Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27985166_27985172delCA2573053977OCA2c.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
15g.27985172C>ACA391360706OCA2c.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
15g.27985172C=CA2166411187OCA2c.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=
15g.27985172C>GCA391360707OCA2c.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
15g.27985172C>TCA114680OCA2c.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
15g.27985173G>ACA240003OCA2c.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
15g.27985173G>CCA391360708OCA2c.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
15g.27985173G=CA2166411193OCA2c.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=
15g.27985173G>TCA488958939OCA2c.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
15g.27985174G>ACA488958941OCA2c.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
15g.27985174G>CCA488958942OCA2c.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
15g.27985174G>TCA488958940OCA2c.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
15g.27985175G>ACA391360709OCA2c.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
15g.27985175G>CCA391360710OCA2c.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
15g.27985175G=CA2166411198OCA2c.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=
15g.27985175G>TCA267891280OCA2c.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
15g.27985176A>CCA391360711OCA2c.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
15g.27985176A>GCA391360712OCA2c.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
15g.27985176A>TCA391360713OCA2c.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
15g.27985177G>ACA488958944OCA2c.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
15g.27985177G>CCA488958947OCA2c.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
15g.27985177G=CA2166411203OCA2c.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=
15g.27985177G>TCA488958945OCA2c.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
15g.27985178A>CCA391360714OCA2c.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
15g.27985178A>GCA391360715OCA2c.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
15g.27985178A>TCA391360716OCA2c.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
15g.27985179G>ACA391360717OCA2c.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
15g.27985179G>CCA391360718OCA2c.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
15g.27985179G=CA2166411205OCA2c.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=
15g.27985179G>TCA391360719OCA2c.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
15g.27985180C>ACA488958948OCA2c.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
15g.27985180C>GCA488958949OCA2c.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
15g.27985180C>TCA488958950OCA2c.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
15g.27985181dupCA2573320533OCA2c.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
15g.27985181C>ACA391360720OCA2c.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
15g.27985181C=CA2166411208OCA2c.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=
15g.27985181C>GCA391360721OCA2c.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
15g.27985181C>TCA7439103OCA2c.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
15g.27985182G>ACA7439104OCA2c.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
15g.27985182G>CCA391360722OCA2c.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
15g.27985182G=CA2166411212OCA2c.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=
15g.27985182G>TCA488958951OCA2c.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
15g.27985183delCA2695219944OCA2c.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
15g.27985183G>ACA488958952OCA2c.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
15g.27985183G>CCA391360723OCA2c.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
15g.27985183G>TCA391360724OCA2c.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
15g.27985184T>ACA391360725OCA2c.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
15g.27985184T>CCA391360726OCA2c.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
15g.27985184T>GCA391360727OCA2c.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
15g.27985185A=CA2166411214OCA2c.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=

Number of alleles fetched