Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765314_765337delinsAGGGCGGGCAAGAGGCCGCTGAGT | CA2345350090 | SLC52A3 | c.438_461delinsACTCAGCGGCCTCTTGCCCGCCCT (p.Gly146=) n.489_512delinsACTCAGCGGCCTCTTGCCCGCCCT | |
20 | g.765315_765337del | CA9724773 | SLC52A3 | c.438_460del (p.Leu147GlyfsTer17) n.489_511del | dbSNP ExAC |
20 | g.765326A>C | CA407963810 | SLC52A3 | c.449T>G (p.Leu150Arg) n.500T>G | |
20 | g.765326A>G | CA407963811 | SLC52A3 | c.449T>C (p.Leu150Pro) n.500T>C | |
20 | g.765326A>T | CA407963812 | SLC52A3 | c.449T>A (p.Leu150His) n.500T>A | |
20 | g.765327G>A | CA9724777 | SLC52A3 | c.448C>T (p.Leu150Phe) n.499C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765327G>C | CA407963813 | SLC52A3 | c.448C>G (p.Leu150Val) n.499C>G | |
20 | g.765327G= | CA2345350097 | SLC52A3 | c.448C= (p.Leu150=) n.499C= | |
20 | g.765327G>T | CA407963814 | SLC52A3 | c.448C>A (p.Leu150Ile) n.499C>A | |
20 | g.765328G>A | CA509542730 | SLC52A3 | c.447C>T (p.Gly149=) n.498C>T | gnomAD v4 |
20 | g.765328G>C | CA509542732 | SLC52A3 | c.447C>G (p.Gly149=) n.498C>G | |
20 | g.765328G= | CA2345350098 | SLC52A3 | c.447C= (p.Gly149=) n.498C= | |
20 | g.765328G>T | CA9724778 | SLC52A3 | c.447C>A (p.Gly149=) n.498C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765329C>A | CA9724779 | SLC52A3 | c.446G>T (p.Gly149Val) n.497G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765329C= | CA2345350099 | SLC52A3 | c.446G= (p.Gly149=) n.497G= | |
20 | g.765329C>G | CA407963815 | SLC52A3 | c.446G>C (p.Gly149Ala) n.497G>C | |
20 | g.765329C>T | CA407963816 | SLC52A3 | c.446G>A (p.Gly149Asp) n.497G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.765330C>A | CA407963817 | SLC52A3 | c.445G>T (p.Gly149Cys) n.496G>T | |
20 | g.765330C= | CA2345350100 | SLC52A3 | c.445G= (p.Gly149=) n.496G= | |
20 | g.765330C>G | CA407963818 | SLC52A3 | c.445G>C (p.Gly149Arg) n.496G>C | |
20 | g.765330C>T | CA407963819 | SLC52A3 | c.445G>A (p.Gly149Ser) n.496G>A | ClinVar dbSNP |
20 | g.765331G>A | CA9724780 | SLC52A3 | c.444C>T (p.Ser148=) n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765331G>C | CA407963821 | SLC52A3 | c.444C>G (p.Ser148Arg) n.495C>G | |
20 | g.765331G= | CA2345350101 | SLC52A3 | c.444C= (p.Ser148=) n.495C= | |
20 | g.765331G>T | CA407963820 | SLC52A3 | c.444C>A (p.Ser148Arg) n.495C>A | |
20 | g.765332C>A | CA407963822 | SLC52A3 | c.443G>T (p.Ser148Ile) n.494G>T | |
20 | g.765332C= | CA2345350102 | SLC52A3 | c.443G= (p.Ser148=) n.494G= | |
20 | g.765332C>G | CA407963823 | SLC52A3 | c.443G>C (p.Ser148Thr) n.494G>C | |
20 | g.765332C>T | CA407963824 | SLC52A3 | c.443G>A (p.Ser148Asn) n.494G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765333T>A | CA407963825 | SLC52A3 | c.442A>T (p.Ser148Cys) n.493A>T | |
20 | g.765333T>C | CA407963826 | SLC52A3 | c.442A>G (p.Ser148Gly) n.493A>G | |
20 | g.765333T>G | CA407963827 | SLC52A3 | c.442A>C (p.Ser148Arg) n.493A>C | |
20 | g.765334G>A | CA509542737 | SLC52A3 | c.441C>T (p.Leu147=) n.492C>T | |
20 | g.765334G>C | CA509542738 | SLC52A3 | c.441C>G (p.Leu147=) n.492C>G | |
20 | g.765334G= | CA2345350103 | SLC52A3 | c.441C= (p.Leu147=) n.492C= | |
20 | g.765334G>T | CA9724781 | SLC52A3 | c.441C>A (p.Leu147=) n.492C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765335A>C | CA407963828 | SLC52A3 | c.440T>G (p.Leu147Arg) n.491T>G | |
20 | g.765335A>G | CA407963829 | SLC52A3 | c.440T>C (p.Leu147Pro) n.491T>C | |
20 | g.765335A>T | CA407963830 | SLC52A3 | c.440T>A (p.Leu147His) n.491T>A | |
20 | g.765336G>A | CA407963831 | SLC52A3 | c.439C>T (p.Leu147Phe) n.490C>T | |
20 | g.765336G>C | CA407963832 | SLC52A3 | c.439C>G (p.Leu147Val) n.490C>G | |
20 | g.765336G= | CA2345350104 | SLC52A3 | c.439C= (p.Leu147=) n.490C= | |
20 | g.765336G>T | CA9724782 | SLC52A3 | c.439C>A (p.Leu147Ile) n.490C>A | dbSNP ExAC |
20 | g.765337T>A | CA509542742 | SLC52A3 | c.438A>T (p.Gly146=) n.489A>T | |
20 | g.765337T>C | CA9724783 | SLC52A3 | c.438A>G (p.Gly146=) n.489A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765337T>G | CA509542744 | SLC52A3 | c.438A>C (p.Gly146=) n.489A>C | |
20 | g.765337T= | CA2345350105 | SLC52A3 | c.438A= (p.Gly146=) n.489A= | |
20 | g.765338C>A | CA407963834 | SLC52A3 | c.437G>T (p.Gly146Val) n.488G>T | |
20 | g.765338C>G | CA407963835 | SLC52A3 | c.437G>C (p.Gly146Ala) n.488G>C | |
20 | g.765338C>T | CA407963833 | SLC52A3 | c.437G>A (p.Gly146Glu) n.488G>A | |
20 | g.765339C>A | CA407963836 | SLC52A3 | c.436G>T (p.Gly146Ter) n.487G>T | |
20 | g.765339C= | CA2345350106 | SLC52A3 | c.436G= (p.Gly146=) n.487G= | |
20 | g.765339C>G | CA407963837 | SLC52A3 | c.436G>C (p.Gly146Arg) n.487G>C | |
20 | g.765339C>T | CA407963838 | SLC52A3 | c.436G>A (p.Gly146Arg) n.487G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.765340T>A | CA407963839 | SLC52A3 | c.435A>T (p.Glu145Asp) n.486A>T | |
20 | g.765340T>C | CA509542746 | SLC52A3 | c.435A>G (p.Glu145=) n.486A>G | |
20 | g.765340T>G | CA407963840 | SLC52A3 | c.435A>C (p.Glu145Asp) n.486A>C | |
20 | g.765341T>A | CA407963841 | SLC52A3 | c.434A>T (p.Glu145Val) n.485A>T | |
20 | g.765341T>C | CA407963842 | SLC52A3 | c.434A>G (p.Glu145Gly) n.485A>G | |
20 | g.765341T>G | CA407963843 | SLC52A3 | c.434A>C (p.Glu145Ala) n.485A>C | |
20 | g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG | CA2345350107 | SLC52A3 | c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA (p.Ser131=) n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA | |
20 | g.765342C>A | CA407963844 | SLC52A3 | c.433G>T (p.Glu145Ter) n.484G>T | |
20 | g.765342C>G | CA407963845 | SLC52A3 | c.433G>C (p.Glu145Gln) n.484G>C | COSMIC COSMIC |
20 | g.765342C>T | CA407963846 | SLC52A3 | c.433G>A (p.Glu145Lys) n.484G>A | |
20 | g.765343_765383del | CA9724784 | SLC52A3 | c.393_433del (p.Ser131ArgfsTer27) n.444_484del | dbSNP ExAC |
20 | g.765343A= | CA2345350108 | SLC52A3 | c.432T= (p.Gly144=) n.483T= | |
20 | g.765343A>C | CA509542750 | SLC52A3 | c.432T>G (p.Gly144=) n.483T>G | |
20 | g.765343A>G | CA509542752 | SLC52A3 | c.432T>C (p.Gly144=) n.483T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.765343A>T | CA509542754 | SLC52A3 | c.432T>A (p.Gly144=) n.483T>A | |
20 | g.765344C>A | CA407963849 | SLC52A3 | c.431G>T (p.Gly144Val) n.482G>T | |
20 | g.765344C>G | CA407963847 | SLC52A3 | c.431G>C (p.Gly144Ala) n.482G>C | |
20 | g.765344C>T | CA407963848 | SLC52A3 | c.431G>A (p.Gly144Asp) n.482G>A | gnomAD v4 |
20 | g.765345C>A | CA407963850 | SLC52A3 | c.430G>T (p.Gly144Cys) n.481G>T | |
20 | g.765345C= | CA2345350109 | SLC52A3 | c.430G= (p.Gly144=) n.481G= | |
20 | g.765345C>G | CA407963851 | SLC52A3 | c.430G>C (p.Gly144Arg) n.481G>C | |
20 | g.765345C>T | CA310679104 | SLC52A3 | c.430G>A (p.Gly144Ser) n.481G>A | dbSNP |
20 | g.765346C>A | CA509542755 | SLC52A3 | c.429G>T (p.Val143=) n.480G>T | |
20 | g.765346C>G | CA509542757 | SLC52A3 | c.429G>C (p.Val143=) n.480G>C | |
20 | g.765346C>T | CA509542758 | SLC52A3 | c.429G>A (p.Val143=) n.480G>A | |
20 | g.765347A>C | CA407963852 | SLC52A3 | c.428T>G (p.Val143Gly) n.479T>G | |
20 | g.765347A>G | CA407963853 | SLC52A3 | c.428T>C (p.Val143Ala) n.479T>C | |
20 | g.765347A>T | CA407963854 | SLC52A3 | c.428T>A (p.Val143Glu) n.479T>A | |
20 | g.765348C>A | CA407963855 | SLC52A3 | c.427G>T (p.Val143Leu) n.478G>T | |
20 | g.765348C>G | CA407963856 | SLC52A3 | c.427G>C (p.Val143Leu) n.478G>C | |
20 | g.765348C>T | CA407963857 | SLC52A3 | c.427G>A (p.Val143Met) n.478G>A | |
20 | g.765349A= | CA2345350110 | SLC52A3 | c.426T= (p.Phe142=) n.477T= | |
20 | g.765349A>C | CA407963858 | SLC52A3 | c.426T>G (p.Phe142Leu) n.477T>G | |
20 | g.765349A>G | CA509542760 | SLC52A3 | c.426T>C (p.Phe142=) n.477T>C | |
20 | g.765349A>T | CA407963859 | SLC52A3 | c.426T>A (p.Phe142Leu) n.477T>A | dbSNP |
20 | g.765349_765352delinsAAAG | CA2345350111 | SLC52A3 | c.423_426delinsCTTT (p.Phe141=) n.474_477delinsCTTT | |
20 | g.765350A>C | CA407963862 | SLC52A3 | c.425T>G (p.Phe142Cys) n.476T>G | |
20 | g.765350A>G | CA407963861 | SLC52A3 | c.425T>C (p.Phe142Ser) n.476T>C | |
20 | g.765350A>T | CA407963860 | SLC52A3 | c.425T>A (p.Phe142Tyr) n.476T>A | |
20 | g.765353_765355del | CA2345350112 | SLC52A3 | c.423_425del (p.Phe142del) n.474_476del | dbSNP |
20 | g.765351A>C | CA407963863 | SLC52A3 | c.424T>G (p.Phe142Val) n.475T>G | |
20 | g.765351A>G | CA407963865 | SLC52A3 | c.424T>C (p.Phe142Leu) n.475T>C | |
20 | g.765351A>T | CA407963864 | SLC52A3 | c.424T>A (p.Phe142Ile) n.475T>A | |
20 | g.765352G>A | CA509542761 | SLC52A3 | c.423C>T (p.Phe141=) n.474C>T | |
20 | g.765352G>C | CA407963866 | SLC52A3 | c.423C>G (p.Phe141Leu) n.474C>G | |
20 | g.765352G>T | CA407963867 | SLC52A3 | c.423C>A (p.Phe141Leu) n.474C>A | |
20 | g.765353A>C | CA407963868 | SLC52A3 | c.422T>G (p.Phe141Cys) n.473T>G | |
20 | g.765353A>G | CA407963870 | SLC52A3 | c.422T>C (p.Phe141Ser) n.473T>C | |
20 | g.765353A>T | CA407963869 | SLC52A3 | c.422T>A (p.Phe141Tyr) n.473T>A | |
20 | g.765354A= | CA2345350113 | SLC52A3 | c.421T= (p.Phe141=) n.472T= | |
20 | g.765354A>C | CA407963871 | SLC52A3 | c.421T>G (p.Phe141Val) n.472T>G | |
20 | g.765354A>G | CA407963872 | SLC52A3 | c.421T>C (p.Phe141Leu) n.472T>C | |
20 | g.765354A>T | CA9724785 | SLC52A3 | c.421T>A (p.Phe141Ile) n.472T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765355G>A | CA509542765 | SLC52A3 | c.420C>T (p.Thr140=) n.471C>T | gnomAD v4 |
20 | g.765355G>C | CA509542766 | SLC52A3 | c.420C>G (p.Thr140=) n.471C>G | gnomAD v4 |
20 | g.765355G>T | CA509542768 | SLC52A3 | c.420C>A (p.Thr140=) n.471C>A | |
20 | g.765356G>A | CA407963873 | SLC52A3 | c.419C>T (p.Thr140Ile) n.470C>T | gnomAD v4 |
20 | g.765356G>C | CA407963874 | SLC52A3 | c.419C>G (p.Thr140Ser) n.470C>G | |
20 | g.765356G>T | CA407963875 | SLC52A3 | c.419C>A (p.Thr140Asn) n.470C>A | |
20 | g.765357T>A | CA407963876 | SLC52A3 | c.418A>T (p.Thr140Ser) n.469A>T | |
20 | g.765357T>C | CA407963877 | SLC52A3 | c.418A>G (p.Thr140Ala) n.469A>G | |
20 | g.765357T>G | CA407963878 | SLC52A3 | c.418A>C (p.Thr140Pro) n.469A>C | |
20 | g.765358G>A | CA310679111 | SLC52A3 | c.417C>T (p.Thr139=) n.468C>T | dbSNP gnomAD v4 |
20 | g.765358G>C | CA509542771 | SLC52A3 | c.417C>G (p.Thr139=) n.468C>G | |
20 | g.765358G= | CA2345350114 | SLC52A3 | c.417C= (p.Thr139=) n.468C= | |
20 | g.765358G>T | CA509542769 | SLC52A3 | c.417C>A (p.Thr139=) n.468C>A | |
20 | g.765359G>A | CA407963879 | SLC52A3 | c.416C>T (p.Thr139Ile) n.467C>T | dbSNP gnomAD v2 |
20 | g.765359G>C | CA407963880 | SLC52A3 | c.416C>G (p.Thr139Ser) n.467C>G | |
20 | g.765359G= | CA2345350115 | SLC52A3 | c.416C= (p.Thr139=) n.467C= | |
20 | g.765359G>T | CA407963881 | SLC52A3 | c.416C>A (p.Thr139Asn) n.467C>A | |
20 | g.765360T>A | CA407963884 | SLC52A3 | c.415A>T (p.Thr139Ser) n.466A>T | |
20 | g.765360T>C | CA407963882 | SLC52A3 | c.415A>G (p.Thr139Ala) n.466A>G | gnomAD v4 |
20 | g.765360T>G | CA407963883 | SLC52A3 | c.415A>C (p.Thr139Pro) n.466A>C | |
20 | g.765361G>A | CA509542773 | SLC52A3 | c.414C>T (p.Leu138=) n.465C>T | dbSNP gnomAD v4 |
20 | g.765361G>C | CA310679117 | SLC52A3 | c.414C>G (p.Leu138=) n.465C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.765361G= | CA2345350116 | SLC52A3 | c.414C= (p.Leu138=) n.465C= | |
20 | g.765361G>T | CA310679134 | SLC52A3 | c.414C>A (p.Leu138=) n.465C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765362A>C | CA407963885 | SLC52A3 | c.413T>G (p.Leu138Arg) n.464T>G | |
20 | g.765362A>G | CA407963886 | SLC52A3 | c.413T>C (p.Leu138Pro) n.464T>C | |
20 | g.765362A>T | CA407963887 | SLC52A3 | c.413T>A (p.Leu138His) n.464T>A | |
20 | g.765363G>A | CA407963888 | SLC52A3 | c.412C>T (p.Leu138Phe) n.463C>T | gnomAD v4 |
20 | g.765363G>C | CA407963889 | SLC52A3 | c.412C>G (p.Leu138Val) n.463C>G | |
20 | g.765363G>T | CA407963890 | SLC52A3 | c.412C>A (p.Leu138Ile) n.463C>A | |
20 | g.765364G>A | CA9724786 | SLC52A3 | c.411C>T (p.Tyr137=) n.462C>T | ClinVar dbSNP ExAC gnomAD v2 |
20 | g.765364G>C | CA407963891 | SLC52A3 | c.411C>G (p.Tyr137Ter) n.462C>G | |
20 | g.765364G= | CA2345350117 | SLC52A3 | c.411C= (p.Tyr137=) n.462C= | |
20 | g.765364G>T | CA407963892 | SLC52A3 | c.411C>A (p.Tyr137Ter) n.462C>A | |
20 | g.765365T>A | CA407963895 | SLC52A3 | c.410A>T (p.Tyr137Phe) n.461A>T | |
20 | g.765365T>C | CA407963894 | SLC52A3 | c.410A>G (p.Tyr137Cys) n.461A>G | |
20 | g.765365T>G | CA407963893 | SLC52A3 | c.410A>C (p.Tyr137Ser) n.461A>C | |
20 | g.765366A>C | CA407963896 | SLC52A3 | c.409T>G (p.Tyr137Asp) n.460T>G | |
20 | g.765366A>G | CA407963897 | SLC52A3 | c.409T>C (p.Tyr137His) n.460T>C | gnomAD v4 |
20 | g.765366A>T | CA407963898 | SLC52A3 | c.409T>A (p.Tyr137Asn) n.460T>A | |
20 | g.765367G>A | CA9724787 | SLC52A3 | c.408C>T (p.Tyr136=) n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765367G>C | CA310679163 | SLC52A3 | c.408C>G (p.Tyr136Ter) n.459C>G | ClinVar dbSNP |
20 | g.765367G= | CA2345350118 | SLC52A3 | c.408C= (p.Tyr136=) n.459C= | |
20 | g.765367G>T | CA407963899 | SLC52A3 | c.408C>A (p.Tyr136Ter) n.459C>A | |
20 | g.765368T>A | CA407963900 | SLC52A3 | c.407A>T (p.Tyr136Phe) n.458A>T | |
20 | g.765368T>C | CA407963901 | SLC52A3 | c.407A>G (p.Tyr136Cys) n.458A>G | |
20 | g.765368T>G | CA407963902 | SLC52A3 | c.407A>C (p.Tyr136Ser) n.458A>C | |
20 | g.765369A>C | CA407963903 | SLC52A3 | c.406T>G (p.Tyr136Asp) n.457T>G | |
20 | g.765369A>G | CA407963904 | SLC52A3 | c.406T>C (p.Tyr136His) n.457T>C | |
20 | g.765369A>T | CA407963905 | SLC52A3 | c.406T>A (p.Tyr136Asn) n.457T>A | |
20 | g.765370G>A | CA509542778 | SLC52A3 | c.405C>T (p.Thr135=) n.456C>T | |
20 | g.765370G>C | CA509542779 | SLC52A3 | c.405C>G (p.Thr135=) n.456C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765370G= | CA2345350119 | SLC52A3 | c.405C= (p.Thr135=) n.456C= | |
20 | g.765370G>T | CA509542780 | SLC52A3 | c.405C>A (p.Thr135=) n.456C>A | |
20 | g.765371G>A | CA407963908 | SLC52A3 | c.404C>T (p.Thr135Ile) n.455C>T | gnomAD v4 |
20 | g.765371G>C | CA407963906 | SLC52A3 | c.404C>G (p.Thr135Ser) n.455C>G | |
20 | g.765371G>T | CA407963907 | SLC52A3 | c.404C>A (p.Thr135Asn) n.455C>A | |
20 | g.765372T>A | CA407963909 | SLC52A3 | c.403A>T (p.Thr135Ser) n.454A>T | |
20 | g.765372T>C | CA346999 | SLC52A3 | c.403A>G (p.Thr135Ala) n.454A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765372T>G | CA407963910 | SLC52A3 | c.403A>C (p.Thr135Pro) n.454A>C | |
20 | g.765372T= | CA2345350120 | SLC52A3 | c.403A= (p.Thr135=) n.454A= | |
20 | g.765373G>A | CA509542786 | SLC52A3 | c.402C>T (p.Pro134=) n.453C>T | |
20 | g.765373G>C | CA509542787 | SLC52A3 | c.402C>G (p.Pro134=) n.453C>G | |
20 | g.765373G>T | CA509542785 | SLC52A3 | c.402C>A (p.Pro134=) n.453C>A | |
20 | g.765374G>A | CA407963911 | SLC52A3 | c.401C>T (p.Pro134Leu) n.452C>T | |
20 | g.765374G>C | CA407963912 | SLC52A3 | c.401C>G (p.Pro134Arg) n.452C>G | dbSNP |
20 | g.765374G= | CA2345350121 | SLC52A3 | c.401C= (p.Pro134=) n.452C= | |
20 | g.765374G>T | CA407963913 | SLC52A3 | c.401C>A (p.Pro134His) n.452C>A | |
20 | g.765375G>A | CA407963914 | SLC52A3 | c.400C>T (p.Pro134Ser) n.451C>T | |
20 | g.765375G>C | CA407963915 | SLC52A3 | c.400C>G (p.Pro134Ala) n.451C>G | |
20 | g.765375G>T | CA407963916 | SLC52A3 | c.400C>A (p.Pro134Thr) n.451C>A | |
20 | g.765376C>A | CA509542793 | SLC52A3 | c.399G>T (p.Leu133=) n.450G>T | |
20 | g.765376C>G | CA509542791 | SLC52A3 | c.399G>C (p.Leu133=) n.450G>C | |
20 | g.765376C>T | CA509542792 | SLC52A3 | c.399G>A (p.Leu133=) n.450G>A | |
20 | g.765377A>C | CA407963917 | SLC52A3 | c.398T>G (p.Leu133Arg) n.449T>G | |
20 | g.765377A>G | CA407963918 | SLC52A3 | c.398T>C (p.Leu133Pro) n.449T>C | |
20 | g.765377A>T | CA407963919 | SLC52A3 | c.398T>A (p.Leu133Gln) n.449T>A | |
20 | g.765378G>A | CA509542797 | SLC52A3 | c.397C>T (p.Leu133=) n.448C>T | |
20 | g.765378G>C | CA407963921 | SLC52A3 | c.397C>G (p.Leu133Val) n.448C>G | |
20 | g.765378G>T | CA407963920 | SLC52A3 | c.397C>A (p.Leu133Met) n.448C>A | |
20 | g.765379C>A | CA509542799 | SLC52A3 | c.396G>T (p.Arg132=) n.447G>T | |
20 | g.765379C>G | CA509542800 | SLC52A3 | c.396G>C (p.Arg132=) n.447G>C | |
20 | g.765379C>T | CA509542798 | SLC52A3 | c.396G>A (p.Arg132=) n.447G>A | |
20 | g.765380C>A | CA407963922 | SLC52A3 | c.395G>T (p.Arg132Leu) n.446G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765380C= | CA2345350122 | SLC52A3 | c.395G= (p.Arg132=) n.446G= | |
20 | g.765380C>G | CA407963923 | SLC52A3 | c.395G>C (p.Arg132Pro) n.446G>C | |
20 | g.765380C>T | CA9724788 | SLC52A3 | c.395G>A (p.Arg132Gln) n.446G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765381G>A | CA339794 | SLC52A3 | c.394C>T (p.Arg132Trp) n.445C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765381G>C | CA407963924 | SLC52A3 | c.394C>G (p.Arg132Gly) n.445C>G | |
20 | g.765381G= | CA2345350123 | SLC52A3 | c.394C= (p.Arg132=) n.445C= | |
20 | g.765381G>T | CA509542805 | SLC52A3 | c.394C>A (p.Arg132=) n.445C>A | ClinVar dbSNP |
20 | g.765382del | CA2651547885 | SLC52A3 | c.394del (p.Arg132GlyfsTer?) n.445del | gnomAD v4 |
20 | g.765382G>A | CA509542808 | SLC52A3 | c.393C>T (p.Ser131=) n.444C>T | |
20 | g.765382G>C | CA407963925 | SLC52A3 | c.393C>G (p.Ser131Arg) n.444C>G | |
20 | g.765382G>T | CA407963926 | SLC52A3 | c.393C>A (p.Ser131Arg) n.444C>A | COSMIC |
20 | g.765383C>A | CA407963927 | SLC52A3 | c.392G>T (p.Ser131Ile) n.443G>T | |
20 | g.765383C>G | CA407963928 | SLC52A3 | c.392G>C (p.Ser131Thr) n.443G>C | |
20 | g.765383C>T | CA407963929 | SLC52A3 | c.392G>A (p.Ser131Asn) n.443G>A | gnomAD v4 |
20 | g.765384T>A | CA407963930 | SLC52A3 | c.391A>T (p.Ser131Cys) n.442A>T | |
20 | g.765384T>C | CA407963931 | SLC52A3 | c.391A>G (p.Ser131Gly) n.442A>G | |
20 | g.765384T>G | CA407963932 | SLC52A3 | c.391A>C (p.Ser131Arg) n.442A>C | |
20 | g.765385C>A | CA407963933 | SLC52A3 | c.390G>T (p.Met130Ile) n.441G>T | |
20 | g.765385C= | CA2345350124 | SLC52A3 | c.390G= (p.Met130=) n.441G= | |
20 | g.765385C>G | CA407963934 | SLC52A3 | c.390G>C (p.Met130Ile) n.441G>C | |
20 | g.765385C>T | CA407963935 | SLC52A3 | c.390G>A (p.Met130Ile) n.441G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765386A>C | CA407963936 | SLC52A3 | c.389T>G (p.Met130Arg) n.440T>G | |
20 | g.765386A>G | CA407963938 | SLC52A3 | c.389T>C (p.Met130Thr) n.440T>C | |
20 | g.765386A>T | CA407963937 | SLC52A3 | c.389T>A (p.Met130Lys) n.440T>A | |
20 | g.765387T>A | CA407963939 | SLC52A3 | c.388A>T (p.Met130Leu) n.439A>T | |
20 | g.765387T>C | CA407963940 | SLC52A3 | c.388A>G (p.Met130Val) n.439A>G | |
20 | g.765387T>G | CA407963941 | SLC52A3 | c.388A>C (p.Met130Leu) n.439A>C | |
20 | g.765388G>A | CA509542813 | SLC52A3 | c.387C>T (p.Phe129=) n.438C>T | COSMIC COSMIC |
20 | g.765388G>C | CA407963942 | SLC52A3 | c.387C>G (p.Phe129Leu) n.438C>G | |
20 | g.765388G>T | CA407963943 | SLC52A3 | c.387C>A (p.Phe129Leu) n.438C>A | |
20 | g.765389A>C | CA407963944 | SLC52A3 | c.386T>G (p.Phe129Cys) n.437T>G | |
20 | g.765389A>G | CA407963945 | SLC52A3 | c.386T>C (p.Phe129Ser) n.437T>C | |
20 | g.765389A>T | CA407963946 | SLC52A3 | c.386T>A (p.Phe129Tyr) n.437T>A | |
20 | g.765390A>C | CA407963947 | SLC52A3 | c.385T>G (p.Phe129Val) n.436T>G | |
20 | g.765390A>G | CA407963948 | SLC52A3 | c.385T>C (p.Phe129Leu) n.436T>C | |
20 | g.765390A>T | CA407963949 | SLC52A3 | c.385T>A (p.Phe129Ile) n.436T>A | |
20 | g.765391C>A | CA509542816 | SLC52A3 | c.384G>T (p.Pro128=) n.435G>T | gnomAD v4 |
20 | g.765391C= | CA2345350125 | SLC52A3 | c.384G= (p.Pro128=) n.435G= | |
20 | g.765391C>G | CA509542817 | SLC52A3 | c.384G>C (p.Pro128=) n.435G>C | |
20 | g.765391C>T | CA9724789 | SLC52A3 | c.384G>A (p.Pro128=) n.435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765392G>A | CA310679172 | SLC52A3 | c.383C>T (p.Pro128Leu) n.434C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.765392G>C | CA407963950 | SLC52A3 | c.383C>G (p.Pro128Arg) n.434C>G | |
20 | g.765392G= | CA2345350126 | SLC52A3 | c.383C= (p.Pro128=) n.434C= | |
20 | g.765392G>T | CA407963951 | SLC52A3 | c.383C>A (p.Pro128Gln) n.434C>A | |
20 | g.765393G>A | CA407963952 | SLC52A3 | c.382C>T (p.Pro128Ser) n.433C>T | |
20 | g.765393G>C | CA407963953 | SLC52A3 | c.382C>G (p.Pro128Ala) n.433C>G | |
20 | g.765393G>T | CA407963954 | SLC52A3 | c.382C>A (p.Pro128Thr) n.433C>A | gnomAD v4 |
20 | g.765394C>A | CA509542819 | SLC52A3 | c.381G>T (p.Leu127=) n.432G>T | |
20 | g.765394C>G | CA509542820 | SLC52A3 | c.381G>C (p.Leu127=) n.432G>C | |
20 | g.765394C>T | CA509542822 | SLC52A3 | c.381G>A (p.Leu127=) n.432G>A | |
20 | g.765395A>C | CA407963955 | SLC52A3 | c.380T>G (p.Leu127Arg) n.431T>G | |
20 | g.765395A>G | CA407963956 | SLC52A3 | c.380T>C (p.Leu127Pro) n.431T>C | |
20 | g.765395A>T | CA407963957 | SLC52A3 | c.380T>A (p.Leu127Gln) n.431T>A | |
20 | g.765396G>A | CA509542823 | SLC52A3 | c.379C>T (p.Leu127=) n.430C>T | |
20 | g.765396G>C | CA407963958 | SLC52A3 | c.379C>G (p.Leu127Val) n.430C>G | |
20 | g.765396G>T | CA407963959 | SLC52A3 | c.379C>A (p.Leu127Met) n.430C>A | |
20 | g.765397G>A | CA509542824 | SLC52A3 | c.378C>T (p.Phe126=) n.429C>T | ClinVar dbSNP gnomAD v4 |
20 | g.765397G>C | CA407963960 | SLC52A3 | c.378C>G (p.Phe126Leu) n.429C>G | |
20 | g.765397G= | CA2345350127 | SLC52A3 | c.378C= (p.Phe126=) n.429C= | |
20 | g.765397G>T | CA407963961 | SLC52A3 | c.378C>A (p.Phe126Leu) n.429C>A | |
20 | g.765398A>C | CA407963964 | SLC52A3 | c.377T>G (p.Phe126Cys) n.428T>G | |
20 | g.765398A>G | CA407963963 | SLC52A3 | c.377T>C (p.Phe126Ser) n.428T>C | |
20 | g.765398A>T | CA407963962 | SLC52A3 | c.377T>A (p.Phe126Tyr) n.428T>A | |
20 | g.765399A= | CA2345350128 | SLC52A3 | c.376T= (p.Phe126=) n.427T= | |
20 | g.765399A>C | CA407963965 | SLC52A3 | c.376T>G (p.Phe126Val) n.427T>G | |
20 | g.765399A>G | CA407963966 | SLC52A3 | c.376T>C (p.Phe126Leu) n.427T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765399A>T | CA407963967 | SLC52A3 | c.376T>A (p.Phe126Ile) n.427T>A | |
20 | g.765400G>A | CA509542828 | SLC52A3 | c.375C>T (p.Thr125=) n.426C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765400G>C | CA509542829 | SLC52A3 | c.375C>G (p.Thr125=) n.426C>G | |
20 | g.765400G= | CA2345350129 | SLC52A3 | c.375C= (p.Thr125=) n.426C= | |
20 | g.765400G>T | CA9724790 | SLC52A3 | c.375C>A (p.Thr125=) n.426C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765401G>A | CA407963968 | SLC52A3 | c.374C>T (p.Thr125Ile) n.425C>T | ClinVar |
20 | g.765401G>C | CA407963969 | SLC52A3 | c.374C>G (p.Thr125Ser) n.425C>G | gnomAD v4 |
20 | g.765401G= | CA2345350130 | SLC52A3 | c.374C= (p.Thr125=) n.425C= | |
20 | g.765401G>T | CA346997 | SLC52A3 | c.374C>A (p.Thr125Asn) n.425C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765402T>A | CA407963970 | SLC52A3 | c.373A>T (p.Thr125Ser) n.424A>T | |
20 | g.765402T>C | CA407963971 | SLC52A3 | c.373A>G (p.Thr125Ala) n.424A>G | |
20 | g.765402T>G | CA407963972 | SLC52A3 | c.373A>C (p.Thr125Pro) n.424A>C | dbSNP |
20 | g.765402T= | CA2345350131 | SLC52A3 | c.373A= (p.Thr125=) n.424A= | |
20 | g.765403C>A | CA509542834 | SLC52A3 | c.372G>T (p.Val124=) n.423G>T | |
20 | g.765403C>G | CA509542835 | SLC52A3 | c.372G>C (p.Val124=) n.423G>C | |
20 | g.765403C>T | CA509542836 | SLC52A3 | c.372G>A (p.Val124=) n.423G>A | gnomAD v4 |
20 | g.765404A>C | CA407963973 | SLC52A3 | c.371T>G (p.Val124Gly) n.422T>G | |
20 | g.765404A>G | CA407963974 | SLC52A3 | c.371T>C (p.Val124Ala) n.422T>C | |
20 | g.765404A>T | CA407963975 | SLC52A3 | c.371T>A (p.Val124Glu) n.422T>A | |
20 | g.765405C>A | CA407963978 | SLC52A3 | c.370G>T (p.Val124Leu) n.421G>T | |
20 | g.765405C>G | CA407963977 | SLC52A3 | c.370G>C (p.Val124Leu) n.421G>C | |
20 | g.765405C>T | CA407963976 | SLC52A3 | c.370G>A (p.Val124Met) n.421G>A | |
20 | g.765406T>A | CA509542838 | SLC52A3 | c.369A>T (p.Ser123=) n.420A>T | |
20 | g.765406T>C | CA509542839 | SLC52A3 | c.369A>G (p.Ser123=) n.420A>G | dbSNP |
20 | g.765406T>G | CA509542840 | SLC52A3 | c.369A>C (p.Ser123=) n.420A>C | |
20 | g.765407G>A | CA407963981 | SLC52A3 | c.368C>T (p.Ser123Leu) n.419C>T | |
20 | g.765407G>C | CA407963979 | SLC52A3 | c.368C>G (p.Ser123Ter) n.419C>G | |
20 | g.765407G>T | CA407963980 | SLC52A3 | c.368C>A (p.Ser123Ter) n.419C>A | |
20 | g.765408A>C | CA407963982 | SLC52A3 | c.367T>G (p.Ser123Ala) n.418T>G | |
20 | g.765408A>G | CA407963983 | SLC52A3 | c.367T>C (p.Ser123Pro) n.418T>C | |
20 | g.765408A>T | CA407963984 | SLC52A3 | c.367T>A (p.Ser123Thr) n.418T>A | |
20 | g.765409A>C | CA509542842 | SLC52A3 | c.366T>G (p.Ser122=) n.417T>G | |
20 | g.765409A>G | CA509542843 | SLC52A3 | c.366T>C (p.Ser122=) n.417T>C | |
20 | g.765409A>T | CA509542845 | SLC52A3 | c.366T>A (p.Ser122=) n.417T>A | |
20 | g.765410G>A | CA407963985 | SLC52A3 | c.365C>T (p.Ser122Phe) n.416C>T | |
20 | g.765410G>C | CA407963986 | SLC52A3 | c.365C>G (p.Ser122Cys) n.416C>G | |
20 | g.765410G>T | CA407963987 | SLC52A3 | c.365C>A (p.Ser122Tyr) n.416C>A | |
20 | g.765411A>C | CA407963988 | SLC52A3 | c.364T>G (p.Ser122Ala) n.415T>G | |
20 | g.765411A>G | CA407963990 | SLC52A3 | c.364T>C (p.Ser122Pro) n.415T>C | gnomAD v4 |
20 | g.765411A>T | CA407963989 | SLC52A3 | c.364T>A (p.Ser122Thr) n.415T>A | |
20 | g.765412G>A | CA509542848 | SLC52A3 | c.363C>T (p.Thr121=) n.414C>T | |
20 | g.765412G>C | CA9724791 | SLC52A3 | c.363C>G (p.Thr121=) n.414C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765412G= | CA2345350132 | SLC52A3 | c.363C= (p.Thr121=) n.414C= | |
20 | g.765412G>T | CA509542849 | SLC52A3 | c.363C>A (p.Thr121=) n.414C>A | |
20 | g.765413G>A | CA407963991 | SLC52A3 | c.362C>T (p.Thr121Ile) n.413C>T | dbSNP gnomAD v4 |
20 | g.765413G>C | CA407963992 | SLC52A3 | c.362C>G (p.Thr121Ser) n.413C>G | |
20 | g.765413G= | CA2345350133 | SLC52A3 | c.362C= (p.Thr121=) n.413C= | |
20 | g.765413G>T | CA407963993 | SLC52A3 | c.362C>A (p.Thr121Asn) n.413C>A | gnomAD v4 |
20 | g.765414T>A | CA407963996 | SLC52A3 | c.361A>T (p.Thr121Ser) n.412A>T | |
20 | g.765414T>C | CA407963994 | SLC52A3 | c.361A>G (p.Thr121Ala) n.412A>G | |
20 | g.765414T>G | CA407963995 | SLC52A3 | c.361A>C (p.Thr121Pro) n.412A>C | dbSNP |
20 | g.765414T= | CA2345350134 | SLC52A3 | c.361A= (p.Thr121=) n.412A= | |
20 | g.765415G>A | CA509542853 | SLC52A3 | c.360C>T (p.Cys120=) n.411C>T | gnomAD v4 |
20 | g.765415G>C | CA407963997 | SLC52A3 | c.360C>G (p.Cys120Trp) n.411C>G | |
20 | g.765415G>T | CA407963998 | SLC52A3 | c.360C>A (p.Cys120Ter) n.411C>A | |
20 | g.765415dup | CA2651547886 | SLC52A3 | c.360dup (p.Thr121HisfsTer25) n.411dup | gnomAD v4 |
20 | g.765416C>A | CA407963999 | SLC52A3 | c.359G>T (p.Cys120Phe) n.410G>T | |
20 | g.765416C>G | CA407964000 | SLC52A3 | c.359G>C (p.Cys120Ser) n.410G>C | |
20 | g.765416C>T | CA407964001 | SLC52A3 | c.359G>A (p.Cys120Tyr) n.410G>A | |
20 | g.765416_765417insCCT | CA2651547887 | SLC52A3 | c.358_359insAGG (p.Cys120Ter) n.409_410insAGG | gnomAD v4 |
20 | g.765417A= | CA2345350135 | SLC52A3 | c.358T= (p.Cys120=) n.409T= | |
20 | g.765417A>C | CA407964002 | SLC52A3 | c.358T>G (p.Cys120Gly) n.409T>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765417A>G | CA9724792 | SLC52A3 | c.358T>C (p.Cys120Arg) n.409T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765417A>T | CA407964003 | SLC52A3 | c.358T>A (p.Cys120Ser) n.409T>A | |
20 | g.765418G>A | CA509542856 | SLC52A3 | c.357C>T (p.Asp119=) n.408C>T | |
20 | g.765418G>C | CA407964004 | SLC52A3 | c.357C>G (p.Asp119Glu) n.408C>G | |
20 | g.765418G>T | CA407964005 | SLC52A3 | c.357C>A (p.Asp119Glu) n.408C>A | |
20 | g.765419T>A | CA407964006 | SLC52A3 | c.356A>T (p.Asp119Val) n.407A>T | |
20 | g.765419T>C | CA407964007 | SLC52A3 | c.356A>G (p.Asp119Gly) n.407A>G | |
20 | g.765419T>G | CA407964008 | SLC52A3 | c.356A>C (p.Asp119Ala) n.407A>C | |
20 | g.765420C>A | CA407964009 | SLC52A3 | c.355G>T (p.Asp119Tyr) n.406G>T | |
20 | g.765420C>G | CA407964011 | SLC52A3 | c.355G>C (p.Asp119His) n.406G>C | |
20 | g.765420C>T | CA407964010 | SLC52A3 | c.355G>A (p.Asp119Asn) n.406G>A | |
20 | g.765421C>A | CA509542861 | SLC52A3 | c.354G>T (p.Val118=) n.405G>T | |
20 | g.765421C>G | CA509542862 | SLC52A3 | c.354G>C (p.Val118=) n.405G>C | |
20 | g.765421C>T | CA509542863 | SLC52A3 | c.354G>A (p.Val118=) n.405G>A | |
20 | g.765422A>C | CA407964012 | SLC52A3 | c.353T>G (p.Val118Gly) n.404T>G | |
20 | g.765422A>G | CA407964013 | SLC52A3 | c.353T>C (p.Val118Ala) n.404T>C | |
20 | g.765422A>T | CA407964014 | SLC52A3 | c.353T>A (p.Val118Glu) n.404T>A | ClinVar |
20 | g.765423C>A | CA407964015 | SLC52A3 | c.352G>T (p.Val118Leu) n.403G>T | |
20 | g.765423C= | CA2345350136 | SLC52A3 | c.352G= (p.Val118=) n.403G= | |
20 | g.765423C>G | CA407964016 | SLC52A3 | c.352G>C (p.Val118Leu) n.403G>C | |
20 | g.765423C>T | CA407964017 | SLC52A3 | c.352G>A (p.Val118Met) n.403G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.765424C>A | CA509542870 | SLC52A3 | c.351G>T (p.Leu117=) n.402G>T | |
20 | g.765424C>G | CA509542873 | SLC52A3 | c.351G>C (p.Leu117=) n.402G>C | |
20 | g.765424C>T | CA509542872 | SLC52A3 | c.351G>A (p.Leu117=) n.402G>A | |
20 | g.765425A= | CA2345350137 | SLC52A3 | c.350T= (p.Leu117=) n.401T= | |
20 | g.765425A>C | CA407964020 | SLC52A3 | c.350T>G (p.Leu117Arg) n.401T>G | |
20 | g.765425A>G | CA407964018 | SLC52A3 | c.350T>C (p.Leu117Pro) n.401T>C | dbSNP |
20 | g.765425A>T | CA407964019 | SLC52A3 | c.350T>A (p.Leu117Gln) n.401T>A | |
20 | g.765426G>A | CA509542876 | SLC52A3 | c.349C>T (p.Leu117=) n.400C>T | gnomAD v4 |
20 | g.765426G>C | CA407964021 | SLC52A3 | c.349C>G (p.Leu117Val) n.400C>G | |
20 | g.765426G>T | CA407964022 | SLC52A3 | c.349C>A (p.Leu117Met) n.400C>A |