Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119414336G>A | CA2554030 | ARHGAP31 | c.2407G>A (p.Gly803Ser) c.2314G>A (p.Gly772Ser) c.2347G>A (p.Gly783Ser) c.1915G>A (p.Gly639Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414336G>C | CA354051072 | ARHGAP31 | c.2407G>C (p.Gly803Arg) c.2314G>C (p.Gly772Arg) c.2347G>C (p.Gly783Arg) c.1915G>C (p.Gly639Arg) | dbSNP |
3 | g.119414336G= | CA1396548656 | ARHGAP31 | c.2407G= (p.Gly803=) c.2314G= (p.Gly772=) c.2347G= (p.Gly783=) c.1915G= (p.Gly639=) | |
3 | g.119414336G>T | CA354051075 | ARHGAP31 | c.2407G>T (p.Gly803Cys) c.2314G>T (p.Gly772Cys) c.2347G>T (p.Gly783Cys) c.1915G>T (p.Gly639Cys) | |
3 | g.119414337G>A | CA354051078 | ARHGAP31 | c.2408G>A (p.Gly803Asp) c.2315G>A (p.Gly772Asp) c.2348G>A (p.Gly783Asp) c.1916G>A (p.Gly639Asp) | |
3 | g.119414337G>C | CA354051081 | ARHGAP31 | c.2408G>C (p.Gly803Ala) c.2315G>C (p.Gly772Ala) c.2348G>C (p.Gly783Ala) c.1916G>C (p.Gly639Ala) | |
3 | g.119414337G>T | CA354051082 | ARHGAP31 | c.2408G>T (p.Gly803Val) c.2315G>T (p.Gly772Val) c.2348G>T (p.Gly783Val) c.1916G>T (p.Gly639Val) | |
3 | g.119414338C>A | CA435412016 | ARHGAP31 | c.2409C>A (p.Gly803=) c.2316C>A (p.Gly772=) c.2349C>A (p.Gly783=) c.1917C>A (p.Gly639=) | |
3 | g.119414338C= | CA1396548657 | ARHGAP31 | c.2409C= (p.Gly803=) c.2316C= (p.Gly772=) c.2349C= (p.Gly783=) c.1917C= (p.Gly639=) | |
3 | g.119414338C>G | CA2554031 | ARHGAP31 | c.2409C>G (p.Gly803=) c.2316C>G (p.Gly772=) c.2349C>G (p.Gly783=) c.1917C>G (p.Gly639=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414338C>T | CA435412019 | ARHGAP31 | c.2409C>T (p.Gly803=) c.2316C>T (p.Gly772=) c.2349C>T (p.Gly783=) c.1917C>T (p.Gly639=) | gnomAD v4 |
3 | g.119414339C>A | CA354051085 | ARHGAP31 | c.2410C>A (p.Pro804Thr) c.2317C>A (p.Pro773Thr) c.2350C>A (p.Pro784Thr) c.1918C>A (p.Pro640Thr) | ClinVar dbSNP |
3 | g.119414339C>G | CA354051086 | ARHGAP31 | c.2410C>G (p.Pro804Ala) c.2317C>G (p.Pro773Ala) c.2350C>G (p.Pro784Ala) c.1918C>G (p.Pro640Ala) | |
3 | g.119414339C>T | CA354051087 | ARHGAP31 | c.2410C>T (p.Pro804Ser) c.2317C>T (p.Pro773Ser) c.2350C>T (p.Pro784Ser) c.1918C>T (p.Pro640Ser) | |
3 | g.119414340C>A | CA354051093 | ARHGAP31 | c.2411C>A (p.Pro804Gln) c.2318C>A (p.Pro773Gln) c.2351C>A (p.Pro784Gln) c.1919C>A (p.Pro640Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414340C= | CA1396548658 | ARHGAP31 | c.2411C= (p.Pro804=) c.2318C= (p.Pro773=) c.2351C= (p.Pro784=) c.1919C= (p.Pro640=) | |
3 | g.119414340C>G | CA2554032 | ARHGAP31 | c.2411C>G (p.Pro804Arg) c.2318C>G (p.Pro773Arg) c.2351C>G (p.Pro784Arg) c.1919C>G (p.Pro640Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414340C>T | CA2554033 | ARHGAP31 | c.2411C>T (p.Pro804Leu) c.2318C>T (p.Pro773Leu) c.2351C>T (p.Pro784Leu) c.1919C>T (p.Pro640Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.119414341G>A | CA239935 | ARHGAP31 | c.2412G>A (p.Pro804=) c.2319G>A (p.Pro773=) c.2352G>A (p.Pro784=) c.1920G>A (p.Pro640=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414341G>C | CA435412027 | ARHGAP31 | c.2412G>C (p.Pro804=) c.2319G>C (p.Pro773=) c.2352G>C (p.Pro784=) c.1920G>C (p.Pro640=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414341G= | CA1396548659 | ARHGAP31 | c.2412G= (p.Pro804=) c.2319G= (p.Pro773=) c.2352G= (p.Pro784=) c.1920G= (p.Pro640=) | |
3 | g.119414341G>T | CA435412028 | ARHGAP31 | c.2412G>T (p.Pro804=) c.2319G>T (p.Pro773=) c.2352G>T (p.Pro784=) c.1920G>T (p.Pro640=) | gnomAD v3 gnomAD v4 |
3 | g.119414342dup | CA81697656 | ARHGAP31 | c.2413dup (p.Glu805GlyfsTer25) c.2320dup (p.Glu774GlyfsTer25) c.2353dup (p.Glu785GlyfsTer25) c.1921dup (p.Glu641GlyfsTer25) | dbSNP |
3 | g.119414342G>A | CA354051104 | ARHGAP31 | c.2413G>A (p.Glu805Lys) c.2320G>A (p.Glu774Lys) c.2353G>A (p.Glu785Lys) c.1921G>A (p.Glu641Lys) | |
3 | g.119414342G>C | CA354051099 | ARHGAP31 | c.2413G>C (p.Glu805Gln) c.2320G>C (p.Glu774Gln) c.2353G>C (p.Glu785Gln) c.1921G>C (p.Glu641Gln) | dbSNP |
3 | g.119414342G= | CA1396548660 | ARHGAP31 | c.2413G= (p.Glu805=) c.2320G= (p.Glu774=) c.2353G= (p.Glu785=) c.1921G= (p.Glu641=) | |
3 | g.119414342G>T | CA354051101 | ARHGAP31 | c.2413G>T (p.Glu805Ter) c.2320G>T (p.Glu774Ter) c.2353G>T (p.Glu785Ter) c.1921G>T (p.Glu641Ter) | |
3 | g.119414343A= | CA1396548661 | ARHGAP31 | c.2414A= (p.Glu805=) c.2321A= (p.Glu774=) c.2354A= (p.Glu785=) c.1922A= (p.Glu641=) | |
3 | g.119414343A>C | CA354051107 | ARHGAP31 | c.2414A>C (p.Glu805Ala) c.2321A>C (p.Glu774Ala) c.2354A>C (p.Glu785Ala) c.1922A>C (p.Glu641Ala) | |
3 | g.119414343A>G | CA354051114 | ARHGAP31 | c.2414A>G (p.Glu805Gly) c.2321A>G (p.Glu774Gly) c.2354A>G (p.Glu785Gly) c.1922A>G (p.Glu641Gly) | |
3 | g.119414343A>T | CA2554034 | ARHGAP31 | c.2414A>T (p.Glu805Val) c.2321A>T (p.Glu774Val) c.2354A>T (p.Glu785Val) c.1922A>T (p.Glu641Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414344A>C | CA354051117 | ARHGAP31 | c.2415A>C (p.Glu805Asp) c.2322A>C (p.Glu774Asp) c.2355A>C (p.Glu785Asp) c.1923A>C (p.Glu641Asp) | |
3 | g.119414344A>G | CA435412035 | ARHGAP31 | c.2415A>G (p.Glu805=) c.2322A>G (p.Glu774=) c.2355A>G (p.Glu785=) c.1923A>G (p.Glu641=) | |
3 | g.119414344A>T | CA354051119 | ARHGAP31 | c.2415A>T (p.Glu805Asp) c.2322A>T (p.Glu774Asp) c.2355A>T (p.Glu785Asp) c.1923A>T (p.Glu641Asp) | |
3 | g.119414345A>C | CA435412036 | ARHGAP31 | c.2416A>C (p.Arg806=) c.2323A>C (p.Arg775=) c.2356A>C (p.Arg786=) c.1924A>C (p.Arg642=) | |
3 | g.119414345A>G | CA354051122 | ARHGAP31 | c.2416A>G (p.Arg806Gly) c.2323A>G (p.Arg775Gly) c.2356A>G (p.Arg786Gly) c.1924A>G (p.Arg642Gly) | |
3 | g.119414345A>T | CA354051124 | ARHGAP31 | c.2416A>T (p.Arg806Ter) c.2323A>T (p.Arg775Ter) c.2356A>T (p.Arg786Ter) c.1924A>T (p.Arg642Ter) | |
3 | g.119414346G>A | CA354051128 | ARHGAP31 | c.2417G>A (p.Arg806Lys) c.2324G>A (p.Arg775Lys) c.2357G>A (p.Arg786Lys) c.1925G>A (p.Arg642Lys) | |
3 | g.119414346G>C | CA2554035 | ARHGAP31 | c.2417G>C (p.Arg806Thr) c.2324G>C (p.Arg775Thr) c.2357G>C (p.Arg786Thr) c.1925G>C (p.Arg642Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414346G= | CA1396548662 | ARHGAP31 | c.2417G= (p.Arg806=) c.2324G= (p.Arg775=) c.2357G= (p.Arg786=) c.1925G= (p.Arg642=) | |
3 | g.119414346G>T | CA354051131 | ARHGAP31 | c.2417G>T (p.Arg806Ile) c.2324G>T (p.Arg775Ile) c.2357G>T (p.Arg786Ile) c.1925G>T (p.Arg642Ile) | |
3 | g.119414347A= | CA1396548663 | ARHGAP31 | c.2418A= (p.Arg806=) c.2325A= (p.Arg775=) c.2358A= (p.Arg786=) c.1926A= (p.Arg642=) | |
3 | g.119414347A>C | CA354051137 | ARHGAP31 | c.2418A>C (p.Arg806Ser) c.2325A>C (p.Arg775Ser) c.2358A>C (p.Arg786Ser) c.1926A>C (p.Arg642Ser) | |
3 | g.119414347A>G | CA2554036 | ARHGAP31 | c.2418A>G (p.Arg806=) c.2325A>G (p.Arg775=) c.2358A>G (p.Arg786=) c.1926A>G (p.Arg642=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.119414347A>T | CA354051134 | ARHGAP31 | c.2418A>T (p.Arg806Ser) c.2325A>T (p.Arg775Ser) c.2358A>T (p.Arg786Ser) c.1926A>T (p.Arg642Ser) | |
3 | g.119414348G>A | CA354051142 | ARHGAP31 | c.2419G>A (p.Glu807Lys) c.2326G>A (p.Glu776Lys) c.2359G>A (p.Glu787Lys) c.1927G>A (p.Glu643Lys) | |
3 | g.119414348G>C | CA354051143 | ARHGAP31 | c.2419G>C (p.Glu807Gln) c.2326G>C (p.Glu776Gln) c.2359G>C (p.Glu787Gln) c.1927G>C (p.Glu643Gln) | |
3 | g.119414348G>T | CA354051146 | ARHGAP31 | c.2419G>T (p.Glu807Ter) c.2326G>T (p.Glu776Ter) c.2359G>T (p.Glu787Ter) c.1927G>T (p.Glu643Ter) | |
3 | g.119414349A>C | CA354051149 | ARHGAP31 | c.2420A>C (p.Glu807Ala) c.2327A>C (p.Glu776Ala) c.2360A>C (p.Glu787Ala) c.1928A>C (p.Glu643Ala) | |
3 | g.119414349A>G | CA354051151 | ARHGAP31 | c.2420A>G (p.Glu807Gly) c.2327A>G (p.Glu776Gly) c.2360A>G (p.Glu787Gly) c.1928A>G (p.Glu643Gly) | |
3 | g.119414349A>T | CA354051154 | ARHGAP31 | c.2420A>T (p.Glu807Val) c.2327A>T (p.Glu776Val) c.2360A>T (p.Glu787Val) c.1928A>T (p.Glu643Val) | |
3 | g.119414350A= | CA1396548664 | ARHGAP31 | c.2421A= (p.Glu807=) c.2328A= (p.Glu776=) c.2361A= (p.Glu787=) c.1929A= (p.Glu643=) | |
3 | g.119414350A>C | CA354051157 | ARHGAP31 | c.2421A>C (p.Glu807Asp) c.2328A>C (p.Glu776Asp) c.2361A>C (p.Glu787Asp) c.1929A>C (p.Glu643Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414350A>G | CA435412052 | ARHGAP31 | c.2421A>G (p.Glu807=) c.2328A>G (p.Glu776=) c.2361A>G (p.Glu787=) c.1929A>G (p.Glu643=) | |
3 | g.119414350A>T | CA354051160 | ARHGAP31 | c.2421A>T (p.Glu807Asp) c.2328A>T (p.Glu776Asp) c.2361A>T (p.Glu787Asp) c.1929A>T (p.Glu643Asp) | |
3 | g.119414351G>A | CA2554037 | ARHGAP31 | c.2422G>A (p.Asp808Asn) c.2329G>A (p.Asp777Asn) c.2362G>A (p.Asp788Asn) c.1930G>A (p.Asp644Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414351G>C | CA354051164 | ARHGAP31 | c.2422G>C (p.Asp808His) c.2329G>C (p.Asp777His) c.2362G>C (p.Asp788His) c.1930G>C (p.Asp644His) | |
3 | g.119414351G= | CA1396548665 | ARHGAP31 | c.2422G= (p.Asp808=) c.2329G= (p.Asp777=) c.2362G= (p.Asp788=) c.1930G= (p.Asp644=) | |
3 | g.119414351G>T | CA354051167 | ARHGAP31 | c.2422G>T (p.Asp808Tyr) c.2329G>T (p.Asp777Tyr) c.2362G>T (p.Asp788Tyr) c.1930G>T (p.Asp644Tyr) | |
3 | g.119414352A>C | CA354051177 | ARHGAP31 | c.2423A>C (p.Asp808Ala) c.2330A>C (p.Asp777Ala) c.2363A>C (p.Asp788Ala) c.1931A>C (p.Asp644Ala) | |
3 | g.119414352A>G | CA354051173 | ARHGAP31 | c.2423A>G (p.Asp808Gly) c.2330A>G (p.Asp777Gly) c.2363A>G (p.Asp788Gly) c.1931A>G (p.Asp644Gly) | |
3 | g.119414352A>T | CA354051171 | ARHGAP31 | c.2423A>T (p.Asp808Val) c.2330A>T (p.Asp777Val) c.2363A>T (p.Asp788Val) c.1931A>T (p.Asp644Val) | |
3 | g.119414353C>A | CA354051179 | ARHGAP31 | c.2424C>A (p.Asp808Glu) c.2331C>A (p.Asp777Glu) c.2364C>A (p.Asp788Glu) c.1932C>A (p.Asp644Glu) | |
3 | g.119414353C>G | CA354051182 | ARHGAP31 | c.2424C>G (p.Asp808Glu) c.2331C>G (p.Asp777Glu) c.2364C>G (p.Asp788Glu) c.1932C>G (p.Asp644Glu) | |
3 | g.119414353C>T | CA435412058 | ARHGAP31 | c.2424C>T (p.Asp808=) c.2331C>T (p.Asp777=) c.2364C>T (p.Asp788=) c.1932C>T (p.Asp644=) | |
3 | g.119414354T>A | CA354051185 | ARHGAP31 | c.2425T>A (p.Ser809Thr) c.2332T>A (p.Ser778Thr) c.2365T>A (p.Ser789Thr) c.1933T>A (p.Ser645Thr) | |
3 | g.119414354T>C | CA354051187 | ARHGAP31 | c.2425T>C (p.Ser809Pro) c.2332T>C (p.Ser778Pro) c.2365T>C (p.Ser789Pro) c.1933T>C (p.Ser645Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414354T>G | CA354051189 | ARHGAP31 | c.2425T>G (p.Ser809Ala) c.2332T>G (p.Ser778Ala) c.2365T>G (p.Ser789Ala) c.1933T>G (p.Ser645Ala) | |
3 | g.119414354T= | CA1396548666 | ARHGAP31 | c.2425T= (p.Ser809=) c.2332T= (p.Ser778=) c.2365T= (p.Ser789=) c.1933T= (p.Ser645=) | |
3 | g.119414355C>A | CA354051196 | ARHGAP31 | c.2426C>A (p.Ser809Ter) c.2333C>A (p.Ser778Ter) c.2366C>A (p.Ser789Ter) c.1934C>A (p.Ser645Ter) | |
3 | g.119414355C= | CA1396548667 | ARHGAP31 | c.2426C= (p.Ser809=) c.2333C= (p.Ser778=) c.2366C= (p.Ser789=) c.1934C= (p.Ser645=) | |
3 | g.119414355C>G | CA354051193 | ARHGAP31 | c.2426C>G (p.Ser809Ter) c.2333C>G (p.Ser778Ter) c.2366C>G (p.Ser789Ter) c.1934C>G (p.Ser645Ter) | |
3 | g.119414355C>T | CA2554038 | ARHGAP31 | c.2426C>T (p.Ser809Leu) c.2333C>T (p.Ser778Leu) c.2366C>T (p.Ser789Leu) c.1934C>T (p.Ser645Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414356A>C | CA435412062 | ARHGAP31 | c.2427A>C (p.Ser809=) c.2334A>C (p.Ser778=) c.2367A>C (p.Ser789=) c.1935A>C (p.Ser645=) | |
3 | g.119414356A>G | CA435412064 | ARHGAP31 | c.2427A>G (p.Ser809=) c.2334A>G (p.Ser778=) c.2367A>G (p.Ser789=) c.1935A>G (p.Ser645=) | |
3 | g.119414356A>T | CA435412063 | ARHGAP31 | c.2427A>T (p.Ser809=) c.2334A>T (p.Ser778=) c.2367A>T (p.Ser789=) c.1935A>T (p.Ser645=) | |
3 | g.119414357T>A | CA354051198 | ARHGAP31 | c.2428T>A (p.Ser810Thr) c.2335T>A (p.Ser779Thr) c.2368T>A (p.Ser790Thr) c.1936T>A (p.Ser646Thr) | |
3 | g.119414357T>C | CA354051200 | ARHGAP31 | c.2428T>C (p.Ser810Pro) c.2335T>C (p.Ser779Pro) c.2368T>C (p.Ser790Pro) c.1936T>C (p.Ser646Pro) | |
3 | g.119414357T>G | CA354051201 | ARHGAP31 | c.2428T>G (p.Ser810Ala) c.2335T>G (p.Ser779Ala) c.2368T>G (p.Ser790Ala) c.1936T>G (p.Ser646Ala) | |
3 | g.119414358C>A | CA354051202 | ARHGAP31 | c.2429C>A (p.Ser810Tyr) c.2336C>A (p.Ser779Tyr) c.2369C>A (p.Ser790Tyr) c.1937C>A (p.Ser646Tyr) | |
3 | g.119414358C= | CA1396548668 | ARHGAP31 | c.2429C= (p.Ser810=) c.2336C= (p.Ser779=) c.2369C= (p.Ser790=) c.1937C= (p.Ser646=) | |
3 | g.119414358C>G | CA2554039 | ARHGAP31 | c.2429C>G (p.Ser810Cys) c.2336C>G (p.Ser779Cys) c.2369C>G (p.Ser790Cys) c.1937C>G (p.Ser646Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414358C>T | CA354051203 | ARHGAP31 | c.2429C>T (p.Ser810Phe) c.2336C>T (p.Ser779Phe) c.2369C>T (p.Ser790Phe) c.1937C>T (p.Ser646Phe) | |
3 | g.119414359C>A | CA435412067 | ARHGAP31 | c.2430C>A (p.Ser810=) c.2337C>A (p.Ser779=) c.2370C>A (p.Ser790=) c.1938C>A (p.Ser646=) | |
3 | g.119414359C>G | CA435412068 | ARHGAP31 | c.2430C>G (p.Ser810=) c.2337C>G (p.Ser779=) c.2370C>G (p.Ser790=) c.1938C>G (p.Ser646=) | |
3 | g.119414359C>T | CA435412070 | ARHGAP31 | c.2430C>T (p.Ser810=) c.2337C>T (p.Ser779=) c.2370C>T (p.Ser790=) c.1938C>T (p.Ser646=) | |
3 | g.119414360A= | CA1396548669 | ARHGAP31 | c.2431A= (p.Arg811=) c.2338A= (p.Arg780=) c.2371A= (p.Arg791=) c.1939A= (p.Arg647=) | |
3 | g.119414360A>C | CA2554040 | ARHGAP31 | c.2431A>C (p.Arg811=) c.2338A>C (p.Arg780=) c.2371A>C (p.Arg791=) c.1939A>C (p.Arg647=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414360A>G | CA354051209 | ARHGAP31 | c.2431A>G (p.Arg811Gly) c.2338A>G (p.Arg780Gly) c.2371A>G (p.Arg791Gly) c.1939A>G (p.Arg647Gly) | |
3 | g.119414360A>T | CA354051207 | ARHGAP31 | c.2431A>T (p.Arg811Trp) c.2338A>T (p.Arg780Trp) c.2371A>T (p.Arg791Trp) c.1939A>T (p.Arg647Trp) | |
3 | g.119414361G>A | CA81697706 | ARHGAP31 | c.2432G>A (p.Arg811Lys) c.2339G>A (p.Arg780Lys) c.2372G>A (p.Arg791Lys) c.1940G>A (p.Arg647Lys) | dbSNP |
3 | g.119414361G>C | CA354051213 | ARHGAP31 | c.2432G>C (p.Arg811Thr) c.2339G>C (p.Arg780Thr) c.2372G>C (p.Arg791Thr) c.1940G>C (p.Arg647Thr) | |
3 | g.119414361G= | CA1396548670 | ARHGAP31 | c.2432G= (p.Arg811=) c.2339G= (p.Arg780=) c.2372G= (p.Arg791=) c.1940G= (p.Arg647=) | |
3 | g.119414361G>T | CA354051215 | ARHGAP31 | c.2432G>T (p.Arg811Met) c.2339G>T (p.Arg780Met) c.2372G>T (p.Arg791Met) c.1940G>T (p.Arg647Met) | |
3 | g.119414362G>A | CA435412076 | ARHGAP31 | c.2433G>A (p.Arg811=) c.2340G>A (p.Arg780=) c.2373G>A (p.Arg791=) c.1941G>A (p.Arg647=) | |
3 | g.119414362G>C | CA354051219 | ARHGAP31 | c.2433G>C (p.Arg811Ser) c.2340G>C (p.Arg780Ser) c.2373G>C (p.Arg791Ser) c.1941G>C (p.Arg647Ser) | |
3 | g.119414362G>T | CA354051221 | ARHGAP31 | c.2433G>T (p.Arg811Ser) c.2340G>T (p.Arg780Ser) c.2373G>T (p.Arg791Ser) c.1941G>T (p.Arg647Ser) | |
3 | g.119414363A>C | CA354051224 | ARHGAP31 | c.2434A>C (p.Lys812Gln) c.2341A>C (p.Lys781Gln) c.2374A>C (p.Lys792Gln) c.1942A>C (p.Lys648Gln) | |
3 | g.119414363A>G | CA354051226 | ARHGAP31 | c.2434A>G (p.Lys812Glu) c.2341A>G (p.Lys781Glu) c.2374A>G (p.Lys792Glu) c.1942A>G (p.Lys648Glu) | |
3 | g.119414363A>T | CA354051229 | ARHGAP31 | c.2434A>T (p.Lys812Ter) c.2341A>T (p.Lys781Ter) c.2374A>T (p.Lys792Ter) c.1942A>T (p.Lys648Ter) | |
3 | g.119414365del | CA2667110272 | ARHGAP31 | c.2436del (p.Lys812AsnfsTer2) c.2343del (p.Lys781AsnfsTer2) c.2376del (p.Lys792AsnfsTer2) c.1944del (p.Lys648AsnfsTer2) | gnomAD v4 |
3 | g.119414364A>C | CA354051231 | ARHGAP31 | c.2435A>C (p.Lys812Thr) c.2342A>C (p.Lys781Thr) c.2375A>C (p.Lys792Thr) c.1943A>C (p.Lys648Thr) | |
3 | g.119414364A>G | CA354051234 | ARHGAP31 | c.2435A>G (p.Lys812Arg) c.2342A>G (p.Lys781Arg) c.2375A>G (p.Lys792Arg) c.1943A>G (p.Lys648Arg) | |
3 | g.119414364A>T | CA354051238 | ARHGAP31 | c.2435A>T (p.Lys812Ile) c.2342A>T (p.Lys781Ile) c.2375A>T (p.Lys792Ile) c.1943A>T (p.Lys648Ile) | gnomAD v4 |
3 | g.119414365A>C | CA354051243 | ARHGAP31 | c.2436A>C (p.Lys812Asn) c.2343A>C (p.Lys781Asn) c.2376A>C (p.Lys792Asn) c.1944A>C (p.Lys648Asn) | |
3 | g.119414365A>G | CA435412083 | ARHGAP31 | c.2436A>G (p.Lys812=) c.2343A>G (p.Lys781=) c.2376A>G (p.Lys792=) c.1944A>G (p.Lys648=) | gnomAD v4 |
3 | g.119414365A>T | CA354051241 | ARHGAP31 | c.2436A>T (p.Lys812Asn) c.2343A>T (p.Lys781Asn) c.2376A>T (p.Lys792Asn) c.1944A>T (p.Lys648Asn) | |
3 | g.119414366T>A | CA354051247 | ARHGAP31 | c.2437T>A (p.Leu813Met) c.2344T>A (p.Leu782Met) c.2377T>A (p.Leu793Met) c.1945T>A (p.Leu649Met) | |
3 | g.119414366T>C | CA81697710 | ARHGAP31 | c.2437T>C (p.Leu813=) c.2344T>C (p.Leu782=) c.2377T>C (p.Leu793=) c.1945T>C (p.Leu649=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414366T>G | CA354051249 | ARHGAP31 | c.2437T>G (p.Leu813Val) c.2344T>G (p.Leu782Val) c.2377T>G (p.Leu793Val) c.1945T>G (p.Leu649Val) | |
3 | g.119414366T= | CA1396548671 | ARHGAP31 | c.2437T= (p.Leu813=) c.2344T= (p.Leu782=) c.2377T= (p.Leu793=) c.1945T= (p.Leu649=) | |
3 | g.119414367T>A | CA354051251 | ARHGAP31 | c.2438T>A (p.Leu813Ter) c.2345T>A (p.Leu782Ter) c.2378T>A (p.Leu793Ter) c.1946T>A (p.Leu649Ter) | |
3 | g.119414367T>C | CA2554041 | ARHGAP31 | c.2438T>C (p.Leu813Ser) c.2345T>C (p.Leu782Ser) c.2378T>C (p.Leu793Ser) c.1946T>C (p.Leu649Ser) | dbSNP ExAC gnomAD v2 |
3 | g.119414367T>G | CA354051269 | ARHGAP31 | c.2438T>G (p.Leu813Trp) c.2345T>G (p.Leu782Trp) c.2378T>G (p.Leu793Trp) c.1946T>G (p.Leu649Trp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414367T= | CA1396548672 | ARHGAP31 | c.2438T= (p.Leu813=) c.2345T= (p.Leu782=) c.2378T= (p.Leu793=) c.1946T= (p.Leu649=) | |
3 | g.119414368G>A | CA435412087 | ARHGAP31 | c.2439G>A (p.Leu813=) c.2346G>A (p.Leu782=) c.2379G>A (p.Leu793=) c.1947G>A (p.Leu649=) | gnomAD v4 |
3 | g.119414368G>C | CA354051272 | ARHGAP31 | c.2439G>C (p.Leu813Phe) c.2346G>C (p.Leu782Phe) c.2379G>C (p.Leu793Phe) c.1947G>C (p.Leu649Phe) | |
3 | g.119414368G>T | CA354051276 | ARHGAP31 | c.2439G>T (p.Leu813Phe) c.2346G>T (p.Leu782Phe) c.2379G>T (p.Leu793Phe) c.1947G>T (p.Leu649Phe) | |
3 | g.119414369A>C | CA435412091 | ARHGAP31 | c.2440A>C (p.Arg814=) c.2347A>C (p.Arg783=) c.2380A>C (p.Arg794=) c.1948A>C (p.Arg650=) | |
3 | g.119414369A>G | CA354051280 | ARHGAP31 | c.2440A>G (p.Arg814Gly) c.2347A>G (p.Arg783Gly) c.2380A>G (p.Arg794Gly) c.1948A>G (p.Arg650Gly) | |
3 | g.119414369A>T | CA354051283 | ARHGAP31 | c.2440A>T (p.Arg814Trp) c.2347A>T (p.Arg783Trp) c.2380A>T (p.Arg794Trp) c.1948A>T (p.Arg650Trp) | |
3 | g.119414370G>A | CA354051292 | ARHGAP31 | c.2441G>A (p.Arg814Lys) c.2348G>A (p.Arg783Lys) c.2381G>A (p.Arg794Lys) c.1949G>A (p.Arg650Lys) | dbSNP gnomAD v2 |
3 | g.119414370G>C | CA354051287 | ARHGAP31 | c.2441G>C (p.Arg814Thr) c.2348G>C (p.Arg783Thr) c.2381G>C (p.Arg794Thr) c.1949G>C (p.Arg650Thr) | |
3 | g.119414370G= | CA1396548673 | ARHGAP31 | c.2441G= (p.Arg814=) c.2348G= (p.Arg783=) c.2381G= (p.Arg794=) c.1949G= (p.Arg650=) | |
3 | g.119414370G>T | CA354051290 | ARHGAP31 | c.2441G>T (p.Arg814Met) c.2348G>T (p.Arg783Met) c.2381G>T (p.Arg794Met) c.1949G>T (p.Arg650Met) | |
3 | g.119414371G>A | CA435412094 | ARHGAP31 | c.2442G>A (p.Arg814=) c.2349G>A (p.Arg783=) c.2382G>A (p.Arg794=) c.1950G>A (p.Arg650=) | |
3 | g.119414371G>C | CA354051294 | ARHGAP31 | c.2442G>C (p.Arg814Ser) c.2349G>C (p.Arg783Ser) c.2382G>C (p.Arg794Ser) c.1950G>C (p.Arg650Ser) | |
3 | g.119414371G= | CA1396548674 | ARHGAP31 | c.2442G= (p.Arg814=) c.2349G= (p.Arg783=) c.2382G= (p.Arg794=) c.1950G= (p.Arg650=) | |
3 | g.119414371G>T | CA354051296 | ARHGAP31 | c.2442G>T (p.Arg814Ser) c.2349G>T (p.Arg783Ser) c.2382G>T (p.Arg794Ser) c.1950G>T (p.Arg650Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414371_119414372delinsTT | CA2695199265 | ARHGAP31 | c.2442_2443delinsTT (p.Arg814_Thr815delinsSerSer) c.2349_2350delinsTT (p.Arg783_Thr784delinsSerSer) c.2382_2383delinsTT (p.Arg794_Thr795delinsSerSer) c.1950_1951delinsTT (p.Arg650_Thr651delinsSerSer) | ClinVar |
3 | g.119414372A= | CA1396548675 | ARHGAP31 | c.2443A= (p.Thr815=) c.2350A= (p.Thr784=) c.2383A= (p.Thr795=) c.1951A= (p.Thr651=) | |
3 | g.119414372A>C | CA354051298 | ARHGAP31 | c.2443A>C (p.Thr815Pro) c.2350A>C (p.Thr784Pro) c.2383A>C (p.Thr795Pro) c.1951A>C (p.Thr651Pro) | |
3 | g.119414372A>G | CA354051300 | ARHGAP31 | c.2443A>G (p.Thr815Ala) c.2350A>G (p.Thr784Ala) c.2383A>G (p.Thr795Ala) c.1951A>G (p.Thr651Ala) | |
3 | g.119414372A>T | CA354051302 | ARHGAP31 | c.2443A>T (p.Thr815Ser) c.2350A>T (p.Thr784Ser) c.2383A>T (p.Thr795Ser) c.1951A>T (p.Thr651Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414375_119414384del | CA2577942209 | ARHGAP31 | c.2446_2455del (p.Asp816Ter) c.2353_2362del (p.Asp785Ter) c.2386_2395del (p.Asp796Ter) c.1954_1963del (p.Asp652Ter) | |
3 | g.119414373C>A | CA354051314 | ARHGAP31 | c.2444C>A (p.Thr815Lys) c.2351C>A (p.Thr784Lys) c.2384C>A (p.Thr795Lys) c.1952C>A (p.Thr651Lys) | |
3 | g.119414373C>G | CA354051317 | ARHGAP31 | c.2444C>G (p.Thr815Arg) c.2351C>G (p.Thr784Arg) c.2384C>G (p.Thr795Arg) c.1952C>G (p.Thr651Arg) | |
3 | g.119414373C>T | CA354051316 | ARHGAP31 | c.2444C>T (p.Thr815Ile) c.2351C>T (p.Thr784Ile) c.2384C>T (p.Thr795Ile) c.1952C>T (p.Thr651Ile) | |
3 | g.119414374A>C | CA435412100 | ARHGAP31 | c.2445A>C (p.Thr815=) c.2352A>C (p.Thr784=) c.2385A>C (p.Thr795=) c.1953A>C (p.Thr651=) | |
3 | g.119414374A>G | CA435412101 | ARHGAP31 | c.2445A>G (p.Thr815=) c.2352A>G (p.Thr784=) c.2385A>G (p.Thr795=) c.1953A>G (p.Thr651=) | |
3 | g.119414374A>T | CA435412102 | ARHGAP31 | c.2445A>T (p.Thr815=) c.2352A>T (p.Thr784=) c.2385A>T (p.Thr795=) c.1953A>T (p.Thr651=) | |
3 | g.119414375G>A | CA354051321 | ARHGAP31 | c.2446G>A (p.Asp816Asn) c.2353G>A (p.Asp785Asn) c.2386G>A (p.Asp796Asn) c.1954G>A (p.Asp652Asn) | |
3 | g.119414375G>C | CA354051322 | ARHGAP31 | c.2446G>C (p.Asp816His) c.2353G>C (p.Asp785His) c.2386G>C (p.Asp796His) c.1954G>C (p.Asp652His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414375G= | CA1396548676 | ARHGAP31 | c.2446G= (p.Asp816=) c.2353G= (p.Asp785=) c.2386G= (p.Asp796=) c.1954G= (p.Asp652=) | |
3 | g.119414375G>T | CA354051325 | ARHGAP31 | c.2446G>T (p.Asp816Tyr) c.2353G>T (p.Asp785Tyr) c.2386G>T (p.Asp796Tyr) c.1954G>T (p.Asp652Tyr) | |
3 | g.119414376A>C | CA354051328 | ARHGAP31 | c.2447A>C (p.Asp816Ala) c.2354A>C (p.Asp785Ala) c.2387A>C (p.Asp796Ala) c.1955A>C (p.Asp652Ala) | |
3 | g.119414376A>G | CA354051330 | ARHGAP31 | c.2447A>G (p.Asp816Gly) c.2354A>G (p.Asp785Gly) c.2387A>G (p.Asp796Gly) c.1955A>G (p.Asp652Gly) | |
3 | g.119414376A>T | CA354051332 | ARHGAP31 | c.2447A>T (p.Asp816Val) c.2354A>T (p.Asp785Val) c.2387A>T (p.Asp796Val) c.1955A>T (p.Asp652Val) | gnomAD v4 |
3 | g.119414377T>A | CA354051335 | ARHGAP31 | c.2448T>A (p.Asp816Glu) c.2355T>A (p.Asp785Glu) c.2388T>A (p.Asp796Glu) c.1956T>A (p.Asp652Glu) | |
3 | g.119414377T>C | CA435412110 | ARHGAP31 | c.2448T>C (p.Asp816=) c.2355T>C (p.Asp785=) c.2388T>C (p.Asp796=) c.1956T>C (p.Asp652=) | |
3 | g.119414377T>G | CA354051338 | ARHGAP31 | c.2448T>G (p.Asp816Glu) c.2355T>G (p.Asp785Glu) c.2388T>G (p.Asp796Glu) c.1956T>G (p.Asp652Glu) | ClinVar gnomAD v4 |
3 | g.119414378C>A | CA354051340 | ARHGAP31 | c.2449C>A (p.Leu817Ile) c.2356C>A (p.Leu786Ile) c.2389C>A (p.Leu797Ile) c.1957C>A (p.Leu653Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414378C= | CA1396548677 | ARHGAP31 | c.2449C= (p.Leu817=) c.2356C= (p.Leu786=) c.2389C= (p.Leu797=) c.1957C= (p.Leu653=) | |
3 | g.119414378C>G | CA2554042 | ARHGAP31 | c.2449C>G (p.Leu817Val) c.2356C>G (p.Leu786Val) c.2389C>G (p.Leu797Val) c.1957C>G (p.Leu653Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414378C>T | CA354051348 | ARHGAP31 | c.2449C>T (p.Leu817Phe) c.2356C>T (p.Leu786Phe) c.2389C>T (p.Leu797Phe) c.1957C>T (p.Leu653Phe) | |
3 | g.119414379T>A | CA354051351 | ARHGAP31 | c.2450T>A (p.Leu817His) c.2357T>A (p.Leu786His) c.2390T>A (p.Leu797His) c.1958T>A (p.Leu653His) | |
3 | g.119414379T>C | CA354051353 | ARHGAP31 | c.2450T>C (p.Leu817Pro) c.2357T>C (p.Leu786Pro) c.2390T>C (p.Leu797Pro) c.1958T>C (p.Leu653Pro) | |
3 | g.119414379T>G | CA354051352 | ARHGAP31 | c.2450T>G (p.Leu817Arg) c.2357T>G (p.Leu786Arg) c.2390T>G (p.Leu797Arg) c.1958T>G (p.Leu653Arg) | |
3 | g.119414380C>A | CA435412116 | ARHGAP31 | c.2451C>A (p.Leu817=) c.2358C>A (p.Leu786=) c.2391C>A (p.Leu797=) c.1959C>A (p.Leu653=) | COSMIC |
3 | g.119414380C>G | CA435412118 | ARHGAP31 | c.2451C>G (p.Leu817=) c.2358C>G (p.Leu786=) c.2391C>G (p.Leu797=) c.1959C>G (p.Leu653=) | |
3 | g.119414380C>T | CA435412119 | ARHGAP31 | c.2451C>T (p.Leu817=) c.2358C>T (p.Leu786=) c.2391C>T (p.Leu797=) c.1959C>T (p.Leu653=) | gnomAD v4 |
3 | g.119414380_119414381insAA | CA2758108463 | ARHGAP31 | c.2451_2452insAA (p.Tyr818AsnfsTer3) c.2358_2359insAA (p.Tyr787AsnfsTer3) c.2391_2392insAA (p.Tyr798AsnfsTer3) c.1959_1960insAA (p.Tyr654AsnfsTer3) | |
3 | g.119414381T>A | CA354051354 | ARHGAP31 | c.2452T>A (p.Tyr818Asn) c.2359T>A (p.Tyr787Asn) c.2392T>A (p.Tyr798Asn) c.1960T>A (p.Tyr654Asn) | |
3 | g.119414381T>C | CA354051356 | ARHGAP31 | c.2452T>C (p.Tyr818His) c.2359T>C (p.Tyr787His) c.2392T>C (p.Tyr798His) c.1960T>C (p.Tyr654His) | |
3 | g.119414381T>G | CA354051357 | ARHGAP31 | c.2452T>G (p.Tyr818Asp) c.2359T>G (p.Tyr787Asp) c.2392T>G (p.Tyr798Asp) c.1960T>G (p.Tyr654Asp) | |
3 | g.119414382A= | CA1396548678 | ARHGAP31 | c.2453A= (p.Tyr818=) c.2360A= (p.Tyr787=) c.2393A= (p.Tyr798=) c.1961A= (p.Tyr654=) | |
3 | g.119414382A>C | CA354051360 | ARHGAP31 | c.2453A>C (p.Tyr818Ser) c.2360A>C (p.Tyr787Ser) c.2393A>C (p.Tyr798Ser) c.1961A>C (p.Tyr654Ser) | |
3 | g.119414382A>G | CA81697716 | ARHGAP31 | c.2453A>G (p.Tyr818Cys) c.2360A>G (p.Tyr787Cys) c.2393A>G (p.Tyr798Cys) c.1961A>G (p.Tyr654Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414382A>T | CA354051363 | ARHGAP31 | c.2453A>T (p.Tyr818Phe) c.2360A>T (p.Tyr787Phe) c.2393A>T (p.Tyr798Phe) c.1961A>T (p.Tyr654Phe) | |
3 | g.119414383C>A | CA354051366 | ARHGAP31 | c.2454C>A (p.Tyr818Ter) c.2361C>A (p.Tyr787Ter) c.2394C>A (p.Tyr798Ter) c.1962C>A (p.Tyr654Ter) | |
3 | g.119414383C= | CA1396548679 | ARHGAP31 | c.2454C= (p.Tyr818=) c.2361C= (p.Tyr787=) c.2394C= (p.Tyr798=) c.1962C= (p.Tyr654=) | |
3 | g.119414383C>G | CA354051369 | ARHGAP31 | c.2454C>G (p.Tyr818Ter) c.2361C>G (p.Tyr787Ter) c.2394C>G (p.Tyr798Ter) c.1962C>G (p.Tyr654Ter) | |
3 | g.119414383C>T | CA435412124 | ARHGAP31 | c.2454C>T (p.Tyr818=) c.2361C>T (p.Tyr787=) c.2394C>T (p.Tyr798=) c.1962C>T (p.Tyr654=) | dbSNP |
3 | g.119414384A= | CA1396548680 | ARHGAP31 | c.2455A= (p.Ile819=) c.2362A= (p.Ile788=) c.2395A= (p.Ile799=) c.1963A= (p.Ile655=) | |
3 | g.119414384A>C | CA354051371 | ARHGAP31 | c.2455A>C (p.Ile819Leu) c.2362A>C (p.Ile788Leu) c.2395A>C (p.Ile799Leu) c.1963A>C (p.Ile655Leu) | |
3 | g.119414384A>G | CA2554044 | ARHGAP31 | c.2455A>G (p.Ile819Val) c.2362A>G (p.Ile788Val) c.2395A>G (p.Ile799Val) c.1963A>G (p.Ile655Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.119414384A>T | CA2554043 | ARHGAP31 | c.2455A>T (p.Ile819Leu) c.2362A>T (p.Ile788Leu) c.2395A>T (p.Ile799Leu) c.1963A>T (p.Ile655Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414385T>A | CA354051377 | ARHGAP31 | c.2456T>A (p.Ile819Lys) c.2363T>A (p.Ile788Lys) c.2396T>A (p.Ile799Lys) c.1964T>A (p.Ile655Lys) | |
3 | g.119414385T>C | CA354051376 | ARHGAP31 | c.2456T>C (p.Ile819Thr) c.2363T>C (p.Ile788Thr) c.2396T>C (p.Ile799Thr) c.1964T>C (p.Ile655Thr) | dbSNP gnomAD v2 |
3 | g.119414385T>G | CA354051375 | ARHGAP31 | c.2456T>G (p.Ile819Arg) c.2363T>G (p.Ile788Arg) c.2396T>G (p.Ile799Arg) c.1964T>G (p.Ile655Arg) | |
3 | g.119414385T= | CA1396548681 | ARHGAP31 | c.2456T= (p.Ile819=) c.2363T= (p.Ile788=) c.2396T= (p.Ile799=) c.1964T= (p.Ile655=) | |
3 | g.119414386A>C | CA435412126 | ARHGAP31 | c.2457A>C (p.Ile819=) c.2364A>C (p.Ile788=) c.2397A>C (p.Ile799=) c.1965A>C (p.Ile655=) | |
3 | g.119414386A>G | CA354051379 | ARHGAP31 | c.2457A>G (p.Ile819Met) c.2364A>G (p.Ile788Met) c.2397A>G (p.Ile799Met) c.1965A>G (p.Ile655Met) | |
3 | g.119414386A>T | CA435412128 | ARHGAP31 | c.2457A>T (p.Ile819=) c.2364A>T (p.Ile788=) c.2397A>T (p.Ile799=) c.1965A>T (p.Ile655=) | |
3 | g.119414387G>A | CA354051383 | ARHGAP31 | c.2458G>A (p.Asp820Asn) c.2365G>A (p.Asp789Asn) c.2398G>A (p.Asp800Asn) c.1966G>A (p.Asp656Asn) | |
3 | g.119414387G>C | CA354051385 | ARHGAP31 | c.2458G>C (p.Asp820His) c.2365G>C (p.Asp789His) c.2398G>C (p.Asp800His) c.1966G>C (p.Asp656His) | |
3 | g.119414387G>T | CA354051388 | ARHGAP31 | c.2458G>T (p.Asp820Tyr) c.2365G>T (p.Asp789Tyr) c.2398G>T (p.Asp800Tyr) c.1966G>T (p.Asp656Tyr) | |
3 | g.119414388A>C | CA354051391 | ARHGAP31 | c.2459A>C (p.Asp820Ala) c.2366A>C (p.Asp789Ala) c.2399A>C (p.Asp800Ala) c.1967A>C (p.Asp656Ala) | |
3 | g.119414388A>G | CA354051395 | ARHGAP31 | c.2459A>G (p.Asp820Gly) c.2366A>G (p.Asp789Gly) c.2399A>G (p.Asp800Gly) c.1967A>G (p.Asp656Gly) | |
3 | g.119414388A>T | CA354051397 | ARHGAP31 | c.2459A>T (p.Asp820Val) c.2366A>T (p.Asp789Val) c.2399A>T (p.Asp800Val) c.1967A>T (p.Asp656Val) | |
3 | g.119414389C>A | CA354051399 | ARHGAP31 | c.2460C>A (p.Asp820Glu) c.2367C>A (p.Asp789Glu) c.2400C>A (p.Asp800Glu) c.1968C>A (p.Asp656Glu) | |
3 | g.119414389C>G | CA354051402 | ARHGAP31 | c.2460C>G (p.Asp820Glu) c.2367C>G (p.Asp789Glu) c.2400C>G (p.Asp800Glu) c.1968C>G (p.Asp656Glu) | |
3 | g.119414389C>T | CA435412132 | ARHGAP31 | c.2460C>T (p.Asp820=) c.2367C>T (p.Asp789=) c.2400C>T (p.Asp800=) c.1968C>T (p.Asp656=) | |
3 | g.119414390C>A | CA354051405 | ARHGAP31 | c.2461C>A (p.Gln821Lys) c.2368C>A (p.Gln790Lys) c.2401C>A (p.Gln801Lys) c.1969C>A (p.Gln657Lys) | |
3 | g.119414390C>G | CA354051407 | ARHGAP31 | c.2461C>G (p.Gln821Glu) c.2368C>G (p.Gln790Glu) c.2401C>G (p.Gln801Glu) c.1969C>G (p.Gln657Glu) | |
3 | g.119414390C>T | CA354051409 | ARHGAP31 | c.2461C>T (p.Gln821Ter) c.2368C>T (p.Gln790Ter) c.2401C>T (p.Gln801Ter) c.1969C>T (p.Gln657Ter) | |
3 | g.119414391del | CA2667110273 | ARHGAP31 | c.2462del (p.Gln821ArgfsTer2) c.2369del (p.Gln790ArgfsTer2) c.2402del (p.Gln801ArgfsTer2) c.1970del (p.Gln657ArgfsTer2) | gnomAD v4 |
3 | g.119414391A>C | CA354051413 | ARHGAP31 | c.2462A>C (p.Gln821Pro) c.2369A>C (p.Gln790Pro) c.2402A>C (p.Gln801Pro) c.1970A>C (p.Gln657Pro) | |
3 | g.119414391A>G | CA354051414 | ARHGAP31 | c.2462A>G (p.Gln821Arg) c.2369A>G (p.Gln790Arg) c.2402A>G (p.Gln801Arg) c.1970A>G (p.Gln657Arg) | gnomAD v4 |
3 | g.119414391A>T | CA354051412 | ARHGAP31 | c.2462A>T (p.Gln821Leu) c.2369A>T (p.Gln790Leu) c.2402A>T (p.Gln801Leu) c.1970A>T (p.Gln657Leu) | |
3 | g.119414392G>A | CA435412138 | ARHGAP31 | c.2463G>A (p.Gln821=) c.2370G>A (p.Gln790=) c.2403G>A (p.Gln801=) c.1971G>A (p.Gln657=) | gnomAD v4 COSMIC |
3 | g.119414392G>C | CA2554045 | ARHGAP31 | c.2463G>C (p.Gln821His) c.2370G>C (p.Gln790His) c.2403G>C (p.Gln801His) c.1971G>C (p.Gln657His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414392G= | CA1396548682 | ARHGAP31 | c.2463G= (p.Gln821=) c.2370G= (p.Gln790=) c.2403G= (p.Gln801=) c.1971G= (p.Gln657=) | |
3 | g.119414392G>T | CA354051417 | ARHGAP31 | c.2463G>T (p.Gln821His) c.2370G>T (p.Gln790His) c.2403G>T (p.Gln801His) c.1971G>T (p.Gln657His) | |
3 | g.119414393C>A | CA354051420 | ARHGAP31 | c.2464C>A (p.Leu822Met) c.2371C>A (p.Leu791Met) c.2404C>A (p.Leu802Met) c.1972C>A (p.Leu658Met) | |
3 | g.119414393C>G | CA354051422 | ARHGAP31 | c.2464C>G (p.Leu822Val) c.2371C>G (p.Leu791Val) c.2404C>G (p.Leu802Val) c.1972C>G (p.Leu658Val) | ClinVar |
3 | g.119414393C>T | CA435412139 | ARHGAP31 | c.2464C>T (p.Leu822=) c.2371C>T (p.Leu791=) c.2404C>T (p.Leu802=) c.1972C>T (p.Leu658=) | |
3 | g.119414394T>A | CA354051424 | ARHGAP31 | c.2465T>A (p.Leu822Gln) c.2372T>A (p.Leu791Gln) c.2405T>A (p.Leu802Gln) c.1973T>A (p.Leu658Gln) | |
3 | g.119414394T>C | CA354051426 | ARHGAP31 | c.2465T>C (p.Leu822Pro) c.2372T>C (p.Leu791Pro) c.2405T>C (p.Leu802Pro) c.1973T>C (p.Leu658Pro) | gnomAD v4 |
3 | g.119414394T>G | CA354051429 | ARHGAP31 | c.2465T>G (p.Leu822Arg) c.2372T>G (p.Leu791Arg) c.2405T>G (p.Leu802Arg) c.1973T>G (p.Leu658Arg) | |
3 | g.119414395G>A | CA435412140 | ARHGAP31 | c.2466G>A (p.Leu822=) c.2373G>A (p.Leu791=) c.2406G>A (p.Leu802=) c.1974G>A (p.Leu658=) | |
3 | g.119414395G>C | CA435412141 | ARHGAP31 | c.2466G>C (p.Leu822=) c.2373G>C (p.Leu791=) c.2406G>C (p.Leu802=) c.1974G>C (p.Leu658=) | |
3 | g.119414395G>T | CA435412143 | ARHGAP31 | c.2466G>T (p.Leu822=) c.2373G>T (p.Leu791=) c.2406G>T (p.Leu802=) c.1974G>T (p.Leu658=) | |
3 | g.119414396A>C | CA354051438 | ARHGAP31 | c.2467A>C (p.Lys823Gln) c.2374A>C (p.Lys792Gln) c.2407A>C (p.Lys803Gln) c.1975A>C (p.Lys659Gln) | |
3 | g.119414396A>G | CA354051436 | ARHGAP31 | c.2467A>G (p.Lys823Glu) c.2374A>G (p.Lys792Glu) c.2407A>G (p.Lys803Glu) c.1975A>G (p.Lys659Glu) | |
3 | g.119414396A>T | CA354051437 | ARHGAP31 | c.2467A>T (p.Lys823Ter) c.2374A>T (p.Lys792Ter) c.2407A>T (p.Lys803Ter) c.1975A>T (p.Lys659Ter) | |
3 | g.119414397A>C | CA354051449 | ARHGAP31 | c.2468A>C (p.Lys823Thr) c.2375A>C (p.Lys792Thr) c.2408A>C (p.Lys803Thr) c.1976A>C (p.Lys659Thr) | |
3 | g.119414397A>G | CA354051457 | ARHGAP31 | c.2468A>G (p.Lys823Arg) c.2375A>G (p.Lys792Arg) c.2408A>G (p.Lys803Arg) c.1976A>G (p.Lys659Arg) | |
3 | g.119414397A>T | CA354051459 | ARHGAP31 | c.2468A>T (p.Lys823Met) c.2375A>T (p.Lys792Met) c.2408A>T (p.Lys803Met) c.1976A>T (p.Lys659Met) | |
3 | g.119414398G>A | CA435412147 | ARHGAP31 | c.2469G>A (p.Lys823=) c.2376G>A (p.Lys792=) c.2409G>A (p.Lys803=) c.1977G>A (p.Lys659=) | gnomAD v4 |
3 | g.119414398G>C | CA354051463 | ARHGAP31 | c.2469G>C (p.Lys823Asn) c.2376G>C (p.Lys792Asn) c.2409G>C (p.Lys803Asn) c.1977G>C (p.Lys659Asn) | |
3 | g.119414398G>T | CA354051465 | ARHGAP31 | c.2469G>T (p.Lys823Asn) c.2376G>T (p.Lys792Asn) c.2409G>T (p.Lys803Asn) c.1977G>T (p.Lys659Asn) | |
3 | g.119414399T>A | CA354051466 | ARHGAP31 | c.2470T>A (p.Ser824Thr) c.2377T>A (p.Ser793Thr) c.2410T>A (p.Ser804Thr) c.1978T>A (p.Ser660Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414399T>C | CA354051468 | ARHGAP31 | c.2470T>C (p.Ser824Pro) c.2377T>C (p.Ser793Pro) c.2410T>C (p.Ser804Pro) c.1978T>C (p.Ser660Pro) | |
3 | g.119414399T>G | CA354051467 | ARHGAP31 | c.2470T>G (p.Ser824Ala) c.2377T>G (p.Ser793Ala) c.2410T>G (p.Ser804Ala) c.1978T>G (p.Ser660Ala) | dbSNP |
3 | g.119414399T= | CA1396548683 | ARHGAP31 | c.2470T= (p.Ser824=) c.2377T= (p.Ser793=) c.2410T= (p.Ser804=) c.1978T= (p.Ser660=) | |
3 | g.119414400C>A | CA354051470 | ARHGAP31 | c.2471C>A (p.Ser824Tyr) c.2378C>A (p.Ser793Tyr) c.2411C>A (p.Ser804Tyr) c.1979C>A (p.Ser660Tyr) | |
3 | g.119414400C= | CA1396548684 | ARHGAP31 | c.2471C= (p.Ser824=) c.2378C= (p.Ser793=) c.2411C= (p.Ser804=) c.1979C= (p.Ser660=) | |
3 | g.119414400C>G | CA354051472 | ARHGAP31 | c.2471C>G (p.Ser824Cys) c.2378C>G (p.Ser793Cys) c.2411C>G (p.Ser804Cys) c.1979C>G (p.Ser660Cys) | |
3 | g.119414400C>T | CA354051474 | ARHGAP31 | c.2471C>T (p.Ser824Phe) c.2378C>T (p.Ser793Phe) c.2411C>T (p.Ser804Phe) c.1979C>T (p.Ser660Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.119414401C>A | CA435412153 | ARHGAP31 | c.2472C>A (p.Ser824=) c.2379C>A (p.Ser793=) c.2412C>A (p.Ser804=) c.1980C>A (p.Ser660=) | |
3 | g.119414401C>G | CA435412154 | ARHGAP31 | c.2472C>G (p.Ser824=) c.2379C>G (p.Ser793=) c.2412C>G (p.Ser804=) c.1980C>G (p.Ser660=) | |
3 | g.119414401C>T | CA435412155 | ARHGAP31 | c.2472C>T (p.Ser824=) c.2379C>T (p.Ser793=) c.2412C>T (p.Ser804=) c.1980C>T (p.Ser660=) | |
3 | g.119414402C>A | CA354051476 | ARHGAP31 | c.2473C>A (p.Gln825Lys) c.2380C>A (p.Gln794Lys) c.2413C>A (p.Gln805Lys) c.1981C>A (p.Gln661Lys) | |
3 | g.119414402C>G | CA354051478 | ARHGAP31 | c.2473C>G (p.Gln825Glu) c.2380C>G (p.Gln794Glu) c.2413C>G (p.Gln805Glu) c.1981C>G (p.Gln661Glu) | |
3 | g.119414402C>T | CA354051481 | ARHGAP31 | c.2473C>T (p.Gln825Ter) c.2380C>T (p.Gln794Ter) c.2413C>T (p.Gln805Ter) c.1981C>T (p.Gln661Ter) | |
3 | g.119414403A>C | CA354051482 | ARHGAP31 | c.2474A>C (p.Gln825Pro) c.2381A>C (p.Gln794Pro) c.2414A>C (p.Gln805Pro) c.1982A>C (p.Gln661Pro) | |
3 | g.119414403A>G | CA354051483 | ARHGAP31 | c.2474A>G (p.Gln825Arg) c.2381A>G (p.Gln794Arg) c.2414A>G (p.Gln805Arg) c.1982A>G (p.Gln661Arg) | |
3 | g.119414403A>T | CA354051484 | ARHGAP31 | c.2474A>T (p.Gln825Leu) c.2381A>T (p.Gln794Leu) c.2414A>T (p.Gln805Leu) c.1982A>T (p.Gln661Leu) | |
3 | g.119414404A= | CA1396548685 | ARHGAP31 | c.2475A= (p.Gln825=) c.2382A= (p.Gln794=) c.2415A= (p.Gln805=) c.1983A= (p.Gln661=) | |
3 | g.119414404A>C | CA354051485 | ARHGAP31 | c.2475A>C (p.Gln825His) c.2382A>C (p.Gln794His) c.2415A>C (p.Gln805His) c.1983A>C (p.Gln661His) | dbSNP gnomAD v4 |
3 | g.119414404A>G | CA435411865 | ARHGAP31 | c.2475A>G (p.Gln825=) c.2382A>G (p.Gln794=) c.2415A>G (p.Gln805=) c.1983A>G (p.Gln661=) | dbSNP gnomAD v4 |
3 | g.119414404A>T | CA2554046 | ARHGAP31 | c.2475A>T (p.Gln825His) c.2382A>T (p.Gln794His) c.2415A>T (p.Gln805His) c.1983A>T (p.Gln661His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414405G>A | CA2554047 | ARHGAP31 | c.2476G>A (p.Asp826Asn) c.2383G>A (p.Asp795Asn) c.2416G>A (p.Asp806Asn) c.1984G>A (p.Asp662Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414405G>C | CA81697744 | ARHGAP31 | c.2476G>C (p.Asp826His) c.2383G>C (p.Asp795His) c.2416G>C (p.Asp806His) c.1984G>C (p.Asp662His) | dbSNP |
3 | g.119414405G= | CA1396548686 | ARHGAP31 | c.2476G= (p.Asp826=) c.2383G= (p.Asp795=) c.2416G= (p.Asp806=) c.1984G= (p.Asp662=) | |
3 | g.119414405G>T | CA354051487 | ARHGAP31 | c.2476G>T (p.Asp826Tyr) c.2383G>T (p.Asp795Tyr) c.2416G>T (p.Asp806Tyr) c.1984G>T (p.Asp662Tyr) | |
3 | g.119414406A>C | CA354051494 | ARHGAP31 | c.2477A>C (p.Asp826Ala) c.2384A>C (p.Asp795Ala) c.2417A>C (p.Asp806Ala) c.1985A>C (p.Asp662Ala) | |
3 | g.119414406A>G | CA354051495 | ARHGAP31 | c.2477A>G (p.Asp826Gly) c.2384A>G (p.Asp795Gly) c.2417A>G (p.Asp806Gly) c.1985A>G (p.Asp662Gly) | |
3 | g.119414406A>T | CA354051496 | ARHGAP31 | c.2477A>T (p.Asp826Val) c.2384A>T (p.Asp795Val) c.2417A>T (p.Asp806Val) c.1985A>T (p.Asp662Val) | |
3 | g.119414407C>A | CA354051500 | ARHGAP31 | c.2478C>A (p.Asp826Glu) c.2385C>A (p.Asp795Glu) c.2418C>A (p.Asp806Glu) c.1986C>A (p.Asp662Glu) | |
3 | g.119414407C= | CA1396548687 | ARHGAP31 | c.2478C= (p.Asp826=) c.2385C= (p.Asp795=) c.2418C= (p.Asp806=) c.1986C= (p.Asp662=) | |
3 | g.119414407C>G | CA354051502 | ARHGAP31 | c.2478C>G (p.Asp826Glu) c.2385C>G (p.Asp795Glu) c.2418C>G (p.Asp806Glu) c.1986C>G (p.Asp662Glu) | |
3 | g.119414407C>T | CA435411875 | ARHGAP31 | c.2478C>T (p.Asp826=) c.2385C>T (p.Asp795=) c.2418C>T (p.Asp806=) c.1986C>T (p.Asp662=) | dbSNP |
3 | g.119414408A= | CA1396548688 | ARHGAP31 | c.2479A= (p.Ser827=) c.2386A= (p.Ser796=) c.2419A= (p.Ser807=) c.1987A= (p.Ser663=) | |
3 | g.119414408A>C | CA354051508 | ARHGAP31 | c.2479A>C (p.Ser827Arg) c.2386A>C (p.Ser796Arg) c.2419A>C (p.Ser807Arg) c.1987A>C (p.Ser663Arg) | |
3 | g.119414408A>G | CA2554048 | ARHGAP31 | c.2479A>G (p.Ser827Gly) c.2386A>G (p.Ser796Gly) c.2419A>G (p.Ser807Gly) c.1987A>G (p.Ser663Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414408A>T | CA354051505 | ARHGAP31 | c.2479A>T (p.Ser827Cys) c.2386A>T (p.Ser796Cys) c.2419A>T (p.Ser807Cys) c.1987A>T (p.Ser663Cys) | |
3 | g.119414409G>A | CA354051511 | ARHGAP31 | c.2480G>A (p.Ser827Asn) c.2387G>A (p.Ser796Asn) c.2420G>A (p.Ser807Asn) c.1988G>A (p.Ser663Asn) | dbSNP |
3 | g.119414409G>C | CA354051514 | ARHGAP31 | c.2480G>C (p.Ser827Thr) c.2387G>C (p.Ser796Thr) c.2420G>C (p.Ser807Thr) c.1988G>C (p.Ser663Thr) | |
3 | g.119414409G= | CA1396548689 | ARHGAP31 | c.2480G= (p.Ser827=) c.2387G= (p.Ser796=) c.2420G= (p.Ser807=) c.1988G= (p.Ser663=) | |
3 | g.119414409G>T | CA354051516 | ARHGAP31 | c.2480G>T (p.Ser827Ile) c.2387G>T (p.Ser796Ile) c.2420G>T (p.Ser807Ile) c.1988G>T (p.Ser663Ile) | |
3 | g.119414410C>A | CA354051521 | ARHGAP31 | c.2481C>A (p.Ser827Arg) c.2388C>A (p.Ser796Arg) c.2421C>A (p.Ser807Arg) c.1989C>A (p.Ser663Arg) | |
3 | g.119414410C= | CA1396548690 | ARHGAP31 | c.2481C= (p.Ser827=) c.2388C= (p.Ser796=) c.2421C= (p.Ser807=) c.1989C= (p.Ser663=) | |
3 | g.119414410C>G | CA354051522 | ARHGAP31 | c.2481C>G (p.Ser827Arg) c.2388C>G (p.Ser796Arg) c.2421C>G (p.Ser807Arg) c.1989C>G (p.Ser663Arg) | |
3 | g.119414410C>T | CA2554049 | ARHGAP31 | c.2481C>T (p.Ser827=) c.2388C>T (p.Ser796=) c.2421C>T (p.Ser807=) c.1989C>T (p.Ser663=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414411C>A | CA354051523 | ARHGAP31 | c.2482C>A (p.Pro828Thr) c.2389C>A (p.Pro797Thr) c.2422C>A (p.Pro808Thr) c.1990C>A (p.Pro664Thr) | |
3 | g.119414411C>G | CA354051529 | ARHGAP31 | c.2482C>G (p.Pro828Ala) c.2389C>G (p.Pro797Ala) c.2422C>G (p.Pro808Ala) c.1990C>G (p.Pro664Ala) | |
3 | g.119414411C>T | CA354051527 | ARHGAP31 | c.2482C>T (p.Pro828Ser) c.2389C>T (p.Pro797Ser) c.2422C>T (p.Pro808Ser) c.1990C>T (p.Pro664Ser) | |
3 | g.119414412C>A | CA354051534 | ARHGAP31 | c.2483C>A (p.Pro828His) c.2390C>A (p.Pro797His) c.2423C>A (p.Pro808His) c.1991C>A (p.Pro664His) | |
3 | g.119414412C>G | CA354051535 | ARHGAP31 | c.2483C>G (p.Pro828Arg) c.2390C>G (p.Pro797Arg) c.2423C>G (p.Pro808Arg) c.1991C>G (p.Pro664Arg) | gnomAD v4 |
3 | g.119414412C>T | CA354051537 | ARHGAP31 | c.2483C>T (p.Pro828Leu) c.2390C>T (p.Pro797Leu) c.2423C>T (p.Pro808Leu) c.1991C>T (p.Pro664Leu) | |
3 | g.119414413T>A | CA435411898 | ARHGAP31 | c.2484T>A (p.Pro828=) c.2391T>A (p.Pro797=) c.2424T>A (p.Pro808=) c.1992T>A (p.Pro664=) | |
3 | g.119414413T>C | CA435411899 | ARHGAP31 | c.2484T>C (p.Pro828=) c.2391T>C (p.Pro797=) c.2424T>C (p.Pro808=) c.1992T>C (p.Pro664=) | |
3 | g.119414413T>G | CA435411900 | ARHGAP31 | c.2484T>G (p.Pro828=) c.2391T>G (p.Pro797=) c.2424T>G (p.Pro808=) c.1992T>G (p.Pro664=) | |
3 | g.119414414G>A | CA2554050 | ARHGAP31 | c.2485G>A (p.Glu829Lys) c.2392G>A (p.Glu798Lys) c.2425G>A (p.Glu809Lys) c.1993G>A (p.Glu665Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414414G>C | CA354051545 | ARHGAP31 | c.2485G>C (p.Glu829Gln) c.2392G>C (p.Glu798Gln) c.2425G>C (p.Glu809Gln) c.1993G>C (p.Glu665Gln) | COSMIC |
3 | g.119414414G= | CA1396548691 | ARHGAP31 | c.2485G= (p.Glu829=) c.2392G= (p.Glu798=) c.2425G= (p.Glu809=) c.1993G= (p.Glu665=) | |
3 | g.119414414G>T | CA354051546 | ARHGAP31 | c.2485G>T (p.Glu829Ter) c.2392G>T (p.Glu798Ter) c.2425G>T (p.Glu809Ter) c.1993G>T (p.Glu665Ter) | |
3 | g.119414415A>C | CA354051549 | ARHGAP31 | c.2486A>C (p.Glu829Ala) c.2393A>C (p.Glu798Ala) c.2426A>C (p.Glu809Ala) c.1994A>C (p.Glu665Ala) | |
3 | g.119414415A>G | CA354051550 | ARHGAP31 | c.2486A>G (p.Glu829Gly) c.2393A>G (p.Glu798Gly) c.2426A>G (p.Glu809Gly) c.1994A>G (p.Glu665Gly) | |
3 | g.119414415A>T | CA354051551 | ARHGAP31 | c.2486A>T (p.Glu829Val) c.2393A>T (p.Glu798Val) c.2426A>T (p.Glu809Val) c.1994A>T (p.Glu665Val) | |
3 | g.119414416G>A | CA435411907 | ARHGAP31 | c.2487G>A (p.Glu829=) c.2394G>A (p.Glu798=) c.2427G>A (p.Glu809=) c.1995G>A (p.Glu665=) | ClinVar dbSNP gnomAD v4 |
3 | g.119414416G>C | CA354051552 | ARHGAP31 | c.2487G>C (p.Glu829Asp) c.2394G>C (p.Glu798Asp) c.2427G>C (p.Glu809Asp) c.1995G>C (p.Glu665Asp) | gnomAD v4 |
3 | g.119414416G= | CA1396548692 | ARHGAP31 | c.2487G= (p.Glu829=) c.2394G= (p.Glu798=) c.2427G= (p.Glu809=) c.1995G= (p.Glu665=) | |
3 | g.119414416G>T | CA2554051 | ARHGAP31 | c.2487G>T (p.Glu829Asp) c.2394G>T (p.Glu798Asp) c.2427G>T (p.Glu809Asp) c.1995G>T (p.Glu665Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414417A= | CA1396548693 | ARHGAP31 | c.2488A= (p.Ile830=) c.2395A= (p.Ile799=) c.2428A= (p.Ile810=) c.1996A= (p.Ile666=) | |
3 | g.119414417A>C | CA354051559 | ARHGAP31 | c.2488A>C (p.Ile830Leu) c.2395A>C (p.Ile799Leu) c.2428A>C (p.Ile810Leu) c.1996A>C (p.Ile666Leu) | |
3 | g.119414417A>G | CA354051557 | ARHGAP31 | c.2488A>G (p.Ile830Val) c.2395A>G (p.Ile799Val) c.2428A>G (p.Ile810Val) c.1996A>G (p.Ile666Val) | |
3 | g.119414417A>T | CA81697756 | ARHGAP31 | c.2488A>T (p.Ile830Phe) c.2395A>T (p.Ile799Phe) c.2428A>T (p.Ile810Phe) c.1996A>T (p.Ile666Phe) | dbSNP |
3 | g.119414418T>A | CA354051561 | ARHGAP31 | c.2489T>A (p.Ile830Asn) c.2396T>A (p.Ile799Asn) c.2429T>A (p.Ile810Asn) c.1997T>A (p.Ile666Asn) | |
3 | g.119414418T>C | CA354051566 | ARHGAP31 | c.2489T>C (p.Ile830Thr) c.2396T>C (p.Ile799Thr) c.2429T>C (p.Ile810Thr) c.1997T>C (p.Ile666Thr) | gnomAD v4 |
3 | g.119414418T>G | CA354051563 | ARHGAP31 | c.2489T>G (p.Ile830Ser) c.2396T>G (p.Ile799Ser) c.2429T>G (p.Ile810Ser) c.1997T>G (p.Ile666Ser) | |
3 | g.119414419C>A | CA435411916 | ARHGAP31 | c.2490C>A (p.Ile830=) c.2397C>A (p.Ile799=) c.2430C>A (p.Ile810=) c.1998C>A (p.Ile666=) | |
3 | g.119414419C>G | CA354051571 | ARHGAP31 | c.2490C>G (p.Ile830Met) c.2397C>G (p.Ile799Met) c.2430C>G (p.Ile810Met) c.1998C>G (p.Ile666Met) | |
3 | g.119414419C>T | CA435411915 | ARHGAP31 | c.2490C>T (p.Ile830=) c.2397C>T (p.Ile799=) c.2430C>T (p.Ile810=) c.1998C>T (p.Ile666=) | |
3 | g.119414420T>A | CA354051575 | ARHGAP31 | c.2491T>A (p.Ser831Thr) c.2398T>A (p.Ser800Thr) c.2431T>A (p.Ser811Thr) c.1999T>A (p.Ser667Thr) | |
3 | g.119414420T>C | CA354051572 | ARHGAP31 | c.2491T>C (p.Ser831Pro) c.2398T>C (p.Ser800Pro) c.2431T>C (p.Ser811Pro) c.1999T>C (p.Ser667Pro) | |
3 | g.119414420T>G | CA354051584 | ARHGAP31 | c.2491T>G (p.Ser831Ala) c.2398T>G (p.Ser800Ala) c.2431T>G (p.Ser811Ala) c.1999T>G (p.Ser667Ala) | |
3 | g.119414420_119414422del | CA2667110274 | ARHGAP31 | c.2491_2493del (p.Ser831del) c.2398_2400del (p.Ser800del) c.2431_2433del (p.Ser811del) c.1999_2001del (p.Ser667del) | gnomAD v4 |
3 | g.119414421C>A | CA354051585 | ARHGAP31 | c.2492C>A (p.Ser831Tyr) c.2399C>A (p.Ser800Tyr) c.2432C>A (p.Ser811Tyr) c.2000C>A (p.Ser667Tyr) | |
3 | g.119414421C= | CA1396548694 | ARHGAP31 | c.2492C= (p.Ser831=) c.2399C= (p.Ser800=) c.2432C= (p.Ser811=) c.2000C= (p.Ser667=) | |
3 | g.119414421C>G | CA354051590 | ARHGAP31 | c.2492C>G (p.Ser831Cys) c.2399C>G (p.Ser800Cys) c.2432C>G (p.Ser811Cys) c.2000C>G (p.Ser667Cys) | |
3 | g.119414421C>T | CA354051595 | ARHGAP31 | c.2492C>T (p.Ser831Phe) c.2399C>T (p.Ser800Phe) c.2432C>T (p.Ser811Phe) c.2000C>T (p.Ser667Phe) | dbSNP |
3 | g.119414422T>A | CA435411921 | ARHGAP31 | c.2493T>A (p.Ser831=) c.2400T>A (p.Ser800=) c.2433T>A (p.Ser811=) c.2001T>A (p.Ser667=) | |
3 | g.119414422T>C | CA435411922 | ARHGAP31 | c.2493T>C (p.Ser831=) c.2400T>C (p.Ser800=) c.2433T>C (p.Ser811=) c.2001T>C (p.Ser667=) | |
3 | g.119414422T>G | CA435411923 | ARHGAP31 | c.2493T>G (p.Ser831=) c.2400T>G (p.Ser800=) c.2433T>G (p.Ser811=) c.2001T>G (p.Ser667=) | |
3 | g.119414423A>C | CA354051598 | ARHGAP31 | c.2494A>C (p.Ser832Arg) c.2401A>C (p.Ser801Arg) c.2434A>C (p.Ser812Arg) c.2002A>C (p.Ser668Arg) | |
3 | g.119414423A>G | CA354051601 | ARHGAP31 | c.2494A>G (p.Ser832Gly) c.2401A>G (p.Ser801Gly) c.2434A>G (p.Ser812Gly) c.2002A>G (p.Ser668Gly) | |
3 | g.119414423A>T | CA354051604 | ARHGAP31 | c.2494A>T (p.Ser832Cys) c.2401A>T (p.Ser801Cys) c.2434A>T (p.Ser812Cys) c.2002A>T (p.Ser668Cys) | |
3 | g.119414424G>A | CA354051607 | ARHGAP31 | c.2495G>A (p.Ser832Asn) c.2402G>A (p.Ser801Asn) c.2435G>A (p.Ser812Asn) c.2003G>A (p.Ser668Asn) | |
3 | g.119414424G>C | CA354051608 | ARHGAP31 | c.2495G>C (p.Ser832Thr) c.2402G>C (p.Ser801Thr) c.2435G>C (p.Ser812Thr) c.2003G>C (p.Ser668Thr) | |
3 | g.119414424G>T | CA354051611 | ARHGAP31 | c.2495G>T (p.Ser832Ile) c.2402G>T (p.Ser801Ile) c.2435G>T (p.Ser812Ile) c.2003G>T (p.Ser668Ile) | |
3 | g.119414425C>A | CA354051612 | ARHGAP31 | c.2496C>A (p.Ser832Arg) c.2403C>A (p.Ser801Arg) c.2436C>A (p.Ser812Arg) c.2004C>A (p.Ser668Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414425C= | CA1396548695 | ARHGAP31 | c.2496C= (p.Ser832=) c.2403C= (p.Ser801=) c.2436C= (p.Ser812=) c.2004C= (p.Ser668=) | |
3 | g.119414425C>G | CA354051614 | ARHGAP31 | c.2496C>G (p.Ser832Arg) c.2403C>G (p.Ser801Arg) c.2436C>G (p.Ser812Arg) c.2004C>G (p.Ser668Arg) | |
3 | g.119414425C>T | CA435411931 | ARHGAP31 | c.2496C>T (p.Ser832=) c.2403C>T (p.Ser801=) c.2436C>T (p.Ser812=) c.2004C>T (p.Ser668=) | |
3 | g.119414426C>A | CA354051621 | ARHGAP31 | c.2497C>A (p.Leu833Ile) c.2404C>A (p.Leu802Ile) c.2437C>A (p.Leu813Ile) c.2005C>A (p.Leu669Ile) | dbSNP gnomAD v2 |
3 | g.119414426C= | CA1396548696 | ARHGAP31 | c.2497C= (p.Leu833=) c.2404C= (p.Leu802=) c.2437C= (p.Leu813=) c.2005C= (p.Leu669=) | |
3 | g.119414426C>G | CA354051616 | ARHGAP31 | c.2497C>G (p.Leu833Val) c.2404C>G (p.Leu802Val) c.2437C>G (p.Leu813Val) c.2005C>G (p.Leu669Val) | |
3 | g.119414426C>T | CA2554052 | ARHGAP31 | c.2497C>T (p.Leu833Phe) c.2404C>T (p.Leu802Phe) c.2437C>T (p.Leu813Phe) c.2005C>T (p.Leu669Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414427T>A | CA354051624 | ARHGAP31 | c.2498T>A (p.Leu833His) c.2405T>A (p.Leu802His) c.2438T>A (p.Leu813His) c.2006T>A (p.Leu669His) | |
3 | g.119414427T>C | CA354051626 | ARHGAP31 | c.2498T>C (p.Leu833Pro) c.2405T>C (p.Leu802Pro) c.2438T>C (p.Leu813Pro) c.2006T>C (p.Leu669Pro) | |
3 | g.119414427T>G | CA354051630 | ARHGAP31 | c.2498T>G (p.Leu833Arg) c.2405T>G (p.Leu802Arg) c.2438T>G (p.Leu813Arg) c.2006T>G (p.Leu669Arg) | |
3 | g.119414428C>A | CA435411942 | ARHGAP31 | c.2499C>A (p.Leu833=) c.2406C>A (p.Leu802=) c.2439C>A (p.Leu813=) c.2007C>A (p.Leu669=) | |
3 | g.119414428C>G | CA435411944 | ARHGAP31 | c.2499C>G (p.Leu833=) c.2406C>G (p.Leu802=) c.2439C>G (p.Leu813=) c.2007C>G (p.Leu669=) | |
3 | g.119414428C>T | CA435411946 | ARHGAP31 | c.2499C>T (p.Leu833=) c.2406C>T (p.Leu802=) c.2439C>T (p.Leu813=) c.2007C>T (p.Leu669=) | |
3 | g.119414429T>A | CA354051631 | ARHGAP31 | c.2500T>A (p.Cys834Ser) c.2407T>A (p.Cys803Ser) c.2440T>A (p.Cys814Ser) c.2008T>A (p.Cys670Ser) | |
3 | g.119414429T>C | CA354051633 | ARHGAP31 | c.2500T>C (p.Cys834Arg) c.2407T>C (p.Cys803Arg) c.2440T>C (p.Cys814Arg) c.2008T>C (p.Cys670Arg) | dbSNP gnomAD v4 |
3 | g.119414429T>G | CA354051636 | ARHGAP31 | c.2500T>G (p.Cys834Gly) c.2407T>G (p.Cys803Gly) c.2440T>G (p.Cys814Gly) c.2008T>G (p.Cys670Gly) | |
3 | g.119414429T= | CA1396548697 | ARHGAP31 | c.2500T= (p.Cys834=) c.2407T= (p.Cys803=) c.2440T= (p.Cys814=) c.2008T= (p.Cys670=) | |
3 | g.119414430G>A | CA354051638 | ARHGAP31 | c.2501G>A (p.Cys834Tyr) c.2408G>A (p.Cys803Tyr) c.2441G>A (p.Cys814Tyr) c.2009G>A (p.Cys670Tyr) | |
3 | g.119414430G>C | CA354051639 | ARHGAP31 | c.2501G>C (p.Cys834Ser) c.2408G>C (p.Cys803Ser) c.2441G>C (p.Cys814Ser) c.2009G>C (p.Cys670Ser) | gnomAD v4 |
3 | g.119414430G>T | CA354051641 | ARHGAP31 | c.2501G>T (p.Cys834Phe) c.2408G>T (p.Cys803Phe) c.2441G>T (p.Cys814Phe) c.2009G>T (p.Cys670Phe) | |
3 | g.119414431T>A | CA354051644 | ARHGAP31 | c.2502T>A (p.Cys834Ter) c.2409T>A (p.Cys803Ter) c.2442T>A (p.Cys814Ter) c.2010T>A (p.Cys670Ter) | |
3 | g.119414431T>C | CA435411955 | ARHGAP31 | c.2502T>C (p.Cys834=) c.2409T>C (p.Cys803=) c.2442T>C (p.Cys814=) c.2010T>C (p.Cys670=) | |
3 | g.119414431T>G | CA354051645 | ARHGAP31 | c.2502T>G (p.Cys834Trp) c.2409T>G (p.Cys803Trp) c.2442T>G (p.Cys814Trp) c.2010T>G (p.Cys670Trp) | |
3 | g.119414432C>A | CA354051655 | ARHGAP31 | c.2503C>A (p.Gln835Lys) c.2410C>A (p.Gln804Lys) c.2443C>A (p.Gln815Lys) c.2011C>A (p.Gln671Lys) | |
3 | g.119414432C>G | CA354051658 | ARHGAP31 | c.2503C>G (p.Gln835Glu) c.2410C>G (p.Gln804Glu) c.2443C>G (p.Gln815Glu) c.2011C>G (p.Gln671Glu) | |
3 | g.119414432C>T | CA354051647 | ARHGAP31 | c.2503C>T (p.Gln835Ter) c.2410C>T (p.Gln804Ter) c.2443C>T (p.Gln815Ter) c.2011C>T (p.Gln671Ter) | |
3 | g.119414433A>C | CA354051661 | ARHGAP31 | c.2504A>C (p.Gln835Pro) c.2411A>C (p.Gln804Pro) c.2444A>C (p.Gln815Pro) c.2012A>C (p.Gln671Pro) | |
3 | g.119414433A>G | CA354051663 | ARHGAP31 | c.2504A>G (p.Gln835Arg) c.2411A>G (p.Gln804Arg) c.2444A>G (p.Gln815Arg) c.2012A>G (p.Gln671Arg) | |
3 | g.119414433A>T | CA354051664 | ARHGAP31 | c.2504A>T (p.Gln835Leu) c.2411A>T (p.Gln804Leu) c.2444A>T (p.Gln815Leu) c.2012A>T (p.Gln671Leu) | |
3 | g.119414434G>A | CA435411967 | ARHGAP31 | c.2505G>A (p.Gln835=) c.2412G>A (p.Gln804=) c.2445G>A (p.Gln815=) c.2013G>A (p.Gln671=) | gnomAD v4 |
3 | g.119414434G>C | CA354051668 | ARHGAP31 | c.2505G>C (p.Gln835His) c.2412G>C (p.Gln804His) c.2445G>C (p.Gln815His) c.2013G>C (p.Gln671His) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414434G= | CA1396548698 | ARHGAP31 | c.2505G= (p.Gln835=) c.2412G= (p.Gln804=) c.2445G= (p.Gln815=) c.2013G= (p.Gln671=) | |
3 | g.119414434G>T | CA354051670 | ARHGAP31 | c.2505G>T (p.Gln835His) c.2412G>T (p.Gln804His) c.2445G>T (p.Gln815His) c.2013G>T (p.Gln671His) | |
3 | g.119414435G>A | CA354051673 | ARHGAP31 | c.2506G>A (p.Gly836Arg) c.2413G>A (p.Gly805Arg) c.2446G>A (p.Gly816Arg) c.2014G>A (p.Gly672Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414435G>C | CA354051674 | ARHGAP31 | c.2506G>C (p.Gly836Arg) c.2413G>C (p.Gly805Arg) c.2446G>C (p.Gly816Arg) c.2014G>C (p.Gly672Arg) | |
3 | g.119414435G= | CA1396548699 | ARHGAP31 | c.2506G= (p.Gly836=) c.2413G= (p.Gly805=) c.2446G= (p.Gly816=) c.2014G= (p.Gly672=) | |
3 | g.119414435G>T | CA354051677 | ARHGAP31 | c.2506G>T (p.Gly836Ter) c.2413G>T (p.Gly805Ter) c.2446G>T (p.Gly816Ter) c.2014G>T (p.Gly672Ter) | |
3 | g.119414436G>A | CA354051680 | ARHGAP31 | c.2507G>A (p.Gly836Glu) c.2414G>A (p.Gly805Glu) c.2447G>A (p.Gly816Glu) c.2015G>A (p.Gly672Glu) | |
3 | g.119414436G>C | CA354051682 | ARHGAP31 | c.2507G>C (p.Gly836Ala) c.2414G>C (p.Gly805Ala) c.2447G>C (p.Gly816Ala) c.2015G>C (p.Gly672Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414436G= | CA1396548700 | ARHGAP31 | c.2507G= (p.Gly836=) c.2414G= (p.Gly805=) c.2447G= (p.Gly816=) c.2015G= (p.Gly672=) | |
3 | g.119414436G>T | CA354051684 | ARHGAP31 | c.2507G>T (p.Gly836Val) c.2414G>T (p.Gly805Val) c.2447G>T (p.Gly816Val) c.2015G>T (p.Gly672Val) |