| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 7 | g.5641324C>A | CA366711798 | RNF216 | c.2212G>T (p.Gly738Cys) c.*1329G>T (n.*1329G>T) c.2041G>T (p.Gly681Cys) n.429G>T c.907G>T (p.Gly303Cys) | |
| 7 | g.5641324C>G | CA366711800 | RNF216 | c.2212G>C (p.Gly738Arg) c.*1329G>C (n.*1329G>C) c.2041G>C (p.Gly681Arg) n.429G>C c.907G>C (p.Gly303Arg) | |
| 7 | g.5641324C>T | CA366711802 | RNF216 | c.2212G>A (p.Gly738Ser) c.*1329G>A (n.*1329G>A) c.2041G>A (p.Gly681Ser) n.429G>A c.907G>A (p.Gly303Ser) | |
| 7 | g.5641325A>C | CA453640266 | RNF216 | c.2211T>G (p.Thr737=) c.*1328T>G (n.*1328T>G) c.2040T>G (p.Thr680=) n.428T>G c.906T>G (p.Thr302=) | |
| 7 | g.5641325A>G | CA453640267 | RNF216 | c.2211T>C (p.Thr737=) c.*1328T>C (n.*1328T>C) c.2040T>C (p.Thr680=) n.428T>C c.906T>C (p.Thr302=) | |
| 7 | g.5641325A>T | CA453640268 | RNF216 | c.2211T>A (p.Thr737=) c.*1328T>A (n.*1328T>A) c.2040T>A (p.Thr680=) n.428T>A c.906T>A (p.Thr302=) | |
| 7 | g.5641326G>A | CA366711805 | RNF216 | c.2210C>T (p.Thr737Ile) c.*1327C>T (n.*1327C>T) c.2039C>T (p.Thr680Ile) n.427C>T c.905C>T (p.Thr302Ile) | |
| 7 | g.5641326G>C | CA4147869 | RNF216 | c.2210C>G (p.Thr737Ser) c.*1327C>G (n.*1327C>G) c.2039C>G (p.Thr680Ser) n.427C>G c.905C>G (p.Thr302Ser) | dbSNP ExAC gnomAD v2 |
| 7 | g.5641326G= | CA1685038073 | RNF216 | c.2210C= (p.Thr737=) c.*1327C= (n.*1327C=) c.2039C= (p.Thr680=) n.427C= c.905C= (p.Thr302=) | |
| 7 | g.5641326G>T | CA4147870 | RNF216 | c.2210C>A (p.Thr737Asn) c.*1327C>A (n.*1327C>A) c.2039C>A (p.Thr680Asn) n.427C>A c.905C>A (p.Thr302Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641327T>A | CA366711808 | RNF216 | c.2209A>T (p.Thr737Ser) c.*1326A>T (n.*1326A>T) c.2038A>T (p.Thr680Ser) n.426A>T c.904A>T (p.Thr302Ser) | |
| 7 | g.5641327T>C | CA366711813 | RNF216 | c.2209A>G (p.Thr737Ala) c.*1326A>G (n.*1326A>G) c.2038A>G (p.Thr680Ala) n.426A>G c.904A>G (p.Thr302Ala) | |
| 7 | g.5641327T>G | CA366711811 | RNF216 | c.2209A>C (p.Thr737Pro) c.*1326A>C (n.*1326A>C) c.2038A>C (p.Thr680Pro) n.426A>C c.904A>C (p.Thr302Pro) | |
| 7 | g.5641328C>A | CA453640269 | RNF216 | c.2208G>T (p.Gly736=) c.*1325G>T (n.*1325G>T) c.2037G>T (p.Gly679=) n.425G>T c.903G>T (p.Gly301=) | |
| 7 | g.5641328C>G | CA453640271 | RNF216 | c.2208G>C (p.Gly736=) c.*1325G>C (n.*1325G>C) c.2037G>C (p.Gly679=) n.425G>C c.903G>C (p.Gly301=) | |
| 7 | g.5641328C>T | CA453640270 | RNF216 | c.2208G>A (p.Gly736=) c.*1325G>A (n.*1325G>A) c.2037G>A (p.Gly679=) n.425G>A c.903G>A (p.Gly301=) | |
| 7 | g.5641329C>A | CA366711815 | RNF216 | c.2207G>T (p.Gly736Val) c.*1324G>T (n.*1324G>T) c.2036G>T (p.Gly679Val) n.424G>T c.902G>T (p.Gly301Val) | |
| 7 | g.5641329C>G | CA366711817 | RNF216 | c.2207G>C (p.Gly736Ala) c.*1324G>C (n.*1324G>C) c.2036G>C (p.Gly679Ala) n.424G>C c.902G>C (p.Gly301Ala) | |
| 7 | g.5641329C>T | CA366711819 | RNF216 | c.2207G>A (p.Gly736Glu) c.*1324G>A (n.*1324G>A) c.2036G>A (p.Gly679Glu) n.424G>A c.902G>A (p.Gly301Glu) | |
| 7 | g.5641330C>A | CA366711822 | RNF216 | c.2206G>T (p.Gly736Trp) c.*1323G>T (n.*1323G>T) c.2035G>T (p.Gly679Trp) n.423G>T c.901G>T (p.Gly301Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641330C= | CA1685038077 | RNF216 | c.2206G= (p.Gly736=) c.*1323G= (n.*1323G=) c.2035G= (p.Gly679=) n.423G= c.901G= (p.Gly301=) | |
| 7 | g.5641330C>G | CA366711824 | RNF216 | c.2206G>C (p.Gly736Arg) c.*1323G>C (n.*1323G>C) c.2035G>C (p.Gly679Arg) n.423G>C c.901G>C (p.Gly301Arg) | |
| 7 | g.5641330C>T | CA366711825 | RNF216 | c.2206G>A (p.Gly736Arg) c.*1323G>A (n.*1323G>A) c.2035G>A (p.Gly679Arg) n.423G>A c.901G>A (p.Gly301Arg) | |
| 7 | g.5641331A>C | CA366711828 | RNF216 | c.2205T>G (p.Cys735Trp) c.*1322T>G (n.*1322T>G) c.2034T>G (p.Cys678Trp) n.422T>G c.900T>G (p.Cys300Trp) | |
| 7 | g.5641331A>G | CA453640272 | RNF216 | c.2205T>C (p.Cys735=) c.*1322T>C (n.*1322T>C) c.2034T>C (p.Cys678=) n.422T>C c.900T>C (p.Cys300=) | |
| 7 | g.5641331A>T | CA366711830 | RNF216 | c.2205T>A (p.Cys735Ter) c.*1322T>A (n.*1322T>A) c.2034T>A (p.Cys678Ter) n.422T>A c.900T>A (p.Cys300Ter) | |
| 7 | g.5641332C>A | CA366711833 | RNF216 | c.2204G>T (p.Cys735Phe) c.*1321G>T (n.*1321G>T) c.2033G>T (p.Cys678Phe) n.421G>T c.899G>T (p.Cys300Phe) | |
| 7 | g.5641332C>G | CA366711835 | RNF216 | c.2204G>C (p.Cys735Ser) c.*1321G>C (n.*1321G>C) c.2033G>C (p.Cys678Ser) n.421G>C c.899G>C (p.Cys300Ser) | |
| 7 | g.5641332C>T | CA366711837 | RNF216 | c.2204G>A (p.Cys735Tyr) c.*1321G>A (n.*1321G>A) c.2033G>A (p.Cys678Tyr) n.421G>A c.899G>A (p.Cys300Tyr) | gnomAD v4 |
| 7 | g.5641333A>C | CA366711843 | RNF216 | c.2203T>G (p.Cys735Gly) c.*1320T>G (n.*1320T>G) c.2032T>G (p.Cys678Gly) n.420T>G c.898T>G (p.Cys300Gly) | |
| 7 | g.5641333A>G | CA366711839 | RNF216 | c.2203T>C (p.Cys735Arg) c.*1320T>C (n.*1320T>C) c.2032T>C (p.Cys678Arg) n.420T>C c.898T>C (p.Cys300Arg) | |
| 7 | g.5641333A>T | CA366711841 | RNF216 | c.2203T>A (p.Cys735Ser) c.*1320T>A (n.*1320T>A) c.2032T>A (p.Cys678Ser) n.420T>A c.898T>A (p.Cys300Ser) | |
| 7 | g.5641334C>A | CA366711846 | RNF216 | c.2202G>T (p.Lys734Asn) c.*1319G>T (n.*1319G>T) c.2031G>T (p.Lys677Asn) n.419G>T c.897G>T (p.Lys299Asn) | |
| 7 | g.5641334C>G | CA366711849 | RNF216 | c.2202G>C (p.Lys734Asn) c.*1319G>C (n.*1319G>C) c.2031G>C (p.Lys677Asn) n.419G>C c.897G>C (p.Lys299Asn) | |
| 7 | g.5641334C>T | CA453640273 | RNF216 | c.2202G>A (p.Lys734=) c.*1319G>A (n.*1319G>A) c.2031G>A (p.Lys677=) n.419G>A c.897G>A (p.Lys299=) | |
| 7 | g.5641335T>A | CA366711851 | RNF216 | c.2201A>T (p.Lys734Met) c.*1318A>T (n.*1318A>T) c.2030A>T (p.Lys677Met) n.418A>T c.896A>T (p.Lys299Met) | |
| 7 | g.5641335T>C | CA366711854 | RNF216 | c.2201A>G (p.Lys734Arg) c.*1318A>G (n.*1318A>G) c.2030A>G (p.Lys677Arg) n.418A>G c.896A>G (p.Lys299Arg) | gnomAD v4 |
| 7 | g.5641335T>G | CA366711856 | RNF216 | c.2201A>C (p.Lys734Thr) c.*1318A>C (n.*1318A>C) c.2030A>C (p.Lys677Thr) n.418A>C c.896A>C (p.Lys299Thr) | |
| 7 | g.5641336T>A | CA366711859 | RNF216 | c.2200A>T (p.Lys734Ter) c.*1317A>T (n.*1317A>T) c.2029A>T (p.Lys677Ter) n.417A>T c.895A>T (p.Lys299Ter) | |
| 7 | g.5641336T>C | CA366711860 | RNF216 | c.2200A>G (p.Lys734Glu) c.*1317A>G (n.*1317A>G) c.2029A>G (p.Lys677Glu) n.417A>G c.895A>G (p.Lys299Glu) | |
| 7 | g.5641336T>G | CA366711861 | RNF216 | c.2200A>C (p.Lys734Gln) c.*1317A>C (n.*1317A>C) c.2029A>C (p.Lys677Gln) n.417A>C c.895A>C (p.Lys299Gln) | |
| 7 | g.5641337G>A | CA453640274 | RNF216 | c.2199C>T (p.His733=) c.*1316C>T (n.*1316C>T) c.2028C>T (p.His676=) n.416C>T c.894C>T (p.His298=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641337G>C | CA366711863 | RNF216 | c.2199C>G (p.His733Gln) c.*1316C>G (n.*1316C>G) c.2028C>G (p.His676Gln) n.416C>G c.894C>G (p.His298Gln) | gnomAD v4 |
| 7 | g.5641337G= | CA1685038079 | RNF216 | c.2199C= (p.His733=) c.*1316C= (n.*1316C=) c.2028C= (p.His676=) n.416C= c.894C= (p.His298=) | |
| 7 | g.5641337G>T | CA366711866 | RNF216 | c.2199C>A (p.His733Gln) c.*1316C>A (n.*1316C>A) c.2028C>A (p.His676Gln) n.416C>A c.894C>A (p.His298Gln) | |
| 7 | g.5641338T>A | CA366711872 | RNF216 | c.2198A>T (p.His733Leu) c.*1315A>T (n.*1315A>T) c.2027A>T (p.His676Leu) n.415A>T c.893A>T (p.His298Leu) | gnomAD v4 |
| 7 | g.5641338T>C | CA366711874 | RNF216 | c.2198A>G (p.His733Arg) c.*1315A>G (n.*1315A>G) c.2027A>G (p.His676Arg) n.415A>G c.893A>G (p.His298Arg) | gnomAD v4 |
| 7 | g.5641338T>G | CA366711869 | RNF216 | c.2198A>C (p.His733Pro) c.*1315A>C (n.*1315A>C) c.2027A>C (p.His676Pro) n.415A>C c.893A>C (p.His298Pro) | |
| 7 | g.5641339G>A | CA366711876 | RNF216 | c.2197C>T (p.His733Tyr) c.*1314C>T (n.*1314C>T) c.2026C>T (p.His676Tyr) n.414C>T c.892C>T (p.His298Tyr) | |
| 7 | g.5641339G>C | CA366711879 | RNF216 | c.2197C>G (p.His733Asp) c.*1314C>G (n.*1314C>G) c.2026C>G (p.His676Asp) n.414C>G c.892C>G (p.His298Asp) | |
| 7 | g.5641339G>T | CA366711881 | RNF216 | c.2197C>A (p.His733Asn) c.*1314C>A (n.*1314C>A) c.2026C>A (p.His676Asn) n.414C>A c.892C>A (p.His298Asn) | |
| 7 | g.5641340G>A | CA153208373 | RNF216 | c.2196C>T (p.Cys732=) c.*1313C>T (n.*1313C>T) c.2025C>T (p.Cys675=) n.413C>T c.891C>T (p.Cys297=) | dbSNP gnomAD v4 |
| 7 | g.5641340G>C | CA366711886 | RNF216 | c.2196C>G (p.Cys732Trp) c.*1313C>G (n.*1313C>G) c.2025C>G (p.Cys675Trp) n.413C>G c.891C>G (p.Cys297Trp) | |
| 7 | g.5641340G= | CA1685038081 | RNF216 | c.2196C= (p.Cys732=) c.*1313C= (n.*1313C=) c.2025C= (p.Cys675=) n.413C= c.891C= (p.Cys297=) | |
| 7 | g.5641340G>T | CA366711888 | RNF216 | c.2196C>A (p.Cys732Ter) c.*1313C>A (n.*1313C>A) c.2025C>A (p.Cys675Ter) n.413C>A c.891C>A (p.Cys297Ter) | |
| 7 | g.5641341C>A | CA366711897 | RNF216 | c.2195G>T (p.Cys732Phe) c.*1312G>T (n.*1312G>T) c.2024G>T (p.Cys675Phe) n.412G>T c.890G>T (p.Cys297Phe) | |
| 7 | g.5641341C>G | CA366711891 | RNF216 | c.2195G>C (p.Cys732Ser) c.*1312G>C (n.*1312G>C) c.2024G>C (p.Cys675Ser) n.412G>C c.890G>C (p.Cys297Ser) | |
| 7 | g.5641341C>T | CA366711894 | RNF216 | c.2195G>A (p.Cys732Tyr) c.*1312G>A (n.*1312G>A) c.2024G>A (p.Cys675Tyr) n.412G>A c.890G>A (p.Cys297Tyr) | |
| 7 | g.5641342A>C | CA366711900 | RNF216 | c.2194T>G (p.Cys732Gly) c.*1311T>G (n.*1311T>G) c.2023T>G (p.Cys675Gly) n.411T>G c.889T>G (p.Cys297Gly) | |
| 7 | g.5641342A>G | CA366711903 | RNF216 | c.2194T>C (p.Cys732Arg) c.*1311T>C (n.*1311T>C) c.2023T>C (p.Cys675Arg) n.411T>C c.889T>C (p.Cys297Arg) | |
| 7 | g.5641342A>T | CA366711905 | RNF216 | c.2194T>A (p.Cys732Ser) c.*1311T>A (n.*1311T>A) c.2023T>A (p.Cys675Ser) n.411T>A c.889T>A (p.Cys297Ser) | |
| 7 | g.5641343T>A | CA366711906 | RNF216 | c.2193A>T (p.Lys731Asn) c.*1310A>T (n.*1310A>T) c.2022A>T (p.Lys674Asn) n.410A>T c.888A>T (p.Lys296Asn) | |
| 7 | g.5641343T>C | CA453640275 | RNF216 | c.2193A>G (p.Lys731=) c.*1310A>G (n.*1310A>G) c.2022A>G (p.Lys674=) n.410A>G c.888A>G (p.Lys296=) | |
| 7 | g.5641343T>G | CA366711907 | RNF216 | c.2193A>C (p.Lys731Asn) c.*1310A>C (n.*1310A>C) c.2022A>C (p.Lys674Asn) n.410A>C c.888A>C (p.Lys296Asn) | |
| 7 | g.5641344T>A | CA366711908 | RNF216 | c.2192A>T (p.Lys731Ile) c.*1309A>T (n.*1309A>T) c.2021A>T (p.Lys674Ile) n.409A>T c.887A>T (p.Lys296Ile) | gnomAD v4 |
| 7 | g.5641344T>C | CA366711910 | RNF216 | c.2192A>G (p.Lys731Arg) c.*1309A>G (n.*1309A>G) c.2021A>G (p.Lys674Arg) n.409A>G c.887A>G (p.Lys296Arg) | |
| 7 | g.5641344T>G | CA366711909 | RNF216 | c.2192A>C (p.Lys731Thr) c.*1309A>C (n.*1309A>C) c.2021A>C (p.Lys674Thr) n.409A>C c.887A>C (p.Lys296Thr) | |
| 7 | g.5641345T>A | CA366711911 | RNF216 | c.2191A>T (p.Lys731Ter) c.*1308A>T (n.*1308A>T) c.2020A>T (p.Lys674Ter) n.408A>T c.886A>T (p.Lys296Ter) | COSMIC |
| 7 | g.5641345T>C | CA366711912 | RNF216 | c.2191A>G (p.Lys731Glu) c.*1308A>G (n.*1308A>G) c.2020A>G (p.Lys674Glu) n.408A>G c.886A>G (p.Lys296Glu) | |
| 7 | g.5641345T>G | CA366711913 | RNF216 | c.2191A>C (p.Lys731Gln) c.*1308A>C (n.*1308A>C) c.2020A>C (p.Lys674Gln) n.408A>C c.886A>C (p.Lys296Gln) | |
| 7 | g.5641346T>A | CA366711914 | RNF216 | c.2190A>T (p.Arg730Ser) c.*1307A>T (n.*1307A>T) c.2019A>T (p.Arg673Ser) n.407A>T c.885A>T (p.Arg295Ser) | |
| 7 | g.5641346T>C | CA453640276 | RNF216 | c.2190A>G (p.Arg730=) c.*1307A>G (n.*1307A>G) c.2019A>G (p.Arg673=) n.407A>G c.885A>G (p.Arg295=) | |
| 7 | g.5641346T>G | CA366711915 | RNF216 | c.2190A>C (p.Arg730Ser) c.*1307A>C (n.*1307A>C) c.2019A>C (p.Arg673Ser) n.407A>C c.885A>C (p.Arg295Ser) | |
| 7 | g.5641347C>A | CA366711916 | RNF216 | c.2189G>T (p.Arg730Ile) c.*1306G>T (n.*1306G>T) c.2018G>T (p.Arg673Ile) n.406G>T c.884G>T (p.Arg295Ile) | |
| 7 | g.5641347C>G | CA366711917 | RNF216 | c.2189G>C (p.Arg730Thr) c.*1306G>C (n.*1306G>C) c.2018G>C (p.Arg673Thr) n.406G>C c.884G>C (p.Arg295Thr) | |
| 7 | g.5641347C>T | CA366711918 | RNF216 | c.2189G>A (p.Arg730Lys) c.*1306G>A (n.*1306G>A) c.2018G>A (p.Arg673Lys) n.406G>A c.884G>A (p.Arg295Lys) | gnomAD v4 |
| 7 | g.5641348T>A | CA366711919 | RNF216 | c.2188A>T (p.Arg730Ter) c.*1305A>T (n.*1305A>T) c.2017A>T (p.Arg673Ter) n.405A>T n.492A>T c.883A>T (p.Arg295Ter) | |
| 7 | g.5641348T>C | CA366711920 | RNF216 | c.2188A>G (p.Arg730Gly) c.*1305A>G (n.*1305A>G) c.2017A>G (p.Arg673Gly) n.405A>G n.492A>G c.883A>G (p.Arg295Gly) | |
| 7 | g.5641348T>G | CA453640277 | RNF216 | c.2188A>C (p.Arg730=) c.*1305A>C (n.*1305A>C) c.2017A>C (p.Arg673=) n.405A>C n.492A>C c.883A>C (p.Arg295=) | |
| 7 | g.5641349A>C | CA366711921 | RNF216 | c.2187T>G (p.Ile729Met) c.*1304T>G (n.*1304T>G) c.2016T>G (p.Ile672Met) n.404T>G n.491T>G c.882T>G (p.Ile294Met) | |
| 7 | g.5641349A>G | CA453640278 | RNF216 | c.2187T>C (p.Ile729=) c.*1304T>C (n.*1304T>C) c.2016T>C (p.Ile672=) n.404T>C n.491T>C c.882T>C (p.Ile294=) | |
| 7 | g.5641349A>T | CA453640279 | RNF216 | c.2187T>A (p.Ile729=) c.*1304T>A (n.*1304T>A) c.2016T>A (p.Ile672=) n.404T>A n.491T>A c.882T>A (p.Ile294=) | |
| 7 | g.5641350A>C | CA366711922 | RNF216 | c.2186T>G (p.Ile729Ser) c.*1303T>G (n.*1303T>G) c.2015T>G (p.Ile672Ser) n.403T>G n.490T>G c.881T>G (p.Ile294Ser) | |
| 7 | g.5641350A>G | CA366711924 | RNF216 | c.2186T>C (p.Ile729Thr) c.*1303T>C (n.*1303T>C) c.2015T>C (p.Ile672Thr) n.403T>C n.490T>C c.881T>C (p.Ile294Thr) | gnomAD v4 |
| 7 | g.5641350A>T | CA366711923 | RNF216 | c.2186T>A (p.Ile729Asn) c.*1303T>A (n.*1303T>A) c.2015T>A (p.Ile672Asn) n.403T>A n.490T>A c.881T>A (p.Ile294Asn) | |
| 7 | g.5641351T>A | CA366711925 | RNF216 | c.2185A>T (p.Ile729Phe) c.*1302A>T (n.*1302A>T) c.2014A>T (p.Ile672Phe) n.402A>T n.489A>T c.880A>T (p.Ile294Phe) | |
| 7 | g.5641351T>C | CA366711927 | RNF216 | c.2185A>G (p.Ile729Val) c.*1302A>G (n.*1302A>G) c.2014A>G (p.Ile672Val) n.402A>G n.489A>G c.880A>G (p.Ile294Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641351T>G | CA366711926 | RNF216 | c.2185A>C (p.Ile729Leu) c.*1302A>C (n.*1302A>C) c.2014A>C (p.Ile672Leu) n.402A>C n.489A>C c.880A>C (p.Ile294Leu) | |
| 7 | g.5641351T= | CA1685038085 | RNF216 | c.2185A= (p.Ile729=) c.*1302A= (n.*1302A=) c.2014A= (p.Ile672=) n.402A= n.489A= c.880A= (p.Ile294=) | |
| 7 | g.5641352G>A | CA453640280 | RNF216 | c.2184C>T (p.Arg728=) c.*1301C>T (n.*1301C>T) c.2013C>T (p.Arg671=) n.401C>T n.488C>T c.879C>T (p.Arg293=) | gnomAD v4 |
| 7 | g.5641352G>C | CA453640281 | RNF216 | c.2184C>G (p.Arg728=) c.*1301C>G (n.*1301C>G) c.2013C>G (p.Arg671=) n.401C>G n.488C>G c.879C>G (p.Arg293=) | |
| 7 | g.5641352G>T | CA453640282 | RNF216 | c.2184C>A (p.Arg728=) c.*1301C>A (n.*1301C>A) c.2013C>A (p.Arg671=) n.401C>A n.488C>A c.879C>A (p.Arg293=) | |
| 7 | g.5641353C>A | CA366711928 | RNF216 | c.2183G>T (p.Arg728Leu) c.*1300G>T (n.*1300G>T) c.2012G>T (p.Arg671Leu) n.400G>T n.487G>T c.878G>T (p.Arg293Leu) | |
| 7 | g.5641353C= | CA1685038092 | RNF216 | c.2183G= (p.Arg728=) c.*1300G= (n.*1300G=) c.2012G= (p.Arg671=) n.400G= n.487G= c.878G= (p.Arg293=) | |
| 7 | g.5641353C>G | CA366711929 | RNF216 | c.2183G>C (p.Arg728Pro) c.*1300G>C (n.*1300G>C) c.2012G>C (p.Arg671Pro) n.400G>C n.487G>C c.878G>C (p.Arg293Pro) | |
| 7 | g.5641353C>T | CA4147871 | RNF216 | c.2183G>A (p.Arg728His) c.*1300G>A (n.*1300G>A) c.2012G>A (p.Arg671His) n.400G>A n.487G>A c.878G>A (p.Arg293His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641354G>A | CA153208376 | RNF216 | c.2182C>T (p.Arg728Cys) c.*1299C>T (n.*1299C>T) c.2011C>T (p.Arg671Cys) n.399C>T n.486C>T c.877C>T (p.Arg293Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641354G>C | CA366711931 | RNF216 | c.2182C>G (p.Arg728Gly) c.*1299C>G (n.*1299C>G) c.2011C>G (p.Arg671Gly) n.399C>G n.486C>G c.877C>G (p.Arg293Gly) | dbSNP |
| 7 | g.5641354G= | CA1685038096 | RNF216 | c.2182C= (p.Arg728=) c.*1299C= (n.*1299C=) c.2011C= (p.Arg671=) n.399C= n.486C= c.877C= (p.Arg293=) | |
| 7 | g.5641354G>T | CA366711930 | RNF216 | c.2182C>A (p.Arg728Ser) c.*1299C>A (n.*1299C>A) c.2011C>A (p.Arg671Ser) n.399C>A n.486C>A c.877C>A (p.Arg293Ser) | |
| 7 | g.5641355G>A | CA453640283 | RNF216 | c.2181C>T (p.Ala727=) c.*1298C>T (n.*1298C>T) c.2010C>T (p.Ala670=) n.398C>T n.485C>T c.876C>T (p.Ala292=) | gnomAD v4 |
| 7 | g.5641355G>C | CA453640284 | RNF216 | c.2181C>G (p.Ala727=) c.*1298C>G (n.*1298C>G) c.2010C>G (p.Ala670=) n.398C>G n.485C>G c.876C>G (p.Ala292=) | |
| 7 | g.5641355G>T | CA453640285 | RNF216 | c.2181C>A (p.Ala727=) c.*1298C>A (n.*1298C>A) c.2010C>A (p.Ala670=) n.398C>A n.485C>A c.876C>A (p.Ala292=) | gnomAD v4 |
| 7 | g.5641356G>A | CA366711932 | RNF216 | c.2180C>T (p.Ala727Val) c.*1297C>T (n.*1297C>T) c.2009C>T (p.Ala670Val) n.397C>T n.484C>T c.875C>T (p.Ala292Val) | gnomAD v4 |
| 7 | g.5641356G>C | CA366711933 | RNF216 | c.2180C>G (p.Ala727Gly) c.*1297C>G (n.*1297C>G) c.2009C>G (p.Ala670Gly) n.397C>G n.484C>G c.875C>G (p.Ala292Gly) | |
| 7 | g.5641356G>T | CA366711934 | RNF216 | c.2180C>A (p.Ala727Asp) c.*1297C>A (n.*1297C>A) c.2009C>A (p.Ala670Asp) n.397C>A n.484C>A c.875C>A (p.Ala292Asp) | |
| 7 | g.5641357C>A | CA366711935 | RNF216 | c.2179G>T (p.Ala727Ser) c.*1296G>T (n.*1296G>T) c.2008G>T (p.Ala670Ser) n.396G>T n.483G>T c.874G>T (p.Ala292Ser) | |
| 7 | g.5641357C= | CA1685038100 | RNF216 | c.2179G= (p.Ala727=) c.*1296G= (n.*1296G=) c.2008G= (p.Ala670=) n.396G= n.483G= c.874G= (p.Ala292=) | |
| 7 | g.5641357C>G | CA366711936 | RNF216 | c.2179G>C (p.Ala727Pro) c.*1296G>C (n.*1296G>C) c.2008G>C (p.Ala670Pro) n.396G>C n.483G>C c.874G>C (p.Ala292Pro) | |
| 7 | g.5641357C>T | CA366711937 | RNF216 | c.2179G>A (p.Ala727Thr) c.*1296G>A (n.*1296G>A) c.2008G>A (p.Ala670Thr) n.396G>A n.483G>A c.874G>A (p.Ala292Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641358A>C | CA453640288 | RNF216 | c.2178T>G (p.Ala726=) c.*1295T>G (n.*1295T>G) c.2007T>G (p.Ala669=) n.395T>G n.482T>G c.873T>G (p.Ala291=) | |
| 7 | g.5641358A>G | CA453640287 | RNF216 | c.2178T>C (p.Ala726=) c.*1295T>C (n.*1295T>C) c.2007T>C (p.Ala669=) n.395T>C n.482T>C c.873T>C (p.Ala291=) | gnomAD v4 |
| 7 | g.5641358A>T | CA453640286 | RNF216 | c.2178T>A (p.Ala726=) c.*1295T>A (n.*1295T>A) c.2007T>A (p.Ala669=) n.395T>A n.482T>A c.873T>A (p.Ala291=) | |
| 7 | g.5641359G>A | CA366711938 | RNF216 | c.2177C>T (p.Ala726Val) c.*1294C>T (n.*1294C>T) c.2006C>T (p.Ala669Val) n.394C>T n.481C>T c.872C>T (p.Ala291Val) | |
| 7 | g.5641359G>C | CA366711939 | RNF216 | c.2177C>G (p.Ala726Gly) c.*1294C>G (n.*1294C>G) c.2006C>G (p.Ala669Gly) n.394C>G n.481C>G c.872C>G (p.Ala291Gly) | |
| 7 | g.5641359G>T | CA366711940 | RNF216 | c.2177C>A (p.Ala726Asp) c.*1294C>A (n.*1294C>A) c.2006C>A (p.Ala669Asp) n.394C>A n.481C>A c.872C>A (p.Ala291Asp) | |
| 7 | g.5641360C>A | CA366711941 | RNF216 | c.2176G>T (p.Ala726Ser) c.*1293G>T (n.*1293G>T) c.2005G>T (p.Ala669Ser) n.393G>T n.480G>T c.871G>T (p.Ala291Ser) | gnomAD v4 |
| 7 | g.5641360C= | CA1685038105 | RNF216 | c.2176G= (p.Ala726=) c.*1293G= (n.*1293G=) c.2005G= (p.Ala669=) n.393G= n.480G= c.871G= (p.Ala291=) | |
| 7 | g.5641360C>G | CA366711942 | RNF216 | c.2176G>C (p.Ala726Pro) c.*1293G>C (n.*1293G>C) c.2005G>C (p.Ala669Pro) n.393G>C n.480G>C c.871G>C (p.Ala291Pro) | |
| 7 | g.5641360C>T | CA366711943 | RNF216 | c.2176G>A (p.Ala726Thr) c.*1293G>A (n.*1293G>A) c.2005G>A (p.Ala669Thr) n.393G>A n.480G>A c.871G>A (p.Ala291Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641361A= | CA1685038109 | RNF216 | c.2175T= (p.Thr725=) c.*1292T= (n.*1292T=) c.2004T= (p.Thr668=) n.392T= n.479T= c.870T= (p.Thr290=) | |
| 7 | g.5641361A>C | CA453640289 | RNF216 | c.2175T>G (p.Thr725=) c.*1292T>G (n.*1292T>G) c.2004T>G (p.Thr668=) n.392T>G n.479T>G c.870T>G (p.Thr290=) | |
| 7 | g.5641361A>G | CA4147872 | RNF216 | c.2175T>C (p.Thr725=) c.*1292T>C (n.*1292T>C) c.2004T>C (p.Thr668=) n.392T>C n.479T>C c.870T>C (p.Thr290=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641361A>T | CA453640290 | RNF216 | c.2175T>A (p.Thr725=) c.*1292T>A (n.*1292T>A) c.2004T>A (p.Thr668=) n.392T>A n.479T>A c.870T>A (p.Thr290=) | dbSNP |
| 7 | g.5641362G>A | CA366711946 | RNF216 | c.2174C>T (p.Thr725Ile) c.*1291C>T (n.*1291C>T) c.2003C>T (p.Thr668Ile) n.391C>T n.478C>T c.869C>T (p.Thr290Ile) | dbSNP |
| 7 | g.5641362G>C | CA366711944 | RNF216 | c.2174C>G (p.Thr725Ser) c.*1291C>G (n.*1291C>G) c.2003C>G (p.Thr668Ser) n.391C>G n.478C>G c.869C>G (p.Thr290Ser) | |
| 7 | g.5641362G= | CA1685038112 | RNF216 | c.2174C= (p.Thr725=) c.*1291C= (n.*1291C=) c.2003C= (p.Thr668=) n.391C= n.478C= c.869C= (p.Thr290=) | |
| 7 | g.5641362G>T | CA366711945 | RNF216 | c.2174C>A (p.Thr725Asn) c.*1291C>A (n.*1291C>A) c.2003C>A (p.Thr668Asn) n.391C>A n.478C>A c.869C>A (p.Thr290Asn) | |
| 7 | g.5641363T>A | CA366711947 | RNF216 | c.2173A>T (p.Thr725Ser) c.*1290A>T (n.*1290A>T) c.2002A>T (p.Thr668Ser) n.390A>T n.477A>T c.868A>T (p.Thr290Ser) | |
| 7 | g.5641363T>C | CA366711948 | RNF216 | c.2173A>G (p.Thr725Ala) c.*1290A>G (n.*1290A>G) c.2002A>G (p.Thr668Ala) n.390A>G n.477A>G c.868A>G (p.Thr290Ala) | |
| 7 | g.5641363T>G | CA366711949 | RNF216 | c.2173A>C (p.Thr725Pro) c.*1290A>C (n.*1290A>C) c.2002A>C (p.Thr668Pro) n.390A>C n.477A>C c.868A>C (p.Thr290Pro) | |
| 7 | g.5641364C>A | CA366711950 | RNF216 | c.2172G>T (p.Met724Ile) c.*1289G>T (n.*1289G>T) c.2001G>T (p.Met667Ile) n.389G>T n.476G>T c.867G>T (p.Met289Ile) | |
| 7 | g.5641364C>G | CA366711951 | RNF216 | c.2172G>C (p.Met724Ile) c.*1289G>C (n.*1289G>C) c.2001G>C (p.Met667Ile) n.389G>C n.476G>C c.867G>C (p.Met289Ile) | |
| 7 | g.5641364C>T | CA366711952 | RNF216 | c.2172G>A (p.Met724Ile) c.*1289G>A (n.*1289G>A) c.2001G>A (p.Met667Ile) n.389G>A n.476G>A c.867G>A (p.Met289Ile) | |
| 7 | g.5641365A>C | CA366711953 | RNF216 | c.2171T>G (p.Met724Arg) c.*1288T>G (n.*1288T>G) c.2000T>G (p.Met667Arg) n.388T>G n.475T>G c.866T>G (p.Met289Arg) | |
| 7 | g.5641365A>G | CA366711954 | RNF216 | c.2171T>C (p.Met724Thr) c.*1288T>C (n.*1288T>C) c.2000T>C (p.Met667Thr) n.388T>C n.475T>C c.866T>C (p.Met289Thr) | |
| 7 | g.5641365A>T | CA366711955 | RNF216 | c.2171T>A (p.Met724Lys) c.*1288T>A (n.*1288T>A) c.2000T>A (p.Met667Lys) n.388T>A n.475T>A c.866T>A (p.Met289Lys) | |
| 7 | g.5641366T>A | CA366711956 | RNF216 | c.2170A>T (p.Met724Leu) c.*1287A>T (n.*1287A>T) c.1999A>T (p.Met667Leu) n.387A>T n.474A>T c.865A>T (p.Met289Leu) | gnomAD v4 |
| 7 | g.5641366T>C | CA366711957 | RNF216 | c.2170A>G (p.Met724Val) c.*1287A>G (n.*1287A>G) c.1999A>G (p.Met667Val) n.387A>G n.474A>G c.865A>G (p.Met289Val) | |
| 7 | g.5641366T>G | CA366711958 | RNF216 | c.2170A>C (p.Met724Leu) c.*1287A>C (n.*1287A>C) c.1999A>C (p.Met667Leu) n.387A>C n.474A>C c.865A>C (p.Met289Leu) | |
| 7 | g.5641371del | CA2578822606 | RNF216 | c.2170del (p.Met724Ter) c.*1287del (n.*1287del) c.1999del (p.Met667Ter) n.387del n.474del c.865del (p.Met289Ter) | gnomAD v4 |
| 7 | g.5641367T>A | CA366711959 | RNF216 | c.2169A>T (p.Lys723Asn) c.*1286A>T (n.*1286A>T) c.1998A>T (p.Lys666Asn) n.386A>T n.473A>T c.864A>T (p.Lys288Asn) | |
| 7 | g.5641367T>C | CA453640291 | RNF216 | c.2169A>G (p.Lys723=) c.*1286A>G (n.*1286A>G) c.1998A>G (p.Lys666=) n.386A>G n.473A>G c.864A>G (p.Lys288=) | |
| 7 | g.5641367T>G | CA366711960 | RNF216 | c.2169A>C (p.Lys723Asn) c.*1286A>C (n.*1286A>C) c.1998A>C (p.Lys666Asn) n.386A>C n.473A>C c.864A>C (p.Lys288Asn) | |
| 7 | g.5641368T>A | CA366711961 | RNF216 | c.2168A>T (p.Lys723Ile) c.*1285A>T (n.*1285A>T) c.1997A>T (p.Lys666Ile) n.385A>T n.472A>T c.863A>T (p.Lys288Ile) | |
| 7 | g.5641368T>C | CA366711962 | RNF216 | c.2168A>G (p.Lys723Arg) c.*1285A>G (n.*1285A>G) c.1997A>G (p.Lys666Arg) n.385A>G n.472A>G c.863A>G (p.Lys288Arg) | gnomAD v4 |
| 7 | g.5641368T>G | CA366711963 | RNF216 | c.2168A>C (p.Lys723Thr) c.*1285A>C (n.*1285A>C) c.1997A>C (p.Lys666Thr) n.385A>C n.472A>C c.863A>C (p.Lys288Thr) | |
| 7 | g.5641369T>A | CA366711964 | RNF216 | c.2167A>T (p.Lys723Ter) c.*1284A>T (n.*1284A>T) c.1996A>T (p.Lys666Ter) n.384A>T n.471A>T c.862A>T (p.Lys288Ter) | |
| 7 | g.5641369T>C | CA153208381 | RNF216 | c.2167A>G (p.Lys723Glu) c.*1284A>G (n.*1284A>G) c.1996A>G (p.Lys666Glu) n.384A>G n.471A>G c.862A>G (p.Lys288Glu) | dbSNP gnomAD v4 |
| 7 | g.5641369T>G | CA366711965 | RNF216 | c.2167A>C (p.Lys723Gln) c.*1284A>C (n.*1284A>C) c.1996A>C (p.Lys666Gln) n.384A>C n.471A>C c.862A>C (p.Lys288Gln) | |
| 7 | g.5641369T= | CA1685038116 | RNF216 | c.2167A= (p.Lys723=) c.*1284A= (n.*1284A=) c.1996A= (p.Lys666=) n.384A= n.471A= c.862A= (p.Lys288=) | |
| 7 | g.5641370T>A | CA366711966 | RNF216 | c.2166A>T (p.Glu722Asp) c.*1283A>T (n.*1283A>T) c.1995A>T (p.Glu665Asp) n.383A>T n.470A>T c.861A>T (p.Glu287Asp) | gnomAD v4 |
| 7 | g.5641370T>C | CA4147873 | RNF216 | c.2166A>G (p.Glu722=) c.*1283A>G (n.*1283A>G) c.1995A>G (p.Glu665=) n.383A>G n.470A>G c.861A>G (p.Glu287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641370T>G | CA366711967 | RNF216 | c.2166A>C (p.Glu722Asp) c.*1283A>C (n.*1283A>C) c.1995A>C (p.Glu665Asp) n.383A>C n.470A>C c.861A>C (p.Glu287Asp) | |
| 7 | g.5641370T= | CA1685038119 | RNF216 | c.2166A= (p.Glu722=) c.*1283A= (n.*1283A=) c.1995A= (p.Glu665=) n.383A= n.470A= c.861A= (p.Glu287=) | |
| 7 | g.5641371T>A | CA366711968 | RNF216 | c.2165A>T (p.Glu722Val) c.*1282A>T (n.*1282A>T) c.1994A>T (p.Glu665Val) n.382A>T n.469A>T c.860A>T (p.Glu287Val) | gnomAD v4 |
| 7 | g.5641371T>C | CA366711969 | RNF216 | c.2165A>G (p.Glu722Gly) c.*1282A>G (n.*1282A>G) c.1994A>G (p.Glu665Gly) n.382A>G n.469A>G c.860A>G (p.Glu287Gly) | dbSNP |
| 7 | g.5641371T>G | CA366711970 | RNF216 | c.2165A>C (p.Glu722Ala) c.*1282A>C (n.*1282A>C) c.1994A>C (p.Glu665Ala) n.382A>C n.469A>C c.860A>C (p.Glu287Ala) | |
| 7 | g.5641371T= | CA1685038123 | RNF216 | c.2165A= (p.Glu722=) c.*1282A= (n.*1282A=) c.1994A= (p.Glu665=) n.382A= n.469A= c.860A= (p.Glu287=) | |
| 7 | g.5641372C>A | CA366711972 | RNF216 | c.2164G>T (p.Glu722Ter) c.*1281G>T (n.*1281G>T) c.1993G>T (p.Glu665Ter) n.381G>T n.468G>T c.859G>T (p.Glu287Ter) | gnomAD v4 |
| 7 | g.5641372C>G | CA366711973 | RNF216 | c.2164G>C (p.Glu722Gln) c.*1281G>C (n.*1281G>C) c.1993G>C (p.Glu665Gln) n.381G>C n.468G>C c.859G>C (p.Glu287Gln) | |
| 7 | g.5641372C>T | CA366711971 | RNF216 | c.2164G>A (p.Glu722Lys) c.*1281G>A (n.*1281G>A) c.1993G>A (p.Glu665Lys) n.381G>A n.468G>A c.859G>A (p.Glu287Lys) | |
| 7 | g.5641373T>A | CA366711974 | RNF216 | c.2163A>T (p.Glu721Asp) c.*1280A>T (n.*1280A>T) c.1992A>T (p.Glu664Asp) n.380A>T n.467A>T c.858A>T (p.Glu286Asp) | |
| 7 | g.5641373T>C | CA453640292 | RNF216 | c.2163A>G (p.Glu721=) c.*1280A>G (n.*1280A>G) c.1992A>G (p.Glu664=) n.380A>G n.467A>G c.858A>G (p.Glu286=) | |
| 7 | g.5641373T>G | CA366711975 | RNF216 | c.2163A>C (p.Glu721Asp) c.*1280A>C (n.*1280A>C) c.1992A>C (p.Glu664Asp) n.380A>C n.467A>C c.858A>C (p.Glu286Asp) | |
| 7 | g.5641374T>A | CA366711976 | RNF216 | c.2162A>T (p.Glu721Val) c.*1279A>T (n.*1279A>T) c.1991A>T (p.Glu664Val) n.379A>T n.466A>T c.857A>T (p.Glu286Val) | |
| 7 | g.5641374T>C | CA366711977 | RNF216 | c.2162A>G (p.Glu721Gly) c.*1279A>G (n.*1279A>G) c.1991A>G (p.Glu664Gly) n.379A>G n.466A>G c.857A>G (p.Glu286Gly) | gnomAD v4 |
| 7 | g.5641374T>G | CA366711978 | RNF216 | c.2162A>C (p.Glu721Ala) c.*1279A>C (n.*1279A>C) c.1991A>C (p.Glu664Ala) n.379A>C n.466A>C c.857A>C (p.Glu286Ala) | |
| 7 | g.5641375C>A | CA366711981 | RNF216 | c.2161G>T (p.Glu721Ter) c.*1278G>T (n.*1278G>T) c.1990G>T (p.Glu664Ter) n.378G>T n.465G>T c.856G>T (p.Glu286Ter) | |
| 7 | g.5641375C>G | CA366711979 | RNF216 | c.2161G>C (p.Glu721Gln) c.*1278G>C (n.*1278G>C) c.1990G>C (p.Glu664Gln) n.378G>C n.465G>C c.856G>C (p.Glu286Gln) | |
| 7 | g.5641375C>T | CA366711980 | RNF216 | c.2161G>A (p.Glu721Lys) c.*1278G>A (n.*1278G>A) c.1990G>A (p.Glu664Lys) n.378G>A n.465G>A c.856G>A (p.Glu286Lys) | |
| 7 | g.5641376A= | CA1685038128 | RNF216 | c.2160T= (p.Ile720=) c.*1277T= (n.*1277T=) c.1989T= (p.Ile663=) n.377T= n.464T= c.855T= (p.Ile285=) | |
| 7 | g.5641376A>C | CA153208389 | RNF216 | c.2160T>G (p.Ile720Met) c.*1277T>G (n.*1277T>G) c.1989T>G (p.Ile663Met) n.377T>G n.464T>G c.855T>G (p.Ile285Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641376A>G | CA453640293 | RNF216 | c.2160T>C (p.Ile720=) c.*1277T>C (n.*1277T>C) c.1989T>C (p.Ile663=) n.377T>C n.464T>C c.855T>C (p.Ile285=) | |
| 7 | g.5641376A>T | CA4147874 | RNF216 | c.2160T>A (p.Ile720=) c.*1277T>A (n.*1277T>A) c.1989T>A (p.Ile663=) n.377T>A n.464T>A c.855T>A (p.Ile285=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641376_5641377insATAGAGGTACGGTACTTGATGTCGTCTTTTTCAGCCAGCTCTTCACAGGTGAGGCCATTATGTTCTTTCCAGAGTCC | CA2774263707 | RNF216 | c.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT (n.2160-1_2160insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT) c.*1277-1_*1277insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT (n.*1277-1_*1277insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT) c.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT (n.1989-1_1989insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT) n.377-1_377insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT n.464-1_464insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT c.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT (n.855-1_855insGGACTCTGGAAAGAACATAATGGCCTCACCTGTGAAGAGCTGGCTGAAAAAGACGACATCAAGTACCGTACCTCTAT) | |
| 7 | g.5641377C>A | CA366711982 | RNF216 | c.2160-1G>T (n.2160-1G>T) c.*1277-1G>T (n.*1277-1G>T) c.1989-1G>T (n.1989-1G>T) n.377-1G>T n.464-1G>T c.855-1G>T (n.855-1G>T) | COSMIC |
| 7 | g.5641377C= | CA1685038131 | RNF216 | c.2160-1G= (n.2160-1G=) c.*1277-1G= (n.*1277-1G=) c.1989-1G= (n.1989-1G=) n.377-1G= n.464-1G= c.855-1G= (n.855-1G=) | |
| 7 | g.5641377C>G | CA366711983 | RNF216 | c.2160-1G>C (n.2160-1G>C) c.*1277-1G>C (n.*1277-1G>C) c.1989-1G>C (n.1989-1G>C) n.377-1G>C n.464-1G>C c.855-1G>C (n.855-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641377C>T | CA366711984 | RNF216 | c.2160-1G>A (n.2160-1G>A) c.*1277-1G>A (n.*1277-1G>A) c.1989-1G>A (n.1989-1G>A) n.377-1G>A n.464-1G>A c.855-1G>A (n.855-1G>A) | |
| 7 | g.5641378T>A | CA366711985 | RNF216 | c.2160-2A>T (n.2160-2A>T) c.*1277-2A>T (n.*1277-2A>T) c.1989-2A>T (n.1989-2A>T) n.377-2A>T n.464-2A>T c.855-2A>T (n.855-2A>T) | |
| 7 | g.5641378T>C | CA366711987 | RNF216 | c.2160-2A>G (n.2160-2A>G) c.*1277-2A>G (n.*1277-2A>G) c.1989-2A>G (n.1989-2A>G) n.377-2A>G n.464-2A>G c.855-2A>G (n.855-2A>G) | gnomAD v4 |
| 7 | g.5641378T>G | CA366711986 | RNF216 | c.2160-2A>C (n.2160-2A>C) c.*1277-2A>C (n.*1277-2A>C) c.1989-2A>C (n.1989-2A>C) n.377-2A>C n.464-2A>C c.855-2A>C (n.855-2A>C) | |
| 7 | g.5641379G>A | CA572822300 | RNF216 | c.2160-3C>T (n.2160-3C>T) c.*1277-3C>T (n.*1277-3C>T) c.1989-3C>T (n.1989-3C>T) n.377-3C>T n.464-3C>T c.855-3C>T (n.855-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641379G= | CA1685038134 | RNF216 | c.2160-3C= (n.2160-3C=) c.*1277-3C= (n.*1277-3C=) c.1989-3C= (n.1989-3C=) n.377-3C= n.464-3C= c.855-3C= (n.855-3C=) | |
| 7 | g.5641383T>C | CA4147875 | RNF216 | c.2160-7A>G (n.2160-7A>G) c.*1277-7A>G (n.*1277-7A>G) c.1989-7A>G (n.1989-7A>G) n.377-7A>G n.464-7A>G c.855-7A>G (n.855-7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641383T= | CA1685038135 | RNF216 | c.2160-7A= (n.2160-7A=) c.*1277-7A= (n.*1277-7A=) c.1989-7A= (n.1989-7A=) n.377-7A= n.464-7A= c.855-7A= (n.855-7A=) |