Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.191375392A>CCA355764464CCDC50c.779A>C (p.His260Pro)
c.449-4767A>C (n.449-4767A>C)
gnomAD v4
3g.191375392A>GCA355764465CCDC50c.779A>G (p.His260Arg)
c.449-4767A>G (n.449-4767A>G)
gnomAD v4
3g.191375392A>TCA355764466CCDC50c.779A>T (p.His260Leu)
c.449-4767A>T (n.449-4767A>T)
3g.191375393T>ACA355764467CCDC50c.780T>A (p.His260Gln)
c.449-4766T>A (n.449-4766T>A)
3g.191375393T>CCA437637976CCDC50c.780T>C (p.His260=)
c.449-4766T>C (n.449-4766T>C)
3g.191375393T>GCA355764468CCDC50c.780T>G (p.His260Gln)
c.449-4766T>G (n.449-4766T>G)
3g.191375394C>ACA355764469CCDC50c.781C>A (p.Gln261Lys)
c.449-4765C>A (n.449-4765C>A)
3g.191375394C>GCA355764470CCDC50c.781C>G (p.Gln261Glu)
c.449-4765C>G (n.449-4765C>G)
3g.191375394C>TCA355764471CCDC50c.781C>T (p.Gln261Ter)
c.449-4765C>T (n.449-4765C>T)
3g.191375395A=CA1429222266CCDC50c.782A= (p.Gln261=)
c.449-4764A= (n.449-4764A=)
3g.191375395A>CCA355764472CCDC50c.782A>C (p.Gln261Pro)
c.449-4764A>C (n.449-4764A>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375395A>GCA355764473CCDC50c.782A>G (p.Gln261Arg)
c.449-4764A>G (n.449-4764A>G)
gnomAD v4
3g.191375395A>TCA355764474CCDC50c.782A>T (p.Gln261Leu)
c.449-4764A>T (n.449-4764A>T)
3g.191375396G>ACA437637985CCDC50c.783G>A (p.Gln261=)
c.449-4763G>A (n.449-4763G>A)
dbSNP gnomAD v4
3g.191375396G>CCA355764475CCDC50c.783G>C (p.Gln261His)
c.449-4763G>C (n.449-4763G>C)
3g.191375396G=CA1429222267CCDC50c.783G= (p.Gln261=)
c.449-4763G= (n.449-4763G=)
3g.191375396G>TCA2755328CCDC50c.783G>T (p.Gln261His)
c.449-4763G>T (n.449-4763G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375397A>CCA355764476CCDC50c.784A>C (p.Thr262Pro)
c.449-4762A>C (n.449-4762A>C)
3g.191375397A>GCA355764477CCDC50c.784A>G (p.Thr262Ala)
c.449-4762A>G (n.449-4762A>G)
3g.191375397A>TCA355764478CCDC50c.784A>T (p.Thr262Ser)
c.449-4762A>T (n.449-4762A>T)
3g.191375397_191375398insTAGAGCTTGACTGGCA2669072418CCDC50c.784_785insTAGAGCTTGACTGG (p.Thr262IlefsTer?)
c.449-4762_449-4761insTAGAGCTTGACTGG (n.449-4762_449-4761insTAGAGCTTGACTGG)
gnomAD v4
3g.191375398C>ACA355764479CCDC50c.785C>A (p.Thr262Asn)
c.449-4761C>A (n.449-4761C>A)
gnomAD v4
3g.191375398C>GCA355764480CCDC50c.785C>G (p.Thr262Ser)
c.449-4761C>G (n.449-4761C>G)
gnomAD v4
3g.191375398C>TCA355764481CCDC50c.785C>T (p.Thr262Ile)
c.449-4761C>T (n.449-4761C>T)
3g.191375399T>ACA437637999CCDC50c.786T>A (p.Thr262=)
c.449-4760T>A (n.449-4760T>A)
3g.191375399T>CCA437638000CCDC50c.786T>C (p.Thr262=)
c.449-4760T>C (n.449-4760T>C)
3g.191375399T>GCA437638002CCDC50c.786T>G (p.Thr262=)
c.449-4760T>G (n.449-4760T>G)
gnomAD v4
3g.191375400C>ACA437638003CCDC50c.787C>A (p.Arg263=)
c.449-4759C>A (n.449-4759C>A)
3g.191375400C=CA1429222268CCDC50c.787C= (p.Arg263=)
c.449-4759C= (n.449-4759C=)
3g.191375400C>GCA89778694CCDC50c.787C>G (p.Arg263Gly)
c.449-4759C>G (n.449-4759C>G)
dbSNP gnomAD v4 COSMIC
3g.191375400C>TCA2755329CCDC50c.787C>T (p.Arg263Ter)
c.449-4759C>T (n.449-4759C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375401G>ACA355764482CCDC50c.788G>A (p.Arg263Gln)
c.449-4758G>A (n.449-4758G>A)
dbSNP gnomAD v4 COSMIC
3g.191375401G>CCA2755330CCDC50c.788G>C (p.Arg263Pro)
c.449-4758G>C (n.449-4758G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375401G=CA1429222269CCDC50c.788G= (p.Arg263=)
c.449-4758G= (n.449-4758G=)
3g.191375401G>TCA355764483CCDC50c.788G>T (p.Arg263Leu)
c.449-4758G>T (n.449-4758G>T)
3g.191375402A>CCA437638011CCDC50c.789A>C (p.Arg263=)
c.449-4757A>C (n.449-4757A>C)
3g.191375402A>GCA437638008CCDC50c.789A>G (p.Arg263=)
c.449-4757A>G (n.449-4757A>G)
3g.191375402A>TCA437638010CCDC50c.789A>T (p.Arg263=)
c.449-4757A>T (n.449-4757A>T)
gnomAD v4
3g.191375403A>CCA355764484CCDC50c.790A>C (p.Asn264His)
c.449-4756A>C (n.449-4756A>C)
3g.191375403A>GCA355764485CCDC50c.790A>G (p.Asn264Asp)
c.449-4756A>G (n.449-4756A>G)
3g.191375403A>TCA355764486CCDC50c.790A>T (p.Asn264Tyr)
c.449-4756A>T (n.449-4756A>T)
3g.191375404A=CA1429222270CCDC50c.791A= (p.Asn264=)
c.449-4755A= (n.449-4755A=)
3g.191375404A>CCA355764487CCDC50c.791A>C (p.Asn264Thr)
c.449-4755A>C (n.449-4755A>C)
3g.191375404A>GCA2755331CCDC50c.791A>G (p.Asn264Ser)
c.449-4755A>G (n.449-4755A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375404A>TCA355764488CCDC50c.791A>T (p.Asn264Ile)
c.449-4755A>T (n.449-4755A>T)
3g.191375405T>ACA355764489CCDC50c.792T>A (p.Asn264Lys)
c.449-4754T>A (n.449-4754T>A)
3g.191375405T>CCA437638019CCDC50c.792T>C (p.Asn264=)
c.449-4754T>C (n.449-4754T>C)
dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.191375405T>GCA355764490CCDC50c.792T>G (p.Asn264Lys)
c.449-4754T>G (n.449-4754T>G)
3g.191375405T=CA1429222271CCDC50c.792T= (p.Asn264=)
c.449-4754T= (n.449-4754T=)
3g.191375406T>ACA355764491CCDC50c.793T>A (p.Trp265Arg)
c.449-4753T>A (n.449-4753T>A)
3g.191375406T>CCA355764492CCDC50c.793T>C (p.Trp265Arg)
c.449-4753T>C (n.449-4753T>C)
3g.191375406T>GCA355764493CCDC50c.793T>G (p.Trp265Gly)
c.449-4753T>G (n.449-4753T>G)
3g.191375407G>ACA355764496CCDC50c.794G>A (p.Trp265Ter)
c.449-4752G>A (n.449-4752G>A)
3g.191375407G>CCA355764495CCDC50c.794G>C (p.Trp265Ser)
c.449-4752G>C (n.449-4752G>C)
3g.191375407G>TCA355764494CCDC50c.794G>T (p.Trp265Leu)
c.449-4752G>T (n.449-4752G>T)
3g.191375408G>ACA355764497CCDC50c.795G>A (p.Trp265Ter)
c.449-4751G>A (n.449-4751G>A)
dbSNP
3g.191375408G>CCA355764498CCDC50c.795G>C (p.Trp265Cys)
c.449-4751G>C (n.449-4751G>C)
3g.191375408G=CA1429222272CCDC50c.795G= (p.Trp265=)
c.449-4751G= (n.449-4751G=)
3g.191375408G>TCA355764499CCDC50c.795G>T (p.Trp265Cys)
c.449-4751G>T (n.449-4751G>T)
3g.191375409G>ACA355764500CCDC50c.796G>A (p.Glu266Lys)
c.449-4750G>A (n.449-4750G>A)
gnomAD v4
3g.191375409G>CCA2755332CCDC50c.796G>C (p.Glu266Gln)
c.449-4750G>C (n.449-4750G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375409G=CA1429222273CCDC50c.796G= (p.Glu266=)
c.449-4750G= (n.449-4750G=)
3g.191375409G>TCA355764501CCDC50c.796G>T (p.Glu266Ter)
c.449-4750G>T (n.449-4750G>T)
gnomAD v4
3g.191375409_191375411delinsGAACA1429222274CCDC50c.796_798delinsGAA (p.Glu266=)
c.449-4750_449-4748delinsGAA (n.449-4750_449-4748delinsGAA)
3g.191375410A=CA1429222275CCDC50c.797A= (p.Glu266=)
c.449-4749A= (n.449-4749A=)
3g.191375410A>CCA355764502CCDC50c.797A>C (p.Glu266Ala)
c.449-4749A>C (n.449-4749A>C)
3g.191375410A>GCA89778698CCDC50c.797A>G (p.Glu266Gly)
c.449-4749A>G (n.449-4749A>G)
dbSNP gnomAD v3 gnomAD v4
3g.191375410A>TCA355764503CCDC50c.797A>T (p.Glu266Val)
c.449-4749A>T (n.449-4749A>T)
3g.191375413_191375414delCA904369061CCDC50c.800_801del (p.Lys267ThrfsTer?)
c.449-4746_449-4745del (n.449-4746_449-4745del)
dbSNP gnomAD v4
3g.191375411A>CCA355764504CCDC50c.798A>C (p.Glu266Asp)
c.449-4748A>C (n.449-4748A>C)
3g.191375411A>GCA437638034CCDC50c.798A>G (p.Glu266=)
c.449-4748A>G (n.449-4748A>G)
3g.191375411A>TCA355764505CCDC50c.798A>T (p.Glu266Asp)
c.449-4748A>T (n.449-4748A>T)
gnomAD v4
3g.191375412A=CA1429222276CCDC50c.799A= (p.Lys267=)
c.449-4747A= (n.449-4747A=)
3g.191375412A>CCA355764506CCDC50c.799A>C (p.Lys267Gln)
c.449-4747A>C (n.449-4747A>C)
3g.191375412A>GCA355764507CCDC50c.799A>G (p.Lys267Glu)
c.449-4747A>G (n.449-4747A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375412A>TCA355764508CCDC50c.799A>T (p.Lys267Ter)
c.449-4747A>T (n.449-4747A>T)
3g.191375413A=CA1429222277CCDC50c.800A= (p.Lys267=)
c.449-4746A= (n.449-4746A=)
3g.191375413A>CCA355764509CCDC50c.800A>C (p.Lys267Thr)
c.449-4746A>C (n.449-4746A>C)
3g.191375413A>GCA2755333CCDC50c.800A>G (p.Lys267Arg)
c.449-4746A>G (n.449-4746A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375413A>TCA355764510CCDC50c.800A>T (p.Lys267Ile)
c.449-4746A>T (n.449-4746A>T)
3g.191375414A>CCA355764511CCDC50c.801A>C (p.Lys267Asn)
c.449-4745A>C (n.449-4745A>C)
3g.191375414A>GCA437638047CCDC50c.801A>G (p.Lys267=)
c.449-4745A>G (n.449-4745A>G)
3g.191375414A>TCA355764512CCDC50c.801A>T (p.Lys267Asn)
c.449-4745A>T (n.449-4745A>T)
3g.191375415_191375416delCA2669072421CCDC50c.802_803del (p.Gln268ValfsTer?)
c.449-4744_449-4743del (n.449-4744_449-4743del)
gnomAD v4
3g.191375415C>ACA355764513CCDC50c.802C>A (p.Gln268Lys)
c.449-4744C>A (n.449-4744C>A)
gnomAD v4
3g.191375415C=CA1429222278CCDC50c.802C= (p.Gln268=)
c.449-4744C= (n.449-4744C=)
3g.191375415C>GCA355764515CCDC50c.802C>G (p.Gln268Glu)
c.449-4744C>G (n.449-4744C>G)
gnomAD v4
3g.191375415C>TCA355764514CCDC50c.802C>T (p.Gln268Ter)
c.449-4744C>T (n.449-4744C>T)
gnomAD v4
3g.191375416A=CA1429222279CCDC50c.803A= (p.Gln268=)
c.449-4743A= (n.449-4743A=)
3g.191375416A>CCA355764517CCDC50c.803A>C (p.Gln268Pro)
c.449-4743A>C (n.449-4743A>C)
3g.191375416A>GCA2755335CCDC50c.803A>G (p.Gln268Arg)
c.449-4743A>G (n.449-4743A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375416A>TCA355764516CCDC50c.803A>T (p.Gln268Leu)
c.449-4743A>T (n.449-4743A>T)
3g.191375416dupCA2755334CCDC50c.803dup (p.Ser269ValfsTer?)
c.449-4743dup (n.449-4743dup)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375417G>ACA10576612CCDC50c.804G>A (p.Gln268=)
c.449-4742G>A (n.449-4742G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.191375417G>CCA355764518CCDC50c.804G>C (p.Gln268His)
c.449-4742G>C (n.449-4742G>C)
3g.191375417G=CA1429222280CCDC50c.804G= (p.Gln268=)
c.449-4742G= (n.449-4742G=)
3g.191375417G>TCA355764519CCDC50c.804G>T (p.Gln268His)
c.449-4742G>T (n.449-4742G>T)
3g.191375418T>ACA355764520CCDC50c.805T>A (p.Ser269Thr)
c.449-4741T>A (n.449-4741T>A)
3g.191375418T>CCA355764521CCDC50c.805T>C (p.Ser269Pro)
c.449-4741T>C (n.449-4741T>C)
gnomAD v4
3g.191375418T>GCA355764522CCDC50c.805T>G (p.Ser269Ala)
c.449-4741T>G (n.449-4741T>G)
3g.191375419C>ACA355764523CCDC50c.806C>A (p.Ser269Tyr)
c.449-4740C>A (n.449-4740C>A)
3g.191375419C>GCA355764524CCDC50c.806C>G (p.Ser269Cys)
c.449-4740C>G (n.449-4740C>G)
gnomAD v4
3g.191375419C>TCA355764525CCDC50c.806C>T (p.Ser269Phe)
c.449-4740C>T (n.449-4740C>T)
3g.191375420T>ACA437638065CCDC50c.807T>A (p.Ser269=)
c.449-4739T>A (n.449-4739T>A)
3g.191375420T>CCA437638066CCDC50c.807T>C (p.Ser269=)
c.449-4739T>C (n.449-4739T>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375420T>GCA437638068CCDC50c.807T>G (p.Ser269=)
c.449-4739T>G (n.449-4739T>G)
3g.191375420T=CA1429222281CCDC50c.807T= (p.Ser269=)
c.449-4739T= (n.449-4739T=)
3g.191375421C>ACA437638069CCDC50c.808C>A (p.Arg270=)
c.449-4738C>A (n.449-4738C>A)
3g.191375421C=CA1429222282CCDC50c.808C= (p.Arg270=)
c.449-4738C= (n.449-4738C=)
3g.191375421C>GCA2755337CCDC50c.808C>G (p.Arg270Gly)
c.449-4738C>G (n.449-4738C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375421C>TCA2755336CCDC50c.808C>T (p.Arg270Ter)
c.449-4738C>T (n.449-4738C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375422G>ACA355764526CCDC50c.809G>A (p.Arg270Gln)
c.449-4737G>A (n.449-4737G>A)
ClinVar dbSNP gnomAD v4 COSMIC
3g.191375422G>CCA355764527CCDC50c.809G>C (p.Arg270Pro)
c.449-4737G>C (n.449-4737G>C)
3g.191375422G=CA1429222283CCDC50c.809G= (p.Arg270=)
c.449-4737G= (n.449-4737G=)
3g.191375422G>TCA355764528CCDC50c.809G>T (p.Arg270Leu)
c.449-4737G>T (n.449-4737G>T)
dbSNP gnomAD v2 gnomAD v4
3g.191375423A>CCA437638075CCDC50c.810A>C (p.Arg270=)
c.449-4736A>C (n.449-4736A>C)
3g.191375423A>GCA437638076CCDC50c.810A>G (p.Arg270=)
c.449-4736A>G (n.449-4736A>G)
3g.191375423A>TCA437638077CCDC50c.810A>T (p.Arg270=)
c.449-4736A>T (n.449-4736A>T)
3g.191375424C>ACA355764530CCDC50c.811C>A (p.His271Asn)
c.449-4735C>A (n.449-4735C>A)
3g.191375424C=CA1429222284CCDC50c.811C= (p.His271=)
c.449-4735C= (n.449-4735C=)
3g.191375424C>GCA355764529CCDC50c.811C>G (p.His271Asp)
c.449-4735C>G (n.449-4735C>G)
3g.191375424C>TCA2755338CCDC50c.811C>T (p.His271Tyr)
c.449-4735C>T (n.449-4735C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375425A>CCA355764531CCDC50c.812A>C (p.His271Pro)
c.449-4734A>C (n.449-4734A>C)
3g.191375425A>GCA355764532CCDC50c.812A>G (p.His271Arg)
c.449-4734A>G (n.449-4734A>G)
gnomAD v4
3g.191375425A>TCA355764533CCDC50c.812A>T (p.His271Leu)
c.449-4734A>T (n.449-4734A>T)
3g.191375426C>ACA355764534CCDC50c.813C>A (p.His271Gln)
c.449-4733C>A (n.449-4733C>A)
3g.191375426C=CA1429222285CCDC50c.813C= (p.His271=)
c.449-4733C= (n.449-4733C=)
3g.191375426C>GCA355764535CCDC50c.813C>G (p.His271Gln)
c.449-4733C>G (n.449-4733C>G)
3g.191375426C>TCA2755339CCDC50c.813C>T (p.His271=)
c.449-4733C>T (n.449-4733C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375427C>ACA355764536CCDC50c.814C>A (p.Gln272Lys)
c.449-4732C>A (n.449-4732C>A)
3g.191375427C=CA1429222286CCDC50c.814C= (p.Gln272=)
c.449-4732C= (n.449-4732C=)
3g.191375427C>GCA355764537CCDC50c.814C>G (p.Gln272Glu)
c.449-4732C>G (n.449-4732C>G)
3g.191375427C>TCA355764538CCDC50c.814C>T (p.Gln272Ter)
c.449-4732C>T (n.449-4732C>T)
dbSNP gnomAD v2 gnomAD v4
3g.191375428A>CCA355764539CCDC50c.815A>C (p.Gln272Pro)
c.449-4731A>C (n.449-4731A>C)
3g.191375428A>GCA355764540CCDC50c.815A>G (p.Gln272Arg)
c.449-4731A>G (n.449-4731A>G)
gnomAD v4
3g.191375428A>TCA355764541CCDC50c.815A>T (p.Gln272Leu)
c.449-4731A>T (n.449-4731A>T)
3g.191375429A>CCA355764542CCDC50c.816A>C (p.Gln272His)
c.449-4730A>C (n.449-4730A>C)
3g.191375429A>GCA437638090CCDC50c.816A>G (p.Gln272=)
c.449-4730A>G (n.449-4730A>G)
3g.191375429A>TCA355764543CCDC50c.816A>T (p.Gln272His)
c.449-4730A>T (n.449-4730A>T)
gnomAD v4
3g.191375430G>ACA355764544CCDC50c.817G>A (p.Asp273Asn)
c.449-4729G>A (n.449-4729G>A)
dbSNP gnomAD v4
3g.191375430G>CCA355764545CCDC50c.817G>C (p.Asp273His)
c.449-4729G>C (n.449-4729G>C)
3g.191375430G=CA1429222287CCDC50c.817G= (p.Asp273=)
c.449-4729G= (n.449-4729G=)
3g.191375430G>TCA89778704CCDC50c.817G>T (p.Asp273Tyr)
c.449-4729G>T (n.449-4729G>T)
dbSNP
3g.191375431A>CCA355764546CCDC50c.818A>C (p.Asp273Ala)
c.449-4728A>C (n.449-4728A>C)
3g.191375431A>GCA355764547CCDC50c.818A>G (p.Asp273Gly)
c.449-4728A>G (n.449-4728A>G)
3g.191375431A>TCA355764548CCDC50c.818A>T (p.Asp273Val)
c.449-4728A>T (n.449-4728A>T)
3g.191375432T>ACA355764549CCDC50c.819T>A (p.Asp273Glu)
c.449-4727T>A (n.449-4727T>A)
3g.191375432T>CCA437638102CCDC50c.819T>C (p.Asp273=)
c.449-4727T>C (n.449-4727T>C)
3g.191375432T>GCA355764550CCDC50c.819T>G (p.Asp273Glu)
c.449-4727T>G (n.449-4727T>G)
3g.191375433C>ACA437638103CCDC50c.820C>A (p.Arg274=)
c.449-4726C>A (n.449-4726C>A)
gnomAD v4
3g.191375433C=CA1429222288CCDC50c.820C= (p.Arg274=)
c.449-4726C= (n.449-4726C=)
3g.191375433C>GCA355764551CCDC50c.820C>G (p.Arg274Gly)
c.449-4726C>G (n.449-4726C>G)
ClinVar dbSNP gnomAD v4
3g.191375433C>TCA89778705CCDC50c.820C>T (p.Arg274Ter)
c.449-4726C>T (n.449-4726C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375434G>ACA2755340CCDC50c.821G>A (p.Arg274Gln)
c.449-4725G>A (n.449-4725G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375434G>CCA355764554CCDC50c.821G>C (p.Arg274Pro)
c.449-4725G>C (n.449-4725G>C)
3g.191375434G=CA1429222289CCDC50c.821G= (p.Arg274=)
c.449-4725G= (n.449-4725G=)
3g.191375434G>TCA355764556CCDC50c.821G>T (p.Arg274Leu)
c.449-4725G>T (n.449-4725G>T)
dbSNP
3g.191375435A>CCA437638110CCDC50c.822A>C (p.Arg274=)
c.449-4724A>C (n.449-4724A>C)
3g.191375435A>GCA437638113CCDC50c.822A>G (p.Arg274=)
c.449-4724A>G (n.449-4724A>G)
3g.191375435A>TCA437638111CCDC50c.822A>T (p.Arg274=)
c.449-4724A>T (n.449-4724A>T)
3g.191375436C>ACA355764562CCDC50c.823C>A (p.Leu275Ile)
c.449-4723C>A (n.449-4723C>A)
3g.191375436C>GCA355764559CCDC50c.823C>G (p.Leu275Val)
c.449-4723C>G (n.449-4723C>G)
3g.191375436C>TCA355764561CCDC50c.823C>T (p.Leu275Phe)
c.449-4723C>T (n.449-4723C>T)
gnomAD v4
3g.191375437T>ACA355764564CCDC50c.824T>A (p.Leu275His)
c.449-4722T>A (n.449-4722T>A)
3g.191375437T>CCA355764566CCDC50c.824T>C (p.Leu275Pro)
c.449-4722T>C (n.449-4722T>C)
dbSNP
3g.191375437T>GCA355764568CCDC50c.824T>G (p.Leu275Arg)
c.449-4722T>G (n.449-4722T>G)
3g.191375437T=CA1429222290CCDC50c.824T= (p.Leu275=)
c.449-4722T= (n.449-4722T=)
3g.191375438T>ACA437638121CCDC50c.825T>A (p.Leu275=)
c.449-4721T>A (n.449-4721T>A)
3g.191375438T>CCA437638124CCDC50c.825T>C (p.Leu275=)
c.449-4721T>C (n.449-4721T>C)
3g.191375438T>GCA437638127CCDC50c.825T>G (p.Leu275=)
c.449-4721T>G (n.449-4721T>G)
3g.191375439T>ACA355764570CCDC50c.826T>A (p.Ser276Thr)
c.449-4720T>A (n.449-4720T>A)
3g.191375439T>CCA355764571CCDC50c.826T>C (p.Ser276Pro)
c.449-4720T>C (n.449-4720T>C)
3g.191375439T>GCA355764573CCDC50c.826T>G (p.Ser276Ala)
c.449-4720T>G (n.449-4720T>G)
3g.191375440C>ACA355764576CCDC50c.827C>A (p.Ser276Ter)
c.449-4719C>A (n.449-4719C>A)
gnomAD v4
3g.191375440C=CA1429222291CCDC50c.827C= (p.Ser276=)
c.449-4719C= (n.449-4719C=)
3g.191375440C>GCA2755341CCDC50c.827C>G (p.Ser276Ter)
c.449-4719C>G (n.449-4719C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375440C>TCA355764579CCDC50c.827C>T (p.Ser276Leu)
c.449-4719C>T (n.449-4719C>T)
gnomAD v4
3g.191375441A>CCA437638134CCDC50c.828A>C (p.Ser276=)
c.449-4718A>C (n.449-4718A>C)
3g.191375441A>GCA437638138CCDC50c.828A>G (p.Ser276=)
c.449-4718A>G (n.449-4718A>G)
3g.191375441A>TCA437638141CCDC50c.828A>T (p.Ser276=)
c.449-4718A>T (n.449-4718A>T)
3g.191375442C>ACA355764581CCDC50c.829C>A (p.Pro277Thr)
c.449-4717C>A (n.449-4717C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375442C=CA1429222292CCDC50c.829C= (p.Pro277=)
c.449-4717C= (n.449-4717C=)
3g.191375442C>GCA355764583CCDC50c.829C>G (p.Pro277Ala)
c.449-4717C>G (n.449-4717C>G)
3g.191375442C>TCA355764585CCDC50c.829C>T (p.Pro277Ser)
c.449-4717C>T (n.449-4717C>T)
gnomAD v4
3g.191375443C>ACA355764587CCDC50c.830C>A (p.Pro277His)
c.449-4716C>A (n.449-4716C>A)
dbSNP gnomAD v4
3g.191375443C=CA1429222293CCDC50c.830C= (p.Pro277=)
c.449-4716C= (n.449-4716C=)
3g.191375443C>GCA355764590CCDC50c.830C>G (p.Pro277Arg)
c.449-4716C>G (n.449-4716C>G)
gnomAD v4
3g.191375443C>TCA355764589CCDC50c.830C>T (p.Pro277Leu)
c.449-4716C>T (n.449-4716C>T)
3g.191375444C>ACA437638143CCDC50c.831C>A (p.Pro277=)
c.449-4715C>A (n.449-4715C>A)
3g.191375444C>GCA437638144CCDC50c.831C>G (p.Pro277=)
c.449-4715C>G (n.449-4715C>G)
3g.191375444C>TCA437638146CCDC50c.831C>T (p.Pro277=)
c.449-4715C>T (n.449-4715C>T)
COSMIC
3g.191375445A>CCA355764593CCDC50c.832A>C (p.Lys278Gln)
c.449-4714A>C (n.449-4714A>C)
3g.191375445A>GCA355764594CCDC50c.832A>G (p.Lys278Glu)
c.449-4714A>G (n.449-4714A>G)
3g.191375445A>TCA355764596CCDC50c.832A>T (p.Lys278Ter)
c.449-4714A>T (n.449-4714A>T)
3g.191375446A>CCA355764599CCDC50c.833A>C (p.Lys278Thr)
c.449-4713A>C (n.449-4713A>C)
3g.191375446A>GCA355764600CCDC50c.833A>G (p.Lys278Arg)
c.449-4713A>G (n.449-4713A>G)
3g.191375446A>TCA355764603CCDC50c.833A>T (p.Lys278Met)
c.449-4713A>T (n.449-4713A>T)
3g.191375447G>ACA437638153CCDC50c.834G>A (p.Lys278=)
c.449-4712G>A (n.449-4712G>A)
3g.191375447G>CCA355764605CCDC50c.834G>C (p.Lys278Asn)
c.449-4712G>C (n.449-4712G>C)
3g.191375447G=CA1429222294CCDC50c.834G= (p.Lys278=)
c.449-4712G= (n.449-4712G=)
3g.191375447G>TCA355764607CCDC50c.834G>T (p.Lys278Asn)
c.449-4712G>T (n.449-4712G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375448T>ACA355764609CCDC50c.835T>A (p.Ser279Thr)
c.449-4711T>A (n.449-4711T>A)
dbSNP gnomAD v3 gnomAD v4
3g.191375448T>CCA355764613CCDC50c.835T>C (p.Ser279Pro)
c.449-4711T>C (n.449-4711T>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375448T>GCA355764611CCDC50c.835T>G (p.Ser279Ala)
c.449-4711T>G (n.449-4711T>G)
3g.191375448T=CA1429222295CCDC50c.835T= (p.Ser279=)
c.449-4711T= (n.449-4711T=)
3g.191375449C>ACA355764615CCDC50c.836C>A (p.Ser279Tyr)
c.449-4710C>A (n.449-4710C>A)
3g.191375449C>GCA355764618CCDC50c.836C>G (p.Ser279Cys)
c.449-4710C>G (n.449-4710C>G)
3g.191375449C>TCA355764620CCDC50c.836C>T (p.Ser279Phe)
c.449-4710C>T (n.449-4710C>T)
COSMIC
3g.191375450C>ACA437638170CCDC50c.837C>A (p.Ser279=)
c.449-4709C>A (n.449-4709C>A)
3g.191375450C=CA1429222296CCDC50c.837C= (p.Ser279=)
c.449-4709C= (n.449-4709C=)
3g.191375450C>GCA2755342CCDC50c.837C>G (p.Ser279=)
c.449-4709C>G (n.449-4709C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375450C>TCA437638168CCDC50c.837C>T (p.Ser279=)
c.449-4709C>T (n.449-4709C>T)
gnomAD v4
3g.191375451T>ACA355764622CCDC50c.838T>A (p.Ser280Thr)
c.449-4708T>A (n.449-4708T>A)
dbSNP
3g.191375451T>CCA355764627CCDC50c.838T>C (p.Ser280Pro)
c.449-4708T>C (n.449-4708T>C)
gnomAD v4
3g.191375451T>GCA355764624CCDC50c.838T>G (p.Ser280Ala)
c.449-4708T>G (n.449-4708T>G)
3g.191375451T=CA1429222297CCDC50c.838T= (p.Ser280=)
c.449-4708T= (n.449-4708T=)
3g.191375452C>ACA355764629CCDC50c.839C>A (p.Ser280Ter)
c.449-4707C>A (n.449-4707C>A)
3g.191375452C>GCA355764631CCDC50c.839C>G (p.Ser280Ter)
c.449-4707C>G (n.449-4707C>G)
3g.191375452C>TCA355764633CCDC50c.839C>T (p.Ser280Leu)
c.449-4707C>T (n.449-4707C>T)
3g.191375453A>CCA437638178CCDC50c.840A>C (p.Ser280=)
c.449-4706A>C (n.449-4706A>C)
3g.191375453A>GCA437638179CCDC50c.840A>G (p.Ser280=)
c.449-4706A>G (n.449-4706A>G)
3g.191375453A>TCA437638180CCDC50c.840A>T (p.Ser280=)
c.449-4706A>T (n.449-4706A>T)
3g.191375454C>ACA355764635CCDC50c.841C>A (p.Gln281Lys)
c.449-4705C>A (n.449-4705C>A)
3g.191375454C>GCA355764636CCDC50c.841C>G (p.Gln281Glu)
c.449-4705C>G (n.449-4705C>G)
3g.191375454C>TCA355764637CCDC50c.841C>T (p.Gln281Ter)
c.449-4705C>T (n.449-4705C>T)
3g.191375454_191375458delinsCAAAACA1429222298CCDC50c.841_845delinsCAAAA (p.Gln281=)
c.449-4705_449-4701delinsCAAAA (n.449-4705_449-4701delinsCAAAA)
3g.191375455A>CCA355764639CCDC50c.842A>C (p.Gln281Pro)
c.449-4704A>C (n.449-4704A>C)
3g.191375455A>GCA355764640CCDC50c.842A>G (p.Gln281Arg)
c.449-4704A>G (n.449-4704A>G)
3g.191375455A>TCA355764641CCDC50c.842A>T (p.Gln281Leu)
c.449-4704A>T (n.449-4704A>T)
3g.191375456_191375459delCA548798681CCDC50c.843_846del (p.Lys282GlnfsTer?)
c.449-4703_449-4700del (n.449-4703_449-4700del)
dbSNP gnomAD v2 gnomAD v4
3g.191375456A>CCA355764642CCDC50c.843A>C (p.Gln281His)
c.449-4703A>C (n.449-4703A>C)
3g.191375456A>GCA437638186CCDC50c.843A>G (p.Gln281=)
c.449-4703A>G (n.449-4703A>G)
3g.191375456A>TCA355764643CCDC50c.843A>T (p.Gln281His)
c.449-4703A>T (n.449-4703A>T)
COSMIC
3g.191375457A>CCA355764644CCDC50c.844A>C (p.Lys282Gln)
c.449-4702A>C (n.449-4702A>C)
3g.191375457A>GCA355764646CCDC50c.844A>G (p.Lys282Glu)
c.449-4702A>G (n.449-4702A>G)
gnomAD v4
3g.191375457A>TCA355764645CCDC50c.844A>T (p.Lys282Ter)
c.449-4702A>T (n.449-4702A>T)
3g.191375458A>CCA355764649CCDC50c.845A>C (p.Lys282Thr)
c.449-4701A>C (n.449-4701A>C)
3g.191375458A>GCA355764650CCDC50c.845A>G (p.Lys282Arg)
c.449-4701A>G (n.449-4701A>G)
3g.191375458A>TCA355764651CCDC50c.845A>T (p.Lys282Ile)
c.449-4701A>T (n.449-4701A>T)
3g.191375459A=CA1429222299CCDC50c.846A= (p.Lys282=)
c.449-4700A= (n.449-4700A=)
3g.191375459A>CCA355764652CCDC50c.846A>C (p.Lys282Asn)
c.449-4700A>C (n.449-4700A>C)
3g.191375459A>GCA437638199CCDC50c.846A>G (p.Lys282=)
c.449-4700A>G (n.449-4700A>G)
3g.191375459A>TCA355764654CCDC50c.846A>T (p.Lys282Asn)
c.449-4700A>T (n.449-4700A>T)
dbSNP gnomAD v2 gnomAD v4
3g.191375460G>ACA355764656CCDC50c.847G>A (p.Ala283Thr)
c.449-4699G>A (n.449-4699G>A)
3g.191375460G>CCA355764658CCDC50c.847G>C (p.Ala283Pro)
c.449-4699G>C (n.449-4699G>C)
3g.191375460G>TCA355764664CCDC50c.847G>T (p.Ala283Ser)
c.449-4699G>T (n.449-4699G>T)
3g.191375460_191375462delinsGCACA1429222300CCDC50c.847_849delinsGCA (p.Ala283=)
c.449-4699_449-4697delinsGCA (n.449-4699_449-4697delinsGCA)
3g.191375461C>ACA355764666CCDC50c.848C>A (p.Ala283Glu)
c.449-4698C>A (n.449-4698C>A)
3g.191375461C>GCA355764668CCDC50c.848C>G (p.Ala283Gly)
c.449-4698C>G (n.449-4698C>G)
3g.191375461C>TCA355764669CCDC50c.848C>T (p.Ala283Val)
c.449-4698C>T (n.449-4698C>T)
3g.191375461_191375462delCA548798683CCDC50c.848_849del (p.Ala283GlyfsTer17)
c.449-4698_449-4697del (n.449-4698_449-4697del)
dbSNP gnomAD v2 gnomAD v4
3g.191375462A>CCA437638211CCDC50c.849A>C (p.Ala283=)
c.449-4697A>C (n.449-4697A>C)
3g.191375462A>GCA437638208CCDC50c.849A>G (p.Ala283=)
c.449-4697A>G (n.449-4697A>G)
3g.191375462A>TCA437638210CCDC50c.849A>T (p.Ala283=)
c.449-4697A>T (n.449-4697A>T)
3g.191375463G>ACA355764673CCDC50c.850G>A (p.Gly284Arg)
c.449-4696G>A (n.449-4696G>A)
3g.191375463G>CCA355764671CCDC50c.850G>C (p.Gly284Arg)
c.449-4696G>C (n.449-4696G>C)
3g.191375463G>TCA355764670CCDC50c.850G>T (p.Gly284Trp)
c.449-4696G>T (n.449-4696G>T)
3g.191375464G>ACA2755343CCDC50c.851G>A (p.Gly284Glu)
c.449-4695G>A (n.449-4695G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375464G>CCA355764675CCDC50c.851G>C (p.Gly284Ala)
c.449-4695G>C (n.449-4695G>C)
3g.191375464G=CA1429222301CCDC50c.851G= (p.Gly284=)
c.449-4695G= (n.449-4695G=)
3g.191375464G>TCA355764677CCDC50c.851G>T (p.Gly284Val)
c.449-4695G>T (n.449-4695G>T)
3g.191375465G>ACA437638221CCDC50c.852G>A (p.Gly284=)
c.449-4694G>A (n.449-4694G>A)
3g.191375465G>CCA437638222CCDC50c.852G>C (p.Gly284=)
c.449-4694G>C (n.449-4694G>C)
3g.191375465G>TCA437638223CCDC50c.852G>T (p.Gly284=)
c.449-4694G>T (n.449-4694G>T)
3g.191375466C>ACA355764680CCDC50c.853C>A (p.Leu285Ile)
c.449-4693C>A (n.449-4693C>A)
3g.191375466C>GCA355764681CCDC50c.853C>G (p.Leu285Val)
c.449-4693C>G (n.449-4693C>G)
3g.191375466C>TCA355764682CCDC50c.853C>T (p.Leu285Phe)
c.449-4693C>T (n.449-4693C>T)
3g.191375467T>ACA355764683CCDC50c.854T>A (p.Leu285His)
c.449-4692T>A (n.449-4692T>A)
3g.191375467T>CCA355764684CCDC50c.854T>C (p.Leu285Pro)
c.449-4692T>C (n.449-4692T>C)
3g.191375467T>GCA355764685CCDC50c.854T>G (p.Leu285Arg)
c.449-4692T>G (n.449-4692T>G)
3g.191375468T>ACA437638226CCDC50c.855T>A (p.Leu285=)
c.449-4691T>A (n.449-4691T>A)
3g.191375468T>CCA437638227CCDC50c.855T>C (p.Leu285=)
c.449-4691T>C (n.449-4691T>C)
3g.191375468T>GCA437638230CCDC50c.855T>G (p.Leu285=)
c.449-4691T>G (n.449-4691T>G)
3g.191375469C>ACA355764686CCDC50c.856C>A (p.His286Asn)
c.449-4690C>A (n.449-4690C>A)
gnomAD v4
3g.191375469C>GCA355764688CCDC50c.856C>G (p.His286Asp)
c.449-4690C>G (n.449-4690C>G)
3g.191375469C>TCA355764691CCDC50c.856C>T (p.His286Tyr)
c.449-4690C>T (n.449-4690C>T)
COSMIC
3g.191375470A>CCA355764695CCDC50c.857A>C (p.His286Pro)
c.449-4689A>C (n.449-4689A>C)
3g.191375470A>GCA355764696CCDC50c.857A>G (p.His286Arg)
c.449-4689A>G (n.449-4689A>G)
gnomAD v4
3g.191375470A>TCA355764693CCDC50c.857A>T (p.His286Leu)
c.449-4689A>T (n.449-4689A>T)
3g.191375471C>ACA355764701CCDC50c.858C>A (p.His286Gln)
c.449-4688C>A (n.449-4688C>A)
3g.191375471C=CA1429222302CCDC50c.858C= (p.His286=)
c.449-4688C= (n.449-4688C=)
3g.191375471C>GCA355764699CCDC50c.858C>G (p.His286Gln)
c.449-4688C>G (n.449-4688C>G)
3g.191375471C>TCA2755344CCDC50c.858C>T (p.His286=)
c.449-4688C>T (n.449-4688C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.191375472T>ACA355764704CCDC50c.859T>A (p.Cys287Ser)
c.449-4687T>A (n.449-4687T>A)
3g.191375472T>CCA355764706CCDC50c.859T>C (p.Cys287Arg)
c.449-4687T>C (n.449-4687T>C)
dbSNP gnomAD v2 gnomAD v4
3g.191375472T>GCA355764708CCDC50c.859T>G (p.Cys287Gly)
c.449-4687T>G (n.449-4687T>G)
3g.191375472T=CA1429222303CCDC50c.859T= (p.Cys287=)
c.449-4687T= (n.449-4687T=)
3g.191375473G>ACA355764714CCDC50c.860G>A (p.Cys287Tyr)
c.449-4686G>A (n.449-4686G>A)
3g.191375473G>CCA355764712CCDC50c.860G>C (p.Cys287Ser)
c.449-4686G>C (n.449-4686G>C)
3g.191375473G>TCA355764710CCDC50c.860G>T (p.Cys287Phe)
c.449-4686G>T (n.449-4686G>T)
3g.191375474C>ACA355764715CCDC50c.861C>A (p.Cys287Ter)
c.449-4685C>A (n.449-4685C>A)
3g.191375474C=CA1429222304CCDC50c.861C= (p.Cys287=)
c.449-4685C= (n.449-4685C=)
3g.191375474C>GCA355764718CCDC50c.861C>G (p.Cys287Trp)
c.449-4685C>G (n.449-4685C>G)
3g.191375474C>TCA2755345CCDC50c.861C>T (p.Cys287=)
c.449-4685C>T (n.449-4685C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375475A=CA1429222305CCDC50c.862A= (p.Lys288=)
c.449-4684A= (n.449-4684A=)
3g.191375475A>CCA355764722CCDC50c.862A>C (p.Lys288Gln)
c.449-4684A>C (n.449-4684A>C)
3g.191375475A>GCA89778711CCDC50c.862A>G (p.Lys288Glu)
c.449-4684A>G (n.449-4684A>G)
dbSNP gnomAD v4
3g.191375475A>TCA355764725CCDC50c.862A>T (p.Lys288Ter)
c.449-4684A>T (n.449-4684A>T)
3g.191375476A>CCA355764730CCDC50c.863A>C (p.Lys288Thr)
c.449-4683A>C (n.449-4683A>C)
3g.191375476A>GCA355764727CCDC50c.863A>G (p.Lys288Arg)
c.449-4683A>G (n.449-4683A>G)
3g.191375476A>TCA355764728CCDC50c.863A>T (p.Lys288Met)
c.449-4683A>T (n.449-4683A>T)
3g.191375477G>ACA437638249CCDC50c.864G>A (p.Lys288=)
c.449-4682G>A (n.449-4682G>A)
gnomAD v4
3g.191375477G>CCA355764732CCDC50c.864G>C (p.Lys288Asn)
c.449-4682G>C (n.449-4682G>C)
3g.191375477G>TCA355764734CCDC50c.864G>T (p.Lys288Asn)
c.449-4682G>T (n.449-4682G>T)
3g.191375478G>ACA2755346CCDC50c.865G>A (p.Glu289Lys)
c.449-4681G>A (n.449-4681G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375478G>CCA355764737CCDC50c.865G>C (p.Glu289Gln)
c.449-4681G>C (n.449-4681G>C)
3g.191375478G=CA1429222306CCDC50c.865G= (p.Glu289=)
c.449-4681G= (n.449-4681G=)
3g.191375478G>TCA355764739CCDC50c.865G>T (p.Glu289Ter)
c.449-4681G>T (n.449-4681G>T)
3g.191375479A>CCA355764741CCDC50c.866A>C (p.Glu289Ala)
c.449-4680A>C (n.449-4680A>C)
3g.191375479A>GCA355764743CCDC50c.866A>G (p.Glu289Gly)
c.449-4680A>G (n.449-4680A>G)
3g.191375479A>TCA355764745CCDC50c.866A>T (p.Glu289Val)
c.449-4680A>T (n.449-4680A>T)
3g.191375480A=CA1429222307CCDC50c.867A= (p.Glu289=)
c.449-4679A= (n.449-4679A=)
3g.191375480A>CCA355764747CCDC50c.867A>C (p.Glu289Asp)
c.449-4679A>C (n.449-4679A>C)
3g.191375480A>GCA437638257CCDC50c.867A>G (p.Glu289=)
c.449-4679A>G (n.449-4679A>G)
dbSNP
3g.191375480A>TCA355764748CCDC50c.867A>T (p.Glu289Asp)
c.449-4679A>T (n.449-4679A>T)
3g.191375481G>ACA355764749CCDC50c.868G>A (p.Val290Ile)
c.449-4678G>A (n.449-4678G>A)
3g.191375481G>CCA355764750CCDC50c.868G>C (p.Val290Leu)
c.449-4678G>C (n.449-4678G>C)
3g.191375481G>TCA355764751CCDC50c.868G>T (p.Val290Phe)
c.449-4678G>T (n.449-4678G>T)
COSMIC
3g.191375482T>ACA355764753CCDC50c.869T>A (p.Val290Asp)
c.449-4677T>A (n.449-4677T>A)
3g.191375482T>CCA2755347CCDC50c.869T>C (p.Val290Ala)
c.449-4677T>C (n.449-4677T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.191375482T>GCA355764755CCDC50c.869T>G (p.Val290Gly)
c.449-4677T>G (n.449-4677T>G)
3g.191375482T=CA1429222308CCDC50c.869T= (p.Val290=)
c.449-4677T= (n.449-4677T=)
3g.191375483T>ACA437638261CCDC50c.870T>A (p.Val290=)
c.449-4676T>A (n.449-4676T>A)
3g.191375483T>CCA437638264CCDC50c.870T>C (p.Val290=)
c.449-4676T>C (n.449-4676T>C)
gnomAD v4
3g.191375483T>GCA437638262CCDC50c.870T>G (p.Val290=)
c.449-4676T>G (n.449-4676T>G)
3g.191375484G>ACA355764758CCDC50c.871G>A (p.Val291Ile)
c.449-4675G>A (n.449-4675G>A)
3g.191375484G>CCA355764760CCDC50c.871G>C (p.Val291Leu)
c.449-4675G>C (n.449-4675G>C)
3g.191375484G>TCA355764761CCDC50c.871G>T (p.Val291Leu)
c.449-4675G>T (n.449-4675G>T)
3g.191375485T>ACA355764762CCDC50c.872T>A (p.Val291Glu)
c.449-4674T>A (n.449-4674T>A)
3g.191375485T>CCA355764764CCDC50c.872T>C (p.Val291Ala)
c.449-4674T>C (n.449-4674T>C)
3g.191375485T>GCA355764766CCDC50c.872T>G (p.Val291Gly)
c.449-4674T>G (n.449-4674T>G)
3g.191375486A=CA1429222309CCDC50c.873A= (p.Val291=)
c.449-4673A= (n.449-4673A=)
3g.191375486A>CCA437638268CCDC50c.873A>C (p.Val291=)
c.449-4673A>C (n.449-4673A>C)
3g.191375486A>GCA437638269CCDC50c.873A>G (p.Val291=)
c.449-4673A>G (n.449-4673A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.191375486A>TCA437638270CCDC50c.873A>T (p.Val291=)
c.449-4673A>T (n.449-4673A>T)
3g.191375487T>ACA355764771CCDC50c.874T>A (p.Tyr292Asn)
c.449-4672T>A (n.449-4672T>A)
3g.191375487T>CCA355764768CCDC50c.874T>C (p.Tyr292His)
c.449-4672T>C (n.449-4672T>C)
dbSNP gnomAD v4
3g.191375487T>GCA355764770CCDC50c.874T>G (p.Tyr292Asp)
c.449-4672T>G (n.449-4672T>G)
gnomAD v4
3g.191375487T=CA1429222310CCDC50c.874T= (p.Tyr292=)
c.449-4672T= (n.449-4672T=)
3g.191375488A=CA1429222311CCDC50c.875A= (p.Tyr292=)
c.449-4671A= (n.449-4671A=)
3g.191375488A>CCA355764773CCDC50c.875A>C (p.Tyr292Ser)
c.449-4671A>C (n.449-4671A>C)
3g.191375488A>GCA355764774CCDC50c.875A>G (p.Tyr292Cys)
c.449-4671A>G (n.449-4671A>G)
dbSNP gnomAD v2 gnomAD v4
3g.191375488A>TCA355764775CCDC50c.875A>T (p.Tyr292Phe)
c.449-4671A>T (n.449-4671A>T)
3g.191375489T>ACA355764777CCDC50c.876T>A (p.Tyr292Ter)
c.449-4670T>A (n.449-4670T>A)
3g.191375489T>CCA437638278CCDC50c.876T>C (p.Tyr292=)
c.449-4670T>C (n.449-4670T>C)
3g.191375489T>GCA355764779CCDC50c.876T>G (p.Tyr292Ter)
c.449-4670T>G (n.449-4670T>G)
3g.191375489dupCA2577992225CCDC50c.876dup (p.Gly293TrpfsTer8)
c.449-4670dup (n.449-4670dup)
3g.191375490G>ACA355764782CCDC50c.877G>A (p.Gly293Arg)
c.449-4669G>A (n.449-4669G>A)
COSMIC
3g.191375490G>CCA355764786CCDC50c.877G>C (p.Gly293Arg)
c.449-4669G>C (n.449-4669G>C)
3g.191375490G>TCA355764784CCDC50c.877G>T (p.Gly293Trp)
c.449-4669G>T (n.449-4669G>T)
dbSNP
3g.191375491G>ACA89778714CCDC50c.878G>A (p.Gly293Glu)
c.449-4668G>A (n.449-4668G>A)
dbSNP
3g.191375491G>CCA355764789CCDC50c.878G>C (p.Gly293Ala)
c.449-4668G>C (n.449-4668G>C)
3g.191375491G=CA1429222312CCDC50c.878G= (p.Gly293=)
c.449-4668G= (n.449-4668G=)
3g.191375491G>TCA355764791CCDC50c.878G>T (p.Gly293Val)
c.449-4668G>T (n.449-4668G>T)
3g.191375492G>ACA437637604CCDC50c.879G>A (p.Gly293=)
c.449-4667G>A (n.449-4667G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.191375492G>CCA437637605CCDC50c.879G>C (p.Gly293=)
c.449-4667G>C (n.449-4667G>C)
3g.191375492G=CA1429222313CCDC50c.879G= (p.Gly293=)
c.449-4667G= (n.449-4667G=)
3g.191375492G>TCA437637607CCDC50c.879G>T (p.Gly293=)
c.449-4667G>T (n.449-4667G>T)

Number of alleles fetched