Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28141460G>A | CA391380959 | HERC2 | c.11987C>T (p.Thr3996Ile) c.3698C>T (p.Thr1233Ile) c.11873C>T (p.Thr3958Ile) c.11972C>T (p.Thr3991Ile) c.11729C>T (p.Thr3910Ile) c.11504C>T (p.Thr3835Ile) c.9503C>T (p.Thr3168Ile) c.8732C>T (p.Thr2911Ile) c.6104C>T (p.Thr2035Ile) c.5153C>T (p.Thr1718Ile) | |
15 | g.28141460G>C | CA391380955 | HERC2 | c.11987C>G (p.Thr3996Ser) c.3698C>G (p.Thr1233Ser) c.11873C>G (p.Thr3958Ser) c.11972C>G (p.Thr3991Ser) c.11729C>G (p.Thr3910Ser) c.11504C>G (p.Thr3835Ser) c.9503C>G (p.Thr3168Ser) c.8732C>G (p.Thr2911Ser) c.6104C>G (p.Thr2035Ser) c.5153C>G (p.Thr1718Ser) | |
15 | g.28141460G>T | CA391380957 | HERC2 | c.11987C>A (p.Thr3996Asn) c.3698C>A (p.Thr1233Asn) c.11873C>A (p.Thr3958Asn) c.11972C>A (p.Thr3991Asn) c.11729C>A (p.Thr3910Asn) c.11504C>A (p.Thr3835Asn) c.9503C>A (p.Thr3168Asn) c.8732C>A (p.Thr2911Asn) c.6104C>A (p.Thr2035Asn) c.5153C>A (p.Thr1718Asn) | |
15 | g.28141461T>A | CA391380962 | HERC2 | c.11986A>T (p.Thr3996Ser) c.3697A>T (p.Thr1233Ser) c.11872A>T (p.Thr3958Ser) c.11971A>T (p.Thr3991Ser) c.11728A>T (p.Thr3910Ser) c.11503A>T (p.Thr3835Ser) c.9502A>T (p.Thr3168Ser) c.8731A>T (p.Thr2911Ser) c.6103A>T (p.Thr2035Ser) c.5152A>T (p.Thr1718Ser) | |
15 | g.28141461T>C | CA391380964 | HERC2 | c.11986A>G (p.Thr3996Ala) c.3697A>G (p.Thr1233Ala) c.11872A>G (p.Thr3958Ala) c.11971A>G (p.Thr3991Ala) c.11728A>G (p.Thr3910Ala) c.11503A>G (p.Thr3835Ala) c.9502A>G (p.Thr3168Ala) c.8731A>G (p.Thr2911Ala) c.6103A>G (p.Thr2035Ala) c.5152A>G (p.Thr1718Ala) | |
15 | g.28141461T>G | CA391380965 | HERC2 | c.11986A>C (p.Thr3996Pro) c.3697A>C (p.Thr1233Pro) c.11872A>C (p.Thr3958Pro) c.11971A>C (p.Thr3991Pro) c.11728A>C (p.Thr3910Pro) c.11503A>C (p.Thr3835Pro) c.9502A>C (p.Thr3168Pro) c.8731A>C (p.Thr2911Pro) c.6103A>C (p.Thr2035Pro) c.5152A>C (p.Thr1718Pro) | |
15 | g.28141462C>A | CA391380967 | HERC2 | c.11985G>T (p.Gln3995His) c.3696G>T (p.Gln1232His) c.11871G>T (p.Gln3957His) c.11970G>T (p.Gln3990His) c.11727G>T (p.Gln3909His) c.11502G>T (p.Gln3834His) c.9501G>T (p.Gln3167His) c.8730G>T (p.Gln2910His) c.6102G>T (p.Gln2034His) c.5151G>T (p.Gln1717His) | |
15 | g.28141462C>G | CA391380968 | HERC2 | c.11985G>C (p.Gln3995His) c.3696G>C (p.Gln1232His) c.11871G>C (p.Gln3957His) c.11970G>C (p.Gln3990His) c.11727G>C (p.Gln3909His) c.11502G>C (p.Gln3834His) c.9501G>C (p.Gln3167His) c.8730G>C (p.Gln2910His) c.6102G>C (p.Gln2034His) c.5151G>C (p.Gln1717His) | |
15 | g.28141462C>T | CA489234662 | HERC2 | c.11985G>A (p.Gln3995=) c.3696G>A (p.Gln1232=) c.11871G>A (p.Gln3957=) c.11970G>A (p.Gln3990=) c.11727G>A (p.Gln3909=) c.11502G>A (p.Gln3834=) c.9501G>A (p.Gln3167=) c.8730G>A (p.Gln2910=) c.6102G>A (p.Gln2034=) c.5151G>A (p.Gln1717=) | |
15 | g.28141463T>A | CA391380972 | HERC2 | c.11984A>T (p.Gln3995Leu) c.3695A>T (p.Gln1232Leu) c.11870A>T (p.Gln3957Leu) c.11969A>T (p.Gln3990Leu) c.11726A>T (p.Gln3909Leu) c.11501A>T (p.Gln3834Leu) c.9500A>T (p.Gln3167Leu) c.8729A>T (p.Gln2910Leu) c.6101A>T (p.Gln2034Leu) c.5150A>T (p.Gln1717Leu) | |
15 | g.28141463T>C | CA391380974 | HERC2 | c.11984A>G (p.Gln3995Arg) c.3695A>G (p.Gln1232Arg) c.11870A>G (p.Gln3957Arg) c.11969A>G (p.Gln3990Arg) c.11726A>G (p.Gln3909Arg) c.11501A>G (p.Gln3834Arg) c.9500A>G (p.Gln3167Arg) c.8729A>G (p.Gln2910Arg) c.6101A>G (p.Gln2034Arg) c.5150A>G (p.Gln1717Arg) | |
15 | g.28141463T>G | CA391380976 | HERC2 | c.11984A>C (p.Gln3995Pro) c.3695A>C (p.Gln1232Pro) c.11870A>C (p.Gln3957Pro) c.11969A>C (p.Gln3990Pro) c.11726A>C (p.Gln3909Pro) c.11501A>C (p.Gln3834Pro) c.9500A>C (p.Gln3167Pro) c.8729A>C (p.Gln2910Pro) c.6101A>C (p.Gln2034Pro) c.5150A>C (p.Gln1717Pro) | |
15 | g.28141464G>A | CA391380984 | HERC2 | c.11983C>T (p.Gln3995Ter) c.3694C>T (p.Gln1232Ter) c.11869C>T (p.Gln3957Ter) c.11968C>T (p.Gln3990Ter) c.11725C>T (p.Gln3909Ter) c.11500C>T (p.Gln3834Ter) c.9499C>T (p.Gln3167Ter) c.8728C>T (p.Gln2910Ter) c.6100C>T (p.Gln2034Ter) c.5149C>T (p.Gln1717Ter) | |
15 | g.28141464G>C | CA391380983 | HERC2 | c.11983C>G (p.Gln3995Glu) c.3694C>G (p.Gln1232Glu) c.11869C>G (p.Gln3957Glu) c.11968C>G (p.Gln3990Glu) c.11725C>G (p.Gln3909Glu) c.11500C>G (p.Gln3834Glu) c.9499C>G (p.Gln3167Glu) c.8728C>G (p.Gln2910Glu) c.6100C>G (p.Gln2034Glu) c.5149C>G (p.Gln1717Glu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141464G= | CA2166479835 | HERC2 | c.11983C= (p.Gln3995=) c.3694C= (p.Gln1232=) c.11869C= (p.Gln3957=) c.11968C= (p.Gln3990=) c.11725C= (p.Gln3909=) c.11500C= (p.Gln3834=) c.9499C= (p.Gln3167=) c.8728C= (p.Gln2910=) c.6100C= (p.Gln2034=) c.5149C= (p.Gln1717=) | |
15 | g.28141464G>T | CA391380980 | HERC2 | c.11983C>A (p.Gln3995Lys) c.3694C>A (p.Gln1232Lys) c.11869C>A (p.Gln3957Lys) c.11968C>A (p.Gln3990Lys) c.11725C>A (p.Gln3909Lys) c.11500C>A (p.Gln3834Lys) c.9499C>A (p.Gln3167Lys) c.8728C>A (p.Gln2910Lys) c.6100C>A (p.Gln2034Lys) c.5149C>A (p.Gln1717Lys) | gnomAD v4 |
15 | g.28141465T>A | CA391380986 | HERC2 | c.11982A>T (p.Glu3994Asp) c.3693A>T (p.Glu1231Asp) c.11868A>T (p.Glu3956Asp) c.11967A>T (p.Glu3989Asp) c.11724A>T (p.Glu3908Asp) c.11499A>T (p.Glu3833Asp) c.9498A>T (p.Glu3166Asp) c.8727A>T (p.Glu2909Asp) c.6099A>T (p.Glu2033Asp) c.5148A>T (p.Glu1716Asp) | |
15 | g.28141465T>C | CA489234665 | HERC2 | c.11982A>G (p.Glu3994=) c.3693A>G (p.Glu1231=) c.11868A>G (p.Glu3956=) c.11967A>G (p.Glu3989=) c.11724A>G (p.Glu3908=) c.11499A>G (p.Glu3833=) c.9498A>G (p.Glu3166=) c.8727A>G (p.Glu2909=) c.6099A>G (p.Glu2033=) c.5148A>G (p.Glu1716=) | gnomAD v4 |
15 | g.28141465T>G | CA391380987 | HERC2 | c.11982A>C (p.Glu3994Asp) c.3693A>C (p.Glu1231Asp) c.11868A>C (p.Glu3956Asp) c.11967A>C (p.Glu3989Asp) c.11724A>C (p.Glu3908Asp) c.11499A>C (p.Glu3833Asp) c.9498A>C (p.Glu3166Asp) c.8727A>C (p.Glu2909Asp) c.6099A>C (p.Glu2033Asp) c.5148A>C (p.Glu1716Asp) | |
15 | g.28141466T>A | CA391380991 | HERC2 | c.11981A>T (p.Glu3994Val) c.3692A>T (p.Glu1231Val) c.11867A>T (p.Glu3956Val) c.11966A>T (p.Glu3989Val) c.11723A>T (p.Glu3908Val) c.11498A>T (p.Glu3833Val) c.9497A>T (p.Glu3166Val) c.8726A>T (p.Glu2909Val) c.6098A>T (p.Glu2033Val) c.5147A>T (p.Glu1716Val) | |
15 | g.28141466T>C | CA391380993 | HERC2 | c.11981A>G (p.Glu3994Gly) c.3692A>G (p.Glu1231Gly) c.11867A>G (p.Glu3956Gly) c.11966A>G (p.Glu3989Gly) c.11723A>G (p.Glu3908Gly) c.11498A>G (p.Glu3833Gly) c.9497A>G (p.Glu3166Gly) c.8726A>G (p.Glu2909Gly) c.6098A>G (p.Glu2033Gly) c.5147A>G (p.Glu1716Gly) | |
15 | g.28141466T>G | CA391380995 | HERC2 | c.11981A>C (p.Glu3994Ala) c.3692A>C (p.Glu1231Ala) c.11867A>C (p.Glu3956Ala) c.11966A>C (p.Glu3989Ala) c.11723A>C (p.Glu3908Ala) c.11498A>C (p.Glu3833Ala) c.9497A>C (p.Glu3166Ala) c.8726A>C (p.Glu2909Ala) c.6098A>C (p.Glu2033Ala) c.5147A>C (p.Glu1716Ala) | ClinVar dbSNP |
15 | g.28141467C>A | CA391381001 | HERC2 | c.11980G>T (p.Glu3994Ter) c.3691G>T (p.Glu1231Ter) c.11866G>T (p.Glu3956Ter) c.11965G>T (p.Glu3989Ter) c.11722G>T (p.Glu3908Ter) c.11497G>T (p.Glu3833Ter) c.9496G>T (p.Glu3166Ter) c.8725G>T (p.Glu2909Ter) c.6097G>T (p.Glu2033Ter) c.5146G>T (p.Glu1716Ter) | |
15 | g.28141467C= | CA2166479837 | HERC2 | c.11980G= (p.Glu3994=) c.3691G= (p.Glu1231=) c.11866G= (p.Glu3956=) c.11965G= (p.Glu3989=) c.11722G= (p.Glu3908=) c.11497G= (p.Glu3833=) c.9496G= (p.Glu3166=) c.8725G= (p.Glu2909=) c.6097G= (p.Glu2033=) c.5146G= (p.Glu1716=) | |
15 | g.28141467C>G | CA391381004 | HERC2 | c.11980G>C (p.Glu3994Gln) c.3691G>C (p.Glu1231Gln) c.11866G>C (p.Glu3956Gln) c.11965G>C (p.Glu3989Gln) c.11722G>C (p.Glu3908Gln) c.11497G>C (p.Glu3833Gln) c.9496G>C (p.Glu3166Gln) c.8725G>C (p.Glu2909Gln) c.6097G>C (p.Glu2033Gln) c.5146G>C (p.Glu1716Gln) | |
15 | g.28141467C>T | CA267946052 | HERC2 | c.11980G>A (p.Glu3994Lys) c.3691G>A (p.Glu1231Lys) c.11866G>A (p.Glu3956Lys) c.11965G>A (p.Glu3989Lys) c.11722G>A (p.Glu3908Lys) c.11497G>A (p.Glu3833Lys) c.9496G>A (p.Glu3166Lys) c.8725G>A (p.Glu2909Lys) c.6097G>A (p.Glu2033Lys) c.5146G>A (p.Glu1716Lys) | dbSNP |
15 | g.28141468C>A | CA489234667 | HERC2 | c.11979G>T (p.Gly3993=) c.3690G>T (p.Gly1230=) c.11865G>T (p.Gly3955=) c.11964G>T (p.Gly3988=) c.11721G>T (p.Gly3907=) c.11496G>T (p.Gly3832=) c.9495G>T (p.Gly3165=) c.8724G>T (p.Gly2908=) c.6096G>T (p.Gly2032=) c.5145G>T (p.Gly1715=) | |
15 | g.28141468C>G | CA489234668 | HERC2 | c.11979G>C (p.Gly3993=) c.3690G>C (p.Gly1230=) c.11865G>C (p.Gly3955=) c.11964G>C (p.Gly3988=) c.11721G>C (p.Gly3907=) c.11496G>C (p.Gly3832=) c.9495G>C (p.Gly3165=) c.8724G>C (p.Gly2908=) c.6096G>C (p.Gly2032=) c.5145G>C (p.Gly1715=) | |
15 | g.28141468C>T | CA489234669 | HERC2 | c.11979G>A (p.Gly3993=) c.3690G>A (p.Gly1230=) c.11865G>A (p.Gly3955=) c.11964G>A (p.Gly3988=) c.11721G>A (p.Gly3907=) c.11496G>A (p.Gly3832=) c.9495G>A (p.Gly3165=) c.8724G>A (p.Gly2908=) c.6096G>A (p.Gly2032=) c.5145G>A (p.Gly1715=) | |
15 | g.28141469C>A | CA391381009 | HERC2 | c.11978G>T (p.Gly3993Val) c.3689G>T (p.Gly1230Val) c.11864G>T (p.Gly3955Val) c.11963G>T (p.Gly3988Val) c.11720G>T (p.Gly3907Val) c.11495G>T (p.Gly3832Val) c.9494G>T (p.Gly3165Val) c.8723G>T (p.Gly2908Val) c.6095G>T (p.Gly2032Val) c.5144G>T (p.Gly1715Val) | |
15 | g.28141469C= | CA2166479839 | HERC2 | c.11978G= (p.Gly3993=) c.3689G= (p.Gly1230=) c.11864G= (p.Gly3955=) c.11963G= (p.Gly3988=) c.11720G= (p.Gly3907=) c.11495G= (p.Gly3832=) c.9494G= (p.Gly3165=) c.8723G= (p.Gly2908=) c.6095G= (p.Gly2032=) c.5144G= (p.Gly1715=) | |
15 | g.28141469C>G | CA391381013 | HERC2 | c.11978G>C (p.Gly3993Ala) c.3689G>C (p.Gly1230Ala) c.11864G>C (p.Gly3955Ala) c.11963G>C (p.Gly3988Ala) c.11720G>C (p.Gly3907Ala) c.11495G>C (p.Gly3832Ala) c.9494G>C (p.Gly3165Ala) c.8723G>C (p.Gly2908Ala) c.6095G>C (p.Gly2032Ala) c.5144G>C (p.Gly1715Ala) | |
15 | g.28141469C>T | CA391381015 | HERC2 | c.11978G>A (p.Gly3993Glu) c.3689G>A (p.Gly1230Glu) c.11864G>A (p.Gly3955Glu) c.11963G>A (p.Gly3988Glu) c.11720G>A (p.Gly3907Glu) c.11495G>A (p.Gly3832Glu) c.9494G>A (p.Gly3165Glu) c.8723G>A (p.Gly2908Glu) c.6095G>A (p.Gly2032Glu) c.5144G>A (p.Gly1715Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141470C>A | CA391381022 | HERC2 | c.11977G>T (p.Gly3993Trp) c.3688G>T (p.Gly1230Trp) c.11863G>T (p.Gly3955Trp) c.11962G>T (p.Gly3988Trp) c.11719G>T (p.Gly3907Trp) c.11494G>T (p.Gly3832Trp) c.9493G>T (p.Gly3165Trp) c.8722G>T (p.Gly2908Trp) c.6094G>T (p.Gly2032Trp) c.5143G>T (p.Gly1715Trp) | |
15 | g.28141470C>G | CA391381024 | HERC2 | c.11977G>C (p.Gly3993Arg) c.3688G>C (p.Gly1230Arg) c.11863G>C (p.Gly3955Arg) c.11962G>C (p.Gly3988Arg) c.11719G>C (p.Gly3907Arg) c.11494G>C (p.Gly3832Arg) c.9493G>C (p.Gly3165Arg) c.8722G>C (p.Gly2908Arg) c.6094G>C (p.Gly2032Arg) c.5143G>C (p.Gly1715Arg) | |
15 | g.28141470C>T | CA391381019 | HERC2 | c.11977G>A (p.Gly3993Arg) c.3688G>A (p.Gly1230Arg) c.11863G>A (p.Gly3955Arg) c.11962G>A (p.Gly3988Arg) c.11719G>A (p.Gly3907Arg) c.11494G>A (p.Gly3832Arg) c.9493G>A (p.Gly3165Arg) c.8722G>A (p.Gly2908Arg) c.6094G>A (p.Gly2032Arg) c.5143G>A (p.Gly1715Arg) | |
15 | g.28141471T>A | CA489234670 | HERC2 | c.11976A>T (p.Gly3992=) c.3687A>T (p.Gly1229=) c.11862A>T (p.Gly3954=) c.11961A>T (p.Gly3987=) c.11718A>T (p.Gly3906=) c.11493A>T (p.Gly3831=) c.9492A>T (p.Gly3164=) c.8721A>T (p.Gly2907=) c.6093A>T (p.Gly2031=) c.5142A>T (p.Gly1714=) | |
15 | g.28141471T>C | CA489234671 | HERC2 | c.11976A>G (p.Gly3992=) c.3687A>G (p.Gly1229=) c.11862A>G (p.Gly3954=) c.11961A>G (p.Gly3987=) c.11718A>G (p.Gly3906=) c.11493A>G (p.Gly3831=) c.9492A>G (p.Gly3164=) c.8721A>G (p.Gly2907=) c.6093A>G (p.Gly2031=) c.5142A>G (p.Gly1714=) | gnomAD v4 |
15 | g.28141471T>G | CA489234672 | HERC2 | c.11976A>C (p.Gly3992=) c.3687A>C (p.Gly1229=) c.11862A>C (p.Gly3954=) c.11961A>C (p.Gly3987=) c.11718A>C (p.Gly3906=) c.11493A>C (p.Gly3831=) c.9492A>C (p.Gly3164=) c.8721A>C (p.Gly2907=) c.6093A>C (p.Gly2031=) c.5142A>C (p.Gly1714=) | |
15 | g.28141472C>A | CA391381027 | HERC2 | c.11975G>T (p.Gly3992Val) c.3686G>T (p.Gly1229Val) c.11861G>T (p.Gly3954Val) c.11960G>T (p.Gly3987Val) c.11717G>T (p.Gly3906Val) c.11492G>T (p.Gly3831Val) c.9491G>T (p.Gly3164Val) c.8720G>T (p.Gly2907Val) c.6092G>T (p.Gly2031Val) c.5141G>T (p.Gly1714Val) | |
15 | g.28141472C>G | CA391381029 | HERC2 | c.11975G>C (p.Gly3992Ala) c.3686G>C (p.Gly1229Ala) c.11861G>C (p.Gly3954Ala) c.11960G>C (p.Gly3987Ala) c.11717G>C (p.Gly3906Ala) c.11492G>C (p.Gly3831Ala) c.9491G>C (p.Gly3164Ala) c.8720G>C (p.Gly2907Ala) c.6092G>C (p.Gly2031Ala) c.5141G>C (p.Gly1714Ala) | |
15 | g.28141472C>T | CA391381032 | HERC2 | c.11975G>A (p.Gly3992Glu) c.3686G>A (p.Gly1229Glu) c.11861G>A (p.Gly3954Glu) c.11960G>A (p.Gly3987Glu) c.11717G>A (p.Gly3906Glu) c.11492G>A (p.Gly3831Glu) c.9491G>A (p.Gly3164Glu) c.8720G>A (p.Gly2907Glu) c.6092G>A (p.Gly2031Glu) c.5141G>A (p.Gly1714Glu) | |
15 | g.28141473C>A | CA391381035 | HERC2 | c.11974G>T (p.Gly3992Ter) c.3685G>T (p.Gly1229Ter) c.11860G>T (p.Gly3954Ter) c.11959G>T (p.Gly3987Ter) c.11716G>T (p.Gly3906Ter) c.11491G>T (p.Gly3831Ter) c.9490G>T (p.Gly3164Ter) c.8719G>T (p.Gly2907Ter) c.6091G>T (p.Gly2031Ter) c.5140G>T (p.Gly1714Ter) | |
15 | g.28141473C= | CA2166479841 | HERC2 | c.11974G= (p.Gly3992=) c.3685G= (p.Gly1229=) c.11860G= (p.Gly3954=) c.11959G= (p.Gly3987=) c.11716G= (p.Gly3906=) c.11491G= (p.Gly3831=) c.9490G= (p.Gly3164=) c.8719G= (p.Gly2907=) c.6091G= (p.Gly2031=) c.5140G= (p.Gly1714=) | |
15 | g.28141473C>G | CA391381036 | HERC2 | c.11974G>C (p.Gly3992Arg) c.3685G>C (p.Gly1229Arg) c.11860G>C (p.Gly3954Arg) c.11959G>C (p.Gly3987Arg) c.11716G>C (p.Gly3906Arg) c.11491G>C (p.Gly3831Arg) c.9490G>C (p.Gly3164Arg) c.8719G>C (p.Gly2907Arg) c.6091G>C (p.Gly2031Arg) c.5140G>C (p.Gly1714Arg) | |
15 | g.28141473C>T | CA391381039 | HERC2 | c.11974G>A (p.Gly3992Arg) c.3685G>A (p.Gly1229Arg) c.11860G>A (p.Gly3954Arg) c.11959G>A (p.Gly3987Arg) c.11716G>A (p.Gly3906Arg) c.11491G>A (p.Gly3831Arg) c.9490G>A (p.Gly3164Arg) c.8719G>A (p.Gly2907Arg) c.6091G>A (p.Gly2031Arg) c.5140G>A (p.Gly1714Arg) | dbSNP gnomAD v4 |
15 | g.28141474G>A | CA7440423 | HERC2 | c.11973C>T (p.Ile3991=) c.3684C>T (p.Ile1228=) c.11859C>T (p.Ile3953=) c.11958C>T (p.Ile3986=) c.11715C>T (p.Ile3905=) c.11490C>T (p.Ile3830=) c.9489C>T (p.Ile3163=) c.8718C>T (p.Ile2906=) c.6090C>T (p.Ile2030=) c.5139C>T (p.Ile1713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141474G>C | CA391381045 | HERC2 | c.11973C>G (p.Ile3991Met) c.3684C>G (p.Ile1228Met) c.11859C>G (p.Ile3953Met) c.11958C>G (p.Ile3986Met) c.11715C>G (p.Ile3905Met) c.11490C>G (p.Ile3830Met) c.9489C>G (p.Ile3163Met) c.8718C>G (p.Ile2906Met) c.6090C>G (p.Ile2030Met) c.5139C>G (p.Ile1713Met) | |
15 | g.28141474G= | CA2166479843 | HERC2 | c.11973C= (p.Ile3991=) c.3684C= (p.Ile1228=) c.11859C= (p.Ile3953=) c.11958C= (p.Ile3986=) c.11715C= (p.Ile3905=) c.11490C= (p.Ile3830=) c.9489C= (p.Ile3163=) c.8718C= (p.Ile2906=) c.6090C= (p.Ile2030=) c.5139C= (p.Ile1713=) | |
15 | g.28141474G>T | CA489234674 | HERC2 | c.11973C>A (p.Ile3991=) c.3684C>A (p.Ile1228=) c.11859C>A (p.Ile3953=) c.11958C>A (p.Ile3986=) c.11715C>A (p.Ile3905=) c.11490C>A (p.Ile3830=) c.9489C>A (p.Ile3163=) c.8718C>A (p.Ile2906=) c.6090C>A (p.Ile2030=) c.5139C>A (p.Ile1713=) | COSMIC COSMIC |
15 | g.28141475A>C | CA391381047 | HERC2 | c.11972T>G (p.Ile3991Ser) c.3683T>G (p.Ile1228Ser) c.11858T>G (p.Ile3953Ser) c.11957T>G (p.Ile3986Ser) c.11714T>G (p.Ile3905Ser) c.11489T>G (p.Ile3830Ser) c.9488T>G (p.Ile3163Ser) c.8717T>G (p.Ile2906Ser) c.6089T>G (p.Ile2030Ser) c.5138T>G (p.Ile1713Ser) | |
15 | g.28141475A>G | CA391381052 | HERC2 | c.11972T>C (p.Ile3991Thr) c.3683T>C (p.Ile1228Thr) c.11858T>C (p.Ile3953Thr) c.11957T>C (p.Ile3986Thr) c.11714T>C (p.Ile3905Thr) c.11489T>C (p.Ile3830Thr) c.9488T>C (p.Ile3163Thr) c.8717T>C (p.Ile2906Thr) c.6089T>C (p.Ile2030Thr) c.5138T>C (p.Ile1713Thr) | |
15 | g.28141475A>T | CA391381053 | HERC2 | c.11972T>A (p.Ile3991Asn) c.3683T>A (p.Ile1228Asn) c.11858T>A (p.Ile3953Asn) c.11957T>A (p.Ile3986Asn) c.11714T>A (p.Ile3905Asn) c.11489T>A (p.Ile3830Asn) c.9488T>A (p.Ile3163Asn) c.8717T>A (p.Ile2906Asn) c.6089T>A (p.Ile2030Asn) c.5138T>A (p.Ile1713Asn) | |
15 | g.28141476T>A | CA391381059 | HERC2 | c.11971A>T (p.Ile3991Phe) c.3682A>T (p.Ile1228Phe) c.11857A>T (p.Ile3953Phe) c.11956A>T (p.Ile3986Phe) c.11713A>T (p.Ile3905Phe) c.11488A>T (p.Ile3830Phe) c.9487A>T (p.Ile3163Phe) c.8716A>T (p.Ile2906Phe) c.6088A>T (p.Ile2030Phe) c.5137A>T (p.Ile1713Phe) | |
15 | g.28141476T>C | CA391381057 | HERC2 | c.11971A>G (p.Ile3991Val) c.3682A>G (p.Ile1228Val) c.11857A>G (p.Ile3953Val) c.11956A>G (p.Ile3986Val) c.11713A>G (p.Ile3905Val) c.11488A>G (p.Ile3830Val) c.9487A>G (p.Ile3163Val) c.8716A>G (p.Ile2906Val) c.6088A>G (p.Ile2030Val) c.5137A>G (p.Ile1713Val) | |
15 | g.28141476T>G | CA391381055 | HERC2 | c.11971A>C (p.Ile3991Leu) c.3682A>C (p.Ile1228Leu) c.11857A>C (p.Ile3953Leu) c.11956A>C (p.Ile3986Leu) c.11713A>C (p.Ile3905Leu) c.11488A>C (p.Ile3830Leu) c.9487A>C (p.Ile3163Leu) c.8716A>C (p.Ile2906Leu) c.6088A>C (p.Ile2030Leu) c.5137A>C (p.Ile1713Leu) | |
15 | g.28141477T>A | CA391381062 | HERC2 | c.11970A>T (p.Leu3990Phe) c.3681A>T (p.Leu1227Phe) c.11856A>T (p.Leu3952Phe) c.11955A>T (p.Leu3985Phe) c.11712A>T (p.Leu3904Phe) c.11487A>T (p.Leu3829Phe) c.9486A>T (p.Leu3162Phe) c.8715A>T (p.Leu2905Phe) c.6087A>T (p.Leu2029Phe) c.5136A>T (p.Leu1712Phe) | |
15 | g.28141477T>C | CA489234678 | HERC2 | c.11970A>G (p.Leu3990=) c.3681A>G (p.Leu1227=) c.11856A>G (p.Leu3952=) c.11955A>G (p.Leu3985=) c.11712A>G (p.Leu3904=) c.11487A>G (p.Leu3829=) c.9486A>G (p.Leu3162=) c.8715A>G (p.Leu2905=) c.6087A>G (p.Leu2029=) c.5136A>G (p.Leu1712=) | |
15 | g.28141477T>G | CA391381063 | HERC2 | c.11970A>C (p.Leu3990Phe) c.3681A>C (p.Leu1227Phe) c.11856A>C (p.Leu3952Phe) c.11955A>C (p.Leu3985Phe) c.11712A>C (p.Leu3904Phe) c.11487A>C (p.Leu3829Phe) c.9486A>C (p.Leu3162Phe) c.8715A>C (p.Leu2905Phe) c.6087A>C (p.Leu2029Phe) c.5136A>C (p.Leu1712Phe) | |
15 | g.28141478A>C | CA391381066 | HERC2 | c.11969T>G (p.Leu3990Ter) c.3680T>G (p.Leu1227Ter) c.11855T>G (p.Leu3952Ter) c.11954T>G (p.Leu3985Ter) c.11711T>G (p.Leu3904Ter) c.11486T>G (p.Leu3829Ter) c.9485T>G (p.Leu3162Ter) c.8714T>G (p.Leu2905Ter) c.6086T>G (p.Leu2029Ter) c.5135T>G (p.Leu1712Ter) | |
15 | g.28141478A>G | CA391381068 | HERC2 | c.11969T>C (p.Leu3990Ser) c.3680T>C (p.Leu1227Ser) c.11855T>C (p.Leu3952Ser) c.11954T>C (p.Leu3985Ser) c.11711T>C (p.Leu3904Ser) c.11486T>C (p.Leu3829Ser) c.9485T>C (p.Leu3162Ser) c.8714T>C (p.Leu2905Ser) c.6086T>C (p.Leu2029Ser) c.5135T>C (p.Leu1712Ser) | |
15 | g.28141478A>T | CA391381070 | HERC2 | c.11969T>A (p.Leu3990Ter) c.3680T>A (p.Leu1227Ter) c.11855T>A (p.Leu3952Ter) c.11954T>A (p.Leu3985Ter) c.11711T>A (p.Leu3904Ter) c.11486T>A (p.Leu3829Ter) c.9485T>A (p.Leu3162Ter) c.8714T>A (p.Leu2905Ter) c.6086T>A (p.Leu2029Ter) c.5135T>A (p.Leu1712Ter) | |
15 | g.28141479A>C | CA391381073 | HERC2 | c.11968T>G (p.Leu3990Val) c.3679T>G (p.Leu1227Val) c.11854T>G (p.Leu3952Val) c.11953T>G (p.Leu3985Val) c.11710T>G (p.Leu3904Val) c.11485T>G (p.Leu3829Val) c.9484T>G (p.Leu3162Val) c.8713T>G (p.Leu2905Val) c.6085T>G (p.Leu2029Val) c.5134T>G (p.Leu1712Val) | |
15 | g.28141479A>G | CA489234680 | HERC2 | c.11968T>C (p.Leu3990=) c.3679T>C (p.Leu1227=) c.11854T>C (p.Leu3952=) c.11953T>C (p.Leu3985=) c.11710T>C (p.Leu3904=) c.11485T>C (p.Leu3829=) c.9484T>C (p.Leu3162=) c.8713T>C (p.Leu2905=) c.6085T>C (p.Leu2029=) c.5134T>C (p.Leu1712=) | |
15 | g.28141479A>T | CA391381076 | HERC2 | c.11968T>A (p.Leu3990Ile) c.3679T>A (p.Leu1227Ile) c.11854T>A (p.Leu3952Ile) c.11953T>A (p.Leu3985Ile) c.11710T>A (p.Leu3904Ile) c.11485T>A (p.Leu3829Ile) c.9484T>A (p.Leu3162Ile) c.8713T>A (p.Leu2905Ile) c.6085T>A (p.Leu2029Ile) c.5134T>A (p.Leu1712Ile) | |
15 | g.28141480C>A | CA391381079 | HERC2 | c.11967G>T (p.Gln3989His) c.3678G>T (p.Gln1226His) c.11853G>T (p.Gln3951His) c.11952G>T (p.Gln3984His) c.11709G>T (p.Gln3903His) c.11484G>T (p.Gln3828His) c.9483G>T (p.Gln3161His) c.8712G>T (p.Gln2904His) c.6084G>T (p.Gln2028His) c.5133G>T (p.Gln1711His) | |
15 | g.28141480C= | CA2166479845 | HERC2 | c.11967G= (p.Gln3989=) c.3678G= (p.Gln1226=) c.11853G= (p.Gln3951=) c.11952G= (p.Gln3984=) c.11709G= (p.Gln3903=) c.11484G= (p.Gln3828=) c.9483G= (p.Gln3161=) c.8712G= (p.Gln2904=) c.6084G= (p.Gln2028=) c.5133G= (p.Gln1711=) | |
15 | g.28141480C>G | CA391381081 | HERC2 | c.11967G>C (p.Gln3989His) c.3678G>C (p.Gln1226His) c.11853G>C (p.Gln3951His) c.11952G>C (p.Gln3984His) c.11709G>C (p.Gln3903His) c.11484G>C (p.Gln3828His) c.9483G>C (p.Gln3161His) c.8712G>C (p.Gln2904His) c.6084G>C (p.Gln2028His) c.5133G>C (p.Gln1711His) | |
15 | g.28141480C>T | CA7440424 | HERC2 | c.11967G>A (p.Gln3989=) c.3678G>A (p.Gln1226=) c.11853G>A (p.Gln3951=) c.11952G>A (p.Gln3984=) c.11709G>A (p.Gln3903=) c.11484G>A (p.Gln3828=) c.9483G>A (p.Gln3161=) c.8712G>A (p.Gln2904=) c.6084G>A (p.Gln2028=) c.5133G>A (p.Gln1711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141481T>A | CA391381087 | HERC2 | c.11966A>T (p.Gln3989Leu) c.3677A>T (p.Gln1226Leu) c.11852A>T (p.Gln3951Leu) c.11951A>T (p.Gln3984Leu) c.11708A>T (p.Gln3903Leu) c.11483A>T (p.Gln3828Leu) c.9482A>T (p.Gln3161Leu) c.8711A>T (p.Gln2904Leu) c.6083A>T (p.Gln2028Leu) c.5132A>T (p.Gln1711Leu) | |
15 | g.28141481T>C | CA391381089 | HERC2 | c.11966A>G (p.Gln3989Arg) c.3677A>G (p.Gln1226Arg) c.11852A>G (p.Gln3951Arg) c.11951A>G (p.Gln3984Arg) c.11708A>G (p.Gln3903Arg) c.11483A>G (p.Gln3828Arg) c.9482A>G (p.Gln3161Arg) c.8711A>G (p.Gln2904Arg) c.6083A>G (p.Gln2028Arg) c.5132A>G (p.Gln1711Arg) | gnomAD v4 |
15 | g.28141481T>G | CA391381090 | HERC2 | c.11966A>C (p.Gln3989Pro) c.3677A>C (p.Gln1226Pro) c.11852A>C (p.Gln3951Pro) c.11951A>C (p.Gln3984Pro) c.11708A>C (p.Gln3903Pro) c.11483A>C (p.Gln3828Pro) c.9482A>C (p.Gln3161Pro) c.8711A>C (p.Gln2904Pro) c.6083A>C (p.Gln2028Pro) c.5132A>C (p.Gln1711Pro) | |
15 | g.28141482G>A | CA391381094 | HERC2 | c.11965C>T (p.Gln3989Ter) c.3676C>T (p.Gln1226Ter) c.11851C>T (p.Gln3951Ter) c.11950C>T (p.Gln3984Ter) c.11707C>T (p.Gln3903Ter) c.11482C>T (p.Gln3828Ter) c.9481C>T (p.Gln3161Ter) c.8710C>T (p.Gln2904Ter) c.6082C>T (p.Gln2028Ter) c.5131C>T (p.Gln1711Ter) | |
15 | g.28141482G>C | CA391381100 | HERC2 | c.11965C>G (p.Gln3989Glu) c.3676C>G (p.Gln1226Glu) c.11851C>G (p.Gln3951Glu) c.11950C>G (p.Gln3984Glu) c.11707C>G (p.Gln3903Glu) c.11482C>G (p.Gln3828Glu) c.9481C>G (p.Gln3161Glu) c.8710C>G (p.Gln2904Glu) c.6082C>G (p.Gln2028Glu) c.5131C>G (p.Gln1711Glu) | |
15 | g.28141482G>T | CA391381093 | HERC2 | c.11965C>A (p.Gln3989Lys) c.3676C>A (p.Gln1226Lys) c.11851C>A (p.Gln3951Lys) c.11950C>A (p.Gln3984Lys) c.11707C>A (p.Gln3903Lys) c.11482C>A (p.Gln3828Lys) c.9481C>A (p.Gln3161Lys) c.8710C>A (p.Gln2904Lys) c.6082C>A (p.Gln2028Lys) c.5131C>A (p.Gln1711Lys) | |
15 | g.28141483C>A | CA489234684 | HERC2 | c.11964G>T (p.Val3988=) c.3675G>T (p.Val1225=) c.11850G>T (p.Val3950=) c.11949G>T (p.Val3983=) c.11706G>T (p.Val3902=) c.11481G>T (p.Val3827=) c.9480G>T (p.Val3160=) c.8709G>T (p.Val2903=) c.6081G>T (p.Val2027=) c.5130G>T (p.Val1710=) | |
15 | g.28141483C>G | CA489234685 | HERC2 | c.11964G>C (p.Val3988=) c.3675G>C (p.Val1225=) c.11850G>C (p.Val3950=) c.11949G>C (p.Val3983=) c.11706G>C (p.Val3902=) c.11481G>C (p.Val3827=) c.9480G>C (p.Val3160=) c.8709G>C (p.Val2903=) c.6081G>C (p.Val2027=) c.5130G>C (p.Val1710=) | |
15 | g.28141483C>T | CA489234683 | HERC2 | c.11964G>A (p.Val3988=) c.3675G>A (p.Val1225=) c.11850G>A (p.Val3950=) c.11949G>A (p.Val3983=) c.11706G>A (p.Val3902=) c.11481G>A (p.Val3827=) c.9480G>A (p.Val3160=) c.8709G>A (p.Val2903=) c.6081G>A (p.Val2027=) c.5130G>A (p.Val1710=) | |
15 | g.28141484A= | CA2166479846 | HERC2 | c.11963T= (p.Val3988=) c.3674T= (p.Val1225=) c.11849T= (p.Val3950=) c.11948T= (p.Val3983=) c.11705T= (p.Val3902=) c.11480T= (p.Val3827=) c.9479T= (p.Val3160=) c.8708T= (p.Val2903=) c.6080T= (p.Val2027=) c.5129T= (p.Val1710=) | |
15 | g.28141484A>C | CA391381109 | HERC2 | c.11963T>G (p.Val3988Gly) c.3674T>G (p.Val1225Gly) c.11849T>G (p.Val3950Gly) c.11948T>G (p.Val3983Gly) c.11705T>G (p.Val3902Gly) c.11480T>G (p.Val3827Gly) c.9479T>G (p.Val3160Gly) c.8708T>G (p.Val2903Gly) c.6080T>G (p.Val2027Gly) c.5129T>G (p.Val1710Gly) | |
15 | g.28141484A>G | CA7440425 | HERC2 | c.11963T>C (p.Val3988Ala) c.3674T>C (p.Val1225Ala) c.11849T>C (p.Val3950Ala) c.11948T>C (p.Val3983Ala) c.11705T>C (p.Val3902Ala) c.11480T>C (p.Val3827Ala) c.9479T>C (p.Val3160Ala) c.8708T>C (p.Val2903Ala) c.6080T>C (p.Val2027Ala) c.5129T>C (p.Val1710Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141484A>T | CA391381106 | HERC2 | c.11963T>A (p.Val3988Glu) c.3674T>A (p.Val1225Glu) c.11849T>A (p.Val3950Glu) c.11948T>A (p.Val3983Glu) c.11705T>A (p.Val3902Glu) c.11480T>A (p.Val3827Glu) c.9479T>A (p.Val3160Glu) c.8708T>A (p.Val2903Glu) c.6080T>A (p.Val2027Glu) c.5129T>A (p.Val1710Glu) | |
15 | g.28141485C>A | CA391381112 | HERC2 | c.11962G>T (p.Val3988Leu) c.3673G>T (p.Val1225Leu) c.11848G>T (p.Val3950Leu) c.11947G>T (p.Val3983Leu) c.11704G>T (p.Val3902Leu) c.11479G>T (p.Val3827Leu) c.9478G>T (p.Val3160Leu) c.8707G>T (p.Val2903Leu) c.6079G>T (p.Val2027Leu) c.5128G>T (p.Val1710Leu) | |
15 | g.28141485C= | CA2166479849 | HERC2 | c.11962G= (p.Val3988=) c.3673G= (p.Val1225=) c.11848G= (p.Val3950=) c.11947G= (p.Val3983=) c.11704G= (p.Val3902=) c.11479G= (p.Val3827=) c.9478G= (p.Val3160=) c.8707G= (p.Val2903=) c.6079G= (p.Val2027=) c.5128G= (p.Val1710=) | |
15 | g.28141485C>G | CA391381114 | HERC2 | c.11962G>C (p.Val3988Leu) c.3673G>C (p.Val1225Leu) c.11848G>C (p.Val3950Leu) c.11947G>C (p.Val3983Leu) c.11704G>C (p.Val3902Leu) c.11479G>C (p.Val3827Leu) c.9478G>C (p.Val3160Leu) c.8707G>C (p.Val2903Leu) c.6079G>C (p.Val2027Leu) c.5128G>C (p.Val1710Leu) | gnomAD v4 |
15 | g.28141485C>T | CA7440426 | HERC2 | c.11962G>A (p.Val3988Met) c.3673G>A (p.Val1225Met) c.11848G>A (p.Val3950Met) c.11947G>A (p.Val3983Met) c.11704G>A (p.Val3902Met) c.11479G>A (p.Val3827Met) c.9478G>A (p.Val3160Met) c.8707G>A (p.Val2903Met) c.6079G>A (p.Val2027Met) c.5128G>A (p.Val1710Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141486G>A | CA7440427 | HERC2 | c.11961C>T (p.Pro3987=) c.3672C>T (p.Pro1224=) c.11847C>T (p.Pro3949=) c.11946C>T (p.Pro3982=) c.11703C>T (p.Pro3901=) c.11478C>T (p.Pro3826=) c.9477C>T (p.Pro3159=) c.8706C>T (p.Pro2902=) c.6078C>T (p.Pro2026=) c.5127C>T (p.Pro1709=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141486G>C | CA489234689 | HERC2 | c.11961C>G (p.Pro3987=) c.3672C>G (p.Pro1224=) c.11847C>G (p.Pro3949=) c.11946C>G (p.Pro3982=) c.11703C>G (p.Pro3901=) c.11478C>G (p.Pro3826=) c.9477C>G (p.Pro3159=) c.8706C>G (p.Pro2902=) c.6078C>G (p.Pro2026=) c.5127C>G (p.Pro1709=) | |
15 | g.28141486G= | CA2166479850 | HERC2 | c.11961C= (p.Pro3987=) c.3672C= (p.Pro1224=) c.11847C= (p.Pro3949=) c.11946C= (p.Pro3982=) c.11703C= (p.Pro3901=) c.11478C= (p.Pro3826=) c.9477C= (p.Pro3159=) c.8706C= (p.Pro2902=) c.6078C= (p.Pro2026=) c.5127C= (p.Pro1709=) | |
15 | g.28141486G>T | CA489234690 | HERC2 | c.11961C>A (p.Pro3987=) c.3672C>A (p.Pro1224=) c.11847C>A (p.Pro3949=) c.11946C>A (p.Pro3982=) c.11703C>A (p.Pro3901=) c.11478C>A (p.Pro3826=) c.9477C>A (p.Pro3159=) c.8706C>A (p.Pro2902=) c.6078C>A (p.Pro2026=) c.5127C>A (p.Pro1709=) | |
15 | g.28141487G>A | CA391381120 | HERC2 | c.11960C>T (p.Pro3987Leu) c.3671C>T (p.Pro1224Leu) c.11846C>T (p.Pro3949Leu) c.11945C>T (p.Pro3982Leu) c.11702C>T (p.Pro3901Leu) c.11477C>T (p.Pro3826Leu) c.9476C>T (p.Pro3159Leu) c.8705C>T (p.Pro2902Leu) c.6077C>T (p.Pro2026Leu) c.5126C>T (p.Pro1709Leu) | |
15 | g.28141487G>C | CA391381122 | HERC2 | c.11960C>G (p.Pro3987Arg) c.3671C>G (p.Pro1224Arg) c.11846C>G (p.Pro3949Arg) c.11945C>G (p.Pro3982Arg) c.11702C>G (p.Pro3901Arg) c.11477C>G (p.Pro3826Arg) c.9476C>G (p.Pro3159Arg) c.8705C>G (p.Pro2902Arg) c.6077C>G (p.Pro2026Arg) c.5126C>G (p.Pro1709Arg) | |
15 | g.28141487G>T | CA391381125 | HERC2 | c.11960C>A (p.Pro3987His) c.3671C>A (p.Pro1224His) c.11846C>A (p.Pro3949His) c.11945C>A (p.Pro3982His) c.11702C>A (p.Pro3901His) c.11477C>A (p.Pro3826His) c.9476C>A (p.Pro3159His) c.8705C>A (p.Pro2902His) c.6077C>A (p.Pro2026His) c.5126C>A (p.Pro1709His) | |
15 | g.28141488G>A | CA391381126 | HERC2 | c.11959C>T (p.Pro3987Ser) c.3670C>T (p.Pro1224Ser) c.11845C>T (p.Pro3949Ser) c.11944C>T (p.Pro3982Ser) c.11701C>T (p.Pro3901Ser) c.11476C>T (p.Pro3826Ser) c.9475C>T (p.Pro3159Ser) c.8704C>T (p.Pro2902Ser) c.6076C>T (p.Pro2026Ser) c.5125C>T (p.Pro1709Ser) | |
15 | g.28141488G>C | CA391381129 | HERC2 | c.11959C>G (p.Pro3987Ala) c.3670C>G (p.Pro1224Ala) c.11845C>G (p.Pro3949Ala) c.11944C>G (p.Pro3982Ala) c.11701C>G (p.Pro3901Ala) c.11476C>G (p.Pro3826Ala) c.9475C>G (p.Pro3159Ala) c.8704C>G (p.Pro2902Ala) c.6076C>G (p.Pro2026Ala) c.5125C>G (p.Pro1709Ala) | |
15 | g.28141488G= | CA2166479852 | HERC2 | c.11959C= (p.Pro3987=) c.3670C= (p.Pro1224=) c.11845C= (p.Pro3949=) c.11944C= (p.Pro3982=) c.11701C= (p.Pro3901=) c.11476C= (p.Pro3826=) c.9475C= (p.Pro3159=) c.8704C= (p.Pro2902=) c.6076C= (p.Pro2026=) c.5125C= (p.Pro1709=) | |
15 | g.28141488G>T | CA391381132 | HERC2 | c.11959C>A (p.Pro3987Thr) c.3670C>A (p.Pro1224Thr) c.11845C>A (p.Pro3949Thr) c.11944C>A (p.Pro3982Thr) c.11701C>A (p.Pro3901Thr) c.11476C>A (p.Pro3826Thr) c.9475C>A (p.Pro3159Thr) c.8704C>A (p.Pro2902Thr) c.6076C>A (p.Pro2026Thr) c.5125C>A (p.Pro1709Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141489T>A | CA391381137 | HERC2 | c.11958A>T (p.Arg3986Ser) c.3669A>T (p.Arg1223Ser) c.11844A>T (p.Arg3948Ser) c.11943A>T (p.Arg3981Ser) c.11700A>T (p.Arg3900Ser) c.11475A>T (p.Arg3825Ser) c.9474A>T (p.Arg3158Ser) c.8703A>T (p.Arg2901Ser) c.6075A>T (p.Arg2025Ser) c.5124A>T (p.Arg1708Ser) | |
15 | g.28141489T>C | CA489234691 | HERC2 | c.11958A>G (p.Arg3986=) c.3669A>G (p.Arg1223=) c.11844A>G (p.Arg3948=) c.11943A>G (p.Arg3981=) c.11700A>G (p.Arg3900=) c.11475A>G (p.Arg3825=) c.9474A>G (p.Arg3158=) c.8703A>G (p.Arg2901=) c.6075A>G (p.Arg2025=) c.5124A>G (p.Arg1708=) | gnomAD v4 |
15 | g.28141489T>G | CA391381134 | HERC2 | c.11958A>C (p.Arg3986Ser) c.3669A>C (p.Arg1223Ser) c.11844A>C (p.Arg3948Ser) c.11943A>C (p.Arg3981Ser) c.11700A>C (p.Arg3900Ser) c.11475A>C (p.Arg3825Ser) c.9474A>C (p.Arg3158Ser) c.8703A>C (p.Arg2901Ser) c.6075A>C (p.Arg2025Ser) c.5124A>C (p.Arg1708Ser) | |
15 | g.28141490C>A | CA391381140 | HERC2 | c.11957G>T (p.Arg3986Ile) c.3668G>T (p.Arg1223Ile) c.11843G>T (p.Arg3948Ile) c.11942G>T (p.Arg3981Ile) c.11699G>T (p.Arg3900Ile) c.11474G>T (p.Arg3825Ile) c.9473G>T (p.Arg3158Ile) c.8702G>T (p.Arg2901Ile) c.6074G>T (p.Arg2025Ile) c.5123G>T (p.Arg1708Ile) | |
15 | g.28141490C>G | CA391381143 | HERC2 | c.11957G>C (p.Arg3986Thr) c.3668G>C (p.Arg1223Thr) c.11843G>C (p.Arg3948Thr) c.11942G>C (p.Arg3981Thr) c.11699G>C (p.Arg3900Thr) c.11474G>C (p.Arg3825Thr) c.9473G>C (p.Arg3158Thr) c.8702G>C (p.Arg2901Thr) c.6074G>C (p.Arg2025Thr) c.5123G>C (p.Arg1708Thr) | |
15 | g.28141490C>T | CA391381145 | HERC2 | c.11957G>A (p.Arg3986Lys) c.3668G>A (p.Arg1223Lys) c.11843G>A (p.Arg3948Lys) c.11942G>A (p.Arg3981Lys) c.11699G>A (p.Arg3900Lys) c.11474G>A (p.Arg3825Lys) c.9473G>A (p.Arg3158Lys) c.8702G>A (p.Arg2901Lys) c.6074G>A (p.Arg2025Lys) c.5123G>A (p.Arg1708Lys) | |
15 | g.28141491T>A | CA391381148 | HERC2 | c.11956A>T (p.Arg3986Ter) c.3667A>T (p.Arg1223Ter) c.11842A>T (p.Arg3948Ter) c.11941A>T (p.Arg3981Ter) c.11698A>T (p.Arg3900Ter) c.11473A>T (p.Arg3825Ter) c.9472A>T (p.Arg3158Ter) c.8701A>T (p.Arg2901Ter) c.6073A>T (p.Arg2025Ter) c.5122A>T (p.Arg1708Ter) | |
15 | g.28141491T>C | CA391381150 | HERC2 | c.11956A>G (p.Arg3986Gly) c.3667A>G (p.Arg1223Gly) c.11842A>G (p.Arg3948Gly) c.11941A>G (p.Arg3981Gly) c.11698A>G (p.Arg3900Gly) c.11473A>G (p.Arg3825Gly) c.9472A>G (p.Arg3158Gly) c.8701A>G (p.Arg2901Gly) c.6073A>G (p.Arg2025Gly) c.5122A>G (p.Arg1708Gly) | |
15 | g.28141491T>G | CA489234693 | HERC2 | c.11956A>C (p.Arg3986=) c.3667A>C (p.Arg1223=) c.11842A>C (p.Arg3948=) c.11941A>C (p.Arg3981=) c.11698A>C (p.Arg3900=) c.11473A>C (p.Arg3825=) c.9472A>C (p.Arg3158=) c.8701A>C (p.Arg2901=) c.6073A>C (p.Arg2025=) c.5122A>C (p.Arg1708=) | |
15 | g.28141492G>A | CA489234694 | HERC2 | c.11955C>T (p.Leu3985=) c.3666C>T (p.Leu1222=) c.11841C>T (p.Leu3947=) c.11940C>T (p.Leu3980=) c.11697C>T (p.Leu3899=) c.11472C>T (p.Leu3824=) c.9471C>T (p.Leu3157=) c.8700C>T (p.Leu2900=) c.6072C>T (p.Leu2024=) c.5121C>T (p.Leu1707=) | |
15 | g.28141492G>C | CA267946076 | HERC2 | c.11955C>G (p.Leu3985=) c.3666C>G (p.Leu1222=) c.11841C>G (p.Leu3947=) c.11940C>G (p.Leu3980=) c.11697C>G (p.Leu3899=) c.11472C>G (p.Leu3824=) c.9471C>G (p.Leu3157=) c.8700C>G (p.Leu2900=) c.6072C>G (p.Leu2024=) c.5121C>G (p.Leu1707=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141492G= | CA2166479854 | HERC2 | c.11955C= (p.Leu3985=) c.3666C= (p.Leu1222=) c.11841C= (p.Leu3947=) c.11940C= (p.Leu3980=) c.11697C= (p.Leu3899=) c.11472C= (p.Leu3824=) c.9471C= (p.Leu3157=) c.8700C= (p.Leu2900=) c.6072C= (p.Leu2024=) c.5121C= (p.Leu1707=) | |
15 | g.28141492G>T | CA489234697 | HERC2 | c.11955C>A (p.Leu3985=) c.3666C>A (p.Leu1222=) c.11841C>A (p.Leu3947=) c.11940C>A (p.Leu3980=) c.11697C>A (p.Leu3899=) c.11472C>A (p.Leu3824=) c.9471C>A (p.Leu3157=) c.8700C>A (p.Leu2900=) c.6072C>A (p.Leu2024=) c.5121C>A (p.Leu1707=) | |
15 | g.28141493A>C | CA391381156 | HERC2 | c.11954T>G (p.Leu3985Arg) c.3665T>G (p.Leu1222Arg) c.11840T>G (p.Leu3947Arg) c.11939T>G (p.Leu3980Arg) c.11696T>G (p.Leu3899Arg) c.11471T>G (p.Leu3824Arg) c.9470T>G (p.Leu3157Arg) c.8699T>G (p.Leu2900Arg) c.6071T>G (p.Leu2024Arg) c.5120T>G (p.Leu1707Arg) | |
15 | g.28141493A>G | CA391381158 | HERC2 | c.11954T>C (p.Leu3985Pro) c.3665T>C (p.Leu1222Pro) c.11840T>C (p.Leu3947Pro) c.11939T>C (p.Leu3980Pro) c.11696T>C (p.Leu3899Pro) c.11471T>C (p.Leu3824Pro) c.9470T>C (p.Leu3157Pro) c.8699T>C (p.Leu2900Pro) c.6071T>C (p.Leu2024Pro) c.5120T>C (p.Leu1707Pro) | gnomAD v4 |
15 | g.28141493A>T | CA391381159 | HERC2 | c.11954T>A (p.Leu3985His) c.3665T>A (p.Leu1222His) c.11840T>A (p.Leu3947His) c.11939T>A (p.Leu3980His) c.11696T>A (p.Leu3899His) c.11471T>A (p.Leu3824His) c.9470T>A (p.Leu3157His) c.8699T>A (p.Leu2900His) c.6071T>A (p.Leu2024His) c.5120T>A (p.Leu1707His) | |
15 | g.28141494G>A | CA391381161 | HERC2 | c.11953C>T (p.Leu3985Phe) c.3664C>T (p.Leu1222Phe) c.11839C>T (p.Leu3947Phe) c.11938C>T (p.Leu3980Phe) c.11695C>T (p.Leu3899Phe) c.11470C>T (p.Leu3824Phe) c.9469C>T (p.Leu3157Phe) c.8698C>T (p.Leu2900Phe) c.6070C>T (p.Leu2024Phe) c.5119C>T (p.Leu1707Phe) | gnomAD v4 |
15 | g.28141494G>C | CA391381164 | HERC2 | c.11953C>G (p.Leu3985Val) c.3664C>G (p.Leu1222Val) c.11839C>G (p.Leu3947Val) c.11938C>G (p.Leu3980Val) c.11695C>G (p.Leu3899Val) c.11470C>G (p.Leu3824Val) c.9469C>G (p.Leu3157Val) c.8698C>G (p.Leu2900Val) c.6070C>G (p.Leu2024Val) c.5119C>G (p.Leu1707Val) | dbSNP gnomAD v4 |
15 | g.28141494G= | CA2166479857 | HERC2 | c.11953C= (p.Leu3985=) c.3664C= (p.Leu1222=) c.11839C= (p.Leu3947=) c.11938C= (p.Leu3980=) c.11695C= (p.Leu3899=) c.11470C= (p.Leu3824=) c.9469C= (p.Leu3157=) c.8698C= (p.Leu2900=) c.6070C= (p.Leu2024=) c.5119C= (p.Leu1707=) | |
15 | g.28141494G>T | CA391381167 | HERC2 | c.11953C>A (p.Leu3985Ile) c.3664C>A (p.Leu1222Ile) c.11839C>A (p.Leu3947Ile) c.11938C>A (p.Leu3980Ile) c.11695C>A (p.Leu3899Ile) c.11470C>A (p.Leu3824Ile) c.9469C>A (p.Leu3157Ile) c.8698C>A (p.Leu2900Ile) c.6070C>A (p.Leu2024Ile) c.5119C>A (p.Leu1707Ile) | |
15 | g.28141495A>C | CA489234698 | HERC2 | c.11952T>G (p.Thr3984=) c.3663T>G (p.Thr1221=) c.11838T>G (p.Thr3946=) c.11937T>G (p.Thr3979=) c.11694T>G (p.Thr3898=) c.11469T>G (p.Thr3823=) c.9468T>G (p.Thr3156=) c.8697T>G (p.Thr2899=) c.6069T>G (p.Thr2023=) c.5118T>G (p.Thr1706=) | |
15 | g.28141495A>G | CA489234700 | HERC2 | c.11952T>C (p.Thr3984=) c.3663T>C (p.Thr1221=) c.11838T>C (p.Thr3946=) c.11937T>C (p.Thr3979=) c.11694T>C (p.Thr3898=) c.11469T>C (p.Thr3823=) c.9468T>C (p.Thr3156=) c.8697T>C (p.Thr2899=) c.6069T>C (p.Thr2023=) c.5118T>C (p.Thr1706=) | |
15 | g.28141495A>T | CA489234703 | HERC2 | c.11952T>A (p.Thr3984=) c.3663T>A (p.Thr1221=) c.11838T>A (p.Thr3946=) c.11937T>A (p.Thr3979=) c.11694T>A (p.Thr3898=) c.11469T>A (p.Thr3823=) c.9468T>A (p.Thr3156=) c.8697T>A (p.Thr2899=) c.6069T>A (p.Thr2023=) c.5118T>A (p.Thr1706=) | |
15 | g.28141496G>A | CA391381172 | HERC2 | c.11951C>T (p.Thr3984Ile) c.3662C>T (p.Thr1221Ile) c.11837C>T (p.Thr3946Ile) c.11936C>T (p.Thr3979Ile) c.11693C>T (p.Thr3898Ile) c.11468C>T (p.Thr3823Ile) c.9467C>T (p.Thr3156Ile) c.8696C>T (p.Thr2899Ile) c.6068C>T (p.Thr2023Ile) c.5117C>T (p.Thr1706Ile) | |
15 | g.28141496G>C | CA391381174 | HERC2 | c.11951C>G (p.Thr3984Ser) c.3662C>G (p.Thr1221Ser) c.11837C>G (p.Thr3946Ser) c.11936C>G (p.Thr3979Ser) c.11693C>G (p.Thr3898Ser) c.11468C>G (p.Thr3823Ser) c.9467C>G (p.Thr3156Ser) c.8696C>G (p.Thr2899Ser) c.6068C>G (p.Thr2023Ser) c.5117C>G (p.Thr1706Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141496G= | CA2166479859 | HERC2 | c.11951C= (p.Thr3984=) c.3662C= (p.Thr1221=) c.11837C= (p.Thr3946=) c.11936C= (p.Thr3979=) c.11693C= (p.Thr3898=) c.11468C= (p.Thr3823=) c.9467C= (p.Thr3156=) c.8696C= (p.Thr2899=) c.6068C= (p.Thr2023=) c.5117C= (p.Thr1706=) | |
15 | g.28141496G>T | CA391381170 | HERC2 | c.11951C>A (p.Thr3984Asn) c.3662C>A (p.Thr1221Asn) c.11837C>A (p.Thr3946Asn) c.11936C>A (p.Thr3979Asn) c.11693C>A (p.Thr3898Asn) c.11468C>A (p.Thr3823Asn) c.9467C>A (p.Thr3156Asn) c.8696C>A (p.Thr2899Asn) c.6068C>A (p.Thr2023Asn) c.5117C>A (p.Thr1706Asn) | |
15 | g.28141497T>A | CA391381177 | HERC2 | c.11950A>T (p.Thr3984Ser) c.3661A>T (p.Thr1221Ser) c.11836A>T (p.Thr3946Ser) c.11935A>T (p.Thr3979Ser) c.11692A>T (p.Thr3898Ser) c.11467A>T (p.Thr3823Ser) c.9466A>T (p.Thr3156Ser) c.8695A>T (p.Thr2899Ser) c.6067A>T (p.Thr2023Ser) c.5116A>T (p.Thr1706Ser) | dbSNP |
15 | g.28141497T>C | CA7440428 | HERC2 | c.11950A>G (p.Thr3984Ala) c.3661A>G (p.Thr1221Ala) c.11836A>G (p.Thr3946Ala) c.11935A>G (p.Thr3979Ala) c.11692A>G (p.Thr3898Ala) c.11467A>G (p.Thr3823Ala) c.9466A>G (p.Thr3156Ala) c.8695A>G (p.Thr2899Ala) c.6067A>G (p.Thr2023Ala) c.5116A>G (p.Thr1706Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141497T>G | CA391381180 | HERC2 | c.11950A>C (p.Thr3984Pro) c.3661A>C (p.Thr1221Pro) c.11836A>C (p.Thr3946Pro) c.11935A>C (p.Thr3979Pro) c.11692A>C (p.Thr3898Pro) c.11467A>C (p.Thr3823Pro) c.9466A>C (p.Thr3156Pro) c.8695A>C (p.Thr2899Pro) c.6067A>C (p.Thr2023Pro) c.5116A>C (p.Thr1706Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141497T= | CA2166479861 | HERC2 | c.11950A= (p.Thr3984=) c.3661A= (p.Thr1221=) c.11836A= (p.Thr3946=) c.11935A= (p.Thr3979=) c.11692A= (p.Thr3898=) c.11467A= (p.Thr3823=) c.9466A= (p.Thr3156=) c.8695A= (p.Thr2899=) c.6067A= (p.Thr2023=) c.5116A= (p.Thr1706=) | |
15 | g.28141498T>A | CA489234704 | HERC2 | c.11949A>T (p.Ala3983=) c.3660A>T (p.Ala1220=) c.11835A>T (p.Ala3945=) c.11934A>T (p.Ala3978=) c.11691A>T (p.Ala3897=) c.11466A>T (p.Ala3822=) c.9465A>T (p.Ala3155=) c.8694A>T (p.Ala2898=) c.6066A>T (p.Ala2022=) c.5115A>T (p.Ala1705=) | |
15 | g.28141498T>C | CA489234705 | HERC2 | c.11949A>G (p.Ala3983=) c.3660A>G (p.Ala1220=) c.11835A>G (p.Ala3945=) c.11934A>G (p.Ala3978=) c.11691A>G (p.Ala3897=) c.11466A>G (p.Ala3822=) c.9465A>G (p.Ala3155=) c.8694A>G (p.Ala2898=) c.6066A>G (p.Ala2022=) c.5115A>G (p.Ala1705=) | |
15 | g.28141498T>G | CA489234706 | HERC2 | c.11949A>C (p.Ala3983=) c.3660A>C (p.Ala1220=) c.11835A>C (p.Ala3945=) c.11934A>C (p.Ala3978=) c.11691A>C (p.Ala3897=) c.11466A>C (p.Ala3822=) c.9465A>C (p.Ala3155=) c.8694A>C (p.Ala2898=) c.6066A>C (p.Ala2022=) c.5115A>C (p.Ala1705=) | dbSNP gnomAD v4 |
15 | g.28141498T= | CA2166479863 | HERC2 | c.11949A= (p.Ala3983=) c.3660A= (p.Ala1220=) c.11835A= (p.Ala3945=) c.11934A= (p.Ala3978=) c.11691A= (p.Ala3897=) c.11466A= (p.Ala3822=) c.9465A= (p.Ala3155=) c.8694A= (p.Ala2898=) c.6066A= (p.Ala2022=) c.5115A= (p.Ala1705=) | |
15 | g.28141499G>A | CA391381183 | HERC2 | c.11948C>T (p.Ala3983Val) c.3659C>T (p.Ala1220Val) c.11834C>T (p.Ala3945Val) c.11933C>T (p.Ala3978Val) c.11690C>T (p.Ala3897Val) c.11465C>T (p.Ala3822Val) c.9464C>T (p.Ala3155Val) c.8693C>T (p.Ala2898Val) c.6065C>T (p.Ala2022Val) c.5114C>T (p.Ala1705Val) | |
15 | g.28141499G>C | CA391381186 | HERC2 | c.11948C>G (p.Ala3983Gly) c.3659C>G (p.Ala1220Gly) c.11834C>G (p.Ala3945Gly) c.11933C>G (p.Ala3978Gly) c.11690C>G (p.Ala3897Gly) c.11465C>G (p.Ala3822Gly) c.9464C>G (p.Ala3155Gly) c.8693C>G (p.Ala2898Gly) c.6065C>G (p.Ala2022Gly) c.5114C>G (p.Ala1705Gly) | |
15 | g.28141499G>T | CA391381188 | HERC2 | c.11948C>A (p.Ala3983Glu) c.3659C>A (p.Ala1220Glu) c.11834C>A (p.Ala3945Glu) c.11933C>A (p.Ala3978Glu) c.11690C>A (p.Ala3897Glu) c.11465C>A (p.Ala3822Glu) c.9464C>A (p.Ala3155Glu) c.8693C>A (p.Ala2898Glu) c.6065C>A (p.Ala2022Glu) c.5114C>A (p.Ala1705Glu) | |
15 | g.28141500C>A | CA391381190 | HERC2 | c.11947G>T (p.Ala3983Ser) c.3658G>T (p.Ala1220Ser) c.11833G>T (p.Ala3945Ser) c.11932G>T (p.Ala3978Ser) c.11689G>T (p.Ala3897Ser) c.11464G>T (p.Ala3822Ser) c.9463G>T (p.Ala3155Ser) c.8692G>T (p.Ala2898Ser) c.6064G>T (p.Ala2022Ser) c.5113G>T (p.Ala1705Ser) | |
15 | g.28141500C>G | CA391381193 | HERC2 | c.11947G>C (p.Ala3983Pro) c.3658G>C (p.Ala1220Pro) c.11833G>C (p.Ala3945Pro) c.11932G>C (p.Ala3978Pro) c.11689G>C (p.Ala3897Pro) c.11464G>C (p.Ala3822Pro) c.9463G>C (p.Ala3155Pro) c.8692G>C (p.Ala2898Pro) c.6064G>C (p.Ala2022Pro) c.5113G>C (p.Ala1705Pro) | |
15 | g.28141500C>T | CA391381195 | HERC2 | c.11947G>A (p.Ala3983Thr) c.3658G>A (p.Ala1220Thr) c.11833G>A (p.Ala3945Thr) c.11932G>A (p.Ala3978Thr) c.11689G>A (p.Ala3897Thr) c.11464G>A (p.Ala3822Thr) c.9463G>A (p.Ala3155Thr) c.8692G>A (p.Ala2898Thr) c.6064G>A (p.Ala2022Thr) c.5113G>A (p.Ala1705Thr) | |
15 | g.28141501A>C | CA489234707 | HERC2 | c.11946T>G (p.Leu3982=) c.3657T>G (p.Leu1219=) c.11832T>G (p.Leu3944=) c.11931T>G (p.Leu3977=) c.11688T>G (p.Leu3896=) c.11463T>G (p.Leu3821=) c.9462T>G (p.Leu3154=) c.8691T>G (p.Leu2897=) c.6063T>G (p.Leu2021=) c.5112T>G (p.Leu1704=) | |
15 | g.28141501A>G | CA489234708 | HERC2 | c.11946T>C (p.Leu3982=) c.3657T>C (p.Leu1219=) c.11832T>C (p.Leu3944=) c.11931T>C (p.Leu3977=) c.11688T>C (p.Leu3896=) c.11463T>C (p.Leu3821=) c.9462T>C (p.Leu3154=) c.8691T>C (p.Leu2897=) c.6063T>C (p.Leu2021=) c.5112T>C (p.Leu1704=) | |
15 | g.28141501A>T | CA489234710 | HERC2 | c.11946T>A (p.Leu3982=) c.3657T>A (p.Leu1219=) c.11832T>A (p.Leu3944=) c.11931T>A (p.Leu3977=) c.11688T>A (p.Leu3896=) c.11463T>A (p.Leu3821=) c.9462T>A (p.Leu3154=) c.8691T>A (p.Leu2897=) c.6063T>A (p.Leu2021=) c.5112T>A (p.Leu1704=) | |
15 | g.28141502A>C | CA391381198 | HERC2 | c.11945T>G (p.Leu3982Arg) c.3656T>G (p.Leu1219Arg) c.11831T>G (p.Leu3944Arg) c.11930T>G (p.Leu3977Arg) c.11687T>G (p.Leu3896Arg) c.11462T>G (p.Leu3821Arg) c.9461T>G (p.Leu3154Arg) c.8690T>G (p.Leu2897Arg) c.6062T>G (p.Leu2021Arg) c.5111T>G (p.Leu1704Arg) | |
15 | g.28141502A>G | CA391381200 | HERC2 | c.11945T>C (p.Leu3982Pro) c.3656T>C (p.Leu1219Pro) c.11831T>C (p.Leu3944Pro) c.11930T>C (p.Leu3977Pro) c.11687T>C (p.Leu3896Pro) c.11462T>C (p.Leu3821Pro) c.9461T>C (p.Leu3154Pro) c.8690T>C (p.Leu2897Pro) c.6062T>C (p.Leu2021Pro) c.5111T>C (p.Leu1704Pro) | |
15 | g.28141502A>T | CA391381203 | HERC2 | c.11945T>A (p.Leu3982His) c.3656T>A (p.Leu1219His) c.11831T>A (p.Leu3944His) c.11930T>A (p.Leu3977His) c.11687T>A (p.Leu3896His) c.11462T>A (p.Leu3821His) c.9461T>A (p.Leu3154His) c.8690T>A (p.Leu2897His) c.6062T>A (p.Leu2021His) c.5111T>A (p.Leu1704His) | |
15 | g.28141503G>A | CA391381209 | HERC2 | c.11944C>T (p.Leu3982Phe) c.3655C>T (p.Leu1219Phe) c.11830C>T (p.Leu3944Phe) c.11929C>T (p.Leu3977Phe) c.11686C>T (p.Leu3896Phe) c.11461C>T (p.Leu3821Phe) c.9460C>T (p.Leu3154Phe) c.8689C>T (p.Leu2897Phe) c.6061C>T (p.Leu2021Phe) c.5110C>T (p.Leu1704Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141503G>C | CA391381211 | HERC2 | c.11944C>G (p.Leu3982Val) c.3655C>G (p.Leu1219Val) c.11830C>G (p.Leu3944Val) c.11929C>G (p.Leu3977Val) c.11686C>G (p.Leu3896Val) c.11461C>G (p.Leu3821Val) c.9460C>G (p.Leu3154Val) c.8689C>G (p.Leu2897Val) c.6061C>G (p.Leu2021Val) c.5110C>G (p.Leu1704Val) | |
15 | g.28141503G= | CA2166479865 | HERC2 | c.11944C= (p.Leu3982=) c.3655C= (p.Leu1219=) c.11830C= (p.Leu3944=) c.11929C= (p.Leu3977=) c.11686C= (p.Leu3896=) c.11461C= (p.Leu3821=) c.9460C= (p.Leu3154=) c.8689C= (p.Leu2897=) c.6061C= (p.Leu2021=) c.5110C= (p.Leu1704=) | |
15 | g.28141503G>T | CA391381206 | HERC2 | c.11944C>A (p.Leu3982Ile) c.3655C>A (p.Leu1219Ile) c.11830C>A (p.Leu3944Ile) c.11929C>A (p.Leu3977Ile) c.11686C>A (p.Leu3896Ile) c.11461C>A (p.Leu3821Ile) c.9460C>A (p.Leu3154Ile) c.8689C>A (p.Leu2897Ile) c.6061C>A (p.Leu2021Ile) c.5110C>A (p.Leu1704Ile) | |
15 | g.28141504G>A | CA267946081 | HERC2 | c.11943C>T (p.Ala3981=) c.3654C>T (p.Ala1218=) c.11829C>T (p.Ala3943=) c.11928C>T (p.Ala3976=) c.11685C>T (p.Ala3895=) c.11460C>T (p.Ala3820=) c.9459C>T (p.Ala3153=) c.8688C>T (p.Ala2896=) c.6060C>T (p.Ala2020=) c.5109C>T (p.Ala1703=) | dbSNP |
15 | g.28141504G>C | CA489234715 | HERC2 | c.11943C>G (p.Ala3981=) c.3654C>G (p.Ala1218=) c.11829C>G (p.Ala3943=) c.11928C>G (p.Ala3976=) c.11685C>G (p.Ala3895=) c.11460C>G (p.Ala3820=) c.9459C>G (p.Ala3153=) c.8688C>G (p.Ala2896=) c.6060C>G (p.Ala2020=) c.5109C>G (p.Ala1703=) | |
15 | g.28141504G= | CA2166479867 | HERC2 | c.11943C= (p.Ala3981=) c.3654C= (p.Ala1218=) c.11829C= (p.Ala3943=) c.11928C= (p.Ala3976=) c.11685C= (p.Ala3895=) c.11460C= (p.Ala3820=) c.9459C= (p.Ala3153=) c.8688C= (p.Ala2896=) c.6060C= (p.Ala2020=) c.5109C= (p.Ala1703=) | |
15 | g.28141504G>T | CA489234713 | HERC2 | c.11943C>A (p.Ala3981=) c.3654C>A (p.Ala1218=) c.11829C>A (p.Ala3943=) c.11928C>A (p.Ala3976=) c.11685C>A (p.Ala3895=) c.11460C>A (p.Ala3820=) c.9459C>A (p.Ala3153=) c.8688C>A (p.Ala2896=) c.6060C>A (p.Ala2020=) c.5109C>A (p.Ala1703=) | |
15 | g.28141505G>A | CA391381216 | HERC2 | c.11942C>T (p.Ala3981Val) c.3653C>T (p.Ala1218Val) c.11828C>T (p.Ala3943Val) c.11927C>T (p.Ala3976Val) c.11684C>T (p.Ala3895Val) c.11459C>T (p.Ala3820Val) c.9458C>T (p.Ala3153Val) c.8687C>T (p.Ala2896Val) c.6059C>T (p.Ala2020Val) c.5108C>T (p.Ala1703Val) | gnomAD v4 |
15 | g.28141505G>C | CA391381218 | HERC2 | c.11942C>G (p.Ala3981Gly) c.3653C>G (p.Ala1218Gly) c.11828C>G (p.Ala3943Gly) c.11927C>G (p.Ala3976Gly) c.11684C>G (p.Ala3895Gly) c.11459C>G (p.Ala3820Gly) c.9458C>G (p.Ala3153Gly) c.8687C>G (p.Ala2896Gly) c.6059C>G (p.Ala2020Gly) c.5108C>G (p.Ala1703Gly) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141505G= | CA2166479869 | HERC2 | c.11942C= (p.Ala3981=) c.3653C= (p.Ala1218=) c.11828C= (p.Ala3943=) c.11927C= (p.Ala3976=) c.11684C= (p.Ala3895=) c.11459C= (p.Ala3820=) c.9458C= (p.Ala3153=) c.8687C= (p.Ala2896=) c.6059C= (p.Ala2020=) c.5108C= (p.Ala1703=) | |
15 | g.28141505G>T | CA391381220 | HERC2 | c.11942C>A (p.Ala3981Asp) c.3653C>A (p.Ala1218Asp) c.11828C>A (p.Ala3943Asp) c.11927C>A (p.Ala3976Asp) c.11684C>A (p.Ala3895Asp) c.11459C>A (p.Ala3820Asp) c.9458C>A (p.Ala3153Asp) c.8687C>A (p.Ala2896Asp) c.6059C>A (p.Ala2020Asp) c.5108C>A (p.Ala1703Asp) | |
15 | g.28141506C>A | CA391381222 | HERC2 | c.11941G>T (p.Ala3981Ser) c.3652G>T (p.Ala1218Ser) c.11827G>T (p.Ala3943Ser) c.11926G>T (p.Ala3976Ser) c.11683G>T (p.Ala3895Ser) c.11458G>T (p.Ala3820Ser) c.9457G>T (p.Ala3153Ser) c.8686G>T (p.Ala2896Ser) c.6058G>T (p.Ala2020Ser) c.5107G>T (p.Ala1703Ser) | |
15 | g.28141506C= | CA2166479871 | HERC2 | c.11941G= (p.Ala3981=) c.3652G= (p.Ala1218=) c.11827G= (p.Ala3943=) c.11926G= (p.Ala3976=) c.11683G= (p.Ala3895=) c.11458G= (p.Ala3820=) c.9457G= (p.Ala3153=) c.8686G= (p.Ala2896=) c.6058G= (p.Ala2020=) c.5107G= (p.Ala1703=) | |
15 | g.28141506C>G | CA391381225 | HERC2 | c.11941G>C (p.Ala3981Pro) c.3652G>C (p.Ala1218Pro) c.11827G>C (p.Ala3943Pro) c.11926G>C (p.Ala3976Pro) c.11683G>C (p.Ala3895Pro) c.11458G>C (p.Ala3820Pro) c.9457G>C (p.Ala3153Pro) c.8686G>C (p.Ala2896Pro) c.6058G>C (p.Ala2020Pro) c.5107G>C (p.Ala1703Pro) | |
15 | g.28141506C>T | CA391381228 | HERC2 | c.11941G>A (p.Ala3981Thr) c.3652G>A (p.Ala1218Thr) c.11827G>A (p.Ala3943Thr) c.11926G>A (p.Ala3976Thr) c.11683G>A (p.Ala3895Thr) c.11458G>A (p.Ala3820Thr) c.9457G>A (p.Ala3153Thr) c.8686G>A (p.Ala2896Thr) c.6058G>A (p.Ala2020Thr) c.5107G>A (p.Ala1703Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141507T>A | CA391381231 | HERC2 | c.11940A>T (p.Glu3980Asp) c.3651A>T (p.Glu1217Asp) c.11826A>T (p.Glu3942Asp) c.11925A>T (p.Glu3975Asp) c.11682A>T (p.Glu3894Asp) c.11457A>T (p.Glu3819Asp) c.9456A>T (p.Glu3152Asp) c.8685A>T (p.Glu2895Asp) c.6057A>T (p.Glu2019Asp) c.5106A>T (p.Glu1702Asp) | |
15 | g.28141507T>C | CA489234717 | HERC2 | c.11940A>G (p.Glu3980=) c.3651A>G (p.Glu1217=) c.11826A>G (p.Glu3942=) c.11925A>G (p.Glu3975=) c.11682A>G (p.Glu3894=) c.11457A>G (p.Glu3819=) c.9456A>G (p.Glu3152=) c.8685A>G (p.Glu2895=) c.6057A>G (p.Glu2019=) c.5106A>G (p.Glu1702=) | |
15 | g.28141507T>G | CA391381234 | HERC2 | c.11940A>C (p.Glu3980Asp) c.3651A>C (p.Glu1217Asp) c.11826A>C (p.Glu3942Asp) c.11925A>C (p.Glu3975Asp) c.11682A>C (p.Glu3894Asp) c.11457A>C (p.Glu3819Asp) c.9456A>C (p.Glu3152Asp) c.8685A>C (p.Glu2895Asp) c.6057A>C (p.Glu2019Asp) c.5106A>C (p.Glu1702Asp) | |
15 | g.28141508T>A | CA391381235 | HERC2 | c.11939A>T (p.Glu3980Val) c.3650A>T (p.Glu1217Val) c.11825A>T (p.Glu3942Val) c.11924A>T (p.Glu3975Val) c.11681A>T (p.Glu3894Val) c.11456A>T (p.Glu3819Val) c.9455A>T (p.Glu3152Val) c.8684A>T (p.Glu2895Val) c.6056A>T (p.Glu2019Val) c.5105A>T (p.Glu1702Val) | |
15 | g.28141508T>C | CA391381237 | HERC2 | c.11939A>G (p.Glu3980Gly) c.3650A>G (p.Glu1217Gly) c.11825A>G (p.Glu3942Gly) c.11924A>G (p.Glu3975Gly) c.11681A>G (p.Glu3894Gly) c.11456A>G (p.Glu3819Gly) c.9455A>G (p.Glu3152Gly) c.8684A>G (p.Glu2895Gly) c.6056A>G (p.Glu2019Gly) c.5105A>G (p.Glu1702Gly) | |
15 | g.28141508T>G | CA391381238 | HERC2 | c.11939A>C (p.Glu3980Ala) c.3650A>C (p.Glu1217Ala) c.11825A>C (p.Glu3942Ala) c.11924A>C (p.Glu3975Ala) c.11681A>C (p.Glu3894Ala) c.11456A>C (p.Glu3819Ala) c.9455A>C (p.Glu3152Ala) c.8684A>C (p.Glu2895Ala) c.6056A>C (p.Glu2019Ala) c.5105A>C (p.Glu1702Ala) | |
15 | g.28141509C>A | CA391381242 | HERC2 | c.11938G>T (p.Glu3980Ter) c.3649G>T (p.Glu1217Ter) c.11824G>T (p.Glu3942Ter) c.11923G>T (p.Glu3975Ter) c.11680G>T (p.Glu3894Ter) c.11455G>T (p.Glu3819Ter) c.9454G>T (p.Glu3152Ter) c.8683G>T (p.Glu2895Ter) c.6055G>T (p.Glu2019Ter) c.5104G>T (p.Glu1702Ter) | COSMIC COSMIC |
15 | g.28141509C>G | CA391381243 | HERC2 | c.11938G>C (p.Glu3980Gln) c.3649G>C (p.Glu1217Gln) c.11824G>C (p.Glu3942Gln) c.11923G>C (p.Glu3975Gln) c.11680G>C (p.Glu3894Gln) c.11455G>C (p.Glu3819Gln) c.9454G>C (p.Glu3152Gln) c.8683G>C (p.Glu2895Gln) c.6055G>C (p.Glu2019Gln) c.5104G>C (p.Glu1702Gln) | |
15 | g.28141509C>T | CA391381245 | HERC2 | c.11938G>A (p.Glu3980Lys) c.3649G>A (p.Glu1217Lys) c.11824G>A (p.Glu3942Lys) c.11923G>A (p.Glu3975Lys) c.11680G>A (p.Glu3894Lys) c.11455G>A (p.Glu3819Lys) c.9454G>A (p.Glu3152Lys) c.8683G>A (p.Glu2895Lys) c.6055G>A (p.Glu2019Lys) c.5104G>A (p.Glu1702Lys) | |
15 | g.28141510A= | CA2166479872 | HERC2 | c.11937T= (p.Cys3979=) c.3648T= (p.Cys1216=) c.11823T= (p.Cys3941=) c.11922T= (p.Cys3974=) c.11679T= (p.Cys3893=) c.11454T= (p.Cys3818=) c.9453T= (p.Cys3151=) c.8682T= (p.Cys2894=) c.6054T= (p.Cys2018=) c.5103T= (p.Cys1701=) | |
15 | g.28141510A>C | CA391381251 | HERC2 | c.11937T>G (p.Cys3979Trp) c.3648T>G (p.Cys1216Trp) c.11823T>G (p.Cys3941Trp) c.11922T>G (p.Cys3974Trp) c.11679T>G (p.Cys3893Trp) c.11454T>G (p.Cys3818Trp) c.9453T>G (p.Cys3151Trp) c.8682T>G (p.Cys2894Trp) c.6054T>G (p.Cys2018Trp) c.5103T>G (p.Cys1701Trp) | |
15 | g.28141510A>G | CA489234720 | HERC2 | c.11937T>C (p.Cys3979=) c.3648T>C (p.Cys1216=) c.11823T>C (p.Cys3941=) c.11922T>C (p.Cys3974=) c.11679T>C (p.Cys3893=) c.11454T>C (p.Cys3818=) c.9453T>C (p.Cys3151=) c.8682T>C (p.Cys2894=) c.6054T>C (p.Cys2018=) c.5103T>C (p.Cys1701=) | dbSNP |
15 | g.28141510A>T | CA391381249 | HERC2 | c.11937T>A (p.Cys3979Ter) c.3648T>A (p.Cys1216Ter) c.11823T>A (p.Cys3941Ter) c.11922T>A (p.Cys3974Ter) c.11679T>A (p.Cys3893Ter) c.11454T>A (p.Cys3818Ter) c.9453T>A (p.Cys3151Ter) c.8682T>A (p.Cys2894Ter) c.6054T>A (p.Cys2018Ter) c.5103T>A (p.Cys1701Ter) | |
15 | g.28141511C>A | CA391381255 | HERC2 | c.11936G>T (p.Cys3979Phe) c.3647G>T (p.Cys1216Phe) c.11822G>T (p.Cys3941Phe) c.11921G>T (p.Cys3974Phe) c.11678G>T (p.Cys3893Phe) c.11453G>T (p.Cys3818Phe) c.9452G>T (p.Cys3151Phe) c.8681G>T (p.Cys2894Phe) c.6053G>T (p.Cys2018Phe) c.5102G>T (p.Cys1701Phe) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141511C= | CA2166479874 | HERC2 | c.11936G= (p.Cys3979=) c.3647G= (p.Cys1216=) c.11822G= (p.Cys3941=) c.11921G= (p.Cys3974=) c.11678G= (p.Cys3893=) c.11453G= (p.Cys3818=) c.9452G= (p.Cys3151=) c.8681G= (p.Cys2894=) c.6053G= (p.Cys2018=) c.5102G= (p.Cys1701=) | |
15 | g.28141511C>G | CA391381260 | HERC2 | c.11936G>C (p.Cys3979Ser) c.3647G>C (p.Cys1216Ser) c.11822G>C (p.Cys3941Ser) c.11921G>C (p.Cys3974Ser) c.11678G>C (p.Cys3893Ser) c.11453G>C (p.Cys3818Ser) c.9452G>C (p.Cys3151Ser) c.8681G>C (p.Cys2894Ser) c.6053G>C (p.Cys2018Ser) c.5102G>C (p.Cys1701Ser) | |
15 | g.28141511C>T | CA391381257 | HERC2 | c.11936G>A (p.Cys3979Tyr) c.3647G>A (p.Cys1216Tyr) c.11822G>A (p.Cys3941Tyr) c.11921G>A (p.Cys3974Tyr) c.11678G>A (p.Cys3893Tyr) c.11453G>A (p.Cys3818Tyr) c.9452G>A (p.Cys3151Tyr) c.8681G>A (p.Cys2894Tyr) c.6053G>A (p.Cys2018Tyr) c.5102G>A (p.Cys1701Tyr) | dbSNP |
15 | g.28141512A= | CA2166479875 | HERC2 | c.11935T= (p.Cys3979=) c.3646T= (p.Cys1216=) c.11821T= (p.Cys3941=) c.11920T= (p.Cys3974=) c.11677T= (p.Cys3893=) c.11452T= (p.Cys3818=) c.9451T= (p.Cys3151=) c.8680T= (p.Cys2894=) c.6052T= (p.Cys2018=) c.5101T= (p.Cys1701=) | |
15 | g.28141512A>C | CA391381263 | HERC2 | c.11935T>G (p.Cys3979Gly) c.3646T>G (p.Cys1216Gly) c.11821T>G (p.Cys3941Gly) c.11920T>G (p.Cys3974Gly) c.11677T>G (p.Cys3893Gly) c.11452T>G (p.Cys3818Gly) c.9451T>G (p.Cys3151Gly) c.8680T>G (p.Cys2894Gly) c.6052T>G (p.Cys2018Gly) c.5101T>G (p.Cys1701Gly) | |
15 | g.28141512A>G | CA391381266 | HERC2 | c.11935T>C (p.Cys3979Arg) c.3646T>C (p.Cys1216Arg) c.11821T>C (p.Cys3941Arg) c.11920T>C (p.Cys3974Arg) c.11677T>C (p.Cys3893Arg) c.11452T>C (p.Cys3818Arg) c.9451T>C (p.Cys3151Arg) c.8680T>C (p.Cys2894Arg) c.6052T>C (p.Cys2018Arg) c.5101T>C (p.Cys1701Arg) | dbSNP |
15 | g.28141512A>T | CA391381264 | HERC2 | c.11935T>A (p.Cys3979Ser) c.3646T>A (p.Cys1216Ser) c.11821T>A (p.Cys3941Ser) c.11920T>A (p.Cys3974Ser) c.11677T>A (p.Cys3893Ser) c.11452T>A (p.Cys3818Ser) c.9451T>A (p.Cys3151Ser) c.8680T>A (p.Cys2894Ser) c.6052T>A (p.Cys2018Ser) c.5101T>A (p.Cys1701Ser) | |
15 | g.28141513G>A | CA489234724 | HERC2 | c.11934C>T (p.Pro3978=) c.3645C>T (p.Pro1215=) c.11820C>T (p.Pro3940=) c.11919C>T (p.Pro3973=) c.11676C>T (p.Pro3892=) c.11451C>T (p.Pro3817=) c.9450C>T (p.Pro3150=) c.8679C>T (p.Pro2893=) c.6051C>T (p.Pro2017=) c.5100C>T (p.Pro1700=) | gnomAD v4 |
15 | g.28141513G>C | CA489234725 | HERC2 | c.11934C>G (p.Pro3978=) c.3645C>G (p.Pro1215=) c.11820C>G (p.Pro3940=) c.11919C>G (p.Pro3973=) c.11676C>G (p.Pro3892=) c.11451C>G (p.Pro3817=) c.9450C>G (p.Pro3150=) c.8679C>G (p.Pro2893=) c.6051C>G (p.Pro2017=) c.5100C>G (p.Pro1700=) | gnomAD v4 |
15 | g.28141513G>T | CA489234726 | HERC2 | c.11934C>A (p.Pro3978=) c.3645C>A (p.Pro1215=) c.11820C>A (p.Pro3940=) c.11919C>A (p.Pro3973=) c.11676C>A (p.Pro3892=) c.11451C>A (p.Pro3817=) c.9450C>A (p.Pro3150=) c.8679C>A (p.Pro2893=) c.6051C>A (p.Pro2017=) c.5100C>A (p.Pro1700=) | |
15 | g.28141514G>A | CA391381269 | HERC2 | c.11933C>T (p.Pro3978Leu) c.3644C>T (p.Pro1215Leu) c.11819C>T (p.Pro3940Leu) c.11918C>T (p.Pro3973Leu) c.11675C>T (p.Pro3892Leu) c.11450C>T (p.Pro3817Leu) c.9449C>T (p.Pro3150Leu) c.8678C>T (p.Pro2893Leu) c.6050C>T (p.Pro2017Leu) c.5099C>T (p.Pro1700Leu) | |
15 | g.28141514G>C | CA7440429 | HERC2 | c.11933C>G (p.Pro3978Arg) c.3644C>G (p.Pro1215Arg) c.11819C>G (p.Pro3940Arg) c.11918C>G (p.Pro3973Arg) c.11675C>G (p.Pro3892Arg) c.11450C>G (p.Pro3817Arg) c.9449C>G (p.Pro3150Arg) c.8678C>G (p.Pro2893Arg) c.6050C>G (p.Pro2017Arg) c.5099C>G (p.Pro1700Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141514G= | CA2166479877 | HERC2 | c.11933C= (p.Pro3978=) c.3644C= (p.Pro1215=) c.11819C= (p.Pro3940=) c.11918C= (p.Pro3973=) c.11675C= (p.Pro3892=) c.11450C= (p.Pro3817=) c.9449C= (p.Pro3150=) c.8678C= (p.Pro2893=) c.6050C= (p.Pro2017=) c.5099C= (p.Pro1700=) | |
15 | g.28141514G>T | CA391381273 | HERC2 | c.11933C>A (p.Pro3978His) c.3644C>A (p.Pro1215His) c.11819C>A (p.Pro3940His) c.11918C>A (p.Pro3973His) c.11675C>A (p.Pro3892His) c.11450C>A (p.Pro3817His) c.9449C>A (p.Pro3150His) c.8678C>A (p.Pro2893His) c.6050C>A (p.Pro2017His) c.5099C>A (p.Pro1700His) | |
15 | g.28141515G>A | CA391381278 | HERC2 | c.11932C>T (p.Pro3978Ser) c.3643C>T (p.Pro1215Ser) c.11818C>T (p.Pro3940Ser) c.11917C>T (p.Pro3973Ser) c.11674C>T (p.Pro3892Ser) c.11449C>T (p.Pro3817Ser) c.9448C>T (p.Pro3150Ser) c.8677C>T (p.Pro2893Ser) c.6049C>T (p.Pro2017Ser) c.5098C>T (p.Pro1700Ser) | COSMIC COSMIC |
15 | g.28141515G>C | CA391381280 | HERC2 | c.11932C>G (p.Pro3978Ala) c.3643C>G (p.Pro1215Ala) c.11818C>G (p.Pro3940Ala) c.11917C>G (p.Pro3973Ala) c.11674C>G (p.Pro3892Ala) c.11449C>G (p.Pro3817Ala) c.9448C>G (p.Pro3150Ala) c.8677C>G (p.Pro2893Ala) c.6049C>G (p.Pro2017Ala) c.5098C>G (p.Pro1700Ala) | gnomAD v4 |
15 | g.28141515G>T | CA391381281 | HERC2 | c.11932C>A (p.Pro3978Thr) c.3643C>A (p.Pro1215Thr) c.11818C>A (p.Pro3940Thr) c.11917C>A (p.Pro3973Thr) c.11674C>A (p.Pro3892Thr) c.11449C>A (p.Pro3817Thr) c.9448C>A (p.Pro3150Thr) c.8677C>A (p.Pro2893Thr) c.6049C>A (p.Pro2017Thr) c.5098C>A (p.Pro1700Thr) | |
15 | g.28141516A>C | CA489234730 | HERC2 | c.11931T>G (p.Thr3977=) c.3642T>G (p.Thr1214=) c.11817T>G (p.Thr3939=) c.11916T>G (p.Thr3972=) c.11673T>G (p.Thr3891=) c.11448T>G (p.Thr3816=) c.9447T>G (p.Thr3149=) c.8676T>G (p.Thr2892=) c.6048T>G (p.Thr2016=) c.5097T>G (p.Thr1699=) | |
15 | g.28141516A>G | CA489234732 | HERC2 | c.11931T>C (p.Thr3977=) c.3642T>C (p.Thr1214=) c.11817T>C (p.Thr3939=) c.11916T>C (p.Thr3972=) c.11673T>C (p.Thr3891=) c.11448T>C (p.Thr3816=) c.9447T>C (p.Thr3149=) c.8676T>C (p.Thr2892=) c.6048T>C (p.Thr2016=) c.5097T>C (p.Thr1699=) | |
15 | g.28141516A>T | CA489234731 | HERC2 | c.11931T>A (p.Thr3977=) c.3642T>A (p.Thr1214=) c.11817T>A (p.Thr3939=) c.11916T>A (p.Thr3972=) c.11673T>A (p.Thr3891=) c.11448T>A (p.Thr3816=) c.9447T>A (p.Thr3149=) c.8676T>A (p.Thr2892=) c.6048T>A (p.Thr2016=) c.5097T>A (p.Thr1699=) | |
15 | g.28141517G>A | CA391381282 | HERC2 | c.11930C>T (p.Thr3977Ile) c.3641C>T (p.Thr1214Ile) c.11816C>T (p.Thr3939Ile) c.11915C>T (p.Thr3972Ile) c.11672C>T (p.Thr3891Ile) c.11447C>T (p.Thr3816Ile) c.9446C>T (p.Thr3149Ile) c.8675C>T (p.Thr2892Ile) c.6047C>T (p.Thr2016Ile) c.5096C>T (p.Thr1699Ile) | gnomAD v4 |
15 | g.28141517G>C | CA391381283 | HERC2 | c.11930C>G (p.Thr3977Ser) c.3641C>G (p.Thr1214Ser) c.11816C>G (p.Thr3939Ser) c.11915C>G (p.Thr3972Ser) c.11672C>G (p.Thr3891Ser) c.11447C>G (p.Thr3816Ser) c.9446C>G (p.Thr3149Ser) c.8675C>G (p.Thr2892Ser) c.6047C>G (p.Thr2016Ser) c.5096C>G (p.Thr1699Ser) | |
15 | g.28141517G>T | CA391381284 | HERC2 | c.11930C>A (p.Thr3977Asn) c.3641C>A (p.Thr1214Asn) c.11816C>A (p.Thr3939Asn) c.11915C>A (p.Thr3972Asn) c.11672C>A (p.Thr3891Asn) c.11447C>A (p.Thr3816Asn) c.9446C>A (p.Thr3149Asn) c.8675C>A (p.Thr2892Asn) c.6047C>A (p.Thr2016Asn) c.5096C>A (p.Thr1699Asn) | |
15 | g.28141518T>A | CA391381285 | HERC2 | c.11929A>T (p.Thr3977Ser) c.3640A>T (p.Thr1214Ser) c.11815A>T (p.Thr3939Ser) c.11914A>T (p.Thr3972Ser) c.11671A>T (p.Thr3891Ser) c.11446A>T (p.Thr3816Ser) c.9445A>T (p.Thr3149Ser) c.8674A>T (p.Thr2892Ser) c.6046A>T (p.Thr2016Ser) c.5095A>T (p.Thr1699Ser) | |
15 | g.28141518T>C | CA391381287 | HERC2 | c.11929A>G (p.Thr3977Ala) c.3640A>G (p.Thr1214Ala) c.11815A>G (p.Thr3939Ala) c.11914A>G (p.Thr3972Ala) c.11671A>G (p.Thr3891Ala) c.11446A>G (p.Thr3816Ala) c.9445A>G (p.Thr3149Ala) c.8674A>G (p.Thr2892Ala) c.6046A>G (p.Thr2016Ala) c.5095A>G (p.Thr1699Ala) | |
15 | g.28141518T>G | CA391381289 | HERC2 | c.11929A>C (p.Thr3977Pro) c.3640A>C (p.Thr1214Pro) c.11815A>C (p.Thr3939Pro) c.11914A>C (p.Thr3972Pro) c.11671A>C (p.Thr3891Pro) c.11446A>C (p.Thr3816Pro) c.9445A>C (p.Thr3149Pro) c.8674A>C (p.Thr2892Pro) c.6046A>C (p.Thr2016Pro) c.5095A>C (p.Thr1699Pro) | |
15 | g.28141519G>A | CA489234738 | HERC2 | c.11928C>T (p.Pro3976=) c.3639C>T (p.Pro1213=) c.11814C>T (p.Pro3938=) c.11913C>T (p.Pro3971=) c.11670C>T (p.Pro3890=) c.11445C>T (p.Pro3815=) c.9444C>T (p.Pro3148=) c.8673C>T (p.Pro2891=) c.6045C>T (p.Pro2015=) c.5094C>T (p.Pro1698=) | |
15 | g.28141519G>C | CA489234736 | HERC2 | c.11928C>G (p.Pro3976=) c.3639C>G (p.Pro1213=) c.11814C>G (p.Pro3938=) c.11913C>G (p.Pro3971=) c.11670C>G (p.Pro3890=) c.11445C>G (p.Pro3815=) c.9444C>G (p.Pro3148=) c.8673C>G (p.Pro2891=) c.6045C>G (p.Pro2015=) c.5094C>G (p.Pro1698=) | |
15 | g.28141519G>T | CA489234735 | HERC2 | c.11928C>A (p.Pro3976=) c.3639C>A (p.Pro1213=) c.11814C>A (p.Pro3938=) c.11913C>A (p.Pro3971=) c.11670C>A (p.Pro3890=) c.11445C>A (p.Pro3815=) c.9444C>A (p.Pro3148=) c.8673C>A (p.Pro2891=) c.6045C>A (p.Pro2015=) c.5094C>A (p.Pro1698=) | |
15 | g.28141520G>A | CA391381290 | HERC2 | c.11927C>T (p.Pro3976Leu) c.3638C>T (p.Pro1213Leu) c.11813C>T (p.Pro3938Leu) c.11912C>T (p.Pro3971Leu) c.11669C>T (p.Pro3890Leu) c.11444C>T (p.Pro3815Leu) c.9443C>T (p.Pro3148Leu) c.8672C>T (p.Pro2891Leu) c.6044C>T (p.Pro2015Leu) c.5093C>T (p.Pro1698Leu) | |
15 | g.28141520G>C | CA7440430 | HERC2 | c.11927C>G (p.Pro3976Arg) c.3638C>G (p.Pro1213Arg) c.11813C>G (p.Pro3938Arg) c.11912C>G (p.Pro3971Arg) c.11669C>G (p.Pro3890Arg) c.11444C>G (p.Pro3815Arg) c.9443C>G (p.Pro3148Arg) c.8672C>G (p.Pro2891Arg) c.6044C>G (p.Pro2015Arg) c.5093C>G (p.Pro1698Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141520G= | CA2166479878 | HERC2 | c.11927C= (p.Pro3976=) c.3638C= (p.Pro1213=) c.11813C= (p.Pro3938=) c.11912C= (p.Pro3971=) c.11669C= (p.Pro3890=) c.11444C= (p.Pro3815=) c.9443C= (p.Pro3148=) c.8672C= (p.Pro2891=) c.6044C= (p.Pro2015=) c.5093C= (p.Pro1698=) | |
15 | g.28141520G>T | CA391381291 | HERC2 | c.11927C>A (p.Pro3976His) c.3638C>A (p.Pro1213His) c.11813C>A (p.Pro3938His) c.11912C>A (p.Pro3971His) c.11669C>A (p.Pro3890His) c.11444C>A (p.Pro3815His) c.9443C>A (p.Pro3148His) c.8672C>A (p.Pro2891His) c.6044C>A (p.Pro2015His) c.5093C>A (p.Pro1698His) | |
15 | g.28141521G>A | CA7440431 | HERC2 | c.11926C>T (p.Pro3976Ser) c.3637C>T (p.Pro1213Ser) c.11812C>T (p.Pro3938Ser) c.11911C>T (p.Pro3971Ser) c.11668C>T (p.Pro3890Ser) c.11443C>T (p.Pro3815Ser) c.9442C>T (p.Pro3148Ser) c.8671C>T (p.Pro2891Ser) c.6043C>T (p.Pro2015Ser) c.5092C>T (p.Pro1698Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141521G>C | CA391381294 | HERC2 | c.11926C>G (p.Pro3976Ala) c.3637C>G (p.Pro1213Ala) c.11812C>G (p.Pro3938Ala) c.11911C>G (p.Pro3971Ala) c.11668C>G (p.Pro3890Ala) c.11443C>G (p.Pro3815Ala) c.9442C>G (p.Pro3148Ala) c.8671C>G (p.Pro2891Ala) c.6043C>G (p.Pro2015Ala) c.5092C>G (p.Pro1698Ala) | |
15 | g.28141521G= | CA2166479881 | HERC2 | c.11926C= (p.Pro3976=) c.3637C= (p.Pro1213=) c.11812C= (p.Pro3938=) c.11911C= (p.Pro3971=) c.11668C= (p.Pro3890=) c.11443C= (p.Pro3815=) c.9442C= (p.Pro3148=) c.8671C= (p.Pro2891=) c.6043C= (p.Pro2015=) c.5092C= (p.Pro1698=) | |
15 | g.28141521G>T | CA391381295 | HERC2 | c.11926C>A (p.Pro3976Thr) c.3637C>A (p.Pro1213Thr) c.11812C>A (p.Pro3938Thr) c.11911C>A (p.Pro3971Thr) c.11668C>A (p.Pro3890Thr) c.11443C>A (p.Pro3815Thr) c.9442C>A (p.Pro3148Thr) c.8671C>A (p.Pro2891Thr) c.6043C>A (p.Pro2015Thr) c.5092C>A (p.Pro1698Thr) | |
15 | g.28141522A>C | CA489234739 | HERC2 | c.11925T>G (p.Val3975=) c.3636T>G (p.Val1212=) c.11811T>G (p.Val3937=) c.11910T>G (p.Val3970=) c.11667T>G (p.Val3889=) c.11442T>G (p.Val3814=) c.9441T>G (p.Val3147=) c.8670T>G (p.Val2890=) c.6042T>G (p.Val2014=) c.5091T>G (p.Val1697=) | |
15 | g.28141522A>G | CA489234741 | HERC2 | c.11925T>C (p.Val3975=) c.3636T>C (p.Val1212=) c.11811T>C (p.Val3937=) c.11910T>C (p.Val3970=) c.11667T>C (p.Val3889=) c.11442T>C (p.Val3814=) c.9441T>C (p.Val3147=) c.8670T>C (p.Val2890=) c.6042T>C (p.Val2014=) c.5091T>C (p.Val1697=) | |
15 | g.28141522A>T | CA489234740 | HERC2 | c.11925T>A (p.Val3975=) c.3636T>A (p.Val1212=) c.11811T>A (p.Val3937=) c.11910T>A (p.Val3970=) c.11667T>A (p.Val3889=) c.11442T>A (p.Val3814=) c.9441T>A (p.Val3147=) c.8670T>A (p.Val2890=) c.6042T>A (p.Val2014=) c.5091T>A (p.Val1697=) | |
15 | g.28141523A>C | CA391381296 | HERC2 | c.11924T>G (p.Val3975Gly) c.3635T>G (p.Val1212Gly) c.11810T>G (p.Val3937Gly) c.11909T>G (p.Val3970Gly) c.11666T>G (p.Val3889Gly) c.11441T>G (p.Val3814Gly) c.9440T>G (p.Val3147Gly) c.8669T>G (p.Val2890Gly) c.6041T>G (p.Val2014Gly) c.5090T>G (p.Val1697Gly) | |
15 | g.28141523A>G | CA391381298 | HERC2 | c.11924T>C (p.Val3975Ala) c.3635T>C (p.Val1212Ala) c.11810T>C (p.Val3937Ala) c.11909T>C (p.Val3970Ala) c.11666T>C (p.Val3889Ala) c.11441T>C (p.Val3814Ala) c.9440T>C (p.Val3147Ala) c.8669T>C (p.Val2890Ala) c.6041T>C (p.Val2014Ala) c.5090T>C (p.Val1697Ala) | |
15 | g.28141523A>T | CA391381299 | HERC2 | c.11924T>A (p.Val3975Asp) c.3635T>A (p.Val1212Asp) c.11810T>A (p.Val3937Asp) c.11909T>A (p.Val3970Asp) c.11666T>A (p.Val3889Asp) c.11441T>A (p.Val3814Asp) c.9440T>A (p.Val3147Asp) c.8669T>A (p.Val2890Asp) c.6041T>A (p.Val2014Asp) c.5090T>A (p.Val1697Asp) | |
15 | g.28141524C>A | CA391381301 | HERC2 | c.11923G>T (p.Val3975Phe) c.3634G>T (p.Val1212Phe) c.11809G>T (p.Val3937Phe) c.11908G>T (p.Val3970Phe) c.11665G>T (p.Val3889Phe) c.11440G>T (p.Val3814Phe) c.9439G>T (p.Val3147Phe) c.8668G>T (p.Val2890Phe) c.6040G>T (p.Val2014Phe) c.5089G>T (p.Val1697Phe) | |
15 | g.28141524C= | CA2166479882 | HERC2 | c.11923G= (p.Val3975=) c.3634G= (p.Val1212=) c.11809G= (p.Val3937=) c.11908G= (p.Val3970=) c.11665G= (p.Val3889=) c.11440G= (p.Val3814=) c.9439G= (p.Val3147=) c.8668G= (p.Val2890=) c.6040G= (p.Val2014=) c.5089G= (p.Val1697=) | |
15 | g.28141524C>G | CA7440432 | HERC2 | c.11923G>C (p.Val3975Leu) c.3634G>C (p.Val1212Leu) c.11809G>C (p.Val3937Leu) c.11908G>C (p.Val3970Leu) c.11665G>C (p.Val3889Leu) c.11440G>C (p.Val3814Leu) c.9439G>C (p.Val3147Leu) c.8668G>C (p.Val2890Leu) c.6040G>C (p.Val2014Leu) c.5089G>C (p.Val1697Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141524C>T | CA391381304 | HERC2 | c.11923G>A (p.Val3975Ile) c.3634G>A (p.Val1212Ile) c.11809G>A (p.Val3937Ile) c.11908G>A (p.Val3970Ile) c.11665G>A (p.Val3889Ile) c.11440G>A (p.Val3814Ile) c.9439G>A (p.Val3147Ile) c.8668G>A (p.Val2890Ile) c.6040G>A (p.Val2014Ile) c.5089G>A (p.Val1697Ile) | |
15 | g.28141525T>A | CA391381308 | HERC2 | c.11922A>T (p.Lys3974Asn) c.3633A>T (p.Lys1211Asn) c.11808A>T (p.Lys3936Asn) c.11907A>T (p.Lys3969Asn) c.11664A>T (p.Lys3888Asn) c.11439A>T (p.Lys3813Asn) c.9438A>T (p.Lys3146Asn) c.8667A>T (p.Lys2889Asn) c.6039A>T (p.Lys2013Asn) c.5088A>T (p.Lys1696Asn) | |
15 | g.28141525T>C | CA489234743 | HERC2 | c.11922A>G (p.Lys3974=) c.3633A>G (p.Lys1211=) c.11808A>G (p.Lys3936=) c.11907A>G (p.Lys3969=) c.11664A>G (p.Lys3888=) c.11439A>G (p.Lys3813=) c.9438A>G (p.Lys3146=) c.8667A>G (p.Lys2889=) c.6039A>G (p.Lys2013=) c.5088A>G (p.Lys1696=) | |
15 | g.28141525T>G | CA391381307 | HERC2 | c.11922A>C (p.Lys3974Asn) c.3633A>C (p.Lys1211Asn) c.11808A>C (p.Lys3936Asn) c.11907A>C (p.Lys3969Asn) c.11664A>C (p.Lys3888Asn) c.11439A>C (p.Lys3813Asn) c.9438A>C (p.Lys3146Asn) c.8667A>C (p.Lys2889Asn) c.6039A>C (p.Lys2013Asn) c.5088A>C (p.Lys1696Asn) | |
15 | g.28141526T>A | CA391381309 | HERC2 | c.11921A>T (p.Lys3974Ile) c.3632A>T (p.Lys1211Ile) c.11807A>T (p.Lys3936Ile) c.11906A>T (p.Lys3969Ile) c.11663A>T (p.Lys3888Ile) c.11438A>T (p.Lys3813Ile) c.9437A>T (p.Lys3146Ile) c.8666A>T (p.Lys2889Ile) c.6038A>T (p.Lys2013Ile) c.5087A>T (p.Lys1696Ile) | |
15 | g.28141526T>C | CA391381311 | HERC2 | c.11921A>G (p.Lys3974Arg) c.3632A>G (p.Lys1211Arg) c.11807A>G (p.Lys3936Arg) c.11906A>G (p.Lys3969Arg) c.11663A>G (p.Lys3888Arg) c.11438A>G (p.Lys3813Arg) c.9437A>G (p.Lys3146Arg) c.8666A>G (p.Lys2889Arg) c.6038A>G (p.Lys2013Arg) c.5087A>G (p.Lys1696Arg) | |
15 | g.28141526T>G | CA391381313 | HERC2 | c.11921A>C (p.Lys3974Thr) c.3632A>C (p.Lys1211Thr) c.11807A>C (p.Lys3936Thr) c.11906A>C (p.Lys3969Thr) c.11663A>C (p.Lys3888Thr) c.11438A>C (p.Lys3813Thr) c.9437A>C (p.Lys3146Thr) c.8666A>C (p.Lys2889Thr) c.6038A>C (p.Lys2013Thr) c.5087A>C (p.Lys1696Thr) | |
15 | g.28141527T>A | CA391381315 | HERC2 | c.11920A>T (p.Lys3974Ter) c.3631A>T (p.Lys1211Ter) c.11806A>T (p.Lys3936Ter) c.11905A>T (p.Lys3969Ter) c.11662A>T (p.Lys3888Ter) c.11437A>T (p.Lys3813Ter) c.9436A>T (p.Lys3146Ter) c.8665A>T (p.Lys2889Ter) c.6037A>T (p.Lys2013Ter) c.5086A>T (p.Lys1696Ter) | |
15 | g.28141527T>C | CA391381316 | HERC2 | c.11920A>G (p.Lys3974Glu) c.3631A>G (p.Lys1211Glu) c.11806A>G (p.Lys3936Glu) c.11905A>G (p.Lys3969Glu) c.11662A>G (p.Lys3888Glu) c.11437A>G (p.Lys3813Glu) c.9436A>G (p.Lys3146Glu) c.8665A>G (p.Lys2889Glu) c.6037A>G (p.Lys2013Glu) c.5086A>G (p.Lys1696Glu) | |
15 | g.28141527T>G | CA391381318 | HERC2 | c.11920A>C (p.Lys3974Gln) c.3631A>C (p.Lys1211Gln) c.11806A>C (p.Lys3936Gln) c.11905A>C (p.Lys3969Gln) c.11662A>C (p.Lys3888Gln) c.11437A>C (p.Lys3813Gln) c.9436A>C (p.Lys3146Gln) c.8665A>C (p.Lys2889Gln) c.6037A>C (p.Lys2013Gln) c.5086A>C (p.Lys1696Gln) | |
15 | g.28141528G>A | CA267946096 | HERC2 | c.11919C>T (p.Val3973=) c.3630C>T (p.Val1210=) c.11805C>T (p.Val3935=) c.11904C>T (p.Val3968=) c.11661C>T (p.Val3887=) c.11436C>T (p.Val3812=) c.9435C>T (p.Val3145=) c.8664C>T (p.Val2888=) c.6036C>T (p.Val2012=) c.5085C>T (p.Val1695=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141528G>C | CA489234745 | HERC2 | c.11919C>G (p.Val3973=) c.3630C>G (p.Val1210=) c.11805C>G (p.Val3935=) c.11904C>G (p.Val3968=) c.11661C>G (p.Val3887=) c.11436C>G (p.Val3812=) c.9435C>G (p.Val3145=) c.8664C>G (p.Val2888=) c.6036C>G (p.Val2012=) c.5085C>G (p.Val1695=) | COSMIC COSMIC |
15 | g.28141528G= | CA2166479885 | HERC2 | c.11919C= (p.Val3973=) c.3630C= (p.Val1210=) c.11805C= (p.Val3935=) c.11904C= (p.Val3968=) c.11661C= (p.Val3887=) c.11436C= (p.Val3812=) c.9435C= (p.Val3145=) c.8664C= (p.Val2888=) c.6036C= (p.Val2012=) c.5085C= (p.Val1695=) | |
15 | g.28141528G>T | CA489234747 | HERC2 | c.11919C>A (p.Val3973=) c.3630C>A (p.Val1210=) c.11805C>A (p.Val3935=) c.11904C>A (p.Val3968=) c.11661C>A (p.Val3887=) c.11436C>A (p.Val3812=) c.9435C>A (p.Val3145=) c.8664C>A (p.Val2888=) c.6036C>A (p.Val2012=) c.5085C>A (p.Val1695=) | COSMIC COSMIC |
15 | g.28141529A>C | CA391381319 | HERC2 | c.11918T>G (p.Val3973Gly) c.3629T>G (p.Val1210Gly) c.11804T>G (p.Val3935Gly) c.11903T>G (p.Val3968Gly) c.11660T>G (p.Val3887Gly) c.11435T>G (p.Val3812Gly) c.9434T>G (p.Val3145Gly) c.8663T>G (p.Val2888Gly) c.6035T>G (p.Val2012Gly) c.5084T>G (p.Val1695Gly) | |
15 | g.28141529A>G | CA391381321 | HERC2 | c.11918T>C (p.Val3973Ala) c.3629T>C (p.Val1210Ala) c.11804T>C (p.Val3935Ala) c.11903T>C (p.Val3968Ala) c.11660T>C (p.Val3887Ala) c.11435T>C (p.Val3812Ala) c.9434T>C (p.Val3145Ala) c.8663T>C (p.Val2888Ala) c.6035T>C (p.Val2012Ala) c.5084T>C (p.Val1695Ala) | |
15 | g.28141529A>T | CA391381322 | HERC2 | c.11918T>A (p.Val3973Asp) c.3629T>A (p.Val1210Asp) c.11804T>A (p.Val3935Asp) c.11903T>A (p.Val3968Asp) c.11660T>A (p.Val3887Asp) c.11435T>A (p.Val3812Asp) c.9434T>A (p.Val3145Asp) c.8663T>A (p.Val2888Asp) c.6035T>A (p.Val2012Asp) c.5084T>A (p.Val1695Asp) | |
15 | g.28141530C>A | CA391381324 | HERC2 | c.11917G>T (p.Val3973Phe) c.3628G>T (p.Val1210Phe) c.11803G>T (p.Val3935Phe) c.11902G>T (p.Val3968Phe) c.11659G>T (p.Val3887Phe) c.11434G>T (p.Val3812Phe) c.9433G>T (p.Val3145Phe) c.8662G>T (p.Val2888Phe) c.6034G>T (p.Val2012Phe) c.5083G>T (p.Val1695Phe) | |
15 | g.28141530C= | CA2166479887 | HERC2 | c.11917G= (p.Val3973=) c.3628G= (p.Val1210=) c.11803G= (p.Val3935=) c.11902G= (p.Val3968=) c.11659G= (p.Val3887=) c.11434G= (p.Val3812=) c.9433G= (p.Val3145=) c.8662G= (p.Val2888=) c.6034G= (p.Val2012=) c.5083G= (p.Val1695=) | |
15 | g.28141530C>G | CA391381325 | HERC2 | c.11917G>C (p.Val3973Leu) c.3628G>C (p.Val1210Leu) c.11803G>C (p.Val3935Leu) c.11902G>C (p.Val3968Leu) c.11659G>C (p.Val3887Leu) c.11434G>C (p.Val3812Leu) c.9433G>C (p.Val3145Leu) c.8662G>C (p.Val2888Leu) c.6034G>C (p.Val2012Leu) c.5083G>C (p.Val1695Leu) | |
15 | g.28141530C>T | CA391381327 | HERC2 | c.11917G>A (p.Val3973Ile) c.3628G>A (p.Val1210Ile) c.11803G>A (p.Val3935Ile) c.11902G>A (p.Val3968Ile) c.11659G>A (p.Val3887Ile) c.11434G>A (p.Val3812Ile) c.9433G>A (p.Val3145Ile) c.8662G>A (p.Val2888Ile) c.6034G>A (p.Val2012Ile) c.5083G>A (p.Val1695Ile) | dbSNP gnomAD v4 |
15 | g.28141531T>A | CA391381331 | HERC2 | c.11916A>T (p.Lys3972Asn) c.3627A>T (p.Lys1209Asn) c.11802A>T (p.Lys3934Asn) c.11901A>T (p.Lys3967Asn) c.11658A>T (p.Lys3886Asn) c.11433A>T (p.Lys3811Asn) c.9432A>T (p.Lys3144Asn) c.8661A>T (p.Lys2887Asn) c.6033A>T (p.Lys2011Asn) c.5082A>T (p.Lys1694Asn) | |
15 | g.28141531T>C | CA489234750 | HERC2 | c.11916A>G (p.Lys3972=) c.3627A>G (p.Lys1209=) c.11802A>G (p.Lys3934=) c.11901A>G (p.Lys3967=) c.11658A>G (p.Lys3886=) c.11433A>G (p.Lys3811=) c.9432A>G (p.Lys3144=) c.8661A>G (p.Lys2887=) c.6033A>G (p.Lys2011=) c.5082A>G (p.Lys1694=) | |
15 | g.28141531T>G | CA391381329 | HERC2 | c.11916A>C (p.Lys3972Asn) c.3627A>C (p.Lys1209Asn) c.11802A>C (p.Lys3934Asn) c.11901A>C (p.Lys3967Asn) c.11658A>C (p.Lys3886Asn) c.11433A>C (p.Lys3811Asn) c.9432A>C (p.Lys3144Asn) c.8661A>C (p.Lys2887Asn) c.6033A>C (p.Lys2011Asn) c.5082A>C (p.Lys1694Asn) | |
15 | g.28141532T>A | CA391381333 | HERC2 | c.11915A>T (p.Lys3972Ile) c.3626A>T (p.Lys1209Ile) c.11801A>T (p.Lys3934Ile) c.11900A>T (p.Lys3967Ile) c.11657A>T (p.Lys3886Ile) c.11432A>T (p.Lys3811Ile) c.9431A>T (p.Lys3144Ile) c.8660A>T (p.Lys2887Ile) c.6032A>T (p.Lys2011Ile) c.5081A>T (p.Lys1694Ile) | dbSNP |
15 | g.28141532T>C | CA391381334 | HERC2 | c.11915A>G (p.Lys3972Arg) c.3626A>G (p.Lys1209Arg) c.11801A>G (p.Lys3934Arg) c.11900A>G (p.Lys3967Arg) c.11657A>G (p.Lys3886Arg) c.11432A>G (p.Lys3811Arg) c.9431A>G (p.Lys3144Arg) c.8660A>G (p.Lys2887Arg) c.6032A>G (p.Lys2011Arg) c.5081A>G (p.Lys1694Arg) | gnomAD v4 |
15 | g.28141532T>G | CA391381335 | HERC2 | c.11915A>C (p.Lys3972Thr) c.3626A>C (p.Lys1209Thr) c.11801A>C (p.Lys3934Thr) c.11900A>C (p.Lys3967Thr) c.11657A>C (p.Lys3886Thr) c.11432A>C (p.Lys3811Thr) c.9431A>C (p.Lys3144Thr) c.8660A>C (p.Lys2887Thr) c.6032A>C (p.Lys2011Thr) c.5081A>C (p.Lys1694Thr) | |
15 | g.28141532T= | CA2166479889 | HERC2 | c.11915A= (p.Lys3972=) c.3626A= (p.Lys1209=) c.11801A= (p.Lys3934=) c.11900A= (p.Lys3967=) c.11657A= (p.Lys3886=) c.11432A= (p.Lys3811=) c.9431A= (p.Lys3144=) c.8660A= (p.Lys2887=) c.6032A= (p.Lys2011=) c.5081A= (p.Lys1694=) | |
15 | g.28141533T>A | CA391381339 | HERC2 | c.11914A>T (p.Lys3972Ter) c.3625A>T (p.Lys1209Ter) c.11800A>T (p.Lys3934Ter) c.11899A>T (p.Lys3967Ter) c.11656A>T (p.Lys3886Ter) c.11431A>T (p.Lys3811Ter) c.9430A>T (p.Lys3144Ter) c.8659A>T (p.Lys2887Ter) c.6031A>T (p.Lys2011Ter) c.5080A>T (p.Lys1694Ter) | |
15 | g.28141533T>C | CA391381340 | HERC2 | c.11914A>G (p.Lys3972Glu) c.3625A>G (p.Lys1209Glu) c.11800A>G (p.Lys3934Glu) c.11899A>G (p.Lys3967Glu) c.11656A>G (p.Lys3886Glu) c.11431A>G (p.Lys3811Glu) c.9430A>G (p.Lys3144Glu) c.8659A>G (p.Lys2887Glu) c.6031A>G (p.Lys2011Glu) c.5080A>G (p.Lys1694Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141533T>G | CA391381342 | HERC2 | c.11914A>C (p.Lys3972Gln) c.3625A>C (p.Lys1209Gln) c.11800A>C (p.Lys3934Gln) c.11899A>C (p.Lys3967Gln) c.11656A>C (p.Lys3886Gln) c.11431A>C (p.Lys3811Gln) c.9430A>C (p.Lys3144Gln) c.8659A>C (p.Lys2887Gln) c.6031A>C (p.Lys2011Gln) c.5080A>C (p.Lys1694Gln) | |
15 | g.28141533T= | CA2166479890 | HERC2 | c.11914A= (p.Lys3972=) c.3625A= (p.Lys1209=) c.11800A= (p.Lys3934=) c.11899A= (p.Lys3967=) c.11656A= (p.Lys3886=) c.11431A= (p.Lys3811=) c.9430A= (p.Lys3144=) c.8659A= (p.Lys2887=) c.6031A= (p.Lys2011=) c.5080A= (p.Lys1694=) | |
15 | g.28141534T>A | CA489234755 | HERC2 | c.11913A>T (p.Ala3971=) c.3624A>T (p.Ala1208=) c.11799A>T (p.Ala3933=) c.11898A>T (p.Ala3966=) c.11655A>T (p.Ala3885=) c.11430A>T (p.Ala3810=) c.9429A>T (p.Ala3143=) c.8658A>T (p.Ala2886=) c.6030A>T (p.Ala2010=) c.5079A>T (p.Ala1693=) | |
15 | g.28141534T>C | CA489234756 | HERC2 | c.11913A>G (p.Ala3971=) c.3624A>G (p.Ala1208=) c.11799A>G (p.Ala3933=) c.11898A>G (p.Ala3966=) c.11655A>G (p.Ala3885=) c.11430A>G (p.Ala3810=) c.9429A>G (p.Ala3143=) c.8658A>G (p.Ala2886=) c.6030A>G (p.Ala2010=) c.5079A>G (p.Ala1693=) | |
15 | g.28141534T>G | CA489234758 | HERC2 | c.11913A>C (p.Ala3971=) c.3624A>C (p.Ala1208=) c.11799A>C (p.Ala3933=) c.11898A>C (p.Ala3966=) c.11655A>C (p.Ala3885=) c.11430A>C (p.Ala3810=) c.9429A>C (p.Ala3143=) c.8658A>C (p.Ala2886=) c.6030A>C (p.Ala2010=) c.5079A>C (p.Ala1693=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141534T= | CA2166479892 | HERC2 | c.11913A= (p.Ala3971=) c.3624A= (p.Ala1208=) c.11799A= (p.Ala3933=) c.11898A= (p.Ala3966=) c.11655A= (p.Ala3885=) c.11430A= (p.Ala3810=) c.9429A= (p.Ala3143=) c.8658A= (p.Ala2886=) c.6030A= (p.Ala2010=) c.5079A= (p.Ala1693=) | |
15 | g.28141535G>A | CA391381344 | HERC2 | c.11912C>T (p.Ala3971Val) c.3623C>T (p.Ala1208Val) c.11798C>T (p.Ala3933Val) c.11897C>T (p.Ala3966Val) c.11654C>T (p.Ala3885Val) c.11429C>T (p.Ala3810Val) c.9428C>T (p.Ala3143Val) c.8657C>T (p.Ala2886Val) c.6029C>T (p.Ala2010Val) c.5078C>T (p.Ala1693Val) | |
15 | g.28141535G>C | CA391381346 | HERC2 | c.11912C>G (p.Ala3971Gly) c.3623C>G (p.Ala1208Gly) c.11798C>G (p.Ala3933Gly) c.11897C>G (p.Ala3966Gly) c.11654C>G (p.Ala3885Gly) c.11429C>G (p.Ala3810Gly) c.9428C>G (p.Ala3143Gly) c.8657C>G (p.Ala2886Gly) c.6029C>G (p.Ala2010Gly) c.5078C>G (p.Ala1693Gly) | gnomAD v4 |
15 | g.28141535G>T | CA391381348 | HERC2 | c.11912C>A (p.Ala3971Glu) c.3623C>A (p.Ala1208Glu) c.11798C>A (p.Ala3933Glu) c.11897C>A (p.Ala3966Glu) c.11654C>A (p.Ala3885Glu) c.11429C>A (p.Ala3810Glu) c.9428C>A (p.Ala3143Glu) c.8657C>A (p.Ala2886Glu) c.6029C>A (p.Ala2010Glu) c.5078C>A (p.Ala1693Glu) | |
15 | g.28141536C>A | CA391381350 | HERC2 | c.11911G>T (p.Ala3971Ser) c.3622G>T (p.Ala1208Ser) c.11797G>T (p.Ala3933Ser) c.11896G>T (p.Ala3966Ser) c.11653G>T (p.Ala3885Ser) c.11428G>T (p.Ala3810Ser) c.9427G>T (p.Ala3143Ser) c.8656G>T (p.Ala2886Ser) c.6028G>T (p.Ala2010Ser) c.5077G>T (p.Ala1693Ser) | gnomAD v4 |
15 | g.28141536C= | CA2166479896 | HERC2 | c.11911G= (p.Ala3971=) c.3622G= (p.Ala1208=) c.11797G= (p.Ala3933=) c.11896G= (p.Ala3966=) c.11653G= (p.Ala3885=) c.11428G= (p.Ala3810=) c.9427G= (p.Ala3143=) c.8656G= (p.Ala2886=) c.6028G= (p.Ala2010=) c.5077G= (p.Ala1693=) | |
15 | g.28141536C>G | CA391381351 | HERC2 | c.11911G>C (p.Ala3971Pro) c.3622G>C (p.Ala1208Pro) c.11797G>C (p.Ala3933Pro) c.11896G>C (p.Ala3966Pro) c.11653G>C (p.Ala3885Pro) c.11428G>C (p.Ala3810Pro) c.9427G>C (p.Ala3143Pro) c.8656G>C (p.Ala2886Pro) c.6028G>C (p.Ala2010Pro) c.5077G>C (p.Ala1693Pro) | |
15 | g.28141536C>T | CA7440433 | HERC2 | c.11911G>A (p.Ala3971Thr) c.3622G>A (p.Ala1208Thr) c.11797G>A (p.Ala3933Thr) c.11896G>A (p.Ala3966Thr) c.11653G>A (p.Ala3885Thr) c.11428G>A (p.Ala3810Thr) c.9427G>A (p.Ala3143Thr) c.8656G>A (p.Ala2886Thr) c.6028G>A (p.Ala2010Thr) c.5077G>A (p.Ala1693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141537G>A | CA267946100 | HERC2 | c.11910C>T (p.Gly3970=) c.3621C>T (p.Gly1207=) c.11796C>T (p.Gly3932=) c.11895C>T (p.Gly3965=) c.11652C>T (p.Gly3884=) c.11427C>T (p.Gly3809=) c.9426C>T (p.Gly3142=) c.8655C>T (p.Gly2885=) c.6027C>T (p.Gly2009=) c.5076C>T (p.Gly1692=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141537G>C | CA489234761 | HERC2 | c.11910C>G (p.Gly3970=) c.3621C>G (p.Gly1207=) c.11796C>G (p.Gly3932=) c.11895C>G (p.Gly3965=) c.11652C>G (p.Gly3884=) c.11427C>G (p.Gly3809=) c.9426C>G (p.Gly3142=) c.8655C>G (p.Gly2885=) c.6027C>G (p.Gly2009=) c.5076C>G (p.Gly1692=) | gnomAD v4 |
15 | g.28141537G= | CA2166479899 | HERC2 | c.11910C= (p.Gly3970=) c.3621C= (p.Gly1207=) c.11796C= (p.Gly3932=) c.11895C= (p.Gly3965=) c.11652C= (p.Gly3884=) c.11427C= (p.Gly3809=) c.9426C= (p.Gly3142=) c.8655C= (p.Gly2885=) c.6027C= (p.Gly2009=) c.5076C= (p.Gly1692=) | |
15 | g.28141537G>T | CA7440434 | HERC2 | c.11910C>A (p.Gly3970=) c.3621C>A (p.Gly1207=) c.11796C>A (p.Gly3932=) c.11895C>A (p.Gly3965=) c.11652C>A (p.Gly3884=) c.11427C>A (p.Gly3809=) c.9426C>A (p.Gly3142=) c.8655C>A (p.Gly2885=) c.6027C>A (p.Gly2009=) c.5076C>A (p.Gly1692=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.28141538C>A | CA391381360 | HERC2 | c.11909G>T (p.Gly3970Val) c.3620G>T (p.Gly1207Val) c.11795G>T (p.Gly3932Val) c.11894G>T (p.Gly3965Val) c.11651G>T (p.Gly3884Val) c.11426G>T (p.Gly3809Val) c.9425G>T (p.Gly3142Val) c.8654G>T (p.Gly2885Val) c.6026G>T (p.Gly2009Val) c.5075G>T (p.Gly1692Val) | |
15 | g.28141538C>G | CA391381362 | HERC2 | c.11909G>C (p.Gly3970Ala) c.3620G>C (p.Gly1207Ala) c.11795G>C (p.Gly3932Ala) c.11894G>C (p.Gly3965Ala) c.11651G>C (p.Gly3884Ala) c.11426G>C (p.Gly3809Ala) c.9425G>C (p.Gly3142Ala) c.8654G>C (p.Gly2885Ala) c.6026G>C (p.Gly2009Ala) c.5075G>C (p.Gly1692Ala) | |
15 | g.28141538C>T | CA391381355 | HERC2 | c.11909G>A (p.Gly3970Asp) c.3620G>A (p.Gly1207Asp) c.11795G>A (p.Gly3932Asp) c.11894G>A (p.Gly3965Asp) c.11651G>A (p.Gly3884Asp) c.11426G>A (p.Gly3809Asp) c.9425G>A (p.Gly3142Asp) c.8654G>A (p.Gly2885Asp) c.6026G>A (p.Gly2009Asp) c.5075G>A (p.Gly1692Asp) | |
15 | g.28141539C>A | CA391381368 | HERC2 | c.11908G>T (p.Gly3970Cys) c.3619G>T (p.Gly1207Cys) c.11794G>T (p.Gly3932Cys) c.11893G>T (p.Gly3965Cys) c.11650G>T (p.Gly3884Cys) c.11425G>T (p.Gly3809Cys) c.9424G>T (p.Gly3142Cys) c.8653G>T (p.Gly2885Cys) c.6025G>T (p.Gly2009Cys) c.5074G>T (p.Gly1692Cys) | |
15 | g.28141539C>G | CA391381365 | HERC2 | c.11908G>C (p.Gly3970Arg) c.3619G>C (p.Gly1207Arg) c.11794G>C (p.Gly3932Arg) c.11893G>C (p.Gly3965Arg) c.11650G>C (p.Gly3884Arg) c.11425G>C (p.Gly3809Arg) c.9424G>C (p.Gly3142Arg) c.8653G>C (p.Gly2885Arg) c.6025G>C (p.Gly2009Arg) c.5074G>C (p.Gly1692Arg) | |
15 | g.28141539C>T | CA391381367 | HERC2 | c.11908G>A (p.Gly3970Ser) c.3619G>A (p.Gly1207Ser) c.11794G>A (p.Gly3932Ser) c.11893G>A (p.Gly3965Ser) c.11650G>A (p.Gly3884Ser) c.11425G>A (p.Gly3809Ser) c.9424G>A (p.Gly3142Ser) c.8653G>A (p.Gly2885Ser) c.6025G>A (p.Gly2009Ser) c.5074G>A (p.Gly1692Ser) | gnomAD v4 |
15 | g.28141540T>A | CA391381371 | HERC2 | c.11907A>T (p.Glu3969Asp) c.3618A>T (p.Glu1206Asp) c.11793A>T (p.Glu3931Asp) c.11892A>T (p.Glu3964Asp) c.11649A>T (p.Glu3883Asp) c.11424A>T (p.Glu3808Asp) c.9423A>T (p.Glu3141Asp) c.8652A>T (p.Glu2884Asp) c.6024A>T (p.Glu2008Asp) c.5073A>T (p.Glu1691Asp) | |
15 | g.28141540T>C | CA489234763 | HERC2 | c.11907A>G (p.Glu3969=) c.3618A>G (p.Glu1206=) c.11793A>G (p.Glu3931=) c.11892A>G (p.Glu3964=) c.11649A>G (p.Glu3883=) c.11424A>G (p.Glu3808=) c.9423A>G (p.Glu3141=) c.8652A>G (p.Glu2884=) c.6024A>G (p.Glu2008=) c.5073A>G (p.Glu1691=) | |
15 | g.28141540T>G | CA391381372 | HERC2 | c.11907A>C (p.Glu3969Asp) c.3618A>C (p.Glu1206Asp) c.11793A>C (p.Glu3931Asp) c.11892A>C (p.Glu3964Asp) c.11649A>C (p.Glu3883Asp) c.11424A>C (p.Glu3808Asp) c.9423A>C (p.Glu3141Asp) c.8652A>C (p.Glu2884Asp) c.6024A>C (p.Glu2008Asp) c.5073A>C (p.Glu1691Asp) | |
15 | g.28141541T>A | CA391381374 | HERC2 | c.11906A>T (p.Glu3969Val) c.3617A>T (p.Glu1206Val) c.11792A>T (p.Glu3931Val) c.11891A>T (p.Glu3964Val) c.11648A>T (p.Glu3883Val) c.11423A>T (p.Glu3808Val) c.9422A>T (p.Glu3141Val) c.8651A>T (p.Glu2884Val) c.6023A>T (p.Glu2008Val) c.5072A>T (p.Glu1691Val) | |
15 | g.28141541T>C | CA391381375 | HERC2 | c.11906A>G (p.Glu3969Gly) c.3617A>G (p.Glu1206Gly) c.11792A>G (p.Glu3931Gly) c.11891A>G (p.Glu3964Gly) c.11648A>G (p.Glu3883Gly) c.11423A>G (p.Glu3808Gly) c.9422A>G (p.Glu3141Gly) c.8651A>G (p.Glu2884Gly) c.6023A>G (p.Glu2008Gly) c.5072A>G (p.Glu1691Gly) | gnomAD v4 |
15 | g.28141541T>G | CA391381377 | HERC2 | c.11906A>C (p.Glu3969Ala) c.3617A>C (p.Glu1206Ala) c.11792A>C (p.Glu3931Ala) c.11891A>C (p.Glu3964Ala) c.11648A>C (p.Glu3883Ala) c.11423A>C (p.Glu3808Ala) c.9422A>C (p.Glu3141Ala) c.8651A>C (p.Glu2884Ala) c.6023A>C (p.Glu2008Ala) c.5072A>C (p.Glu1691Ala) | |
15 | g.28141542C>A | CA391381379 | HERC2 | c.11905G>T (p.Glu3969Ter) c.3616G>T (p.Glu1206Ter) c.11791G>T (p.Glu3931Ter) c.11890G>T (p.Glu3964Ter) c.11647G>T (p.Glu3883Ter) c.11422G>T (p.Glu3808Ter) c.9421G>T (p.Glu3141Ter) c.8650G>T (p.Glu2884Ter) c.6022G>T (p.Glu2008Ter) c.5071G>T (p.Glu1691Ter) | |
15 | g.28141542C>G | CA391381382 | HERC2 | c.11905G>C (p.Glu3969Gln) c.3616G>C (p.Glu1206Gln) c.11791G>C (p.Glu3931Gln) c.11890G>C (p.Glu3964Gln) c.11647G>C (p.Glu3883Gln) c.11422G>C (p.Glu3808Gln) c.9421G>C (p.Glu3141Gln) c.8650G>C (p.Glu2884Gln) c.6022G>C (p.Glu2008Gln) c.5071G>C (p.Glu1691Gln) | |
15 | g.28141542C>T | CA391381380 | HERC2 | c.11905G>A (p.Glu3969Lys) c.3616G>A (p.Glu1206Lys) c.11791G>A (p.Glu3931Lys) c.11890G>A (p.Glu3964Lys) c.11647G>A (p.Glu3883Lys) c.11422G>A (p.Glu3808Lys) c.9421G>A (p.Glu3141Lys) c.8650G>A (p.Glu2884Lys) c.6022G>A (p.Glu2008Lys) c.5071G>A (p.Glu1691Lys) | |
15 | g.28141543A>C | CA391381384 | HERC2 | c.11904T>G (p.Ile3968Met) c.3615T>G (p.Ile1205Met) c.11790T>G (p.Ile3930Met) c.11889T>G (p.Ile3963Met) c.11646T>G (p.Ile3882Met) c.11421T>G (p.Ile3807Met) c.9420T>G (p.Ile3140Met) c.8649T>G (p.Ile2883Met) c.6021T>G (p.Ile2007Met) c.5070T>G (p.Ile1690Met) | |
15 | g.28141543A>G | CA489234765 | HERC2 | c.11904T>C (p.Ile3968=) c.3615T>C (p.Ile1205=) c.11790T>C (p.Ile3930=) c.11889T>C (p.Ile3963=) c.11646T>C (p.Ile3882=) c.11421T>C (p.Ile3807=) c.9420T>C (p.Ile3140=) c.8649T>C (p.Ile2883=) c.6021T>C (p.Ile2007=) c.5070T>C (p.Ile1690=) | gnomAD v4 |
15 | g.28141543A>T | CA489234764 | HERC2 | c.11904T>A (p.Ile3968=) c.3615T>A (p.Ile1205=) c.11790T>A (p.Ile3930=) c.11889T>A (p.Ile3963=) c.11646T>A (p.Ile3882=) c.11421T>A (p.Ile3807=) c.9420T>A (p.Ile3140=) c.8649T>A (p.Ile2883=) c.6021T>A (p.Ile2007=) c.5070T>A (p.Ile1690=) | |
15 | g.28141544A= | CA2166479902 | HERC2 | c.11903T= (p.Ile3968=) c.3614T= (p.Ile1205=) c.11789T= (p.Ile3930=) c.11888T= (p.Ile3963=) c.11645T= (p.Ile3882=) c.11420T= (p.Ile3807=) c.9419T= (p.Ile3140=) c.8648T= (p.Ile2883=) c.6020T= (p.Ile2007=) c.5069T= (p.Ile1690=) | |
15 | g.28141544A>C | CA391381386 | HERC2 | c.11903T>G (p.Ile3968Ser) c.3614T>G (p.Ile1205Ser) c.11789T>G (p.Ile3930Ser) c.11888T>G (p.Ile3963Ser) c.11645T>G (p.Ile3882Ser) c.11420T>G (p.Ile3807Ser) c.9419T>G (p.Ile3140Ser) c.8648T>G (p.Ile2883Ser) c.6020T>G (p.Ile2007Ser) c.5069T>G (p.Ile1690Ser) | |
15 | g.28141544A>G | CA391381388 | HERC2 | c.11903T>C (p.Ile3968Thr) c.3614T>C (p.Ile1205Thr) c.11789T>C (p.Ile3930Thr) c.11888T>C (p.Ile3963Thr) c.11645T>C (p.Ile3882Thr) c.11420T>C (p.Ile3807Thr) c.9419T>C (p.Ile3140Thr) c.8648T>C (p.Ile2883Thr) c.6020T>C (p.Ile2007Thr) c.5069T>C (p.Ile1690Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28141544A>T | CA391381390 | HERC2 | c.11903T>A (p.Ile3968Asn) c.3614T>A (p.Ile1205Asn) c.11789T>A (p.Ile3930Asn) c.11888T>A (p.Ile3963Asn) c.11645T>A (p.Ile3882Asn) c.11420T>A (p.Ile3807Asn) c.9419T>A (p.Ile3140Asn) c.8648T>A (p.Ile2883Asn) c.6020T>A (p.Ile2007Asn) c.5069T>A (p.Ile1690Asn) | |
15 | g.28141545T>A | CA391381392 | HERC2 | c.11902A>T (p.Ile3968Phe) c.3613A>T (p.Ile1205Phe) c.11788A>T (p.Ile3930Phe) c.11887A>T (p.Ile3963Phe) c.11644A>T (p.Ile3882Phe) c.11419A>T (p.Ile3807Phe) c.9418A>T (p.Ile3140Phe) c.8647A>T (p.Ile2883Phe) c.6019A>T (p.Ile2007Phe) c.5068A>T (p.Ile1690Phe) | |
15 | g.28141545T>C | CA391381395 | HERC2 | c.11902A>G (p.Ile3968Val) c.3613A>G (p.Ile1205Val) c.11788A>G (p.Ile3930Val) c.11887A>G (p.Ile3963Val) c.11644A>G (p.Ile3882Val) c.11419A>G (p.Ile3807Val) c.9418A>G (p.Ile3140Val) c.8647A>G (p.Ile2883Val) c.6019A>G (p.Ile2007Val) c.5068A>G (p.Ile1690Val) | gnomAD v4 |
15 | g.28141545T>G | CA391381394 | HERC2 | c.11902A>C (p.Ile3968Leu) c.3613A>C (p.Ile1205Leu) c.11788A>C (p.Ile3930Leu) c.11887A>C (p.Ile3963Leu) c.11644A>C (p.Ile3882Leu) c.11419A>C (p.Ile3807Leu) c.9418A>C (p.Ile3140Leu) c.8647A>C (p.Ile2883Leu) c.6019A>C (p.Ile2007Leu) c.5068A>C (p.Ile1690Leu) | gnomAD v4 |
15 | g.28141546G>A | CA489234766 | HERC2 | c.11901C>T (p.Gly3967=) c.3612C>T (p.Gly1204=) c.11787C>T (p.Gly3929=) c.11886C>T (p.Gly3962=) c.11643C>T (p.Gly3881=) c.11418C>T (p.Gly3806=) c.9417C>T (p.Gly3139=) c.8646C>T (p.Gly2882=) c.6018C>T (p.Gly2006=) c.5067C>T (p.Gly1689=) | |
15 | g.28141546G>C | CA489234767 | HERC2 | c.11901C>G (p.Gly3967=) c.3612C>G (p.Gly1204=) c.11787C>G (p.Gly3929=) c.11886C>G (p.Gly3962=) c.11643C>G (p.Gly3881=) c.11418C>G (p.Gly3806=) c.9417C>G (p.Gly3139=) c.8646C>G (p.Gly2882=) c.6018C>G (p.Gly2006=) c.5067C>G (p.Gly1689=) | |
15 | g.28141546G>T | CA489234768 | HERC2 | c.11901C>A (p.Gly3967=) c.3612C>A (p.Gly1204=) c.11787C>A (p.Gly3929=) c.11886C>A (p.Gly3962=) c.11643C>A (p.Gly3881=) c.11418C>A (p.Gly3806=) c.9417C>A (p.Gly3139=) c.8646C>A (p.Gly2882=) c.6018C>A (p.Gly2006=) c.5067C>A (p.Gly1689=) | |
15 | g.28141547C>A | CA391381397 | HERC2 | c.11900G>T (p.Gly3967Val) c.3611G>T (p.Gly1204Val) c.11786G>T (p.Gly3929Val) c.11885G>T (p.Gly3962Val) c.11642G>T (p.Gly3881Val) c.11417G>T (p.Gly3806Val) c.9416G>T (p.Gly3139Val) c.8645G>T (p.Gly2882Val) c.6017G>T (p.Gly2006Val) c.5066G>T (p.Gly1689Val) | |
15 | g.28141547C= | CA2166479904 | HERC2 | c.11900G= (p.Gly3967=) c.3611G= (p.Gly1204=) c.11786G= (p.Gly3929=) c.11885G= (p.Gly3962=) c.11642G= (p.Gly3881=) c.11417G= (p.Gly3806=) c.9416G= (p.Gly3139=) c.8645G= (p.Gly2882=) c.6017G= (p.Gly2006=) c.5066G= (p.Gly1689=) | |
15 | g.28141547C>G | CA391381399 | HERC2 | c.11900G>C (p.Gly3967Ala) c.3611G>C (p.Gly1204Ala) c.11786G>C (p.Gly3929Ala) c.11885G>C (p.Gly3962Ala) c.11642G>C (p.Gly3881Ala) c.11417G>C (p.Gly3806Ala) c.9416G>C (p.Gly3139Ala) c.8645G>C (p.Gly2882Ala) c.6017G>C (p.Gly2006Ala) c.5066G>C (p.Gly1689Ala) | |
15 | g.28141547C>T | CA391381400 | HERC2 | c.11900G>A (p.Gly3967Asp) c.3611G>A (p.Gly1204Asp) c.11786G>A (p.Gly3929Asp) c.11885G>A (p.Gly3962Asp) c.11642G>A (p.Gly3881Asp) c.11417G>A (p.Gly3806Asp) c.9416G>A (p.Gly3139Asp) c.8645G>A (p.Gly2882Asp) c.6017G>A (p.Gly2006Asp) c.5066G>A (p.Gly1689Asp) | dbSNP gnomAD v4 |
15 | g.28141551del | CA2575653880 | HERC2 | c.11900del (p.Gly3967AlafsTer24) c.3611del (p.Gly1204AlafsTer24) c.11786del (p.Gly3929AlafsTer24) c.11885del (p.Gly3962AlafsTer24) c.11642del (p.Gly3881AlafsTer24) c.11417del (p.Gly3806AlafsTer24) c.9416del (p.Gly3139AlafsTer24) c.8645del (p.Gly2882AlafsTer24) c.6017del (p.Gly2006AlafsTer24) c.5066del (p.Gly1689AlafsTer24) | |
15 | g.28141548C>A | CA391381401 | HERC2 | c.11899G>T (p.Gly3967Cys) c.3610G>T (p.Gly1204Cys) c.11785G>T (p.Gly3929Cys) c.11884G>T (p.Gly3962Cys) c.11641G>T (p.Gly3881Cys) c.11416G>T (p.Gly3806Cys) c.9415G>T (p.Gly3139Cys) c.8644G>T (p.Gly2882Cys) c.6016G>T (p.Gly2006Cys) c.5065G>T (p.Gly1689Cys) | |
15 | g.28141548C>G | CA391381402 | HERC2 | c.11899G>C (p.Gly3967Arg) c.3610G>C (p.Gly1204Arg) c.11785G>C (p.Gly3929Arg) c.11884G>C (p.Gly3962Arg) c.11641G>C (p.Gly3881Arg) c.11416G>C (p.Gly3806Arg) c.9415G>C (p.Gly3139Arg) c.8644G>C (p.Gly2882Arg) c.6016G>C (p.Gly2006Arg) c.5065G>C (p.Gly1689Arg) | COSMIC COSMIC |
15 | g.28141548C>T | CA391381404 | HERC2 | c.11899G>A (p.Gly3967Ser) c.3610G>A (p.Gly1204Ser) c.11785G>A (p.Gly3929Ser) c.11884G>A (p.Gly3962Ser) c.11641G>A (p.Gly3881Ser) c.11416G>A (p.Gly3806Ser) c.9415G>A (p.Gly3139Ser) c.8644G>A (p.Gly2882Ser) c.6016G>A (p.Gly2006Ser) c.5065G>A (p.Gly1689Ser) | |
15 | g.28141549C>A | CA489234769 | HERC2 | c.11898G>T (p.Gly3966=) c.3609G>T (p.Gly1203=) c.11784G>T (p.Gly3928=) c.11883G>T (p.Gly3961=) c.11640G>T (p.Gly3880=) c.11415G>T (p.Gly3805=) c.9414G>T (p.Gly3138=) c.8643G>T (p.Gly2881=) c.6015G>T (p.Gly2005=) c.5064G>T (p.Gly1688=) | |
15 | g.28141549C= | CA2166479906 | HERC2 | c.11898G= (p.Gly3966=) c.3609G= (p.Gly1203=) c.11784G= (p.Gly3928=) c.11883G= (p.Gly3961=) c.11640G= (p.Gly3880=) c.11415G= (p.Gly3805=) c.9414G= (p.Gly3138=) c.8643G= (p.Gly2881=) c.6015G= (p.Gly2005=) c.5064G= (p.Gly1688=) | |
15 | g.28141549C>G | CA489234770 | HERC2 | c.11898G>C (p.Gly3966=) c.3609G>C (p.Gly1203=) c.11784G>C (p.Gly3928=) c.11883G>C (p.Gly3961=) c.11640G>C (p.Gly3880=) c.11415G>C (p.Gly3805=) c.9414G>C (p.Gly3138=) c.8643G>C (p.Gly2881=) c.6015G>C (p.Gly2005=) c.5064G>C (p.Gly1688=) | |
15 | g.28141549C>T | CA489234771 | HERC2 | c.11898G>A (p.Gly3966=) c.3609G>A (p.Gly1203=) c.11784G>A (p.Gly3928=) c.11883G>A (p.Gly3961=) c.11640G>A (p.Gly3880=) c.11415G>A (p.Gly3805=) c.9414G>A (p.Gly3138=) c.8643G>A (p.Gly2881=) c.6015G>A (p.Gly2005=) c.5064G>A (p.Gly1688=) | dbSNP gnomAD v4 |
15 | g.28141550C>A | CA391381406 | HERC2 | c.11897G>T (p.Gly3966Val) c.3608G>T (p.Gly1203Val) c.11783G>T (p.Gly3928Val) c.11882G>T (p.Gly3961Val) c.11639G>T (p.Gly3880Val) c.11414G>T (p.Gly3805Val) c.9413G>T (p.Gly3138Val) c.8642G>T (p.Gly2881Val) c.6014G>T (p.Gly2005Val) c.5063G>T (p.Gly1688Val) | |
15 | g.28141550C>G | CA391381408 | HERC2 | c.11897G>C (p.Gly3966Ala) c.3608G>C (p.Gly1203Ala) c.11783G>C (p.Gly3928Ala) c.11882G>C (p.Gly3961Ala) c.11639G>C (p.Gly3880Ala) c.11414G>C (p.Gly3805Ala) c.9413G>C (p.Gly3138Ala) c.8642G>C (p.Gly2881Ala) c.6014G>C (p.Gly2005Ala) c.5063G>C (p.Gly1688Ala) | |
15 | g.28141550C>T | CA391381410 | HERC2 | c.11897G>A (p.Gly3966Glu) c.3608G>A (p.Gly1203Glu) c.11783G>A (p.Gly3928Glu) c.11882G>A (p.Gly3961Glu) c.11639G>A (p.Gly3880Glu) c.11414G>A (p.Gly3805Glu) c.9413G>A (p.Gly3138Glu) c.8642G>A (p.Gly2881Glu) c.6014G>A (p.Gly2005Glu) c.5063G>A (p.Gly1688Glu) | |
15 | g.28141551C>A | CA391381412 | HERC2 | c.11896G>T (p.Gly3966Trp) c.3607G>T (p.Gly1203Trp) c.11782G>T (p.Gly3928Trp) c.11881G>T (p.Gly3961Trp) c.11638G>T (p.Gly3880Trp) c.11413G>T (p.Gly3805Trp) c.9412G>T (p.Gly3138Trp) c.8641G>T (p.Gly2881Trp) c.6013G>T (p.Gly2005Trp) c.5062G>T (p.Gly1688Trp) | |
15 | g.28141551C= | CA2166479909 | HERC2 | c.11896G= (p.Gly3966=) c.3607G= (p.Gly1203=) c.11782G= (p.Gly3928=) c.11881G= (p.Gly3961=) c.11638G= (p.Gly3880=) c.11413G= (p.Gly3805=) c.9412G= (p.Gly3138=) c.8641G= (p.Gly2881=) c.6013G= (p.Gly2005=) c.5062G= (p.Gly1688=) | |
15 | g.28141551C>G | CA391381413 | HERC2 | c.11896G>C (p.Gly3966Arg) c.3607G>C (p.Gly1203Arg) c.11782G>C (p.Gly3928Arg) c.11881G>C (p.Gly3961Arg) c.11638G>C (p.Gly3880Arg) c.11413G>C (p.Gly3805Arg) c.9412G>C (p.Gly3138Arg) c.8641G>C (p.Gly2881Arg) c.6013G>C (p.Gly2005Arg) c.5062G>C (p.Gly1688Arg) | |
15 | g.28141551C>T | CA391381415 | HERC2 | c.11896G>A (p.Gly3966Arg) c.3607G>A (p.Gly1203Arg) c.11782G>A (p.Gly3928Arg) c.11881G>A (p.Gly3961Arg) c.11638G>A (p.Gly3880Arg) c.11413G>A (p.Gly3805Arg) c.9412G>A (p.Gly3138Arg) c.8641G>A (p.Gly2881Arg) c.6013G>A (p.Gly2005Arg) c.5062G>A (p.Gly1688Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.28141552G>A | CA7440435 | HERC2 | c.11895C>T (p.Leu3965=) c.3606C>T (p.Leu1202=) c.11781C>T (p.Leu3927=) c.11880C>T (p.Leu3960=) c.11637C>T (p.Leu3879=) c.11412C>T (p.Leu3804=) c.9411C>T (p.Leu3137=) c.8640C>T (p.Leu2880=) c.6012C>T (p.Leu2004=) c.5061C>T (p.Leu1687=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28141552G>C | CA489234772 | HERC2 | c.11895C>G (p.Leu3965=) c.3606C>G (p.Leu1202=) c.11781C>G (p.Leu3927=) c.11880C>G (p.Leu3960=) c.11637C>G (p.Leu3879=) c.11412C>G (p.Leu3804=) c.9411C>G (p.Leu3137=) c.8640C>G (p.Leu2880=) c.6012C>G (p.Leu2004=) c.5061C>G (p.Leu1687=) | |
15 | g.28141552G= | CA2166479911 | HERC2 | c.11895C= (p.Leu3965=) c.3606C= (p.Leu1202=) c.11781C= (p.Leu3927=) c.11880C= (p.Leu3960=) c.11637C= (p.Leu3879=) c.11412C= (p.Leu3804=) c.9411C= (p.Leu3137=) c.8640C= (p.Leu2880=) c.6012C= (p.Leu2004=) c.5061C= (p.Leu1687=) | |
15 | g.28141552G>T | CA489234773 | HERC2 | c.11895C>A (p.Leu3965=) c.3606C>A (p.Leu1202=) c.11781C>A (p.Leu3927=) c.11880C>A (p.Leu3960=) c.11637C>A (p.Leu3879=) c.11412C>A (p.Leu3804=) c.9411C>A (p.Leu3137=) c.8640C>A (p.Leu2880=) c.6012C>A (p.Leu2004=) c.5061C>A (p.Leu1687=) | |
15 | g.28141553A>C | CA391381421 | HERC2 | c.11894T>G (p.Leu3965Arg) c.3605T>G (p.Leu1202Arg) c.11780T>G (p.Leu3927Arg) c.11879T>G (p.Leu3960Arg) c.11636T>G (p.Leu3879Arg) c.11411T>G (p.Leu3804Arg) c.9410T>G (p.Leu3137Arg) c.8639T>G (p.Leu2880Arg) c.6011T>G (p.Leu2004Arg) c.5060T>G (p.Leu1687Arg) | |
15 | g.28141553A>G | CA391381418 | HERC2 | c.11894T>C (p.Leu3965Pro) c.3605T>C (p.Leu1202Pro) c.11780T>C (p.Leu3927Pro) c.11879T>C (p.Leu3960Pro) c.11636T>C (p.Leu3879Pro) c.11411T>C (p.Leu3804Pro) c.9410T>C (p.Leu3137Pro) c.8639T>C (p.Leu2880Pro) c.6011T>C (p.Leu2004Pro) c.5060T>C (p.Leu1687Pro) | |
15 | g.28141553A>T | CA391381419 | HERC2 | c.11894T>A (p.Leu3965His) c.3605T>A (p.Leu1202His) c.11780T>A (p.Leu3927His) c.11879T>A (p.Leu3960His) c.11636T>A (p.Leu3879His) c.11411T>A (p.Leu3804His) c.9410T>A (p.Leu3137His) c.8639T>A (p.Leu2880His) c.6011T>A (p.Leu2004His) c.5060T>A (p.Leu1687His) | |
15 | g.28141554G>A | CA391381423 | HERC2 | c.11893C>T (p.Leu3965Phe) c.3604C>T (p.Leu1202Phe) c.11779C>T (p.Leu3927Phe) c.11878C>T (p.Leu3960Phe) c.11635C>T (p.Leu3879Phe) c.11410C>T (p.Leu3804Phe) c.9409C>T (p.Leu3137Phe) c.8638C>T (p.Leu2880Phe) c.6010C>T (p.Leu2004Phe) c.5059C>T (p.Leu1687Phe) | gnomAD v4 |
15 | g.28141554G>C | CA391381425 | HERC2 | c.11893C>G (p.Leu3965Val) c.3604C>G (p.Leu1202Val) c.11779C>G (p.Leu3927Val) c.11878C>G (p.Leu3960Val) c.11635C>G (p.Leu3879Val) c.11410C>G (p.Leu3804Val) c.9409C>G (p.Leu3137Val) c.8638C>G (p.Leu2880Val) c.6010C>G (p.Leu2004Val) c.5059C>G (p.Leu1687Val) | |
15 | g.28141554G>T | CA391381426 | HERC2 | c.11893C>A (p.Leu3965Ile) c.3604C>A (p.Leu1202Ile) c.11779C>A (p.Leu3927Ile) c.11878C>A (p.Leu3960Ile) c.11635C>A (p.Leu3879Ile) c.11410C>A (p.Leu3804Ile) c.9409C>A (p.Leu3137Ile) c.8638C>A (p.Leu2880Ile) c.6010C>A (p.Leu2004Ile) c.5059C>A (p.Leu1687Ile) | |
15 | g.28141555C>A | CA391381428 | HERC2 | c.11892G>T (p.Gln3964His) c.3603G>T (p.Gln1201His) c.11778G>T (p.Gln3926His) c.11877G>T (p.Gln3959His) c.11634G>T (p.Gln3878His) c.11409G>T (p.Gln3803His) c.9408G>T (p.Gln3136His) c.8637G>T (p.Gln2879His) c.6009G>T (p.Gln2003His) c.5058G>T (p.Gln1686His) | gnomAD v4 |
15 | g.28141555C>G | CA391381429 | HERC2 | c.11892G>C (p.Gln3964His) c.3603G>C (p.Gln1201His) c.11778G>C (p.Gln3926His) c.11877G>C (p.Gln3959His) c.11634G>C (p.Gln3878His) c.11409G>C (p.Gln3803His) c.9408G>C (p.Gln3136His) c.8637G>C (p.Gln2879His) c.6009G>C (p.Gln2003His) c.5058G>C (p.Gln1686His) | |
15 | g.28141555C>T | CA489234774 | HERC2 | c.11892G>A (p.Gln3964=) c.3603G>A (p.Gln1201=) c.11778G>A (p.Gln3926=) c.11877G>A (p.Gln3959=) c.11634G>A (p.Gln3878=) c.11409G>A (p.Gln3803=) c.9408G>A (p.Gln3136=) c.8637G>A (p.Gln2879=) c.6009G>A (p.Gln2003=) c.5058G>A (p.Gln1686=) | |
15 | g.28141556T>A | CA267946113 | HERC2 | c.11891A>T (p.Gln3964Leu) c.3602A>T (p.Gln1201Leu) c.11777A>T (p.Gln3926Leu) c.11876A>T (p.Gln3959Leu) c.11633A>T (p.Gln3878Leu) c.11408A>T (p.Gln3803Leu) c.9407A>T (p.Gln3136Leu) c.8636A>T (p.Gln2879Leu) c.6008A>T (p.Gln2003Leu) c.5057A>T (p.Gln1686Leu) | dbSNP |
15 | g.28141556T>C | CA391381432 | HERC2 | c.11891A>G (p.Gln3964Arg) c.3602A>G (p.Gln1201Arg) c.11777A>G (p.Gln3926Arg) c.11876A>G (p.Gln3959Arg) c.11633A>G (p.Gln3878Arg) c.11408A>G (p.Gln3803Arg) c.9407A>G (p.Gln3136Arg) c.8636A>G (p.Gln2879Arg) c.6008A>G (p.Gln2003Arg) c.5057A>G (p.Gln1686Arg) | |
15 | g.28141556T>G | CA391381433 | HERC2 | c.11891A>C (p.Gln3964Pro) c.3602A>C (p.Gln1201Pro) c.11777A>C (p.Gln3926Pro) c.11876A>C (p.Gln3959Pro) c.11633A>C (p.Gln3878Pro) c.11408A>C (p.Gln3803Pro) c.9407A>C (p.Gln3136Pro) c.8636A>C (p.Gln2879Pro) c.6008A>C (p.Gln2003Pro) c.5057A>C (p.Gln1686Pro) | |
15 | g.28141556T= | CA2166479915 | HERC2 | c.11891A= (p.Gln3964=) c.3602A= (p.Gln1201=) c.11777A= (p.Gln3926=) c.11876A= (p.Gln3959=) c.11633A= (p.Gln3878=) c.11408A= (p.Gln3803=) c.9407A= (p.Gln3136=) c.8636A= (p.Gln2879=) c.6008A= (p.Gln2003=) c.5057A= (p.Gln1686=) | |
15 | g.28141557G>A | CA391381435 | HERC2 | c.11890C>T (p.Gln3964Ter) c.3601C>T (p.Gln1201Ter) c.11776C>T (p.Gln3926Ter) c.11875C>T (p.Gln3959Ter) c.11632C>T (p.Gln3878Ter) c.11407C>T (p.Gln3803Ter) c.9406C>T (p.Gln3136Ter) c.8635C>T (p.Gln2879Ter) c.6007C>T (p.Gln2003Ter) c.5056C>T (p.Gln1686Ter) | |
15 | g.28141557G>C | CA391381436 | HERC2 | c.11890C>G (p.Gln3964Glu) c.3601C>G (p.Gln1201Glu) c.11776C>G (p.Gln3926Glu) c.11875C>G (p.Gln3959Glu) c.11632C>G (p.Gln3878Glu) c.11407C>G (p.Gln3803Glu) c.9406C>G (p.Gln3136Glu) c.8635C>G (p.Gln2879Glu) c.6007C>G (p.Gln2003Glu) c.5056C>G (p.Gln1686Glu) | |
15 | g.28141557G>T | CA391381437 | HERC2 | c.11890C>A (p.Gln3964Lys) c.3601C>A (p.Gln1201Lys) c.11776C>A (p.Gln3926Lys) c.11875C>A (p.Gln3959Lys) c.11632C>A (p.Gln3878Lys) c.11407C>A (p.Gln3803Lys) c.9406C>A (p.Gln3136Lys) c.8635C>A (p.Gln2879Lys) c.6007C>A (p.Gln2003Lys) c.5056C>A (p.Gln1686Lys) | |
15 | g.28141558G>A | CA489234776 | HERC2 | c.11889C>T (p.Gly3963=) c.3600C>T (p.Gly1200=) c.11775C>T (p.Gly3925=) c.11874C>T (p.Gly3958=) c.11631C>T (p.Gly3877=) c.11406C>T (p.Gly3802=) c.9405C>T (p.Gly3135=) c.8634C>T (p.Gly2878=) c.6006C>T (p.Gly2002=) c.5055C>T (p.Gly1685=) | |
15 | g.28141558G>C | CA489234775 | HERC2 | c.11889C>G (p.Gly3963=) c.3600C>G (p.Gly1200=) c.11775C>G (p.Gly3925=) c.11874C>G (p.Gly3958=) c.11631C>G (p.Gly3877=) c.11406C>G (p.Gly3802=) c.9405C>G (p.Gly3135=) c.8634C>G (p.Gly2878=) c.6006C>G (p.Gly2002=) c.5055C>G (p.Gly1685=) | |
15 | g.28141558G>T | CA489234777 | HERC2 | c.11889C>A (p.Gly3963=) c.3600C>A (p.Gly1200=) c.11775C>A (p.Gly3925=) c.11874C>A (p.Gly3958=) c.11631C>A (p.Gly3877=) c.11406C>A (p.Gly3802=) c.9405C>A (p.Gly3135=) c.8634C>A (p.Gly2878=) c.6006C>A (p.Gly2002=) c.5055C>A (p.Gly1685=) | |
15 | g.28141559C>A | CA391381440 | HERC2 | c.11888G>T (p.Gly3963Val) c.3599G>T (p.Gly1200Val) c.11774G>T (p.Gly3925Val) c.11873G>T (p.Gly3958Val) c.11630G>T (p.Gly3877Val) c.11405G>T (p.Gly3802Val) c.9404G>T (p.Gly3135Val) c.8633G>T (p.Gly2878Val) c.6005G>T (p.Gly2002Val) c.5054G>T (p.Gly1685Val) | |
15 | g.28141559C>G | CA391381441 | HERC2 | c.11888G>C (p.Gly3963Ala) c.3599G>C (p.Gly1200Ala) c.11774G>C (p.Gly3925Ala) c.11873G>C (p.Gly3958Ala) c.11630G>C (p.Gly3877Ala) c.11405G>C (p.Gly3802Ala) c.9404G>C (p.Gly3135Ala) c.8633G>C (p.Gly2878Ala) c.6005G>C (p.Gly2002Ala) c.5054G>C (p.Gly1685Ala) | |
15 | g.28141559C>T | CA391381438 | HERC2 | c.11888G>A (p.Gly3963Asp) c.3599G>A (p.Gly1200Asp) c.11774G>A (p.Gly3925Asp) c.11873G>A (p.Gly3958Asp) c.11630G>A (p.Gly3877Asp) c.11405G>A (p.Gly3802Asp) c.9404G>A (p.Gly3135Asp) c.8633G>A (p.Gly2878Asp) c.6005G>A (p.Gly2002Asp) c.5054G>A (p.Gly1685Asp) | |
15 | g.28141560C>A | CA391381443 | HERC2 | c.11887G>T (p.Gly3963Cys) c.3598G>T (p.Gly1200Cys) c.11773G>T (p.Gly3925Cys) c.11872G>T (p.Gly3958Cys) c.11629G>T (p.Gly3877Cys) c.11404G>T (p.Gly3802Cys) c.9403G>T (p.Gly3135Cys) c.8632G>T (p.Gly2878Cys) c.6004G>T (p.Gly2002Cys) c.5053G>T (p.Gly1685Cys) | gnomAD v4 |
15 | g.28141560C>G | CA391381445 | HERC2 | c.11887G>C (p.Gly3963Arg) c.3598G>C (p.Gly1200Arg) c.11773G>C (p.Gly3925Arg) c.11872G>C (p.Gly3958Arg) c.11629G>C (p.Gly3877Arg) c.11404G>C (p.Gly3802Arg) c.9403G>C (p.Gly3135Arg) c.8632G>C (p.Gly2878Arg) c.6004G>C (p.Gly2002Arg) c.5053G>C (p.Gly1685Arg) | |
15 | g.28141560C>T | CA391381446 | HERC2 | c.11887G>A (p.Gly3963Ser) c.3598G>A (p.Gly1200Ser) c.11773G>A (p.Gly3925Ser) c.11872G>A (p.Gly3958Ser) c.11629G>A (p.Gly3877Ser) c.11404G>A (p.Gly3802Ser) c.9403G>A (p.Gly3135Ser) c.8632G>A (p.Gly2878Ser) c.6004G>A (p.Gly2002Ser) c.5053G>A (p.Gly1685Ser) |