| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.68885519_68885521del | CA2609414492 | STOX1 | c.1723_1725del (p.Asn575del) c.2059_2061del (p.Asn687del) c.463+3409_463+3411del (n.463+3409_463+3411del) c.663+1060_663+1062del (n.663+1060_663+1062del) c.1393_1395del (p.Asn465del) | gnomAD v4 |
| 10 | g.68885520A= | CA1917550018 | STOX1 | c.1724A= (p.Asn575=) c.2060A= (p.Asn687=) c.463+3410A= (n.463+3410A=) c.663+1061A= (n.663+1061A=) c.1394A= (p.Asn465=) | |
| 10 | g.68885520A>C | CA376881676 | STOX1 | c.1724A>C (p.Asn575Thr) c.2060A>C (p.Asn687Thr) c.463+3410A>C (n.463+3410A>C) c.663+1061A>C (n.663+1061A>C) c.1394A>C (p.Asn465Thr) | |
| 10 | g.68885520A>G | CA208268148 | STOX1 | c.1724A>G (p.Asn575Ser) c.2060A>G (p.Asn687Ser) c.463+3410A>G (n.463+3410A>G) c.663+1061A>G (n.663+1061A>G) c.1394A>G (p.Asn465Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68885520A>T | CA376881675 | STOX1 | c.1724A>T (p.Asn575Ile) c.2060A>T (p.Asn687Ile) c.463+3410A>T (n.463+3410A>T) c.663+1061A>T (n.663+1061A>T) c.1394A>T (p.Asn465Ile) | |
| 10 | g.68885521T>A | CA376881677 | STOX1 | c.1725T>A (p.Asn575Lys) c.2061T>A (p.Asn687Lys) c.463+3411T>A (n.463+3411T>A) c.663+1062T>A (n.663+1062T>A) c.1395T>A (p.Asn465Lys) | |
| 10 | g.68885521T>C | CA470274620 | STOX1 | c.1725T>C (p.Asn575=) c.2061T>C (p.Asn687=) c.463+3411T>C (n.463+3411T>C) c.663+1062T>C (n.663+1062T>C) c.1395T>C (p.Asn465=) | |
| 10 | g.68885521T>G | CA376881678 | STOX1 | c.1725T>G (p.Asn575Lys) c.2061T>G (p.Asn687Lys) c.463+3411T>G (n.463+3411T>G) c.663+1062T>G (n.663+1062T>G) c.1395T>G (p.Asn465Lys) | |
| 10 | g.68885522G>A | CA376881679 | STOX1 | c.1726G>A (p.Asp576Asn) c.2062G>A (p.Asp688Asn) c.463+3412G>A (n.463+3412G>A) c.663+1063G>A (n.663+1063G>A) c.1396G>A (p.Asp466Asn) | |
| 10 | g.68885522G>C | CA376881680 | STOX1 | c.1726G>C (p.Asp576His) c.2062G>C (p.Asp688His) c.463+3412G>C (n.463+3412G>C) c.663+1063G>C (n.663+1063G>C) c.1396G>C (p.Asp466His) | |
| 10 | g.68885522G>T | CA376881681 | STOX1 | c.1726G>T (p.Asp576Tyr) c.2062G>T (p.Asp688Tyr) c.463+3412G>T (n.463+3412G>T) c.663+1063G>T (n.663+1063G>T) c.1396G>T (p.Asp466Tyr) | |
| 10 | g.68885523A>C | CA376881684 | STOX1 | c.1727A>C (p.Asp576Ala) c.2063A>C (p.Asp688Ala) c.463+3413A>C (n.463+3413A>C) c.663+1064A>C (n.663+1064A>C) c.1397A>C (p.Asp466Ala) | gnomAD v4 |
| 10 | g.68885523A>G | CA376881682 | STOX1 | c.1727A>G (p.Asp576Gly) c.2063A>G (p.Asp688Gly) c.463+3413A>G (n.463+3413A>G) c.663+1064A>G (n.663+1064A>G) c.1397A>G (p.Asp466Gly) | gnomAD v4 |
| 10 | g.68885523A>T | CA376881683 | STOX1 | c.1727A>T (p.Asp576Val) c.2063A>T (p.Asp688Val) c.463+3413A>T (n.463+3413A>T) c.663+1064A>T (n.663+1064A>T) c.1397A>T (p.Asp466Val) | |
| 10 | g.68885524T>A | CA376881685 | STOX1 | c.1728T>A (p.Asp576Glu) c.2064T>A (p.Asp688Glu) c.463+3414T>A (n.463+3414T>A) c.663+1065T>A (n.663+1065T>A) c.1398T>A (p.Asp466Glu) | |
| 10 | g.68885524T>C | CA470274624 | STOX1 | c.1728T>C (p.Asp576=) c.2064T>C (p.Asp688=) c.463+3414T>C (n.463+3414T>C) c.663+1065T>C (n.663+1065T>C) c.1398T>C (p.Asp466=) | |
| 10 | g.68885524T>G | CA376881686 | STOX1 | c.1728T>G (p.Asp576Glu) c.2064T>G (p.Asp688Glu) c.463+3414T>G (n.463+3414T>G) c.663+1065T>G (n.663+1065T>G) c.1398T>G (p.Asp466Glu) | |
| 10 | g.68885525G>A | CA376881687 | STOX1 | c.1729G>A (p.Asp577Asn) c.2065G>A (p.Asp689Asn) c.463+3415G>A (n.463+3415G>A) c.663+1066G>A (n.663+1066G>A) c.1399G>A (p.Asp467Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68885525G>C | CA376881688 | STOX1 | c.1729G>C (p.Asp577His) c.2065G>C (p.Asp689His) c.463+3415G>C (n.463+3415G>C) c.663+1066G>C (n.663+1066G>C) c.1399G>C (p.Asp467His) | |
| 10 | g.68885525G= | CA1917550019 | STOX1 | c.1729G= (p.Asp577=) c.2065G= (p.Asp689=) c.463+3415G= (n.463+3415G=) c.663+1066G= (n.663+1066G=) c.1399G= (p.Asp467=) | |
| 10 | g.68885525G>T | CA376881689 | STOX1 | c.1729G>T (p.Asp577Tyr) c.2065G>T (p.Asp689Tyr) c.463+3415G>T (n.463+3415G>T) c.663+1066G>T (n.663+1066G>T) c.1399G>T (p.Asp467Tyr) | |
| 10 | g.68885526A>C | CA376881690 | STOX1 | c.1730A>C (p.Asp577Ala) c.2066A>C (p.Asp689Ala) c.463+3416A>C (n.463+3416A>C) c.663+1067A>C (n.663+1067A>C) c.1400A>C (p.Asp467Ala) | |
| 10 | g.68885526A>G | CA376881691 | STOX1 | c.1730A>G (p.Asp577Gly) c.2066A>G (p.Asp689Gly) c.463+3416A>G (n.463+3416A>G) c.663+1067A>G (n.663+1067A>G) c.1400A>G (p.Asp467Gly) | |
| 10 | g.68885526A>T | CA376881692 | STOX1 | c.1730A>T (p.Asp577Val) c.2066A>T (p.Asp689Val) c.463+3416A>T (n.463+3416A>T) c.663+1067A>T (n.663+1067A>T) c.1400A>T (p.Asp467Val) | |
| 10 | g.68885527C>A | CA376881693 | STOX1 | c.1731C>A (p.Asp577Glu) c.2067C>A (p.Asp689Glu) c.463+3417C>A (n.463+3417C>A) c.663+1068C>A (n.663+1068C>A) c.1401C>A (p.Asp467Glu) | |
| 10 | g.68885527C= | CA1917550020 | STOX1 | c.1731C= (p.Asp577=) c.2067C= (p.Asp689=) c.463+3417C= (n.463+3417C=) c.663+1068C= (n.663+1068C=) c.1401C= (p.Asp467=) | |
| 10 | g.68885527C>G | CA376881694 | STOX1 | c.1731C>G (p.Asp577Glu) c.2067C>G (p.Asp689Glu) c.463+3417C>G (n.463+3417C>G) c.663+1068C>G (n.663+1068C>G) c.1401C>G (p.Asp467Glu) | |
| 10 | g.68885527C>T | CA470274628 | STOX1 | c.1731C>T (p.Asp577=) c.2067C>T (p.Asp689=) c.463+3417C>T (n.463+3417C>T) c.663+1068C>T (n.663+1068C>T) c.1401C>T (p.Asp467=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.68885528T>A | CA5528217 | STOX1 | c.1732T>A (p.Phe578Ile) c.2068T>A (p.Phe690Ile) c.463+3418T>A (n.463+3418T>A) c.663+1069T>A (n.663+1069T>A) c.1402T>A (p.Phe468Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.68885528T>C | CA376881695 | STOX1 | c.1732T>C (p.Phe578Leu) c.2068T>C (p.Phe690Leu) c.463+3418T>C (n.463+3418T>C) c.663+1069T>C (n.663+1069T>C) c.1402T>C (p.Phe468Leu) | |
| 10 | g.68885528T>G | CA376881696 | STOX1 | c.1732T>G (p.Phe578Val) c.2068T>G (p.Phe690Val) c.463+3418T>G (n.463+3418T>G) c.663+1069T>G (n.663+1069T>G) c.1402T>G (p.Phe468Val) | |
| 10 | g.68885528T= | CA1917550021 | STOX1 | c.1732T= (p.Phe578=) c.2068T= (p.Phe690=) c.463+3418T= (n.463+3418T=) c.663+1069T= (n.663+1069T=) c.1402T= (p.Phe468=) | |
| 10 | g.68885529T>A | CA376881697 | STOX1 | c.1733T>A (p.Phe578Tyr) c.2069T>A (p.Phe690Tyr) c.463+3419T>A (n.463+3419T>A) c.663+1070T>A (n.663+1070T>A) c.1403T>A (p.Phe468Tyr) | |
| 10 | g.68885529T>C | CA376881699 | STOX1 | c.1733T>C (p.Phe578Ser) c.2069T>C (p.Phe690Ser) c.463+3419T>C (n.463+3419T>C) c.663+1070T>C (n.663+1070T>C) c.1403T>C (p.Phe468Ser) | |
| 10 | g.68885529T>G | CA376881698 | STOX1 | c.1733T>G (p.Phe578Cys) c.2069T>G (p.Phe690Cys) c.463+3419T>G (n.463+3419T>G) c.663+1070T>G (n.663+1070T>G) c.1403T>G (p.Phe468Cys) | |
| 10 | g.68885530C>A | CA376881700 | STOX1 | c.1734C>A (p.Phe578Leu) c.2070C>A (p.Phe690Leu) c.463+3420C>A (n.463+3420C>A) c.663+1071C>A (n.663+1071C>A) c.1404C>A (p.Phe468Leu) | |
| 10 | g.68885530C>G | CA376881701 | STOX1 | c.1734C>G (p.Phe578Leu) c.2070C>G (p.Phe690Leu) c.463+3420C>G (n.463+3420C>G) c.663+1071C>G (n.663+1071C>G) c.1404C>G (p.Phe468Leu) | |
| 10 | g.68885530C>T | CA470274060 | STOX1 | c.1734C>T (p.Phe578=) c.2070C>T (p.Phe690=) c.463+3420C>T (n.463+3420C>T) c.663+1071C>T (n.663+1071C>T) c.1404C>T (p.Phe468=) | |
| 10 | g.68885531A>C | CA470274061 | STOX1 | c.1735A>C (p.Arg579=) c.2071A>C (p.Arg691=) c.463+3421A>C (n.463+3421A>C) c.663+1072A>C (n.663+1072A>C) c.1405A>C (p.Arg469=) | |
| 10 | g.68885531A>G | CA376881702 | STOX1 | c.1735A>G (p.Arg579Gly) c.2071A>G (p.Arg691Gly) c.463+3421A>G (n.463+3421A>G) c.663+1072A>G (n.663+1072A>G) c.1405A>G (p.Arg469Gly) | |
| 10 | g.68885531A>T | CA376881703 | STOX1 | c.1735A>T (p.Arg579Ter) c.2071A>T (p.Arg691Ter) c.463+3421A>T (n.463+3421A>T) c.663+1072A>T (n.663+1072A>T) c.1405A>T (p.Arg469Ter) | |
| 10 | g.68885532G>A | CA376881704 | STOX1 | c.1736G>A (p.Arg579Lys) c.2072G>A (p.Arg691Lys) c.463+3422G>A (n.463+3422G>A) c.663+1073G>A (n.663+1073G>A) c.1406G>A (p.Arg469Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885532G>C | CA376881705 | STOX1 | c.1736G>C (p.Arg579Thr) c.2072G>C (p.Arg691Thr) c.463+3422G>C (n.463+3422G>C) c.663+1073G>C (n.663+1073G>C) c.1406G>C (p.Arg469Thr) | |
| 10 | g.68885532G= | CA1917550022 | STOX1 | c.1736G= (p.Arg579=) c.2072G= (p.Arg691=) c.463+3422G= (n.463+3422G=) c.663+1073G= (n.663+1073G=) c.1406G= (p.Arg469=) | |
| 10 | g.68885532G>T | CA376881706 | STOX1 | c.1736G>T (p.Arg579Ile) c.2072G>T (p.Arg691Ile) c.463+3422G>T (n.463+3422G>T) c.663+1073G>T (n.663+1073G>T) c.1406G>T (p.Arg469Ile) | |
| 10 | g.68885533A>C | CA376881707 | STOX1 | c.1737A>C (p.Arg579Ser) c.2073A>C (p.Arg691Ser) c.463+3423A>C (n.463+3423A>C) c.663+1074A>C (n.663+1074A>C) c.1407A>C (p.Arg469Ser) | |
| 10 | g.68885533A>G | CA470274062 | STOX1 | c.1737A>G (p.Arg579=) c.2073A>G (p.Arg691=) c.463+3423A>G (n.463+3423A>G) c.663+1074A>G (n.663+1074A>G) c.1407A>G (p.Arg469=) | |
| 10 | g.68885533A>T | CA376881708 | STOX1 | c.1737A>T (p.Arg579Ser) c.2073A>T (p.Arg691Ser) c.463+3423A>T (n.463+3423A>T) c.663+1074A>T (n.663+1074A>T) c.1407A>T (p.Arg469Ser) | gnomAD v4 |
| 10 | g.68885534G>A | CA5528218 | STOX1 | c.1738G>A (p.Gly580Ser) c.2074G>A (p.Gly692Ser) c.463+3424G>A (n.463+3424G>A) c.663+1075G>A (n.663+1075G>A) c.1408G>A (p.Gly470Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68885534G>C | CA376881709 | STOX1 | c.1738G>C (p.Gly580Arg) c.2074G>C (p.Gly692Arg) c.463+3424G>C (n.463+3424G>C) c.663+1075G>C (n.663+1075G>C) c.1408G>C (p.Gly470Arg) |