Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24301659G>CCA2770324935DCDC2c.557+56C>G (n.557+56C>G)
6g.24301659G>TCA2677515256DCDC2c.557+56C>A (n.557+56C>A)
gnomAD v4
6g.24301661G>TCA2677515257DCDC2c.557+54C>A (n.557+54C>A)
gnomAD v4
6g.24301662A>GCA2770324936DCDC2c.557+53T>C (n.557+53T>C)
6g.24301663A=CA1616409135DCDC2c.557+52T= (n.557+52T=)
6g.24301663A>CCA1616409136DCDC2c.557+52T>G (n.557+52T>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301663A>GCA2677515258DCDC2c.557+52T>C (n.557+52T>C)
gnomAD v4
6g.24301664T>CCA823297374DCDC2c.557+51A>G (n.557+51A>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301664T=CA1616409137DCDC2c.557+51A= (n.557+51A=)
6g.24301666T>ACA566291296DCDC2c.557+49A>T (n.557+49A>T)
dbSNP gnomAD v2 gnomAD v4
6g.24301666T=CA1616409139DCDC2c.557+49A= (n.557+49A=)
6g.24301667C>ACA2677515259DCDC2c.557+48G>T (n.557+48G>T)
gnomAD v4
6g.24301667C=CA1616409141DCDC2c.557+48G= (n.557+48G=)
6g.24301667C>TCA3654724DCDC2c.557+48G>A (n.557+48G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301668T>CCA2677515260DCDC2c.557+47A>G (n.557+47A>G)
gnomAD v4
6g.24301670C>TCA2677515261DCDC2c.557+45G>A (n.557+45G>A)
gnomAD v4
6g.24301671A=CA1616409145DCDC2c.557+44T= (n.557+44T=)
6g.24301671A>CCA823297390DCDC2c.557+44T>G (n.557+44T>G)
dbSNP gnomAD v4
6g.24301671A>GCA2677515262DCDC2c.557+44T>C (n.557+44T>C)
gnomAD v4
6g.24301672A=CA1616409147DCDC2c.557+43T= (n.557+43T=)
6g.24301672A>GCA566291297DCDC2c.557+43T>C (n.557+43T>C)
dbSNP gnomAD v2 gnomAD v4
6g.24301673C>GCA2677515263DCDC2c.557+42G>C (n.557+42G>C)
gnomAD v4
6g.24301674A=CA1616409150DCDC2c.557+41T= (n.557+41T=)
6g.24301674A>CCA823297400DCDC2c.557+41T>G (n.557+41T>G)
dbSNP gnomAD v3 gnomAD v4
6g.24301674A>GCA136637322DCDC2c.557+41T>C (n.557+41T>C)
dbSNP gnomAD v3 gnomAD v4
6g.24301675A=CA1616409152DCDC2c.557+40T= (n.557+40T=)
6g.24301675A>GCA3654725DCDC2c.557+40T>C (n.557+40T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301675A>TCA2740728167DCDC2c.557+40T>A (n.557+40T>A)
6g.24301675_24301676delinsATCA1616409153DCDC2c.557+39_557+40delinsAT (n.557+39_557+40delinsAT)
6g.24301676T>CCA2677515264DCDC2c.557+39A>G (n.557+39A>G)
gnomAD v4
6g.24301677delCA1616409154DCDC2c.557+39del (n.557+39del)
dbSNP
6g.24301677T>CCA136637323DCDC2c.557+38A>G (n.557+38A>G)
dbSNP gnomAD v4
6g.24301677T=CA1616409157DCDC2c.557+38A= (n.557+38A=)
6g.24301678C>ACA2677515265DCDC2c.557+37G>T (n.557+37G>T)
gnomAD v4
6g.24301678C=CA1616409162DCDC2c.557+37G= (n.557+37G=)
6g.24301678C>TCA1616409163DCDC2c.557+37G>A (n.557+37G>A)
dbSNP
6g.24301681A>CCA2677515266DCDC2c.557+34T>G (n.557+34T>G)
gnomAD v4
6g.24301681A>TCA2677515267DCDC2c.557+34T>A (n.557+34T>A)
gnomAD v4
6g.24301682A>CCA2677515268DCDC2c.557+33T>G (n.557+33T>G)
gnomAD v4
6g.24301683_24301686delinsACTCCA1616409165DCDC2c.557+29_557+32delinsGAGT (n.557+29_557+32delinsGAGT)
6g.24301684C=CA1616409174DCDC2c.557+31G= (n.557+31G=)
6g.24301684C>TCA3654727DCDC2c.557+31G>A (n.557+31G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301688_24301690delCA3654726DCDC2c.557+29_557+31del (n.557+29_557+31del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301686C=CA1616409177DCDC2c.557+29G= (n.557+29G=)
6g.24301686C>TCA1616409178DCDC2c.557+29G>A (n.557+29G>A)
dbSNP gnomAD v4
6g.24301687C>ACA2677515269DCDC2c.557+28G>T (n.557+28G>T)
gnomAD v4
6g.24301688T>CCA1616409180DCDC2c.557+27A>G (n.557+27A>G)
dbSNP gnomAD v4
6g.24301688T=CA1616409179DCDC2c.557+27A= (n.557+27A=)
6g.24301689C=CA1616409182DCDC2c.557+26G= (n.557+26G=)
6g.24301689C>TCA566291298DCDC2c.557+26G>A (n.557+26G>A)
dbSNP gnomAD v2 gnomAD v4
6g.24301692C>TCA2677515270DCDC2c.557+23G>A (n.557+23G>A)
gnomAD v4
6g.24301694T>CCA2677515271DCDC2c.557+21A>G (n.557+21A>G)
gnomAD v4
6g.24301695A=CA1616409184DCDC2c.557+20T= (n.557+20T=)
6g.24301695A>TCA1616409185DCDC2c.557+20T>A (n.557+20T>A)
dbSNP gnomAD v4
6g.24301696C>ACA566291299DCDC2c.557+19G>T (n.557+19G>T)
dbSNP gnomAD v2 gnomAD v4
6g.24301696C=CA1616409187DCDC2c.557+19G= (n.557+19G=)
6g.24301697A=CA1616409194DCDC2c.557+18T= (n.557+18T=)
6g.24301697A>GCA3654728DCDC2c.557+18T>C (n.557+18T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301699G>ACA566291300DCDC2c.557+16C>T (n.557+16C>T)
dbSNP gnomAD v2 gnomAD v4
6g.24301699G=CA1616409199DCDC2c.557+16C= (n.557+16C=)
6g.24301700A=CA1616409201DCDC2c.557+15T= (n.557+15T=)
6g.24301700A>TCA915276568DCDC2c.557+15T>A (n.557+15T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301701T>CCA3654729DCDC2c.557+14A>G (n.557+14A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301701T=CA1616409204DCDC2c.557+14A= (n.557+14A=)
6g.24301705T>CCA2677515272DCDC2c.557+10A>G (n.557+10A>G)
gnomAD v4
6g.24301706T>ACA1616409207DCDC2c.557+9A>T (n.557+9A>T)
dbSNP
6g.24301706T>CCA2770324937DCDC2c.557+9A>G (n.557+9A>G)
6g.24301706T=CA1616409206DCDC2c.557+9A= (n.557+9A=)
6g.24301708G>TCA2677515273DCDC2c.557+7C>A (n.557+7C>A)
gnomAD v4
6g.24301709A>GCA2578541691DCDC2c.557+6T>C (n.557+6T>C)
6g.24301711A>CCA2677515274DCDC2c.557+4T>G (n.557+4T>G)
gnomAD v4
6g.24301712T>CCA2677515275DCDC2c.557+3A>G (n.557+3A>G)
gnomAD v4
6g.24301713A>CCA363280881DCDC2c.557+2T>G (n.557+2T>G)
6g.24301713A>GCA363280882DCDC2c.557+2T>C (n.557+2T>C)
6g.24301713A>TCA363280883DCDC2c.557+2T>A (n.557+2T>A)
6g.24301714C>ACA363280885DCDC2c.557+1G>T (n.557+1G>T)
ClinVar dbSNP
6g.24301714C=CA1616409211DCDC2c.557+1G= (n.557+1G=)
6g.24301714C>GCA363280884DCDC2c.557+1G>C (n.557+1G>C)
dbSNP
6g.24301714C>TCA3654730DCDC2c.557+1G>A (n.557+1G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301715C>ACA363280886DCDC2c.557G>T (p.Arg186Met)
6g.24301715C=CA1616409231DCDC2c.557G= (p.Arg186=)
6g.24301715C>GCA363280887DCDC2c.557G>C (p.Arg186Thr)
dbSNP
6g.24301715C>TCA363280888DCDC2c.557G>A (p.Arg186Lys)
6g.24301715_24301718dupCA566291301DCDC2c.554_557dup (p.Leu187GlnfsTer11)
dbSNP gnomAD v2 gnomAD v4
6g.24301718_24301849delCA645294039DCDC2c.426_557del
ClinVar
6g.24301716T>ACA363280889DCDC2c.556A>T (p.Arg186Trp)
gnomAD v4
6g.24301716T>CCA3654731DCDC2c.556A>G (p.Arg186Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301716T>GCA448951318DCDC2c.556A>C (p.Arg186=)
6g.24301716T=CA1616409239DCDC2c.556A= (p.Arg186=)
6g.24301717G>ACA448951319DCDC2c.555C>T (p.His185=)
ClinVar gnomAD v4
6g.24301717G>CCA363280890DCDC2c.555C>G (p.His185Gln)
6g.24301717G>TCA363280891DCDC2c.555C>A (p.His185Gln)
6g.24301718T>ACA363280892DCDC2c.554A>T (p.His185Leu)
6g.24301718T>CCA363280893DCDC2c.554A>G (p.His185Arg)
6g.24301718T>GCA363280894DCDC2c.554A>C (p.His185Pro)
6g.24301719G>ACA363280895DCDC2c.553C>T (p.His185Tyr)
gnomAD v4
6g.24301719G>CCA363280896DCDC2c.553C>G (p.His185Asp)
6g.24301719G>TCA363280897DCDC2c.553C>A (p.His185Asn)
6g.24301720A>CCA448951322DCDC2c.552T>G (p.Val184=)
6g.24301720A>GCA448951320DCDC2c.552T>C (p.Val184=)
6g.24301720A>TCA448951321DCDC2c.552T>A (p.Val184=)
6g.24301721A>CCA363280899DCDC2c.551T>G (p.Val184Gly)
6g.24301721A>GCA363280900DCDC2c.551T>C (p.Val184Ala)
gnomAD v4
6g.24301721A>TCA363280898DCDC2c.551T>A (p.Val184Asp)
6g.24301722C>ACA363280901DCDC2c.550G>T (p.Val184Phe)
6g.24301722C=CA1616409243DCDC2c.550G= (p.Val184=)
6g.24301722C>GCA363280902DCDC2c.550G>C (p.Val184Leu)
6g.24301722C>TCA363280903DCDC2c.550G>A (p.Val184Ile)
6g.24301723A=CA1616409254DCDC2c.549T= (p.Ala183=)
6g.24301723A>CCA448951323DCDC2c.549T>G (p.Ala183=)
6g.24301723A>GCA448951324DCDC2c.549T>C (p.Ala183=)
6g.24301723A>TCA448951325DCDC2c.549T>A (p.Ala183=)
dbSNP gnomAD v2 gnomAD v4
6g.24301723dupCA915944161DCDC2c.549dup (p.Val184CysfsTer13)
ClinVar dbSNP
6g.24301724G>ACA363280904DCDC2c.548C>T (p.Ala183Val)
gnomAD v4
6g.24301724G>CCA363280905DCDC2c.548C>G (p.Ala183Gly)
6g.24301724G>TCA363280906DCDC2c.548C>A (p.Ala183Asp)
6g.24301725C>ACA363280907DCDC2c.547G>T (p.Ala183Ser)
6g.24301725C>GCA363280908DCDC2c.547G>C (p.Ala183Pro)
6g.24301725C>TCA363280909DCDC2c.547G>A (p.Ala183Thr)
gnomAD v4
6g.24301728delCA2677515276DCDC2c.547del (p.Ala183LeufsTer8)
gnomAD v4
6g.24301726C>ACA448951326DCDC2c.546G>T (p.Gly182=)
6g.24301726C>GCA448951327DCDC2c.546G>C (p.Gly182=)
6g.24301726C>TCA448951328DCDC2c.546G>A (p.Gly182=)
gnomAD v4
6g.24301727C>ACA363280910DCDC2c.545G>T (p.Gly182Val)
6g.24301727C>GCA363280911DCDC2c.545G>C (p.Gly182Ala)
COSMIC
6g.24301727C>TCA363280912DCDC2c.545G>A (p.Gly182Glu)
6g.24301728C>ACA363280914DCDC2c.544G>T (p.Gly182Trp)
6g.24301728C=CA1616409263DCDC2c.544G= (p.Gly182=)
6g.24301728C>GCA363280913DCDC2c.544G>C (p.Gly182Arg)
6g.24301728C>TCA3654732DCDC2c.544G>A (p.Gly182Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24301729G>ACA3654734DCDC2c.543C>T (p.Ser181=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301729G>CCA363280915DCDC2c.543C>G (p.Ser181Arg)
dbSNP
6g.24301729G=CA1616409269DCDC2c.543C= (p.Ser181=)
6g.24301729G>TCA3654733DCDC2c.543C>A (p.Ser181Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301730C>ACA363280916DCDC2c.542G>T (p.Ser181Ile)
gnomAD v4
6g.24301730C>GCA363280917DCDC2c.542G>C (p.Ser181Thr)
6g.24301730C>TCA363280918DCDC2c.542G>A (p.Ser181Asn)
gnomAD v4
6g.24301731T>ACA363280919DCDC2c.541A>T (p.Ser181Cys)
6g.24301731T>CCA363280920DCDC2c.541A>G (p.Ser181Gly)
6g.24301731T>GCA363280921DCDC2c.541A>C (p.Ser181Arg)
6g.24301732C>ACA363280922DCDC2c.540G>T (p.Arg180Ser)
6g.24301732C=CA1616409278DCDC2c.540G= (p.Arg180=)
6g.24301732C>GCA363280923DCDC2c.540G>C (p.Arg180Ser)
dbSNP
6g.24301732C>TCA448951331DCDC2c.540G>A (p.Arg180=)
dbSNP gnomAD v4
6g.24301733C>ACA363280926DCDC2c.539G>T (p.Arg180Met)
6g.24301733C>GCA363280925DCDC2c.539G>C (p.Arg180Thr)
6g.24301733C>TCA363280924DCDC2c.539G>A (p.Arg180Lys)
6g.24301734T>ACA363280927DCDC2c.538A>T (p.Arg180Trp)
6g.24301734T>CCA363280928DCDC2c.538A>G (p.Arg180Gly)
gnomAD v4
6g.24301734T>GCA448951332DCDC2c.538A>C (p.Arg180=)
6g.24301735C>ACA448951333DCDC2c.537G>T (p.Leu179=)
COSMIC
6g.24301735C>GCA448951334DCDC2c.537G>C (p.Leu179=)
6g.24301735C>TCA448951335DCDC2c.537G>A (p.Leu179=)
6g.24301735_24301736delCA2573140144DCDC2c.536_537del (p.Leu179GlnfsTer17)
ClinVar dbSNP
6g.24301736A=CA1616409290DCDC2c.536T= (p.Leu179=)
6g.24301736A>CCA3654735DCDC2c.536T>G (p.Leu179Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301736A>GCA363280929DCDC2c.536T>C (p.Leu179Pro)
dbSNP
6g.24301736A>TCA363280930DCDC2c.536T>A (p.Leu179Gln)
6g.24301737G>ACA448951336DCDC2c.535C>T (p.Leu179=)
gnomAD v4
6g.24301737G>CCA363280931DCDC2c.535C>G (p.Leu179Val)
6g.24301737G>TCA363280932DCDC2c.535C>A (p.Leu179Met)
6g.24301738A>CCA448951337DCDC2c.534T>G (p.Thr178=)
6g.24301738A>GCA448951338DCDC2c.534T>C (p.Thr178=)
6g.24301738A>TCA448951339DCDC2c.534T>A (p.Thr178=)
6g.24301739G>ACA363280933DCDC2c.533C>T (p.Thr178Ile)
6g.24301739G>CCA363280934DCDC2c.533C>G (p.Thr178Ser)
6g.24301739G>TCA363280935DCDC2c.533C>A (p.Thr178Asn)
6g.24301740T>ACA363280936DCDC2c.532A>T (p.Thr178Ser)
6g.24301740T>CCA363280937DCDC2c.532A>G (p.Thr178Ala)
6g.24301740T>GCA363280938DCDC2c.532A>C (p.Thr178Pro)
6g.24301741G>ACA448951341DCDC2c.531C>T (p.Ile177=)
gnomAD v4
6g.24301741G>CCA363280939DCDC2c.531C>G (p.Ile177Met)
6g.24301741G>TCA448951340DCDC2c.531C>A (p.Ile177=)
6g.24301742A>CCA363280942DCDC2c.530T>G (p.Ile177Ser)
6g.24301742A>GCA363280940DCDC2c.530T>C (p.Ile177Thr)
6g.24301742A>TCA363280941DCDC2c.530T>A (p.Ile177Asn)
6g.24301742_24301743delinsATCA1616409297DCDC2c.529_530delinsAT (p.Ile177=)
6g.24301743T>ACA363280943DCDC2c.529A>T (p.Ile177Phe)
6g.24301743T>CCA363280944DCDC2c.529A>G (p.Ile177Val)
gnomAD v4
6g.24301743T>GCA3654736DCDC2c.529A>C (p.Ile177Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301743T=CA1616409307DCDC2c.529A= (p.Ile177=)
6g.24301748dupCA136637324DCDC2c.529dup (p.Ile177AsnfsTer20)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301748delCA823297490DCDC2c.529del (p.Ile177SerfsTer3)
dbSNP
6g.24301744T>ACA363280945DCDC2c.528A>T (p.Lys176Asn)
6g.24301744T>CCA3654737DCDC2c.528A>G (p.Lys176=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301744T>GCA363280946DCDC2c.528A>C (p.Lys176Asn)
6g.24301744T=CA1616409314DCDC2c.528A= (p.Lys176=)
6g.24301745T>ACA363280947DCDC2c.527A>T (p.Lys176Ile)
6g.24301745T>CCA363280948DCDC2c.527A>G (p.Lys176Arg)
6g.24301745T>GCA363280949DCDC2c.527A>C (p.Lys176Thr)
6g.24301746T>ACA363280950DCDC2c.526A>T (p.Lys176Ter)
6g.24301746T>CCA363280951DCDC2c.526A>G (p.Lys176Glu)
gnomAD v4
6g.24301746T>GCA363280952DCDC2c.526A>C (p.Lys176Gln)
6g.24301747T>ACA363280954DCDC2c.525A>T (p.Glu175Asp)
6g.24301747T>CCA448951342DCDC2c.525A>G (p.Glu175=)
6g.24301747T>GCA363280953DCDC2c.525A>C (p.Glu175Asp)
6g.24301748T>ACA363280955DCDC2c.524A>T (p.Glu175Val)
6g.24301748T>CCA363280956DCDC2c.524A>G (p.Glu175Gly)
6g.24301748T>GCA363280957DCDC2c.524A>C (p.Glu175Ala)
6g.24301749C>ACA363280958DCDC2c.523G>T (p.Glu175Ter)
6g.24301749C>GCA363280959DCDC2c.523G>C (p.Glu175Gln)
6g.24301749C>TCA363280960DCDC2c.523G>A (p.Glu175Lys)
6g.24301750T>ACA448951345DCDC2c.522A>T (p.Thr174=)
6g.24301750T>CCA448951344DCDC2c.522A>G (p.Thr174=)
dbSNP gnomAD v2 gnomAD v4
6g.24301750T>GCA448951343DCDC2c.522A>C (p.Thr174=)
6g.24301750T=CA1616409318DCDC2c.522A= (p.Thr174=)
6g.24301751G>ACA363280961DCDC2c.521C>T (p.Thr174Ile)
dbSNP gnomAD v2 gnomAD v4
6g.24301751G>CCA363280962DCDC2c.521C>G (p.Thr174Arg)
6g.24301751G=CA1616409324DCDC2c.521C= (p.Thr174=)
6g.24301751G>TCA363280963DCDC2c.521C>A (p.Thr174Lys)
6g.24301752T>ACA363280964DCDC2c.520A>T (p.Thr174Ser)
6g.24301752T>CCA363280965DCDC2c.520A>G (p.Thr174Ala)
6g.24301752T>GCA363280966DCDC2c.520A>C (p.Thr174Pro)
6g.24301753G>ACA448951346DCDC2c.519C>T (p.Val173=)
dbSNP
6g.24301753G>CCA448951348DCDC2c.519C>G (p.Val173=)
dbSNP gnomAD v2 gnomAD v4
6g.24301753G=CA1616409332DCDC2c.519C= (p.Val173=)
6g.24301753G>TCA448951347DCDC2c.519C>A (p.Val173=)
6g.24301754A>CCA363280968DCDC2c.518T>G (p.Val173Gly)
6g.24301754A>GCA363280969DCDC2c.518T>C (p.Val173Ala)
COSMIC
6g.24301754A>TCA363280967DCDC2c.518T>A (p.Val173Asp)
6g.24301755C>ACA363280970DCDC2c.517G>T (p.Val173Phe)
6g.24301755C>GCA363280971DCDC2c.517G>C (p.Val173Leu)
6g.24301755C>TCA363280972DCDC2c.517G>A (p.Val173Ile)
6g.24301756C>ACA363280973DCDC2c.516G>T (p.Met172Ile)
6g.24301756C>GCA363280974DCDC2c.516G>C (p.Met172Ile)
6g.24301756C>TCA363280975DCDC2c.516G>A (p.Met172Ile)
6g.24301757A>CCA363280976DCDC2c.515T>G (p.Met172Arg)
gnomAD v4
6g.24301757A>GCA363280978DCDC2c.515T>C (p.Met172Thr)
gnomAD v4
6g.24301757A>TCA363280977DCDC2c.515T>A (p.Met172Lys)
6g.24301758T>ACA363280979DCDC2c.514A>T (p.Met172Leu)
6g.24301758T>CCA363280980DCDC2c.514A>G (p.Met172Val)
6g.24301758T>GCA363280981DCDC2c.514A>C (p.Met172Leu)
gnomAD v4
6g.24301759T>ACA363280982DCDC2c.513A>T (p.Gln171His)
6g.24301759T>CCA448951349DCDC2c.513A>G (p.Gln171=)
gnomAD v4
6g.24301759T>GCA363280983DCDC2c.513A>C (p.Gln171His)

Number of alleles fetched