| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.133775432G>A | CA354610040 | TF | c.1688-1G>A (n.1688-1G>A) c.419-1G>A n.2681G>A c.1556-1G>A (n.1556-1G>A) c.1307-1G>A (n.1307-1G>A) | gnomAD v4 |
| 3 | g.133775432G>C | CA354610041 | TF | c.1688-1G>C (n.1688-1G>C) c.419-1G>C n.2681G>C c.1556-1G>C (n.1556-1G>C) c.1307-1G>C (n.1307-1G>C) | |
| 3 | g.133775432G>T | CA354610043 | TF | c.1688-1G>T (n.1688-1G>T) c.419-1G>T n.2681G>T c.1556-1G>T (n.1556-1G>T) c.1307-1G>T (n.1307-1G>T) | |
| 3 | g.133775433G>A | CA83692721 | TF | c.1688G>A (p.Gly563Glu) c.419G>A n.2682G>A c.1556G>A (p.Gly519Glu) c.1307G>A (p.Gly436Glu) | dbSNP COSMIC |
| 3 | g.133775433G>C | CA354610046 | TF | c.1688G>C (p.Gly563Ala) c.419G>C n.2682G>C c.1556G>C (p.Gly519Ala) c.1307G>C (p.Gly436Ala) | |
| 3 | g.133775433G= | CA1403130724 | TF | c.1688G= (p.Gly563=) c.419G= n.2682G= c.1556G= (p.Gly519=) c.1307G= (p.Gly436=) | |
| 3 | g.133775433G>T | CA354610047 | TF | c.1688G>T (p.Gly563Val) c.419G>T n.2682G>T c.1556G>T (p.Gly519Val) c.1307G>T (p.Gly436Val) | |
| 3 | g.133775434A>C | CA435815795 | TF | c.1689A>C (p.Gly563=) c.420A>C n.2683A>C c.1557A>C (p.Gly519=) c.1308A>C (p.Gly436=) | |
| 3 | g.133775434A>G | CA435815796 | TF | c.1689A>G (p.Gly563=) c.420A>G n.2683A>G c.1557A>G (p.Gly519=) c.1308A>G (p.Gly436=) | |
| 3 | g.133775434A>T | CA435815797 | TF | c.1689A>T (p.Gly563=) c.420A>T n.2683A>T c.1557A>T (p.Gly519=) c.1308A>T (p.Gly436=) | |
| 3 | g.133775439dup | CA2667772096 | TF | c.1694dup (p.Asn565LysfsTer3) c.425dup n.2688dup c.1562dup (p.Asn521LysfsTer3) c.1313dup (p.Asn438LysfsTer3) | gnomAD v4 |
| 3 | g.133775438_133775439dup | CA2758476178 | TF | c.1693_1694dup (p.Asn565LysfsTer10) c.424_425dup n.2687_2688dup c.1561_1562dup (p.Asn521LysfsTer10) c.1312_1313dup (p.Asn438LysfsTer10) | |
| 3 | g.133775439del | CA2667772097 | TF | c.1694del (p.Asn565ThrfsTer9) c.425del n.2688del c.1562del (p.Asn521ThrfsTer9) c.1313del (p.Asn438ThrfsTer9) | gnomAD v4 |
| 3 | g.133775435A= | CA1403130728 | TF | c.1690A= (p.Lys564=) c.421A= n.2684A= c.1558A= (p.Lys520=) c.1309A= (p.Lys437=) | |
| 3 | g.133775435A>C | CA354610050 | TF | c.1690A>C (p.Lys564Gln) c.421A>C n.2684A>C c.1558A>C (p.Lys520Gln) c.1309A>C (p.Lys437Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775435A>G | CA354610051 | TF | c.1690A>G (p.Lys564Glu) c.421A>G n.2684A>G c.1558A>G (p.Lys520Glu) c.1309A>G (p.Lys437Glu) | |
| 3 | g.133775435A>T | CA354610053 | TF | c.1690A>T (p.Lys564Ter) c.421A>T n.2684A>T c.1558A>T (p.Lys520Ter) c.1309A>T (p.Lys437Ter) | |
| 3 | g.133775436A>C | CA354610055 | TF | c.1691A>C (p.Lys564Thr) c.422A>C n.2685A>C c.1559A>C (p.Lys520Thr) c.1310A>C (p.Lys437Thr) | |
| 3 | g.133775436A>G | CA354610057 | TF | c.1691A>G (p.Lys564Arg) c.422A>G n.2685A>G c.1559A>G (p.Lys520Arg) c.1310A>G (p.Lys437Arg) | |
| 3 | g.133775436A>T | CA354610059 | TF | c.1691A>T (p.Lys564Ile) c.422A>T n.2685A>T c.1559A>T (p.Lys520Ile) c.1310A>T (p.Lys437Ile) | |
| 3 | g.133775437A>C | CA354610061 | TF | c.1692A>C (p.Lys564Asn) c.423A>C n.2686A>C c.1560A>C (p.Lys520Asn) c.1311A>C (p.Lys437Asn) | |
| 3 | g.133775437A>G | CA435815798 | TF | c.1692A>G (p.Lys564=) c.423A>G n.2686A>G c.1560A>G (p.Lys520=) c.1311A>G (p.Lys437=) | |
| 3 | g.133775437A>T | CA354610062 | TF | c.1692A>T (p.Lys564Asn) c.423A>T n.2686A>T c.1560A>T (p.Lys520Asn) c.1311A>T (p.Lys437Asn) | |
| 3 | g.133775438A>C | CA354610068 | TF | c.1693A>C (p.Asn565His) c.424A>C n.2687A>C c.1561A>C (p.Asn521His) c.1312A>C (p.Asn438His) | |
| 3 | g.133775438A>G | CA354610066 | TF | c.1693A>G (p.Asn565Asp) c.424A>G n.2687A>G c.1561A>G (p.Asn521Asp) c.1312A>G (p.Asn438Asp) | |
| 3 | g.133775438A>T | CA354610065 | TF | c.1693A>T (p.Asn565Tyr) c.424A>T n.2687A>T c.1561A>T (p.Asn521Tyr) c.1312A>T (p.Asn438Tyr) | |
| 3 | g.133775439A= | CA1403130730 | TF | c.1694A= (p.Asn565=) c.425A= n.2688A= c.1562A= (p.Asn521=) c.1313A= (p.Asn438=) | |
| 3 | g.133775439A>C | CA354610070 | TF | c.1694A>C (p.Asn565Thr) c.425A>C n.2688A>C c.1562A>C (p.Asn521Thr) c.1313A>C (p.Asn438Thr) | |
| 3 | g.133775439A>G | CA354610072 | TF | c.1694A>G (p.Asn565Ser) c.425A>G n.2688A>G c.1562A>G (p.Asn521Ser) c.1313A>G (p.Asn438Ser) | |
| 3 | g.133775439A>T | CA354610074 | TF | c.1694A>T (p.Asn565Ile) c.425A>T n.2688A>T c.1562A>T (p.Asn521Ile) c.1313A>T (p.Asn438Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775440C>A | CA354610076 | TF | c.1695C>A (p.Asn565Lys) c.426C>A n.2689C>A c.1563C>A (p.Asn521Lys) c.1314C>A (p.Asn438Lys) | dbSNP gnomAD v4 |
| 3 | g.133775440C= | CA1403130732 | TF | c.1695C= (p.Asn565=) c.426C= n.2689C= c.1563C= (p.Asn521=) c.1314C= (p.Asn438=) | |
| 3 | g.133775440C>G | CA354610081 | TF | c.1695C>G (p.Asn565Lys) c.426C>G n.2689C>G c.1563C>G (p.Asn521Lys) c.1314C>G (p.Asn438Lys) | |
| 3 | g.133775440C>T | CA435815799 | TF | c.1695C>T (p.Asn565=) c.426C>T n.2689C>T c.1563C>T (p.Asn521=) c.1314C>T (p.Asn438=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775441C>A | CA354610088 | TF | c.1696C>A (p.Pro566Thr) c.427C>A n.2690C>A c.1564C>A (p.Pro522Thr) c.1315C>A (p.Pro439Thr) | |
| 3 | g.133775441C= | CA1403130734 | TF | c.1696C= (p.Pro566=) c.427C= n.2690C= c.1564C= (p.Pro522=) c.1315C= (p.Pro439=) | |
| 3 | g.133775441C>G | CA354610086 | TF | c.1696C>G (p.Pro566Ala) c.427C>G n.2690C>G c.1564C>G (p.Pro522Ala) c.1315C>G (p.Pro439Ala) | |
| 3 | g.133775441C>T | CA354610085 | TF | c.1696C>T (p.Pro566Ser) c.427C>T n.2690C>T c.1564C>T (p.Pro522Ser) c.1315C>T (p.Pro439Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C>A | CA354610090 | TF | c.1697C>A (p.Pro566His) c.428C>A n.2691C>A c.1565C>A (p.Pro522His) c.1316C>A (p.Pro439His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C= | CA1403130737 | TF | c.1697C= (p.Pro566=) c.428C= n.2691C= c.1565C= (p.Pro522=) c.1316C= (p.Pro439=) | |
| 3 | g.133775442C>G | CA354610092 | TF | c.1697C>G (p.Pro566Arg) c.428C>G n.2691C>G c.1565C>G (p.Pro522Arg) c.1316C>G (p.Pro439Arg) | dbSNP |
| 3 | g.133775442C>T | CA354610094 | TF | c.1697C>T (p.Pro566Leu) c.428C>T n.2691C>T c.1565C>T (p.Pro522Leu) c.1316C>T (p.Pro439Leu) | |
| 3 | g.133775443T>A | CA435815800 | TF | c.1698T>A (p.Pro566=) c.429T>A n.2692T>A c.1566T>A (p.Pro522=) c.1317T>A (p.Pro439=) | |
| 3 | g.133775443T>C | CA435815801 | TF | c.1698T>C (p.Pro566=) c.429T>C n.2692T>C c.1566T>C (p.Pro522=) c.1317T>C (p.Pro439=) | gnomAD v4 |
| 3 | g.133775443T>G | CA435815802 | TF | c.1698T>G (p.Pro566=) c.429T>G n.2692T>G c.1566T>G (p.Pro522=) c.1317T>G (p.Pro439=) | ClinVar |
| 3 | g.133775444G>A | CA83692722 | TF | c.1699G>A (p.Asp567Asn) c.430G>A n.2693G>A c.1567G>A (p.Asp523Asn) c.1318G>A (p.Asp440Asn) | dbSNP |
| 3 | g.133775444G>C | CA354610097 | TF | c.1699G>C (p.Asp567His) c.430G>C n.2693G>C c.1567G>C (p.Asp523His) c.1318G>C (p.Asp440His) | |
| 3 | g.133775444G= | CA1403130741 | TF | c.1699G= (p.Asp567=) c.430G= n.2693G= c.1567G= (p.Asp523=) c.1318G= (p.Asp440=) | |
| 3 | g.133775444G>T | CA354610099 | TF | c.1699G>T (p.Asp567Tyr) c.430G>T n.2693G>T c.1567G>T (p.Asp523Tyr) c.1318G>T (p.Asp440Tyr) | |
| 3 | g.133775445A>C | CA354610105 | TF | c.1700A>C (p.Asp567Ala) c.431A>C n.2694A>C c.1568A>C (p.Asp523Ala) c.1319A>C (p.Asp440Ala) | |
| 3 | g.133775445A>G | CA354610102 | TF | c.1700A>G (p.Asp567Gly) c.431A>G n.2694A>G c.1568A>G (p.Asp523Gly) c.1319A>G (p.Asp440Gly) | COSMIC |
| 3 | g.133775445A>T | CA354610103 | TF | c.1700A>T (p.Asp567Val) c.431A>T n.2694A>T c.1568A>T (p.Asp523Val) c.1319A>T (p.Asp440Val) | |
| 3 | g.133775446T>A | CA354610107 | TF | c.1701T>A (p.Asp567Glu) c.432T>A n.2695T>A c.1569T>A (p.Asp523Glu) c.1320T>A (p.Asp440Glu) | |
| 3 | g.133775446T>C | CA435815803 | TF | c.1701T>C (p.Asp567=) c.432T>C n.2695T>C c.1569T>C (p.Asp523=) c.1320T>C (p.Asp440=) | dbSNP |
| 3 | g.133775446T>G | CA354610109 | TF | c.1701T>G (p.Asp567Glu) c.432T>G n.2695T>G c.1569T>G (p.Asp523Glu) c.1320T>G (p.Asp440Glu) | |
| 3 | g.133775446T= | CA1403130745 | TF | c.1701T= (p.Asp567=) c.432T= n.2695T= c.1569T= (p.Asp523=) c.1320T= (p.Asp440=) | |
| 3 | g.133775447C>A | CA354610111 | TF | c.1702C>A (p.Pro568Thr) c.433C>A n.2696C>A c.1570C>A (p.Pro524Thr) c.1321C>A (p.Pro441Thr) | dbSNP gnomAD v4 |
| 3 | g.133775447C= | CA1403130750 | TF | c.1702C= (p.Pro568=) c.433C= n.2696C= c.1570C= (p.Pro524=) c.1321C= (p.Pro441=) | |
| 3 | g.133775447C>G | CA354610113 | TF | c.1702C>G (p.Pro568Ala) c.433C>G n.2696C>G c.1570C>G (p.Pro524Ala) c.1321C>G (p.Pro441Ala) | gnomAD v4 |
| 3 | g.133775447C>T | CA354610114 | TF | c.1702C>T (p.Pro568Ser) c.433C>T n.2696C>T c.1570C>T (p.Pro524Ser) c.1321C>T (p.Pro441Ser) | |
| 3 | g.133775448C>A | CA354610117 | TF | c.1703C>A (p.Pro568Gln) c.434C>A n.2697C>A c.1571C>A (p.Pro524Gln) c.1322C>A (p.Pro441Gln) | |
| 3 | g.133775448C>G | CA354610118 | TF | c.1703C>G (p.Pro568Arg) c.434C>G n.2697C>G c.1571C>G (p.Pro524Arg) c.1322C>G (p.Pro441Arg) | |
| 3 | g.133775448C>T | CA354610120 | TF | c.1703C>T (p.Pro568Leu) c.434C>T n.2697C>T c.1571C>T (p.Pro524Leu) c.1322C>T (p.Pro441Leu) | COSMIC |
| 3 | g.133775449A= | CA1403130752 | TF | c.1704A= (p.Pro568=) c.435A= n.2698A= c.1572A= (p.Pro524=) c.1323A= (p.Pro441=) | |
| 3 | g.133775449A>C | CA435815804 | TF | c.1704A>C (p.Pro568=) c.435A>C n.2698A>C c.1572A>C (p.Pro524=) c.1323A>C (p.Pro441=) | |
| 3 | g.133775449A>G | CA2625400 | TF | c.1704A>G (p.Pro568=) c.435A>G n.2698A>G c.1572A>G (p.Pro524=) c.1323A>G (p.Pro441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775449A>T | CA435815805 | TF | c.1704A>T (p.Pro568=) c.435A>T n.2698A>T c.1572A>T (p.Pro524=) c.1323A>T (p.Pro441=) | |
| 3 | g.133775450T>A | CA354610123 | TF | c.1705T>A (p.Trp569Arg) c.436T>A n.2699T>A c.1573T>A (p.Trp525Arg) c.1324T>A (p.Trp442Arg) | |
| 3 | g.133775450T>C | CA83692746 | TF | c.1705T>C (p.Trp569Arg) c.436T>C n.2699T>C c.1573T>C (p.Trp525Arg) c.1324T>C (p.Trp442Arg) | dbSNP gnomAD v4 |
| 3 | g.133775450T>G | CA354610126 | TF | c.1705T>G (p.Trp569Gly) c.436T>G n.2699T>G c.1573T>G (p.Trp525Gly) c.1324T>G (p.Trp442Gly) | |
| 3 | g.133775450T= | CA1403130755 | TF | c.1705T= (p.Trp569=) c.436T= n.2699T= c.1573T= (p.Trp525=) c.1324T= (p.Trp442=) | |
| 3 | g.133775451G>A | CA354610127 | TF | c.1706G>A (p.Trp569Ter) c.437G>A n.2700G>A c.1574G>A (p.Trp525Ter) c.1325G>A (p.Trp442Ter) | gnomAD v4 |
| 3 | g.133775451G>C | CA354610130 | TF | c.1706G>C (p.Trp569Ser) c.437G>C n.2700G>C c.1574G>C (p.Trp525Ser) c.1325G>C (p.Trp442Ser) | |
| 3 | g.133775451G>T | CA354610129 | TF | c.1706G>T (p.Trp569Leu) c.437G>T n.2700G>T c.1574G>T (p.Trp525Leu) c.1325G>T (p.Trp442Leu) | |
| 3 | g.133775452G>A | CA354610133 | TF | c.1707G>A (p.Trp569Ter) c.438G>A n.2701G>A c.1575G>A (p.Trp525Ter) c.1326G>A (p.Trp442Ter) | gnomAD v4 |
| 3 | g.133775452G>C | CA354610136 | TF | c.1707G>C (p.Trp569Cys) c.438G>C n.2701G>C c.1575G>C (p.Trp525Cys) c.1326G>C (p.Trp442Cys) | |
| 3 | g.133775452G= | CA1403130757 | TF | c.1707G= (p.Trp569=) c.438G= n.2701G= c.1575G= (p.Trp525=) c.1326G= (p.Trp442=) | |
| 3 | g.133775452G>T | CA354610134 | TF | c.1707G>T (p.Trp569Cys) c.438G>T n.2701G>T c.1575G>T (p.Trp525Cys) c.1326G>T (p.Trp442Cys) | dbSNP gnomAD v2 |
| 3 | g.133775453G>A | CA354610139 | TF | c.1708G>A (p.Ala570Thr) c.439G>A n.2702G>A c.1576G>A (p.Ala526Thr) c.1327G>A (p.Ala443Thr) | gnomAD v4 |
| 3 | g.133775453G>C | CA354610141 | TF | c.1708G>C (p.Ala570Pro) c.439G>C n.2702G>C c.1576G>C (p.Ala526Pro) c.1327G>C (p.Ala443Pro) | |
| 3 | g.133775453G>T | CA354610142 | TF | c.1708G>T (p.Ala570Ser) c.439G>T n.2702G>T c.1576G>T (p.Ala526Ser) c.1327G>T (p.Ala443Ser) | |
| 3 | g.133775454C>A | CA354610144 | TF | c.1709C>A (p.Ala570Asp) c.440C>A n.2703C>A c.1577C>A (p.Ala526Asp) c.1328C>A (p.Ala443Asp) | |
| 3 | g.133775454C>G | CA354610146 | TF | c.1709C>G (p.Ala570Gly) c.440C>G n.2703C>G c.1577C>G (p.Ala526Gly) c.1328C>G (p.Ala443Gly) | |
| 3 | g.133775454C>T | CA354610148 | TF | c.1709C>T (p.Ala570Val) c.440C>T n.2703C>T c.1577C>T (p.Ala526Val) c.1328C>T (p.Ala443Val) | |
| 3 | g.133775455T>A | CA435815808 | TF | c.1710T>A (p.Ala570=) c.441T>A n.2704T>A c.1578T>A (p.Ala526=) c.1329T>A (p.Ala443=) | |
| 3 | g.133775455T>C | CA435815806 | TF | c.1710T>C (p.Ala570=) c.441T>C n.2704T>C c.1578T>C (p.Ala526=) c.1329T>C (p.Ala443=) | |
| 3 | g.133775455T>G | CA435815807 | TF | c.1710T>G (p.Ala570=) c.441T>G n.2704T>G c.1578T>G (p.Ala526=) c.1329T>G (p.Ala443=) | gnomAD v4 |
| 3 | g.133775456A= | CA1403130760 | TF | c.1711A= (p.Lys571=) c.442A= n.2705A= c.1579A= (p.Lys527=) c.1330A= (p.Lys444=) | |
| 3 | g.133775456A>C | CA354610151 | TF | c.1711A>C (p.Lys571Gln) c.442A>C n.2705A>C c.1579A>C (p.Lys527Gln) c.1330A>C (p.Lys444Gln) | |
| 3 | g.133775456A>G | CA354610153 | TF | c.1711A>G (p.Lys571Glu) c.442A>G n.2705A>G c.1579A>G (p.Lys527Glu) c.1330A>G (p.Lys444Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775456A>T | CA354610155 | TF | c.1711A>T (p.Lys571Ter) c.442A>T n.2705A>T c.1579A>T (p.Lys527Ter) c.1330A>T (p.Lys444Ter) | |
| 3 | g.133775457A>C | CA354610157 | TF | c.1712A>C (p.Lys571Thr) c.443A>C n.2706A>C c.1580A>C (p.Lys527Thr) c.1331A>C (p.Lys444Thr) | gnomAD v4 |
| 3 | g.133775457A>G | CA354610159 | TF | c.1712A>G (p.Lys571Arg) c.443A>G n.2706A>G c.1580A>G (p.Lys527Arg) c.1331A>G (p.Lys444Arg) | |
| 3 | g.133775457A>T | CA354610162 | TF | c.1712A>T (p.Lys571Met) c.443A>T n.2706A>T c.1580A>T (p.Lys527Met) c.1331A>T (p.Lys444Met) | |
| 3 | g.133775458G>A | CA435815809 | TF | c.1713G>A (p.Lys571=) c.444G>A n.2707G>A c.1581G>A (p.Lys527=) c.1332G>A (p.Lys444=) | COSMIC |
| 3 | g.133775458G>C | CA354610164 | TF | c.1713G>C (p.Lys571Asn) c.444G>C n.2707G>C c.1581G>C (p.Lys527Asn) c.1332G>C (p.Lys444Asn) | |
| 3 | g.133775458G>T | CA354610166 | TF | c.1713G>T (p.Lys571Asn) c.444G>T n.2707G>T c.1581G>T (p.Lys527Asn) c.1332G>T (p.Lys444Asn) | |
| 3 | g.133775459A>C | CA354610168 | TF | c.1714A>C (p.Asn572His) c.445A>C n.2708A>C c.1582A>C (p.Asn528His) c.1333A>C (p.Asn445His) | |
| 3 | g.133775459A>G | CA354610170 | TF | c.1714A>G (p.Asn572Asp) c.445A>G n.2708A>G c.1582A>G (p.Asn528Asp) c.1333A>G (p.Asn445Asp) | |
| 3 | g.133775459A>T | CA354610172 | TF | c.1714A>T (p.Asn572Tyr) c.445A>T n.2708A>T c.1582A>T (p.Asn528Tyr) c.1333A>T (p.Asn445Tyr) | |
| 3 | g.133775460A>C | CA354610174 | TF | c.1715A>C (p.Asn572Thr) c.446A>C n.2709A>C c.1583A>C (p.Asn528Thr) c.1334A>C (p.Asn445Thr) | |
| 3 | g.133775460A>G | CA354610176 | TF | c.1715A>G (p.Asn572Ser) c.446A>G n.2709A>G c.1583A>G (p.Asn528Ser) c.1334A>G (p.Asn445Ser) | gnomAD v4 |
| 3 | g.133775460A>T | CA354610178 | TF | c.1715A>T (p.Asn572Ile) c.446A>T n.2709A>T c.1583A>T (p.Asn528Ile) c.1334A>T (p.Asn445Ile) | |
| 3 | g.133775461T>A | CA354610181 | TF | c.1716T>A (p.Asn572Lys) c.447T>A n.2710T>A c.1584T>A (p.Asn528Lys) c.1335T>A (p.Asn445Lys) | |
| 3 | g.133775461T>C | CA435815810 | TF | c.1716T>C (p.Asn572=) c.447T>C n.2710T>C c.1584T>C (p.Asn528=) c.1335T>C (p.Asn445=) | |
| 3 | g.133775461T>G | CA354610183 | TF | c.1716T>G (p.Asn572Lys) c.447T>G n.2710T>G c.1584T>G (p.Asn528Lys) c.1335T>G (p.Asn445Lys) | gnomAD v4 |
| 3 | g.133775462C>A | CA354610185 | TF | c.1717C>A (p.Leu573Met) c.448C>A n.2711C>A c.1585C>A (p.Leu529Met) c.1336C>A (p.Leu446Met) | COSMIC |
| 3 | g.133775462C= | CA1403130764 | TF | c.1717C= (p.Leu573=) c.448C= n.2711C= c.1585C= (p.Leu529=) c.1336C= (p.Leu446=) | |
| 3 | g.133775462C>G | CA354610187 | TF | c.1717C>G (p.Leu573Val) c.448C>G n.2711C>G c.1585C>G (p.Leu529Val) c.1336C>G (p.Leu446Val) | dbSNP |
| 3 | g.133775462C>T | CA435815811 | TF | c.1717C>T (p.Leu573=) c.448C>T n.2711C>T c.1585C>T (p.Leu529=) c.1336C>T (p.Leu446=) | COSMIC |
| 3 | g.133775463T>A | CA354610192 | TF | c.1718T>A (p.Leu573Gln) c.449T>A n.2712T>A c.1586T>A (p.Leu529Gln) c.1337T>A (p.Leu446Gln) | |
| 3 | g.133775463T>C | CA354610194 | TF | c.1718T>C (p.Leu573Pro) c.449T>C n.2712T>C c.1586T>C (p.Leu529Pro) c.1337T>C (p.Leu446Pro) | |
| 3 | g.133775463T>G | CA2625401 | TF | c.1718T>G (p.Leu573Arg) c.449T>G n.2712T>G c.1586T>G (p.Leu529Arg) c.1337T>G (p.Leu446Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775463T= | CA1403130766 | TF | c.1718T= (p.Leu573=) c.449T= n.2712T= c.1586T= (p.Leu529=) c.1337T= (p.Leu446=) | |
| 3 | g.133775464G>A | CA435815812 | TF | c.1719G>A (p.Leu573=) c.450G>A n.2713G>A c.1587G>A (p.Leu529=) c.1338G>A (p.Leu446=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.133775464G>C | CA435815813 | TF | c.1719G>C (p.Leu573=) c.450G>C n.2713G>C c.1587G>C (p.Leu529=) c.1338G>C (p.Leu446=) | COSMIC |
| 3 | g.133775464G= | CA1403130767 | TF | c.1719G= (p.Leu573=) c.450G= n.2713G= c.1587G= (p.Leu529=) c.1338G= (p.Leu446=) | |
| 3 | g.133775464G>T | CA435815814 | TF | c.1719G>T (p.Leu573=) c.450G>T n.2713G>T c.1587G>T (p.Leu529=) c.1338G>T (p.Leu446=) | |
| 3 | g.133775465A>C | CA354610197 | TF | c.1720A>C (p.Asn574His) c.451A>C n.2714A>C c.1588A>C (p.Asn530His) c.1339A>C (p.Asn447His) | |
| 3 | g.133775465A>G | CA354610198 | TF | c.1720A>G (p.Asn574Asp) c.451A>G n.2714A>G c.1588A>G (p.Asn530Asp) c.1339A>G (p.Asn447Asp) | |
| 3 | g.133775465A>T | CA354610200 | TF | c.1720A>T (p.Asn574Tyr) c.451A>T n.2714A>T c.1588A>T (p.Asn530Tyr) c.1339A>T (p.Asn447Tyr) | |
| 3 | g.133775466A>C | CA354610202 | TF | c.1721A>C (p.Asn574Thr) c.452A>C n.2715A>C c.1589A>C (p.Asn530Thr) c.1340A>C (p.Asn447Thr) | |
| 3 | g.133775466A>G | CA354610203 | TF | c.1721A>G (p.Asn574Ser) c.452A>G n.2715A>G c.1589A>G (p.Asn530Ser) c.1340A>G (p.Asn447Ser) | |
| 3 | g.133775466A>T | CA354610204 | TF | c.1721A>T (p.Asn574Ile) c.452A>T n.2715A>T c.1589A>T (p.Asn530Ile) c.1340A>T (p.Asn447Ile) | |
| 3 | g.133775467T>A | CA354610207 | TF | c.1722T>A (p.Asn574Lys) c.453T>A n.2716T>A c.1590T>A (p.Asn530Lys) c.1341T>A (p.Asn447Lys) | |
| 3 | g.133775467T>C | CA435815815 | TF | c.1722T>C (p.Asn574=) c.453T>C n.2716T>C c.1590T>C (p.Asn530=) c.1341T>C (p.Asn447=) | gnomAD v4 |
| 3 | g.133775467T>G | CA354610208 | TF | c.1722T>G (p.Asn574Lys) c.453T>G n.2716T>G c.1590T>G (p.Asn530Lys) c.1341T>G (p.Asn447Lys) | |
| 3 | g.133775468G>A | CA354610210 | TF | c.1723G>A (p.Glu575Lys) c.454G>A n.2717G>A c.1591G>A (p.Glu531Lys) c.1342G>A (p.Glu448Lys) | gnomAD v4 |
| 3 | g.133775468G>C | CA354610213 | TF | c.1723G>C (p.Glu575Gln) c.454G>C n.2717G>C c.1591G>C (p.Glu531Gln) c.1342G>C (p.Glu448Gln) | |
| 3 | g.133775468G>T | CA354610215 | TF | c.1723G>T (p.Glu575Ter) c.454G>T n.2717G>T c.1591G>T (p.Glu531Ter) c.1342G>T (p.Glu448Ter) | gnomAD v4 |
| 3 | g.133775469A= | CA1403130769 | TF | c.1724A= (p.Glu575=) c.455A= n.2718A= c.1592A= (p.Glu531=) c.1343A= (p.Glu448=) | |
| 3 | g.133775469A>C | CA354610217 | TF | c.1724A>C (p.Glu575Ala) c.455A>C n.2718A>C c.1592A>C (p.Glu531Ala) c.1343A>C (p.Glu448Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775469A>G | CA354610219 | TF | c.1724A>G (p.Glu575Gly) c.455A>G n.2718A>G c.1592A>G (p.Glu531Gly) c.1343A>G (p.Glu448Gly) | |
| 3 | g.133775469A>T | CA354610221 | TF | c.1724A>T (p.Glu575Val) c.455A>T n.2718A>T c.1592A>T (p.Glu531Val) c.1343A>T (p.Glu448Val) | |
| 3 | g.133775470A>C | CA354610223 | TF | c.1725A>C (p.Glu575Asp) c.456A>C n.2719A>C c.1593A>C (p.Glu531Asp) c.1344A>C (p.Glu448Asp) | |
| 3 | g.133775470A>G | CA435815816 | TF | c.1725A>G (p.Glu575=) c.456A>G n.2719A>G c.1593A>G (p.Glu531=) c.1344A>G (p.Glu448=) | |
| 3 | g.133775470A>T | CA354610225 | TF | c.1725A>T (p.Glu575Asp) c.456A>T n.2719A>T c.1593A>T (p.Glu531Asp) c.1344A>T (p.Glu448Asp) | |
| 3 | g.133775471A>C | CA354610228 | TF | c.1726A>C (p.Lys576Gln) c.457A>C n.2720A>C c.1594A>C (p.Lys532Gln) c.1345A>C (p.Lys449Gln) | |
| 3 | g.133775471A>G | CA354610229 | TF | c.1726A>G (p.Lys576Glu) c.457A>G n.2720A>G c.1594A>G (p.Lys532Glu) c.1345A>G (p.Lys449Glu) | |
| 3 | g.133775471A>T | CA354610232 | TF | c.1726A>T (p.Lys576Ter) c.457A>T n.2720A>T c.1594A>T (p.Lys532Ter) c.1345A>T (p.Lys449Ter) | |
| 3 | g.133775472A>C | CA354610234 | TF | c.1727A>C (p.Lys576Thr) c.458A>C n.2721A>C c.1595A>C (p.Lys532Thr) c.1346A>C (p.Lys449Thr) | |
| 3 | g.133775472A>G | CA354610235 | TF | c.1727A>G (p.Lys576Arg) c.458A>G n.2721A>G c.1595A>G (p.Lys532Arg) c.1346A>G (p.Lys449Arg) | |
| 3 | g.133775472A>T | CA354610237 | TF | c.1727A>T (p.Lys576Ile) c.458A>T n.2721A>T c.1595A>T (p.Lys532Ile) c.1346A>T (p.Lys449Ile) | |
| 3 | g.133775473A= | CA1403130772 | TF | c.1728A= (p.Lys576=) c.459A= n.2722A= c.1596A= (p.Lys532=) c.1347A= (p.Lys449=) | |
| 3 | g.133775473A>C | CA354610239 | TF | c.1728A>C (p.Lys576Asn) c.459A>C n.2722A>C c.1596A>C (p.Lys532Asn) c.1347A>C (p.Lys449Asn) | |
| 3 | g.133775473A>G | CA2625402 | TF | c.1728A>G (p.Lys576=) c.459A>G n.2722A>G c.1596A>G (p.Lys532=) c.1347A>G (p.Lys449=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775473A>T | CA83692773 | TF | c.1728A>T (p.Lys576Asn) c.459A>T n.2722A>T c.1596A>T (p.Lys532Asn) c.1347A>T (p.Lys449Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775474G>A | CA354610243 | TF | c.1729G>A (p.Asp577Asn) c.460G>A n.2723G>A c.1597G>A (p.Asp533Asn) c.1348G>A (p.Asp450Asn) | COSMIC |
| 3 | g.133775474G>C | CA354610245 | TF | c.1729G>C (p.Asp577His) c.460G>C n.2723G>C c.1597G>C (p.Asp533His) c.1348G>C (p.Asp450His) | dbSNP |
| 3 | g.133775474G>T | CA354610247 | TF | c.1729G>T (p.Asp577Tyr) c.460G>T n.2723G>T c.1597G>T (p.Asp533Tyr) c.1348G>T (p.Asp450Tyr) | |
| 3 | g.133775475A>C | CA354610251 | TF | c.1730A>C (p.Asp577Ala) c.461A>C n.2724A>C c.1598A>C (p.Asp533Ala) c.1349A>C (p.Asp450Ala) | gnomAD v4 |
| 3 | g.133775475A>G | CA354610249 | TF | c.1730A>G (p.Asp577Gly) c.461A>G n.2724A>G c.1598A>G (p.Asp533Gly) c.1349A>G (p.Asp450Gly) | |
| 3 | g.133775475A>T | CA354610248 | TF | c.1730A>T (p.Asp577Val) c.461A>T n.2724A>T c.1598A>T (p.Asp533Val) c.1349A>T (p.Asp450Val) | |
| 3 | g.133775476C>A | CA354610252 | TF | c.1731C>A (p.Asp577Glu) c.462C>A n.2725C>A c.1599C>A (p.Asp533Glu) c.1350C>A (p.Asp450Glu) | |
| 3 | g.133775476C>G | CA354610253 | TF | c.1731C>G (p.Asp577Glu) c.462C>G n.2725C>G c.1599C>G (p.Asp533Glu) c.1350C>G (p.Asp450Glu) | |
| 3 | g.133775476C>T | CA435815817 | TF | c.1731C>T (p.Asp577=) c.462C>T n.2725C>T c.1599C>T (p.Asp533=) c.1350C>T (p.Asp450=) | gnomAD v4 |
| 3 | g.133775477T>A | CA354610255 | TF | c.1732T>A (p.Tyr578Asn) c.463T>A n.2726T>A c.1600T>A (p.Tyr534Asn) c.1351T>A (p.Tyr451Asn) | gnomAD v4 |
| 3 | g.133775477T>C | CA354610259 | TF | c.1732T>C (p.Tyr578His) c.463T>C n.2726T>C c.1600T>C (p.Tyr534His) c.1351T>C (p.Tyr451His) | |
| 3 | g.133775477T>G | CA354610257 | TF | c.1732T>G (p.Tyr578Asp) c.463T>G n.2726T>G c.1600T>G (p.Tyr534Asp) c.1351T>G (p.Tyr451Asp) | |
| 3 | g.133775478_133775479del | CA645516349 | TF | c.1733_1734del (p.Tyr578Ter) c.464_465del n.2727_2728del c.1601_1602del (p.Tyr534Ter) c.1352_1353del (p.Tyr451Ter) | COSMIC COSMIC |
| 3 | g.133775478A>C | CA354610262 | TF | c.1733A>C (p.Tyr578Ser) c.464A>C n.2727A>C c.1601A>C (p.Tyr534Ser) c.1352A>C (p.Tyr451Ser) | |
| 3 | g.133775478A>G | CA354610264 | TF | c.1733A>G (p.Tyr578Cys) c.464A>G n.2727A>G c.1601A>G (p.Tyr534Cys) c.1352A>G (p.Tyr451Cys) | gnomAD v4 |
| 3 | g.133775478A>T | CA354610266 | TF | c.1733A>T (p.Tyr578Phe) c.464A>T n.2727A>T c.1601A>T (p.Tyr534Phe) c.1352A>T (p.Tyr451Phe) | |
| 3 | g.133775479T>A | CA354610268 | TF | c.1734T>A (p.Tyr578Ter) c.465T>A n.2728T>A c.1602T>A (p.Tyr534Ter) c.1353T>A (p.Tyr451Ter) | |
| 3 | g.133775479T>C | CA2625403 | TF | c.1734T>C (p.Tyr578=) c.465T>C n.2728T>C c.1602T>C (p.Tyr534=) c.1353T>C (p.Tyr451=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775479T>G | CA354610271 | TF | c.1734T>G (p.Tyr578Ter) c.465T>G n.2728T>G c.1602T>G (p.Tyr534Ter) c.1353T>G (p.Tyr451Ter) | gnomAD v4 |
| 3 | g.133775479T= | CA1403130776 | TF | c.1734T= (p.Tyr578=) c.465T= n.2728T= c.1602T= (p.Tyr534=) c.1353T= (p.Tyr451=) | |
| 3 | g.133775480G>A | CA354610273 | TF | c.1735G>A (p.Glu579Lys) c.466G>A n.2729G>A c.1603G>A (p.Glu535Lys) c.1354G>A (p.Glu452Lys) | |
| 3 | g.133775480G>C | CA354610276 | TF | c.1735G>C (p.Glu579Gln) c.466G>C n.2729G>C c.1603G>C (p.Glu535Gln) c.1354G>C (p.Glu452Gln) | |
| 3 | g.133775480G>T | CA354610278 | TF | c.1735G>T (p.Glu579Ter) c.466G>T n.2729G>T c.1603G>T (p.Glu535Ter) c.1354G>T (p.Glu452Ter) | |
| 3 | g.133775481A= | CA1403130779 | TF | c.1736A= (p.Glu579=) c.467A= n.2730A= c.1604A= (p.Glu535=) c.1355A= (p.Glu452=) | |
| 3 | g.133775481A>C | CA354610280 | TF | c.1736A>C (p.Glu579Ala) c.467A>C n.2730A>C c.1604A>C (p.Glu535Ala) c.1355A>C (p.Glu452Ala) | |
| 3 | g.133775481A>G | CA83692803 | TF | c.1736A>G (p.Glu579Gly) c.467A>G n.2730A>G c.1604A>G (p.Glu535Gly) c.1355A>G (p.Glu452Gly) | dbSNP |
| 3 | g.133775481A>T | CA354610283 | TF | c.1736A>T (p.Glu579Val) c.467A>T n.2730A>T c.1604A>T (p.Glu535Val) c.1355A>T (p.Glu452Val) | |
| 3 | g.133775482G>A | CA435815818 | TF | c.1737G>A (p.Glu579=) c.468G>A n.2731G>A c.1605G>A (p.Glu535=) c.1356G>A (p.Glu452=) | dbSNP |
| 3 | g.133775482G>C | CA354610287 | TF | c.1737G>C (p.Glu579Asp) c.468G>C n.2731G>C c.1605G>C (p.Glu535Asp) c.1356G>C (p.Glu452Asp) | gnomAD v4 |
| 3 | g.133775482G= | CA1403130782 | TF | c.1737G= (p.Glu579=) c.468G= n.2731G= c.1605G= (p.Glu535=) c.1356G= (p.Glu452=) | |
| 3 | g.133775482G>T | CA354610286 | TF | c.1737G>T (p.Glu579Asp) c.468G>T n.2731G>T c.1605G>T (p.Glu535Asp) c.1356G>T (p.Glu452Asp) | |
| 3 | g.133775483T>A | CA354610288 | TF | c.1738T>A (p.Leu580Met) c.469T>A n.2732T>A c.1606T>A (p.Leu536Met) c.1357T>A (p.Leu453Met) | |
| 3 | g.133775483T>C | CA435815819 | TF | c.1738T>C (p.Leu580=) c.469T>C n.2732T>C c.1606T>C (p.Leu536=) c.1357T>C (p.Leu453=) | dbSNP |
| 3 | g.133775483T>G | CA354610290 | TF | c.1738T>G (p.Leu580Val) c.469T>G n.2732T>G c.1606T>G (p.Leu536Val) c.1357T>G (p.Leu453Val) | |
| 3 | g.133775483T= | CA1403122650 | TF | c.1738T= (p.Leu580=) c.469T= n.2732T= c.1606T= (p.Leu536=) c.1357T= (p.Leu453=) | |
| 3 | g.133775484T>A | CA354610293 | TF | c.1739T>A (p.Leu580Ter) c.470T>A n.2733T>A c.1607T>A (p.Leu536Ter) c.1358T>A (p.Leu453Ter) | |
| 3 | g.133775484T>C | CA354610295 | TF | c.1739T>C (p.Leu580Ser) c.470T>C n.2733T>C c.1607T>C (p.Leu536Ser) c.1358T>C (p.Leu453Ser) | dbSNP |
| 3 | g.133775484T>G | CA354610297 | TF | c.1739T>G (p.Leu580Trp) c.470T>G n.2733T>G c.1607T>G (p.Leu536Trp) c.1358T>G (p.Leu453Trp) | |
| 3 | g.133775484T= | CA1403122657 | TF | c.1739T= (p.Leu580=) c.470T= n.2733T= c.1607T= (p.Leu536=) c.1358T= (p.Leu453=) | |
| 3 | g.133775485G>A | CA2625404 | TF | c.1740G>A (p.Leu580=) c.471G>A n.2734G>A c.1608G>A (p.Leu536=) c.1359G>A (p.Leu453=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775485G>C | CA354610301 | TF | c.1740G>C (p.Leu580Phe) c.471G>C n.2734G>C c.1608G>C (p.Leu536Phe) c.1359G>C (p.Leu453Phe) | |
| 3 | g.133775485G= | CA1403122662 | TF | c.1740G= (p.Leu580=) c.471G= n.2734G= c.1608G= (p.Leu536=) c.1359G= (p.Leu453=) | |
| 3 | g.133775485G>T | CA2625405 | TF | c.1740G>T (p.Leu580Phe) c.471G>T n.2734G>T c.1608G>T (p.Leu536Phe) c.1359G>T (p.Leu453Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775486C>A | CA354610303 | TF | c.1741C>A (p.Leu581Met) c.472C>A n.2735C>A c.1609C>A (p.Leu537Met) c.1360C>A (p.Leu454Met) | |
| 3 | g.133775486C= | CA1403122671 | TF | c.1741C= (p.Leu581=) c.472C= n.2735C= c.1609C= (p.Leu537=) c.1360C= (p.Leu454=) | |
| 3 | g.133775486C>G | CA354610304 | TF | c.1741C>G (p.Leu581Val) c.472C>G n.2735C>G c.1609C>G (p.Leu537Val) c.1360C>G (p.Leu454Val) | |
| 3 | g.133775486C>T | CA435815820 | TF | c.1741C>T (p.Leu581=) c.472C>T n.2735C>T c.1609C>T (p.Leu537=) c.1360C>T (p.Leu454=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.133775487T>A | CA354610305 | TF | c.1742T>A (p.Leu581Gln) c.473T>A n.2736T>A c.1610T>A (p.Leu537Gln) c.1361T>A (p.Leu454Gln) | |
| 3 | g.133775487T>C | CA354610306 | TF | c.1742T>C (p.Leu581Pro) c.473T>C n.2736T>C c.1610T>C (p.Leu537Pro) c.1361T>C (p.Leu454Pro) | |
| 3 | g.133775487T>G | CA354610307 | TF | c.1742T>G (p.Leu581Arg) c.473T>G n.2736T>G c.1610T>G (p.Leu537Arg) c.1361T>G (p.Leu454Arg) | |
| 3 | g.133775488G>A | CA83692821 | TF | c.1743G>A (p.Leu581=) c.474G>A n.2737G>A c.1611G>A (p.Leu537=) c.1362G>A (p.Leu454=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775488G>C | CA435815821 | TF | c.1743G>C (p.Leu581=) c.474G>C n.2737G>C c.1611G>C (p.Leu537=) c.1362G>C (p.Leu454=) | |
| 3 | g.133775488G= | CA1403122673 | TF | c.1743G= (p.Leu581=) c.474G= n.2737G= c.1611G= (p.Leu537=) c.1362G= (p.Leu454=) | |
| 3 | g.133775488G>T | CA435815822 | TF | c.1743G>T (p.Leu581=) c.474G>T n.2737G>T c.1611G>T (p.Leu537=) c.1362G>T (p.Leu454=) | |
| 3 | g.133775489T>A | CA354610310 | TF | c.1744T>A (p.Cys582Ser) c.475T>A n.2738T>A c.1612T>A (p.Cys538Ser) c.1363T>A (p.Cys455Ser) | |
| 3 | g.133775489T>C | CA354610308 | TF | c.1744T>C (p.Cys582Arg) c.475T>C n.2738T>C c.1612T>C (p.Cys538Arg) c.1363T>C (p.Cys455Arg) | |
| 3 | g.133775489T>G | CA354610309 | TF | c.1744T>G (p.Cys582Gly) c.475T>G n.2738T>G c.1612T>G (p.Cys538Gly) c.1363T>G (p.Cys455Gly) | |
| 3 | g.133775490G>A | CA354610311 | TF | c.1745G>A (p.Cys582Tyr) c.476G>A n.2739G>A c.1613G>A (p.Cys538Tyr) c.1364G>A (p.Cys455Tyr) | |
| 3 | g.133775490G>C | CA354610312 | TF | c.1745G>C (p.Cys582Ser) c.476G>C n.2739G>C c.1613G>C (p.Cys538Ser) c.1364G>C (p.Cys455Ser) | |
| 3 | g.133775490G>T | CA354610313 | TF | c.1745G>T (p.Cys582Phe) c.476G>T n.2739G>T c.1613G>T (p.Cys538Phe) c.1364G>T (p.Cys455Phe) | |
| 3 | g.133775491C>A | CA354610314 | TF | c.1746C>A (p.Cys582Ter) c.477C>A n.2740C>A c.1614C>A (p.Cys538Ter) c.1365C>A (p.Cys455Ter) | |
| 3 | g.133775491C>G | CA354610315 | TF | c.1746C>G (p.Cys582Trp) c.477C>G n.2740C>G c.1614C>G (p.Cys538Trp) c.1365C>G (p.Cys455Trp) | |
| 3 | g.133775491C>T | CA435815823 | TF | c.1746C>T (p.Cys582=) c.477C>T n.2740C>T c.1614C>T (p.Cys538=) c.1365C>T (p.Cys455=) | |
| 3 | g.133775492C>A | CA354610316 | TF | c.1747C>A (p.Leu583Ile) c.478C>A n.2741C>A c.1615C>A (p.Leu539Ile) c.1366C>A (p.Leu456Ile) | |
| 3 | g.133775492C= | CA1403122676 | TF | c.1747C= (p.Leu583=) c.478C= n.2741C= c.1615C= (p.Leu539=) c.1366C= (p.Leu456=) | |
| 3 | g.133775492C>G | CA354610317 | TF | c.1747C>G (p.Leu583Val) c.478C>G n.2741C>G c.1615C>G (p.Leu539Val) c.1366C>G (p.Leu456Val) | gnomAD v4 |
| 3 | g.133775492C>T | CA354610318 | TF | c.1747C>T (p.Leu583Phe) c.478C>T n.2741C>T c.1615C>T (p.Leu539Phe) c.1366C>T (p.Leu456Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775493T>A | CA354610319 | TF | c.1748T>A (p.Leu583His) c.479T>A n.2742T>A c.1616T>A (p.Leu539His) c.1367T>A (p.Leu456His) | |
| 3 | g.133775493T>C | CA354610320 | TF | c.1748T>C (p.Leu583Pro) c.479T>C n.2742T>C c.1616T>C (p.Leu539Pro) c.1367T>C (p.Leu456Pro) | |
| 3 | g.133775493T>G | CA354610321 | TF | c.1748T>G (p.Leu583Arg) c.479T>G n.2742T>G c.1616T>G (p.Leu539Arg) c.1367T>G (p.Leu456Arg) | |
| 3 | g.133775494T>A | CA435815824 | TF | c.1749T>A (p.Leu583=) c.480T>A n.2743T>A c.1617T>A (p.Leu539=) c.1368T>A (p.Leu456=) | |
| 3 | g.133775494T>C | CA435815825 | TF | c.1749T>C (p.Leu583=) c.480T>C n.2743T>C c.1617T>C (p.Leu539=) c.1368T>C (p.Leu456=) | |
| 3 | g.133775494T>G | CA435815826 | TF | c.1749T>G (p.Leu583=) c.480T>G n.2743T>G c.1617T>G (p.Leu539=) c.1368T>G (p.Leu456=) | |
| 3 | g.133775495G>A | CA354610324 | TF | c.1750G>A (p.Asp584Asn) c.481G>A n.2744G>A c.1618G>A (p.Asp540Asn) c.1369G>A (p.Asp457Asn) | gnomAD v4 |
| 3 | g.133775495G>C | CA354610322 | TF | c.1750G>C (p.Asp584His) c.481G>C n.2744G>C c.1618G>C (p.Asp540His) c.1369G>C (p.Asp457His) | |
| 3 | g.133775495G>T | CA354610323 | TF | c.1750G>T (p.Asp584Tyr) c.481G>T n.2744G>T c.1618G>T (p.Asp540Tyr) c.1369G>T (p.Asp457Tyr) | |
| 3 | g.133775496A= | CA1403122687 | TF | c.1751A= (p.Asp584=) c.482A= n.2745A= c.1619A= (p.Asp540=) c.1370A= (p.Asp457=) | |
| 3 | g.133775496A>C | CA354610325 | TF | c.1751A>C (p.Asp584Ala) c.482A>C n.2745A>C c.1619A>C (p.Asp540Ala) c.1370A>C (p.Asp457Ala) | |
| 3 | g.133775496A>G | CA2625406 | TF | c.1751A>G (p.Asp584Gly) c.482A>G n.2745A>G c.1619A>G (p.Asp540Gly) c.1370A>G (p.Asp457Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775496A>T | CA354610326 | TF | c.1751A>T (p.Asp584Val) c.482A>T n.2745A>T c.1619A>T (p.Asp540Val) c.1370A>T (p.Asp457Val) | |
| 3 | g.133775497T>A | CA354610327 | TF | c.1752T>A (p.Asp584Glu) c.483T>A n.2746T>A c.1620T>A (p.Asp540Glu) c.1371T>A (p.Asp457Glu) | |
| 3 | g.133775497T>C | CA435815827 | TF | c.1752T>C (p.Asp584=) c.483T>C n.2746T>C c.1620T>C (p.Asp540=) c.1371T>C (p.Asp457=) | |
| 3 | g.133775497T>G | CA354610328 | TF | c.1752T>G (p.Asp584Glu) c.483T>G n.2746T>G c.1620T>G (p.Asp540Glu) c.1371T>G (p.Asp457Glu) | |
| 3 | g.133775498G>A | CA83692832 | TF | c.1753G>A (p.Gly585Ser) c.484G>A n.2747G>A c.1621G>A (p.Gly541Ser) c.1372G>A (p.Gly458Ser) | dbSNP gnomAD v4 |
| 3 | g.133775498G>C | CA354610329 | TF | c.1753G>C (p.Gly585Arg) c.484G>C n.2747G>C c.1621G>C (p.Gly541Arg) c.1372G>C (p.Gly458Arg) | |
| 3 | g.133775498G= | CA1403122691 | TF | c.1753G= (p.Gly585=) c.484G= n.2747G= c.1621G= (p.Gly541=) c.1372G= (p.Gly458=) | |
| 3 | g.133775498G>T | CA354610330 | TF | c.1753G>T (p.Gly585Cys) c.484G>T n.2747G>T c.1621G>T (p.Gly541Cys) c.1372G>T (p.Gly458Cys) | |
| 3 | g.133775499G>A | CA354610331 | TF | c.1754G>A (p.Gly585Asp) c.485G>A n.2748G>A c.1622G>A (p.Gly541Asp) c.1373G>A (p.Gly458Asp) | COSMIC |
| 3 | g.133775499G>C | CA354610332 | TF | c.1754G>C (p.Gly585Ala) c.485G>C n.2748G>C c.1622G>C (p.Gly541Ala) c.1373G>C (p.Gly458Ala) | |
| 3 | g.133775499G>T | CA354610333 | TF | c.1754G>T (p.Gly585Val) c.485G>T n.2748G>T c.1622G>T (p.Gly541Val) c.1373G>T (p.Gly458Val) | |
| 3 | g.133775500T>A | CA435815828 | TF | c.1755T>A (p.Gly585=) c.486T>A n.2749T>A c.1623T>A (p.Gly541=) c.1374T>A (p.Gly458=) | |
| 3 | g.133775500T>C | CA435815829 | TF | c.1755T>C (p.Gly585=) c.486T>C n.2749T>C c.1623T>C (p.Gly541=) c.1374T>C (p.Gly458=) | |
| 3 | g.133775500T>G | CA435815830 | TF | c.1755T>G (p.Gly585=) c.486T>G n.2749T>G c.1623T>G (p.Gly541=) c.1374T>G (p.Gly458=) | |
| 3 | g.133775501A>C | CA354610336 | TF | c.1756A>C (p.Thr586Pro) c.487A>C n.2750A>C c.1624A>C (p.Thr542Pro) c.1375A>C (p.Thr459Pro) | |
| 3 | g.133775501A>G | CA354610335 | TF | c.1756A>G (p.Thr586Ala) c.487A>G n.2750A>G c.1624A>G (p.Thr542Ala) c.1375A>G (p.Thr459Ala) | |
| 3 | g.133775501A>T | CA354610334 | TF | c.1756A>T (p.Thr586Ser) c.487A>T n.2750A>T c.1624A>T (p.Thr542Ser) c.1375A>T (p.Thr459Ser) | COSMIC |
| 3 | g.133775502C>A | CA354610337 | TF | c.1757C>A (p.Thr586Asn) c.488C>A n.2751C>A c.1625C>A (p.Thr542Asn) c.1376C>A (p.Thr459Asn) | |
| 3 | g.133775502C>G | CA354610338 | TF | c.1757C>G (p.Thr586Ser) c.488C>G n.2751C>G c.1625C>G (p.Thr542Ser) c.1376C>G (p.Thr459Ser) | |
| 3 | g.133775502C>T | CA354610339 | TF | c.1757C>T (p.Thr586Ile) c.488C>T n.2751C>T c.1625C>T (p.Thr542Ile) c.1376C>T (p.Thr459Ile) | |
| 3 | g.133775503C>A | CA435815831 | TF | c.1758C>A (p.Thr586=) c.489C>A n.2752C>A c.1626C>A (p.Thr542=) c.1377C>A (p.Thr459=) | |
| 3 | g.133775503C>G | CA435815832 | TF | c.1758C>G (p.Thr586=) c.489C>G n.2752C>G c.1626C>G (p.Thr542=) c.1377C>G (p.Thr459=) | |
| 3 | g.133775503C>T | CA435815833 | TF | c.1758C>T (p.Thr586=) c.489C>T n.2752C>T c.1626C>T (p.Thr542=) c.1377C>T (p.Thr459=) | gnomAD v4 |
| 3 | g.133775504A= | CA1403122698 | TF | c.1759A= (p.Arg587=) c.490A= n.2753A= c.1627A= (p.Arg543=) c.1378A= (p.Arg460=) | |
| 3 | g.133775504A>C | CA435815834 | TF | c.1759A>C (p.Arg587=) c.490A>C n.2753A>C c.1627A>C (p.Arg543=) c.1378A>C (p.Arg460=) | |
| 3 | g.133775504A>G | CA354610340 | TF | c.1759A>G (p.Arg587Gly) c.490A>G n.2753A>G c.1627A>G (p.Arg543Gly) c.1378A>G (p.Arg460Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775504A>T | CA354610341 | TF | c.1759A>T (p.Arg587Trp) c.490A>T n.2753A>T c.1627A>T (p.Arg543Trp) c.1378A>T (p.Arg460Trp) | |
| 3 | g.133775505G>A | CA354610342 | TF | c.1760G>A (p.Arg587Lys) c.491G>A n.2754G>A c.1628G>A (p.Arg543Lys) c.1379G>A (p.Arg460Lys) | |
| 3 | g.133775505G>C | CA354610343 | TF | c.1760G>C (p.Arg587Thr) c.491G>C n.2754G>C c.1628G>C (p.Arg543Thr) c.1379G>C (p.Arg460Thr) | |
| 3 | g.133775505G>T | CA354610344 | TF | c.1760G>T (p.Arg587Met) c.491G>T n.2754G>T c.1628G>T (p.Arg543Met) c.1379G>T (p.Arg460Met) | |
| 3 | g.133775506G>A | CA435815835 | TF | c.1761G>A (p.Arg587=) c.492G>A n.2755G>A c.1629G>A (p.Arg543=) c.1380G>A (p.Arg460=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.133775506G>C | CA354610345 | TF | c.1761G>C (p.Arg587Ser) c.492G>C n.2755G>C c.1629G>C (p.Arg543Ser) c.1380G>C (p.Arg460Ser) | |
| 3 | g.133775506G= | CA1403122702 | TF | c.1761G= (p.Arg587=) c.492G= n.2755G= c.1629G= (p.Arg543=) c.1380G= (p.Arg460=) | |
| 3 | g.133775506G>T | CA354610346 | TF | c.1761G>T (p.Arg587Ser) c.492G>T n.2755G>T c.1629G>T (p.Arg543Ser) c.1380G>T (p.Arg460Ser) | |
| 3 | g.133775507A>C | CA354610347 | TF | c.1762A>C (p.Lys588Gln) c.493A>C n.2756A>C c.1630A>C (p.Lys544Gln) c.1381A>C (p.Lys461Gln) | |
| 3 | g.133775507A>G | CA354610348 | TF | c.1762A>G (p.Lys588Glu) c.493A>G n.2756A>G c.1630A>G (p.Lys544Glu) c.1381A>G (p.Lys461Glu) | |
| 3 | g.133775507A>T | CA354610349 | TF | c.1762A>T (p.Lys588Ter) c.493A>T n.2756A>T c.1630A>T (p.Lys544Ter) c.1381A>T (p.Lys461Ter) | |
| 3 | g.133775508A>C | CA354610352 | TF | c.1763A>C (p.Lys588Thr) c.494A>C n.2757A>C c.1631A>C (p.Lys544Thr) c.1382A>C (p.Lys461Thr) | |
| 3 | g.133775508A>G | CA354610351 | TF | c.1763A>G (p.Lys588Arg) c.494A>G n.2757A>G c.1631A>G (p.Lys544Arg) c.1382A>G (p.Lys461Arg) | |
| 3 | g.133775508A>T | CA354610350 | TF | c.1763A>T (p.Lys588Ile) c.494A>T n.2757A>T c.1631A>T (p.Lys544Ile) c.1382A>T (p.Lys461Ile) | |
| 3 | g.133775509A= | CA1403122710 | TF | c.1764A= (p.Lys588=) c.495A= n.2758A= c.1632A= (p.Lys544=) c.1383A= (p.Lys461=) | |
| 3 | g.133775509A>C | CA354610353 | TF | c.1764A>C (p.Lys588Asn) c.495A>C n.2758A>C c.1632A>C (p.Lys544Asn) c.1383A>C (p.Lys461Asn) | |
| 3 | g.133775509A>G | CA435815836 | TF | c.1764A>G (p.Lys588=) c.495A>G n.2758A>G c.1632A>G (p.Lys544=) c.1383A>G (p.Lys461=) | dbSNP gnomAD v4 |
| 3 | g.133775509A>T | CA354610354 | TF | c.1764A>T (p.Lys588Asn) c.495A>T n.2758A>T c.1632A>T (p.Lys544Asn) c.1383A>T (p.Lys461Asn) | |
| 3 | g.133775510C>A | CA354610355 | TF | c.1765C>A (p.Pro589Thr) c.496C>A n.2759C>A c.1633C>A (p.Pro545Thr) c.1384C>A (p.Pro462Thr) | |
| 3 | g.133775510C= | CA1403122726 | TF | c.1765C= (p.Pro589=) c.496C= n.2759C= c.1633C= (p.Pro545=) c.1384C= (p.Pro462=) | |
| 3 | g.133775510C>G | CA354610356 | TF | c.1765C>G (p.Pro589Ala) c.496C>G n.2759C>G c.1633C>G (p.Pro545Ala) c.1384C>G (p.Pro462Ala) | dbSNP |
| 3 | g.133775510C>T | CA122563 | TF | c.1765C>T (p.Pro589Ser) c.496C>T n.2759C>T c.1633C>T (p.Pro545Ser) c.1384C>T (p.Pro462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775511C>A | CA354610357 | TF | c.1766C>A (p.Pro589His) c.497C>A n.2760C>A c.1634C>A (p.Pro545His) c.1385C>A (p.Pro462His) | COSMIC |
| 3 | g.133775511C= | CA1403122730 | TF | c.1766C= (p.Pro589=) c.497C= n.2760C= c.1634C= (p.Pro545=) c.1385C= (p.Pro462=) | |
| 3 | g.133775511C>G | CA354610358 | TF | c.1766C>G (p.Pro589Arg) c.497C>G n.2760C>G c.1634C>G (p.Pro545Arg) c.1385C>G (p.Pro462Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775511C>T | CA354610359 | TF | c.1766C>T (p.Pro589Leu) c.497C>T n.2760C>T c.1634C>T (p.Pro545Leu) c.1385C>T (p.Pro462Leu) | |
| 3 | g.133775512T>A | CA435815837 | TF | c.1767T>A (p.Pro589=) c.498T>A n.2761T>A c.1635T>A (p.Pro545=) c.1386T>A (p.Pro462=) | |
| 3 | g.133775512T>C | CA435815838 | TF | c.1767T>C (p.Pro589=) c.498T>C n.2761T>C c.1635T>C (p.Pro545=) c.1386T>C (p.Pro462=) | |
| 3 | g.133775512T>G | CA435815839 | TF | c.1767T>G (p.Pro589=) c.498T>G n.2761T>G c.1635T>G (p.Pro545=) c.1386T>G (p.Pro462=) | |
| 3 | g.133775513G>A | CA354610360 | TF | c.1768G>A (p.Val590Met) c.499G>A n.2762G>A c.1636G>A (p.Val546Met) c.1387G>A (p.Val463Met) | |
| 3 | g.133775513G>C | CA354610361 | TF | c.1768G>C (p.Val590Leu) c.499G>C n.2762G>C c.1636G>C (p.Val546Leu) c.1387G>C (p.Val463Leu) | |
| 3 | g.133775513G>T | CA354610362 | TF | c.1768G>T (p.Val590Leu) c.499G>T n.2762G>T c.1636G>T (p.Val546Leu) c.1387G>T (p.Val463Leu) | |
| 3 | g.133775514T>A | CA354610363 | TF | c.1769T>A (p.Val590Glu) c.500T>A n.2763T>A c.1637T>A (p.Val546Glu) c.1388T>A (p.Val463Glu) | |
| 3 | g.133775514T>C | CA354610364 | TF | c.1769T>C (p.Val590Ala) c.500T>C n.2763T>C c.1637T>C (p.Val546Ala) c.1388T>C (p.Val463Ala) | gnomAD v4 |
| 3 | g.133775514T>G | CA354610365 | TF | c.1769T>G (p.Val590Gly) c.500T>G n.2763T>G c.1637T>G (p.Val546Gly) c.1388T>G (p.Val463Gly) | |
| 3 | g.133775515G>A | CA435815840 | TF | c.1770G>A (p.Val590=) c.501G>A n.2764G>A c.1638G>A (p.Val546=) c.1389G>A (p.Val463=) | |
| 3 | g.133775515G>C | CA435815841 | TF | c.1770G>C (p.Val590=) c.501G>C n.2764G>C c.1638G>C (p.Val546=) c.1389G>C (p.Val463=) | |
| 3 | g.133775515G>T | CA435815842 | TF | c.1770G>T (p.Val590=) c.501G>T n.2764G>T c.1638G>T (p.Val546=) c.1389G>T (p.Val463=) | |
| 3 | g.133775516G>A | CA354610367 | TF | c.1771G>A (p.Glu591Lys) c.502G>A n.2765G>A c.1639G>A (p.Glu547Lys) c.1390G>A (p.Glu464Lys) | dbSNP gnomAD v4 |
| 3 | g.133775516G>C | CA354610368 | TF | c.1771G>C (p.Glu591Gln) c.502G>C n.2765G>C c.1639G>C (p.Glu547Gln) c.1390G>C (p.Glu464Gln) | |
| 3 | g.133775516G>T | CA354610366 | TF | c.1771G>T (p.Glu591Ter) c.502G>T n.2765G>T c.1639G>T (p.Glu547Ter) c.1390G>T (p.Glu464Ter) | |
| 3 | g.133775517A>C | CA354610369 | TF | c.1772A>C (p.Glu591Ala) c.503A>C n.2766A>C c.1640A>C (p.Glu547Ala) c.1391A>C (p.Glu464Ala) | |
| 3 | g.133775517A>G | CA354610370 | TF | c.1772A>G (p.Glu591Gly) c.503A>G n.2766A>G c.1640A>G (p.Glu547Gly) c.1391A>G (p.Glu464Gly) | |
| 3 | g.133775517A>T | CA354610371 | TF | c.1772A>T (p.Glu591Val) c.503A>T n.2766A>T c.1640A>T (p.Glu547Val) c.1391A>T (p.Glu464Val) | |
| 3 | g.133775518G>A | CA2625407 | TF | c.1773G>A (p.Glu591=) c.504G>A n.2767G>A c.1641G>A (p.Glu547=) c.1392G>A (p.Glu464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133775518G>C | CA354610372 | TF | c.1773G>C (p.Glu591Asp) c.504G>C n.2767G>C c.1641G>C (p.Glu547Asp) c.1392G>C (p.Glu464Asp) | |
| 3 | g.133775518G= | CA1403122734 | TF | c.1773G= (p.Glu591=) c.504G= n.2767G= c.1641G= (p.Glu547=) c.1392G= (p.Glu464=) | |
| 3 | g.133775518G>T | CA354610373 | TF | c.1773G>T (p.Glu591Asp) c.504G>T n.2767G>T c.1641G>T (p.Glu547Asp) c.1392G>T (p.Glu464Asp) | gnomAD v4 |
| 3 | g.133775519G>A | CA2625408 | TF | c.1774G>A (p.Glu592Lys) c.505G>A n.2768G>A c.1642G>A (p.Glu548Lys) c.1393G>A (p.Glu465Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775519G>C | CA354610374 | TF | c.1774G>C (p.Glu592Gln) c.505G>C n.2768G>C c.1642G>C (p.Glu548Gln) c.1393G>C (p.Glu465Gln) | gnomAD v4 |
| 3 | g.133775519G= | CA1403122740 | TF | c.1774G= (p.Glu592=) c.505G= n.2768G= c.1642G= (p.Glu548=) c.1393G= (p.Glu465=) | |
| 3 | g.133775519G>T | CA354610375 | TF | c.1774G>T (p.Glu592Ter) c.505G>T n.2768G>T c.1642G>T (p.Glu548Ter) c.1393G>T (p.Glu465Ter) | |
| 3 | g.133775520A= | CA1403122747 | TF | c.1775A= (p.Glu592=) c.506A= n.2769A= c.1643A= (p.Glu548=) c.1394A= (p.Glu465=) | |
| 3 | g.133775520A>C | CA354610376 | TF | c.1775A>C (p.Glu592Ala) c.506A>C n.2769A>C c.1643A>C (p.Glu548Ala) c.1394A>C (p.Glu465Ala) | gnomAD v4 |
| 3 | g.133775520A>G | CA354610377 | TF | c.1775A>G (p.Glu592Gly) c.506A>G n.2769A>G c.1643A>G (p.Glu548Gly) c.1394A>G (p.Glu465Gly) | ClinVar |
| 3 | g.133775520A>T | CA354610378 | TF | c.1775A>T (p.Glu592Val) c.506A>T n.2769A>T c.1643A>T (p.Glu548Val) c.1394A>T (p.Glu465Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775521G>A | CA435815843 | TF | c.1776G>A (p.Glu592=) c.507G>A n.2770G>A c.1644G>A (p.Glu548=) c.1395G>A (p.Glu465=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775521G>C | CA354610380 | TF | c.1776G>C (p.Glu592Asp) c.507G>C n.2770G>C c.1644G>C (p.Glu548Asp) c.1395G>C (p.Glu465Asp) | |
| 3 | g.133775521G= | CA1403122753 | TF | c.1776G= (p.Glu592=) c.507G= n.2770G= c.1644G= (p.Glu548=) c.1395G= (p.Glu465=) | |
| 3 | g.133775521G>T | CA354610379 | TF | c.1776G>T (p.Glu592Asp) c.507G>T n.2770G>T c.1644G>T (p.Glu548Asp) c.1395G>T (p.Glu465Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775522T>A | CA354610381 | TF | c.1777T>A (p.Tyr593Asn) c.508T>A n.2771T>A c.1645T>A (p.Tyr549Asn) c.1396T>A (p.Tyr466Asn) | |
| 3 | g.133775522T>C | CA354610382 | TF | c.1777T>C (p.Tyr593His) c.508T>C n.2771T>C c.1645T>C (p.Tyr549His) c.1396T>C (p.Tyr466His) | gnomAD v4 |
| 3 | g.133775522T>G | CA354610383 | TF | c.1777T>G (p.Tyr593Asp) c.508T>G n.2771T>G c.1645T>G (p.Tyr549Asp) c.1396T>G (p.Tyr466Asp) | |
| 3 | g.133775523A>C | CA354610384 | TF | c.1778A>C (p.Tyr593Ser) c.509A>C n.2772A>C c.1646A>C (p.Tyr549Ser) c.1397A>C (p.Tyr466Ser) | |
| 3 | g.133775523A>G | CA354610385 | TF | c.1778A>G (p.Tyr593Cys) c.509A>G n.2772A>G c.1646A>G (p.Tyr549Cys) c.1397A>G (p.Tyr466Cys) | gnomAD v4 |
| 3 | g.133775523A>T | CA354610386 | TF | c.1778A>T (p.Tyr593Phe) c.509A>T n.2772A>T c.1646A>T (p.Tyr549Phe) c.1397A>T (p.Tyr466Phe) | |
| 3 | g.133775524T>A | CA354610387 | TF | c.1779T>A (p.Tyr593Ter) c.510T>A n.2773T>A c.1647T>A (p.Tyr549Ter) c.1398T>A (p.Tyr466Ter) | |
| 3 | g.133775524T>C | CA2625409 | TF | c.1779T>C (p.Tyr593=) c.510T>C n.2773T>C c.1647T>C (p.Tyr549=) c.1398T>C (p.Tyr466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775524T>G | CA354610388 | TF | c.1779T>G (p.Tyr593Ter) c.510T>G n.2773T>G c.1647T>G (p.Tyr549Ter) c.1398T>G (p.Tyr466Ter) | |
| 3 | g.133775524T= | CA1403122758 | TF | c.1779T= (p.Tyr593=) c.510T= n.2773T= c.1647T= (p.Tyr549=) c.1398T= (p.Tyr466=) | |
| 3 | g.133775525G>A | CA354610389 | TF | c.1780G>A (p.Ala594Thr) c.511G>A n.2774G>A c.1648G>A (p.Ala550Thr) c.1399G>A (p.Ala467Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775525G>C | CA354610390 | TF | c.1780G>C (p.Ala594Pro) c.511G>C n.2774G>C c.1648G>C (p.Ala550Pro) c.1399G>C (p.Ala467Pro) | |
| 3 | g.133775525G= | CA1403122760 | TF | c.1780G= (p.Ala594=) c.511G= n.2774G= c.1648G= (p.Ala550=) c.1399G= (p.Ala467=) | |
| 3 | g.133775525G>T | CA354610391 | TF | c.1780G>T (p.Ala594Ser) c.511G>T n.2774G>T c.1648G>T (p.Ala550Ser) c.1399G>T (p.Ala467Ser) | |
| 3 | g.133775526C>A | CA354610392 | TF | c.1781C>A (p.Ala594Glu) c.512C>A n.2775C>A c.1649C>A (p.Ala550Glu) c.1400C>A (p.Ala467Glu) | |
| 3 | g.133775526C= | CA1403122762 | TF | c.1781C= (p.Ala594=) c.512C= n.2775C= c.1649C= (p.Ala550=) c.1400C= (p.Ala467=) | |
| 3 | g.133775526C>G | CA354610394 | TF | c.1781C>G (p.Ala594Gly) c.512C>G n.2775C>G c.1649C>G (p.Ala550Gly) c.1400C>G (p.Ala467Gly) | |
| 3 | g.133775526C>T | CA354610393 | TF | c.1781C>T (p.Ala594Val) c.512C>T n.2775C>T c.1649C>T (p.Ala550Val) c.1400C>T (p.Ala467Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133775527G>A | CA2625411 | TF | c.1782G>A (p.Ala594=) c.513G>A n.2776G>A c.1650G>A (p.Ala550=) c.1401G>A (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.133775527G>C | CA435815844 | TF | c.1782G>C (p.Ala594=) c.513G>C n.2776G>C c.1650G>C (p.Ala550=) c.1401G>C (p.Ala467=) | ClinVar gnomAD v4 |
| 3 | g.133775527G= | CA1403122767 | TF | c.1782G= (p.Ala594=) c.513G= n.2776G= c.1650G= (p.Ala550=) c.1401G= (p.Ala467=) | |
| 3 | g.133775527G>T | CA2625410 | TF | c.1782G>T (p.Ala594=) c.513G>T n.2776G>T c.1650G>T (p.Ala550=) c.1401G>T (p.Ala467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775528A>C | CA354610395 | TF | c.1783A>C (p.Asn595His) c.514A>C n.2777A>C c.1651A>C (p.Asn551His) c.1402A>C (p.Asn468His) | |
| 3 | g.133775528A>G | CA354610397 | TF | c.1783A>G (p.Asn595Asp) c.514A>G n.2777A>G c.1651A>G (p.Asn551Asp) c.1402A>G (p.Asn468Asp) | |
| 3 | g.133775528A>T | CA354610396 | TF | c.1783A>T (p.Asn595Tyr) c.514A>T n.2777A>T c.1651A>T (p.Asn551Tyr) c.1402A>T (p.Asn468Tyr) | |
| 3 | g.133775529A= | CA1403122773 | TF | c.1784A= (p.Asn595=) c.515A= n.2778A= c.1652A= (p.Asn551=) c.1403A= (p.Asn468=) | |
| 3 | g.133775529A>C | CA354610398 | TF | c.1784A>C (p.Asn595Thr) c.515A>C n.2778A>C c.1652A>C (p.Asn551Thr) c.1403A>C (p.Asn468Thr) | dbSNP |
| 3 | g.133775529A>G | CA354610400 | TF | c.1784A>G (p.Asn595Ser) c.515A>G n.2778A>G c.1652A>G (p.Asn551Ser) c.1403A>G (p.Asn468Ser) | |
| 3 | g.133775529A>T | CA354610399 | TF | c.1784A>T (p.Asn595Ile) c.515A>T n.2778A>T c.1652A>T (p.Asn551Ile) c.1403A>T (p.Asn468Ile) | |
| 3 | g.133775530C>A | CA354610401 | TF | c.1785C>A (p.Asn595Lys) c.516C>A n.2779C>A c.1653C>A (p.Asn551Lys) c.1404C>A (p.Asn468Lys) | gnomAD v4 |
| 3 | g.133775530C= | CA1403122782 | TF | c.1785C= (p.Asn595=) c.516C= n.2779C= c.1653C= (p.Asn551=) c.1404C= (p.Asn468=) | |
| 3 | g.133775530C>G | CA354610402 | TF | c.1785C>G (p.Asn595Lys) c.516C>G n.2779C>G c.1653C>G (p.Asn551Lys) c.1404C>G (p.Asn468Lys) | |
| 3 | g.133775530C>T | CA2625412 | TF | c.1785C>T (p.Asn595=) c.516C>T n.2779C>T c.1653C>T (p.Asn551=) c.1404C>T (p.Asn468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775531T>A | CA354610403 | TF | c.1786T>A (p.Cys596Ser) c.517T>A n.2780T>A c.1654T>A (p.Cys552Ser) c.1405T>A (p.Cys469Ser) | |
| 3 | g.133775531T>C | CA354610405 | TF | c.1786T>C (p.Cys596Arg) c.517T>C n.2780T>C c.1654T>C (p.Cys552Arg) c.1405T>C (p.Cys469Arg) | |
| 3 | g.133775531T>G | CA354610404 | TF | c.1786T>G (p.Cys596Gly) c.517T>G n.2780T>G c.1654T>G (p.Cys552Gly) c.1405T>G (p.Cys469Gly) | |
| 3 | g.133775532G>A | CA354610406 | TF | c.1787G>A (p.Cys596Tyr) c.518G>A n.2781G>A c.1655G>A (p.Cys552Tyr) c.1406G>A (p.Cys469Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775532G>C | CA354610408 | TF | c.1787G>C (p.Cys596Ser) c.518G>C n.2781G>C c.1655G>C (p.Cys552Ser) c.1406G>C (p.Cys469Ser) | |
| 3 | g.133775532G= | CA1403122791 | TF | c.1787G= (p.Cys596=) c.518G= n.2781G= c.1655G= (p.Cys552=) c.1406G= (p.Cys469=) | |
| 3 | g.133775532G>T | CA354610407 | TF | c.1787G>T (p.Cys596Phe) c.518G>T n.2781G>T c.1655G>T (p.Cys552Phe) c.1406G>T (p.Cys469Phe) |