Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27983335T>C | CA2166409887 | OCA2 | c.1503+10A>G (n.1503+10A>G) c.1431+10A>G (n.1431+10A>G) c.1527+10A>G (n.1527+10A>G) c.1455+10A>G (n.1455+10A>G) c.1389+10A>G (n.1389+10A>G) n.2888+10A>G c.1332+10A>G (n.1332+10A>G) n.1616+10A>G | dbSNP |
15 | g.27983335T= | CA2166409886 | OCA2 | c.1503+10A= (n.1503+10A=) c.1431+10A= (n.1431+10A=) c.1527+10A= (n.1527+10A=) c.1455+10A= (n.1455+10A=) c.1389+10A= (n.1389+10A=) n.2888+10A= c.1332+10A= (n.1332+10A=) n.1616+10A= | |
15 | g.27983336G>C | CA2627359126 | OCA2 | c.1503+9C>G (n.1503+9C>G) c.1431+9C>G (n.1431+9C>G) c.1527+9C>G (n.1527+9C>G) c.1455+9C>G (n.1455+9C>G) c.1389+9C>G (n.1389+9C>G) n.2888+9C>G c.1332+9C>G (n.1332+9C>G) n.1616+9C>G | gnomAD v4 |
15 | g.27983336G= | CA2166409888 | OCA2 | c.1503+9C= (n.1503+9C=) c.1431+9C= (n.1431+9C=) c.1527+9C= (n.1527+9C=) c.1455+9C= (n.1455+9C=) c.1389+9C= (n.1389+9C=) n.2888+9C= c.1332+9C= (n.1332+9C=) n.1616+9C= | |
15 | g.27983336G>T | CA267890205 | OCA2 | c.1503+9C>A (n.1503+9C>A) c.1431+9C>A (n.1431+9C>A) c.1527+9C>A (n.1527+9C>A) c.1455+9C>A (n.1455+9C>A) c.1389+9C>A (n.1389+9C>A) n.2888+9C>A c.1332+9C>A (n.1332+9C>A) n.1616+9C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983337G>A | CA2627359128 | OCA2 | c.1503+8C>T (n.1503+8C>T) c.1431+8C>T (n.1431+8C>T) c.1527+8C>T (n.1527+8C>T) c.1455+8C>T (n.1455+8C>T) c.1389+8C>T (n.1389+8C>T) n.2888+8C>T c.1332+8C>T (n.1332+8C>T) n.1616+8C>T | gnomAD v4 |
15 | g.27983338T>A | CA7439022 | OCA2 | c.1503+7A>T (n.1503+7A>T) c.1431+7A>T (n.1431+7A>T) c.1527+7A>T (n.1527+7A>T) c.1455+7A>T (n.1455+7A>T) c.1389+7A>T (n.1389+7A>T) n.2888+7A>T c.1332+7A>T (n.1332+7A>T) n.1616+7A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983338T= | CA2166409889 | OCA2 | c.1503+7A= (n.1503+7A=) c.1431+7A= (n.1431+7A=) c.1527+7A= (n.1527+7A=) c.1455+7A= (n.1455+7A=) c.1389+7A= (n.1389+7A=) n.2888+7A= c.1332+7A= (n.1332+7A=) n.1616+7A= | |
15 | g.27983340C>A | CA2627359134 | OCA2 | c.1503+5G>T (n.1503+5G>T) c.1431+5G>T (n.1431+5G>T) c.1527+5G>T (n.1527+5G>T) c.1455+5G>T (n.1455+5G>T) c.1389+5G>T (n.1389+5G>T) n.2888+5G>T c.1332+5G>T (n.1332+5G>T) n.1616+5G>T | gnomAD v4 |
15 | g.27983340C= | CA2166409891 | OCA2 | c.1503+5G= (n.1503+5G=) c.1431+5G= (n.1431+5G=) c.1527+5G= (n.1527+5G=) c.1455+5G= (n.1455+5G=) c.1389+5G= (n.1389+5G=) n.2888+5G= c.1332+5G= (n.1332+5G=) n.1616+5G= | |
15 | g.27983340C>T | CA277168 | OCA2 | c.1503+5G>A (n.1503+5G>A) c.1431+5G>A (n.1431+5G>A) c.1527+5G>A (n.1527+5G>A) c.1455+5G>A (n.1455+5G>A) c.1389+5G>A (n.1389+5G>A) n.2888+5G>A c.1332+5G>A (n.1332+5G>A) n.1616+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983341G>A | CA7439023 | OCA2 | c.1503+4C>T (n.1503+4C>T) c.1431+4C>T (n.1431+4C>T) c.1527+4C>T (n.1527+4C>T) c.1455+4C>T (n.1455+4C>T) c.1389+4C>T (n.1389+4C>T) n.2888+4C>T c.1332+4C>T (n.1332+4C>T) n.1616+4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27983341G= | CA2166409893 | OCA2 | c.1503+4C= (n.1503+4C=) c.1431+4C= (n.1431+4C=) c.1527+4C= (n.1527+4C=) c.1455+4C= (n.1455+4C=) c.1389+4C= (n.1389+4C=) n.2888+4C= c.1332+4C= (n.1332+4C=) n.1616+4C= | |
15 | g.27983343A>C | CA391359139 | OCA2 | c.1503+2T>G (n.1503+2T>G) c.1431+2T>G (n.1431+2T>G) c.1527+2T>G (n.1527+2T>G) c.1455+2T>G (n.1455+2T>G) c.1389+2T>G (n.1389+2T>G) n.2888+2T>G c.1332+2T>G (n.1332+2T>G) n.1616+2T>G | |
15 | g.27983343A>G | CA391359140 | OCA2 | c.1503+2T>C (n.1503+2T>C) c.1431+2T>C (n.1431+2T>C) c.1527+2T>C (n.1527+2T>C) c.1455+2T>C (n.1455+2T>C) c.1389+2T>C (n.1389+2T>C) n.2888+2T>C c.1332+2T>C (n.1332+2T>C) n.1616+2T>C | gnomAD v4 |
15 | g.27983343A>T | CA391359141 | OCA2 | c.1503+2T>A (n.1503+2T>A) c.1431+2T>A (n.1431+2T>A) c.1527+2T>A (n.1527+2T>A) c.1455+2T>A (n.1455+2T>A) c.1389+2T>A (n.1389+2T>A) n.2888+2T>A c.1332+2T>A (n.1332+2T>A) n.1616+2T>A | |
15 | g.27983344C>A | CA391359147 | OCA2 | c.1503+1G>T (n.1503+1G>T) c.1431+1G>T (n.1431+1G>T) c.1527+1G>T (n.1527+1G>T) c.1455+1G>T (n.1455+1G>T) c.1389+1G>T (n.1389+1G>T) n.2888+1G>T c.1332+1G>T (n.1332+1G>T) n.1616+1G>T | |
15 | g.27983344C= | CA2166409900 | OCA2 | c.1503+1G= (n.1503+1G=) c.1431+1G= (n.1431+1G=) c.1527+1G= (n.1527+1G=) c.1455+1G= (n.1455+1G=) c.1389+1G= (n.1389+1G=) n.2888+1G= c.1332+1G= (n.1332+1G=) n.1616+1G= | |
15 | g.27983344C>G | CA391359143 | OCA2 | c.1503+1G>C (n.1503+1G>C) c.1431+1G>C (n.1431+1G>C) c.1527+1G>C (n.1527+1G>C) c.1455+1G>C (n.1455+1G>C) c.1389+1G>C (n.1389+1G>C) n.2888+1G>C c.1332+1G>C (n.1332+1G>C) n.1616+1G>C | |
15 | g.27983344C>T | CA391359145 | OCA2 | c.1503+1G>A (n.1503+1G>A) c.1431+1G>A (n.1431+1G>A) c.1527+1G>A (n.1527+1G>A) c.1455+1G>A (n.1455+1G>A) c.1389+1G>A (n.1389+1G>A) n.2888+1G>A c.1332+1G>A (n.1332+1G>A) n.1616+1G>A | ClinVar dbSNP |
15 | g.27983345C>A | CA391359151 | OCA2 | c.1503G>T (p.Met501Ile) c.1431G>T (p.Met477Ile) c.1527G>T (p.Met509Ile) c.1455G>T (p.Met485Ile) c.1389G>T (p.Met463Ile) n.2888G>T c.1332G>T (p.Met444Ile) n.1616G>T | |
15 | g.27983345C>G | CA391359153 | OCA2 | c.1503G>C (p.Met501Ile) c.1431G>C (p.Met477Ile) c.1527G>C (p.Met509Ile) c.1455G>C (p.Met485Ile) c.1389G>C (p.Met463Ile) n.2888G>C c.1332G>C (p.Met444Ile) n.1616G>C | |
15 | g.27983345C>T | CA391359155 | OCA2 | c.1503G>A (p.Met501Ile) c.1431G>A (p.Met477Ile) c.1527G>A (p.Met509Ile) c.1455G>A (p.Met485Ile) c.1389G>A (p.Met463Ile) n.2888G>A c.1332G>A (p.Met444Ile) n.1616G>A | COSMIC COSMIC |
15 | g.27983346A= | CA2166409903 | OCA2 | c.1502T= (p.Met501=) c.1430T= (p.Met477=) c.1526T= (p.Met509=) c.1454T= (p.Met485=) c.1388T= (p.Met463=) n.2887T= c.1331T= (p.Met444=) n.1615T= | |
15 | g.27983346A>C | CA391359156 | OCA2 | c.1502T>G (p.Met501Arg) c.1430T>G (p.Met477Arg) c.1526T>G (p.Met509Arg) c.1454T>G (p.Met485Arg) c.1388T>G (p.Met463Arg) n.2887T>G c.1331T>G (p.Met444Arg) n.1615T>G | |
15 | g.27983346A>G | CA391359157 | OCA2 | c.1502T>C (p.Met501Thr) c.1430T>C (p.Met477Thr) c.1526T>C (p.Met509Thr) c.1454T>C (p.Met485Thr) c.1388T>C (p.Met463Thr) n.2887T>C c.1331T>C (p.Met444Thr) n.1615T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27983346A>T | CA391359158 | OCA2 | c.1502T>A (p.Met501Lys) c.1430T>A (p.Met477Lys) c.1526T>A (p.Met509Lys) c.1454T>A (p.Met485Lys) c.1388T>A (p.Met463Lys) n.2887T>A c.1331T>A (p.Met444Lys) n.1615T>A | |
15 | g.27983346_27983347insGC | CA2739277912 | OCA2 | c.1501_1502insGC (p.Met501SerfsTer?) c.1429_1430insGC (p.Met477SerfsTer?) c.1525_1526insGC (p.Met509SerfsTer?) c.1453_1454insGC (p.Met485SerfsTer?) c.1387_1388insGC (p.Met463SerfsTer?) n.2886_2887insGC c.1330_1331insGC (p.Met444SerfsTer?) n.1614_1615insGC | ClinVar |
15 | g.27983347T>A | CA391359159 | OCA2 | c.1501A>T (p.Met501Leu) c.1429A>T (p.Met477Leu) c.1525A>T (p.Met509Leu) c.1453A>T (p.Met485Leu) c.1387A>T (p.Met463Leu) n.2886A>T c.1330A>T (p.Met444Leu) n.1614A>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.27983347T>C | CA391359163 | OCA2 | c.1501A>G (p.Met501Val) c.1429A>G (p.Met477Val) c.1525A>G (p.Met509Val) c.1453A>G (p.Met485Val) c.1387A>G (p.Met463Val) n.2886A>G c.1330A>G (p.Met444Val) n.1614A>G | |
15 | g.27983347T>G | CA391359164 | OCA2 | c.1501A>C (p.Met501Leu) c.1429A>C (p.Met477Leu) c.1525A>C (p.Met509Leu) c.1453A>C (p.Met485Leu) c.1387A>C (p.Met463Leu) n.2886A>C c.1330A>C (p.Met444Leu) n.1614A>C | |
15 | g.27983347T= | CA2166409906 | OCA2 | c.1501A= (p.Met501=) c.1429A= (p.Met477=) c.1525A= (p.Met509=) c.1453A= (p.Met485=) c.1387A= (p.Met463=) n.2886A= c.1330A= (p.Met444=) n.1614A= | |
15 | g.27983348C>A | CA391359165 | OCA2 | c.1500G>T (p.Lys500Asn) c.1428G>T (p.Lys476Asn) c.1524G>T (p.Lys508Asn) c.1452G>T (p.Lys484Asn) c.1386G>T (p.Lys462Asn) n.2885G>T c.1329G>T (p.Lys443Asn) n.1613G>T | |
15 | g.27983348C>G | CA391359166 | OCA2 | c.1500G>C (p.Lys500Asn) c.1428G>C (p.Lys476Asn) c.1524G>C (p.Lys508Asn) c.1452G>C (p.Lys484Asn) c.1386G>C (p.Lys462Asn) n.2885G>C c.1329G>C (p.Lys443Asn) n.1613G>C | |
15 | g.27983348C>T | CA488958640 | OCA2 | c.1500G>A (p.Lys500=) c.1428G>A (p.Lys476=) c.1524G>A (p.Lys508=) c.1452G>A (p.Lys484=) c.1386G>A (p.Lys462=) n.2885G>A c.1329G>A (p.Lys443=) n.1613G>A | |
15 | g.27983349T>A | CA391359172 | OCA2 | c.1499A>T (p.Lys500Met) c.1427A>T (p.Lys476Met) c.1523A>T (p.Lys508Met) c.1451A>T (p.Lys484Met) c.1385A>T (p.Lys462Met) n.2884A>T c.1328A>T (p.Lys443Met) n.1612A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27983349T>C | CA391359170 | OCA2 | c.1499A>G (p.Lys500Arg) c.1427A>G (p.Lys476Arg) c.1523A>G (p.Lys508Arg) c.1451A>G (p.Lys484Arg) c.1385A>G (p.Lys462Arg) n.2884A>G c.1328A>G (p.Lys443Arg) n.1612A>G | |
15 | g.27983349T>G | CA391359168 | OCA2 | c.1499A>C (p.Lys500Thr) c.1427A>C (p.Lys476Thr) c.1523A>C (p.Lys508Thr) c.1451A>C (p.Lys484Thr) c.1385A>C (p.Lys462Thr) n.2884A>C c.1328A>C (p.Lys443Thr) n.1612A>C | |
15 | g.27983349T= | CA2166409911 | OCA2 | c.1499A= (p.Lys500=) c.1427A= (p.Lys476=) c.1523A= (p.Lys508=) c.1451A= (p.Lys484=) c.1385A= (p.Lys462=) n.2884A= c.1328A= (p.Lys443=) n.1612A= | |
15 | g.27983350T>A | CA391359173 | OCA2 | c.1498A>T (p.Lys500Ter) c.1426A>T (p.Lys476Ter) c.1522A>T (p.Lys508Ter) c.1450A>T (p.Lys484Ter) c.1384A>T (p.Lys462Ter) n.2883A>T c.1327A>T (p.Lys443Ter) n.1611A>T | |
15 | g.27983350T>C | CA391359174 | OCA2 | c.1498A>G (p.Lys500Glu) c.1426A>G (p.Lys476Glu) c.1522A>G (p.Lys508Glu) c.1450A>G (p.Lys484Glu) c.1384A>G (p.Lys462Glu) n.2883A>G c.1327A>G (p.Lys443Glu) n.1611A>G | |
15 | g.27983350T>G | CA267890225 | OCA2 | c.1498A>C (p.Lys500Gln) c.1426A>C (p.Lys476Gln) c.1522A>C (p.Lys508Gln) c.1450A>C (p.Lys484Gln) c.1384A>C (p.Lys462Gln) n.2883A>C c.1327A>C (p.Lys443Gln) n.1611A>C | dbSNP |
15 | g.27983350T= | CA2166409914 | OCA2 | c.1498A= (p.Lys500=) c.1426A= (p.Lys476=) c.1522A= (p.Lys508=) c.1450A= (p.Lys484=) c.1384A= (p.Lys462=) n.2883A= c.1327A= (p.Lys443=) n.1611A= | |
15 | g.27983351C>A | CA391359175 | OCA2 | c.1497G>T (p.Arg499Ser) c.1425G>T (p.Arg475Ser) c.1521G>T (p.Arg507Ser) c.1449G>T (p.Arg483Ser) c.1383G>T (p.Arg461Ser) n.2882G>T c.1326G>T (p.Arg442Ser) n.1610G>T | |
15 | g.27983351C>G | CA391359177 | OCA2 | c.1497G>C (p.Arg499Ser) c.1425G>C (p.Arg475Ser) c.1521G>C (p.Arg507Ser) c.1449G>C (p.Arg483Ser) c.1383G>C (p.Arg461Ser) n.2882G>C c.1326G>C (p.Arg442Ser) n.1610G>C | gnomAD v4 COSMIC COSMIC |
15 | g.27983351C>T | CA488958641 | OCA2 | c.1497G>A (p.Arg499=) c.1425G>A (p.Arg475=) c.1521G>A (p.Arg507=) c.1449G>A (p.Arg483=) c.1383G>A (p.Arg461=) n.2882G>A c.1326G>A (p.Arg442=) n.1610G>A | |
15 | g.27983352C>A | CA7439024 | OCA2 | c.1496G>T (p.Arg499Met) c.1424G>T (p.Arg475Met) c.1520G>T (p.Arg507Met) c.1448G>T (p.Arg483Met) c.1382G>T (p.Arg461Met) n.2881G>T c.1325G>T (p.Arg442Met) n.1609G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983352C= | CA2166409917 | OCA2 | c.1496G= (p.Arg499=) c.1424G= (p.Arg475=) c.1520G= (p.Arg507=) c.1448G= (p.Arg483=) c.1382G= (p.Arg461=) n.2881G= c.1325G= (p.Arg442=) n.1609G= | |
15 | g.27983352C>G | CA391359181 | OCA2 | c.1496G>C (p.Arg499Thr) c.1424G>C (p.Arg475Thr) c.1520G>C (p.Arg507Thr) c.1448G>C (p.Arg483Thr) c.1382G>C (p.Arg461Thr) n.2881G>C c.1325G>C (p.Arg442Thr) n.1609G>C | |
15 | g.27983352C>T | CA391359183 | OCA2 | c.1496G>A (p.Arg499Lys) c.1424G>A (p.Arg475Lys) c.1520G>A (p.Arg507Lys) c.1448G>A (p.Arg483Lys) c.1382G>A (p.Arg461Lys) n.2881G>A c.1325G>A (p.Arg442Lys) n.1609G>A | |
15 | g.27983353T>A | CA391359185 | OCA2 | c.1495A>T (p.Arg499Trp) c.1423A>T (p.Arg475Trp) c.1519A>T (p.Arg507Trp) c.1447A>T (p.Arg483Trp) c.1381A>T (p.Arg461Trp) n.2880A>T c.1324A>T (p.Arg442Trp) n.1608A>T | |
15 | g.27983353T>C | CA391359186 | OCA2 | c.1495A>G (p.Arg499Gly) c.1423A>G (p.Arg475Gly) c.1519A>G (p.Arg507Gly) c.1447A>G (p.Arg483Gly) c.1381A>G (p.Arg461Gly) n.2880A>G c.1324A>G (p.Arg442Gly) n.1608A>G | |
15 | g.27983353T>G | CA488958642 | OCA2 | c.1495A>C (p.Arg499=) c.1423A>C (p.Arg475=) c.1519A>C (p.Arg507=) c.1447A>C (p.Arg483=) c.1381A>C (p.Arg461=) n.2880A>C c.1324A>C (p.Arg442=) n.1608A>C | |
15 | g.27983354C>A | CA488958643 | OCA2 | c.1494G>T (p.Leu498=) c.1422G>T (p.Leu474=) c.1518G>T (p.Leu506=) c.1446G>T (p.Leu482=) c.1380G>T (p.Leu460=) n.2879G>T c.1323G>T (p.Leu441=) n.1607G>T | |
15 | g.27983354C>G | CA488958644 | OCA2 | c.1494G>C (p.Leu498=) c.1422G>C (p.Leu474=) c.1518G>C (p.Leu506=) c.1446G>C (p.Leu482=) c.1380G>C (p.Leu460=) n.2879G>C c.1323G>C (p.Leu441=) n.1607G>C | |
15 | g.27983354C>T | CA488958645 | OCA2 | c.1494G>A (p.Leu498=) c.1422G>A (p.Leu474=) c.1518G>A (p.Leu506=) c.1446G>A (p.Leu482=) c.1380G>A (p.Leu460=) n.2879G>A c.1323G>A (p.Leu441=) n.1607G>A | COSMIC COSMIC |
15 | g.27983355A>C | CA391359188 | OCA2 | c.1493T>G (p.Leu498Arg) c.1421T>G (p.Leu474Arg) c.1517T>G (p.Leu506Arg) c.1445T>G (p.Leu482Arg) c.1379T>G (p.Leu460Arg) n.2878T>G c.1322T>G (p.Leu441Arg) n.1606T>G | |
15 | g.27983355A>G | CA391359191 | OCA2 | c.1493T>C (p.Leu498Pro) c.1421T>C (p.Leu474Pro) c.1517T>C (p.Leu506Pro) c.1445T>C (p.Leu482Pro) c.1379T>C (p.Leu460Pro) n.2878T>C c.1322T>C (p.Leu441Pro) n.1606T>C | |
15 | g.27983355A>T | CA391359194 | OCA2 | c.1493T>A (p.Leu498Gln) c.1421T>A (p.Leu474Gln) c.1517T>A (p.Leu506Gln) c.1445T>A (p.Leu482Gln) c.1379T>A (p.Leu460Gln) n.2878T>A c.1322T>A (p.Leu441Gln) n.1606T>A | |
15 | g.27983356G>A | CA488958646 | OCA2 | c.1492C>T (p.Leu498=) c.1420C>T (p.Leu474=) c.1516C>T (p.Leu506=) c.1444C>T (p.Leu482=) c.1378C>T (p.Leu460=) n.2877C>T c.1321C>T (p.Leu441=) n.1605C>T | |
15 | g.27983356G>C | CA391359198 | OCA2 | c.1492C>G (p.Leu498Val) c.1420C>G (p.Leu474Val) c.1516C>G (p.Leu506Val) c.1444C>G (p.Leu482Val) c.1378C>G (p.Leu460Val) n.2877C>G c.1321C>G (p.Leu441Val) n.1605C>G | |
15 | g.27983356G>T | CA391359197 | OCA2 | c.1492C>A (p.Leu498Met) c.1420C>A (p.Leu474Met) c.1516C>A (p.Leu506Met) c.1444C>A (p.Leu482Met) c.1378C>A (p.Leu460Met) n.2877C>A c.1321C>A (p.Leu441Met) n.1605C>A | COSMIC |
15 | g.27983357C>A | CA391359200 | OCA2 | c.1491G>T (p.Glu497Asp) c.1419G>T (p.Glu473Asp) c.1515G>T (p.Glu505Asp) c.1443G>T (p.Glu481Asp) c.1377G>T (p.Glu459Asp) n.2876G>T c.1320G>T (p.Glu440Asp) n.1604G>T | |
15 | g.27983357C= | CA2166409922 | OCA2 | c.1491G= (p.Glu497=) c.1419G= (p.Glu473=) c.1515G= (p.Glu505=) c.1443G= (p.Glu481=) c.1377G= (p.Glu459=) n.2876G= c.1320G= (p.Glu440=) n.1604G= | |
15 | g.27983357C>G | CA7439025 | OCA2 | c.1491G>C (p.Glu497Asp) c.1419G>C (p.Glu473Asp) c.1515G>C (p.Glu505Asp) c.1443G>C (p.Glu481Asp) c.1377G>C (p.Glu459Asp) n.2876G>C c.1320G>C (p.Glu440Asp) n.1604G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983357C>T | CA488958647 | OCA2 | c.1491G>A (p.Glu497=) c.1419G>A (p.Glu473=) c.1515G>A (p.Glu505=) c.1443G>A (p.Glu481=) c.1377G>A (p.Glu459=) n.2876G>A c.1320G>A (p.Glu440=) n.1604G>A | |
15 | g.27983358T>A | CA391359204 | OCA2 | c.1490A>T (p.Glu497Val) c.1418A>T (p.Glu473Val) c.1514A>T (p.Glu505Val) c.1442A>T (p.Glu481Val) c.1376A>T (p.Glu459Val) n.2875A>T c.1319A>T (p.Glu440Val) n.1603A>T | |
15 | g.27983358T>C | CA391359207 | OCA2 | c.1490A>G (p.Glu497Gly) c.1418A>G (p.Glu473Gly) c.1514A>G (p.Glu505Gly) c.1442A>G (p.Glu481Gly) c.1376A>G (p.Glu459Gly) n.2875A>G c.1319A>G (p.Glu440Gly) n.1603A>G | |
15 | g.27983358T>G | CA391359209 | OCA2 | c.1490A>C (p.Glu497Ala) c.1418A>C (p.Glu473Ala) c.1514A>C (p.Glu505Ala) c.1442A>C (p.Glu481Ala) c.1376A>C (p.Glu459Ala) n.2875A>C c.1319A>C (p.Glu440Ala) n.1603A>C | |
15 | g.27983359C>A | CA391359212 | OCA2 | c.1489G>T (p.Glu497Ter) c.1417G>T (p.Glu473Ter) c.1513G>T (p.Glu505Ter) c.1441G>T (p.Glu481Ter) c.1375G>T (p.Glu459Ter) n.2874G>T c.1318G>T (p.Glu440Ter) n.1602G>T | |
15 | g.27983359C>G | CA391359214 | OCA2 | c.1489G>C (p.Glu497Gln) c.1417G>C (p.Glu473Gln) c.1513G>C (p.Glu505Gln) c.1441G>C (p.Glu481Gln) c.1375G>C (p.Glu459Gln) n.2874G>C c.1318G>C (p.Glu440Gln) n.1602G>C | |
15 | g.27983359C>T | CA391359216 | OCA2 | c.1489G>A (p.Glu497Lys) c.1417G>A (p.Glu473Lys) c.1513G>A (p.Glu505Lys) c.1441G>A (p.Glu481Lys) c.1375G>A (p.Glu459Lys) n.2874G>A c.1318G>A (p.Glu440Lys) n.1602G>A | |
15 | g.27983360T>A | CA391359218 | OCA2 | c.1488A>T (p.Gln496His) c.1416A>T (p.Gln472His) c.1512A>T (p.Gln504His) c.1440A>T (p.Gln480His) c.1374A>T (p.Gln458His) n.2873A>T c.1317A>T (p.Gln439His) n.1601A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983360T>C | CA488958648 | OCA2 | c.1488A>G (p.Gln496=) c.1416A>G (p.Gln472=) c.1512A>G (p.Gln504=) c.1440A>G (p.Gln480=) c.1374A>G (p.Gln458=) n.2873A>G c.1317A>G (p.Gln439=) n.1601A>G | |
15 | g.27983360T>G | CA391359219 | OCA2 | c.1488A>C (p.Gln496His) c.1416A>C (p.Gln472His) c.1512A>C (p.Gln504His) c.1440A>C (p.Gln480His) c.1374A>C (p.Gln458His) n.2873A>C c.1317A>C (p.Gln439His) n.1601A>C | |
15 | g.27983360T= | CA2166409926 | OCA2 | c.1488A= (p.Gln496=) c.1416A= (p.Gln472=) c.1512A= (p.Gln504=) c.1440A= (p.Gln480=) c.1374A= (p.Gln458=) n.2873A= c.1317A= (p.Gln439=) n.1601A= | |
15 | g.27983361T>A | CA391359221 | OCA2 | c.1487A>T (p.Gln496Leu) c.1415A>T (p.Gln472Leu) c.1511A>T (p.Gln504Leu) c.1439A>T (p.Gln480Leu) c.1373A>T (p.Gln458Leu) n.2872A>T c.1316A>T (p.Gln439Leu) n.1600A>T | |
15 | g.27983361T>C | CA391359225 | OCA2 | c.1487A>G (p.Gln496Arg) c.1415A>G (p.Gln472Arg) c.1511A>G (p.Gln504Arg) c.1439A>G (p.Gln480Arg) c.1373A>G (p.Gln458Arg) n.2872A>G c.1316A>G (p.Gln439Arg) n.1600A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983361T>G | CA391359226 | OCA2 | c.1487A>C (p.Gln496Pro) c.1415A>C (p.Gln472Pro) c.1511A>C (p.Gln504Pro) c.1439A>C (p.Gln480Pro) c.1373A>C (p.Gln458Pro) n.2872A>C c.1316A>C (p.Gln439Pro) n.1600A>C | |
15 | g.27983361T= | CA2166409928 | OCA2 | c.1487A= (p.Gln496=) c.1415A= (p.Gln472=) c.1511A= (p.Gln504=) c.1439A= (p.Gln480=) c.1373A= (p.Gln458=) n.2872A= c.1316A= (p.Gln439=) n.1600A= | |
15 | g.27983362G>A | CA391359230 | OCA2 | c.1486C>T (p.Gln496Ter) c.1414C>T (p.Gln472Ter) c.1510C>T (p.Gln504Ter) c.1438C>T (p.Gln480Ter) c.1372C>T (p.Gln458Ter) n.2871C>T c.1315C>T (p.Gln439Ter) n.1599C>T | |
15 | g.27983362G>C | CA391359233 | OCA2 | c.1486C>G (p.Gln496Glu) c.1414C>G (p.Gln472Glu) c.1510C>G (p.Gln504Glu) c.1438C>G (p.Gln480Glu) c.1372C>G (p.Gln458Glu) n.2871C>G c.1315C>G (p.Gln439Glu) n.1599C>G | |
15 | g.27983362G>T | CA391359228 | OCA2 | c.1486C>A (p.Gln496Lys) c.1414C>A (p.Gln472Lys) c.1510C>A (p.Gln504Lys) c.1438C>A (p.Gln480Lys) c.1372C>A (p.Gln458Lys) n.2871C>A c.1315C>A (p.Gln439Lys) n.1599C>A | |
15 | g.27983363G>A | CA488958649 | OCA2 | c.1485C>T (p.Asn495=) c.1413C>T (p.Asn471=) c.1509C>T (p.Asn503=) c.1437C>T (p.Asn479=) c.1371C>T (p.Asn457=) n.2870C>T c.1314C>T (p.Asn438=) n.1598C>T | |
15 | g.27983363G>C | CA391359237 | OCA2 | c.1485C>G (p.Asn495Lys) c.1413C>G (p.Asn471Lys) c.1509C>G (p.Asn503Lys) c.1437C>G (p.Asn479Lys) c.1371C>G (p.Asn457Lys) n.2870C>G c.1314C>G (p.Asn438Lys) n.1598C>G | |
15 | g.27983363G= | CA2166409933 | OCA2 | c.1485C= (p.Asn495=) c.1413C= (p.Asn471=) c.1509C= (p.Asn503=) c.1437C= (p.Asn479=) c.1371C= (p.Asn457=) n.2870C= c.1314C= (p.Asn438=) n.1598C= | |
15 | g.27983363G>T | CA7439026 | OCA2 | c.1485C>A (p.Asn495Lys) c.1413C>A (p.Asn471Lys) c.1509C>A (p.Asn503Lys) c.1437C>A (p.Asn479Lys) c.1371C>A (p.Asn457Lys) n.2870C>A c.1314C>A (p.Asn438Lys) n.1598C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983364T>A | CA7439027 | OCA2 | c.1484A>T (p.Asn495Ile) c.1412A>T (p.Asn471Ile) c.1508A>T (p.Asn503Ile) c.1436A>T (p.Asn479Ile) c.1370A>T (p.Asn457Ile) n.2869A>T c.1313A>T (p.Asn438Ile) n.1597A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983364T>C | CA391359240 | OCA2 | c.1484A>G (p.Asn495Ser) c.1412A>G (p.Asn471Ser) c.1508A>G (p.Asn503Ser) c.1436A>G (p.Asn479Ser) c.1370A>G (p.Asn457Ser) n.2869A>G c.1313A>G (p.Asn438Ser) n.1597A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983364T>G | CA391359242 | OCA2 | c.1484A>C (p.Asn495Thr) c.1412A>C (p.Asn471Thr) c.1508A>C (p.Asn503Thr) c.1436A>C (p.Asn479Thr) c.1370A>C (p.Asn457Thr) n.2869A>C c.1313A>C (p.Asn438Thr) n.1597A>C | |
15 | g.27983364T= | CA2166409942 | OCA2 | c.1484A= (p.Asn495=) c.1412A= (p.Asn471=) c.1508A= (p.Asn503=) c.1436A= (p.Asn479=) c.1370A= (p.Asn457=) n.2869A= c.1313A= (p.Asn438=) n.1597A= | |
15 | g.27983365T>A | CA391359244 | OCA2 | c.1483A>T (p.Asn495Tyr) c.1411A>T (p.Asn471Tyr) c.1507A>T (p.Asn503Tyr) c.1435A>T (p.Asn479Tyr) c.1369A>T (p.Asn457Tyr) n.2868A>T c.1312A>T (p.Asn438Tyr) n.1596A>T | |
15 | g.27983365T>C | CA7439028 | OCA2 | c.1483A>G (p.Asn495Asp) c.1411A>G (p.Asn471Asp) c.1507A>G (p.Asn503Asp) c.1435A>G (p.Asn479Asp) c.1369A>G (p.Asn457Asp) n.2868A>G c.1312A>G (p.Asn438Asp) n.1596A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27983365T>G | CA391359247 | OCA2 | c.1483A>C (p.Asn495His) c.1411A>C (p.Asn471His) c.1507A>C (p.Asn503His) c.1435A>C (p.Asn479His) c.1369A>C (p.Asn457His) n.2868A>C c.1312A>C (p.Asn438His) n.1596A>C | |
15 | g.27983365T= | CA2166409944 | OCA2 | c.1483A= (p.Asn495=) c.1411A= (p.Asn471=) c.1507A= (p.Asn503=) c.1435A= (p.Asn479=) c.1369A= (p.Asn457=) n.2868A= c.1312A= (p.Asn438=) n.1596A= | |
15 | g.27983366G>A | CA488958650 | OCA2 | c.1482C>T (p.Ser494=) c.1410C>T (p.Ser470=) c.1506C>T (p.Ser502=) c.1434C>T (p.Ser478=) c.1368C>T (p.Ser456=) n.2867C>T c.1311C>T (p.Ser437=) n.1595C>T | ClinVar dbSNP |
15 | g.27983366G>C | CA488958651 | OCA2 | c.1482C>G (p.Ser494=) c.1410C>G (p.Ser470=) c.1506C>G (p.Ser502=) c.1434C>G (p.Ser478=) c.1368C>G (p.Ser456=) n.2867C>G c.1311C>G (p.Ser437=) n.1595C>G | |
15 | g.27983366G>T | CA488958652 | OCA2 | c.1482C>A (p.Ser494=) c.1410C>A (p.Ser470=) c.1506C>A (p.Ser502=) c.1434C>A (p.Ser478=) c.1368C>A (p.Ser456=) n.2867C>A c.1311C>A (p.Ser437=) n.1595C>A | |
15 | g.27983367G>A | CA267890242 | OCA2 | c.1481C>T (p.Ser494Phe) c.1409C>T (p.Ser470Phe) c.1505C>T (p.Ser502Phe) c.1433C>T (p.Ser478Phe) c.1367C>T (p.Ser456Phe) n.2866C>T c.1310C>T (p.Ser437Phe) n.1594C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983367G>C | CA391359251 | OCA2 | c.1481C>G (p.Ser494Cys) c.1409C>G (p.Ser470Cys) c.1505C>G (p.Ser502Cys) c.1433C>G (p.Ser478Cys) c.1367C>G (p.Ser456Cys) n.2866C>G c.1310C>G (p.Ser437Cys) n.1594C>G | |
15 | g.27983367G= | CA2166409948 | OCA2 | c.1481C= (p.Ser494=) c.1409C= (p.Ser470=) c.1505C= (p.Ser502=) c.1433C= (p.Ser478=) c.1367C= (p.Ser456=) n.2866C= c.1310C= (p.Ser437=) n.1594C= | |
15 | g.27983367G>T | CA391359253 | OCA2 | c.1481C>A (p.Ser494Tyr) c.1409C>A (p.Ser470Tyr) c.1505C>A (p.Ser502Tyr) c.1433C>A (p.Ser478Tyr) c.1367C>A (p.Ser456Tyr) n.2866C>A c.1310C>A (p.Ser437Tyr) n.1594C>A | |
15 | g.27983368A>C | CA391359254 | OCA2 | c.1480T>G (p.Ser494Ala) c.1408T>G (p.Ser470Ala) c.1504T>G (p.Ser502Ala) c.1432T>G (p.Ser478Ala) c.1366T>G (p.Ser456Ala) n.2865T>G c.1309T>G (p.Ser437Ala) n.1593T>G | |
15 | g.27983368A>G | CA391359255 | OCA2 | c.1480T>C (p.Ser494Pro) c.1408T>C (p.Ser470Pro) c.1504T>C (p.Ser502Pro) c.1432T>C (p.Ser478Pro) c.1366T>C (p.Ser456Pro) n.2865T>C c.1309T>C (p.Ser437Pro) n.1593T>C | |
15 | g.27983368A>T | CA391359256 | OCA2 | c.1480T>A (p.Ser494Thr) c.1408T>A (p.Ser470Thr) c.1504T>A (p.Ser502Thr) c.1432T>A (p.Ser478Thr) c.1366T>A (p.Ser456Thr) n.2865T>A c.1309T>A (p.Ser437Thr) n.1593T>A | |
15 | g.27983369A= | CA2166409953 | OCA2 | c.1479T= (p.Val493=) c.1407T= (p.Val469=) c.1503T= (p.Val501=) c.1431T= (p.Val477=) c.1365T= (p.Val455=) n.2864T= c.1308T= (p.Val436=) n.1592T= | |
15 | g.27983369A>C | CA7439029 | OCA2 | c.1479T>G (p.Val493=) c.1407T>G (p.Val469=) c.1503T>G (p.Val501=) c.1431T>G (p.Val477=) c.1365T>G (p.Val455=) n.2864T>G c.1308T>G (p.Val436=) n.1592T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983369A>G | CA488958654 | OCA2 | c.1479T>C (p.Val493=) c.1407T>C (p.Val469=) c.1503T>C (p.Val501=) c.1431T>C (p.Val477=) c.1365T>C (p.Val455=) n.2864T>C c.1308T>C (p.Val436=) n.1592T>C | |
15 | g.27983369A>T | CA488958653 | OCA2 | c.1479T>A (p.Val493=) c.1407T>A (p.Val469=) c.1503T>A (p.Val501=) c.1431T>A (p.Val477=) c.1365T>A (p.Val455=) n.2864T>A c.1308T>A (p.Val436=) n.1592T>A | |
15 | g.27983370A>C | CA391359261 | OCA2 | c.1478T>G (p.Val493Gly) c.1406T>G (p.Val469Gly) c.1502T>G (p.Val501Gly) c.1430T>G (p.Val477Gly) c.1364T>G (p.Val455Gly) n.2863T>G c.1307T>G (p.Val436Gly) n.1591T>G | |
15 | g.27983370A>G | CA391359259 | OCA2 | c.1478T>C (p.Val493Ala) c.1406T>C (p.Val469Ala) c.1502T>C (p.Val501Ala) c.1430T>C (p.Val477Ala) c.1364T>C (p.Val455Ala) n.2863T>C c.1307T>C (p.Val436Ala) n.1591T>C | |
15 | g.27983370A>T | CA391359260 | OCA2 | c.1478T>A (p.Val493Asp) c.1406T>A (p.Val469Asp) c.1502T>A (p.Val501Asp) c.1430T>A (p.Val477Asp) c.1364T>A (p.Val455Asp) n.2863T>A c.1307T>A (p.Val436Asp) n.1591T>A | |
15 | g.27983371C>A | CA391359263 | OCA2 | c.1477G>T (p.Val493Phe) c.1405G>T (p.Val469Phe) c.1501G>T (p.Val501Phe) c.1429G>T (p.Val477Phe) c.1363G>T (p.Val455Phe) n.2862G>T c.1306G>T (p.Val436Phe) n.1590G>T | |
15 | g.27983371C>G | CA391359264 | OCA2 | c.1477G>C (p.Val493Leu) c.1405G>C (p.Val469Leu) c.1501G>C (p.Val501Leu) c.1429G>C (p.Val477Leu) c.1363G>C (p.Val455Leu) n.2862G>C c.1306G>C (p.Val436Leu) n.1590G>C | |
15 | g.27983371C>T | CA391359266 | OCA2 | c.1477G>A (p.Val493Ile) c.1405G>A (p.Val469Ile) c.1501G>A (p.Val501Ile) c.1429G>A (p.Val477Ile) c.1363G>A (p.Val455Ile) n.2862G>A c.1306G>A (p.Val436Ile) n.1590G>A | |
15 | g.27983371_27983374delinsCAAT | CA2166409958 | OCA2 | c.1474_1477delinsATTG (p.Ile492=) c.1402_1405delinsATTG (p.Ile468=) c.1498_1501delinsATTG (p.Ile500=) c.1426_1429delinsATTG (p.Ile476=) c.1360_1363delinsATTG (p.Ile454=) n.2859_2862delinsATTG c.1303_1306delinsATTG (p.Ile435=) n.1587_1590delinsATTG | |
15 | g.27983372A= | CA2166409962 | OCA2 | c.1476T= (p.Ile492=) c.1404T= (p.Ile468=) c.1500T= (p.Ile500=) c.1428T= (p.Ile476=) c.1362T= (p.Ile454=) n.2861T= c.1305T= (p.Ile435=) n.1589T= | |
15 | g.27983372A>C | CA391359268 | OCA2 | c.1476T>G (p.Ile492Met) c.1404T>G (p.Ile468Met) c.1500T>G (p.Ile500Met) c.1428T>G (p.Ile476Met) c.1362T>G (p.Ile454Met) n.2861T>G c.1305T>G (p.Ile435Met) n.1589T>G | dbSNP |
15 | g.27983372A>G | CA488958655 | OCA2 | c.1476T>C (p.Ile492=) c.1404T>C (p.Ile468=) c.1500T>C (p.Ile500=) c.1428T>C (p.Ile476=) c.1362T>C (p.Ile454=) n.2861T>C c.1305T>C (p.Ile435=) n.1589T>C | |
15 | g.27983372A>T | CA488958656 | OCA2 | c.1476T>A (p.Ile492=) c.1404T>A (p.Ile468=) c.1500T>A (p.Ile500=) c.1428T>A (p.Ile476=) c.1362T>A (p.Ile454=) n.2861T>A c.1305T>A (p.Ile435=) n.1589T>A | |
15 | g.27983372_27983373del | CA2627359148 | OCA2 | c.1475_1476del (p.Ile492SerfsTer?) c.1403_1404del (p.Ile468SerfsTer?) c.1499_1500del (p.Ile500SerfsTer?) c.1427_1428del (p.Ile476SerfsTer?) c.1361_1362del (p.Ile454SerfsTer?) n.2860_2861del c.1304_1305del (p.Ile435SerfsTer?) n.1588_1589del | gnomAD v4 |
15 | g.27983375_27983377del | CA711733402 | OCA2 | c.1474_1476del (p.Ile492del) c.1402_1404del (p.Ile468del) c.1498_1500del (p.Ile500del) c.1426_1428del (p.Ile476del) c.1360_1362del (p.Ile454del) n.2859_2861del c.1303_1305del (p.Ile435del) n.1587_1589del | dbSNP |
15 | g.27983373A>C | CA391359271 | OCA2 | c.1475T>G (p.Ile492Ser) c.1403T>G (p.Ile468Ser) c.1499T>G (p.Ile500Ser) c.1427T>G (p.Ile476Ser) c.1361T>G (p.Ile454Ser) n.2860T>G c.1304T>G (p.Ile435Ser) n.1588T>G | |
15 | g.27983373A>G | CA391359273 | OCA2 | c.1475T>C (p.Ile492Thr) c.1403T>C (p.Ile468Thr) c.1499T>C (p.Ile500Thr) c.1427T>C (p.Ile476Thr) c.1361T>C (p.Ile454Thr) n.2860T>C c.1304T>C (p.Ile435Thr) n.1588T>C | gnomAD v4 |
15 | g.27983373A>T | CA391359275 | OCA2 | c.1475T>A (p.Ile492Asn) c.1403T>A (p.Ile468Asn) c.1499T>A (p.Ile500Asn) c.1427T>A (p.Ile476Asn) c.1361T>A (p.Ile454Asn) n.2860T>A c.1304T>A (p.Ile435Asn) n.1588T>A | |
15 | g.27983374T>A | CA391359278 | OCA2 | c.1474A>T (p.Ile492Phe) c.1402A>T (p.Ile468Phe) c.1498A>T (p.Ile500Phe) c.1426A>T (p.Ile476Phe) c.1360A>T (p.Ile454Phe) n.2859A>T c.1303A>T (p.Ile435Phe) n.1587A>T | |
15 | g.27983374T>C | CA391359280 | OCA2 | c.1474A>G (p.Ile492Val) c.1402A>G (p.Ile468Val) c.1498A>G (p.Ile500Val) c.1426A>G (p.Ile476Val) c.1360A>G (p.Ile454Val) n.2859A>G c.1303A>G (p.Ile435Val) n.1587A>G | |
15 | g.27983374T>G | CA391359283 | OCA2 | c.1474A>C (p.Ile492Leu) c.1402A>C (p.Ile468Leu) c.1498A>C (p.Ile500Leu) c.1426A>C (p.Ile476Leu) c.1360A>C (p.Ile454Leu) n.2859A>C c.1303A>C (p.Ile435Leu) n.1587A>C | |
15 | g.27983375A>C | CA391359284 | OCA2 | c.1473T>G (p.Ile491Met) c.1401T>G (p.Ile467Met) c.1497T>G (p.Ile499Met) c.1425T>G (p.Ile475Met) c.1359T>G (p.Ile453Met) n.2858T>G c.1302T>G (p.Ile434Met) n.1586T>G | |
15 | g.27983375A>G | CA488958657 | OCA2 | c.1473T>C (p.Ile491=) c.1401T>C (p.Ile467=) c.1497T>C (p.Ile499=) c.1425T>C (p.Ile475=) c.1359T>C (p.Ile453=) n.2858T>C c.1302T>C (p.Ile434=) n.1586T>C | |
15 | g.27983375A>T | CA488958658 | OCA2 | c.1473T>A (p.Ile491=) c.1401T>A (p.Ile467=) c.1497T>A (p.Ile499=) c.1425T>A (p.Ile475=) c.1359T>A (p.Ile453=) n.2858T>A c.1302T>A (p.Ile434=) n.1586T>A | |
15 | g.27983376A>C | CA391359293 | OCA2 | c.1472T>G (p.Ile491Ser) c.1400T>G (p.Ile467Ser) c.1496T>G (p.Ile499Ser) c.1424T>G (p.Ile475Ser) c.1358T>G (p.Ile453Ser) n.2857T>G c.1301T>G (p.Ile434Ser) n.1585T>G | |
15 | g.27983376A>G | CA391359295 | OCA2 | c.1472T>C (p.Ile491Thr) c.1400T>C (p.Ile467Thr) c.1496T>C (p.Ile499Thr) c.1424T>C (p.Ile475Thr) c.1358T>C (p.Ile453Thr) n.2857T>C c.1301T>C (p.Ile434Thr) n.1585T>C | gnomAD v4 |
15 | g.27983376A>T | CA391359290 | OCA2 | c.1472T>A (p.Ile491Asn) c.1400T>A (p.Ile467Asn) c.1496T>A (p.Ile499Asn) c.1424T>A (p.Ile475Asn) c.1358T>A (p.Ile453Asn) n.2857T>A c.1301T>A (p.Ile434Asn) n.1585T>A | |
15 | g.27983377T>A | CA391359300 | OCA2 | c.1471A>T (p.Ile491Phe) c.1399A>T (p.Ile467Phe) c.1495A>T (p.Ile499Phe) c.1423A>T (p.Ile475Phe) c.1357A>T (p.Ile453Phe) n.2856A>T c.1300A>T (p.Ile434Phe) n.1584A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983377T>C | CA391359302 | OCA2 | c.1471A>G (p.Ile491Val) c.1399A>G (p.Ile467Val) c.1495A>G (p.Ile499Val) c.1423A>G (p.Ile475Val) c.1357A>G (p.Ile453Val) n.2856A>G c.1300A>G (p.Ile434Val) n.1584A>G | gnomAD v4 |
15 | g.27983377T>G | CA391359308 | OCA2 | c.1471A>C (p.Ile491Leu) c.1399A>C (p.Ile467Leu) c.1495A>C (p.Ile499Leu) c.1423A>C (p.Ile475Leu) c.1357A>C (p.Ile453Leu) n.2856A>C c.1300A>C (p.Ile434Leu) n.1584A>C | gnomAD v4 |
15 | g.27983377T= | CA2166409964 | OCA2 | c.1471A= (p.Ile491=) c.1399A= (p.Ile467=) c.1495A= (p.Ile499=) c.1423A= (p.Ile475=) c.1357A= (p.Ile453=) n.2856A= c.1300A= (p.Ile434=) n.1584A= | |
15 | g.27983378G>A | CA488958660 | OCA2 | c.1470C>T (p.Val490=) c.1398C>T (p.Val466=) c.1494C>T (p.Val498=) c.1422C>T (p.Val474=) c.1356C>T (p.Val452=) n.2855C>T c.1299C>T (p.Val433=) n.1583C>T | |
15 | g.27983378G>C | CA488958661 | OCA2 | c.1470C>G (p.Val490=) c.1398C>G (p.Val466=) c.1494C>G (p.Val498=) c.1422C>G (p.Val474=) c.1356C>G (p.Val452=) n.2855C>G c.1299C>G (p.Val433=) n.1583C>G | |
15 | g.27983378G>T | CA488958659 | OCA2 | c.1470C>A (p.Val490=) c.1398C>A (p.Val466=) c.1494C>A (p.Val498=) c.1422C>A (p.Val474=) c.1356C>A (p.Val452=) n.2855C>A c.1299C>A (p.Val433=) n.1583C>A | |
15 | g.27983379A>C | CA391359311 | OCA2 | c.1469T>G (p.Val490Gly) c.1397T>G (p.Val466Gly) c.1493T>G (p.Val498Gly) c.1421T>G (p.Val474Gly) c.1355T>G (p.Val452Gly) n.2854T>G c.1298T>G (p.Val433Gly) n.1582T>G | |
15 | g.27983379A>G | CA391359313 | OCA2 | c.1469T>C (p.Val490Ala) c.1397T>C (p.Val466Ala) c.1493T>C (p.Val498Ala) c.1421T>C (p.Val474Ala) c.1355T>C (p.Val452Ala) n.2854T>C c.1298T>C (p.Val433Ala) n.1582T>C | gnomAD v4 |
15 | g.27983379A>T | CA391359315 | OCA2 | c.1469T>A (p.Val490Asp) c.1397T>A (p.Val466Asp) c.1493T>A (p.Val498Asp) c.1421T>A (p.Val474Asp) c.1355T>A (p.Val452Asp) n.2854T>A c.1298T>A (p.Val433Asp) n.1582T>A | |
15 | g.27983380C>A | CA391359324 | OCA2 | c.1468G>T (p.Val490Phe) c.1396G>T (p.Val466Phe) c.1492G>T (p.Val498Phe) c.1420G>T (p.Val474Phe) c.1354G>T (p.Val452Phe) n.2853G>T c.1297G>T (p.Val433Phe) n.1581G>T | |
15 | g.27983380C= | CA2166409965 | OCA2 | c.1468G= (p.Val490=) c.1396G= (p.Val466=) c.1492G= (p.Val498=) c.1420G= (p.Val474=) c.1354G= (p.Val452=) n.2853G= c.1297G= (p.Val433=) n.1581G= | |
15 | g.27983380C>G | CA391359319 | OCA2 | c.1468G>C (p.Val490Leu) c.1396G>C (p.Val466Leu) c.1492G>C (p.Val498Leu) c.1420G>C (p.Val474Leu) c.1354G>C (p.Val452Leu) n.2853G>C c.1297G>C (p.Val433Leu) n.1581G>C | |
15 | g.27983380C>T | CA391359321 | OCA2 | c.1468G>A (p.Val490Ile) c.1396G>A (p.Val466Ile) c.1492G>A (p.Val498Ile) c.1420G>A (p.Val474Ile) c.1354G>A (p.Val452Ile) n.2853G>A c.1297G>A (p.Val433Ile) n.1581G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27983381A>C | CA391359326 | OCA2 | c.1467T>G (p.Asn489Lys) c.1395T>G (p.Asn465Lys) c.1491T>G (p.Asn497Lys) c.1419T>G (p.Asn473Lys) c.1353T>G (p.Asn451Lys) n.2852T>G c.1296T>G (p.Asn432Lys) n.1580T>G | |
15 | g.27983381A>G | CA488958662 | OCA2 | c.1467T>C (p.Asn489=) c.1395T>C (p.Asn465=) c.1491T>C (p.Asn497=) c.1419T>C (p.Asn473=) c.1353T>C (p.Asn451=) n.2852T>C c.1296T>C (p.Asn432=) n.1580T>C | |
15 | g.27983381A>T | CA391359328 | OCA2 | c.1467T>A (p.Asn489Lys) c.1395T>A (p.Asn465Lys) c.1491T>A (p.Asn497Lys) c.1419T>A (p.Asn473Lys) c.1353T>A (p.Asn451Lys) n.2852T>A c.1296T>A (p.Asn432Lys) n.1580T>A | |
15 | g.27983382T>A | CA391359332 | OCA2 | c.1466A>T (p.Asn489Ile) c.1394A>T (p.Asn465Ile) c.1490A>T (p.Asn497Ile) c.1418A>T (p.Asn473Ile) c.1352A>T (p.Asn451Ile) n.2851A>T c.1295A>T (p.Asn432Ile) n.1579A>T | |
15 | g.27983382T>C | CA391359333 | OCA2 | c.1466A>G (p.Asn489Ser) c.1394A>G (p.Asn465Ser) c.1490A>G (p.Asn497Ser) c.1418A>G (p.Asn473Ser) c.1352A>G (p.Asn451Ser) n.2851A>G c.1295A>G (p.Asn432Ser) n.1579A>G | |
15 | g.27983382T>G | CA391359335 | OCA2 | c.1466A>C (p.Asn489Thr) c.1394A>C (p.Asn465Thr) c.1490A>C (p.Asn497Thr) c.1418A>C (p.Asn473Thr) c.1352A>C (p.Asn451Thr) n.2851A>C c.1295A>C (p.Asn432Thr) n.1579A>C | |
15 | g.27983383T>A | CA391359338 | OCA2 | c.1465A>T (p.Asn489Tyr) c.1393A>T (p.Asn465Tyr) c.1489A>T (p.Asn497Tyr) c.1417A>T (p.Asn473Tyr) c.1351A>T (p.Asn451Tyr) n.2850A>T c.1294A>T (p.Asn432Tyr) n.1578A>T | ClinVar dbSNP |
15 | g.27983383T>C | CA251640 | OCA2 | c.1465A>G (p.Asn489Asp) c.1393A>G (p.Asn465Asp) c.1489A>G (p.Asn497Asp) c.1417A>G (p.Asn473Asp) c.1351A>G (p.Asn451Asp) n.2850A>G c.1294A>G (p.Asn432Asp) n.1578A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983383T>G | CA391359340 | OCA2 | c.1465A>C (p.Asn489His) c.1393A>C (p.Asn465His) c.1489A>C (p.Asn497His) c.1417A>C (p.Asn473His) c.1351A>C (p.Asn451His) n.2850A>C c.1294A>C (p.Asn432His) n.1578A>C | |
15 | g.27983383T= | CA2166409966 | OCA2 | c.1465A= (p.Asn489=) c.1393A= (p.Asn465=) c.1489A= (p.Asn497=) c.1417A= (p.Asn473=) c.1351A= (p.Asn451=) n.2850A= c.1294A= (p.Asn432=) n.1578A= | |
15 | g.27983384T>A | CA488958663 | OCA2 | c.1464A>T (p.Pro488=) c.1392A>T (p.Pro464=) c.1488A>T (p.Pro496=) c.1416A>T (p.Pro472=) c.1350A>T (p.Pro450=) n.2849A>T c.1293A>T (p.Pro431=) n.1577A>T | |
15 | g.27983384T>C | CA488958664 | OCA2 | c.1464A>G (p.Pro488=) c.1392A>G (p.Pro464=) c.1488A>G (p.Pro496=) c.1416A>G (p.Pro472=) c.1350A>G (p.Pro450=) n.2849A>G c.1293A>G (p.Pro431=) n.1577A>G | dbSNP |
15 | g.27983384T>G | CA488958665 | OCA2 | c.1464A>C (p.Pro488=) c.1392A>C (p.Pro464=) c.1488A>C (p.Pro496=) c.1416A>C (p.Pro472=) c.1350A>C (p.Pro450=) n.2849A>C c.1293A>C (p.Pro431=) n.1577A>C | |
15 | g.27983384T= | CA2166409967 | OCA2 | c.1464A= (p.Pro488=) c.1392A= (p.Pro464=) c.1488A= (p.Pro496=) c.1416A= (p.Pro472=) c.1350A= (p.Pro450=) n.2849A= c.1293A= (p.Pro431=) n.1577A= | |
15 | g.27983385G>A | CA391359344 | OCA2 | c.1463C>T (p.Pro488Leu) c.1391C>T (p.Pro464Leu) c.1487C>T (p.Pro496Leu) c.1415C>T (p.Pro472Leu) c.1349C>T (p.Pro450Leu) n.2848C>T c.1292C>T (p.Pro431Leu) n.1576C>T | |
15 | g.27983385G>C | CA391359347 | OCA2 | c.1463C>G (p.Pro488Arg) c.1391C>G (p.Pro464Arg) c.1487C>G (p.Pro496Arg) c.1415C>G (p.Pro472Arg) c.1349C>G (p.Pro450Arg) n.2848C>G c.1292C>G (p.Pro431Arg) n.1576C>G | |
15 | g.27983385G>T | CA391359349 | OCA2 | c.1463C>A (p.Pro488Gln) c.1391C>A (p.Pro464Gln) c.1487C>A (p.Pro496Gln) c.1415C>A (p.Pro472Gln) c.1349C>A (p.Pro450Gln) n.2848C>A c.1292C>A (p.Pro431Gln) n.1576C>A | |
15 | g.27983386G>A | CA391359352 | OCA2 | c.1462C>T (p.Pro488Ser) c.1390C>T (p.Pro464Ser) c.1486C>T (p.Pro496Ser) c.1414C>T (p.Pro472Ser) c.1348C>T (p.Pro450Ser) n.2847C>T c.1291C>T (p.Pro431Ser) n.1575C>T | |
15 | g.27983386G>C | CA391359354 | OCA2 | c.1462C>G (p.Pro488Ala) c.1390C>G (p.Pro464Ala) c.1486C>G (p.Pro496Ala) c.1414C>G (p.Pro472Ala) c.1348C>G (p.Pro450Ala) n.2847C>G c.1291C>G (p.Pro431Ala) n.1575C>G | |
15 | g.27983386G>T | CA391359357 | OCA2 | c.1462C>A (p.Pro488Thr) c.1390C>A (p.Pro464Thr) c.1486C>A (p.Pro496Thr) c.1414C>A (p.Pro472Thr) c.1348C>A (p.Pro450Thr) n.2847C>A c.1291C>A (p.Pro431Thr) n.1575C>A | |
15 | g.27983387del | CA2695197234 | OCA2 | c.1461del (p.Pro488GlnfsTer11) c.1389del (p.Pro464GlnfsTer11) c.1485del (p.Pro496GlnfsTer11) c.1413del (p.Pro472GlnfsTer11) c.1347del (p.Pro450GlnfsTer11) n.2846del c.1290del (p.Pro431GlnfsTer11) n.1574del | ClinVar |
15 | g.27983387A>C | CA488958666 | OCA2 | c.1461T>G (p.Pro487=) c.1389T>G (p.Pro463=) c.1485T>G (p.Pro495=) c.1413T>G (p.Pro471=) c.1347T>G (p.Pro449=) n.2846T>G c.1290T>G (p.Pro430=) n.1574T>G | |
15 | g.27983387A>G | CA488958667 | OCA2 | c.1461T>C (p.Pro487=) c.1389T>C (p.Pro463=) c.1485T>C (p.Pro495=) c.1413T>C (p.Pro471=) c.1347T>C (p.Pro449=) n.2846T>C c.1290T>C (p.Pro430=) n.1574T>C | |
15 | g.27983387A>T | CA488958668 | OCA2 | c.1461T>A (p.Pro487=) c.1389T>A (p.Pro463=) c.1485T>A (p.Pro495=) c.1413T>A (p.Pro471=) c.1347T>A (p.Pro449=) n.2846T>A c.1290T>A (p.Pro430=) n.1574T>A | |
15 | g.27983388G>A | CA391359359 | OCA2 | c.1460C>T (p.Pro487Leu) c.1388C>T (p.Pro463Leu) c.1484C>T (p.Pro495Leu) c.1412C>T (p.Pro471Leu) c.1346C>T (p.Pro449Leu) n.2845C>T c.1289C>T (p.Pro430Leu) n.1573C>T | dbSNP gnomAD v4 |
15 | g.27983388G>C | CA391359361 | OCA2 | c.1460C>G (p.Pro487Arg) c.1388C>G (p.Pro463Arg) c.1484C>G (p.Pro495Arg) c.1412C>G (p.Pro471Arg) c.1346C>G (p.Pro449Arg) n.2845C>G c.1289C>G (p.Pro430Arg) n.1573C>G | |
15 | g.27983388G= | CA2166409968 | OCA2 | c.1460C= (p.Pro487=) c.1388C= (p.Pro463=) c.1484C= (p.Pro495=) c.1412C= (p.Pro471=) c.1346C= (p.Pro449=) n.2845C= c.1289C= (p.Pro430=) n.1573C= | |
15 | g.27983388G>T | CA391359364 | OCA2 | c.1460C>A (p.Pro487His) c.1388C>A (p.Pro463His) c.1484C>A (p.Pro495His) c.1412C>A (p.Pro471His) c.1346C>A (p.Pro449His) n.2845C>A c.1289C>A (p.Pro430His) n.1573C>A | ClinVar dbSNP |
15 | g.27983389G>A | CA391359366 | OCA2 | c.1459C>T (p.Pro487Ser) c.1387C>T (p.Pro463Ser) c.1483C>T (p.Pro495Ser) c.1411C>T (p.Pro471Ser) c.1345C>T (p.Pro449Ser) n.2844C>T c.1288C>T (p.Pro430Ser) n.1572C>T | |
15 | g.27983389G>C | CA391359368 | OCA2 | c.1459C>G (p.Pro487Ala) c.1387C>G (p.Pro463Ala) c.1483C>G (p.Pro495Ala) c.1411C>G (p.Pro471Ala) c.1345C>G (p.Pro449Ala) n.2844C>G c.1288C>G (p.Pro430Ala) n.1572C>G | |
15 | g.27983389G>T | CA391359370 | OCA2 | c.1459C>A (p.Pro487Thr) c.1387C>A (p.Pro463Thr) c.1483C>A (p.Pro495Thr) c.1411C>A (p.Pro471Thr) c.1345C>A (p.Pro449Thr) n.2844C>A c.1288C>A (p.Pro430Thr) n.1572C>A | |
15 | g.27983390G>A | CA488958669 | OCA2 | c.1458C>T (p.Asp486=) c.1386C>T (p.Asp462=) c.1482C>T (p.Asp494=) c.1410C>T (p.Asp470=) c.1344C>T (p.Asp448=) n.2843C>T c.1287C>T (p.Asp429=) n.1571C>T | ClinVar dbSNP gnomAD v4 |
15 | g.27983390G>C | CA391359373 | OCA2 | c.1458C>G (p.Asp486Glu) c.1386C>G (p.Asp462Glu) c.1482C>G (p.Asp494Glu) c.1410C>G (p.Asp470Glu) c.1344C>G (p.Asp448Glu) n.2843C>G c.1287C>G (p.Asp429Glu) n.1571C>G | |
15 | g.27983390G>T | CA391359372 | OCA2 | c.1458C>A (p.Asp486Glu) c.1386C>A (p.Asp462Glu) c.1482C>A (p.Asp494Glu) c.1410C>A (p.Asp470Glu) c.1344C>A (p.Asp448Glu) n.2843C>A c.1287C>A (p.Asp429Glu) n.1571C>A | COSMIC COSMIC |
15 | g.27983391del | CA2627359155 | OCA2 | c.1457del (p.Asp486AlafsTer13) c.1385del (p.Asp462AlafsTer13) c.1481del (p.Asp494AlafsTer13) c.1409del (p.Asp470AlafsTer13) c.1343del (p.Asp448AlafsTer13) n.2842del c.1286del (p.Asp429AlafsTer13) n.1570del | gnomAD v4 |
15 | g.27983391T>A | CA391359375 | OCA2 | c.1457A>T (p.Asp486Val) c.1385A>T (p.Asp462Val) c.1481A>T (p.Asp494Val) c.1409A>T (p.Asp470Val) c.1343A>T (p.Asp448Val) n.2842A>T c.1286A>T (p.Asp429Val) n.1570A>T | |
15 | g.27983391T>C | CA7439030 | OCA2 | c.1457A>G (p.Asp486Gly) c.1385A>G (p.Asp462Gly) c.1481A>G (p.Asp494Gly) c.1409A>G (p.Asp470Gly) c.1343A>G (p.Asp448Gly) n.2842A>G c.1286A>G (p.Asp429Gly) n.1570A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983391T>G | CA391359377 | OCA2 | c.1457A>C (p.Asp486Ala) c.1385A>C (p.Asp462Ala) c.1481A>C (p.Asp494Ala) c.1409A>C (p.Asp470Ala) c.1343A>C (p.Asp448Ala) n.2842A>C c.1286A>C (p.Asp429Ala) n.1570A>C | |
15 | g.27983391T= | CA2166409969 | OCA2 | c.1457A= (p.Asp486=) c.1385A= (p.Asp462=) c.1481A= (p.Asp494=) c.1409A= (p.Asp470=) c.1343A= (p.Asp448=) n.2842A= c.1286A= (p.Asp429=) n.1570A= | |
15 | g.27983392C>A | CA7439031 | OCA2 | c.1456G>T (p.Asp486Tyr) c.1384G>T (p.Asp462Tyr) c.1480G>T (p.Asp494Tyr) c.1408G>T (p.Asp470Tyr) c.1342G>T (p.Asp448Tyr) n.2841G>T c.1285G>T (p.Asp429Tyr) n.1569G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983392C= | CA2166409970 | OCA2 | c.1456G= (p.Asp486=) c.1384G= (p.Asp462=) c.1480G= (p.Asp494=) c.1408G= (p.Asp470=) c.1342G= (p.Asp448=) n.2841G= c.1285G= (p.Asp429=) n.1569G= | |
15 | g.27983392C>G | CA391359384 | OCA2 | c.1456G>C (p.Asp486His) c.1384G>C (p.Asp462His) c.1480G>C (p.Asp494His) c.1408G>C (p.Asp470His) c.1342G>C (p.Asp448His) n.2841G>C c.1285G>C (p.Asp429His) n.1569G>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983392C>T | CA7439032 | OCA2 | c.1456G>A (p.Asp486Asn) c.1384G>A (p.Asp462Asn) c.1480G>A (p.Asp494Asn) c.1408G>A (p.Asp470Asn) c.1342G>A (p.Asp448Asn) n.2841G>A c.1285G>A (p.Asp429Asn) n.1569G>A | dbSNP ExAC |
15 | g.27983395del | CA2831039479 | OCA2 | c.1456del (p.Asp486ThrfsTer13) c.1384del (p.Asp462ThrfsTer13) c.1480del (p.Asp494ThrfsTer13) c.1408del (p.Asp470ThrfsTer13) c.1342del (p.Asp448ThrfsTer13) n.2841del c.1285del (p.Asp429ThrfsTer13) n.1569del | |
15 | g.27983393C>A | CA488958670 | OCA2 | c.1455G>T (p.Gly485=) c.1383G>T (p.Gly461=) c.1479G>T (p.Gly493=) c.1407G>T (p.Gly469=) c.1341G>T (p.Gly447=) n.2840G>T c.1284G>T (p.Gly428=) n.1568G>T | |
15 | g.27983393C= | CA2166409971 | OCA2 | c.1455G= (p.Gly485=) c.1383G= (p.Gly461=) c.1479G= (p.Gly493=) c.1407G= (p.Gly469=) c.1341G= (p.Gly447=) n.2840G= c.1284G= (p.Gly428=) n.1568G= | |
15 | g.27983393C>G | CA488958671 | OCA2 | c.1455G>C (p.Gly485=) c.1383G>C (p.Gly461=) c.1479G>C (p.Gly493=) c.1407G>C (p.Gly469=) c.1341G>C (p.Gly447=) n.2840G>C c.1284G>C (p.Gly428=) n.1568G>C | |
15 | g.27983393C>T | CA488958672 | OCA2 | c.1455G>A (p.Gly485=) c.1383G>A (p.Gly461=) c.1479G>A (p.Gly493=) c.1407G>A (p.Gly469=) c.1341G>A (p.Gly447=) n.2840G>A c.1284G>A (p.Gly428=) n.1568G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983394C>A | CA391359388 | OCA2 | c.1454G>T (p.Gly485Val) c.1382G>T (p.Gly461Val) c.1478G>T (p.Gly493Val) c.1406G>T (p.Gly469Val) c.1340G>T (p.Gly447Val) n.2839G>T c.1283G>T (p.Gly428Val) n.1567G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983394C= | CA2166409972 | OCA2 | c.1454G= (p.Gly485=) c.1382G= (p.Gly461=) c.1478G= (p.Gly493=) c.1406G= (p.Gly469=) c.1340G= (p.Gly447=) n.2839G= c.1283G= (p.Gly428=) n.1567G= | |
15 | g.27983394C>G | CA391359390 | OCA2 | c.1454G>C (p.Gly485Ala) c.1382G>C (p.Gly461Ala) c.1478G>C (p.Gly493Ala) c.1406G>C (p.Gly469Ala) c.1340G>C (p.Gly447Ala) n.2839G>C c.1283G>C (p.Gly428Ala) n.1567G>C | |
15 | g.27983394C>T | CA391359392 | OCA2 | c.1454G>A (p.Gly485Glu) c.1382G>A (p.Gly461Glu) c.1478G>A (p.Gly493Glu) c.1406G>A (p.Gly469Glu) c.1340G>A (p.Gly447Glu) n.2839G>A c.1283G>A (p.Gly428Glu) n.1567G>A | |
15 | g.27983395C>A | CA391359393 | OCA2 | c.1453G>T (p.Gly485Trp) c.1381G>T (p.Gly461Trp) c.1477G>T (p.Gly493Trp) c.1405G>T (p.Gly469Trp) c.1339G>T (p.Gly447Trp) n.2838G>T c.1282G>T (p.Gly428Trp) n.1566G>T | |
15 | g.27983395C= | CA2166409973 | OCA2 | c.1453G= (p.Gly485=) c.1381G= (p.Gly461=) c.1477G= (p.Gly493=) c.1405G= (p.Gly469=) c.1339G= (p.Gly447=) n.2838G= c.1282G= (p.Gly428=) n.1566G= | |
15 | g.27983395C>G | CA391359396 | OCA2 | c.1453G>C (p.Gly485Arg) c.1381G>C (p.Gly461Arg) c.1477G>C (p.Gly493Arg) c.1405G>C (p.Gly469Arg) c.1339G>C (p.Gly447Arg) n.2838G>C c.1282G>C (p.Gly428Arg) n.1566G>C | |
15 | g.27983395C>T | CA7439033 | OCA2 | c.1453G>A (p.Gly485Arg) c.1381G>A (p.Gly461Arg) c.1477G>A (p.Gly493Arg) c.1405G>A (p.Gly469Arg) c.1339G>A (p.Gly447Arg) n.2838G>A c.1282G>A (p.Gly428Arg) n.1566G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27983396G>A | CA7439034 | OCA2 | c.1452C>T (p.Ile484=) c.1380C>T (p.Ile460=) c.1476C>T (p.Ile492=) c.1404C>T (p.Ile468=) c.1338C>T (p.Ile446=) n.2837C>T c.1281C>T (p.Ile427=) n.1565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27983396G>C | CA391359401 | OCA2 | c.1452C>G (p.Ile484Met) c.1380C>G (p.Ile460Met) c.1476C>G (p.Ile492Met) c.1404C>G (p.Ile468Met) c.1338C>G (p.Ile446Met) n.2837C>G c.1281C>G (p.Ile427Met) n.1565C>G | |
15 | g.27983396G= | CA2166409974 | OCA2 | c.1452C= (p.Ile484=) c.1380C= (p.Ile460=) c.1476C= (p.Ile492=) c.1404C= (p.Ile468=) c.1338C= (p.Ile446=) n.2837C= c.1281C= (p.Ile427=) n.1565C= | |
15 | g.27983396G>T | CA488958673 | OCA2 | c.1452C>A (p.Ile484=) c.1380C>A (p.Ile460=) c.1476C>A (p.Ile492=) c.1404C>A (p.Ile468=) c.1338C>A (p.Ile446=) n.2837C>A c.1281C>A (p.Ile427=) n.1565C>A | |
15 | g.27983397A= | CA2166409975 | OCA2 | c.1451T= (p.Ile484=) c.1379T= (p.Ile460=) c.1475T= (p.Ile492=) c.1403T= (p.Ile468=) c.1337T= (p.Ile446=) n.2836T= c.1280T= (p.Ile427=) n.1564T= | |
15 | g.27983397A>C | CA391359409 | OCA2 | c.1451T>G (p.Ile484Ser) c.1379T>G (p.Ile460Ser) c.1475T>G (p.Ile492Ser) c.1403T>G (p.Ile468Ser) c.1337T>G (p.Ile446Ser) n.2836T>G c.1280T>G (p.Ile427Ser) n.1564T>G | |
15 | g.27983397A>G | CA391359406 | OCA2 | c.1451T>C (p.Ile484Thr) c.1379T>C (p.Ile460Thr) c.1475T>C (p.Ile492Thr) c.1403T>C (p.Ile468Thr) c.1337T>C (p.Ile446Thr) n.2836T>C c.1280T>C (p.Ile427Thr) n.1564T>C | |
15 | g.27983397A>T | CA391359404 | OCA2 | c.1451T>A (p.Ile484Asn) c.1379T>A (p.Ile460Asn) c.1475T>A (p.Ile492Asn) c.1403T>A (p.Ile468Asn) c.1337T>A (p.Ile446Asn) n.2836T>A c.1280T>A (p.Ile427Asn) n.1564T>A | |
15 | g.27983398T>A | CA391359411 | OCA2 | c.1450A>T (p.Ile484Phe) c.1378A>T (p.Ile460Phe) c.1474A>T (p.Ile492Phe) c.1402A>T (p.Ile468Phe) c.1336A>T (p.Ile446Phe) n.2835A>T c.1279A>T (p.Ile427Phe) n.1563A>T | |
15 | g.27983398T>C | CA7439035 | OCA2 | c.1450A>G (p.Ile484Val) c.1378A>G (p.Ile460Val) c.1474A>G (p.Ile492Val) c.1402A>G (p.Ile468Val) c.1336A>G (p.Ile446Val) n.2835A>G c.1279A>G (p.Ile427Val) n.1563A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983398T>G | CA391359415 | OCA2 | c.1450A>C (p.Ile484Leu) c.1378A>C (p.Ile460Leu) c.1474A>C (p.Ile492Leu) c.1402A>C (p.Ile468Leu) c.1336A>C (p.Ile446Leu) n.2835A>C c.1279A>C (p.Ile427Leu) n.1563A>C | |
15 | g.27983398T= | CA2166409976 | OCA2 | c.1450A= (p.Ile484=) c.1378A= (p.Ile460=) c.1474A= (p.Ile492=) c.1402A= (p.Ile468=) c.1336A= (p.Ile446=) n.2835A= c.1279A= (p.Ile427=) n.1563A= | |
15 | g.27983399_27983400insTCAGGGCAGTG | CA968005521 | OCA2 | c.1450_1451insCTGCCCTGACA (p.Ile484ThrfsTer19) c.1378_1379insCTGCCCTGACA (p.Ile460ThrfsTer19) c.1474_1475insCTGCCCTGACA (p.Ile492ThrfsTer19) c.1402_1403insCTGCCCTGACA (p.Ile468ThrfsTer19) c.1336_1337insCTGCCCTGACA (p.Ile446ThrfsTer19) n.2835_2836insCTGCCCTGACA c.1279_1280insCTGCCCTGACA (p.Ile427ThrfsTer19) n.1563_1564insCTGCCCTGACA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983399G>A | CA488958676 | OCA2 | c.1449C>T (p.Ala483=) c.1377C>T (p.Ala459=) c.1473C>T (p.Ala491=) c.1401C>T (p.Ala467=) c.1335C>T (p.Ala445=) n.2834C>T c.1278C>T (p.Ala426=) n.1562C>T | ClinVar dbSNP gnomAD v4 |
15 | g.27983399G>C | CA488958674 | OCA2 | c.1449C>G (p.Ala483=) c.1377C>G (p.Ala459=) c.1473C>G (p.Ala491=) c.1401C>G (p.Ala467=) c.1335C>G (p.Ala445=) n.2834C>G c.1278C>G (p.Ala426=) n.1562C>G | |
15 | g.27983399G= | CA2166409977 | OCA2 | c.1449C= (p.Ala483=) c.1377C= (p.Ala459=) c.1473C= (p.Ala491=) c.1401C= (p.Ala467=) c.1335C= (p.Ala445=) n.2834C= c.1278C= (p.Ala426=) n.1562C= | |
15 | g.27983399G>T | CA488958675 | OCA2 | c.1449C>A (p.Ala483=) c.1377C>A (p.Ala459=) c.1473C>A (p.Ala491=) c.1401C>A (p.Ala467=) c.1335C>A (p.Ala445=) n.2834C>A c.1278C>A (p.Ala426=) n.1562C>A | ClinVar gnomAD v4 |
15 | g.27983400G>A | CA391359418 | OCA2 | c.1448C>T (p.Ala483Val) c.1376C>T (p.Ala459Val) c.1472C>T (p.Ala491Val) c.1400C>T (p.Ala467Val) c.1334C>T (p.Ala445Val) n.2833C>T c.1277C>T (p.Ala426Val) n.1561C>T | |
15 | g.27983400G>C | CA391359420 | OCA2 | c.1448C>G (p.Ala483Gly) c.1376C>G (p.Ala459Gly) c.1472C>G (p.Ala491Gly) c.1400C>G (p.Ala467Gly) c.1334C>G (p.Ala445Gly) n.2833C>G c.1277C>G (p.Ala426Gly) n.1561C>G | |
15 | g.27983400G>T | CA391359422 | OCA2 | c.1448C>A (p.Ala483Asp) c.1376C>A (p.Ala459Asp) c.1472C>A (p.Ala491Asp) c.1400C>A (p.Ala467Asp) c.1334C>A (p.Ala445Asp) n.2833C>A c.1277C>A (p.Ala426Asp) n.1561C>A | |
15 | g.27983401C>A | CA391359425 | OCA2 | c.1447G>T (p.Ala483Ser) c.1375G>T (p.Ala459Ser) c.1471G>T (p.Ala491Ser) c.1399G>T (p.Ala467Ser) c.1333G>T (p.Ala445Ser) n.2832G>T c.1276G>T (p.Ala426Ser) n.1560G>T | |
15 | g.27983401C>G | CA391359427 | OCA2 | c.1447G>C (p.Ala483Pro) c.1375G>C (p.Ala459Pro) c.1471G>C (p.Ala491Pro) c.1399G>C (p.Ala467Pro) c.1333G>C (p.Ala445Pro) n.2832G>C c.1276G>C (p.Ala426Pro) n.1560G>C | |
15 | g.27983401C>T | CA391359429 | OCA2 | c.1447G>A (p.Ala483Thr) c.1375G>A (p.Ala459Thr) c.1471G>A (p.Ala491Thr) c.1399G>A (p.Ala467Thr) c.1333G>A (p.Ala445Thr) n.2832G>A c.1276G>A (p.Ala426Thr) n.1560G>A | |
15 | g.27983402A>C | CA488958677 | OCA2 | c.1446T>G (p.Thr482=) c.1374T>G (p.Thr458=) c.1470T>G (p.Thr490=) c.1398T>G (p.Thr466=) c.1332T>G (p.Thr444=) n.2831T>G c.1275T>G (p.Thr425=) n.1559T>G | |
15 | g.27983402A>G | CA488958678 | OCA2 | c.1446T>C (p.Thr482=) c.1374T>C (p.Thr458=) c.1470T>C (p.Thr490=) c.1398T>C (p.Thr466=) c.1332T>C (p.Thr444=) n.2831T>C c.1275T>C (p.Thr425=) n.1559T>C | |
15 | g.27983402A>T | CA488958679 | OCA2 | c.1446T>A (p.Thr482=) c.1374T>A (p.Thr458=) c.1470T>A (p.Thr490=) c.1398T>A (p.Thr466=) c.1332T>A (p.Thr444=) n.2831T>A c.1275T>A (p.Thr425=) n.1559T>A | |
15 | g.27983403G>A | CA391359432 | OCA2 | c.1445C>T (p.Thr482Ile) c.1373C>T (p.Thr458Ile) c.1469C>T (p.Thr490Ile) c.1397C>T (p.Thr466Ile) c.1331C>T (p.Thr444Ile) n.2830C>T c.1274C>T (p.Thr425Ile) n.1558C>T | gnomAD v4 |
15 | g.27983403G>C | CA391359435 | OCA2 | c.1445C>G (p.Thr482Ser) c.1373C>G (p.Thr458Ser) c.1469C>G (p.Thr490Ser) c.1397C>G (p.Thr466Ser) c.1331C>G (p.Thr444Ser) n.2830C>G c.1274C>G (p.Thr425Ser) n.1558C>G | COSMIC |
15 | g.27983403G>T | CA391359436 | OCA2 | c.1445C>A (p.Thr482Asn) c.1373C>A (p.Thr458Asn) c.1469C>A (p.Thr490Asn) c.1397C>A (p.Thr466Asn) c.1331C>A (p.Thr444Asn) n.2830C>A c.1274C>A (p.Thr425Asn) n.1558C>A | |
15 | g.27983404T>A | CA391359438 | OCA2 | c.1444A>T (p.Thr482Ser) c.1372A>T (p.Thr458Ser) c.1468A>T (p.Thr490Ser) c.1396A>T (p.Thr466Ser) c.1330A>T (p.Thr444Ser) n.2829A>T c.1273A>T (p.Thr425Ser) n.1557A>T | |
15 | g.27983404T>C | CA391359440 | OCA2 | c.1444A>G (p.Thr482Ala) c.1372A>G (p.Thr458Ala) c.1468A>G (p.Thr490Ala) c.1396A>G (p.Thr466Ala) c.1330A>G (p.Thr444Ala) n.2829A>G c.1273A>G (p.Thr425Ala) n.1557A>G | gnomAD v4 |
15 | g.27983404T>G | CA391359437 | OCA2 | c.1444A>C (p.Thr482Pro) c.1372A>C (p.Thr458Pro) c.1468A>C (p.Thr490Pro) c.1396A>C (p.Thr466Pro) c.1330A>C (p.Thr444Pro) n.2829A>C c.1273A>C (p.Thr425Pro) n.1557A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983404T= | CA2166409979 | OCA2 | c.1444A= (p.Thr482=) c.1372A= (p.Thr458=) c.1468A= (p.Thr490=) c.1396A= (p.Thr466=) c.1330A= (p.Thr444=) n.2829A= c.1273A= (p.Thr425=) n.1557A= | |
15 | g.27983404_27983405delinsTG | CA2166409978 | OCA2 | c.1443_1444delinsCA (p.Ala481=) c.1371_1372delinsCA (p.Ala457=) c.1467_1468delinsCA (p.Ala489=) c.1395_1396delinsCA (p.Ala465=) c.1329_1330delinsCA (p.Ala443=) n.2828_2829delinsCA c.1272_1273delinsCA (p.Ala424=) n.1556_1557delinsCA | |
15 | g.27983405G>A | CA488958680 | OCA2 | c.1443C>T (p.Ala481=) c.1371C>T (p.Ala457=) c.1467C>T (p.Ala489=) c.1395C>T (p.Ala465=) c.1329C>T (p.Ala443=) n.2828C>T c.1272C>T (p.Ala424=) n.1556C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983405G>C | CA488958681 | OCA2 | c.1443C>G (p.Ala481=) c.1371C>G (p.Ala457=) c.1467C>G (p.Ala489=) c.1395C>G (p.Ala465=) c.1329C>G (p.Ala443=) n.2828C>G c.1272C>G (p.Ala424=) n.1556C>G | |
15 | g.27983405G= | CA2166409980 | OCA2 | c.1443C= (p.Ala481=) c.1371C= (p.Ala457=) c.1467C= (p.Ala489=) c.1395C= (p.Ala465=) c.1329C= (p.Ala443=) n.2828C= c.1272C= (p.Ala424=) n.1556C= | |
15 | g.27983405G>T | CA488958682 | OCA2 | c.1443C>A (p.Ala481=) c.1371C>A (p.Ala457=) c.1467C>A (p.Ala489=) c.1395C>A (p.Ala465=) c.1329C>A (p.Ala443=) n.2828C>A c.1272C>A (p.Ala424=) n.1556C>A | |
15 | g.27983406del | CA7439036 | OCA2 | c.1443del (p.Thr482LeufsTer17) c.1371del (p.Thr458LeufsTer17) c.1467del (p.Thr490LeufsTer17) c.1395del (p.Thr466LeufsTer17) c.1329del (p.Thr444LeufsTer17) n.2828del c.1272del (p.Thr425LeufsTer17) n.1556del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983406G>A | CA391359442 | OCA2 | c.1442C>T (p.Ala481Val) c.1370C>T (p.Ala457Val) c.1466C>T (p.Ala489Val) c.1394C>T (p.Ala465Val) c.1328C>T (p.Ala443Val) n.2827C>T c.1271C>T (p.Ala424Val) n.1555C>T | ClinVar |
15 | g.27983406G>C | CA391359444 | OCA2 | c.1442C>G (p.Ala481Gly) c.1370C>G (p.Ala457Gly) c.1466C>G (p.Ala489Gly) c.1394C>G (p.Ala465Gly) c.1328C>G (p.Ala443Gly) n.2827C>G c.1271C>G (p.Ala424Gly) n.1555C>G | |
15 | g.27983406G>T | CA391359448 | OCA2 | c.1442C>A (p.Ala481Asp) c.1370C>A (p.Ala457Asp) c.1466C>A (p.Ala489Asp) c.1394C>A (p.Ala465Asp) c.1328C>A (p.Ala443Asp) n.2827C>A c.1271C>A (p.Ala424Asp) n.1555C>A | |
15 | g.27983407C>A | CA391359451 | OCA2 | c.1441G>T (p.Ala481Ser) c.1369G>T (p.Ala457Ser) c.1465G>T (p.Ala489Ser) c.1393G>T (p.Ala465Ser) c.1327G>T (p.Ala443Ser) n.2826G>T c.1270G>T (p.Ala424Ser) n.1554G>T | |
15 | g.27983407C= | CA2166409981 | OCA2 | c.1441G= (p.Ala481=) c.1369G= (p.Ala457=) c.1465G= (p.Ala489=) c.1393G= (p.Ala465=) c.1327G= (p.Ala443=) n.2826G= c.1270G= (p.Ala424=) n.1554G= | |
15 | g.27983407C>G | CA391359453 | OCA2 | c.1441G>C (p.Ala481Pro) c.1369G>C (p.Ala457Pro) c.1465G>C (p.Ala489Pro) c.1393G>C (p.Ala465Pro) c.1327G>C (p.Ala443Pro) n.2826G>C c.1270G>C (p.Ala424Pro) n.1554G>C | |
15 | g.27983407C>T | CA251633 | OCA2 | c.1441G>A (p.Ala481Thr) c.1369G>A (p.Ala457Thr) c.1465G>A (p.Ala489Thr) c.1393G>A (p.Ala465Thr) c.1327G>A (p.Ala443Thr) n.2826G>A c.1270G>A (p.Ala424Thr) n.1554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983408A>C | CA488958683 | OCA2 | c.1440T>G (p.Ala480=) c.1368T>G (p.Ala456=) c.1464T>G (p.Ala488=) c.1392T>G (p.Ala464=) c.1326T>G (p.Ala442=) n.2825T>G c.1269T>G (p.Ala423=) n.1553T>G | |
15 | g.27983408A>G | CA488958684 | OCA2 | c.1440T>C (p.Ala480=) c.1368T>C (p.Ala456=) c.1464T>C (p.Ala488=) c.1392T>C (p.Ala464=) c.1326T>C (p.Ala442=) n.2825T>C c.1269T>C (p.Ala423=) n.1553T>C | ClinVar |
15 | g.27983408A>T | CA488958685 | OCA2 | c.1440T>A (p.Ala480=) c.1368T>A (p.Ala456=) c.1464T>A (p.Ala488=) c.1392T>A (p.Ala464=) c.1326T>A (p.Ala442=) n.2825T>A c.1269T>A (p.Ala423=) n.1553T>A | |
15 | g.27983409G>A | CA391359456 | OCA2 | c.1439C>T (p.Ala480Val) c.1367C>T (p.Ala456Val) c.1463C>T (p.Ala488Val) c.1391C>T (p.Ala464Val) c.1325C>T (p.Ala442Val) n.2824C>T c.1268C>T (p.Ala423Val) n.1552C>T | |
15 | g.27983409G>C | CA391359459 | OCA2 | c.1439C>G (p.Ala480Gly) c.1367C>G (p.Ala456Gly) c.1463C>G (p.Ala488Gly) c.1391C>G (p.Ala464Gly) c.1325C>G (p.Ala442Gly) n.2824C>G c.1268C>G (p.Ala423Gly) n.1552C>G | gnomAD v4 |
15 | g.27983409G>T | CA391359461 | OCA2 | c.1439C>A (p.Ala480Asp) c.1367C>A (p.Ala456Asp) c.1463C>A (p.Ala488Asp) c.1391C>A (p.Ala464Asp) c.1325C>A (p.Ala442Asp) n.2824C>A c.1268C>A (p.Ala423Asp) n.1552C>A | |
15 | g.27983410C>A | CA391359464 | OCA2 | c.1438G>T (p.Ala480Ser) c.1366G>T (p.Ala456Ser) c.1462G>T (p.Ala488Ser) c.1390G>T (p.Ala464Ser) c.1324G>T (p.Ala442Ser) n.2823G>T c.1267G>T (p.Ala423Ser) n.1551G>T | |
15 | g.27983410C= | CA2166409982 | OCA2 | c.1438G= (p.Ala480=) c.1366G= (p.Ala456=) c.1462G= (p.Ala488=) c.1390G= (p.Ala464=) c.1324G= (p.Ala442=) n.2823G= c.1267G= (p.Ala423=) n.1551G= | |
15 | g.27983410C>G | CA7439037 | OCA2 | c.1438G>C (p.Ala480Pro) c.1366G>C (p.Ala456Pro) c.1462G>C (p.Ala488Pro) c.1390G>C (p.Ala464Pro) c.1324G>C (p.Ala442Pro) n.2823G>C c.1267G>C (p.Ala423Pro) n.1551G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983410C>T | CA391359468 | OCA2 | c.1438G>A (p.Ala480Thr) c.1366G>A (p.Ala456Thr) c.1462G>A (p.Ala488Thr) c.1390G>A (p.Ala464Thr) c.1324G>A (p.Ala442Thr) n.2823G>A c.1267G>A (p.Ala423Thr) n.1551G>A | |
15 | g.27983414_27983416dup | CA2627359156 | OCA2 | c.1436_1438dup (p.Gly479_Ala480insGly) c.1364_1366dup (p.Gly455_Ala456insGly) c.1460_1462dup (p.Gly487_Ala488insGly) c.1388_1390dup (p.Gly463_Ala464insGly) c.1322_1324dup (p.Gly441_Ala442insGly) n.2821_2823dup c.1265_1267dup (p.Gly422_Ala423insGly) n.1549_1551dup | gnomAD v4 |
15 | g.27983411T>A | CA488958686 | OCA2 | c.1437A>T (p.Gly479=) c.1365A>T (p.Gly455=) c.1461A>T (p.Gly487=) c.1389A>T (p.Gly463=) c.1323A>T (p.Gly441=) n.2822A>T c.1266A>T (p.Gly422=) n.1550A>T | |
15 | g.27983411T>C | CA488958687 | OCA2 | c.1437A>G (p.Gly479=) c.1365A>G (p.Gly455=) c.1461A>G (p.Gly487=) c.1389A>G (p.Gly463=) c.1323A>G (p.Gly441=) n.2822A>G c.1266A>G (p.Gly422=) n.1550A>G | |
15 | g.27983411T>G | CA488958688 | OCA2 | c.1437A>C (p.Gly479=) c.1365A>C (p.Gly455=) c.1461A>C (p.Gly487=) c.1389A>C (p.Gly463=) c.1323A>C (p.Gly441=) n.2822A>C c.1266A>C (p.Gly422=) n.1550A>C | |
15 | g.27983412C>A | CA391359484 | OCA2 | c.1436G>T (p.Gly479Val) c.1364G>T (p.Gly455Val) c.1460G>T (p.Gly487Val) c.1388G>T (p.Gly463Val) c.1322G>T (p.Gly441Val) n.2821G>T c.1265G>T (p.Gly422Val) n.1549G>T | |
15 | g.27983412C>G | CA391359475 | OCA2 | c.1436G>C (p.Gly479Ala) c.1364G>C (p.Gly455Ala) c.1460G>C (p.Gly487Ala) c.1388G>C (p.Gly463Ala) c.1322G>C (p.Gly441Ala) n.2821G>C c.1265G>C (p.Gly422Ala) n.1549G>C | |
15 | g.27983412C>T | CA391359471 | OCA2 | c.1436G>A (p.Gly479Glu) c.1364G>A (p.Gly455Glu) c.1460G>A (p.Gly487Glu) c.1388G>A (p.Gly463Glu) c.1322G>A (p.Gly441Glu) n.2821G>A c.1265G>A (p.Gly422Glu) n.1549G>A | |
15 | g.27983413C>A | CA391359487 | OCA2 | c.1435G>T (p.Gly479Ter) c.1363G>T (p.Gly455Ter) c.1459G>T (p.Gly487Ter) c.1387G>T (p.Gly463Ter) c.1321G>T (p.Gly441Ter) n.2820G>T c.1264G>T (p.Gly422Ter) n.1548G>T | |
15 | g.27983413C>G | CA391359488 | OCA2 | c.1435G>C (p.Gly479Arg) c.1363G>C (p.Gly455Arg) c.1459G>C (p.Gly487Arg) c.1387G>C (p.Gly463Arg) c.1321G>C (p.Gly441Arg) n.2820G>C c.1264G>C (p.Gly422Arg) n.1548G>C | |
15 | g.27983413C>T | CA391359491 | OCA2 | c.1435G>A (p.Gly479Arg) c.1363G>A (p.Gly455Arg) c.1459G>A (p.Gly487Arg) c.1387G>A (p.Gly463Arg) c.1321G>A (p.Gly441Arg) n.2820G>A c.1264G>A (p.Gly422Arg) n.1548G>A | |
15 | g.27983414T>A | CA488958689 | OCA2 | c.1434A>T (p.Gly478=) c.1362A>T (p.Gly454=) c.1458A>T (p.Gly486=) c.1386A>T (p.Gly462=) c.1320A>T (p.Gly440=) n.2819A>T c.1263A>T (p.Gly421=) n.1547A>T | |
15 | g.27983414T>C | CA488958690 | OCA2 | c.1434A>G (p.Gly478=) c.1362A>G (p.Gly454=) c.1458A>G (p.Gly486=) c.1386A>G (p.Gly462=) c.1320A>G (p.Gly440=) n.2819A>G c.1263A>G (p.Gly421=) n.1547A>G | ClinVar gnomAD v4 |
15 | g.27983414T>G | CA488958691 | OCA2 | c.1434A>C (p.Gly478=) c.1362A>C (p.Gly454=) c.1458A>C (p.Gly486=) c.1386A>C (p.Gly462=) c.1320A>C (p.Gly440=) n.2819A>C c.1263A>C (p.Gly421=) n.1547A>C | |
15 | g.27983415C>A | CA391359493 | OCA2 | c.1433G>T (p.Gly478Val) c.1361G>T (p.Gly454Val) c.1457G>T (p.Gly486Val) c.1385G>T (p.Gly462Val) c.1319G>T (p.Gly440Val) n.2818G>T c.1262G>T (p.Gly421Val) n.1546G>T | |
15 | g.27983415C>G | CA391359495 | OCA2 | c.1433G>C (p.Gly478Ala) c.1361G>C (p.Gly454Ala) c.1457G>C (p.Gly486Ala) c.1385G>C (p.Gly462Ala) c.1319G>C (p.Gly440Ala) n.2818G>C c.1262G>C (p.Gly421Ala) n.1546G>C | |
15 | g.27983415C>T | CA391359497 | OCA2 | c.1433G>A (p.Gly478Glu) c.1361G>A (p.Gly454Glu) c.1457G>A (p.Gly486Glu) c.1385G>A (p.Gly462Glu) c.1319G>A (p.Gly440Glu) n.2818G>A c.1262G>A (p.Gly421Glu) n.1546G>A | |
15 | g.27983416C>A | CA391359501 | OCA2 | c.1432G>T (p.Gly478Ter) c.1360G>T (p.Gly454Ter) c.1456G>T (p.Gly486Ter) c.1384G>T (p.Gly462Ter) c.1318G>T (p.Gly440Ter) n.2817G>T c.1261G>T (p.Gly421Ter) n.1545G>T | |
15 | g.27983416C>G | CA391359503 | OCA2 | c.1432G>C (p.Gly478Arg) c.1360G>C (p.Gly454Arg) c.1456G>C (p.Gly486Arg) c.1384G>C (p.Gly462Arg) c.1318G>C (p.Gly440Arg) n.2817G>C c.1261G>C (p.Gly421Arg) n.1545G>C | |
15 | g.27983416C>T | CA391359506 | OCA2 | c.1432G>A (p.Gly478Arg) c.1360G>A (p.Gly454Arg) c.1456G>A (p.Gly486Arg) c.1384G>A (p.Gly462Arg) c.1318G>A (p.Gly440Arg) n.2817G>A c.1261G>A (p.Gly421Arg) n.1545G>A | |
15 | g.27983417A= | CA2166409983 | OCA2 | c.1431T= (p.Ile477=) c.1359T= (p.Ile453=) c.1455T= (p.Ile485=) c.1383T= (p.Ile461=) c.1317T= (p.Ile439=) n.2816T= c.1260T= (p.Ile420=) n.1544T= | |
15 | g.27983417A>C | CA7439038 | OCA2 | c.1431T>G (p.Ile477Met) c.1359T>G (p.Ile453Met) c.1455T>G (p.Ile485Met) c.1383T>G (p.Ile461Met) c.1317T>G (p.Ile439Met) n.2816T>G c.1260T>G (p.Ile420Met) n.1544T>G | dbSNP ExAC |
15 | g.27983417A>G | CA488958692 | OCA2 | c.1431T>C (p.Ile477=) c.1359T>C (p.Ile453=) c.1455T>C (p.Ile485=) c.1383T>C (p.Ile461=) c.1317T>C (p.Ile439=) n.2816T>C c.1260T>C (p.Ile420=) n.1544T>C | dbSNP gnomAD v2 |
15 | g.27983417A>T | CA488958693 | OCA2 | c.1431T>A (p.Ile477=) c.1359T>A (p.Ile453=) c.1455T>A (p.Ile485=) c.1383T>A (p.Ile461=) c.1317T>A (p.Ile439=) n.2816T>A c.1260T>A (p.Ile420=) n.1544T>A | |
15 | g.27983418A= | CA2166409984 | OCA2 | c.1430T= (p.Ile477=) c.1358T= (p.Ile453=) c.1454T= (p.Ile485=) c.1382T= (p.Ile461=) c.1316T= (p.Ile439=) n.2815T= c.1259T= (p.Ile420=) n.1543T= | |
15 | g.27983418A>C | CA391359508 | OCA2 | c.1430T>G (p.Ile477Ser) c.1358T>G (p.Ile453Ser) c.1454T>G (p.Ile485Ser) c.1382T>G (p.Ile461Ser) c.1316T>G (p.Ile439Ser) n.2815T>G c.1259T>G (p.Ile420Ser) n.1543T>G | |
15 | g.27983418A>G | CA7439039 | OCA2 | c.1430T>C (p.Ile477Thr) c.1358T>C (p.Ile453Thr) c.1454T>C (p.Ile485Thr) c.1382T>C (p.Ile461Thr) c.1316T>C (p.Ile439Thr) n.2815T>C c.1259T>C (p.Ile420Thr) n.1543T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983418A>T | CA391359512 | OCA2 | c.1430T>A (p.Ile477Asn) c.1358T>A (p.Ile453Asn) c.1454T>A (p.Ile485Asn) c.1382T>A (p.Ile461Asn) c.1316T>A (p.Ile439Asn) n.2815T>A c.1259T>A (p.Ile420Asn) n.1543T>A | |
15 | g.27983419T>A | CA391359516 | OCA2 | c.1429A>T (p.Ile477Phe) c.1357A>T (p.Ile453Phe) c.1453A>T (p.Ile485Phe) c.1381A>T (p.Ile461Phe) c.1315A>T (p.Ile439Phe) n.2814A>T c.1258A>T (p.Ile420Phe) n.1542A>T | dbSNP |
15 | g.27983419T>C | CA267890275 | OCA2 | c.1429A>G (p.Ile477Val) c.1357A>G (p.Ile453Val) c.1453A>G (p.Ile485Val) c.1381A>G (p.Ile461Val) c.1315A>G (p.Ile439Val) n.2814A>G c.1258A>G (p.Ile420Val) n.1542A>G | ClinVar dbSNP gnomAD v4 |
15 | g.27983419T>G | CA391359513 | OCA2 | c.1429A>C (p.Ile477Leu) c.1357A>C (p.Ile453Leu) c.1453A>C (p.Ile485Leu) c.1381A>C (p.Ile461Leu) c.1315A>C (p.Ile439Leu) n.2814A>C c.1258A>C (p.Ile420Leu) n.1542A>C | |
15 | g.27983419T= | CA2166409985 | OCA2 | c.1429A= (p.Ile477=) c.1357A= (p.Ile453=) c.1453A= (p.Ile485=) c.1381A= (p.Ile461=) c.1315A= (p.Ile439=) n.2814A= c.1258A= (p.Ile420=) n.1542A= | |
15 | g.27983420G>A | CA488958694 | OCA2 | c.1428C>T (p.Asn476=) c.1356C>T (p.Asn452=) c.1452C>T (p.Asn484=) c.1380C>T (p.Asn460=) c.1314C>T (p.Asn438=) n.2813C>T c.1257C>T (p.Asn419=) n.1541C>T | COSMIC |
15 | g.27983420G>C | CA391359519 | OCA2 | c.1428C>G (p.Asn476Lys) c.1356C>G (p.Asn452Lys) c.1452C>G (p.Asn484Lys) c.1380C>G (p.Asn460Lys) c.1314C>G (p.Asn438Lys) n.2813C>G c.1257C>G (p.Asn419Lys) n.1541C>G | |
15 | g.27983420G>T | CA391359520 | OCA2 | c.1428C>A (p.Asn476Lys) c.1356C>A (p.Asn452Lys) c.1452C>A (p.Asn484Lys) c.1380C>A (p.Asn460Lys) c.1314C>A (p.Asn438Lys) n.2813C>A c.1257C>A (p.Asn419Lys) n.1541C>A | |
15 | g.27983421T>A | CA391359523 | OCA2 | c.1427A>T (p.Asn476Ile) c.1355A>T (p.Asn452Ile) c.1451A>T (p.Asn484Ile) c.1379A>T (p.Asn460Ile) c.1313A>T (p.Asn438Ile) n.2812A>T c.1256A>T (p.Asn419Ile) n.1540A>T | |
15 | g.27983421T>C | CA276958 | OCA2 | c.1427A>G (p.Asn476Ser) c.1355A>G (p.Asn452Ser) c.1451A>G (p.Asn484Ser) c.1379A>G (p.Asn460Ser) c.1313A>G (p.Asn438Ser) n.2812A>G c.1256A>G (p.Asn419Ser) n.1540A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.27983421T>G | CA391359526 | OCA2 | c.1427A>C (p.Asn476Thr) c.1355A>C (p.Asn452Thr) c.1451A>C (p.Asn484Thr) c.1379A>C (p.Asn460Thr) c.1313A>C (p.Asn438Thr) n.2812A>C c.1256A>C (p.Asn419Thr) n.1540A>C | |
15 | g.27983421T= | CA2166409986 | OCA2 | c.1427A= (p.Asn476=) c.1355A= (p.Asn452=) c.1451A= (p.Asn484=) c.1379A= (p.Asn460=) c.1313A= (p.Asn438=) n.2812A= c.1256A= (p.Asn419=) n.1540A= | |
15 | g.27983422T>A | CA391359530 | OCA2 | c.1426A>T (p.Asn476Tyr) c.1354A>T (p.Asn452Tyr) c.1450A>T (p.Asn484Tyr) c.1378A>T (p.Asn460Tyr) c.1312A>T (p.Asn438Tyr) n.2811A>T c.1255A>T (p.Asn419Tyr) n.1539A>T | |
15 | g.27983422T>C | CA391359535 | OCA2 | c.1426A>G (p.Asn476Asp) c.1354A>G (p.Asn452Asp) c.1450A>G (p.Asn484Asp) c.1378A>G (p.Asn460Asp) c.1312A>G (p.Asn438Asp) n.2811A>G c.1255A>G (p.Asn419Asp) n.1539A>G | ClinVar |
15 | g.27983422T>G | CA391359533 | OCA2 | c.1426A>C (p.Asn476His) c.1354A>C (p.Asn452His) c.1450A>C (p.Asn484His) c.1378A>C (p.Asn460His) c.1312A>C (p.Asn438His) n.2811A>C c.1255A>C (p.Asn419His) n.1539A>C | gnomAD v4 |
15 | g.27983423T>A | CA488958695 | OCA2 | c.1425A>T (p.Thr475=) c.1353A>T (p.Thr451=) c.1449A>T (p.Thr483=) c.1377A>T (p.Thr459=) c.1311A>T (p.Thr437=) n.2810A>T c.1254A>T (p.Thr418=) n.1538A>T | |
15 | g.27983423T>C | CA488958696 | OCA2 | c.1425A>G (p.Thr475=) c.1353A>G (p.Thr451=) c.1449A>G (p.Thr483=) c.1377A>G (p.Thr459=) c.1311A>G (p.Thr437=) n.2810A>G c.1254A>G (p.Thr418=) n.1538A>G | gnomAD v4 |
15 | g.27983423T>G | CA488958697 | OCA2 | c.1425A>C (p.Thr475=) c.1353A>C (p.Thr451=) c.1449A>C (p.Thr483=) c.1377A>C (p.Thr459=) c.1311A>C (p.Thr437=) n.2810A>C c.1254A>C (p.Thr418=) n.1538A>C | |
15 | g.27983424G>A | CA391359538 | OCA2 | c.1424C>T (p.Thr475Ile) c.1352C>T (p.Thr451Ile) c.1448C>T (p.Thr483Ile) c.1376C>T (p.Thr459Ile) c.1310C>T (p.Thr437Ile) n.2809C>T c.1253C>T (p.Thr418Ile) n.1537C>T | dbSNP |
15 | g.27983424G>C | CA391359541 | OCA2 | c.1424C>G (p.Thr475Arg) c.1352C>G (p.Thr451Arg) c.1448C>G (p.Thr483Arg) c.1376C>G (p.Thr459Arg) c.1310C>G (p.Thr437Arg) n.2809C>G c.1253C>G (p.Thr418Arg) n.1537C>G | |
15 | g.27983424G= | CA2166409987 | OCA2 | c.1424C= (p.Thr475=) c.1352C= (p.Thr451=) c.1448C= (p.Thr483=) c.1376C= (p.Thr459=) c.1310C= (p.Thr437=) n.2809C= c.1253C= (p.Thr418=) n.1537C= | |
15 | g.27983424G>T | CA391359543 | OCA2 | c.1424C>A (p.Thr475Lys) c.1352C>A (p.Thr451Lys) c.1448C>A (p.Thr483Lys) c.1376C>A (p.Thr459Lys) c.1310C>A (p.Thr437Lys) n.2809C>A c.1253C>A (p.Thr418Lys) n.1537C>A | |
15 | g.27983425T>A | CA391359550 | OCA2 | c.1423A>T (p.Thr475Ser) c.1351A>T (p.Thr451Ser) c.1447A>T (p.Thr483Ser) c.1375A>T (p.Thr459Ser) c.1309A>T (p.Thr437Ser) n.2808A>T c.1252A>T (p.Thr418Ser) n.1536A>T | |
15 | g.27983425T>C | CA391359554 | OCA2 | c.1423A>G (p.Thr475Ala) c.1351A>G (p.Thr451Ala) c.1447A>G (p.Thr483Ala) c.1375A>G (p.Thr459Ala) c.1309A>G (p.Thr437Ala) n.2808A>G c.1252A>G (p.Thr418Ala) n.1536A>G | |
15 | g.27983425T>G | CA391359556 | OCA2 | c.1423A>C (p.Thr475Pro) c.1351A>C (p.Thr451Pro) c.1447A>C (p.Thr483Pro) c.1375A>C (p.Thr459Pro) c.1309A>C (p.Thr437Pro) n.2808A>C c.1252A>C (p.Thr418Pro) n.1536A>C | |
15 | g.27983426G>A | CA488958698 | OCA2 | c.1422C>T (p.Phe474=) c.1350C>T (p.Phe450=) c.1446C>T (p.Phe482=) c.1374C>T (p.Phe458=) c.1308C>T (p.Phe436=) n.2807C>T c.1251C>T (p.Phe417=) n.1535C>T | dbSNP COSMIC COSMIC |
15 | g.27983426G>C | CA391359557 | OCA2 | c.1422C>G (p.Phe474Leu) c.1350C>G (p.Phe450Leu) c.1446C>G (p.Phe482Leu) c.1374C>G (p.Phe458Leu) c.1308C>G (p.Phe436Leu) n.2807C>G c.1251C>G (p.Phe417Leu) n.1535C>G | |
15 | g.27983426G= | CA2166409988 | OCA2 | c.1422C= (p.Phe474=) c.1350C= (p.Phe450=) c.1446C= (p.Phe482=) c.1374C= (p.Phe458=) c.1308C= (p.Phe436=) n.2807C= c.1251C= (p.Phe417=) n.1535C= | |
15 | g.27983426G>T | CA391359558 | OCA2 | c.1422C>A (p.Phe474Leu) c.1350C>A (p.Phe450Leu) c.1446C>A (p.Phe482Leu) c.1374C>A (p.Phe458Leu) c.1308C>A (p.Phe436Leu) n.2807C>A c.1251C>A (p.Phe417Leu) n.1535C>A | |
15 | g.27983427A>C | CA391359566 | OCA2 | c.1421T>G (p.Phe474Cys) c.1349T>G (p.Phe450Cys) c.1445T>G (p.Phe482Cys) c.1373T>G (p.Phe458Cys) c.1307T>G (p.Phe436Cys) n.2806T>G c.1250T>G (p.Phe417Cys) n.1534T>G | |
15 | g.27983427A>G | CA391359568 | OCA2 | c.1421T>C (p.Phe474Ser) c.1349T>C (p.Phe450Ser) c.1445T>C (p.Phe482Ser) c.1373T>C (p.Phe458Ser) c.1307T>C (p.Phe436Ser) n.2806T>C c.1250T>C (p.Phe417Ser) n.1534T>C | |
15 | g.27983427A>T | CA391359570 | OCA2 | c.1421T>A (p.Phe474Tyr) c.1349T>A (p.Phe450Tyr) c.1445T>A (p.Phe482Tyr) c.1373T>A (p.Phe458Tyr) c.1307T>A (p.Phe436Tyr) n.2806T>A c.1250T>A (p.Phe417Tyr) n.1534T>A | |
15 | g.27983428A= | CA2166409989 | OCA2 | c.1420T= (p.Phe474=) c.1348T= (p.Phe450=) c.1444T= (p.Phe482=) c.1372T= (p.Phe458=) c.1306T= (p.Phe436=) n.2805T= c.1249T= (p.Phe417=) n.1533T= | |
15 | g.27983428A>C | CA391359578 | OCA2 | c.1420T>G (p.Phe474Val) c.1348T>G (p.Phe450Val) c.1444T>G (p.Phe482Val) c.1372T>G (p.Phe458Val) c.1306T>G (p.Phe436Val) n.2805T>G c.1249T>G (p.Phe417Val) n.1533T>G | COSMIC COSMIC |
15 | g.27983428A>G | CA391359574 | OCA2 | c.1420T>C (p.Phe474Leu) c.1348T>C (p.Phe450Leu) c.1444T>C (p.Phe482Leu) c.1372T>C (p.Phe458Leu) c.1306T>C (p.Phe436Leu) n.2805T>C c.1249T>C (p.Phe417Leu) n.1533T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983428A>T | CA391359576 | OCA2 | c.1420T>A (p.Phe474Ile) c.1348T>A (p.Phe450Ile) c.1444T>A (p.Phe482Ile) c.1372T>A (p.Phe458Ile) c.1306T>A (p.Phe436Ile) n.2805T>A c.1249T>A (p.Phe417Ile) n.1533T>A | |
15 | g.27983429G>A | CA488958699 | OCA2 | c.1419C>T (p.Ile473=) c.1347C>T (p.Ile449=) c.1443C>T (p.Ile481=) c.1371C>T (p.Ile457=) c.1305C>T (p.Ile435=) n.2804C>T c.1248C>T (p.Ile416=) n.1532C>T | |
15 | g.27983429G>C | CA391359579 | OCA2 | c.1419C>G (p.Ile473Met) c.1347C>G (p.Ile449Met) c.1443C>G (p.Ile481Met) c.1371C>G (p.Ile457Met) c.1305C>G (p.Ile435Met) n.2804C>G c.1248C>G (p.Ile416Met) n.1532C>G | |
15 | g.27983429G>T | CA488958700 | OCA2 | c.1419C>A (p.Ile473=) c.1347C>A (p.Ile449=) c.1443C>A (p.Ile481=) c.1371C>A (p.Ile457=) c.1305C>A (p.Ile435=) n.2804C>A c.1248C>A (p.Ile416=) n.1532C>A | |
15 | g.27983430A= | CA2166409990 | OCA2 | c.1418T= (p.Ile473=) c.1346T= (p.Ile449=) c.1442T= (p.Ile481=) c.1370T= (p.Ile457=) c.1304T= (p.Ile435=) n.2803T= c.1247T= (p.Ile416=) n.1531T= | |
15 | g.27983430A>C | CA391359580 | OCA2 | c.1418T>G (p.Ile473Ser) c.1346T>G (p.Ile449Ser) c.1442T>G (p.Ile481Ser) c.1370T>G (p.Ile457Ser) c.1304T>G (p.Ile435Ser) n.2803T>G c.1247T>G (p.Ile416Ser) n.1531T>G | ClinVar gnomAD v4 |
15 | g.27983430A>G | CA391359582 | OCA2 | c.1418T>C (p.Ile473Thr) c.1346T>C (p.Ile449Thr) c.1442T>C (p.Ile481Thr) c.1370T>C (p.Ile457Thr) c.1304T>C (p.Ile435Thr) n.2803T>C c.1247T>C (p.Ile416Thr) n.1531T>C | |
15 | g.27983430A>T | CA267890284 | OCA2 | c.1418T>A (p.Ile473Asn) c.1346T>A (p.Ile449Asn) c.1442T>A (p.Ile481Asn) c.1370T>A (p.Ile457Asn) c.1304T>A (p.Ile435Asn) n.2803T>A c.1247T>A (p.Ile416Asn) n.1531T>A | ClinVar dbSNP gnomAD v4 |
15 | g.27983431T>A | CA391359586 | OCA2 | c.1417A>T (p.Ile473Phe) c.1345A>T (p.Ile449Phe) c.1441A>T (p.Ile481Phe) c.1369A>T (p.Ile457Phe) c.1303A>T (p.Ile435Phe) n.2802A>T c.1246A>T (p.Ile416Phe) n.1530A>T | |
15 | g.27983431T>C | CA391359588 | OCA2 | c.1417A>G (p.Ile473Val) c.1345A>G (p.Ile449Val) c.1441A>G (p.Ile481Val) c.1369A>G (p.Ile457Val) c.1303A>G (p.Ile435Val) n.2802A>G c.1246A>G (p.Ile416Val) n.1530A>G | |
15 | g.27983431T>G | CA391359591 | OCA2 | c.1417A>C (p.Ile473Leu) c.1345A>C (p.Ile449Leu) c.1441A>C (p.Ile481Leu) c.1369A>C (p.Ile457Leu) c.1303A>C (p.Ile435Leu) n.2802A>C c.1246A>C (p.Ile416Leu) n.1530A>C | |
15 | g.27983432C>A | CA488958701 | OCA2 | c.1416G>T (p.Val472=) c.1344G>T (p.Val448=) c.1440G>T (p.Val480=) c.1368G>T (p.Val456=) c.1302G>T (p.Val434=) n.2801G>T c.1245G>T (p.Val415=) n.1529G>T | |
15 | g.27983432C= | CA2166409991 | OCA2 | c.1416G= (p.Val472=) c.1344G= (p.Val448=) c.1440G= (p.Val480=) c.1368G= (p.Val456=) c.1302G= (p.Val434=) n.2801G= c.1245G= (p.Val415=) n.1529G= | |
15 | g.27983432C>G | CA488958703 | OCA2 | c.1416G>C (p.Val472=) c.1344G>C (p.Val448=) c.1440G>C (p.Val480=) c.1368G>C (p.Val456=) c.1302G>C (p.Val434=) n.2801G>C c.1245G>C (p.Val415=) n.1529G>C | |
15 | g.27983432C>T | CA488958702 | OCA2 | c.1416G>A (p.Val472=) c.1344G>A (p.Val448=) c.1440G>A (p.Val480=) c.1368G>A (p.Val456=) c.1302G>A (p.Val434=) n.2801G>A c.1245G>A (p.Val415=) n.1529G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27983433A>C | CA391359593 | OCA2 | c.1415T>G (p.Val472Gly) c.1343T>G (p.Val448Gly) c.1439T>G (p.Val480Gly) c.1367T>G (p.Val456Gly) c.1301T>G (p.Val434Gly) n.2800T>G c.1244T>G (p.Val415Gly) n.1528T>G | |
15 | g.27983433A>G | CA391359594 | OCA2 | c.1415T>C (p.Val472Ala) c.1343T>C (p.Val448Ala) c.1439T>C (p.Val480Ala) c.1367T>C (p.Val456Ala) c.1301T>C (p.Val434Ala) n.2800T>C c.1244T>C (p.Val415Ala) n.1528T>C | |
15 | g.27983433A>T | CA391359595 | OCA2 | c.1415T>A (p.Val472Glu) c.1343T>A (p.Val448Glu) c.1439T>A (p.Val480Glu) c.1367T>A (p.Val456Glu) c.1301T>A (p.Val434Glu) n.2800T>A c.1244T>A (p.Val415Glu) n.1528T>A | COSMIC |
15 | g.27983434C>A | CA7439040 | OCA2 | c.1414G>T (p.Val472Leu) c.1342G>T (p.Val448Leu) c.1438G>T (p.Val480Leu) c.1366G>T (p.Val456Leu) c.1300G>T (p.Val434Leu) n.2799G>T c.1243G>T (p.Val415Leu) n.1527G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983434C= | CA2166409992 | OCA2 | c.1414G= (p.Val472=) c.1342G= (p.Val448=) c.1438G= (p.Val480=) c.1366G= (p.Val456=) c.1300G= (p.Val434=) n.2799G= c.1243G= (p.Val415=) n.1527G= | |
15 | g.27983434C>G | CA391359603 | OCA2 | c.1414G>C (p.Val472Leu) c.1342G>C (p.Val448Leu) c.1438G>C (p.Val480Leu) c.1366G>C (p.Val456Leu) c.1300G>C (p.Val434Leu) n.2799G>C c.1243G>C (p.Val415Leu) n.1527G>C | |
15 | g.27983434C>T | CA391359597 | OCA2 | c.1414G>A (p.Val472Met) c.1342G>A (p.Val448Met) c.1438G>A (p.Val480Met) c.1366G>A (p.Val456Met) c.1300G>A (p.Val434Met) n.2799G>A c.1243G>A (p.Val415Met) n.1527G>A | dbSNP |
15 | g.27983435T>A | CA391359605 | OCA2 | c.1413A>T (p.Glu471Asp) c.1341A>T (p.Glu447Asp) c.1437A>T (p.Glu479Asp) c.1365A>T (p.Glu455Asp) c.1299A>T (p.Glu433Asp) n.2798A>T c.1242A>T (p.Glu414Asp) n.1526A>T | |
15 | g.27983435T>C | CA488958704 | OCA2 | c.1413A>G (p.Glu471=) c.1341A>G (p.Glu447=) c.1437A>G (p.Glu479=) c.1365A>G (p.Glu455=) c.1299A>G (p.Glu433=) n.2798A>G c.1242A>G (p.Glu414=) n.1526A>G | |
15 | g.27983435T>G | CA391359606 | OCA2 | c.1413A>C (p.Glu471Asp) c.1341A>C (p.Glu447Asp) c.1437A>C (p.Glu479Asp) c.1365A>C (p.Glu455Asp) c.1299A>C (p.Glu433Asp) n.2798A>C c.1242A>C (p.Glu414Asp) n.1526A>C | COSMIC COSMIC |