Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.232791426A= | CA1335433575 | GIGYF2 | c.1262A= (p.Lys421=) c.608A= (p.Lys203=) c.743A= (p.Lys248=) c.518A= (p.Lys173=) c.755A= (p.Lys252=) c.1244A= (p.Lys415=) c.1325A= (p.Lys442=) c.1328A= (p.Lys443=) c.1091A= (p.Lys364=) c.*255A= (n.*255A=) n.1375A= | |
2 | g.232791426A>C | CA351013627 | GIGYF2 | c.1262A>C (p.Lys421Thr) c.608A>C (p.Lys203Thr) c.743A>C (p.Lys248Thr) c.518A>C (p.Lys173Thr) c.755A>C (p.Lys252Thr) c.1244A>C (p.Lys415Thr) c.1325A>C (p.Lys442Thr) c.1328A>C (p.Lys443Thr) c.1091A>C (p.Lys364Thr) c.*255A>C (n.*255A>C) n.1375A>C | dbSNP gnomAD v4 |
2 | g.232791426A>G | CA251597 | GIGYF2 | c.1262A>G (p.Lys421Arg) c.608A>G (p.Lys203Arg) c.743A>G (p.Lys248Arg) c.518A>G (p.Lys173Arg) c.755A>G (p.Lys252Arg) c.1244A>G (p.Lys415Arg) c.1325A>G (p.Lys442Arg) c.1328A>G (p.Lys443Arg) c.1091A>G (p.Lys364Arg) c.*255A>G (n.*255A>G) n.1375A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232791426A>T | CA351013626 | GIGYF2 | c.1262A>T (p.Lys421Ile) c.608A>T (p.Lys203Ile) c.743A>T (p.Lys248Ile) c.518A>T (p.Lys173Ile) c.755A>T (p.Lys252Ile) c.1244A>T (p.Lys415Ile) c.1325A>T (p.Lys442Ile) c.1328A>T (p.Lys443Ile) c.1091A>T (p.Lys364Ile) c.*255A>T (n.*255A>T) n.1375A>T | |
2 | g.232791427A>C | CA351014042 | GIGYF2 | c.1263A>C (p.Lys421Asn) c.609A>C (p.Lys203Asn) c.744A>C (p.Lys248Asn) c.519A>C (p.Lys173Asn) c.756A>C (p.Lys252Asn) c.1245A>C (p.Lys415Asn) c.1326A>C (p.Lys442Asn) c.1329A>C (p.Lys443Asn) c.1092A>C (p.Lys364Asn) c.*256A>C (n.*256A>C) n.1376A>C | |
2 | g.232791427A>G | CA431808286 | GIGYF2 | c.1263A>G (p.Lys421=) c.609A>G (p.Lys203=) c.744A>G (p.Lys248=) c.519A>G (p.Lys173=) c.756A>G (p.Lys252=) c.1245A>G (p.Lys415=) c.1326A>G (p.Lys442=) c.1329A>G (p.Lys443=) c.1092A>G (p.Lys364=) c.*256A>G (n.*256A>G) n.1376A>G | |
2 | g.232791427A>T | CA351014044 | GIGYF2 | c.1263A>T (p.Lys421Asn) c.609A>T (p.Lys203Asn) c.744A>T (p.Lys248Asn) c.519A>T (p.Lys173Asn) c.756A>T (p.Lys252Asn) c.1245A>T (p.Lys415Asn) c.1326A>T (p.Lys442Asn) c.1329A>T (p.Lys443Asn) c.1092A>T (p.Lys364Asn) c.*256A>T (n.*256A>T) n.1376A>T | |
2 | g.232791428G>A | CA351014047 | GIGYF2 | c.1264G>A (p.Val422Met) c.610G>A (p.Val204Met) c.745G>A (p.Val249Met) c.520G>A (p.Val174Met) c.757G>A (p.Val253Met) c.1246G>A (p.Val416Met) c.1327G>A (p.Val443Met) c.1330G>A (p.Val444Met) c.1093G>A (p.Val365Met) c.*257G>A (n.*257G>A) n.1377G>A | |
2 | g.232791428G>C | CA351014048 | GIGYF2 | c.1264G>C (p.Val422Leu) c.610G>C (p.Val204Leu) c.745G>C (p.Val249Leu) c.520G>C (p.Val174Leu) c.757G>C (p.Val253Leu) c.1246G>C (p.Val416Leu) c.1327G>C (p.Val443Leu) c.1330G>C (p.Val444Leu) c.1093G>C (p.Val365Leu) c.*257G>C (n.*257G>C) n.1377G>C | |
2 | g.232791428G>T | CA351014050 | GIGYF2 | c.1264G>T (p.Val422Leu) c.610G>T (p.Val204Leu) c.745G>T (p.Val249Leu) c.520G>T (p.Val174Leu) c.757G>T (p.Val253Leu) c.1246G>T (p.Val416Leu) c.1327G>T (p.Val443Leu) c.1330G>T (p.Val444Leu) c.1093G>T (p.Val365Leu) c.*257G>T (n.*257G>T) n.1377G>T | |
2 | g.232791429T>A | CA351014055 | GIGYF2 | c.1265T>A (p.Val422Glu) c.611T>A (p.Val204Glu) c.746T>A (p.Val249Glu) c.521T>A (p.Val174Glu) c.758T>A (p.Val253Glu) c.1247T>A (p.Val416Glu) c.1328T>A (p.Val443Glu) c.1331T>A (p.Val444Glu) c.1094T>A (p.Val365Glu) c.*258T>A (n.*258T>A) n.1378T>A | |
2 | g.232791429T>C | CA351014054 | GIGYF2 | c.1265T>C (p.Val422Ala) c.611T>C (p.Val204Ala) c.746T>C (p.Val249Ala) c.521T>C (p.Val174Ala) c.758T>C (p.Val253Ala) c.1247T>C (p.Val416Ala) c.1328T>C (p.Val443Ala) c.1331T>C (p.Val444Ala) c.1094T>C (p.Val365Ala) c.*258T>C (n.*258T>C) n.1378T>C | |
2 | g.232791429T>G | CA351014052 | GIGYF2 | c.1265T>G (p.Val422Gly) c.611T>G (p.Val204Gly) c.746T>G (p.Val249Gly) c.521T>G (p.Val174Gly) c.758T>G (p.Val253Gly) c.1247T>G (p.Val416Gly) c.1328T>G (p.Val443Gly) c.1331T>G (p.Val444Gly) c.1094T>G (p.Val365Gly) c.*258T>G (n.*258T>G) n.1378T>G | |
2 | g.232791430G>A | CA431808287 | GIGYF2 | c.1266G>A (p.Val422=) c.612G>A (p.Val204=) c.747G>A (p.Val249=) c.522G>A (p.Val174=) c.759G>A (p.Val253=) c.1248G>A (p.Val416=) c.1329G>A (p.Val443=) c.1332G>A (p.Val444=) c.1095G>A (p.Val365=) c.*259G>A (n.*259G>A) n.1379G>A | |
2 | g.232791430G>C | CA431808288 | GIGYF2 | c.1266G>C (p.Val422=) c.612G>C (p.Val204=) c.747G>C (p.Val249=) c.522G>C (p.Val174=) c.759G>C (p.Val253=) c.1248G>C (p.Val416=) c.1329G>C (p.Val443=) c.1332G>C (p.Val444=) c.1095G>C (p.Val365=) c.*259G>C (n.*259G>C) n.1379G>C | |
2 | g.232791430G>T | CA431808289 | GIGYF2 | c.1266G>T (p.Val422=) c.612G>T (p.Val204=) c.747G>T (p.Val249=) c.522G>T (p.Val174=) c.759G>T (p.Val253=) c.1248G>T (p.Val416=) c.1329G>T (p.Val443=) c.1332G>T (p.Val444=) c.1095G>T (p.Val365=) c.*259G>T (n.*259G>T) n.1379G>T | |
2 | g.232791431C>A | CA351014057 | GIGYF2 | c.1267C>A (p.Pro423Thr) c.613C>A (p.Pro205Thr) c.748C>A (p.Pro250Thr) c.523C>A (p.Pro175Thr) c.760C>A (p.Pro254Thr) c.1249C>A (p.Pro417Thr) c.1330C>A (p.Pro444Thr) c.1333C>A (p.Pro445Thr) c.1096C>A (p.Pro366Thr) c.*260C>A (n.*260C>A) n.1380C>A | |
2 | g.232791431C= | CA1335433576 | GIGYF2 | c.1267C= (p.Pro423=) c.613C= (p.Pro205=) c.748C= (p.Pro250=) c.523C= (p.Pro175=) c.760C= (p.Pro254=) c.1249C= (p.Pro417=) c.1330C= (p.Pro444=) c.1333C= (p.Pro445=) c.1096C= (p.Pro366=) c.*260C= (n.*260C=) n.1380C= | |
2 | g.232791431C>G | CA351014059 | GIGYF2 | c.1267C>G (p.Pro423Ala) c.613C>G (p.Pro205Ala) c.748C>G (p.Pro250Ala) c.523C>G (p.Pro175Ala) c.760C>G (p.Pro254Ala) c.1249C>G (p.Pro417Ala) c.1330C>G (p.Pro444Ala) c.1333C>G (p.Pro445Ala) c.1096C>G (p.Pro366Ala) c.*260C>G (n.*260C>G) n.1380C>G | |
2 | g.232791431C>T | CA351014060 | GIGYF2 | c.1267C>T (p.Pro423Ser) c.613C>T (p.Pro205Ser) c.748C>T (p.Pro250Ser) c.523C>T (p.Pro175Ser) c.760C>T (p.Pro254Ser) c.1249C>T (p.Pro417Ser) c.1330C>T (p.Pro444Ser) c.1333C>T (p.Pro445Ser) c.1096C>T (p.Pro366Ser) c.*260C>T (n.*260C>T) n.1380C>T | dbSNP gnomAD v2 |
2 | g.232791432C>A | CA2170305 | GIGYF2 | c.1268C>A (p.Pro423His) c.614C>A (p.Pro205His) c.749C>A (p.Pro250His) c.524C>A (p.Pro175His) c.761C>A (p.Pro254His) c.1250C>A (p.Pro417His) c.1331C>A (p.Pro444His) c.1334C>A (p.Pro445His) c.1097C>A (p.Pro366His) c.*261C>A (n.*261C>A) n.1381C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232791432C= | CA1335433577 | GIGYF2 | c.1268C= (p.Pro423=) c.614C= (p.Pro205=) c.749C= (p.Pro250=) c.524C= (p.Pro175=) c.761C= (p.Pro254=) c.1250C= (p.Pro417=) c.1331C= (p.Pro444=) c.1334C= (p.Pro445=) c.1097C= (p.Pro366=) c.*261C= (n.*261C=) n.1381C= | |
2 | g.232791432C>G | CA351014062 | GIGYF2 | c.1268C>G (p.Pro423Arg) c.614C>G (p.Pro205Arg) c.749C>G (p.Pro250Arg) c.524C>G (p.Pro175Arg) c.761C>G (p.Pro254Arg) c.1250C>G (p.Pro417Arg) c.1331C>G (p.Pro444Arg) c.1334C>G (p.Pro445Arg) c.1097C>G (p.Pro366Arg) c.*261C>G (n.*261C>G) n.1381C>G | |
2 | g.232791432C>T | CA2170304 | GIGYF2 | c.1268C>T (p.Pro423Leu) c.614C>T (p.Pro205Leu) c.749C>T (p.Pro250Leu) c.524C>T (p.Pro175Leu) c.761C>T (p.Pro254Leu) c.1250C>T (p.Pro417Leu) c.1331C>T (p.Pro444Leu) c.1334C>T (p.Pro445Leu) c.1097C>T (p.Pro366Leu) c.*261C>T (n.*261C>T) n.1381C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232791433C>A | CA431808290 | GIGYF2 | c.1269C>A (p.Pro423=) c.615C>A (p.Pro205=) c.750C>A (p.Pro250=) c.525C>A (p.Pro175=) c.762C>A (p.Pro254=) c.1251C>A (p.Pro417=) c.1332C>A (p.Pro444=) c.1335C>A (p.Pro445=) c.1098C>A (p.Pro366=) c.*262C>A (n.*262C>A) n.1382C>A | |
2 | g.232791433C>G | CA431808291 | GIGYF2 | c.1269C>G (p.Pro423=) c.615C>G (p.Pro205=) c.750C>G (p.Pro250=) c.525C>G (p.Pro175=) c.762C>G (p.Pro254=) c.1251C>G (p.Pro417=) c.1332C>G (p.Pro444=) c.1335C>G (p.Pro445=) c.1098C>G (p.Pro366=) c.*262C>G (n.*262C>G) n.1382C>G | |
2 | g.232791433C>T | CA431808292 | GIGYF2 | c.1269C>T (p.Pro423=) c.615C>T (p.Pro205=) c.750C>T (p.Pro250=) c.525C>T (p.Pro175=) c.762C>T (p.Pro254=) c.1251C>T (p.Pro417=) c.1332C>T (p.Pro444=) c.1335C>T (p.Pro445=) c.1098C>T (p.Pro366=) c.*262C>T (n.*262C>T) n.1382C>T | |
2 | g.232791434A= | CA1335433578 | GIGYF2 | c.1270A= (p.Ser424=) c.616A= (p.Ser206=) c.751A= (p.Ser251=) c.526A= (p.Ser176=) c.763A= (p.Ser255=) c.1252A= (p.Ser418=) c.1333A= (p.Ser445=) c.1336A= (p.Ser446=) c.1099A= (p.Ser367=) c.*263A= (n.*263A=) n.1383A= | |
2 | g.232791434A>C | CA2170307 | GIGYF2 | c.1270A>C (p.Ser424Arg) c.616A>C (p.Ser206Arg) c.751A>C (p.Ser251Arg) c.526A>C (p.Ser176Arg) c.763A>C (p.Ser255Arg) c.1252A>C (p.Ser418Arg) c.1333A>C (p.Ser445Arg) c.1336A>C (p.Ser446Arg) c.1099A>C (p.Ser367Arg) c.*263A>C (n.*263A>C) n.1383A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232791434A>G | CA2170306 | GIGYF2 | c.1270A>G (p.Ser424Gly) c.616A>G (p.Ser206Gly) c.751A>G (p.Ser251Gly) c.526A>G (p.Ser176Gly) c.763A>G (p.Ser255Gly) c.1252A>G (p.Ser418Gly) c.1333A>G (p.Ser445Gly) c.1336A>G (p.Ser446Gly) c.1099A>G (p.Ser367Gly) c.*263A>G (n.*263A>G) n.1383A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232791434A>T | CA351014065 | GIGYF2 | c.1270A>T (p.Ser424Cys) c.616A>T (p.Ser206Cys) c.751A>T (p.Ser251Cys) c.526A>T (p.Ser176Cys) c.763A>T (p.Ser255Cys) c.1252A>T (p.Ser418Cys) c.1333A>T (p.Ser445Cys) c.1336A>T (p.Ser446Cys) c.1099A>T (p.Ser367Cys) c.*263A>T (n.*263A>T) n.1383A>T | |
2 | g.232791435G>A | CA351014069 | GIGYF2 | c.1271G>A (p.Ser424Asn) c.617G>A (p.Ser206Asn) c.752G>A (p.Ser251Asn) c.527G>A (p.Ser176Asn) c.764G>A (p.Ser255Asn) c.1253G>A (p.Ser418Asn) c.1334G>A (p.Ser445Asn) c.1337G>A (p.Ser446Asn) c.1100G>A (p.Ser367Asn) c.*264G>A (n.*264G>A) n.1384G>A | |
2 | g.232791435G>C | CA351014070 | GIGYF2 | c.1271G>C (p.Ser424Thr) c.617G>C (p.Ser206Thr) c.752G>C (p.Ser251Thr) c.527G>C (p.Ser176Thr) c.764G>C (p.Ser255Thr) c.1253G>C (p.Ser418Thr) c.1334G>C (p.Ser445Thr) c.1337G>C (p.Ser446Thr) c.1100G>C (p.Ser367Thr) c.*264G>C (n.*264G>C) n.1384G>C | dbSNP |
2 | g.232791435G>T | CA351014072 | GIGYF2 | c.1271G>T (p.Ser424Ile) c.617G>T (p.Ser206Ile) c.752G>T (p.Ser251Ile) c.527G>T (p.Ser176Ile) c.764G>T (p.Ser255Ile) c.1253G>T (p.Ser418Ile) c.1334G>T (p.Ser445Ile) c.1337G>T (p.Ser446Ile) c.1100G>T (p.Ser367Ile) c.*264G>T (n.*264G>T) n.1384G>T | |
2 | g.232791436C>A | CA351014074 | GIGYF2 | c.1272C>A (p.Ser424Arg) c.618C>A (p.Ser206Arg) c.753C>A (p.Ser251Arg) c.528C>A (p.Ser176Arg) c.765C>A (p.Ser255Arg) c.1254C>A (p.Ser418Arg) c.1335C>A (p.Ser445Arg) c.1338C>A (p.Ser446Arg) c.1101C>A (p.Ser367Arg) c.*265C>A (n.*265C>A) n.1385C>A | |
2 | g.232791436C= | CA1335433579 | GIGYF2 | c.1272C= (p.Ser424=) c.618C= (p.Ser206=) c.753C= (p.Ser251=) c.528C= (p.Ser176=) c.765C= (p.Ser255=) c.1254C= (p.Ser418=) c.1335C= (p.Ser445=) c.1338C= (p.Ser446=) c.1101C= (p.Ser367=) c.*265C= (n.*265C=) n.1385C= | |
2 | g.232791436C>G | CA351014076 | GIGYF2 | c.1272C>G (p.Ser424Arg) c.618C>G (p.Ser206Arg) c.753C>G (p.Ser251Arg) c.528C>G (p.Ser176Arg) c.765C>G (p.Ser255Arg) c.1254C>G (p.Ser418Arg) c.1335C>G (p.Ser445Arg) c.1338C>G (p.Ser446Arg) c.1101C>G (p.Ser367Arg) c.*265C>G (n.*265C>G) n.1385C>G | |
2 | g.232791436C>T | CA431808293 | GIGYF2 | c.1272C>T (p.Ser424=) c.618C>T (p.Ser206=) c.753C>T (p.Ser251=) c.528C>T (p.Ser176=) c.765C>T (p.Ser255=) c.1254C>T (p.Ser418=) c.1335C>T (p.Ser445=) c.1338C>T (p.Ser446=) c.1101C>T (p.Ser367=) c.*265C>T (n.*265C>T) n.1385C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232791437A= | CA1335433580 | GIGYF2 | c.1273A= (p.Arg425=) c.619A= (p.Arg207=) c.754A= (p.Arg252=) c.529A= (p.Arg177=) c.766A= (p.Arg256=) c.1255A= (p.Arg419=) c.1336A= (p.Arg446=) c.1339A= (p.Arg447=) c.1102A= (p.Arg368=) c.*266A= (n.*266A=) n.1386A= | |
2 | g.232791437A>C | CA431808294 | GIGYF2 | c.1273A>C (p.Arg425=) c.619A>C (p.Arg207=) c.754A>C (p.Arg252=) c.529A>C (p.Arg177=) c.766A>C (p.Arg256=) c.1255A>C (p.Arg419=) c.1336A>C (p.Arg446=) c.1339A>C (p.Arg447=) c.1102A>C (p.Arg368=) c.*266A>C (n.*266A>C) n.1386A>C | |
2 | g.232791437A>G | CA2170308 | GIGYF2 | c.1273A>G (p.Arg425Gly) c.619A>G (p.Arg207Gly) c.754A>G (p.Arg252Gly) c.529A>G (p.Arg177Gly) c.766A>G (p.Arg256Gly) c.1255A>G (p.Arg419Gly) c.1336A>G (p.Arg446Gly) c.1339A>G (p.Arg447Gly) c.1102A>G (p.Arg368Gly) c.*266A>G (n.*266A>G) n.1386A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232791437A>T | CA351014078 | GIGYF2 | c.1273A>T (p.Arg425Ter) c.619A>T (p.Arg207Ter) c.754A>T (p.Arg252Ter) c.529A>T (p.Arg177Ter) c.766A>T (p.Arg256Ter) c.1255A>T (p.Arg419Ter) c.1336A>T (p.Arg446Ter) c.1339A>T (p.Arg447Ter) c.1102A>T (p.Arg368Ter) c.*266A>T (n.*266A>T) n.1386A>T | |
2 | g.232791438G>A | CA351014080 | GIGYF2 | c.1274G>A (p.Arg425Lys) c.620G>A (p.Arg207Lys) c.755G>A (p.Arg252Lys) c.530G>A (p.Arg177Lys) c.767G>A (p.Arg256Lys) c.1256G>A (p.Arg419Lys) c.1337G>A (p.Arg446Lys) c.1340G>A (p.Arg447Lys) c.1103G>A (p.Arg368Lys) c.*267G>A (n.*267G>A) n.1387G>A | |
2 | g.232791438G>C | CA2170309 | GIGYF2 | c.1274G>C (p.Arg425Thr) c.620G>C (p.Arg207Thr) c.755G>C (p.Arg252Thr) c.530G>C (p.Arg177Thr) c.767G>C (p.Arg256Thr) c.1256G>C (p.Arg419Thr) c.1337G>C (p.Arg446Thr) c.1340G>C (p.Arg447Thr) c.1103G>C (p.Arg368Thr) c.*267G>C (n.*267G>C) n.1387G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232791438G= | CA1335433581 | GIGYF2 | c.1274G= (p.Arg425=) c.620G= (p.Arg207=) c.755G= (p.Arg252=) c.530G= (p.Arg177=) c.767G= (p.Arg256=) c.1256G= (p.Arg419=) c.1337G= (p.Arg446=) c.1340G= (p.Arg447=) c.1103G= (p.Arg368=) c.*267G= (n.*267G=) n.1387G= | |
2 | g.232791438G>T | CA351014082 | GIGYF2 | c.1274G>T (p.Arg425Ile) c.620G>T (p.Arg207Ile) c.755G>T (p.Arg252Ile) c.530G>T (p.Arg177Ile) c.767G>T (p.Arg256Ile) c.1256G>T (p.Arg419Ile) c.1337G>T (p.Arg446Ile) c.1340G>T (p.Arg447Ile) c.1103G>T (p.Arg368Ile) c.*267G>T (n.*267G>T) n.1387G>T | |
2 | g.232791439A>C | CA351014084 | GIGYF2 | c.1275A>C (p.Arg425Ser) c.621A>C (p.Arg207Ser) c.756A>C (p.Arg252Ser) c.531A>C (p.Arg177Ser) c.768A>C (p.Arg256Ser) c.1257A>C (p.Arg419Ser) c.1338A>C (p.Arg446Ser) c.1341A>C (p.Arg447Ser) c.1104A>C (p.Arg368Ser) c.*268A>C (n.*268A>C) n.1388A>C | |
2 | g.232791439A>G | CA431808295 | GIGYF2 | c.1275A>G (p.Arg425=) c.621A>G (p.Arg207=) c.756A>G (p.Arg252=) c.531A>G (p.Arg177=) c.768A>G (p.Arg256=) c.1257A>G (p.Arg419=) c.1338A>G (p.Arg446=) c.1341A>G (p.Arg447=) c.1104A>G (p.Arg368=) c.*268A>G (n.*268A>G) n.1388A>G | |
2 | g.232791439A>T | CA351014086 | GIGYF2 | c.1275A>T (p.Arg425Ser) c.621A>T (p.Arg207Ser) c.756A>T (p.Arg252Ser) c.531A>T (p.Arg177Ser) c.768A>T (p.Arg256Ser) c.1257A>T (p.Arg419Ser) c.1338A>T (p.Arg446Ser) c.1341A>T (p.Arg447Ser) c.1104A>T (p.Arg368Ser) c.*268A>T (n.*268A>T) n.1388A>T | gnomAD v4 |
2 | g.232791440G>A | CA351014088 | GIGYF2 | c.1276G>A (p.Gly426Arg) c.622G>A (p.Gly208Arg) c.757G>A (p.Gly253Arg) c.532G>A (p.Gly178Arg) c.769G>A (p.Gly257Arg) c.1258G>A (p.Gly420Arg) c.1339G>A (p.Gly447Arg) c.1342G>A (p.Gly448Arg) c.1105G>A (p.Gly369Arg) c.*269G>A (n.*269G>A) n.1389G>A |