| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5641223G>A | CA453640191 | RNF216 | c.2313C>T (p.Cys771=) c.*1430C>T (n.*1430C>T) c.2142C>T (p.Cys714=) n.530C>T c.1008C>T (p.Cys336=) | COSMIC |
| 7 | g.5641223G>C | CA366710764 | RNF216 | c.2313C>G (p.Cys771Trp) c.*1430C>G (n.*1430C>G) c.2142C>G (p.Cys714Trp) n.530C>G c.1008C>G (p.Cys336Trp) | |
| 7 | g.5641223G>T | CA366710765 | RNF216 | c.2313C>A (p.Cys771Ter) c.*1430C>A (n.*1430C>A) c.2142C>A (p.Cys714Ter) n.530C>A c.1008C>A (p.Cys336Ter) | |
| 7 | g.5641224C>A | CA366710769 | RNF216 | c.2312G>T (p.Cys771Phe) c.*1429G>T (n.*1429G>T) c.2141G>T (p.Cys714Phe) n.529G>T c.1007G>T (p.Cys336Phe) | |
| 7 | g.5641224C>G | CA366710774 | RNF216 | c.2312G>C (p.Cys771Ser) c.*1429G>C (n.*1429G>C) c.2141G>C (p.Cys714Ser) n.529G>C c.1007G>C (p.Cys336Ser) | |
| 7 | g.5641224C>T | CA366710781 | RNF216 | c.2312G>A (p.Cys771Tyr) c.*1429G>A (n.*1429G>A) c.2141G>A (p.Cys714Tyr) n.529G>A c.1007G>A (p.Cys336Tyr) | |
| 7 | g.5641225A>C | CA366710786 | RNF216 | c.2311T>G (p.Cys771Gly) c.*1428T>G (n.*1428T>G) c.2140T>G (p.Cys714Gly) n.528T>G c.1006T>G (p.Cys336Gly) | |
| 7 | g.5641225A>G | CA366710787 | RNF216 | c.2311T>C (p.Cys771Arg) c.*1428T>C (n.*1428T>C) c.2140T>C (p.Cys714Arg) n.528T>C c.1006T>C (p.Cys336Arg) | |
| 7 | g.5641225A>T | CA366710788 | RNF216 | c.2311T>A (p.Cys771Ser) c.*1428T>A (n.*1428T>A) c.2140T>A (p.Cys714Ser) n.528T>A c.1006T>A (p.Cys336Ser) | |
| 7 | g.5641226G>A | CA453640193 | RNF216 | c.2310C>T (p.Phe770=) c.*1427C>T (n.*1427C>T) c.2139C>T (p.Phe713=) n.527C>T c.1005C>T (p.Phe335=) | gnomAD v4 |
| 7 | g.5641226G>C | CA366710792 | RNF216 | c.2310C>G (p.Phe770Leu) c.*1427C>G (n.*1427C>G) c.2139C>G (p.Phe713Leu) n.527C>G c.1005C>G (p.Phe335Leu) | |
| 7 | g.5641226G>T | CA366710793 | RNF216 | c.2310C>A (p.Phe770Leu) c.*1427C>A (n.*1427C>A) c.2139C>A (p.Phe713Leu) n.527C>A c.1005C>A (p.Phe335Leu) | |
| 7 | g.5641227A>C | CA366710802 | RNF216 | c.2309T>G (p.Phe770Cys) c.*1426T>G (n.*1426T>G) c.2138T>G (p.Phe713Cys) n.526T>G c.1004T>G (p.Phe335Cys) | |
| 7 | g.5641227A>G | CA366710807 | RNF216 | c.2309T>C (p.Phe770Ser) c.*1426T>C (n.*1426T>C) c.2138T>C (p.Phe713Ser) n.526T>C c.1004T>C (p.Phe335Ser) | |
| 7 | g.5641227A>T | CA366710805 | RNF216 | c.2309T>A (p.Phe770Tyr) c.*1426T>A (n.*1426T>A) c.2138T>A (p.Phe713Tyr) n.526T>A c.1004T>A (p.Phe335Tyr) | |
| 7 | g.5641228A>C | CA366710810 | RNF216 | c.2308T>G (p.Phe770Val) c.*1425T>G (n.*1425T>G) c.2137T>G (p.Phe713Val) n.525T>G c.1003T>G (p.Phe335Val) | |
| 7 | g.5641228A>G | CA366710814 | RNF216 | c.2308T>C (p.Phe770Leu) c.*1425T>C (n.*1425T>C) c.2137T>C (p.Phe713Leu) n.525T>C c.1003T>C (p.Phe335Leu) | |
| 7 | g.5641228A>T | CA366710832 | RNF216 | c.2308T>A (p.Phe770Ile) c.*1425T>A (n.*1425T>A) c.2137T>A (p.Phe713Ile) n.525T>A c.1003T>A (p.Phe335Ile) | |
| 7 | g.5641229A>C | CA366710834 | RNF216 | c.2307T>G (p.His769Gln) c.*1424T>G (n.*1424T>G) c.2136T>G (p.His712Gln) n.524T>G c.1002T>G (p.His334Gln) | |
| 7 | g.5641229A>G | CA453640195 | RNF216 | c.2307T>C (p.His769=) c.*1424T>C (n.*1424T>C) c.2136T>C (p.His712=) n.524T>C c.1002T>C (p.His334=) | |
| 7 | g.5641229A>T | CA366710840 | RNF216 | c.2307T>A (p.His769Gln) c.*1424T>A (n.*1424T>A) c.2136T>A (p.His712Gln) n.524T>A c.1002T>A (p.His334Gln) | |
| 7 | g.5641230T>A | CA366710858 | RNF216 | c.2306A>T (p.His769Leu) c.*1423A>T (n.*1423A>T) c.2135A>T (p.His712Leu) n.523A>T c.1001A>T (p.His334Leu) | |
| 7 | g.5641230T>C | CA366710862 | RNF216 | c.2306A>G (p.His769Arg) c.*1423A>G (n.*1423A>G) c.2135A>G (p.His712Arg) n.523A>G c.1001A>G (p.His334Arg) | gnomAD v4 |
| 7 | g.5641230T>G | CA366710866 | RNF216 | c.2306A>C (p.His769Pro) c.*1423A>C (n.*1423A>C) c.2135A>C (p.His712Pro) n.523A>C c.1001A>C (p.His334Pro) | |
| 7 | g.5641231G>A | CA366710870 | RNF216 | c.2305C>T (p.His769Tyr) c.*1422C>T (n.*1422C>T) c.2134C>T (p.His712Tyr) n.522C>T c.1000C>T (p.His334Tyr) | |
| 7 | g.5641231G>C | CA366710871 | RNF216 | c.2305C>G (p.His769Asp) c.*1422C>G (n.*1422C>G) c.2134C>G (p.His712Asp) n.522C>G c.1000C>G (p.His334Asp) | |
| 7 | g.5641231G>T | CA366710874 | RNF216 | c.2305C>A (p.His769Asn) c.*1422C>A (n.*1422C>A) c.2134C>A (p.His712Asn) n.522C>A c.1000C>A (p.His334Asn) | |
| 7 | g.5641232G>A | CA453640199 | RNF216 | c.2304C>T (p.Asp768=) c.*1421C>T (n.*1421C>T) c.2133C>T (p.Asp711=) n.521C>T c.999C>T (p.Asp333=) | |
| 7 | g.5641232G>C | CA4147852 | RNF216 | c.2304C>G (p.Asp768Glu) c.*1421C>G (n.*1421C>G) c.2133C>G (p.Asp711Glu) n.521C>G c.999C>G (p.Asp333Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641232G= | CA1685037943 | RNF216 | c.2304C= (p.Asp768=) c.*1421C= (n.*1421C=) c.2133C= (p.Asp711=) n.521C= c.999C= (p.Asp333=) | |
| 7 | g.5641232G>T | CA366710882 | RNF216 | c.2304C>A (p.Asp768Glu) c.*1421C>A (n.*1421C>A) c.2133C>A (p.Asp711Glu) n.521C>A c.999C>A (p.Asp333Glu) | |
| 7 | g.5641233T>A | CA366710888 | RNF216 | c.2303A>T (p.Asp768Val) c.*1420A>T (n.*1420A>T) c.2132A>T (p.Asp711Val) n.520A>T c.998A>T (p.Asp333Val) | |
| 7 | g.5641233T>C | CA366710891 | RNF216 | c.2303A>G (p.Asp768Gly) c.*1420A>G (n.*1420A>G) c.2132A>G (p.Asp711Gly) n.520A>G c.998A>G (p.Asp333Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641233T>G | CA366710895 | RNF216 | c.2303A>C (p.Asp768Ala) c.*1420A>C (n.*1420A>C) c.2132A>C (p.Asp711Ala) n.520A>C c.998A>C (p.Asp333Ala) | |
| 7 | g.5641233T= | CA1685037947 | RNF216 | c.2303A= (p.Asp768=) c.*1420A= (n.*1420A=) c.2132A= (p.Asp711=) n.520A= c.998A= (p.Asp333=) | |
| 7 | g.5641234C>A | CA366710909 | RNF216 | c.2302G>T (p.Asp768Tyr) c.*1419G>T (n.*1419G>T) c.2131G>T (p.Asp711Tyr) n.519G>T c.997G>T (p.Asp333Tyr) | |
| 7 | g.5641234C>G | CA366710910 | RNF216 | c.2302G>C (p.Asp768His) c.*1419G>C (n.*1419G>C) c.2131G>C (p.Asp711His) n.519G>C c.997G>C (p.Asp333His) | |
| 7 | g.5641234C>T | CA366710913 | RNF216 | c.2302G>A (p.Asp768Asn) c.*1419G>A (n.*1419G>A) c.2131G>A (p.Asp711Asn) n.519G>A c.997G>A (p.Asp333Asn) | |
| 7 | g.5641235A>C | CA366710925 | RNF216 | c.2301T>G (p.Tyr767Ter) c.*1418T>G (n.*1418T>G) c.2130T>G (p.Tyr710Ter) n.518T>G c.996T>G (p.Tyr332Ter) | |
| 7 | g.5641235A>G | CA453640203 | RNF216 | c.2301T>C (p.Tyr767=) c.*1418T>C (n.*1418T>C) c.2130T>C (p.Tyr710=) n.518T>C c.996T>C (p.Tyr332=) | |
| 7 | g.5641235A>T | CA366710917 | RNF216 | c.2301T>A (p.Tyr767Ter) c.*1418T>A (n.*1418T>A) c.2130T>A (p.Tyr710Ter) n.518T>A c.996T>A (p.Tyr332Ter) | |
| 7 | g.5641236T>A | CA366710927 | RNF216 | c.2300A>T (p.Tyr767Phe) c.*1417A>T (n.*1417A>T) c.2129A>T (p.Tyr710Phe) n.517A>T c.995A>T (p.Tyr332Phe) | |
| 7 | g.5641236T>C | CA366710928 | RNF216 | c.2300A>G (p.Tyr767Cys) c.*1417A>G (n.*1417A>G) c.2129A>G (p.Tyr710Cys) n.517A>G c.995A>G (p.Tyr332Cys) | |
| 7 | g.5641236T>G | CA366710930 | RNF216 | c.2300A>C (p.Tyr767Ser) c.*1417A>C (n.*1417A>C) c.2129A>C (p.Tyr710Ser) n.517A>C c.995A>C (p.Tyr332Ser) | |
| 7 | g.5641237A>C | CA366710943 | RNF216 | c.2299T>G (p.Tyr767Asp) c.*1416T>G (n.*1416T>G) c.2128T>G (p.Tyr710Asp) n.516T>G c.994T>G (p.Tyr332Asp) | |
| 7 | g.5641237A>G | CA366710950 | RNF216 | c.2299T>C (p.Tyr767His) c.*1416T>C (n.*1416T>C) c.2128T>C (p.Tyr710His) n.516T>C c.994T>C (p.Tyr332His) | |
| 7 | g.5641237A>T | CA366710956 | RNF216 | c.2299T>A (p.Tyr767Asn) c.*1416T>A (n.*1416T>A) c.2128T>A (p.Tyr710Asn) n.516T>A c.994T>A (p.Tyr332Asn) | |
| 7 | g.5641238T>A | CA453640205 | RNF216 | c.2298A>T (p.Gly766=) c.*1415A>T (n.*1415A>T) c.2127A>T (p.Gly709=) n.515A>T c.993A>T (p.Gly331=) | |
| 7 | g.5641238T>C | CA453640206 | RNF216 | c.2298A>G (p.Gly766=) c.*1415A>G (n.*1415A>G) c.2127A>G (p.Gly709=) n.515A>G c.993A>G (p.Gly331=) | gnomAD v4 |
| 7 | g.5641238T>G | CA453640207 | RNF216 | c.2298A>C (p.Gly766=) c.*1415A>C (n.*1415A>C) c.2127A>C (p.Gly709=) n.515A>C c.993A>C (p.Gly331=) | |
| 7 | g.5641239C>A | CA366710969 | RNF216 | c.2297G>T (p.Gly766Val) c.*1414G>T (n.*1414G>T) c.2126G>T (p.Gly709Val) n.514G>T c.992G>T (p.Gly331Val) | |
| 7 | g.5641239C= | CA1685037949 | RNF216 | c.2297G= (p.Gly766=) c.*1414G= (n.*1414G=) c.2126G= (p.Gly709=) n.514G= c.992G= (p.Gly331=) | |
| 7 | g.5641239C>G | CA366710977 | RNF216 | c.2297G>C (p.Gly766Ala) c.*1414G>C (n.*1414G>C) c.2126G>C (p.Gly709Ala) n.514G>C c.992G>C (p.Gly331Ala) | |
| 7 | g.5641239C>T | CA4147853 | RNF216 | c.2297G>A (p.Gly766Glu) c.*1414G>A (n.*1414G>A) c.2126G>A (p.Gly709Glu) n.514G>A c.992G>A (p.Gly331Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641240C>A | CA366710983 | RNF216 | c.2296G>T (p.Gly766Ter) c.*1413G>T (n.*1413G>T) c.2125G>T (p.Gly709Ter) n.513G>T c.991G>T (p.Gly331Ter) | |
| 7 | g.5641240C>G | CA366710986 | RNF216 | c.2296G>C (p.Gly766Arg) c.*1413G>C (n.*1413G>C) c.2125G>C (p.Gly709Arg) n.513G>C c.991G>C (p.Gly331Arg) | |
| 7 | g.5641240C>T | CA366710993 | RNF216 | c.2296G>A (p.Gly766Arg) c.*1413G>A (n.*1413G>A) c.2125G>A (p.Gly709Arg) n.513G>A c.991G>A (p.Gly331Arg) | gnomAD v4 |
| 7 | g.5641241A>C | CA366710999 | RNF216 | c.2295T>G (p.Asn765Lys) c.*1412T>G (n.*1412T>G) c.2124T>G (p.Asn708Lys) n.512T>G c.990T>G (p.Asn330Lys) | |
| 7 | g.5641241A>G | CA453640208 | RNF216 | c.2295T>C (p.Asn765=) c.*1412T>C (n.*1412T>C) c.2124T>C (p.Asn708=) n.512T>C c.990T>C (p.Asn330=) | |
| 7 | g.5641241A>T | CA366711003 | RNF216 | c.2295T>A (p.Asn765Lys) c.*1412T>A (n.*1412T>A) c.2124T>A (p.Asn708Lys) n.512T>A c.990T>A (p.Asn330Lys) | |
| 7 | g.5641242T>A | CA366711004 | RNF216 | c.2294A>T (p.Asn765Ile) c.*1411A>T (n.*1411A>T) c.2123A>T (p.Asn708Ile) n.511A>T c.989A>T (p.Asn330Ile) | |
| 7 | g.5641242T>C | CA366711005 | RNF216 | c.2294A>G (p.Asn765Ser) c.*1411A>G (n.*1411A>G) c.2123A>G (p.Asn708Ser) n.511A>G c.989A>G (p.Asn330Ser) | gnomAD v4 |
| 7 | g.5641242T>G | CA366711010 | RNF216 | c.2294A>C (p.Asn765Thr) c.*1411A>C (n.*1411A>C) c.2123A>C (p.Asn708Thr) n.511A>C c.989A>C (p.Asn330Thr) | dbSNP |
| 7 | g.5641242T= | CA1685037950 | RNF216 | c.2294A= (p.Asn765=) c.*1411A= (n.*1411A=) c.2123A= (p.Asn708=) n.511A= c.989A= (p.Asn330=) | |
| 7 | g.5641243T>A | CA366711015 | RNF216 | c.2293A>T (p.Asn765Tyr) c.*1410A>T (n.*1410A>T) c.2122A>T (p.Asn708Tyr) n.510A>T c.988A>T (p.Asn330Tyr) | |
| 7 | g.5641243T>C | CA153208330 | RNF216 | c.2293A>G (p.Asn765Asp) c.*1410A>G (n.*1410A>G) c.2122A>G (p.Asn708Asp) n.510A>G c.988A>G (p.Asn330Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641243T>G | CA366711028 | RNF216 | c.2293A>C (p.Asn765His) c.*1410A>C (n.*1410A>C) c.2122A>C (p.Asn708His) n.510A>C c.988A>C (p.Asn330His) | gnomAD v4 |
| 7 | g.5641243T= | CA1685037952 | RNF216 | c.2293A= (p.Asn765=) c.*1410A= (n.*1410A=) c.2122A= (p.Asn708=) n.510A= c.988A= (p.Asn330=) | |
| 7 | g.5641244A= | CA1685037956 | RNF216 | c.2292T= (p.Ile764=) c.*1409T= (n.*1409T=) c.2121T= (p.Ile707=) n.509T= c.987T= (p.Ile329=) | |
| 7 | g.5641244A>C | CA366711033 | RNF216 | c.2292T>G (p.Ile764Met) c.*1409T>G (n.*1409T>G) c.2121T>G (p.Ile707Met) n.509T>G c.987T>G (p.Ile329Met) | |
| 7 | g.5641244A>G | CA153208334 | RNF216 | c.2292T>C (p.Ile764=) c.*1409T>C (n.*1409T>C) c.2121T>C (p.Ile707=) n.509T>C c.987T>C (p.Ile329=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641244A>T | CA453640212 | RNF216 | c.2292T>A (p.Ile764=) c.*1409T>A (n.*1409T>A) c.2121T>A (p.Ile707=) n.509T>A c.987T>A (p.Ile329=) | |
| 7 | g.5641245A= | CA1685037958 | RNF216 | c.2291T= (p.Ile764=) c.*1408T= (n.*1408T=) c.2120T= (p.Ile707=) n.508T= c.986T= (p.Ile329=) | |
| 7 | g.5641245A>C | CA366711042 | RNF216 | c.2291T>G (p.Ile764Ser) c.*1408T>G (n.*1408T>G) c.2120T>G (p.Ile707Ser) n.508T>G c.986T>G (p.Ile329Ser) | dbSNP gnomAD v4 |
| 7 | g.5641245A>G | CA366711036 | RNF216 | c.2291T>C (p.Ile764Thr) c.*1408T>C (n.*1408T>C) c.2120T>C (p.Ile707Thr) n.508T>C c.986T>C (p.Ile329Thr) | |
| 7 | g.5641245A>T | CA366711051 | RNF216 | c.2291T>A (p.Ile764Asn) c.*1408T>A (n.*1408T>A) c.2120T>A (p.Ile707Asn) n.508T>A c.986T>A (p.Ile329Asn) | |
| 7 | g.5641246T>A | CA366711057 | RNF216 | c.2290A>T (p.Ile764Phe) c.*1407A>T (n.*1407A>T) c.2119A>T (p.Ile707Phe) n.507A>T c.985A>T (p.Ile329Phe) | |
| 7 | g.5641246T>C | CA4147854 | RNF216 | c.2290A>G (p.Ile764Val) c.*1407A>G (n.*1407A>G) c.2119A>G (p.Ile707Val) n.507A>G c.985A>G (p.Ile329Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641246T>G | CA366711061 | RNF216 | c.2290A>C (p.Ile764Leu) c.*1407A>C (n.*1407A>C) c.2119A>C (p.Ile707Leu) n.507A>C c.985A>C (p.Ile329Leu) | |
| 7 | g.5641246T= | CA1685037962 | RNF216 | c.2290A= (p.Ile764=) c.*1407A= (n.*1407A=) c.2119A= (p.Ile707=) n.507A= c.985A= (p.Ile329=) | |
| 7 | g.5641247A>C | CA453640214 | RNF216 | c.2289T>G (p.Ser763=) c.*1406T>G (n.*1406T>G) c.2118T>G (p.Ser706=) n.506T>G c.984T>G (p.Ser328=) | |
| 7 | g.5641247A>G | CA453640216 | RNF216 | c.2289T>C (p.Ser763=) c.*1406T>C (n.*1406T>C) c.2118T>C (p.Ser706=) n.506T>C c.984T>C (p.Ser328=) | |
| 7 | g.5641247A>T | CA453640215 | RNF216 | c.2289T>A (p.Ser763=) c.*1406T>A (n.*1406T>A) c.2118T>A (p.Ser706=) n.506T>A c.984T>A (p.Ser328=) | |
| 7 | g.5641248G>A | CA4147855 | RNF216 | c.2288C>T (p.Ser763Phe) c.*1405C>T (n.*1405C>T) c.2117C>T (p.Ser706Phe) n.505C>T c.983C>T (p.Ser328Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641248G>C | CA366711072 | RNF216 | c.2288C>G (p.Ser763Cys) c.*1405C>G (n.*1405C>G) c.2117C>G (p.Ser706Cys) n.505C>G c.983C>G (p.Ser328Cys) | |
| 7 | g.5641248G= | CA1685037964 | RNF216 | c.2288C= (p.Ser763=) c.*1405C= (n.*1405C=) c.2117C= (p.Ser706=) n.505C= c.983C= (p.Ser328=) | |
| 7 | g.5641248G>T | CA366711075 | RNF216 | c.2288C>A (p.Ser763Tyr) c.*1405C>A (n.*1405C>A) c.2117C>A (p.Ser706Tyr) n.505C>A c.983C>A (p.Ser328Tyr) | |
| 7 | g.5641249A>C | CA366711085 | RNF216 | c.2287T>G (p.Ser763Ala) c.*1404T>G (n.*1404T>G) c.2116T>G (p.Ser706Ala) n.504T>G c.982T>G (p.Ser328Ala) | |
| 7 | g.5641249A>G | CA366711092 | RNF216 | c.2287T>C (p.Ser763Pro) c.*1404T>C (n.*1404T>C) c.2116T>C (p.Ser706Pro) n.504T>C c.982T>C (p.Ser328Pro) | |
| 7 | g.5641249A>T | CA366711095 | RNF216 | c.2287T>A (p.Ser763Thr) c.*1404T>A (n.*1404T>A) c.2116T>A (p.Ser706Thr) n.504T>A c.982T>A (p.Ser328Thr) | |
| 7 | g.5641250A>C | CA453640218 | RNF216 | c.2286T>G (p.Val762=) c.*1403T>G (n.*1403T>G) c.2115T>G (p.Val705=) n.503T>G c.981T>G (p.Val327=) | |
| 7 | g.5641250A>G | CA453640219 | RNF216 | c.2286T>C (p.Val762=) c.*1403T>C (n.*1403T>C) c.2115T>C (p.Val705=) n.503T>C c.981T>C (p.Val327=) | |
| 7 | g.5641250A>T | CA453640220 | RNF216 | c.2286T>A (p.Val762=) c.*1403T>A (n.*1403T>A) c.2115T>A (p.Val705=) n.503T>A c.981T>A (p.Val327=) | |
| 7 | g.5641251A>C | CA366711107 | RNF216 | c.2285T>G (p.Val762Gly) c.*1402T>G (n.*1402T>G) c.2114T>G (p.Val705Gly) n.502T>G c.980T>G (p.Val327Gly) | |
| 7 | g.5641251A>G | CA366711117 | RNF216 | c.2285T>C (p.Val762Ala) c.*1402T>C (n.*1402T>C) c.2114T>C (p.Val705Ala) n.502T>C c.980T>C (p.Val327Ala) | gnomAD v4 |
| 7 | g.5641251A>T | CA366711121 | RNF216 | c.2285T>A (p.Val762Asp) c.*1402T>A (n.*1402T>A) c.2114T>A (p.Val705Asp) n.502T>A c.980T>A (p.Val327Asp) | |
| 7 | g.5641252C>A | CA366711122 | RNF216 | c.2284G>T (p.Val762Phe) c.*1401G>T (n.*1401G>T) c.2113G>T (p.Val705Phe) n.501G>T c.979G>T (p.Val327Phe) | |
| 7 | g.5641252C>G | CA366711123 | RNF216 | c.2284G>C (p.Val762Leu) c.*1401G>C (n.*1401G>C) c.2113G>C (p.Val705Leu) n.501G>C c.979G>C (p.Val327Leu) | |
| 7 | g.5641252C>T | CA366711127 | RNF216 | c.2284G>A (p.Val762Ile) c.*1401G>A (n.*1401G>A) c.2113G>A (p.Val705Ile) n.501G>A c.979G>A (p.Val327Ile) | gnomAD v4 |
| 7 | g.5641253T>A | CA453640223 | RNF216 | c.2283A>T (p.Arg761=) c.*1400A>T (n.*1400A>T) c.2112A>T (p.Arg704=) n.500A>T c.978A>T (p.Arg326=) | |
| 7 | g.5641253T>C | CA453640224 | RNF216 | c.2283A>G (p.Arg761=) c.*1400A>G (n.*1400A>G) c.2112A>G (p.Arg704=) n.500A>G c.978A>G (p.Arg326=) | |
| 7 | g.5641253T>G | CA453640225 | RNF216 | c.2283A>C (p.Arg761=) c.*1400A>C (n.*1400A>C) c.2112A>C (p.Arg704=) n.500A>C c.978A>C (p.Arg326=) | |
| 7 | g.5641254C>A | CA366711141 | RNF216 | c.2282G>T (p.Arg761Leu) c.*1399G>T (n.*1399G>T) c.2111G>T (p.Arg704Leu) n.499G>T c.977G>T (p.Arg326Leu) | dbSNP |
| 7 | g.5641254C= | CA1685037967 | RNF216 | c.2282G= (p.Arg761=) c.*1399G= (n.*1399G=) c.2111G= (p.Arg704=) n.499G= c.977G= (p.Arg326=) | |
| 7 | g.5641254C>G | CA366711133 | RNF216 | c.2282G>C (p.Arg761Pro) c.*1399G>C (n.*1399G>C) c.2111G>C (p.Arg704Pro) n.499G>C c.977G>C (p.Arg326Pro) | dbSNP |
| 7 | g.5641254C>T | CA366711137 | RNF216 | c.2282G>A (p.Arg761Gln) c.*1399G>A (n.*1399G>A) c.2111G>A (p.Arg704Gln) n.499G>A c.977G>A (p.Arg326Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641255G>A | CA366711144 | RNF216 | c.2281C>T (p.Arg761Ter) c.*1398C>T (n.*1398C>T) c.2110C>T (p.Arg704Ter) n.498C>T c.976C>T (p.Arg326Ter) | |
| 7 | g.5641255G>C | CA366711148 | RNF216 | c.2281C>G (p.Arg761Gly) c.*1398C>G (n.*1398C>G) c.2110C>G (p.Arg704Gly) n.498C>G c.976C>G (p.Arg326Gly) | gnomAD v4 COSMIC |
| 7 | g.5641255G>T | CA453640226 | RNF216 | c.2281C>A (p.Arg761=) c.*1398C>A (n.*1398C>A) c.2110C>A (p.Arg704=) n.498C>A c.976C>A (p.Arg326=) | gnomAD v4 |
| 7 | g.5641256A>C | CA366711153 | RNF216 | c.2280T>G (p.Cys760Trp) c.*1397T>G (n.*1397T>G) c.2109T>G (p.Cys703Trp) n.497T>G c.975T>G (p.Cys325Trp) | |
| 7 | g.5641256A>G | CA453640227 | RNF216 | c.2280T>C (p.Cys760=) c.*1397T>C (n.*1397T>C) c.2109T>C (p.Cys703=) n.497T>C c.975T>C (p.Cys325=) | |
| 7 | g.5641256A>T | CA366711157 | RNF216 | c.2280T>A (p.Cys760Ter) c.*1397T>A (n.*1397T>A) c.2109T>A (p.Cys703Ter) n.497T>A c.975T>A (p.Cys325Ter) | |
| 7 | g.5641257C>A | CA366711172 | RNF216 | c.2279G>T (p.Cys760Phe) c.*1396G>T (n.*1396G>T) c.2108G>T (p.Cys703Phe) n.496G>T c.974G>T (p.Cys325Phe) | |
| 7 | g.5641257C>G | CA366711175 | RNF216 | c.2279G>C (p.Cys760Ser) c.*1396G>C (n.*1396G>C) c.2108G>C (p.Cys703Ser) n.496G>C c.974G>C (p.Cys325Ser) | |
| 7 | g.5641257C>T | CA366711186 | RNF216 | c.2279G>A (p.Cys760Tyr) c.*1396G>A (n.*1396G>A) c.2108G>A (p.Cys703Tyr) n.496G>A c.974G>A (p.Cys325Tyr) | ClinVar gnomAD v4 |
| 7 | g.5641258A>C | CA366711193 | RNF216 | c.2278T>G (p.Cys760Gly) c.*1395T>G (n.*1395T>G) c.2107T>G (p.Cys703Gly) n.495T>G c.973T>G (p.Cys325Gly) | |
| 7 | g.5641258A>G | CA366711199 | RNF216 | c.2278T>C (p.Cys760Arg) c.*1395T>C (n.*1395T>C) c.2107T>C (p.Cys703Arg) n.495T>C c.973T>C (p.Cys325Arg) | |
| 7 | g.5641258A>T | CA366711203 | RNF216 | c.2278T>A (p.Cys760Ser) c.*1395T>A (n.*1395T>A) c.2107T>A (p.Cys703Ser) n.495T>A c.973T>A (p.Cys325Ser) | |
| 7 | g.5641259G>A | CA4147856 | RNF216 | c.2277C>T (p.Leu759=) c.*1394C>T (n.*1394C>T) c.2106C>T (p.Leu702=) n.494C>T c.972C>T (p.Leu324=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641259G>C | CA453640229 | RNF216 | c.2277C>G (p.Leu759=) c.*1394C>G (n.*1394C>G) c.2106C>G (p.Leu702=) n.494C>G c.972C>G (p.Leu324=) | |
| 7 | g.5641259G= | CA1685037971 | RNF216 | c.2277C= (p.Leu759=) c.*1394C= (n.*1394C=) c.2106C= (p.Leu702=) n.494C= c.972C= (p.Leu324=) | |
| 7 | g.5641259G>T | CA453640228 | RNF216 | c.2277C>A (p.Leu759=) c.*1394C>A (n.*1394C>A) c.2106C>A (p.Leu702=) n.494C>A c.972C>A (p.Leu324=) | |
| 7 | g.5641260A>C | CA366711233 | RNF216 | c.2276T>G (p.Leu759Arg) c.*1393T>G (n.*1393T>G) c.2105T>G (p.Leu702Arg) n.493T>G c.971T>G (p.Leu324Arg) | |
| 7 | g.5641260A>G | CA366711232 | RNF216 | c.2276T>C (p.Leu759Pro) c.*1393T>C (n.*1393T>C) c.2105T>C (p.Leu702Pro) n.493T>C c.971T>C (p.Leu324Pro) | |
| 7 | g.5641260A>T | CA366711228 | RNF216 | c.2276T>A (p.Leu759His) c.*1393T>A (n.*1393T>A) c.2105T>A (p.Leu702His) n.493T>A c.971T>A (p.Leu324His) | |
| 7 | g.5641261G>A | CA366711235 | RNF216 | c.2275C>T (p.Leu759Phe) c.*1392C>T (n.*1392C>T) c.2104C>T (p.Leu702Phe) n.492C>T c.970C>T (p.Leu324Phe) | dbSNP |
| 7 | g.5641261G>C | CA366711238 | RNF216 | c.2275C>G (p.Leu759Val) c.*1392C>G (n.*1392C>G) c.2104C>G (p.Leu702Val) n.492C>G c.970C>G (p.Leu324Val) | gnomAD v4 |
| 7 | g.5641261G= | CA1685037973 | RNF216 | c.2275C= (p.Leu759=) c.*1392C= (n.*1392C=) c.2104C= (p.Leu702=) n.492C= c.970C= (p.Leu324=) | |
| 7 | g.5641261G>T | CA366711241 | RNF216 | c.2275C>A (p.Leu759Ile) c.*1392C>A (n.*1392C>A) c.2104C>A (p.Leu702Ile) n.492C>A c.970C>A (p.Leu324Ile) | |
| 7 | g.5641262G>A | CA453640230 | RNF216 | c.2274C>T (p.Tyr758=) c.*1391C>T (n.*1391C>T) c.2103C>T (p.Tyr701=) n.491C>T c.969C>T (p.Tyr323=) | |
| 7 | g.5641262G>C | CA366711246 | RNF216 | c.2274C>G (p.Tyr758Ter) c.*1391C>G (n.*1391C>G) c.2103C>G (p.Tyr701Ter) n.491C>G c.969C>G (p.Tyr323Ter) | |
| 7 | g.5641262G>T | CA366711249 | RNF216 | c.2274C>A (p.Tyr758Ter) c.*1391C>A (n.*1391C>A) c.2103C>A (p.Tyr701Ter) n.491C>A c.969C>A (p.Tyr323Ter) | |
| 7 | g.5641263T>A | CA366711251 | RNF216 | c.2273A>T (p.Tyr758Phe) c.*1390A>T (n.*1390A>T) c.2102A>T (p.Tyr701Phe) n.490A>T c.968A>T (p.Tyr323Phe) | gnomAD v4 |
| 7 | g.5641263T>C | CA366711254 | RNF216 | c.2273A>G (p.Tyr758Cys) c.*1390A>G (n.*1390A>G) c.2102A>G (p.Tyr701Cys) n.490A>G c.968A>G (p.Tyr323Cys) | gnomAD v4 |
| 7 | g.5641263T>G | CA366711261 | RNF216 | c.2273A>C (p.Tyr758Ser) c.*1390A>C (n.*1390A>C) c.2102A>C (p.Tyr701Ser) n.490A>C c.968A>C (p.Tyr323Ser) | gnomAD v4 |
| 7 | g.5641264A= | CA1685037976 | RNF216 | c.2272T= (p.Tyr758=) c.*1389T= (n.*1389T=) c.2101T= (p.Tyr701=) n.489T= c.967T= (p.Tyr323=) | |
| 7 | g.5641264A>C | CA366711266 | RNF216 | c.2272T>G (p.Tyr758Asp) c.*1389T>G (n.*1389T>G) c.2101T>G (p.Tyr701Asp) n.489T>G c.967T>G (p.Tyr323Asp) | |
| 7 | g.5641264A>G | CA153208337 | RNF216 | c.2272T>C (p.Tyr758His) c.*1389T>C (n.*1389T>C) c.2101T>C (p.Tyr701His) n.489T>C c.967T>C (p.Tyr323His) | dbSNP gnomAD v4 |
| 7 | g.5641264A>T | CA366711272 | RNF216 | c.2272T>A (p.Tyr758Asn) c.*1389T>A (n.*1389T>A) c.2101T>A (p.Tyr701Asn) n.489T>A c.967T>A (p.Tyr323Asn) | |
| 7 | g.5641265G>A | CA453640231 | RNF216 | c.2271C>T (p.Cys757=) c.*1388C>T (n.*1388C>T) c.2100C>T (p.Cys700=) n.488C>T c.966C>T (p.Cys322=) | gnomAD v4 |
| 7 | g.5641265G>C | CA366711281 | RNF216 | c.2271C>G (p.Cys757Trp) c.*1388C>G (n.*1388C>G) c.2100C>G (p.Cys700Trp) n.488C>G c.966C>G (p.Cys322Trp) | |
| 7 | g.5641265G>T | CA366711287 | RNF216 | c.2271C>A (p.Cys757Ter) c.*1388C>A (n.*1388C>A) c.2100C>A (p.Cys700Ter) n.488C>A c.966C>A (p.Cys322Ter) | |
| 7 | g.5641266C>A | CA366711308 | RNF216 | c.2270G>T (p.Cys757Phe) c.*1387G>T (n.*1387G>T) c.2099G>T (p.Cys700Phe) n.487G>T c.965G>T (p.Cys322Phe) | |
| 7 | g.5641266C>G | CA366711301 | RNF216 | c.2270G>C (p.Cys757Ser) c.*1387G>C (n.*1387G>C) c.2099G>C (p.Cys700Ser) n.487G>C c.965G>C (p.Cys322Ser) | |
| 7 | g.5641266C>T | CA366711306 | RNF216 | c.2270G>A (p.Cys757Tyr) c.*1387G>A (n.*1387G>A) c.2099G>A (p.Cys700Tyr) n.487G>A c.965G>A (p.Cys322Tyr) | |
| 7 | g.5641267A>C | CA366711311 | RNF216 | c.2269T>G (p.Cys757Gly) c.*1386T>G (n.*1386T>G) c.2098T>G (p.Cys700Gly) n.486T>G c.964T>G (p.Cys322Gly) | |
| 7 | g.5641267A>G | CA366711315 | RNF216 | c.2269T>C (p.Cys757Arg) c.*1386T>C (n.*1386T>C) c.2098T>C (p.Cys700Arg) n.486T>C c.964T>C (p.Cys322Arg) | |
| 7 | g.5641267A>T | CA366711320 | RNF216 | c.2269T>A (p.Cys757Ser) c.*1386T>A (n.*1386T>A) c.2098T>A (p.Cys700Ser) n.486T>A c.964T>A (p.Cys322Ser) | |
| 7 | g.5641268C>A | CA366711326 | RNF216 | c.2268G>T (p.Met756Ile) c.*1385G>T (n.*1385G>T) c.2097G>T (p.Met699Ile) n.485G>T c.963G>T (p.Met321Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641268C= | CA1685037979 | RNF216 | c.2268G= (p.Met756=) c.*1385G= (n.*1385G=) c.2097G= (p.Met699=) n.485G= c.963G= (p.Met321=) | |
| 7 | g.5641268C>G | CA366711331 | RNF216 | c.2268G>C (p.Met756Ile) c.*1385G>C (n.*1385G>C) c.2097G>C (p.Met699Ile) n.485G>C c.963G>C (p.Met321Ile) | |
| 7 | g.5641268C>T | CA366711343 | RNF216 | c.2268G>A (p.Met756Ile) c.*1385G>A (n.*1385G>A) c.2097G>A (p.Met699Ile) n.485G>A c.963G>A (p.Met321Ile) | gnomAD v4 |
| 7 | g.5641269A>C | CA366711347 | RNF216 | c.2267T>G (p.Met756Arg) c.*1384T>G (n.*1384T>G) c.2096T>G (p.Met699Arg) n.484T>G c.962T>G (p.Met321Arg) | |
| 7 | g.5641269A>G | CA366711350 | RNF216 | c.2267T>C (p.Met756Thr) c.*1384T>C (n.*1384T>C) c.2096T>C (p.Met699Thr) n.484T>C c.962T>C (p.Met321Thr) | |
| 7 | g.5641269A>T | CA366711358 | RNF216 | c.2267T>A (p.Met756Lys) c.*1384T>A (n.*1384T>A) c.2096T>A (p.Met699Lys) n.484T>A c.962T>A (p.Met321Lys) | |
| 7 | g.5641270T>A | CA4147857 | RNF216 | c.2266A>T (p.Met756Leu) c.*1383A>T (n.*1383A>T) c.2095A>T (p.Met699Leu) n.483A>T c.961A>T (p.Met321Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641270T>C | CA366711367 | RNF216 | c.2266A>G (p.Met756Val) c.*1383A>G (n.*1383A>G) c.2095A>G (p.Met699Val) n.483A>G c.961A>G (p.Met321Val) | gnomAD v4 |
| 7 | g.5641270T>G | CA366711370 | RNF216 | c.2266A>C (p.Met756Leu) c.*1383A>C (n.*1383A>C) c.2095A>C (p.Met699Leu) n.483A>C c.961A>C (p.Met321Leu) | |
| 7 | g.5641270T= | CA1685037984 | RNF216 | c.2266A= (p.Met756=) c.*1383A= (n.*1383A=) c.2095A= (p.Met699=) n.483A= c.961A= (p.Met321=) | |
| 7 | g.5641271C>A | CA366711377 | RNF216 | c.2265G>T (p.Gln755His) c.*1382G>T (n.*1382G>T) c.2094G>T (p.Gln698His) n.482G>T c.960G>T (p.Gln320His) | |
| 7 | g.5641271C>G | CA366711373 | RNF216 | c.2265G>C (p.Gln755His) c.*1382G>C (n.*1382G>C) c.2094G>C (p.Gln698His) n.482G>C c.960G>C (p.Gln320His) | |
| 7 | g.5641271C>T | CA453640233 | RNF216 | c.2265G>A (p.Gln755=) c.*1382G>A (n.*1382G>A) c.2094G>A (p.Gln698=) n.482G>A c.960G>A (p.Gln320=) | |
| 7 | g.5641272T>A | CA366711384 | RNF216 | c.2264A>T (p.Gln755Leu) c.*1381A>T (n.*1381A>T) c.2093A>T (p.Gln698Leu) n.481A>T c.959A>T (p.Gln320Leu) | |
| 7 | g.5641272T>C | CA366711388 | RNF216 | c.2264A>G (p.Gln755Arg) c.*1381A>G (n.*1381A>G) c.2093A>G (p.Gln698Arg) n.481A>G c.959A>G (p.Gln320Arg) | gnomAD v4 |
| 7 | g.5641272T>G | CA366711391 | RNF216 | c.2264A>C (p.Gln755Pro) c.*1381A>C (n.*1381A>C) c.2093A>C (p.Gln698Pro) n.481A>C c.959A>C (p.Gln320Pro) | |
| 7 | g.5641273G>A | CA366711396 | RNF216 | c.2263C>T (p.Gln755Ter) c.*1380C>T (n.*1380C>T) c.2092C>T (p.Gln698Ter) n.480C>T c.958C>T (p.Gln320Ter) | |
| 7 | g.5641273G>C | CA366711401 | RNF216 | c.2263C>G (p.Gln755Glu) c.*1380C>G (n.*1380C>G) c.2092C>G (p.Gln698Glu) n.480C>G c.958C>G (p.Gln320Glu) | |
| 7 | g.5641273G>T | CA366711406 | RNF216 | c.2263C>A (p.Gln755Lys) c.*1380C>A (n.*1380C>A) c.2092C>A (p.Gln698Lys) n.480C>A c.958C>A (p.Gln320Lys) | |
| 7 | g.5641274G>A | CA453640234 | RNF216 | c.2262C>T (p.Ala754=) c.*1379C>T (n.*1379C>T) c.2091C>T (p.Ala697=) n.479C>T c.957C>T (p.Ala319=) | |
| 7 | g.5641274G>C | CA453640235 | RNF216 | c.2262C>G (p.Ala754=) c.*1379C>G (n.*1379C>G) c.2091C>G (p.Ala697=) n.479C>G c.957C>G (p.Ala319=) | |
| 7 | g.5641274G>T | CA453640236 | RNF216 | c.2262C>A (p.Ala754=) c.*1379C>A (n.*1379C>A) c.2091C>A (p.Ala697=) n.479C>A c.957C>A (p.Ala319=) | |
| 7 | g.5641275G>A | CA366711422 | RNF216 | c.2261C>T (p.Ala754Val) c.*1378C>T (n.*1378C>T) c.2090C>T (p.Ala697Val) n.478C>T c.956C>T (p.Ala319Val) | |
| 7 | g.5641275G>C | CA366711417 | RNF216 | c.2261C>G (p.Ala754Gly) c.*1378C>G (n.*1378C>G) c.2090C>G (p.Ala697Gly) n.478C>G c.956C>G (p.Ala319Gly) | |
| 7 | g.5641275G>T | CA366711414 | RNF216 | c.2261C>A (p.Ala754Asp) c.*1378C>A (n.*1378C>A) c.2090C>A (p.Ala697Asp) n.478C>A c.956C>A (p.Ala319Asp) | |
| 7 | g.5641276C>A | CA4147858 | RNF216 | c.2260G>T (p.Ala754Ser) c.*1377G>T (n.*1377G>T) c.2089G>T (p.Ala697Ser) n.477G>T c.955G>T (p.Ala319Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641276C= | CA1685037987 | RNF216 | c.2260G= (p.Ala754=) c.*1377G= (n.*1377G=) c.2089G= (p.Ala697=) n.477G= c.955G= (p.Ala319=) | |
| 7 | g.5641276C>G | CA366711429 | RNF216 | c.2260G>C (p.Ala754Pro) c.*1377G>C (n.*1377G>C) c.2089G>C (p.Ala697Pro) n.477G>C c.955G>C (p.Ala319Pro) | |
| 7 | g.5641276C>T | CA366711432 | RNF216 | c.2260G>A (p.Ala754Thr) c.*1377G>A (n.*1377G>A) c.2089G>A (p.Ala697Thr) n.477G>A c.955G>A (p.Ala319Thr) | gnomAD v4 |
| 7 | g.5641277A= | CA1685037991 | RNF216 | c.2259T= (p.Gly753=) c.*1376T= (n.*1376T=) c.2088T= (p.Gly696=) n.476T= c.954T= (p.Gly318=) | |
| 7 | g.5641277A>C | CA453640237 | RNF216 | c.2259T>G (p.Gly753=) c.*1376T>G (n.*1376T>G) c.2088T>G (p.Gly696=) n.476T>G c.954T>G (p.Gly318=) | gnomAD v4 |
| 7 | g.5641277A>G | CA453640238 | RNF216 | c.2259T>C (p.Gly753=) c.*1376T>C (n.*1376T>C) c.2088T>C (p.Gly696=) n.476T>C c.954T>C (p.Gly318=) | dbSNP |
| 7 | g.5641277A>T | CA453640239 | RNF216 | c.2259T>A (p.Gly753=) c.*1376T>A (n.*1376T>A) c.2088T>A (p.Gly696=) n.476T>A c.954T>A (p.Gly318=) | |
| 7 | g.5641278C>A | CA366711441 | RNF216 | c.2258G>T (p.Gly753Val) c.*1375G>T (n.*1375G>T) c.2087G>T (p.Gly696Val) n.475G>T c.953G>T (p.Gly318Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641278C= | CA1685037994 | RNF216 | c.2258G= (p.Gly753=) c.*1375G= (n.*1375G=) c.2087G= (p.Gly696=) n.475G= c.953G= (p.Gly318=) | |
| 7 | g.5641278C>G | CA366711445 | RNF216 | c.2258G>C (p.Gly753Ala) c.*1375G>C (n.*1375G>C) c.2087G>C (p.Gly696Ala) n.475G>C c.953G>C (p.Gly318Ala) | |
| 7 | g.5641278C>T | CA4147859 | RNF216 | c.2258G>A (p.Gly753Asp) c.*1375G>A (n.*1375G>A) c.2087G>A (p.Gly696Asp) n.475G>A c.953G>A (p.Gly318Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641279C>A | CA366711446 | RNF216 | c.2257G>T (p.Gly753Cys) c.*1374G>T (n.*1374G>T) c.2086G>T (p.Gly696Cys) n.474G>T c.952G>T (p.Gly318Cys) | |
| 7 | g.5641279C>G | CA366711458 | RNF216 | c.2257G>C (p.Gly753Arg) c.*1374G>C (n.*1374G>C) c.2086G>C (p.Gly696Arg) n.474G>C c.952G>C (p.Gly318Arg) | |
| 7 | g.5641279C>T | CA366711449 | RNF216 | c.2257G>A (p.Gly753Ser) c.*1374G>A (n.*1374G>A) c.2086G>A (p.Gly696Ser) n.474G>A c.952G>A (p.Gly318Ser) | |
| 7 | g.5641280A>C | CA366711464 | RNF216 | c.2256T>G (p.Cys752Trp) c.*1373T>G (n.*1373T>G) c.2085T>G (p.Cys695Trp) n.473T>G c.951T>G (p.Cys317Trp) | |
| 7 | g.5641280A>G | CA453640240 | RNF216 | c.2256T>C (p.Cys752=) c.*1373T>C (n.*1373T>C) c.2085T>C (p.Cys695=) n.473T>C c.951T>C (p.Cys317=) | gnomAD v4 |
| 7 | g.5641280A>T | CA366711472 | RNF216 | c.2256T>A (p.Cys752Ter) c.*1373T>A (n.*1373T>A) c.2085T>A (p.Cys695Ter) n.473T>A c.951T>A (p.Cys317Ter) | |
| 7 | g.5641281C>A | CA366711475 | RNF216 | c.2255G>T (p.Cys752Phe) c.*1372G>T (n.*1372G>T) c.2084G>T (p.Cys695Phe) n.472G>T c.950G>T (p.Cys317Phe) | |
| 7 | g.5641281C>G | CA366711479 | RNF216 | c.2255G>C (p.Cys752Ser) c.*1372G>C (n.*1372G>C) c.2084G>C (p.Cys695Ser) n.472G>C c.950G>C (p.Cys317Ser) | |
| 7 | g.5641281C>T | CA366711484 | RNF216 | c.2255G>A (p.Cys752Tyr) c.*1372G>A (n.*1372G>A) c.2084G>A (p.Cys695Tyr) n.472G>A c.950G>A (p.Cys317Tyr) | |
| 7 | g.5641282A>C | CA366711488 | RNF216 | c.2254T>G (p.Cys752Gly) c.*1371T>G (n.*1371T>G) c.2083T>G (p.Cys695Gly) n.471T>G c.949T>G (p.Cys317Gly) | |
| 7 | g.5641282A>G | CA366711492 | RNF216 | c.2254T>C (p.Cys752Arg) c.*1371T>C (n.*1371T>C) c.2083T>C (p.Cys695Arg) n.471T>C c.949T>C (p.Cys317Arg) | |
| 7 | g.5641282A>T | CA366711495 | RNF216 | c.2254T>A (p.Cys752Ser) c.*1371T>A (n.*1371T>A) c.2083T>A (p.Cys695Ser) n.471T>A c.949T>A (p.Cys317Ser) | |
| 7 | g.5641283G>A | CA4147860 | RNF216 | c.2253C>T (p.Arg751=) c.*1370C>T (n.*1370C>T) c.2082C>T (p.Arg694=) n.470C>T c.948C>T (p.Arg316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641283G>C | CA453640241 | RNF216 | c.2253C>G (p.Arg751=) c.*1370C>G (n.*1370C>G) c.2082C>G (p.Arg694=) n.470C>G c.948C>G (p.Arg316=) | dbSNP |
| 7 | g.5641283G= | CA1685037996 | RNF216 | c.2253C= (p.Arg751=) c.*1370C= (n.*1370C=) c.2082C= (p.Arg694=) n.470C= c.948C= (p.Arg316=) | |
| 7 | g.5641283G>T | CA453640242 | RNF216 | c.2253C>A (p.Arg751=) c.*1370C>A (n.*1370C>A) c.2082C>A (p.Arg694=) n.470C>A c.948C>A (p.Arg316=) | |
| 7 | g.5641284C>A | CA366711507 | RNF216 | c.2252G>T (p.Arg751Leu) c.*1369G>T (n.*1369G>T) c.2081G>T (p.Arg694Leu) n.469G>T c.947G>T (p.Arg316Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641284C= | CA1685038001 | RNF216 | c.2252G= (p.Arg751=) c.*1369G= (n.*1369G=) c.2081G= (p.Arg694=) n.469G= c.947G= (p.Arg316=) | |
| 7 | g.5641284C>G | CA366711509 | RNF216 | c.2252G>C (p.Arg751Pro) c.*1369G>C (n.*1369G>C) c.2081G>C (p.Arg694Pro) n.469G>C c.947G>C (p.Arg316Pro) | |
| 7 | g.5641284C>T | CA4147861 | RNF216 | c.2252G>A (p.Arg751His) c.*1369G>A (n.*1369G>A) c.2081G>A (p.Arg694His) n.469G>A c.947G>A (p.Arg316His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641285G>A | CA143853 | RNF216 | c.2251C>T (p.Arg751Cys) c.*1368C>T (n.*1368C>T) c.2080C>T (p.Arg694Cys) n.468C>T c.946C>T (p.Arg316Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.5641285G>C | CA366711528 | RNF216 | c.2251C>G (p.Arg751Gly) c.*1368C>G (n.*1368C>G) c.2080C>G (p.Arg694Gly) n.468C>G c.946C>G (p.Arg316Gly) | |
| 7 | g.5641285G= | CA1685038008 | RNF216 | c.2251C= (p.Arg751=) c.*1368C= (n.*1368C=) c.2080C= (p.Arg694=) n.468C= c.946C= (p.Arg316=) | |
| 7 | g.5641285G>T | CA366711538 | RNF216 | c.2251C>A (p.Arg751Ser) c.*1368C>A (n.*1368C>A) c.2080C>A (p.Arg694Ser) n.468C>A c.946C>A (p.Arg316Ser) | |
| 7 | g.5641286G>A | CA453640243 | RNF216 | c.2250C>T (p.Cys750=) c.*1367C>T (n.*1367C>T) c.2079C>T (p.Cys693=) n.467C>T c.945C>T (p.Cys315=) | |
| 7 | g.5641286G>C | CA366711547 | RNF216 | c.2250C>G (p.Cys750Trp) c.*1367C>G (n.*1367C>G) c.2079C>G (p.Cys693Trp) n.467C>G c.945C>G (p.Cys315Trp) | |
| 7 | g.5641286G>T | CA366711551 | RNF216 | c.2250C>A (p.Cys750Ter) c.*1367C>A (n.*1367C>A) c.2079C>A (p.Cys693Ter) n.467C>A c.945C>A (p.Cys315Ter) | |
| 7 | g.5641287C>A | CA366711555 | RNF216 | c.2249G>T (p.Cys750Phe) c.*1366G>T (n.*1366G>T) c.2078G>T (p.Cys693Phe) n.466G>T c.944G>T (p.Cys315Phe) | |
| 7 | g.5641287C>G | CA366711556 | RNF216 | c.2249G>C (p.Cys750Ser) c.*1366G>C (n.*1366G>C) c.2078G>C (p.Cys693Ser) n.466G>C c.944G>C (p.Cys315Ser) | |
| 7 | g.5641287C>T | CA366711557 | RNF216 | c.2249G>A (p.Cys750Tyr) c.*1366G>A (n.*1366G>A) c.2078G>A (p.Cys693Tyr) n.466G>A c.944G>A (p.Cys315Tyr) | |
| 7 | g.5641288A>C | CA366711573 | RNF216 | c.2248T>G (p.Cys750Gly) c.*1365T>G (n.*1365T>G) c.2077T>G (p.Cys693Gly) n.465T>G c.943T>G (p.Cys315Gly) | |
| 7 | g.5641288A>G | CA366711569 | RNF216 | c.2248T>C (p.Cys750Arg) c.*1365T>C (n.*1365T>C) c.2077T>C (p.Cys693Arg) n.465T>C c.943T>C (p.Cys315Arg) | |
| 7 | g.5641288A>T | CA366711568 | RNF216 | c.2248T>A (p.Cys750Ser) c.*1365T>A (n.*1365T>A) c.2077T>A (p.Cys693Ser) n.465T>A c.943T>A (p.Cys315Ser) | |
| 7 | g.5641289A= | CA1685038015 | RNF216 | c.2247T= (p.Ser749=) c.*1364T= (n.*1364T=) c.2076T= (p.Ser692=) n.464T= c.942T= (p.Ser314=) | |
| 7 | g.5641289A>C | CA453640244 | RNF216 | c.2247T>G (p.Ser749=) c.*1364T>G (n.*1364T>G) c.2076T>G (p.Ser692=) n.464T>G c.942T>G (p.Ser314=) | |
| 7 | g.5641289A>G | CA453640246 | RNF216 | c.2247T>C (p.Ser749=) c.*1364T>C (n.*1364T>C) c.2076T>C (p.Ser692=) n.464T>C c.942T>C (p.Ser314=) | dbSNP |
| 7 | g.5641289A>T | CA453640245 | RNF216 | c.2247T>A (p.Ser749=) c.*1364T>A (n.*1364T>A) c.2076T>A (p.Ser692=) n.464T>A c.942T>A (p.Ser314=) | |
| 7 | g.5641290G>A | CA366711580 | RNF216 | c.2246C>T (p.Ser749Phe) c.*1363C>T (n.*1363C>T) c.2075C>T (p.Ser692Phe) n.463C>T c.941C>T (p.Ser314Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641290G>C | CA366711586 | RNF216 | c.2246C>G (p.Ser749Cys) c.*1363C>G (n.*1363C>G) c.2075C>G (p.Ser692Cys) n.463C>G c.941C>G (p.Ser314Cys) | |
| 7 | g.5641290G= | CA1685038020 | RNF216 | c.2246C= (p.Ser749=) c.*1363C= (n.*1363C=) c.2075C= (p.Ser692=) n.463C= c.941C= (p.Ser314=) | |
| 7 | g.5641290G>T | CA366711590 | RNF216 | c.2246C>A (p.Ser749Tyr) c.*1363C>A (n.*1363C>A) c.2075C>A (p.Ser692Tyr) n.463C>A c.941C>A (p.Ser314Tyr) | gnomAD v4 |
| 7 | g.5641291A= | CA1685038025 | RNF216 | c.2245T= (p.Ser749=) c.*1362T= (n.*1362T=) c.2074T= (p.Ser692=) n.462T= c.940T= (p.Ser314=) | |
| 7 | g.5641291A>C | CA366711596 | RNF216 | c.2245T>G (p.Ser749Ala) c.*1362T>G (n.*1362T>G) c.2074T>G (p.Ser692Ala) n.462T>G c.940T>G (p.Ser314Ala) | |
| 7 | g.5641291A>G | CA4147862 | RNF216 | c.2245T>C (p.Ser749Pro) c.*1362T>C (n.*1362T>C) c.2074T>C (p.Ser692Pro) n.462T>C c.940T>C (p.Ser314Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641291A>T | CA366711600 | RNF216 | c.2245T>A (p.Ser749Thr) c.*1362T>A (n.*1362T>A) c.2074T>A (p.Ser692Thr) n.462T>A c.940T>A (p.Ser314Thr) | |
| 7 | g.5641292C>A | CA366711605 | RNF216 | c.2244G>T (p.Met748Ile) c.*1361G>T (n.*1361G>T) c.2073G>T (p.Met691Ile) n.461G>T c.939G>T (p.Met313Ile) | |
| 7 | g.5641292C= | CA1685038027 | RNF216 | c.2244G= (p.Met748=) c.*1361G= (n.*1361G=) c.2073G= (p.Met691=) n.461G= c.939G= (p.Met313=) | |
| 7 | g.5641292C>G | CA366711604 | RNF216 | c.2244G>C (p.Met748Ile) c.*1361G>C (n.*1361G>C) c.2073G>C (p.Met691Ile) n.461G>C c.939G>C (p.Met313Ile) | |
| 7 | g.5641292C>T | CA4147863 | RNF216 | c.2244G>A (p.Met748Ile) c.*1361G>A (n.*1361G>A) c.2073G>A (p.Met691Ile) n.461G>A c.939G>A (p.Met313Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.5641293A= | CA1685038032 | RNF216 | c.2243T= (p.Met748=) c.*1360T= (n.*1360T=) c.2072T= (p.Met691=) n.460T= c.938T= (p.Met313=) | |
| 7 | g.5641293A>C | CA366711610 | RNF216 | c.2243T>G (p.Met748Arg) c.*1360T>G (n.*1360T>G) c.2072T>G (p.Met691Arg) n.460T>G c.938T>G (p.Met313Arg) | |
| 7 | g.5641293A>G | CA366711615 | RNF216 | c.2243T>C (p.Met748Thr) c.*1360T>C (n.*1360T>C) c.2072T>C (p.Met691Thr) n.460T>C c.938T>C (p.Met313Thr) | ClinVar dbSNP |
| 7 | g.5641293A>T | CA366711618 | RNF216 | c.2243T>A (p.Met748Lys) c.*1360T>A (n.*1360T>A) c.2072T>A (p.Met691Lys) n.460T>A c.938T>A (p.Met313Lys) | |
| 7 | g.5641294T>A | CA366711621 | RNF216 | c.2242A>T (p.Met748Leu) c.*1359A>T (n.*1359A>T) c.2071A>T (p.Met691Leu) n.459A>T c.937A>T (p.Met313Leu) | |
| 7 | g.5641294T>C | CA366711624 | RNF216 | c.2242A>G (p.Met748Val) c.*1359A>G (n.*1359A>G) c.2071A>G (p.Met691Val) n.459A>G c.937A>G (p.Met313Val) | gnomAD v4 |
| 7 | g.5641294T>G | CA366711626 | RNF216 | c.2242A>C (p.Met748Leu) c.*1359A>C (n.*1359A>C) c.2071A>C (p.Met691Leu) n.459A>C c.937A>C (p.Met313Leu) | gnomAD v4 |
| 7 | g.5641295G>A | CA453640247 | RNF216 | c.2241C>T (p.Arg747=) c.*1358C>T (n.*1358C>T) c.2070C>T (p.Arg690=) n.458C>T c.936C>T (p.Arg312=) | |
| 7 | g.5641295G>C | CA453640248 | RNF216 | c.2241C>G (p.Arg747=) c.*1358C>G (n.*1358C>G) c.2070C>G (p.Arg690=) n.458C>G c.936C>G (p.Arg312=) | |
| 7 | g.5641295G>T | CA453640249 | RNF216 | c.2241C>A (p.Arg747=) c.*1358C>A (n.*1358C>A) c.2070C>A (p.Arg690=) n.458C>A c.936C>A (p.Arg312=) | |
| 7 | g.5641296C>A | CA4147864 | RNF216 | c.2240G>T (p.Arg747Leu) c.*1357G>T (n.*1357G>T) c.2069G>T (p.Arg690Leu) n.457G>T c.935G>T (p.Arg312Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641296C= | CA1685038034 | RNF216 | c.2240G= (p.Arg747=) c.*1357G= (n.*1357G=) c.2069G= (p.Arg690=) n.457G= c.935G= (p.Arg312=) | |
| 7 | g.5641296C>G | CA366711628 | RNF216 | c.2240G>C (p.Arg747Pro) c.*1357G>C (n.*1357G>C) c.2069G>C (p.Arg690Pro) n.457G>C c.935G>C (p.Arg312Pro) | |
| 7 | g.5641296C>T | CA4147865 | RNF216 | c.2240G>A (p.Arg747His) c.*1357G>A (n.*1357G>A) c.2069G>A (p.Arg690His) n.457G>A c.935G>A (p.Arg312His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.5641297G>A | CA366711633 | RNF216 | c.2239C>T (p.Arg747Cys) c.*1356C>T (n.*1356C>T) c.2068C>T (p.Arg690Cys) n.456C>T c.934C>T (p.Arg312Cys) | dbSNP gnomAD v4 |
| 7 | g.5641297G>C | CA366711639 | RNF216 | c.2239C>G (p.Arg747Gly) c.*1356C>G (n.*1356C>G) c.2068C>G (p.Arg690Gly) n.456C>G c.934C>G (p.Arg312Gly) | |
| 7 | g.5641297G= | CA1685038037 | RNF216 | c.2239C= (p.Arg747=) c.*1356C= (n.*1356C=) c.2068C= (p.Arg690=) n.456C= c.934C= (p.Arg312=) | |
| 7 | g.5641297G>T | CA366711642 | RNF216 | c.2239C>A (p.Arg747Ser) c.*1356C>A (n.*1356C>A) c.2068C>A (p.Arg690Ser) n.456C>A c.934C>A (p.Arg312Ser) | COSMIC |
| 7 | g.5641298G>A | CA4147866 | RNF216 | c.2238C>T (p.Asn746=) c.*1355C>T (n.*1355C>T) c.2067C>T (p.Asn689=) n.455C>T c.933C>T (p.Asn311=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641298G>C | CA366711645 | RNF216 | c.2238C>G (p.Asn746Lys) c.*1355C>G (n.*1355C>G) c.2067C>G (p.Asn689Lys) n.455C>G c.933C>G (p.Asn311Lys) | |
| 7 | g.5641298G= | CA1685038039 | RNF216 | c.2238C= (p.Asn746=) c.*1355C= (n.*1355C=) c.2067C= (p.Asn689=) n.455C= c.933C= (p.Asn311=) | |
| 7 | g.5641298G>T | CA366711644 | RNF216 | c.2238C>A (p.Asn746Lys) c.*1355C>A (n.*1355C>A) c.2067C>A (p.Asn689Lys) n.455C>A c.933C>A (p.Asn311Lys) | |
| 7 | g.5641299T>A | CA366711647 | RNF216 | c.2237A>T (p.Asn746Ile) c.*1354A>T (n.*1354A>T) c.2066A>T (p.Asn689Ile) n.454A>T c.932A>T (p.Asn311Ile) | |
| 7 | g.5641299T>C | CA366711649 | RNF216 | c.2237A>G (p.Asn746Ser) c.*1354A>G (n.*1354A>G) c.2066A>G (p.Asn689Ser) n.454A>G c.932A>G (p.Asn311Ser) | |
| 7 | g.5641299T>G | CA366711652 | RNF216 | c.2237A>C (p.Asn746Thr) c.*1354A>C (n.*1354A>C) c.2066A>C (p.Asn689Thr) n.454A>C c.932A>C (p.Asn311Thr) | |
| 7 | g.5641300T>A | CA366711669 | RNF216 | c.2236A>T (p.Asn746Tyr) c.*1353A>T (n.*1353A>T) c.2065A>T (p.Asn689Tyr) n.453A>T c.931A>T (p.Asn311Tyr) | |
| 7 | g.5641300T>C | CA366711671 | RNF216 | c.2236A>G (p.Asn746Asp) c.*1353A>G (n.*1353A>G) c.2065A>G (p.Asn689Asp) n.453A>G c.931A>G (p.Asn311Asp) | |
| 7 | g.5641300T>G | CA366711674 | RNF216 | c.2236A>C (p.Asn746His) c.*1353A>C (n.*1353A>C) c.2065A>C (p.Asn689His) n.453A>C c.931A>C (p.Asn311His) | dbSNP |
| 7 | g.5641300T= | CA1685038042 | RNF216 | c.2236A= (p.Asn746=) c.*1353A= (n.*1353A=) c.2065A= (p.Asn689=) n.453A= c.931A= (p.Asn311=) | |
| 7 | g.5641301G>A | CA453640250 | RNF216 | c.2235C>T (p.Cys745=) c.*1352C>T (n.*1352C>T) c.2064C>T (p.Cys688=) n.452C>T c.930C>T (p.Cys310=) | gnomAD v4 |
| 7 | g.5641301G>C | CA366711677 | RNF216 | c.2235C>G (p.Cys745Trp) c.*1352C>G (n.*1352C>G) c.2064C>G (p.Cys688Trp) n.452C>G c.930C>G (p.Cys310Trp) | |
| 7 | g.5641301G>T | CA366711678 | RNF216 | c.2235C>A (p.Cys745Ter) c.*1352C>A (n.*1352C>A) c.2064C>A (p.Cys688Ter) n.452C>A c.930C>A (p.Cys310Ter) | |
| 7 | g.5641302C>A | CA366711679 | RNF216 | c.2234G>T (p.Cys745Phe) c.*1351G>T (n.*1351G>T) c.2063G>T (p.Cys688Phe) n.451G>T c.929G>T (p.Cys310Phe) | |
| 7 | g.5641302C>G | CA366711680 | RNF216 | c.2234G>C (p.Cys745Ser) c.*1351G>C (n.*1351G>C) c.2063G>C (p.Cys688Ser) n.451G>C c.929G>C (p.Cys310Ser) | |
| 7 | g.5641302C>T | CA366711682 | RNF216 | c.2234G>A (p.Cys745Tyr) c.*1351G>A (n.*1351G>A) c.2063G>A (p.Cys688Tyr) n.451G>A c.929G>A (p.Cys310Tyr) | |
| 7 | g.5641303A>C | CA366711685 | RNF216 | c.2233T>G (p.Cys745Gly) c.*1350T>G (n.*1350T>G) c.2062T>G (p.Cys688Gly) n.450T>G c.928T>G (p.Cys310Gly) | |
| 7 | g.5641303A>G | CA366711687 | RNF216 | c.2233T>C (p.Cys745Arg) c.*1350T>C (n.*1350T>C) c.2062T>C (p.Cys688Arg) n.450T>C c.928T>C (p.Cys310Arg) | |
| 7 | g.5641303A>T | CA366711691 | RNF216 | c.2233T>A (p.Cys745Ser) c.*1350T>A (n.*1350T>A) c.2062T>A (p.Cys688Ser) n.450T>A c.928T>A (p.Cys310Ser) | |
| 7 | g.5641304G>A | CA453640253 | RNF216 | c.2232C>T (p.Gly744=) c.*1349C>T (n.*1349C>T) c.2061C>T (p.Gly687=) n.449C>T c.927C>T (p.Gly309=) | |
| 7 | g.5641304G>C | CA453640252 | RNF216 | c.2232C>G (p.Gly744=) c.*1349C>G (n.*1349C>G) c.2061C>G (p.Gly687=) n.449C>G c.927C>G (p.Gly309=) | gnomAD v4 |
| 7 | g.5641304G>T | CA453640251 | RNF216 | c.2232C>A (p.Gly744=) c.*1349C>A (n.*1349C>A) c.2061C>A (p.Gly687=) n.449C>A c.927C>A (p.Gly309=) | |
| 7 | g.5641305C>A | CA366711704 | RNF216 | c.2231G>T (p.Gly744Val) c.*1348G>T (n.*1348G>T) c.2060G>T (p.Gly687Val) n.448G>T c.926G>T (p.Gly309Val) | |
| 7 | g.5641305C>G | CA366711700 | RNF216 | c.2231G>C (p.Gly744Ala) c.*1348G>C (n.*1348G>C) c.2060G>C (p.Gly687Ala) n.448G>C c.926G>C (p.Gly309Ala) | |
| 7 | g.5641305C>T | CA366711697 | RNF216 | c.2231G>A (p.Gly744Asp) c.*1348G>A (n.*1348G>A) c.2060G>A (p.Gly687Asp) n.448G>A c.926G>A (p.Gly309Asp) | |
| 7 | g.5641306C>A | CA366711708 | RNF216 | c.2230G>T (p.Gly744Cys) c.*1347G>T (n.*1347G>T) c.2059G>T (p.Gly687Cys) n.447G>T c.925G>T (p.Gly309Cys) | dbSNP gnomAD v2 |
| 7 | g.5641306C= | CA1685038046 | RNF216 | c.2230G= (p.Gly744=) c.*1347G= (n.*1347G=) c.2059G= (p.Gly687=) n.447G= c.925G= (p.Gly309=) | |
| 7 | g.5641306C>G | CA4147867 | RNF216 | c.2230G>C (p.Gly744Arg) c.*1347G>C (n.*1347G>C) c.2059G>C (p.Gly687Arg) n.447G>C c.925G>C (p.Gly309Arg) | dbSNP ExAC |
| 7 | g.5641306C>T | CA366711714 | RNF216 | c.2230G>A (p.Gly744Ser) c.*1347G>A (n.*1347G>A) c.2059G>A (p.Gly687Ser) n.447G>A c.925G>A (p.Gly309Ser) | |
| 7 | g.5641307T>A | CA366711716 | RNF216 | c.2229A>T (p.Glu743Asp) c.*1346A>T (n.*1346A>T) c.2058A>T (p.Glu686Asp) n.446A>T c.924A>T (p.Glu308Asp) | |
| 7 | g.5641307T>C | CA453640254 | RNF216 | c.2229A>G (p.Glu743=) c.*1346A>G (n.*1346A>G) c.2058A>G (p.Glu686=) n.446A>G c.924A>G (p.Glu308=) | COSMIC |
| 7 | g.5641307T>G | CA366711717 | RNF216 | c.2229A>C (p.Glu743Asp) c.*1346A>C (n.*1346A>C) c.2058A>C (p.Glu686Asp) n.446A>C c.924A>C (p.Glu308Asp) | |
| 7 | g.5641308T>A | CA366711719 | RNF216 | c.2228A>T (p.Glu743Val) c.*1345A>T (n.*1345A>T) c.2057A>T (p.Glu686Val) n.445A>T c.923A>T (p.Glu308Val) | |
| 7 | g.5641308T>C | CA366711721 | RNF216 | c.2228A>G (p.Glu743Gly) c.*1345A>G (n.*1345A>G) c.2057A>G (p.Glu686Gly) n.445A>G c.923A>G (p.Glu308Gly) | |
| 7 | g.5641308T>G | CA366711723 | RNF216 | c.2228A>C (p.Glu743Ala) c.*1345A>C (n.*1345A>C) c.2057A>C (p.Glu686Ala) n.445A>C c.923A>C (p.Glu308Ala) | |
| 7 | g.5641309C>A | CA366711725 | RNF216 | c.2227G>T (p.Glu743Ter) c.*1344G>T (n.*1344G>T) c.2056G>T (p.Glu686Ter) n.444G>T c.922G>T (p.Glu308Ter) | |
| 7 | g.5641309C>G | CA366711727 | RNF216 | c.2227G>C (p.Glu743Gln) c.*1344G>C (n.*1344G>C) c.2056G>C (p.Glu686Gln) n.444G>C c.922G>C (p.Glu308Gln) | |
| 7 | g.5641309C>T | CA366711729 | RNF216 | c.2227G>A (p.Glu743Lys) c.*1344G>A (n.*1344G>A) c.2056G>A (p.Glu686Lys) n.444G>A c.922G>A (p.Glu308Lys) | |
| 7 | g.5641310A>C | CA453640255 | RNF216 | c.2226T>G (p.Ser742=) c.*1343T>G (n.*1343T>G) c.2055T>G (p.Ser685=) n.443T>G c.921T>G (p.Ser307=) | |
| 7 | g.5641310A>G | CA453640256 | RNF216 | c.2226T>C (p.Ser742=) c.*1343T>C (n.*1343T>C) c.2055T>C (p.Ser685=) n.443T>C c.921T>C (p.Ser307=) | |
| 7 | g.5641310A>T | CA453640257 | RNF216 | c.2226T>A (p.Ser742=) c.*1343T>A (n.*1343T>A) c.2055T>A (p.Ser685=) n.443T>A c.921T>A (p.Ser307=) | |
| 7 | g.5641311G>A | CA366711730 | RNF216 | c.2225C>T (p.Ser742Phe) c.*1342C>T (n.*1342C>T) c.2054C>T (p.Ser685Phe) n.442C>T c.920C>T (p.Ser307Phe) | |
| 7 | g.5641311G>C | CA366711733 | RNF216 | c.2225C>G (p.Ser742Cys) c.*1342C>G (n.*1342C>G) c.2054C>G (p.Ser685Cys) n.442C>G c.920C>G (p.Ser307Cys) | gnomAD v4 |
| 7 | g.5641311G>T | CA366711736 | RNF216 | c.2225C>A (p.Ser742Tyr) c.*1342C>A (n.*1342C>A) c.2054C>A (p.Ser685Tyr) n.442C>A c.920C>A (p.Ser307Tyr) | |
| 7 | g.5641312A>C | CA366711741 | RNF216 | c.2224T>G (p.Ser742Ala) c.*1341T>G (n.*1341T>G) c.2053T>G (p.Ser685Ala) n.441T>G c.919T>G (p.Ser307Ala) | |
| 7 | g.5641312A>G | CA366711743 | RNF216 | c.2224T>C (p.Ser742Pro) c.*1341T>C (n.*1341T>C) c.2053T>C (p.Ser685Pro) n.441T>C c.919T>C (p.Ser307Pro) | |
| 7 | g.5641312A>T | CA366711738 | RNF216 | c.2224T>A (p.Ser742Thr) c.*1341T>A (n.*1341T>A) c.2053T>A (p.Ser685Thr) n.441T>A c.919T>A (p.Ser307Thr) | |
| 7 | g.5641313T>A | CA366711746 | RNF216 | c.2223A>T (p.Lys741Asn) c.*1340A>T (n.*1340A>T) c.2052A>T (p.Lys684Asn) n.440A>T c.918A>T (p.Lys306Asn) | |
| 7 | g.5641313T>C | CA453640258 | RNF216 | c.2223A>G (p.Lys741=) c.*1340A>G (n.*1340A>G) c.2052A>G (p.Lys684=) n.440A>G c.918A>G (p.Lys306=) | dbSNP |
| 7 | g.5641313T>G | CA366711748 | RNF216 | c.2223A>C (p.Lys741Asn) c.*1340A>C (n.*1340A>C) c.2052A>C (p.Lys684Asn) n.440A>C c.918A>C (p.Lys306Asn) | |
| 7 | g.5641313T= | CA1685038050 | RNF216 | c.2223A= (p.Lys741=) c.*1340A= (n.*1340A=) c.2052A= (p.Lys684=) n.440A= c.918A= (p.Lys306=) | |
| 7 | g.5641314T>A | CA366711749 | RNF216 | c.2222A>T (p.Lys741Ile) c.*1339A>T (n.*1339A>T) c.2051A>T (p.Lys684Ile) n.439A>T c.917A>T (p.Lys306Ile) | |
| 7 | g.5641314T>C | CA366711750 | RNF216 | c.2222A>G (p.Lys741Arg) c.*1339A>G (n.*1339A>G) c.2051A>G (p.Lys684Arg) n.439A>G c.917A>G (p.Lys306Arg) | |
| 7 | g.5641314T>G | CA366711751 | RNF216 | c.2222A>C (p.Lys741Thr) c.*1339A>C (n.*1339A>C) c.2051A>C (p.Lys684Thr) n.439A>C c.917A>C (p.Lys306Thr) | |
| 7 | g.5641315T>A | CA366711757 | RNF216 | c.2221A>T (p.Lys741Ter) c.*1338A>T (n.*1338A>T) c.2050A>T (p.Lys684Ter) n.438A>T c.916A>T (p.Lys306Ter) | |
| 7 | g.5641315T>C | CA366711759 | RNF216 | c.2221A>G (p.Lys741Glu) c.*1338A>G (n.*1338A>G) c.2050A>G (p.Lys684Glu) n.438A>G c.916A>G (p.Lys306Glu) | |
| 7 | g.5641315T>G | CA366711760 | RNF216 | c.2221A>C (p.Lys741Gln) c.*1338A>C (n.*1338A>C) c.2050A>C (p.Lys684Gln) n.438A>C c.916A>C (p.Lys306Gln) | |
| 7 | g.5641316G>A | CA453640259 | RNF216 | c.2220C>T (p.Ile740=) c.*1337C>T (n.*1337C>T) c.2049C>T (p.Ile683=) n.437C>T c.915C>T (p.Ile305=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641316G>C | CA366711761 | RNF216 | c.2220C>G (p.Ile740Met) c.*1337C>G (n.*1337C>G) c.2049C>G (p.Ile683Met) n.437C>G c.915C>G (p.Ile305Met) | gnomAD v4 |
| 7 | g.5641316G= | CA1685038054 | RNF216 | c.2220C= (p.Ile740=) c.*1337C= (n.*1337C=) c.2049C= (p.Ile683=) n.437C= c.915C= (p.Ile305=) | |
| 7 | g.5641316G>T | CA453640260 | RNF216 | c.2220C>A (p.Ile740=) c.*1337C>A (n.*1337C>A) c.2049C>A (p.Ile683=) n.437C>A c.915C>A (p.Ile305=) | |
| 7 | g.5641317A= | CA1685038056 | RNF216 | c.2219T= (p.Ile740=) c.*1336T= (n.*1336T=) c.2048T= (p.Ile683=) n.436T= c.914T= (p.Ile305=) | |
| 7 | g.5641317A>C | CA366711765 | RNF216 | c.2219T>G (p.Ile740Ser) c.*1336T>G (n.*1336T>G) c.2048T>G (p.Ile683Ser) n.436T>G c.914T>G (p.Ile305Ser) | |
| 7 | g.5641317A>G | CA366711766 | RNF216 | c.2219T>C (p.Ile740Thr) c.*1336T>C (n.*1336T>C) c.2048T>C (p.Ile683Thr) n.436T>C c.914T>C (p.Ile305Thr) | dbSNP gnomAD v4 |
| 7 | g.5641317A>T | CA366711768 | RNF216 | c.2219T>A (p.Ile740Asn) c.*1336T>A (n.*1336T>A) c.2048T>A (p.Ile683Asn) n.436T>A c.914T>A (p.Ile305Asn) | |
| 7 | g.5641318T>A | CA366711774 | RNF216 | c.2218A>T (p.Ile740Phe) c.*1335A>T (n.*1335A>T) c.2047A>T (p.Ile683Phe) n.435A>T c.913A>T (p.Ile305Phe) | |
| 7 | g.5641318T>C | CA366711776 | RNF216 | c.2218A>G (p.Ile740Val) c.*1335A>G (n.*1335A>G) c.2047A>G (p.Ile683Val) n.435A>G c.913A>G (p.Ile305Val) | |
| 7 | g.5641318T>G | CA366711771 | RNF216 | c.2218A>C (p.Ile740Leu) c.*1335A>C (n.*1335A>C) c.2047A>C (p.Ile683Leu) n.435A>C c.913A>C (p.Ile305Leu) | |
| 7 | g.5641319G>A | CA453640261 | RNF216 | c.2217C>T (p.Leu739=) c.*1334C>T (n.*1334C>T) c.2046C>T (p.Leu682=) n.434C>T c.912C>T (p.Leu304=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641319G>C | CA453640262 | RNF216 | c.2217C>G (p.Leu739=) c.*1334C>G (n.*1334C>G) c.2046C>G (p.Leu682=) n.434C>G c.912C>G (p.Leu304=) | |
| 7 | g.5641319G= | CA1685038060 | RNF216 | c.2217C= (p.Leu739=) c.*1334C= (n.*1334C=) c.2046C= (p.Leu682=) n.434C= c.912C= (p.Leu304=) | |
| 7 | g.5641319G>T | CA453640263 | RNF216 | c.2217C>A (p.Leu739=) c.*1334C>A (n.*1334C>A) c.2046C>A (p.Leu682=) n.434C>A c.912C>A (p.Leu304=) | |
| 7 | g.5641320A>C | CA366711780 | RNF216 | c.2216T>G (p.Leu739Arg) c.*1333T>G (n.*1333T>G) c.2045T>G (p.Leu682Arg) n.433T>G c.911T>G (p.Leu304Arg) | |
| 7 | g.5641320A>G | CA366711782 | RNF216 | c.2216T>C (p.Leu739Pro) c.*1333T>C (n.*1333T>C) c.2045T>C (p.Leu682Pro) n.433T>C c.911T>C (p.Leu304Pro) | |
| 7 | g.5641320A>T | CA366711784 | RNF216 | c.2216T>A (p.Leu739His) c.*1333T>A (n.*1333T>A) c.2045T>A (p.Leu682His) n.433T>A c.911T>A (p.Leu304His) | |
| 7 | g.5641321G>A | CA366711787 | RNF216 | c.2215C>T (p.Leu739Phe) c.*1332C>T (n.*1332C>T) c.2044C>T (p.Leu682Phe) n.432C>T c.910C>T (p.Leu304Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641321G>C | CA366711789 | RNF216 | c.2215C>G (p.Leu739Val) c.*1332C>G (n.*1332C>G) c.2044C>G (p.Leu682Val) n.432C>G c.910C>G (p.Leu304Val) | |
| 7 | g.5641321G= | CA1685038063 | RNF216 | c.2215C= (p.Leu739=) c.*1332C= (n.*1332C=) c.2044C= (p.Leu682=) n.432C= c.910C= (p.Leu304=) | |
| 7 | g.5641321G>T | CA366711792 | RNF216 | c.2215C>A (p.Leu739Ile) c.*1332C>A (n.*1332C>A) c.2044C>A (p.Leu682Ile) n.432C>A c.910C>A (p.Leu304Ile) | |
| 7 | g.5641322G>A | CA453640264 | RNF216 | c.2214C>T (p.Gly738=) c.*1331C>T (n.*1331C>T) c.2043C>T (p.Gly681=) n.431C>T c.909C>T (p.Gly303=) | |
| 7 | g.5641322G>C | CA453640265 | RNF216 | c.2214C>G (p.Gly738=) c.*1331C>G (n.*1331C>G) c.2043C>G (p.Gly681=) n.431C>G c.909C>G (p.Gly303=) | gnomAD v4 |
| 7 | g.5641322G= | CA1685038067 | RNF216 | c.2214C= (p.Gly738=) c.*1331C= (n.*1331C=) c.2043C= (p.Gly681=) n.431C= c.909C= (p.Gly303=) | |
| 7 | g.5641322G>T | CA4147868 | RNF216 | c.2214C>A (p.Gly738=) c.*1331C>A (n.*1331C>A) c.2043C>A (p.Gly681=) n.431C>A c.909C>A (p.Gly303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641323C>A | CA366711794 | RNF216 | c.2213G>T (p.Gly738Val) c.*1330G>T (n.*1330G>T) c.2042G>T (p.Gly681Val) n.430G>T c.908G>T (p.Gly303Val) | COSMIC |
| 7 | g.5641323C= | CA1685038070 | RNF216 | c.2213G= (p.Gly738=) c.*1330G= (n.*1330G=) c.2042G= (p.Gly681=) n.430G= c.908G= (p.Gly303=) | |
| 7 | g.5641323C>G | CA366711795 | RNF216 | c.2213G>C (p.Gly738Ala) c.*1330G>C (n.*1330G>C) c.2042G>C (p.Gly681Ala) n.430G>C c.908G>C (p.Gly303Ala) | |
| 7 | g.5641323C>T | CA366711796 | RNF216 | c.2213G>A (p.Gly738Asp) c.*1330G>A (n.*1330G>A) c.2042G>A (p.Gly681Asp) n.430G>A c.908G>A (p.Gly303Asp) | dbSNP gnomAD v4 |