Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1399153_1399154dupCA2580612585GAMTc.440_441dup (p.Gln148ThrfsTer14)
c.123_124dup
n.273_274dup
c.371_372dup (p.Gln125ThrfsTer14)
c.125_126dup (p.Gln43ThrfsTer14)
 ClinVar dbSNP
19g.1399153_1399154delCA631044734GAMTc.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
19g.1399148_1399149delinsGTCA2317699117GAMTc.438_439delinsAC (p.Thr146=)
c.121_122delinsAC
n.271_272delinsAC
c.369_370delinsAC (p.Thr123=)
c.123_124delinsAC (p.Thr41=)
19g.1399149delCA2317699118GAMTc.438del (p.His147ThrfsTer14)
c.121del
n.271del
c.369del (p.His124ThrfsTer14)
c.123del (p.His42ThrfsTer14)
 dbSNP
19g.1399149T>ACA504730083GAMTc.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
19g.1399149T>CCA341572GAMTc.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
19g.1399149T>GCA504730084GAMTc.438A>C (p.Thr146=)
c.121A>C
n.271A>C
c.369A>C (p.Thr123=)
c.123A>C (p.Thr41=)
19g.1399149T=CA2317699119GAMTc.438A= (p.Thr146=)
c.121A=
n.271A=
c.369A= (p.Thr123=)
c.123A= (p.Thr41=)
19g.1399150G>ACA402995100GAMTc.437C>T (p.Thr146Ile)
c.120C>T
n.270C>T
c.368C>T (p.Thr123Ile)
c.122C>T (p.Thr41Ile)
19g.1399150G>CCA9043661GAMTc.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
19g.1399150G=CA2317699120GAMTc.437C= (p.Thr146=)
c.120C=
n.270C=
c.368C= (p.Thr123=)
c.122C= (p.Thr41=)
19g.1399150G>TCA402995104GAMTc.437C>A (p.Thr146Lys)
c.120C>A
n.270C>A
c.368C>A (p.Thr123Lys)
c.122C>A (p.Thr41Lys)
19g.1399151T>ACA402995105GAMTc.436A>T (p.Thr146Ser)
c.119A>T
n.269A>T
c.367A>T (p.Thr123Ser)
c.121A>T (p.Thr41Ser)
19g.1399151T>CCA402995108GAMTc.436A>G (p.Thr146Ala)
c.119A>G
n.269A>G
c.367A>G (p.Thr123Ala)
c.121A>G (p.Thr41Ala)
19g.1399151T>GCA402995114GAMTc.436A>C (p.Thr146Pro)
c.119A>C
n.269A>C
c.367A>C (p.Thr123Pro)
c.121A>C (p.Thr41Pro)
19g.1399152G>ACA504730088GAMTc.435C>T (p.His145=)
c.118C>T
n.268C>T
c.366C>T (p.His122=)
c.120C>T (p.His40=)
 gnomAD v4
19g.1399152G>CCA402995115GAMTc.435C>G (p.His145Gln)
c.118C>G
n.268C>G
c.366C>G (p.His122Gln)
c.120C>G (p.His40Gln)
 ClinVar dbSNP
19g.1399152G>TCA402995116GAMTc.435C>A (p.His145Gln)
c.118C>A
n.268C>A
c.366C>A (p.His122Gln)
c.120C>A (p.His40Gln)
19g.1399153T>ACA402995119GAMTc.434A>T (p.His145Leu)
c.117A>T
n.267A>T
c.365A>T (p.His122Leu)
c.119A>T (p.His40Leu)
19g.1399153T>CCA402995123GAMTc.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
19g.1399153T>GCA402995127GAMTc.434A>C (p.His145Pro)
c.117A>C
n.267A>C
c.365A>C (p.His122Pro)
c.119A>C (p.His40Pro)
19g.1399153T=CA2317699121GAMTc.434A= (p.His145=)
c.117A=
n.267A=
c.365A= (p.His122=)
c.119A= (p.His40=)
19g.1399154G>ACA402995134GAMTc.433C>T (p.His145Tyr)
c.116C>T
n.266C>T
c.364C>T (p.His122Tyr)
c.118C>T (p.His40Tyr)
 gnomAD v4
19g.1399154G>CCA402995140GAMTc.433C>G (p.His145Asp)
c.116C>G
n.266C>G
c.364C>G (p.His122Asp)
c.118C>G (p.His40Asp)
19g.1399154G>TCA402995129GAMTc.433C>A (p.His145Asn)
c.116C>A
n.266C>A
c.364C>A (p.His122Asn)
c.118C>A (p.His40Asn)
19g.1399154_1399155dupCA2573155792GAMTc.432_433dup (p.His145ArgfsTer17)
c.115_116dup
n.265_266dup
c.363_364dup (p.His122ArgfsTer17)
c.117_118dup (p.His40ArgfsTer17)
 ClinVar dbSNP
19g.1399155C>ACA402995143GAMTc.432G>T (p.Trp144Cys)
c.115G>T
n.265G>T
c.363G>T (p.Trp121Cys)
c.117G>T (p.Trp39Cys)
19g.1399155C=CA2317699122GAMTc.432G= (p.Trp144=)
c.115G=
n.265G=
c.363G= (p.Trp121=)
c.117G= (p.Trp39=)
19g.1399155C>GCA402995148GAMTc.432G>C (p.Trp144Cys)
c.115G>C
n.265G>C
c.363G>C (p.Trp121Cys)
c.117G>C (p.Trp39Cys)
19g.1399155C>TCA402995151GAMTc.432G>A (p.Trp144Ter)
c.115G>A
n.265G>A
c.363G>A (p.Trp121Ter)
c.117G>A (p.Trp39Ter)
 ClinVar dbSNP
19g.1399156C>ACA402995155GAMTc.431G>T (p.Trp144Leu)
c.114G>T
n.264G>T
c.362G>T (p.Trp121Leu)
c.116G>T (p.Trp39Leu)
19g.1399156C>GCA402995157GAMTc.431G>C (p.Trp144Ser)
c.114G>C
n.264G>C
c.362G>C (p.Trp121Ser)
c.116G>C (p.Trp39Ser)
19g.1399156C>TCA402995158GAMTc.431G>A (p.Trp144Ter)
c.114G>A
n.264G>A
c.362G>A (p.Trp121Ter)
c.116G>A (p.Trp39Ter)
 gnomAD v4
19g.1399156_1399159delinsCAGGCA2317699123GAMTc.428_431delinsCCTG (p.Thr143=)
c.111_114delinsCCTG
n.261_264delinsCCTG
c.359_362delinsCCTG (p.Thr120=)
c.113_116delinsCCTG (p.Thr38=)
19g.1399157A>CCA402995159GAMTc.430T>G (p.Trp144Gly)
c.113T>G
n.263T>G
c.361T>G (p.Trp121Gly)
c.115T>G (p.Trp39Gly)
19g.1399157A>GCA402995161GAMTc.430T>C (p.Trp144Arg)
c.113T>C
n.263T>C
c.361T>C (p.Trp121Arg)
c.115T>C (p.Trp39Arg)
19g.1399157A>TCA402995169GAMTc.430T>A (p.Trp144Arg)
c.113T>A
n.263T>A
c.361T>A (p.Trp121Arg)
c.115T>A (p.Trp39Arg)
19g.1399157_1399159delCA783446235GAMTc.428_430del (p.Thr143_Trp144delinsArg)
c.111_113del
n.261_263del
c.359_361del (p.Thr120_Trp121delinsArg)
c.113_115del (p.Thr38_Trp39delinsArg)
 dbSNP
19g.1399158G>ACA504730092GAMTc.429C>T (p.Thr143=)
c.112C>T
n.262C>T
c.360C>T (p.Thr120=)
c.114C>T (p.Thr38=)
 ClinVar dbSNP
19g.1399158G>CCA9043662GAMTc.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
19g.1399158G=CA2317699124GAMTc.429C= (p.Thr143=)
c.112C=
n.262C=
c.360C= (p.Thr120=)
c.114C= (p.Thr38=)
19g.1399158G>TCA504730093GAMTc.429C>A (p.Thr143=)
c.112C>A
n.262C>A
c.360C>A (p.Thr120=)
c.114C>A (p.Thr38=)
19g.1399159G>ACA9043663GAMTc.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
19g.1399159G>CCA402995182GAMTc.428C>G (p.Thr143Ser)
c.111C>G
n.261C>G
c.359C>G (p.Thr120Ser)
c.113C>G (p.Thr38Ser)
 gnomAD v4
19g.1399159G=CA2317699125GAMTc.428C= (p.Thr143=)
c.111C=
n.261C=
c.359C= (p.Thr120=)
c.113C= (p.Thr38=)
19g.1399159G>TCA402995185GAMTc.428C>A (p.Thr143Asn)
c.111C>A
n.261C>A
c.359C>A (p.Thr120Asn)
c.113C>A (p.Thr38Asn)
19g.1399160T>ACA402995197GAMTc.427A>T (p.Thr143Ser)
c.110A>T
n.260A>T
c.358A>T (p.Thr120Ser)
c.112A>T (p.Thr38Ser)
 ClinVar gnomAD v4
19g.1399160T>CCA402995194GAMTc.427A>G (p.Thr143Ala)
c.110A>G
n.260A>G
c.358A>G (p.Thr120Ala)
c.112A>G (p.Thr38Ala)
19g.1399160T>GCA402995190GAMTc.427A>C (p.Thr143Pro)
c.110A>C
n.260A>C
c.358A>C (p.Thr120Pro)
c.112A>C (p.Thr38Pro)
19g.1399160T=CA2317699126GAMTc.427A= (p.Thr143=)
c.110A=
n.260A=
c.358A= (p.Thr120=)
c.112A= (p.Thr38=)
19g.1399160_1399163delinsTCTCCA2317699127GAMTc.424_427delinsGAGA (p.Glu142=)
c.107_110delinsGAGA
n.257_260delinsGAGA
c.355_358delinsGAGA (p.Glu119=)
c.109_112delinsGAGA (p.Glu37=)
19g.1399161C>ACA402995202GAMTc.426G>T (p.Glu142Asp)
c.109G>T
n.259G>T
c.357G>T (p.Glu119Asp)
c.111G>T (p.Glu37Asp)
19g.1399161C=CA2317699128GAMTc.426G= (p.Glu142=)
c.109G=
n.259G=
c.357G= (p.Glu119=)
c.111G= (p.Glu37=)
19g.1399161C>GCA402995207GAMTc.426G>C (p.Glu142Asp)
c.109G>C
n.259G>C
c.357G>C (p.Glu119Asp)
c.111G>C (p.Glu37Asp)
19g.1399161C>TCA9043664GAMTc.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
19g.1399161_1399162insCACACACCA783446248GAMTc.426_427insTGTGTGG (p.Thr143CysfsTer?)
c.109_110insTGTGTGG
n.259_260insTGTGTGG
c.357_358insTGTGTGG (p.Thr120CysfsTer?)
c.111_112insTGTGTGG (p.Thr38CysfsTer?)
 dbSNP
19g.1399165_1399167delCA992513703GAMTc.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
19g.1399162T>ACA402995214GAMTc.425A>T (p.Glu142Val)
c.108A>T
n.258A>T
c.356A>T (p.Glu119Val)
c.110A>T (p.Glu37Val)
19g.1399162T>CCA402995218GAMTc.425A>G (p.Glu142Gly)
c.108A>G
n.258A>G
c.356A>G (p.Glu119Gly)
c.110A>G (p.Glu37Gly)
19g.1399162T>GCA402995221GAMTc.425A>C (p.Glu142Ala)
c.108A>C
n.258A>C
c.356A>C (p.Glu119Ala)
c.110A>C (p.Glu37Ala)
19g.1399163C>ACA402995225GAMTc.424G>T (p.Glu142Ter)
c.107G>T
n.257G>T
c.355G>T (p.Glu119Ter)
c.109G>T (p.Glu37Ter)
19g.1399163C>GCA402995226GAMTc.424G>C (p.Glu142Gln)
c.107G>C
n.257G>C
c.355G>C (p.Glu119Gln)
c.109G>C (p.Glu37Gln)
19g.1399163C>TCA402995227GAMTc.424G>A (p.Glu142Lys)
c.107G>A
n.257G>A
c.355G>A (p.Glu119Lys)
c.109G>A (p.Glu37Lys)
19g.1399164C>ACA402995228GAMTc.423G>T (p.Glu141Asp)
c.106G>T
n.256G>T
c.354G>T (p.Glu118Asp)
c.108G>T (p.Glu36Asp)
19g.1399164C>GCA402995230GAMTc.423G>C (p.Glu141Asp)
c.106G>C
n.256G>C
c.354G>C (p.Glu118Asp)
c.108G>C (p.Glu36Asp)
 gnomAD v4
19g.1399164C>TCA504730099GAMTc.423G>A (p.Glu141=)
c.106G>A
n.256G>A
c.354G>A (p.Glu118=)
c.108G>A (p.Glu36=)
19g.1399165T>ACA402995238GAMTc.422A>T (p.Glu141Val)
c.105A>T
n.255A>T
c.353A>T (p.Glu118Val)
c.107A>T (p.Glu36Val)
19g.1399165T>CCA402995240GAMTc.422A>G (p.Glu141Gly)
c.105A>G
n.255A>G
c.353A>G (p.Glu118Gly)
c.107A>G (p.Glu36Gly)
19g.1399165T>GCA402995241GAMTc.422A>C (p.Glu141Ala)
c.105A>C
n.255A>C
c.353A>C (p.Glu118Ala)
c.107A>C (p.Glu36Ala)
19g.1399166C>ACA402995249GAMTc.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
19g.1399166C=CA2317699129GAMTc.421G= (p.Glu141=)
c.104G=
n.254G=
c.352G= (p.Glu118=)
c.106G= (p.Glu36=)
19g.1399166C>GCA402995260GAMTc.421G>C (p.Glu141Gln)
c.104G>C
n.254G>C
c.352G>C (p.Glu118Gln)
c.106G>C (p.Glu36Gln)
19g.1399166C>TCA402995245GAMTc.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
19g.1399167C>ACA504730101GAMTc.420G>T (p.Ser140=)
c.103G>T
n.253G>T
c.351G>T (p.Ser117=)
c.105G>T (p.Ser35=)
19g.1399167C=CA2317699130GAMTc.420G= (p.Ser140=)
c.103G=
n.253G=
c.351G= (p.Ser117=)
c.105G= (p.Ser35=)
19g.1399167C>GCA504730102GAMTc.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
19g.1399167C>TCA9043665GAMTc.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
19g.1399168G>ACA9043666GAMTc.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
19g.1399168G>CCA402995271GAMTc.419C>G (p.Ser140Trp)
c.102C>G
n.252C>G
c.350C>G (p.Ser117Trp)
c.104C>G (p.Ser35Trp)
19g.1399168G=CA2317699131GAMTc.419C= (p.Ser140=)
c.102C=
n.252C=
c.350C= (p.Ser117=)
c.104C= (p.Ser35=)
19g.1399168G>TCA402995274GAMTc.419C>A (p.Ser140Ter)
c.102C>A
n.252C>A
c.350C>A (p.Ser117Ter)
c.104C>A (p.Ser35Ter)
 ClinVar dbSNP
19g.1399171_1399172delCA2695223152GAMTc.418_419del (p.Ser140GlyfsTer?)
c.101_102del
n.251_252del
c.349_350del (p.Ser117GlyfsTer?)
c.103_104del (p.Ser35GlyfsTer?)
19g.1399169A=CA2317699132GAMTc.418T= (p.Ser140=)
c.101T=
n.251T=
c.349T= (p.Ser117=)
c.103T= (p.Ser35=)
19g.1399169A>CCA402995278GAMTc.418T>G (p.Ser140Ala)
c.101T>G
n.251T>G
c.349T>G (p.Ser117Ala)
c.103T>G (p.Ser35Ala)
19g.1399169A>GCA402995280GAMTc.418T>C (p.Ser140Pro)
c.101T>C
n.251T>C
c.349T>C (p.Ser117Pro)
c.103T>C (p.Ser35Pro)
19g.1399169A>TCA402995281GAMTc.418T>A (p.Ser140Thr)
c.101T>A
n.251T>A
c.349T>A (p.Ser117Thr)
c.103T>A (p.Ser35Thr)
 ClinVar dbSNP gnomAD v4
19g.1399170G>ACA504730104GAMTc.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
19g.1399170G>CCA504730106GAMTc.417C>G (p.Leu139=)
c.100C>G
n.250C>G
c.348C>G (p.Leu116=)
c.102C>G (p.Leu34=)
19g.1399170G=CA2317699133GAMTc.417C= (p.Leu139=)
c.100C=
n.250C=
c.348C= (p.Leu116=)
c.102C= (p.Leu34=)
19g.1399170G>TCA504730108GAMTc.417C>A (p.Leu139=)
c.100C>A
n.250C>A
c.348C>A (p.Leu116=)
c.102C>A (p.Leu34=)
19g.1399171delCA645614609GAMTc.416del (p.Leu139ProfsTer22)
c.99del
n.249del
c.347del (p.Leu116ProfsTer22)
c.101del (p.Leu34ProfsTer22)
 COSMIC COSMIC
19g.1399171A=CA2317699134GAMTc.416T= (p.Leu139=)
c.99T=
n.249T=
c.347T= (p.Leu116=)
c.101T= (p.Leu34=)
19g.1399171A>CCA402995284GAMTc.416T>G (p.Leu139Arg)
c.99T>G
n.249T>G
c.347T>G (p.Leu116Arg)
c.101T>G (p.Leu34Arg)
19g.1399171A>GCA9043667GAMTc.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
19g.1399171A>TCA402995286GAMTc.416T>A (p.Leu139His)
c.99T>A
n.249T>A
c.347T>A (p.Leu116His)
c.101T>A (p.Leu34His)
19g.1399172G>ACA402995289GAMTc.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
19g.1399172G>CCA402995290GAMTc.415C>G (p.Leu139Val)
c.98C>G
n.248C>G
c.346C>G (p.Leu116Val)
c.100C>G (p.Leu34Val)
19g.1399172G=CA2317699135GAMTc.415C= (p.Leu139=)
c.98C=
n.248C=
c.346C= (p.Leu116=)
c.100C= (p.Leu34=)
19g.1399172G>TCA402995292GAMTc.415C>A (p.Leu139Ile)
c.98C>A
n.248C>A
c.346C>A (p.Leu116Ile)
c.100C>A (p.Leu34Ile)
19g.1399173_1399174delCA2499225403GAMTc.414_415del (p.Ser140GlyfsTer?)
c.97_98del
n.247_248del
c.345_346del (p.Ser117GlyfsTer?)
c.99_100del (p.Ser35GlyfsTer?)
 ClinVar dbSNP gnomAD v4
19g.1399173T>ACA504730112GAMTc.414A>T (p.Pro138=)
c.97A>T
n.247A>T
c.345A>T (p.Pro115=)
c.99A>T (p.Pro33=)
19g.1399173T>CCA504730113GAMTc.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
19g.1399173T>GCA504730114GAMTc.414A>C (p.Pro138=)
c.97A>C
n.247A>C
c.345A>C (p.Pro115=)
c.99A>C (p.Pro33=)
19g.1399173T=CA2317699136GAMTc.414A= (p.Pro138=)
c.97A=
n.247A=
c.345A= (p.Pro115=)
c.99A= (p.Pro33=)
19g.1399174G>ACA402995300GAMTc.413C>T (p.Pro138Leu)
c.96C>T
n.246C>T
c.344C>T (p.Pro115Leu)
c.98C>T (p.Pro33Leu)
 gnomAD v4
19g.1399174G>CCA402995294GAMTc.413C>G (p.Pro138Arg)
c.96C>G
n.246C>G
c.344C>G (p.Pro115Arg)
c.98C>G (p.Pro33Arg)
19g.1399174G>TCA402995296GAMTc.413C>A (p.Pro138Gln)
c.96C>A
n.246C>A
c.344C>A (p.Pro115Gln)
c.98C>A (p.Pro33Gln)
19g.1399176delCA645614610GAMTc.413del (p.Pro138HisfsTer23)
c.96del
n.246del
c.344del (p.Pro115HisfsTer23)
c.98del (p.Pro33HisfsTer23)
 COSMIC COSMIC
19g.1399175G>ACA402995302GAMTc.412C>T (p.Pro138Ser)
c.95C>T
n.245C>T
c.343C>T (p.Pro115Ser)
c.97C>T (p.Pro33Ser)
 gnomAD v4
19g.1399175G>CCA402995310GAMTc.412C>G (p.Pro138Ala)
c.95C>G
n.245C>G
c.343C>G (p.Pro115Ala)
c.97C>G (p.Pro33Ala)
19g.1399175G>TCA402995313GAMTc.412C>A (p.Pro138Thr)
c.95C>A
n.245C>A
c.343C>A (p.Pro115Thr)
c.97C>A (p.Pro33Thr)
19g.1399176G>ACA504730117GAMTc.411C>T (p.Tyr137=)
c.94C>T
n.244C>T
c.342C>T (p.Tyr114=)
c.96C>T (p.Tyr32=)
 gnomAD v4
19g.1399176G>CCA402995318GAMTc.411C>G (p.Tyr137Ter)
c.94C>G
n.244C>G
c.342C>G (p.Tyr114Ter)
c.96C>G (p.Tyr32Ter)
 ClinVar
19g.1399176G>TCA402995321GAMTc.411C>A (p.Tyr137Ter)
c.94C>A
n.244C>A
c.342C>A (p.Tyr114Ter)
c.96C>A (p.Tyr32Ter)
19g.1399177T>ACA402995327GAMTc.410A>T (p.Tyr137Phe)
c.93A>T
n.243A>T
c.341A>T (p.Tyr114Phe)
c.95A>T (p.Tyr32Phe)
19g.1399177T>CCA402995329GAMTc.410A>G (p.Tyr137Cys)
c.93A>G
n.243A>G
c.341A>G (p.Tyr114Cys)
c.95A>G (p.Tyr32Cys)
19g.1399177T>GCA402995333GAMTc.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
19g.1399177T=CA2317699137GAMTc.410A= (p.Tyr137=)
c.93A=
n.243A=
c.341A= (p.Tyr114=)
c.95A= (p.Tyr32=)
19g.1399178delCA2576548658GAMTc.409del (p.Tyr137ThrfsTer24)
c.92del
n.242del
c.340del (p.Tyr114ThrfsTer24)
c.94del (p.Tyr32ThrfsTer24)
19g.1399178A>CCA402995338GAMTc.409T>G (p.Tyr137Asp)
c.92T>G
n.242T>G
c.340T>G (p.Tyr114Asp)
c.94T>G (p.Tyr32Asp)
19g.1399178A>GCA402995340GAMTc.409T>C (p.Tyr137His)
c.92T>C
n.242T>C
c.340T>C (p.Tyr114His)
c.94T>C (p.Tyr32His)
19g.1399178A>TCA402995343GAMTc.409T>A (p.Tyr137Asn)
c.92T>A
n.242T>A
c.340T>A (p.Tyr114Asn)
c.94T>A (p.Tyr32Asn)
19g.1399179C>ACA504730120GAMTc.408G>T (p.Thr136=)
c.91G>T
n.241G>T
c.339G>T (p.Thr113=)
c.93G>T (p.Thr31=)
 gnomAD v4
19g.1399179C=CA2317699138GAMTc.408G= (p.Thr136=)
c.91G=
n.241G=
c.339G= (p.Thr113=)
c.93G= (p.Thr31=)
19g.1399179C>GCA504730122GAMTc.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
19g.1399179C>TCA9043668GAMTc.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
19g.1399180G>ACA9043669GAMTc.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
19g.1399180G>CCA402995357GAMTc.407C>G (p.Thr136Arg)
c.90C>G
n.240C>G
c.338C>G (p.Thr113Arg)
c.92C>G (p.Thr31Arg)
 dbSNP gnomAD v4
19g.1399180G=CA2317699139GAMTc.407C= (p.Thr136=)
c.90C=
n.240C=
c.338C= (p.Thr113=)
c.92C= (p.Thr31=)
19g.1399180G>TCA9043670GAMTc.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
19g.1399181T>ACA402995360GAMTc.406A>T (p.Thr136Ser)
c.89A>T
n.239A>T
c.337A>T (p.Thr113Ser)
c.91A>T (p.Thr31Ser)
19g.1399181T>CCA402995369GAMTc.406A>G (p.Thr136Ala)
c.89A>G
n.239A>G
c.337A>G (p.Thr113Ala)
c.91A>G (p.Thr31Ala)
 gnomAD v4
19g.1399181T>GCA402995363GAMTc.406A>C (p.Thr136Pro)
c.89A>C
n.239A>C
c.337A>C (p.Thr113Pro)
c.91A>C (p.Thr31Pro)
19g.1399182G>ACA504730125GAMTc.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
19g.1399182G>CCA402995373GAMTc.405C>G (p.Asp135Glu)
c.88C>G
n.238C>G
c.336C>G (p.Asp112Glu)
c.90C>G (p.Asp30Glu)
19g.1399182G=CA2317699140GAMTc.405C= (p.Asp135=)
c.88C=
n.238C=
c.336C= (p.Asp112=)
c.90C= (p.Asp30=)
19g.1399182G>TCA402995375GAMTc.405C>A (p.Asp135Glu)
c.88C>A
n.238C>A
c.336C>A (p.Asp112Glu)
c.90C>A (p.Asp30Glu)
 COSMIC
19g.1399183T>ACA402995379GAMTc.404A>T (p.Asp135Val)
c.87A>T
n.237A>T
c.335A>T (p.Asp112Val)
c.89A>T (p.Asp30Val)
19g.1399183T>CCA402995385GAMTc.404A>G (p.Asp135Gly)
c.87A>G
n.237A>G
c.335A>G (p.Asp112Gly)
c.89A>G (p.Asp30Gly)
 gnomAD v4
19g.1399183T>GCA402995383GAMTc.404A>C (p.Asp135Ala)
c.87A>C
n.237A>C
c.335A>C (p.Asp112Ala)
c.89A>C (p.Asp30Ala)
19g.1399184C>ACA402995388GAMTc.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
19g.1399184C=CA2317699141GAMTc.403G= (p.Asp135=)
c.86G=
n.236G=
c.334G= (p.Asp112=)
c.88G= (p.Asp30=)
19g.1399184C>GCA402995395GAMTc.403G>C (p.Asp135His)
c.86G>C
n.236G>C
c.334G>C (p.Asp112His)
c.88G>C (p.Asp30His)
 ClinVar
19g.1399184C>TCA9043671GAMTc.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
19g.1399185G>ACA9043672GAMTc.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
19g.1399185G>CCA9043673GAMTc.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
19g.1399185G=CA2317699142GAMTc.402C= (p.Tyr134=)
c.85C=
n.235C=
c.333C= (p.Tyr111=)
c.87C= (p.Tyr29=)
19g.1399185G>TCA402995399GAMTc.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
19g.1399186T>ACA402995401GAMTc.401A>T (p.Tyr134Phe)
c.84A>T
n.234A>T
c.332A>T (p.Tyr111Phe)
c.86A>T (p.Tyr29Phe)
19g.1399186T>CCA402995403GAMTc.401A>G (p.Tyr134Cys)
c.84A>G
n.234A>G
c.332A>G (p.Tyr111Cys)
c.86A>G (p.Tyr29Cys)
19g.1399186T>GCA402995405GAMTc.401A>C (p.Tyr134Ser)
c.84A>C
n.234A>C
c.332A>C (p.Tyr111Ser)
c.86A>C (p.Tyr29Ser)
19g.1399187A>CCA402995407GAMTc.400T>G (p.Tyr134Asp)
c.83T>G
n.233T>G
c.331T>G (p.Tyr111Asp)
c.85T>G (p.Tyr29Asp)
19g.1399187A>GCA402995408GAMTc.400T>C (p.Tyr134His)
c.83T>C
n.233T>C
c.331T>C (p.Tyr111His)
c.85T>C (p.Tyr29His)
19g.1399187A>TCA402995410GAMTc.400T>A (p.Tyr134Asn)
c.83T>A
n.233T>A
c.331T>A (p.Tyr111Asn)
c.85T>A (p.Tyr29Asn)
 gnomAD v4
19g.1399188C>ACA504730130GAMTc.399G>T (p.Leu133=)
c.82G>T
n.232G>T
c.330G>T (p.Leu110=)
c.84G>T (p.Leu28=)
 ClinVar dbSNP gnomAD v4
19g.1399188C>GCA504730131GAMTc.399G>C (p.Leu133=)
c.82G>C
n.232G>C
c.330G>C (p.Leu110=)
c.84G>C (p.Leu28=)
19g.1399188C>TCA504730129GAMTc.399G>A (p.Leu133=)
c.82G>A
n.232G>A
c.330G>A (p.Leu110=)
c.84G>A (p.Leu28=)
19g.1399189A>CCA402995413GAMTc.398T>G (p.Leu133Arg)
c.81T>G
n.231T>G
c.329T>G (p.Leu110Arg)
c.83T>G (p.Leu28Arg)
19g.1399189A>GCA402995411GAMTc.398T>C (p.Leu133Pro)
c.81T>C
n.231T>C
c.329T>C (p.Leu110Pro)
c.83T>C (p.Leu28Pro)
19g.1399189A>TCA402995412GAMTc.398T>A (p.Leu133Gln)
c.81T>A
n.231T>A
c.329T>A (p.Leu110Gln)
c.83T>A (p.Leu28Gln)
19g.1399190G>ACA504730134GAMTc.397C>T (p.Leu133=)
c.80C>T
n.230C>T
c.328C>T (p.Leu110=)
c.82C>T (p.Leu28=)
 ClinVar dbSNP
19g.1399190G>CCA402995414GAMTc.397C>G (p.Leu133Val)
c.80C>G
n.230C>G
c.328C>G (p.Leu110Val)
c.82C>G (p.Leu28Val)
19g.1399190G>TCA402995415GAMTc.397C>A (p.Leu133Met)
c.80C>A
n.230C>A
c.328C>A (p.Leu110Met)
c.82C>A (p.Leu28Met)
19g.1399191dupCA2576548659GAMTc.397dup (p.Leu133ProfsTer?)
c.80dup
n.230dup
c.328dup (p.Leu110ProfsTer?)
c.82dup (p.Leu28ProfsTer?)
19g.1399191G>ACA504730136GAMTc.396C>T (p.Ile132=)
c.79C>T
n.229C>T
c.327C>T (p.Ile109=)
c.81C>T (p.Ile27=)
 gnomAD v4
19g.1399191G>CCA402995416GAMTc.396C>G (p.Ile132Met)
c.79C>G
n.229C>G
c.327C>G (p.Ile109Met)
c.81C>G (p.Ile27Met)
19g.1399191G=CA2317699143GAMTc.396C= (p.Ile132=)
c.79C=
n.229C=
c.327C= (p.Ile109=)
c.81C= (p.Ile27=)
19g.1399191G>TCA9043674GAMTc.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
19g.1399192A>CCA402995418GAMTc.395T>G (p.Ile132Ser)
c.78T>G
n.228T>G
c.326T>G (p.Ile109Ser)
c.80T>G (p.Ile27Ser)
19g.1399192A>GCA402995420GAMTc.395T>C (p.Ile132Thr)
c.78T>C
n.228T>C
c.326T>C (p.Ile109Thr)
c.80T>C (p.Ile27Thr)
19g.1399192A>TCA402995424GAMTc.395T>A (p.Ile132Asn)
c.78T>A
n.228T>A
c.326T>A (p.Ile109Asn)
c.80T>A (p.Ile27Asn)
19g.1399193T>ACA402995426GAMTc.394A>T (p.Ile132Phe)
c.77A>T
n.227A>T
c.325A>T (p.Ile109Phe)
c.79A>T (p.Ile27Phe)
19g.1399193T>CCA304066141GAMTc.394A>G (p.Ile132Val)
c.77A>G
n.227A>G
c.325A>G (p.Ile109Val)
c.79A>G (p.Ile27Val)
 dbSNP
19g.1399193T>GCA402995432GAMTc.394A>C (p.Ile132Leu)
c.77A>C
n.227A>C
c.325A>C (p.Ile109Leu)
c.79A>C (p.Ile27Leu)
19g.1399193T=CA2317699144GAMTc.394A= (p.Ile132=)
c.77A=
n.227A=
c.325A= (p.Ile109=)
c.79A= (p.Ile27=)
19g.1399194C>ACA504730140GAMTc.393G>T (p.Gly131=)
c.76G>T
n.226G>T
c.324G>T (p.Gly108=)
c.78G>T (p.Gly26=)
 ClinVar gnomAD v4
19g.1399194C=CA2317699145GAMTc.393G= (p.Gly131=)
c.76G=
n.226G=
c.324G= (p.Gly108=)
c.78G= (p.Gly26=)
19g.1399194C>GCA504730142GAMTc.393G>C (p.Gly131=)
c.76G>C
n.226G>C
c.324G>C (p.Gly108=)
c.78G>C (p.Gly26=)
19g.1399194C>TCA504730143GAMTc.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
19g.1399195C>ACA402995437GAMTc.392G>T (p.Gly131Val)
c.75G>T
n.225G>T
c.323G>T (p.Gly108Val)
c.77G>T (p.Gly26Val)
19g.1399195C=CA2317699146GAMTc.392G= (p.Gly131=)
c.75G=
n.225G=
c.323G= (p.Gly108=)
c.77G= (p.Gly26=)
19g.1399195C>GCA9043675GAMTc.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
19g.1399195C>TCA304066150GAMTc.392G>A (p.Gly131Glu)
c.75G>A
n.225G>A
c.323G>A (p.Gly108Glu)
c.77G>A (p.Gly26Glu)
 dbSNP gnomAD v4
19g.1399196C>ACA402995438GAMTc.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)
19g.1399196C=CA2317699147GAMTc.392-1G= (n.392-1G=)
c.75-1G=
n.225-1G=
c.323-1G= (n.323-1G=)
c.77-1G= (n.77-1G=)
19g.1399196C>GCA402995439GAMTc.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)
19g.1399196C>TCA402995440GAMTc.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
19g.1399197T>ACA402995442GAMTc.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)
19g.1399197T>CCA402995443GAMTc.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
19g.1399197T>GCA402995445GAMTc.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)
19g.1399197T=CA2317699148GAMTc.392-2A= (n.392-2A=)
c.75-2A=
n.225-2A=
c.323-2A= (n.323-2A=)
c.77-2A= (n.77-2A=)
19g.1399198G>CCA2576548660GAMTc.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)
19g.1399198G>TCA2582641099GAMTc.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
19g.1399200A=CA2317699149GAMTc.392-5T= (n.392-5T=)
c.75-5T=
n.225-5T=
c.323-5T= (n.323-5T=)
c.77-5T= (n.77-5T=)
19g.1399200A>CCA2580096069GAMTc.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
19g.1399200A>GCA9043676GAMTc.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
19g.1399201C=CA2317699150GAMTc.392-6G= (n.392-6G=)
c.75-6G=
n.225-6G=
c.323-6G= (n.323-6G=)
c.77-6G= (n.77-6G=)
19g.1399201C>GCA2499225404GAMTc.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
19g.1399201C>TCA9043677GAMTc.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
19g.1399202G>ACA291019GAMTc.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
19g.1399202G=CA2317699151GAMTc.392-7C= (n.392-7C=)
c.75-7C=
n.225-7C=
c.323-7C= (n.323-7C=)
c.77-7C= (n.77-7C=)
19g.1399203G>CCA2582641100GAMTc.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
19g.1399204A=CA2317699152GAMTc.392-9T= (n.392-9T=)
c.75-9T=
n.225-9T=
c.323-9T= (n.323-9T=)
c.77-9T= (n.77-9T=)
19g.1399204A>CCA916083671GAMTc.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
19g.1399204A>GCA2739276353GAMTc.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
19g.1399205G>ACA2576548661GAMTc.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
19g.1399205G>CCA2582641101GAMTc.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
19g.1399206A=CA2317699153GAMTc.392-11T= (n.392-11T=)
c.75-11T=
n.225-11T=
c.323-11T= (n.323-11T=)
c.77-11T= (n.77-11T=)
19g.1399206A>GCA9043678GAMTc.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
19g.1399208C>ACA2697555585GAMTc.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
19g.1399208C>TCA2697555586GAMTc.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
19g.1399211_1399226delCA2581947600GAMTc.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
19g.1399209A>GCA2739276354GAMTc.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
19g.1399210_1399211delCA2697555587GAMTc.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
19g.1399210G>ACA2576548662GAMTc.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
19g.1399212A=CA2317699154GAMTc.392-17T= (n.392-17T=)
c.75-17T=
n.225-17T=
c.323-17T= (n.323-17T=)
c.77-17T= (n.77-17T=)
19g.1399212A>CCA2317699155GAMTc.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
19g.1399212A>GCA2582641102GAMTc.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
19g.1399213G=CA2317699156GAMTc.392-18C= (n.392-18C=)
c.75-18C=
n.225-18C=
c.323-18C= (n.323-18C=)
c.77-18C= (n.77-18C=)
19g.1399214C>ACA304066163GAMTc.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
19g.1399214C=CA2317699157GAMTc.392-19G= (n.392-19G=)
c.75-19G=
n.225-19G=
c.323-19G= (n.323-19G=)
c.77-19G= (n.77-19G=)
19g.1399214C>TCA631044735GAMTc.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
19g.1399216dupCA9043679GAMTc.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
19g.1399216C>ACA2576548663GAMTc.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)
19g.1399218C>ACA304066165GAMTc.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
19g.1399218C=CA2317699158GAMTc.392-23G= (n.392-23G=)
c.75-23G=
n.225-23G=
c.323-23G= (n.323-23G=)
c.77-23G= (n.77-23G=)
19g.1399218C>GCA9043681GAMTc.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
19g.1399218C>TCA9043680GAMTc.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
19g.1399219G>ACA9043682GAMTc.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
19g.1399219G>CCA783506563GAMTc.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
19g.1399219G=CA2317699159GAMTc.392-24C= (n.392-24C=)
c.75-24C=
n.225-24C=
c.323-24C= (n.323-24C=)
c.77-24C= (n.77-24C=)
19g.1399220delCA2576548664GAMTc.392-25del (n.392-25del)
c.75-25del
n.225-25del
c.323-25del (n.323-25del)
c.77-25del (n.77-25del)
19g.1399220C>ACA2576548665GAMTc.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
19g.1399220C=CA2317699161GAMTc.392-25G= (n.392-25G=)
c.75-25G=
n.225-25G=
c.323-25G= (n.323-25G=)
c.77-25G= (n.77-25G=)
19g.1399220C>GCA2582641103GAMTc.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
19g.1399220C>TCA304066169GAMTc.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
19g.1399220_1399232delinsCGGTCAGGGCCGGCA2317699160GAMTc.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)
19g.1399221G>ACA9043684GAMTc.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
19g.1399221G>CCA2582641104GAMTc.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
19g.1399221G=CA2317699162GAMTc.392-26C= (n.392-26C=)
c.75-26C=
n.225-26C=
c.323-26C= (n.323-26C=)
c.77-26C= (n.77-26C=)
19g.1399221G>TCA2582641105GAMTc.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
19g.1399222_1399233delCA9043683GAMTc.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
19g.1399222G>ACA631044736GAMTc.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
19g.1399222G=CA2317699163GAMTc.392-27C= (n.392-27C=)
c.75-27C=
n.225-27C=
c.323-27C= (n.323-27C=)
c.77-27C= (n.77-27C=)
19g.1399223T>CCA2582641106GAMTc.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
19g.1399224C>ACA2582641107GAMTc.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
19g.1399226G>ACA2582641108GAMTc.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
19g.1399228G>ACA2582641109GAMTc.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
19g.1399228G>TCA2576548666GAMTc.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
19g.1399230delCA2582641110GAMTc.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
19g.1399230C=CA2317699164GAMTc.392-35G= (n.392-35G=)
c.75-35G=
n.225-35G=
c.323-35G= (n.323-35G=)
c.77-35G= (n.77-35G=)
19g.1399230C>GCA631044737GAMTc.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
19g.1399230C>TCA9043685GAMTc.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
19g.1399231G>ACA9043686GAMTc.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
19g.1399231G>CCA9043687GAMTc.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
19g.1399231G=CA2317699165GAMTc.392-36C= (n.392-36C=)
c.75-36C=
n.225-36C=
c.323-36C= (n.323-36C=)
c.77-36C= (n.77-36C=)
19g.1399232G>TCA2582641111GAMTc.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
19g.1399235T>GCA2582641112GAMTc.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
19g.1399235_1399247delinsTCAGCGCCTCACCCA2317699166GAMTc.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)
19g.1399236C=CA2317699167GAMTc.392-41G= (n.392-41G=)
c.75-41G=
n.225-41G=
c.323-41G= (n.323-41G=)
c.77-41G= (n.77-41G=)
19g.1399236C>GCA2317699168GAMTc.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
19g.1399236C>TCA2582641113GAMTc.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
19g.1399240_1399251delCA2317699169GAMTc.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
19g.1399238G>CCA2582641114GAMTc.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
19g.1399239C=CA2317699171GAMTc.392-44G= (n.392-44G=)
c.75-44G=
n.225-44G=
c.323-44G= (n.323-44G=)
c.77-44G= (n.77-44G=)
19g.1399239C>TCA9043690GAMTc.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
19g.1399239_1399249delinsCGCCTCACCCACA2317699170GAMTc.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)
19g.1399240G>ACA9043691GAMTc.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
19g.1399240G=CA2317699172GAMTc.392-45C= (n.392-45C=)
c.75-45C=
n.225-45C=
c.323-45C= (n.323-45C=)
c.77-45C= (n.77-45C=)
19g.1399240G>TCA2582641115GAMTc.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
19g.1399249_1399258dupCA9043688GAMTc.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
19g.1399249_1399258delCA9043689GAMTc.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
19g.1399242C>TCA2582641116GAMTc.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
19g.1399243T>CCA2582641117GAMTc.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
19g.1399244C>TCA2582641118GAMTc.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
19g.1399245A=CA2317699173GAMTc.392-50T= (n.392-50T=)
c.75-50T=
n.225-50T=
c.323-50T= (n.323-50T=)
c.77-50T= (n.77-50T=)
19g.1399245A>CCA9043692GAMTc.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
19g.1399245A>GCA2581947601GAMTc.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
19g.1399245A>TCA2576548667GAMTc.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)
19g.1399246C>ACA2813256020GAMTc.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)
19g.1399246C>TCA2581947602GAMTc.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
19g.1399248C>GCA2582641119GAMTc.392-53G>C (n.392-53G>C)
c.75-53G>C
n.225-53G>C
c.323-53G>C (n.323-53G>C)
c.77-53G>C (n.77-53G>C)
 gnomAD v4
19g.1399248C>TCA2582641120GAMTc.392-53G>A (n.392-53G>A)
c.75-53G>A
n.225-53G>A
c.323-53G>A (n.323-53G>A)
c.77-53G>A (n.77-53G>A)
 gnomAD v4

Number of alleles fetched