Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1399145_1399147delinsGGT | CA2317699114 | GAMT | c.440_442delinsACC (p.His147=) c.123_125delinsACC n.273_275delinsACC c.371_373delinsACC (p.His124=) c.125_127delinsACC (p.His42=) | |
19 | g.1399153_1399154dup | CA2580612585 | GAMT | c.440_441dup (p.Gln148ThrfsTer14) c.123_124dup n.273_274dup c.371_372dup (p.Gln125ThrfsTer14) c.125_126dup (p.Gln43ThrfsTer14) | ClinVar dbSNP |
19 | g.1399153_1399154del | CA631044734 | GAMT | c.440_441del (p.His147ProfsTer?) c.123_124del n.273_274del c.371_372del (p.His124ProfsTer?) c.125_126del (p.His42ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399147T>A | CA402995068 | GAMT | c.440A>T (p.His147Leu) c.123A>T n.273A>T c.371A>T (p.His124Leu) c.125A>T (p.His42Leu) | |
19 | g.1399147T>C | CA402995069 | GAMT | c.440A>G (p.His147Arg) c.123A>G n.273A>G c.371A>G (p.His124Arg) c.125A>G (p.His42Arg) | gnomAD v4 |
19 | g.1399147T>G | CA402995070 | GAMT | c.440A>C (p.His147Pro) c.123A>C n.273A>C c.371A>C (p.His124Pro) c.125A>C (p.His42Pro) | |
19 | g.1399148G>A | CA402995088 | GAMT | c.439C>T (p.His147Tyr) c.122C>T n.272C>T c.370C>T (p.His124Tyr) c.124C>T (p.His42Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399148G>C | CA402995087 | GAMT | c.439C>G (p.His147Asp) c.122C>G n.272C>G c.370C>G (p.His124Asp) c.124C>G (p.His42Asp) | |
19 | g.1399148G= | CA2317699116 | GAMT | c.439C= (p.His147=) c.122C= n.272C= c.370C= (p.His124=) c.124C= (p.His42=) | |
19 | g.1399148G>T | CA402995075 | GAMT | c.439C>A (p.His147Asn) c.122C>A n.272C>A c.370C>A (p.His124Asn) c.124C>A (p.His42Asn) | |
19 | g.1399148_1399149delinsGT | CA2317699117 | GAMT | c.438_439delinsAC (p.Thr146=) c.121_122delinsAC n.271_272delinsAC c.369_370delinsAC (p.Thr123=) c.123_124delinsAC (p.Thr41=) | |
19 | g.1399149del | CA2317699118 | GAMT | c.438del (p.His147ThrfsTer14) c.121del n.271del c.369del (p.His124ThrfsTer14) c.123del (p.His42ThrfsTer14) | dbSNP |
19 | g.1399149T>A | CA504730083 | GAMT | c.438A>T (p.Thr146=) c.121A>T n.271A>T c.369A>T (p.Thr123=) c.123A>T (p.Thr41=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399149T>C | CA341572 | GAMT | c.438A>G (p.Thr146=) c.121A>G n.271A>G c.369A>G (p.Thr123=) c.123A>G (p.Thr41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399149T>G | CA504730084 | GAMT | c.438A>C (p.Thr146=) c.121A>C n.271A>C c.369A>C (p.Thr123=) c.123A>C (p.Thr41=) | |
19 | g.1399149T= | CA2317699119 | GAMT | c.438A= (p.Thr146=) c.121A= n.271A= c.369A= (p.Thr123=) c.123A= (p.Thr41=) | |
19 | g.1399150G>A | CA402995100 | GAMT | c.437C>T (p.Thr146Ile) c.120C>T n.270C>T c.368C>T (p.Thr123Ile) c.122C>T (p.Thr41Ile) | |
19 | g.1399150G>C | CA9043661 | GAMT | c.437C>G (p.Thr146Arg) c.120C>G n.270C>G c.368C>G (p.Thr123Arg) c.122C>G (p.Thr41Arg) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.1399150G= | CA2317699120 | GAMT | c.437C= (p.Thr146=) c.120C= n.270C= c.368C= (p.Thr123=) c.122C= (p.Thr41=) | |
19 | g.1399150G>T | CA402995104 | GAMT | c.437C>A (p.Thr146Lys) c.120C>A n.270C>A c.368C>A (p.Thr123Lys) c.122C>A (p.Thr41Lys) | |
19 | g.1399151T>A | CA402995105 | GAMT | c.436A>T (p.Thr146Ser) c.119A>T n.269A>T c.367A>T (p.Thr123Ser) c.121A>T (p.Thr41Ser) | |
19 | g.1399151T>C | CA402995108 | GAMT | c.436A>G (p.Thr146Ala) c.119A>G n.269A>G c.367A>G (p.Thr123Ala) c.121A>G (p.Thr41Ala) | |
19 | g.1399151T>G | CA402995114 | GAMT | c.436A>C (p.Thr146Pro) c.119A>C n.269A>C c.367A>C (p.Thr123Pro) c.121A>C (p.Thr41Pro) | |
19 | g.1399152G>A | CA504730088 | GAMT | c.435C>T (p.His145=) c.118C>T n.268C>T c.366C>T (p.His122=) c.120C>T (p.His40=) | gnomAD v4 |
19 | g.1399152G>C | CA402995115 | GAMT | c.435C>G (p.His145Gln) c.118C>G n.268C>G c.366C>G (p.His122Gln) c.120C>G (p.His40Gln) | ClinVar dbSNP |
19 | g.1399152G>T | CA402995116 | GAMT | c.435C>A (p.His145Gln) c.118C>A n.268C>A c.366C>A (p.His122Gln) c.120C>A (p.His40Gln) | |
19 | g.1399153T>A | CA402995119 | GAMT | c.434A>T (p.His145Leu) c.117A>T n.267A>T c.365A>T (p.His122Leu) c.119A>T (p.His40Leu) | |
19 | g.1399153T>C | CA402995123 | GAMT | c.434A>G (p.His145Arg) c.117A>G n.267A>G c.365A>G (p.His122Arg) c.119A>G (p.His40Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399153T>G | CA402995127 | GAMT | c.434A>C (p.His145Pro) c.117A>C n.267A>C c.365A>C (p.His122Pro) c.119A>C (p.His40Pro) | |
19 | g.1399153T= | CA2317699121 | GAMT | c.434A= (p.His145=) c.117A= n.267A= c.365A= (p.His122=) c.119A= (p.His40=) | |
19 | g.1399154G>A | CA402995134 | GAMT | c.433C>T (p.His145Tyr) c.116C>T n.266C>T c.364C>T (p.His122Tyr) c.118C>T (p.His40Tyr) | gnomAD v4 |
19 | g.1399154G>C | CA402995140 | GAMT | c.433C>G (p.His145Asp) c.116C>G n.266C>G c.364C>G (p.His122Asp) c.118C>G (p.His40Asp) | |
19 | g.1399154G>T | CA402995129 | GAMT | c.433C>A (p.His145Asn) c.116C>A n.266C>A c.364C>A (p.His122Asn) c.118C>A (p.His40Asn) | |
19 | g.1399154_1399155dup | CA2573155792 | GAMT | c.432_433dup (p.His145ArgfsTer17) c.115_116dup n.265_266dup c.363_364dup (p.His122ArgfsTer17) c.117_118dup (p.His40ArgfsTer17) | ClinVar dbSNP |
19 | g.1399155C>A | CA402995143 | GAMT | c.432G>T (p.Trp144Cys) c.115G>T n.265G>T c.363G>T (p.Trp121Cys) c.117G>T (p.Trp39Cys) | |
19 | g.1399155C= | CA2317699122 | GAMT | c.432G= (p.Trp144=) c.115G= n.265G= c.363G= (p.Trp121=) c.117G= (p.Trp39=) | |
19 | g.1399155C>G | CA402995148 | GAMT | c.432G>C (p.Trp144Cys) c.115G>C n.265G>C c.363G>C (p.Trp121Cys) c.117G>C (p.Trp39Cys) | |
19 | g.1399155C>T | CA402995151 | GAMT | c.432G>A (p.Trp144Ter) c.115G>A n.265G>A c.363G>A (p.Trp121Ter) c.117G>A (p.Trp39Ter) | ClinVar dbSNP |
19 | g.1399156C>A | CA402995155 | GAMT | c.431G>T (p.Trp144Leu) c.114G>T n.264G>T c.362G>T (p.Trp121Leu) c.116G>T (p.Trp39Leu) | |
19 | g.1399156C>G | CA402995157 | GAMT | c.431G>C (p.Trp144Ser) c.114G>C n.264G>C c.362G>C (p.Trp121Ser) c.116G>C (p.Trp39Ser) | |
19 | g.1399156C>T | CA402995158 | GAMT | c.431G>A (p.Trp144Ter) c.114G>A n.264G>A c.362G>A (p.Trp121Ter) c.116G>A (p.Trp39Ter) | gnomAD v4 |
19 | g.1399156_1399159delinsCAGG | CA2317699123 | GAMT | c.428_431delinsCCTG (p.Thr143=) c.111_114delinsCCTG n.261_264delinsCCTG c.359_362delinsCCTG (p.Thr120=) c.113_116delinsCCTG (p.Thr38=) | |
19 | g.1399157A>C | CA402995159 | GAMT | c.430T>G (p.Trp144Gly) c.113T>G n.263T>G c.361T>G (p.Trp121Gly) c.115T>G (p.Trp39Gly) | |
19 | g.1399157A>G | CA402995161 | GAMT | c.430T>C (p.Trp144Arg) c.113T>C n.263T>C c.361T>C (p.Trp121Arg) c.115T>C (p.Trp39Arg) | |
19 | g.1399157A>T | CA402995169 | GAMT | c.430T>A (p.Trp144Arg) c.113T>A n.263T>A c.361T>A (p.Trp121Arg) c.115T>A (p.Trp39Arg) | |
19 | g.1399157_1399159del | CA783446235 | GAMT | c.428_430del (p.Thr143_Trp144delinsArg) c.111_113del n.261_263del c.359_361del (p.Thr120_Trp121delinsArg) c.113_115del (p.Thr38_Trp39delinsArg) | dbSNP |
19 | g.1399158G>A | CA504730092 | GAMT | c.429C>T (p.Thr143=) c.112C>T n.262C>T c.360C>T (p.Thr120=) c.114C>T (p.Thr38=) | ClinVar dbSNP |
19 | g.1399158G>C | CA9043662 | GAMT | c.429C>G (p.Thr143=) c.112C>G n.262C>G c.360C>G (p.Thr120=) c.114C>G (p.Thr38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399158G= | CA2317699124 | GAMT | c.429C= (p.Thr143=) c.112C= n.262C= c.360C= (p.Thr120=) c.114C= (p.Thr38=) | |
19 | g.1399158G>T | CA504730093 | GAMT | c.429C>A (p.Thr143=) c.112C>A n.262C>A c.360C>A (p.Thr120=) c.114C>A (p.Thr38=) | |
19 | g.1399159G>A | CA9043663 | GAMT | c.428C>T (p.Thr143Ile) c.111C>T n.261C>T c.359C>T (p.Thr120Ile) c.113C>T (p.Thr38Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399159G>C | CA402995182 | GAMT | c.428C>G (p.Thr143Ser) c.111C>G n.261C>G c.359C>G (p.Thr120Ser) c.113C>G (p.Thr38Ser) | gnomAD v4 |
19 | g.1399159G= | CA2317699125 | GAMT | c.428C= (p.Thr143=) c.111C= n.261C= c.359C= (p.Thr120=) c.113C= (p.Thr38=) | |
19 | g.1399159G>T | CA402995185 | GAMT | c.428C>A (p.Thr143Asn) c.111C>A n.261C>A c.359C>A (p.Thr120Asn) c.113C>A (p.Thr38Asn) | |
19 | g.1399160T>A | CA402995197 | GAMT | c.427A>T (p.Thr143Ser) c.110A>T n.260A>T c.358A>T (p.Thr120Ser) c.112A>T (p.Thr38Ser) | ClinVar gnomAD v4 |
19 | g.1399160T>C | CA402995194 | GAMT | c.427A>G (p.Thr143Ala) c.110A>G n.260A>G c.358A>G (p.Thr120Ala) c.112A>G (p.Thr38Ala) | |
19 | g.1399160T>G | CA402995190 | GAMT | c.427A>C (p.Thr143Pro) c.110A>C n.260A>C c.358A>C (p.Thr120Pro) c.112A>C (p.Thr38Pro) | |
19 | g.1399160T= | CA2317699126 | GAMT | c.427A= (p.Thr143=) c.110A= n.260A= c.358A= (p.Thr120=) c.112A= (p.Thr38=) | |
19 | g.1399160_1399163delinsTCTC | CA2317699127 | GAMT | c.424_427delinsGAGA (p.Glu142=) c.107_110delinsGAGA n.257_260delinsGAGA c.355_358delinsGAGA (p.Glu119=) c.109_112delinsGAGA (p.Glu37=) | |
19 | g.1399161C>A | CA402995202 | GAMT | c.426G>T (p.Glu142Asp) c.109G>T n.259G>T c.357G>T (p.Glu119Asp) c.111G>T (p.Glu37Asp) | |
19 | g.1399161C= | CA2317699128 | GAMT | c.426G= (p.Glu142=) c.109G= n.259G= c.357G= (p.Glu119=) c.111G= (p.Glu37=) | |
19 | g.1399161C>G | CA402995207 | GAMT | c.426G>C (p.Glu142Asp) c.109G>C n.259G>C c.357G>C (p.Glu119Asp) c.111G>C (p.Glu37Asp) | |
19 | g.1399161C>T | CA9043664 | GAMT | c.426G>A (p.Glu142=) c.109G>A n.259G>A c.357G>A (p.Glu119=) c.111G>A (p.Glu37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399161_1399162insCACACAC | CA783446248 | GAMT | c.426_427insTGTGTGG (p.Thr143CysfsTer?) c.109_110insTGTGTGG n.259_260insTGTGTGG c.357_358insTGTGTGG (p.Thr120CysfsTer?) c.111_112insTGTGTGG (p.Thr38CysfsTer?) | dbSNP |
19 | g.1399165_1399167del | CA992513703 | GAMT | c.424_426del (p.Glu142del) c.107_109del n.257_259del c.355_357del (p.Glu119del) c.109_111del (p.Glu37del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399162T>A | CA402995214 | GAMT | c.425A>T (p.Glu142Val) c.108A>T n.258A>T c.356A>T (p.Glu119Val) c.110A>T (p.Glu37Val) | |
19 | g.1399162T>C | CA402995218 | GAMT | c.425A>G (p.Glu142Gly) c.108A>G n.258A>G c.356A>G (p.Glu119Gly) c.110A>G (p.Glu37Gly) | |
19 | g.1399162T>G | CA402995221 | GAMT | c.425A>C (p.Glu142Ala) c.108A>C n.258A>C c.356A>C (p.Glu119Ala) c.110A>C (p.Glu37Ala) | |
19 | g.1399163C>A | CA402995225 | GAMT | c.424G>T (p.Glu142Ter) c.107G>T n.257G>T c.355G>T (p.Glu119Ter) c.109G>T (p.Glu37Ter) | |
19 | g.1399163C>G | CA402995226 | GAMT | c.424G>C (p.Glu142Gln) c.107G>C n.257G>C c.355G>C (p.Glu119Gln) c.109G>C (p.Glu37Gln) | |
19 | g.1399163C>T | CA402995227 | GAMT | c.424G>A (p.Glu142Lys) c.107G>A n.257G>A c.355G>A (p.Glu119Lys) c.109G>A (p.Glu37Lys) | |
19 | g.1399164C>A | CA402995228 | GAMT | c.423G>T (p.Glu141Asp) c.106G>T n.256G>T c.354G>T (p.Glu118Asp) c.108G>T (p.Glu36Asp) | |
19 | g.1399164C>G | CA402995230 | GAMT | c.423G>C (p.Glu141Asp) c.106G>C n.256G>C c.354G>C (p.Glu118Asp) c.108G>C (p.Glu36Asp) | gnomAD v4 |
19 | g.1399164C>T | CA504730099 | GAMT | c.423G>A (p.Glu141=) c.106G>A n.256G>A c.354G>A (p.Glu118=) c.108G>A (p.Glu36=) | |
19 | g.1399165T>A | CA402995238 | GAMT | c.422A>T (p.Glu141Val) c.105A>T n.255A>T c.353A>T (p.Glu118Val) c.107A>T (p.Glu36Val) | |
19 | g.1399165T>C | CA402995240 | GAMT | c.422A>G (p.Glu141Gly) c.105A>G n.255A>G c.353A>G (p.Glu118Gly) c.107A>G (p.Glu36Gly) | |
19 | g.1399165T>G | CA402995241 | GAMT | c.422A>C (p.Glu141Ala) c.105A>C n.255A>C c.353A>C (p.Glu118Ala) c.107A>C (p.Glu36Ala) | |
19 | g.1399166C>A | CA402995249 | GAMT | c.421G>T (p.Glu141Ter) c.104G>T n.254G>T c.352G>T (p.Glu118Ter) c.106G>T (p.Glu36Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399166C= | CA2317699129 | GAMT | c.421G= (p.Glu141=) c.104G= n.254G= c.352G= (p.Glu118=) c.106G= (p.Glu36=) | |
19 | g.1399166C>G | CA402995260 | GAMT | c.421G>C (p.Glu141Gln) c.104G>C n.254G>C c.352G>C (p.Glu118Gln) c.106G>C (p.Glu36Gln) | |
19 | g.1399166C>T | CA402995245 | GAMT | c.421G>A (p.Glu141Lys) c.104G>A n.254G>A c.352G>A (p.Glu118Lys) c.106G>A (p.Glu36Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399167C>A | CA504730101 | GAMT | c.420G>T (p.Ser140=) c.103G>T n.253G>T c.351G>T (p.Ser117=) c.105G>T (p.Ser35=) | |
19 | g.1399167C= | CA2317699130 | GAMT | c.420G= (p.Ser140=) c.103G= n.253G= c.351G= (p.Ser117=) c.105G= (p.Ser35=) | |
19 | g.1399167C>G | CA504730102 | GAMT | c.420G>C (p.Ser140=) c.103G>C n.253G>C c.351G>C (p.Ser117=) c.105G>C (p.Ser35=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399167C>T | CA9043665 | GAMT | c.420G>A (p.Ser140=) c.103G>A n.253G>A c.351G>A (p.Ser117=) c.105G>A (p.Ser35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399168G>A | CA9043666 | GAMT | c.419C>T (p.Ser140Leu) c.102C>T n.252C>T c.350C>T (p.Ser117Leu) c.104C>T (p.Ser35Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399168G>C | CA402995271 | GAMT | c.419C>G (p.Ser140Trp) c.102C>G n.252C>G c.350C>G (p.Ser117Trp) c.104C>G (p.Ser35Trp) | |
19 | g.1399168G= | CA2317699131 | GAMT | c.419C= (p.Ser140=) c.102C= n.252C= c.350C= (p.Ser117=) c.104C= (p.Ser35=) | |
19 | g.1399168G>T | CA402995274 | GAMT | c.419C>A (p.Ser140Ter) c.102C>A n.252C>A c.350C>A (p.Ser117Ter) c.104C>A (p.Ser35Ter) | ClinVar dbSNP |
19 | g.1399171_1399172del | CA2695223152 | GAMT | c.418_419del (p.Ser140GlyfsTer?) c.101_102del n.251_252del c.349_350del (p.Ser117GlyfsTer?) c.103_104del (p.Ser35GlyfsTer?) | |
19 | g.1399169A= | CA2317699132 | GAMT | c.418T= (p.Ser140=) c.101T= n.251T= c.349T= (p.Ser117=) c.103T= (p.Ser35=) | |
19 | g.1399169A>C | CA402995278 | GAMT | c.418T>G (p.Ser140Ala) c.101T>G n.251T>G c.349T>G (p.Ser117Ala) c.103T>G (p.Ser35Ala) | |
19 | g.1399169A>G | CA402995280 | GAMT | c.418T>C (p.Ser140Pro) c.101T>C n.251T>C c.349T>C (p.Ser117Pro) c.103T>C (p.Ser35Pro) | |
19 | g.1399169A>T | CA402995281 | GAMT | c.418T>A (p.Ser140Thr) c.101T>A n.251T>A c.349T>A (p.Ser117Thr) c.103T>A (p.Ser35Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.1399170G>A | CA504730104 | GAMT | c.417C>T (p.Leu139=) c.100C>T n.250C>T c.348C>T (p.Leu116=) c.102C>T (p.Leu34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399170G>C | CA504730106 | GAMT | c.417C>G (p.Leu139=) c.100C>G n.250C>G c.348C>G (p.Leu116=) c.102C>G (p.Leu34=) | |
19 | g.1399170G= | CA2317699133 | GAMT | c.417C= (p.Leu139=) c.100C= n.250C= c.348C= (p.Leu116=) c.102C= (p.Leu34=) | |
19 | g.1399170G>T | CA504730108 | GAMT | c.417C>A (p.Leu139=) c.100C>A n.250C>A c.348C>A (p.Leu116=) c.102C>A (p.Leu34=) | |
19 | g.1399171del | CA645614609 | GAMT | c.416del (p.Leu139ProfsTer22) c.99del n.249del c.347del (p.Leu116ProfsTer22) c.101del (p.Leu34ProfsTer22) | COSMIC COSMIC |
19 | g.1399171A= | CA2317699134 | GAMT | c.416T= (p.Leu139=) c.99T= n.249T= c.347T= (p.Leu116=) c.101T= (p.Leu34=) | |
19 | g.1399171A>C | CA402995284 | GAMT | c.416T>G (p.Leu139Arg) c.99T>G n.249T>G c.347T>G (p.Leu116Arg) c.101T>G (p.Leu34Arg) | |
19 | g.1399171A>G | CA9043667 | GAMT | c.416T>C (p.Leu139Pro) c.99T>C n.249T>C c.347T>C (p.Leu116Pro) c.101T>C (p.Leu34Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399171A>T | CA402995286 | GAMT | c.416T>A (p.Leu139His) c.99T>A n.249T>A c.347T>A (p.Leu116His) c.101T>A (p.Leu34His) | |
19 | g.1399172G>A | CA402995289 | GAMT | c.415C>T (p.Leu139Phe) c.98C>T n.248C>T c.346C>T (p.Leu116Phe) c.100C>T (p.Leu34Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399172G>C | CA402995290 | GAMT | c.415C>G (p.Leu139Val) c.98C>G n.248C>G c.346C>G (p.Leu116Val) c.100C>G (p.Leu34Val) | |
19 | g.1399172G= | CA2317699135 | GAMT | c.415C= (p.Leu139=) c.98C= n.248C= c.346C= (p.Leu116=) c.100C= (p.Leu34=) | |
19 | g.1399172G>T | CA402995292 | GAMT | c.415C>A (p.Leu139Ile) c.98C>A n.248C>A c.346C>A (p.Leu116Ile) c.100C>A (p.Leu34Ile) | |
19 | g.1399173_1399174del | CA2499225403 | GAMT | c.414_415del (p.Ser140GlyfsTer?) c.97_98del n.247_248del c.345_346del (p.Ser117GlyfsTer?) c.99_100del (p.Ser35GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
19 | g.1399173T>A | CA504730112 | GAMT | c.414A>T (p.Pro138=) c.97A>T n.247A>T c.345A>T (p.Pro115=) c.99A>T (p.Pro33=) | |
19 | g.1399173T>C | CA504730113 | GAMT | c.414A>G (p.Pro138=) c.97A>G n.247A>G c.345A>G (p.Pro115=) c.99A>G (p.Pro33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399173T>G | CA504730114 | GAMT | c.414A>C (p.Pro138=) c.97A>C n.247A>C c.345A>C (p.Pro115=) c.99A>C (p.Pro33=) | |
19 | g.1399173T= | CA2317699136 | GAMT | c.414A= (p.Pro138=) c.97A= n.247A= c.345A= (p.Pro115=) c.99A= (p.Pro33=) | |
19 | g.1399174G>A | CA402995300 | GAMT | c.413C>T (p.Pro138Leu) c.96C>T n.246C>T c.344C>T (p.Pro115Leu) c.98C>T (p.Pro33Leu) | gnomAD v4 |
19 | g.1399174G>C | CA402995294 | GAMT | c.413C>G (p.Pro138Arg) c.96C>G n.246C>G c.344C>G (p.Pro115Arg) c.98C>G (p.Pro33Arg) | |
19 | g.1399174G>T | CA402995296 | GAMT | c.413C>A (p.Pro138Gln) c.96C>A n.246C>A c.344C>A (p.Pro115Gln) c.98C>A (p.Pro33Gln) | |
19 | g.1399176del | CA645614610 | GAMT | c.413del (p.Pro138HisfsTer23) c.96del n.246del c.344del (p.Pro115HisfsTer23) c.98del (p.Pro33HisfsTer23) | COSMIC COSMIC |
19 | g.1399175G>A | CA402995302 | GAMT | c.412C>T (p.Pro138Ser) c.95C>T n.245C>T c.343C>T (p.Pro115Ser) c.97C>T (p.Pro33Ser) | gnomAD v4 |
19 | g.1399175G>C | CA402995310 | GAMT | c.412C>G (p.Pro138Ala) c.95C>G n.245C>G c.343C>G (p.Pro115Ala) c.97C>G (p.Pro33Ala) | |
19 | g.1399175G>T | CA402995313 | GAMT | c.412C>A (p.Pro138Thr) c.95C>A n.245C>A c.343C>A (p.Pro115Thr) c.97C>A (p.Pro33Thr) | |
19 | g.1399176G>A | CA504730117 | GAMT | c.411C>T (p.Tyr137=) c.94C>T n.244C>T c.342C>T (p.Tyr114=) c.96C>T (p.Tyr32=) | gnomAD v4 |
19 | g.1399176G>C | CA402995318 | GAMT | c.411C>G (p.Tyr137Ter) c.94C>G n.244C>G c.342C>G (p.Tyr114Ter) c.96C>G (p.Tyr32Ter) | ClinVar |
19 | g.1399176G>T | CA402995321 | GAMT | c.411C>A (p.Tyr137Ter) c.94C>A n.244C>A c.342C>A (p.Tyr114Ter) c.96C>A (p.Tyr32Ter) | |
19 | g.1399177T>A | CA402995327 | GAMT | c.410A>T (p.Tyr137Phe) c.93A>T n.243A>T c.341A>T (p.Tyr114Phe) c.95A>T (p.Tyr32Phe) | |
19 | g.1399177T>C | CA402995329 | GAMT | c.410A>G (p.Tyr137Cys) c.93A>G n.243A>G c.341A>G (p.Tyr114Cys) c.95A>G (p.Tyr32Cys) | |
19 | g.1399177T>G | CA402995333 | GAMT | c.410A>C (p.Tyr137Ser) c.93A>C n.243A>C c.341A>C (p.Tyr114Ser) c.95A>C (p.Tyr32Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399177T= | CA2317699137 | GAMT | c.410A= (p.Tyr137=) c.93A= n.243A= c.341A= (p.Tyr114=) c.95A= (p.Tyr32=) | |
19 | g.1399178del | CA2576548658 | GAMT | c.409del (p.Tyr137ThrfsTer24) c.92del n.242del c.340del (p.Tyr114ThrfsTer24) c.94del (p.Tyr32ThrfsTer24) | |
19 | g.1399178A>C | CA402995338 | GAMT | c.409T>G (p.Tyr137Asp) c.92T>G n.242T>G c.340T>G (p.Tyr114Asp) c.94T>G (p.Tyr32Asp) | |
19 | g.1399178A>G | CA402995340 | GAMT | c.409T>C (p.Tyr137His) c.92T>C n.242T>C c.340T>C (p.Tyr114His) c.94T>C (p.Tyr32His) | |
19 | g.1399178A>T | CA402995343 | GAMT | c.409T>A (p.Tyr137Asn) c.92T>A n.242T>A c.340T>A (p.Tyr114Asn) c.94T>A (p.Tyr32Asn) | |
19 | g.1399179C>A | CA504730120 | GAMT | c.408G>T (p.Thr136=) c.91G>T n.241G>T c.339G>T (p.Thr113=) c.93G>T (p.Thr31=) | gnomAD v4 |
19 | g.1399179C= | CA2317699138 | GAMT | c.408G= (p.Thr136=) c.91G= n.241G= c.339G= (p.Thr113=) c.93G= (p.Thr31=) | |
19 | g.1399179C>G | CA504730122 | GAMT | c.408G>C (p.Thr136=) c.91G>C n.241G>C c.339G>C (p.Thr113=) c.93G>C (p.Thr31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399179C>T | CA9043668 | GAMT | c.408G>A (p.Thr136=) c.91G>A n.241G>A c.339G>A (p.Thr113=) c.93G>A (p.Thr31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399180G>A | CA9043669 | GAMT | c.407C>T (p.Thr136Met) c.90C>T n.240C>T c.338C>T (p.Thr113Met) c.92C>T (p.Thr31Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399180G>C | CA402995357 | GAMT | c.407C>G (p.Thr136Arg) c.90C>G n.240C>G c.338C>G (p.Thr113Arg) c.92C>G (p.Thr31Arg) | dbSNP gnomAD v4 |
19 | g.1399180G= | CA2317699139 | GAMT | c.407C= (p.Thr136=) c.90C= n.240C= c.338C= (p.Thr113=) c.92C= (p.Thr31=) | |
19 | g.1399180G>T | CA9043670 | GAMT | c.407C>A (p.Thr136Lys) c.90C>A n.240C>A c.338C>A (p.Thr113Lys) c.92C>A (p.Thr31Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399181T>A | CA402995360 | GAMT | c.406A>T (p.Thr136Ser) c.89A>T n.239A>T c.337A>T (p.Thr113Ser) c.91A>T (p.Thr31Ser) | |
19 | g.1399181T>C | CA402995369 | GAMT | c.406A>G (p.Thr136Ala) c.89A>G n.239A>G c.337A>G (p.Thr113Ala) c.91A>G (p.Thr31Ala) | gnomAD v4 |
19 | g.1399181T>G | CA402995363 | GAMT | c.406A>C (p.Thr136Pro) c.89A>C n.239A>C c.337A>C (p.Thr113Pro) c.91A>C (p.Thr31Pro) | |
19 | g.1399182G>A | CA504730125 | GAMT | c.405C>T (p.Asp135=) c.88C>T n.238C>T c.336C>T (p.Asp112=) c.90C>T (p.Asp30=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399182G>C | CA402995373 | GAMT | c.405C>G (p.Asp135Glu) c.88C>G n.238C>G c.336C>G (p.Asp112Glu) c.90C>G (p.Asp30Glu) | |
19 | g.1399182G= | CA2317699140 | GAMT | c.405C= (p.Asp135=) c.88C= n.238C= c.336C= (p.Asp112=) c.90C= (p.Asp30=) | |
19 | g.1399182G>T | CA402995375 | GAMT | c.405C>A (p.Asp135Glu) c.88C>A n.238C>A c.336C>A (p.Asp112Glu) c.90C>A (p.Asp30Glu) | COSMIC |
19 | g.1399183T>A | CA402995379 | GAMT | c.404A>T (p.Asp135Val) c.87A>T n.237A>T c.335A>T (p.Asp112Val) c.89A>T (p.Asp30Val) | |
19 | g.1399183T>C | CA402995385 | GAMT | c.404A>G (p.Asp135Gly) c.87A>G n.237A>G c.335A>G (p.Asp112Gly) c.89A>G (p.Asp30Gly) | gnomAD v4 |
19 | g.1399183T>G | CA402995383 | GAMT | c.404A>C (p.Asp135Ala) c.87A>C n.237A>C c.335A>C (p.Asp112Ala) c.89A>C (p.Asp30Ala) | |
19 | g.1399184C>A | CA402995388 | GAMT | c.403G>T (p.Asp135Tyr) c.86G>T n.236G>T c.334G>T (p.Asp112Tyr) c.88G>T (p.Asp30Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399184C= | CA2317699141 | GAMT | c.403G= (p.Asp135=) c.86G= n.236G= c.334G= (p.Asp112=) c.88G= (p.Asp30=) | |
19 | g.1399184C>G | CA402995395 | GAMT | c.403G>C (p.Asp135His) c.86G>C n.236G>C c.334G>C (p.Asp112His) c.88G>C (p.Asp30His) | ClinVar |
19 | g.1399184C>T | CA9043671 | GAMT | c.403G>A (p.Asp135Asn) c.86G>A n.236G>A c.334G>A (p.Asp112Asn) c.88G>A (p.Asp30Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399185G>A | CA9043672 | GAMT | c.402C>T (p.Tyr134=) c.85C>T n.235C>T c.333C>T (p.Tyr111=) c.87C>T (p.Tyr29=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399185G>C | CA9043673 | GAMT | c.402C>G (p.Tyr134Ter) c.85C>G n.235C>G c.333C>G (p.Tyr111Ter) c.87C>G (p.Tyr29Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399185G= | CA2317699142 | GAMT | c.402C= (p.Tyr134=) c.85C= n.235C= c.333C= (p.Tyr111=) c.87C= (p.Tyr29=) | |
19 | g.1399185G>T | CA402995399 | GAMT | c.402C>A (p.Tyr134Ter) c.85C>A n.235C>A c.333C>A (p.Tyr111Ter) c.87C>A (p.Tyr29Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399186T>A | CA402995401 | GAMT | c.401A>T (p.Tyr134Phe) c.84A>T n.234A>T c.332A>T (p.Tyr111Phe) c.86A>T (p.Tyr29Phe) | |
19 | g.1399186T>C | CA402995403 | GAMT | c.401A>G (p.Tyr134Cys) c.84A>G n.234A>G c.332A>G (p.Tyr111Cys) c.86A>G (p.Tyr29Cys) | |
19 | g.1399186T>G | CA402995405 | GAMT | c.401A>C (p.Tyr134Ser) c.84A>C n.234A>C c.332A>C (p.Tyr111Ser) c.86A>C (p.Tyr29Ser) | |
19 | g.1399187A>C | CA402995407 | GAMT | c.400T>G (p.Tyr134Asp) c.83T>G n.233T>G c.331T>G (p.Tyr111Asp) c.85T>G (p.Tyr29Asp) | |
19 | g.1399187A>G | CA402995408 | GAMT | c.400T>C (p.Tyr134His) c.83T>C n.233T>C c.331T>C (p.Tyr111His) c.85T>C (p.Tyr29His) | |
19 | g.1399187A>T | CA402995410 | GAMT | c.400T>A (p.Tyr134Asn) c.83T>A n.233T>A c.331T>A (p.Tyr111Asn) c.85T>A (p.Tyr29Asn) | gnomAD v4 |
19 | g.1399188C>A | CA504730130 | GAMT | c.399G>T (p.Leu133=) c.82G>T n.232G>T c.330G>T (p.Leu110=) c.84G>T (p.Leu28=) | ClinVar dbSNP gnomAD v4 |
19 | g.1399188C>G | CA504730131 | GAMT | c.399G>C (p.Leu133=) c.82G>C n.232G>C c.330G>C (p.Leu110=) c.84G>C (p.Leu28=) | |
19 | g.1399188C>T | CA504730129 | GAMT | c.399G>A (p.Leu133=) c.82G>A n.232G>A c.330G>A (p.Leu110=) c.84G>A (p.Leu28=) | |
19 | g.1399189A>C | CA402995413 | GAMT | c.398T>G (p.Leu133Arg) c.81T>G n.231T>G c.329T>G (p.Leu110Arg) c.83T>G (p.Leu28Arg) | |
19 | g.1399189A>G | CA402995411 | GAMT | c.398T>C (p.Leu133Pro) c.81T>C n.231T>C c.329T>C (p.Leu110Pro) c.83T>C (p.Leu28Pro) | |
19 | g.1399189A>T | CA402995412 | GAMT | c.398T>A (p.Leu133Gln) c.81T>A n.231T>A c.329T>A (p.Leu110Gln) c.83T>A (p.Leu28Gln) | |
19 | g.1399190G>A | CA504730134 | GAMT | c.397C>T (p.Leu133=) c.80C>T n.230C>T c.328C>T (p.Leu110=) c.82C>T (p.Leu28=) | ClinVar dbSNP |
19 | g.1399190G>C | CA402995414 | GAMT | c.397C>G (p.Leu133Val) c.80C>G n.230C>G c.328C>G (p.Leu110Val) c.82C>G (p.Leu28Val) | |
19 | g.1399190G>T | CA402995415 | GAMT | c.397C>A (p.Leu133Met) c.80C>A n.230C>A c.328C>A (p.Leu110Met) c.82C>A (p.Leu28Met) | |
19 | g.1399191dup | CA2576548659 | GAMT | c.397dup (p.Leu133ProfsTer?) c.80dup n.230dup c.328dup (p.Leu110ProfsTer?) c.82dup (p.Leu28ProfsTer?) | |
19 | g.1399191G>A | CA504730136 | GAMT | c.396C>T (p.Ile132=) c.79C>T n.229C>T c.327C>T (p.Ile109=) c.81C>T (p.Ile27=) | gnomAD v4 |
19 | g.1399191G>C | CA402995416 | GAMT | c.396C>G (p.Ile132Met) c.79C>G n.229C>G c.327C>G (p.Ile109Met) c.81C>G (p.Ile27Met) | |
19 | g.1399191G= | CA2317699143 | GAMT | c.396C= (p.Ile132=) c.79C= n.229C= c.327C= (p.Ile109=) c.81C= (p.Ile27=) | |
19 | g.1399191G>T | CA9043674 | GAMT | c.396C>A (p.Ile132=) c.79C>A n.229C>A c.327C>A (p.Ile109=) c.81C>A (p.Ile27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399192A>C | CA402995418 | GAMT | c.395T>G (p.Ile132Ser) c.78T>G n.228T>G c.326T>G (p.Ile109Ser) c.80T>G (p.Ile27Ser) | |
19 | g.1399192A>G | CA402995420 | GAMT | c.395T>C (p.Ile132Thr) c.78T>C n.228T>C c.326T>C (p.Ile109Thr) c.80T>C (p.Ile27Thr) | |
19 | g.1399192A>T | CA402995424 | GAMT | c.395T>A (p.Ile132Asn) c.78T>A n.228T>A c.326T>A (p.Ile109Asn) c.80T>A (p.Ile27Asn) | |
19 | g.1399193T>A | CA402995426 | GAMT | c.394A>T (p.Ile132Phe) c.77A>T n.227A>T c.325A>T (p.Ile109Phe) c.79A>T (p.Ile27Phe) | |
19 | g.1399193T>C | CA304066141 | GAMT | c.394A>G (p.Ile132Val) c.77A>G n.227A>G c.325A>G (p.Ile109Val) c.79A>G (p.Ile27Val) | dbSNP |
19 | g.1399193T>G | CA402995432 | GAMT | c.394A>C (p.Ile132Leu) c.77A>C n.227A>C c.325A>C (p.Ile109Leu) c.79A>C (p.Ile27Leu) | |
19 | g.1399193T= | CA2317699144 | GAMT | c.394A= (p.Ile132=) c.77A= n.227A= c.325A= (p.Ile109=) c.79A= (p.Ile27=) | |
19 | g.1399194C>A | CA504730140 | GAMT | c.393G>T (p.Gly131=) c.76G>T n.226G>T c.324G>T (p.Gly108=) c.78G>T (p.Gly26=) | ClinVar gnomAD v4 |
19 | g.1399194C= | CA2317699145 | GAMT | c.393G= (p.Gly131=) c.76G= n.226G= c.324G= (p.Gly108=) c.78G= (p.Gly26=) | |
19 | g.1399194C>G | CA504730142 | GAMT | c.393G>C (p.Gly131=) c.76G>C n.226G>C c.324G>C (p.Gly108=) c.78G>C (p.Gly26=) | |
19 | g.1399194C>T | CA504730143 | GAMT | c.393G>A (p.Gly131=) c.76G>A n.226G>A c.324G>A (p.Gly108=) c.78G>A (p.Gly26=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399195C>A | CA402995437 | GAMT | c.392G>T (p.Gly131Val) c.75G>T n.225G>T c.323G>T (p.Gly108Val) c.77G>T (p.Gly26Val) | |
19 | g.1399195C= | CA2317699146 | GAMT | c.392G= (p.Gly131=) c.75G= n.225G= c.323G= (p.Gly108=) c.77G= (p.Gly26=) | |
19 | g.1399195C>G | CA9043675 | GAMT | c.392G>C (p.Gly131Ala) c.75G>C n.225G>C c.323G>C (p.Gly108Ala) c.77G>C (p.Gly26Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399195C>T | CA304066150 | GAMT | c.392G>A (p.Gly131Glu) c.75G>A n.225G>A c.323G>A (p.Gly108Glu) c.77G>A (p.Gly26Glu) | dbSNP gnomAD v4 |
19 | g.1399196C>A | CA402995438 | GAMT | c.392-1G>T (n.392-1G>T) c.75-1G>T n.225-1G>T c.323-1G>T (n.323-1G>T) c.77-1G>T (n.77-1G>T) | |
19 | g.1399196C= | CA2317699147 | GAMT | c.392-1G= (n.392-1G=) c.75-1G= n.225-1G= c.323-1G= (n.323-1G=) c.77-1G= (n.77-1G=) | |
19 | g.1399196C>G | CA402995439 | GAMT | c.392-1G>C (n.392-1G>C) c.75-1G>C n.225-1G>C c.323-1G>C (n.323-1G>C) c.77-1G>C (n.77-1G>C) | |
19 | g.1399196C>T | CA402995440 | GAMT | c.392-1G>A (n.392-1G>A) c.75-1G>A n.225-1G>A c.323-1G>A (n.323-1G>A) c.77-1G>A (n.77-1G>A) | ClinVar dbSNP |
19 | g.1399197T>A | CA402995442 | GAMT | c.392-2A>T (n.392-2A>T) c.75-2A>T n.225-2A>T c.323-2A>T (n.323-2A>T) c.77-2A>T (n.77-2A>T) | |
19 | g.1399197T>C | CA402995443 | GAMT | c.392-2A>G (n.392-2A>G) c.75-2A>G n.225-2A>G c.323-2A>G (n.323-2A>G) c.77-2A>G (n.77-2A>G) | ClinVar dbSNP gnomAD v4 |
19 | g.1399197T>G | CA402995445 | GAMT | c.392-2A>C (n.392-2A>C) c.75-2A>C n.225-2A>C c.323-2A>C (n.323-2A>C) c.77-2A>C (n.77-2A>C) | |
19 | g.1399197T= | CA2317699148 | GAMT | c.392-2A= (n.392-2A=) c.75-2A= n.225-2A= c.323-2A= (n.323-2A=) c.77-2A= (n.77-2A=) | |
19 | g.1399198G>C | CA2576548660 | GAMT | c.392-3C>G (n.392-3C>G) c.75-3C>G n.225-3C>G c.323-3C>G (n.323-3C>G) c.77-3C>G (n.77-3C>G) | |
19 | g.1399198G>T | CA2582641099 | GAMT | c.392-3C>A (n.392-3C>A) c.75-3C>A n.225-3C>A c.323-3C>A (n.323-3C>A) c.77-3C>A (n.77-3C>A) | gnomAD v4 |
19 | g.1399200A= | CA2317699149 | GAMT | c.392-5T= (n.392-5T=) c.75-5T= n.225-5T= c.323-5T= (n.323-5T=) c.77-5T= (n.77-5T=) | |
19 | g.1399200A>C | CA2580096069 | GAMT | c.392-5T>G (n.392-5T>G) c.75-5T>G n.225-5T>G c.323-5T>G (n.323-5T>G) c.77-5T>G (n.77-5T>G) | ClinVar gnomAD v4 |
19 | g.1399200A>G | CA9043676 | GAMT | c.392-5T>C (n.392-5T>C) c.75-5T>C n.225-5T>C c.323-5T>C (n.323-5T>C) c.77-5T>C (n.77-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399201C= | CA2317699150 | GAMT | c.392-6G= (n.392-6G=) c.75-6G= n.225-6G= c.323-6G= (n.323-6G=) c.77-6G= (n.77-6G=) | |
19 | g.1399201C>G | CA2499225404 | GAMT | c.392-6G>C (n.392-6G>C) c.75-6G>C n.225-6G>C c.323-6G>C (n.323-6G>C) c.77-6G>C (n.77-6G>C) | ClinVar dbSNP gnomAD v4 |
19 | g.1399201C>T | CA9043677 | GAMT | c.392-6G>A (n.392-6G>A) c.75-6G>A n.225-6G>A c.323-6G>A (n.323-6G>A) c.77-6G>A (n.77-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399202G>A | CA291019 | GAMT | c.392-7C>T (n.392-7C>T) c.75-7C>T n.225-7C>T c.323-7C>T (n.323-7C>T) c.77-7C>T (n.77-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399202G= | CA2317699151 | GAMT | c.392-7C= (n.392-7C=) c.75-7C= n.225-7C= c.323-7C= (n.323-7C=) c.77-7C= (n.77-7C=) | |
19 | g.1399203G>C | CA2582641100 | GAMT | c.392-8C>G (n.392-8C>G) c.75-8C>G n.225-8C>G c.323-8C>G (n.323-8C>G) c.77-8C>G (n.77-8C>G) | gnomAD v4 |
19 | g.1399204A= | CA2317699152 | GAMT | c.392-9T= (n.392-9T=) c.75-9T= n.225-9T= c.323-9T= (n.323-9T=) c.77-9T= (n.77-9T=) | |
19 | g.1399204A>C | CA916083671 | GAMT | c.392-9T>G (n.392-9T>G) c.75-9T>G n.225-9T>G c.323-9T>G (n.323-9T>G) c.77-9T>G (n.77-9T>G) | ClinVar dbSNP |
19 | g.1399204A>G | CA2739276353 | GAMT | c.392-9T>C (n.392-9T>C) c.75-9T>C n.225-9T>C c.323-9T>C (n.323-9T>C) c.77-9T>C (n.77-9T>C) | ClinVar |
19 | g.1399205G>A | CA2576548661 | GAMT | c.392-10C>T (n.392-10C>T) c.75-10C>T n.225-10C>T c.323-10C>T (n.323-10C>T) c.77-10C>T (n.77-10C>T) | ClinVar gnomAD v4 |
19 | g.1399205G>C | CA2582641101 | GAMT | c.392-10C>G (n.392-10C>G) c.75-10C>G n.225-10C>G c.323-10C>G (n.323-10C>G) c.77-10C>G (n.77-10C>G) | gnomAD v4 |
19 | g.1399206A= | CA2317699153 | GAMT | c.392-11T= (n.392-11T=) c.75-11T= n.225-11T= c.323-11T= (n.323-11T=) c.77-11T= (n.77-11T=) | |
19 | g.1399206A>G | CA9043678 | GAMT | c.392-11T>C (n.392-11T>C) c.75-11T>C n.225-11T>C c.323-11T>C (n.323-11T>C) c.77-11T>C (n.77-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399208C>A | CA2697555585 | GAMT | c.392-13G>T (n.392-13G>T) c.75-13G>T n.225-13G>T c.323-13G>T (n.323-13G>T) c.77-13G>T (n.77-13G>T) | ClinVar |
19 | g.1399208C>T | CA2697555586 | GAMT | c.392-13G>A (n.392-13G>A) c.75-13G>A n.225-13G>A c.323-13G>A (n.323-13G>A) c.77-13G>A (n.77-13G>A) | ClinVar |
19 | g.1399211_1399226del | CA2581947600 | GAMT | c.392-28_392-13del (n.392-28_392-13del) c.75-28_75-13del n.225-28_225-13del c.323-28_323-13del (n.323-28_323-13del) c.77-28_77-13del (n.77-28_77-13del) | gnomAD v3 gnomAD v4 |
19 | g.1399209A>G | CA2739276354 | GAMT | c.392-14T>C (n.392-14T>C) c.75-14T>C n.225-14T>C c.323-14T>C (n.323-14T>C) c.77-14T>C (n.77-14T>C) | ClinVar |
19 | g.1399210_1399211del | CA2697555587 | GAMT | c.392-15_392-14del (n.392-15_392-14del) c.75-15_75-14del n.225-15_225-14del c.323-15_323-14del (n.323-15_323-14del) c.77-15_77-14del (n.77-15_77-14del) | ClinVar |
19 | g.1399210G>A | CA2576548662 | GAMT | c.392-15C>T (n.392-15C>T) c.75-15C>T n.225-15C>T c.323-15C>T (n.323-15C>T) c.77-15C>T (n.77-15C>T) | ClinVar gnomAD v4 |
19 | g.1399212A= | CA2317699154 | GAMT | c.392-17T= (n.392-17T=) c.75-17T= n.225-17T= c.323-17T= (n.323-17T=) c.77-17T= (n.77-17T=) | |
19 | g.1399212A>C | CA2317699155 | GAMT | c.392-17T>G (n.392-17T>G) c.75-17T>G n.225-17T>G c.323-17T>G (n.323-17T>G) c.77-17T>G (n.77-17T>G) | ClinVar dbSNP |
19 | g.1399212A>G | CA2582641102 | GAMT | c.392-17T>C (n.392-17T>C) c.75-17T>C n.225-17T>C c.323-17T>C (n.323-17T>C) c.77-17T>C (n.77-17T>C) | gnomAD v4 |
19 | g.1399213G= | CA2317699156 | GAMT | c.392-18C= (n.392-18C=) c.75-18C= n.225-18C= c.323-18C= (n.323-18C=) c.77-18C= (n.77-18C=) | |
19 | g.1399214C>A | CA304066163 | GAMT | c.392-19G>T (n.392-19G>T) c.75-19G>T n.225-19G>T c.323-19G>T (n.323-19G>T) c.77-19G>T (n.77-19G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399214C= | CA2317699157 | GAMT | c.392-19G= (n.392-19G=) c.75-19G= n.225-19G= c.323-19G= (n.323-19G=) c.77-19G= (n.77-19G=) | |
19 | g.1399214C>T | CA631044735 | GAMT | c.392-19G>A (n.392-19G>A) c.75-19G>A n.225-19G>A c.323-19G>A (n.323-19G>A) c.77-19G>A (n.77-19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399216dup | CA9043679 | GAMT | c.392-19dup (n.392-19dup) c.75-19dup n.225-19dup c.323-19dup (n.323-19dup) c.77-19dup (n.77-19dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399216C>A | CA2576548663 | GAMT | c.392-21G>T (n.392-21G>T) c.75-21G>T n.225-21G>T c.323-21G>T (n.323-21G>T) c.77-21G>T (n.77-21G>T) | |
19 | g.1399218C>A | CA304066165 | GAMT | c.392-23G>T (n.392-23G>T) c.75-23G>T n.225-23G>T c.323-23G>T (n.323-23G>T) c.77-23G>T (n.77-23G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399218C= | CA2317699158 | GAMT | c.392-23G= (n.392-23G=) c.75-23G= n.225-23G= c.323-23G= (n.323-23G=) c.77-23G= (n.77-23G=) | |
19 | g.1399218C>G | CA9043681 | GAMT | c.392-23G>C (n.392-23G>C) c.75-23G>C n.225-23G>C c.323-23G>C (n.323-23G>C) c.77-23G>C (n.77-23G>C) | dbSNP ExAC gnomAD v4 |
19 | g.1399218C>T | CA9043680 | GAMT | c.392-23G>A (n.392-23G>A) c.75-23G>A n.225-23G>A c.323-23G>A (n.323-23G>A) c.77-23G>A (n.77-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399219G>A | CA9043682 | GAMT | c.392-24C>T (n.392-24C>T) c.75-24C>T n.225-24C>T c.323-24C>T (n.323-24C>T) c.77-24C>T (n.77-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399219G>C | CA783506563 | GAMT | c.392-24C>G (n.392-24C>G) c.75-24C>G n.225-24C>G c.323-24C>G (n.323-24C>G) c.77-24C>G (n.77-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399219G= | CA2317699159 | GAMT | c.392-24C= (n.392-24C=) c.75-24C= n.225-24C= c.323-24C= (n.323-24C=) c.77-24C= (n.77-24C=) | |
19 | g.1399220del | CA2576548664 | GAMT | c.392-25del (n.392-25del) c.75-25del n.225-25del c.323-25del (n.323-25del) c.77-25del (n.77-25del) | |
19 | g.1399220C>A | CA2576548665 | GAMT | c.392-25G>T (n.392-25G>T) c.75-25G>T n.225-25G>T c.323-25G>T (n.323-25G>T) c.77-25G>T (n.77-25G>T) | gnomAD v4 |
19 | g.1399220C= | CA2317699161 | GAMT | c.392-25G= (n.392-25G=) c.75-25G= n.225-25G= c.323-25G= (n.323-25G=) c.77-25G= (n.77-25G=) | |
19 | g.1399220C>G | CA2582641103 | GAMT | c.392-25G>C (n.392-25G>C) c.75-25G>C n.225-25G>C c.323-25G>C (n.323-25G>C) c.77-25G>C (n.77-25G>C) | gnomAD v4 |
19 | g.1399220C>T | CA304066169 | GAMT | c.392-25G>A (n.392-25G>A) c.75-25G>A n.225-25G>A c.323-25G>A (n.323-25G>A) c.77-25G>A (n.77-25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399220_1399232delinsCGGTCAGGGCCGG | CA2317699160 | GAMT | c.392-37_392-25delinsCCGGCCCTGACCG (n.392-37_392-25delinsCCGGCCCTGACCG) c.75-37_75-25delinsCCGGCCCTGACCG n.225-37_225-25delinsCCGGCCCTGACCG c.323-37_323-25delinsCCGGCCCTGACCG (n.323-37_323-25delinsCCGGCCCTGACCG) c.77-37_77-25delinsCCGGCCCTGACCG (n.77-37_77-25delinsCCGGCCCTGACCG) | |
19 | g.1399221G>A | CA9043684 | GAMT | c.392-26C>T (n.392-26C>T) c.75-26C>T n.225-26C>T c.323-26C>T (n.323-26C>T) c.77-26C>T (n.77-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399221G>C | CA2582641104 | GAMT | c.392-26C>G (n.392-26C>G) c.75-26C>G n.225-26C>G c.323-26C>G (n.323-26C>G) c.77-26C>G (n.77-26C>G) | gnomAD v4 |
19 | g.1399221G= | CA2317699162 | GAMT | c.392-26C= (n.392-26C=) c.75-26C= n.225-26C= c.323-26C= (n.323-26C=) c.77-26C= (n.77-26C=) | |
19 | g.1399221G>T | CA2582641105 | GAMT | c.392-26C>A (n.392-26C>A) c.75-26C>A n.225-26C>A c.323-26C>A (n.323-26C>A) c.77-26C>A (n.77-26C>A) | gnomAD v4 |
19 | g.1399222_1399233del | CA9043683 | GAMT | c.392-37_392-26del (n.392-37_392-26del) c.75-37_75-26del n.225-37_225-26del c.323-37_323-26del (n.323-37_323-26del) c.77-37_77-26del (n.77-37_77-26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399222G>A | CA631044736 | GAMT | c.392-27C>T (n.392-27C>T) c.75-27C>T n.225-27C>T c.323-27C>T (n.323-27C>T) c.77-27C>T (n.77-27C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1399222G= | CA2317699163 | GAMT | c.392-27C= (n.392-27C=) c.75-27C= n.225-27C= c.323-27C= (n.323-27C=) c.77-27C= (n.77-27C=) | |
19 | g.1399223T>C | CA2582641106 | GAMT | c.392-28A>G (n.392-28A>G) c.75-28A>G n.225-28A>G c.323-28A>G (n.323-28A>G) c.77-28A>G (n.77-28A>G) | gnomAD v4 |
19 | g.1399224C>A | CA2582641107 | GAMT | c.392-29G>T (n.392-29G>T) c.75-29G>T n.225-29G>T c.323-29G>T (n.323-29G>T) c.77-29G>T (n.77-29G>T) | gnomAD v4 |
19 | g.1399226G>A | CA2582641108 | GAMT | c.392-31C>T (n.392-31C>T) c.75-31C>T n.225-31C>T c.323-31C>T (n.323-31C>T) c.77-31C>T (n.77-31C>T) | gnomAD v4 |
19 | g.1399228G>A | CA2582641109 | GAMT | c.392-33C>T (n.392-33C>T) c.75-33C>T n.225-33C>T c.323-33C>T (n.323-33C>T) c.77-33C>T (n.77-33C>T) | gnomAD v4 |
19 | g.1399228G>T | CA2576548666 | GAMT | c.392-33C>A (n.392-33C>A) c.75-33C>A n.225-33C>A c.323-33C>A (n.323-33C>A) c.77-33C>A (n.77-33C>A) | gnomAD v4 |
19 | g.1399230del | CA2582641110 | GAMT | c.392-34del (n.392-34del) c.75-34del n.225-34del c.323-34del (n.323-34del) c.77-34del (n.77-34del) | gnomAD v4 |
19 | g.1399230C= | CA2317699164 | GAMT | c.392-35G= (n.392-35G=) c.75-35G= n.225-35G= c.323-35G= (n.323-35G=) c.77-35G= (n.77-35G=) | |
19 | g.1399230C>G | CA631044737 | GAMT | c.392-35G>C (n.392-35G>C) c.75-35G>C n.225-35G>C c.323-35G>C (n.323-35G>C) c.77-35G>C (n.77-35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399230C>T | CA9043685 | GAMT | c.392-35G>A (n.392-35G>A) c.75-35G>A n.225-35G>A c.323-35G>A (n.323-35G>A) c.77-35G>A (n.77-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399231G>A | CA9043686 | GAMT | c.392-36C>T (n.392-36C>T) c.75-36C>T n.225-36C>T c.323-36C>T (n.323-36C>T) c.77-36C>T (n.77-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399231G>C | CA9043687 | GAMT | c.392-36C>G (n.392-36C>G) c.75-36C>G n.225-36C>G c.323-36C>G (n.323-36C>G) c.77-36C>G (n.77-36C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399231G= | CA2317699165 | GAMT | c.392-36C= (n.392-36C=) c.75-36C= n.225-36C= c.323-36C= (n.323-36C=) c.77-36C= (n.77-36C=) | |
19 | g.1399232G>T | CA2582641111 | GAMT | c.392-37C>A (n.392-37C>A) c.75-37C>A n.225-37C>A c.323-37C>A (n.323-37C>A) c.77-37C>A (n.77-37C>A) | gnomAD v4 |
19 | g.1399235T>G | CA2582641112 | GAMT | c.392-40A>C (n.392-40A>C) c.75-40A>C n.225-40A>C c.323-40A>C (n.323-40A>C) c.77-40A>C (n.77-40A>C) | gnomAD v4 |
19 | g.1399235_1399247delinsTCAGCGCCTCACC | CA2317699166 | GAMT | c.392-52_392-40delinsGGTGAGGCGCTGA (n.392-52_392-40delinsGGTGAGGCGCTGA) c.75-52_75-40delinsGGTGAGGCGCTGA n.225-52_225-40delinsGGTGAGGCGCTGA c.323-52_323-40delinsGGTGAGGCGCTGA (n.323-52_323-40delinsGGTGAGGCGCTGA) c.77-52_77-40delinsGGTGAGGCGCTGA (n.77-52_77-40delinsGGTGAGGCGCTGA) | |
19 | g.1399236C= | CA2317699167 | GAMT | c.392-41G= (n.392-41G=) c.75-41G= n.225-41G= c.323-41G= (n.323-41G=) c.77-41G= (n.77-41G=) | |
19 | g.1399236C>G | CA2317699168 | GAMT | c.392-41G>C (n.392-41G>C) c.75-41G>C n.225-41G>C c.323-41G>C (n.323-41G>C) c.77-41G>C (n.77-41G>C) | dbSNP gnomAD v4 |
19 | g.1399236C>T | CA2582641113 | GAMT | c.392-41G>A (n.392-41G>A) c.75-41G>A n.225-41G>A c.323-41G>A (n.323-41G>A) c.77-41G>A (n.77-41G>A) | gnomAD v4 |
19 | g.1399240_1399251del | CA2317699169 | GAMT | c.392-52_392-41del (n.392-52_392-41del) c.75-52_75-41del n.225-52_225-41del c.323-52_323-41del (n.323-52_323-41del) c.77-52_77-41del (n.77-52_77-41del) | dbSNP |
19 | g.1399238G>C | CA2582641114 | GAMT | c.392-43C>G (n.392-43C>G) c.75-43C>G n.225-43C>G c.323-43C>G (n.323-43C>G) c.77-43C>G (n.77-43C>G) | gnomAD v4 |
19 | g.1399239C= | CA2317699171 | GAMT | c.392-44G= (n.392-44G=) c.75-44G= n.225-44G= c.323-44G= (n.323-44G=) c.77-44G= (n.77-44G=) | |
19 | g.1399239C>T | CA9043690 | GAMT | c.392-44G>A (n.392-44G>A) c.75-44G>A n.225-44G>A c.323-44G>A (n.323-44G>A) c.77-44G>A (n.77-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399239_1399249delinsCGCCTCACCCA | CA2317699170 | GAMT | c.392-54_392-44delinsTGGGTGAGGCG (n.392-54_392-44delinsTGGGTGAGGCG) c.75-54_75-44delinsTGGGTGAGGCG n.225-54_225-44delinsTGGGTGAGGCG c.323-54_323-44delinsTGGGTGAGGCG (n.323-54_323-44delinsTGGGTGAGGCG) c.77-54_77-44delinsTGGGTGAGGCG (n.77-54_77-44delinsTGGGTGAGGCG) | |
19 | g.1399240G>A | CA9043691 | GAMT | c.392-45C>T (n.392-45C>T) c.75-45C>T n.225-45C>T c.323-45C>T (n.323-45C>T) c.77-45C>T (n.77-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399240G= | CA2317699172 | GAMT | c.392-45C= (n.392-45C=) c.75-45C= n.225-45C= c.323-45C= (n.323-45C=) c.77-45C= (n.77-45C=) | |
19 | g.1399240G>T | CA2582641115 | GAMT | c.392-45C>A (n.392-45C>A) c.75-45C>A n.225-45C>A c.323-45C>A (n.323-45C>A) c.77-45C>A (n.77-45C>A) | gnomAD v4 |
19 | g.1399249_1399258dup | CA9043688 | GAMT | c.392-54_392-45dup (n.392-54_392-45dup) c.75-54_75-45dup n.225-54_225-45dup c.323-54_323-45dup (n.323-54_323-45dup) c.77-54_77-45dup (n.77-54_77-45dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1399249_1399258del | CA9043689 | GAMT | c.392-54_392-45del (n.392-54_392-45del) c.75-54_75-45del n.225-54_225-45del c.323-54_323-45del (n.323-54_323-45del) c.77-54_77-45del (n.77-54_77-45del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399242C>T | CA2582641116 | GAMT | c.392-47G>A (n.392-47G>A) c.75-47G>A n.225-47G>A c.323-47G>A (n.323-47G>A) c.77-47G>A (n.77-47G>A) | gnomAD v4 |
19 | g.1399243T>C | CA2582641117 | GAMT | c.392-48A>G (n.392-48A>G) c.75-48A>G n.225-48A>G c.323-48A>G (n.323-48A>G) c.77-48A>G (n.77-48A>G) | gnomAD v4 |
19 | g.1399244C>T | CA2582641118 | GAMT | c.392-49G>A (n.392-49G>A) c.75-49G>A n.225-49G>A c.323-49G>A (n.323-49G>A) c.77-49G>A (n.77-49G>A) | gnomAD v4 |
19 | g.1399245A= | CA2317699173 | GAMT | c.392-50T= (n.392-50T=) c.75-50T= n.225-50T= c.323-50T= (n.323-50T=) c.77-50T= (n.77-50T=) | |
19 | g.1399245A>C | CA9043692 | GAMT | c.392-50T>G (n.392-50T>G) c.75-50T>G n.225-50T>G c.323-50T>G (n.323-50T>G) c.77-50T>G (n.77-50T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1399245A>G | CA2581947601 | GAMT | c.392-50T>C (n.392-50T>C) c.75-50T>C n.225-50T>C c.323-50T>C (n.323-50T>C) c.77-50T>C (n.77-50T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1399245A>T | CA2576548667 | GAMT | c.392-50T>A (n.392-50T>A) c.75-50T>A n.225-50T>A c.323-50T>A (n.323-50T>A) c.77-50T>A (n.77-50T>A) | |
19 | g.1399246C>A | CA2813256020 | GAMT | c.392-51G>T (n.392-51G>T) c.75-51G>T n.225-51G>T c.323-51G>T (n.323-51G>T) c.77-51G>T (n.77-51G>T) | |
19 | g.1399246C>T | CA2581947602 | GAMT | c.392-51G>A (n.392-51G>A) c.75-51G>A n.225-51G>A c.323-51G>A (n.323-51G>A) c.77-51G>A (n.77-51G>A) | dbSNP gnomAD v3 gnomAD v4 |