Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27985166_27985172del | CA2573053977 | OCA2 | c.1258_1264del (p.Gly420CysfsTer4) c.1186_1192del (p.Gly396CysfsTer4) c.1282_1288del (p.Gly428CysfsTer4) c.1210_1216del (p.Gly404CysfsTer4) c.1144_1150del (p.Gly382CysfsTer4) n.2643_2649del c.1087_1093del (p.Gly363CysfsTer4) n.1371_1377del | ClinVar dbSNP |
15 | g.27985172C>A | CA391360706 | OCA2 | c.1256G>T (p.Arg419Leu) c.1184G>T (p.Arg395Leu) c.1280G>T (p.Arg427Leu) c.1208G>T (p.Arg403Leu) c.1142G>T (p.Arg381Leu) n.2641G>T c.1085G>T (p.Arg362Leu) n.1369G>T | |
15 | g.27985172C= | CA2166411187 | OCA2 | c.1256G= (p.Arg419=) c.1184G= (p.Arg395=) c.1280G= (p.Arg427=) c.1208G= (p.Arg403=) c.1142G= (p.Arg381=) n.2641G= c.1085G= (p.Arg362=) n.1369G= | |
15 | g.27985172C>G | CA391360707 | OCA2 | c.1256G>C (p.Arg419Pro) c.1184G>C (p.Arg395Pro) c.1280G>C (p.Arg427Pro) c.1208G>C (p.Arg403Pro) c.1142G>C (p.Arg381Pro) n.2641G>C c.1085G>C (p.Arg362Pro) n.1369G>C | |
15 | g.27985172C>T | CA114680 | OCA2 | c.1256G>A (p.Arg419Gln) c.1184G>A (p.Arg395Gln) c.1280G>A (p.Arg427Gln) c.1208G>A (p.Arg403Gln) c.1142G>A (p.Arg381Gln) n.2641G>A c.1085G>A (p.Arg362Gln) n.1369G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27985173G>A | CA240003 | OCA2 | c.1255C>T (p.Arg419Trp) c.1183C>T (p.Arg395Trp) c.1279C>T (p.Arg427Trp) c.1207C>T (p.Arg403Trp) c.1141C>T (p.Arg381Trp) n.2640C>T c.1084C>T (p.Arg362Trp) n.1368C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27985173G>C | CA391360708 | OCA2 | c.1255C>G (p.Arg419Gly) c.1183C>G (p.Arg395Gly) c.1279C>G (p.Arg427Gly) c.1207C>G (p.Arg403Gly) c.1141C>G (p.Arg381Gly) n.2640C>G c.1084C>G (p.Arg362Gly) n.1368C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.27985173G= | CA2166411193 | OCA2 | c.1255C= (p.Arg419=) c.1183C= (p.Arg395=) c.1279C= (p.Arg427=) c.1207C= (p.Arg403=) c.1141C= (p.Arg381=) n.2640C= c.1084C= (p.Arg362=) n.1368C= | |
15 | g.27985173G>T | CA488958939 | OCA2 | c.1255C>A (p.Arg419=) c.1183C>A (p.Arg395=) c.1279C>A (p.Arg427=) c.1207C>A (p.Arg403=) c.1141C>A (p.Arg381=) n.2640C>A c.1084C>A (p.Arg362=) n.1368C>A | |
15 | g.27985174G>A | CA488958941 | OCA2 | c.1254C>T (p.Ser418=) c.1182C>T (p.Ser394=) c.1278C>T (p.Ser426=) c.1206C>T (p.Ser402=) c.1140C>T (p.Ser380=) n.2639C>T c.1083C>T (p.Ser361=) n.1367C>T | |
15 | g.27985174G>C | CA488958942 | OCA2 | c.1254C>G (p.Ser418=) c.1182C>G (p.Ser394=) c.1278C>G (p.Ser426=) c.1206C>G (p.Ser402=) c.1140C>G (p.Ser380=) n.2639C>G c.1083C>G (p.Ser361=) n.1367C>G | |
15 | g.27985174G>T | CA488958940 | OCA2 | c.1254C>A (p.Ser418=) c.1182C>A (p.Ser394=) c.1278C>A (p.Ser426=) c.1206C>A (p.Ser402=) c.1140C>A (p.Ser380=) n.2639C>A c.1083C>A (p.Ser361=) n.1367C>A | |
15 | g.27985175G>A | CA391360709 | OCA2 | c.1253C>T (p.Ser418Phe) c.1181C>T (p.Ser394Phe) c.1277C>T (p.Ser426Phe) c.1205C>T (p.Ser402Phe) c.1139C>T (p.Ser380Phe) n.2638C>T c.1082C>T (p.Ser361Phe) n.1366C>T | ClinVar |
15 | g.27985175G>C | CA391360710 | OCA2 | c.1253C>G (p.Ser418Cys) c.1181C>G (p.Ser394Cys) c.1277C>G (p.Ser426Cys) c.1205C>G (p.Ser402Cys) c.1139C>G (p.Ser380Cys) n.2638C>G c.1082C>G (p.Ser361Cys) n.1366C>G | |
15 | g.27985175G= | CA2166411198 | OCA2 | c.1253C= (p.Ser418=) c.1181C= (p.Ser394=) c.1277C= (p.Ser426=) c.1205C= (p.Ser402=) c.1139C= (p.Ser380=) n.2638C= c.1082C= (p.Ser361=) n.1366C= | |
15 | g.27985175G>T | CA267891280 | OCA2 | c.1253C>A (p.Ser418Tyr) c.1181C>A (p.Ser394Tyr) c.1277C>A (p.Ser426Tyr) c.1205C>A (p.Ser402Tyr) c.1139C>A (p.Ser380Tyr) n.2638C>A c.1082C>A (p.Ser361Tyr) n.1366C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27985176A>C | CA391360711 | OCA2 | c.1252T>G (p.Ser418Ala) c.1180T>G (p.Ser394Ala) c.1276T>G (p.Ser426Ala) c.1204T>G (p.Ser402Ala) c.1138T>G (p.Ser380Ala) n.2637T>G c.1081T>G (p.Ser361Ala) n.1365T>G | |
15 | g.27985176A>G | CA391360712 | OCA2 | c.1252T>C (p.Ser418Pro) c.1180T>C (p.Ser394Pro) c.1276T>C (p.Ser426Pro) c.1204T>C (p.Ser402Pro) c.1138T>C (p.Ser380Pro) n.2637T>C c.1081T>C (p.Ser361Pro) n.1365T>C | |
15 | g.27985176A>T | CA391360713 | OCA2 | c.1252T>A (p.Ser418Thr) c.1180T>A (p.Ser394Thr) c.1276T>A (p.Ser426Thr) c.1204T>A (p.Ser402Thr) c.1138T>A (p.Ser380Thr) n.2637T>A c.1081T>A (p.Ser361Thr) n.1365T>A | |
15 | g.27985177G>A | CA488958944 | OCA2 | c.1251C>T (p.Leu417=) c.1179C>T (p.Leu393=) c.1275C>T (p.Leu425=) c.1203C>T (p.Leu401=) c.1137C>T (p.Leu379=) n.2636C>T c.1080C>T (p.Leu360=) n.1364C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27985177G>C | CA488958947 | OCA2 | c.1251C>G (p.Leu417=) c.1179C>G (p.Leu393=) c.1275C>G (p.Leu425=) c.1203C>G (p.Leu401=) c.1137C>G (p.Leu379=) n.2636C>G c.1080C>G (p.Leu360=) n.1364C>G | |
15 | g.27985177G= | CA2166411203 | OCA2 | c.1251C= (p.Leu417=) c.1179C= (p.Leu393=) c.1275C= (p.Leu425=) c.1203C= (p.Leu401=) c.1137C= (p.Leu379=) n.2636C= c.1080C= (p.Leu360=) n.1364C= | |
15 | g.27985177G>T | CA488958945 | OCA2 | c.1251C>A (p.Leu417=) c.1179C>A (p.Leu393=) c.1275C>A (p.Leu425=) c.1203C>A (p.Leu401=) c.1137C>A (p.Leu379=) n.2636C>A c.1080C>A (p.Leu360=) n.1364C>A | |
15 | g.27985178A>C | CA391360714 | OCA2 | c.1250T>G (p.Leu417Arg) c.1178T>G (p.Leu393Arg) c.1274T>G (p.Leu425Arg) c.1202T>G (p.Leu401Arg) c.1136T>G (p.Leu379Arg) n.2635T>G c.1079T>G (p.Leu360Arg) n.1363T>G | |
15 | g.27985178A>G | CA391360715 | OCA2 | c.1250T>C (p.Leu417Pro) c.1178T>C (p.Leu393Pro) c.1274T>C (p.Leu425Pro) c.1202T>C (p.Leu401Pro) c.1136T>C (p.Leu379Pro) n.2635T>C c.1079T>C (p.Leu360Pro) n.1363T>C | gnomAD v4 |
15 | g.27985178A>T | CA391360716 | OCA2 | c.1250T>A (p.Leu417His) c.1178T>A (p.Leu393His) c.1274T>A (p.Leu425His) c.1202T>A (p.Leu401His) c.1136T>A (p.Leu379His) n.2635T>A c.1079T>A (p.Leu360His) n.1363T>A | |
15 | g.27985179G>A | CA391360717 | OCA2 | c.1249C>T (p.Leu417Phe) c.1177C>T (p.Leu393Phe) c.1273C>T (p.Leu425Phe) c.1201C>T (p.Leu401Phe) c.1135C>T (p.Leu379Phe) n.2634C>T c.1078C>T (p.Leu360Phe) n.1362C>T | |
15 | g.27985179G>C | CA391360718 | OCA2 | c.1249C>G (p.Leu417Val) c.1177C>G (p.Leu393Val) c.1273C>G (p.Leu425Val) c.1201C>G (p.Leu401Val) c.1135C>G (p.Leu379Val) n.2634C>G c.1078C>G (p.Leu360Val) n.1362C>G | |
15 | g.27985179G= | CA2166411205 | OCA2 | c.1249C= (p.Leu417=) c.1177C= (p.Leu393=) c.1273C= (p.Leu425=) c.1201C= (p.Leu401=) c.1135C= (p.Leu379=) n.2634C= c.1078C= (p.Leu360=) n.1362C= | |
15 | g.27985179G>T | CA391360719 | OCA2 | c.1249C>A (p.Leu417Ile) c.1177C>A (p.Leu393Ile) c.1273C>A (p.Leu425Ile) c.1201C>A (p.Leu401Ile) c.1135C>A (p.Leu379Ile) n.2634C>A c.1078C>A (p.Leu360Ile) n.1362C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27985180C>A | CA488958948 | OCA2 | c.1248G>T (p.Arg416=) c.1176G>T (p.Arg392=) c.1272G>T (p.Arg424=) c.1200G>T (p.Arg400=) c.1134G>T (p.Arg378=) n.2633G>T c.1077G>T (p.Arg359=) n.1361G>T | |
15 | g.27985180C>G | CA488958949 | OCA2 | c.1248G>C (p.Arg416=) c.1176G>C (p.Arg392=) c.1272G>C (p.Arg424=) c.1200G>C (p.Arg400=) c.1134G>C (p.Arg378=) n.2633G>C c.1077G>C (p.Arg359=) n.1361G>C | |
15 | g.27985180C>T | CA488958950 | OCA2 | c.1248G>A (p.Arg416=) c.1176G>A (p.Arg392=) c.1272G>A (p.Arg424=) c.1200G>A (p.Arg400=) c.1134G>A (p.Arg378=) n.2633G>A c.1077G>A (p.Arg359=) n.1361G>A | COSMIC COSMIC |
15 | g.27985181dup | CA2573320533 | OCA2 | c.1248dup (p.Leu417AlafsTer?) c.1176dup (p.Leu393AlafsTer?) c.1272dup (p.Leu425AlafsTer?) c.1200dup (p.Leu401AlafsTer?) c.1134dup (p.Leu379AlafsTer?) n.2633dup c.1077dup (p.Leu360AlafsTer?) n.1361dup | ClinVar |
15 | g.27985181C>A | CA391360720 | OCA2 | c.1247G>T (p.Arg416Leu) c.1175G>T (p.Arg392Leu) c.1271G>T (p.Arg424Leu) c.1199G>T (p.Arg400Leu) c.1133G>T (p.Arg378Leu) n.2632G>T c.1076G>T (p.Arg359Leu) n.1360G>T | |
15 | g.27985181C= | CA2166411208 | OCA2 | c.1247G= (p.Arg416=) c.1175G= (p.Arg392=) c.1271G= (p.Arg424=) c.1199G= (p.Arg400=) c.1133G= (p.Arg378=) n.2632G= c.1076G= (p.Arg359=) n.1360G= | |
15 | g.27985181C>G | CA391360721 | OCA2 | c.1247G>C (p.Arg416Pro) c.1175G>C (p.Arg392Pro) c.1271G>C (p.Arg424Pro) c.1199G>C (p.Arg400Pro) c.1133G>C (p.Arg378Pro) n.2632G>C c.1076G>C (p.Arg359Pro) n.1360G>C | ClinVar dbSNP gnomAD v4 |
15 | g.27985181C>T | CA7439103 | OCA2 | c.1247G>A (p.Arg416Gln) c.1175G>A (p.Arg392Gln) c.1271G>A (p.Arg424Gln) c.1199G>A (p.Arg400Gln) c.1133G>A (p.Arg378Gln) n.2632G>A c.1076G>A (p.Arg359Gln) n.1360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27985182G>A | CA7439104 | OCA2 | c.1246C>T (p.Arg416Trp) c.1174C>T (p.Arg392Trp) c.1270C>T (p.Arg424Trp) c.1198C>T (p.Arg400Trp) c.1132C>T (p.Arg378Trp) n.2631C>T c.1075C>T (p.Arg359Trp) n.1359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27985182G>C | CA391360722 | OCA2 | c.1246C>G (p.Arg416Gly) c.1174C>G (p.Arg392Gly) c.1270C>G (p.Arg424Gly) c.1198C>G (p.Arg400Gly) c.1132C>G (p.Arg378Gly) n.2631C>G c.1075C>G (p.Arg359Gly) n.1359C>G | COSMIC COSMIC |
15 | g.27985182G= | CA2166411212 | OCA2 | c.1246C= (p.Arg416=) c.1174C= (p.Arg392=) c.1270C= (p.Arg424=) c.1198C= (p.Arg400=) c.1132C= (p.Arg378=) n.2631C= c.1075C= (p.Arg359=) n.1359C= | |
15 | g.27985182G>T | CA488958951 | OCA2 | c.1246C>A (p.Arg416=) c.1174C>A (p.Arg392=) c.1270C>A (p.Arg424=) c.1198C>A (p.Arg400=) c.1132C>A (p.Arg378=) n.2631C>A c.1075C>A (p.Arg359=) n.1359C>A | |
15 | g.27985183del | CA2695219944 | OCA2 | c.1246del (p.Arg416GlyfsTer10) c.1174del (p.Arg392GlyfsTer10) c.1270del (p.Arg424GlyfsTer10) c.1198del (p.Arg400GlyfsTer10) c.1132del (p.Arg378GlyfsTer10) n.2631del c.1075del (p.Arg359GlyfsTer10) n.1359del | |
15 | g.27985183G>A | CA488958952 | OCA2 | c.1245C>T (p.Tyr415=) c.1173C>T (p.Tyr391=) c.1269C>T (p.Tyr423=) c.1197C>T (p.Tyr399=) c.1131C>T (p.Tyr377=) n.2630C>T c.1074C>T (p.Tyr358=) n.1358C>T | |
15 | g.27985183G>C | CA391360723 | OCA2 | c.1245C>G (p.Tyr415Ter) c.1173C>G (p.Tyr391Ter) c.1269C>G (p.Tyr423Ter) c.1197C>G (p.Tyr399Ter) c.1131C>G (p.Tyr377Ter) n.2630C>G c.1074C>G (p.Tyr358Ter) n.1358C>G | gnomAD v4 |
15 | g.27985183G>T | CA391360724 | OCA2 | c.1245C>A (p.Tyr415Ter) c.1173C>A (p.Tyr391Ter) c.1269C>A (p.Tyr423Ter) c.1197C>A (p.Tyr399Ter) c.1131C>A (p.Tyr377Ter) n.2630C>A c.1074C>A (p.Tyr358Ter) n.1358C>A | |
15 | g.27985184T>A | CA391360725 | OCA2 | c.1244A>T (p.Tyr415Phe) c.1172A>T (p.Tyr391Phe) c.1268A>T (p.Tyr423Phe) c.1196A>T (p.Tyr399Phe) c.1130A>T (p.Tyr377Phe) n.2629A>T c.1073A>T (p.Tyr358Phe) n.1357A>T | |
15 | g.27985184T>C | CA391360726 | OCA2 | c.1244A>G (p.Tyr415Cys) c.1172A>G (p.Tyr391Cys) c.1268A>G (p.Tyr423Cys) c.1196A>G (p.Tyr399Cys) c.1130A>G (p.Tyr377Cys) n.2629A>G c.1073A>G (p.Tyr358Cys) n.1357A>G | |
15 | g.27985184T>G | CA391360727 | OCA2 | c.1244A>C (p.Tyr415Ser) c.1172A>C (p.Tyr391Ser) c.1268A>C (p.Tyr423Ser) c.1196A>C (p.Tyr399Ser) c.1130A>C (p.Tyr377Ser) n.2629A>C c.1073A>C (p.Tyr358Ser) n.1357A>C | |
15 | g.27985185A= | CA2166411214 | OCA2 | c.1243T= (p.Tyr415=) c.1171T= (p.Tyr391=) c.1267T= (p.Tyr423=) c.1195T= (p.Tyr399=) c.1129T= (p.Tyr377=) n.2628T= c.1072T= (p.Tyr358=) n.1356T= |