Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2496552del | CA2580091033 | TBC1D24 | c.404del (p.Pro135ArgfsTer?) n.586del | ClinVar |
16 | g.2496552C>A | CA394375854 | TBC1D24 | c.404C>A (p.Pro135Gln) n.586C>A | |
16 | g.2496552C= | CA2202259860 | TBC1D24 | c.404C= (p.Pro135=) n.586C= | |
16 | g.2496552C>G | CA394375856 | TBC1D24 | c.404C>G (p.Pro135Arg) n.586C>G | |
16 | g.2496552C>T | CA16044430 | TBC1D24 | c.404C>T (p.Pro135Leu) n.586C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496553G>A | CA7843993 | TBC1D24 | c.405G>A (p.Pro135=) n.587G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496553G>C | CA493366653 | TBC1D24 | c.405G>C (p.Pro135=) n.587G>C | |
16 | g.2496553G= | CA2202259861 | TBC1D24 | c.405G= (p.Pro135=) n.587G= | |
16 | g.2496553G>T | CA493366654 | TBC1D24 | c.405G>T (p.Pro135=) n.587G>T | gnomAD v4 |
16 | g.2496554G>A | CA394375862 | TBC1D24 | c.406G>A (p.Ala136Thr) n.588G>A | |
16 | g.2496554G>C | CA394375863 | TBC1D24 | c.406G>C (p.Ala136Pro) n.588G>C | |
16 | g.2496554G= | CA2202259862 | TBC1D24 | c.406G= (p.Ala136=) n.588G= | |
16 | g.2496554G>T | CA394375865 | TBC1D24 | c.406G>T (p.Ala136Ser) n.588G>T | dbSNP gnomAD v4 |
16 | g.2496555C>A | CA394375868 | TBC1D24 | c.407C>A (p.Ala136Asp) n.589C>A | |
16 | g.2496555C>G | CA394375870 | TBC1D24 | c.407C>G (p.Ala136Gly) n.589C>G | |
16 | g.2496555C>T | CA394375872 | TBC1D24 | c.407C>T (p.Ala136Val) n.589C>T | |
16 | g.2496556C>A | CA493366656 | TBC1D24 | c.408C>A (p.Ala136=) n.590C>A | |
16 | g.2496556C= | CA2202259863 | TBC1D24 | c.408C= (p.Ala136=) n.590C= | |
16 | g.2496556C>G | CA493366657 | TBC1D24 | c.408C>G (p.Ala136=) n.590C>G | gnomAD v4 |
16 | g.2496556C>T | CA7843994 | TBC1D24 | c.408C>T (p.Ala136=) n.590C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496557G>A | CA7843995 | TBC1D24 | c.409G>A (p.Val137Met) n.591G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496557G>C | CA394375878 | TBC1D24 | c.409G>C (p.Val137Leu) n.591G>C | |
16 | g.2496557G= | CA2202259864 | TBC1D24 | c.409G= (p.Val137=) n.591G= | |
16 | g.2496557G>T | CA394375876 | TBC1D24 | c.409G>T (p.Val137Leu) n.591G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496558T>A | CA394375886 | TBC1D24 | c.410T>A (p.Val137Glu) n.592T>A | |
16 | g.2496558T>C | CA394375882 | TBC1D24 | c.410T>C (p.Val137Ala) n.592T>C | |
16 | g.2496558T>G | CA394375884 | TBC1D24 | c.410T>G (p.Val137Gly) n.592T>G | |
16 | g.2496559G>A | CA493366658 | TBC1D24 | c.411G>A (p.Val137=) n.593G>A | |
16 | g.2496559G>C | CA493366659 | TBC1D24 | c.411G>C (p.Val137=) n.593G>C | |
16 | g.2496559G>T | CA493366660 | TBC1D24 | c.411G>T (p.Val137=) n.593G>T | gnomAD v4 |
16 | g.2496560G>A | CA394375887 | TBC1D24 | c.412G>A (p.Val138Met) n.594G>A | dbSNP gnomAD v2 |
16 | g.2496560G>C | CA394375889 | TBC1D24 | c.412G>C (p.Val138Leu) n.594G>C | gnomAD v4 |
16 | g.2496560G= | CA2202259865 | TBC1D24 | c.412G= (p.Val138=) n.594G= | |
16 | g.2496560G>T | CA394375892 | TBC1D24 | c.412G>T (p.Val138Leu) n.594G>T | |
16 | g.2496561T>A | CA394375895 | TBC1D24 | c.413T>A (p.Val138Glu) n.595T>A | |
16 | g.2496561T>C | CA394375897 | TBC1D24 | c.413T>C (p.Val138Ala) n.595T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496561T>G | CA394375898 | TBC1D24 | c.413T>G (p.Val138Gly) n.595T>G | |
16 | g.2496561T= | CA2202259866 | TBC1D24 | c.413T= (p.Val138=) n.595T= | |
16 | g.2496562G>A | CA276809624 | TBC1D24 | c.414G>A (p.Val138=) n.596G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496562G>C | CA493366665 | TBC1D24 | c.414G>C (p.Val138=) n.596G>C | |
16 | g.2496562G= | CA2202259867 | TBC1D24 | c.414G= (p.Val138=) n.596G= | |
16 | g.2496562G>T | CA493366666 | TBC1D24 | c.414G>T (p.Val138=) n.596G>T | gnomAD v4 |
16 | g.2496563G>A | CA7843996 | TBC1D24 | c.415G>A (p.Ala139Thr) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496563G>C | CA394375902 | TBC1D24 | c.415G>C (p.Ala139Pro) n.597G>C | |
16 | g.2496563G= | CA2202259868 | TBC1D24 | c.415G= (p.Ala139=) n.597G= | |
16 | g.2496563G>T | CA394375904 | TBC1D24 | c.415G>T (p.Ala139Ser) n.597G>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496564C>A | CA394375906 | TBC1D24 | c.416C>A (p.Ala139Asp) n.598C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496564C= | CA2202259869 | TBC1D24 | c.416C= (p.Ala139=) n.598C= | |
16 | g.2496564C>G | CA394375908 | TBC1D24 | c.416C>G (p.Ala139Gly) n.598C>G | |
16 | g.2496564C>T | CA394375910 | TBC1D24 | c.416C>T (p.Ala139Val) n.598C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496566del | CA2631209895 | TBC1D24 | c.418del (p.Leu140CysfsTer29) n.600del | gnomAD v4 |
16 | g.2496565C>A | CA493366670 | TBC1D24 | c.417C>A (p.Ala139=) n.599C>A | ClinVar |
16 | g.2496565C= | CA2202259870 | TBC1D24 | c.417C= (p.Ala139=) n.599C= | |
16 | g.2496565C>G | CA493366668 | TBC1D24 | c.417C>G (p.Ala139=) n.599C>G | |
16 | g.2496565C>T | CA493366669 | TBC1D24 | c.417C>T (p.Ala139=) n.599C>T | dbSNP |
16 | g.2496566C>A | CA394375912 | TBC1D24 | c.418C>A (p.Leu140Met) n.600C>A | |
16 | g.2496566C= | CA2202259871 | TBC1D24 | c.418C= (p.Leu140=) n.600C= | |
16 | g.2496566C>G | CA394375913 | TBC1D24 | c.418C>G (p.Leu140Val) n.600C>G | ClinVar dbSNP gnomAD v4 |
16 | g.2496566C>T | CA493366671 | TBC1D24 | c.418C>T (p.Leu140=) n.600C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496567T>A | CA394375917 | TBC1D24 | c.419T>A (p.Leu140Gln) n.601T>A | |
16 | g.2496567T>C | CA394375918 | TBC1D24 | c.419T>C (p.Leu140Pro) n.601T>C | |
16 | g.2496567T>G | CA394375920 | TBC1D24 | c.419T>G (p.Leu140Arg) n.601T>G | |
16 | g.2496568G>A | CA493366674 | TBC1D24 | c.420G>A (p.Leu140=) n.602G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496568G>C | CA493366675 | TBC1D24 | c.420G>C (p.Leu140=) n.602G>C | |
16 | g.2496568G= | CA2202259872 | TBC1D24 | c.420G= (p.Leu140=) n.602G= | |
16 | g.2496568G>T | CA493366676 | TBC1D24 | c.420G>T (p.Leu140=) n.602G>T | gnomAD v4 |
16 | g.2496569C>A | CA7843997 | TBC1D24 | c.421C>A (p.Leu141Met) n.603C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496569C= | CA2202259873 | TBC1D24 | c.421C= (p.Leu141=) n.603C= | |
16 | g.2496569C>G | CA394375924 | TBC1D24 | c.421C>G (p.Leu141Val) n.603C>G | |
16 | g.2496569C>T | CA493366678 | TBC1D24 | c.421C>T (p.Leu141=) n.603C>T | gnomAD v4 |
16 | g.2496570T>A | CA394375926 | TBC1D24 | c.422T>A (p.Leu141Gln) n.604T>A | |
16 | g.2496570T>C | CA276809625 | TBC1D24 | c.422T>C (p.Leu141Pro) n.604T>C | dbSNP |
16 | g.2496570T>G | CA394375929 | TBC1D24 | c.422T>G (p.Leu141Arg) n.604T>G | |
16 | g.2496570T= | CA2202259874 | TBC1D24 | c.422T= (p.Leu141=) n.604T= | |
16 | g.2496571G>A | CA493366680 | TBC1D24 | c.423G>A (p.Leu141=) n.605G>A | gnomAD v4 |
16 | g.2496571G>C | CA493366682 | TBC1D24 | c.423G>C (p.Leu141=) n.605G>C | |
16 | g.2496571G>T | CA493366683 | TBC1D24 | c.423G>T (p.Leu141=) n.605G>T | |
16 | g.2496572C>A | CA394375931 | TBC1D24 | c.424C>A (p.Leu142Met) n.606C>A | |
16 | g.2496572C= | CA2202259875 | TBC1D24 | c.424C= (p.Leu142=) n.606C= | |
16 | g.2496572C>G | CA394375933 | TBC1D24 | c.424C>G (p.Leu142Val) n.606C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496572C>T | CA493366684 | TBC1D24 | c.424C>T (p.Leu142=) n.606C>T | |
16 | g.2496573T>A | CA394375937 | TBC1D24 | c.425T>A (p.Leu142Gln) n.607T>A | |
16 | g.2496573T>C | CA394375938 | TBC1D24 | c.425T>C (p.Leu142Pro) n.607T>C | gnomAD v4 COSMIC |
16 | g.2496573T>G | CA394375941 | TBC1D24 | c.425T>G (p.Leu142Arg) n.607T>G | gnomAD v4 |
16 | g.2496574G>A | CA493366688 | TBC1D24 | c.426G>A (p.Leu142=) n.608G>A | gnomAD v4 |
16 | g.2496574G>C | CA493366689 | TBC1D24 | c.426G>C (p.Leu142=) n.608G>C | |
16 | g.2496574G>T | CA493366690 | TBC1D24 | c.426G>T (p.Leu142=) n.608G>T | |
16 | g.2496575C>A | CA394375946 | TBC1D24 | c.427C>A (p.His143Asn) n.609C>A | gnomAD v4 |
16 | g.2496575C= | CA2202259876 | TBC1D24 | c.427C= (p.His143=) n.609C= | |
16 | g.2496575C>G | CA394375947 | TBC1D24 | c.427C>G (p.His143Asp) n.609C>G | |
16 | g.2496575C>T | CA394375943 | TBC1D24 | c.427C>T (p.His143Tyr) n.609C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496576A>C | CA394375950 | TBC1D24 | c.428A>C (p.His143Pro) n.610A>C | gnomAD v4 |
16 | g.2496576A>G | CA394375954 | TBC1D24 | c.428A>G (p.His143Arg) n.610A>G | |
16 | g.2496576A>T | CA394375952 | TBC1D24 | c.428A>T (p.His143Leu) n.610A>T | |
16 | g.2496577del | CA2695222783 | TBC1D24 | c.429del (p.Tyr144ThrfsTer25) n.611del | dbSNP |
16 | g.2496577C>A | CA394375957 | TBC1D24 | c.429C>A (p.His143Gln) n.611C>A | |
16 | g.2496577C>G | CA394375959 | TBC1D24 | c.429C>G (p.His143Gln) n.611C>G | gnomAD v4 |
16 | g.2496577C>T | CA493366692 | TBC1D24 | c.429C>T (p.His143=) n.611C>T | |
16 | g.2496578T>A | CA394375962 | TBC1D24 | c.430T>A (p.Tyr144Asn) n.612T>A | dbSNP gnomAD v4 |
16 | g.2496578T>C | CA7843998 | TBC1D24 | c.430T>C (p.Tyr144His) n.612T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496578T>G | CA394375965 | TBC1D24 | c.430T>G (p.Tyr144Asp) n.612T>G | |
16 | g.2496578T= | CA2202259877 | TBC1D24 | c.430T= (p.Tyr144=) n.612T= | |
16 | g.2496579A= | CA2202259878 | TBC1D24 | c.431A= (p.Tyr144=) n.613A= | |
16 | g.2496579A>C | CA394375968 | TBC1D24 | c.431A>C (p.Tyr144Ser) n.613A>C | |
16 | g.2496579A>G | CA394375970 | TBC1D24 | c.431A>G (p.Tyr144Cys) n.613A>G | ClinVar dbSNP |
16 | g.2496579A>T | CA394375972 | TBC1D24 | c.431A>T (p.Tyr144Phe) n.613A>T | |
16 | g.2496580C>A | CA394375973 | TBC1D24 | c.432C>A (p.Tyr144Ter) n.614C>A | |
16 | g.2496580C= | CA2202259879 | TBC1D24 | c.432C= (p.Tyr144=) n.614C= | |
16 | g.2496580C>G | CA394375975 | TBC1D24 | c.432C>G (p.Tyr144Ter) n.614C>G | |
16 | g.2496580C>T | CA493366694 | TBC1D24 | c.432C>T (p.Tyr144=) n.614C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496580_2496581insGAGGCCGAG | CA2575883947 | TBC1D24 | c.432_433insGAGGCCGAG (p.Tyr144_Ser145insGluAlaGlu) n.614_615insGAGGCCGAG | |
16 | g.2496581A>C | CA394375977 | TBC1D24 | c.433A>C (p.Ser145Arg) n.615A>C | |
16 | g.2496581A>G | CA394375978 | TBC1D24 | c.433A>G (p.Ser145Gly) n.615A>G | |
16 | g.2496581A>T | CA394375980 | TBC1D24 | c.433A>T (p.Ser145Cys) n.615A>T | |
16 | g.2496582G>A | CA394375983 | TBC1D24 | c.434G>A (p.Ser145Asn) n.616G>A | ClinVar dbSNP gnomAD v4 |
16 | g.2496582G>C | CA394375986 | TBC1D24 | c.434G>C (p.Ser145Thr) n.616G>C | |
16 | g.2496582G>T | CA394375984 | TBC1D24 | c.434G>T (p.Ser145Ile) n.616G>T | gnomAD v4 |
16 | g.2496583C>A | CA394375987 | TBC1D24 | c.435C>A (p.Ser145Arg) n.617C>A | |
16 | g.2496583C>G | CA394375989 | TBC1D24 | c.435C>G (p.Ser145Arg) n.617C>G | |
16 | g.2496583C>T | CA493366699 | TBC1D24 | c.435C>T (p.Ser145=) n.617C>T | gnomAD v4 |
16 | g.2496584A= | CA2202259880 | TBC1D24 | c.436A= (p.Ile146=) n.618A= | |
16 | g.2496584A>C | CA394375991 | TBC1D24 | c.436A>C (p.Ile146Leu) n.618A>C | |
16 | g.2496584A>G | CA394375992 | TBC1D24 | c.436A>G (p.Ile146Val) n.618A>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496584A>T | CA394375994 | TBC1D24 | c.436A>T (p.Ile146Phe) n.618A>T | |
16 | g.2496585T>A | CA394375995 | TBC1D24 | c.437T>A (p.Ile146Asn) n.619T>A | |
16 | g.2496585T>C | CA394375997 | TBC1D24 | c.437T>C (p.Ile146Thr) n.619T>C | |
16 | g.2496585T>G | CA394375998 | TBC1D24 | c.437T>G (p.Ile146Ser) n.619T>G | |
16 | g.2496589_2496606del | CA2631209959 | TBC1D24 | c.441_458del (p.Asp147_Phe152del) n.623_640del | gnomAD v4 |
16 | g.2496586C>A | CA493366702 | TBC1D24 | c.438C>A (p.Ile146=) n.620C>A | gnomAD v4 |
16 | g.2496586C= | CA2202259881 | TBC1D24 | c.438C= (p.Ile146=) n.620C= | |
16 | g.2496586C>G | CA394376000 | TBC1D24 | c.438C>G (p.Ile146Met) n.620C>G | |
16 | g.2496586C>T | CA7843999 | TBC1D24 | c.438C>T (p.Ile146=) n.620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496587G>A | CA7844000 | TBC1D24 | c.439G>A (p.Asp147Asn) n.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496587G>C | CA339785 | TBC1D24 | c.439G>C (p.Asp147His) n.621G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496587G= | CA2202259882 | TBC1D24 | c.439G= (p.Asp147=) n.621G= | |
16 | g.2496587G>T | CA394376002 | TBC1D24 | c.439G>T (p.Asp147Tyr) n.621G>T | gnomAD v4 |
16 | g.2496588A= | CA2202259883 | TBC1D24 | c.440A= (p.Asp147=) n.622A= | |
16 | g.2496588A>C | CA394376007 | TBC1D24 | c.440A>C (p.Asp147Ala) n.622A>C | |
16 | g.2496588A>G | CA7844001 | TBC1D24 | c.440A>G (p.Asp147Gly) n.622A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496588A>T | CA394376010 | TBC1D24 | c.440A>T (p.Asp147Val) n.622A>T | |
16 | g.2496589C>A | CA394376012 | TBC1D24 | c.441C>A (p.Asp147Glu) n.623C>A | |
16 | g.2496589C= | CA2202259884 | TBC1D24 | c.441C= (p.Asp147=) n.623C= | |
16 | g.2496589C>G | CA394376014 | TBC1D24 | c.441C>G (p.Asp147Glu) n.623C>G | dbSNP gnomAD v4 |
16 | g.2496589C>T | CA302805 | TBC1D24 | c.441C>T (p.Asp147=) n.623C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496590G>A | CA7844002 | TBC1D24 | c.442G>A (p.Glu148Lys) n.624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496590G>C | CA394376018 | TBC1D24 | c.442G>C (p.Glu148Gln) n.624G>C | |
16 | g.2496590G= | CA2202259885 | TBC1D24 | c.442G= (p.Glu148=) n.624G= | |
16 | g.2496590G>T | CA7844003 | TBC1D24 | c.442G>T (p.Glu148Ter) n.624G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496591A>C | CA394376020 | TBC1D24 | c.443A>C (p.Glu148Ala) n.625A>C | |
16 | g.2496591A>G | CA394376023 | TBC1D24 | c.443A>G (p.Glu148Gly) n.625A>G | |
16 | g.2496591A>T | CA394376025 | TBC1D24 | c.443A>T (p.Glu148Val) n.625A>T | |
16 | g.2496592G>A | CA7844004 | TBC1D24 | c.444G>A (p.Glu148=) n.626G>A | dbSNP ExAC gnomAD v2 |
16 | g.2496592G>C | CA394376028 | TBC1D24 | c.444G>C (p.Glu148Asp) n.626G>C | |
16 | g.2496592G= | CA2202259886 | TBC1D24 | c.444G= (p.Glu148=) n.626G= | |
16 | g.2496592G>T | CA394376026 | TBC1D24 | c.444G>T (p.Glu148Asp) n.626G>T | |
16 | g.2496593G>A | CA394376031 | TBC1D24 | c.445G>A (p.Ala149Thr) n.627G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496593G>C | CA394376033 | TBC1D24 | c.445G>C (p.Ala149Pro) n.627G>C | |
16 | g.2496593G= | CA2202259887 | TBC1D24 | c.445G= (p.Ala149=) n.627G= | |
16 | g.2496593G>T | CA394376035 | TBC1D24 | c.445G>T (p.Ala149Ser) n.627G>T | gnomAD v4 |
16 | g.2496594C>A | CA394376036 | TBC1D24 | c.446C>A (p.Ala149Asp) n.628C>A | dbSNP gnomAD v4 |
16 | g.2496594C= | CA2202259888 | TBC1D24 | c.446C= (p.Ala149=) n.628C= | |
16 | g.2496594C>G | CA394376038 | TBC1D24 | c.446C>G (p.Ala149Gly) n.628C>G | |
16 | g.2496594C>T | CA394376039 | TBC1D24 | c.446C>T (p.Ala149Val) n.628C>T | ClinVar dbSNP |
16 | g.2496595C>A | CA493366708 | TBC1D24 | c.447C>A (p.Ala149=) n.629C>A | dbSNP |
16 | g.2496595C= | CA2202259889 | TBC1D24 | c.447C= (p.Ala149=) n.629C= | |
16 | g.2496595C>G | CA493366711 | TBC1D24 | c.447C>G (p.Ala149=) n.629C>G | |
16 | g.2496595C>T | CA7844005 | TBC1D24 | c.447C>T (p.Ala149=) n.629C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2496596G>A | CA7844006 | TBC1D24 | c.448G>A (p.Glu150Lys) n.630G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496596G>C | CA394376043 | TBC1D24 | c.448G>C (p.Glu150Gln) n.630G>C | gnomAD v4 |
16 | g.2496596G= | CA2202259890 | TBC1D24 | c.448G= (p.Glu150=) n.630G= | |
16 | g.2496596G>T | CA394376045 | TBC1D24 | c.448G>T (p.Glu150Ter) n.630G>T | |
16 | g.2496597A>C | CA394376047 | TBC1D24 | c.449A>C (p.Glu150Ala) n.631A>C | |
16 | g.2496597A>G | CA394376048 | TBC1D24 | c.449A>G (p.Glu150Gly) n.631A>G | |
16 | g.2496597A>T | CA394376049 | TBC1D24 | c.449A>T (p.Glu150Val) n.631A>T | |
16 | g.2496598G>A | CA493366716 | TBC1D24 | c.450G>A (p.Glu150=) n.632G>A | gnomAD v4 |
16 | g.2496598G>C | CA394376051 | TBC1D24 | c.450G>C (p.Glu150Asp) n.632G>C | |
16 | g.2496598G>T | CA394376052 | TBC1D24 | c.450G>T (p.Glu150Asp) n.632G>T | gnomAD v4 |
16 | g.2496599T>A | CA394376055 | TBC1D24 | c.451T>A (p.Cys151Ser) n.633T>A | |
16 | g.2496599T>C | CA394376057 | TBC1D24 | c.451T>C (p.Cys151Arg) n.633T>C | |
16 | g.2496599T>G | CA394376056 | TBC1D24 | c.451T>G (p.Cys151Gly) n.633T>G | |
16 | g.2496600G>A | CA394376059 | TBC1D24 | c.452G>A (p.Cys151Tyr) n.634G>A | gnomAD v4 |
16 | g.2496600G>C | CA394376064 | TBC1D24 | c.452G>C (p.Cys151Ser) n.634G>C | |
16 | g.2496600G= | CA2202259891 | TBC1D24 | c.452G= (p.Cys151=) n.634G= | |
16 | g.2496600G>T | CA394376062 | TBC1D24 | c.452G>T (p.Cys151Phe) n.634G>T | dbSNP |
16 | g.2496601C>A | CA394376067 | TBC1D24 | c.453C>A (p.Cys151Ter) n.635C>A | |
16 | g.2496601C= | CA2202259892 | TBC1D24 | c.453C= (p.Cys151=) n.635C= | |
16 | g.2496601C>G | CA394376068 | TBC1D24 | c.453C>G (p.Cys151Trp) n.635C>G | |
16 | g.2496601C>T | CA493366720 | TBC1D24 | c.453C>T (p.Cys151=) n.635C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496602T>A | CA394376071 | TBC1D24 | c.454T>A (p.Phe152Ile) n.636T>A | |
16 | g.2496602T>C | CA394376073 | TBC1D24 | c.454T>C (p.Phe152Leu) n.636T>C | |
16 | g.2496602T>G | CA394376074 | TBC1D24 | c.454T>G (p.Phe152Val) n.636T>G | |
16 | g.2496603T>A | CA394376077 | TBC1D24 | c.455T>A (p.Phe152Tyr) n.637T>A | gnomAD v4 |
16 | g.2496603T>C | CA394376079 | TBC1D24 | c.455T>C (p.Phe152Ser) n.637T>C | ClinVar |
16 | g.2496603T>G | CA394376081 | TBC1D24 | c.455T>G (p.Phe152Cys) n.637T>G | |
16 | g.2496604C>A | CA394376083 | TBC1D24 | c.456C>A (p.Phe152Leu) n.638C>A | |
16 | g.2496604C= | CA2202259893 | TBC1D24 | c.456C= (p.Phe152=) n.638C= | |
16 | g.2496604C>G | CA394376085 | TBC1D24 | c.456C>G (p.Phe152Leu) n.638C>G | |
16 | g.2496604C>T | CA493366724 | TBC1D24 | c.456C>T (p.Phe152=) n.638C>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496605G>A | CA319022 | TBC1D24 | c.457G>A (p.Glu153Lys) n.639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496605G>C | CA394376088 | TBC1D24 | c.457G>C (p.Glu153Gln) n.639G>C | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496605G= | CA2202259894 | TBC1D24 | c.457G= (p.Glu153=) n.639G= | |
16 | g.2496605G>T | CA394376089 | TBC1D24 | c.457G>T (p.Glu153Ter) n.639G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496606A= | CA2202259895 | TBC1D24 | c.458A= (p.Glu153=) n.640A= | |
16 | g.2496606A>C | CA394376094 | TBC1D24 | c.458A>C (p.Glu153Ala) n.640A>C | ClinVar dbSNP |
16 | g.2496606A>G | CA394376092 | TBC1D24 | c.458A>G (p.Glu153Gly) n.640A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496606A>T | CA394376091 | TBC1D24 | c.458A>T (p.Glu153Val) n.640A>T | |
16 | g.2496607G>A | CA493366727 | TBC1D24 | c.459G>A (p.Glu153=) n.641G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496607G>C | CA394376096 | TBC1D24 | c.459G>C (p.Glu153Asp) n.641G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496607G= | CA2202259896 | TBC1D24 | c.459G= (p.Glu153=) n.641G= | |
16 | g.2496607G>T | CA394376097 | TBC1D24 | c.459G>T (p.Glu153Asp) n.641G>T | gnomAD v4 |
16 | g.2496608A>C | CA394376099 | TBC1D24 | c.460A>C (p.Lys154Gln) n.642A>C | |
16 | g.2496608A>G | CA394376100 | TBC1D24 | c.460A>G (p.Lys154Glu) n.642A>G | |
16 | g.2496608A>T | CA394376101 | TBC1D24 | c.460A>T (p.Lys154Ter) n.642A>T | |
16 | g.2496609A>C | CA394376103 | TBC1D24 | c.461A>C (p.Lys154Thr) n.643A>C | |
16 | g.2496609A>G | CA394376104 | TBC1D24 | c.461A>G (p.Lys154Arg) n.643A>G | ClinVar |
16 | g.2496609A>T | CA394376105 | TBC1D24 | c.461A>T (p.Lys154Met) n.643A>T | gnomAD v4 |
16 | g.2496609_2496624delinsAGGCCTGCCGCATCCT | CA2202259897 | TBC1D24 | c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=) n.643_658delinsAGGCCTGCCGCATCCT | |
16 | g.2496610G>A | CA493366731 | TBC1D24 | c.462G>A (p.Lys154=) n.644G>A | |
16 | g.2496610G>C | CA394376107 | TBC1D24 | c.462G>C (p.Lys154Asn) n.644G>C | |
16 | g.2496610G= | CA2202259898 | TBC1D24 | c.462G= (p.Lys154=) n.644G= | |
16 | g.2496610G>T | CA394376109 | TBC1D24 | c.462G>T (p.Lys154Asn) n.644G>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496617_2496631del | CA620709060 | TBC1D24 | c.469_483del (p.Arg157_Cys161del) n.651_665del | dbSNP gnomAD v2 |
16 | g.2496611G>A | CA394376111 | TBC1D24 | c.463G>A (p.Ala155Thr) n.645G>A | |
16 | g.2496611G>C | CA394376112 | TBC1D24 | c.463G>C (p.Ala155Pro) n.645G>C | |
16 | g.2496611G>T | CA394376114 | TBC1D24 | c.463G>T (p.Ala155Ser) n.645G>T | gnomAD v4 |
16 | g.2496612C>A | CA394376118 | TBC1D24 | c.464C>A (p.Ala155Asp) n.646C>A | |
16 | g.2496612C= | CA2202259899 | TBC1D24 | c.464C= (p.Ala155=) n.646C= | |
16 | g.2496612C>G | CA394376119 | TBC1D24 | c.464C>G (p.Ala155Gly) n.646C>G | ClinVar |
16 | g.2496612C>T | CA394376116 | TBC1D24 | c.464C>T (p.Ala155Val) n.646C>T | dbSNP gnomAD v2 COSMIC |
16 | g.2496613C>A | CA493366736 | TBC1D24 | c.465C>A (p.Ala155=) n.647C>A | |
16 | g.2496613C= | CA2202259900 | TBC1D24 | c.465C= (p.Ala155=) n.647C= | |
16 | g.2496613C>G | CA493366737 | TBC1D24 | c.465C>G (p.Ala155=) n.647C>G | gnomAD v4 |
16 | g.2496613C>T | CA493366738 | TBC1D24 | c.465C>T (p.Ala155=) n.647C>T | ClinVar dbSNP |
16 | g.2496614T>A | CA394376120 | TBC1D24 | c.466T>A (p.Cys156Ser) n.648T>A | |
16 | g.2496614T>C | CA394376122 | TBC1D24 | c.466T>C (p.Cys156Arg) n.648T>C | |
16 | g.2496614T>G | CA394376124 | TBC1D24 | c.466T>G (p.Cys156Gly) n.648T>G | |
16 | g.2496615G>A | CA394376126 | TBC1D24 | c.467G>A (p.Cys156Tyr) n.649G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496615G>C | CA394376128 | TBC1D24 | c.467G>C (p.Cys156Ser) n.649G>C | gnomAD v4 |
16 | g.2496615G= | CA2202259901 | TBC1D24 | c.467G= (p.Cys156=) n.649G= | |
16 | g.2496615G>T | CA394376130 | TBC1D24 | c.467G>T (p.Cys156Phe) n.649G>T | gnomAD v4 |
16 | g.2496616C>A | CA344790 | TBC1D24 | c.468C>A (p.Cys156Ter) n.650C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496616C= | CA2202259902 | TBC1D24 | c.468C= (p.Cys156=) n.650C= | |
16 | g.2496616C>G | CA394376132 | TBC1D24 | c.468C>G (p.Cys156Trp) n.650C>G | |
16 | g.2496616C>T | CA493366741 | TBC1D24 | c.468C>T (p.Cys156=) n.650C>T | gnomAD v4 |
16 | g.2496617C>A | CA394376135 | TBC1D24 | c.469C>A (p.Arg157Ser) n.651C>A | |
16 | g.2496617C= | CA2202259903 | TBC1D24 | c.469C= (p.Arg157=) n.651C= | |
16 | g.2496617C>G | CA394376137 | TBC1D24 | c.469C>G (p.Arg157Gly) n.651C>G | |
16 | g.2496617C>T | CA276809626 | TBC1D24 | c.469C>T (p.Arg157Cys) n.651C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496618G>A | CA394376144 | TBC1D24 | c.470G>A (p.Arg157His) n.652G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496618G>C | CA394376142 | TBC1D24 | c.470G>C (p.Arg157Pro) n.652G>C | |
16 | g.2496618G= | CA2202259904 | TBC1D24 | c.470G= (p.Arg157=) n.652G= | |
16 | g.2496618G>T | CA394376141 | TBC1D24 | c.470G>T (p.Arg157Leu) n.652G>T | gnomAD v4 |
16 | g.2496619C>A | CA493366744 | TBC1D24 | c.471C>A (p.Arg157=) n.653C>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496619C= | CA2202259905 | TBC1D24 | c.471C= (p.Arg157=) n.653C= | |
16 | g.2496619C>G | CA493366745 | TBC1D24 | c.471C>G (p.Arg157=) n.653C>G | |
16 | g.2496619C>T | CA493366746 | TBC1D24 | c.471C>T (p.Arg157=) n.653C>T | |
16 | g.2496620A= | CA2202259906 | TBC1D24 | c.472A= (p.Ile158=) n.654A= | |
16 | g.2496620A>C | CA394376147 | TBC1D24 | c.472A>C (p.Ile158Leu) n.654A>C | |
16 | g.2496620A>G | CA394376149 | TBC1D24 | c.472A>G (p.Ile158Val) n.654A>G | dbSNP gnomAD v4 |
16 | g.2496620A>T | CA394376151 | TBC1D24 | c.472A>T (p.Ile158Phe) n.654A>T | |
16 | g.2496621T>A | CA394376153 | TBC1D24 | c.473T>A (p.Ile158Asn) n.655T>A | |
16 | g.2496621T>C | CA394376155 | TBC1D24 | c.473T>C (p.Ile158Thr) n.655T>C | |
16 | g.2496621T>G | CA394376156 | TBC1D24 | c.473T>G (p.Ile158Ser) n.655T>G | |
16 | g.2496621_2496622delinsTC | CA2202259907 | TBC1D24 | c.473_474delinsTC (p.Ile158=) n.655_656delinsTC | |
16 | g.2496622C>A | CA493366750 | TBC1D24 | c.474C>A (p.Ile158=) n.656C>A | dbSNP |
16 | g.2496622C= | CA2202259908 | TBC1D24 | c.474C= (p.Ile158=) n.656C= | |
16 | g.2496622C>G | CA394376160 | TBC1D24 | c.474C>G (p.Ile158Met) n.656C>G | |
16 | g.2496622C>T | CA493366754 | TBC1D24 | c.474C>T (p.Ile158=) n.656C>T | COSMIC |
16 | g.2496623del | CA319047 | TBC1D24 | c.475del (p.Leu159TrpfsTer10) n.657del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496623C>A | CA394376165 | TBC1D24 | c.475C>A (p.Leu159Met) n.657C>A | |
16 | g.2496623C>G | CA394376167 | TBC1D24 | c.475C>G (p.Leu159Val) n.657C>G | |
16 | g.2496623C>T | CA493366755 | TBC1D24 | c.475C>T (p.Leu159=) n.657C>T | |
16 | g.2496624T>A | CA394376171 | TBC1D24 | c.476T>A (p.Leu159Gln) n.658T>A | |
16 | g.2496624T>C | CA053438 | TBC1D24 | c.476T>C (p.Leu159Pro) n.658T>C | ClinVar dbSNP gnomAD v4 |
16 | g.2496624T>G | CA394376169 | TBC1D24 | c.476T>G (p.Leu159Arg) n.658T>G | |
16 | g.2496624T= | CA2202259909 | TBC1D24 | c.476T= (p.Leu159=) n.658T= | |
16 | g.2496625G>A | CA493366759 | TBC1D24 | c.477G>A (p.Leu159=) n.659G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496625G>C | CA7844007 | TBC1D24 | c.477G>C (p.Leu159=) n.659G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496625G= | CA2202259910 | TBC1D24 | c.477G= (p.Leu159=) n.659G= | |
16 | g.2496625G>T | CA493366757 | TBC1D24 | c.477G>T (p.Leu159=) n.659G>T | gnomAD v4 |
16 | g.2496626G>A | CA394376177 | TBC1D24 | c.478G>A (p.Ala160Thr) n.660G>A | dbSNP gnomAD v4 |
16 | g.2496626G>C | CA394376173 | TBC1D24 | c.478G>C (p.Ala160Pro) n.660G>C | |
16 | g.2496626G= | CA2202259911 | TBC1D24 | c.478G= (p.Ala160=) n.660G= | |
16 | g.2496626G>T | CA394376176 | TBC1D24 | c.478G>T (p.Ala160Ser) n.660G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496627C>A | CA394376179 | TBC1D24 | c.479C>A (p.Ala160Asp) n.661C>A | |
16 | g.2496627C= | CA2202259912 | TBC1D24 | c.479C= (p.Ala160=) n.661C= | |
16 | g.2496627C>G | CA394376181 | TBC1D24 | c.479C>G (p.Ala160Gly) n.661C>G | |
16 | g.2496627C>T | CA394376183 | TBC1D24 | c.479C>T (p.Ala160Val) n.661C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496628C>A | CA493366765 | TBC1D24 | c.480C>A (p.Ala160=) n.662C>A | |
16 | g.2496628C>G | CA493366766 | TBC1D24 | c.480C>G (p.Ala160=) n.662C>G | |
16 | g.2496628C>T | CA493366767 | TBC1D24 | c.480C>T (p.Ala160=) n.662C>T | |
16 | g.2496629T>A | CA394376186 | TBC1D24 | c.481T>A (p.Cys161Ser) n.663T>A | |
16 | g.2496629T>C | CA394376187 | TBC1D24 | c.481T>C (p.Cys161Arg) n.663T>C | |
16 | g.2496629T>G | CA394376189 | TBC1D24 | c.481T>G (p.Cys161Gly) n.663T>G | |
16 | g.2496630G>A | CA394376192 | TBC1D24 | c.482G>A (p.Cys161Tyr) n.664G>A | gnomAD v4 |
16 | g.2496630G>C | CA394376194 | TBC1D24 | c.482G>C (p.Cys161Ser) n.664G>C | |
16 | g.2496630G= | CA2202259913 | TBC1D24 | c.482G= (p.Cys161=) n.664G= | |
16 | g.2496630G>T | CA7844008 | TBC1D24 | c.482G>T (p.Cys161Phe) n.664G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C>A | CA7844009 | TBC1D24 | c.483C>A (p.Cys161Ter) n.665C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496631C= | CA2202259914 | TBC1D24 | c.483C= (p.Cys161=) n.665C= | |
16 | g.2496631C>G | CA394376198 | TBC1D24 | c.483C>G (p.Cys161Trp) n.665C>G | |
16 | g.2496631C>T | CA493366769 | TBC1D24 | c.483C>T (p.Cys161=) n.665C>T | gnomAD v4 COSMIC |
16 | g.2496632A>C | CA394376201 | TBC1D24 | c.484A>C (p.Asn162His) n.666A>C | |
16 | g.2496632A>G | CA394376203 | TBC1D24 | c.484A>G (p.Asn162Asp) n.666A>G | |
16 | g.2496632A>T | CA394376202 | TBC1D24 | c.484A>T (p.Asn162Tyr) n.666A>T | |
16 | g.2496633A= | CA2202259915 | TBC1D24 | c.485A= (p.Asn162=) n.667A= | |
16 | g.2496633A>C | CA394376207 | TBC1D24 | c.485A>C (p.Asn162Thr) n.667A>C | |
16 | g.2496633A>G | CA7844010 | TBC1D24 | c.485A>G (p.Asn162Ser) n.667A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496633A>T | CA394376209 | TBC1D24 | c.485A>T (p.Asn162Ile) n.667A>T | |
16 | g.2496634T>A | CA10647225 | TBC1D24 | c.486T>A (p.Asn162Lys) n.668T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496634T>C | CA493366773 | TBC1D24 | c.486T>C (p.Asn162=) n.668T>C | |
16 | g.2496634T>G | CA394376212 | TBC1D24 | c.486T>G (p.Asn162Lys) n.668T>G | |
16 | g.2496634T= | CA2202259916 | TBC1D24 | c.486T= (p.Asn162=) n.668T= | |
16 | g.2496635G>A | CA394376214 | TBC1D24 | c.487G>A (p.Asp163Asn) n.669G>A | |
16 | g.2496635G>C | CA394376216 | TBC1D24 | c.487G>C (p.Asp163His) n.669G>C | |
16 | g.2496635G>T | CA394376217 | TBC1D24 | c.487G>T (p.Asp163Tyr) n.669G>T | ClinVar |
16 | g.2496636A>C | CA394376219 | TBC1D24 | c.488A>C (p.Asp163Ala) n.670A>C | |
16 | g.2496636A>G | CA394376221 | TBC1D24 | c.488A>G (p.Asp163Gly) n.670A>G | COSMIC |
16 | g.2496636A>T | CA394376223 | TBC1D24 | c.488A>T (p.Asp163Val) n.670A>T | |
16 | g.2496637C>A | CA394376224 | TBC1D24 | c.489C>A (p.Asp163Glu) n.671C>A | gnomAD v4 |
16 | g.2496637C>G | CA394376225 | TBC1D24 | c.489C>G (p.Asp163Glu) n.671C>G | |
16 | g.2496637C>T | CA493366852 | TBC1D24 | c.489C>T (p.Asp163=) n.671C>T | ClinVar |
16 | g.2496638C>A | CA394376229 | TBC1D24 | c.490C>A (p.Pro164Thr) n.672C>A | |
16 | g.2496638C= | CA2202259917 | TBC1D24 | c.490C= (p.Pro164=) n.672C= | |
16 | g.2496638C>G | CA394376230 | TBC1D24 | c.490C>G (p.Pro164Ala) n.672C>G | |
16 | g.2496638C>T | CA394376233 | TBC1D24 | c.490C>T (p.Pro164Ser) n.672C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496639C>A | CA394376235 | TBC1D24 | c.491C>A (p.Pro164His) n.673C>A | |
16 | g.2496639C>G | CA394376237 | TBC1D24 | c.491C>G (p.Pro164Arg) n.673C>G | |
16 | g.2496639C>T | CA394376238 | TBC1D24 | c.491C>T (p.Pro164Leu) n.673C>T | gnomAD v4 |
16 | g.2496640C>A | CA493366855 | TBC1D24 | c.492C>A (p.Pro164=) n.674C>A | gnomAD v4 |
16 | g.2496640C= | CA2202259918 | TBC1D24 | c.492C= (p.Pro164=) n.674C= | |
16 | g.2496640C>G | CA7844012 | TBC1D24 | c.492C>G (p.Pro164=) n.674C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496640C>T | CA7844011 | TBC1D24 | c.492C>T (p.Pro164=) n.674C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496640_2496641del | CA2544183399 | TBC1D24 | c.492_493del (p.Gly165GlnfsTer12) n.674_675del | |
16 | g.2496641G>A | CA318989 | TBC1D24 | c.493G>A (p.Gly165Ser) n.675G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496641G>C | CA394376243 | TBC1D24 | c.493G>C (p.Gly165Arg) n.675G>C | gnomAD v4 |
16 | g.2496641G= | CA2202259919 | TBC1D24 | c.493G= (p.Gly165=) n.675G= | |
16 | g.2496641G>T | CA394376245 | TBC1D24 | c.493G>T (p.Gly165Cys) n.675G>T | ClinVar dbSNP gnomAD v4 |
16 | g.2496642G>A | CA394376247 | TBC1D24 | c.494G>A (p.Gly165Asp) n.676G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496642G>C | CA394376248 | TBC1D24 | c.494G>C (p.Gly165Ala) n.676G>C | |
16 | g.2496642G= | CA2202259920 | TBC1D24 | c.494G= (p.Gly165=) n.676G= | |
16 | g.2496642G>T | CA394376250 | TBC1D24 | c.494G>T (p.Gly165Val) n.676G>T | gnomAD v4 |
16 | g.2496642_2496643insTC | CA2529358813 | TBC1D24 | c.494_495insTC (p.Arg166ProfsTer4) n.676_677insTC | |
16 | g.2496643C>A | CA493366859 | TBC1D24 | c.495C>A (p.Gly165=) n.677C>A | gnomAD v4 |
16 | g.2496643C= | CA2202259921 | TBC1D24 | c.495C= (p.Gly165=) n.677C= | |
16 | g.2496643C>G | CA7844013 | TBC1D24 | c.495C>G (p.Gly165=) n.677C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496643C>T | CA493366860 | TBC1D24 | c.495C>T (p.Gly165=) n.677C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2496644A>C | CA493366861 | TBC1D24 | c.496A>C (p.Arg166=) n.678A>C | |
16 | g.2496644A>G | CA394376254 | TBC1D24 | c.496A>G (p.Arg166Gly) n.678A>G | |
16 | g.2496644A>T | CA394376256 | TBC1D24 | c.496A>T (p.Arg166Trp) n.678A>T | |
16 | g.2496644dup | CA2202259922 | TBC1D24 | c.496dup (p.Arg166LysfsTer12) n.678dup | dbSNP |
16 | g.2496645G>A | CA394376259 | TBC1D24 | c.497G>A (p.Arg166Lys) n.679G>A | |
16 | g.2496645G>C | CA394376261 | TBC1D24 | c.497G>C (p.Arg166Thr) n.679G>C | |
16 | g.2496645G>T | CA394376263 | TBC1D24 | c.497G>T (p.Arg166Met) n.679G>T | |
16 | g.2496646G>A | CA276809627 | TBC1D24 | c.498G>A (p.Arg166=) n.680G>A | dbSNP |
16 | g.2496646G>C | CA394376265 | TBC1D24 | c.498G>C (p.Arg166Ser) n.680G>C | |
16 | g.2496646G= | CA2202259923 | TBC1D24 | c.498G= (p.Arg166=) n.680G= | |
16 | g.2496646G>T | CA394376267 | TBC1D24 | c.498G>T (p.Arg166Ser) n.680G>T | |
16 | g.2496647A= | CA2202259924 | TBC1D24 | c.499A= (p.Arg167=) n.681A= | |
16 | g.2496647A>C | CA7844014 | TBC1D24 | c.499A>C (p.Arg167=) n.681A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2496647A>G | CA394376270 | TBC1D24 | c.499A>G (p.Arg167Gly) n.681A>G | |
16 | g.2496647A>T | CA394376272 | TBC1D24 | c.499A>T (p.Arg167Trp) n.681A>T | dbSNP |
16 | g.2496648G>A | CA394376273 | TBC1D24 | c.500G>A (p.Arg167Lys) n.682G>A | |
16 | g.2496648G>C | CA394376274 | TBC1D24 | c.500G>C (p.Arg167Thr) n.682G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2496648G= | CA2202259925 | TBC1D24 | c.500G= (p.Arg167=) n.682G= | |
16 | g.2496648G>T | CA394376275 | TBC1D24 | c.500G>T (p.Arg167Met) n.682G>T | |
16 | g.2496649G>A | CA493366867 | TBC1D24 | c.501G>A (p.Arg167=) n.683G>A | dbSNP gnomAD v2 |
16 | g.2496649G>C | CA394376279 | TBC1D24 | c.501G>C (p.Arg167Ser) n.683G>C | |
16 | g.2496649G= | CA2202259926 | TBC1D24 | c.501G= (p.Arg167=) n.683G= | |
16 | g.2496649G>T | CA394376277 | TBC1D24 | c.501G>T (p.Arg167Ser) n.683G>T | gnomAD v4 |
16 | g.2496650C>A | CA394376281 | TBC1D24 | c.502C>A (p.Leu168Met) n.684C>A | |
16 | g.2496650C>G | CA394376283 | TBC1D24 | c.502C>G (p.Leu168Val) n.684C>G | |
16 | g.2496650C>T | CA493366869 | TBC1D24 | c.502C>T (p.Leu168=) n.684C>T | |
16 | g.2496651T>A | CA394376285 | TBC1D24 | c.503T>A (p.Leu168Gln) n.685T>A | |
16 | g.2496651T>C | CA7844015 | TBC1D24 | c.503T>C (p.Leu168Pro) n.685T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2496651T>G | CA394376287 | TBC1D24 | c.503T>G (p.Leu168Arg) n.685T>G | |
16 | g.2496651T= | CA2202259927 | TBC1D24 | c.503T= (p.Leu168=) n.685T= | |
16 | g.2496652G>A | CA493366873 | TBC1D24 | c.504G>A (p.Leu168=) n.686G>A | |
16 | g.2496652G>C | CA493366876 | TBC1D24 | c.504G>C (p.Leu168=) n.686G>C | |
16 | g.2496652G>T | CA493366878 | TBC1D24 | c.504G>T (p.Leu168=) n.686G>T | gnomAD v4 |