Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.19077971C=CA1156956059UBR4c.15324+5G= (n.15324+5G=)
c.2445+5G= (n.2445+5G=)
c.549+5G= (n.549+5G=)
n.3331+5G=
c.15477+5G= (n.15477+5G=)
c.15474+5G= (n.15474+5G=)
c.15462+5G= (n.15462+5G=)
c.15459+5G= (n.15459+5G=)
c.15453+5G= (n.15453+5G=)
c.15444+5G= (n.15444+5G=)
c.15393+5G= (n.15393+5G=)
c.15390+5G= (n.15390+5G=)
c.15357+5G= (n.15357+5G=)
c.15354+5G= (n.15354+5G=)
c.15321+5G= (n.15321+5G=)
c.15591+5G= (n.15591+5G=)
c.15588+5G= (n.15588+5G=)
c.15576+5G= (n.15576+5G=)
c.15573+5G= (n.15573+5G=)
c.15567+5G= (n.15567+5G=)
c.15558+5G= (n.15558+5G=)
c.15507+5G= (n.15507+5G=)
c.15504+5G= (n.15504+5G=)
c.15471+5G= (n.15471+5G=)
c.15468+5G= (n.15468+5G=)
c.15435+5G= (n.15435+5G=)
c.15570+5G= (n.15570+5G=)
c.15543+5G= (n.15543+5G=)
c.15489+5G= (n.15489+5G=)
c.15456+5G= (n.15456+5G=)
c.15432+5G= (n.15432+5G=)
c.15384+5G= (n.15384+5G=)
c.15333+5G= (n.15333+5G=)
1g.19077971C>TCA647907UBR4c.15324+5G>A (n.15324+5G>A)
c.2445+5G>A (n.2445+5G>A)
c.549+5G>A (n.549+5G>A)
n.3331+5G>A
c.15477+5G>A (n.15477+5G>A)
c.15474+5G>A (n.15474+5G>A)
c.15462+5G>A (n.15462+5G>A)
c.15459+5G>A (n.15459+5G>A)
c.15453+5G>A (n.15453+5G>A)
c.15444+5G>A (n.15444+5G>A)
c.15393+5G>A (n.15393+5G>A)
c.15390+5G>A (n.15390+5G>A)
c.15357+5G>A (n.15357+5G>A)
c.15354+5G>A (n.15354+5G>A)
c.15321+5G>A (n.15321+5G>A)
c.15591+5G>A (n.15591+5G>A)
c.15588+5G>A (n.15588+5G>A)
c.15576+5G>A (n.15576+5G>A)
c.15573+5G>A (n.15573+5G>A)
c.15567+5G>A (n.15567+5G>A)
c.15558+5G>A (n.15558+5G>A)
c.15507+5G>A (n.15507+5G>A)
c.15504+5G>A (n.15504+5G>A)
c.15471+5G>A (n.15471+5G>A)
c.15468+5G>A (n.15468+5G>A)
c.15435+5G>A (n.15435+5G>A)
c.15570+5G>A (n.15570+5G>A)
c.15543+5G>A (n.15543+5G>A)
c.15489+5G>A (n.15489+5G>A)
c.15456+5G>A (n.15456+5G>A)
c.15432+5G>A (n.15432+5G>A)
c.15384+5G>A (n.15384+5G>A)
c.15333+5G>A (n.15333+5G>A)
 dbSNP ExAC gnomAD v2
1g.19077973dupCA18791028UBR4c.15324+4dup (n.15324+4dup)
c.2445+4dup (n.2445+4dup)
c.549+4dup (n.549+4dup)
n.3331+4dup
c.15477+4dup (n.15477+4dup)
c.15474+4dup (n.15474+4dup)
c.15462+4dup (n.15462+4dup)
c.15459+4dup (n.15459+4dup)
c.15453+4dup (n.15453+4dup)
c.15444+4dup (n.15444+4dup)
c.15393+4dup (n.15393+4dup)
c.15390+4dup (n.15390+4dup)
c.15357+4dup (n.15357+4dup)
c.15354+4dup (n.15354+4dup)
c.15321+4dup (n.15321+4dup)
c.15591+4dup (n.15591+4dup)
c.15588+4dup (n.15588+4dup)
c.15576+4dup (n.15576+4dup)
c.15573+4dup (n.15573+4dup)
c.15567+4dup (n.15567+4dup)
c.15558+4dup (n.15558+4dup)
c.15507+4dup (n.15507+4dup)
c.15504+4dup (n.15504+4dup)
c.15471+4dup (n.15471+4dup)
c.15468+4dup (n.15468+4dup)
c.15435+4dup (n.15435+4dup)
c.15570+4dup (n.15570+4dup)
c.15543+4dup (n.15543+4dup)
c.15489+4dup (n.15489+4dup)
c.15456+4dup (n.15456+4dup)
c.15432+4dup (n.15432+4dup)
c.15384+4dup (n.15384+4dup)
c.15333+4dup (n.15333+4dup)
 dbSNP
1g.19077973T>CCA1156956060UBR4c.15324+3A>G (n.15324+3A>G)
c.2445+3A>G (n.2445+3A>G)
c.549+3A>G (n.549+3A>G)
n.3331+3A>G
c.15477+3A>G (n.15477+3A>G)
c.15474+3A>G (n.15474+3A>G)
c.15462+3A>G (n.15462+3A>G)
c.15459+3A>G (n.15459+3A>G)
c.15453+3A>G (n.15453+3A>G)
c.15444+3A>G (n.15444+3A>G)
c.15393+3A>G (n.15393+3A>G)
c.15390+3A>G (n.15390+3A>G)
c.15357+3A>G (n.15357+3A>G)
c.15354+3A>G (n.15354+3A>G)
c.15321+3A>G (n.15321+3A>G)
c.15591+3A>G (n.15591+3A>G)
c.15588+3A>G (n.15588+3A>G)
c.15576+3A>G (n.15576+3A>G)
c.15573+3A>G (n.15573+3A>G)
c.15567+3A>G (n.15567+3A>G)
c.15558+3A>G (n.15558+3A>G)
c.15507+3A>G (n.15507+3A>G)
c.15504+3A>G (n.15504+3A>G)
c.15471+3A>G (n.15471+3A>G)
c.15468+3A>G (n.15468+3A>G)
c.15435+3A>G (n.15435+3A>G)
c.15570+3A>G (n.15570+3A>G)
c.15543+3A>G (n.15543+3A>G)
c.15489+3A>G (n.15489+3A>G)
c.15456+3A>G (n.15456+3A>G)
c.15432+3A>G (n.15432+3A>G)
c.15384+3A>G (n.15384+3A>G)
c.15333+3A>G (n.15333+3A>G)
 dbSNP gnomAD v4
1g.19077973T=CA1156956061UBR4c.15324+3A= (n.15324+3A=)
c.2445+3A= (n.2445+3A=)
c.549+3A= (n.549+3A=)
n.3331+3A=
c.15477+3A= (n.15477+3A=)
c.15474+3A= (n.15474+3A=)
c.15462+3A= (n.15462+3A=)
c.15459+3A= (n.15459+3A=)
c.15453+3A= (n.15453+3A=)
c.15444+3A= (n.15444+3A=)
c.15393+3A= (n.15393+3A=)
c.15390+3A= (n.15390+3A=)
c.15357+3A= (n.15357+3A=)
c.15354+3A= (n.15354+3A=)
c.15321+3A= (n.15321+3A=)
c.15591+3A= (n.15591+3A=)
c.15588+3A= (n.15588+3A=)
c.15576+3A= (n.15576+3A=)
c.15573+3A= (n.15573+3A=)
c.15567+3A= (n.15567+3A=)
c.15558+3A= (n.15558+3A=)
c.15507+3A= (n.15507+3A=)
c.15504+3A= (n.15504+3A=)
c.15471+3A= (n.15471+3A=)
c.15468+3A= (n.15468+3A=)
c.15435+3A= (n.15435+3A=)
c.15570+3A= (n.15570+3A=)
c.15543+3A= (n.15543+3A=)
c.15489+3A= (n.15489+3A=)
c.15456+3A= (n.15456+3A=)
c.15432+3A= (n.15432+3A=)
c.15384+3A= (n.15384+3A=)
c.15333+3A= (n.15333+3A=)
1g.19077974A>CCA338748014UBR4c.15324+2T>G (n.15324+2T>G)
c.2445+2T>G (n.2445+2T>G)
c.549+2T>G (n.549+2T>G)
n.3331+2T>G
c.15477+2T>G (n.15477+2T>G)
c.15474+2T>G (n.15474+2T>G)
c.15462+2T>G (n.15462+2T>G)
c.15459+2T>G (n.15459+2T>G)
c.15453+2T>G (n.15453+2T>G)
c.15444+2T>G (n.15444+2T>G)
c.15393+2T>G (n.15393+2T>G)
c.15390+2T>G (n.15390+2T>G)
c.15357+2T>G (n.15357+2T>G)
c.15354+2T>G (n.15354+2T>G)
c.15321+2T>G (n.15321+2T>G)
c.15591+2T>G (n.15591+2T>G)
c.15588+2T>G (n.15588+2T>G)
c.15576+2T>G (n.15576+2T>G)
c.15573+2T>G (n.15573+2T>G)
c.15567+2T>G (n.15567+2T>G)
c.15558+2T>G (n.15558+2T>G)
c.15507+2T>G (n.15507+2T>G)
c.15504+2T>G (n.15504+2T>G)
c.15471+2T>G (n.15471+2T>G)
c.15468+2T>G (n.15468+2T>G)
c.15435+2T>G (n.15435+2T>G)
c.15570+2T>G (n.15570+2T>G)
c.15543+2T>G (n.15543+2T>G)
c.15489+2T>G (n.15489+2T>G)
c.15456+2T>G (n.15456+2T>G)
c.15432+2T>G (n.15432+2T>G)
c.15384+2T>G (n.15384+2T>G)
c.15333+2T>G (n.15333+2T>G)
1g.19077974A>GCA338748018UBR4c.15324+2T>C (n.15324+2T>C)
c.2445+2T>C (n.2445+2T>C)
c.549+2T>C (n.549+2T>C)
n.3331+2T>C
c.15477+2T>C (n.15477+2T>C)
c.15474+2T>C (n.15474+2T>C)
c.15462+2T>C (n.15462+2T>C)
c.15459+2T>C (n.15459+2T>C)
c.15453+2T>C (n.15453+2T>C)
c.15444+2T>C (n.15444+2T>C)
c.15393+2T>C (n.15393+2T>C)
c.15390+2T>C (n.15390+2T>C)
c.15357+2T>C (n.15357+2T>C)
c.15354+2T>C (n.15354+2T>C)
c.15321+2T>C (n.15321+2T>C)
c.15591+2T>C (n.15591+2T>C)
c.15588+2T>C (n.15588+2T>C)
c.15576+2T>C (n.15576+2T>C)
c.15573+2T>C (n.15573+2T>C)
c.15567+2T>C (n.15567+2T>C)
c.15558+2T>C (n.15558+2T>C)
c.15507+2T>C (n.15507+2T>C)
c.15504+2T>C (n.15504+2T>C)
c.15471+2T>C (n.15471+2T>C)
c.15468+2T>C (n.15468+2T>C)
c.15435+2T>C (n.15435+2T>C)
c.15570+2T>C (n.15570+2T>C)
c.15543+2T>C (n.15543+2T>C)
c.15489+2T>C (n.15489+2T>C)
c.15456+2T>C (n.15456+2T>C)
c.15432+2T>C (n.15432+2T>C)
c.15384+2T>C (n.15384+2T>C)
c.15333+2T>C (n.15333+2T>C)
1g.19077974A>TCA338748016UBR4c.15324+2T>A (n.15324+2T>A)
c.2445+2T>A (n.2445+2T>A)
c.549+2T>A (n.549+2T>A)
n.3331+2T>A
c.15477+2T>A (n.15477+2T>A)
c.15474+2T>A (n.15474+2T>A)
c.15462+2T>A (n.15462+2T>A)
c.15459+2T>A (n.15459+2T>A)
c.15453+2T>A (n.15453+2T>A)
c.15444+2T>A (n.15444+2T>A)
c.15393+2T>A (n.15393+2T>A)
c.15390+2T>A (n.15390+2T>A)
c.15357+2T>A (n.15357+2T>A)
c.15354+2T>A (n.15354+2T>A)
c.15321+2T>A (n.15321+2T>A)
c.15591+2T>A (n.15591+2T>A)
c.15588+2T>A (n.15588+2T>A)
c.15576+2T>A (n.15576+2T>A)
c.15573+2T>A (n.15573+2T>A)
c.15567+2T>A (n.15567+2T>A)
c.15558+2T>A (n.15558+2T>A)
c.15507+2T>A (n.15507+2T>A)
c.15504+2T>A (n.15504+2T>A)
c.15471+2T>A (n.15471+2T>A)
c.15468+2T>A (n.15468+2T>A)
c.15435+2T>A (n.15435+2T>A)
c.15570+2T>A (n.15570+2T>A)
c.15543+2T>A (n.15543+2T>A)
c.15489+2T>A (n.15489+2T>A)
c.15456+2T>A (n.15456+2T>A)
c.15432+2T>A (n.15432+2T>A)
c.15384+2T>A (n.15384+2T>A)
c.15333+2T>A (n.15333+2T>A)
1g.19077975C>ACA338748020UBR4c.15324+1G>T (n.15324+1G>T)
c.2445+1G>T (n.2445+1G>T)
c.549+1G>T (n.549+1G>T)
n.3331+1G>T
c.15477+1G>T (n.15477+1G>T)
c.15474+1G>T (n.15474+1G>T)
c.15462+1G>T (n.15462+1G>T)
c.15459+1G>T (n.15459+1G>T)
c.15453+1G>T (n.15453+1G>T)
c.15444+1G>T (n.15444+1G>T)
c.15393+1G>T (n.15393+1G>T)
c.15390+1G>T (n.15390+1G>T)
c.15357+1G>T (n.15357+1G>T)
c.15354+1G>T (n.15354+1G>T)
c.15321+1G>T (n.15321+1G>T)
c.15591+1G>T (n.15591+1G>T)
c.15588+1G>T (n.15588+1G>T)
c.15576+1G>T (n.15576+1G>T)
c.15573+1G>T (n.15573+1G>T)
c.15567+1G>T (n.15567+1G>T)
c.15558+1G>T (n.15558+1G>T)
c.15507+1G>T (n.15507+1G>T)
c.15504+1G>T (n.15504+1G>T)
c.15471+1G>T (n.15471+1G>T)
c.15468+1G>T (n.15468+1G>T)
c.15435+1G>T (n.15435+1G>T)
c.15570+1G>T (n.15570+1G>T)
c.15543+1G>T (n.15543+1G>T)
c.15489+1G>T (n.15489+1G>T)
c.15456+1G>T (n.15456+1G>T)
c.15432+1G>T (n.15432+1G>T)
c.15384+1G>T (n.15384+1G>T)
c.15333+1G>T (n.15333+1G>T)
 gnomAD v4
1g.19077975C>GCA338748022UBR4c.15324+1G>C (n.15324+1G>C)
c.2445+1G>C (n.2445+1G>C)
c.549+1G>C (n.549+1G>C)
n.3331+1G>C
c.15477+1G>C (n.15477+1G>C)
c.15474+1G>C (n.15474+1G>C)
c.15462+1G>C (n.15462+1G>C)
c.15459+1G>C (n.15459+1G>C)
c.15453+1G>C (n.15453+1G>C)
c.15444+1G>C (n.15444+1G>C)
c.15393+1G>C (n.15393+1G>C)
c.15390+1G>C (n.15390+1G>C)
c.15357+1G>C (n.15357+1G>C)
c.15354+1G>C (n.15354+1G>C)
c.15321+1G>C (n.15321+1G>C)
c.15591+1G>C (n.15591+1G>C)
c.15588+1G>C (n.15588+1G>C)
c.15576+1G>C (n.15576+1G>C)
c.15573+1G>C (n.15573+1G>C)
c.15567+1G>C (n.15567+1G>C)
c.15558+1G>C (n.15558+1G>C)
c.15507+1G>C (n.15507+1G>C)
c.15504+1G>C (n.15504+1G>C)
c.15471+1G>C (n.15471+1G>C)
c.15468+1G>C (n.15468+1G>C)
c.15435+1G>C (n.15435+1G>C)
c.15570+1G>C (n.15570+1G>C)
c.15543+1G>C (n.15543+1G>C)
c.15489+1G>C (n.15489+1G>C)
c.15456+1G>C (n.15456+1G>C)
c.15432+1G>C (n.15432+1G>C)
c.15384+1G>C (n.15384+1G>C)
c.15333+1G>C (n.15333+1G>C)
1g.19077975C>TCA338748023UBR4c.15324+1G>A (n.15324+1G>A)
c.2445+1G>A (n.2445+1G>A)
c.549+1G>A (n.549+1G>A)
n.3331+1G>A
c.15477+1G>A (n.15477+1G>A)
c.15474+1G>A (n.15474+1G>A)
c.15462+1G>A (n.15462+1G>A)
c.15459+1G>A (n.15459+1G>A)
c.15453+1G>A (n.15453+1G>A)
c.15444+1G>A (n.15444+1G>A)
c.15393+1G>A (n.15393+1G>A)
c.15390+1G>A (n.15390+1G>A)
c.15357+1G>A (n.15357+1G>A)
c.15354+1G>A (n.15354+1G>A)
c.15321+1G>A (n.15321+1G>A)
c.15591+1G>A (n.15591+1G>A)
c.15588+1G>A (n.15588+1G>A)
c.15576+1G>A (n.15576+1G>A)
c.15573+1G>A (n.15573+1G>A)
c.15567+1G>A (n.15567+1G>A)
c.15558+1G>A (n.15558+1G>A)
c.15507+1G>A (n.15507+1G>A)
c.15504+1G>A (n.15504+1G>A)
c.15471+1G>A (n.15471+1G>A)
c.15468+1G>A (n.15468+1G>A)
c.15435+1G>A (n.15435+1G>A)
c.15570+1G>A (n.15570+1G>A)
c.15543+1G>A (n.15543+1G>A)
c.15489+1G>A (n.15489+1G>A)
c.15456+1G>A (n.15456+1G>A)
c.15432+1G>A (n.15432+1G>A)
c.15384+1G>A (n.15384+1G>A)
c.15333+1G>A (n.15333+1G>A)
1g.19077976C>ACA338748026UBR4c.15324G>T (p.Lys5108Asn)
c.2445G>T (p.Lys815Asn)
c.549G>T (p.Lys183Asn)
n.3331G>T
c.15477G>T (p.Lys5159Asn)
c.15474G>T (p.Lys5158Asn)
c.15462G>T (p.Lys5154Asn)
c.15459G>T (p.Lys5153Asn)
c.15453G>T (p.Lys5151Asn)
c.15444G>T (p.Lys5148Asn)
c.15393G>T (p.Lys5131Asn)
c.15390G>T (p.Lys5130Asn)
c.15357G>T (p.Lys5119Asn)
c.15354G>T (p.Lys5118Asn)
c.15321G>T (p.Lys5107Asn)
c.15591G>T (p.Lys5197Asn)
c.15588G>T (p.Lys5196Asn)
c.15576G>T (p.Lys5192Asn)
c.15573G>T (p.Lys5191Asn)
c.15567G>T (p.Lys5189Asn)
c.15558G>T (p.Lys5186Asn)
c.15507G>T (p.Lys5169Asn)
c.15504G>T (p.Lys5168Asn)
c.15471G>T (p.Lys5157Asn)
c.15468G>T (p.Lys5156Asn)
c.15435G>T (p.Lys5145Asn)
c.15570G>T (p.Lys5190Asn)
c.15543G>T (p.Lys5181Asn)
c.15489G>T (p.Lys5163Asn)
c.15456G>T (p.Lys5152Asn)
c.15432G>T (p.Lys5144Asn)
c.15384G>T (p.Lys5128Asn)
c.15333G>T (p.Lys5111Asn)
1g.19077976C>GCA338748027UBR4c.15324G>C (p.Lys5108Asn)
c.2445G>C (p.Lys815Asn)
c.549G>C (p.Lys183Asn)
n.3331G>C
c.15477G>C (p.Lys5159Asn)
c.15474G>C (p.Lys5158Asn)
c.15462G>C (p.Lys5154Asn)
c.15459G>C (p.Lys5153Asn)
c.15453G>C (p.Lys5151Asn)
c.15444G>C (p.Lys5148Asn)
c.15393G>C (p.Lys5131Asn)
c.15390G>C (p.Lys5130Asn)
c.15357G>C (p.Lys5119Asn)
c.15354G>C (p.Lys5118Asn)
c.15321G>C (p.Lys5107Asn)
c.15591G>C (p.Lys5197Asn)
c.15588G>C (p.Lys5196Asn)
c.15576G>C (p.Lys5192Asn)
c.15573G>C (p.Lys5191Asn)
c.15567G>C (p.Lys5189Asn)
c.15558G>C (p.Lys5186Asn)
c.15507G>C (p.Lys5169Asn)
c.15504G>C (p.Lys5168Asn)
c.15471G>C (p.Lys5157Asn)
c.15468G>C (p.Lys5156Asn)
c.15435G>C (p.Lys5145Asn)
c.15570G>C (p.Lys5190Asn)
c.15543G>C (p.Lys5181Asn)
c.15489G>C (p.Lys5163Asn)
c.15456G>C (p.Lys5152Asn)
c.15432G>C (p.Lys5144Asn)
c.15384G>C (p.Lys5128Asn)
c.15333G>C (p.Lys5111Asn)
1g.19077976C>TCA416452962UBR4c.15324G>A (p.Lys5108=)
c.2445G>A (p.Lys815=)
c.549G>A (p.Lys183=)
n.3331G>A
c.15477G>A (p.Lys5159=)
c.15474G>A (p.Lys5158=)
c.15462G>A (p.Lys5154=)
c.15459G>A (p.Lys5153=)
c.15453G>A (p.Lys5151=)
c.15444G>A (p.Lys5148=)
c.15393G>A (p.Lys5131=)
c.15390G>A (p.Lys5130=)
c.15357G>A (p.Lys5119=)
c.15354G>A (p.Lys5118=)
c.15321G>A (p.Lys5107=)
c.15591G>A (p.Lys5197=)
c.15588G>A (p.Lys5196=)
c.15576G>A (p.Lys5192=)
c.15573G>A (p.Lys5191=)
c.15567G>A (p.Lys5189=)
c.15558G>A (p.Lys5186=)
c.15507G>A (p.Lys5169=)
c.15504G>A (p.Lys5168=)
c.15471G>A (p.Lys5157=)
c.15468G>A (p.Lys5156=)
c.15435G>A (p.Lys5145=)
c.15570G>A (p.Lys5190=)
c.15543G>A (p.Lys5181=)
c.15489G>A (p.Lys5163=)
c.15456G>A (p.Lys5152=)
c.15432G>A (p.Lys5144=)
c.15384G>A (p.Lys5128=)
c.15333G>A (p.Lys5111=)
1g.19077977T>ACA338748030UBR4c.15323A>T (p.Lys5108Met)
c.2444A>T (p.Lys815Met)
c.548A>T (p.Lys183Met)
n.3330A>T
c.15476A>T (p.Lys5159Met)
c.15473A>T (p.Lys5158Met)
c.15461A>T (p.Lys5154Met)
c.15458A>T (p.Lys5153Met)
c.15452A>T (p.Lys5151Met)
c.15443A>T (p.Lys5148Met)
c.15392A>T (p.Lys5131Met)
c.15389A>T (p.Lys5130Met)
c.15356A>T (p.Lys5119Met)
c.15353A>T (p.Lys5118Met)
c.15320A>T (p.Lys5107Met)
c.15590A>T (p.Lys5197Met)
c.15587A>T (p.Lys5196Met)
c.15575A>T (p.Lys5192Met)
c.15572A>T (p.Lys5191Met)
c.15566A>T (p.Lys5189Met)
c.15557A>T (p.Lys5186Met)
c.15506A>T (p.Lys5169Met)
c.15503A>T (p.Lys5168Met)
c.15470A>T (p.Lys5157Met)
c.15467A>T (p.Lys5156Met)
c.15434A>T (p.Lys5145Met)
c.15569A>T (p.Lys5190Met)
c.15542A>T (p.Lys5181Met)
c.15488A>T (p.Lys5163Met)
c.15455A>T (p.Lys5152Met)
c.15431A>T (p.Lys5144Met)
c.15383A>T (p.Lys5128Met)
c.15332A>T (p.Lys5111Met)
1g.19077977T>CCA338748032UBR4c.15323A>G (p.Lys5108Arg)
c.2444A>G (p.Lys815Arg)
c.548A>G (p.Lys183Arg)
n.3330A>G
c.15476A>G (p.Lys5159Arg)
c.15473A>G (p.Lys5158Arg)
c.15461A>G (p.Lys5154Arg)
c.15458A>G (p.Lys5153Arg)
c.15452A>G (p.Lys5151Arg)
c.15443A>G (p.Lys5148Arg)
c.15392A>G (p.Lys5131Arg)
c.15389A>G (p.Lys5130Arg)
c.15356A>G (p.Lys5119Arg)
c.15353A>G (p.Lys5118Arg)
c.15320A>G (p.Lys5107Arg)
c.15590A>G (p.Lys5197Arg)
c.15587A>G (p.Lys5196Arg)
c.15575A>G (p.Lys5192Arg)
c.15572A>G (p.Lys5191Arg)
c.15566A>G (p.Lys5189Arg)
c.15557A>G (p.Lys5186Arg)
c.15506A>G (p.Lys5169Arg)
c.15503A>G (p.Lys5168Arg)
c.15470A>G (p.Lys5157Arg)
c.15467A>G (p.Lys5156Arg)
c.15434A>G (p.Lys5145Arg)
c.15569A>G (p.Lys5190Arg)
c.15542A>G (p.Lys5181Arg)
c.15488A>G (p.Lys5163Arg)
c.15455A>G (p.Lys5152Arg)
c.15431A>G (p.Lys5144Arg)
c.15383A>G (p.Lys5128Arg)
c.15332A>G (p.Lys5111Arg)
1g.19077977T>GCA338748034UBR4c.15323A>C (p.Lys5108Thr)
c.2444A>C (p.Lys815Thr)
c.548A>C (p.Lys183Thr)
n.3330A>C
c.15476A>C (p.Lys5159Thr)
c.15473A>C (p.Lys5158Thr)
c.15461A>C (p.Lys5154Thr)
c.15458A>C (p.Lys5153Thr)
c.15452A>C (p.Lys5151Thr)
c.15443A>C (p.Lys5148Thr)
c.15392A>C (p.Lys5131Thr)
c.15389A>C (p.Lys5130Thr)
c.15356A>C (p.Lys5119Thr)
c.15353A>C (p.Lys5118Thr)
c.15320A>C (p.Lys5107Thr)
c.15590A>C (p.Lys5197Thr)
c.15587A>C (p.Lys5196Thr)
c.15575A>C (p.Lys5192Thr)
c.15572A>C (p.Lys5191Thr)
c.15566A>C (p.Lys5189Thr)
c.15557A>C (p.Lys5186Thr)
c.15506A>C (p.Lys5169Thr)
c.15503A>C (p.Lys5168Thr)
c.15470A>C (p.Lys5157Thr)
c.15467A>C (p.Lys5156Thr)
c.15434A>C (p.Lys5145Thr)
c.15569A>C (p.Lys5190Thr)
c.15542A>C (p.Lys5181Thr)
c.15488A>C (p.Lys5163Thr)
c.15455A>C (p.Lys5152Thr)
c.15431A>C (p.Lys5144Thr)
c.15383A>C (p.Lys5128Thr)
c.15332A>C (p.Lys5111Thr)
 COSMIC COSMIC COSMIC COSMIC
1g.19077978T>ACA338748036UBR4c.15322A>T (p.Lys5108Ter)
c.2443A>T (p.Lys815Ter)
c.547A>T (p.Lys183Ter)
n.3329A>T
c.15475A>T (p.Lys5159Ter)
c.15472A>T (p.Lys5158Ter)
c.15460A>T (p.Lys5154Ter)
c.15457A>T (p.Lys5153Ter)
c.15451A>T (p.Lys5151Ter)
c.15442A>T (p.Lys5148Ter)
c.15391A>T (p.Lys5131Ter)
c.15388A>T (p.Lys5130Ter)
c.15355A>T (p.Lys5119Ter)
c.15352A>T (p.Lys5118Ter)
c.15319A>T (p.Lys5107Ter)
c.15589A>T (p.Lys5197Ter)
c.15586A>T (p.Lys5196Ter)
c.15574A>T (p.Lys5192Ter)
c.15571A>T (p.Lys5191Ter)
c.15565A>T (p.Lys5189Ter)
c.15556A>T (p.Lys5186Ter)
c.15505A>T (p.Lys5169Ter)
c.15502A>T (p.Lys5168Ter)
c.15469A>T (p.Lys5157Ter)
c.15466A>T (p.Lys5156Ter)
c.15433A>T (p.Lys5145Ter)
c.15568A>T (p.Lys5190Ter)
c.15541A>T (p.Lys5181Ter)
c.15487A>T (p.Lys5163Ter)
c.15454A>T (p.Lys5152Ter)
c.15430A>T (p.Lys5144Ter)
c.15382A>T (p.Lys5128Ter)
c.15331A>T (p.Lys5111Ter)
1g.19077978T>CCA338748038UBR4c.15322A>G (p.Lys5108Glu)
c.2443A>G (p.Lys815Glu)
c.547A>G (p.Lys183Glu)
n.3329A>G
c.15475A>G (p.Lys5159Glu)
c.15472A>G (p.Lys5158Glu)
c.15460A>G (p.Lys5154Glu)
c.15457A>G (p.Lys5153Glu)
c.15451A>G (p.Lys5151Glu)
c.15442A>G (p.Lys5148Glu)
c.15391A>G (p.Lys5131Glu)
c.15388A>G (p.Lys5130Glu)
c.15355A>G (p.Lys5119Glu)
c.15352A>G (p.Lys5118Glu)
c.15319A>G (p.Lys5107Glu)
c.15589A>G (p.Lys5197Glu)
c.15586A>G (p.Lys5196Glu)
c.15574A>G (p.Lys5192Glu)
c.15571A>G (p.Lys5191Glu)
c.15565A>G (p.Lys5189Glu)
c.15556A>G (p.Lys5186Glu)
c.15505A>G (p.Lys5169Glu)
c.15502A>G (p.Lys5168Glu)
c.15469A>G (p.Lys5157Glu)
c.15466A>G (p.Lys5156Glu)
c.15433A>G (p.Lys5145Glu)
c.15568A>G (p.Lys5190Glu)
c.15541A>G (p.Lys5181Glu)
c.15487A>G (p.Lys5163Glu)
c.15454A>G (p.Lys5152Glu)
c.15430A>G (p.Lys5144Glu)
c.15382A>G (p.Lys5128Glu)
c.15331A>G (p.Lys5111Glu)
1g.19077978T>GCA338748039UBR4c.15322A>C (p.Lys5108Gln)
c.2443A>C (p.Lys815Gln)
c.547A>C (p.Lys183Gln)
n.3329A>C
c.15475A>C (p.Lys5159Gln)
c.15472A>C (p.Lys5158Gln)
c.15460A>C (p.Lys5154Gln)
c.15457A>C (p.Lys5153Gln)
c.15451A>C (p.Lys5151Gln)
c.15442A>C (p.Lys5148Gln)
c.15391A>C (p.Lys5131Gln)
c.15388A>C (p.Lys5130Gln)
c.15355A>C (p.Lys5119Gln)
c.15352A>C (p.Lys5118Gln)
c.15319A>C (p.Lys5107Gln)
c.15589A>C (p.Lys5197Gln)
c.15586A>C (p.Lys5196Gln)
c.15574A>C (p.Lys5192Gln)
c.15571A>C (p.Lys5191Gln)
c.15565A>C (p.Lys5189Gln)
c.15556A>C (p.Lys5186Gln)
c.15505A>C (p.Lys5169Gln)
c.15502A>C (p.Lys5168Gln)
c.15469A>C (p.Lys5157Gln)
c.15466A>C (p.Lys5156Gln)
c.15433A>C (p.Lys5145Gln)
c.15568A>C (p.Lys5190Gln)
c.15541A>C (p.Lys5181Gln)
c.15487A>C (p.Lys5163Gln)
c.15454A>C (p.Lys5152Gln)
c.15430A>C (p.Lys5144Gln)
c.15382A>C (p.Lys5128Gln)
c.15331A>C (p.Lys5111Gln)
1g.19077979A>CCA338748041UBR4c.15321T>G (p.Phe5107Leu)
c.2442T>G (p.Phe814Leu)
c.546T>G (p.Phe182Leu)
n.3328T>G
c.15474T>G (p.Phe5158Leu)
c.15471T>G (p.Phe5157Leu)
c.15459T>G (p.Phe5153Leu)
c.15456T>G (p.Phe5152Leu)
c.15450T>G (p.Phe5150Leu)
c.15441T>G (p.Phe5147Leu)
c.15390T>G (p.Phe5130Leu)
c.15387T>G (p.Phe5129Leu)
c.15354T>G (p.Phe5118Leu)
c.15351T>G (p.Phe5117Leu)
c.15318T>G (p.Phe5106Leu)
c.15588T>G (p.Phe5196Leu)
c.15585T>G (p.Phe5195Leu)
c.15573T>G (p.Phe5191Leu)
c.15570T>G (p.Phe5190Leu)
c.15564T>G (p.Phe5188Leu)
c.15555T>G (p.Phe5185Leu)
c.15504T>G (p.Phe5168Leu)
c.15501T>G (p.Phe5167Leu)
c.15468T>G (p.Phe5156Leu)
c.15465T>G (p.Phe5155Leu)
c.15432T>G (p.Phe5144Leu)
c.15567T>G (p.Phe5189Leu)
c.15540T>G (p.Phe5180Leu)
c.15486T>G (p.Phe5162Leu)
c.15453T>G (p.Phe5151Leu)
c.15429T>G (p.Phe5143Leu)
c.15381T>G (p.Phe5127Leu)
c.15330T>G (p.Phe5110Leu)
1g.19077979A>GCA416452971UBR4c.15321T>C (p.Phe5107=)
c.2442T>C (p.Phe814=)
c.546T>C (p.Phe182=)
n.3328T>C
c.15474T>C (p.Phe5158=)
c.15471T>C (p.Phe5157=)
c.15459T>C (p.Phe5153=)
c.15456T>C (p.Phe5152=)
c.15450T>C (p.Phe5150=)
c.15441T>C (p.Phe5147=)
c.15390T>C (p.Phe5130=)
c.15387T>C (p.Phe5129=)
c.15354T>C (p.Phe5118=)
c.15351T>C (p.Phe5117=)
c.15318T>C (p.Phe5106=)
c.15588T>C (p.Phe5196=)
c.15585T>C (p.Phe5195=)
c.15573T>C (p.Phe5191=)
c.15570T>C (p.Phe5190=)
c.15564T>C (p.Phe5188=)
c.15555T>C (p.Phe5185=)
c.15504T>C (p.Phe5168=)
c.15501T>C (p.Phe5167=)
c.15468T>C (p.Phe5156=)
c.15465T>C (p.Phe5155=)
c.15432T>C (p.Phe5144=)
c.15567T>C (p.Phe5189=)
c.15540T>C (p.Phe5180=)
c.15486T>C (p.Phe5162=)
c.15453T>C (p.Phe5151=)
c.15429T>C (p.Phe5143=)
c.15381T>C (p.Phe5127=)
c.15330T>C (p.Phe5110=)
1g.19077979A>TCA338748043UBR4c.15321T>A (p.Phe5107Leu)
c.2442T>A (p.Phe814Leu)
c.546T>A (p.Phe182Leu)
n.3328T>A
c.15474T>A (p.Phe5158Leu)
c.15471T>A (p.Phe5157Leu)
c.15459T>A (p.Phe5153Leu)
c.15456T>A (p.Phe5152Leu)
c.15450T>A (p.Phe5150Leu)
c.15441T>A (p.Phe5147Leu)
c.15390T>A (p.Phe5130Leu)
c.15387T>A (p.Phe5129Leu)
c.15354T>A (p.Phe5118Leu)
c.15351T>A (p.Phe5117Leu)
c.15318T>A (p.Phe5106Leu)
c.15588T>A (p.Phe5196Leu)
c.15585T>A (p.Phe5195Leu)
c.15573T>A (p.Phe5191Leu)
c.15570T>A (p.Phe5190Leu)
c.15564T>A (p.Phe5188Leu)
c.15555T>A (p.Phe5185Leu)
c.15504T>A (p.Phe5168Leu)
c.15501T>A (p.Phe5167Leu)
c.15468T>A (p.Phe5156Leu)
c.15465T>A (p.Phe5155Leu)
c.15432T>A (p.Phe5144Leu)
c.15567T>A (p.Phe5189Leu)
c.15540T>A (p.Phe5180Leu)
c.15486T>A (p.Phe5162Leu)
c.15453T>A (p.Phe5151Leu)
c.15429T>A (p.Phe5143Leu)
c.15381T>A (p.Phe5127Leu)
c.15330T>A (p.Phe5110Leu)
1g.19077980A>CCA338748049UBR4c.15320T>G (p.Phe5107Cys)
c.2441T>G (p.Phe814Cys)
c.545T>G (p.Phe182Cys)
n.3327T>G
c.15473T>G (p.Phe5158Cys)
c.15470T>G (p.Phe5157Cys)
c.15458T>G (p.Phe5153Cys)
c.15455T>G (p.Phe5152Cys)
c.15449T>G (p.Phe5150Cys)
c.15440T>G (p.Phe5147Cys)
c.15389T>G (p.Phe5130Cys)
c.15386T>G (p.Phe5129Cys)
c.15353T>G (p.Phe5118Cys)
c.15350T>G (p.Phe5117Cys)
c.15317T>G (p.Phe5106Cys)
c.15587T>G (p.Phe5196Cys)
c.15584T>G (p.Phe5195Cys)
c.15572T>G (p.Phe5191Cys)
c.15569T>G (p.Phe5190Cys)
c.15563T>G (p.Phe5188Cys)
c.15554T>G (p.Phe5185Cys)
c.15503T>G (p.Phe5168Cys)
c.15500T>G (p.Phe5167Cys)
c.15467T>G (p.Phe5156Cys)
c.15464T>G (p.Phe5155Cys)
c.15431T>G (p.Phe5144Cys)
c.15566T>G (p.Phe5189Cys)
c.15539T>G (p.Phe5180Cys)
c.15485T>G (p.Phe5162Cys)
c.15452T>G (p.Phe5151Cys)
c.15428T>G (p.Phe5143Cys)
c.15380T>G (p.Phe5127Cys)
c.15329T>G (p.Phe5110Cys)
1g.19077980A>GCA338748047UBR4c.15320T>C (p.Phe5107Ser)
c.2441T>C (p.Phe814Ser)
c.545T>C (p.Phe182Ser)
n.3327T>C
c.15473T>C (p.Phe5158Ser)
c.15470T>C (p.Phe5157Ser)
c.15458T>C (p.Phe5153Ser)
c.15455T>C (p.Phe5152Ser)
c.15449T>C (p.Phe5150Ser)
c.15440T>C (p.Phe5147Ser)
c.15389T>C (p.Phe5130Ser)
c.15386T>C (p.Phe5129Ser)
c.15353T>C (p.Phe5118Ser)
c.15350T>C (p.Phe5117Ser)
c.15317T>C (p.Phe5106Ser)
c.15587T>C (p.Phe5196Ser)
c.15584T>C (p.Phe5195Ser)
c.15572T>C (p.Phe5191Ser)
c.15569T>C (p.Phe5190Ser)
c.15563T>C (p.Phe5188Ser)
c.15554T>C (p.Phe5185Ser)
c.15503T>C (p.Phe5168Ser)
c.15500T>C (p.Phe5167Ser)
c.15467T>C (p.Phe5156Ser)
c.15464T>C (p.Phe5155Ser)
c.15431T>C (p.Phe5144Ser)
c.15566T>C (p.Phe5189Ser)
c.15539T>C (p.Phe5180Ser)
c.15485T>C (p.Phe5162Ser)
c.15452T>C (p.Phe5151Ser)
c.15428T>C (p.Phe5143Ser)
c.15380T>C (p.Phe5127Ser)
c.15329T>C (p.Phe5110Ser)
1g.19077980A>TCA338748045UBR4c.15320T>A (p.Phe5107Tyr)
c.2441T>A (p.Phe814Tyr)
c.545T>A (p.Phe182Tyr)
n.3327T>A
c.15473T>A (p.Phe5158Tyr)
c.15470T>A (p.Phe5157Tyr)
c.15458T>A (p.Phe5153Tyr)
c.15455T>A (p.Phe5152Tyr)
c.15449T>A (p.Phe5150Tyr)
c.15440T>A (p.Phe5147Tyr)
c.15389T>A (p.Phe5130Tyr)
c.15386T>A (p.Phe5129Tyr)
c.15353T>A (p.Phe5118Tyr)
c.15350T>A (p.Phe5117Tyr)
c.15317T>A (p.Phe5106Tyr)
c.15587T>A (p.Phe5196Tyr)
c.15584T>A (p.Phe5195Tyr)
c.15572T>A (p.Phe5191Tyr)
c.15569T>A (p.Phe5190Tyr)
c.15563T>A (p.Phe5188Tyr)
c.15554T>A (p.Phe5185Tyr)
c.15503T>A (p.Phe5168Tyr)
c.15500T>A (p.Phe5167Tyr)
c.15467T>A (p.Phe5156Tyr)
c.15464T>A (p.Phe5155Tyr)
c.15431T>A (p.Phe5144Tyr)
c.15566T>A (p.Phe5189Tyr)
c.15539T>A (p.Phe5180Tyr)
c.15485T>A (p.Phe5162Tyr)
c.15452T>A (p.Phe5151Tyr)
c.15428T>A (p.Phe5143Tyr)
c.15380T>A (p.Phe5127Tyr)
c.15329T>A (p.Phe5110Tyr)
1g.19077981A>CCA338748051UBR4c.15319T>G (p.Phe5107Val)
c.2440T>G (p.Phe814Val)
c.544T>G (p.Phe182Val)
n.3326T>G
c.15472T>G (p.Phe5158Val)
c.15469T>G (p.Phe5157Val)
c.15457T>G (p.Phe5153Val)
c.15454T>G (p.Phe5152Val)
c.15448T>G (p.Phe5150Val)
c.15439T>G (p.Phe5147Val)
c.15388T>G (p.Phe5130Val)
c.15385T>G (p.Phe5129Val)
c.15352T>G (p.Phe5118Val)
c.15349T>G (p.Phe5117Val)
c.15316T>G (p.Phe5106Val)
c.15586T>G (p.Phe5196Val)
c.15583T>G (p.Phe5195Val)
c.15571T>G (p.Phe5191Val)
c.15568T>G (p.Phe5190Val)
c.15562T>G (p.Phe5188Val)
c.15553T>G (p.Phe5185Val)
c.15502T>G (p.Phe5168Val)
c.15499T>G (p.Phe5167Val)
c.15466T>G (p.Phe5156Val)
c.15463T>G (p.Phe5155Val)
c.15430T>G (p.Phe5144Val)
c.15565T>G (p.Phe5189Val)
c.15538T>G (p.Phe5180Val)
c.15484T>G (p.Phe5162Val)
c.15451T>G (p.Phe5151Val)
c.15427T>G (p.Phe5143Val)
c.15379T>G (p.Phe5127Val)
c.15328T>G (p.Phe5110Val)
1g.19077981A>GCA338748053UBR4c.15319T>C (p.Phe5107Leu)
c.2440T>C (p.Phe814Leu)
c.544T>C (p.Phe182Leu)
n.3326T>C
c.15472T>C (p.Phe5158Leu)
c.15469T>C (p.Phe5157Leu)
c.15457T>C (p.Phe5153Leu)
c.15454T>C (p.Phe5152Leu)
c.15448T>C (p.Phe5150Leu)
c.15439T>C (p.Phe5147Leu)
c.15388T>C (p.Phe5130Leu)
c.15385T>C (p.Phe5129Leu)
c.15352T>C (p.Phe5118Leu)
c.15349T>C (p.Phe5117Leu)
c.15316T>C (p.Phe5106Leu)
c.15586T>C (p.Phe5196Leu)
c.15583T>C (p.Phe5195Leu)
c.15571T>C (p.Phe5191Leu)
c.15568T>C (p.Phe5190Leu)
c.15562T>C (p.Phe5188Leu)
c.15553T>C (p.Phe5185Leu)
c.15502T>C (p.Phe5168Leu)
c.15499T>C (p.Phe5167Leu)
c.15466T>C (p.Phe5156Leu)
c.15463T>C (p.Phe5155Leu)
c.15430T>C (p.Phe5144Leu)
c.15565T>C (p.Phe5189Leu)
c.15538T>C (p.Phe5180Leu)
c.15484T>C (p.Phe5162Leu)
c.15451T>C (p.Phe5151Leu)
c.15427T>C (p.Phe5143Leu)
c.15379T>C (p.Phe5127Leu)
c.15328T>C (p.Phe5110Leu)
1g.19077981A>TCA338748055UBR4c.15319T>A (p.Phe5107Ile)
c.2440T>A (p.Phe814Ile)
c.544T>A (p.Phe182Ile)
n.3326T>A
c.15472T>A (p.Phe5158Ile)
c.15469T>A (p.Phe5157Ile)
c.15457T>A (p.Phe5153Ile)
c.15454T>A (p.Phe5152Ile)
c.15448T>A (p.Phe5150Ile)
c.15439T>A (p.Phe5147Ile)
c.15388T>A (p.Phe5130Ile)
c.15385T>A (p.Phe5129Ile)
c.15352T>A (p.Phe5118Ile)
c.15349T>A (p.Phe5117Ile)
c.15316T>A (p.Phe5106Ile)
c.15586T>A (p.Phe5196Ile)
c.15583T>A (p.Phe5195Ile)
c.15571T>A (p.Phe5191Ile)
c.15568T>A (p.Phe5190Ile)
c.15562T>A (p.Phe5188Ile)
c.15553T>A (p.Phe5185Ile)
c.15502T>A (p.Phe5168Ile)
c.15499T>A (p.Phe5167Ile)
c.15466T>A (p.Phe5156Ile)
c.15463T>A (p.Phe5155Ile)
c.15430T>A (p.Phe5144Ile)
c.15565T>A (p.Phe5189Ile)
c.15538T>A (p.Phe5180Ile)
c.15484T>A (p.Phe5162Ile)
c.15451T>A (p.Phe5151Ile)
c.15427T>A (p.Phe5143Ile)
c.15379T>A (p.Phe5127Ile)
c.15328T>A (p.Phe5110Ile)
1g.19077982C>ACA338748057UBR4c.15318G>T (p.Met5106Ile)
c.2439G>T (p.Met813Ile)
c.543G>T (p.Met181Ile)
n.3325G>T
c.15471G>T (p.Met5157Ile)
c.15468G>T (p.Met5156Ile)
c.15456G>T (p.Met5152Ile)
c.15453G>T (p.Met5151Ile)
c.15447G>T (p.Met5149Ile)
c.15438G>T (p.Met5146Ile)
c.15387G>T (p.Met5129Ile)
c.15384G>T (p.Met5128Ile)
c.15351G>T (p.Met5117Ile)
c.15348G>T (p.Met5116Ile)
c.15315G>T (p.Met5105Ile)
c.15585G>T (p.Met5195Ile)
c.15582G>T (p.Met5194Ile)
c.15570G>T (p.Met5190Ile)
c.15567G>T (p.Met5189Ile)
c.15561G>T (p.Met5187Ile)
c.15552G>T (p.Met5184Ile)
c.15501G>T (p.Met5167Ile)
c.15498G>T (p.Met5166Ile)
c.15465G>T (p.Met5155Ile)
c.15462G>T (p.Met5154Ile)
c.15429G>T (p.Met5143Ile)
c.15564G>T (p.Met5188Ile)
c.15537G>T (p.Met5179Ile)
c.15483G>T (p.Met5161Ile)
c.15450G>T (p.Met5150Ile)
c.15426G>T (p.Met5142Ile)
c.15378G>T (p.Met5126Ile)
c.15327G>T (p.Met5109Ile)
1g.19077982C>GCA338748059UBR4c.15318G>C (p.Met5106Ile)
c.2439G>C (p.Met813Ile)
c.543G>C (p.Met181Ile)
n.3325G>C
c.15471G>C (p.Met5157Ile)
c.15468G>C (p.Met5156Ile)
c.15456G>C (p.Met5152Ile)
c.15453G>C (p.Met5151Ile)
c.15447G>C (p.Met5149Ile)
c.15438G>C (p.Met5146Ile)
c.15387G>C (p.Met5129Ile)
c.15384G>C (p.Met5128Ile)
c.15351G>C (p.Met5117Ile)
c.15348G>C (p.Met5116Ile)
c.15315G>C (p.Met5105Ile)
c.15585G>C (p.Met5195Ile)
c.15582G>C (p.Met5194Ile)
c.15570G>C (p.Met5190Ile)
c.15567G>C (p.Met5189Ile)
c.15561G>C (p.Met5187Ile)
c.15552G>C (p.Met5184Ile)
c.15501G>C (p.Met5167Ile)
c.15498G>C (p.Met5166Ile)
c.15465G>C (p.Met5155Ile)
c.15462G>C (p.Met5154Ile)
c.15429G>C (p.Met5143Ile)
c.15564G>C (p.Met5188Ile)
c.15537G>C (p.Met5179Ile)
c.15483G>C (p.Met5161Ile)
c.15450G>C (p.Met5150Ile)
c.15426G>C (p.Met5142Ile)
c.15378G>C (p.Met5126Ile)
c.15327G>C (p.Met5109Ile)
1g.19077982C>TCA338748061UBR4c.15318G>A (p.Met5106Ile)
c.2439G>A (p.Met813Ile)
c.543G>A (p.Met181Ile)
n.3325G>A
c.15471G>A (p.Met5157Ile)
c.15468G>A (p.Met5156Ile)
c.15456G>A (p.Met5152Ile)
c.15453G>A (p.Met5151Ile)
c.15447G>A (p.Met5149Ile)
c.15438G>A (p.Met5146Ile)
c.15387G>A (p.Met5129Ile)
c.15384G>A (p.Met5128Ile)
c.15351G>A (p.Met5117Ile)
c.15348G>A (p.Met5116Ile)
c.15315G>A (p.Met5105Ile)
c.15585G>A (p.Met5195Ile)
c.15582G>A (p.Met5194Ile)
c.15570G>A (p.Met5190Ile)
c.15567G>A (p.Met5189Ile)
c.15561G>A (p.Met5187Ile)
c.15552G>A (p.Met5184Ile)
c.15501G>A (p.Met5167Ile)
c.15498G>A (p.Met5166Ile)
c.15465G>A (p.Met5155Ile)
c.15462G>A (p.Met5154Ile)
c.15429G>A (p.Met5143Ile)
c.15564G>A (p.Met5188Ile)
c.15537G>A (p.Met5179Ile)
c.15483G>A (p.Met5161Ile)
c.15450G>A (p.Met5150Ile)
c.15426G>A (p.Met5142Ile)
c.15378G>A (p.Met5126Ile)
c.15327G>A (p.Met5109Ile)
1g.19077983A=CA1156956063UBR4c.15317T= (p.Met5106=)
c.2438T= (p.Met813=)
c.542T= (p.Met181=)
n.3324T=
c.15470T= (p.Met5157=)
c.15467T= (p.Met5156=)
c.15455T= (p.Met5152=)
c.15452T= (p.Met5151=)
c.15446T= (p.Met5149=)
c.15437T= (p.Met5146=)
c.15386T= (p.Met5129=)
c.15383T= (p.Met5128=)
c.15350T= (p.Met5117=)
c.15347T= (p.Met5116=)
c.15314T= (p.Met5105=)
c.15584T= (p.Met5195=)
c.15581T= (p.Met5194=)
c.15569T= (p.Met5190=)
c.15566T= (p.Met5189=)
c.15560T= (p.Met5187=)
c.15551T= (p.Met5184=)
c.15500T= (p.Met5167=)
c.15497T= (p.Met5166=)
c.15464T= (p.Met5155=)
c.15461T= (p.Met5154=)
c.15428T= (p.Met5143=)
c.15563T= (p.Met5188=)
c.15536T= (p.Met5179=)
c.15482T= (p.Met5161=)
c.15449T= (p.Met5150=)
c.15425T= (p.Met5142=)
c.15377T= (p.Met5126=)
c.15326T= (p.Met5109=)
1g.19077983A>CCA647909UBR4c.15317T>G (p.Met5106Arg)
c.2438T>G (p.Met813Arg)
c.542T>G (p.Met181Arg)
n.3324T>G
c.15470T>G (p.Met5157Arg)
c.15467T>G (p.Met5156Arg)
c.15455T>G (p.Met5152Arg)
c.15452T>G (p.Met5151Arg)
c.15446T>G (p.Met5149Arg)
c.15437T>G (p.Met5146Arg)
c.15386T>G (p.Met5129Arg)
c.15383T>G (p.Met5128Arg)
c.15350T>G (p.Met5117Arg)
c.15347T>G (p.Met5116Arg)
c.15314T>G (p.Met5105Arg)
c.15584T>G (p.Met5195Arg)
c.15581T>G (p.Met5194Arg)
c.15569T>G (p.Met5190Arg)
c.15566T>G (p.Met5189Arg)
c.15560T>G (p.Met5187Arg)
c.15551T>G (p.Met5184Arg)
c.15500T>G (p.Met5167Arg)
c.15497T>G (p.Met5166Arg)
c.15464T>G (p.Met5155Arg)
c.15461T>G (p.Met5154Arg)
c.15428T>G (p.Met5143Arg)
c.15563T>G (p.Met5188Arg)
c.15536T>G (p.Met5179Arg)
c.15482T>G (p.Met5161Arg)
c.15449T>G (p.Met5150Arg)
c.15425T>G (p.Met5142Arg)
c.15377T>G (p.Met5126Arg)
c.15326T>G (p.Met5109Arg)
 dbSNP ExAC gnomAD v2
1g.19077983A>GCA647908UBR4c.15317T>C (p.Met5106Thr)
c.2438T>C (p.Met813Thr)
c.542T>C (p.Met181Thr)
n.3324T>C
c.15470T>C (p.Met5157Thr)
c.15467T>C (p.Met5156Thr)
c.15455T>C (p.Met5152Thr)
c.15452T>C (p.Met5151Thr)
c.15446T>C (p.Met5149Thr)
c.15437T>C (p.Met5146Thr)
c.15386T>C (p.Met5129Thr)
c.15383T>C (p.Met5128Thr)
c.15350T>C (p.Met5117Thr)
c.15347T>C (p.Met5116Thr)
c.15314T>C (p.Met5105Thr)
c.15584T>C (p.Met5195Thr)
c.15581T>C (p.Met5194Thr)
c.15569T>C (p.Met5190Thr)
c.15566T>C (p.Met5189Thr)
c.15560T>C (p.Met5187Thr)
c.15551T>C (p.Met5184Thr)
c.15500T>C (p.Met5167Thr)
c.15497T>C (p.Met5166Thr)
c.15464T>C (p.Met5155Thr)
c.15461T>C (p.Met5154Thr)
c.15428T>C (p.Met5143Thr)
c.15563T>C (p.Met5188Thr)
c.15536T>C (p.Met5179Thr)
c.15482T>C (p.Met5161Thr)
c.15449T>C (p.Met5150Thr)
c.15425T>C (p.Met5142Thr)
c.15377T>C (p.Met5126Thr)
c.15326T>C (p.Met5109Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19077983A>TCA338748066UBR4c.15317T>A (p.Met5106Lys)
c.2438T>A (p.Met813Lys)
c.542T>A (p.Met181Lys)
n.3324T>A
c.15470T>A (p.Met5157Lys)
c.15467T>A (p.Met5156Lys)
c.15455T>A (p.Met5152Lys)
c.15452T>A (p.Met5151Lys)
c.15446T>A (p.Met5149Lys)
c.15437T>A (p.Met5146Lys)
c.15386T>A (p.Met5129Lys)
c.15383T>A (p.Met5128Lys)
c.15350T>A (p.Met5117Lys)
c.15347T>A (p.Met5116Lys)
c.15314T>A (p.Met5105Lys)
c.15584T>A (p.Met5195Lys)
c.15581T>A (p.Met5194Lys)
c.15569T>A (p.Met5190Lys)
c.15566T>A (p.Met5189Lys)
c.15560T>A (p.Met5187Lys)
c.15551T>A (p.Met5184Lys)
c.15500T>A (p.Met5167Lys)
c.15497T>A (p.Met5166Lys)
c.15464T>A (p.Met5155Lys)
c.15461T>A (p.Met5154Lys)
c.15428T>A (p.Met5143Lys)
c.15563T>A (p.Met5188Lys)
c.15536T>A (p.Met5179Lys)
c.15482T>A (p.Met5161Lys)
c.15449T>A (p.Met5150Lys)
c.15425T>A (p.Met5142Lys)
c.15377T>A (p.Met5126Lys)
c.15326T>A (p.Met5109Lys)
1g.19077983_19077986delinsATGTCA1156956062UBR4c.15314_15317delinsACAT (p.Asn5105=)
c.2435_2438delinsACAT (p.Asn812=)
c.539_542delinsACAT (p.Asn180=)
n.3321_3324delinsACAT
c.15467_15470delinsACAT (p.Asn5156=)
c.15464_15467delinsACAT (p.Asn5155=)
c.15452_15455delinsACAT (p.Asn5151=)
c.15449_15452delinsACAT (p.Asn5150=)
c.15443_15446delinsACAT (p.Asn5148=)
c.15434_15437delinsACAT (p.Asn5145=)
c.15383_15386delinsACAT (p.Asn5128=)
c.15380_15383delinsACAT (p.Asn5127=)
c.15347_15350delinsACAT (p.Asn5116=)
c.15344_15347delinsACAT (p.Asn5115=)
c.15311_15314delinsACAT (p.Asn5104=)
c.15581_15584delinsACAT (p.Asn5194=)
c.15578_15581delinsACAT (p.Asn5193=)
c.15566_15569delinsACAT (p.Asn5189=)
c.15563_15566delinsACAT (p.Asn5188=)
c.15557_15560delinsACAT (p.Asn5186=)
c.15548_15551delinsACAT (p.Asn5183=)
c.15497_15500delinsACAT (p.Asn5166=)
c.15494_15497delinsACAT (p.Asn5165=)
c.15461_15464delinsACAT (p.Asn5154=)
c.15458_15461delinsACAT (p.Asn5153=)
c.15425_15428delinsACAT (p.Asn5142=)
c.15560_15563delinsACAT (p.Asn5187=)
c.15533_15536delinsACAT (p.Asn5178=)
c.15479_15482delinsACAT (p.Asn5160=)
c.15446_15449delinsACAT (p.Asn5149=)
c.15422_15425delinsACAT (p.Asn5141=)
c.15374_15377delinsACAT (p.Asn5125=)
c.15323_15326delinsACAT (p.Asn5108=)
1g.19077984T>ACA338748068UBR4c.15316A>T (p.Met5106Leu)
c.2437A>T (p.Met813Leu)
c.541A>T (p.Met181Leu)
n.3323A>T
c.15469A>T (p.Met5157Leu)
c.15466A>T (p.Met5156Leu)
c.15454A>T (p.Met5152Leu)
c.15451A>T (p.Met5151Leu)
c.15445A>T (p.Met5149Leu)
c.15436A>T (p.Met5146Leu)
c.15385A>T (p.Met5129Leu)
c.15382A>T (p.Met5128Leu)
c.15349A>T (p.Met5117Leu)
c.15346A>T (p.Met5116Leu)
c.15313A>T (p.Met5105Leu)
c.15583A>T (p.Met5195Leu)
c.15580A>T (p.Met5194Leu)
c.15568A>T (p.Met5190Leu)
c.15565A>T (p.Met5189Leu)
c.15559A>T (p.Met5187Leu)
c.15550A>T (p.Met5184Leu)
c.15499A>T (p.Met5167Leu)
c.15496A>T (p.Met5166Leu)
c.15463A>T (p.Met5155Leu)
c.15460A>T (p.Met5154Leu)
c.15427A>T (p.Met5143Leu)
c.15562A>T (p.Met5188Leu)
c.15535A>T (p.Met5179Leu)
c.15481A>T (p.Met5161Leu)
c.15448A>T (p.Met5150Leu)
c.15424A>T (p.Met5142Leu)
c.15376A>T (p.Met5126Leu)
c.15325A>T (p.Met5109Leu)
 gnomAD v4
1g.19077984T>CCA338748069UBR4c.15316A>G (p.Met5106Val)
c.2437A>G (p.Met813Val)
c.541A>G (p.Met181Val)
n.3323A>G
c.15469A>G (p.Met5157Val)
c.15466A>G (p.Met5156Val)
c.15454A>G (p.Met5152Val)
c.15451A>G (p.Met5151Val)
c.15445A>G (p.Met5149Val)
c.15436A>G (p.Met5146Val)
c.15385A>G (p.Met5129Val)
c.15382A>G (p.Met5128Val)
c.15349A>G (p.Met5117Val)
c.15346A>G (p.Met5116Val)
c.15313A>G (p.Met5105Val)
c.15583A>G (p.Met5195Val)
c.15580A>G (p.Met5194Val)
c.15568A>G (p.Met5190Val)
c.15565A>G (p.Met5189Val)
c.15559A>G (p.Met5187Val)
c.15550A>G (p.Met5184Val)
c.15499A>G (p.Met5167Val)
c.15496A>G (p.Met5166Val)
c.15463A>G (p.Met5155Val)
c.15460A>G (p.Met5154Val)
c.15427A>G (p.Met5143Val)
c.15562A>G (p.Met5188Val)
c.15535A>G (p.Met5179Val)
c.15481A>G (p.Met5161Val)
c.15448A>G (p.Met5150Val)
c.15424A>G (p.Met5142Val)
c.15376A>G (p.Met5126Val)
c.15325A>G (p.Met5109Val)
 dbSNP gnomAD v2 gnomAD v4
1g.19077984T>GCA338748071UBR4c.15316A>C (p.Met5106Leu)
c.2437A>C (p.Met813Leu)
c.541A>C (p.Met181Leu)
n.3323A>C
c.15469A>C (p.Met5157Leu)
c.15466A>C (p.Met5156Leu)
c.15454A>C (p.Met5152Leu)
c.15451A>C (p.Met5151Leu)
c.15445A>C (p.Met5149Leu)
c.15436A>C (p.Met5146Leu)
c.15385A>C (p.Met5129Leu)
c.15382A>C (p.Met5128Leu)
c.15349A>C (p.Met5117Leu)
c.15346A>C (p.Met5116Leu)
c.15313A>C (p.Met5105Leu)
c.15583A>C (p.Met5195Leu)
c.15580A>C (p.Met5194Leu)
c.15568A>C (p.Met5190Leu)
c.15565A>C (p.Met5189Leu)
c.15559A>C (p.Met5187Leu)
c.15550A>C (p.Met5184Leu)
c.15499A>C (p.Met5167Leu)
c.15496A>C (p.Met5166Leu)
c.15463A>C (p.Met5155Leu)
c.15460A>C (p.Met5154Leu)
c.15427A>C (p.Met5143Leu)
c.15562A>C (p.Met5188Leu)
c.15535A>C (p.Met5179Leu)
c.15481A>C (p.Met5161Leu)
c.15448A>C (p.Met5150Leu)
c.15424A>C (p.Met5142Leu)
c.15376A>C (p.Met5126Leu)
c.15325A>C (p.Met5109Leu)
1g.19077984T=CA1156956065UBR4c.15316A= (p.Met5106=)
c.2437A= (p.Met813=)
c.541A= (p.Met181=)
n.3323A=
c.15469A= (p.Met5157=)
c.15466A= (p.Met5156=)
c.15454A= (p.Met5152=)
c.15451A= (p.Met5151=)
c.15445A= (p.Met5149=)
c.15436A= (p.Met5146=)
c.15385A= (p.Met5129=)
c.15382A= (p.Met5128=)
c.15349A= (p.Met5117=)
c.15346A= (p.Met5116=)
c.15313A= (p.Met5105=)
c.15583A= (p.Met5195=)
c.15580A= (p.Met5194=)
c.15568A= (p.Met5190=)
c.15565A= (p.Met5189=)
c.15559A= (p.Met5187=)
c.15550A= (p.Met5184=)
c.15499A= (p.Met5167=)
c.15496A= (p.Met5166=)
c.15463A= (p.Met5155=)
c.15460A= (p.Met5154=)
c.15427A= (p.Met5143=)
c.15562A= (p.Met5188=)
c.15535A= (p.Met5179=)
c.15481A= (p.Met5161=)
c.15448A= (p.Met5150=)
c.15424A= (p.Met5142=)
c.15376A= (p.Met5126=)
c.15325A= (p.Met5109=)
1g.19077987_19077989delCA1156956064UBR4c.15314_15316del (p.Asn5105del)
c.2435_2437del (p.Asn812del)
c.539_541del (p.Asn180del)
n.3321_3323del
c.15467_15469del (p.Asn5156del)
c.15464_15466del (p.Asn5155del)
c.15452_15454del (p.Asn5151del)
c.15449_15451del (p.Asn5150del)
c.15443_15445del (p.Asn5148del)
c.15434_15436del (p.Asn5145del)
c.15383_15385del (p.Asn5128del)
c.15380_15382del (p.Asn5127del)
c.15347_15349del (p.Asn5116del)
c.15344_15346del (p.Asn5115del)
c.15311_15313del (p.Asn5104del)
c.15581_15583del (p.Asn5194del)
c.15578_15580del (p.Asn5193del)
c.15566_15568del (p.Asn5189del)
c.15563_15565del (p.Asn5188del)
c.15557_15559del (p.Asn5186del)
c.15548_15550del (p.Asn5183del)
c.15497_15499del (p.Asn5166del)
c.15494_15496del (p.Asn5165del)
c.15461_15463del (p.Asn5154del)
c.15458_15460del (p.Asn5153del)
c.15425_15427del (p.Asn5142del)
c.15560_15562del (p.Asn5187del)
c.15533_15535del (p.Asn5178del)
c.15479_15481del (p.Asn5160del)
c.15446_15448del (p.Asn5149del)
c.15422_15424del (p.Asn5141del)
c.15374_15376del (p.Asn5125del)
c.15323_15325del (p.Asn5108del)
 dbSNP gnomAD v4
1g.19077985G>ACA416453002UBR4c.15315C>T (p.Asn5105=)
c.2436C>T (p.Asn812=)
c.540C>T (p.Asn180=)
n.3322C>T
c.15468C>T (p.Asn5156=)
c.15465C>T (p.Asn5155=)
c.15453C>T (p.Asn5151=)
c.15450C>T (p.Asn5150=)
c.15444C>T (p.Asn5148=)
c.15435C>T (p.Asn5145=)
c.15384C>T (p.Asn5128=)
c.15381C>T (p.Asn5127=)
c.15348C>T (p.Asn5116=)
c.15345C>T (p.Asn5115=)
c.15312C>T (p.Asn5104=)
c.15582C>T (p.Asn5194=)
c.15579C>T (p.Asn5193=)
c.15567C>T (p.Asn5189=)
c.15564C>T (p.Asn5188=)
c.15558C>T (p.Asn5186=)
c.15549C>T (p.Asn5183=)
c.15498C>T (p.Asn5166=)
c.15495C>T (p.Asn5165=)
c.15462C>T (p.Asn5154=)
c.15459C>T (p.Asn5153=)
c.15426C>T (p.Asn5142=)
c.15561C>T (p.Asn5187=)
c.15534C>T (p.Asn5178=)
c.15480C>T (p.Asn5160=)
c.15447C>T (p.Asn5149=)
c.15423C>T (p.Asn5141=)
c.15375C>T (p.Asn5125=)
c.15324C>T (p.Asn5108=)
1g.19077985G>CCA338748072UBR4c.15315C>G (p.Asn5105Lys)
c.2436C>G (p.Asn812Lys)
c.540C>G (p.Asn180Lys)
n.3322C>G
c.15468C>G (p.Asn5156Lys)
c.15465C>G (p.Asn5155Lys)
c.15453C>G (p.Asn5151Lys)
c.15450C>G (p.Asn5150Lys)
c.15444C>G (p.Asn5148Lys)
c.15435C>G (p.Asn5145Lys)
c.15384C>G (p.Asn5128Lys)
c.15381C>G (p.Asn5127Lys)
c.15348C>G (p.Asn5116Lys)
c.15345C>G (p.Asn5115Lys)
c.15312C>G (p.Asn5104Lys)
c.15582C>G (p.Asn5194Lys)
c.15579C>G (p.Asn5193Lys)
c.15567C>G (p.Asn5189Lys)
c.15564C>G (p.Asn5188Lys)
c.15558C>G (p.Asn5186Lys)
c.15549C>G (p.Asn5183Lys)
c.15498C>G (p.Asn5166Lys)
c.15495C>G (p.Asn5165Lys)
c.15462C>G (p.Asn5154Lys)
c.15459C>G (p.Asn5153Lys)
c.15426C>G (p.Asn5142Lys)
c.15561C>G (p.Asn5187Lys)
c.15534C>G (p.Asn5178Lys)
c.15480C>G (p.Asn5160Lys)
c.15447C>G (p.Asn5149Lys)
c.15423C>G (p.Asn5141Lys)
c.15375C>G (p.Asn5125Lys)
c.15324C>G (p.Asn5108Lys)
1g.19077985G>TCA338748074UBR4c.15315C>A (p.Asn5105Lys)
c.2436C>A (p.Asn812Lys)
c.540C>A (p.Asn180Lys)
n.3322C>A
c.15468C>A (p.Asn5156Lys)
c.15465C>A (p.Asn5155Lys)
c.15453C>A (p.Asn5151Lys)
c.15450C>A (p.Asn5150Lys)
c.15444C>A (p.Asn5148Lys)
c.15435C>A (p.Asn5145Lys)
c.15384C>A (p.Asn5128Lys)
c.15381C>A (p.Asn5127Lys)
c.15348C>A (p.Asn5116Lys)
c.15345C>A (p.Asn5115Lys)
c.15312C>A (p.Asn5104Lys)
c.15582C>A (p.Asn5194Lys)
c.15579C>A (p.Asn5193Lys)
c.15567C>A (p.Asn5189Lys)
c.15564C>A (p.Asn5188Lys)
c.15558C>A (p.Asn5186Lys)
c.15549C>A (p.Asn5183Lys)
c.15498C>A (p.Asn5166Lys)
c.15495C>A (p.Asn5165Lys)
c.15462C>A (p.Asn5154Lys)
c.15459C>A (p.Asn5153Lys)
c.15426C>A (p.Asn5142Lys)
c.15561C>A (p.Asn5187Lys)
c.15534C>A (p.Asn5178Lys)
c.15480C>A (p.Asn5160Lys)
c.15447C>A (p.Asn5149Lys)
c.15423C>A (p.Asn5141Lys)
c.15375C>A (p.Asn5125Lys)
c.15324C>A (p.Asn5108Lys)
1g.19077986T>ACA338748078UBR4c.15314A>T (p.Asn5105Ile)
c.2435A>T (p.Asn812Ile)
c.539A>T (p.Asn180Ile)
n.3321A>T
c.15467A>T (p.Asn5156Ile)
c.15464A>T (p.Asn5155Ile)
c.15452A>T (p.Asn5151Ile)
c.15449A>T (p.Asn5150Ile)
c.15443A>T (p.Asn5148Ile)
c.15434A>T (p.Asn5145Ile)
c.15383A>T (p.Asn5128Ile)
c.15380A>T (p.Asn5127Ile)
c.15347A>T (p.Asn5116Ile)
c.15344A>T (p.Asn5115Ile)
c.15311A>T (p.Asn5104Ile)
c.15581A>T (p.Asn5194Ile)
c.15578A>T (p.Asn5193Ile)
c.15566A>T (p.Asn5189Ile)
c.15563A>T (p.Asn5188Ile)
c.15557A>T (p.Asn5186Ile)
c.15548A>T (p.Asn5183Ile)
c.15497A>T (p.Asn5166Ile)
c.15494A>T (p.Asn5165Ile)
c.15461A>T (p.Asn5154Ile)
c.15458A>T (p.Asn5153Ile)
c.15425A>T (p.Asn5142Ile)
c.15560A>T (p.Asn5187Ile)
c.15533A>T (p.Asn5178Ile)
c.15479A>T (p.Asn5160Ile)
c.15446A>T (p.Asn5149Ile)
c.15422A>T (p.Asn5141Ile)
c.15374A>T (p.Asn5125Ile)
c.15323A>T (p.Asn5108Ile)
 gnomAD v4
1g.19077986T>CCA647910UBR4c.15314A>G (p.Asn5105Ser)
c.2435A>G (p.Asn812Ser)
c.539A>G (p.Asn180Ser)
n.3321A>G
c.15467A>G (p.Asn5156Ser)
c.15464A>G (p.Asn5155Ser)
c.15452A>G (p.Asn5151Ser)
c.15449A>G (p.Asn5150Ser)
c.15443A>G (p.Asn5148Ser)
c.15434A>G (p.Asn5145Ser)
c.15383A>G (p.Asn5128Ser)
c.15380A>G (p.Asn5127Ser)
c.15347A>G (p.Asn5116Ser)
c.15344A>G (p.Asn5115Ser)
c.15311A>G (p.Asn5104Ser)
c.15581A>G (p.Asn5194Ser)
c.15578A>G (p.Asn5193Ser)
c.15566A>G (p.Asn5189Ser)
c.15563A>G (p.Asn5188Ser)
c.15557A>G (p.Asn5186Ser)
c.15548A>G (p.Asn5183Ser)
c.15497A>G (p.Asn5166Ser)
c.15494A>G (p.Asn5165Ser)
c.15461A>G (p.Asn5154Ser)
c.15458A>G (p.Asn5153Ser)
c.15425A>G (p.Asn5142Ser)
c.15560A>G (p.Asn5187Ser)
c.15533A>G (p.Asn5178Ser)
c.15479A>G (p.Asn5160Ser)
c.15446A>G (p.Asn5149Ser)
c.15422A>G (p.Asn5141Ser)
c.15374A>G (p.Asn5125Ser)
c.15323A>G (p.Asn5108Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19077986T>GCA338748076UBR4c.15314A>C (p.Asn5105Thr)
c.2435A>C (p.Asn812Thr)
c.539A>C (p.Asn180Thr)
n.3321A>C
c.15467A>C (p.Asn5156Thr)
c.15464A>C (p.Asn5155Thr)
c.15452A>C (p.Asn5151Thr)
c.15449A>C (p.Asn5150Thr)
c.15443A>C (p.Asn5148Thr)
c.15434A>C (p.Asn5145Thr)
c.15383A>C (p.Asn5128Thr)
c.15380A>C (p.Asn5127Thr)
c.15347A>C (p.Asn5116Thr)
c.15344A>C (p.Asn5115Thr)
c.15311A>C (p.Asn5104Thr)
c.15581A>C (p.Asn5194Thr)
c.15578A>C (p.Asn5193Thr)
c.15566A>C (p.Asn5189Thr)
c.15563A>C (p.Asn5188Thr)
c.15557A>C (p.Asn5186Thr)
c.15548A>C (p.Asn5183Thr)
c.15497A>C (p.Asn5166Thr)
c.15494A>C (p.Asn5165Thr)
c.15461A>C (p.Asn5154Thr)
c.15458A>C (p.Asn5153Thr)
c.15425A>C (p.Asn5142Thr)
c.15560A>C (p.Asn5187Thr)
c.15533A>C (p.Asn5178Thr)
c.15479A>C (p.Asn5160Thr)
c.15446A>C (p.Asn5149Thr)
c.15422A>C (p.Asn5141Thr)
c.15374A>C (p.Asn5125Thr)
c.15323A>C (p.Asn5108Thr)
1g.19077986T=CA1141706695UBR4c.15314A= (p.Asn5105=)
c.2435A= (p.Asn812=)
c.539A= (p.Asn180=)
n.3321A=
c.15467A= (p.Asn5156=)
c.15464A= (p.Asn5155=)
c.15452A= (p.Asn5151=)
c.15449A= (p.Asn5150=)
c.15443A= (p.Asn5148=)
c.15434A= (p.Asn5145=)
c.15383A= (p.Asn5128=)
c.15380A= (p.Asn5127=)
c.15347A= (p.Asn5116=)
c.15344A= (p.Asn5115=)
c.15311A= (p.Asn5104=)
c.15581A= (p.Asn5194=)
c.15578A= (p.Asn5193=)
c.15566A= (p.Asn5189=)
c.15563A= (p.Asn5188=)
c.15557A= (p.Asn5186=)
c.15548A= (p.Asn5183=)
c.15497A= (p.Asn5166=)
c.15494A= (p.Asn5165=)
c.15461A= (p.Asn5154=)
c.15458A= (p.Asn5153=)
c.15425A= (p.Asn5142=)
c.15560A= (p.Asn5187=)
c.15533A= (p.Asn5178=)
c.15479A= (p.Asn5160=)
c.15446A= (p.Asn5149=)
c.15422A= (p.Asn5141=)
c.15374A= (p.Asn5125=)
c.15323A= (p.Asn5108=)
1g.19077987T>ACA338748080UBR4c.15313A>T (p.Asn5105Tyr)
c.2434A>T (p.Asn812Tyr)
c.538A>T (p.Asn180Tyr)
n.3320A>T
c.15466A>T (p.Asn5156Tyr)
c.15463A>T (p.Asn5155Tyr)
c.15451A>T (p.Asn5151Tyr)
c.15448A>T (p.Asn5150Tyr)
c.15442A>T (p.Asn5148Tyr)
c.15433A>T (p.Asn5145Tyr)
c.15382A>T (p.Asn5128Tyr)
c.15379A>T (p.Asn5127Tyr)
c.15346A>T (p.Asn5116Tyr)
c.15343A>T (p.Asn5115Tyr)
c.15310A>T (p.Asn5104Tyr)
c.15580A>T (p.Asn5194Tyr)
c.15577A>T (p.Asn5193Tyr)
c.15565A>T (p.Asn5189Tyr)
c.15562A>T (p.Asn5188Tyr)
c.15556A>T (p.Asn5186Tyr)
c.15547A>T (p.Asn5183Tyr)
c.15496A>T (p.Asn5166Tyr)
c.15493A>T (p.Asn5165Tyr)
c.15460A>T (p.Asn5154Tyr)
c.15457A>T (p.Asn5153Tyr)
c.15424A>T (p.Asn5142Tyr)
c.15559A>T (p.Asn5187Tyr)
c.15532A>T (p.Asn5178Tyr)
c.15478A>T (p.Asn5160Tyr)
c.15445A>T (p.Asn5149Tyr)
c.15421A>T (p.Asn5141Tyr)
c.15373A>T (p.Asn5125Tyr)
c.15322A>T (p.Asn5108Tyr)
1g.19077987T>CCA338748082UBR4c.15313A>G (p.Asn5105Asp)
c.2434A>G (p.Asn812Asp)
c.538A>G (p.Asn180Asp)
n.3320A>G
c.15466A>G (p.Asn5156Asp)
c.15463A>G (p.Asn5155Asp)
c.15451A>G (p.Asn5151Asp)
c.15448A>G (p.Asn5150Asp)
c.15442A>G (p.Asn5148Asp)
c.15433A>G (p.Asn5145Asp)
c.15382A>G (p.Asn5128Asp)
c.15379A>G (p.Asn5127Asp)
c.15346A>G (p.Asn5116Asp)
c.15343A>G (p.Asn5115Asp)
c.15310A>G (p.Asn5104Asp)
c.15580A>G (p.Asn5194Asp)
c.15577A>G (p.Asn5193Asp)
c.15565A>G (p.Asn5189Asp)
c.15562A>G (p.Asn5188Asp)
c.15556A>G (p.Asn5186Asp)
c.15547A>G (p.Asn5183Asp)
c.15496A>G (p.Asn5166Asp)
c.15493A>G (p.Asn5165Asp)
c.15460A>G (p.Asn5154Asp)
c.15457A>G (p.Asn5153Asp)
c.15424A>G (p.Asn5142Asp)
c.15559A>G (p.Asn5187Asp)
c.15532A>G (p.Asn5178Asp)
c.15478A>G (p.Asn5160Asp)
c.15445A>G (p.Asn5149Asp)
c.15421A>G (p.Asn5141Asp)
c.15373A>G (p.Asn5125Asp)
c.15322A>G (p.Asn5108Asp)
 dbSNP gnomAD v4
1g.19077987T>GCA338748084UBR4c.15313A>C (p.Asn5105His)
c.2434A>C (p.Asn812His)
c.538A>C (p.Asn180His)
n.3320A>C
c.15466A>C (p.Asn5156His)
c.15463A>C (p.Asn5155His)
c.15451A>C (p.Asn5151His)
c.15448A>C (p.Asn5150His)
c.15442A>C (p.Asn5148His)
c.15433A>C (p.Asn5145His)
c.15382A>C (p.Asn5128His)
c.15379A>C (p.Asn5127His)
c.15346A>C (p.Asn5116His)
c.15343A>C (p.Asn5115His)
c.15310A>C (p.Asn5104His)
c.15580A>C (p.Asn5194His)
c.15577A>C (p.Asn5193His)
c.15565A>C (p.Asn5189His)
c.15562A>C (p.Asn5188His)
c.15556A>C (p.Asn5186His)
c.15547A>C (p.Asn5183His)
c.15496A>C (p.Asn5166His)
c.15493A>C (p.Asn5165His)
c.15460A>C (p.Asn5154His)
c.15457A>C (p.Asn5153His)
c.15424A>C (p.Asn5142His)
c.15559A>C (p.Asn5187His)
c.15532A>C (p.Asn5178His)
c.15478A>C (p.Asn5160His)
c.15445A>C (p.Asn5149His)
c.15421A>C (p.Asn5141His)
c.15373A>C (p.Asn5125His)
c.15322A>C (p.Asn5108His)
1g.19077987T=CA1156956066UBR4c.15313A= (p.Asn5105=)
c.2434A= (p.Asn812=)
c.538A= (p.Asn180=)
n.3320A=
c.15466A= (p.Asn5156=)
c.15463A= (p.Asn5155=)
c.15451A= (p.Asn5151=)
c.15448A= (p.Asn5150=)
c.15442A= (p.Asn5148=)
c.15433A= (p.Asn5145=)
c.15382A= (p.Asn5128=)
c.15379A= (p.Asn5127=)
c.15346A= (p.Asn5116=)
c.15343A= (p.Asn5115=)
c.15310A= (p.Asn5104=)
c.15580A= (p.Asn5194=)
c.15577A= (p.Asn5193=)
c.15565A= (p.Asn5189=)
c.15562A= (p.Asn5188=)
c.15556A= (p.Asn5186=)
c.15547A= (p.Asn5183=)
c.15496A= (p.Asn5166=)
c.15493A= (p.Asn5165=)
c.15460A= (p.Asn5154=)
c.15457A= (p.Asn5153=)
c.15424A= (p.Asn5142=)
c.15559A= (p.Asn5187=)
c.15532A= (p.Asn5178=)
c.15478A= (p.Asn5160=)
c.15445A= (p.Asn5149=)
c.15421A= (p.Asn5141=)
c.15373A= (p.Asn5125=)
c.15322A= (p.Asn5108=)
1g.19077988G>ACA416453017UBR4c.15312C>T (p.Tyr5104=)
c.2433C>T (p.Tyr811=)
c.537C>T (p.Tyr179=)
n.3319C>T
c.15465C>T (p.Tyr5155=)
c.15462C>T (p.Tyr5154=)
c.15450C>T (p.Tyr5150=)
c.15447C>T (p.Tyr5149=)
c.15441C>T (p.Tyr5147=)
c.15432C>T (p.Tyr5144=)
c.15381C>T (p.Tyr5127=)
c.15378C>T (p.Tyr5126=)
c.15345C>T (p.Tyr5115=)
c.15342C>T (p.Tyr5114=)
c.15309C>T (p.Tyr5103=)
c.15579C>T (p.Tyr5193=)
c.15576C>T (p.Tyr5192=)
c.15564C>T (p.Tyr5188=)
c.15561C>T (p.Tyr5187=)
c.15555C>T (p.Tyr5185=)
c.15546C>T (p.Tyr5182=)
c.15495C>T (p.Tyr5165=)
c.15492C>T (p.Tyr5164=)
c.15459C>T (p.Tyr5153=)
c.15456C>T (p.Tyr5152=)
c.15423C>T (p.Tyr5141=)
c.15558C>T (p.Tyr5186=)
c.15531C>T (p.Tyr5177=)
c.15477C>T (p.Tyr5159=)
c.15444C>T (p.Tyr5148=)
c.15420C>T (p.Tyr5140=)
c.15372C>T (p.Tyr5124=)
c.15321C>T (p.Tyr5107=)
 COSMIC COSMIC COSMIC COSMIC
1g.19077988G>CCA338748086UBR4c.15312C>G (p.Tyr5104Ter)
c.2433C>G (p.Tyr811Ter)
c.537C>G (p.Tyr179Ter)
n.3319C>G
c.15465C>G (p.Tyr5155Ter)
c.15462C>G (p.Tyr5154Ter)
c.15450C>G (p.Tyr5150Ter)
c.15447C>G (p.Tyr5149Ter)
c.15441C>G (p.Tyr5147Ter)
c.15432C>G (p.Tyr5144Ter)
c.15381C>G (p.Tyr5127Ter)
c.15378C>G (p.Tyr5126Ter)
c.15345C>G (p.Tyr5115Ter)
c.15342C>G (p.Tyr5114Ter)
c.15309C>G (p.Tyr5103Ter)
c.15579C>G (p.Tyr5193Ter)
c.15576C>G (p.Tyr5192Ter)
c.15564C>G (p.Tyr5188Ter)
c.15561C>G (p.Tyr5187Ter)
c.15555C>G (p.Tyr5185Ter)
c.15546C>G (p.Tyr5182Ter)
c.15495C>G (p.Tyr5165Ter)
c.15492C>G (p.Tyr5164Ter)
c.15459C>G (p.Tyr5153Ter)
c.15456C>G (p.Tyr5152Ter)
c.15423C>G (p.Tyr5141Ter)
c.15558C>G (p.Tyr5186Ter)
c.15531C>G (p.Tyr5177Ter)
c.15477C>G (p.Tyr5159Ter)
c.15444C>G (p.Tyr5148Ter)
c.15420C>G (p.Tyr5140Ter)
c.15372C>G (p.Tyr5124Ter)
c.15321C>G (p.Tyr5107Ter)
1g.19077988G>TCA338748088UBR4c.15312C>A (p.Tyr5104Ter)
c.2433C>A (p.Tyr811Ter)
c.537C>A (p.Tyr179Ter)
n.3319C>A
c.15465C>A (p.Tyr5155Ter)
c.15462C>A (p.Tyr5154Ter)
c.15450C>A (p.Tyr5150Ter)
c.15447C>A (p.Tyr5149Ter)
c.15441C>A (p.Tyr5147Ter)
c.15432C>A (p.Tyr5144Ter)
c.15381C>A (p.Tyr5127Ter)
c.15378C>A (p.Tyr5126Ter)
c.15345C>A (p.Tyr5115Ter)
c.15342C>A (p.Tyr5114Ter)
c.15309C>A (p.Tyr5103Ter)
c.15579C>A (p.Tyr5193Ter)
c.15576C>A (p.Tyr5192Ter)
c.15564C>A (p.Tyr5188Ter)
c.15561C>A (p.Tyr5187Ter)
c.15555C>A (p.Tyr5185Ter)
c.15546C>A (p.Tyr5182Ter)
c.15495C>A (p.Tyr5165Ter)
c.15492C>A (p.Tyr5164Ter)
c.15459C>A (p.Tyr5153Ter)
c.15456C>A (p.Tyr5152Ter)
c.15423C>A (p.Tyr5141Ter)
c.15558C>A (p.Tyr5186Ter)
c.15531C>A (p.Tyr5177Ter)
c.15477C>A (p.Tyr5159Ter)
c.15444C>A (p.Tyr5148Ter)
c.15420C>A (p.Tyr5140Ter)
c.15372C>A (p.Tyr5124Ter)
c.15321C>A (p.Tyr5107Ter)
1g.19077989T>ACA338748090UBR4c.15311A>T (p.Tyr5104Phe)
c.2432A>T (p.Tyr811Phe)
c.536A>T (p.Tyr179Phe)
n.3318A>T
c.15464A>T (p.Tyr5155Phe)
c.15461A>T (p.Tyr5154Phe)
c.15449A>T (p.Tyr5150Phe)
c.15446A>T (p.Tyr5149Phe)
c.15440A>T (p.Tyr5147Phe)
c.15431A>T (p.Tyr5144Phe)
c.15380A>T (p.Tyr5127Phe)
c.15377A>T (p.Tyr5126Phe)
c.15344A>T (p.Tyr5115Phe)
c.15341A>T (p.Tyr5114Phe)
c.15308A>T (p.Tyr5103Phe)
c.15578A>T (p.Tyr5193Phe)
c.15575A>T (p.Tyr5192Phe)
c.15563A>T (p.Tyr5188Phe)
c.15560A>T (p.Tyr5187Phe)
c.15554A>T (p.Tyr5185Phe)
c.15545A>T (p.Tyr5182Phe)
c.15494A>T (p.Tyr5165Phe)
c.15491A>T (p.Tyr5164Phe)
c.15458A>T (p.Tyr5153Phe)
c.15455A>T (p.Tyr5152Phe)
c.15422A>T (p.Tyr5141Phe)
c.15557A>T (p.Tyr5186Phe)
c.15530A>T (p.Tyr5177Phe)
c.15476A>T (p.Tyr5159Phe)
c.15443A>T (p.Tyr5148Phe)
c.15419A>T (p.Tyr5140Phe)
c.15371A>T (p.Tyr5124Phe)
c.15320A>T (p.Tyr5107Phe)
1g.19077989T>CCA18791035UBR4c.15311A>G (p.Tyr5104Cys)
c.2432A>G (p.Tyr811Cys)
c.536A>G (p.Tyr179Cys)
n.3318A>G
c.15464A>G (p.Tyr5155Cys)
c.15461A>G (p.Tyr5154Cys)
c.15449A>G (p.Tyr5150Cys)
c.15446A>G (p.Tyr5149Cys)
c.15440A>G (p.Tyr5147Cys)
c.15431A>G (p.Tyr5144Cys)
c.15380A>G (p.Tyr5127Cys)
c.15377A>G (p.Tyr5126Cys)
c.15344A>G (p.Tyr5115Cys)
c.15341A>G (p.Tyr5114Cys)
c.15308A>G (p.Tyr5103Cys)
c.15578A>G (p.Tyr5193Cys)
c.15575A>G (p.Tyr5192Cys)
c.15563A>G (p.Tyr5188Cys)
c.15560A>G (p.Tyr5187Cys)
c.15554A>G (p.Tyr5185Cys)
c.15545A>G (p.Tyr5182Cys)
c.15494A>G (p.Tyr5165Cys)
c.15491A>G (p.Tyr5164Cys)
c.15458A>G (p.Tyr5153Cys)
c.15455A>G (p.Tyr5152Cys)
c.15422A>G (p.Tyr5141Cys)
c.15557A>G (p.Tyr5186Cys)
c.15530A>G (p.Tyr5177Cys)
c.15476A>G (p.Tyr5159Cys)
c.15443A>G (p.Tyr5148Cys)
c.15419A>G (p.Tyr5140Cys)
c.15371A>G (p.Tyr5124Cys)
c.15320A>G (p.Tyr5107Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.19077989T>GCA338748093UBR4c.15311A>C (p.Tyr5104Ser)
c.2432A>C (p.Tyr811Ser)
c.536A>C (p.Tyr179Ser)
n.3318A>C
c.15464A>C (p.Tyr5155Ser)
c.15461A>C (p.Tyr5154Ser)
c.15449A>C (p.Tyr5150Ser)
c.15446A>C (p.Tyr5149Ser)
c.15440A>C (p.Tyr5147Ser)
c.15431A>C (p.Tyr5144Ser)
c.15380A>C (p.Tyr5127Ser)
c.15377A>C (p.Tyr5126Ser)
c.15344A>C (p.Tyr5115Ser)
c.15341A>C (p.Tyr5114Ser)
c.15308A>C (p.Tyr5103Ser)
c.15578A>C (p.Tyr5193Ser)
c.15575A>C (p.Tyr5192Ser)
c.15563A>C (p.Tyr5188Ser)
c.15560A>C (p.Tyr5187Ser)
c.15554A>C (p.Tyr5185Ser)
c.15545A>C (p.Tyr5182Ser)
c.15494A>C (p.Tyr5165Ser)
c.15491A>C (p.Tyr5164Ser)
c.15458A>C (p.Tyr5153Ser)
c.15455A>C (p.Tyr5152Ser)
c.15422A>C (p.Tyr5141Ser)
c.15557A>C (p.Tyr5186Ser)
c.15530A>C (p.Tyr5177Ser)
c.15476A>C (p.Tyr5159Ser)
c.15443A>C (p.Tyr5148Ser)
c.15419A>C (p.Tyr5140Ser)
c.15371A>C (p.Tyr5124Ser)
c.15320A>C (p.Tyr5107Ser)
1g.19077989T=CA1156956067UBR4c.15311A= (p.Tyr5104=)
c.2432A= (p.Tyr811=)
c.536A= (p.Tyr179=)
n.3318A=
c.15464A= (p.Tyr5155=)
c.15461A= (p.Tyr5154=)
c.15449A= (p.Tyr5150=)
c.15446A= (p.Tyr5149=)
c.15440A= (p.Tyr5147=)
c.15431A= (p.Tyr5144=)
c.15380A= (p.Tyr5127=)
c.15377A= (p.Tyr5126=)
c.15344A= (p.Tyr5115=)
c.15341A= (p.Tyr5114=)
c.15308A= (p.Tyr5103=)
c.15578A= (p.Tyr5193=)
c.15575A= (p.Tyr5192=)
c.15563A= (p.Tyr5188=)
c.15560A= (p.Tyr5187=)
c.15554A= (p.Tyr5185=)
c.15545A= (p.Tyr5182=)
c.15494A= (p.Tyr5165=)
c.15491A= (p.Tyr5164=)
c.15458A= (p.Tyr5153=)
c.15455A= (p.Tyr5152=)
c.15422A= (p.Tyr5141=)
c.15557A= (p.Tyr5186=)
c.15530A= (p.Tyr5177=)
c.15476A= (p.Tyr5159=)
c.15443A= (p.Tyr5148=)
c.15419A= (p.Tyr5140=)
c.15371A= (p.Tyr5124=)
c.15320A= (p.Tyr5107=)
1g.19077990A=CA1156956068UBR4c.15310T= (p.Tyr5104=)
c.2431T= (p.Tyr811=)
c.535T= (p.Tyr179=)
n.3317T=
c.15463T= (p.Tyr5155=)
c.15460T= (p.Tyr5154=)
c.15448T= (p.Tyr5150=)
c.15445T= (p.Tyr5149=)
c.15439T= (p.Tyr5147=)
c.15430T= (p.Tyr5144=)
c.15379T= (p.Tyr5127=)
c.15376T= (p.Tyr5126=)
c.15343T= (p.Tyr5115=)
c.15340T= (p.Tyr5114=)
c.15307T= (p.Tyr5103=)
c.15577T= (p.Tyr5193=)
c.15574T= (p.Tyr5192=)
c.15562T= (p.Tyr5188=)
c.15559T= (p.Tyr5187=)
c.15553T= (p.Tyr5185=)
c.15544T= (p.Tyr5182=)
c.15493T= (p.Tyr5165=)
c.15490T= (p.Tyr5164=)
c.15457T= (p.Tyr5153=)
c.15454T= (p.Tyr5152=)
c.15421T= (p.Tyr5141=)
c.15556T= (p.Tyr5186=)
c.15529T= (p.Tyr5177=)
c.15475T= (p.Tyr5159=)
c.15442T= (p.Tyr5148=)
c.15418T= (p.Tyr5140=)
c.15370T= (p.Tyr5124=)
c.15319T= (p.Tyr5107=)
1g.19077990A>CCA338748095UBR4c.15310T>G (p.Tyr5104Asp)
c.2431T>G (p.Tyr811Asp)
c.535T>G (p.Tyr179Asp)
n.3317T>G
c.15463T>G (p.Tyr5155Asp)
c.15460T>G (p.Tyr5154Asp)
c.15448T>G (p.Tyr5150Asp)
c.15445T>G (p.Tyr5149Asp)
c.15439T>G (p.Tyr5147Asp)
c.15430T>G (p.Tyr5144Asp)
c.15379T>G (p.Tyr5127Asp)
c.15376T>G (p.Tyr5126Asp)
c.15343T>G (p.Tyr5115Asp)
c.15340T>G (p.Tyr5114Asp)
c.15307T>G (p.Tyr5103Asp)
c.15577T>G (p.Tyr5193Asp)
c.15574T>G (p.Tyr5192Asp)
c.15562T>G (p.Tyr5188Asp)
c.15559T>G (p.Tyr5187Asp)
c.15553T>G (p.Tyr5185Asp)
c.15544T>G (p.Tyr5182Asp)
c.15493T>G (p.Tyr5165Asp)
c.15490T>G (p.Tyr5164Asp)
c.15457T>G (p.Tyr5153Asp)
c.15454T>G (p.Tyr5152Asp)
c.15421T>G (p.Tyr5141Asp)
c.15556T>G (p.Tyr5186Asp)
c.15529T>G (p.Tyr5177Asp)
c.15475T>G (p.Tyr5159Asp)
c.15442T>G (p.Tyr5148Asp)
c.15418T>G (p.Tyr5140Asp)
c.15370T>G (p.Tyr5124Asp)
c.15319T>G (p.Tyr5107Asp)
1g.19077990A>GCA338748097UBR4c.15310T>C (p.Tyr5104His)
c.2431T>C (p.Tyr811His)
c.535T>C (p.Tyr179His)
n.3317T>C
c.15463T>C (p.Tyr5155His)
c.15460T>C (p.Tyr5154His)
c.15448T>C (p.Tyr5150His)
c.15445T>C (p.Tyr5149His)
c.15439T>C (p.Tyr5147His)
c.15430T>C (p.Tyr5144His)
c.15379T>C (p.Tyr5127His)
c.15376T>C (p.Tyr5126His)
c.15343T>C (p.Tyr5115His)
c.15340T>C (p.Tyr5114His)
c.15307T>C (p.Tyr5103His)
c.15577T>C (p.Tyr5193His)
c.15574T>C (p.Tyr5192His)
c.15562T>C (p.Tyr5188His)
c.15559T>C (p.Tyr5187His)
c.15553T>C (p.Tyr5185His)
c.15544T>C (p.Tyr5182His)
c.15493T>C (p.Tyr5165His)
c.15490T>C (p.Tyr5164His)
c.15457T>C (p.Tyr5153His)
c.15454T>C (p.Tyr5152His)
c.15421T>C (p.Tyr5141His)
c.15556T>C (p.Tyr5186His)
c.15529T>C (p.Tyr5177His)
c.15475T>C (p.Tyr5159His)
c.15442T>C (p.Tyr5148His)
c.15418T>C (p.Tyr5140His)
c.15370T>C (p.Tyr5124His)
c.15319T>C (p.Tyr5107His)
 dbSNP gnomAD v2 gnomAD v4
1g.19077990A>TCA338748096UBR4c.15310T>A (p.Tyr5104Asn)
c.2431T>A (p.Tyr811Asn)
c.535T>A (p.Tyr179Asn)
n.3317T>A
c.15463T>A (p.Tyr5155Asn)
c.15460T>A (p.Tyr5154Asn)
c.15448T>A (p.Tyr5150Asn)
c.15445T>A (p.Tyr5149Asn)
c.15439T>A (p.Tyr5147Asn)
c.15430T>A (p.Tyr5144Asn)
c.15379T>A (p.Tyr5127Asn)
c.15376T>A (p.Tyr5126Asn)
c.15343T>A (p.Tyr5115Asn)
c.15340T>A (p.Tyr5114Asn)
c.15307T>A (p.Tyr5103Asn)
c.15577T>A (p.Tyr5193Asn)
c.15574T>A (p.Tyr5192Asn)
c.15562T>A (p.Tyr5188Asn)
c.15559T>A (p.Tyr5187Asn)
c.15553T>A (p.Tyr5185Asn)
c.15544T>A (p.Tyr5182Asn)
c.15493T>A (p.Tyr5165Asn)
c.15490T>A (p.Tyr5164Asn)
c.15457T>A (p.Tyr5153Asn)
c.15454T>A (p.Tyr5152Asn)
c.15421T>A (p.Tyr5141Asn)
c.15556T>A (p.Tyr5186Asn)
c.15529T>A (p.Tyr5177Asn)
c.15475T>A (p.Tyr5159Asn)
c.15442T>A (p.Tyr5148Asn)
c.15418T>A (p.Tyr5140Asn)
c.15370T>A (p.Tyr5124Asn)
c.15319T>A (p.Tyr5107Asn)
1g.19077991A>CCA338748100UBR4c.15309T>G (p.Ile5103Met)
c.2430T>G (p.Ile810Met)
c.534T>G (p.Ile178Met)
n.3316T>G
c.15462T>G (p.Ile5154Met)
c.15459T>G (p.Ile5153Met)
c.15447T>G (p.Ile5149Met)
c.15444T>G (p.Ile5148Met)
c.15438T>G (p.Ile5146Met)
c.15429T>G (p.Ile5143Met)
c.15378T>G (p.Ile5126Met)
c.15375T>G (p.Ile5125Met)
c.15342T>G (p.Ile5114Met)
c.15339T>G (p.Ile5113Met)
c.15306T>G (p.Ile5102Met)
c.15576T>G (p.Ile5192Met)
c.15573T>G (p.Ile5191Met)
c.15561T>G (p.Ile5187Met)
c.15558T>G (p.Ile5186Met)
c.15552T>G (p.Ile5184Met)
c.15543T>G (p.Ile5181Met)
c.15492T>G (p.Ile5164Met)
c.15489T>G (p.Ile5163Met)
c.15456T>G (p.Ile5152Met)
c.15453T>G (p.Ile5151Met)
c.15420T>G (p.Ile5140Met)
c.15555T>G (p.Ile5185Met)
c.15528T>G (p.Ile5176Met)
c.15474T>G (p.Ile5158Met)
c.15441T>G (p.Ile5147Met)
c.15417T>G (p.Ile5139Met)
c.15369T>G (p.Ile5123Met)
c.15318T>G (p.Ile5106Met)
1g.19077991A>GCA416453028UBR4c.15309T>C (p.Ile5103=)
c.2430T>C (p.Ile810=)
c.534T>C (p.Ile178=)
n.3316T>C
c.15462T>C (p.Ile5154=)
c.15459T>C (p.Ile5153=)
c.15447T>C (p.Ile5149=)
c.15444T>C (p.Ile5148=)
c.15438T>C (p.Ile5146=)
c.15429T>C (p.Ile5143=)
c.15378T>C (p.Ile5126=)
c.15375T>C (p.Ile5125=)
c.15342T>C (p.Ile5114=)
c.15339T>C (p.Ile5113=)
c.15306T>C (p.Ile5102=)
c.15576T>C (p.Ile5192=)
c.15573T>C (p.Ile5191=)
c.15561T>C (p.Ile5187=)
c.15558T>C (p.Ile5186=)
c.15552T>C (p.Ile5184=)
c.15543T>C (p.Ile5181=)
c.15492T>C (p.Ile5164=)
c.15489T>C (p.Ile5163=)
c.15456T>C (p.Ile5152=)
c.15453T>C (p.Ile5151=)
c.15420T>C (p.Ile5140=)
c.15555T>C (p.Ile5185=)
c.15528T>C (p.Ile5176=)
c.15474T>C (p.Ile5158=)
c.15441T>C (p.Ile5147=)
c.15417T>C (p.Ile5139=)
c.15369T>C (p.Ile5123=)
c.15318T>C (p.Ile5106=)
1g.19077991A>TCA416453030UBR4c.15309T>A (p.Ile5103=)
c.2430T>A (p.Ile810=)
c.534T>A (p.Ile178=)
n.3316T>A
c.15462T>A (p.Ile5154=)
c.15459T>A (p.Ile5153=)
c.15447T>A (p.Ile5149=)
c.15444T>A (p.Ile5148=)
c.15438T>A (p.Ile5146=)
c.15429T>A (p.Ile5143=)
c.15378T>A (p.Ile5126=)
c.15375T>A (p.Ile5125=)
c.15342T>A (p.Ile5114=)
c.15339T>A (p.Ile5113=)
c.15306T>A (p.Ile5102=)
c.15576T>A (p.Ile5192=)
c.15573T>A (p.Ile5191=)
c.15561T>A (p.Ile5187=)
c.15558T>A (p.Ile5186=)
c.15552T>A (p.Ile5184=)
c.15543T>A (p.Ile5181=)
c.15492T>A (p.Ile5164=)
c.15489T>A (p.Ile5163=)
c.15456T>A (p.Ile5152=)
c.15453T>A (p.Ile5151=)
c.15420T>A (p.Ile5140=)
c.15555T>A (p.Ile5185=)
c.15528T>A (p.Ile5176=)
c.15474T>A (p.Ile5158=)
c.15441T>A (p.Ile5147=)
c.15417T>A (p.Ile5139=)
c.15369T>A (p.Ile5123=)
c.15318T>A (p.Ile5106=)
1g.19077992A>CCA338748102UBR4c.15308T>G (p.Ile5103Ser)
c.2429T>G (p.Ile810Ser)
c.533T>G (p.Ile178Ser)
n.3315T>G
c.15461T>G (p.Ile5154Ser)
c.15458T>G (p.Ile5153Ser)
c.15446T>G (p.Ile5149Ser)
c.15443T>G (p.Ile5148Ser)
c.15437T>G (p.Ile5146Ser)
c.15428T>G (p.Ile5143Ser)
c.15377T>G (p.Ile5126Ser)
c.15374T>G (p.Ile5125Ser)
c.15341T>G (p.Ile5114Ser)
c.15338T>G (p.Ile5113Ser)
c.15305T>G (p.Ile5102Ser)
c.15575T>G (p.Ile5192Ser)
c.15572T>G (p.Ile5191Ser)
c.15560T>G (p.Ile5187Ser)
c.15557T>G (p.Ile5186Ser)
c.15551T>G (p.Ile5184Ser)
c.15542T>G (p.Ile5181Ser)
c.15491T>G (p.Ile5164Ser)
c.15488T>G (p.Ile5163Ser)
c.15455T>G (p.Ile5152Ser)
c.15452T>G (p.Ile5151Ser)
c.15419T>G (p.Ile5140Ser)
c.15554T>G (p.Ile5185Ser)
c.15527T>G (p.Ile5176Ser)
c.15473T>G (p.Ile5158Ser)
c.15440T>G (p.Ile5147Ser)
c.15416T>G (p.Ile5139Ser)
c.15368T>G (p.Ile5123Ser)
c.15317T>G (p.Ile5106Ser)
1g.19077992A>GCA338748104UBR4c.15308T>C (p.Ile5103Thr)
c.2429T>C (p.Ile810Thr)
c.533T>C (p.Ile178Thr)
n.3315T>C
c.15461T>C (p.Ile5154Thr)
c.15458T>C (p.Ile5153Thr)
c.15446T>C (p.Ile5149Thr)
c.15443T>C (p.Ile5148Thr)
c.15437T>C (p.Ile5146Thr)
c.15428T>C (p.Ile5143Thr)
c.15377T>C (p.Ile5126Thr)
c.15374T>C (p.Ile5125Thr)
c.15341T>C (p.Ile5114Thr)
c.15338T>C (p.Ile5113Thr)
c.15305T>C (p.Ile5102Thr)
c.15575T>C (p.Ile5192Thr)
c.15572T>C (p.Ile5191Thr)
c.15560T>C (p.Ile5187Thr)
c.15557T>C (p.Ile5186Thr)
c.15551T>C (p.Ile5184Thr)
c.15542T>C (p.Ile5181Thr)
c.15491T>C (p.Ile5164Thr)
c.15488T>C (p.Ile5163Thr)
c.15455T>C (p.Ile5152Thr)
c.15452T>C (p.Ile5151Thr)
c.15419T>C (p.Ile5140Thr)
c.15554T>C (p.Ile5185Thr)
c.15527T>C (p.Ile5176Thr)
c.15473T>C (p.Ile5158Thr)
c.15440T>C (p.Ile5147Thr)
c.15416T>C (p.Ile5139Thr)
c.15368T>C (p.Ile5123Thr)
c.15317T>C (p.Ile5106Thr)
1g.19077992A>TCA338748106UBR4c.15308T>A (p.Ile5103Asn)
c.2429T>A (p.Ile810Asn)
c.533T>A (p.Ile178Asn)
n.3315T>A
c.15461T>A (p.Ile5154Asn)
c.15458T>A (p.Ile5153Asn)
c.15446T>A (p.Ile5149Asn)
c.15443T>A (p.Ile5148Asn)
c.15437T>A (p.Ile5146Asn)
c.15428T>A (p.Ile5143Asn)
c.15377T>A (p.Ile5126Asn)
c.15374T>A (p.Ile5125Asn)
c.15341T>A (p.Ile5114Asn)
c.15338T>A (p.Ile5113Asn)
c.15305T>A (p.Ile5102Asn)
c.15575T>A (p.Ile5192Asn)
c.15572T>A (p.Ile5191Asn)
c.15560T>A (p.Ile5187Asn)
c.15557T>A (p.Ile5186Asn)
c.15551T>A (p.Ile5184Asn)
c.15542T>A (p.Ile5181Asn)
c.15491T>A (p.Ile5164Asn)
c.15488T>A (p.Ile5163Asn)
c.15455T>A (p.Ile5152Asn)
c.15452T>A (p.Ile5151Asn)
c.15419T>A (p.Ile5140Asn)
c.15554T>A (p.Ile5185Asn)
c.15527T>A (p.Ile5176Asn)
c.15473T>A (p.Ile5158Asn)
c.15440T>A (p.Ile5147Asn)
c.15416T>A (p.Ile5139Asn)
c.15368T>A (p.Ile5123Asn)
c.15317T>A (p.Ile5106Asn)
1g.19077993T>ACA338748107UBR4c.15307A>T (p.Ile5103Phe)
c.2428A>T (p.Ile810Phe)
c.532A>T (p.Ile178Phe)
n.3314A>T
c.15460A>T (p.Ile5154Phe)
c.15457A>T (p.Ile5153Phe)
c.15445A>T (p.Ile5149Phe)
c.15442A>T (p.Ile5148Phe)
c.15436A>T (p.Ile5146Phe)
c.15427A>T (p.Ile5143Phe)
c.15376A>T (p.Ile5126Phe)
c.15373A>T (p.Ile5125Phe)
c.15340A>T (p.Ile5114Phe)
c.15337A>T (p.Ile5113Phe)
c.15304A>T (p.Ile5102Phe)
c.15574A>T (p.Ile5192Phe)
c.15571A>T (p.Ile5191Phe)
c.15559A>T (p.Ile5187Phe)
c.15556A>T (p.Ile5186Phe)
c.15550A>T (p.Ile5184Phe)
c.15541A>T (p.Ile5181Phe)
c.15490A>T (p.Ile5164Phe)
c.15487A>T (p.Ile5163Phe)
c.15454A>T (p.Ile5152Phe)
c.15451A>T (p.Ile5151Phe)
c.15418A>T (p.Ile5140Phe)
c.15553A>T (p.Ile5185Phe)
c.15526A>T (p.Ile5176Phe)
c.15472A>T (p.Ile5158Phe)
c.15439A>T (p.Ile5147Phe)
c.15415A>T (p.Ile5139Phe)
c.15367A>T (p.Ile5123Phe)
c.15316A>T (p.Ile5106Phe)
1g.19077993T>CCA647911UBR4c.15307A>G (p.Ile5103Val)
c.2428A>G (p.Ile810Val)
c.532A>G (p.Ile178Val)
n.3314A>G
c.15460A>G (p.Ile5154Val)
c.15457A>G (p.Ile5153Val)
c.15445A>G (p.Ile5149Val)
c.15442A>G (p.Ile5148Val)
c.15436A>G (p.Ile5146Val)
c.15427A>G (p.Ile5143Val)
c.15376A>G (p.Ile5126Val)
c.15373A>G (p.Ile5125Val)
c.15340A>G (p.Ile5114Val)
c.15337A>G (p.Ile5113Val)
c.15304A>G (p.Ile5102Val)
c.15574A>G (p.Ile5192Val)
c.15571A>G (p.Ile5191Val)
c.15559A>G (p.Ile5187Val)
c.15556A>G (p.Ile5186Val)
c.15550A>G (p.Ile5184Val)
c.15541A>G (p.Ile5181Val)
c.15490A>G (p.Ile5164Val)
c.15487A>G (p.Ile5163Val)
c.15454A>G (p.Ile5152Val)
c.15451A>G (p.Ile5151Val)
c.15418A>G (p.Ile5140Val)
c.15553A>G (p.Ile5185Val)
c.15526A>G (p.Ile5176Val)
c.15472A>G (p.Ile5158Val)
c.15439A>G (p.Ile5147Val)
c.15415A>G (p.Ile5139Val)
c.15367A>G (p.Ile5123Val)
c.15316A>G (p.Ile5106Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19077993T>GCA338748109UBR4c.15307A>C (p.Ile5103Leu)
c.2428A>C (p.Ile810Leu)
c.532A>C (p.Ile178Leu)
n.3314A>C
c.15460A>C (p.Ile5154Leu)
c.15457A>C (p.Ile5153Leu)
c.15445A>C (p.Ile5149Leu)
c.15442A>C (p.Ile5148Leu)
c.15436A>C (p.Ile5146Leu)
c.15427A>C (p.Ile5143Leu)
c.15376A>C (p.Ile5126Leu)
c.15373A>C (p.Ile5125Leu)
c.15340A>C (p.Ile5114Leu)
c.15337A>C (p.Ile5113Leu)
c.15304A>C (p.Ile5102Leu)
c.15574A>C (p.Ile5192Leu)
c.15571A>C (p.Ile5191Leu)
c.15559A>C (p.Ile5187Leu)
c.15556A>C (p.Ile5186Leu)
c.15550A>C (p.Ile5184Leu)
c.15541A>C (p.Ile5181Leu)
c.15490A>C (p.Ile5164Leu)
c.15487A>C (p.Ile5163Leu)
c.15454A>C (p.Ile5152Leu)
c.15451A>C (p.Ile5151Leu)
c.15418A>C (p.Ile5140Leu)
c.15553A>C (p.Ile5185Leu)
c.15526A>C (p.Ile5176Leu)
c.15472A>C (p.Ile5158Leu)
c.15439A>C (p.Ile5147Leu)
c.15415A>C (p.Ile5139Leu)
c.15367A>C (p.Ile5123Leu)
c.15316A>C (p.Ile5106Leu)
1g.19077993T=CA1156956069UBR4c.15307A= (p.Ile5103=)
c.2428A= (p.Ile810=)
c.532A= (p.Ile178=)
n.3314A=
c.15460A= (p.Ile5154=)
c.15457A= (p.Ile5153=)
c.15445A= (p.Ile5149=)
c.15442A= (p.Ile5148=)
c.15436A= (p.Ile5146=)
c.15427A= (p.Ile5143=)
c.15376A= (p.Ile5126=)
c.15373A= (p.Ile5125=)
c.15340A= (p.Ile5114=)
c.15337A= (p.Ile5113=)
c.15304A= (p.Ile5102=)
c.15574A= (p.Ile5192=)
c.15571A= (p.Ile5191=)
c.15559A= (p.Ile5187=)
c.15556A= (p.Ile5186=)
c.15550A= (p.Ile5184=)
c.15541A= (p.Ile5181=)
c.15490A= (p.Ile5164=)
c.15487A= (p.Ile5163=)
c.15454A= (p.Ile5152=)
c.15451A= (p.Ile5151=)
c.15418A= (p.Ile5140=)
c.15553A= (p.Ile5185=)
c.15526A= (p.Ile5176=)
c.15472A= (p.Ile5158=)
c.15439A= (p.Ile5147=)
c.15415A= (p.Ile5139=)
c.15367A= (p.Ile5123=)
c.15316A= (p.Ile5106=)
1g.19077994G>ACA416453041UBR4c.15306C>T (p.Leu5102=)
c.2427C>T (p.Leu809=)
c.531C>T (p.Leu177=)
n.3313C>T
c.15459C>T (p.Leu5153=)
c.15456C>T (p.Leu5152=)
c.15444C>T (p.Leu5148=)
c.15441C>T (p.Leu5147=)
c.15435C>T (p.Leu5145=)
c.15426C>T (p.Leu5142=)
c.15375C>T (p.Leu5125=)
c.15372C>T (p.Leu5124=)
c.15339C>T (p.Leu5113=)
c.15336C>T (p.Leu5112=)
c.15303C>T (p.Leu5101=)
c.15573C>T (p.Leu5191=)
c.15570C>T (p.Leu5190=)
c.15558C>T (p.Leu5186=)
c.15555C>T (p.Leu5185=)
c.15549C>T (p.Leu5183=)
c.15540C>T (p.Leu5180=)
c.15489C>T (p.Leu5163=)
c.15486C>T (p.Leu5162=)
c.15453C>T (p.Leu5151=)
c.15450C>T (p.Leu5150=)
c.15417C>T (p.Leu5139=)
c.15552C>T (p.Leu5184=)
c.15525C>T (p.Leu5175=)
c.15471C>T (p.Leu5157=)
c.15438C>T (p.Leu5146=)
c.15414C>T (p.Leu5138=)
c.15366C>T (p.Leu5122=)
c.15315C>T (p.Leu5105=)
1g.19077994G>CCA416453043UBR4c.15306C>G (p.Leu5102=)
c.2427C>G (p.Leu809=)
c.531C>G (p.Leu177=)
n.3313C>G
c.15459C>G (p.Leu5153=)
c.15456C>G (p.Leu5152=)
c.15444C>G (p.Leu5148=)
c.15441C>G (p.Leu5147=)
c.15435C>G (p.Leu5145=)
c.15426C>G (p.Leu5142=)
c.15375C>G (p.Leu5125=)
c.15372C>G (p.Leu5124=)
c.15339C>G (p.Leu5113=)
c.15336C>G (p.Leu5112=)
c.15303C>G (p.Leu5101=)
c.15573C>G (p.Leu5191=)
c.15570C>G (p.Leu5190=)
c.15558C>G (p.Leu5186=)
c.15555C>G (p.Leu5185=)
c.15549C>G (p.Leu5183=)
c.15540C>G (p.Leu5180=)
c.15489C>G (p.Leu5163=)
c.15486C>G (p.Leu5162=)
c.15453C>G (p.Leu5151=)
c.15450C>G (p.Leu5150=)
c.15417C>G (p.Leu5139=)
c.15552C>G (p.Leu5184=)
c.15525C>G (p.Leu5175=)
c.15471C>G (p.Leu5157=)
c.15438C>G (p.Leu5146=)
c.15414C>G (p.Leu5138=)
c.15366C>G (p.Leu5122=)
c.15315C>G (p.Leu5105=)
1g.19077994G>TCA416453044UBR4c.15306C>A (p.Leu5102=)
c.2427C>A (p.Leu809=)
c.531C>A (p.Leu177=)
n.3313C>A
c.15459C>A (p.Leu5153=)
c.15456C>A (p.Leu5152=)
c.15444C>A (p.Leu5148=)
c.15441C>A (p.Leu5147=)
c.15435C>A (p.Leu5145=)
c.15426C>A (p.Leu5142=)
c.15375C>A (p.Leu5125=)
c.15372C>A (p.Leu5124=)
c.15339C>A (p.Leu5113=)
c.15336C>A (p.Leu5112=)
c.15303C>A (p.Leu5101=)
c.15573C>A (p.Leu5191=)
c.15570C>A (p.Leu5190=)
c.15558C>A (p.Leu5186=)
c.15555C>A (p.Leu5185=)
c.15549C>A (p.Leu5183=)
c.15540C>A (p.Leu5180=)
c.15489C>A (p.Leu5163=)
c.15486C>A (p.Leu5162=)
c.15453C>A (p.Leu5151=)
c.15450C>A (p.Leu5150=)
c.15417C>A (p.Leu5139=)
c.15552C>A (p.Leu5184=)
c.15525C>A (p.Leu5175=)
c.15471C>A (p.Leu5157=)
c.15438C>A (p.Leu5146=)
c.15414C>A (p.Leu5138=)
c.15366C>A (p.Leu5122=)
c.15315C>A (p.Leu5105=)
1g.19077995A>CCA338748113UBR4c.15305T>G (p.Leu5102Arg)
c.2426T>G (p.Leu809Arg)
c.530T>G (p.Leu177Arg)
n.3312T>G
c.15458T>G (p.Leu5153Arg)
c.15455T>G (p.Leu5152Arg)
c.15443T>G (p.Leu5148Arg)
c.15440T>G (p.Leu5147Arg)
c.15434T>G (p.Leu5145Arg)
c.15425T>G (p.Leu5142Arg)
c.15374T>G (p.Leu5125Arg)
c.15371T>G (p.Leu5124Arg)
c.15338T>G (p.Leu5113Arg)
c.15335T>G (p.Leu5112Arg)
c.15302T>G (p.Leu5101Arg)
c.15572T>G (p.Leu5191Arg)
c.15569T>G (p.Leu5190Arg)
c.15557T>G (p.Leu5186Arg)
c.15554T>G (p.Leu5185Arg)
c.15548T>G (p.Leu5183Arg)
c.15539T>G (p.Leu5180Arg)
c.15488T>G (p.Leu5163Arg)
c.15485T>G (p.Leu5162Arg)
c.15452T>G (p.Leu5151Arg)
c.15449T>G (p.Leu5150Arg)
c.15416T>G (p.Leu5139Arg)
c.15551T>G (p.Leu5184Arg)
c.15524T>G (p.Leu5175Arg)
c.15470T>G (p.Leu5157Arg)
c.15437T>G (p.Leu5146Arg)
c.15413T>G (p.Leu5138Arg)
c.15365T>G (p.Leu5122Arg)
c.15314T>G (p.Leu5105Arg)
1g.19077995A>GCA338748115UBR4c.15305T>C (p.Leu5102Pro)
c.2426T>C (p.Leu809Pro)
c.530T>C (p.Leu177Pro)
n.3312T>C
c.15458T>C (p.Leu5153Pro)
c.15455T>C (p.Leu5152Pro)
c.15443T>C (p.Leu5148Pro)
c.15440T>C (p.Leu5147Pro)
c.15434T>C (p.Leu5145Pro)
c.15425T>C (p.Leu5142Pro)
c.15374T>C (p.Leu5125Pro)
c.15371T>C (p.Leu5124Pro)
c.15338T>C (p.Leu5113Pro)
c.15335T>C (p.Leu5112Pro)
c.15302T>C (p.Leu5101Pro)
c.15572T>C (p.Leu5191Pro)
c.15569T>C (p.Leu5190Pro)
c.15557T>C (p.Leu5186Pro)
c.15554T>C (p.Leu5185Pro)
c.15548T>C (p.Leu5183Pro)
c.15539T>C (p.Leu5180Pro)
c.15488T>C (p.Leu5163Pro)
c.15485T>C (p.Leu5162Pro)
c.15452T>C (p.Leu5151Pro)
c.15449T>C (p.Leu5150Pro)
c.15416T>C (p.Leu5139Pro)
c.15551T>C (p.Leu5184Pro)
c.15524T>C (p.Leu5175Pro)
c.15470T>C (p.Leu5157Pro)
c.15437T>C (p.Leu5146Pro)
c.15413T>C (p.Leu5138Pro)
c.15365T>C (p.Leu5122Pro)
c.15314T>C (p.Leu5105Pro)
1g.19077995A>TCA338748117UBR4c.15305T>A (p.Leu5102His)
c.2426T>A (p.Leu809His)
c.530T>A (p.Leu177His)
n.3312T>A
c.15458T>A (p.Leu5153His)
c.15455T>A (p.Leu5152His)
c.15443T>A (p.Leu5148His)
c.15440T>A (p.Leu5147His)
c.15434T>A (p.Leu5145His)
c.15425T>A (p.Leu5142His)
c.15374T>A (p.Leu5125His)
c.15371T>A (p.Leu5124His)
c.15338T>A (p.Leu5113His)
c.15335T>A (p.Leu5112His)
c.15302T>A (p.Leu5101His)
c.15572T>A (p.Leu5191His)
c.15569T>A (p.Leu5190His)
c.15557T>A (p.Leu5186His)
c.15554T>A (p.Leu5185His)
c.15548T>A (p.Leu5183His)
c.15539T>A (p.Leu5180His)
c.15488T>A (p.Leu5163His)
c.15485T>A (p.Leu5162His)
c.15452T>A (p.Leu5151His)
c.15449T>A (p.Leu5150His)
c.15416T>A (p.Leu5139His)
c.15551T>A (p.Leu5184His)
c.15524T>A (p.Leu5175His)
c.15470T>A (p.Leu5157His)
c.15437T>A (p.Leu5146His)
c.15413T>A (p.Leu5138His)
c.15365T>A (p.Leu5122His)
c.15314T>A (p.Leu5105His)
1g.19077996G>ACA338748119UBR4c.15304C>T (p.Leu5102Phe)
c.2425C>T (p.Leu809Phe)
c.529C>T (p.Leu177Phe)
n.3311C>T
c.15457C>T (p.Leu5153Phe)
c.15454C>T (p.Leu5152Phe)
c.15442C>T (p.Leu5148Phe)
c.15439C>T (p.Leu5147Phe)
c.15433C>T (p.Leu5145Phe)
c.15424C>T (p.Leu5142Phe)
c.15373C>T (p.Leu5125Phe)
c.15370C>T (p.Leu5124Phe)
c.15337C>T (p.Leu5113Phe)
c.15334C>T (p.Leu5112Phe)
c.15301C>T (p.Leu5101Phe)
c.15571C>T (p.Leu5191Phe)
c.15568C>T (p.Leu5190Phe)
c.15556C>T (p.Leu5186Phe)
c.15553C>T (p.Leu5185Phe)
c.15547C>T (p.Leu5183Phe)
c.15538C>T (p.Leu5180Phe)
c.15487C>T (p.Leu5163Phe)
c.15484C>T (p.Leu5162Phe)
c.15451C>T (p.Leu5151Phe)
c.15448C>T (p.Leu5150Phe)
c.15415C>T (p.Leu5139Phe)
c.15550C>T (p.Leu5184Phe)
c.15523C>T (p.Leu5175Phe)
c.15469C>T (p.Leu5157Phe)
c.15436C>T (p.Leu5146Phe)
c.15412C>T (p.Leu5138Phe)
c.15364C>T (p.Leu5122Phe)
c.15313C>T (p.Leu5105Phe)
 dbSNP
1g.19077996G>CCA338748121UBR4c.15304C>G (p.Leu5102Val)
c.2425C>G (p.Leu809Val)
c.529C>G (p.Leu177Val)
n.3311C>G
c.15457C>G (p.Leu5153Val)
c.15454C>G (p.Leu5152Val)
c.15442C>G (p.Leu5148Val)
c.15439C>G (p.Leu5147Val)
c.15433C>G (p.Leu5145Val)
c.15424C>G (p.Leu5142Val)
c.15373C>G (p.Leu5125Val)
c.15370C>G (p.Leu5124Val)
c.15337C>G (p.Leu5113Val)
c.15334C>G (p.Leu5112Val)
c.15301C>G (p.Leu5101Val)
c.15571C>G (p.Leu5191Val)
c.15568C>G (p.Leu5190Val)
c.15556C>G (p.Leu5186Val)
c.15553C>G (p.Leu5185Val)
c.15547C>G (p.Leu5183Val)
c.15538C>G (p.Leu5180Val)
c.15487C>G (p.Leu5163Val)
c.15484C>G (p.Leu5162Val)
c.15451C>G (p.Leu5151Val)
c.15448C>G (p.Leu5150Val)
c.15415C>G (p.Leu5139Val)
c.15550C>G (p.Leu5184Val)
c.15523C>G (p.Leu5175Val)
c.15469C>G (p.Leu5157Val)
c.15436C>G (p.Leu5146Val)
c.15412C>G (p.Leu5138Val)
c.15364C>G (p.Leu5122Val)
c.15313C>G (p.Leu5105Val)
1g.19077996G=CA1156956070UBR4c.15304C= (p.Leu5102=)
c.2425C= (p.Leu809=)
c.529C= (p.Leu177=)
n.3311C=
c.15457C= (p.Leu5153=)
c.15454C= (p.Leu5152=)
c.15442C= (p.Leu5148=)
c.15439C= (p.Leu5147=)
c.15433C= (p.Leu5145=)
c.15424C= (p.Leu5142=)
c.15373C= (p.Leu5125=)
c.15370C= (p.Leu5124=)
c.15337C= (p.Leu5113=)
c.15334C= (p.Leu5112=)
c.15301C= (p.Leu5101=)
c.15571C= (p.Leu5191=)
c.15568C= (p.Leu5190=)
c.15556C= (p.Leu5186=)
c.15553C= (p.Leu5185=)
c.15547C= (p.Leu5183=)
c.15538C= (p.Leu5180=)
c.15487C= (p.Leu5163=)
c.15484C= (p.Leu5162=)
c.15451C= (p.Leu5151=)
c.15448C= (p.Leu5150=)
c.15415C= (p.Leu5139=)
c.15550C= (p.Leu5184=)
c.15523C= (p.Leu5175=)
c.15469C= (p.Leu5157=)
c.15436C= (p.Leu5146=)
c.15412C= (p.Leu5138=)
c.15364C= (p.Leu5122=)
c.15313C= (p.Leu5105=)
1g.19077996G>TCA338748123UBR4c.15304C>A (p.Leu5102Ile)
c.2425C>A (p.Leu809Ile)
c.529C>A (p.Leu177Ile)
n.3311C>A
c.15457C>A (p.Leu5153Ile)
c.15454C>A (p.Leu5152Ile)
c.15442C>A (p.Leu5148Ile)
c.15439C>A (p.Leu5147Ile)
c.15433C>A (p.Leu5145Ile)
c.15424C>A (p.Leu5142Ile)
c.15373C>A (p.Leu5125Ile)
c.15370C>A (p.Leu5124Ile)
c.15337C>A (p.Leu5113Ile)
c.15334C>A (p.Leu5112Ile)
c.15301C>A (p.Leu5101Ile)
c.15571C>A (p.Leu5191Ile)
c.15568C>A (p.Leu5190Ile)
c.15556C>A (p.Leu5186Ile)
c.15553C>A (p.Leu5185Ile)
c.15547C>A (p.Leu5183Ile)
c.15538C>A (p.Leu5180Ile)
c.15487C>A (p.Leu5163Ile)
c.15484C>A (p.Leu5162Ile)
c.15451C>A (p.Leu5151Ile)
c.15448C>A (p.Leu5150Ile)
c.15415C>A (p.Leu5139Ile)
c.15550C>A (p.Leu5184Ile)
c.15523C>A (p.Leu5175Ile)
c.15469C>A (p.Leu5157Ile)
c.15436C>A (p.Leu5146Ile)
c.15412C>A (p.Leu5138Ile)
c.15364C>A (p.Leu5122Ile)
c.15313C>A (p.Leu5105Ile)
 gnomAD v4
1g.19077997A=CA1156956071UBR4c.15303T= (p.Asp5101=)
c.2424T= (p.Asp808=)
c.528T= (p.Asp176=)
n.3310T=
c.15456T= (p.Asp5152=)
c.15453T= (p.Asp5151=)
c.15441T= (p.Asp5147=)
c.15438T= (p.Asp5146=)
c.15432T= (p.Asp5144=)
c.15423T= (p.Asp5141=)
c.15372T= (p.Asp5124=)
c.15369T= (p.Asp5123=)
c.15336T= (p.Asp5112=)
c.15333T= (p.Asp5111=)
c.15300T= (p.Asp5100=)
c.15570T= (p.Asp5190=)
c.15567T= (p.Asp5189=)
c.15555T= (p.Asp5185=)
c.15552T= (p.Asp5184=)
c.15546T= (p.Asp5182=)
c.15537T= (p.Asp5179=)
c.15486T= (p.Asp5162=)
c.15483T= (p.Asp5161=)
c.15450T= (p.Asp5150=)
c.15447T= (p.Asp5149=)
c.15414T= (p.Asp5138=)
c.15549T= (p.Asp5183=)
c.15522T= (p.Asp5174=)
c.15468T= (p.Asp5156=)
c.15435T= (p.Asp5145=)
c.15411T= (p.Asp5137=)
c.15363T= (p.Asp5121=)
c.15312T= (p.Asp5104=)
1g.19077997A>CCA338748125UBR4c.15303T>G (p.Asp5101Glu)
c.2424T>G (p.Asp808Glu)
c.528T>G (p.Asp176Glu)
n.3310T>G
c.15456T>G (p.Asp5152Glu)
c.15453T>G (p.Asp5151Glu)
c.15441T>G (p.Asp5147Glu)
c.15438T>G (p.Asp5146Glu)
c.15432T>G (p.Asp5144Glu)
c.15423T>G (p.Asp5141Glu)
c.15372T>G (p.Asp5124Glu)
c.15369T>G (p.Asp5123Glu)
c.15336T>G (p.Asp5112Glu)
c.15333T>G (p.Asp5111Glu)
c.15300T>G (p.Asp5100Glu)
c.15570T>G (p.Asp5190Glu)
c.15567T>G (p.Asp5189Glu)
c.15555T>G (p.Asp5185Glu)
c.15552T>G (p.Asp5184Glu)
c.15546T>G (p.Asp5182Glu)
c.15537T>G (p.Asp5179Glu)
c.15486T>G (p.Asp5162Glu)
c.15483T>G (p.Asp5161Glu)
c.15450T>G (p.Asp5150Glu)
c.15447T>G (p.Asp5149Glu)
c.15414T>G (p.Asp5138Glu)
c.15549T>G (p.Asp5183Glu)
c.15522T>G (p.Asp5174Glu)
c.15468T>G (p.Asp5156Glu)
c.15435T>G (p.Asp5145Glu)
c.15411T>G (p.Asp5137Glu)
c.15363T>G (p.Asp5121Glu)
c.15312T>G (p.Asp5104Glu)
1g.19077997A>GCA416453054UBR4c.15303T>C (p.Asp5101=)
c.2424T>C (p.Asp808=)
c.528T>C (p.Asp176=)
n.3310T>C
c.15456T>C (p.Asp5152=)
c.15453T>C (p.Asp5151=)
c.15441T>C (p.Asp5147=)
c.15438T>C (p.Asp5146=)
c.15432T>C (p.Asp5144=)
c.15423T>C (p.Asp5141=)
c.15372T>C (p.Asp5124=)
c.15369T>C (p.Asp5123=)
c.15336T>C (p.Asp5112=)
c.15333T>C (p.Asp5111=)
c.15300T>C (p.Asp5100=)
c.15570T>C (p.Asp5190=)
c.15567T>C (p.Asp5189=)
c.15555T>C (p.Asp5185=)
c.15552T>C (p.Asp5184=)
c.15546T>C (p.Asp5182=)
c.15537T>C (p.Asp5179=)
c.15486T>C (p.Asp5162=)
c.15483T>C (p.Asp5161=)
c.15450T>C (p.Asp5150=)
c.15447T>C (p.Asp5149=)
c.15414T>C (p.Asp5138=)
c.15549T>C (p.Asp5183=)
c.15522T>C (p.Asp5174=)
c.15468T>C (p.Asp5156=)
c.15435T>C (p.Asp5145=)
c.15411T>C (p.Asp5137=)
c.15363T>C (p.Asp5121=)
c.15312T>C (p.Asp5104=)
 dbSNP gnomAD v4
1g.19077997A>TCA338748127UBR4c.15303T>A (p.Asp5101Glu)
c.2424T>A (p.Asp808Glu)
c.528T>A (p.Asp176Glu)
n.3310T>A
c.15456T>A (p.Asp5152Glu)
c.15453T>A (p.Asp5151Glu)
c.15441T>A (p.Asp5147Glu)
c.15438T>A (p.Asp5146Glu)
c.15432T>A (p.Asp5144Glu)
c.15423T>A (p.Asp5141Glu)
c.15372T>A (p.Asp5124Glu)
c.15369T>A (p.Asp5123Glu)
c.15336T>A (p.Asp5112Glu)
c.15333T>A (p.Asp5111Glu)
c.15300T>A (p.Asp5100Glu)
c.15570T>A (p.Asp5190Glu)
c.15567T>A (p.Asp5189Glu)
c.15555T>A (p.Asp5185Glu)
c.15552T>A (p.Asp5184Glu)
c.15546T>A (p.Asp5182Glu)
c.15537T>A (p.Asp5179Glu)
c.15486T>A (p.Asp5162Glu)
c.15483T>A (p.Asp5161Glu)
c.15450T>A (p.Asp5150Glu)
c.15447T>A (p.Asp5149Glu)
c.15414T>A (p.Asp5138Glu)
c.15549T>A (p.Asp5183Glu)
c.15522T>A (p.Asp5174Glu)
c.15468T>A (p.Asp5156Glu)
c.15435T>A (p.Asp5145Glu)
c.15411T>A (p.Asp5137Glu)
c.15363T>A (p.Asp5121Glu)
c.15312T>A (p.Asp5104Glu)
1g.19077998T>ACA338748129UBR4c.15302A>T (p.Asp5101Val)
c.2423A>T (p.Asp808Val)
c.527A>T (p.Asp176Val)
n.3309A>T
c.15455A>T (p.Asp5152Val)
c.15452A>T (p.Asp5151Val)
c.15440A>T (p.Asp5147Val)
c.15437A>T (p.Asp5146Val)
c.15431A>T (p.Asp5144Val)
c.15422A>T (p.Asp5141Val)
c.15371A>T (p.Asp5124Val)
c.15368A>T (p.Asp5123Val)
c.15335A>T (p.Asp5112Val)
c.15332A>T (p.Asp5111Val)
c.15299A>T (p.Asp5100Val)
c.15569A>T (p.Asp5190Val)
c.15566A>T (p.Asp5189Val)
c.15554A>T (p.Asp5185Val)
c.15551A>T (p.Asp5184Val)
c.15545A>T (p.Asp5182Val)
c.15536A>T (p.Asp5179Val)
c.15485A>T (p.Asp5162Val)
c.15482A>T (p.Asp5161Val)
c.15449A>T (p.Asp5150Val)
c.15446A>T (p.Asp5149Val)
c.15413A>T (p.Asp5138Val)
c.15548A>T (p.Asp5183Val)
c.15521A>T (p.Asp5174Val)
c.15467A>T (p.Asp5156Val)
c.15434A>T (p.Asp5145Val)
c.15410A>T (p.Asp5137Val)
c.15362A>T (p.Asp5121Val)
c.15311A>T (p.Asp5104Val)
1g.19077998T>CCA338748130UBR4c.15302A>G (p.Asp5101Gly)
c.2423A>G (p.Asp808Gly)
c.527A>G (p.Asp176Gly)
n.3309A>G
c.15455A>G (p.Asp5152Gly)
c.15452A>G (p.Asp5151Gly)
c.15440A>G (p.Asp5147Gly)
c.15437A>G (p.Asp5146Gly)
c.15431A>G (p.Asp5144Gly)
c.15422A>G (p.Asp5141Gly)
c.15371A>G (p.Asp5124Gly)
c.15368A>G (p.Asp5123Gly)
c.15335A>G (p.Asp5112Gly)
c.15332A>G (p.Asp5111Gly)
c.15299A>G (p.Asp5100Gly)
c.15569A>G (p.Asp5190Gly)
c.15566A>G (p.Asp5189Gly)
c.15554A>G (p.Asp5185Gly)
c.15551A>G (p.Asp5184Gly)
c.15545A>G (p.Asp5182Gly)
c.15536A>G (p.Asp5179Gly)
c.15485A>G (p.Asp5162Gly)
c.15482A>G (p.Asp5161Gly)
c.15449A>G (p.Asp5150Gly)
c.15446A>G (p.Asp5149Gly)
c.15413A>G (p.Asp5138Gly)
c.15548A>G (p.Asp5183Gly)
c.15521A>G (p.Asp5174Gly)
c.15467A>G (p.Asp5156Gly)
c.15434A>G (p.Asp5145Gly)
c.15410A>G (p.Asp5137Gly)
c.15362A>G (p.Asp5121Gly)
c.15311A>G (p.Asp5104Gly)
1g.19077998T>GCA338748131UBR4c.15302A>C (p.Asp5101Ala)
c.2423A>C (p.Asp808Ala)
c.527A>C (p.Asp176Ala)
n.3309A>C
c.15455A>C (p.Asp5152Ala)
c.15452A>C (p.Asp5151Ala)
c.15440A>C (p.Asp5147Ala)
c.15437A>C (p.Asp5146Ala)
c.15431A>C (p.Asp5144Ala)
c.15422A>C (p.Asp5141Ala)
c.15371A>C (p.Asp5124Ala)
c.15368A>C (p.Asp5123Ala)
c.15335A>C (p.Asp5112Ala)
c.15332A>C (p.Asp5111Ala)
c.15299A>C (p.Asp5100Ala)
c.15569A>C (p.Asp5190Ala)
c.15566A>C (p.Asp5189Ala)
c.15554A>C (p.Asp5185Ala)
c.15551A>C (p.Asp5184Ala)
c.15545A>C (p.Asp5182Ala)
c.15536A>C (p.Asp5179Ala)
c.15485A>C (p.Asp5162Ala)
c.15482A>C (p.Asp5161Ala)
c.15449A>C (p.Asp5150Ala)
c.15446A>C (p.Asp5149Ala)
c.15413A>C (p.Asp5138Ala)
c.15548A>C (p.Asp5183Ala)
c.15521A>C (p.Asp5174Ala)
c.15467A>C (p.Asp5156Ala)
c.15434A>C (p.Asp5145Ala)
c.15410A>C (p.Asp5137Ala)
c.15362A>C (p.Asp5121Ala)
c.15311A>C (p.Asp5104Ala)
1g.19077999C>ACA338748133UBR4c.15301G>T (p.Asp5101Tyr)
c.2422G>T (p.Asp808Tyr)
c.526G>T (p.Asp176Tyr)
n.3308G>T
c.15454G>T (p.Asp5152Tyr)
c.15451G>T (p.Asp5151Tyr)
c.15439G>T (p.Asp5147Tyr)
c.15436G>T (p.Asp5146Tyr)
c.15430G>T (p.Asp5144Tyr)
c.15421G>T (p.Asp5141Tyr)
c.15370G>T (p.Asp5124Tyr)
c.15367G>T (p.Asp5123Tyr)
c.15334G>T (p.Asp5112Tyr)
c.15331G>T (p.Asp5111Tyr)
c.15298G>T (p.Asp5100Tyr)
c.15568G>T (p.Asp5190Tyr)
c.15565G>T (p.Asp5189Tyr)
c.15553G>T (p.Asp5185Tyr)
c.15550G>T (p.Asp5184Tyr)
c.15544G>T (p.Asp5182Tyr)
c.15535G>T (p.Asp5179Tyr)
c.15484G>T (p.Asp5162Tyr)
c.15481G>T (p.Asp5161Tyr)
c.15448G>T (p.Asp5150Tyr)
c.15445G>T (p.Asp5149Tyr)
c.15412G>T (p.Asp5138Tyr)
c.15547G>T (p.Asp5183Tyr)
c.15520G>T (p.Asp5174Tyr)
c.15466G>T (p.Asp5156Tyr)
c.15433G>T (p.Asp5145Tyr)
c.15409G>T (p.Asp5137Tyr)
c.15361G>T (p.Asp5121Tyr)
c.15310G>T (p.Asp5104Tyr)
1g.19077999C=CA1156956072UBR4c.15301G= (p.Asp5101=)
c.2422G= (p.Asp808=)
c.526G= (p.Asp176=)
n.3308G=
c.15454G= (p.Asp5152=)
c.15451G= (p.Asp5151=)
c.15439G= (p.Asp5147=)
c.15436G= (p.Asp5146=)
c.15430G= (p.Asp5144=)
c.15421G= (p.Asp5141=)
c.15370G= (p.Asp5124=)
c.15367G= (p.Asp5123=)
c.15334G= (p.Asp5112=)
c.15331G= (p.Asp5111=)
c.15298G= (p.Asp5100=)
c.15568G= (p.Asp5190=)
c.15565G= (p.Asp5189=)
c.15553G= (p.Asp5185=)
c.15550G= (p.Asp5184=)
c.15544G= (p.Asp5182=)
c.15535G= (p.Asp5179=)
c.15484G= (p.Asp5162=)
c.15481G= (p.Asp5161=)
c.15448G= (p.Asp5150=)
c.15445G= (p.Asp5149=)
c.15412G= (p.Asp5138=)
c.15547G= (p.Asp5183=)
c.15520G= (p.Asp5174=)
c.15466G= (p.Asp5156=)
c.15433G= (p.Asp5145=)
c.15409G= (p.Asp5137=)
c.15361G= (p.Asp5121=)
c.15310G= (p.Asp5104=)
1g.19077999C>GCA338748132UBR4c.15301G>C (p.Asp5101His)
c.2422G>C (p.Asp808His)
c.526G>C (p.Asp176His)
n.3308G>C
c.15454G>C (p.Asp5152His)
c.15451G>C (p.Asp5151His)
c.15439G>C (p.Asp5147His)
c.15436G>C (p.Asp5146His)
c.15430G>C (p.Asp5144His)
c.15421G>C (p.Asp5141His)
c.15370G>C (p.Asp5124His)
c.15367G>C (p.Asp5123His)
c.15334G>C (p.Asp5112His)
c.15331G>C (p.Asp5111His)
c.15298G>C (p.Asp5100His)
c.15568G>C (p.Asp5190His)
c.15565G>C (p.Asp5189His)
c.15553G>C (p.Asp5185His)
c.15550G>C (p.Asp5184His)
c.15544G>C (p.Asp5182His)
c.15535G>C (p.Asp5179His)
c.15484G>C (p.Asp5162His)
c.15481G>C (p.Asp5161His)
c.15448G>C (p.Asp5150His)
c.15445G>C (p.Asp5149His)
c.15412G>C (p.Asp5138His)
c.15547G>C (p.Asp5183His)
c.15520G>C (p.Asp5174His)
c.15466G>C (p.Asp5156His)
c.15433G>C (p.Asp5145His)
c.15409G>C (p.Asp5137His)
c.15361G>C (p.Asp5121His)
c.15310G>C (p.Asp5104His)
1g.19077999C>TCA647912UBR4c.15301G>A (p.Asp5101Asn)
c.2422G>A (p.Asp808Asn)
c.526G>A (p.Asp176Asn)
n.3308G>A
c.15454G>A (p.Asp5152Asn)
c.15451G>A (p.Asp5151Asn)
c.15439G>A (p.Asp5147Asn)
c.15436G>A (p.Asp5146Asn)
c.15430G>A (p.Asp5144Asn)
c.15421G>A (p.Asp5141Asn)
c.15370G>A (p.Asp5124Asn)
c.15367G>A (p.Asp5123Asn)
c.15334G>A (p.Asp5112Asn)
c.15331G>A (p.Asp5111Asn)
c.15298G>A (p.Asp5100Asn)
c.15568G>A (p.Asp5190Asn)
c.15565G>A (p.Asp5189Asn)
c.15553G>A (p.Asp5185Asn)
c.15550G>A (p.Asp5184Asn)
c.15544G>A (p.Asp5182Asn)
c.15535G>A (p.Asp5179Asn)
c.15484G>A (p.Asp5162Asn)
c.15481G>A (p.Asp5161Asn)
c.15448G>A (p.Asp5150Asn)
c.15445G>A (p.Asp5149Asn)
c.15412G>A (p.Asp5138Asn)
c.15547G>A (p.Asp5183Asn)
c.15520G>A (p.Asp5174Asn)
c.15466G>A (p.Asp5156Asn)
c.15433G>A (p.Asp5145Asn)
c.15409G>A (p.Asp5137Asn)
c.15361G>A (p.Asp5121Asn)
c.15310G>A (p.Asp5104Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078000G>ACA647913UBR4c.15300C>T (p.Val5100=)
c.2421C>T (p.Val807=)
c.525C>T (p.Val175=)
n.3307C>T
c.15453C>T (p.Val5151=)
c.15450C>T (p.Val5150=)
c.15438C>T (p.Val5146=)
c.15435C>T (p.Val5145=)
c.15429C>T (p.Val5143=)
c.15420C>T (p.Val5140=)
c.15369C>T (p.Val5123=)
c.15366C>T (p.Val5122=)
c.15333C>T (p.Val5111=)
c.15330C>T (p.Val5110=)
c.15297C>T (p.Val5099=)
c.15567C>T (p.Val5189=)
c.15564C>T (p.Val5188=)
c.15552C>T (p.Val5184=)
c.15549C>T (p.Val5183=)
c.15543C>T (p.Val5181=)
c.15534C>T (p.Val5178=)
c.15483C>T (p.Val5161=)
c.15480C>T (p.Val5160=)
c.15447C>T (p.Val5149=)
c.15444C>T (p.Val5148=)
c.15411C>T (p.Val5137=)
c.15546C>T (p.Val5182=)
c.15519C>T (p.Val5173=)
c.15465C>T (p.Val5155=)
c.15432C>T (p.Val5144=)
c.15408C>T (p.Val5136=)
c.15360C>T (p.Val5120=)
c.15309C>T (p.Val5103=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.19078000G>CCA416453066UBR4c.15300C>G (p.Val5100=)
c.2421C>G (p.Val807=)
c.525C>G (p.Val175=)
n.3307C>G
c.15453C>G (p.Val5151=)
c.15450C>G (p.Val5150=)
c.15438C>G (p.Val5146=)
c.15435C>G (p.Val5145=)
c.15429C>G (p.Val5143=)
c.15420C>G (p.Val5140=)
c.15369C>G (p.Val5123=)
c.15366C>G (p.Val5122=)
c.15333C>G (p.Val5111=)
c.15330C>G (p.Val5110=)
c.15297C>G (p.Val5099=)
c.15567C>G (p.Val5189=)
c.15564C>G (p.Val5188=)
c.15552C>G (p.Val5184=)
c.15549C>G (p.Val5183=)
c.15543C>G (p.Val5181=)
c.15534C>G (p.Val5178=)
c.15483C>G (p.Val5161=)
c.15480C>G (p.Val5160=)
c.15447C>G (p.Val5149=)
c.15444C>G (p.Val5148=)
c.15411C>G (p.Val5137=)
c.15546C>G (p.Val5182=)
c.15519C>G (p.Val5173=)
c.15465C>G (p.Val5155=)
c.15432C>G (p.Val5144=)
c.15408C>G (p.Val5136=)
c.15360C>G (p.Val5120=)
c.15309C>G (p.Val5103=)
1g.19078000G=CA1148869634UBR4c.15300C= (p.Val5100=)
c.2421C= (p.Val807=)
c.525C= (p.Val175=)
n.3307C=
c.15453C= (p.Val5151=)
c.15450C= (p.Val5150=)
c.15438C= (p.Val5146=)
c.15435C= (p.Val5145=)
c.15429C= (p.Val5143=)
c.15420C= (p.Val5140=)
c.15369C= (p.Val5123=)
c.15366C= (p.Val5122=)
c.15333C= (p.Val5111=)
c.15330C= (p.Val5110=)
c.15297C= (p.Val5099=)
c.15567C= (p.Val5189=)
c.15564C= (p.Val5188=)
c.15552C= (p.Val5184=)
c.15549C= (p.Val5183=)
c.15543C= (p.Val5181=)
c.15534C= (p.Val5178=)
c.15483C= (p.Val5161=)
c.15480C= (p.Val5160=)
c.15447C= (p.Val5149=)
c.15444C= (p.Val5148=)
c.15411C= (p.Val5137=)
c.15546C= (p.Val5182=)
c.15519C= (p.Val5173=)
c.15465C= (p.Val5155=)
c.15432C= (p.Val5144=)
c.15408C= (p.Val5136=)
c.15360C= (p.Val5120=)
c.15309C= (p.Val5103=)
1g.19078000G>TCA416453068UBR4c.15300C>A (p.Val5100=)
c.2421C>A (p.Val807=)
c.525C>A (p.Val175=)
n.3307C>A
c.15453C>A (p.Val5151=)
c.15450C>A (p.Val5150=)
c.15438C>A (p.Val5146=)
c.15435C>A (p.Val5145=)
c.15429C>A (p.Val5143=)
c.15420C>A (p.Val5140=)
c.15369C>A (p.Val5123=)
c.15366C>A (p.Val5122=)
c.15333C>A (p.Val5111=)
c.15330C>A (p.Val5110=)
c.15297C>A (p.Val5099=)
c.15567C>A (p.Val5189=)
c.15564C>A (p.Val5188=)
c.15552C>A (p.Val5184=)
c.15549C>A (p.Val5183=)
c.15543C>A (p.Val5181=)
c.15534C>A (p.Val5178=)
c.15483C>A (p.Val5161=)
c.15480C>A (p.Val5160=)
c.15447C>A (p.Val5149=)
c.15444C>A (p.Val5148=)
c.15411C>A (p.Val5137=)
c.15546C>A (p.Val5182=)
c.15519C>A (p.Val5173=)
c.15465C>A (p.Val5155=)
c.15432C>A (p.Val5144=)
c.15408C>A (p.Val5136=)
c.15360C>A (p.Val5120=)
c.15309C>A (p.Val5103=)
1g.19078001A>CCA338748136UBR4c.15299T>G (p.Val5100Gly)
c.2420T>G (p.Val807Gly)
c.524T>G (p.Val175Gly)
n.3306T>G
c.15452T>G (p.Val5151Gly)
c.15449T>G (p.Val5150Gly)
c.15437T>G (p.Val5146Gly)
c.15434T>G (p.Val5145Gly)
c.15428T>G (p.Val5143Gly)
c.15419T>G (p.Val5140Gly)
c.15368T>G (p.Val5123Gly)
c.15365T>G (p.Val5122Gly)
c.15332T>G (p.Val5111Gly)
c.15329T>G (p.Val5110Gly)
c.15296T>G (p.Val5099Gly)
c.15566T>G (p.Val5189Gly)
c.15563T>G (p.Val5188Gly)
c.15551T>G (p.Val5184Gly)
c.15548T>G (p.Val5183Gly)
c.15542T>G (p.Val5181Gly)
c.15533T>G (p.Val5178Gly)
c.15482T>G (p.Val5161Gly)
c.15479T>G (p.Val5160Gly)
c.15446T>G (p.Val5149Gly)
c.15443T>G (p.Val5148Gly)
c.15410T>G (p.Val5137Gly)
c.15545T>G (p.Val5182Gly)
c.15518T>G (p.Val5173Gly)
c.15464T>G (p.Val5155Gly)
c.15431T>G (p.Val5144Gly)
c.15407T>G (p.Val5136Gly)
c.15359T>G (p.Val5120Gly)
c.15308T>G (p.Val5103Gly)
1g.19078001A>GCA338748134UBR4c.15299T>C (p.Val5100Ala)
c.2420T>C (p.Val807Ala)
c.524T>C (p.Val175Ala)
n.3306T>C
c.15452T>C (p.Val5151Ala)
c.15449T>C (p.Val5150Ala)
c.15437T>C (p.Val5146Ala)
c.15434T>C (p.Val5145Ala)
c.15428T>C (p.Val5143Ala)
c.15419T>C (p.Val5140Ala)
c.15368T>C (p.Val5123Ala)
c.15365T>C (p.Val5122Ala)
c.15332T>C (p.Val5111Ala)
c.15329T>C (p.Val5110Ala)
c.15296T>C (p.Val5099Ala)
c.15566T>C (p.Val5189Ala)
c.15563T>C (p.Val5188Ala)
c.15551T>C (p.Val5184Ala)
c.15548T>C (p.Val5183Ala)
c.15542T>C (p.Val5181Ala)
c.15533T>C (p.Val5178Ala)
c.15482T>C (p.Val5161Ala)
c.15479T>C (p.Val5160Ala)
c.15446T>C (p.Val5149Ala)
c.15443T>C (p.Val5148Ala)
c.15410T>C (p.Val5137Ala)
c.15545T>C (p.Val5182Ala)
c.15518T>C (p.Val5173Ala)
c.15464T>C (p.Val5155Ala)
c.15431T>C (p.Val5144Ala)
c.15407T>C (p.Val5136Ala)
c.15359T>C (p.Val5120Ala)
c.15308T>C (p.Val5103Ala)
1g.19078001A>TCA338748135UBR4c.15299T>A (p.Val5100Asp)
c.2420T>A (p.Val807Asp)
c.524T>A (p.Val175Asp)
n.3306T>A
c.15452T>A (p.Val5151Asp)
c.15449T>A (p.Val5150Asp)
c.15437T>A (p.Val5146Asp)
c.15434T>A (p.Val5145Asp)
c.15428T>A (p.Val5143Asp)
c.15419T>A (p.Val5140Asp)
c.15368T>A (p.Val5123Asp)
c.15365T>A (p.Val5122Asp)
c.15332T>A (p.Val5111Asp)
c.15329T>A (p.Val5110Asp)
c.15296T>A (p.Val5099Asp)
c.15566T>A (p.Val5189Asp)
c.15563T>A (p.Val5188Asp)
c.15551T>A (p.Val5184Asp)
c.15548T>A (p.Val5183Asp)
c.15542T>A (p.Val5181Asp)
c.15533T>A (p.Val5178Asp)
c.15482T>A (p.Val5161Asp)
c.15479T>A (p.Val5160Asp)
c.15446T>A (p.Val5149Asp)
c.15443T>A (p.Val5148Asp)
c.15410T>A (p.Val5137Asp)
c.15545T>A (p.Val5182Asp)
c.15518T>A (p.Val5173Asp)
c.15464T>A (p.Val5155Asp)
c.15431T>A (p.Val5144Asp)
c.15407T>A (p.Val5136Asp)
c.15359T>A (p.Val5120Asp)
c.15308T>A (p.Val5103Asp)
1g.19078002C>ACA338748137UBR4c.15298G>T (p.Val5100Phe)
c.2419G>T (p.Val807Phe)
c.523G>T (p.Val175Phe)
n.3305G>T
c.15451G>T (p.Val5151Phe)
c.15448G>T (p.Val5150Phe)
c.15436G>T (p.Val5146Phe)
c.15433G>T (p.Val5145Phe)
c.15427G>T (p.Val5143Phe)
c.15418G>T (p.Val5140Phe)
c.15367G>T (p.Val5123Phe)
c.15364G>T (p.Val5122Phe)
c.15331G>T (p.Val5111Phe)
c.15328G>T (p.Val5110Phe)
c.15295G>T (p.Val5099Phe)
c.15565G>T (p.Val5189Phe)
c.15562G>T (p.Val5188Phe)
c.15550G>T (p.Val5184Phe)
c.15547G>T (p.Val5183Phe)
c.15541G>T (p.Val5181Phe)
c.15532G>T (p.Val5178Phe)
c.15481G>T (p.Val5161Phe)
c.15478G>T (p.Val5160Phe)
c.15445G>T (p.Val5149Phe)
c.15442G>T (p.Val5148Phe)
c.15409G>T (p.Val5137Phe)
c.15544G>T (p.Val5182Phe)
c.15517G>T (p.Val5173Phe)
c.15463G>T (p.Val5155Phe)
c.15430G>T (p.Val5144Phe)
c.15406G>T (p.Val5136Phe)
c.15358G>T (p.Val5120Phe)
c.15307G>T (p.Val5103Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.19078002C=CA1156956073UBR4c.15298G= (p.Val5100=)
c.2419G= (p.Val807=)
c.523G= (p.Val175=)
n.3305G=
c.15451G= (p.Val5151=)
c.15448G= (p.Val5150=)
c.15436G= (p.Val5146=)
c.15433G= (p.Val5145=)
c.15427G= (p.Val5143=)
c.15418G= (p.Val5140=)
c.15367G= (p.Val5123=)
c.15364G= (p.Val5122=)
c.15331G= (p.Val5111=)
c.15328G= (p.Val5110=)
c.15295G= (p.Val5099=)
c.15565G= (p.Val5189=)
c.15562G= (p.Val5188=)
c.15550G= (p.Val5184=)
c.15547G= (p.Val5183=)
c.15541G= (p.Val5181=)
c.15532G= (p.Val5178=)
c.15481G= (p.Val5161=)
c.15478G= (p.Val5160=)
c.15445G= (p.Val5149=)
c.15442G= (p.Val5148=)
c.15409G= (p.Val5137=)
c.15544G= (p.Val5182=)
c.15517G= (p.Val5173=)
c.15463G= (p.Val5155=)
c.15430G= (p.Val5144=)
c.15406G= (p.Val5136=)
c.15358G= (p.Val5120=)
c.15307G= (p.Val5103=)
1g.19078002C>GCA338748138UBR4c.15298G>C (p.Val5100Leu)
c.2419G>C (p.Val807Leu)
c.523G>C (p.Val175Leu)
n.3305G>C
c.15451G>C (p.Val5151Leu)
c.15448G>C (p.Val5150Leu)
c.15436G>C (p.Val5146Leu)
c.15433G>C (p.Val5145Leu)
c.15427G>C (p.Val5143Leu)
c.15418G>C (p.Val5140Leu)
c.15367G>C (p.Val5123Leu)
c.15364G>C (p.Val5122Leu)
c.15331G>C (p.Val5111Leu)
c.15328G>C (p.Val5110Leu)
c.15295G>C (p.Val5099Leu)
c.15565G>C (p.Val5189Leu)
c.15562G>C (p.Val5188Leu)
c.15550G>C (p.Val5184Leu)
c.15547G>C (p.Val5183Leu)
c.15541G>C (p.Val5181Leu)
c.15532G>C (p.Val5178Leu)
c.15481G>C (p.Val5161Leu)
c.15478G>C (p.Val5160Leu)
c.15445G>C (p.Val5149Leu)
c.15442G>C (p.Val5148Leu)
c.15409G>C (p.Val5137Leu)
c.15544G>C (p.Val5182Leu)
c.15517G>C (p.Val5173Leu)
c.15463G>C (p.Val5155Leu)
c.15430G>C (p.Val5144Leu)
c.15406G>C (p.Val5136Leu)
c.15358G>C (p.Val5120Leu)
c.15307G>C (p.Val5103Leu)
 COSMIC COSMIC COSMIC COSMIC COSMIC
1g.19078002C>TCA647914UBR4c.15298G>A (p.Val5100Ile)
c.2419G>A (p.Val807Ile)
c.523G>A (p.Val175Ile)
n.3305G>A
c.15451G>A (p.Val5151Ile)
c.15448G>A (p.Val5150Ile)
c.15436G>A (p.Val5146Ile)
c.15433G>A (p.Val5145Ile)
c.15427G>A (p.Val5143Ile)
c.15418G>A (p.Val5140Ile)
c.15367G>A (p.Val5123Ile)
c.15364G>A (p.Val5122Ile)
c.15331G>A (p.Val5111Ile)
c.15328G>A (p.Val5110Ile)
c.15295G>A (p.Val5099Ile)
c.15565G>A (p.Val5189Ile)
c.15562G>A (p.Val5188Ile)
c.15550G>A (p.Val5184Ile)
c.15547G>A (p.Val5183Ile)
c.15541G>A (p.Val5181Ile)
c.15532G>A (p.Val5178Ile)
c.15481G>A (p.Val5161Ile)
c.15478G>A (p.Val5160Ile)
c.15445G>A (p.Val5149Ile)
c.15442G>A (p.Val5148Ile)
c.15409G>A (p.Val5137Ile)
c.15544G>A (p.Val5182Ile)
c.15517G>A (p.Val5173Ile)
c.15463G>A (p.Val5155Ile)
c.15430G>A (p.Val5144Ile)
c.15406G>A (p.Val5136Ile)
c.15358G>A (p.Val5120Ile)
c.15307G>A (p.Val5103Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078003G>ACA647915UBR4c.15297C>T (p.Leu5099=)
c.2418C>T (p.Leu806=)
c.522C>T (p.Leu174=)
n.3304C>T
c.15450C>T (p.Leu5150=)
c.15447C>T (p.Leu5149=)
c.15435C>T (p.Leu5145=)
c.15432C>T (p.Leu5144=)
c.15426C>T (p.Leu5142=)
c.15417C>T (p.Leu5139=)
c.15366C>T (p.Leu5122=)
c.15363C>T (p.Leu5121=)
c.15330C>T (p.Leu5110=)
c.15327C>T (p.Leu5109=)
c.15294C>T (p.Leu5098=)
c.15564C>T (p.Leu5188=)
c.15561C>T (p.Leu5187=)
c.15549C>T (p.Leu5183=)
c.15546C>T (p.Leu5182=)
c.15540C>T (p.Leu5180=)
c.15531C>T (p.Leu5177=)
c.15480C>T (p.Leu5160=)
c.15477C>T (p.Leu5159=)
c.15444C>T (p.Leu5148=)
c.15441C>T (p.Leu5147=)
c.15408C>T (p.Leu5136=)
c.15543C>T (p.Leu5181=)
c.15516C>T (p.Leu5172=)
c.15462C>T (p.Leu5154=)
c.15429C>T (p.Leu5143=)
c.15405C>T (p.Leu5135=)
c.15357C>T (p.Leu5119=)
c.15306C>T (p.Leu5102=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078003G>CCA416453075UBR4c.15297C>G (p.Leu5099=)
c.2418C>G (p.Leu806=)
c.522C>G (p.Leu174=)
n.3304C>G
c.15450C>G (p.Leu5150=)
c.15447C>G (p.Leu5149=)
c.15435C>G (p.Leu5145=)
c.15432C>G (p.Leu5144=)
c.15426C>G (p.Leu5142=)
c.15417C>G (p.Leu5139=)
c.15366C>G (p.Leu5122=)
c.15363C>G (p.Leu5121=)
c.15330C>G (p.Leu5110=)
c.15327C>G (p.Leu5109=)
c.15294C>G (p.Leu5098=)
c.15564C>G (p.Leu5188=)
c.15561C>G (p.Leu5187=)
c.15549C>G (p.Leu5183=)
c.15546C>G (p.Leu5182=)
c.15540C>G (p.Leu5180=)
c.15531C>G (p.Leu5177=)
c.15480C>G (p.Leu5160=)
c.15477C>G (p.Leu5159=)
c.15444C>G (p.Leu5148=)
c.15441C>G (p.Leu5147=)
c.15408C>G (p.Leu5136=)
c.15543C>G (p.Leu5181=)
c.15516C>G (p.Leu5172=)
c.15462C>G (p.Leu5154=)
c.15429C>G (p.Leu5143=)
c.15405C>G (p.Leu5135=)
c.15357C>G (p.Leu5119=)
c.15306C>G (p.Leu5102=)
1g.19078003G=CA1156956074UBR4c.15297C= (p.Leu5099=)
c.2418C= (p.Leu806=)
c.522C= (p.Leu174=)
n.3304C=
c.15450C= (p.Leu5150=)
c.15447C= (p.Leu5149=)
c.15435C= (p.Leu5145=)
c.15432C= (p.Leu5144=)
c.15426C= (p.Leu5142=)
c.15417C= (p.Leu5139=)
c.15366C= (p.Leu5122=)
c.15363C= (p.Leu5121=)
c.15330C= (p.Leu5110=)
c.15327C= (p.Leu5109=)
c.15294C= (p.Leu5098=)
c.15564C= (p.Leu5188=)
c.15561C= (p.Leu5187=)
c.15549C= (p.Leu5183=)
c.15546C= (p.Leu5182=)
c.15540C= (p.Leu5180=)
c.15531C= (p.Leu5177=)
c.15480C= (p.Leu5160=)
c.15477C= (p.Leu5159=)
c.15444C= (p.Leu5148=)
c.15441C= (p.Leu5147=)
c.15408C= (p.Leu5136=)
c.15543C= (p.Leu5181=)
c.15516C= (p.Leu5172=)
c.15462C= (p.Leu5154=)
c.15429C= (p.Leu5143=)
c.15405C= (p.Leu5135=)
c.15357C= (p.Leu5119=)
c.15306C= (p.Leu5102=)
1g.19078003G>TCA416453077UBR4c.15297C>A (p.Leu5099=)
c.2418C>A (p.Leu806=)
c.522C>A (p.Leu174=)
n.3304C>A
c.15450C>A (p.Leu5150=)
c.15447C>A (p.Leu5149=)
c.15435C>A (p.Leu5145=)
c.15432C>A (p.Leu5144=)
c.15426C>A (p.Leu5142=)
c.15417C>A (p.Leu5139=)
c.15366C>A (p.Leu5122=)
c.15363C>A (p.Leu5121=)
c.15330C>A (p.Leu5110=)
c.15327C>A (p.Leu5109=)
c.15294C>A (p.Leu5098=)
c.15564C>A (p.Leu5188=)
c.15561C>A (p.Leu5187=)
c.15549C>A (p.Leu5183=)
c.15546C>A (p.Leu5182=)
c.15540C>A (p.Leu5180=)
c.15531C>A (p.Leu5177=)
c.15480C>A (p.Leu5160=)
c.15477C>A (p.Leu5159=)
c.15444C>A (p.Leu5148=)
c.15441C>A (p.Leu5147=)
c.15408C>A (p.Leu5136=)
c.15543C>A (p.Leu5181=)
c.15516C>A (p.Leu5172=)
c.15462C>A (p.Leu5154=)
c.15429C>A (p.Leu5143=)
c.15405C>A (p.Leu5135=)
c.15357C>A (p.Leu5119=)
c.15306C>A (p.Leu5102=)
1g.19078004A>CCA338748139UBR4c.15296T>G (p.Leu5099Arg)
c.2417T>G (p.Leu806Arg)
c.521T>G (p.Leu174Arg)
n.3303T>G
c.15449T>G (p.Leu5150Arg)
c.15446T>G (p.Leu5149Arg)
c.15434T>G (p.Leu5145Arg)
c.15431T>G (p.Leu5144Arg)
c.15425T>G (p.Leu5142Arg)
c.15416T>G (p.Leu5139Arg)
c.15365T>G (p.Leu5122Arg)
c.15362T>G (p.Leu5121Arg)
c.15329T>G (p.Leu5110Arg)
c.15326T>G (p.Leu5109Arg)
c.15293T>G (p.Leu5098Arg)
c.15563T>G (p.Leu5188Arg)
c.15560T>G (p.Leu5187Arg)
c.15548T>G (p.Leu5183Arg)
c.15545T>G (p.Leu5182Arg)
c.15539T>G (p.Leu5180Arg)
c.15530T>G (p.Leu5177Arg)
c.15479T>G (p.Leu5160Arg)
c.15476T>G (p.Leu5159Arg)
c.15443T>G (p.Leu5148Arg)
c.15440T>G (p.Leu5147Arg)
c.15407T>G (p.Leu5136Arg)
c.15542T>G (p.Leu5181Arg)
c.15515T>G (p.Leu5172Arg)
c.15461T>G (p.Leu5154Arg)
c.15428T>G (p.Leu5143Arg)
c.15404T>G (p.Leu5135Arg)
c.15356T>G (p.Leu5119Arg)
c.15305T>G (p.Leu5102Arg)
1g.19078004A>GCA338748140UBR4c.15296T>C (p.Leu5099Pro)
c.2417T>C (p.Leu806Pro)
c.521T>C (p.Leu174Pro)
n.3303T>C
c.15449T>C (p.Leu5150Pro)
c.15446T>C (p.Leu5149Pro)
c.15434T>C (p.Leu5145Pro)
c.15431T>C (p.Leu5144Pro)
c.15425T>C (p.Leu5142Pro)
c.15416T>C (p.Leu5139Pro)
c.15365T>C (p.Leu5122Pro)
c.15362T>C (p.Leu5121Pro)
c.15329T>C (p.Leu5110Pro)
c.15326T>C (p.Leu5109Pro)
c.15293T>C (p.Leu5098Pro)
c.15563T>C (p.Leu5188Pro)
c.15560T>C (p.Leu5187Pro)
c.15548T>C (p.Leu5183Pro)
c.15545T>C (p.Leu5182Pro)
c.15539T>C (p.Leu5180Pro)
c.15530T>C (p.Leu5177Pro)
c.15479T>C (p.Leu5160Pro)
c.15476T>C (p.Leu5159Pro)
c.15443T>C (p.Leu5148Pro)
c.15440T>C (p.Leu5147Pro)
c.15407T>C (p.Leu5136Pro)
c.15542T>C (p.Leu5181Pro)
c.15515T>C (p.Leu5172Pro)
c.15461T>C (p.Leu5154Pro)
c.15428T>C (p.Leu5143Pro)
c.15404T>C (p.Leu5135Pro)
c.15356T>C (p.Leu5119Pro)
c.15305T>C (p.Leu5102Pro)
1g.19078004A>TCA338748141UBR4c.15296T>A (p.Leu5099His)
c.2417T>A (p.Leu806His)
c.521T>A (p.Leu174His)
n.3303T>A
c.15449T>A (p.Leu5150His)
c.15446T>A (p.Leu5149His)
c.15434T>A (p.Leu5145His)
c.15431T>A (p.Leu5144His)
c.15425T>A (p.Leu5142His)
c.15416T>A (p.Leu5139His)
c.15365T>A (p.Leu5122His)
c.15362T>A (p.Leu5121His)
c.15329T>A (p.Leu5110His)
c.15326T>A (p.Leu5109His)
c.15293T>A (p.Leu5098His)
c.15563T>A (p.Leu5188His)
c.15560T>A (p.Leu5187His)
c.15548T>A (p.Leu5183His)
c.15545T>A (p.Leu5182His)
c.15539T>A (p.Leu5180His)
c.15530T>A (p.Leu5177His)
c.15479T>A (p.Leu5160His)
c.15476T>A (p.Leu5159His)
c.15443T>A (p.Leu5148His)
c.15440T>A (p.Leu5147His)
c.15407T>A (p.Leu5136His)
c.15542T>A (p.Leu5181His)
c.15515T>A (p.Leu5172His)
c.15461T>A (p.Leu5154His)
c.15428T>A (p.Leu5143His)
c.15404T>A (p.Leu5135His)
c.15356T>A (p.Leu5119His)
c.15305T>A (p.Leu5102His)
1g.19078005G>ACA338748142UBR4c.15295C>T (p.Leu5099Phe)
c.2416C>T (p.Leu806Phe)
c.520C>T (p.Leu174Phe)
n.3302C>T
c.15448C>T (p.Leu5150Phe)
c.15445C>T (p.Leu5149Phe)
c.15433C>T (p.Leu5145Phe)
c.15430C>T (p.Leu5144Phe)
c.15424C>T (p.Leu5142Phe)
c.15415C>T (p.Leu5139Phe)
c.15364C>T (p.Leu5122Phe)
c.15361C>T (p.Leu5121Phe)
c.15328C>T (p.Leu5110Phe)
c.15325C>T (p.Leu5109Phe)
c.15292C>T (p.Leu5098Phe)
c.15562C>T (p.Leu5188Phe)
c.15559C>T (p.Leu5187Phe)
c.15547C>T (p.Leu5183Phe)
c.15544C>T (p.Leu5182Phe)
c.15538C>T (p.Leu5180Phe)
c.15529C>T (p.Leu5177Phe)
c.15478C>T (p.Leu5160Phe)
c.15475C>T (p.Leu5159Phe)
c.15442C>T (p.Leu5148Phe)
c.15439C>T (p.Leu5147Phe)
c.15406C>T (p.Leu5136Phe)
c.15541C>T (p.Leu5181Phe)
c.15514C>T (p.Leu5172Phe)
c.15460C>T (p.Leu5154Phe)
c.15427C>T (p.Leu5143Phe)
c.15403C>T (p.Leu5135Phe)
c.15355C>T (p.Leu5119Phe)
c.15304C>T (p.Leu5102Phe)
 gnomAD v4
1g.19078005G>CCA338748143UBR4c.15295C>G (p.Leu5099Val)
c.2416C>G (p.Leu806Val)
c.520C>G (p.Leu174Val)
n.3302C>G
c.15448C>G (p.Leu5150Val)
c.15445C>G (p.Leu5149Val)
c.15433C>G (p.Leu5145Val)
c.15430C>G (p.Leu5144Val)
c.15424C>G (p.Leu5142Val)
c.15415C>G (p.Leu5139Val)
c.15364C>G (p.Leu5122Val)
c.15361C>G (p.Leu5121Val)
c.15328C>G (p.Leu5110Val)
c.15325C>G (p.Leu5109Val)
c.15292C>G (p.Leu5098Val)
c.15562C>G (p.Leu5188Val)
c.15559C>G (p.Leu5187Val)
c.15547C>G (p.Leu5183Val)
c.15544C>G (p.Leu5182Val)
c.15538C>G (p.Leu5180Val)
c.15529C>G (p.Leu5177Val)
c.15478C>G (p.Leu5160Val)
c.15475C>G (p.Leu5159Val)
c.15442C>G (p.Leu5148Val)
c.15439C>G (p.Leu5147Val)
c.15406C>G (p.Leu5136Val)
c.15541C>G (p.Leu5181Val)
c.15514C>G (p.Leu5172Val)
c.15460C>G (p.Leu5154Val)
c.15427C>G (p.Leu5143Val)
c.15403C>G (p.Leu5135Val)
c.15355C>G (p.Leu5119Val)
c.15304C>G (p.Leu5102Val)
1g.19078005G>TCA338748144UBR4c.15295C>A (p.Leu5099Ile)
c.2416C>A (p.Leu806Ile)
c.520C>A (p.Leu174Ile)
n.3302C>A
c.15448C>A (p.Leu5150Ile)
c.15445C>A (p.Leu5149Ile)
c.15433C>A (p.Leu5145Ile)
c.15430C>A (p.Leu5144Ile)
c.15424C>A (p.Leu5142Ile)
c.15415C>A (p.Leu5139Ile)
c.15364C>A (p.Leu5122Ile)
c.15361C>A (p.Leu5121Ile)
c.15328C>A (p.Leu5110Ile)
c.15325C>A (p.Leu5109Ile)
c.15292C>A (p.Leu5098Ile)
c.15562C>A (p.Leu5188Ile)
c.15559C>A (p.Leu5187Ile)
c.15547C>A (p.Leu5183Ile)
c.15544C>A (p.Leu5182Ile)
c.15538C>A (p.Leu5180Ile)
c.15529C>A (p.Leu5177Ile)
c.15478C>A (p.Leu5160Ile)
c.15475C>A (p.Leu5159Ile)
c.15442C>A (p.Leu5148Ile)
c.15439C>A (p.Leu5147Ile)
c.15406C>A (p.Leu5136Ile)
c.15541C>A (p.Leu5181Ile)
c.15514C>A (p.Leu5172Ile)
c.15460C>A (p.Leu5154Ile)
c.15427C>A (p.Leu5143Ile)
c.15403C>A (p.Leu5135Ile)
c.15355C>A (p.Leu5119Ile)
c.15304C>A (p.Leu5102Ile)
1g.19078006G>ACA416453088UBR4c.15294C>T (p.Ala5098=)
c.2415C>T (p.Ala805=)
c.519C>T (p.Ala173=)
n.3301C>T
c.15447C>T (p.Ala5149=)
c.15444C>T (p.Ala5148=)
c.15432C>T (p.Ala5144=)
c.15429C>T (p.Ala5143=)
c.15423C>T (p.Ala5141=)
c.15414C>T (p.Ala5138=)
c.15363C>T (p.Ala5121=)
c.15360C>T (p.Ala5120=)
c.15327C>T (p.Ala5109=)
c.15324C>T (p.Ala5108=)
c.15291C>T (p.Ala5097=)
c.15561C>T (p.Ala5187=)
c.15558C>T (p.Ala5186=)
c.15546C>T (p.Ala5182=)
c.15543C>T (p.Ala5181=)
c.15537C>T (p.Ala5179=)
c.15528C>T (p.Ala5176=)
c.15477C>T (p.Ala5159=)
c.15474C>T (p.Ala5158=)
c.15441C>T (p.Ala5147=)
c.15438C>T (p.Ala5146=)
c.15405C>T (p.Ala5135=)
c.15540C>T (p.Ala5180=)
c.15513C>T (p.Ala5171=)
c.15459C>T (p.Ala5153=)
c.15426C>T (p.Ala5142=)
c.15402C>T (p.Ala5134=)
c.15354C>T (p.Ala5118=)
c.15303C>T (p.Ala5101=)
1g.19078006G>CCA647916UBR4c.15294C>G (p.Ala5098=)
c.2415C>G (p.Ala805=)
c.519C>G (p.Ala173=)
n.3301C>G
c.15447C>G (p.Ala5149=)
c.15444C>G (p.Ala5148=)
c.15432C>G (p.Ala5144=)
c.15429C>G (p.Ala5143=)
c.15423C>G (p.Ala5141=)
c.15414C>G (p.Ala5138=)
c.15363C>G (p.Ala5121=)
c.15360C>G (p.Ala5120=)
c.15327C>G (p.Ala5109=)
c.15324C>G (p.Ala5108=)
c.15291C>G (p.Ala5097=)
c.15561C>G (p.Ala5187=)
c.15558C>G (p.Ala5186=)
c.15546C>G (p.Ala5182=)
c.15543C>G (p.Ala5181=)
c.15537C>G (p.Ala5179=)
c.15528C>G (p.Ala5176=)
c.15477C>G (p.Ala5159=)
c.15474C>G (p.Ala5158=)
c.15441C>G (p.Ala5147=)
c.15438C>G (p.Ala5146=)
c.15405C>G (p.Ala5135=)
c.15540C>G (p.Ala5180=)
c.15513C>G (p.Ala5171=)
c.15459C>G (p.Ala5153=)
c.15426C>G (p.Ala5142=)
c.15402C>G (p.Ala5134=)
c.15354C>G (p.Ala5118=)
c.15303C>G (p.Ala5101=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078006G=CA1149127390UBR4c.15294C= (p.Ala5098=)
c.2415C= (p.Ala805=)
c.519C= (p.Ala173=)
n.3301C=
c.15447C= (p.Ala5149=)
c.15444C= (p.Ala5148=)
c.15432C= (p.Ala5144=)
c.15429C= (p.Ala5143=)
c.15423C= (p.Ala5141=)
c.15414C= (p.Ala5138=)
c.15363C= (p.Ala5121=)
c.15360C= (p.Ala5120=)
c.15327C= (p.Ala5109=)
c.15324C= (p.Ala5108=)
c.15291C= (p.Ala5097=)
c.15561C= (p.Ala5187=)
c.15558C= (p.Ala5186=)
c.15546C= (p.Ala5182=)
c.15543C= (p.Ala5181=)
c.15537C= (p.Ala5179=)
c.15528C= (p.Ala5176=)
c.15477C= (p.Ala5159=)
c.15474C= (p.Ala5158=)
c.15441C= (p.Ala5147=)
c.15438C= (p.Ala5146=)
c.15405C= (p.Ala5135=)
c.15540C= (p.Ala5180=)
c.15513C= (p.Ala5171=)
c.15459C= (p.Ala5153=)
c.15426C= (p.Ala5142=)
c.15402C= (p.Ala5134=)
c.15354C= (p.Ala5118=)
c.15303C= (p.Ala5101=)
1g.19078006G>TCA416453089UBR4c.15294C>A (p.Ala5098=)
c.2415C>A (p.Ala805=)
c.519C>A (p.Ala173=)
n.3301C>A
c.15447C>A (p.Ala5149=)
c.15444C>A (p.Ala5148=)
c.15432C>A (p.Ala5144=)
c.15429C>A (p.Ala5143=)
c.15423C>A (p.Ala5141=)
c.15414C>A (p.Ala5138=)
c.15363C>A (p.Ala5121=)
c.15360C>A (p.Ala5120=)
c.15327C>A (p.Ala5109=)
c.15324C>A (p.Ala5108=)
c.15291C>A (p.Ala5097=)
c.15561C>A (p.Ala5187=)
c.15558C>A (p.Ala5186=)
c.15546C>A (p.Ala5182=)
c.15543C>A (p.Ala5181=)
c.15537C>A (p.Ala5179=)
c.15528C>A (p.Ala5176=)
c.15477C>A (p.Ala5159=)
c.15474C>A (p.Ala5158=)
c.15441C>A (p.Ala5147=)
c.15438C>A (p.Ala5146=)
c.15405C>A (p.Ala5135=)
c.15540C>A (p.Ala5180=)
c.15513C>A (p.Ala5171=)
c.15459C>A (p.Ala5153=)
c.15426C>A (p.Ala5142=)
c.15402C>A (p.Ala5134=)
c.15354C>A (p.Ala5118=)
c.15303C>A (p.Ala5101=)
1g.19078007G>ACA338748146UBR4c.15293C>T (p.Ala5098Val)
c.2414C>T (p.Ala805Val)
c.518C>T (p.Ala173Val)
n.3300C>T
c.15446C>T (p.Ala5149Val)
c.15443C>T (p.Ala5148Val)
c.15431C>T (p.Ala5144Val)
c.15428C>T (p.Ala5143Val)
c.15422C>T (p.Ala5141Val)
c.15413C>T (p.Ala5138Val)
c.15362C>T (p.Ala5121Val)
c.15359C>T (p.Ala5120Val)
c.15326C>T (p.Ala5109Val)
c.15323C>T (p.Ala5108Val)
c.15290C>T (p.Ala5097Val)
c.15560C>T (p.Ala5187Val)
c.15557C>T (p.Ala5186Val)
c.15545C>T (p.Ala5182Val)
c.15542C>T (p.Ala5181Val)
c.15536C>T (p.Ala5179Val)
c.15527C>T (p.Ala5176Val)
c.15476C>T (p.Ala5159Val)
c.15473C>T (p.Ala5158Val)
c.15440C>T (p.Ala5147Val)
c.15437C>T (p.Ala5146Val)
c.15404C>T (p.Ala5135Val)
c.15539C>T (p.Ala5180Val)
c.15512C>T (p.Ala5171Val)
c.15458C>T (p.Ala5153Val)
c.15425C>T (p.Ala5142Val)
c.15401C>T (p.Ala5134Val)
c.15353C>T (p.Ala5118Val)
c.15302C>T (p.Ala5101Val)
1g.19078007G>CCA647917UBR4c.15293C>G (p.Ala5098Gly)
c.2414C>G (p.Ala805Gly)
c.518C>G (p.Ala173Gly)
n.3300C>G
c.15446C>G (p.Ala5149Gly)
c.15443C>G (p.Ala5148Gly)
c.15431C>G (p.Ala5144Gly)
c.15428C>G (p.Ala5143Gly)
c.15422C>G (p.Ala5141Gly)
c.15413C>G (p.Ala5138Gly)
c.15362C>G (p.Ala5121Gly)
c.15359C>G (p.Ala5120Gly)
c.15326C>G (p.Ala5109Gly)
c.15323C>G (p.Ala5108Gly)
c.15290C>G (p.Ala5097Gly)
c.15560C>G (p.Ala5187Gly)
c.15557C>G (p.Ala5186Gly)
c.15545C>G (p.Ala5182Gly)
c.15542C>G (p.Ala5181Gly)
c.15536C>G (p.Ala5179Gly)
c.15527C>G (p.Ala5176Gly)
c.15476C>G (p.Ala5159Gly)
c.15473C>G (p.Ala5158Gly)
c.15440C>G (p.Ala5147Gly)
c.15437C>G (p.Ala5146Gly)
c.15404C>G (p.Ala5135Gly)
c.15539C>G (p.Ala5180Gly)
c.15512C>G (p.Ala5171Gly)
c.15458C>G (p.Ala5153Gly)
c.15425C>G (p.Ala5142Gly)
c.15401C>G (p.Ala5134Gly)
c.15353C>G (p.Ala5118Gly)
c.15302C>G (p.Ala5101Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078007G=CA1156956075UBR4c.15293C= (p.Ala5098=)
c.2414C= (p.Ala805=)
c.518C= (p.Ala173=)
n.3300C=
c.15446C= (p.Ala5149=)
c.15443C= (p.Ala5148=)
c.15431C= (p.Ala5144=)
c.15428C= (p.Ala5143=)
c.15422C= (p.Ala5141=)
c.15413C= (p.Ala5138=)
c.15362C= (p.Ala5121=)
c.15359C= (p.Ala5120=)
c.15326C= (p.Ala5109=)
c.15323C= (p.Ala5108=)
c.15290C= (p.Ala5097=)
c.15560C= (p.Ala5187=)
c.15557C= (p.Ala5186=)
c.15545C= (p.Ala5182=)
c.15542C= (p.Ala5181=)
c.15536C= (p.Ala5179=)
c.15527C= (p.Ala5176=)
c.15476C= (p.Ala5159=)
c.15473C= (p.Ala5158=)
c.15440C= (p.Ala5147=)
c.15437C= (p.Ala5146=)
c.15404C= (p.Ala5135=)
c.15539C= (p.Ala5180=)
c.15512C= (p.Ala5171=)
c.15458C= (p.Ala5153=)
c.15425C= (p.Ala5142=)
c.15401C= (p.Ala5134=)
c.15353C= (p.Ala5118=)
c.15302C= (p.Ala5101=)
1g.19078007G>TCA338748145UBR4c.15293C>A (p.Ala5098Asp)
c.2414C>A (p.Ala805Asp)
c.518C>A (p.Ala173Asp)
n.3300C>A
c.15446C>A (p.Ala5149Asp)
c.15443C>A (p.Ala5148Asp)
c.15431C>A (p.Ala5144Asp)
c.15428C>A (p.Ala5143Asp)
c.15422C>A (p.Ala5141Asp)
c.15413C>A (p.Ala5138Asp)
c.15362C>A (p.Ala5121Asp)
c.15359C>A (p.Ala5120Asp)
c.15326C>A (p.Ala5109Asp)
c.15323C>A (p.Ala5108Asp)
c.15290C>A (p.Ala5097Asp)
c.15560C>A (p.Ala5187Asp)
c.15557C>A (p.Ala5186Asp)
c.15545C>A (p.Ala5182Asp)
c.15542C>A (p.Ala5181Asp)
c.15536C>A (p.Ala5179Asp)
c.15527C>A (p.Ala5176Asp)
c.15476C>A (p.Ala5159Asp)
c.15473C>A (p.Ala5158Asp)
c.15440C>A (p.Ala5147Asp)
c.15437C>A (p.Ala5146Asp)
c.15404C>A (p.Ala5135Asp)
c.15539C>A (p.Ala5180Asp)
c.15512C>A (p.Ala5171Asp)
c.15458C>A (p.Ala5153Asp)
c.15425C>A (p.Ala5142Asp)
c.15401C>A (p.Ala5134Asp)
c.15353C>A (p.Ala5118Asp)
c.15302C>A (p.Ala5101Asp)
 gnomAD v4
1g.19078008C>ACA338748147UBR4c.15292G>T (p.Ala5098Ser)
c.2413G>T (p.Ala805Ser)
c.517G>T (p.Ala173Ser)
n.3299G>T
c.15445G>T (p.Ala5149Ser)
c.15442G>T (p.Ala5148Ser)
c.15430G>T (p.Ala5144Ser)
c.15427G>T (p.Ala5143Ser)
c.15421G>T (p.Ala5141Ser)
c.15412G>T (p.Ala5138Ser)
c.15361G>T (p.Ala5121Ser)
c.15358G>T (p.Ala5120Ser)
c.15325G>T (p.Ala5109Ser)
c.15322G>T (p.Ala5108Ser)
c.15289G>T (p.Ala5097Ser)
c.15559G>T (p.Ala5187Ser)
c.15556G>T (p.Ala5186Ser)
c.15544G>T (p.Ala5182Ser)
c.15541G>T (p.Ala5181Ser)
c.15535G>T (p.Ala5179Ser)
c.15526G>T (p.Ala5176Ser)
c.15475G>T (p.Ala5159Ser)
c.15472G>T (p.Ala5158Ser)
c.15439G>T (p.Ala5147Ser)
c.15436G>T (p.Ala5146Ser)
c.15403G>T (p.Ala5135Ser)
c.15538G>T (p.Ala5180Ser)
c.15511G>T (p.Ala5171Ser)
c.15457G>T (p.Ala5153Ser)
c.15424G>T (p.Ala5142Ser)
c.15400G>T (p.Ala5134Ser)
c.15352G>T (p.Ala5118Ser)
c.15301G>T (p.Ala5101Ser)
1g.19078008C>GCA338748148UBR4c.15292G>C (p.Ala5098Pro)
c.2413G>C (p.Ala805Pro)
c.517G>C (p.Ala173Pro)
n.3299G>C
c.15445G>C (p.Ala5149Pro)
c.15442G>C (p.Ala5148Pro)
c.15430G>C (p.Ala5144Pro)
c.15427G>C (p.Ala5143Pro)
c.15421G>C (p.Ala5141Pro)
c.15412G>C (p.Ala5138Pro)
c.15361G>C (p.Ala5121Pro)
c.15358G>C (p.Ala5120Pro)
c.15325G>C (p.Ala5109Pro)
c.15322G>C (p.Ala5108Pro)
c.15289G>C (p.Ala5097Pro)
c.15559G>C (p.Ala5187Pro)
c.15556G>C (p.Ala5186Pro)
c.15544G>C (p.Ala5182Pro)
c.15541G>C (p.Ala5181Pro)
c.15535G>C (p.Ala5179Pro)
c.15526G>C (p.Ala5176Pro)
c.15475G>C (p.Ala5159Pro)
c.15472G>C (p.Ala5158Pro)
c.15439G>C (p.Ala5147Pro)
c.15436G>C (p.Ala5146Pro)
c.15403G>C (p.Ala5135Pro)
c.15538G>C (p.Ala5180Pro)
c.15511G>C (p.Ala5171Pro)
c.15457G>C (p.Ala5153Pro)
c.15424G>C (p.Ala5142Pro)
c.15400G>C (p.Ala5134Pro)
c.15352G>C (p.Ala5118Pro)
c.15301G>C (p.Ala5101Pro)
1g.19078008C>TCA338748149UBR4c.15292G>A (p.Ala5098Thr)
c.2413G>A (p.Ala805Thr)
c.517G>A (p.Ala173Thr)
n.3299G>A
c.15445G>A (p.Ala5149Thr)
c.15442G>A (p.Ala5148Thr)
c.15430G>A (p.Ala5144Thr)
c.15427G>A (p.Ala5143Thr)
c.15421G>A (p.Ala5141Thr)
c.15412G>A (p.Ala5138Thr)
c.15361G>A (p.Ala5121Thr)
c.15358G>A (p.Ala5120Thr)
c.15325G>A (p.Ala5109Thr)
c.15322G>A (p.Ala5108Thr)
c.15289G>A (p.Ala5097Thr)
c.15559G>A (p.Ala5187Thr)
c.15556G>A (p.Ala5186Thr)
c.15544G>A (p.Ala5182Thr)
c.15541G>A (p.Ala5181Thr)
c.15535G>A (p.Ala5179Thr)
c.15526G>A (p.Ala5176Thr)
c.15475G>A (p.Ala5159Thr)
c.15472G>A (p.Ala5158Thr)
c.15439G>A (p.Ala5147Thr)
c.15436G>A (p.Ala5146Thr)
c.15403G>A (p.Ala5135Thr)
c.15538G>A (p.Ala5180Thr)
c.15511G>A (p.Ala5171Thr)
c.15457G>A (p.Ala5153Thr)
c.15424G>A (p.Ala5142Thr)
c.15400G>A (p.Ala5134Thr)
c.15352G>A (p.Ala5118Thr)
c.15301G>A (p.Ala5101Thr)
1g.19078009C>ACA338748150UBR4c.15291G>T (p.Trp5097Cys)
c.2412G>T (p.Trp804Cys)
c.516G>T (p.Trp172Cys)
n.3298G>T
c.15444G>T (p.Trp5148Cys)
c.15441G>T (p.Trp5147Cys)
c.15429G>T (p.Trp5143Cys)
c.15426G>T (p.Trp5142Cys)
c.15420G>T (p.Trp5140Cys)
c.15411G>T (p.Trp5137Cys)
c.15360G>T (p.Trp5120Cys)
c.15357G>T (p.Trp5119Cys)
c.15324G>T (p.Trp5108Cys)
c.15321G>T (p.Trp5107Cys)
c.15288G>T (p.Trp5096Cys)
c.15558G>T (p.Trp5186Cys)
c.15555G>T (p.Trp5185Cys)
c.15543G>T (p.Trp5181Cys)
c.15540G>T (p.Trp5180Cys)
c.15534G>T (p.Trp5178Cys)
c.15525G>T (p.Trp5175Cys)
c.15474G>T (p.Trp5158Cys)
c.15471G>T (p.Trp5157Cys)
c.15438G>T (p.Trp5146Cys)
c.15435G>T (p.Trp5145Cys)
c.15402G>T (p.Trp5134Cys)
c.15537G>T (p.Trp5179Cys)
c.15510G>T (p.Trp5170Cys)
c.15456G>T (p.Trp5152Cys)
c.15423G>T (p.Trp5141Cys)
c.15399G>T (p.Trp5133Cys)
c.15351G>T (p.Trp5117Cys)
c.15300G>T (p.Trp5100Cys)
 dbSNP gnomAD v2
1g.19078009C=CA1156956076UBR4c.15291G= (p.Trp5097=)
c.2412G= (p.Trp804=)
c.516G= (p.Trp172=)
n.3298G=
c.15444G= (p.Trp5148=)
c.15441G= (p.Trp5147=)
c.15429G= (p.Trp5143=)
c.15426G= (p.Trp5142=)
c.15420G= (p.Trp5140=)
c.15411G= (p.Trp5137=)
c.15360G= (p.Trp5120=)
c.15357G= (p.Trp5119=)
c.15324G= (p.Trp5108=)
c.15321G= (p.Trp5107=)
c.15288G= (p.Trp5096=)
c.15558G= (p.Trp5186=)
c.15555G= (p.Trp5185=)
c.15543G= (p.Trp5181=)
c.15540G= (p.Trp5180=)
c.15534G= (p.Trp5178=)
c.15525G= (p.Trp5175=)
c.15474G= (p.Trp5158=)
c.15471G= (p.Trp5157=)
c.15438G= (p.Trp5146=)
c.15435G= (p.Trp5145=)
c.15402G= (p.Trp5134=)
c.15537G= (p.Trp5179=)
c.15510G= (p.Trp5170=)
c.15456G= (p.Trp5152=)
c.15423G= (p.Trp5141=)
c.15399G= (p.Trp5133=)
c.15351G= (p.Trp5117=)
c.15300G= (p.Trp5100=)
1g.19078009C>GCA338748151UBR4c.15291G>C (p.Trp5097Cys)
c.2412G>C (p.Trp804Cys)
c.516G>C (p.Trp172Cys)
n.3298G>C
c.15444G>C (p.Trp5148Cys)
c.15441G>C (p.Trp5147Cys)
c.15429G>C (p.Trp5143Cys)
c.15426G>C (p.Trp5142Cys)
c.15420G>C (p.Trp5140Cys)
c.15411G>C (p.Trp5137Cys)
c.15360G>C (p.Trp5120Cys)
c.15357G>C (p.Trp5119Cys)
c.15324G>C (p.Trp5108Cys)
c.15321G>C (p.Trp5107Cys)
c.15288G>C (p.Trp5096Cys)
c.15558G>C (p.Trp5186Cys)
c.15555G>C (p.Trp5185Cys)
c.15543G>C (p.Trp5181Cys)
c.15540G>C (p.Trp5180Cys)
c.15534G>C (p.Trp5178Cys)
c.15525G>C (p.Trp5175Cys)
c.15474G>C (p.Trp5158Cys)
c.15471G>C (p.Trp5157Cys)
c.15438G>C (p.Trp5146Cys)
c.15435G>C (p.Trp5145Cys)
c.15402G>C (p.Trp5134Cys)
c.15537G>C (p.Trp5179Cys)
c.15510G>C (p.Trp5170Cys)
c.15456G>C (p.Trp5152Cys)
c.15423G>C (p.Trp5141Cys)
c.15399G>C (p.Trp5133Cys)
c.15351G>C (p.Trp5117Cys)
c.15300G>C (p.Trp5100Cys)
1g.19078009C>TCA338748152UBR4c.15291G>A (p.Trp5097Ter)
c.2412G>A (p.Trp804Ter)
c.516G>A (p.Trp172Ter)
n.3298G>A
c.15444G>A (p.Trp5148Ter)
c.15441G>A (p.Trp5147Ter)
c.15429G>A (p.Trp5143Ter)
c.15426G>A (p.Trp5142Ter)
c.15420G>A (p.Trp5140Ter)
c.15411G>A (p.Trp5137Ter)
c.15360G>A (p.Trp5120Ter)
c.15357G>A (p.Trp5119Ter)
c.15324G>A (p.Trp5108Ter)
c.15321G>A (p.Trp5107Ter)
c.15288G>A (p.Trp5096Ter)
c.15558G>A (p.Trp5186Ter)
c.15555G>A (p.Trp5185Ter)
c.15543G>A (p.Trp5181Ter)
c.15540G>A (p.Trp5180Ter)
c.15534G>A (p.Trp5178Ter)
c.15525G>A (p.Trp5175Ter)
c.15474G>A (p.Trp5158Ter)
c.15471G>A (p.Trp5157Ter)
c.15438G>A (p.Trp5146Ter)
c.15435G>A (p.Trp5145Ter)
c.15402G>A (p.Trp5134Ter)
c.15537G>A (p.Trp5179Ter)
c.15510G>A (p.Trp5170Ter)
c.15456G>A (p.Trp5152Ter)
c.15423G>A (p.Trp5141Ter)
c.15399G>A (p.Trp5133Ter)
c.15351G>A (p.Trp5117Ter)
c.15300G>A (p.Trp5100Ter)
1g.19078010C>ACA338748153UBR4c.15290G>T (p.Trp5097Leu)
c.2411G>T (p.Trp804Leu)
c.515G>T (p.Trp172Leu)
n.3297G>T
c.15443G>T (p.Trp5148Leu)
c.15440G>T (p.Trp5147Leu)
c.15428G>T (p.Trp5143Leu)
c.15425G>T (p.Trp5142Leu)
c.15419G>T (p.Trp5140Leu)
c.15410G>T (p.Trp5137Leu)
c.15359G>T (p.Trp5120Leu)
c.15356G>T (p.Trp5119Leu)
c.15323G>T (p.Trp5108Leu)
c.15320G>T (p.Trp5107Leu)
c.15287G>T (p.Trp5096Leu)
c.15557G>T (p.Trp5186Leu)
c.15554G>T (p.Trp5185Leu)
c.15542G>T (p.Trp5181Leu)
c.15539G>T (p.Trp5180Leu)
c.15533G>T (p.Trp5178Leu)
c.15524G>T (p.Trp5175Leu)
c.15473G>T (p.Trp5158Leu)
c.15470G>T (p.Trp5157Leu)
c.15437G>T (p.Trp5146Leu)
c.15434G>T (p.Trp5145Leu)
c.15401G>T (p.Trp5134Leu)
c.15536G>T (p.Trp5179Leu)
c.15509G>T (p.Trp5170Leu)
c.15455G>T (p.Trp5152Leu)
c.15422G>T (p.Trp5141Leu)
c.15398G>T (p.Trp5133Leu)
c.15350G>T (p.Trp5117Leu)
c.15299G>T (p.Trp5100Leu)
1g.19078010C>GCA338748154UBR4c.15290G>C (p.Trp5097Ser)
c.2411G>C (p.Trp804Ser)
c.515G>C (p.Trp172Ser)
n.3297G>C
c.15443G>C (p.Trp5148Ser)
c.15440G>C (p.Trp5147Ser)
c.15428G>C (p.Trp5143Ser)
c.15425G>C (p.Trp5142Ser)
c.15419G>C (p.Trp5140Ser)
c.15410G>C (p.Trp5137Ser)
c.15359G>C (p.Trp5120Ser)
c.15356G>C (p.Trp5119Ser)
c.15323G>C (p.Trp5108Ser)
c.15320G>C (p.Trp5107Ser)
c.15287G>C (p.Trp5096Ser)
c.15557G>C (p.Trp5186Ser)
c.15554G>C (p.Trp5185Ser)
c.15542G>C (p.Trp5181Ser)
c.15539G>C (p.Trp5180Ser)
c.15533G>C (p.Trp5178Ser)
c.15524G>C (p.Trp5175Ser)
c.15473G>C (p.Trp5158Ser)
c.15470G>C (p.Trp5157Ser)
c.15437G>C (p.Trp5146Ser)
c.15434G>C (p.Trp5145Ser)
c.15401G>C (p.Trp5134Ser)
c.15536G>C (p.Trp5179Ser)
c.15509G>C (p.Trp5170Ser)
c.15455G>C (p.Trp5152Ser)
c.15422G>C (p.Trp5141Ser)
c.15398G>C (p.Trp5133Ser)
c.15350G>C (p.Trp5117Ser)
c.15299G>C (p.Trp5100Ser)
1g.19078010C>TCA338748155UBR4c.15290G>A (p.Trp5097Ter)
c.2411G>A (p.Trp804Ter)
c.515G>A (p.Trp172Ter)
n.3297G>A
c.15443G>A (p.Trp5148Ter)
c.15440G>A (p.Trp5147Ter)
c.15428G>A (p.Trp5143Ter)
c.15425G>A (p.Trp5142Ter)
c.15419G>A (p.Trp5140Ter)
c.15410G>A (p.Trp5137Ter)
c.15359G>A (p.Trp5120Ter)
c.15356G>A (p.Trp5119Ter)
c.15323G>A (p.Trp5108Ter)
c.15320G>A (p.Trp5107Ter)
c.15287G>A (p.Trp5096Ter)
c.15557G>A (p.Trp5186Ter)
c.15554G>A (p.Trp5185Ter)
c.15542G>A (p.Trp5181Ter)
c.15539G>A (p.Trp5180Ter)
c.15533G>A (p.Trp5178Ter)
c.15524G>A (p.Trp5175Ter)
c.15473G>A (p.Trp5158Ter)
c.15470G>A (p.Trp5157Ter)
c.15437G>A (p.Trp5146Ter)
c.15434G>A (p.Trp5145Ter)
c.15401G>A (p.Trp5134Ter)
c.15536G>A (p.Trp5179Ter)
c.15509G>A (p.Trp5170Ter)
c.15455G>A (p.Trp5152Ter)
c.15422G>A (p.Trp5141Ter)
c.15398G>A (p.Trp5133Ter)
c.15350G>A (p.Trp5117Ter)
c.15299G>A (p.Trp5100Ter)
1g.19078011A>CCA338748156UBR4c.15289T>G (p.Trp5097Gly)
c.2410T>G (p.Trp804Gly)
c.514T>G (p.Trp172Gly)
n.3296T>G
c.15442T>G (p.Trp5148Gly)
c.15439T>G (p.Trp5147Gly)
c.15427T>G (p.Trp5143Gly)
c.15424T>G (p.Trp5142Gly)
c.15418T>G (p.Trp5140Gly)
c.15409T>G (p.Trp5137Gly)
c.15358T>G (p.Trp5120Gly)
c.15355T>G (p.Trp5119Gly)
c.15322T>G (p.Trp5108Gly)
c.15319T>G (p.Trp5107Gly)
c.15286T>G (p.Trp5096Gly)
c.15556T>G (p.Trp5186Gly)
c.15553T>G (p.Trp5185Gly)
c.15541T>G (p.Trp5181Gly)
c.15538T>G (p.Trp5180Gly)
c.15532T>G (p.Trp5178Gly)
c.15523T>G (p.Trp5175Gly)
c.15472T>G (p.Trp5158Gly)
c.15469T>G (p.Trp5157Gly)
c.15436T>G (p.Trp5146Gly)
c.15433T>G (p.Trp5145Gly)
c.15400T>G (p.Trp5134Gly)
c.15535T>G (p.Trp5179Gly)
c.15508T>G (p.Trp5170Gly)
c.15454T>G (p.Trp5152Gly)
c.15421T>G (p.Trp5141Gly)
c.15397T>G (p.Trp5133Gly)
c.15349T>G (p.Trp5117Gly)
c.15298T>G (p.Trp5100Gly)
 gnomAD v4
1g.19078011A>GCA338748157UBR4c.15289T>C (p.Trp5097Arg)
c.2410T>C (p.Trp804Arg)
c.514T>C (p.Trp172Arg)
n.3296T>C
c.15442T>C (p.Trp5148Arg)
c.15439T>C (p.Trp5147Arg)
c.15427T>C (p.Trp5143Arg)
c.15424T>C (p.Trp5142Arg)
c.15418T>C (p.Trp5140Arg)
c.15409T>C (p.Trp5137Arg)
c.15358T>C (p.Trp5120Arg)
c.15355T>C (p.Trp5119Arg)
c.15322T>C (p.Trp5108Arg)
c.15319T>C (p.Trp5107Arg)
c.15286T>C (p.Trp5096Arg)
c.15556T>C (p.Trp5186Arg)
c.15553T>C (p.Trp5185Arg)
c.15541T>C (p.Trp5181Arg)
c.15538T>C (p.Trp5180Arg)
c.15532T>C (p.Trp5178Arg)
c.15523T>C (p.Trp5175Arg)
c.15472T>C (p.Trp5158Arg)
c.15469T>C (p.Trp5157Arg)
c.15436T>C (p.Trp5146Arg)
c.15433T>C (p.Trp5145Arg)
c.15400T>C (p.Trp5134Arg)
c.15535T>C (p.Trp5179Arg)
c.15508T>C (p.Trp5170Arg)
c.15454T>C (p.Trp5152Arg)
c.15421T>C (p.Trp5141Arg)
c.15397T>C (p.Trp5133Arg)
c.15349T>C (p.Trp5117Arg)
c.15298T>C (p.Trp5100Arg)
1g.19078011A>TCA338748158UBR4c.15289T>A (p.Trp5097Arg)
c.2410T>A (p.Trp804Arg)
c.514T>A (p.Trp172Arg)
n.3296T>A
c.15442T>A (p.Trp5148Arg)
c.15439T>A (p.Trp5147Arg)
c.15427T>A (p.Trp5143Arg)
c.15424T>A (p.Trp5142Arg)
c.15418T>A (p.Trp5140Arg)
c.15409T>A (p.Trp5137Arg)
c.15358T>A (p.Trp5120Arg)
c.15355T>A (p.Trp5119Arg)
c.15322T>A (p.Trp5108Arg)
c.15319T>A (p.Trp5107Arg)
c.15286T>A (p.Trp5096Arg)
c.15556T>A (p.Trp5186Arg)
c.15553T>A (p.Trp5185Arg)
c.15541T>A (p.Trp5181Arg)
c.15538T>A (p.Trp5180Arg)
c.15532T>A (p.Trp5178Arg)
c.15523T>A (p.Trp5175Arg)
c.15472T>A (p.Trp5158Arg)
c.15469T>A (p.Trp5157Arg)
c.15436T>A (p.Trp5146Arg)
c.15433T>A (p.Trp5145Arg)
c.15400T>A (p.Trp5134Arg)
c.15535T>A (p.Trp5179Arg)
c.15508T>A (p.Trp5170Arg)
c.15454T>A (p.Trp5152Arg)
c.15421T>A (p.Trp5141Arg)
c.15397T>A (p.Trp5133Arg)
c.15349T>A (p.Trp5117Arg)
c.15298T>A (p.Trp5100Arg)
1g.19078012A>CCA338748159UBR4c.15288T>G (p.Phe5096Leu)
c.2409T>G (p.Phe803Leu)
c.513T>G (p.Phe171Leu)
n.3295T>G
c.15441T>G (p.Phe5147Leu)
c.15438T>G (p.Phe5146Leu)
c.15426T>G (p.Phe5142Leu)
c.15423T>G (p.Phe5141Leu)
c.15417T>G (p.Phe5139Leu)
c.15408T>G (p.Phe5136Leu)
c.15357T>G (p.Phe5119Leu)
c.15354T>G (p.Phe5118Leu)
c.15321T>G (p.Phe5107Leu)
c.15318T>G (p.Phe5106Leu)
c.15285T>G (p.Phe5095Leu)
c.15555T>G (p.Phe5185Leu)
c.15552T>G (p.Phe5184Leu)
c.15540T>G (p.Phe5180Leu)
c.15537T>G (p.Phe5179Leu)
c.15531T>G (p.Phe5177Leu)
c.15522T>G (p.Phe5174Leu)
c.15471T>G (p.Phe5157Leu)
c.15468T>G (p.Phe5156Leu)
c.15435T>G (p.Phe5145Leu)
c.15432T>G (p.Phe5144Leu)
c.15399T>G (p.Phe5133Leu)
c.15534T>G (p.Phe5178Leu)
c.15507T>G (p.Phe5169Leu)
c.15453T>G (p.Phe5151Leu)
c.15420T>G (p.Phe5140Leu)
c.15396T>G (p.Phe5132Leu)
c.15348T>G (p.Phe5116Leu)
c.15297T>G (p.Phe5099Leu)
1g.19078012A>GCA416453113UBR4c.15288T>C (p.Phe5096=)
c.2409T>C (p.Phe803=)
c.513T>C (p.Phe171=)
n.3295T>C
c.15441T>C (p.Phe5147=)
c.15438T>C (p.Phe5146=)
c.15426T>C (p.Phe5142=)
c.15423T>C (p.Phe5141=)
c.15417T>C (p.Phe5139=)
c.15408T>C (p.Phe5136=)
c.15357T>C (p.Phe5119=)
c.15354T>C (p.Phe5118=)
c.15321T>C (p.Phe5107=)
c.15318T>C (p.Phe5106=)
c.15285T>C (p.Phe5095=)
c.15555T>C (p.Phe5185=)
c.15552T>C (p.Phe5184=)
c.15540T>C (p.Phe5180=)
c.15537T>C (p.Phe5179=)
c.15531T>C (p.Phe5177=)
c.15522T>C (p.Phe5174=)
c.15471T>C (p.Phe5157=)
c.15468T>C (p.Phe5156=)
c.15435T>C (p.Phe5145=)
c.15432T>C (p.Phe5144=)
c.15399T>C (p.Phe5133=)
c.15534T>C (p.Phe5178=)
c.15507T>C (p.Phe5169=)
c.15453T>C (p.Phe5151=)
c.15420T>C (p.Phe5140=)
c.15396T>C (p.Phe5132=)
c.15348T>C (p.Phe5116=)
c.15297T>C (p.Phe5099=)
 gnomAD v4
1g.19078012A>TCA338748160UBR4c.15288T>A (p.Phe5096Leu)
c.2409T>A (p.Phe803Leu)
c.513T>A (p.Phe171Leu)
n.3295T>A
c.15441T>A (p.Phe5147Leu)
c.15438T>A (p.Phe5146Leu)
c.15426T>A (p.Phe5142Leu)
c.15423T>A (p.Phe5141Leu)
c.15417T>A (p.Phe5139Leu)
c.15408T>A (p.Phe5136Leu)
c.15357T>A (p.Phe5119Leu)
c.15354T>A (p.Phe5118Leu)
c.15321T>A (p.Phe5107Leu)
c.15318T>A (p.Phe5106Leu)
c.15285T>A (p.Phe5095Leu)
c.15555T>A (p.Phe5185Leu)
c.15552T>A (p.Phe5184Leu)
c.15540T>A (p.Phe5180Leu)
c.15537T>A (p.Phe5179Leu)
c.15531T>A (p.Phe5177Leu)
c.15522T>A (p.Phe5174Leu)
c.15471T>A (p.Phe5157Leu)
c.15468T>A (p.Phe5156Leu)
c.15435T>A (p.Phe5145Leu)
c.15432T>A (p.Phe5144Leu)
c.15399T>A (p.Phe5133Leu)
c.15534T>A (p.Phe5178Leu)
c.15507T>A (p.Phe5169Leu)
c.15453T>A (p.Phe5151Leu)
c.15420T>A (p.Phe5140Leu)
c.15396T>A (p.Phe5132Leu)
c.15348T>A (p.Phe5116Leu)
c.15297T>A (p.Phe5099Leu)
1g.19078013A>CCA338748161UBR4c.15287T>G (p.Phe5096Cys)
c.2408T>G (p.Phe803Cys)
c.512T>G (p.Phe171Cys)
n.3294T>G
c.15440T>G (p.Phe5147Cys)
c.15437T>G (p.Phe5146Cys)
c.15425T>G (p.Phe5142Cys)
c.15422T>G (p.Phe5141Cys)
c.15416T>G (p.Phe5139Cys)
c.15407T>G (p.Phe5136Cys)
c.15356T>G (p.Phe5119Cys)
c.15353T>G (p.Phe5118Cys)
c.15320T>G (p.Phe5107Cys)
c.15317T>G (p.Phe5106Cys)
c.15284T>G (p.Phe5095Cys)
c.15554T>G (p.Phe5185Cys)
c.15551T>G (p.Phe5184Cys)
c.15539T>G (p.Phe5180Cys)
c.15536T>G (p.Phe5179Cys)
c.15530T>G (p.Phe5177Cys)
c.15521T>G (p.Phe5174Cys)
c.15470T>G (p.Phe5157Cys)
c.15467T>G (p.Phe5156Cys)
c.15434T>G (p.Phe5145Cys)
c.15431T>G (p.Phe5144Cys)
c.15398T>G (p.Phe5133Cys)
c.15533T>G (p.Phe5178Cys)
c.15506T>G (p.Phe5169Cys)
c.15452T>G (p.Phe5151Cys)
c.15419T>G (p.Phe5140Cys)
c.15395T>G (p.Phe5132Cys)
c.15347T>G (p.Phe5116Cys)
c.15296T>G (p.Phe5099Cys)
1g.19078013A>GCA338748162UBR4c.15287T>C (p.Phe5096Ser)
c.2408T>C (p.Phe803Ser)
c.512T>C (p.Phe171Ser)
n.3294T>C
c.15440T>C (p.Phe5147Ser)
c.15437T>C (p.Phe5146Ser)
c.15425T>C (p.Phe5142Ser)
c.15422T>C (p.Phe5141Ser)
c.15416T>C (p.Phe5139Ser)
c.15407T>C (p.Phe5136Ser)
c.15356T>C (p.Phe5119Ser)
c.15353T>C (p.Phe5118Ser)
c.15320T>C (p.Phe5107Ser)
c.15317T>C (p.Phe5106Ser)
c.15284T>C (p.Phe5095Ser)
c.15554T>C (p.Phe5185Ser)
c.15551T>C (p.Phe5184Ser)
c.15539T>C (p.Phe5180Ser)
c.15536T>C (p.Phe5179Ser)
c.15530T>C (p.Phe5177Ser)
c.15521T>C (p.Phe5174Ser)
c.15470T>C (p.Phe5157Ser)
c.15467T>C (p.Phe5156Ser)
c.15434T>C (p.Phe5145Ser)
c.15431T>C (p.Phe5144Ser)
c.15398T>C (p.Phe5133Ser)
c.15533T>C (p.Phe5178Ser)
c.15506T>C (p.Phe5169Ser)
c.15452T>C (p.Phe5151Ser)
c.15419T>C (p.Phe5140Ser)
c.15395T>C (p.Phe5132Ser)
c.15347T>C (p.Phe5116Ser)
c.15296T>C (p.Phe5099Ser)
1g.19078013A>TCA338748163UBR4c.15287T>A (p.Phe5096Tyr)
c.2408T>A (p.Phe803Tyr)
c.512T>A (p.Phe171Tyr)
n.3294T>A
c.15440T>A (p.Phe5147Tyr)
c.15437T>A (p.Phe5146Tyr)
c.15425T>A (p.Phe5142Tyr)
c.15422T>A (p.Phe5141Tyr)
c.15416T>A (p.Phe5139Tyr)
c.15407T>A (p.Phe5136Tyr)
c.15356T>A (p.Phe5119Tyr)
c.15353T>A (p.Phe5118Tyr)
c.15320T>A (p.Phe5107Tyr)
c.15317T>A (p.Phe5106Tyr)
c.15284T>A (p.Phe5095Tyr)
c.15554T>A (p.Phe5185Tyr)
c.15551T>A (p.Phe5184Tyr)
c.15539T>A (p.Phe5180Tyr)
c.15536T>A (p.Phe5179Tyr)
c.15530T>A (p.Phe5177Tyr)
c.15521T>A (p.Phe5174Tyr)
c.15470T>A (p.Phe5157Tyr)
c.15467T>A (p.Phe5156Tyr)
c.15434T>A (p.Phe5145Tyr)
c.15431T>A (p.Phe5144Tyr)
c.15398T>A (p.Phe5133Tyr)
c.15533T>A (p.Phe5178Tyr)
c.15506T>A (p.Phe5169Tyr)
c.15452T>A (p.Phe5151Tyr)
c.15419T>A (p.Phe5140Tyr)
c.15395T>A (p.Phe5132Tyr)
c.15347T>A (p.Phe5116Tyr)
c.15296T>A (p.Phe5099Tyr)
1g.19078014A>CCA338748164UBR4c.15286T>G (p.Phe5096Val)
c.2407T>G (p.Phe803Val)
c.511T>G (p.Phe171Val)
n.3293T>G
c.15439T>G (p.Phe5147Val)
c.15436T>G (p.Phe5146Val)
c.15424T>G (p.Phe5142Val)
c.15421T>G (p.Phe5141Val)
c.15415T>G (p.Phe5139Val)
c.15406T>G (p.Phe5136Val)
c.15355T>G (p.Phe5119Val)
c.15352T>G (p.Phe5118Val)
c.15319T>G (p.Phe5107Val)
c.15316T>G (p.Phe5106Val)
c.15283T>G (p.Phe5095Val)
c.15553T>G (p.Phe5185Val)
c.15550T>G (p.Phe5184Val)
c.15538T>G (p.Phe5180Val)
c.15535T>G (p.Phe5179Val)
c.15529T>G (p.Phe5177Val)
c.15520T>G (p.Phe5174Val)
c.15469T>G (p.Phe5157Val)
c.15466T>G (p.Phe5156Val)
c.15433T>G (p.Phe5145Val)
c.15430T>G (p.Phe5144Val)
c.15397T>G (p.Phe5133Val)
c.15532T>G (p.Phe5178Val)
c.15505T>G (p.Phe5169Val)
c.15451T>G (p.Phe5151Val)
c.15418T>G (p.Phe5140Val)
c.15394T>G (p.Phe5132Val)
c.15346T>G (p.Phe5116Val)
c.15295T>G (p.Phe5099Val)
1g.19078014A>GCA338748165UBR4c.15286T>C (p.Phe5096Leu)
c.2407T>C (p.Phe803Leu)
c.511T>C (p.Phe171Leu)
n.3293T>C
c.15439T>C (p.Phe5147Leu)
c.15436T>C (p.Phe5146Leu)
c.15424T>C (p.Phe5142Leu)
c.15421T>C (p.Phe5141Leu)
c.15415T>C (p.Phe5139Leu)
c.15406T>C (p.Phe5136Leu)
c.15355T>C (p.Phe5119Leu)
c.15352T>C (p.Phe5118Leu)
c.15319T>C (p.Phe5107Leu)
c.15316T>C (p.Phe5106Leu)
c.15283T>C (p.Phe5095Leu)
c.15553T>C (p.Phe5185Leu)
c.15550T>C (p.Phe5184Leu)
c.15538T>C (p.Phe5180Leu)
c.15535T>C (p.Phe5179Leu)
c.15529T>C (p.Phe5177Leu)
c.15520T>C (p.Phe5174Leu)
c.15469T>C (p.Phe5157Leu)
c.15466T>C (p.Phe5156Leu)
c.15433T>C (p.Phe5145Leu)
c.15430T>C (p.Phe5144Leu)
c.15397T>C (p.Phe5133Leu)
c.15532T>C (p.Phe5178Leu)
c.15505T>C (p.Phe5169Leu)
c.15451T>C (p.Phe5151Leu)
c.15418T>C (p.Phe5140Leu)
c.15394T>C (p.Phe5132Leu)
c.15346T>C (p.Phe5116Leu)
c.15295T>C (p.Phe5099Leu)
1g.19078014A>TCA338748166UBR4c.15286T>A (p.Phe5096Ile)
c.2407T>A (p.Phe803Ile)
c.511T>A (p.Phe171Ile)
n.3293T>A
c.15439T>A (p.Phe5147Ile)
c.15436T>A (p.Phe5146Ile)
c.15424T>A (p.Phe5142Ile)
c.15421T>A (p.Phe5141Ile)
c.15415T>A (p.Phe5139Ile)
c.15406T>A (p.Phe5136Ile)
c.15355T>A (p.Phe5119Ile)
c.15352T>A (p.Phe5118Ile)
c.15319T>A (p.Phe5107Ile)
c.15316T>A (p.Phe5106Ile)
c.15283T>A (p.Phe5095Ile)
c.15553T>A (p.Phe5185Ile)
c.15550T>A (p.Phe5184Ile)
c.15538T>A (p.Phe5180Ile)
c.15535T>A (p.Phe5179Ile)
c.15529T>A (p.Phe5177Ile)
c.15520T>A (p.Phe5174Ile)
c.15469T>A (p.Phe5157Ile)
c.15466T>A (p.Phe5156Ile)
c.15433T>A (p.Phe5145Ile)
c.15430T>A (p.Phe5144Ile)
c.15397T>A (p.Phe5133Ile)
c.15532T>A (p.Phe5178Ile)
c.15505T>A (p.Phe5169Ile)
c.15451T>A (p.Phe5151Ile)
c.15418T>A (p.Phe5140Ile)
c.15394T>A (p.Phe5132Ile)
c.15346T>A (p.Phe5116Ile)
c.15295T>A (p.Phe5099Ile)
1g.19078015G>ACA416453125UBR4c.15285C>T (p.Leu5095=)
c.2406C>T (p.Leu802=)
c.510C>T (p.Leu170=)
n.3292C>T
c.15438C>T (p.Leu5146=)
c.15435C>T (p.Leu5145=)
c.15423C>T (p.Leu5141=)
c.15420C>T (p.Leu5140=)
c.15414C>T (p.Leu5138=)
c.15405C>T (p.Leu5135=)
c.15354C>T (p.Leu5118=)
c.15351C>T (p.Leu5117=)
c.15318C>T (p.Leu5106=)
c.15315C>T (p.Leu5105=)
c.15282C>T (p.Leu5094=)
c.15552C>T (p.Leu5184=)
c.15549C>T (p.Leu5183=)
c.15537C>T (p.Leu5179=)
c.15534C>T (p.Leu5178=)
c.15528C>T (p.Leu5176=)
c.15519C>T (p.Leu5173=)
c.15468C>T (p.Leu5156=)
c.15465C>T (p.Leu5155=)
c.15432C>T (p.Leu5144=)
c.15429C>T (p.Leu5143=)
c.15396C>T (p.Leu5132=)
c.15531C>T (p.Leu5177=)
c.15504C>T (p.Leu5168=)
c.15450C>T (p.Leu5150=)
c.15417C>T (p.Leu5139=)
c.15393C>T (p.Leu5131=)
c.15345C>T (p.Leu5115=)
c.15294C>T (p.Leu5098=)
1g.19078015G>CCA416453122UBR4c.15285C>G (p.Leu5095=)
c.2406C>G (p.Leu802=)
c.510C>G (p.Leu170=)
n.3292C>G
c.15438C>G (p.Leu5146=)
c.15435C>G (p.Leu5145=)
c.15423C>G (p.Leu5141=)
c.15420C>G (p.Leu5140=)
c.15414C>G (p.Leu5138=)
c.15405C>G (p.Leu5135=)
c.15354C>G (p.Leu5118=)
c.15351C>G (p.Leu5117=)
c.15318C>G (p.Leu5106=)
c.15315C>G (p.Leu5105=)
c.15282C>G (p.Leu5094=)
c.15552C>G (p.Leu5184=)
c.15549C>G (p.Leu5183=)
c.15537C>G (p.Leu5179=)
c.15534C>G (p.Leu5178=)
c.15528C>G (p.Leu5176=)
c.15519C>G (p.Leu5173=)
c.15468C>G (p.Leu5156=)
c.15465C>G (p.Leu5155=)
c.15432C>G (p.Leu5144=)
c.15429C>G (p.Leu5143=)
c.15396C>G (p.Leu5132=)
c.15531C>G (p.Leu5177=)
c.15504C>G (p.Leu5168=)
c.15450C>G (p.Leu5150=)
c.15417C>G (p.Leu5139=)
c.15393C>G (p.Leu5131=)
c.15345C>G (p.Leu5115=)
c.15294C>G (p.Leu5098=)
1g.19078015G>TCA416453124UBR4c.15285C>A (p.Leu5095=)
c.2406C>A (p.Leu802=)
c.510C>A (p.Leu170=)
n.3292C>A
c.15438C>A (p.Leu5146=)
c.15435C>A (p.Leu5145=)
c.15423C>A (p.Leu5141=)
c.15420C>A (p.Leu5140=)
c.15414C>A (p.Leu5138=)
c.15405C>A (p.Leu5135=)
c.15354C>A (p.Leu5118=)
c.15351C>A (p.Leu5117=)
c.15318C>A (p.Leu5106=)
c.15315C>A (p.Leu5105=)
c.15282C>A (p.Leu5094=)
c.15552C>A (p.Leu5184=)
c.15549C>A (p.Leu5183=)
c.15537C>A (p.Leu5179=)
c.15534C>A (p.Leu5178=)
c.15528C>A (p.Leu5176=)
c.15519C>A (p.Leu5173=)
c.15468C>A (p.Leu5156=)
c.15465C>A (p.Leu5155=)
c.15432C>A (p.Leu5144=)
c.15429C>A (p.Leu5143=)
c.15396C>A (p.Leu5132=)
c.15531C>A (p.Leu5177=)
c.15504C>A (p.Leu5168=)
c.15450C>A (p.Leu5150=)
c.15417C>A (p.Leu5139=)
c.15393C>A (p.Leu5131=)
c.15345C>A (p.Leu5115=)
c.15294C>A (p.Leu5098=)
 gnomAD v4
1g.19078016delCA2742695864UBR4c.15284del (p.Leu5095ProfsTer?)
c.2405del (p.Leu802ProfsTer?)
c.509del (p.Leu170ProfsTer?)
n.3291del
c.15437del (p.Leu5146ProfsTer?)
c.15434del (p.Leu5145ProfsTer?)
c.15422del (p.Leu5141ProfsTer?)
c.15419del (p.Leu5140ProfsTer?)
c.15413del (p.Leu5138ProfsTer?)
c.15404del (p.Leu5135ProfsTer?)
c.15353del (p.Leu5118ProfsTer?)
c.15350del (p.Leu5117ProfsTer?)
c.15317del (p.Leu5106ProfsTer?)
c.15314del (p.Leu5105ProfsTer?)
c.15281del (p.Leu5094ProfsTer?)
c.15551del (p.Leu5184ProfsTer?)
c.15548del (p.Leu5183ProfsTer?)
c.15536del (p.Leu5179ProfsTer?)
c.15533del (p.Leu5178ProfsTer?)
c.15527del (p.Leu5176ProfsTer?)
c.15518del (p.Leu5173ProfsTer?)
c.15467del (p.Leu5156ProfsTer?)
c.15464del (p.Leu5155ProfsTer?)
c.15431del (p.Leu5144ProfsTer?)
c.15428del (p.Leu5143ProfsTer?)
c.15395del (p.Leu5132ProfsTer?)
c.15530del (p.Leu5177ProfsTer?)
c.15503del (p.Leu5168ProfsTer?)
c.15449del (p.Leu5150ProfsTer?)
c.15416del (p.Leu5139ProfsTer?)
c.15392del (p.Leu5131ProfsTer?)
c.15344del (p.Leu5115ProfsTer?)
c.15293del (p.Leu5098ProfsTer?)
1g.19078016A>CCA338748167UBR4c.15284T>G (p.Leu5095Arg)
c.2405T>G (p.Leu802Arg)
c.509T>G (p.Leu170Arg)
n.3291T>G
c.15437T>G (p.Leu5146Arg)
c.15434T>G (p.Leu5145Arg)
c.15422T>G (p.Leu5141Arg)
c.15419T>G (p.Leu5140Arg)
c.15413T>G (p.Leu5138Arg)
c.15404T>G (p.Leu5135Arg)
c.15353T>G (p.Leu5118Arg)
c.15350T>G (p.Leu5117Arg)
c.15317T>G (p.Leu5106Arg)
c.15314T>G (p.Leu5105Arg)
c.15281T>G (p.Leu5094Arg)
c.15551T>G (p.Leu5184Arg)
c.15548T>G (p.Leu5183Arg)
c.15536T>G (p.Leu5179Arg)
c.15533T>G (p.Leu5178Arg)
c.15527T>G (p.Leu5176Arg)
c.15518T>G (p.Leu5173Arg)
c.15467T>G (p.Leu5156Arg)
c.15464T>G (p.Leu5155Arg)
c.15431T>G (p.Leu5144Arg)
c.15428T>G (p.Leu5143Arg)
c.15395T>G (p.Leu5132Arg)
c.15530T>G (p.Leu5177Arg)
c.15503T>G (p.Leu5168Arg)
c.15449T>G (p.Leu5150Arg)
c.15416T>G (p.Leu5139Arg)
c.15392T>G (p.Leu5131Arg)
c.15344T>G (p.Leu5115Arg)
c.15293T>G (p.Leu5098Arg)
1g.19078016A>GCA338748168UBR4c.15284T>C (p.Leu5095Pro)
c.2405T>C (p.Leu802Pro)
c.509T>C (p.Leu170Pro)
n.3291T>C
c.15437T>C (p.Leu5146Pro)
c.15434T>C (p.Leu5145Pro)
c.15422T>C (p.Leu5141Pro)
c.15419T>C (p.Leu5140Pro)
c.15413T>C (p.Leu5138Pro)
c.15404T>C (p.Leu5135Pro)
c.15353T>C (p.Leu5118Pro)
c.15350T>C (p.Leu5117Pro)
c.15317T>C (p.Leu5106Pro)
c.15314T>C (p.Leu5105Pro)
c.15281T>C (p.Leu5094Pro)
c.15551T>C (p.Leu5184Pro)
c.15548T>C (p.Leu5183Pro)
c.15536T>C (p.Leu5179Pro)
c.15533T>C (p.Leu5178Pro)
c.15527T>C (p.Leu5176Pro)
c.15518T>C (p.Leu5173Pro)
c.15467T>C (p.Leu5156Pro)
c.15464T>C (p.Leu5155Pro)
c.15431T>C (p.Leu5144Pro)
c.15428T>C (p.Leu5143Pro)
c.15395T>C (p.Leu5132Pro)
c.15530T>C (p.Leu5177Pro)
c.15503T>C (p.Leu5168Pro)
c.15449T>C (p.Leu5150Pro)
c.15416T>C (p.Leu5139Pro)
c.15392T>C (p.Leu5131Pro)
c.15344T>C (p.Leu5115Pro)
c.15293T>C (p.Leu5098Pro)
1g.19078016A>TCA338748169UBR4c.15284T>A (p.Leu5095His)
c.2405T>A (p.Leu802His)
c.509T>A (p.Leu170His)
n.3291T>A
c.15437T>A (p.Leu5146His)
c.15434T>A (p.Leu5145His)
c.15422T>A (p.Leu5141His)
c.15419T>A (p.Leu5140His)
c.15413T>A (p.Leu5138His)
c.15404T>A (p.Leu5135His)
c.15353T>A (p.Leu5118His)
c.15350T>A (p.Leu5117His)
c.15317T>A (p.Leu5106His)
c.15314T>A (p.Leu5105His)
c.15281T>A (p.Leu5094His)
c.15551T>A (p.Leu5184His)
c.15548T>A (p.Leu5183His)
c.15536T>A (p.Leu5179His)
c.15533T>A (p.Leu5178His)
c.15527T>A (p.Leu5176His)
c.15518T>A (p.Leu5173His)
c.15467T>A (p.Leu5156His)
c.15464T>A (p.Leu5155His)
c.15431T>A (p.Leu5144His)
c.15428T>A (p.Leu5143His)
c.15395T>A (p.Leu5132His)
c.15530T>A (p.Leu5177His)
c.15503T>A (p.Leu5168His)
c.15449T>A (p.Leu5150His)
c.15416T>A (p.Leu5139His)
c.15392T>A (p.Leu5131His)
c.15344T>A (p.Leu5115His)
c.15293T>A (p.Leu5098His)
1g.19078017G>ACA338748170UBR4c.15283C>T (p.Leu5095Phe)
c.2404C>T (p.Leu802Phe)
c.508C>T (p.Leu170Phe)
n.3290C>T
c.15436C>T (p.Leu5146Phe)
c.15433C>T (p.Leu5145Phe)
c.15421C>T (p.Leu5141Phe)
c.15418C>T (p.Leu5140Phe)
c.15412C>T (p.Leu5138Phe)
c.15403C>T (p.Leu5135Phe)
c.15352C>T (p.Leu5118Phe)
c.15349C>T (p.Leu5117Phe)
c.15316C>T (p.Leu5106Phe)
c.15313C>T (p.Leu5105Phe)
c.15280C>T (p.Leu5094Phe)
c.15550C>T (p.Leu5184Phe)
c.15547C>T (p.Leu5183Phe)
c.15535C>T (p.Leu5179Phe)
c.15532C>T (p.Leu5178Phe)
c.15526C>T (p.Leu5176Phe)
c.15517C>T (p.Leu5173Phe)
c.15466C>T (p.Leu5156Phe)
c.15463C>T (p.Leu5155Phe)
c.15430C>T (p.Leu5144Phe)
c.15427C>T (p.Leu5143Phe)
c.15394C>T (p.Leu5132Phe)
c.15529C>T (p.Leu5177Phe)
c.15502C>T (p.Leu5168Phe)
c.15448C>T (p.Leu5150Phe)
c.15415C>T (p.Leu5139Phe)
c.15391C>T (p.Leu5131Phe)
c.15343C>T (p.Leu5115Phe)
c.15292C>T (p.Leu5098Phe)
1g.19078017G>CCA338748172UBR4c.15283C>G (p.Leu5095Val)
c.2404C>G (p.Leu802Val)
c.508C>G (p.Leu170Val)
n.3290C>G
c.15436C>G (p.Leu5146Val)
c.15433C>G (p.Leu5145Val)
c.15421C>G (p.Leu5141Val)
c.15418C>G (p.Leu5140Val)
c.15412C>G (p.Leu5138Val)
c.15403C>G (p.Leu5135Val)
c.15352C>G (p.Leu5118Val)
c.15349C>G (p.Leu5117Val)
c.15316C>G (p.Leu5106Val)
c.15313C>G (p.Leu5105Val)
c.15280C>G (p.Leu5094Val)
c.15550C>G (p.Leu5184Val)
c.15547C>G (p.Leu5183Val)
c.15535C>G (p.Leu5179Val)
c.15532C>G (p.Leu5178Val)
c.15526C>G (p.Leu5176Val)
c.15517C>G (p.Leu5173Val)
c.15466C>G (p.Leu5156Val)
c.15463C>G (p.Leu5155Val)
c.15430C>G (p.Leu5144Val)
c.15427C>G (p.Leu5143Val)
c.15394C>G (p.Leu5132Val)
c.15529C>G (p.Leu5177Val)
c.15502C>G (p.Leu5168Val)
c.15448C>G (p.Leu5150Val)
c.15415C>G (p.Leu5139Val)
c.15391C>G (p.Leu5131Val)
c.15343C>G (p.Leu5115Val)
c.15292C>G (p.Leu5098Val)
1g.19078017G>TCA338748174UBR4c.15283C>A (p.Leu5095Ile)
c.2404C>A (p.Leu802Ile)
c.508C>A (p.Leu170Ile)
n.3290C>A
c.15436C>A (p.Leu5146Ile)
c.15433C>A (p.Leu5145Ile)
c.15421C>A (p.Leu5141Ile)
c.15418C>A (p.Leu5140Ile)
c.15412C>A (p.Leu5138Ile)
c.15403C>A (p.Leu5135Ile)
c.15352C>A (p.Leu5118Ile)
c.15349C>A (p.Leu5117Ile)
c.15316C>A (p.Leu5106Ile)
c.15313C>A (p.Leu5105Ile)
c.15280C>A (p.Leu5094Ile)
c.15550C>A (p.Leu5184Ile)
c.15547C>A (p.Leu5183Ile)
c.15535C>A (p.Leu5179Ile)
c.15532C>A (p.Leu5178Ile)
c.15526C>A (p.Leu5176Ile)
c.15517C>A (p.Leu5173Ile)
c.15466C>A (p.Leu5156Ile)
c.15463C>A (p.Leu5155Ile)
c.15430C>A (p.Leu5144Ile)
c.15427C>A (p.Leu5143Ile)
c.15394C>A (p.Leu5132Ile)
c.15529C>A (p.Leu5177Ile)
c.15502C>A (p.Leu5168Ile)
c.15448C>A (p.Leu5150Ile)
c.15415C>A (p.Leu5139Ile)
c.15391C>A (p.Leu5131Ile)
c.15343C>A (p.Leu5115Ile)
c.15292C>A (p.Leu5098Ile)
 gnomAD v4
1g.19078018A>CCA416453132UBR4c.15282T>G (p.Leu5094=)
c.2403T>G (p.Leu801=)
c.507T>G (p.Leu169=)
n.3289T>G
c.15435T>G (p.Leu5145=)
c.15432T>G (p.Leu5144=)
c.15420T>G (p.Leu5140=)
c.15417T>G (p.Leu5139=)
c.15411T>G (p.Leu5137=)
c.15402T>G (p.Leu5134=)
c.15351T>G (p.Leu5117=)
c.15348T>G (p.Leu5116=)
c.15315T>G (p.Leu5105=)
c.15312T>G (p.Leu5104=)
c.15279T>G (p.Leu5093=)
c.15549T>G (p.Leu5183=)
c.15546T>G (p.Leu5182=)
c.15534T>G (p.Leu5178=)
c.15531T>G (p.Leu5177=)
c.15525T>G (p.Leu5175=)
c.15516T>G (p.Leu5172=)
c.15465T>G (p.Leu5155=)
c.15462T>G (p.Leu5154=)
c.15429T>G (p.Leu5143=)
c.15426T>G (p.Leu5142=)
c.15393T>G (p.Leu5131=)
c.15528T>G (p.Leu5176=)
c.15501T>G (p.Leu5167=)
c.15447T>G (p.Leu5149=)
c.15414T>G (p.Leu5138=)
c.15390T>G (p.Leu5130=)
c.15342T>G (p.Leu5114=)
c.15291T>G (p.Leu5097=)
1g.19078018A>GCA416453134UBR4c.15282T>C (p.Leu5094=)
c.2403T>C (p.Leu801=)
c.507T>C (p.Leu169=)
n.3289T>C
c.15435T>C (p.Leu5145=)
c.15432T>C (p.Leu5144=)
c.15420T>C (p.Leu5140=)
c.15417T>C (p.Leu5139=)
c.15411T>C (p.Leu5137=)
c.15402T>C (p.Leu5134=)
c.15351T>C (p.Leu5117=)
c.15348T>C (p.Leu5116=)
c.15315T>C (p.Leu5105=)
c.15312T>C (p.Leu5104=)
c.15279T>C (p.Leu5093=)
c.15549T>C (p.Leu5183=)
c.15546T>C (p.Leu5182=)
c.15534T>C (p.Leu5178=)
c.15531T>C (p.Leu5177=)
c.15525T>C (p.Leu5175=)
c.15516T>C (p.Leu5172=)
c.15465T>C (p.Leu5155=)
c.15462T>C (p.Leu5154=)
c.15429T>C (p.Leu5143=)
c.15426T>C (p.Leu5142=)
c.15393T>C (p.Leu5131=)
c.15528T>C (p.Leu5176=)
c.15501T>C (p.Leu5167=)
c.15447T>C (p.Leu5149=)
c.15414T>C (p.Leu5138=)
c.15390T>C (p.Leu5130=)
c.15342T>C (p.Leu5114=)
c.15291T>C (p.Leu5097=)
1g.19078018A>TCA416453136UBR4c.15282T>A (p.Leu5094=)
c.2403T>A (p.Leu801=)
c.507T>A (p.Leu169=)
n.3289T>A
c.15435T>A (p.Leu5145=)
c.15432T>A (p.Leu5144=)
c.15420T>A (p.Leu5140=)
c.15417T>A (p.Leu5139=)
c.15411T>A (p.Leu5137=)
c.15402T>A (p.Leu5134=)
c.15351T>A (p.Leu5117=)
c.15348T>A (p.Leu5116=)
c.15315T>A (p.Leu5105=)
c.15312T>A (p.Leu5104=)
c.15279T>A (p.Leu5093=)
c.15549T>A (p.Leu5183=)
c.15546T>A (p.Leu5182=)
c.15534T>A (p.Leu5178=)
c.15531T>A (p.Leu5177=)
c.15525T>A (p.Leu5175=)
c.15516T>A (p.Leu5172=)
c.15465T>A (p.Leu5155=)
c.15462T>A (p.Leu5154=)
c.15429T>A (p.Leu5143=)
c.15426T>A (p.Leu5142=)
c.15393T>A (p.Leu5131=)
c.15528T>A (p.Leu5176=)
c.15501T>A (p.Leu5167=)
c.15447T>A (p.Leu5149=)
c.15414T>A (p.Leu5138=)
c.15390T>A (p.Leu5130=)
c.15342T>A (p.Leu5114=)
c.15291T>A (p.Leu5097=)
1g.19078019A>CCA338748177UBR4c.15281T>G (p.Leu5094Arg)
c.2402T>G (p.Leu801Arg)
c.506T>G (p.Leu169Arg)
n.3288T>G
c.15434T>G (p.Leu5145Arg)
c.15431T>G (p.Leu5144Arg)
c.15419T>G (p.Leu5140Arg)
c.15416T>G (p.Leu5139Arg)
c.15410T>G (p.Leu5137Arg)
c.15401T>G (p.Leu5134Arg)
c.15350T>G (p.Leu5117Arg)
c.15347T>G (p.Leu5116Arg)
c.15314T>G (p.Leu5105Arg)
c.15311T>G (p.Leu5104Arg)
c.15278T>G (p.Leu5093Arg)
c.15548T>G (p.Leu5183Arg)
c.15545T>G (p.Leu5182Arg)
c.15533T>G (p.Leu5178Arg)
c.15530T>G (p.Leu5177Arg)
c.15524T>G (p.Leu5175Arg)
c.15515T>G (p.Leu5172Arg)
c.15464T>G (p.Leu5155Arg)
c.15461T>G (p.Leu5154Arg)
c.15428T>G (p.Leu5143Arg)
c.15425T>G (p.Leu5142Arg)
c.15392T>G (p.Leu5131Arg)
c.15527T>G (p.Leu5176Arg)
c.15500T>G (p.Leu5167Arg)
c.15446T>G (p.Leu5149Arg)
c.15413T>G (p.Leu5138Arg)
c.15389T>G (p.Leu5130Arg)
c.15341T>G (p.Leu5114Arg)
c.15290T>G (p.Leu5097Arg)
1g.19078019A>GCA338748180UBR4c.15281T>C (p.Leu5094Pro)
c.2402T>C (p.Leu801Pro)
c.506T>C (p.Leu169Pro)
n.3288T>C
c.15434T>C (p.Leu5145Pro)
c.15431T>C (p.Leu5144Pro)
c.15419T>C (p.Leu5140Pro)
c.15416T>C (p.Leu5139Pro)
c.15410T>C (p.Leu5137Pro)
c.15401T>C (p.Leu5134Pro)
c.15350T>C (p.Leu5117Pro)
c.15347T>C (p.Leu5116Pro)
c.15314T>C (p.Leu5105Pro)
c.15311T>C (p.Leu5104Pro)
c.15278T>C (p.Leu5093Pro)
c.15548T>C (p.Leu5183Pro)
c.15545T>C (p.Leu5182Pro)
c.15533T>C (p.Leu5178Pro)
c.15530T>C (p.Leu5177Pro)
c.15524T>C (p.Leu5175Pro)
c.15515T>C (p.Leu5172Pro)
c.15464T>C (p.Leu5155Pro)
c.15461T>C (p.Leu5154Pro)
c.15428T>C (p.Leu5143Pro)
c.15425T>C (p.Leu5142Pro)
c.15392T>C (p.Leu5131Pro)
c.15527T>C (p.Leu5176Pro)
c.15500T>C (p.Leu5167Pro)
c.15446T>C (p.Leu5149Pro)
c.15413T>C (p.Leu5138Pro)
c.15389T>C (p.Leu5130Pro)
c.15341T>C (p.Leu5114Pro)
c.15290T>C (p.Leu5097Pro)
1g.19078019A>TCA338748176UBR4c.15281T>A (p.Leu5094His)
c.2402T>A (p.Leu801His)
c.506T>A (p.Leu169His)
n.3288T>A
c.15434T>A (p.Leu5145His)
c.15431T>A (p.Leu5144His)
c.15419T>A (p.Leu5140His)
c.15416T>A (p.Leu5139His)
c.15410T>A (p.Leu5137His)
c.15401T>A (p.Leu5134His)
c.15350T>A (p.Leu5117His)
c.15347T>A (p.Leu5116His)
c.15314T>A (p.Leu5105His)
c.15311T>A (p.Leu5104His)
c.15278T>A (p.Leu5093His)
c.15548T>A (p.Leu5183His)
c.15545T>A (p.Leu5182His)
c.15533T>A (p.Leu5178His)
c.15530T>A (p.Leu5177His)
c.15524T>A (p.Leu5175His)
c.15515T>A (p.Leu5172His)
c.15464T>A (p.Leu5155His)
c.15461T>A (p.Leu5154His)
c.15428T>A (p.Leu5143His)
c.15425T>A (p.Leu5142His)
c.15392T>A (p.Leu5131His)
c.15527T>A (p.Leu5176His)
c.15500T>A (p.Leu5167His)
c.15446T>A (p.Leu5149His)
c.15413T>A (p.Leu5138His)
c.15389T>A (p.Leu5130His)
c.15341T>A (p.Leu5114His)
c.15290T>A (p.Leu5097His)
1g.19078020G>ACA647918UBR4c.15280C>T (p.Leu5094Phe)
c.2401C>T (p.Leu801Phe)
c.505C>T (p.Leu169Phe)
n.3287C>T
c.15433C>T (p.Leu5145Phe)
c.15430C>T (p.Leu5144Phe)
c.15418C>T (p.Leu5140Phe)
c.15415C>T (p.Leu5139Phe)
c.15409C>T (p.Leu5137Phe)
c.15400C>T (p.Leu5134Phe)
c.15349C>T (p.Leu5117Phe)
c.15346C>T (p.Leu5116Phe)
c.15313C>T (p.Leu5105Phe)
c.15310C>T (p.Leu5104Phe)
c.15277C>T (p.Leu5093Phe)
c.15547C>T (p.Leu5183Phe)
c.15544C>T (p.Leu5182Phe)
c.15532C>T (p.Leu5178Phe)
c.15529C>T (p.Leu5177Phe)
c.15523C>T (p.Leu5175Phe)
c.15514C>T (p.Leu5172Phe)
c.15463C>T (p.Leu5155Phe)
c.15460C>T (p.Leu5154Phe)
c.15427C>T (p.Leu5143Phe)
c.15424C>T (p.Leu5142Phe)
c.15391C>T (p.Leu5131Phe)
c.15526C>T (p.Leu5176Phe)
c.15499C>T (p.Leu5167Phe)
c.15445C>T (p.Leu5149Phe)
c.15412C>T (p.Leu5138Phe)
c.15388C>T (p.Leu5130Phe)
c.15340C>T (p.Leu5114Phe)
c.15289C>T (p.Leu5097Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078020G>CCA338748182UBR4c.15280C>G (p.Leu5094Val)
c.2401C>G (p.Leu801Val)
c.505C>G (p.Leu169Val)
n.3287C>G
c.15433C>G (p.Leu5145Val)
c.15430C>G (p.Leu5144Val)
c.15418C>G (p.Leu5140Val)
c.15415C>G (p.Leu5139Val)
c.15409C>G (p.Leu5137Val)
c.15400C>G (p.Leu5134Val)
c.15349C>G (p.Leu5117Val)
c.15346C>G (p.Leu5116Val)
c.15313C>G (p.Leu5105Val)
c.15310C>G (p.Leu5104Val)
c.15277C>G (p.Leu5093Val)
c.15547C>G (p.Leu5183Val)
c.15544C>G (p.Leu5182Val)
c.15532C>G (p.Leu5178Val)
c.15529C>G (p.Leu5177Val)
c.15523C>G (p.Leu5175Val)
c.15514C>G (p.Leu5172Val)
c.15463C>G (p.Leu5155Val)
c.15460C>G (p.Leu5154Val)
c.15427C>G (p.Leu5143Val)
c.15424C>G (p.Leu5142Val)
c.15391C>G (p.Leu5131Val)
c.15526C>G (p.Leu5176Val)
c.15499C>G (p.Leu5167Val)
c.15445C>G (p.Leu5149Val)
c.15412C>G (p.Leu5138Val)
c.15388C>G (p.Leu5130Val)
c.15340C>G (p.Leu5114Val)
c.15289C>G (p.Leu5097Val)
1g.19078020G=CA1141700727UBR4c.15280C= (p.Leu5094=)
c.2401C= (p.Leu801=)
c.505C= (p.Leu169=)
n.3287C=
c.15433C= (p.Leu5145=)
c.15430C= (p.Leu5144=)
c.15418C= (p.Leu5140=)
c.15415C= (p.Leu5139=)
c.15409C= (p.Leu5137=)
c.15400C= (p.Leu5134=)
c.15349C= (p.Leu5117=)
c.15346C= (p.Leu5116=)
c.15313C= (p.Leu5105=)
c.15310C= (p.Leu5104=)
c.15277C= (p.Leu5093=)
c.15547C= (p.Leu5183=)
c.15544C= (p.Leu5182=)
c.15532C= (p.Leu5178=)
c.15529C= (p.Leu5177=)
c.15523C= (p.Leu5175=)
c.15514C= (p.Leu5172=)
c.15463C= (p.Leu5155=)
c.15460C= (p.Leu5154=)
c.15427C= (p.Leu5143=)
c.15424C= (p.Leu5142=)
c.15391C= (p.Leu5131=)
c.15526C= (p.Leu5176=)
c.15499C= (p.Leu5167=)
c.15445C= (p.Leu5149=)
c.15412C= (p.Leu5138=)
c.15388C= (p.Leu5130=)
c.15340C= (p.Leu5114=)
c.15289C= (p.Leu5097=)
1g.19078020G>TCA338748184UBR4c.15280C>A (p.Leu5094Ile)
c.2401C>A (p.Leu801Ile)
c.505C>A (p.Leu169Ile)
n.3287C>A
c.15433C>A (p.Leu5145Ile)
c.15430C>A (p.Leu5144Ile)
c.15418C>A (p.Leu5140Ile)
c.15415C>A (p.Leu5139Ile)
c.15409C>A (p.Leu5137Ile)
c.15400C>A (p.Leu5134Ile)
c.15349C>A (p.Leu5117Ile)
c.15346C>A (p.Leu5116Ile)
c.15313C>A (p.Leu5105Ile)
c.15310C>A (p.Leu5104Ile)
c.15277C>A (p.Leu5093Ile)
c.15547C>A (p.Leu5183Ile)
c.15544C>A (p.Leu5182Ile)
c.15532C>A (p.Leu5178Ile)
c.15529C>A (p.Leu5177Ile)
c.15523C>A (p.Leu5175Ile)
c.15514C>A (p.Leu5172Ile)
c.15463C>A (p.Leu5155Ile)
c.15460C>A (p.Leu5154Ile)
c.15427C>A (p.Leu5143Ile)
c.15424C>A (p.Leu5142Ile)
c.15391C>A (p.Leu5131Ile)
c.15526C>A (p.Leu5176Ile)
c.15499C>A (p.Leu5167Ile)
c.15445C>A (p.Leu5149Ile)
c.15412C>A (p.Leu5138Ile)
c.15388C>A (p.Leu5130Ile)
c.15340C>A (p.Leu5114Ile)
c.15289C>A (p.Leu5097Ile)
1g.19078021G>ACA647919UBR4c.15279C>T (p.Ser5093=)
c.2400C>T (p.Ser800=)
c.504C>T (p.Ser168=)
n.3286C>T
c.15432C>T (p.Ser5144=)
c.15429C>T (p.Ser5143=)
c.15417C>T (p.Ser5139=)
c.15414C>T (p.Ser5138=)
c.15408C>T (p.Ser5136=)
c.15399C>T (p.Ser5133=)
c.15348C>T (p.Ser5116=)
c.15345C>T (p.Ser5115=)
c.15312C>T (p.Ser5104=)
c.15309C>T (p.Ser5103=)
c.15276C>T (p.Ser5092=)
c.15546C>T (p.Ser5182=)
c.15543C>T (p.Ser5181=)
c.15531C>T (p.Ser5177=)
c.15528C>T (p.Ser5176=)
c.15522C>T (p.Ser5174=)
c.15513C>T (p.Ser5171=)
c.15462C>T (p.Ser5154=)
c.15459C>T (p.Ser5153=)
c.15426C>T (p.Ser5142=)
c.15423C>T (p.Ser5141=)
c.15390C>T (p.Ser5130=)
c.15525C>T (p.Ser5175=)
c.15498C>T (p.Ser5166=)
c.15444C>T (p.Ser5148=)
c.15411C>T (p.Ser5137=)
c.15387C>T (p.Ser5129=)
c.15339C>T (p.Ser5113=)
c.15288C>T (p.Ser5096=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
1g.19078021G>CCA416453145UBR4c.15279C>G (p.Ser5093=)
c.2400C>G (p.Ser800=)
c.504C>G (p.Ser168=)
n.3286C>G
c.15432C>G (p.Ser5144=)
c.15429C>G (p.Ser5143=)
c.15417C>G (p.Ser5139=)
c.15414C>G (p.Ser5138=)
c.15408C>G (p.Ser5136=)
c.15399C>G (p.Ser5133=)
c.15348C>G (p.Ser5116=)
c.15345C>G (p.Ser5115=)
c.15312C>G (p.Ser5104=)
c.15309C>G (p.Ser5103=)
c.15276C>G (p.Ser5092=)
c.15546C>G (p.Ser5182=)
c.15543C>G (p.Ser5181=)
c.15531C>G (p.Ser5177=)
c.15528C>G (p.Ser5176=)
c.15522C>G (p.Ser5174=)
c.15513C>G (p.Ser5171=)
c.15462C>G (p.Ser5154=)
c.15459C>G (p.Ser5153=)
c.15426C>G (p.Ser5142=)
c.15423C>G (p.Ser5141=)
c.15390C>G (p.Ser5130=)
c.15525C>G (p.Ser5175=)
c.15498C>G (p.Ser5166=)
c.15444C>G (p.Ser5148=)
c.15411C>G (p.Ser5137=)
c.15387C>G (p.Ser5129=)
c.15339C>G (p.Ser5113=)
c.15288C>G (p.Ser5096=)
1g.19078021G=CA1156956077UBR4c.15279C= (p.Ser5093=)
c.2400C= (p.Ser800=)
c.504C= (p.Ser168=)
n.3286C=
c.15432C= (p.Ser5144=)
c.15429C= (p.Ser5143=)
c.15417C= (p.Ser5139=)
c.15414C= (p.Ser5138=)
c.15408C= (p.Ser5136=)
c.15399C= (p.Ser5133=)
c.15348C= (p.Ser5116=)
c.15345C= (p.Ser5115=)
c.15312C= (p.Ser5104=)
c.15309C= (p.Ser5103=)
c.15276C= (p.Ser5092=)
c.15546C= (p.Ser5182=)
c.15543C= (p.Ser5181=)
c.15531C= (p.Ser5177=)
c.15528C= (p.Ser5176=)
c.15522C= (p.Ser5174=)
c.15513C= (p.Ser5171=)
c.15462C= (p.Ser5154=)
c.15459C= (p.Ser5153=)
c.15426C= (p.Ser5142=)
c.15423C= (p.Ser5141=)
c.15390C= (p.Ser5130=)
c.15525C= (p.Ser5175=)
c.15498C= (p.Ser5166=)
c.15444C= (p.Ser5148=)
c.15411C= (p.Ser5137=)
c.15387C= (p.Ser5129=)
c.15339C= (p.Ser5113=)
c.15288C= (p.Ser5096=)
1g.19078021G>TCA416453146UBR4c.15279C>A (p.Ser5093=)
c.2400C>A (p.Ser800=)
c.504C>A (p.Ser168=)
n.3286C>A
c.15432C>A (p.Ser5144=)
c.15429C>A (p.Ser5143=)
c.15417C>A (p.Ser5139=)
c.15414C>A (p.Ser5138=)
c.15408C>A (p.Ser5136=)
c.15399C>A (p.Ser5133=)
c.15348C>A (p.Ser5116=)
c.15345C>A (p.Ser5115=)
c.15312C>A (p.Ser5104=)
c.15309C>A (p.Ser5103=)
c.15276C>A (p.Ser5092=)
c.15546C>A (p.Ser5182=)
c.15543C>A (p.Ser5181=)
c.15531C>A (p.Ser5177=)
c.15528C>A (p.Ser5176=)
c.15522C>A (p.Ser5174=)
c.15513C>A (p.Ser5171=)
c.15462C>A (p.Ser5154=)
c.15459C>A (p.Ser5153=)
c.15426C>A (p.Ser5142=)
c.15423C>A (p.Ser5141=)
c.15390C>A (p.Ser5130=)
c.15525C>A (p.Ser5175=)
c.15498C>A (p.Ser5166=)
c.15444C>A (p.Ser5148=)
c.15411C>A (p.Ser5137=)
c.15387C>A (p.Ser5129=)
c.15339C>A (p.Ser5113=)
c.15288C>A (p.Ser5096=)
1g.19078022G>ACA338748192UBR4c.15278C>T (p.Ser5093Phe)
c.2399C>T (p.Ser800Phe)
c.503C>T (p.Ser168Phe)
n.3285C>T
c.15431C>T (p.Ser5144Phe)
c.15428C>T (p.Ser5143Phe)
c.15416C>T (p.Ser5139Phe)
c.15413C>T (p.Ser5138Phe)
c.15407C>T (p.Ser5136Phe)
c.15398C>T (p.Ser5133Phe)
c.15347C>T (p.Ser5116Phe)
c.15344C>T (p.Ser5115Phe)
c.15311C>T (p.Ser5104Phe)
c.15308C>T (p.Ser5103Phe)
c.15275C>T (p.Ser5092Phe)
c.15545C>T (p.Ser5182Phe)
c.15542C>T (p.Ser5181Phe)
c.15530C>T (p.Ser5177Phe)
c.15527C>T (p.Ser5176Phe)
c.15521C>T (p.Ser5174Phe)
c.15512C>T (p.Ser5171Phe)
c.15461C>T (p.Ser5154Phe)
c.15458C>T (p.Ser5153Phe)
c.15425C>T (p.Ser5142Phe)
c.15422C>T (p.Ser5141Phe)
c.15389C>T (p.Ser5130Phe)
c.15524C>T (p.Ser5175Phe)
c.15497C>T (p.Ser5166Phe)
c.15443C>T (p.Ser5148Phe)
c.15410C>T (p.Ser5137Phe)
c.15386C>T (p.Ser5129Phe)
c.15338C>T (p.Ser5113Phe)
c.15287C>T (p.Ser5096Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.19078022G>CCA338748190UBR4c.15278C>G (p.Ser5093Cys)
c.2399C>G (p.Ser800Cys)
c.503C>G (p.Ser168Cys)
n.3285C>G
c.15431C>G (p.Ser5144Cys)
c.15428C>G (p.Ser5143Cys)
c.15416C>G (p.Ser5139Cys)
c.15413C>G (p.Ser5138Cys)
c.15407C>G (p.Ser5136Cys)
c.15398C>G (p.Ser5133Cys)
c.15347C>G (p.Ser5116Cys)
c.15344C>G (p.Ser5115Cys)
c.15311C>G (p.Ser5104Cys)
c.15308C>G (p.Ser5103Cys)
c.15275C>G (p.Ser5092Cys)
c.15545C>G (p.Ser5182Cys)
c.15542C>G (p.Ser5181Cys)
c.15530C>G (p.Ser5177Cys)
c.15527C>G (p.Ser5176Cys)
c.15521C>G (p.Ser5174Cys)
c.15512C>G (p.Ser5171Cys)
c.15461C>G (p.Ser5154Cys)
c.15458C>G (p.Ser5153Cys)
c.15425C>G (p.Ser5142Cys)
c.15422C>G (p.Ser5141Cys)
c.15389C>G (p.Ser5130Cys)
c.15524C>G (p.Ser5175Cys)
c.15497C>G (p.Ser5166Cys)
c.15443C>G (p.Ser5148Cys)
c.15410C>G (p.Ser5137Cys)
c.15386C>G (p.Ser5129Cys)
c.15338C>G (p.Ser5113Cys)
c.15287C>G (p.Ser5096Cys)
1g.19078022G=CA1156956078UBR4c.15278C= (p.Ser5093=)
c.2399C= (p.Ser800=)
c.503C= (p.Ser168=)
n.3285C=
c.15431C= (p.Ser5144=)
c.15428C= (p.Ser5143=)
c.15416C= (p.Ser5139=)
c.15413C= (p.Ser5138=)
c.15407C= (p.Ser5136=)
c.15398C= (p.Ser5133=)
c.15347C= (p.Ser5116=)
c.15344C= (p.Ser5115=)
c.15311C= (p.Ser5104=)
c.15308C= (p.Ser5103=)
c.15275C= (p.Ser5092=)
c.15545C= (p.Ser5182=)
c.15542C= (p.Ser5181=)
c.15530C= (p.Ser5177=)
c.15527C= (p.Ser5176=)
c.15521C= (p.Ser5174=)
c.15512C= (p.Ser5171=)
c.15461C= (p.Ser5154=)
c.15458C= (p.Ser5153=)
c.15425C= (p.Ser5142=)
c.15422C= (p.Ser5141=)
c.15389C= (p.Ser5130=)
c.15524C= (p.Ser5175=)
c.15497C= (p.Ser5166=)
c.15443C= (p.Ser5148=)
c.15410C= (p.Ser5137=)
c.15386C= (p.Ser5129=)
c.15338C= (p.Ser5113=)
c.15287C= (p.Ser5096=)
1g.19078022G>TCA338748188UBR4c.15278C>A (p.Ser5093Tyr)
c.2399C>A (p.Ser800Tyr)
c.503C>A (p.Ser168Tyr)
n.3285C>A
c.15431C>A (p.Ser5144Tyr)
c.15428C>A (p.Ser5143Tyr)
c.15416C>A (p.Ser5139Tyr)
c.15413C>A (p.Ser5138Tyr)
c.15407C>A (p.Ser5136Tyr)
c.15398C>A (p.Ser5133Tyr)
c.15347C>A (p.Ser5116Tyr)
c.15344C>A (p.Ser5115Tyr)
c.15311C>A (p.Ser5104Tyr)
c.15308C>A (p.Ser5103Tyr)
c.15275C>A (p.Ser5092Tyr)
c.15545C>A (p.Ser5182Tyr)
c.15542C>A (p.Ser5181Tyr)
c.15530C>A (p.Ser5177Tyr)
c.15527C>A (p.Ser5176Tyr)
c.15521C>A (p.Ser5174Tyr)
c.15512C>A (p.Ser5171Tyr)
c.15461C>A (p.Ser5154Tyr)
c.15458C>A (p.Ser5153Tyr)
c.15425C>A (p.Ser5142Tyr)
c.15422C>A (p.Ser5141Tyr)
c.15389C>A (p.Ser5130Tyr)
c.15524C>A (p.Ser5175Tyr)
c.15497C>A (p.Ser5166Tyr)
c.15443C>A (p.Ser5148Tyr)
c.15410C>A (p.Ser5137Tyr)
c.15386C>A (p.Ser5129Tyr)
c.15338C>A (p.Ser5113Tyr)
c.15287C>A (p.Ser5096Tyr)
1g.19078023A>CCA338748195UBR4c.15277T>G (p.Ser5093Ala)
c.2398T>G (p.Ser800Ala)
c.502T>G (p.Ser168Ala)
n.3284T>G
c.15430T>G (p.Ser5144Ala)
c.15427T>G (p.Ser5143Ala)
c.15415T>G (p.Ser5139Ala)
c.15412T>G (p.Ser5138Ala)
c.15406T>G (p.Ser5136Ala)
c.15397T>G (p.Ser5133Ala)
c.15346T>G (p.Ser5116Ala)
c.15343T>G (p.Ser5115Ala)
c.15310T>G (p.Ser5104Ala)
c.15307T>G (p.Ser5103Ala)
c.15274T>G (p.Ser5092Ala)
c.15544T>G (p.Ser5182Ala)
c.15541T>G (p.Ser5181Ala)
c.15529T>G (p.Ser5177Ala)
c.15526T>G (p.Ser5176Ala)
c.15520T>G (p.Ser5174Ala)
c.15511T>G (p.Ser5171Ala)
c.15460T>G (p.Ser5154Ala)
c.15457T>G (p.Ser5153Ala)
c.15424T>G (p.Ser5142Ala)
c.15421T>G (p.Ser5141Ala)
c.15388T>G (p.Ser5130Ala)
c.15523T>G (p.Ser5175Ala)
c.15496T>G (p.Ser5166Ala)
c.15442T>G (p.Ser5148Ala)
c.15409T>G (p.Ser5137Ala)
c.15385T>G (p.Ser5129Ala)
c.15337T>G (p.Ser5113Ala)
c.15286T>G (p.Ser5096Ala)
1g.19078023A>GCA338748196UBR4c.15277T>C (p.Ser5093Pro)
c.2398T>C (p.Ser800Pro)
c.502T>C (p.Ser168Pro)
n.3284T>C
c.15430T>C (p.Ser5144Pro)
c.15427T>C (p.Ser5143Pro)
c.15415T>C (p.Ser5139Pro)
c.15412T>C (p.Ser5138Pro)
c.15406T>C (p.Ser5136Pro)
c.15397T>C (p.Ser5133Pro)
c.15346T>C (p.Ser5116Pro)
c.15343T>C (p.Ser5115Pro)
c.15310T>C (p.Ser5104Pro)
c.15307T>C (p.Ser5103Pro)
c.15274T>C (p.Ser5092Pro)
c.15544T>C (p.Ser5182Pro)
c.15541T>C (p.Ser5181Pro)
c.15529T>C (p.Ser5177Pro)
c.15526T>C (p.Ser5176Pro)
c.15520T>C (p.Ser5174Pro)
c.15511T>C (p.Ser5171Pro)
c.15460T>C (p.Ser5154Pro)
c.15457T>C (p.Ser5153Pro)
c.15424T>C (p.Ser5142Pro)
c.15421T>C (p.Ser5141Pro)
c.15388T>C (p.Ser5130Pro)
c.15523T>C (p.Ser5175Pro)
c.15496T>C (p.Ser5166Pro)
c.15442T>C (p.Ser5148Pro)
c.15409T>C (p.Ser5137Pro)
c.15385T>C (p.Ser5129Pro)
c.15337T>C (p.Ser5113Pro)
c.15286T>C (p.Ser5096Pro)
1g.19078023A>TCA338748198UBR4c.15277T>A (p.Ser5093Thr)
c.2398T>A (p.Ser800Thr)
c.502T>A (p.Ser168Thr)
n.3284T>A
c.15430T>A (p.Ser5144Thr)
c.15427T>A (p.Ser5143Thr)
c.15415T>A (p.Ser5139Thr)
c.15412T>A (p.Ser5138Thr)
c.15406T>A (p.Ser5136Thr)
c.15397T>A (p.Ser5133Thr)
c.15346T>A (p.Ser5116Thr)
c.15343T>A (p.Ser5115Thr)
c.15310T>A (p.Ser5104Thr)
c.15307T>A (p.Ser5103Thr)
c.15274T>A (p.Ser5092Thr)
c.15544T>A (p.Ser5182Thr)
c.15541T>A (p.Ser5181Thr)
c.15529T>A (p.Ser5177Thr)
c.15526T>A (p.Ser5176Thr)
c.15520T>A (p.Ser5174Thr)
c.15511T>A (p.Ser5171Thr)
c.15460T>A (p.Ser5154Thr)
c.15457T>A (p.Ser5153Thr)
c.15424T>A (p.Ser5142Thr)
c.15421T>A (p.Ser5141Thr)
c.15388T>A (p.Ser5130Thr)
c.15523T>A (p.Ser5175Thr)
c.15496T>A (p.Ser5166Thr)
c.15442T>A (p.Ser5148Thr)
c.15409T>A (p.Ser5137Thr)
c.15385T>A (p.Ser5129Thr)
c.15337T>A (p.Ser5113Thr)
c.15286T>A (p.Ser5096Thr)
1g.19078024A>CCA416453148UBR4c.15276T>G (p.Ser5092=)
c.2397T>G (p.Ser799=)
c.501T>G (p.Ser167=)
n.3283T>G
c.15429T>G (p.Ser5143=)
c.15426T>G (p.Ser5142=)
c.15414T>G (p.Ser5138=)
c.15411T>G (p.Ser5137=)
c.15405T>G (p.Ser5135=)
c.15396T>G (p.Ser5132=)
c.15345T>G (p.Ser5115=)
c.15342T>G (p.Ser5114=)
c.15309T>G (p.Ser5103=)
c.15306T>G (p.Ser5102=)
c.15273T>G (p.Ser5091=)
c.15543T>G (p.Ser5181=)
c.15540T>G (p.Ser5180=)
c.15528T>G (p.Ser5176=)
c.15525T>G (p.Ser5175=)
c.15519T>G (p.Ser5173=)
c.15510T>G (p.Ser5170=)
c.15459T>G (p.Ser5153=)
c.15456T>G (p.Ser5152=)
c.15423T>G (p.Ser5141=)
c.15420T>G (p.Ser5140=)
c.15387T>G (p.Ser5129=)
c.15522T>G (p.Ser5174=)
c.15495T>G (p.Ser5165=)
c.15441T>G (p.Ser5147=)
c.15408T>G (p.Ser5136=)
c.15384T>G (p.Ser5128=)
c.15336T>G (p.Ser5112=)
c.15285T>G (p.Ser5095=)
1g.19078024A>GCA416453150UBR4c.15276T>C (p.Ser5092=)
c.2397T>C (p.Ser799=)
c.501T>C (p.Ser167=)
n.3283T>C
c.15429T>C (p.Ser5143=)
c.15426T>C (p.Ser5142=)
c.15414T>C (p.Ser5138=)
c.15411T>C (p.Ser5137=)
c.15405T>C (p.Ser5135=)
c.15396T>C (p.Ser5132=)
c.15345T>C (p.Ser5115=)
c.15342T>C (p.Ser5114=)
c.15309T>C (p.Ser5103=)
c.15306T>C (p.Ser5102=)
c.15273T>C (p.Ser5091=)
c.15543T>C (p.Ser5181=)
c.15540T>C (p.Ser5180=)
c.15528T>C (p.Ser5176=)
c.15525T>C (p.Ser5175=)
c.15519T>C (p.Ser5173=)
c.15510T>C (p.Ser5170=)
c.15459T>C (p.Ser5153=)
c.15456T>C (p.Ser5152=)
c.15423T>C (p.Ser5141=)
c.15420T>C (p.Ser5140=)
c.15387T>C (p.Ser5129=)
c.15522T>C (p.Ser5174=)
c.15495T>C (p.Ser5165=)
c.15441T>C (p.Ser5147=)
c.15408T>C (p.Ser5136=)
c.15384T>C (p.Ser5128=)
c.15336T>C (p.Ser5112=)
c.15285T>C (p.Ser5095=)
1g.19078024A>TCA416453149UBR4c.15276T>A (p.Ser5092=)
c.2397T>A (p.Ser799=)
c.501T>A (p.Ser167=)
n.3283T>A
c.15429T>A (p.Ser5143=)
c.15426T>A (p.Ser5142=)
c.15414T>A (p.Ser5138=)
c.15411T>A (p.Ser5137=)
c.15405T>A (p.Ser5135=)
c.15396T>A (p.Ser5132=)
c.15345T>A (p.Ser5115=)
c.15342T>A (p.Ser5114=)
c.15309T>A (p.Ser5103=)
c.15306T>A (p.Ser5102=)
c.15273T>A (p.Ser5091=)
c.15543T>A (p.Ser5181=)
c.15540T>A (p.Ser5180=)
c.15528T>A (p.Ser5176=)
c.15525T>A (p.Ser5175=)
c.15519T>A (p.Ser5173=)
c.15510T>A (p.Ser5170=)
c.15459T>A (p.Ser5153=)
c.15456T>A (p.Ser5152=)
c.15423T>A (p.Ser5141=)
c.15420T>A (p.Ser5140=)
c.15387T>A (p.Ser5129=)
c.15522T>A (p.Ser5174=)
c.15495T>A (p.Ser5165=)
c.15441T>A (p.Ser5147=)
c.15408T>A (p.Ser5136=)
c.15384T>A (p.Ser5128=)
c.15336T>A (p.Ser5112=)
c.15285T>A (p.Ser5095=)
1g.19078025G>ACA647920UBR4c.15275C>T (p.Ser5092Phe)
c.2396C>T (p.Ser799Phe)
c.500C>T (p.Ser167Phe)
n.3282C>T
c.15428C>T (p.Ser5143Phe)
c.15425C>T (p.Ser5142Phe)
c.15413C>T (p.Ser5138Phe)
c.15410C>T (p.Ser5137Phe)
c.15404C>T (p.Ser5135Phe)
c.15395C>T (p.Ser5132Phe)
c.15344C>T (p.Ser5115Phe)
c.15341C>T (p.Ser5114Phe)
c.15308C>T (p.Ser5103Phe)
c.15305C>T (p.Ser5102Phe)
c.15272C>T (p.Ser5091Phe)
c.15542C>T (p.Ser5181Phe)
c.15539C>T (p.Ser5180Phe)
c.15527C>T (p.Ser5176Phe)
c.15524C>T (p.Ser5175Phe)
c.15518C>T (p.Ser5173Phe)
c.15509C>T (p.Ser5170Phe)
c.15458C>T (p.Ser5153Phe)
c.15455C>T (p.Ser5152Phe)
c.15422C>T (p.Ser5141Phe)
c.15419C>T (p.Ser5140Phe)
c.15386C>T (p.Ser5129Phe)
c.15521C>T (p.Ser5174Phe)
c.15494C>T (p.Ser5165Phe)
c.15440C>T (p.Ser5147Phe)
c.15407C>T (p.Ser5136Phe)
c.15383C>T (p.Ser5128Phe)
c.15335C>T (p.Ser5112Phe)
c.15284C>T (p.Ser5095Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
1g.19078025G>CCA338748201UBR4c.15275C>G (p.Ser5092Cys)
c.2396C>G (p.Ser799Cys)
c.500C>G (p.Ser167Cys)
n.3282C>G
c.15428C>G (p.Ser5143Cys)
c.15425C>G (p.Ser5142Cys)
c.15413C>G (p.Ser5138Cys)
c.15410C>G (p.Ser5137Cys)
c.15404C>G (p.Ser5135Cys)
c.15395C>G (p.Ser5132Cys)
c.15344C>G (p.Ser5115Cys)
c.15341C>G (p.Ser5114Cys)
c.15308C>G (p.Ser5103Cys)
c.15305C>G (p.Ser5102Cys)
c.15272C>G (p.Ser5091Cys)
c.15542C>G (p.Ser5181Cys)
c.15539C>G (p.Ser5180Cys)
c.15527C>G (p.Ser5176Cys)
c.15524C>G (p.Ser5175Cys)
c.15518C>G (p.Ser5173Cys)
c.15509C>G (p.Ser5170Cys)
c.15458C>G (p.Ser5153Cys)
c.15455C>G (p.Ser5152Cys)
c.15422C>G (p.Ser5141Cys)
c.15419C>G (p.Ser5140Cys)
c.15386C>G (p.Ser5129Cys)
c.15521C>G (p.Ser5174Cys)
c.15494C>G (p.Ser5165Cys)
c.15440C>G (p.Ser5147Cys)
c.15407C>G (p.Ser5136Cys)
c.15383C>G (p.Ser5128Cys)
c.15335C>G (p.Ser5112Cys)
c.15284C>G (p.Ser5095Cys)
 gnomAD v4
1g.19078025G=CA1156956079UBR4c.15275C= (p.Ser5092=)
c.2396C= (p.Ser799=)
c.500C= (p.Ser167=)
n.3282C=
c.15428C= (p.Ser5143=)
c.15425C= (p.Ser5142=)
c.15413C= (p.Ser5138=)
c.15410C= (p.Ser5137=)
c.15404C= (p.Ser5135=)
c.15395C= (p.Ser5132=)
c.15344C= (p.Ser5115=)
c.15341C= (p.Ser5114=)
c.15308C= (p.Ser5103=)
c.15305C= (p.Ser5102=)
c.15272C= (p.Ser5091=)
c.15542C= (p.Ser5181=)
c.15539C= (p.Ser5180=)
c.15527C= (p.Ser5176=)
c.15524C= (p.Ser5175=)
c.15518C= (p.Ser5173=)
c.15509C= (p.Ser5170=)
c.15458C= (p.Ser5153=)
c.15455C= (p.Ser5152=)
c.15422C= (p.Ser5141=)
c.15419C= (p.Ser5140=)
c.15386C= (p.Ser5129=)
c.15521C= (p.Ser5174=)
c.15494C= (p.Ser5165=)
c.15440C= (p.Ser5147=)
c.15407C= (p.Ser5136=)
c.15383C= (p.Ser5128=)
c.15335C= (p.Ser5112=)
c.15284C= (p.Ser5095=)
1g.19078025G>TCA338748203UBR4c.15275C>A (p.Ser5092Tyr)
c.2396C>A (p.Ser799Tyr)
c.500C>A (p.Ser167Tyr)
n.3282C>A
c.15428C>A (p.Ser5143Tyr)
c.15425C>A (p.Ser5142Tyr)
c.15413C>A (p.Ser5138Tyr)
c.15410C>A (p.Ser5137Tyr)
c.15404C>A (p.Ser5135Tyr)
c.15395C>A (p.Ser5132Tyr)
c.15344C>A (p.Ser5115Tyr)
c.15341C>A (p.Ser5114Tyr)
c.15308C>A (p.Ser5103Tyr)
c.15305C>A (p.Ser5102Tyr)
c.15272C>A (p.Ser5091Tyr)
c.15542C>A (p.Ser5181Tyr)
c.15539C>A (p.Ser5180Tyr)
c.15527C>A (p.Ser5176Tyr)
c.15524C>A (p.Ser5175Tyr)
c.15518C>A (p.Ser5173Tyr)
c.15509C>A (p.Ser5170Tyr)
c.15458C>A (p.Ser5153Tyr)
c.15455C>A (p.Ser5152Tyr)
c.15422C>A (p.Ser5141Tyr)
c.15419C>A (p.Ser5140Tyr)
c.15386C>A (p.Ser5129Tyr)
c.15521C>A (p.Ser5174Tyr)
c.15494C>A (p.Ser5165Tyr)
c.15440C>A (p.Ser5147Tyr)
c.15407C>A (p.Ser5136Tyr)
c.15383C>A (p.Ser5128Tyr)
c.15335C>A (p.Ser5112Tyr)
c.15284C>A (p.Ser5095Tyr)
1g.19078026A>CCA338748205UBR4c.15274T>G (p.Ser5092Ala)
c.2395T>G (p.Ser799Ala)
c.499T>G (p.Ser167Ala)
n.3281T>G
c.15427T>G (p.Ser5143Ala)
c.15424T>G (p.Ser5142Ala)
c.15412T>G (p.Ser5138Ala)
c.15409T>G (p.Ser5137Ala)
c.15403T>G (p.Ser5135Ala)
c.15394T>G (p.Ser5132Ala)
c.15343T>G (p.Ser5115Ala)
c.15340T>G (p.Ser5114Ala)
c.15307T>G (p.Ser5103Ala)
c.15304T>G (p.Ser5102Ala)
c.15271T>G (p.Ser5091Ala)
c.15541T>G (p.Ser5181Ala)
c.15538T>G (p.Ser5180Ala)
c.15526T>G (p.Ser5176Ala)
c.15523T>G (p.Ser5175Ala)
c.15517T>G (p.Ser5173Ala)
c.15508T>G (p.Ser5170Ala)
c.15457T>G (p.Ser5153Ala)
c.15454T>G (p.Ser5152Ala)
c.15421T>G (p.Ser5141Ala)
c.15418T>G (p.Ser5140Ala)
c.15385T>G (p.Ser5129Ala)
c.15520T>G (p.Ser5174Ala)
c.15493T>G (p.Ser5165Ala)
c.15439T>G (p.Ser5147Ala)
c.15406T>G (p.Ser5136Ala)
c.15382T>G (p.Ser5128Ala)
c.15334T>G (p.Ser5112Ala)
c.15283T>G (p.Ser5095Ala)
1g.19078026A>GCA338748209UBR4c.15274T>C (p.Ser5092Pro)
c.2395T>C (p.Ser799Pro)
c.499T>C (p.Ser167Pro)
n.3281T>C
c.15427T>C (p.Ser5143Pro)
c.15424T>C (p.Ser5142Pro)
c.15412T>C (p.Ser5138Pro)
c.15409T>C (p.Ser5137Pro)
c.15403T>C (p.Ser5135Pro)
c.15394T>C (p.Ser5132Pro)
c.15343T>C (p.Ser5115Pro)
c.15340T>C (p.Ser5114Pro)
c.15307T>C (p.Ser5103Pro)
c.15304T>C (p.Ser5102Pro)
c.15271T>C (p.Ser5091Pro)
c.15541T>C (p.Ser5181Pro)
c.15538T>C (p.Ser5180Pro)
c.15526T>C (p.Ser5176Pro)
c.15523T>C (p.Ser5175Pro)
c.15517T>C (p.Ser5173Pro)
c.15508T>C (p.Ser5170Pro)
c.15457T>C (p.Ser5153Pro)
c.15454T>C (p.Ser5152Pro)
c.15421T>C (p.Ser5141Pro)
c.15418T>C (p.Ser5140Pro)
c.15385T>C (p.Ser5129Pro)
c.15520T>C (p.Ser5174Pro)
c.15493T>C (p.Ser5165Pro)
c.15439T>C (p.Ser5147Pro)
c.15406T>C (p.Ser5136Pro)
c.15382T>C (p.Ser5128Pro)
c.15334T>C (p.Ser5112Pro)
c.15283T>C (p.Ser5095Pro)
1g.19078026A>TCA338748207UBR4c.15274T>A (p.Ser5092Thr)
c.2395T>A (p.Ser799Thr)
c.499T>A (p.Ser167Thr)
n.3281T>A
c.15427T>A (p.Ser5143Thr)
c.15424T>A (p.Ser5142Thr)
c.15412T>A (p.Ser5138Thr)
c.15409T>A (p.Ser5137Thr)
c.15403T>A (p.Ser5135Thr)
c.15394T>A (p.Ser5132Thr)
c.15343T>A (p.Ser5115Thr)
c.15340T>A (p.Ser5114Thr)
c.15307T>A (p.Ser5103Thr)
c.15304T>A (p.Ser5102Thr)
c.15271T>A (p.Ser5091Thr)
c.15541T>A (p.Ser5181Thr)
c.15538T>A (p.Ser5180Thr)
c.15526T>A (p.Ser5176Thr)
c.15523T>A (p.Ser5175Thr)
c.15517T>A (p.Ser5173Thr)
c.15508T>A (p.Ser5170Thr)
c.15457T>A (p.Ser5153Thr)
c.15454T>A (p.Ser5152Thr)
c.15421T>A (p.Ser5141Thr)
c.15418T>A (p.Ser5140Thr)
c.15385T>A (p.Ser5129Thr)
c.15520T>A (p.Ser5174Thr)
c.15493T>A (p.Ser5165Thr)
c.15439T>A (p.Ser5147Thr)
c.15406T>A (p.Ser5136Thr)
c.15382T>A (p.Ser5128Thr)
c.15334T>A (p.Ser5112Thr)
c.15283T>A (p.Ser5095Thr)
1g.19078027A=CA1156956080UBR4c.15273T= (p.Arg5091=)
c.2394T= (p.Arg798=)
c.498T= (p.Arg166=)
n.3280T=
c.15426T= (p.Arg5142=)
c.15423T= (p.Arg5141=)
c.15411T= (p.Arg5137=)
c.15408T= (p.Arg5136=)
c.15402T= (p.Arg5134=)
c.15393T= (p.Arg5131=)
c.15342T= (p.Arg5114=)
c.15339T= (p.Arg5113=)
c.15306T= (p.Arg5102=)
c.15303T= (p.Arg5101=)
c.15270T= (p.Arg5090=)
c.15540T= (p.Arg5180=)
c.15537T= (p.Arg5179=)
c.15525T= (p.Arg5175=)
c.15522T= (p.Arg5174=)
c.15516T= (p.Arg5172=)
c.15507T= (p.Arg5169=)
c.15456T= (p.Arg5152=)
c.15453T= (p.Arg5151=)
c.15420T= (p.Arg5140=)
c.15417T= (p.Arg5139=)
c.15384T= (p.Arg5128=)
c.15519T= (p.Arg5173=)
c.15492T= (p.Arg5164=)
c.15438T= (p.Arg5146=)
c.15405T= (p.Arg5135=)
c.15381T= (p.Arg5127=)
c.15333T= (p.Arg5111=)
c.15282T= (p.Arg5094=)
1g.19078027A>CCA416453151UBR4c.15273T>G (p.Arg5091=)
c.2394T>G (p.Arg798=)
c.498T>G (p.Arg166=)
n.3280T>G
c.15426T>G (p.Arg5142=)
c.15423T>G (p.Arg5141=)
c.15411T>G (p.Arg5137=)
c.15408T>G (p.Arg5136=)
c.15402T>G (p.Arg5134=)
c.15393T>G (p.Arg5131=)
c.15342T>G (p.Arg5114=)
c.15339T>G (p.Arg5113=)
c.15306T>G (p.Arg5102=)
c.15303T>G (p.Arg5101=)
c.15270T>G (p.Arg5090=)
c.15540T>G (p.Arg5180=)
c.15537T>G (p.Arg5179=)
c.15525T>G (p.Arg5175=)
c.15522T>G (p.Arg5174=)
c.15516T>G (p.Arg5172=)
c.15507T>G (p.Arg5169=)
c.15456T>G (p.Arg5152=)
c.15453T>G (p.Arg5151=)
c.15420T>G (p.Arg5140=)
c.15417T>G (p.Arg5139=)
c.15384T>G (p.Arg5128=)
c.15519T>G (p.Arg5173=)
c.15492T>G (p.Arg5164=)
c.15438T>G (p.Arg5146=)
c.15405T>G (p.Arg5135=)
c.15381T>G (p.Arg5127=)
c.15333T>G (p.Arg5111=)
c.15282T>G (p.Arg5094=)
1g.19078027A>GCA416453152UBR4c.15273T>C (p.Arg5091=)
c.2394T>C (p.Arg798=)
c.498T>C (p.Arg166=)
n.3280T>C
c.15426T>C (p.Arg5142=)
c.15423T>C (p.Arg5141=)
c.15411T>C (p.Arg5137=)
c.15408T>C (p.Arg5136=)
c.15402T>C (p.Arg5134=)
c.15393T>C (p.Arg5131=)
c.15342T>C (p.Arg5114=)
c.15339T>C (p.Arg5113=)
c.15306T>C (p.Arg5102=)
c.15303T>C (p.Arg5101=)
c.15270T>C (p.Arg5090=)
c.15540T>C (p.Arg5180=)
c.15537T>C (p.Arg5179=)
c.15525T>C (p.Arg5175=)
c.15522T>C (p.Arg5174=)
c.15516T>C (p.Arg5172=)
c.15507T>C (p.Arg5169=)
c.15456T>C (p.Arg5152=)
c.15453T>C (p.Arg5151=)
c.15420T>C (p.Arg5140=)
c.15417T>C (p.Arg5139=)
c.15384T>C (p.Arg5128=)
c.15519T>C (p.Arg5173=)
c.15492T>C (p.Arg5164=)
c.15438T>C (p.Arg5146=)
c.15405T>C (p.Arg5135=)
c.15381T>C (p.Arg5127=)
c.15333T>C (p.Arg5111=)
c.15282T>C (p.Arg5094=)
 dbSNP
1g.19078027A>TCA416453153UBR4c.15273T>A (p.Arg5091=)
c.2394T>A (p.Arg798=)
c.498T>A (p.Arg166=)
n.3280T>A
c.15426T>A (p.Arg5142=)
c.15423T>A (p.Arg5141=)
c.15411T>A (p.Arg5137=)
c.15408T>A (p.Arg5136=)
c.15402T>A (p.Arg5134=)
c.15393T>A (p.Arg5131=)
c.15342T>A (p.Arg5114=)
c.15339T>A (p.Arg5113=)
c.15306T>A (p.Arg5102=)
c.15303T>A (p.Arg5101=)
c.15270T>A (p.Arg5090=)
c.15540T>A (p.Arg5180=)
c.15537T>A (p.Arg5179=)
c.15525T>A (p.Arg5175=)
c.15522T>A (p.Arg5174=)
c.15516T>A (p.Arg5172=)
c.15507T>A (p.Arg5169=)
c.15456T>A (p.Arg5152=)
c.15453T>A (p.Arg5151=)
c.15420T>A (p.Arg5140=)
c.15417T>A (p.Arg5139=)
c.15384T>A (p.Arg5128=)
c.15519T>A (p.Arg5173=)
c.15492T>A (p.Arg5164=)
c.15438T>A (p.Arg5146=)
c.15405T>A (p.Arg5135=)
c.15381T>A (p.Arg5127=)
c.15333T>A (p.Arg5111=)
c.15282T>A (p.Arg5094=)
1g.19078028C>ACA338748211UBR4c.15272G>T (p.Arg5091Leu)
c.2393G>T (p.Arg798Leu)
c.497G>T (p.Arg166Leu)
n.3279G>T
c.15425G>T (p.Arg5142Leu)
c.15422G>T (p.Arg5141Leu)
c.15410G>T (p.Arg5137Leu)
c.15407G>T (p.Arg5136Leu)
c.15401G>T (p.Arg5134Leu)
c.15392G>T (p.Arg5131Leu)
c.15341G>T (p.Arg5114Leu)
c.15338G>T (p.Arg5113Leu)
c.15305G>T (p.Arg5102Leu)
c.15302G>T (p.Arg5101Leu)
c.15269G>T (p.Arg5090Leu)
c.15539G>T (p.Arg5180Leu)
c.15536G>T (p.Arg5179Leu)
c.15524G>T (p.Arg5175Leu)
c.15521G>T (p.Arg5174Leu)
c.15515G>T (p.Arg5172Leu)
c.15506G>T (p.Arg5169Leu)
c.15455G>T (p.Arg5152Leu)
c.15452G>T (p.Arg5151Leu)
c.15419G>T (p.Arg5140Leu)
c.15416G>T (p.Arg5139Leu)
c.15383G>T (p.Arg5128Leu)
c.15518G>T (p.Arg5173Leu)
c.15491G>T (p.Arg5164Leu)
c.15437G>T (p.Arg5146Leu)
c.15404G>T (p.Arg5135Leu)
c.15380G>T (p.Arg5127Leu)
c.15332G>T (p.Arg5111Leu)
c.15281G>T (p.Arg5094Leu)
1g.19078028C=CA1148224194UBR4c.15272G= (p.Arg5091=)
c.2393G= (p.Arg798=)
c.497G= (p.Arg166=)
n.3279G=
c.15425G= (p.Arg5142=)
c.15422G= (p.Arg5141=)
c.15410G= (p.Arg5137=)
c.15407G= (p.Arg5136=)
c.15401G= (p.Arg5134=)
c.15392G= (p.Arg5131=)
c.15341G= (p.Arg5114=)
c.15338G= (p.Arg5113=)
c.15305G= (p.Arg5102=)
c.15302G= (p.Arg5101=)
c.15269G= (p.Arg5090=)
c.15539G= (p.Arg5180=)
c.15536G= (p.Arg5179=)
c.15524G= (p.Arg5175=)
c.15521G= (p.Arg5174=)
c.15515G= (p.Arg5172=)
c.15506G= (p.Arg5169=)
c.15455G= (p.Arg5152=)
c.15452G= (p.Arg5151=)
c.15419G= (p.Arg5140=)
c.15416G= (p.Arg5139=)
c.15383G= (p.Arg5128=)
c.15518G= (p.Arg5173=)
c.15491G= (p.Arg5164=)
c.15437G= (p.Arg5146=)
c.15404G= (p.Arg5135=)
c.15380G= (p.Arg5127=)
c.15332G= (p.Arg5111=)
c.15281G= (p.Arg5094=)
1g.19078028C>GCA338748213UBR4c.15272G>C (p.Arg5091Pro)
c.2393G>C (p.Arg798Pro)
c.497G>C (p.Arg166Pro)
n.3279G>C
c.15425G>C (p.Arg5142Pro)
c.15422G>C (p.Arg5141Pro)
c.15410G>C (p.Arg5137Pro)
c.15407G>C (p.Arg5136Pro)
c.15401G>C (p.Arg5134Pro)
c.15392G>C (p.Arg5131Pro)
c.15341G>C (p.Arg5114Pro)
c.15338G>C (p.Arg5113Pro)
c.15305G>C (p.Arg5102Pro)
c.15302G>C (p.Arg5101Pro)
c.15269G>C (p.Arg5090Pro)
c.15539G>C (p.Arg5180Pro)
c.15536G>C (p.Arg5179Pro)
c.15524G>C (p.Arg5175Pro)
c.15521G>C (p.Arg5174Pro)
c.15515G>C (p.Arg5172Pro)
c.15506G>C (p.Arg5169Pro)
c.15455G>C (p.Arg5152Pro)
c.15452G>C (p.Arg5151Pro)
c.15419G>C (p.Arg5140Pro)
c.15416G>C (p.Arg5139Pro)
c.15383G>C (p.Arg5128Pro)
c.15518G>C (p.Arg5173Pro)
c.15491G>C (p.Arg5164Pro)
c.15437G>C (p.Arg5146Pro)
c.15404G>C (p.Arg5135Pro)
c.15380G>C (p.Arg5127Pro)
c.15332G>C (p.Arg5111Pro)
c.15281G>C (p.Arg5094Pro)
1g.19078028C>TCA233245UBR4c.15272G>A (p.Arg5091His)
c.2393G>A (p.Arg798His)
c.497G>A (p.Arg166His)
n.3279G>A
c.15425G>A (p.Arg5142His)
c.15422G>A (p.Arg5141His)
c.15410G>A (p.Arg5137His)
c.15407G>A (p.Arg5136His)
c.15401G>A (p.Arg5134His)
c.15392G>A (p.Arg5131His)
c.15341G>A (p.Arg5114His)
c.15338G>A (p.Arg5113His)
c.15305G>A (p.Arg5102His)
c.15302G>A (p.Arg5101His)
c.15269G>A (p.Arg5090His)
c.15539G>A (p.Arg5180His)
c.15536G>A (p.Arg5179His)
c.15524G>A (p.Arg5175His)
c.15521G>A (p.Arg5174His)
c.15515G>A (p.Arg5172His)
c.15506G>A (p.Arg5169His)
c.15455G>A (p.Arg5152His)
c.15452G>A (p.Arg5151His)
c.15419G>A (p.Arg5140His)
c.15416G>A (p.Arg5139His)
c.15383G>A (p.Arg5128His)
c.15518G>A (p.Arg5173His)
c.15491G>A (p.Arg5164His)
c.15437G>A (p.Arg5146His)
c.15404G>A (p.Arg5135His)
c.15380G>A (p.Arg5127His)
c.15332G>A (p.Arg5111His)
c.15281G>A (p.Arg5094His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.19078029G>ACA338748215UBR4c.15271C>T (p.Arg5091Cys)
c.2392C>T (p.Arg798Cys)
c.496C>T (p.Arg166Cys)
n.3278C>T
c.15424C>T (p.Arg5142Cys)
c.15421C>T (p.Arg5141Cys)
c.15409C>T (p.Arg5137Cys)
c.15406C>T (p.Arg5136Cys)
c.15400C>T (p.Arg5134Cys)
c.15391C>T (p.Arg5131Cys)
c.15340C>T (p.Arg5114Cys)
c.15337C>T (p.Arg5113Cys)
c.15304C>T (p.Arg5102Cys)
c.15301C>T (p.Arg5101Cys)
c.15268C>T (p.Arg5090Cys)
c.15538C>T (p.Arg5180Cys)
c.15535C>T (p.Arg5179Cys)
c.15523C>T (p.Arg5175Cys)
c.15520C>T (p.Arg5174Cys)
c.15514C>T (p.Arg5172Cys)
c.15505C>T (p.Arg5169Cys)
c.15454C>T (p.Arg5152Cys)
c.15451C>T (p.Arg5151Cys)
c.15418C>T (p.Arg5140Cys)
c.15415C>T (p.Arg5139Cys)
c.15382C>T (p.Arg5128Cys)
c.15517C>T (p.Arg5173Cys)
c.15490C>T (p.Arg5164Cys)
c.15436C>T (p.Arg5146Cys)
c.15403C>T (p.Arg5135Cys)
c.15379C>T (p.Arg5127Cys)
c.15331C>T (p.Arg5111Cys)
c.15280C>T (p.Arg5094Cys)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
1g.19078029G>CCA338748216UBR4c.15271C>G (p.Arg5091Gly)
c.2392C>G (p.Arg798Gly)
c.496C>G (p.Arg166Gly)
n.3278C>G
c.15424C>G (p.Arg5142Gly)
c.15421C>G (p.Arg5141Gly)
c.15409C>G (p.Arg5137Gly)
c.15406C>G (p.Arg5136Gly)
c.15400C>G (p.Arg5134Gly)
c.15391C>G (p.Arg5131Gly)
c.15340C>G (p.Arg5114Gly)
c.15337C>G (p.Arg5113Gly)
c.15304C>G (p.Arg5102Gly)
c.15301C>G (p.Arg5101Gly)
c.15268C>G (p.Arg5090Gly)
c.15538C>G (p.Arg5180Gly)
c.15535C>G (p.Arg5179Gly)
c.15523C>G (p.Arg5175Gly)
c.15520C>G (p.Arg5174Gly)
c.15514C>G (p.Arg5172Gly)
c.15505C>G (p.Arg5169Gly)
c.15454C>G (p.Arg5152Gly)
c.15451C>G (p.Arg5151Gly)
c.15418C>G (p.Arg5140Gly)
c.15415C>G (p.Arg5139Gly)
c.15382C>G (p.Arg5128Gly)
c.15517C>G (p.Arg5173Gly)
c.15490C>G (p.Arg5164Gly)
c.15436C>G (p.Arg5146Gly)
c.15403C>G (p.Arg5135Gly)
c.15379C>G (p.Arg5127Gly)
c.15331C>G (p.Arg5111Gly)
c.15280C>G (p.Arg5094Gly)
1g.19078029G=CA1156956081UBR4c.15271C= (p.Arg5091=)
c.2392C= (p.Arg798=)
c.496C= (p.Arg166=)
n.3278C=
c.15424C= (p.Arg5142=)
c.15421C= (p.Arg5141=)
c.15409C= (p.Arg5137=)
c.15406C= (p.Arg5136=)
c.15400C= (p.Arg5134=)
c.15391C= (p.Arg5131=)
c.15340C= (p.Arg5114=)
c.15337C= (p.Arg5113=)
c.15304C= (p.Arg5102=)
c.15301C= (p.Arg5101=)
c.15268C= (p.Arg5090=)
c.15538C= (p.Arg5180=)
c.15535C= (p.Arg5179=)
c.15523C= (p.Arg5175=)
c.15520C= (p.Arg5174=)
c.15514C= (p.Arg5172=)
c.15505C= (p.Arg5169=)
c.15454C= (p.Arg5152=)
c.15451C= (p.Arg5151=)
c.15418C= (p.Arg5140=)
c.15415C= (p.Arg5139=)
c.15382C= (p.Arg5128=)
c.15517C= (p.Arg5173=)
c.15490C= (p.Arg5164=)
c.15436C= (p.Arg5146=)
c.15403C= (p.Arg5135=)
c.15379C= (p.Arg5127=)
c.15331C= (p.Arg5111=)
c.15280C= (p.Arg5094=)
1g.19078029G>TCA338748218UBR4c.15271C>A (p.Arg5091Ser)
c.2392C>A (p.Arg798Ser)
c.496C>A (p.Arg166Ser)
n.3278C>A
c.15424C>A (p.Arg5142Ser)
c.15421C>A (p.Arg5141Ser)
c.15409C>A (p.Arg5137Ser)
c.15406C>A (p.Arg5136Ser)
c.15400C>A (p.Arg5134Ser)
c.15391C>A (p.Arg5131Ser)
c.15340C>A (p.Arg5114Ser)
c.15337C>A (p.Arg5113Ser)
c.15304C>A (p.Arg5102Ser)
c.15301C>A (p.Arg5101Ser)
c.15268C>A (p.Arg5090Ser)
c.15538C>A (p.Arg5180Ser)
c.15535C>A (p.Arg5179Ser)
c.15523C>A (p.Arg5175Ser)
c.15520C>A (p.Arg5174Ser)
c.15514C>A (p.Arg5172Ser)
c.15505C>A (p.Arg5169Ser)
c.15454C>A (p.Arg5152Ser)
c.15451C>A (p.Arg5151Ser)
c.15418C>A (p.Arg5140Ser)
c.15415C>A (p.Arg5139Ser)
c.15382C>A (p.Arg5128Ser)
c.15517C>A (p.Arg5173Ser)
c.15490C>A (p.Arg5164Ser)
c.15436C>A (p.Arg5146Ser)
c.15403C>A (p.Arg5135Ser)
c.15379C>A (p.Arg5127Ser)
c.15331C>A (p.Arg5111Ser)
c.15280C>A (p.Arg5094Ser)
1g.19078030G>ACA416453154UBR4c.15270C>T (p.Tyr5090=)
c.2391C>T (p.Tyr797=)
c.495C>T (p.Tyr165=)
n.3277C>T
c.15423C>T (p.Tyr5141=)
c.15420C>T (p.Tyr5140=)
c.15408C>T (p.Tyr5136=)
c.15405C>T (p.Tyr5135=)
c.15399C>T (p.Tyr5133=)
c.15390C>T (p.Tyr5130=)
c.15339C>T (p.Tyr5113=)
c.15336C>T (p.Tyr5112=)
c.15303C>T (p.Tyr5101=)
c.15300C>T (p.Tyr5100=)
c.15267C>T (p.Tyr5089=)
c.15537C>T (p.Tyr5179=)
c.15534C>T (p.Tyr5178=)
c.15522C>T (p.Tyr5174=)
c.15519C>T (p.Tyr5173=)
c.15513C>T (p.Tyr5171=)
c.15504C>T (p.Tyr5168=)
c.15453C>T (p.Tyr5151=)
c.15450C>T (p.Tyr5150=)
c.15417C>T (p.Tyr5139=)
c.15414C>T (p.Tyr5138=)
c.15381C>T (p.Tyr5127=)
c.15516C>T (p.Tyr5172=)
c.15489C>T (p.Tyr5163=)
c.15435C>T (p.Tyr5145=)
c.15402C>T (p.Tyr5134=)
c.15378C>T (p.Tyr5126=)
c.15330C>T (p.Tyr5110=)
c.15279C>T (p.Tyr5093=)
1g.19078030G>CCA338748221UBR4c.15270C>G (p.Tyr5090Ter)
c.2391C>G (p.Tyr797Ter)
c.495C>G (p.Tyr165Ter)
n.3277C>G
c.15423C>G (p.Tyr5141Ter)
c.15420C>G (p.Tyr5140Ter)
c.15408C>G (p.Tyr5136Ter)
c.15405C>G (p.Tyr5135Ter)
c.15399C>G (p.Tyr5133Ter)
c.15390C>G (p.Tyr5130Ter)
c.15339C>G (p.Tyr5113Ter)
c.15336C>G (p.Tyr5112Ter)
c.15303C>G (p.Tyr5101Ter)
c.15300C>G (p.Tyr5100Ter)
c.15267C>G (p.Tyr5089Ter)
c.15537C>G (p.Tyr5179Ter)
c.15534C>G (p.Tyr5178Ter)
c.15522C>G (p.Tyr5174Ter)
c.15519C>G (p.Tyr5173Ter)
c.15513C>G (p.Tyr5171Ter)
c.15504C>G (p.Tyr5168Ter)
c.15453C>G (p.Tyr5151Ter)
c.15450C>G (p.Tyr5150Ter)
c.15417C>G (p.Tyr5139Ter)
c.15414C>G (p.Tyr5138Ter)
c.15381C>G (p.Tyr5127Ter)
c.15516C>G (p.Tyr5172Ter)
c.15489C>G (p.Tyr5163Ter)
c.15435C>G (p.Tyr5145Ter)
c.15402C>G (p.Tyr5134Ter)
c.15378C>G (p.Tyr5126Ter)
c.15330C>G (p.Tyr5110Ter)
c.15279C>G (p.Tyr5093Ter)
1g.19078030G>TCA338748222UBR4c.15270C>A (p.Tyr5090Ter)
c.2391C>A (p.Tyr797Ter)
c.495C>A (p.Tyr165Ter)
n.3277C>A
c.15423C>A (p.Tyr5141Ter)
c.15420C>A (p.Tyr5140Ter)
c.15408C>A (p.Tyr5136Ter)
c.15405C>A (p.Tyr5135Ter)
c.15399C>A (p.Tyr5133Ter)
c.15390C>A (p.Tyr5130Ter)
c.15339C>A (p.Tyr5113Ter)
c.15336C>A (p.Tyr5112Ter)
c.15303C>A (p.Tyr5101Ter)
c.15300C>A (p.Tyr5100Ter)
c.15267C>A (p.Tyr5089Ter)
c.15537C>A (p.Tyr5179Ter)
c.15534C>A (p.Tyr5178Ter)
c.15522C>A (p.Tyr5174Ter)
c.15519C>A (p.Tyr5173Ter)
c.15513C>A (p.Tyr5171Ter)
c.15504C>A (p.Tyr5168Ter)
c.15453C>A (p.Tyr5151Ter)
c.15450C>A (p.Tyr5150Ter)
c.15417C>A (p.Tyr5139Ter)
c.15414C>A (p.Tyr5138Ter)
c.15381C>A (p.Tyr5127Ter)
c.15516C>A (p.Tyr5172Ter)
c.15489C>A (p.Tyr5163Ter)
c.15435C>A (p.Tyr5145Ter)
c.15402C>A (p.Tyr5134Ter)
c.15378C>A (p.Tyr5126Ter)
c.15330C>A (p.Tyr5110Ter)
c.15279C>A (p.Tyr5093Ter)
1g.19078031T>ACA338748229UBR4c.15269A>T (p.Tyr5090Phe)
c.2390A>T (p.Tyr797Phe)
c.494A>T (p.Tyr165Phe)
n.3276A>T
c.15422A>T (p.Tyr5141Phe)
c.15419A>T (p.Tyr5140Phe)
c.15407A>T (p.Tyr5136Phe)
c.15404A>T (p.Tyr5135Phe)
c.15398A>T (p.Tyr5133Phe)
c.15389A>T (p.Tyr5130Phe)
c.15338A>T (p.Tyr5113Phe)
c.15335A>T (p.Tyr5112Phe)
c.15302A>T (p.Tyr5101Phe)
c.15299A>T (p.Tyr5100Phe)
c.15266A>T (p.Tyr5089Phe)
c.15536A>T (p.Tyr5179Phe)
c.15533A>T (p.Tyr5178Phe)
c.15521A>T (p.Tyr5174Phe)
c.15518A>T (p.Tyr5173Phe)
c.15512A>T (p.Tyr5171Phe)
c.15503A>T (p.Tyr5168Phe)
c.15452A>T (p.Tyr5151Phe)
c.15449A>T (p.Tyr5150Phe)
c.15416A>T (p.Tyr5139Phe)
c.15413A>T (p.Tyr5138Phe)
c.15380A>T (p.Tyr5127Phe)
c.15515A>T (p.Tyr5172Phe)
c.15488A>T (p.Tyr5163Phe)
c.15434A>T (p.Tyr5145Phe)
c.15401A>T (p.Tyr5134Phe)
c.15377A>T (p.Tyr5126Phe)
c.15329A>T (p.Tyr5110Phe)
c.15278A>T (p.Tyr5093Phe)
1g.19078031T>CCA338748227UBR4c.15269A>G (p.Tyr5090Cys)
c.2390A>G (p.Tyr797Cys)
c.494A>G (p.Tyr165Cys)
n.3276A>G
c.15422A>G (p.Tyr5141Cys)
c.15419A>G (p.Tyr5140Cys)
c.15407A>G (p.Tyr5136Cys)
c.15404A>G (p.Tyr5135Cys)
c.15398A>G (p.Tyr5133Cys)
c.15389A>G (p.Tyr5130Cys)
c.15338A>G (p.Tyr5113Cys)
c.15335A>G (p.Tyr5112Cys)
c.15302A>G (p.Tyr5101Cys)
c.15299A>G (p.Tyr5100Cys)
c.15266A>G (p.Tyr5089Cys)
c.15536A>G (p.Tyr5179Cys)
c.15533A>G (p.Tyr5178Cys)
c.15521A>G (p.Tyr5174Cys)
c.15518A>G (p.Tyr5173Cys)
c.15512A>G (p.Tyr5171Cys)
c.15503A>G (p.Tyr5168Cys)
c.15452A>G (p.Tyr5151Cys)
c.15449A>G (p.Tyr5150Cys)
c.15416A>G (p.Tyr5139Cys)
c.15413A>G (p.Tyr5138Cys)
c.15380A>G (p.Tyr5127Cys)
c.15515A>G (p.Tyr5172Cys)
c.15488A>G (p.Tyr5163Cys)
c.15434A>G (p.Tyr5145Cys)
c.15401A>G (p.Tyr5134Cys)
c.15377A>G (p.Tyr5126Cys)
c.15329A>G (p.Tyr5110Cys)
c.15278A>G (p.Tyr5093Cys)
1g.19078031T>GCA338748225UBR4c.15269A>C (p.Tyr5090Ser)
c.2390A>C (p.Tyr797Ser)
c.494A>C (p.Tyr165Ser)
n.3276A>C
c.15422A>C (p.Tyr5141Ser)
c.15419A>C (p.Tyr5140Ser)
c.15407A>C (p.Tyr5136Ser)
c.15404A>C (p.Tyr5135Ser)
c.15398A>C (p.Tyr5133Ser)
c.15389A>C (p.Tyr5130Ser)
c.15338A>C (p.Tyr5113Ser)
c.15335A>C (p.Tyr5112Ser)
c.15302A>C (p.Tyr5101Ser)
c.15299A>C (p.Tyr5100Ser)
c.15266A>C (p.Tyr5089Ser)
c.15536A>C (p.Tyr5179Ser)
c.15533A>C (p.Tyr5178Ser)
c.15521A>C (p.Tyr5174Ser)
c.15518A>C (p.Tyr5173Ser)
c.15512A>C (p.Tyr5171Ser)
c.15503A>C (p.Tyr5168Ser)
c.15452A>C (p.Tyr5151Ser)
c.15449A>C (p.Tyr5150Ser)
c.15416A>C (p.Tyr5139Ser)
c.15413A>C (p.Tyr5138Ser)
c.15380A>C (p.Tyr5127Ser)
c.15515A>C (p.Tyr5172Ser)
c.15488A>C (p.Tyr5163Ser)
c.15434A>C (p.Tyr5145Ser)
c.15401A>C (p.Tyr5134Ser)
c.15377A>C (p.Tyr5126Ser)
c.15329A>C (p.Tyr5110Ser)
c.15278A>C (p.Tyr5093Ser)
1g.19078032A>CCA338748232UBR4c.15268T>G (p.Tyr5090Asp)
c.2389T>G (p.Tyr797Asp)
c.493T>G (p.Tyr165Asp)
n.3275T>G
c.15421T>G (p.Tyr5141Asp)
c.15418T>G (p.Tyr5140Asp)
c.15406T>G (p.Tyr5136Asp)
c.15403T>G (p.Tyr5135Asp)
c.15397T>G (p.Tyr5133Asp)
c.15388T>G (p.Tyr5130Asp)
c.15337T>G (p.Tyr5113Asp)
c.15334T>G (p.Tyr5112Asp)
c.15301T>G (p.Tyr5101Asp)
c.15298T>G (p.Tyr5100Asp)
c.15265T>G (p.Tyr5089Asp)
c.15535T>G (p.Tyr5179Asp)
c.15532T>G (p.Tyr5178Asp)
c.15520T>G (p.Tyr5174Asp)
c.15517T>G (p.Tyr5173Asp)
c.15511T>G (p.Tyr5171Asp)
c.15502T>G (p.Tyr5168Asp)
c.15451T>G (p.Tyr5151Asp)
c.15448T>G (p.Tyr5150Asp)
c.15415T>G (p.Tyr5139Asp)
c.15412T>G (p.Tyr5138Asp)
c.15379T>G (p.Tyr5127Asp)
c.15514T>G (p.Tyr5172Asp)
c.15487T>G (p.Tyr5163Asp)
c.15433T>G (p.Tyr5145Asp)
c.15400T>G (p.Tyr5134Asp)
c.15376T>G (p.Tyr5126Asp)
c.15328T>G (p.Tyr5110Asp)
c.15277T>G (p.Tyr5093Asp)
1g.19078032A>GCA338748234UBR4c.15268T>C (p.Tyr5090His)
c.2389T>C (p.Tyr797His)
c.493T>C (p.Tyr165His)
n.3275T>C
c.15421T>C (p.Tyr5141His)
c.15418T>C (p.Tyr5140His)
c.15406T>C (p.Tyr5136His)
c.15403T>C (p.Tyr5135His)
c.15397T>C (p.Tyr5133His)
c.15388T>C (p.Tyr5130His)
c.15337T>C (p.Tyr5113His)
c.15334T>C (p.Tyr5112His)
c.15301T>C (p.Tyr5101His)
c.15298T>C (p.Tyr5100His)
c.15265T>C (p.Tyr5089His)
c.15535T>C (p.Tyr5179His)
c.15532T>C (p.Tyr5178His)
c.15520T>C (p.Tyr5174His)
c.15517T>C (p.Tyr5173His)
c.15511T>C (p.Tyr5171His)
c.15502T>C (p.Tyr5168His)
c.15451T>C (p.Tyr5151His)
c.15448T>C (p.Tyr5150His)
c.15415T>C (p.Tyr5139His)
c.15412T>C (p.Tyr5138His)
c.15379T>C (p.Tyr5127His)
c.15514T>C (p.Tyr5172His)
c.15487T>C (p.Tyr5163His)
c.15433T>C (p.Tyr5145His)
c.15400T>C (p.Tyr5134His)
c.15376T>C (p.Tyr5126His)
c.15328T>C (p.Tyr5110His)
c.15277T>C (p.Tyr5093His)
1g.19078032A>TCA338748236UBR4c.15268T>A (p.Tyr5090Asn)
c.2389T>A (p.Tyr797Asn)
c.493T>A (p.Tyr165Asn)
n.3275T>A
c.15421T>A (p.Tyr5141Asn)
c.15418T>A (p.Tyr5140Asn)
c.15406T>A (p.Tyr5136Asn)
c.15403T>A (p.Tyr5135Asn)
c.15397T>A (p.Tyr5133Asn)
c.15388T>A (p.Tyr5130Asn)
c.15337T>A (p.Tyr5113Asn)
c.15334T>A (p.Tyr5112Asn)
c.15301T>A (p.Tyr5101Asn)
c.15298T>A (p.Tyr5100Asn)
c.15265T>A (p.Tyr5089Asn)
c.15535T>A (p.Tyr5179Asn)
c.15532T>A (p.Tyr5178Asn)
c.15520T>A (p.Tyr5174Asn)
c.15517T>A (p.Tyr5173Asn)
c.15511T>A (p.Tyr5171Asn)
c.15502T>A (p.Tyr5168Asn)
c.15451T>A (p.Tyr5151Asn)
c.15448T>A (p.Tyr5150Asn)
c.15415T>A (p.Tyr5139Asn)
c.15412T>A (p.Tyr5138Asn)
c.15379T>A (p.Tyr5127Asn)
c.15514T>A (p.Tyr5172Asn)
c.15487T>A (p.Tyr5163Asn)
c.15433T>A (p.Tyr5145Asn)
c.15400T>A (p.Tyr5134Asn)
c.15376T>A (p.Tyr5126Asn)
c.15328T>A (p.Tyr5110Asn)
c.15277T>A (p.Tyr5093Asn)
1g.19078033A>CCA416453155UBR4c.15267T>G (p.Ala5089=)
c.2388T>G (p.Ala796=)
c.492T>G (p.Ala164=)
n.3274T>G
c.15420T>G (p.Ala5140=)
c.15417T>G (p.Ala5139=)
c.15405T>G (p.Ala5135=)
c.15402T>G (p.Ala5134=)
c.15396T>G (p.Ala5132=)
c.15387T>G (p.Ala5129=)
c.15336T>G (p.Ala5112=)
c.15333T>G (p.Ala5111=)
c.15300T>G (p.Ala5100=)
c.15297T>G (p.Ala5099=)
c.15264T>G (p.Ala5088=)
c.15534T>G (p.Ala5178=)
c.15531T>G (p.Ala5177=)
c.15519T>G (p.Ala5173=)
c.15516T>G (p.Ala5172=)
c.15510T>G (p.Ala5170=)
c.15501T>G (p.Ala5167=)
c.15450T>G (p.Ala5150=)
c.15447T>G (p.Ala5149=)
c.15414T>G (p.Ala5138=)
c.15411T>G (p.Ala5137=)
c.15378T>G (p.Ala5126=)
c.15513T>G (p.Ala5171=)
c.15486T>G (p.Ala5162=)
c.15432T>G (p.Ala5144=)
c.15399T>G (p.Ala5133=)
c.15375T>G (p.Ala5125=)
c.15327T>G (p.Ala5109=)
c.15276T>G (p.Ala5092=)
1g.19078033A>GCA416453156UBR4c.15267T>C (p.Ala5089=)
c.2388T>C (p.Ala796=)
c.492T>C (p.Ala164=)
n.3274T>C
c.15420T>C (p.Ala5140=)
c.15417T>C (p.Ala5139=)
c.15405T>C (p.Ala5135=)
c.15402T>C (p.Ala5134=)
c.15396T>C (p.Ala5132=)
c.15387T>C (p.Ala5129=)
c.15336T>C (p.Ala5112=)
c.15333T>C (p.Ala5111=)
c.15300T>C (p.Ala5100=)
c.15297T>C (p.Ala5099=)
c.15264T>C (p.Ala5088=)
c.15534T>C (p.Ala5178=)
c.15531T>C (p.Ala5177=)
c.15519T>C (p.Ala5173=)
c.15516T>C (p.Ala5172=)
c.15510T>C (p.Ala5170=)
c.15501T>C (p.Ala5167=)
c.15450T>C (p.Ala5150=)
c.15447T>C (p.Ala5149=)
c.15414T>C (p.Ala5138=)
c.15411T>C (p.Ala5137=)
c.15378T>C (p.Ala5126=)
c.15513T>C (p.Ala5171=)
c.15486T>C (p.Ala5162=)
c.15432T>C (p.Ala5144=)
c.15399T>C (p.Ala5133=)
c.15375T>C (p.Ala5125=)
c.15327T>C (p.Ala5109=)
c.15276T>C (p.Ala5092=)
 gnomAD v4
1g.19078033A>TCA416453157UBR4c.15267T>A (p.Ala5089=)
c.2388T>A (p.Ala796=)
c.492T>A (p.Ala164=)
n.3274T>A
c.15420T>A (p.Ala5140=)
c.15417T>A (p.Ala5139=)
c.15405T>A (p.Ala5135=)
c.15402T>A (p.Ala5134=)
c.15396T>A (p.Ala5132=)
c.15387T>A (p.Ala5129=)
c.15336T>A (p.Ala5112=)
c.15333T>A (p.Ala5111=)
c.15300T>A (p.Ala5100=)
c.15297T>A (p.Ala5099=)
c.15264T>A (p.Ala5088=)
c.15534T>A (p.Ala5178=)
c.15531T>A (p.Ala5177=)
c.15519T>A (p.Ala5173=)
c.15516T>A (p.Ala5172=)
c.15510T>A (p.Ala5170=)
c.15501T>A (p.Ala5167=)
c.15450T>A (p.Ala5150=)
c.15447T>A (p.Ala5149=)
c.15414T>A (p.Ala5138=)
c.15411T>A (p.Ala5137=)
c.15378T>A (p.Ala5126=)
c.15513T>A (p.Ala5171=)
c.15486T>A (p.Ala5162=)
c.15432T>A (p.Ala5144=)
c.15399T>A (p.Ala5133=)
c.15375T>A (p.Ala5125=)
c.15327T>A (p.Ala5109=)
c.15276T>A (p.Ala5092=)
1g.19078034G>ACA338748237UBR4c.15266C>T (p.Ala5089Val)
c.2387C>T (p.Ala796Val)
c.491C>T (p.Ala164Val)
n.3273C>T
c.15419C>T (p.Ala5140Val)
c.15416C>T (p.Ala5139Val)
c.15404C>T (p.Ala5135Val)
c.15401C>T (p.Ala5134Val)
c.15395C>T (p.Ala5132Val)
c.15386C>T (p.Ala5129Val)
c.15335C>T (p.Ala5112Val)
c.15332C>T (p.Ala5111Val)
c.15299C>T (p.Ala5100Val)
c.15296C>T (p.Ala5099Val)
c.15263C>T (p.Ala5088Val)
c.15533C>T (p.Ala5178Val)
c.15530C>T (p.Ala5177Val)
c.15518C>T (p.Ala5173Val)
c.15515C>T (p.Ala5172Val)
c.15509C>T (p.Ala5170Val)
c.15500C>T (p.Ala5167Val)
c.15449C>T (p.Ala5150Val)
c.15446C>T (p.Ala5149Val)
c.15413C>T (p.Ala5138Val)
c.15410C>T (p.Ala5137Val)
c.15377C>T (p.Ala5126Val)
c.15512C>T (p.Ala5171Val)
c.15485C>T (p.Ala5162Val)
c.15431C>T (p.Ala5144Val)
c.15398C>T (p.Ala5133Val)
c.15374C>T (p.Ala5125Val)
c.15326C>T (p.Ala5109Val)
c.15275C>T (p.Ala5092Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.19078034G>CCA338748238UBR4c.15266C>G (p.Ala5089Gly)
c.2387C>G (p.Ala796Gly)
c.491C>G (p.Ala164Gly)
n.3273C>G
c.15419C>G (p.Ala5140Gly)
c.15416C>G (p.Ala5139Gly)
c.15404C>G (p.Ala5135Gly)
c.15401C>G (p.Ala5134Gly)
c.15395C>G (p.Ala5132Gly)
c.15386C>G (p.Ala5129Gly)
c.15335C>G (p.Ala5112Gly)
c.15332C>G (p.Ala5111Gly)
c.15299C>G (p.Ala5100Gly)
c.15296C>G (p.Ala5099Gly)
c.15263C>G (p.Ala5088Gly)
c.15533C>G (p.Ala5178Gly)
c.15530C>G (p.Ala5177Gly)
c.15518C>G (p.Ala5173Gly)
c.15515C>G (p.Ala5172Gly)
c.15509C>G (p.Ala5170Gly)
c.15500C>G (p.Ala5167Gly)
c.15449C>G (p.Ala5150Gly)
c.15446C>G (p.Ala5149Gly)
c.15413C>G (p.Ala5138Gly)
c.15410C>G (p.Ala5137Gly)
c.15377C>G (p.Ala5126Gly)
c.15512C>G (p.Ala5171Gly)
c.15485C>G (p.Ala5162Gly)
c.15431C>G (p.Ala5144Gly)
c.15398C>G (p.Ala5133Gly)
c.15374C>G (p.Ala5125Gly)
c.15326C>G (p.Ala5109Gly)
c.15275C>G (p.Ala5092Gly)
1g.19078034G=CA1156956082UBR4c.15266C= (p.Ala5089=)
c.2387C= (p.Ala796=)
c.491C= (p.Ala164=)
n.3273C=
c.15419C= (p.Ala5140=)
c.15416C= (p.Ala5139=)
c.15404C= (p.Ala5135=)
c.15401C= (p.Ala5134=)
c.15395C= (p.Ala5132=)
c.15386C= (p.Ala5129=)
c.15335C= (p.Ala5112=)
c.15332C= (p.Ala5111=)
c.15299C= (p.Ala5100=)
c.15296C= (p.Ala5099=)
c.15263C= (p.Ala5088=)
c.15533C= (p.Ala5178=)
c.15530C= (p.Ala5177=)
c.15518C= (p.Ala5173=)
c.15515C= (p.Ala5172=)
c.15509C= (p.Ala5170=)
c.15500C= (p.Ala5167=)
c.15449C= (p.Ala5150=)
c.15446C= (p.Ala5149=)
c.15413C= (p.Ala5138=)
c.15410C= (p.Ala5137=)
c.15377C= (p.Ala5126=)
c.15512C= (p.Ala5171=)
c.15485C= (p.Ala5162=)
c.15431C= (p.Ala5144=)
c.15398C= (p.Ala5133=)
c.15374C= (p.Ala5125=)
c.15326C= (p.Ala5109=)
c.15275C= (p.Ala5092=)
1g.19078034G>TCA338748240UBR4c.15266C>A (p.Ala5089Asp)
c.2387C>A (p.Ala796Asp)
c.491C>A (p.Ala164Asp)
n.3273C>A
c.15419C>A (p.Ala5140Asp)
c.15416C>A (p.Ala5139Asp)
c.15404C>A (p.Ala5135Asp)
c.15401C>A (p.Ala5134Asp)
c.15395C>A (p.Ala5132Asp)
c.15386C>A (p.Ala5129Asp)
c.15335C>A (p.Ala5112Asp)
c.15332C>A (p.Ala5111Asp)
c.15299C>A (p.Ala5100Asp)
c.15296C>A (p.Ala5099Asp)
c.15263C>A (p.Ala5088Asp)
c.15533C>A (p.Ala5178Asp)
c.15530C>A (p.Ala5177Asp)
c.15518C>A (p.Ala5173Asp)
c.15515C>A (p.Ala5172Asp)
c.15509C>A (p.Ala5170Asp)
c.15500C>A (p.Ala5167Asp)
c.15449C>A (p.Ala5150Asp)
c.15446C>A (p.Ala5149Asp)
c.15413C>A (p.Ala5138Asp)
c.15410C>A (p.Ala5137Asp)
c.15377C>A (p.Ala5126Asp)
c.15512C>A (p.Ala5171Asp)
c.15485C>A (p.Ala5162Asp)
c.15431C>A (p.Ala5144Asp)
c.15398C>A (p.Ala5133Asp)
c.15374C>A (p.Ala5125Asp)
c.15326C>A (p.Ala5109Asp)
c.15275C>A (p.Ala5092Asp)
1g.19078035C>ACA338748245UBR4c.15265G>T (p.Ala5089Ser)
c.2386G>T (p.Ala796Ser)
c.490G>T (p.Ala164Ser)
n.3272G>T
c.15418G>T (p.Ala5140Ser)
c.15415G>T (p.Ala5139Ser)
c.15403G>T (p.Ala5135Ser)
c.15400G>T (p.Ala5134Ser)
c.15394G>T (p.Ala5132Ser)
c.15385G>T (p.Ala5129Ser)
c.15334G>T (p.Ala5112Ser)
c.15331G>T (p.Ala5111Ser)
c.15298G>T (p.Ala5100Ser)
c.15295G>T (p.Ala5099Ser)
c.15262G>T (p.Ala5088Ser)
c.15532G>T (p.Ala5178Ser)
c.15529G>T (p.Ala5177Ser)
c.15517G>T (p.Ala5173Ser)
c.15514G>T (p.Ala5172Ser)
c.15508G>T (p.Ala5170Ser)
c.15499G>T (p.Ala5167Ser)
c.15448G>T (p.Ala5150Ser)
c.15445G>T (p.Ala5149Ser)
c.15412G>T (p.Ala5138Ser)
c.15409G>T (p.Ala5137Ser)
c.15376G>T (p.Ala5126Ser)
c.15511G>T (p.Ala5171Ser)
c.15484G>T (p.Ala5162Ser)
c.15430G>T (p.Ala5144Ser)
c.15397G>T (p.Ala5133Ser)
c.15373G>T (p.Ala5125Ser)
c.15325G>T (p.Ala5109Ser)
c.15274G>T (p.Ala5092Ser)
1g.19078035C=CA1156956083UBR4c.15265G= (p.Ala5089=)
c.2386G= (p.Ala796=)
c.490G= (p.Ala164=)
n.3272G=
c.15418G= (p.Ala5140=)
c.15415G= (p.Ala5139=)
c.15403G= (p.Ala5135=)
c.15400G= (p.Ala5134=)
c.15394G= (p.Ala5132=)
c.15385G= (p.Ala5129=)
c.15334G= (p.Ala5112=)
c.15331G= (p.Ala5111=)
c.15298G= (p.Ala5100=)
c.15295G= (p.Ala5099=)
c.15262G= (p.Ala5088=)
c.15532G= (p.Ala5178=)
c.15529G= (p.Ala5177=)
c.15517G= (p.Ala5173=)
c.15514G= (p.Ala5172=)
c.15508G= (p.Ala5170=)
c.15499G= (p.Ala5167=)
c.15448G= (p.Ala5150=)
c.15445G= (p.Ala5149=)
c.15412G= (p.Ala5138=)
c.15409G= (p.Ala5137=)
c.15376G= (p.Ala5126=)
c.15511G= (p.Ala5171=)
c.15484G= (p.Ala5162=)
c.15430G= (p.Ala5144=)
c.15397G= (p.Ala5133=)
c.15373G= (p.Ala5125=)
c.15325G= (p.Ala5109=)
c.15274G= (p.Ala5092=)
1g.19078035C>GCA338748241UBR4c.15265G>C (p.Ala5089Pro)
c.2386G>C (p.Ala796Pro)
c.490G>C (p.Ala164Pro)
n.3272G>C
c.15418G>C (p.Ala5140Pro)
c.15415G>C (p.Ala5139Pro)
c.15403G>C (p.Ala5135Pro)
c.15400G>C (p.Ala5134Pro)
c.15394G>C (p.Ala5132Pro)
c.15385G>C (p.Ala5129Pro)
c.15334G>C (p.Ala5112Pro)
c.15331G>C (p.Ala5111Pro)
c.15298G>C (p.Ala5100Pro)
c.15295G>C (p.Ala5099Pro)
c.15262G>C (p.Ala5088Pro)
c.15532G>C (p.Ala5178Pro)
c.15529G>C (p.Ala5177Pro)
c.15517G>C (p.Ala5173Pro)
c.15514G>C (p.Ala5172Pro)
c.15508G>C (p.Ala5170Pro)
c.15499G>C (p.Ala5167Pro)
c.15448G>C (p.Ala5150Pro)
c.15445G>C (p.Ala5149Pro)
c.15412G>C (p.Ala5138Pro)
c.15409G>C (p.Ala5137Pro)
c.15376G>C (p.Ala5126Pro)
c.15511G>C (p.Ala5171Pro)
c.15484G>C (p.Ala5162Pro)
c.15430G>C (p.Ala5144Pro)
c.15397G>C (p.Ala5133Pro)
c.15373G>C (p.Ala5125Pro)
c.15325G>C (p.Ala5109Pro)
c.15274G>C (p.Ala5092Pro)
1g.19078035C>TCA647921UBR4c.15265G>A (p.Ala5089Thr)
c.2386G>A (p.Ala796Thr)
c.490G>A (p.Ala164Thr)
n.3272G>A
c.15418G>A (p.Ala5140Thr)
c.15415G>A (p.Ala5139Thr)
c.15403G>A (p.Ala5135Thr)
c.15400G>A (p.Ala5134Thr)
c.15394G>A (p.Ala5132Thr)
c.15385G>A (p.Ala5129Thr)
c.15334G>A (p.Ala5112Thr)
c.15331G>A (p.Ala5111Thr)
c.15298G>A (p.Ala5100Thr)
c.15295G>A (p.Ala5099Thr)
c.15262G>A (p.Ala5088Thr)
c.15532G>A (p.Ala5178Thr)
c.15529G>A (p.Ala5177Thr)
c.15517G>A (p.Ala5173Thr)
c.15514G>A (p.Ala5172Thr)
c.15508G>A (p.Ala5170Thr)
c.15499G>A (p.Ala5167Thr)
c.15448G>A (p.Ala5150Thr)
c.15445G>A (p.Ala5149Thr)
c.15412G>A (p.Ala5138Thr)
c.15409G>A (p.Ala5137Thr)
c.15376G>A (p.Ala5126Thr)
c.15511G>A (p.Ala5171Thr)
c.15484G>A (p.Ala5162Thr)
c.15430G>A (p.Ala5144Thr)
c.15397G>A (p.Ala5133Thr)
c.15373G>A (p.Ala5125Thr)
c.15325G>A (p.Ala5109Thr)
c.15274G>A (p.Ala5092Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
1g.19078036G>ACA647922UBR4c.15264C>T (p.Ser5088=)
c.2385C>T (p.Ser795=)
c.489C>T (p.Ser163=)
n.3271C>T
c.15417C>T (p.Ser5139=)
c.15414C>T (p.Ser5138=)
c.15402C>T (p.Ser5134=)
c.15399C>T (p.Ser5133=)
c.15393C>T (p.Ser5131=)
c.15384C>T (p.Ser5128=)
c.15333C>T (p.Ser5111=)
c.15330C>T (p.Ser5110=)
c.15297C>T (p.Ser5099=)
c.15294C>T (p.Ser5098=)
c.15261C>T (p.Ser5087=)
c.15531C>T (p.Ser5177=)
c.15528C>T (p.Ser5176=)
c.15516C>T (p.Ser5172=)
c.15513C>T (p.Ser5171=)
c.15507C>T (p.Ser5169=)
c.15498C>T (p.Ser5166=)
c.15447C>T (p.Ser5149=)
c.15444C>T (p.Ser5148=)
c.15411C>T (p.Ser5137=)
c.15408C>T (p.Ser5136=)
c.15375C>T (p.Ser5125=)
c.15510C>T (p.Ser5170=)
c.15483C>T (p.Ser5161=)
c.15429C>T (p.Ser5143=)
c.15396C>T (p.Ser5132=)
c.15372C>T (p.Ser5124=)
c.15324C>T (p.Ser5108=)
c.15273C>T (p.Ser5091=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
1g.19078036G>CCA416453159UBR4c.15264C>G (p.Ser5088=)
c.2385C>G (p.Ser795=)
c.489C>G (p.Ser163=)
n.3271C>G
c.15417C>G (p.Ser5139=)
c.15414C>G (p.Ser5138=)
c.15402C>G (p.Ser5134=)
c.15399C>G (p.Ser5133=)
c.15393C>G (p.Ser5131=)
c.15384C>G (p.Ser5128=)
c.15333C>G (p.Ser5111=)
c.15330C>G (p.Ser5110=)
c.15297C>G (p.Ser5099=)
c.15294C>G (p.Ser5098=)
c.15261C>G (p.Ser5087=)
c.15531C>G (p.Ser5177=)
c.15528C>G (p.Ser5176=)
c.15516C>G (p.Ser5172=)
c.15513C>G (p.Ser5171=)
c.15507C>G (p.Ser5169=)
c.15498C>G (p.Ser5166=)
c.15447C>G (p.Ser5149=)
c.15444C>G (p.Ser5148=)
c.15411C>G (p.Ser5137=)
c.15408C>G (p.Ser5136=)
c.15375C>G (p.Ser5125=)
c.15510C>G (p.Ser5170=)
c.15483C>G (p.Ser5161=)
c.15429C>G (p.Ser5143=)
c.15396C>G (p.Ser5132=)
c.15372C>G (p.Ser5124=)
c.15324C>G (p.Ser5108=)
c.15273C>G (p.Ser5091=)
1g.19078036G=CA1156956084UBR4c.15264C= (p.Ser5088=)
c.2385C= (p.Ser795=)
c.489C= (p.Ser163=)
n.3271C=
c.15417C= (p.Ser5139=)
c.15414C= (p.Ser5138=)
c.15402C= (p.Ser5134=)
c.15399C= (p.Ser5133=)
c.15393C= (p.Ser5131=)
c.15384C= (p.Ser5128=)
c.15333C= (p.Ser5111=)
c.15330C= (p.Ser5110=)
c.15297C= (p.Ser5099=)
c.15294C= (p.Ser5098=)
c.15261C= (p.Ser5087=)
c.15531C= (p.Ser5177=)
c.15528C= (p.Ser5176=)
c.15516C= (p.Ser5172=)
c.15513C= (p.Ser5171=)
c.15507C= (p.Ser5169=)
c.15498C= (p.Ser5166=)
c.15447C= (p.Ser5149=)
c.15444C= (p.Ser5148=)
c.15411C= (p.Ser5137=)
c.15408C= (p.Ser5136=)
c.15375C= (p.Ser5125=)
c.15510C= (p.Ser5170=)
c.15483C= (p.Ser5161=)
c.15429C= (p.Ser5143=)
c.15396C= (p.Ser5132=)
c.15372C= (p.Ser5124=)
c.15324C= (p.Ser5108=)
c.15273C= (p.Ser5091=)
1g.19078036G>TCA416453158UBR4c.15264C>A (p.Ser5088=)
c.2385C>A (p.Ser795=)
c.489C>A (p.Ser163=)
n.3271C>A
c.15417C>A (p.Ser5139=)
c.15414C>A (p.Ser5138=)
c.15402C>A (p.Ser5134=)
c.15399C>A (p.Ser5133=)
c.15393C>A (p.Ser5131=)
c.15384C>A (p.Ser5128=)
c.15333C>A (p.Ser5111=)
c.15330C>A (p.Ser5110=)
c.15297C>A (p.Ser5099=)
c.15294C>A (p.Ser5098=)
c.15261C>A (p.Ser5087=)
c.15531C>A (p.Ser5177=)
c.15528C>A (p.Ser5176=)
c.15516C>A (p.Ser5172=)
c.15513C>A (p.Ser5171=)
c.15507C>A (p.Ser5169=)
c.15498C>A (p.Ser5166=)
c.15447C>A (p.Ser5149=)
c.15444C>A (p.Ser5148=)
c.15411C>A (p.Ser5137=)
c.15408C>A (p.Ser5136=)
c.15375C>A (p.Ser5125=)
c.15510C>A (p.Ser5170=)
c.15483C>A (p.Ser5161=)
c.15429C>A (p.Ser5143=)
c.15396C>A (p.Ser5132=)
c.15372C>A (p.Ser5124=)
c.15324C>A (p.Ser5108=)
c.15273C>A (p.Ser5091=)
1g.19078037G>ACA338748248UBR4c.15263C>T (p.Ser5088Phe)
c.2384C>T (p.Ser795Phe)
c.488C>T (p.Ser163Phe)
n.3270C>T
c.15416C>T (p.Ser5139Phe)
c.15413C>T (p.Ser5138Phe)
c.15401C>T (p.Ser5134Phe)
c.15398C>T (p.Ser5133Phe)
c.15392C>T (p.Ser5131Phe)
c.15383C>T (p.Ser5128Phe)
c.15332C>T (p.Ser5111Phe)
c.15329C>T (p.Ser5110Phe)
c.15296C>T (p.Ser5099Phe)
c.15293C>T (p.Ser5098Phe)
c.15260C>T (p.Ser5087Phe)
c.15530C>T (p.Ser5177Phe)
c.15527C>T (p.Ser5176Phe)
c.15515C>T (p.Ser5172Phe)
c.15512C>T (p.Ser5171Phe)
c.15506C>T (p.Ser5169Phe)
c.15497C>T (p.Ser5166Phe)
c.15446C>T (p.Ser5149Phe)
c.15443C>T (p.Ser5148Phe)
c.15410C>T (p.Ser5137Phe)
c.15407C>T (p.Ser5136Phe)
c.15374C>T (p.Ser5125Phe)
c.15509C>T (p.Ser5170Phe)
c.15482C>T (p.Ser5161Phe)
c.15428C>T (p.Ser5143Phe)
c.15395C>T (p.Ser5132Phe)
c.15371C>T (p.Ser5124Phe)
c.15323C>T (p.Ser5108Phe)
c.15272C>T (p.Ser5091Phe)
1g.19078037G>CCA338748250UBR4c.15263C>G (p.Ser5088Cys)
c.2384C>G (p.Ser795Cys)
c.488C>G (p.Ser163Cys)
n.3270C>G
c.15416C>G (p.Ser5139Cys)
c.15413C>G (p.Ser5138Cys)
c.15401C>G (p.Ser5134Cys)
c.15398C>G (p.Ser5133Cys)
c.15392C>G (p.Ser5131Cys)
c.15383C>G (p.Ser5128Cys)
c.15332C>G (p.Ser5111Cys)
c.15329C>G (p.Ser5110Cys)
c.15296C>G (p.Ser5099Cys)
c.15293C>G (p.Ser5098Cys)
c.15260C>G (p.Ser5087Cys)
c.15530C>G (p.Ser5177Cys)
c.15527C>G (p.Ser5176Cys)
c.15515C>G (p.Ser5172Cys)
c.15512C>G (p.Ser5171Cys)
c.15506C>G (p.Ser5169Cys)
c.15497C>G (p.Ser5166Cys)
c.15446C>G (p.Ser5149Cys)
c.15443C>G (p.Ser5148Cys)
c.15410C>G (p.Ser5137Cys)
c.15407C>G (p.Ser5136Cys)
c.15374C>G (p.Ser5125Cys)
c.15509C>G (p.Ser5170Cys)
c.15482C>G (p.Ser5161Cys)
c.15428C>G (p.Ser5143Cys)
c.15395C>G (p.Ser5132Cys)
c.15371C>G (p.Ser5124Cys)
c.15323C>G (p.Ser5108Cys)
c.15272C>G (p.Ser5091Cys)
1g.19078037G>TCA338748252UBR4c.15263C>A (p.Ser5088Tyr)
c.2384C>A (p.Ser795Tyr)
c.488C>A (p.Ser163Tyr)
n.3270C>A
c.15416C>A (p.Ser5139Tyr)
c.15413C>A (p.Ser5138Tyr)
c.15401C>A (p.Ser5134Tyr)
c.15398C>A (p.Ser5133Tyr)
c.15392C>A (p.Ser5131Tyr)
c.15383C>A (p.Ser5128Tyr)
c.15332C>A (p.Ser5111Tyr)
c.15329C>A (p.Ser5110Tyr)
c.15296C>A (p.Ser5099Tyr)
c.15293C>A (p.Ser5098Tyr)
c.15260C>A (p.Ser5087Tyr)
c.15530C>A (p.Ser5177Tyr)
c.15527C>A (p.Ser5176Tyr)
c.15515C>A (p.Ser5172Tyr)
c.15512C>A (p.Ser5171Tyr)
c.15506C>A (p.Ser5169Tyr)
c.15497C>A (p.Ser5166Tyr)
c.15446C>A (p.Ser5149Tyr)
c.15443C>A (p.Ser5148Tyr)
c.15410C>A (p.Ser5137Tyr)
c.15407C>A (p.Ser5136Tyr)
c.15374C>A (p.Ser5125Tyr)
c.15509C>A (p.Ser5170Tyr)
c.15482C>A (p.Ser5161Tyr)
c.15428C>A (p.Ser5143Tyr)
c.15395C>A (p.Ser5132Tyr)
c.15371C>A (p.Ser5124Tyr)
c.15323C>A (p.Ser5108Tyr)
c.15272C>A (p.Ser5091Tyr)
1g.19078038A>CCA338748254UBR4c.15262T>G (p.Ser5088Ala)
c.2383T>G (p.Ser795Ala)
c.487T>G (p.Ser163Ala)
n.3269T>G
c.15415T>G (p.Ser5139Ala)
c.15412T>G (p.Ser5138Ala)
c.15400T>G (p.Ser5134Ala)
c.15397T>G (p.Ser5133Ala)
c.15391T>G (p.Ser5131Ala)
c.15382T>G (p.Ser5128Ala)
c.15331T>G (p.Ser5111Ala)
c.15328T>G (p.Ser5110Ala)
c.15295T>G (p.Ser5099Ala)
c.15292T>G (p.Ser5098Ala)
c.15259T>G (p.Ser5087Ala)
c.15529T>G (p.Ser5177Ala)
c.15526T>G (p.Ser5176Ala)
c.15514T>G (p.Ser5172Ala)
c.15511T>G (p.Ser5171Ala)
c.15505T>G (p.Ser5169Ala)
c.15496T>G (p.Ser5166Ala)
c.15445T>G (p.Ser5149Ala)
c.15442T>G (p.Ser5148Ala)
c.15409T>G (p.Ser5137Ala)
c.15406T>G (p.Ser5136Ala)
c.15373T>G (p.Ser5125Ala)
c.15508T>G (p.Ser5170Ala)
c.15481T>G (p.Ser5161Ala)
c.15427T>G (p.Ser5143Ala)
c.15394T>G (p.Ser5132Ala)
c.15370T>G (p.Ser5124Ala)
c.15322T>G (p.Ser5108Ala)
c.15271T>G (p.Ser5091Ala)
1g.19078038A>GCA338748255UBR4c.15262T>C (p.Ser5088Pro)
c.2383T>C (p.Ser795Pro)
c.487T>C (p.Ser163Pro)
n.3269T>C
c.15415T>C (p.Ser5139Pro)
c.15412T>C (p.Ser5138Pro)
c.15400T>C (p.Ser5134Pro)
c.15397T>C (p.Ser5133Pro)
c.15391T>C (p.Ser5131Pro)
c.15382T>C (p.Ser5128Pro)
c.15331T>C (p.Ser5111Pro)
c.15328T>C (p.Ser5110Pro)
c.15295T>C (p.Ser5099Pro)
c.15292T>C (p.Ser5098Pro)
c.15259T>C (p.Ser5087Pro)
c.15529T>C (p.Ser5177Pro)
c.15526T>C (p.Ser5176Pro)
c.15514T>C (p.Ser5172Pro)
c.15511T>C (p.Ser5171Pro)
c.15505T>C (p.Ser5169Pro)
c.15496T>C (p.Ser5166Pro)
c.15445T>C (p.Ser5149Pro)
c.15442T>C (p.Ser5148Pro)
c.15409T>C (p.Ser5137Pro)
c.15406T>C (p.Ser5136Pro)
c.15373T>C (p.Ser5125Pro)
c.15508T>C (p.Ser5170Pro)
c.15481T>C (p.Ser5161Pro)
c.15427T>C (p.Ser5143Pro)
c.15394T>C (p.Ser5132Pro)
c.15370T>C (p.Ser5124Pro)
c.15322T>C (p.Ser5108Pro)
c.15271T>C (p.Ser5091Pro)
1g.19078038A>TCA338748256UBR4c.15262T>A (p.Ser5088Thr)
c.2383T>A (p.Ser795Thr)
c.487T>A (p.Ser163Thr)
n.3269T>A
c.15415T>A (p.Ser5139Thr)
c.15412T>A (p.Ser5138Thr)
c.15400T>A (p.Ser5134Thr)
c.15397T>A (p.Ser5133Thr)
c.15391T>A (p.Ser5131Thr)
c.15382T>A (p.Ser5128Thr)
c.15331T>A (p.Ser5111Thr)
c.15328T>A (p.Ser5110Thr)
c.15295T>A (p.Ser5099Thr)
c.15292T>A (p.Ser5098Thr)
c.15259T>A (p.Ser5087Thr)
c.15529T>A (p.Ser5177Thr)
c.15526T>A (p.Ser5176Thr)
c.15514T>A (p.Ser5172Thr)
c.15511T>A (p.Ser5171Thr)
c.15505T>A (p.Ser5169Thr)
c.15496T>A (p.Ser5166Thr)
c.15445T>A (p.Ser5149Thr)
c.15442T>A (p.Ser5148Thr)
c.15409T>A (p.Ser5137Thr)
c.15406T>A (p.Ser5136Thr)
c.15373T>A (p.Ser5125Thr)
c.15508T>A (p.Ser5170Thr)
c.15481T>A (p.Ser5161Thr)
c.15427T>A (p.Ser5143Thr)
c.15394T>A (p.Ser5132Thr)
c.15370T>A (p.Ser5124Thr)
c.15322T>A (p.Ser5108Thr)
c.15271T>A (p.Ser5091Thr)
1g.19078039A>CCA338748259UBR4c.15261T>G (p.Tyr5087Ter)
c.2382T>G (p.Tyr794Ter)
c.486T>G (p.Tyr162Ter)
n.3268T>G
c.15414T>G (p.Tyr5138Ter)
c.15411T>G (p.Tyr5137Ter)
c.15399T>G (p.Tyr5133Ter)
c.15396T>G (p.Tyr5132Ter)
c.15390T>G (p.Tyr5130Ter)
c.15381T>G (p.Tyr5127Ter)
c.15330T>G (p.Tyr5110Ter)
c.15327T>G (p.Tyr5109Ter)
c.15294T>G (p.Tyr5098Ter)
c.15291T>G (p.Tyr5097Ter)
c.15258T>G (p.Tyr5086Ter)
c.15528T>G (p.Tyr5176Ter)
c.15525T>G (p.Tyr5175Ter)
c.15513T>G (p.Tyr5171Ter)
c.15510T>G (p.Tyr5170Ter)
c.15504T>G (p.Tyr5168Ter)
c.15495T>G (p.Tyr5165Ter)
c.15444T>G (p.Tyr5148Ter)
c.15441T>G (p.Tyr5147Ter)
c.15408T>G (p.Tyr5136Ter)
c.15405T>G (p.Tyr5135Ter)
c.15372T>G (p.Tyr5124Ter)
c.15507T>G (p.Tyr5169Ter)
c.15480T>G (p.Tyr5160Ter)
c.15426T>G (p.Tyr5142Ter)
c.15393T>G (p.Tyr5131Ter)
c.15369T>G (p.Tyr5123Ter)
c.15321T>G (p.Tyr5107Ter)
c.15270T>G (p.Tyr5090Ter)
1g.19078039A>GCA416453160UBR4c.15261T>C (p.Tyr5087=)
c.2382T>C (p.Tyr794=)
c.486T>C (p.Tyr162=)
n.3268T>C
c.15414T>C (p.Tyr5138=)
c.15411T>C (p.Tyr5137=)
c.15399T>C (p.Tyr5133=)
c.15396T>C (p.Tyr5132=)
c.15390T>C (p.Tyr5130=)
c.15381T>C (p.Tyr5127=)
c.15330T>C (p.Tyr5110=)
c.15327T>C (p.Tyr5109=)
c.15294T>C (p.Tyr5098=)
c.15291T>C (p.Tyr5097=)
c.15258T>C (p.Tyr5086=)
c.15528T>C (p.Tyr5176=)
c.15525T>C (p.Tyr5175=)
c.15513T>C (p.Tyr5171=)
c.15510T>C (p.Tyr5170=)
c.15504T>C (p.Tyr5168=)
c.15495T>C (p.Tyr5165=)
c.15444T>C (p.Tyr5148=)
c.15441T>C (p.Tyr5147=)
c.15408T>C (p.Tyr5136=)
c.15405T>C (p.Tyr5135=)
c.15372T>C (p.Tyr5124=)
c.15507T>C (p.Tyr5169=)
c.15480T>C (p.Tyr5160=)
c.15426T>C (p.Tyr5142=)
c.15393T>C (p.Tyr5131=)
c.15369T>C (p.Tyr5123=)
c.15321T>C (p.Tyr5107=)
c.15270T>C (p.Tyr5090=)
1g.19078039A>TCA338748260UBR4c.15261T>A (p.Tyr5087Ter)
c.2382T>A (p.Tyr794Ter)
c.486T>A (p.Tyr162Ter)
n.3268T>A
c.15414T>A (p.Tyr5138Ter)
c.15411T>A (p.Tyr5137Ter)
c.15399T>A (p.Tyr5133Ter)
c.15396T>A (p.Tyr5132Ter)
c.15390T>A (p.Tyr5130Ter)
c.15381T>A (p.Tyr5127Ter)
c.15330T>A (p.Tyr5110Ter)
c.15327T>A (p.Tyr5109Ter)
c.15294T>A (p.Tyr5098Ter)
c.15291T>A (p.Tyr5097Ter)
c.15258T>A (p.Tyr5086Ter)
c.15528T>A (p.Tyr5176Ter)
c.15525T>A (p.Tyr5175Ter)
c.15513T>A (p.Tyr5171Ter)
c.15510T>A (p.Tyr5170Ter)
c.15504T>A (p.Tyr5168Ter)
c.15495T>A (p.Tyr5165Ter)
c.15444T>A (p.Tyr5148Ter)
c.15441T>A (p.Tyr5147Ter)
c.15408T>A (p.Tyr5136Ter)
c.15405T>A (p.Tyr5135Ter)
c.15372T>A (p.Tyr5124Ter)
c.15507T>A (p.Tyr5169Ter)
c.15480T>A (p.Tyr5160Ter)
c.15426T>A (p.Tyr5142Ter)
c.15393T>A (p.Tyr5131Ter)
c.15369T>A (p.Tyr5123Ter)
c.15321T>A (p.Tyr5107Ter)
c.15270T>A (p.Tyr5090Ter)
1g.19078040T>ACA338748263UBR4c.15260A>T (p.Tyr5087Phe)
c.2381A>T (p.Tyr794Phe)
c.485A>T (p.Tyr162Phe)
n.3267A>T
c.15413A>T (p.Tyr5138Phe)
c.15410A>T (p.Tyr5137Phe)
c.15398A>T (p.Tyr5133Phe)
c.15395A>T (p.Tyr5132Phe)
c.15389A>T (p.Tyr5130Phe)
c.15380A>T (p.Tyr5127Phe)
c.15329A>T (p.Tyr5110Phe)
c.15326A>T (p.Tyr5109Phe)
c.15293A>T (p.Tyr5098Phe)
c.15290A>T (p.Tyr5097Phe)
c.15257A>T (p.Tyr5086Phe)
c.15527A>T (p.Tyr5176Phe)
c.15524A>T (p.Tyr5175Phe)
c.15512A>T (p.Tyr5171Phe)
c.15509A>T (p.Tyr5170Phe)
c.15503A>T (p.Tyr5168Phe)
c.15494A>T (p.Tyr5165Phe)
c.15443A>T (p.Tyr5148Phe)
c.15440A>T (p.Tyr5147Phe)
c.15407A>T (p.Tyr5136Phe)
c.15404A>T (p.Tyr5135Phe)
c.15371A>T (p.Tyr5124Phe)
c.15506A>T (p.Tyr5169Phe)
c.15479A>T (p.Tyr5160Phe)
c.15425A>T (p.Tyr5142Phe)
c.15392A>T (p.Tyr5131Phe)
c.15368A>T (p.Tyr5123Phe)
c.15320A>T (p.Tyr5107Phe)
c.15269A>T (p.Tyr5090Phe)
1g.19078040T>CCA338748264UBR4c.15260A>G (p.Tyr5087Cys)
c.2381A>G (p.Tyr794Cys)
c.485A>G (p.Tyr162Cys)
n.3267A>G
c.15413A>G (p.Tyr5138Cys)
c.15410A>G (p.Tyr5137Cys)
c.15398A>G (p.Tyr5133Cys)
c.15395A>G (p.Tyr5132Cys)
c.15389A>G (p.Tyr5130Cys)
c.15380A>G (p.Tyr5127Cys)
c.15329A>G (p.Tyr5110Cys)
c.15326A>G (p.Tyr5109Cys)
c.15293A>G (p.Tyr5098Cys)
c.15290A>G (p.Tyr5097Cys)
c.15257A>G (p.Tyr5086Cys)
c.15527A>G (p.Tyr5176Cys)
c.15524A>G (p.Tyr5175Cys)
c.15512A>G (p.Tyr5171Cys)
c.15509A>G (p.Tyr5170Cys)
c.15503A>G (p.Tyr5168Cys)
c.15494A>G (p.Tyr5165Cys)
c.15443A>G (p.Tyr5148Cys)
c.15440A>G (p.Tyr5147Cys)
c.15407A>G (p.Tyr5136Cys)
c.15404A>G (p.Tyr5135Cys)
c.15371A>G (p.Tyr5124Cys)
c.15506A>G (p.Tyr5169Cys)
c.15479A>G (p.Tyr5160Cys)
c.15425A>G (p.Tyr5142Cys)
c.15392A>G (p.Tyr5131Cys)
c.15368A>G (p.Tyr5123Cys)
c.15320A>G (p.Tyr5107Cys)
c.15269A>G (p.Tyr5090Cys)
1g.19078040T>GCA647923UBR4c.15260A>C (p.Tyr5087Ser)
c.2381A>C (p.Tyr794Ser)
c.485A>C (p.Tyr162Ser)
n.3267A>C
c.15413A>C (p.Tyr5138Ser)
c.15410A>C (p.Tyr5137Ser)
c.15398A>C (p.Tyr5133Ser)
c.15395A>C (p.Tyr5132Ser)
c.15389A>C (p.Tyr5130Ser)
c.15380A>C (p.Tyr5127Ser)
c.15329A>C (p.Tyr5110Ser)
c.15326A>C (p.Tyr5109Ser)
c.15293A>C (p.Tyr5098Ser)
c.15290A>C (p.Tyr5097Ser)
c.15257A>C (p.Tyr5086Ser)
c.15527A>C (p.Tyr5176Ser)
c.15524A>C (p.Tyr5175Ser)
c.15512A>C (p.Tyr5171Ser)
c.15509A>C (p.Tyr5170Ser)
c.15503A>C (p.Tyr5168Ser)
c.15494A>C (p.Tyr5165Ser)
c.15443A>C (p.Tyr5148Ser)
c.15440A>C (p.Tyr5147Ser)
c.15407A>C (p.Tyr5136Ser)
c.15404A>C (p.Tyr5135Ser)
c.15371A>C (p.Tyr5124Ser)
c.15506A>C (p.Tyr5169Ser)
c.15479A>C (p.Tyr5160Ser)
c.15425A>C (p.Tyr5142Ser)
c.15392A>C (p.Tyr5131Ser)
c.15368A>C (p.Tyr5123Ser)
c.15320A>C (p.Tyr5107Ser)
c.15269A>C (p.Tyr5090Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078040T=CA1144402372UBR4c.15260A= (p.Tyr5087=)
c.2381A= (p.Tyr794=)
c.485A= (p.Tyr162=)
n.3267A=
c.15413A= (p.Tyr5138=)
c.15410A= (p.Tyr5137=)
c.15398A= (p.Tyr5133=)
c.15395A= (p.Tyr5132=)
c.15389A= (p.Tyr5130=)
c.15380A= (p.Tyr5127=)
c.15329A= (p.Tyr5110=)
c.15326A= (p.Tyr5109=)
c.15293A= (p.Tyr5098=)
c.15290A= (p.Tyr5097=)
c.15257A= (p.Tyr5086=)
c.15527A= (p.Tyr5176=)
c.15524A= (p.Tyr5175=)
c.15512A= (p.Tyr5171=)
c.15509A= (p.Tyr5170=)
c.15503A= (p.Tyr5168=)
c.15494A= (p.Tyr5165=)
c.15443A= (p.Tyr5148=)
c.15440A= (p.Tyr5147=)
c.15407A= (p.Tyr5136=)
c.15404A= (p.Tyr5135=)
c.15371A= (p.Tyr5124=)
c.15506A= (p.Tyr5169=)
c.15479A= (p.Tyr5160=)
c.15425A= (p.Tyr5142=)
c.15392A= (p.Tyr5131=)
c.15368A= (p.Tyr5123=)
c.15320A= (p.Tyr5107=)
c.15269A= (p.Tyr5090=)
1g.19078041A>CCA338748267UBR4c.15259T>G (p.Tyr5087Asp)
c.2380T>G (p.Tyr794Asp)
c.484T>G (p.Tyr162Asp)
n.3266T>G
c.15412T>G (p.Tyr5138Asp)
c.15409T>G (p.Tyr5137Asp)
c.15397T>G (p.Tyr5133Asp)
c.15394T>G (p.Tyr5132Asp)
c.15388T>G (p.Tyr5130Asp)
c.15379T>G (p.Tyr5127Asp)
c.15328T>G (p.Tyr5110Asp)
c.15325T>G (p.Tyr5109Asp)
c.15292T>G (p.Tyr5098Asp)
c.15289T>G (p.Tyr5097Asp)
c.15256T>G (p.Tyr5086Asp)
c.15526T>G (p.Tyr5176Asp)
c.15523T>G (p.Tyr5175Asp)
c.15511T>G (p.Tyr5171Asp)
c.15508T>G (p.Tyr5170Asp)
c.15502T>G (p.Tyr5168Asp)
c.15493T>G (p.Tyr5165Asp)
c.15442T>G (p.Tyr5148Asp)
c.15439T>G (p.Tyr5147Asp)
c.15406T>G (p.Tyr5136Asp)
c.15403T>G (p.Tyr5135Asp)
c.15370T>G (p.Tyr5124Asp)
c.15505T>G (p.Tyr5169Asp)
c.15478T>G (p.Tyr5160Asp)
c.15424T>G (p.Tyr5142Asp)
c.15391T>G (p.Tyr5131Asp)
c.15367T>G (p.Tyr5123Asp)
c.15319T>G (p.Tyr5107Asp)
c.15268T>G (p.Tyr5090Asp)
1g.19078041A>GCA338748270UBR4c.15259T>C (p.Tyr5087His)
c.2380T>C (p.Tyr794His)
c.484T>C (p.Tyr162His)
n.3266T>C
c.15412T>C (p.Tyr5138His)
c.15409T>C (p.Tyr5137His)
c.15397T>C (p.Tyr5133His)
c.15394T>C (p.Tyr5132His)
c.15388T>C (p.Tyr5130His)
c.15379T>C (p.Tyr5127His)
c.15328T>C (p.Tyr5110His)
c.15325T>C (p.Tyr5109His)
c.15292T>C (p.Tyr5098His)
c.15289T>C (p.Tyr5097His)
c.15256T>C (p.Tyr5086His)
c.15526T>C (p.Tyr5176His)
c.15523T>C (p.Tyr5175His)
c.15511T>C (p.Tyr5171His)
c.15508T>C (p.Tyr5170His)
c.15502T>C (p.Tyr5168His)
c.15493T>C (p.Tyr5165His)
c.15442T>C (p.Tyr5148His)
c.15439T>C (p.Tyr5147His)
c.15406T>C (p.Tyr5136His)
c.15403T>C (p.Tyr5135His)
c.15370T>C (p.Tyr5124His)
c.15505T>C (p.Tyr5169His)
c.15478T>C (p.Tyr5160His)
c.15424T>C (p.Tyr5142His)
c.15391T>C (p.Tyr5131His)
c.15367T>C (p.Tyr5123His)
c.15319T>C (p.Tyr5107His)
c.15268T>C (p.Tyr5090His)
1g.19078041A>TCA338748269UBR4c.15259T>A (p.Tyr5087Asn)
c.2380T>A (p.Tyr794Asn)
c.484T>A (p.Tyr162Asn)
n.3266T>A
c.15412T>A (p.Tyr5138Asn)
c.15409T>A (p.Tyr5137Asn)
c.15397T>A (p.Tyr5133Asn)
c.15394T>A (p.Tyr5132Asn)
c.15388T>A (p.Tyr5130Asn)
c.15379T>A (p.Tyr5127Asn)
c.15328T>A (p.Tyr5110Asn)
c.15325T>A (p.Tyr5109Asn)
c.15292T>A (p.Tyr5098Asn)
c.15289T>A (p.Tyr5097Asn)
c.15256T>A (p.Tyr5086Asn)
c.15526T>A (p.Tyr5176Asn)
c.15523T>A (p.Tyr5175Asn)
c.15511T>A (p.Tyr5171Asn)
c.15508T>A (p.Tyr5170Asn)
c.15502T>A (p.Tyr5168Asn)
c.15493T>A (p.Tyr5165Asn)
c.15442T>A (p.Tyr5148Asn)
c.15439T>A (p.Tyr5147Asn)
c.15406T>A (p.Tyr5136Asn)
c.15403T>A (p.Tyr5135Asn)
c.15370T>A (p.Tyr5124Asn)
c.15505T>A (p.Tyr5169Asn)
c.15478T>A (p.Tyr5160Asn)
c.15424T>A (p.Tyr5142Asn)
c.15391T>A (p.Tyr5131Asn)
c.15367T>A (p.Tyr5123Asn)
c.15319T>A (p.Tyr5107Asn)
c.15268T>A (p.Tyr5090Asn)
1g.19078042G>ACA416453161UBR4c.15258C>T (p.Asp5086=)
c.2379C>T (p.Asp793=)
c.483C>T (p.Asp161=)
n.3265C>T
c.15411C>T (p.Asp5137=)
c.15408C>T (p.Asp5136=)
c.15396C>T (p.Asp5132=)
c.15393C>T (p.Asp5131=)
c.15387C>T (p.Asp5129=)
c.15378C>T (p.Asp5126=)
c.15327C>T (p.Asp5109=)
c.15324C>T (p.Asp5108=)
c.15291C>T (p.Asp5097=)
c.15288C>T (p.Asp5096=)
c.15255C>T (p.Asp5085=)
c.15525C>T (p.Asp5175=)
c.15522C>T (p.Asp5174=)
c.15510C>T (p.Asp5170=)
c.15507C>T (p.Asp5169=)
c.15501C>T (p.Asp5167=)
c.15492C>T (p.Asp5164=)
c.15441C>T (p.Asp5147=)
c.15438C>T (p.Asp5146=)
c.15405C>T (p.Asp5135=)
c.15402C>T (p.Asp5134=)
c.15369C>T (p.Asp5123=)
c.15504C>T (p.Asp5168=)
c.15477C>T (p.Asp5159=)
c.15423C>T (p.Asp5141=)
c.15390C>T (p.Asp5130=)
c.15366C>T (p.Asp5122=)
c.15318C>T (p.Asp5106=)
c.15267C>T (p.Asp5089=)
1g.19078042G>CCA338748272UBR4c.15258C>G (p.Asp5086Glu)
c.2379C>G (p.Asp793Glu)
c.483C>G (p.Asp161Glu)
n.3265C>G
c.15411C>G (p.Asp5137Glu)
c.15408C>G (p.Asp5136Glu)
c.15396C>G (p.Asp5132Glu)
c.15393C>G (p.Asp5131Glu)
c.15387C>G (p.Asp5129Glu)
c.15378C>G (p.Asp5126Glu)
c.15327C>G (p.Asp5109Glu)
c.15324C>G (p.Asp5108Glu)
c.15291C>G (p.Asp5097Glu)
c.15288C>G (p.Asp5096Glu)
c.15255C>G (p.Asp5085Glu)
c.15525C>G (p.Asp5175Glu)
c.15522C>G (p.Asp5174Glu)
c.15510C>G (p.Asp5170Glu)
c.15507C>G (p.Asp5169Glu)
c.15501C>G (p.Asp5167Glu)
c.15492C>G (p.Asp5164Glu)
c.15441C>G (p.Asp5147Glu)
c.15438C>G (p.Asp5146Glu)
c.15405C>G (p.Asp5135Glu)
c.15402C>G (p.Asp5134Glu)
c.15369C>G (p.Asp5123Glu)
c.15504C>G (p.Asp5168Glu)
c.15477C>G (p.Asp5159Glu)
c.15423C>G (p.Asp5141Glu)
c.15390C>G (p.Asp5130Glu)
c.15366C>G (p.Asp5122Glu)
c.15318C>G (p.Asp5106Glu)
c.15267C>G (p.Asp5089Glu)
1g.19078042G=CA1156956085UBR4c.15258C= (p.Asp5086=)
c.2379C= (p.Asp793=)
c.483C= (p.Asp161=)
n.3265C=
c.15411C= (p.Asp5137=)
c.15408C= (p.Asp5136=)
c.15396C= (p.Asp5132=)
c.15393C= (p.Asp5131=)
c.15387C= (p.Asp5129=)
c.15378C= (p.Asp5126=)
c.15327C= (p.Asp5109=)
c.15324C= (p.Asp5108=)
c.15291C= (p.Asp5097=)
c.15288C= (p.Asp5096=)
c.15255C= (p.Asp5085=)
c.15525C= (p.Asp5175=)
c.15522C= (p.Asp5174=)
c.15510C= (p.Asp5170=)
c.15507C= (p.Asp5169=)
c.15501C= (p.Asp5167=)
c.15492C= (p.Asp5164=)
c.15441C= (p.Asp5147=)
c.15438C= (p.Asp5146=)
c.15405C= (p.Asp5135=)
c.15402C= (p.Asp5134=)
c.15369C= (p.Asp5123=)
c.15504C= (p.Asp5168=)
c.15477C= (p.Asp5159=)
c.15423C= (p.Asp5141=)
c.15390C= (p.Asp5130=)
c.15366C= (p.Asp5122=)
c.15318C= (p.Asp5106=)
c.15267C= (p.Asp5089=)
1g.19078042G>TCA338748274UBR4c.15258C>A (p.Asp5086Glu)
c.2379C>A (p.Asp793Glu)
c.483C>A (p.Asp161Glu)
n.3265C>A
c.15411C>A (p.Asp5137Glu)
c.15408C>A (p.Asp5136Glu)
c.15396C>A (p.Asp5132Glu)
c.15393C>A (p.Asp5131Glu)
c.15387C>A (p.Asp5129Glu)
c.15378C>A (p.Asp5126Glu)
c.15327C>A (p.Asp5109Glu)
c.15324C>A (p.Asp5108Glu)
c.15291C>A (p.Asp5097Glu)
c.15288C>A (p.Asp5096Glu)
c.15255C>A (p.Asp5085Glu)
c.15525C>A (p.Asp5175Glu)
c.15522C>A (p.Asp5174Glu)
c.15510C>A (p.Asp5170Glu)
c.15507C>A (p.Asp5169Glu)
c.15501C>A (p.Asp5167Glu)
c.15492C>A (p.Asp5164Glu)
c.15441C>A (p.Asp5147Glu)
c.15438C>A (p.Asp5146Glu)
c.15405C>A (p.Asp5135Glu)
c.15402C>A (p.Asp5134Glu)
c.15369C>A (p.Asp5123Glu)
c.15504C>A (p.Asp5168Glu)
c.15477C>A (p.Asp5159Glu)
c.15423C>A (p.Asp5141Glu)
c.15390C>A (p.Asp5130Glu)
c.15366C>A (p.Asp5122Glu)
c.15318C>A (p.Asp5106Glu)
c.15267C>A (p.Asp5089Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.19078043T>ACA338748276UBR4c.15257A>T (p.Asp5086Val)
c.2378A>T (p.Asp793Val)
c.482A>T (p.Asp161Val)
n.3264A>T
c.15410A>T (p.Asp5137Val)
c.15407A>T (p.Asp5136Val)
c.15395A>T (p.Asp5132Val)
c.15392A>T (p.Asp5131Val)
c.15386A>T (p.Asp5129Val)
c.15377A>T (p.Asp5126Val)
c.15326A>T (p.Asp5109Val)
c.15323A>T (p.Asp5108Val)
c.15290A>T (p.Asp5097Val)
c.15287A>T (p.Asp5096Val)
c.15254A>T (p.Asp5085Val)
c.15524A>T (p.Asp5175Val)
c.15521A>T (p.Asp5174Val)
c.15509A>T (p.Asp5170Val)
c.15506A>T (p.Asp5169Val)
c.15500A>T (p.Asp5167Val)
c.15491A>T (p.Asp5164Val)
c.15440A>T (p.Asp5147Val)
c.15437A>T (p.Asp5146Val)
c.15404A>T (p.Asp5135Val)
c.15401A>T (p.Asp5134Val)
c.15368A>T (p.Asp5123Val)
c.15503A>T (p.Asp5168Val)
c.15476A>T (p.Asp5159Val)
c.15422A>T (p.Asp5141Val)
c.15389A>T (p.Asp5130Val)
c.15365A>T (p.Asp5122Val)
c.15317A>T (p.Asp5106Val)
c.15266A>T (p.Asp5089Val)
1g.19078043T>CCA338748277UBR4c.15257A>G (p.Asp5086Gly)
c.2378A>G (p.Asp793Gly)
c.482A>G (p.Asp161Gly)
n.3264A>G
c.15410A>G (p.Asp5137Gly)
c.15407A>G (p.Asp5136Gly)
c.15395A>G (p.Asp5132Gly)
c.15392A>G (p.Asp5131Gly)
c.15386A>G (p.Asp5129Gly)
c.15377A>G (p.Asp5126Gly)
c.15326A>G (p.Asp5109Gly)
c.15323A>G (p.Asp5108Gly)
c.15290A>G (p.Asp5097Gly)
c.15287A>G (p.Asp5096Gly)
c.15254A>G (p.Asp5085Gly)
c.15524A>G (p.Asp5175Gly)
c.15521A>G (p.Asp5174Gly)
c.15509A>G (p.Asp5170Gly)
c.15506A>G (p.Asp5169Gly)
c.15500A>G (p.Asp5167Gly)
c.15491A>G (p.Asp5164Gly)
c.15440A>G (p.Asp5147Gly)
c.15437A>G (p.Asp5146Gly)
c.15404A>G (p.Asp5135Gly)
c.15401A>G (p.Asp5134Gly)
c.15368A>G (p.Asp5123Gly)
c.15503A>G (p.Asp5168Gly)
c.15476A>G (p.Asp5159Gly)
c.15422A>G (p.Asp5141Gly)
c.15389A>G (p.Asp5130Gly)
c.15365A>G (p.Asp5122Gly)
c.15317A>G (p.Asp5106Gly)
c.15266A>G (p.Asp5089Gly)
1g.19078043T>GCA338748280UBR4c.15257A>C (p.Asp5086Ala)
c.2378A>C (p.Asp793Ala)
c.482A>C (p.Asp161Ala)
n.3264A>C
c.15410A>C (p.Asp5137Ala)
c.15407A>C (p.Asp5136Ala)
c.15395A>C (p.Asp5132Ala)
c.15392A>C (p.Asp5131Ala)
c.15386A>C (p.Asp5129Ala)
c.15377A>C (p.Asp5126Ala)
c.15326A>C (p.Asp5109Ala)
c.15323A>C (p.Asp5108Ala)
c.15290A>C (p.Asp5097Ala)
c.15287A>C (p.Asp5096Ala)
c.15254A>C (p.Asp5085Ala)
c.15524A>C (p.Asp5175Ala)
c.15521A>C (p.Asp5174Ala)
c.15509A>C (p.Asp5170Ala)
c.15506A>C (p.Asp5169Ala)
c.15500A>C (p.Asp5167Ala)
c.15491A>C (p.Asp5164Ala)
c.15440A>C (p.Asp5147Ala)
c.15437A>C (p.Asp5146Ala)
c.15404A>C (p.Asp5135Ala)
c.15401A>C (p.Asp5134Ala)
c.15368A>C (p.Asp5123Ala)
c.15503A>C (p.Asp5168Ala)
c.15476A>C (p.Asp5159Ala)
c.15422A>C (p.Asp5141Ala)
c.15389A>C (p.Asp5130Ala)
c.15365A>C (p.Asp5122Ala)
c.15317A>C (p.Asp5106Ala)
c.15266A>C (p.Asp5089Ala)
1g.19078044C>ACA338748282UBR4c.15256G>T (p.Asp5086Tyr)
c.2377G>T (p.Asp793Tyr)
c.481G>T (p.Asp161Tyr)
n.3263G>T
c.15409G>T (p.Asp5137Tyr)
c.15406G>T (p.Asp5136Tyr)
c.15394G>T (p.Asp5132Tyr)
c.15391G>T (p.Asp5131Tyr)
c.15385G>T (p.Asp5129Tyr)
c.15376G>T (p.Asp5126Tyr)
c.15325G>T (p.Asp5109Tyr)
c.15322G>T (p.Asp5108Tyr)
c.15289G>T (p.Asp5097Tyr)
c.15286G>T (p.Asp5096Tyr)
c.15253G>T (p.Asp5085Tyr)
c.15523G>T (p.Asp5175Tyr)
c.15520G>T (p.Asp5174Tyr)
c.15508G>T (p.Asp5170Tyr)
c.15505G>T (p.Asp5169Tyr)
c.15499G>T (p.Asp5167Tyr)
c.15490G>T (p.Asp5164Tyr)
c.15439G>T (p.Asp5147Tyr)
c.15436G>T (p.Asp5146Tyr)
c.15403G>T (p.Asp5135Tyr)
c.15400G>T (p.Asp5134Tyr)
c.15367G>T (p.Asp5123Tyr)
c.15502G>T (p.Asp5168Tyr)
c.15475G>T (p.Asp5159Tyr)
c.15421G>T (p.Asp5141Tyr)
c.15388G>T (p.Asp5130Tyr)
c.15364G>T (p.Asp5122Tyr)
c.15316G>T (p.Asp5106Tyr)
c.15265G>T (p.Asp5089Tyr)
1g.19078044C=CA1142037190UBR4c.15256G= (p.Asp5086=)
c.2377G= (p.Asp793=)
c.481G= (p.Asp161=)
n.3263G=
c.15409G= (p.Asp5137=)
c.15406G= (p.Asp5136=)
c.15394G= (p.Asp5132=)
c.15391G= (p.Asp5131=)
c.15385G= (p.Asp5129=)
c.15376G= (p.Asp5126=)
c.15325G= (p.Asp5109=)
c.15322G= (p.Asp5108=)
c.15289G= (p.Asp5097=)
c.15286G= (p.Asp5096=)
c.15253G= (p.Asp5085=)
c.15523G= (p.Asp5175=)
c.15520G= (p.Asp5174=)
c.15508G= (p.Asp5170=)
c.15505G= (p.Asp5169=)
c.15499G= (p.Asp5167=)
c.15490G= (p.Asp5164=)
c.15439G= (p.Asp5147=)
c.15436G= (p.Asp5146=)
c.15403G= (p.Asp5135=)
c.15400G= (p.Asp5134=)
c.15367G= (p.Asp5123=)
c.15502G= (p.Asp5168=)
c.15475G= (p.Asp5159=)
c.15421G= (p.Asp5141=)
c.15388G= (p.Asp5130=)
c.15364G= (p.Asp5122=)
c.15316G= (p.Asp5106=)
c.15265G= (p.Asp5089=)
1g.19078044C>GCA338748284UBR4c.15256G>C (p.Asp5086His)
c.2377G>C (p.Asp793His)
c.481G>C (p.Asp161His)
n.3263G>C
c.15409G>C (p.Asp5137His)
c.15406G>C (p.Asp5136His)
c.15394G>C (p.Asp5132His)
c.15391G>C (p.Asp5131His)
c.15385G>C (p.Asp5129His)
c.15376G>C (p.Asp5126His)
c.15325G>C (p.Asp5109His)
c.15322G>C (p.Asp5108His)
c.15289G>C (p.Asp5097His)
c.15286G>C (p.Asp5096His)
c.15253G>C (p.Asp5085His)
c.15523G>C (p.Asp5175His)
c.15520G>C (p.Asp5174His)
c.15508G>C (p.Asp5170His)
c.15505G>C (p.Asp5169His)
c.15499G>C (p.Asp5167His)
c.15490G>C (p.Asp5164His)
c.15439G>C (p.Asp5147His)
c.15436G>C (p.Asp5146His)
c.15403G>C (p.Asp5135His)
c.15400G>C (p.Asp5134His)
c.15367G>C (p.Asp5123His)
c.15502G>C (p.Asp5168His)
c.15475G>C (p.Asp5159His)
c.15421G>C (p.Asp5141His)
c.15388G>C (p.Asp5130His)
c.15364G>C (p.Asp5122His)
c.15316G>C (p.Asp5106His)
c.15265G>C (p.Asp5089His)
1g.19078044C>TCA18791074UBR4c.15256G>A (p.Asp5086Asn)
c.2377G>A (p.Asp793Asn)
c.481G>A (p.Asp161Asn)
n.3263G>A
c.15409G>A (p.Asp5137Asn)
c.15406G>A (p.Asp5136Asn)
c.15394G>A (p.Asp5132Asn)
c.15391G>A (p.Asp5131Asn)
c.15385G>A (p.Asp5129Asn)
c.15376G>A (p.Asp5126Asn)
c.15325G>A (p.Asp5109Asn)
c.15322G>A (p.Asp5108Asn)
c.15289G>A (p.Asp5097Asn)
c.15286G>A (p.Asp5096Asn)
c.15253G>A (p.Asp5085Asn)
c.15523G>A (p.Asp5175Asn)
c.15520G>A (p.Asp5174Asn)
c.15508G>A (p.Asp5170Asn)
c.15505G>A (p.Asp5169Asn)
c.15499G>A (p.Asp5167Asn)
c.15490G>A (p.Asp5164Asn)
c.15439G>A (p.Asp5147Asn)
c.15436G>A (p.Asp5146Asn)
c.15403G>A (p.Asp5135Asn)
c.15400G>A (p.Asp5134Asn)
c.15367G>A (p.Asp5123Asn)
c.15502G>A (p.Asp5168Asn)
c.15475G>A (p.Asp5159Asn)
c.15421G>A (p.Asp5141Asn)
c.15388G>A (p.Asp5130Asn)
c.15364G>A (p.Asp5122Asn)
c.15316G>A (p.Asp5106Asn)
c.15265G>A (p.Asp5089Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.19078045C>ACA338748287UBR4c.15255G>T (p.Lys5085Asn)
c.2376G>T (p.Lys792Asn)
c.480G>T (p.Lys160Asn)
n.3262G>T
c.15408G>T (p.Lys5136Asn)
c.15405G>T (p.Lys5135Asn)
c.15393G>T (p.Lys5131Asn)
c.15390G>T (p.Lys5130Asn)
c.15384G>T (p.Lys5128Asn)
c.15375G>T (p.Lys5125Asn)
c.15324G>T (p.Lys5108Asn)
c.15321G>T (p.Lys5107Asn)
c.15288G>T (p.Lys5096Asn)
c.15285G>T (p.Lys5095Asn)
c.15252G>T (p.Lys5084Asn)
c.15522G>T (p.Lys5174Asn)
c.15519G>T (p.Lys5173Asn)
c.15507G>T (p.Lys5169Asn)
c.15504G>T (p.Lys5168Asn)
c.15498G>T (p.Lys5166Asn)
c.15489G>T (p.Lys5163Asn)
c.15438G>T (p.Lys5146Asn)
c.15435G>T (p.Lys5145Asn)
c.15402G>T (p.Lys5134Asn)
c.15399G>T (p.Lys5133Asn)
c.15366G>T (p.Lys5122Asn)
c.15501G>T (p.Lys5167Asn)
c.15474G>T (p.Lys5158Asn)
c.15420G>T (p.Lys5140Asn)
c.15387G>T (p.Lys5129Asn)
c.15363G>T (p.Lys5121Asn)
c.15315G>T (p.Lys5105Asn)
c.15264G>T (p.Lys5088Asn)
1g.19078045C>GCA338748289UBR4c.15255G>C (p.Lys5085Asn)
c.2376G>C (p.Lys792Asn)
c.480G>C (p.Lys160Asn)
n.3262G>C
c.15408G>C (p.Lys5136Asn)
c.15405G>C (p.Lys5135Asn)
c.15393G>C (p.Lys5131Asn)
c.15390G>C (p.Lys5130Asn)
c.15384G>C (p.Lys5128Asn)
c.15375G>C (p.Lys5125Asn)
c.15324G>C (p.Lys5108Asn)
c.15321G>C (p.Lys5107Asn)
c.15288G>C (p.Lys5096Asn)
c.15285G>C (p.Lys5095Asn)
c.15252G>C (p.Lys5084Asn)
c.15522G>C (p.Lys5174Asn)
c.15519G>C (p.Lys5173Asn)
c.15507G>C (p.Lys5169Asn)
c.15504G>C (p.Lys5168Asn)
c.15498G>C (p.Lys5166Asn)
c.15489G>C (p.Lys5163Asn)
c.15438G>C (p.Lys5146Asn)
c.15435G>C (p.Lys5145Asn)
c.15402G>C (p.Lys5134Asn)
c.15399G>C (p.Lys5133Asn)
c.15366G>C (p.Lys5122Asn)
c.15501G>C (p.Lys5167Asn)
c.15474G>C (p.Lys5158Asn)
c.15420G>C (p.Lys5140Asn)
c.15387G>C (p.Lys5129Asn)
c.15363G>C (p.Lys5121Asn)
c.15315G>C (p.Lys5105Asn)
c.15264G>C (p.Lys5088Asn)
1g.19078045C>TCA416453162UBR4c.15255G>A (p.Lys5085=)
c.2376G>A (p.Lys792=)
c.480G>A (p.Lys160=)
n.3262G>A
c.15408G>A (p.Lys5136=)
c.15405G>A (p.Lys5135=)
c.15393G>A (p.Lys5131=)
c.15390G>A (p.Lys5130=)
c.15384G>A (p.Lys5128=)
c.15375G>A (p.Lys5125=)
c.15324G>A (p.Lys5108=)
c.15321G>A (p.Lys5107=)
c.15288G>A (p.Lys5096=)
c.15285G>A (p.Lys5095=)
c.15252G>A (p.Lys5084=)
c.15522G>A (p.Lys5174=)
c.15519G>A (p.Lys5173=)
c.15507G>A (p.Lys5169=)
c.15504G>A (p.Lys5168=)
c.15498G>A (p.Lys5166=)
c.15489G>A (p.Lys5163=)
c.15438G>A (p.Lys5146=)
c.15435G>A (p.Lys5145=)
c.15402G>A (p.Lys5134=)
c.15399G>A (p.Lys5133=)
c.15366G>A (p.Lys5122=)
c.15501G>A (p.Lys5167=)
c.15474G>A (p.Lys5158=)
c.15420G>A (p.Lys5140=)
c.15387G>A (p.Lys5129=)
c.15363G>A (p.Lys5121=)
c.15315G>A (p.Lys5105=)
c.15264G>A (p.Lys5088=)
1g.19078046T>ACA338748292UBR4c.15254A>T (p.Lys5085Met)
c.2375A>T (p.Lys792Met)
c.479A>T (p.Lys160Met)
n.3261A>T
c.15407A>T (p.Lys5136Met)
c.15404A>T (p.Lys5135Met)
c.15392A>T (p.Lys5131Met)
c.15389A>T (p.Lys5130Met)
c.15383A>T (p.Lys5128Met)
c.15374A>T (p.Lys5125Met)
c.15323A>T (p.Lys5108Met)
c.15320A>T (p.Lys5107Met)
c.15287A>T (p.Lys5096Met)
c.15284A>T (p.Lys5095Met)
c.15251A>T (p.Lys5084Met)
c.15521A>T (p.Lys5174Met)
c.15518A>T (p.Lys5173Met)
c.15506A>T (p.Lys5169Met)
c.15503A>T (p.Lys5168Met)
c.15497A>T (p.Lys5166Met)
c.15488A>T (p.Lys5163Met)
c.15437A>T (p.Lys5146Met)
c.15434A>T (p.Lys5145Met)
c.15401A>T (p.Lys5134Met)
c.15398A>T (p.Lys5133Met)
c.15365A>T (p.Lys5122Met)
c.15500A>T (p.Lys5167Met)
c.15473A>T (p.Lys5158Met)
c.15419A>T (p.Lys5140Met)
c.15386A>T (p.Lys5129Met)
c.15362A>T (p.Lys5121Met)
c.15314A>T (p.Lys5105Met)
c.15263A>T (p.Lys5088Met)
1g.19078046T>CCA647924UBR4c.15254A>G (p.Lys5085Arg)
c.2375A>G (p.Lys792Arg)
c.479A>G (p.Lys160Arg)
n.3261A>G
c.15407A>G (p.Lys5136Arg)
c.15404A>G (p.Lys5135Arg)
c.15392A>G (p.Lys5131Arg)
c.15389A>G (p.Lys5130Arg)
c.15383A>G (p.Lys5128Arg)
c.15374A>G (p.Lys5125Arg)
c.15323A>G (p.Lys5108Arg)
c.15320A>G (p.Lys5107Arg)
c.15287A>G (p.Lys5096Arg)
c.15284A>G (p.Lys5095Arg)
c.15251A>G (p.Lys5084Arg)
c.15521A>G (p.Lys5174Arg)
c.15518A>G (p.Lys5173Arg)
c.15506A>G (p.Lys5169Arg)
c.15503A>G (p.Lys5168Arg)
c.15497A>G (p.Lys5166Arg)
c.15488A>G (p.Lys5163Arg)
c.15437A>G (p.Lys5146Arg)
c.15434A>G (p.Lys5145Arg)
c.15401A>G (p.Lys5134Arg)
c.15398A>G (p.Lys5133Arg)
c.15365A>G (p.Lys5122Arg)
c.15500A>G (p.Lys5167Arg)
c.15473A>G (p.Lys5158Arg)
c.15419A>G (p.Lys5140Arg)
c.15386A>G (p.Lys5129Arg)
c.15362A>G (p.Lys5121Arg)
c.15314A>G (p.Lys5105Arg)
c.15263A>G (p.Lys5088Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078046T>GCA338748293UBR4c.15254A>C (p.Lys5085Thr)
c.2375A>C (p.Lys792Thr)
c.479A>C (p.Lys160Thr)
n.3261A>C
c.15407A>C (p.Lys5136Thr)
c.15404A>C (p.Lys5135Thr)
c.15392A>C (p.Lys5131Thr)
c.15389A>C (p.Lys5130Thr)
c.15383A>C (p.Lys5128Thr)
c.15374A>C (p.Lys5125Thr)
c.15323A>C (p.Lys5108Thr)
c.15320A>C (p.Lys5107Thr)
c.15287A>C (p.Lys5096Thr)
c.15284A>C (p.Lys5095Thr)
c.15251A>C (p.Lys5084Thr)
c.15521A>C (p.Lys5174Thr)
c.15518A>C (p.Lys5173Thr)
c.15506A>C (p.Lys5169Thr)
c.15503A>C (p.Lys5168Thr)
c.15497A>C (p.Lys5166Thr)
c.15488A>C (p.Lys5163Thr)
c.15437A>C (p.Lys5146Thr)
c.15434A>C (p.Lys5145Thr)
c.15401A>C (p.Lys5134Thr)
c.15398A>C (p.Lys5133Thr)
c.15365A>C (p.Lys5122Thr)
c.15500A>C (p.Lys5167Thr)
c.15473A>C (p.Lys5158Thr)
c.15419A>C (p.Lys5140Thr)
c.15386A>C (p.Lys5129Thr)
c.15362A>C (p.Lys5121Thr)
c.15314A>C (p.Lys5105Thr)
c.15263A>C (p.Lys5088Thr)
 gnomAD v4
1g.19078046T=CA1156956086UBR4c.15254A= (p.Lys5085=)
c.2375A= (p.Lys792=)
c.479A= (p.Lys160=)
n.3261A=
c.15407A= (p.Lys5136=)
c.15404A= (p.Lys5135=)
c.15392A= (p.Lys5131=)
c.15389A= (p.Lys5130=)
c.15383A= (p.Lys5128=)
c.15374A= (p.Lys5125=)
c.15323A= (p.Lys5108=)
c.15320A= (p.Lys5107=)
c.15287A= (p.Lys5096=)
c.15284A= (p.Lys5095=)
c.15251A= (p.Lys5084=)
c.15521A= (p.Lys5174=)
c.15518A= (p.Lys5173=)
c.15506A= (p.Lys5169=)
c.15503A= (p.Lys5168=)
c.15497A= (p.Lys5166=)
c.15488A= (p.Lys5163=)
c.15437A= (p.Lys5146=)
c.15434A= (p.Lys5145=)
c.15401A= (p.Lys5134=)
c.15398A= (p.Lys5133=)
c.15365A= (p.Lys5122=)
c.15500A= (p.Lys5167=)
c.15473A= (p.Lys5158=)
c.15419A= (p.Lys5140=)
c.15386A= (p.Lys5129=)
c.15362A= (p.Lys5121=)
c.15314A= (p.Lys5105=)
c.15263A= (p.Lys5088=)
1g.19078047T>ACA338748296UBR4c.15253A>T (p.Lys5085Ter)
c.2374A>T (p.Lys792Ter)
c.478A>T (p.Lys160Ter)
n.3260A>T
c.15406A>T (p.Lys5136Ter)
c.15403A>T (p.Lys5135Ter)
c.15391A>T (p.Lys5131Ter)
c.15388A>T (p.Lys5130Ter)
c.15382A>T (p.Lys5128Ter)
c.15373A>T (p.Lys5125Ter)
c.15322A>T (p.Lys5108Ter)
c.15319A>T (p.Lys5107Ter)
c.15286A>T (p.Lys5096Ter)
c.15283A>T (p.Lys5095Ter)
c.15250A>T (p.Lys5084Ter)
c.15520A>T (p.Lys5174Ter)
c.15517A>T (p.Lys5173Ter)
c.15505A>T (p.Lys5169Ter)
c.15502A>T (p.Lys5168Ter)
c.15496A>T (p.Lys5166Ter)
c.15487A>T (p.Lys5163Ter)
c.15436A>T (p.Lys5146Ter)
c.15433A>T (p.Lys5145Ter)
c.15400A>T (p.Lys5134Ter)
c.15397A>T (p.Lys5133Ter)
c.15364A>T (p.Lys5122Ter)
c.15499A>T (p.Lys5167Ter)
c.15472A>T (p.Lys5158Ter)
c.15418A>T (p.Lys5140Ter)
c.15385A>T (p.Lys5129Ter)
c.15361A>T (p.Lys5121Ter)
c.15313A>T (p.Lys5105Ter)
c.15262A>T (p.Lys5088Ter)
1g.19078047T>CCA338748298UBR4c.15253A>G (p.Lys5085Glu)
c.2374A>G (p.Lys792Glu)
c.478A>G (p.Lys160Glu)
n.3260A>G
c.15406A>G (p.Lys5136Glu)
c.15403A>G (p.Lys5135Glu)
c.15391A>G (p.Lys5131Glu)
c.15388A>G (p.Lys5130Glu)
c.15382A>G (p.Lys5128Glu)
c.15373A>G (p.Lys5125Glu)
c.15322A>G (p.Lys5108Glu)
c.15319A>G (p.Lys5107Glu)
c.15286A>G (p.Lys5096Glu)
c.15283A>G (p.Lys5095Glu)
c.15250A>G (p.Lys5084Glu)
c.15520A>G (p.Lys5174Glu)
c.15517A>G (p.Lys5173Glu)
c.15505A>G (p.Lys5169Glu)
c.15502A>G (p.Lys5168Glu)
c.15496A>G (p.Lys5166Glu)
c.15487A>G (p.Lys5163Glu)
c.15436A>G (p.Lys5146Glu)
c.15433A>G (p.Lys5145Glu)
c.15400A>G (p.Lys5134Glu)
c.15397A>G (p.Lys5133Glu)
c.15364A>G (p.Lys5122Glu)
c.15499A>G (p.Lys5167Glu)
c.15472A>G (p.Lys5158Glu)
c.15418A>G (p.Lys5140Glu)
c.15385A>G (p.Lys5129Glu)
c.15361A>G (p.Lys5121Glu)
c.15313A>G (p.Lys5105Glu)
c.15262A>G (p.Lys5088Glu)
1g.19078047T>GCA338748297UBR4c.15253A>C (p.Lys5085Gln)
c.2374A>C (p.Lys792Gln)
c.478A>C (p.Lys160Gln)
n.3260A>C
c.15406A>C (p.Lys5136Gln)
c.15403A>C (p.Lys5135Gln)
c.15391A>C (p.Lys5131Gln)
c.15388A>C (p.Lys5130Gln)
c.15382A>C (p.Lys5128Gln)
c.15373A>C (p.Lys5125Gln)
c.15322A>C (p.Lys5108Gln)
c.15319A>C (p.Lys5107Gln)
c.15286A>C (p.Lys5096Gln)
c.15283A>C (p.Lys5095Gln)
c.15250A>C (p.Lys5084Gln)
c.15520A>C (p.Lys5174Gln)
c.15517A>C (p.Lys5173Gln)
c.15505A>C (p.Lys5169Gln)
c.15502A>C (p.Lys5168Gln)
c.15496A>C (p.Lys5166Gln)
c.15487A>C (p.Lys5163Gln)
c.15436A>C (p.Lys5146Gln)
c.15433A>C (p.Lys5145Gln)
c.15400A>C (p.Lys5134Gln)
c.15397A>C (p.Lys5133Gln)
c.15364A>C (p.Lys5122Gln)
c.15499A>C (p.Lys5167Gln)
c.15472A>C (p.Lys5158Gln)
c.15418A>C (p.Lys5140Gln)
c.15385A>C (p.Lys5129Gln)
c.15361A>C (p.Lys5121Gln)
c.15313A>C (p.Lys5105Gln)
c.15262A>C (p.Lys5088Gln)
1g.19078048C>ACA416453163UBR4c.15252G>T (p.Val5084=)
c.2373G>T (p.Val791=)
c.477G>T (p.Val159=)
n.3259G>T
c.15405G>T (p.Val5135=)
c.15402G>T (p.Val5134=)
c.15390G>T (p.Val5130=)
c.15387G>T (p.Val5129=)
c.15381G>T (p.Val5127=)
c.15372G>T (p.Val5124=)
c.15321G>T (p.Val5107=)
c.15318G>T (p.Val5106=)
c.15285G>T (p.Val5095=)
c.15282G>T (p.Val5094=)
c.15249G>T (p.Val5083=)
c.15519G>T (p.Val5173=)
c.15516G>T (p.Val5172=)
c.15504G>T (p.Val5168=)
c.15501G>T (p.Val5167=)
c.15495G>T (p.Val5165=)
c.15486G>T (p.Val5162=)
c.15435G>T (p.Val5145=)
c.15432G>T (p.Val5144=)
c.15399G>T (p.Val5133=)
c.15396G>T (p.Val5132=)
c.15363G>T (p.Val5121=)
c.15498G>T (p.Val5166=)
c.15471G>T (p.Val5157=)
c.15417G>T (p.Val5139=)
c.15384G>T (p.Val5128=)
c.15360G>T (p.Val5120=)
c.15312G>T (p.Val5104=)
c.15261G>T (p.Val5087=)
1g.19078048C>GCA416453164UBR4c.15252G>C (p.Val5084=)
c.2373G>C (p.Val791=)
c.477G>C (p.Val159=)
n.3259G>C
c.15405G>C (p.Val5135=)
c.15402G>C (p.Val5134=)
c.15390G>C (p.Val5130=)
c.15387G>C (p.Val5129=)
c.15381G>C (p.Val5127=)
c.15372G>C (p.Val5124=)
c.15321G>C (p.Val5107=)
c.15318G>C (p.Val5106=)
c.15285G>C (p.Val5095=)
c.15282G>C (p.Val5094=)
c.15249G>C (p.Val5083=)
c.15519G>C (p.Val5173=)
c.15516G>C (p.Val5172=)
c.15504G>C (p.Val5168=)
c.15501G>C (p.Val5167=)
c.15495G>C (p.Val5165=)
c.15486G>C (p.Val5162=)
c.15435G>C (p.Val5145=)
c.15432G>C (p.Val5144=)
c.15399G>C (p.Val5133=)
c.15396G>C (p.Val5132=)
c.15363G>C (p.Val5121=)
c.15498G>C (p.Val5166=)
c.15471G>C (p.Val5157=)
c.15417G>C (p.Val5139=)
c.15384G>C (p.Val5128=)
c.15360G>C (p.Val5120=)
c.15312G>C (p.Val5104=)
c.15261G>C (p.Val5087=)
1g.19078048C>TCA416453165UBR4c.15252G>A (p.Val5084=)
c.2373G>A (p.Val791=)
c.477G>A (p.Val159=)
n.3259G>A
c.15405G>A (p.Val5135=)
c.15402G>A (p.Val5134=)
c.15390G>A (p.Val5130=)
c.15387G>A (p.Val5129=)
c.15381G>A (p.Val5127=)
c.15372G>A (p.Val5124=)
c.15321G>A (p.Val5107=)
c.15318G>A (p.Val5106=)
c.15285G>A (p.Val5095=)
c.15282G>A (p.Val5094=)
c.15249G>A (p.Val5083=)
c.15519G>A (p.Val5173=)
c.15516G>A (p.Val5172=)
c.15504G>A (p.Val5168=)
c.15501G>A (p.Val5167=)
c.15495G>A (p.Val5165=)
c.15486G>A (p.Val5162=)
c.15435G>A (p.Val5145=)
c.15432G>A (p.Val5144=)
c.15399G>A (p.Val5133=)
c.15396G>A (p.Val5132=)
c.15363G>A (p.Val5121=)
c.15498G>A (p.Val5166=)
c.15471G>A (p.Val5157=)
c.15417G>A (p.Val5139=)
c.15384G>A (p.Val5128=)
c.15360G>A (p.Val5120=)
c.15312G>A (p.Val5104=)
c.15261G>A (p.Val5087=)
1g.19078049A>CCA338748301UBR4c.15251T>G (p.Val5084Gly)
c.2372T>G (p.Val791Gly)
c.476T>G (p.Val159Gly)
n.3258T>G
c.15404T>G (p.Val5135Gly)
c.15401T>G (p.Val5134Gly)
c.15389T>G (p.Val5130Gly)
c.15386T>G (p.Val5129Gly)
c.15380T>G (p.Val5127Gly)
c.15371T>G (p.Val5124Gly)
c.15320T>G (p.Val5107Gly)
c.15317T>G (p.Val5106Gly)
c.15284T>G (p.Val5095Gly)
c.15281T>G (p.Val5094Gly)
c.15248T>G (p.Val5083Gly)
c.15518T>G (p.Val5173Gly)
c.15515T>G (p.Val5172Gly)
c.15503T>G (p.Val5168Gly)
c.15500T>G (p.Val5167Gly)
c.15494T>G (p.Val5165Gly)
c.15485T>G (p.Val5162Gly)
c.15434T>G (p.Val5145Gly)
c.15431T>G (p.Val5144Gly)
c.15398T>G (p.Val5133Gly)
c.15395T>G (p.Val5132Gly)
c.15362T>G (p.Val5121Gly)
c.15497T>G (p.Val5166Gly)
c.15470T>G (p.Val5157Gly)
c.15416T>G (p.Val5139Gly)
c.15383T>G (p.Val5128Gly)
c.15359T>G (p.Val5120Gly)
c.15311T>G (p.Val5104Gly)
c.15260T>G (p.Val5087Gly)
 gnomAD v4
1g.19078049A>GCA338748302UBR4c.15251T>C (p.Val5084Ala)
c.2372T>C (p.Val791Ala)
c.476T>C (p.Val159Ala)
n.3258T>C
c.15404T>C (p.Val5135Ala)
c.15401T>C (p.Val5134Ala)
c.15389T>C (p.Val5130Ala)
c.15386T>C (p.Val5129Ala)
c.15380T>C (p.Val5127Ala)
c.15371T>C (p.Val5124Ala)
c.15320T>C (p.Val5107Ala)
c.15317T>C (p.Val5106Ala)
c.15284T>C (p.Val5095Ala)
c.15281T>C (p.Val5094Ala)
c.15248T>C (p.Val5083Ala)
c.15518T>C (p.Val5173Ala)
c.15515T>C (p.Val5172Ala)
c.15503T>C (p.Val5168Ala)
c.15500T>C (p.Val5167Ala)
c.15494T>C (p.Val5165Ala)
c.15485T>C (p.Val5162Ala)
c.15434T>C (p.Val5145Ala)
c.15431T>C (p.Val5144Ala)
c.15398T>C (p.Val5133Ala)
c.15395T>C (p.Val5132Ala)
c.15362T>C (p.Val5121Ala)
c.15497T>C (p.Val5166Ala)
c.15470T>C (p.Val5157Ala)
c.15416T>C (p.Val5139Ala)
c.15383T>C (p.Val5128Ala)
c.15359T>C (p.Val5120Ala)
c.15311T>C (p.Val5104Ala)
c.15260T>C (p.Val5087Ala)
1g.19078049A>TCA338748303UBR4c.15251T>A (p.Val5084Glu)
c.2372T>A (p.Val791Glu)
c.476T>A (p.Val159Glu)
n.3258T>A
c.15404T>A (p.Val5135Glu)
c.15401T>A (p.Val5134Glu)
c.15389T>A (p.Val5130Glu)
c.15386T>A (p.Val5129Glu)
c.15380T>A (p.Val5127Glu)
c.15371T>A (p.Val5124Glu)
c.15320T>A (p.Val5107Glu)
c.15317T>A (p.Val5106Glu)
c.15284T>A (p.Val5095Glu)
c.15281T>A (p.Val5094Glu)
c.15248T>A (p.Val5083Glu)
c.15518T>A (p.Val5173Glu)
c.15515T>A (p.Val5172Glu)
c.15503T>A (p.Val5168Glu)
c.15500T>A (p.Val5167Glu)
c.15494T>A (p.Val5165Glu)
c.15485T>A (p.Val5162Glu)
c.15434T>A (p.Val5145Glu)
c.15431T>A (p.Val5144Glu)
c.15398T>A (p.Val5133Glu)
c.15395T>A (p.Val5132Glu)
c.15362T>A (p.Val5121Glu)
c.15497T>A (p.Val5166Glu)
c.15470T>A (p.Val5157Glu)
c.15416T>A (p.Val5139Glu)
c.15383T>A (p.Val5128Glu)
c.15359T>A (p.Val5120Glu)
c.15311T>A (p.Val5104Glu)
c.15260T>A (p.Val5087Glu)
1g.19078050C>ACA338748305UBR4c.15250G>T (p.Val5084Leu)
c.2371G>T (p.Val791Leu)
c.475G>T (p.Val159Leu)
n.3257G>T
c.15403G>T (p.Val5135Leu)
c.15400G>T (p.Val5134Leu)
c.15388G>T (p.Val5130Leu)
c.15385G>T (p.Val5129Leu)
c.15379G>T (p.Val5127Leu)
c.15370G>T (p.Val5124Leu)
c.15319G>T (p.Val5107Leu)
c.15316G>T (p.Val5106Leu)
c.15283G>T (p.Val5095Leu)
c.15280G>T (p.Val5094Leu)
c.15247G>T (p.Val5083Leu)
c.15517G>T (p.Val5173Leu)
c.15514G>T (p.Val5172Leu)
c.15502G>T (p.Val5168Leu)
c.15499G>T (p.Val5167Leu)
c.15493G>T (p.Val5165Leu)
c.15484G>T (p.Val5162Leu)
c.15433G>T (p.Val5145Leu)
c.15430G>T (p.Val5144Leu)
c.15397G>T (p.Val5133Leu)
c.15394G>T (p.Val5132Leu)
c.15361G>T (p.Val5121Leu)
c.15496G>T (p.Val5166Leu)
c.15469G>T (p.Val5157Leu)
c.15415G>T (p.Val5139Leu)
c.15382G>T (p.Val5128Leu)
c.15358G>T (p.Val5120Leu)
c.15310G>T (p.Val5104Leu)
c.15259G>T (p.Val5087Leu)
1g.19078050C=CA1139925417UBR4c.15250G= (p.Val5084=)
c.2371G= (p.Val791=)
c.475G= (p.Val159=)
n.3257G=
c.15403G= (p.Val5135=)
c.15400G= (p.Val5134=)
c.15388G= (p.Val5130=)
c.15385G= (p.Val5129=)
c.15379G= (p.Val5127=)
c.15370G= (p.Val5124=)
c.15319G= (p.Val5107=)
c.15316G= (p.Val5106=)
c.15283G= (p.Val5095=)
c.15280G= (p.Val5094=)
c.15247G= (p.Val5083=)
c.15517G= (p.Val5173=)
c.15514G= (p.Val5172=)
c.15502G= (p.Val5168=)
c.15499G= (p.Val5167=)
c.15493G= (p.Val5165=)
c.15484G= (p.Val5162=)
c.15433G= (p.Val5145=)
c.15430G= (p.Val5144=)
c.15397G= (p.Val5133=)
c.15394G= (p.Val5132=)
c.15361G= (p.Val5121=)
c.15496G= (p.Val5166=)
c.15469G= (p.Val5157=)
c.15415G= (p.Val5139=)
c.15382G= (p.Val5128=)
c.15358G= (p.Val5120=)
c.15310G= (p.Val5104=)
c.15259G= (p.Val5087=)
1g.19078050C>GCA338748307UBR4c.15250G>C (p.Val5084Leu)
c.2371G>C (p.Val791Leu)
c.475G>C (p.Val159Leu)
n.3257G>C
c.15403G>C (p.Val5135Leu)
c.15400G>C (p.Val5134Leu)
c.15388G>C (p.Val5130Leu)
c.15385G>C (p.Val5129Leu)
c.15379G>C (p.Val5127Leu)
c.15370G>C (p.Val5124Leu)
c.15319G>C (p.Val5107Leu)
c.15316G>C (p.Val5106Leu)
c.15283G>C (p.Val5095Leu)
c.15280G>C (p.Val5094Leu)
c.15247G>C (p.Val5083Leu)
c.15517G>C (p.Val5173Leu)
c.15514G>C (p.Val5172Leu)
c.15502G>C (p.Val5168Leu)
c.15499G>C (p.Val5167Leu)
c.15493G>C (p.Val5165Leu)
c.15484G>C (p.Val5162Leu)
c.15433G>C (p.Val5145Leu)
c.15430G>C (p.Val5144Leu)
c.15397G>C (p.Val5133Leu)
c.15394G>C (p.Val5132Leu)
c.15361G>C (p.Val5121Leu)
c.15496G>C (p.Val5166Leu)
c.15469G>C (p.Val5157Leu)
c.15415G>C (p.Val5139Leu)
c.15382G>C (p.Val5128Leu)
c.15358G>C (p.Val5120Leu)
c.15310G>C (p.Val5104Leu)
c.15259G>C (p.Val5087Leu)
1g.19078050C>TCA647925UBR4c.15250G>A (p.Val5084Met)
c.2371G>A (p.Val791Met)
c.475G>A (p.Val159Met)
n.3257G>A
c.15403G>A (p.Val5135Met)
c.15400G>A (p.Val5134Met)
c.15388G>A (p.Val5130Met)
c.15385G>A (p.Val5129Met)
c.15379G>A (p.Val5127Met)
c.15370G>A (p.Val5124Met)
c.15319G>A (p.Val5107Met)
c.15316G>A (p.Val5106Met)
c.15283G>A (p.Val5095Met)
c.15280G>A (p.Val5094Met)
c.15247G>A (p.Val5083Met)
c.15517G>A (p.Val5173Met)
c.15514G>A (p.Val5172Met)
c.15502G>A (p.Val5168Met)
c.15499G>A (p.Val5167Met)
c.15493G>A (p.Val5165Met)
c.15484G>A (p.Val5162Met)
c.15433G>A (p.Val5145Met)
c.15430G>A (p.Val5144Met)
c.15397G>A (p.Val5133Met)
c.15394G>A (p.Val5132Met)
c.15361G>A (p.Val5121Met)
c.15496G>A (p.Val5166Met)
c.15469G>A (p.Val5157Met)
c.15415G>A (p.Val5139Met)
c.15382G>A (p.Val5128Met)
c.15358G>A (p.Val5120Met)
c.15310G>A (p.Val5104Met)
c.15259G>A (p.Val5087Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.19078051T>ACA416453168UBR4c.15249A>T (p.Ala5083=)
c.2370A>T (p.Ala790=)
c.474A>T (p.Ala158=)
n.3256A>T
c.15402A>T (p.Ala5134=)
c.15399A>T (p.Ala5133=)
c.15387A>T (p.Ala5129=)
c.15384A>T (p.Ala5128=)
c.15378A>T (p.Ala5126=)
c.15369A>T (p.Ala5123=)
c.15318A>T (p.Ala5106=)
c.15315A>T (p.Ala5105=)
c.15282A>T (p.Ala5094=)
c.15279A>T (p.Ala5093=)
c.15246A>T (p.Ala5082=)
c.15516A>T (p.Ala5172=)
c.15513A>T (p.Ala5171=)
c.15501A>T (p.Ala5167=)
c.15498A>T (p.Ala5166=)
c.15492A>T (p.Ala5164=)
c.15483A>T (p.Ala5161=)
c.15432A>T (p.Ala5144=)
c.15429A>T (p.Ala5143=)
c.15396A>T (p.Ala5132=)
c.15393A>T (p.Ala5131=)
c.15360A>T (p.Ala5120=)
c.15495A>T (p.Ala5165=)
c.15468A>T (p.Ala5156=)
c.15414A>T (p.Ala5138=)
c.15381A>T (p.Ala5127=)
c.15357A>T (p.Ala5119=)
c.15309A>T (p.Ala5103=)
c.15258A>T (p.Ala5086=)
1g.19078051T>CCA416453166UBR4c.15249A>G (p.Ala5083=)
c.2370A>G (p.Ala790=)
c.474A>G (p.Ala158=)
n.3256A>G
c.15402A>G (p.Ala5134=)
c.15399A>G (p.Ala5133=)
c.15387A>G (p.Ala5129=)
c.15384A>G (p.Ala5128=)
c.15378A>G (p.Ala5126=)
c.15369A>G (p.Ala5123=)
c.15318A>G (p.Ala5106=)
c.15315A>G (p.Ala5105=)
c.15282A>G (p.Ala5094=)
c.15279A>G (p.Ala5093=)
c.15246A>G (p.Ala5082=)
c.15516A>G (p.Ala5172=)
c.15513A>G (p.Ala5171=)
c.15501A>G (p.Ala5167=)
c.15498A>G (p.Ala5166=)
c.15492A>G (p.Ala5164=)
c.15483A>G (p.Ala5161=)
c.15432A>G (p.Ala5144=)
c.15429A>G (p.Ala5143=)
c.15396A>G (p.Ala5132=)
c.15393A>G (p.Ala5131=)
c.15360A>G (p.Ala5120=)
c.15495A>G (p.Ala5165=)
c.15468A>G (p.Ala5156=)
c.15414A>G (p.Ala5138=)
c.15381A>G (p.Ala5127=)
c.15357A>G (p.Ala5119=)
c.15309A>G (p.Ala5103=)
c.15258A>G (p.Ala5086=)
1g.19078051T>GCA416453167UBR4c.15249A>C (p.Ala5083=)
c.2370A>C (p.Ala790=)
c.474A>C (p.Ala158=)
n.3256A>C
c.15402A>C (p.Ala5134=)
c.15399A>C (p.Ala5133=)
c.15387A>C (p.Ala5129=)
c.15384A>C (p.Ala5128=)
c.15378A>C (p.Ala5126=)
c.15369A>C (p.Ala5123=)
c.15318A>C (p.Ala5106=)
c.15315A>C (p.Ala5105=)
c.15282A>C (p.Ala5094=)
c.15279A>C (p.Ala5093=)
c.15246A>C (p.Ala5082=)
c.15516A>C (p.Ala5172=)
c.15513A>C (p.Ala5171=)
c.15501A>C (p.Ala5167=)
c.15498A>C (p.Ala5166=)
c.15492A>C (p.Ala5164=)
c.15483A>C (p.Ala5161=)
c.15432A>C (p.Ala5144=)
c.15429A>C (p.Ala5143=)
c.15396A>C (p.Ala5132=)
c.15393A>C (p.Ala5131=)
c.15360A>C (p.Ala5120=)
c.15495A>C (p.Ala5165=)
c.15468A>C (p.Ala5156=)
c.15414A>C (p.Ala5138=)
c.15381A>C (p.Ala5127=)
c.15357A>C (p.Ala5119=)
c.15309A>C (p.Ala5103=)
c.15258A>C (p.Ala5086=)
1g.19078052G>ACA338748309UBR4c.15248C>T (p.Ala5083Val)
c.2369C>T (p.Ala790Val)
c.473C>T (p.Ala158Val)
n.3255C>T
c.15401C>T (p.Ala5134Val)
c.15398C>T (p.Ala5133Val)
c.15386C>T (p.Ala5129Val)
c.15383C>T (p.Ala5128Val)
c.15377C>T (p.Ala5126Val)
c.15368C>T (p.Ala5123Val)
c.15317C>T (p.Ala5106Val)
c.15314C>T (p.Ala5105Val)
c.15281C>T (p.Ala5094Val)
c.15278C>T (p.Ala5093Val)
c.15245C>T (p.Ala5082Val)
c.15515C>T (p.Ala5172Val)
c.15512C>T (p.Ala5171Val)
c.15500C>T (p.Ala5167Val)
c.15497C>T (p.Ala5166Val)
c.15491C>T (p.Ala5164Val)
c.15482C>T (p.Ala5161Val)
c.15431C>T (p.Ala5144Val)
c.15428C>T (p.Ala5143Val)
c.15395C>T (p.Ala5132Val)
c.15392C>T (p.Ala5131Val)
c.15359C>T (p.Ala5120Val)
c.15494C>T (p.Ala5165Val)
c.15467C>T (p.Ala5156Val)
c.15413C>T (p.Ala5138Val)
c.15380C>T (p.Ala5127Val)
c.15356C>T (p.Ala5119Val)
c.15308C>T (p.Ala5103Val)
c.15257C>T (p.Ala5086Val)
1g.19078052G>CCA338748310UBR4c.15248C>G (p.Ala5083Gly)
c.2369C>G (p.Ala790Gly)
c.473C>G (p.Ala158Gly)
n.3255C>G
c.15401C>G (p.Ala5134Gly)
c.15398C>G (p.Ala5133Gly)
c.15386C>G (p.Ala5129Gly)
c.15383C>G (p.Ala5128Gly)
c.15377C>G (p.Ala5126Gly)
c.15368C>G (p.Ala5123Gly)
c.15317C>G (p.Ala5106Gly)
c.15314C>G (p.Ala5105Gly)
c.15281C>G (p.Ala5094Gly)
c.15278C>G (p.Ala5093Gly)
c.15245C>G (p.Ala5082Gly)
c.15515C>G (p.Ala5172Gly)
c.15512C>G (p.Ala5171Gly)
c.15500C>G (p.Ala5167Gly)
c.15497C>G (p.Ala5166Gly)
c.15491C>G (p.Ala5164Gly)
c.15482C>G (p.Ala5161Gly)
c.15431C>G (p.Ala5144Gly)
c.15428C>G (p.Ala5143Gly)
c.15395C>G (p.Ala5132Gly)
c.15392C>G (p.Ala5131Gly)
c.15359C>G (p.Ala5120Gly)
c.15494C>G (p.Ala5165Gly)
c.15467C>G (p.Ala5156Gly)
c.15413C>G (p.Ala5138Gly)
c.15380C>G (p.Ala5127Gly)
c.15356C>G (p.Ala5119Gly)
c.15308C>G (p.Ala5103Gly)
c.15257C>G (p.Ala5086Gly)
1g.19078052G>TCA338748313UBR4c.15248C>A (p.Ala5083Glu)
c.2369C>A (p.Ala790Glu)
c.473C>A (p.Ala158Glu)
n.3255C>A
c.15401C>A (p.Ala5134Glu)
c.15398C>A (p.Ala5133Glu)
c.15386C>A (p.Ala5129Glu)
c.15383C>A (p.Ala5128Glu)
c.15377C>A (p.Ala5126Glu)
c.15368C>A (p.Ala5123Glu)
c.15317C>A (p.Ala5106Glu)
c.15314C>A (p.Ala5105Glu)
c.15281C>A (p.Ala5094Glu)
c.15278C>A (p.Ala5093Glu)
c.15245C>A (p.Ala5082Glu)
c.15515C>A (p.Ala5172Glu)
c.15512C>A (p.Ala5171Glu)
c.15500C>A (p.Ala5167Glu)
c.15497C>A (p.Ala5166Glu)
c.15491C>A (p.Ala5164Glu)
c.15482C>A (p.Ala5161Glu)
c.15431C>A (p.Ala5144Glu)
c.15428C>A (p.Ala5143Glu)
c.15395C>A (p.Ala5132Glu)
c.15392C>A (p.Ala5131Glu)
c.15359C>A (p.Ala5120Glu)
c.15494C>A (p.Ala5165Glu)
c.15467C>A (p.Ala5156Glu)
c.15413C>A (p.Ala5138Glu)
c.15380C>A (p.Ala5127Glu)
c.15356C>A (p.Ala5119Glu)
c.15308C>A (p.Ala5103Glu)
c.15257C>A (p.Ala5086Glu)
1g.19078053C>ACA338748317UBR4c.15247G>T (p.Ala5083Ser)
c.2368G>T (p.Ala790Ser)
c.472G>T (p.Ala158Ser)
n.3254G>T
c.15400G>T (p.Ala5134Ser)
c.15397G>T (p.Ala5133Ser)
c.15385G>T (p.Ala5129Ser)
c.15382G>T (p.Ala5128Ser)
c.15376G>T (p.Ala5126Ser)
c.15367G>T (p.Ala5123Ser)
c.15316G>T (p.Ala5106Ser)
c.15313G>T (p.Ala5105Ser)
c.15280G>T (p.Ala5094Ser)
c.15277G>T (p.Ala5093Ser)
c.15244G>T (p.Ala5082Ser)
c.15514G>T (p.Ala5172Ser)
c.15511G>T (p.Ala5171Ser)
c.15499G>T (p.Ala5167Ser)
c.15496G>T (p.Ala5166Ser)
c.15490G>T (p.Ala5164Ser)
c.15481G>T (p.Ala5161Ser)
c.15430G>T (p.Ala5144Ser)
c.15427G>T (p.Ala5143Ser)
c.15394G>T (p.Ala5132Ser)
c.15391G>T (p.Ala5131Ser)
c.15358G>T (p.Ala5120Ser)
c.15493G>T (p.Ala5165Ser)
c.15466G>T (p.Ala5156Ser)
c.15412G>T (p.Ala5138Ser)
c.15379G>T (p.Ala5127Ser)
c.15355G>T (p.Ala5119Ser)
c.15307G>T (p.Ala5103Ser)
c.15256G>T (p.Ala5086Ser)
1g.19078053C>GCA338748316UBR4c.15247G>C (p.Ala5083Pro)
c.2368G>C (p.Ala790Pro)
c.472G>C (p.Ala158Pro)
n.3254G>C
c.15400G>C (p.Ala5134Pro)
c.15397G>C (p.Ala5133Pro)
c.15385G>C (p.Ala5129Pro)
c.15382G>C (p.Ala5128Pro)
c.15376G>C (p.Ala5126Pro)
c.15367G>C (p.Ala5123Pro)
c.15316G>C (p.Ala5106Pro)
c.15313G>C (p.Ala5105Pro)
c.15280G>C (p.Ala5094Pro)
c.15277G>C (p.Ala5093Pro)
c.15244G>C (p.Ala5082Pro)
c.15514G>C (p.Ala5172Pro)
c.15511G>C (p.Ala5171Pro)
c.15499G>C (p.Ala5167Pro)
c.15496G>C (p.Ala5166Pro)
c.15490G>C (p.Ala5164Pro)
c.15481G>C (p.Ala5161Pro)
c.15430G>C (p.Ala5144Pro)
c.15427G>C (p.Ala5143Pro)
c.15394G>C (p.Ala5132Pro)
c.15391G>C (p.Ala5131Pro)
c.15358G>C (p.Ala5120Pro)
c.15493G>C (p.Ala5165Pro)
c.15466G>C (p.Ala5156Pro)
c.15412G>C (p.Ala5138Pro)
c.15379G>C (p.Ala5127Pro)
c.15355G>C (p.Ala5119Pro)
c.15307G>C (p.Ala5103Pro)
c.15256G>C (p.Ala5086Pro)
1g.19078053C>TCA338748314UBR4c.15247G>A (p.Ala5083Thr)
c.2368G>A (p.Ala790Thr)
c.472G>A (p.Ala158Thr)
n.3254G>A
c.15400G>A (p.Ala5134Thr)
c.15397G>A (p.Ala5133Thr)
c.15385G>A (p.Ala5129Thr)
c.15382G>A (p.Ala5128Thr)
c.15376G>A (p.Ala5126Thr)
c.15367G>A (p.Ala5123Thr)
c.15316G>A (p.Ala5106Thr)
c.15313G>A (p.Ala5105Thr)
c.15280G>A (p.Ala5094Thr)
c.15277G>A (p.Ala5093Thr)
c.15244G>A (p.Ala5082Thr)
c.15514G>A (p.Ala5172Thr)
c.15511G>A (p.Ala5171Thr)
c.15499G>A (p.Ala5167Thr)
c.15496G>A (p.Ala5166Thr)
c.15490G>A (p.Ala5164Thr)
c.15481G>A (p.Ala5161Thr)
c.15430G>A (p.Ala5144Thr)
c.15427G>A (p.Ala5143Thr)
c.15394G>A (p.Ala5132Thr)
c.15391G>A (p.Ala5131Thr)
c.15358G>A (p.Ala5120Thr)
c.15493G>A (p.Ala5165Thr)
c.15466G>A (p.Ala5156Thr)
c.15412G>A (p.Ala5138Thr)
c.15379G>A (p.Ala5127Thr)
c.15355G>A (p.Ala5119Thr)
c.15307G>A (p.Ala5103Thr)
c.15256G>A (p.Ala5086Thr)
1g.19078054C>ACA338748319UBR4c.15246G>T (p.Lys5082Asn)
c.2367G>T (p.Lys789Asn)
c.471G>T (p.Lys157Asn)
n.3253G>T
c.15399G>T (p.Lys5133Asn)
c.15396G>T (p.Lys5132Asn)
c.15384G>T (p.Lys5128Asn)
c.15381G>T (p.Lys5127Asn)
c.15375G>T (p.Lys5125Asn)
c.15366G>T (p.Lys5122Asn)
c.15315G>T (p.Lys5105Asn)
c.15312G>T (p.Lys5104Asn)
c.15279G>T (p.Lys5093Asn)
c.15276G>T (p.Lys5092Asn)
c.15243G>T (p.Lys5081Asn)
c.15513G>T (p.Lys5171Asn)
c.15510G>T (p.Lys5170Asn)
c.15498G>T (p.Lys5166Asn)
c.15495G>T (p.Lys5165Asn)
c.15489G>T (p.Lys5163Asn)
c.15480G>T (p.Lys5160Asn)
c.15429G>T (p.Lys5143Asn)
c.15426G>T (p.Lys5142Asn)
c.15393G>T (p.Lys5131Asn)
c.15390G>T (p.Lys5130Asn)
c.15357G>T (p.Lys5119Asn)
c.15492G>T (p.Lys5164Asn)
c.15465G>T (p.Lys5155Asn)
c.15411G>T (p.Lys5137Asn)
c.15378G>T (p.Lys5126Asn)
c.15354G>T (p.Lys5118Asn)
c.15306G>T (p.Lys5102Asn)
c.15255G>T (p.Lys5085Asn)
1g.19078054C=CA1156956087UBR4c.15246G= (p.Lys5082=)
c.2367G= (p.Lys789=)
c.471G= (p.Lys157=)
n.3253G=
c.15399G= (p.Lys5133=)
c.15396G= (p.Lys5132=)
c.15384G= (p.Lys5128=)
c.15381G= (p.Lys5127=)
c.15375G= (p.Lys5125=)
c.15366G= (p.Lys5122=)
c.15315G= (p.Lys5105=)
c.15312G= (p.Lys5104=)
c.15279G= (p.Lys5093=)
c.15276G= (p.Lys5092=)
c.15243G= (p.Lys5081=)
c.15513G= (p.Lys5171=)
c.15510G= (p.Lys5170=)
c.15498G= (p.Lys5166=)
c.15495G= (p.Lys5165=)
c.15489G= (p.Lys5163=)
c.15480G= (p.Lys5160=)
c.15429G= (p.Lys5143=)
c.15426G= (p.Lys5142=)
c.15393G= (p.Lys5131=)
c.15390G= (p.Lys5130=)
c.15357G= (p.Lys5119=)
c.15492G= (p.Lys5164=)
c.15465G= (p.Lys5155=)
c.15411G= (p.Lys5137=)
c.15378G= (p.Lys5126=)
c.15354G= (p.Lys5118=)
c.15306G= (p.Lys5102=)
c.15255G= (p.Lys5085=)
1g.19078054C>GCA338748320UBR4c.15246G>C (p.Lys5082Asn)
c.2367G>C (p.Lys789Asn)
c.471G>C (p.Lys157Asn)
n.3253G>C
c.15399G>C (p.Lys5133Asn)
c.15396G>C (p.Lys5132Asn)
c.15384G>C (p.Lys5128Asn)
c.15381G>C (p.Lys5127Asn)
c.15375G>C (p.Lys5125Asn)
c.15366G>C (p.Lys5122Asn)
c.15315G>C (p.Lys5105Asn)
c.15312G>C (p.Lys5104Asn)
c.15279G>C (p.Lys5093Asn)
c.15276G>C (p.Lys5092Asn)
c.15243G>C (p.Lys5081Asn)
c.15513G>C (p.Lys5171Asn)
c.15510G>C (p.Lys5170Asn)
c.15498G>C (p.Lys5166Asn)
c.15495G>C (p.Lys5165Asn)
c.15489G>C (p.Lys5163Asn)
c.15480G>C (p.Lys5160Asn)
c.15429G>C (p.Lys5143Asn)
c.15426G>C (p.Lys5142Asn)
c.15393G>C (p.Lys5131Asn)
c.15390G>C (p.Lys5130Asn)
c.15357G>C (p.Lys5119Asn)
c.15492G>C (p.Lys5164Asn)
c.15465G>C (p.Lys5155Asn)
c.15411G>C (p.Lys5137Asn)
c.15378G>C (p.Lys5126Asn)
c.15354G>C (p.Lys5118Asn)
c.15306G>C (p.Lys5102Asn)
c.15255G>C (p.Lys5085Asn)
1g.19078054C>TCA416453169UBR4c.15246G>A (p.Lys5082=)
c.2367G>A (p.Lys789=)
c.471G>A (p.Lys157=)
n.3253G>A
c.15399G>A (p.Lys5133=)
c.15396G>A (p.Lys5132=)
c.15384G>A (p.Lys5128=)
c.15381G>A (p.Lys5127=)
c.15375G>A (p.Lys5125=)
c.15366G>A (p.Lys5122=)
c.15315G>A (p.Lys5105=)
c.15312G>A (p.Lys5104=)
c.15279G>A (p.Lys5093=)
c.15276G>A (p.Lys5092=)
c.15243G>A (p.Lys5081=)
c.15513G>A (p.Lys5171=)
c.15510G>A (p.Lys5170=)
c.15498G>A (p.Lys5166=)
c.15495G>A (p.Lys5165=)
c.15489G>A (p.Lys5163=)
c.15480G>A (p.Lys5160=)
c.15429G>A (p.Lys5143=)
c.15426G>A (p.Lys5142=)
c.15393G>A (p.Lys5131=)
c.15390G>A (p.Lys5130=)
c.15357G>A (p.Lys5119=)
c.15492G>A (p.Lys5164=)
c.15465G>A (p.Lys5155=)
c.15411G>A (p.Lys5137=)
c.15378G>A (p.Lys5126=)
c.15354G>A (p.Lys5118=)
c.15306G>A (p.Lys5102=)
c.15255G>A (p.Lys5085=)
 dbSNP gnomAD v2 gnomAD v4
1g.19078055T>ACA338748321UBR4c.15245A>T (p.Lys5082Met)
c.2366A>T (p.Lys789Met)
c.470A>T (p.Lys157Met)
n.3252A>T
c.15398A>T (p.Lys5133Met)
c.15395A>T (p.Lys5132Met)
c.15383A>T (p.Lys5128Met)
c.15380A>T (p.Lys5127Met)
c.15374A>T (p.Lys5125Met)
c.15365A>T (p.Lys5122Met)
c.15314A>T (p.Lys5105Met)
c.15311A>T (p.Lys5104Met)
c.15278A>T (p.Lys5093Met)
c.15275A>T (p.Lys5092Met)
c.15242A>T (p.Lys5081Met)
c.15512A>T (p.Lys5171Met)
c.15509A>T (p.Lys5170Met)
c.15497A>T (p.Lys5166Met)
c.15494A>T (p.Lys5165Met)
c.15488A>T (p.Lys5163Met)
c.15479A>T (p.Lys5160Met)
c.15428A>T (p.Lys5143Met)
c.15425A>T (p.Lys5142Met)
c.15392A>T (p.Lys5131Met)
c.15389A>T (p.Lys5130Met)
c.15356A>T (p.Lys5119Met)
c.15491A>T (p.Lys5164Met)
c.15464A>T (p.Lys5155Met)
c.15410A>T (p.Lys5137Met)
c.15377A>T (p.Lys5126Met)
c.15353A>T (p.Lys5118Met)
c.15305A>T (p.Lys5102Met)
c.15254A>T (p.Lys5085Met)
1g.19078055T>CCA338748323UBR4c.15245A>G (p.Lys5082Arg)
c.2366A>G (p.Lys789Arg)
c.470A>G (p.Lys157Arg)
n.3252A>G
c.15398A>G (p.Lys5133Arg)
c.15395A>G (p.Lys5132Arg)
c.15383A>G (p.Lys5128Arg)
c.15380A>G (p.Lys5127Arg)
c.15374A>G (p.Lys5125Arg)
c.15365A>G (p.Lys5122Arg)
c.15314A>G (p.Lys5105Arg)
c.15311A>G (p.Lys5104Arg)
c.15278A>G (p.Lys5093Arg)
c.15275A>G (p.Lys5092Arg)
c.15242A>G (p.Lys5081Arg)
c.15512A>G (p.Lys5171Arg)
c.15509A>G (p.Lys5170Arg)
c.15497A>G (p.Lys5166Arg)
c.15494A>G (p.Lys5165Arg)
c.15488A>G (p.Lys5163Arg)
c.15479A>G (p.Lys5160Arg)
c.15428A>G (p.Lys5143Arg)
c.15425A>G (p.Lys5142Arg)
c.15392A>G (p.Lys5131Arg)
c.15389A>G (p.Lys5130Arg)
c.15356A>G (p.Lys5119Arg)
c.15491A>G (p.Lys5164Arg)
c.15464A>G (p.Lys5155Arg)
c.15410A>G (p.Lys5137Arg)
c.15377A>G (p.Lys5126Arg)
c.15353A>G (p.Lys5118Arg)
c.15305A>G (p.Lys5102Arg)
c.15254A>G (p.Lys5085Arg)
 dbSNP
1g.19078055T>GCA338748326UBR4c.15245A>C (p.Lys5082Thr)
c.2366A>C (p.Lys789Thr)
c.470A>C (p.Lys157Thr)
n.3252A>C
c.15398A>C (p.Lys5133Thr)
c.15395A>C (p.Lys5132Thr)
c.15383A>C (p.Lys5128Thr)
c.15380A>C (p.Lys5127Thr)
c.15374A>C (p.Lys5125Thr)
c.15365A>C (p.Lys5122Thr)
c.15314A>C (p.Lys5105Thr)
c.15311A>C (p.Lys5104Thr)
c.15278A>C (p.Lys5093Thr)
c.15275A>C (p.Lys5092Thr)
c.15242A>C (p.Lys5081Thr)
c.15512A>C (p.Lys5171Thr)
c.15509A>C (p.Lys5170Thr)
c.15497A>C (p.Lys5166Thr)
c.15494A>C (p.Lys5165Thr)
c.15488A>C (p.Lys5163Thr)
c.15479A>C (p.Lys5160Thr)
c.15428A>C (p.Lys5143Thr)
c.15425A>C (p.Lys5142Thr)
c.15392A>C (p.Lys5131Thr)
c.15389A>C (p.Lys5130Thr)
c.15356A>C (p.Lys5119Thr)
c.15491A>C (p.Lys5164Thr)
c.15464A>C (p.Lys5155Thr)
c.15410A>C (p.Lys5137Thr)
c.15377A>C (p.Lys5126Thr)
c.15353A>C (p.Lys5118Thr)
c.15305A>C (p.Lys5102Thr)
c.15254A>C (p.Lys5085Thr)
1g.19078055T=CA1156956088UBR4c.15245A= (p.Lys5082=)
c.2366A= (p.Lys789=)
c.470A= (p.Lys157=)
n.3252A=
c.15398A= (p.Lys5133=)
c.15395A= (p.Lys5132=)
c.15383A= (p.Lys5128=)
c.15380A= (p.Lys5127=)
c.15374A= (p.Lys5125=)
c.15365A= (p.Lys5122=)
c.15314A= (p.Lys5105=)
c.15311A= (p.Lys5104=)
c.15278A= (p.Lys5093=)
c.15275A= (p.Lys5092=)
c.15242A= (p.Lys5081=)
c.15512A= (p.Lys5171=)
c.15509A= (p.Lys5170=)
c.15497A= (p.Lys5166=)
c.15494A= (p.Lys5165=)
c.15488A= (p.Lys5163=)
c.15479A= (p.Lys5160=)
c.15428A= (p.Lys5143=)
c.15425A= (p.Lys5142=)
c.15392A= (p.Lys5131=)
c.15389A= (p.Lys5130=)
c.15356A= (p.Lys5119=)
c.15491A= (p.Lys5164=)
c.15464A= (p.Lys5155=)
c.15410A= (p.Lys5137=)
c.15377A= (p.Lys5126=)
c.15353A= (p.Lys5118=)
c.15305A= (p.Lys5102=)
c.15254A= (p.Lys5085=)
1g.19078056T>ACA338748327UBR4c.15244A>T (p.Lys5082Ter)
c.2365A>T (p.Lys789Ter)
c.469A>T (p.Lys157Ter)
n.3251A>T
c.15397A>T (p.Lys5133Ter)
c.15394A>T (p.Lys5132Ter)
c.15382A>T (p.Lys5128Ter)
c.15379A>T (p.Lys5127Ter)
c.15373A>T (p.Lys5125Ter)
c.15364A>T (p.Lys5122Ter)
c.15313A>T (p.Lys5105Ter)
c.15310A>T (p.Lys5104Ter)
c.15277A>T (p.Lys5093Ter)
c.15274A>T (p.Lys5092Ter)
c.15241A>T (p.Lys5081Ter)
c.15511A>T (p.Lys5171Ter)
c.15508A>T (p.Lys5170Ter)
c.15496A>T (p.Lys5166Ter)
c.15493A>T (p.Lys5165Ter)
c.15487A>T (p.Lys5163Ter)
c.15478A>T (p.Lys5160Ter)
c.15427A>T (p.Lys5143Ter)
c.15424A>T (p.Lys5142Ter)
c.15391A>T (p.Lys5131Ter)
c.15388A>T (p.Lys5130Ter)
c.15355A>T (p.Lys5119Ter)
c.15490A>T (p.Lys5164Ter)
c.15463A>T (p.Lys5155Ter)
c.15409A>T (p.Lys5137Ter)
c.15376A>T (p.Lys5126Ter)
c.15352A>T (p.Lys5118Ter)
c.15304A>T (p.Lys5102Ter)
c.15253A>T (p.Lys5085Ter)
1g.19078056T>CCA338748328UBR4c.15244A>G (p.Lys5082Glu)
c.2365A>G (p.Lys789Glu)
c.469A>G (p.Lys157Glu)
n.3251A>G
c.15397A>G (p.Lys5133Glu)
c.15394A>G (p.Lys5132Glu)
c.15382A>G (p.Lys5128Glu)
c.15379A>G (p.Lys5127Glu)
c.15373A>G (p.Lys5125Glu)
c.15364A>G (p.Lys5122Glu)
c.15313A>G (p.Lys5105Glu)
c.15310A>G (p.Lys5104Glu)
c.15277A>G (p.Lys5093Glu)
c.15274A>G (p.Lys5092Glu)
c.15241A>G (p.Lys5081Glu)
c.15511A>G (p.Lys5171Glu)
c.15508A>G (p.Lys5170Glu)
c.15496A>G (p.Lys5166Glu)
c.15493A>G (p.Lys5165Glu)
c.15487A>G (p.Lys5163Glu)
c.15478A>G (p.Lys5160Glu)
c.15427A>G (p.Lys5143Glu)
c.15424A>G (p.Lys5142Glu)
c.15391A>G (p.Lys5131Glu)
c.15388A>G (p.Lys5130Glu)
c.15355A>G (p.Lys5119Glu)
c.15490A>G (p.Lys5164Glu)
c.15463A>G (p.Lys5155Glu)
c.15409A>G (p.Lys5137Glu)
c.15376A>G (p.Lys5126Glu)
c.15352A>G (p.Lys5118Glu)
c.15304A>G (p.Lys5102Glu)
c.15253A>G (p.Lys5085Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.19078056T>GCA338748330UBR4c.15244A>C (p.Lys5082Gln)
c.2365A>C (p.Lys789Gln)
c.469A>C (p.Lys157Gln)
n.3251A>C
c.15397A>C (p.Lys5133Gln)
c.15394A>C (p.Lys5132Gln)
c.15382A>C (p.Lys5128Gln)
c.15379A>C (p.Lys5127Gln)
c.15373A>C (p.Lys5125Gln)
c.15364A>C (p.Lys5122Gln)
c.15313A>C (p.Lys5105Gln)
c.15310A>C (p.Lys5104Gln)
c.15277A>C (p.Lys5093Gln)
c.15274A>C (p.Lys5092Gln)
c.15241A>C (p.Lys5081Gln)
c.15511A>C (p.Lys5171Gln)
c.15508A>C (p.Lys5170Gln)
c.15496A>C (p.Lys5166Gln)
c.15493A>C (p.Lys5165Gln)
c.15487A>C (p.Lys5163Gln)
c.15478A>C (p.Lys5160Gln)
c.15427A>C (p.Lys5143Gln)
c.15424A>C (p.Lys5142Gln)
c.15391A>C (p.Lys5131Gln)
c.15388A>C (p.Lys5130Gln)
c.15355A>C (p.Lys5119Gln)
c.15490A>C (p.Lys5164Gln)
c.15463A>C (p.Lys5155Gln)
c.15409A>C (p.Lys5137Gln)
c.15376A>C (p.Lys5126Gln)
c.15352A>C (p.Lys5118Gln)
c.15304A>C (p.Lys5102Gln)
c.15253A>C (p.Lys5085Gln)
1g.19078056T=CA1156956089UBR4c.15244A= (p.Lys5082=)
c.2365A= (p.Lys789=)
c.469A= (p.Lys157=)
n.3251A=
c.15397A= (p.Lys5133=)
c.15394A= (p.Lys5132=)
c.15382A= (p.Lys5128=)
c.15379A= (p.Lys5127=)
c.15373A= (p.Lys5125=)
c.15364A= (p.Lys5122=)
c.15313A= (p.Lys5105=)
c.15310A= (p.Lys5104=)
c.15277A= (p.Lys5093=)
c.15274A= (p.Lys5092=)
c.15241A= (p.Lys5081=)
c.15511A= (p.Lys5171=)
c.15508A= (p.Lys5170=)
c.15496A= (p.Lys5166=)
c.15493A= (p.Lys5165=)
c.15487A= (p.Lys5163=)
c.15478A= (p.Lys5160=)
c.15427A= (p.Lys5143=)
c.15424A= (p.Lys5142=)
c.15391A= (p.Lys5131=)
c.15388A= (p.Lys5130=)
c.15355A= (p.Lys5119=)
c.15490A= (p.Lys5164=)
c.15463A= (p.Lys5155=)
c.15409A= (p.Lys5137=)
c.15376A= (p.Lys5126=)
c.15352A= (p.Lys5118=)
c.15304A= (p.Lys5102=)
c.15253A= (p.Lys5085=)
1g.19078057A>CCA338748332UBR4c.15243T>G (p.Asp5081Glu)
c.2364T>G (p.Asp788Glu)
c.468T>G (p.Asp156Glu)
n.3250T>G
c.15396T>G (p.Asp5132Glu)
c.15393T>G (p.Asp5131Glu)
c.15381T>G (p.Asp5127Glu)
c.15378T>G (p.Asp5126Glu)
c.15372T>G (p.Asp5124Glu)
c.15363T>G (p.Asp5121Glu)
c.15312T>G (p.Asp5104Glu)
c.15309T>G (p.Asp5103Glu)
c.15276T>G (p.Asp5092Glu)
c.15273T>G (p.Asp5091Glu)
c.15240T>G (p.Asp5080Glu)
c.15510T>G (p.Asp5170Glu)
c.15507T>G (p.Asp5169Glu)
c.15495T>G (p.Asp5165Glu)
c.15492T>G (p.Asp5164Glu)
c.15486T>G (p.Asp5162Glu)
c.15477T>G (p.Asp5159Glu)
c.15426T>G (p.Asp5142Glu)
c.15423T>G (p.Asp5141Glu)
c.15390T>G (p.Asp5130Glu)
c.15387T>G (p.Asp5129Glu)
c.15354T>G (p.Asp5118Glu)
c.15489T>G (p.Asp5163Glu)
c.15462T>G (p.Asp5154Glu)
c.15408T>G (p.Asp5136Glu)
c.15375T>G (p.Asp5125Glu)
c.15351T>G (p.Asp5117Glu)
c.15303T>G (p.Asp5101Glu)
c.15252T>G (p.Asp5084Glu)
1g.19078057A>GCA416453170UBR4c.15243T>C (p.Asp5081=)
c.2364T>C (p.Asp788=)
c.468T>C (p.Asp156=)
n.3250T>C
c.15396T>C (p.Asp5132=)
c.15393T>C (p.Asp5131=)
c.15381T>C (p.Asp5127=)
c.15378T>C (p.Asp5126=)
c.15372T>C (p.Asp5124=)
c.15363T>C (p.Asp5121=)
c.15312T>C (p.Asp5104=)
c.15309T>C (p.Asp5103=)
c.15276T>C (p.Asp5092=)
c.15273T>C (p.Asp5091=)
c.15240T>C (p.Asp5080=)
c.15510T>C (p.Asp5170=)
c.15507T>C (p.Asp5169=)
c.15495T>C (p.Asp5165=)
c.15492T>C (p.Asp5164=)
c.15486T>C (p.Asp5162=)
c.15477T>C (p.Asp5159=)
c.15426T>C (p.Asp5142=)
c.15423T>C (p.Asp5141=)
c.15390T>C (p.Asp5130=)
c.15387T>C (p.Asp5129=)
c.15354T>C (p.Asp5118=)
c.15489T>C (p.Asp5163=)
c.15462T>C (p.Asp5154=)
c.15408T>C (p.Asp5136=)
c.15375T>C (p.Asp5125=)
c.15351T>C (p.Asp5117=)
c.15303T>C (p.Asp5101=)
c.15252T>C (p.Asp5084=)
1g.19078057A>TCA338748333UBR4c.15243T>A (p.Asp5081Glu)
c.2364T>A (p.Asp788Glu)
c.468T>A (p.Asp156Glu)
n.3250T>A
c.15396T>A (p.Asp5132Glu)
c.15393T>A (p.Asp5131Glu)
c.15381T>A (p.Asp5127Glu)
c.15378T>A (p.Asp5126Glu)
c.15372T>A (p.Asp5124Glu)
c.15363T>A (p.Asp5121Glu)
c.15312T>A (p.Asp5104Glu)
c.15309T>A (p.Asp5103Glu)
c.15276T>A (p.Asp5092Glu)
c.15273T>A (p.Asp5091Glu)
c.15240T>A (p.Asp5080Glu)
c.15510T>A (p.Asp5170Glu)
c.15507T>A (p.Asp5169Glu)
c.15495T>A (p.Asp5165Glu)
c.15492T>A (p.Asp5164Glu)
c.15486T>A (p.Asp5162Glu)
c.15477T>A (p.Asp5159Glu)
c.15426T>A (p.Asp5142Glu)
c.15423T>A (p.Asp5141Glu)
c.15390T>A (p.Asp5130Glu)
c.15387T>A (p.Asp5129Glu)
c.15354T>A (p.Asp5118Glu)
c.15489T>A (p.Asp5163Glu)
c.15462T>A (p.Asp5154Glu)
c.15408T>A (p.Asp5136Glu)
c.15375T>A (p.Asp5125Glu)
c.15351T>A (p.Asp5117Glu)
c.15303T>A (p.Asp5101Glu)
c.15252T>A (p.Asp5084Glu)
1g.19078058T>ACA338748336UBR4c.15242A>T (p.Asp5081Val)
c.2363A>T (p.Asp788Val)
c.467A>T (p.Asp156Val)
n.3249A>T
c.15395A>T (p.Asp5132Val)
c.15392A>T (p.Asp5131Val)
c.15380A>T (p.Asp5127Val)
c.15377A>T (p.Asp5126Val)
c.15371A>T (p.Asp5124Val)
c.15362A>T (p.Asp5121Val)
c.15311A>T (p.Asp5104Val)
c.15308A>T (p.Asp5103Val)
c.15275A>T (p.Asp5092Val)
c.15272A>T (p.Asp5091Val)
c.15239A>T (p.Asp5080Val)
c.15509A>T (p.Asp5170Val)
c.15506A>T (p.Asp5169Val)
c.15494A>T (p.Asp5165Val)
c.15491A>T (p.Asp5164Val)
c.15485A>T (p.Asp5162Val)
c.15476A>T (p.Asp5159Val)
c.15425A>T (p.Asp5142Val)
c.15422A>T (p.Asp5141Val)
c.15389A>T (p.Asp5130Val)
c.15386A>T (p.Asp5129Val)
c.15353A>T (p.Asp5118Val)
c.15488A>T (p.Asp5163Val)
c.15461A>T (p.Asp5154Val)
c.15407A>T (p.Asp5136Val)
c.15374A>T (p.Asp5125Val)
c.15350A>T (p.Asp5117Val)
c.15302A>T (p.Asp5101Val)
c.15251A>T (p.Asp5084Val)
1g.19078058T>CCA338748337UBR4c.15242A>G (p.Asp5081Gly)
c.2363A>G (p.Asp788Gly)
c.467A>G (p.Asp156Gly)
n.3249A>G
c.15395A>G (p.Asp5132Gly)
c.15392A>G (p.Asp5131Gly)
c.15380A>G (p.Asp5127Gly)
c.15377A>G (p.Asp5126Gly)
c.15371A>G (p.Asp5124Gly)
c.15362A>G (p.Asp5121Gly)
c.15311A>G (p.Asp5104Gly)
c.15308A>G (p.Asp5103Gly)
c.15275A>G (p.Asp5092Gly)
c.15272A>G (p.Asp5091Gly)
c.15239A>G (p.Asp5080Gly)
c.15509A>G (p.Asp5170Gly)
c.15506A>G (p.Asp5169Gly)
c.15494A>G (p.Asp5165Gly)
c.15491A>G (p.Asp5164Gly)
c.15485A>G (p.Asp5162Gly)
c.15476A>G (p.Asp5159Gly)
c.15425A>G (p.Asp5142Gly)
c.15422A>G (p.Asp5141Gly)
c.15389A>G (p.Asp5130Gly)
c.15386A>G (p.Asp5129Gly)
c.15353A>G (p.Asp5118Gly)
c.15488A>G (p.Asp5163Gly)
c.15461A>G (p.Asp5154Gly)
c.15407A>G (p.Asp5136Gly)
c.15374A>G (p.Asp5125Gly)
c.15350A>G (p.Asp5117Gly)
c.15302A>G (p.Asp5101Gly)
c.15251A>G (p.Asp5084Gly)
1g.19078058T>GCA338748339UBR4c.15242A>C (p.Asp5081Ala)
c.2363A>C (p.Asp788Ala)
c.467A>C (p.Asp156Ala)
n.3249A>C
c.15395A>C (p.Asp5132Ala)
c.15392A>C (p.Asp5131Ala)
c.15380A>C (p.Asp5127Ala)
c.15377A>C (p.Asp5126Ala)
c.15371A>C (p.Asp5124Ala)
c.15362A>C (p.Asp5121Ala)
c.15311A>C (p.Asp5104Ala)
c.15308A>C (p.Asp5103Ala)
c.15275A>C (p.Asp5092Ala)
c.15272A>C (p.Asp5091Ala)
c.15239A>C (p.Asp5080Ala)
c.15509A>C (p.Asp5170Ala)
c.15506A>C (p.Asp5169Ala)
c.15494A>C (p.Asp5165Ala)
c.15491A>C (p.Asp5164Ala)
c.15485A>C (p.Asp5162Ala)
c.15476A>C (p.Asp5159Ala)
c.15425A>C (p.Asp5142Ala)
c.15422A>C (p.Asp5141Ala)
c.15389A>C (p.Asp5130Ala)
c.15386A>C (p.Asp5129Ala)
c.15353A>C (p.Asp5118Ala)
c.15488A>C (p.Asp5163Ala)
c.15461A>C (p.Asp5154Ala)
c.15407A>C (p.Asp5136Ala)
c.15374A>C (p.Asp5125Ala)
c.15350A>C (p.Asp5117Ala)
c.15302A>C (p.Asp5101Ala)
c.15251A>C (p.Asp5084Ala)
 gnomAD v4
1g.19078059C>ACA338748344UBR4c.15241G>T (p.Asp5081Tyr)
c.2362G>T (p.Asp788Tyr)
c.466G>T (p.Asp156Tyr)
n.3248G>T
c.15394G>T (p.Asp5132Tyr)
c.15391G>T (p.Asp5131Tyr)
c.15379G>T (p.Asp5127Tyr)
c.15376G>T (p.Asp5126Tyr)
c.15370G>T (p.Asp5124Tyr)
c.15361G>T (p.Asp5121Tyr)
c.15310G>T (p.Asp5104Tyr)
c.15307G>T (p.Asp5103Tyr)
c.15274G>T (p.Asp5092Tyr)
c.15271G>T (p.Asp5091Tyr)
c.15238G>T (p.Asp5080Tyr)
c.15508G>T (p.Asp5170Tyr)
c.15505G>T (p.Asp5169Tyr)
c.15493G>T (p.Asp5165Tyr)
c.15490G>T (p.Asp5164Tyr)
c.15484G>T (p.Asp5162Tyr)
c.15475G>T (p.Asp5159Tyr)
c.15424G>T (p.Asp5142Tyr)
c.15421G>T (p.Asp5141Tyr)
c.15388G>T (p.Asp5130Tyr)
c.15385G>T (p.Asp5129Tyr)
c.15352G>T (p.Asp5118Tyr)
c.15487G>T (p.Asp5163Tyr)
c.15460G>T (p.Asp5154Tyr)
c.15406G>T (p.Asp5136Tyr)
c.15373G>T (p.Asp5125Tyr)
c.15349G>T (p.Asp5117Tyr)
c.15301G>T (p.Asp5101Tyr)
c.15250G>T (p.Asp5084Tyr)
1g.19078059C>GCA338748343UBR4c.15241G>C (p.Asp5081His)
c.2362G>C (p.Asp788His)
c.466G>C (p.Asp156His)
n.3248G>C
c.15394G>C (p.Asp5132His)
c.15391G>C (p.Asp5131His)
c.15379G>C (p.Asp5127His)
c.15376G>C (p.Asp5126His)
c.15370G>C (p.Asp5124His)
c.15361G>C (p.Asp5121His)
c.15310G>C (p.Asp5104His)
c.15307G>C (p.Asp5103His)
c.15274G>C (p.Asp5092His)
c.15271G>C (p.Asp5091His)
c.15238G>C (p.Asp5080His)
c.15508G>C (p.Asp5170His)
c.15505G>C (p.Asp5169His)
c.15493G>C (p.Asp5165His)
c.15490G>C (p.Asp5164His)
c.15484G>C (p.Asp5162His)
c.15475G>C (p.Asp5159His)
c.15424G>C (p.Asp5142His)
c.15421G>C (p.Asp5141His)
c.15388G>C (p.Asp5130His)
c.15385G>C (p.Asp5129His)
c.15352G>C (p.Asp5118His)
c.15487G>C (p.Asp5163His)
c.15460G>C (p.Asp5154His)
c.15406G>C (p.Asp5136His)
c.15373G>C (p.Asp5125His)
c.15349G>C (p.Asp5117His)
c.15301G>C (p.Asp5101His)
c.15250G>C (p.Asp5084His)
1g.19078059C>TCA338748341UBR4c.15241G>A (p.Asp5081Asn)
c.2362G>A (p.Asp788Asn)
c.466G>A (p.Asp156Asn)
n.3248G>A
c.15394G>A (p.Asp5132Asn)
c.15391G>A (p.Asp5131Asn)
c.15379G>A (p.Asp5127Asn)
c.15376G>A (p.Asp5126Asn)
c.15370G>A (p.Asp5124Asn)
c.15361G>A (p.Asp5121Asn)
c.15310G>A (p.Asp5104Asn)
c.15307G>A (p.Asp5103Asn)
c.15274G>A (p.Asp5092Asn)
c.15271G>A (p.Asp5091Asn)
c.15238G>A (p.Asp5080Asn)
c.15508G>A (p.Asp5170Asn)
c.15505G>A (p.Asp5169Asn)
c.15493G>A (p.Asp5165Asn)
c.15490G>A (p.Asp5164Asn)
c.15484G>A (p.Asp5162Asn)
c.15475G>A (p.Asp5159Asn)
c.15424G>A (p.Asp5142Asn)
c.15421G>A (p.Asp5141Asn)
c.15388G>A (p.Asp5130Asn)
c.15385G>A (p.Asp5129Asn)
c.15352G>A (p.Asp5118Asn)
c.15487G>A (p.Asp5163Asn)
c.15460G>A (p.Asp5154Asn)
c.15406G>A (p.Asp5136Asn)
c.15373G>A (p.Asp5125Asn)
c.15349G>A (p.Asp5117Asn)
c.15301G>A (p.Asp5101Asn)
c.15250G>A (p.Asp5084Asn)
1g.19078060T>ACA416453171UBR4c.15240A>T (p.Thr5080=)
c.2361A>T (p.Thr787=)
c.465A>T (p.Thr155=)
n.3247A>T
c.15393A>T (p.Thr5131=)
c.15390A>T (p.Thr5130=)
c.15378A>T (p.Thr5126=)
c.15375A>T (p.Thr5125=)
c.15369A>T (p.Thr5123=)
c.15360A>T (p.Thr5120=)
c.15309A>T (p.Thr5103=)
c.15306A>T (p.Thr5102=)
c.15273A>T (p.Thr5091=)
c.15270A>T (p.Thr5090=)
c.15237A>T (p.Thr5079=)
c.15507A>T (p.Thr5169=)
c.15504A>T (p.Thr5168=)
c.15492A>T (p.Thr5164=)
c.15489A>T (p.Thr5163=)
c.15483A>T (p.Thr5161=)
c.15474A>T (p.Thr5158=)
c.15423A>T (p.Thr5141=)
c.15420A>T (p.Thr5140=)
c.15387A>T (p.Thr5129=)
c.15384A>T (p.Thr5128=)
c.15351A>T (p.Thr5117=)
c.15486A>T (p.Thr5162=)
c.15459A>T (p.Thr5153=)
c.15405A>T (p.Thr5135=)
c.15372A>T (p.Thr5124=)
c.15348A>T (p.Thr5116=)
c.15300A>T (p.Thr5100=)
c.15249A>T (p.Thr5083=)
1g.19078060T>CCA416453173UBR4c.15240A>G (p.Thr5080=)
c.2361A>G (p.Thr787=)
c.465A>G (p.Thr155=)
n.3247A>G
c.15393A>G (p.Thr5131=)
c.15390A>G (p.Thr5130=)
c.15378A>G (p.Thr5126=)
c.15375A>G (p.Thr5125=)
c.15369A>G (p.Thr5123=)
c.15360A>G (p.Thr5120=)
c.15309A>G (p.Thr5103=)
c.15306A>G (p.Thr5102=)
c.15273A>G (p.Thr5091=)
c.15270A>G (p.Thr5090=)
c.15237A>G (p.Thr5079=)
c.15507A>G (p.Thr5169=)
c.15504A>G (p.Thr5168=)
c.15492A>G (p.Thr5164=)
c.15489A>G (p.Thr5163=)
c.15483A>G (p.Thr5161=)
c.15474A>G (p.Thr5158=)
c.15423A>G (p.Thr5141=)
c.15420A>G (p.Thr5140=)
c.15387A>G (p.Thr5129=)
c.15384A>G (p.Thr5128=)
c.15351A>G (p.Thr5117=)
c.15486A>G (p.Thr5162=)
c.15459A>G (p.Thr5153=)
c.15405A>G (p.Thr5135=)
c.15372A>G (p.Thr5124=)
c.15348A>G (p.Thr5116=)
c.15300A>G (p.Thr5100=)
c.15249A>G (p.Thr5083=)
1g.19078060T>GCA416453172UBR4c.15240A>C (p.Thr5080=)
c.2361A>C (p.Thr787=)
c.465A>C (p.Thr155=)
n.3247A>C
c.15393A>C (p.Thr5131=)
c.15390A>C (p.Thr5130=)
c.15378A>C (p.Thr5126=)
c.15375A>C (p.Thr5125=)
c.15369A>C (p.Thr5123=)
c.15360A>C (p.Thr5120=)
c.15309A>C (p.Thr5103=)
c.15306A>C (p.Thr5102=)
c.15273A>C (p.Thr5091=)
c.15270A>C (p.Thr5090=)
c.15237A>C (p.Thr5079=)
c.15507A>C (p.Thr5169=)
c.15504A>C (p.Thr5168=)
c.15492A>C (p.Thr5164=)
c.15489A>C (p.Thr5163=)
c.15483A>C (p.Thr5161=)
c.15474A>C (p.Thr5158=)
c.15423A>C (p.Thr5141=)
c.15420A>C (p.Thr5140=)
c.15387A>C (p.Thr5129=)
c.15384A>C (p.Thr5128=)
c.15351A>C (p.Thr5117=)
c.15486A>C (p.Thr5162=)
c.15459A>C (p.Thr5153=)
c.15405A>C (p.Thr5135=)
c.15372A>C (p.Thr5124=)
c.15348A>C (p.Thr5116=)
c.15300A>C (p.Thr5100=)
c.15249A>C (p.Thr5083=)
1g.19078061G>ACA338748347UBR4c.15239C>T (p.Thr5080Ile)
c.2360C>T (p.Thr787Ile)
c.464C>T (p.Thr155Ile)
n.3246C>T
c.15392C>T (p.Thr5131Ile)
c.15389C>T (p.Thr5130Ile)
c.15377C>T (p.Thr5126Ile)
c.15374C>T (p.Thr5125Ile)
c.15368C>T (p.Thr5123Ile)
c.15359C>T (p.Thr5120Ile)
c.15308C>T (p.Thr5103Ile)
c.15305C>T (p.Thr5102Ile)
c.15272C>T (p.Thr5091Ile)
c.15269C>T (p.Thr5090Ile)
c.15236C>T (p.Thr5079Ile)
c.15506C>T (p.Thr5169Ile)
c.15503C>T (p.Thr5168Ile)
c.15491C>T (p.Thr5164Ile)
c.15488C>T (p.Thr5163Ile)
c.15482C>T (p.Thr5161Ile)
c.15473C>T (p.Thr5158Ile)
c.15422C>T (p.Thr5141Ile)
c.15419C>T (p.Thr5140Ile)
c.15386C>T (p.Thr5129Ile)
c.15383C>T (p.Thr5128Ile)
c.15350C>T (p.Thr5117Ile)
c.15485C>T (p.Thr5162Ile)
c.15458C>T (p.Thr5153Ile)
c.15404C>T (p.Thr5135Ile)
c.15371C>T (p.Thr5124Ile)
c.15347C>T (p.Thr5116Ile)
c.15299C>T (p.Thr5100Ile)
c.15248C>T (p.Thr5083Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.19078061G>CCA338748349UBR4c.15239C>G (p.Thr5080Arg)
c.2360C>G (p.Thr787Arg)
c.464C>G (p.Thr155Arg)
n.3246C>G
c.15392C>G (p.Thr5131Arg)
c.15389C>G (p.Thr5130Arg)
c.15377C>G (p.Thr5126Arg)
c.15374C>G (p.Thr5125Arg)
c.15368C>G (p.Thr5123Arg)
c.15359C>G (p.Thr5120Arg)
c.15308C>G (p.Thr5103Arg)
c.15305C>G (p.Thr5102Arg)
c.15272C>G (p.Thr5091Arg)
c.15269C>G (p.Thr5090Arg)
c.15236C>G (p.Thr5079Arg)
c.15506C>G (p.Thr5169Arg)
c.15503C>G (p.Thr5168Arg)
c.15491C>G (p.Thr5164Arg)
c.15488C>G (p.Thr5163Arg)
c.15482C>G (p.Thr5161Arg)
c.15473C>G (p.Thr5158Arg)
c.15422C>G (p.Thr5141Arg)
c.15419C>G (p.Thr5140Arg)
c.15386C>G (p.Thr5129Arg)
c.15383C>G (p.Thr5128Arg)
c.15350C>G (p.Thr5117Arg)
c.15485C>G (p.Thr5162Arg)
c.15458C>G (p.Thr5153Arg)
c.15404C>G (p.Thr5135Arg)
c.15371C>G (p.Thr5124Arg)
c.15347C>G (p.Thr5116Arg)
c.15299C>G (p.Thr5100Arg)
c.15248C>G (p.Thr5083Arg)
1g.19078061G=CA1156956090UBR4c.15239C= (p.Thr5080=)
c.2360C= (p.Thr787=)
c.464C= (p.Thr155=)
n.3246C=
c.15392C= (p.Thr5131=)
c.15389C= (p.Thr5130=)
c.15377C= (p.Thr5126=)
c.15374C= (p.Thr5125=)
c.15368C= (p.Thr5123=)
c.15359C= (p.Thr5120=)
c.15308C= (p.Thr5103=)
c.15305C= (p.Thr5102=)
c.15272C= (p.Thr5091=)
c.15269C= (p.Thr5090=)
c.15236C= (p.Thr5079=)
c.15506C= (p.Thr5169=)
c.15503C= (p.Thr5168=)
c.15491C= (p.Thr5164=)
c.15488C= (p.Thr5163=)
c.15482C= (p.Thr5161=)
c.15473C= (p.Thr5158=)
c.15422C= (p.Thr5141=)
c.15419C= (p.Thr5140=)
c.15386C= (p.Thr5129=)
c.15383C= (p.Thr5128=)
c.15350C= (p.Thr5117=)
c.15485C= (p.Thr5162=)
c.15458C= (p.Thr5153=)
c.15404C= (p.Thr5135=)
c.15371C= (p.Thr5124=)
c.15347C= (p.Thr5116=)
c.15299C= (p.Thr5100=)
c.15248C= (p.Thr5083=)
1g.19078061G>TCA338748350UBR4c.15239C>A (p.Thr5080Lys)
c.2360C>A (p.Thr787Lys)
c.464C>A (p.Thr155Lys)
n.3246C>A
c.15392C>A (p.Thr5131Lys)
c.15389C>A (p.Thr5130Lys)
c.15377C>A (p.Thr5126Lys)
c.15374C>A (p.Thr5125Lys)
c.15368C>A (p.Thr5123Lys)
c.15359C>A (p.Thr5120Lys)
c.15308C>A (p.Thr5103Lys)
c.15305C>A (p.Thr5102Lys)
c.15272C>A (p.Thr5091Lys)
c.15269C>A (p.Thr5090Lys)
c.15236C>A (p.Thr5079Lys)
c.15506C>A (p.Thr5169Lys)
c.15503C>A (p.Thr5168Lys)
c.15491C>A (p.Thr5164Lys)
c.15488C>A (p.Thr5163Lys)
c.15482C>A (p.Thr5161Lys)
c.15473C>A (p.Thr5158Lys)
c.15422C>A (p.Thr5141Lys)
c.15419C>A (p.Thr5140Lys)
c.15386C>A (p.Thr5129Lys)
c.15383C>A (p.Thr5128Lys)
c.15350C>A (p.Thr5117Lys)
c.15485C>A (p.Thr5162Lys)
c.15458C>A (p.Thr5153Lys)
c.15404C>A (p.Thr5135Lys)
c.15371C>A (p.Thr5124Lys)
c.15347C>A (p.Thr5116Lys)
c.15299C>A (p.Thr5100Lys)
c.15248C>A (p.Thr5083Lys)
1g.19078062T>ACA338748351UBR4c.15238A>T (p.Thr5080Ser)
c.2359A>T (p.Thr787Ser)
c.463A>T (p.Thr155Ser)
n.3245A>T
c.15391A>T (p.Thr5131Ser)
c.15388A>T (p.Thr5130Ser)
c.15376A>T (p.Thr5126Ser)
c.15373A>T (p.Thr5125Ser)
c.15367A>T (p.Thr5123Ser)
c.15358A>T (p.Thr5120Ser)
c.15307A>T (p.Thr5103Ser)
c.15304A>T (p.Thr5102Ser)
c.15271A>T (p.Thr5091Ser)
c.15268A>T (p.Thr5090Ser)
c.15235A>T (p.Thr5079Ser)
c.15505A>T (p.Thr5169Ser)
c.15502A>T (p.Thr5168Ser)
c.15490A>T (p.Thr5164Ser)
c.15487A>T (p.Thr5163Ser)
c.15481A>T (p.Thr5161Ser)
c.15472A>T (p.Thr5158Ser)
c.15421A>T (p.Thr5141Ser)
c.15418A>T (p.Thr5140Ser)
c.15385A>T (p.Thr5129Ser)
c.15382A>T (p.Thr5128Ser)
c.15349A>T (p.Thr5117Ser)
c.15484A>T (p.Thr5162Ser)
c.15457A>T (p.Thr5153Ser)
c.15403A>T (p.Thr5135Ser)
c.15370A>T (p.Thr5124Ser)
c.15346A>T (p.Thr5116Ser)
c.15298A>T (p.Thr5100Ser)
c.15247A>T (p.Thr5083Ser)
1g.19078062T>CCA338748352UBR4c.15238A>G (p.Thr5080Ala)
c.2359A>G (p.Thr787Ala)
c.463A>G (p.Thr155Ala)
n.3245A>G
c.15391A>G (p.Thr5131Ala)
c.15388A>G (p.Thr5130Ala)
c.15376A>G (p.Thr5126Ala)
c.15373A>G (p.Thr5125Ala)
c.15367A>G (p.Thr5123Ala)
c.15358A>G (p.Thr5120Ala)
c.15307A>G (p.Thr5103Ala)
c.15304A>G (p.Thr5102Ala)
c.15271A>G (p.Thr5091Ala)
c.15268A>G (p.Thr5090Ala)
c.15235A>G (p.Thr5079Ala)
c.15505A>G (p.Thr5169Ala)
c.15502A>G (p.Thr5168Ala)
c.15490A>G (p.Thr5164Ala)
c.15487A>G (p.Thr5163Ala)
c.15481A>G (p.Thr5161Ala)
c.15472A>G (p.Thr5158Ala)
c.15421A>G (p.Thr5141Ala)
c.15418A>G (p.Thr5140Ala)
c.15385A>G (p.Thr5129Ala)
c.15382A>G (p.Thr5128Ala)
c.15349A>G (p.Thr5117Ala)
c.15484A>G (p.Thr5162Ala)
c.15457A>G (p.Thr5153Ala)
c.15403A>G (p.Thr5135Ala)
c.15370A>G (p.Thr5124Ala)
c.15346A>G (p.Thr5116Ala)
c.15298A>G (p.Thr5100Ala)
c.15247A>G (p.Thr5083Ala)
1g.19078062T>GCA338748353UBR4c.15238A>C (p.Thr5080Pro)
c.2359A>C (p.Thr787Pro)
c.463A>C (p.Thr155Pro)
n.3245A>C
c.15391A>C (p.Thr5131Pro)
c.15388A>C (p.Thr5130Pro)
c.15376A>C (p.Thr5126Pro)
c.15373A>C (p.Thr5125Pro)
c.15367A>C (p.Thr5123Pro)
c.15358A>C (p.Thr5120Pro)
c.15307A>C (p.Thr5103Pro)
c.15304A>C (p.Thr5102Pro)
c.15271A>C (p.Thr5091Pro)
c.15268A>C (p.Thr5090Pro)
c.15235A>C (p.Thr5079Pro)
c.15505A>C (p.Thr5169Pro)
c.15502A>C (p.Thr5168Pro)
c.15490A>C (p.Thr5164Pro)
c.15487A>C (p.Thr5163Pro)
c.15481A>C (p.Thr5161Pro)
c.15472A>C (p.Thr5158Pro)
c.15421A>C (p.Thr5141Pro)
c.15418A>C (p.Thr5140Pro)
c.15385A>C (p.Thr5129Pro)
c.15382A>C (p.Thr5128Pro)
c.15349A>C (p.Thr5117Pro)
c.15484A>C (p.Thr5162Pro)
c.15457A>C (p.Thr5153Pro)
c.15403A>C (p.Thr5135Pro)
c.15370A>C (p.Thr5124Pro)
c.15346A>C (p.Thr5116Pro)
c.15298A>C (p.Thr5100Pro)
c.15247A>C (p.Thr5083Pro)
1g.19078063C>ACA416453176UBR4c.15237G>T (p.Leu5079=)
c.2358G>T (p.Leu786=)
c.462G>T (p.Leu154=)
n.3244G>T
c.15390G>T (p.Leu5130=)
c.15387G>T (p.Leu5129=)
c.15375G>T (p.Leu5125=)
c.15372G>T (p.Leu5124=)
c.15366G>T (p.Leu5122=)
c.15357G>T (p.Leu5119=)
c.15306G>T (p.Leu5102=)
c.15303G>T (p.Leu5101=)
c.15270G>T (p.Leu5090=)
c.15267G>T (p.Leu5089=)
c.15234G>T (p.Leu5078=)
c.15504G>T (p.Leu5168=)
c.15501G>T (p.Leu5167=)
c.15489G>T (p.Leu5163=)
c.15486G>T (p.Leu5162=)
c.15480G>T (p.Leu5160=)
c.15471G>T (p.Leu5157=)
c.15420G>T (p.Leu5140=)
c.15417G>T (p.Leu5139=)
c.15384G>T (p.Leu5128=)
c.15381G>T (p.Leu5127=)
c.15348G>T (p.Leu5116=)
c.15483G>T (p.Leu5161=)
c.15456G>T (p.Leu5152=)
c.15402G>T (p.Leu5134=)
c.15369G>T (p.Leu5123=)
c.15345G>T (p.Leu5115=)
c.15297G>T (p.Leu5099=)
c.15246G>T (p.Leu5082=)
1g.19078063C>GCA416453174UBR4c.15237G>C (p.Leu5079=)
c.2358G>C (p.Leu786=)
c.462G>C (p.Leu154=)
n.3244G>C
c.15390G>C (p.Leu5130=)
c.15387G>C (p.Leu5129=)
c.15375G>C (p.Leu5125=)
c.15372G>C (p.Leu5124=)
c.15366G>C (p.Leu5122=)
c.15357G>C (p.Leu5119=)
c.15306G>C (p.Leu5102=)
c.15303G>C (p.Leu5101=)
c.15270G>C (p.Leu5090=)
c.15267G>C (p.Leu5089=)
c.15234G>C (p.Leu5078=)
c.15504G>C (p.Leu5168=)
c.15501G>C (p.Leu5167=)
c.15489G>C (p.Leu5163=)
c.15486G>C (p.Leu5162=)
c.15480G>C (p.Leu5160=)
c.15471G>C (p.Leu5157=)
c.15420G>C (p.Leu5140=)
c.15417G>C (p.Leu5139=)
c.15384G>C (p.Leu5128=)
c.15381G>C (p.Leu5127=)
c.15348G>C (p.Leu5116=)
c.15483G>C (p.Leu5161=)
c.15456G>C (p.Leu5152=)
c.15402G>C (p.Leu5134=)
c.15369G>C (p.Leu5123=)
c.15345G>C (p.Leu5115=)
c.15297G>C (p.Leu5099=)
c.15246G>C (p.Leu5082=)
 dbSNP
1g.19078063C>TCA416453175UBR4c.15237G>A (p.Leu5079=)
c.2358G>A (p.Leu786=)
c.462G>A (p.Leu154=)
n.3244G>A
c.15390G>A (p.Leu5130=)
c.15387G>A (p.Leu5129=)
c.15375G>A (p.Leu5125=)
c.15372G>A (p.Leu5124=)
c.15366G>A (p.Leu5122=)
c.15357G>A (p.Leu5119=)
c.15306G>A (p.Leu5102=)
c.15303G>A (p.Leu5101=)
c.15270G>A (p.Leu5090=)
c.15267G>A (p.Leu5089=)
c.15234G>A (p.Leu5078=)
c.15504G>A (p.Leu5168=)
c.15501G>A (p.Leu5167=)
c.15489G>A (p.Leu5163=)
c.15486G>A (p.Leu5162=)
c.15480G>A (p.Leu5160=)
c.15471G>A (p.Leu5157=)
c.15420G>A (p.Leu5140=)
c.15417G>A (p.Leu5139=)
c.15384G>A (p.Leu5128=)
c.15381G>A (p.Leu5127=)
c.15348G>A (p.Leu5116=)
c.15483G>A (p.Leu5161=)
c.15456G>A (p.Leu5152=)
c.15402G>A (p.Leu5134=)
c.15369G>A (p.Leu5123=)
c.15345G>A (p.Leu5115=)
c.15297G>A (p.Leu5099=)
c.15246G>A (p.Leu5082=)
 gnomAD v4
1g.19078064A=CA1146128942UBR4c.15236T= (p.Leu5079=)
c.2357T= (p.Leu786=)
c.461T= (p.Leu154=)
n.3243T=
c.15389T= (p.Leu5130=)
c.15386T= (p.Leu5129=)
c.15374T= (p.Leu5125=)
c.15371T= (p.Leu5124=)
c.15365T= (p.Leu5122=)
c.15356T= (p.Leu5119=)
c.15305T= (p.Leu5102=)
c.15302T= (p.Leu5101=)
c.15269T= (p.Leu5090=)
c.15266T= (p.Leu5089=)
c.15233T= (p.Leu5078=)
c.15503T= (p.Leu5168=)
c.15500T= (p.Leu5167=)
c.15488T= (p.Leu5163=)
c.15485T= (p.Leu5162=)
c.15479T= (p.Leu5160=)
c.15470T= (p.Leu5157=)
c.15419T= (p.Leu5140=)
c.15416T= (p.Leu5139=)
c.15383T= (p.Leu5128=)
c.15380T= (p.Leu5127=)
c.15347T= (p.Leu5116=)
c.15482T= (p.Leu5161=)
c.15455T= (p.Leu5152=)
c.15401T= (p.Leu5134=)
c.15368T= (p.Leu5123=)
c.15344T= (p.Leu5115=)
c.15296T= (p.Leu5099=)
c.15245T= (p.Leu5082=)
1g.19078064A>CCA338748354UBR4c.15236T>G (p.Leu5079Arg)
c.2357T>G (p.Leu786Arg)
c.461T>G (p.Leu154Arg)
n.3243T>G
c.15389T>G (p.Leu5130Arg)
c.15386T>G (p.Leu5129Arg)
c.15374T>G (p.Leu5125Arg)
c.15371T>G (p.Leu5124Arg)
c.15365T>G (p.Leu5122Arg)
c.15356T>G (p.Leu5119Arg)
c.15305T>G (p.Leu5102Arg)
c.15302T>G (p.Leu5101Arg)
c.15269T>G (p.Leu5090Arg)
c.15266T>G (p.Leu5089Arg)
c.15233T>G (p.Leu5078Arg)
c.15503T>G (p.Leu5168Arg)
c.15500T>G (p.Leu5167Arg)
c.15488T>G (p.Leu5163Arg)
c.15485T>G (p.Leu5162Arg)
c.15479T>G (p.Leu5160Arg)
c.15470T>G (p.Leu5157Arg)
c.15419T>G (p.Leu5140Arg)
c.15416T>G (p.Leu5139Arg)
c.15383T>G (p.Leu5128Arg)
c.15380T>G (p.Leu5127Arg)
c.15347T>G (p.Leu5116Arg)
c.15482T>G (p.Leu5161Arg)
c.15455T>G (p.Leu5152Arg)
c.15401T>G (p.Leu5134Arg)
c.15368T>G (p.Leu5123Arg)
c.15344T>G (p.Leu5115Arg)
c.15296T>G (p.Leu5099Arg)
c.15245T>G (p.Leu5082Arg)
1g.19078064A>GCA338748355UBR4c.15236T>C (p.Leu5079Pro)
c.2357T>C (p.Leu786Pro)
c.461T>C (p.Leu154Pro)
n.3243T>C
c.15389T>C (p.Leu5130Pro)
c.15386T>C (p.Leu5129Pro)
c.15374T>C (p.Leu5125Pro)
c.15371T>C (p.Leu5124Pro)
c.15365T>C (p.Leu5122Pro)
c.15356T>C (p.Leu5119Pro)
c.15305T>C (p.Leu5102Pro)
c.15302T>C (p.Leu5101Pro)
c.15269T>C (p.Leu5090Pro)
c.15266T>C (p.Leu5089Pro)
c.15233T>C (p.Leu5078Pro)
c.15503T>C (p.Leu5168Pro)
c.15500T>C (p.Leu5167Pro)
c.15488T>C (p.Leu5163Pro)
c.15485T>C (p.Leu5162Pro)
c.15479T>C (p.Leu5160Pro)
c.15470T>C (p.Leu5157Pro)
c.15419T>C (p.Leu5140Pro)
c.15416T>C (p.Leu5139Pro)
c.15383T>C (p.Leu5128Pro)
c.15380T>C (p.Leu5127Pro)
c.15347T>C (p.Leu5116Pro)
c.15482T>C (p.Leu5161Pro)
c.15455T>C (p.Leu5152Pro)
c.15401T>C (p.Leu5134Pro)
c.15368T>C (p.Leu5123Pro)
c.15344T>C (p.Leu5115Pro)
c.15296T>C (p.Leu5099Pro)
c.15245T>C (p.Leu5082Pro)
1g.19078064A>TCA18791090UBR4c.15236T>A (p.Leu5079Gln)
c.2357T>A (p.Leu786Gln)
c.461T>A (p.Leu154Gln)
n.3243T>A
c.15389T>A (p.Leu5130Gln)
c.15386T>A (p.Leu5129Gln)
c.15374T>A (p.Leu5125Gln)
c.15371T>A (p.Leu5124Gln)
c.15365T>A (p.Leu5122Gln)
c.15356T>A (p.Leu5119Gln)
c.15305T>A (p.Leu5102Gln)
c.15302T>A (p.Leu5101Gln)
c.15269T>A (p.Leu5090Gln)
c.15266T>A (p.Leu5089Gln)
c.15233T>A (p.Leu5078Gln)
c.15503T>A (p.Leu5168Gln)
c.15500T>A (p.Leu5167Gln)
c.15488T>A (p.Leu5163Gln)
c.15485T>A (p.Leu5162Gln)
c.15479T>A (p.Leu5160Gln)
c.15470T>A (p.Leu5157Gln)
c.15419T>A (p.Leu5140Gln)
c.15416T>A (p.Leu5139Gln)
c.15383T>A (p.Leu5128Gln)
c.15380T>A (p.Leu5127Gln)
c.15347T>A (p.Leu5116Gln)
c.15482T>A (p.Leu5161Gln)
c.15455T>A (p.Leu5152Gln)
c.15401T>A (p.Leu5134Gln)
c.15368T>A (p.Leu5123Gln)
c.15344T>A (p.Leu5115Gln)
c.15296T>A (p.Leu5099Gln)
c.15245T>A (p.Leu5082Gln)
 dbSNP
1g.19078065G>ACA416453177UBR4c.15235C>T (p.Leu5079=)
c.2356C>T (p.Leu786=)
c.460C>T (p.Leu154=)
n.3242C>T
c.15388C>T (p.Leu5130=)
c.15385C>T (p.Leu5129=)
c.15373C>T (p.Leu5125=)
c.15370C>T (p.Leu5124=)
c.15364C>T (p.Leu5122=)
c.15355C>T (p.Leu5119=)
c.15304C>T (p.Leu5102=)
c.15301C>T (p.Leu5101=)
c.15268C>T (p.Leu5090=)
c.15265C>T (p.Leu5089=)
c.15232C>T (p.Leu5078=)
c.15502C>T (p.Leu5168=)
c.15499C>T (p.Leu5167=)
c.15487C>T (p.Leu5163=)
c.15484C>T (p.Leu5162=)
c.15478C>T (p.Leu5160=)
c.15469C>T (p.Leu5157=)
c.15418C>T (p.Leu5140=)
c.15415C>T (p.Leu5139=)
c.15382C>T (p.Leu5128=)
c.15379C>T (p.Leu5127=)
c.15346C>T (p.Leu5116=)
c.15481C>T (p.Leu5161=)
c.15454C>T (p.Leu5152=)
c.15400C>T (p.Leu5134=)
c.15367C>T (p.Leu5123=)
c.15343C>T (p.Leu5115=)
c.15295C>T (p.Leu5099=)
c.15244C>T (p.Leu5082=)
1g.19078065G>CCA338748357UBR4c.15235C>G (p.Leu5079Val)
c.2356C>G (p.Leu786Val)
c.460C>G (p.Leu154Val)
n.3242C>G
c.15388C>G (p.Leu5130Val)
c.15385C>G (p.Leu5129Val)
c.15373C>G (p.Leu5125Val)
c.15370C>G (p.Leu5124Val)
c.15364C>G (p.Leu5122Val)
c.15355C>G (p.Leu5119Val)
c.15304C>G (p.Leu5102Val)
c.15301C>G (p.Leu5101Val)
c.15268C>G (p.Leu5090Val)
c.15265C>G (p.Leu5089Val)
c.15232C>G (p.Leu5078Val)
c.15502C>G (p.Leu5168Val)
c.15499C>G (p.Leu5167Val)
c.15487C>G (p.Leu5163Val)
c.15484C>G (p.Leu5162Val)
c.15478C>G (p.Leu5160Val)
c.15469C>G (p.Leu5157Val)
c.15418C>G (p.Leu5140Val)
c.15415C>G (p.Leu5139Val)
c.15382C>G (p.Leu5128Val)
c.15379C>G (p.Leu5127Val)
c.15346C>G (p.Leu5116Val)
c.15481C>G (p.Leu5161Val)
c.15454C>G (p.Leu5152Val)
c.15400C>G (p.Leu5134Val)
c.15367C>G (p.Leu5123Val)
c.15343C>G (p.Leu5115Val)
c.15295C>G (p.Leu5099Val)
c.15244C>G (p.Leu5082Val)
1g.19078065G>TCA338748358UBR4c.15235C>A (p.Leu5079Met)
c.2356C>A (p.Leu786Met)
c.460C>A (p.Leu154Met)
n.3242C>A
c.15388C>A (p.Leu5130Met)
c.15385C>A (p.Leu5129Met)
c.15373C>A (p.Leu5125Met)
c.15370C>A (p.Leu5124Met)
c.15364C>A (p.Leu5122Met)
c.15355C>A (p.Leu5119Met)
c.15304C>A (p.Leu5102Met)
c.15301C>A (p.Leu5101Met)
c.15268C>A (p.Leu5090Met)
c.15265C>A (p.Leu5089Met)
c.15232C>A (p.Leu5078Met)
c.15502C>A (p.Leu5168Met)
c.15499C>A (p.Leu5167Met)
c.15487C>A (p.Leu5163Met)
c.15484C>A (p.Leu5162Met)
c.15478C>A (p.Leu5160Met)
c.15469C>A (p.Leu5157Met)
c.15418C>A (p.Leu5140Met)
c.15415C>A (p.Leu5139Met)
c.15382C>A (p.Leu5128Met)
c.15379C>A (p.Leu5127Met)
c.15346C>A (p.Leu5116Met)
c.15481C>A (p.Leu5161Met)
c.15454C>A (p.Leu5152Met)
c.15400C>A (p.Leu5134Met)
c.15367C>A (p.Leu5123Met)
c.15343C>A (p.Leu5115Met)
c.15295C>A (p.Leu5099Met)
c.15244C>A (p.Leu5082Met)
1g.19078066C>ACA338748361UBR4c.15234G>T (p.Arg5078Ser)
c.2355G>T (p.Arg785Ser)
c.459G>T (p.Arg153Ser)
n.3241G>T
c.15387G>T (p.Arg5129Ser)
c.15384G>T (p.Arg5128Ser)
c.15372G>T (p.Arg5124Ser)
c.15369G>T (p.Arg5123Ser)
c.15363G>T (p.Arg5121Ser)
c.15354G>T (p.Arg5118Ser)
c.15303G>T (p.Arg5101Ser)
c.15300G>T (p.Arg5100Ser)
c.15267G>T (p.Arg5089Ser)
c.15264G>T (p.Arg5088Ser)
c.15231G>T (p.Arg5077Ser)
c.15501G>T (p.Arg5167Ser)
c.15498G>T (p.Arg5166Ser)
c.15486G>T (p.Arg5162Ser)
c.15483G>T (p.Arg5161Ser)
c.15477G>T (p.Arg5159Ser)
c.15468G>T (p.Arg5156Ser)
c.15417G>T (p.Arg5139Ser)
c.15414G>T (p.Arg5138Ser)
c.15381G>T (p.Arg5127Ser)
c.15378G>T (p.Arg5126Ser)
c.15345G>T (p.Arg5115Ser)
c.15480G>T (p.Arg5160Ser)
c.15453G>T (p.Arg5151Ser)
c.15399G>T (p.Arg5133Ser)
c.15366G>T (p.Arg5122Ser)
c.15342G>T (p.Arg5114Ser)
c.15294G>T (p.Arg5098Ser)
c.15243G>T (p.Arg5081Ser)
1g.19078066C>GCA338748362UBR4c.15234G>C (p.Arg5078Ser)
c.2355G>C (p.Arg785Ser)
c.459G>C (p.Arg153Ser)
n.3241G>C
c.15387G>C (p.Arg5129Ser)
c.15384G>C (p.Arg5128Ser)
c.15372G>C (p.Arg5124Ser)
c.15369G>C (p.Arg5123Ser)
c.15363G>C (p.Arg5121Ser)
c.15354G>C (p.Arg5118Ser)
c.15303G>C (p.Arg5101Ser)
c.15300G>C (p.Arg5100Ser)
c.15267G>C (p.Arg5089Ser)
c.15264G>C (p.Arg5088Ser)
c.15231G>C (p.Arg5077Ser)
c.15501G>C (p.Arg5167Ser)
c.15498G>C (p.Arg5166Ser)
c.15486G>C (p.Arg5162Ser)
c.15483G>C (p.Arg5161Ser)
c.15477G>C (p.Arg5159Ser)
c.15468G>C (p.Arg5156Ser)
c.15417G>C (p.Arg5139Ser)
c.15414G>C (p.Arg5138Ser)
c.15381G>C (p.Arg5127Ser)
c.15378G>C (p.Arg5126Ser)
c.15345G>C (p.Arg5115Ser)
c.15480G>C (p.Arg5160Ser)
c.15453G>C (p.Arg5151Ser)
c.15399G>C (p.Arg5133Ser)
c.15366G>C (p.Arg5122Ser)
c.15342G>C (p.Arg5114Ser)
c.15294G>C (p.Arg5098Ser)
c.15243G>C (p.Arg5081Ser)
1g.19078066C>TCA416453178UBR4c.15234G>A (p.Arg5078=)
c.2355G>A (p.Arg785=)
c.459G>A (p.Arg153=)
n.3241G>A
c.15387G>A (p.Arg5129=)
c.15384G>A (p.Arg5128=)
c.15372G>A (p.Arg5124=)
c.15369G>A (p.Arg5123=)
c.15363G>A (p.Arg5121=)
c.15354G>A (p.Arg5118=)
c.15303G>A (p.Arg5101=)
c.15300G>A (p.Arg5100=)
c.15267G>A (p.Arg5089=)
c.15264G>A (p.Arg5088=)
c.15231G>A (p.Arg5077=)
c.15501G>A (p.Arg5167=)
c.15498G>A (p.Arg5166=)
c.15486G>A (p.Arg5162=)
c.15483G>A (p.Arg5161=)
c.15477G>A (p.Arg5159=)
c.15468G>A (p.Arg5156=)
c.15417G>A (p.Arg5139=)
c.15414G>A (p.Arg5138=)
c.15381G>A (p.Arg5127=)
c.15378G>A (p.Arg5126=)
c.15345G>A (p.Arg5115=)
c.15480G>A (p.Arg5160=)
c.15453G>A (p.Arg5151=)
c.15399G>A (p.Arg5133=)
c.15366G>A (p.Arg5122=)
c.15342G>A (p.Arg5114=)
c.15294G>A (p.Arg5098=)
c.15243G>A (p.Arg5081=)
1g.19078067C>ACA338748366UBR4c.15234-1G>T (n.15234-1G>T)
c.2355-1G>T (n.2355-1G>T)
c.459-1G>T (n.459-1G>T)
n.3240G>T
c.15387-1G>T (n.15387-1G>T)
c.15384-1G>T (n.15384-1G>T)
c.15372-1G>T (n.15372-1G>T)
c.15369-1G>T (n.15369-1G>T)
c.15363-1G>T (n.15363-1G>T)
c.15354-1G>T (n.15354-1G>T)
c.15303-1G>T (n.15303-1G>T)
c.15300-1G>T (n.15300-1G>T)
c.15267-1G>T (n.15267-1G>T)
c.15264-1G>T (n.15264-1G>T)
c.15231-1G>T (n.15231-1G>T)
c.15501-1G>T (n.15501-1G>T)
c.15498-1G>T (n.15498-1G>T)
c.15486-1G>T (n.15486-1G>T)
c.15483-1G>T (n.15483-1G>T)
c.15477-1G>T (n.15477-1G>T)
c.15468-1G>T (n.15468-1G>T)
c.15417-1G>T (n.15417-1G>T)
c.15414-1G>T (n.15414-1G>T)
c.15381-1G>T (n.15381-1G>T)
c.15378-1G>T (n.15378-1G>T)
c.15345-1G>T (n.15345-1G>T)
c.15480-1G>T (n.15480-1G>T)
c.15453-1G>T (n.15453-1G>T)
c.15399-1G>T (n.15399-1G>T)
c.15366-1G>T (n.15366-1G>T)
c.15342-1G>T (n.15342-1G>T)
c.15294-1G>T (n.15294-1G>T)
c.15243-1G>T (n.15243-1G>T)
1g.19078067C>GCA338748368UBR4c.15234-1G>C (n.15234-1G>C)
c.2355-1G>C (n.2355-1G>C)
c.459-1G>C (n.459-1G>C)
n.3240G>C
c.15387-1G>C (n.15387-1G>C)
c.15384-1G>C (n.15384-1G>C)
c.15372-1G>C (n.15372-1G>C)
c.15369-1G>C (n.15369-1G>C)
c.15363-1G>C (n.15363-1G>C)
c.15354-1G>C (n.15354-1G>C)
c.15303-1G>C (n.15303-1G>C)
c.15300-1G>C (n.15300-1G>C)
c.15267-1G>C (n.15267-1G>C)
c.15264-1G>C (n.15264-1G>C)
c.15231-1G>C (n.15231-1G>C)
c.15501-1G>C (n.15501-1G>C)
c.15498-1G>C (n.15498-1G>C)
c.15486-1G>C (n.15486-1G>C)
c.15483-1G>C (n.15483-1G>C)
c.15477-1G>C (n.15477-1G>C)
c.15468-1G>C (n.15468-1G>C)
c.15417-1G>C (n.15417-1G>C)
c.15414-1G>C (n.15414-1G>C)
c.15381-1G>C (n.15381-1G>C)
c.15378-1G>C (n.15378-1G>C)
c.15345-1G>C (n.15345-1G>C)
c.15480-1G>C (n.15480-1G>C)
c.15453-1G>C (n.15453-1G>C)
c.15399-1G>C (n.15399-1G>C)
c.15366-1G>C (n.15366-1G>C)
c.15342-1G>C (n.15342-1G>C)
c.15294-1G>C (n.15294-1G>C)
c.15243-1G>C (n.15243-1G>C)
1g.19078067C>TCA338748364UBR4c.15234-1G>A (n.15234-1G>A)
c.2355-1G>A (n.2355-1G>A)
c.459-1G>A (n.459-1G>A)
n.3240G>A
c.15387-1G>A (n.15387-1G>A)
c.15384-1G>A (n.15384-1G>A)
c.15372-1G>A (n.15372-1G>A)
c.15369-1G>A (n.15369-1G>A)
c.15363-1G>A (n.15363-1G>A)
c.15354-1G>A (n.15354-1G>A)
c.15303-1G>A (n.15303-1G>A)
c.15300-1G>A (n.15300-1G>A)
c.15267-1G>A (n.15267-1G>A)
c.15264-1G>A (n.15264-1G>A)
c.15231-1G>A (n.15231-1G>A)
c.15501-1G>A (n.15501-1G>A)
c.15498-1G>A (n.15498-1G>A)
c.15486-1G>A (n.15486-1G>A)
c.15483-1G>A (n.15483-1G>A)
c.15477-1G>A (n.15477-1G>A)
c.15468-1G>A (n.15468-1G>A)
c.15417-1G>A (n.15417-1G>A)
c.15414-1G>A (n.15414-1G>A)
c.15381-1G>A (n.15381-1G>A)
c.15378-1G>A (n.15378-1G>A)
c.15345-1G>A (n.15345-1G>A)
c.15480-1G>A (n.15480-1G>A)
c.15453-1G>A (n.15453-1G>A)
c.15399-1G>A (n.15399-1G>A)
c.15366-1G>A (n.15366-1G>A)
c.15342-1G>A (n.15342-1G>A)
c.15294-1G>A (n.15294-1G>A)
c.15243-1G>A (n.15243-1G>A)
1g.19078068T>ACA338748370UBR4c.15234-2A>T (n.15234-2A>T)
c.2355-2A>T (n.2355-2A>T)
c.459-2A>T (n.459-2A>T)
n.3239A>T
c.15387-2A>T (n.15387-2A>T)
c.15384-2A>T (n.15384-2A>T)
c.15372-2A>T (n.15372-2A>T)
c.15369-2A>T (n.15369-2A>T)
c.15363-2A>T (n.15363-2A>T)
c.15354-2A>T (n.15354-2A>T)
c.15303-2A>T (n.15303-2A>T)
c.15300-2A>T (n.15300-2A>T)
c.15267-2A>T (n.15267-2A>T)
c.15264-2A>T (n.15264-2A>T)
c.15231-2A>T (n.15231-2A>T)
c.15501-2A>T (n.15501-2A>T)
c.15498-2A>T (n.15498-2A>T)
c.15486-2A>T (n.15486-2A>T)
c.15483-2A>T (n.15483-2A>T)
c.15477-2A>T (n.15477-2A>T)
c.15468-2A>T (n.15468-2A>T)
c.15417-2A>T (n.15417-2A>T)
c.15414-2A>T (n.15414-2A>T)
c.15381-2A>T (n.15381-2A>T)
c.15378-2A>T (n.15378-2A>T)
c.15345-2A>T (n.15345-2A>T)
c.15480-2A>T (n.15480-2A>T)
c.15453-2A>T (n.15453-2A>T)
c.15399-2A>T (n.15399-2A>T)
c.15366-2A>T (n.15366-2A>T)
c.15342-2A>T (n.15342-2A>T)
c.15294-2A>T (n.15294-2A>T)
c.15243-2A>T (n.15243-2A>T)
1g.19078068T>CCA338748372UBR4c.15234-2A>G (n.15234-2A>G)
c.2355-2A>G (n.2355-2A>G)
c.459-2A>G (n.459-2A>G)
n.3239A>G
c.15387-2A>G (n.15387-2A>G)
c.15384-2A>G (n.15384-2A>G)
c.15372-2A>G (n.15372-2A>G)
c.15369-2A>G (n.15369-2A>G)
c.15363-2A>G (n.15363-2A>G)
c.15354-2A>G (n.15354-2A>G)
c.15303-2A>G (n.15303-2A>G)
c.15300-2A>G (n.15300-2A>G)
c.15267-2A>G (n.15267-2A>G)
c.15264-2A>G (n.15264-2A>G)
c.15231-2A>G (n.15231-2A>G)
c.15501-2A>G (n.15501-2A>G)
c.15498-2A>G (n.15498-2A>G)
c.15486-2A>G (n.15486-2A>G)
c.15483-2A>G (n.15483-2A>G)
c.15477-2A>G (n.15477-2A>G)
c.15468-2A>G (n.15468-2A>G)
c.15417-2A>G (n.15417-2A>G)
c.15414-2A>G (n.15414-2A>G)
c.15381-2A>G (n.15381-2A>G)
c.15378-2A>G (n.15378-2A>G)
c.15345-2A>G (n.15345-2A>G)
c.15480-2A>G (n.15480-2A>G)
c.15453-2A>G (n.15453-2A>G)
c.15399-2A>G (n.15399-2A>G)
c.15366-2A>G (n.15366-2A>G)
c.15342-2A>G (n.15342-2A>G)
c.15294-2A>G (n.15294-2A>G)
c.15243-2A>G (n.15243-2A>G)
1g.19078068T>GCA338748374UBR4c.15234-2A>C (n.15234-2A>C)
c.2355-2A>C (n.2355-2A>C)
c.459-2A>C (n.459-2A>C)
n.3239A>C
c.15387-2A>C (n.15387-2A>C)
c.15384-2A>C (n.15384-2A>C)
c.15372-2A>C (n.15372-2A>C)
c.15369-2A>C (n.15369-2A>C)
c.15363-2A>C (n.15363-2A>C)
c.15354-2A>C (n.15354-2A>C)
c.15303-2A>C (n.15303-2A>C)
c.15300-2A>C (n.15300-2A>C)
c.15267-2A>C (n.15267-2A>C)
c.15264-2A>C (n.15264-2A>C)
c.15231-2A>C (n.15231-2A>C)
c.15501-2A>C (n.15501-2A>C)
c.15498-2A>C (n.15498-2A>C)
c.15486-2A>C (n.15486-2A>C)
c.15483-2A>C (n.15483-2A>C)
c.15477-2A>C (n.15477-2A>C)
c.15468-2A>C (n.15468-2A>C)
c.15417-2A>C (n.15417-2A>C)
c.15414-2A>C (n.15414-2A>C)
c.15381-2A>C (n.15381-2A>C)
c.15378-2A>C (n.15378-2A>C)
c.15345-2A>C (n.15345-2A>C)
c.15480-2A>C (n.15480-2A>C)
c.15453-2A>C (n.15453-2A>C)
c.15399-2A>C (n.15399-2A>C)
c.15366-2A>C (n.15366-2A>C)
c.15342-2A>C (n.15342-2A>C)
c.15294-2A>C (n.15294-2A>C)
c.15243-2A>C (n.15243-2A>C)

Number of alleles fetched