Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
6g.24301760T>ACA363280985DCDC2c.512A>T (p.Gln171Leu)
6g.24301760T>CCA363280986DCDC2c.512A>G (p.Gln171Arg)
6g.24301760T>GCA363280984DCDC2c.512A>C (p.Gln171Pro)
6g.24301761G>ACA363280989DCDC2c.511C>T (p.Gln171Ter)
gnomAD v4
6g.24301761G>CCA363280987DCDC2c.511C>G (p.Gln171Glu)
6g.24301761G>TCA363280988DCDC2c.511C>A (p.Gln171Lys)
6g.24301762T>ACA448951350DCDC2c.510A>T (p.Leu170=)
6g.24301762T>CCA3654738DCDC2c.510A>G (p.Leu170=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301762T>GCA448951351DCDC2c.510A>C (p.Leu170=)
6g.24301762T=CA1616409340DCDC2c.510A= (p.Leu170=)
6g.24301763A>CCA363280990DCDC2c.509T>G (p.Leu170Arg)
6g.24301763A>GCA363280991DCDC2c.509T>C (p.Leu170Pro)
6g.24301763A>TCA363280992DCDC2c.509T>A (p.Leu170Gln)
6g.24301764G>ACA448951352DCDC2c.508C>T (p.Leu170=)
dbSNP gnomAD v3 gnomAD v4
6g.24301764G>CCA363280993DCDC2c.508C>G (p.Leu170Val)
gnomAD v4
6g.24301764G=CA1616409358DCDC2c.508C= (p.Leu170=)
6g.24301764G>TCA363280994DCDC2c.508C>A (p.Leu170Ile)
6g.24301765T>ACA448951353DCDC2c.507A>T (p.Val169=)
6g.24301765T>CCA448951354DCDC2c.507A>G (p.Val169=)
gnomAD v4
6g.24301765T>GCA448951355DCDC2c.507A>C (p.Val169=)
6g.24301766A>CCA363280995DCDC2c.506T>G (p.Val169Gly)
6g.24301766A>GCA363280996DCDC2c.506T>C (p.Val169Ala)
6g.24301766A>TCA363280997DCDC2c.506T>A (p.Val169Glu)
6g.24301767C>ACA363280998DCDC2c.505G>T (p.Val169Leu)
6g.24301767C=CA1616409364DCDC2c.505G= (p.Val169=)
6g.24301767C>GCA363280999DCDC2c.505G>C (p.Val169Leu)
6g.24301767C>TCA136637325DCDC2c.505G>A (p.Val169Ile)
dbSNP gnomAD v3 gnomAD v4
6g.24301768A=CA1616409369DCDC2c.504T= (p.His168=)
6g.24301768A>CCA363281001DCDC2c.504T>G (p.His168Gln)
6g.24301768A>GCA448951356DCDC2c.504T>C (p.His168=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301768A>TCA363281000DCDC2c.504T>A (p.His168Gln)
6g.24301769T>ACA363281002DCDC2c.503A>T (p.His168Leu)
6g.24301769T>CCA363281003DCDC2c.503A>G (p.His168Arg)
gnomAD v4
6g.24301769T>GCA363281004DCDC2c.503A>C (p.His168Pro)
6g.24301770G>ACA3654739DCDC2c.502C>T (p.His168Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301770G>CCA363281005DCDC2c.502C>G (p.His168Asp)
6g.24301770G=CA1616409377DCDC2c.502C= (p.His168=)
6g.24301770G>TCA363281006DCDC2c.502C>A (p.His168Asn)
6g.24301771A>CCA363281008DCDC2c.501T>G (p.Asp167Glu)
6g.24301771A>GCA448951357DCDC2c.501T>C (p.Asp167=)
6g.24301771A>TCA363281007DCDC2c.501T>A (p.Asp167Glu)
6g.24301772T>ACA363281009DCDC2c.500A>T (p.Asp167Val)
6g.24301772T>CCA363281010DCDC2c.500A>G (p.Asp167Gly)
6g.24301772T>GCA363281011DCDC2c.500A>C (p.Asp167Ala)
6g.24301773C>ACA363281012DCDC2c.499G>T (p.Asp167Tyr)
ClinVar
6g.24301773C>GCA363281013DCDC2c.499G>C (p.Asp167His)
6g.24301773C>TCA363281014DCDC2c.499G>A (p.Asp167Asn)
COSMIC
6g.24301774C>ACA363281015DCDC2c.498G>T (p.Trp166Cys)
COSMIC
6g.24301774C>GCA363281017DCDC2c.498G>C (p.Trp166Cys)
gnomAD v4
6g.24301774C>TCA363281016DCDC2c.498G>A (p.Trp166Ter)
6g.24301775C>ACA363281018DCDC2c.497G>T (p.Trp166Leu)
COSMIC
6g.24301775C=CA1616409388DCDC2c.497G= (p.Trp166=)
6g.24301775C>GCA363281019DCDC2c.497G>C (p.Trp166Ser)
6g.24301775C>TCA3654740DCDC2c.497G>A (p.Trp166Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24301776A>CCA363281020DCDC2c.496T>G (p.Trp166Gly)
6g.24301776A>GCA363281021DCDC2c.496T>C (p.Trp166Arg)
6g.24301776A>TCA363281022DCDC2c.496T>A (p.Trp166Arg)
6g.24301777C>ACA363281023DCDC2c.495G>T (p.Gln165His)
6g.24301777C=CA1616409392DCDC2c.495G= (p.Gln165=)
6g.24301777C>GCA363281024DCDC2c.495G>C (p.Gln165His)
6g.24301777C>TCA448951358DCDC2c.495G>A (p.Gln165=)
dbSNP gnomAD v4
6g.24301778T>ACA363281025DCDC2c.494A>T (p.Gln165Leu)
6g.24301778T>CCA363281026DCDC2c.494A>G (p.Gln165Arg)
dbSNP
6g.24301778T>GCA363281027DCDC2c.494A>C (p.Gln165Pro)
6g.24301778T=CA1616409394DCDC2c.494A= (p.Gln165=)
6g.24301779G>ACA363281030DCDC2c.493C>T (p.Gln165Ter)
6g.24301779G>CCA363281029DCDC2c.493C>G (p.Gln165Glu)
dbSNP
6g.24301779G=CA1616409398DCDC2c.493C= (p.Gln165=)
6g.24301779G>TCA363281028DCDC2c.493C>A (p.Gln165Lys)
6g.24301780A=CA1616409403DCDC2c.492T= (p.Asn164=)
6g.24301780A>CCA363281031DCDC2c.492T>G (p.Asn164Lys)
6g.24301780A>GCA448951359DCDC2c.492T>C (p.Asn164=)
dbSNP gnomAD v2 gnomAD v4
6g.24301780A>TCA363281032DCDC2c.492T>A (p.Asn164Lys)
6g.24301781T>ACA363281033DCDC2c.491A>T (p.Asn164Ile)
6g.24301781T>CCA136637326DCDC2c.491A>G (p.Asn164Ser)
dbSNP gnomAD v4
6g.24301781T>GCA363281034DCDC2c.491A>C (p.Asn164Thr)
6g.24301781T=CA1616409409DCDC2c.491A= (p.Asn164=)
6g.24301783_24301791dupCA823297591DCDC2c.483_491dup (p.Leu163_Asn164insLysThrLeu)
dbSNP
6g.24301782T>ACA363281035DCDC2c.490A>T (p.Asn164Tyr)
6g.24301782T>CCA363281036DCDC2c.490A>G (p.Asn164Asp)
6g.24301782T>GCA363281037DCDC2c.490A>C (p.Asn164His)
6g.24301783C>ACA363281038DCDC2c.489G>T (p.Leu163Phe)
6g.24301783C>GCA363281039DCDC2c.489G>C (p.Leu163Phe)
6g.24301783C>TCA448951360DCDC2c.489G>A (p.Leu163=)
6g.24301784A>CCA363281040DCDC2c.488T>G (p.Leu163Trp)
6g.24301784A>GCA363281041DCDC2c.488T>C (p.Leu163Ser)
6g.24301784A>TCA363281042DCDC2c.488T>A (p.Leu163Ter)
6g.24301785A=CA1616409413DCDC2c.487T= (p.Leu163=)
6g.24301785A>CCA363281044DCDC2c.487T>G (p.Leu163Val)
6g.24301785A>GCA448951361DCDC2c.487T>C (p.Leu163=)
dbSNP gnomAD v3 gnomAD v4
6g.24301785A>TCA363281043DCDC2c.487T>A (p.Leu163Met)
6g.24301786G>ACA448951362DCDC2c.486C>T (p.Thr162=)
6g.24301786G>CCA3654741DCDC2c.486C>G (p.Thr162=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301786G=CA1616409417DCDC2c.486C= (p.Thr162=)
6g.24301786G>TCA448951363DCDC2c.486C>A (p.Thr162=)
dbSNP gnomAD v2 gnomAD v4
6g.24301787G>ACA363281045DCDC2c.485C>T (p.Thr162Ile)
6g.24301787G>CCA363281046DCDC2c.485C>G (p.Thr162Ser)
6g.24301787G=CA1616409421DCDC2c.485C= (p.Thr162=)
6g.24301787G>TCA363281047DCDC2c.485C>A (p.Thr162Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301788T>ACA363281048DCDC2c.484A>T (p.Thr162Ser)
6g.24301788T>CCA363281049DCDC2c.484A>G (p.Thr162Ala)
6g.24301788T>GCA363281050DCDC2c.484A>C (p.Thr162Pro)
6g.24301789T>ACA363281051DCDC2c.483A>T (p.Lys161Asn)
6g.24301789T>CCA448951364DCDC2c.483A>G (p.Lys161=)
gnomAD v4
6g.24301789T>GCA363281052DCDC2c.483A>C (p.Lys161Asn)
6g.24301790T>ACA363281053DCDC2c.482A>T (p.Lys161Ile)
6g.24301790T>CCA363281054DCDC2c.482A>G (p.Lys161Arg)
6g.24301790T>GCA363281055DCDC2c.482A>C (p.Lys161Thr)
6g.24301791T>ACA363281056DCDC2c.481A>T (p.Lys161Ter)
6g.24301791T>CCA363281057DCDC2c.481A>G (p.Lys161Glu)
6g.24301791T>GCA363281058DCDC2c.481A>C (p.Lys161Gln)
dbSNP gnomAD v2 gnomAD v4
6g.24301791T=CA1616409422DCDC2c.481A= (p.Lys161=)
6g.24301792T>ACA363281060DCDC2c.480A>T (p.Arg160Ser)
6g.24301792T>CCA448951365DCDC2c.480A>G (p.Arg160=)
6g.24301792T>GCA363281059DCDC2c.480A>C (p.Arg160Ser)
6g.24301793C>ACA363281061DCDC2c.479G>T (p.Arg160Ile)
6g.24301793C>GCA363281062DCDC2c.479G>C (p.Arg160Thr)
6g.24301793C>TCA363281063DCDC2c.479G>A (p.Arg160Lys)
6g.24301794T>ACA363281064DCDC2c.478A>T (p.Arg160Ter)
6g.24301794T>CCA363281065DCDC2c.478A>G (p.Arg160Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24301794T>GCA3654742DCDC2c.478A>C (p.Arg160=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24301794T=CA1616409430DCDC2c.478A= (p.Arg160=)
6g.24301795G>ACA448951366DCDC2c.477C>T (p.Pro159=)
gnomAD v4
6g.24301795G>CCA448951367DCDC2c.477C>G (p.Pro159=)
6g.24301795G>TCA448951368DCDC2c.477C>A (p.Pro159=)
6g.24301795_24301798dupCA2677515277DCDC2c.474_477dup (p.Arg160ProfsTer?)
gnomAD v4

Number of alleles fetched