Thr) c.268G>A (p.Ala90Thr) c.-399G>A (n.-399G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254006G>A | CA1777291 | TMEM127 | c.519C>T (p.Phe173=) c.267C>T (p.Phe89=) c.-400C>T (n.-400C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254006G>C | CA347652572 | TMEM127 | c.519C>G (p.Phe173Leu) c.267C>G (p.Phe89Leu) c.-400C>G (n.-400C>G) | |
2 | g.96254006G= | CA1272522112 | TMEM127 | c.519C= (p.Phe173=) c.267C= (p.Phe89=) c.-400C= (n.-400C=) | |
2 | g.96254006G>T | CA347652573 | TMEM127 | c.519C>A (p.Phe173Leu) c.267C>A (p.Phe89Leu) c.-400C>A (n.-400C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254007A= | CA1272522113 | TMEM127 | c.518T= (p.Phe173=) c.266T= (p.Phe89=) c.-401T= (n.-401T=) | |
2 | g.96254007A>C | CA347652574 | TMEM127 | c.518T>G (p.Phe173Cys) c.266T>G (p.Phe89Cys) c.-401T>G (n.-401T>G) | ClinVar dbSNP |
2 | g.96254007A>G | CA347652576 | TMEM127 | c.518T>C (p.Phe173Ser) c.266T>C (p.Phe89Ser) c.-401T>C (n.-401T>C) | |
2 | g.96254007A>T | CA347652575 | TMEM127 | c.518T>A (p.Phe173Tyr) c.266T>A (p.Phe89Tyr) c.-401T>A (n.-401T>A) | |
2 | g.96254008del | CA2700001553 | TMEM127 | c.518del (p.Phe173SerfsTer?) c.266del (p.Phe89SerfsTer?) c.-401del (n.-401del) | dbSNP |
2 | g.96254008A>C | CA347652580 | TMEM127 | c.517T>G (p.Phe173Val) c.265T>G (p.Phe89Val) c.-402T>G (n.-402T>G) | |
2 | g.96254008A>G | CA347652582 | TMEM127 | c.517T>C (p.Phe173Leu) c.265T>C (p.Phe89Leu) c.-402T>C (n.-402T>C) | |
2 | g.96254008A>T | CA347652587 | TMEM127 | c.517T>A (p.Phe173Ile) c.265T>A (p.Phe89Ile) c.-402T>A (n.-402T>A) | |
2 | g.96254009G>A | CA427808058 | TMEM127 | c.516C>T (p.Thr172=) c.264C>T (p.Thr88=) c.-403C>T (n.-403C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254009G>C | CA427808059 | TMEM127 | c.516C>G (p.Thr172=) c.264C>G (p.Thr88=) c.-403C>G (n.-403C>G) | |
2 | g.96254009G>T | CA427808060 | TMEM127 | c.516C>A (p.Thr172=) c.264C>A (p.Thr88=) c.-403C>A (n.-403C>A) | dbSNP |
2 | g.96254010del | CA2825001167 | TMEM127 | c.516del (p.Phe173SerfsTer?) c.264del (p.Phe89SerfsTer?) c.-403del (n.-403del) | ClinVar |
2 | g.96254010G>A | CA347652589 | TMEM127 | c.515C>T (p.Thr172Ile) c.263C>T (p.Thr88Ile) c.-404C>T (n.-404C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254010G>C | CA347652591 | TMEM127 | c.515C>G (p.Thr172Ser) c.263C>G (p.Thr88Ser) c.-404C>G (n.-404C>G) | dbSNP |
2 | g.96254010G>T | CA347652593 | TMEM127 | c.515C>A (p.Thr172Asn) c.263C>A (p.Thr88Asn) c.-404C>A (n.-404C>A) | |
2 | g.96254011T>A | CA347652596 | TMEM127 | c.514A>T (p.Thr172Ser) c.262A>T (p.Thr88Ser) c.-405A>T (n.-405A>T) | dbSNP |
2 | g.96254011T>C | CA347652599 | TMEM127 | c.514A>G (p.Thr172Ala) c.262A>G (p.Thr88Ala) c.-405A>G (n.-405A>G) | dbSNP |
2 | g.96254011T>G | CA347652606 | TMEM127 | c.514A>C (p.Thr172Pro) c.262A>C (p.Thr88Pro) c.-405A>C (n.-405A>C) | dbSNP |
2 | g.96254011T= | CA1272522114 | TMEM127 | c.514A= (p.Thr172=) c.262A= (p.Thr88=) c.-405A= (n.-405A=) | |
2 | g.96254012G>A | CA427808064 | TMEM127 | c.513C>T (p.Val171=) c.261C>T (p.Val87=) c.-406C>T (n.-406C>T) | dbSNP |
2 | g.96254012G>C | CA427808065 | TMEM127 | c.513C>G (p.Val171=) c.261C>G (p.Val87=) c.-406C>G (n.-406C>G) | dbSNP |
2 | g.96254012G>T | CA427808066 | TMEM127 | c.513C>A (p.Val171=) c.261C>A (p.Val87=) c.-406C>A (n.-406C>A) | |
2 | g.96254012_96254013delinsGA | CA1272522115 | TMEM127 | c.512_513delinsTC (p.Val171=) c.260_261delinsTC (p.Val87=) c.-407_-406delinsTC (n.-407_-406delinsTC) | |
2 | g.96254013A= | CA1272522116 | TMEM127 | c.512T= (p.Val171=) c.260T= (p.Val87=) c.-407T= (n.-407T=) | |
2 | g.96254013A>C | CA347652612 | TMEM127 | c.512T>G (p.Val171Gly) c.260T>G (p.Val87Gly) c.-407T>G (n.-407T>G) | dbSNP gnomAD v4 |
2 | g.96254013A>G | CA347652614 | TMEM127 | c.512T>C (p.Val171Ala) c.260T>C (p.Val87Ala) c.-407T>C (n.-407T>C) | dbSNP |
2 | g.96254013A>T | CA347652617 | TMEM127 | c.512T>A (p.Val171Asp) c.260T>A (p.Val87Asp) c.-407T>A (n.-407T>A) | dbSNP |
2 | g.96254013delinsGGC | CA1139655616 | TMEM127 | c.512delinsGCC (p.Val171GlyfsTer?) c.260delinsGCC (p.Val87GlyfsTer?) c.-407delinsGCC (n.-407delinsGCC) | ClinVar dbSNP |
2 | g.96254014C>A | CA347652622 | TMEM127 | c.511G>T (p.Val171Phe) c.259G>T (p.Val87Phe) c.-408G>T (n.-408G>T) | dbSNP |
2 | g.96254014C>G | CA347652625 | TMEM127 | c.511G>C (p.Val171Leu) c.259G>C (p.Val87Leu) c.-408G>C (n.-408G>C) | ClinVar dbSNP |
2 | g.96254014C>T | CA347652620 | TMEM127 | c.511G>A (p.Val171Ile) c.259G>A (p.Val87Ile) c.-408G>A (n.-408G>A) | |
2 | g.96254015A>C | CA347652639 | TMEM127 | c.510T>G (p.Tyr170Ter) c.258T>G (p.Tyr86Ter) c.-409T>G (n.-409T>G) | |
2 | g.96254015A>G | CA427808069 | TMEM127 | c.510T>C (p.Tyr170=) c.258T>C (p.Tyr86=) c.-409T>C (n.-409T>C) | dbSNP |
2 | g.96254015A>T | CA347652641 | TMEM127 | c.510T>A (p.Tyr170Ter) c.258T>A (p.Tyr86Ter) c.-409T>A (n.-409T>A) | |
2 | g.96254016T>A | CA347652645 | TMEM127 | c.509A>T (p.Tyr170Phe) c.257A>T (p.Tyr86Phe) c.-410A>T (n.-410A>T) | dbSNP gnomAD v4 |
2 | g.96254016T>C | CA347652649 | TMEM127 | c.509A>G (p.Tyr170Cys) c.257A>G (p.Tyr86Cys) c.-410A>G (n.-410A>G) | ClinVar |
2 | g.96254016T>G | CA347652646 | TMEM127 | c.509A>C (p.Tyr170Ser) c.257A>C (p.Tyr86Ser) c.-410A>C (n.-410A>C) | |
2 | g.96254016_96254017insTT | CA2660177279 | TMEM127 | c.509_510insAA (p.Tyr170Ter) c.257_258insAA (p.Tyr86Ter) c.-410_-409insAA (n.-410_-409insAA) | gnomAD v4 |
2 | g.96254017A>C | CA347652652 | TMEM127 | c.508T>G (p.Tyr170Asp) c.256T>G (p.Tyr86Asp) c.-411T>G (n.-411T>G) | |
2 | g.96254017A>G | CA347652661 | TMEM127 | c.508T>C (p.Tyr170His) c.256T>C (p.Tyr86His) c.-411T>C (n.-411T>C) | dbSNP |
2 | g.96254017A>T | CA347652655 | TMEM127 | c.508T>A (p.Tyr170Asn) c.256T>A (p.Tyr86Asn) c.-411T>A (n.-411T>A) | |
2 | g.96254018G>A | CA427808071 | TMEM127 | c.507C>T (p.Val169=) c.255C>T (p.Val85=) c.-412C>T (n.-412C>T) | dbSNP |
2 | g.96254018G>C | CA427808072 | TMEM127 | c.507C>G (p.Val169=) c.255C>G (p.Val85=) c.-412C>G (n.-412C>G) | ClinVar dbSNP |
2 | g.96254018G= | CA1272522117 | TMEM127 | c.507C= (p.Val169=) c.255C= (p.Val85=) c.-412C= (n.-412C=) | |
2 | g.96254018G>T | CA427808074 | TMEM127 | c.507C>A (p.Val169=) c.255C>A (p.Val85=) c.-412C>A (n.-412C>A) | ClinVar dbSNP |
2 | g.96254019A= | CA1272522118 | TMEM127 | c.506T= (p.Val169=) c.254T= (p.Val85=) c.-413T= (n.-413T=) | |
2 | g.96254019A>C | CA347652663 | TMEM127 | c.506T>G (p.Val169Gly) c.254T>G (p.Val85Gly) c.-413T>G (n.-413T>G) | dbSNP gnomAD v4 |
2 | g.96254019A>G | CA347652665 | TMEM127 | c.506T>C (p.Val169Ala) c.254T>C (p.Val85Ala) c.-413T>C (n.-413T>C) | |
2 | g.96254019A>T | CA347652667 | TMEM127 | c.506T>A (p.Val169Asp) c.254T>A (p.Val85Asp) c.-413T>A (n.-413T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254020C>A | CA347652670 | TMEM127 | c.505G>T (p.Val169Phe) c.253G>T (p.Val85Phe) c.-414G>T (n.-414G>T) | dbSNP |
2 | g.96254020C= | CA1272522119 | TMEM127 | c.505G= (p.Val169=) c.253G= (p.Val85=) c.-414G= (n.-414G=) | |
2 | g.96254020C>G | CA1777292 | TMEM127 | c.505G>C (p.Val169Leu) c.253G>C (p.Val85Leu) c.-414G>C (n.-414G>C) | dbSNP ExAC gnomAD v2 |
2 | g.96254020C>T | CA347652674 | TMEM127 | c.505G>A (p.Val169Ile) c.253G>A (p.Val85Ile) c.-414G>A (n.-414G>A) | ClinVar |
2 | g.96254021C>A | CA347652676 | TMEM127 | c.504G>T (p.Gln168His) c.252G>T (p.Gln84His) c.-415G>T (n.-415G>T) | dbSNP |
2 | g.96254021C>G | CA347652679 | TMEM127 | c.504G>C (p.Gln168His) c.252G>C (p.Gln84His) c.-415G>C (n.-415G>C) | ClinVar |
2 | g.96254021C>T | CA427808075 | TMEM127 | c.504G>A (p.Gln168=) c.252G>A (p.Gln84=) c.-415G>A (n.-415G>A) | |
2 | g.96254022T>A | CA347652685 | TMEM127 | c.503A>T (p.Gln168Leu) c.251A>T (p.Gln84Leu) c.-416A>T (n.-416A>T) | dbSNP |
2 | g.96254022T>C | CA347652687 | TMEM127 | c.503A>G (p.Gln168Arg) c.251A>G (p.Gln84Arg) c.-416A>G (n.-416A>G) | dbSNP |
2 | g.96254022T>G | CA347652690 | TMEM127 | c.503A>C (p.Gln168Pro) c.251A>C (p.Gln84Pro) c.-416A>C (n.-416A>C) | |
2 | g.96254023G>A | CA347652696 | TMEM127 | c.502C>T (p.Gln168Ter) c.250C>T (p.Gln84Ter) c.-417C>T (n.-417C>T) | dbSNP |
2 | g.96254023G>C | CA347652695 | TMEM127 | c.502C>G (p.Gln168Glu) c.250C>G (p.Gln84Glu) c.-417C>G (n.-417C>G) | |
2 | g.96254023G= | CA1272522120 | TMEM127 | c.502C= (p.Gln168=) c.250C= (p.Gln84=) c.-417C= (n.-417C=) | |
2 | g.96254023G>T | CA347652692 | TMEM127 | c.502C>A (p.Gln168Lys) c.250C>A (p.Gln84Lys) c.-417C>A (n.-417C>A) | dbSNP |
2 | g.96254024G>A | CA427808077 | TMEM127 | c.501C>T (p.Ser167=) c.249C>T (p.Ser83=) c.-418C>T (n.-418C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254024G>C | CA427808078 | TMEM127 | c.501C>G (p.Ser167=) c.249C>G (p.Ser83=) c.-418C>G (n.-418C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254024G= | CA1272522121 | TMEM127 | c.501C= (p.Ser167=) c.249C= (p.Ser83=) c.-418C= (n.-418C=) | |
2 | g.96254024G>T | CA427808079 | TMEM127 | c.501C>A (p.Ser167=) c.249C>A (p.Ser83=) c.-418C>A (n.-418C>A) | |
2 | g.96254025G>A | CA52412069 | TMEM127 | c.500C>T (p.Ser167Phe) c.248C>T (p.Ser83Phe) c.-419C>T (n.-419C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254025G>C | CA347652701 | TMEM127 | c.500C>G (p.Ser167Cys) c.248C>G (p.Ser83Cys) c.-419C>G (n.-419C>G) | |
2 | g.96254025G= | CA1272522122 | TMEM127 | c.500C= (p.Ser167=) c.248C= (p.Ser83=) c.-419C= (n.-419C=) | |
2 | g.96254025G>T | CA347652704 | TMEM127 | c.500C>A (p.Ser167Tyr) c.248C>A (p.Ser83Tyr) c.-419C>A (n.-419C>A) | dbSNP |
2 | g.96254026A>C | CA347652706 | TMEM127 | c.499T>G (p.Ser167Ala) c.247T>G (p.Ser83Ala) c.-420T>G (n.-420T>G) | dbSNP |
2 | g.96254026A>G | CA347652707 | TMEM127 | c.499T>C (p.Ser167Pro) c.247T>C (p.Ser83Pro) c.-420T>C (n.-420T>C) | |
2 | g.96254026A>T | CA347652709 | TMEM127 | c.499T>A (p.Ser167Thr) c.247T>A (p.Ser83Thr) c.-420T>A (n.-420T>A) | |
2 | g.96254027T>A | CA427808080 | TMEM127 | c.498A>T (p.Gly166=) c.246A>T (p.Gly82=) c.-421A>T (n.-421A>T) | |
2 | g.96254027T>C | CA427808082 | TMEM127 | c.498A>G (p.Gly166=) c.246A>G (p.Gly82=) c.-421A>G (n.-421A>G) | |
2 | g.96254027T>G | CA427808081 | TMEM127 | c.498A>C (p.Gly166=) c.246A>C (p.Gly82=) c.-421A>C (n.-421A>C) | |
2 | g.96254028C>A | CA347652710 | TMEM127 | c.497G>T (p.Gly166Val) c.245G>T (p.Gly82Val) c.-422G>T (n.-422G>T) | dbSNP |
2 | g.96254028C>G | CA347652714 | TMEM127 | c.497G>C (p.Gly166Ala) c.245G>C (p.Gly82Ala) c.-422G>C (n.-422G>C) | dbSNP COSMIC |
2 | g.96254028C>T | CA347652715 | TMEM127 | c.497G>A (p.Gly166Glu) c.245G>A (p.Gly82Glu) c.-422G>A (n.-422G>A) | gnomAD v4 |
2 | g.96254029del | CA1139768282 | TMEM127 | c.497del (p.Gly166AspfsTer?) c.245del (p.Gly82AspfsTer?) c.-422del (n.-422del) | |
2 | g.96254029C>A | CA347652718 | TMEM127 | c.496G>T (p.Gly166Ter) c.244G>T (p.Gly82Ter) c.-423G>T (n.-423G>T) | |
2 | g.96254029C= | CA1272522123 | TMEM127 | c.496G= (p.Gly166=) c.244G= (p.Gly82=) c.-423G= (n.-423G=) | |
2 | g.96254029C>G | CA347652721 | TMEM127 | c.496G>C (p.Gly166Arg) c.244G>C (p.Gly82Arg) c.-423G>C (n.-423G>C) | |
2 | g.96254029C>T | CA52412072 | TMEM127 | c.496G>A (p.Gly166Arg) c.244G>A (p.Gly82Arg) c.-423G>A (n.-423G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254030A>C | CA347652726 | TMEM127 | c.495T>G (p.His165Gln) c.243T>G (p.His81Gln) c.-424T>G (n.-424T>G) | |
2 | g.96254030A>G | CA427808086 | TMEM127 | c.495T>C (p.His165=) c.243T>C (p.His81=) c.-424T>C (n.-424T>C) | ClinVar gnomAD v4 |
2 | g.96254030A>T | CA347652730 | TMEM127 | c.495T>A (p.His165Gln) c.243T>A (p.His81Gln) c.-424T>A (n.-424T>A) | dbSNP |
2 | g.96254031T>A | CA347652736 | TMEM127 | c.494A>T (p.His165Leu) c.242A>T (p.His81Leu) c.-425A>T (n.-425A>T) | dbSNP |
2 | g.96254031T>C | CA1777293 | TMEM127 | c.494A>G (p.His165Arg) c.242A>G (p.His81Arg) c.-425A>G (n.-425A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254031T>G | CA347652738 | TMEM127 | c.494A>C (p.His165Pro) c.242A>C (p.His81Pro) c.-425A>C (n.-425A>C) | |
2 | g.96254031T= | CA1272522124 | TMEM127 | c.494A= (p.His165=) c.242A= (p.His81=) c.-425A= (n.-425A=) | |
2 | g.96254032G>A | CA347652740 | TMEM127 | c.493C>T (p.His165Tyr) c.241C>T (p.His81Tyr) c.-426C>T (n.-426C>T) | dbSNP |
2 | g.96254032G>C | CA347652741 | TMEM127 | c.493C>G (p.His165Asp) c.241C>G (p.His81Asp) c.-426C>G (n.-426C>G) | |
2 | g.96254032G>T | CA347652743 | TMEM127 | c.493C>A (p.His165Asn) c.241C>A (p.His81Asn) c.-426C>A (n.-426C>A) | |
2 | g.96254033G>A | CA427808088 | TMEM127 | c.492C>T (p.Tyr164=) c.240C>T (p.Tyr80=) c.-427C>T (n.-427C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254033G>C | CA347652745 | TMEM127 | c.492C>G (p.Tyr164Ter) c.240C>G (p.Tyr80Ter) c.-427C>G (n.-427C>G) | dbSNP |
2 | g.96254033G>T | CA347652747 | TMEM127 | c.492C>A (p.Tyr164Ter) c.240C>A (p.Tyr80Ter) c.-427C>A (n.-427C>A) | |
2 | g.96254034T>A | CA347652749 | TMEM127 | c.491A>T (p.Tyr164Phe) c.239A>T (p.Tyr80Phe) c.-428A>T (n.-428A>T) | dbSNP |
2 | g.96254034T>C | CA347652751 | TMEM127 | c.491A>G (p.Tyr164Cys) c.239A>G (p.Tyr80Cys) c.-428A>G (n.-428A>G) | dbSNP |
2 | g.96254034T>G | CA347652756 | TMEM127 | c.491A>C (p.Tyr164Ser) c.239A>C (p.Tyr80Ser) c.-428A>C (n.-428A>C) | |
2 | g.96254035A= | CA1272522125 | TMEM127 | c.490T= (p.Tyr164=) c.238T= (p.Tyr80=) c.-429T= (n.-429T=) | |
2 | g.96254035A>C | CA347652760 | TMEM127 | c.490T>G (p.Tyr164Asp) c.238T>G (p.Tyr80Asp) c.-429T>G (n.-429T>G) | ClinVar dbSNP |
2 | g.96254035A>G | CA347652759 | TMEM127 | c.490T>C (p.Tyr164His) c.238T>C (p.Tyr80His) c.-429T>C (n.-429T>C) | ClinVar dbSNP |
2 | g.96254035A>T | CA347652758 | TMEM127 | c.490T>A (p.Tyr164Asn) c.238T>A (p.Tyr80Asn) c.-429T>A (n.-429T>A) | dbSNP |
2 | g.96254036C>A | CA347652761 | TMEM127 | c.489G>T (p.Lys163Asn) c.237G>T (p.Lys79Asn) c.-430G>T (n.-430G>T) | dbSNP |
2 | g.96254036C= | CA1272522126 | TMEM127 | c.489G= (p.Lys163=) c.237G= (p.Lys79=) c.-430G= (n.-430G=) | |
2 | g.96254036C>G | CA347652762 | TMEM127 | c.489G>C (p.Lys163Asn) c.237G>C (p.Lys79Asn) c.-430G>C (n.-430G>C) | dbSNP |
2 | g.96254036C>T | CA1777294 | TMEM127 | c.489G>A (p.Lys163=) c.237G>A (p.Lys79=) c.-430G>A (n.-430G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254037T>A | CA347652764 | TMEM127 | c.488A>T (p.Lys163Met) c.236A>T (p.Lys79Met) c.-431A>T (n.-431A>T) | dbSNP |
2 | g.96254037T>C | CA347652765 | TMEM127 | c.488A>G (p.Lys163Arg) c.236A>G (p.Lys79Arg) c.-431A>G (n.-431A>G) | |
2 | g.96254037T>G | CA347652767 | TMEM127 | c.488A>C (p.Lys163Thr) c.236A>C (p.Lys79Thr) c.-431A>C (n.-431A>C) | |
2 | g.96254038T>A | CA347652771 | TMEM127 | c.487A>T (p.Lys163Ter) c.235A>T (p.Lys79Ter) c.-432A>T (n.-432A>T) | dbSNP |
2 | g.96254038T>C | CA347652772 | TMEM127 | c.487A>G (p.Lys163Glu) c.235A>G (p.Lys79Glu) c.-432A>G (n.-432A>G) | |
2 | g.96254038T>G | CA347652775 | TMEM127 | c.487A>C (p.Lys163Gln) c.235A>C (p.Lys79Gln) c.-432A>C (n.-432A>C) | |
2 | g.96254038T= | CA1272522127 | TMEM127 | c.487A= (p.Lys163=) c.235A= (p.Lys79=) c.-432A= (n.-432A=) | |
2 | g.96254038_96254042delinsACTTATGC | CA2740095671 | TMEM127 | c.483_487delinsGCATAAGT (p.His161GlnfsTer4) c.231_235delinsGCATAAGT (p.His77GlnfsTer4) c.-436_-432delinsGCATAAGT (n.-436_-432delinsGCATAAGT) | ClinVar |
2 | g.96254039C>A | CA347652777 | TMEM127 | c.486G>T (p.Lys162Asn) c.234G>T (p.Lys78Asn) c.-433G>T (n.-433G>T) | |
2 | g.96254039C= | CA1272522128 | TMEM127 | c.486G= (p.Lys162=) c.234G= (p.Lys78=) c.-433G= (n.-433G=) | |
2 | g.96254039C>G | CA347652786 | TMEM127 | c.486G>C (p.Lys162Asn) c.234G>C (p.Lys78Asn) c.-433G>C (n.-433G>C) | |
2 | g.96254039C>T | CA1777295 | TMEM127 | c.486G>A (p.Lys162=) c.234G>A (p.Lys78=) c.-433G>A (n.-433G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254040T>A | CA347652794 | TMEM127 | c.485A>T (p.Lys162Met) c.233A>T (p.Lys78Met) c.-434A>T (n.-434A>T) | |
2 | g.96254040T>C | CA1777296 | TMEM127 | c.485A>G (p.Lys162Arg) c.233A>G (p.Lys78Arg) c.-434A>G (n.-434A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254040T>G | CA347652790 | TMEM127 | c.485A>C (p.Lys162Thr) c.233A>C (p.Lys78Thr) c.-434A>C (n.-434A>C) | |
2 | g.96254040T= | CA1272522129 | TMEM127 | c.485A= (p.Lys162=) c.233A= (p.Lys78=) c.-434A= (n.-434A=) | |
2 | g.96254041T>A | CA347652797 | TMEM127 | c.484A>T (p.Lys162Ter) c.232A>T (p.Lys78Ter) c.-435A>T (n.-435A>T) | dbSNP |
2 | g.96254041T>C | CA347652798 | TMEM127 | c.484A>G (p.Lys162Glu) c.232A>G (p.Lys78Glu) c.-435A>G (n.-435A>G) | dbSNP |
2 | g.96254041T>G | CA347652801 | TMEM127 | c.484A>C (p.Lys162Gln) c.232A>C (p.Lys78Gln) c.-435A>C (n.-435A>C) | ClinVar dbSNP |
2 | g.96254041T= | CA1272522130 | TMEM127 | c.484A= (p.Lys162=) c.232A= (p.Lys78=) c.-435A= (n.-435A=) | |
2 | g.96254042A>C | CA347652807 | TMEM127 | c.483T>G (p.His161Gln) c.231T>G (p.His77Gln) c.-436T>G (n.-436T>G) | |
2 | g.96254042A>G | CA427808094 | TMEM127 | c.483T>C (p.His161=) c.231T>C (p.His77=) c.-436T>C (n.-436T>C) | |
2 | g.96254042A>T | CA347652808 | TMEM127 | c.483T>A (p.His161Gln) c.231T>A (p.His77Gln) c.-436T>A (n.-436T>A) | |
2 | g.96254042_96254045delinsATGC | CA1272522131 | TMEM127 | c.480_483delinsGCAT (p.Gln160=) c.228_231delinsGCAT (p.Gln76=) c.-439_-436delinsGCAT (n.-439_-436delinsGCAT) | |
2 | g.96254043T>A | CA347652816 | TMEM127 | c.482A>T (p.His161Leu) c.230A>T (p.His77Leu) c.-437A>T (n.-437A>T) | |
2 | g.96254043T>C | CA52412084 | TMEM127 | c.482A>G (p.His161Arg) c.230A>G (p.His77Arg) c.-437A>G (n.-437A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254043T>G | CA347652811 | TMEM127 | c.482A>C (p.His161Pro) c.230A>C (p.His77Pro) c.-437A>C (n.-437A>C) | |
2 | g.96254043T= | CA1272522132 | TMEM127 | c.482A= (p.His161=) c.230A= (p.His77=) c.-437A= (n.-437A=) | |
2 | g.96254054_96254056dup | CA534634932 | TMEM127 | c.480_482dup (p.Gln160_His161insGln) c.228_230dup (p.Gln76_His77insGln) c.-439_-437dup (n.-439_-437dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.96254051_96254056dup | CA2660177334 | TMEM127 | c.477_482dup (p.Gln160_His161insGlnGln) c.225_230dup (p.Gln76_His77insGlnGln) c.-442_-437dup (n.-442_-437dup) | gnomAD v4 |
2 | g.96254054_96254056del | CA1777297 | TMEM127 | c.480_482del (p.Gln160del) c.228_230del (p.Gln76del) c.-439_-437del (n.-439_-437del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.96254051_96254056del | CA2699676146 | TMEM127 | c.477_482del (p.Gln159_Gln160del) c.225_230del (p.Gln75_Gln76del) c.-442_-437del (n.-442_-437del) | dbSNP |
2 | g.96254044G>A | CA347652819 | TMEM127 | c.481C>T (p.His161Tyr) c.229C>T (p.His77Tyr) c.-438C>T (n.-438C>T) | dbSNP |
2 | g.96254044G>C | CA347652821 | TMEM127 | c.481C>G (p.His161Asp) c.229C>G (p.His77Asp) c.-438C>G (n.-438C>G) | dbSNP |
2 | g.96254044G>T | CA347652824 | TMEM127 | c.481C>A (p.His161Asn) c.229C>A (p.His77Asn) c.-438C>A (n.-438C>A) | |
2 | g.96254045C>A | CA347652826 | TMEM127 | c.480G>T (p.Gln160His) c.228G>T (p.Gln76His) c.-439G>T (n.-439G>T) | |
2 | g.96254045C>G | CA347652828 | TMEM127 | c.480G>C (p.Gln160His) c.228G>C (p.Gln76His) c.-439G>C (n.-439G>C) | |
2 | g.96254045C>T | CA427808097 | TMEM127 | c.480G>A (p.Gln160=) c.228G>A (p.Gln76=) c.-439G>A (n.-439G>A) | gnomAD v4 |
2 | g.96254046T>A | CA347652836 | TMEM127 | c.479A>T (p.Gln160Leu) c.227A>T (p.Gln76Leu) c.-440A>T (n.-440A>T) | |
2 | g.96254046T>C | CA347652830 | TMEM127 | c.479A>G (p.Gln160Arg) c.227A>G (p.Gln76Arg) c.-440A>G (n.-440A>G) | |
2 | g.96254046T>G | CA347652833 | TMEM127 | c.479A>C (p.Gln160Pro) c.227A>C (p.Gln76Pro) c.-440A>C (n.-440A>C) | |
2 | g.96254047G>A | CA347652838 | TMEM127 | c.478C>T (p.Gln160Ter) c.226C>T (p.Gln76Ter) c.-441C>T (n.-441C>T) | ClinVar dbSNP |
2 | g.96254047G>C | CA347652840 | TMEM127 | c.478C>G (p.Gln160Glu) c.226C>G (p.Gln76Glu) c.-441C>G (n.-441C>G) | dbSNP |
2 | g.96254047G= | CA1272522133 | TMEM127 | c.478C= (p.Gln160=) c.226C= (p.Gln76=) c.-441C= (n.-441C=) | |
2 | g.96254047G>T | CA347652842 | TMEM127 | c.478C>A (p.Gln160Lys) c.226C>A (p.Gln76Lys) c.-441C>A (n.-441C>A) | |
2 | g.96254048C>A | CA347652843 | TMEM127 | c.477G>T (p.Gln159His) c.225G>T (p.Gln75His) c.-442G>T (n.-442G>T) | |
2 | g.96254048C>G | CA347652845 | TMEM127 | c.477G>C (p.Gln159His) c.225G>C (p.Gln75His) c.-442G>C (n.-442G>C) | |
2 | g.96254048C>T | CA427808099 | TMEM127 | c.477G>A (p.Gln159=) c.225G>A (p.Gln75=) c.-442G>A (n.-442G>A) | dbSNP |
2 | g.96254049T>A | CA347652846 | TMEM127 | c.476A>T (p.Gln159Leu) c.224A>T (p.Gln75Leu) c.-443A>T (n.-443A>T) | |
2 | g.96254049T>C | CA347652849 | TMEM127 | c.476A>G (p.Gln159Arg) c.224A>G (p.Gln75Arg) c.-443A>G (n.-443A>G) | COSMIC |
2 | g.96254049T>G | CA347652852 | TMEM127 | c.476A>C (p.Gln159Pro) c.224A>C (p.Gln75Pro) c.-443A>C (n.-443A>C) | |
2 | g.96254050G>A | CA113855 | TMEM127 | c.475C>T (p.Gln159Ter) c.223C>T (p.Gln75Ter) c.-444C>T (n.-444C>T) | ClinVar dbSNP |
2 | g.96254050G>C | CA347652858 | TMEM127 | c.475C>G (p.Gln159Glu) c.223C>G (p.Gln75Glu) c.-444C>G (n.-444C>G) | |
2 | g.96254050G= | CA1272522134 | TMEM127 | c.475C= (p.Gln159=) c.223C= (p.Gln75=) c.-444C= (n.-444C=) | |
2 | g.96254050G>T | CA347652860 | TMEM127 | c.475C>A (p.Gln159Lys) c.223C>A (p.Gln75Lys) c.-444C>A (n.-444C>A) | |
2 | g.96254051C>A | CA347652867 | TMEM127 | c.474G>T (p.Gln158His) c.222G>T (p.Gln74His) c.-445G>T (n.-445G>T) | |
2 | g.96254051C>G | CA347652869 | TMEM127 | c.474G>C (p.Gln158His) c.222G>C (p.Gln74His) c.-445G>C (n.-445G>C) | |
2 | g.96254051C>T | CA427808102 | TMEM127 | c.474G>A (p.Gln158=) c.222G>A (p.Gln74=) c.-445G>A (n.-445G>A) | dbSNP |
2 | g.96254052T>A | CA347652871 | TMEM127 | c.473A>T (p.Gln158Leu) c.221A>T (p.Gln74Leu) c.-446A>T (n.-446A>T) | |
2 | g.96254052T>C | CA347652875 | TMEM127 | c.473A>G (p.Gln158Arg) c.221A>G (p.Gln74Arg) c.-446A>G (n.-446A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254052T>G | CA347652874 | TMEM127 | c.473A>C (p.Gln158Pro) c.221A>C (p.Gln74Pro) c.-446A>C (n.-446A>C) | |
2 | g.96254052T= | CA1272522135 | TMEM127 | c.473A= (p.Gln158=) c.221A= (p.Gln74=) c.-446A= (n.-446A=) | |
2 | g.96254053G>A | CA1777298 | TMEM127 | c.472C>T (p.Gln158Ter) c.220C>T (p.Gln74Ter) c.-447C>T (n.-447C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254053G>C | CA10614652 | TMEM127 | c.472C>G (p.Gln158Glu) c.220C>G (p.Gln74Glu) c.-447C>G (n.-447C>G) | ClinVar dbSNP |
2 | g.96254053G= | CA1272522136 | TMEM127 | c.472C= (p.Gln158=) c.220C= (p.Gln74=) c.-447C= (n.-447C=) | |
2 | g.96254053G>T | CA347652882 | TMEM127 | c.472C>A (p.Gln158Lys) c.220C>A (p.Gln74Lys) c.-447C>A (n.-447C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254054C>A | CA347652883 | TMEM127 | c.471G>T (p.Gln157His) c.219G>T (p.Gln73His) c.-448G>T (n.-448G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254054C>G | CA347652885 | TMEM127 | c.471G>C (p.Gln157His) c.219G>C (p.Gln73His) c.-448G>C (n.-448G>C) | dbSNP |
2 | g.96254054C>T | CA427808104 | TMEM127 | c.471G>A (p.Gln157=) c.219G>A (p.Gln73=) c.-448G>A (n.-448G>A) | dbSNP |
2 | g.96254055del | CA2660177356 | TMEM127 | c.470del (p.Gln157ArgfsTer?) c.218del (p.Gln73ArgfsTer?) c.-449del (n.-449del) | gnomAD v4 |
2 | g.96254055T>A | CA347652887 | TMEM127 | c.470A>T (p.Gln157Leu) c.218A>T (p.Gln73Leu) c.-449A>T (n.-449A>T) | |
2 | g.96254055T>C | CA347652890 | TMEM127 | c.470A>G (p.Gln157Arg) c.218A>G (p.Gln73Arg) c.-449A>G (n.-449A>G) | |
2 | g.96254055T>G | CA347652893 | TMEM127 | c.470A>C (p.Gln157Pro) c.218A>C (p.Gln73Pro) c.-449A>C (n.-449A>C) | ClinVar |
2 | g.96254056G>A | CA1777299 | TMEM127 | c.469C>T (p.Gln157Ter) c.217C>T (p.Gln73Ter) c.-450C>T (n.-450C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254056G>C | CA347652896 | TMEM127 | c.469C>G (p.Gln157Glu) c.217C>G (p.Gln73Glu) c.-450C>G (n.-450C>G) | |
2 | g.96254056G= | CA1272522137 | TMEM127 | c.469C= (p.Gln157=) c.217C= (p.Gln73=) c.-450C= (n.-450C=) | |
2 | g.96254056G>T | CA347652899 | TMEM127 | c.469C>A (p.Gln157Lys) c.217C>A (p.Gln73Lys) c.-450C>A (n.-450C>A) | |
2 | g.96254057G>A | CA427808111 | TMEM127 | c.468C>T (p.Ala156=) c.216C>T (p.Ala72=) c.-451C>T (n.-451C>T) | ClinVar dbSNP |
2 | g.96254057G>C | CA427808112 | TMEM127 | c.468C>G (p.Ala156=) c.216C>G (p.Ala72=) c.-451C>G (n.-451C>G) | |
2 | g.96254057G= | CA1272522138 | TMEM127 | c.468C= (p.Ala156=) c.216C= (p.Ala72=) c.-451C= (n.-451C=) | |
2 | g.96254057G>T | CA1777300 | TMEM127 | c.468C>A (p.Ala156=) c.216C>A (p.Ala72=) c.-451C>A (n.-451C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254058G>A | CA52412116 | TMEM127 | c.467C>T (p.Ala156Val) c.215C>T (p.Ala72Val) c.-452C>T (n.-452C>T) | dbSNP |
2 | g.96254058G>C | CA347652904 | TMEM127 | c.467C>G (p.Ala156Gly) c.215C>G (p.Ala72Gly) c.-452C>G (n.-452C>G) | |
2 | g.96254058G= | CA1272522139 | TMEM127 | c.467C= (p.Ala156=) c.215C= (p.Ala72=) c.-452C= (n.-452C=) | |
2 | g.96254058G>T | CA347652907 | TMEM127 | c.467C>A (p.Ala156Asp) c.215C>A (p.Ala72Asp) c.-452C>A (n.-452C>A) | |
2 | g.96254059C>A | CA347652911 | TMEM127 | c.466G>T (p.Ala156Ser) c.214G>T (p.Ala72Ser) c.-453G>T (n.-453G>T) | dbSNP |
2 | g.96254059C>G | CA347652913 | TMEM127 | c.466G>C (p.Ala156Pro) c.214G>C (p.Ala72Pro) c.-453G>C (n.-453G>C) | ClinVar |
2 | g.96254059C>T | CA347652914 | TMEM127 | c.466G>A (p.Ala156Thr) c.214G>A (p.Ala72Thr) c.-453G>A (n.-453G>A) | |
2 | g.96254060dup | CA2838795569 | TMEM127 | c.466dup (p.Ala156GlyfsTer7) c.214dup (p.Ala72GlyfsTer7) c.-453dup (n.-453dup) | |
2 | g.96254060C>A | CA347652916 | TMEM127 | c.465G>T (p.Leu155Phe) c.213G>T (p.Leu71Phe) c.-454G>T (n.-454G>T) | |
2 | g.96254060C>G | CA347652919 | TMEM127 | c.465G>C (p.Leu155Phe) c.213G>C (p.Leu71Phe) c.-454G>C (n.-454G>C) | |
2 | g.96254060C>T | CA427808116 | TMEM127 | c.465G>A (p.Leu155=) c.213G>A (p.Leu71=) c.-454G>A (n.-454G>A) | |
2 | g.96254061A= | CA1272522140 | TMEM127 | c.464T= (p.Leu155=) c.212T= (p.Leu71=) c.-455T= (n.-455T=) | |
2 | g.96254061A>C | CA347652922 | TMEM127 | c.464T>G (p.Leu155Trp) c.212T>G (p.Leu71Trp) c.-455T>G (n.-455T>G) | |
2 | g.96254061A>G | CA347652923 | TMEM127 | c.464T>C (p.Leu155Ser) c.212T>C (p.Leu71Ser) c.-455T>C (n.-455T>C) | |
2 | g.96254061A>T | CA10588348 | TMEM127 | c.464T>A (p.Leu155Ter) c.212T>A (p.Leu71Ter) c.-455T>A (n.-455T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254062A>C | CA347652925 | TMEM127 | c.463T>G (p.Leu155Val) c.211T>G (p.Leu71Val) c.-456T>G (n.-456T>G) | gnomAD v4 |
2 | g.96254062A>G | CA427808120 | TMEM127 | c.463T>C (p.Leu155=) c.211T>C (p.Leu71=) c.-456T>C (n.-456T>C) | ClinVar dbSNP |
2 | g.96254062A>T | CA347652926 | TMEM127 | c.463T>A (p.Leu155Met) c.211T>A (p.Leu71Met) c.-456T>A (n.-456T>A) | |
2 | g.96254063G>A | CA427808122 | TMEM127 | c.462C>T (p.Ile154=) c.210C>T (p.Ile70=) c.-457C>T (n.-457C>T) | |
2 | g.96254063G>C | CA52412122 | TMEM127 | c.462C>G (p.Ile154Met) c.210C>G (p.Ile70Met) c.-457C>G (n.-457C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254063G= | CA1272522141 | TMEM127 | c.462C= (p.Ile154=) c.210C= (p.Ile70=) c.-457C= (n.-457C=) | |
2 | g.96254063G>T | CA427808121 | TMEM127 | c.462C>A (p.Ile154=) c.210C>A (p.Ile70=) c.-457C>A (n.-457C>A) | |
2 | g.96254064A= | CA1272522142 | TMEM127 | c.461T= (p.Ile154=) c.209T= (p.Ile70=) c.-458T= (n.-458T=) | |
2 | g.96254064A>C | CA347652931 | TMEM127 | c.461T>G (p.Ile154Ser) c.209T>G (p.Ile70Ser) c.-458T>G (n.-458T>G) | |
2 | g.96254064A>G | CA347652929 | TMEM127 | c.461T>C (p.Ile154Thr) c.209T>C (p.Ile70Thr) c.-458T>C (n.-458T>C) | |
2 | g.96254064A>T | CA347652927 | TMEM127 | c.461T>A (p.Ile154Asn) c.209T>A (p.Ile70Asn) c.-458T>A (n.-458T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254065T>A | CA347652934 | TMEM127 | c.460A>T (p.Ile154Phe) c.208A>T (p.Ile70Phe) c.-459A>T (n.-459A>T) | gnomAD v4 |
2 | g.96254065T>C | CA347652940 | TMEM127 | c.460A>G (p.Ile154Val) c.208A>G (p.Ile70Val) c.-459A>G (n.-459A>G) | COSMIC |
2 | g.96254065T>G | CA347652937 | TMEM127 | c.460A>C (p.Ile154Leu) c.208A>C (p.Ile70Leu) c.-459A>C (n.-459A>C) | |
2 | g.96254066G>A | CA52412132 | TMEM127 | c.459C>T (p.Leu153=) c.207C>T (p.Leu69=) c.-460C>T (n.-460C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.96254066G>C | CA427808132 | TMEM127 | c.459C>G (p.Leu153=) c.207C>G (p.Leu69=) c.-460C>G (n.-460C>G) | |
2 | g.96254066G= | CA1272522143 | TMEM127 | c.459C= (p.Leu153=) c.207C= (p.Leu69=) c.-460C= (n.-460C=) | |
2 | g.96254066G>T | CA427808133 | TMEM127 | c.459C>A (p.Leu153=) c.207C>A (p.Leu69=) c.-460C>A (n.-460C>A) | |
2 | g.96254067A>C | CA347652943 | TMEM127 | c.458T>G (p.Leu153Arg) c.206T>G (p.Leu69Arg) c.-461T>G (n.-461T>G) | |
2 | g.96254067A>G | CA347652945 | TMEM127 | c.458T>C (p.Leu153Pro) c.206T>C (p.Leu69Pro) c.-461T>C (n.-461T>C) | |
2 | g.96254067A>T | CA347652946 | TMEM127 | c.458T>A (p.Leu153His) c.206T>A (p.Leu69His) c.-461T>A (n.-461T>A) | |
2 | g.96254068G>A | CA347652950 | TMEM127 | c.457C>T (p.Leu153Phe) c.205C>T (p.Leu69Phe) c.-462C>T (n.-462C>T) | |
2 | g.96254068G>C | CA347652952 | TMEM127 | c.457C>G (p.Leu153Val) c.205C>G (p.Leu69Val) c.-462C>G (n.-462C>G) | |
2 | g.96254068G>T | CA347652955 | TMEM127 | c.457C>A (p.Leu153Ile) c.205C>A (p.Leu69Ile) c.-462C>A (n.-462C>A) | |
2 | g.96254069T>A | CA347652960 | TMEM127 | c.456A>T (p.Glu152Asp) c.204A>T (p.Glu68Asp) c.-463A>T (n.-463A>T) | |
2 | g.96254069T>C | CA427808145 | TMEM127 | c.456A>G (p.Glu152=) c.204A>G (p.Glu68=) c.-463A>G (n.-463A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254069T>G | CA347652958 | TMEM127 | c.456A>C (p.Glu152Asp) c.204A>C (p.Glu68Asp) c.-463A>C (n.-463A>C) | |
2 | g.96254069T= | CA1272522144 | TMEM127 | c.456A= (p.Glu152=) c.204A= (p.Glu68=) c.-463A= (n.-463A=) | |
2 | g.96254070T>A | CA347652963 | TMEM127 | c.455A>T (p.Glu152Val) c.203A>T (p.Glu68Val) c.-464A>T (n.-464A>T) | |
2 | g.96254070T>C | CA347652965 | TMEM127 | c.455A>G (p.Glu152Gly) c.203A>G (p.Glu68Gly) c.-464A>G (n.-464A>G) | |
2 | g.96254070T>G | CA347652967 | TMEM127 | c.455A>C (p.Glu152Ala) c.203A>C (p.Glu68Ala) c.-464A>C (n.-464A>C) | |
2 | g.96254071C>A | CA347652970 | TMEM127 | c.454G>T (p.Glu152Ter) c.202G>T (p.Glu68Ter) c.-465G>T (n.-465G>T) | |
2 | g.96254071C= | CA1272522145 | TMEM127 | c.454G= (p.Glu152=) c.202G= (p.Glu68=) c.-465G= (n.-465G=) | |
2 | g.96254071C>G | CA347652971 | TMEM127 | c.454G>C (p.Glu152Gln) c.202G>C (p.Glu68Gln) c.-465G>C (n.-465G>C) | dbSNP |
2 | g.96254071C>T | CA347652974 | TMEM127 | c.454G>A (p.Glu152Lys) c.202G>A (p.Glu68Lys) c.-465G>A (n.-465G>A) | |
2 | g.96254072A>C | CA427808153 | TMEM127 | c.453T>G (p.Ser151=) c.201T>G (p.Ser67=) c.-466T>G (n.-466T>G) | |
2 | g.96254072A>G | CA427808155 | TMEM127 | c.453T>C (p.Ser151=) c.201T>C (p.Ser67=) c.-466T>C (n.-466T>C) | ClinVar |
2 | g.96254072A>T | CA427808156 | TMEM127 | c.453T>A (p.Ser151=) c.201T>A (p.Ser67=) c.-466T>A (n.-466T>A) | |
2 | g.96254073G>A | CA347652981 | TMEM127 | c.452C>T (p.Ser151Phe) c.200C>T (p.Ser67Phe) c.-467C>T (n.-467C>T) | dbSNP gnomAD v4 |
2 | g.96254073G>C | CA347652976 | TMEM127 | c.452C>G (p.Ser151Cys) c.200C>G (p.Ser67Cys) c.-467C>G (n.-467C>G) | dbSNP gnomAD v4 COSMIC |
2 | g.96254073G= | CA1272522146 | TMEM127 | c.452C= (p.Ser151=) c.200C= (p.Ser67=) c.-467C= (n.-467C=) | |
2 | g.96254073G>T | CA347652978 | TMEM127 | c.452C>A (p.Ser151Tyr) c.200C>A (p.Ser67Tyr) c.-467C>A (n.-467C>A) | |
2 | g.96254074A= | CA1272522147 | TMEM127 | c.451T= (p.Ser151=) c.199T= (p.Ser67=) c.-468T= (n.-468T=) | |
2 | g.96254074A>C | CA347652983 | TMEM127 | c.451T>G (p.Ser151Ala) c.199T>G (p.Ser67Ala) c.-468T>G (n.-468T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254074A>G | CA52412161 | TMEM127 | c.451T>C (p.Ser151Pro) c.199T>C (p.Ser67Pro) c.-468T>C (n.-468T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254074A>T | CA347652987 | TMEM127 | c.451T>A (p.Ser151Thr) c.199T>A (p.Ser67Thr) c.-468T>A (n.-468T>A) | |
2 | g.96254075A>C | CA427808159 | TMEM127 | c.450T>G (p.Ala150=) c.198T>G (p.Ala66=) c.-469T>G (n.-469T>G) | ClinVar dbSNP |
2 | g.96254075A>G | CA427808160 | TMEM127 | c.450T>C (p.Ala150=) c.198T>C (p.Ala66=) c.-469T>C (n.-469T>C) | |
2 | g.96254075A>T | CA427808161 | TMEM127 | c.450T>A (p.Ala150=) c.198T>A (p.Ala66=) c.-469T>A (n.-469T>A) | |
2 | g.96254076G>A | CA347652990 | TMEM127 | c.449C>T (p.Ala150Val) c.197C>T (p.Ala66Val) c.-470C>T (n.-470C>T) | ClinVar gnomAD v4 |
2 | g.96254076G>C | CA347652993 | TMEM127 | c.449C>G (p.Ala150Gly) c.197C>G (p.Ala66Gly) c.-470C>G (n.-470C>G) | |
2 | g.96254076G>T | CA347652995 | TMEM127 | c.449C>A (p.Ala150Asp) c.197C>A (p.Ala66Asp) c.-470C>A (n.-470C>A) | ClinVar |
2 | g.96254077C>A | CA347652998 | TMEM127 | c.448G>T (p.Ala150Ser) c.196G>T (p.Ala66Ser) c.-471G>T (n.-471G>T) | |
2 | g.96254077C= | CA1272522148 | TMEM127 | c.448G= (p.Ala150=) c.196G= (p.Ala66=) c.-471G= (n.-471G=) | |
2 | g.96254077C>G | CA347653000 | TMEM127 | c.448G>C (p.Ala150Pro) c.196G>C (p.Ala66Pro) c.-471G>C (n.-471G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96254077C>T | CA347653001 | TMEM127 | c.448G>A (p.Ala150Thr) c.196G>A (p.Ala66Thr) c.-471G>A (n.-471G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.96254078C>A | CA347653003 | TMEM127 | c.447G>T (p.Trp149Cys) c.195G>T (p.Trp65Cys) c.-472G>T (n.-472G>T) | |
2 | g.96254078C= | CA1272522149 | TMEM127 | c.447G= (p.Trp149=) c.195G= (p.Trp65=) c.-472G= (n.-472G=) | |
2 | g.96254078C>G | CA347653006 | TMEM127 | c.447G>C (p.Trp149Cys) c.195G>C (p.Trp65Cys) c.-472G>C (n.-472G>C) | |
2 | g.96254078C>T | CA269760 | TMEM127 | c.447G>A (p.Trp149Ter) c.195G>A (p.Trp65Ter) c.-472G>A (n.-472G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254079C>A | CA347653017 | TMEM127 | c.446G>T (p.Trp149Leu) c.194G>T (p.Trp65Leu) c.-473G>T (n.-473G>T) | COSMIC |
2 | g.96254079C>G | CA347653021 | TMEM127 | c.446G>C (p.Trp149Ser) c.194G>C (p.Trp65Ser) c.-473G>C (n.-473G>C) | ClinVar |
2 | g.96254079C>T | CA347653019 | TMEM127 | c.446G>A (p.Trp149Ter) c.194G>A (p.Trp65Ter) c.-473G>A (n.-473G>A) | |
2 | g.96254080A>C | CA347653025 | TMEM127 | c.445T>G (p.Trp149Gly) c.193T>G (p.Trp65Gly) c.-474T>G (n.-474T>G) | |
2 | g.96254080A>G | CA347653028 | TMEM127 | c.445T>C (p.Trp149Arg) c.193T>C (p.Trp65Arg) c.-474T>C (n.-474T>C) | COSMIC |
2 | g.96254080A>T | CA347653033 | TMEM127 | c.445T>A (p.Trp149Arg) c.193T>A (p.Trp65Arg) c.-474T>A (n.-474T>A) | |
2 | g.96254081dup | CA2602344478 | TMEM127 | c.445dup (p.Trp149LeufsTer4) c.193dup (p.Trp65LeufsTer4) c.-474dup (n.-474dup) | gnomAD v3 gnomAD v4 |
2 | g.96254082_96254084del | CA2586964989 | TMEM127 | c.443_445del (p.Tyr148del) c.191_193del (p.Tyr64del) c.-476_-474del (n.-476_-474del) | |
2 | g.96254081A= | CA1272522150 | TMEM127 | c.444T= (p.Tyr148=) c.192T= (p.Tyr64=) c.-475T= (n.-475T=) | |
2 | g.96254081A>C | CA347653035 | TMEM127 | c.444T>G (p.Tyr148Ter) c.192T>G (p.Tyr64Ter) c.-475T>G (n.-475T>G) | |
2 | g.96254081A>G | CA1777301 | TMEM127 | c.444T>C (p.Tyr148=) c.192T>C (p.Tyr64=) c.-475T>C (n.-475T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254081A>T | CA347653043 | TMEM127 | c.444T>A (p.Tyr148Ter) c.192T>A (p.Tyr64Ter) c.-475T>A (n.-475T>A) | gnomAD v4 |
2 | g.96254082T>A | CA347653048 | TMEM127 | c.443A>T (p.Tyr148Phe) c.191A>T (p.Tyr64Phe) c.-476A>T (n.-476A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254082T>C | CA347653050 | TMEM127 | c.443A>G (p.Tyr148Cys) c.191A>G (p.Tyr64Cys) c.-476A>G (n.-476A>G) | |
2 | g.96254082T>G | CA347653051 | TMEM127 | c.443A>C (p.Tyr148Ser) c.191A>C (p.Tyr64Ser) c.-476A>C (n.-476A>C) | |
2 | g.96254082T= | CA1272522151 | TMEM127 | c.443A= (p.Tyr148=) c.191A= (p.Tyr64=) c.-476A= (n.-476A=) | |
2 | g.96254083A>C | CA347653054 | TMEM127 | c.442T>G (p.Tyr148Asp) c.190T>G (p.Tyr64Asp) c.-477T>G (n.-477T>G) | |
2 | g.96254083A>G | CA347653056 | TMEM127 | c.442T>C (p.Tyr148His) c.190T>C (p.Tyr64His) c.-477T>C (n.-477T>C) | |
2 | g.96254083A>T | CA347653057 | TMEM127 | c.442T>A (p.Tyr148Asn) c.190T>A (p.Tyr64Asn) c.-477T>A (n.-477T>A) | |
2 | g.96254085_96254087del | CA2586964990 | TMEM127 | c.440_442del (p.Ser147del) c.188_190del (p.Ser63del) c.-479_-477del (n.-479_-477del) | ClinVar |
2 | g.96254086_96254090del | CA2697550983 | TMEM127 | c.438_442del (p.Phe146LeufsTer5) c.186_190del (p.Phe62LeufsTer5) c.-481_-477del (n.-481_-477del) | ClinVar |
2 | g.96254084A>C | CA427807377 | TMEM127 | c.441T>G (p.Ser147=) c.189T>G (p.Ser63=) c.-478T>G (n.-478T>G) | |
2 | g.96254084A>G | CA427807376 | TMEM127 | c.441T>C (p.Ser147=) c.189T>C (p.Ser63=) c.-478T>C (n.-478T>C) | |
2 | g.96254084A>T | CA427807375 | TMEM127 | c.441T>A (p.Ser147=) c.189T>A (p.Ser63=) c.-478T>A (n.-478T>A) | |
2 | g.96254085G>A | CA347653065 | TMEM127 | c.440C>T (p.Ser147Phe) c.188C>T (p.Ser63Phe) c.-479C>T (n.-479C>T) | |
2 | g.96254085G>C | CA347653061 | TMEM127 | c.440C>G (p.Ser147Cys) c.188C>G (p.Ser63Cys) c.-479C>G (n.-479C>G) | |
2 | g.96254085G>T | CA347653062 | TMEM127 | c.440C>A (p.Ser147Tyr) c.188C>A (p.Ser63Tyr) c.-479C>A (n.-479C>A) | |
2 | g.96254086A>C | CA347653068 | TMEM127 | c.439T>G (p.Ser147Ala) c.187T>G (p.Ser63Ala) c.-480T>G (n.-480T>G) | |
2 | g.96254086A>G | CA347653070 | TMEM127 | c.439T>C (p.Ser147Pro) c.187T>C (p.Ser63Pro) c.-480T>C (n.-480T>C) | |
2 | g.96254086A>T | CA347653073 | TMEM127 | c.439T>A (p.Ser147Thr) c.187T>A (p.Ser63Thr) c.-480T>A (n.-480T>A) | |
2 | g.96254087A= | CA1272522152 | TMEM127 | c.438T= (p.Phe146=) c.186T= (p.Phe62=) c.-481T= (n.-481T=) | |
2 | g.96254087A>C | CA347653078 | TMEM127 | c.438T>G (p.Phe146Leu) c.186T>G (p.Phe62Leu) c.-481T>G (n.-481T>G) | |
2 | g.96254087A>G | CA1777302 | TMEM127 | c.438T>C (p.Phe146=) c.186T>C (p.Phe62=) c.-481T>C (n.-481T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254087A>T | CA347653080 | TMEM127 | c.438T>A (p.Phe146Leu) c.186T>A (p.Phe62Leu) c.-481T>A (n.-481T>A) | |
2 | g.96254088A>C | CA347653081 | TMEM127 | c.437T>G (p.Phe146Cys) c.185T>G (p.Phe62Cys) c.-482T>G (n.-482T>G) | |
2 | g.96254088A>G | CA347653082 | TMEM127 | c.437T>C (p.Phe146Ser) c.185T>C (p.Phe62Ser) c.-482T>C (n.-482T>C) | gnomAD v4 |
2 | g.96254088A>T | CA347653083 | TMEM127 | c.437T>A (p.Phe146Tyr) c.185T>A (p.Phe62Tyr) c.-482T>A (n.-482T>A) | |
2 | g.96254089A>C | CA347653084 | TMEM127 | c.436T>G (p.Phe146Val) c.184T>G (p.Phe62Val) c.-483T>G (n.-483T>G) | |
2 | g.96254089A>G | CA347653085 | TMEM127 | c.436T>C (p.Phe146Leu) c.184T>C (p.Phe62Leu) c.-483T>C (n.-483T>C) | |
2 | g.96254089A>T | CA347653088 | TMEM127 | c.436T>A (p.Phe146Ile) c.184T>A (p.Phe62Ile) c.-483T>A (n.-483T>A) | |
2 | g.96254090G>A | CA427807384 | TMEM127 | c.435C>T (p.Gly145=) c.183C>T (p.Gly61=) c.-484C>T (n.-484C>T) | |
2 | g.96254090G>C | CA1777303 | TMEM127 | c.435C>G (p.Gly145=) c.183C>G (p.Gly61=) c.-484C>G (n.-484C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254090G= | CA1272522153 | TMEM127 | c.435C= (p.Gly145=) c.183C= (p.Gly61=) c.-484C= (n.-484C=) | |
2 | g.96254090G>T | CA427807385 | TMEM127 | c.435C>A (p.Gly145=) c.183C>A (p.Gly61=) c.-484C>A (n.-484C>A) | |
2 | g.96254091C>A | CA347653095 | TMEM127 | c.434G>T (p.Gly145Val) c.182G>T (p.Gly61Val) c.-485G>T (n.-485G>T) | dbSNP |
2 | g.96254091C>G | CA347653092 | TMEM127 | c.434G>C (p.Gly145Ala) c.182G>C (p.Gly61Ala) c.-485G>C (n.-485G>C) | ClinVar |
2 | g.96254091C>T | CA347653097 | TMEM127 | c.434G>A (p.Gly145Asp) c.182G>A (p.Gly61Asp) c.-485G>A (n.-485G>A) | dbSNP |
2 | g.96254092dup | CA2842763322 | TMEM127 | c.434dup (p.Phe146LeufsTer7) c.182dup (p.Phe62LeufsTer7) c.-485dup (n.-485dup) |