| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |