Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.34399786_34399900del | CA2814215043 | GPI | c.1541+1_1542-1del c.1658+1_1659-1del c.1207+1_1208-1del c.1574+1_1575-1del n.2586+1_2587-1del c.*592+1_*593-1del n.2504_2618del n.1279+1_1280-1del c.1399-115_1399-1del (n.1399-115_1399-1del) c.1586+1_1587-1del c.193+3129_193+3243del c.1457+1_1458-1del c.1514+1_1515-1del | |
19 | g.34399894_34399895delinsCC | CA2580096797 | GPI | c.1542-7_1542-6delinsCC (n.1542-7_1542-6delinsCC) c.1659-7_1659-6delinsCC (n.1659-7_1659-6delinsCC) c.1208-7_1208-6delinsCC c.1575-7_1575-6delinsCC (n.1575-7_1575-6delinsCC) n.2587-7_2587-6delinsCC c.*593-7_*593-6delinsCC (n.*593-7_*593-6delinsCC) n.2612_2613delinsCC n.1280-7_1280-6delinsCC c.1399-7_1399-6delinsCC (n.1399-7_1399-6delinsCC) c.1587-7_1587-6delinsCC (n.1587-7_1587-6delinsCC) c.193+3237_193+3238delinsCC c.1458-7_1458-6delinsCC (n.1458-7_1458-6delinsCC) c.1515-7_1515-6delinsCC (n.1515-7_1515-6delinsCC) | ClinVar dbSNP |
19 | g.34399895T>C | CA2333177880 | GPI | c.1542-6T>C (n.1542-6T>C) c.1659-6T>C (n.1659-6T>C) c.1208-6T>C c.1575-6T>C (n.1575-6T>C) n.2587-6T>C c.*593-6T>C (n.*593-6T>C) n.2613T>C n.1280-6T>C c.1399-6T>C (n.1399-6T>C) c.1587-6T>C (n.1587-6T>C) c.193+3238T>C c.1458-6T>C (n.1458-6T>C) c.1515-6T>C (n.1515-6T>C) | dbSNP |
19 | g.34399895T= | CA2333177879 | GPI | c.1542-6T= (n.1542-6T=) c.1659-6T= (n.1659-6T=) c.1208-6T= c.1575-6T= (n.1575-6T=) n.2587-6T= c.*593-6T= (n.*593-6T=) n.2613T= n.1280-6T= c.1399-6T= (n.1399-6T=) c.1587-6T= (n.1587-6T=) c.193+3238T= c.1458-6T= (n.1458-6T=) c.1515-6T= (n.1515-6T=) | |
19 | g.34399898C= | CA2333177881 | GPI | c.1542-3C= (n.1542-3C=) c.1659-3C= (n.1659-3C=) c.1208-3C= c.1575-3C= (n.1575-3C=) n.2587-3C= c.*593-3C= (n.*593-3C=) n.2616C= n.1280-3C= c.1399-3C= (n.1399-3C=) c.1587-3C= (n.1587-3C=) c.193+3241C= c.1458-3C= (n.1458-3C=) c.1515-3C= (n.1515-3C=) | |
19 | g.34399898C>T | CA307634701 | GPI | c.1542-3C>T (n.1542-3C>T) c.1659-3C>T (n.1659-3C>T) c.1208-3C>T c.1575-3C>T (n.1575-3C>T) n.2587-3C>T c.*593-3C>T (n.*593-3C>T) n.2616C>T n.1280-3C>T c.1399-3C>T (n.1399-3C>T) c.1587-3C>T (n.1587-3C>T) c.193+3241C>T c.1458-3C>T (n.1458-3C>T) c.1515-3C>T (n.1515-3C>T) | dbSNP gnomAD v4 |
19 | g.34399899A= | CA2333177882 | GPI | c.1542-2A= (n.1542-2A=) c.1659-2A= (n.1659-2A=) c.1208-2A= c.1575-2A= (n.1575-2A=) n.2587-2A= c.*593-2A= (n.*593-2A=) n.2617A= n.1280-2A= c.1399-2A= (n.1399-2A=) c.1587-2A= (n.1587-2A=) c.193+3242A= c.1458-2A= (n.1458-2A=) c.1515-2A= (n.1515-2A=) | |
19 | g.34399899A>C | CA405246551 | GPI | c.1542-2A>C (n.1542-2A>C) c.1659-2A>C (n.1659-2A>C) c.1208-2A>C c.1575-2A>C (n.1575-2A>C) n.2587-2A>C c.*593-2A>C (n.*593-2A>C) n.2617A>C n.1280-2A>C c.1399-2A>C (n.1399-2A>C) c.1587-2A>C (n.1587-2A>C) c.193+3242A>C c.1458-2A>C (n.1458-2A>C) c.1515-2A>C (n.1515-2A>C) | |
19 | g.34399899A>G | CA405246552 | GPI | c.1542-2A>G (n.1542-2A>G) c.1659-2A>G (n.1659-2A>G) c.1208-2A>G c.1575-2A>G (n.1575-2A>G) n.2587-2A>G c.*593-2A>G (n.*593-2A>G) n.2617A>G n.1280-2A>G c.1399-2A>G (n.1399-2A>G) c.1587-2A>G (n.1587-2A>G) c.193+3242A>G c.1458-2A>G (n.1458-2A>G) c.1515-2A>G (n.1515-2A>G) | |
19 | g.34399899A>T | CA307634703 | GPI | c.1542-2A>T (n.1542-2A>T) c.1659-2A>T (n.1659-2A>T) c.1208-2A>T c.1575-2A>T (n.1575-2A>T) n.2587-2A>T c.*593-2A>T (n.*593-2A>T) n.2617A>T n.1280-2A>T c.1399-2A>T (n.1399-2A>T) c.1587-2A>T (n.1587-2A>T) c.193+3242A>T c.1458-2A>T (n.1458-2A>T) c.1515-2A>T (n.1515-2A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399900G>A | CA405246555 | GPI | c.1542-1G>A (n.1542-1G>A) c.1659-1G>A (n.1659-1G>A) c.1208-1G>A c.1575-1G>A (n.1575-1G>A) n.2587-1G>A c.*593-1G>A (n.*593-1G>A) n.2618G>A n.1280-1G>A c.1399-1G>A (n.1399-1G>A) c.1587-1G>A (n.1587-1G>A) c.193+3243G>A c.1458-1G>A (n.1458-1G>A) c.1515-1G>A (n.1515-1G>A) | gnomAD v4 |
19 | g.34399900G>C | CA405246554 | GPI | c.1542-1G>C (n.1542-1G>C) c.1659-1G>C (n.1659-1G>C) c.1208-1G>C c.1575-1G>C (n.1575-1G>C) n.2587-1G>C c.*593-1G>C (n.*593-1G>C) n.2618G>C n.1280-1G>C c.1399-1G>C (n.1399-1G>C) c.1587-1G>C (n.1587-1G>C) c.193+3243G>C c.1458-1G>C (n.1458-1G>C) c.1515-1G>C (n.1515-1G>C) | gnomAD v4 |
19 | g.34399900G>T | CA405246553 | GPI | c.1542-1G>T (n.1542-1G>T) c.1659-1G>T (n.1659-1G>T) c.1208-1G>T c.1575-1G>T (n.1575-1G>T) n.2587-1G>T c.*593-1G>T (n.*593-1G>T) n.2618G>T n.1280-1G>T c.1399-1G>T (n.1399-1G>T) c.1587-1G>T (n.1587-1G>T) c.193+3243G>T c.1458-1G>T (n.1458-1G>T) c.1515-1G>T (n.1515-1G>T) | |
19 | g.34399901A>C | CA405246556 | GPI | c.1542A>C (p.Gly514=) c.1659A>C (p.Gly553=) c.1208A>C c.1575A>C (p.Gly525=) n.2587A>C c.*593A>C (n.*593A>C) n.2619A>C n.1280A>C c.1399A>C (p.Ser467Arg) c.1587A>C (p.Gly529=) c.193+3244A>C c.1458A>C (p.Gly486=) c.1515A>C (p.Gly505=) | |
19 | g.34399901A>G | CA405246557 | GPI | c.1542A>G (p.Gly514=) c.1659A>G (p.Gly553=) c.1208A>G c.1575A>G (p.Gly525=) n.2587A>G c.*593A>G (n.*593A>G) n.2619A>G n.1280A>G c.1399A>G (p.Ser467Gly) c.1587A>G (p.Gly529=) c.193+3244A>G c.1458A>G (p.Gly486=) c.1515A>G (p.Gly505=) | gnomAD v4 |
19 | g.34399901A>T | CA405246558 | GPI | c.1542A>T (p.Gly514=) c.1659A>T (p.Gly553=) c.1208A>T c.1575A>T (p.Gly525=) n.2587A>T c.*593A>T (n.*593A>T) n.2619A>T n.1280A>T c.1399A>T (p.Ser467Cys) c.1587A>T (p.Gly529=) c.193+3244A>T c.1458A>T (p.Gly486=) c.1515A>T (p.Gly505=) | |
19 | g.34399902G>A | CA405246559 | GPI | c.1543G>A (p.Val515Met) c.1660G>A (p.Val554Met) c.1209G>A c.1576G>A (p.Val526Met) n.2588G>A c.*594G>A (n.*594G>A) n.2620G>A n.1281G>A c.1400G>A (p.Ser467Asn) c.1588G>A (p.Val530Met) c.193+3245G>A c.1459G>A (p.Val487Met) c.1516G>A (p.Val506Met) | |
19 | g.34399902G>C | CA405246560 | GPI | c.1543G>C (p.Val515Leu) c.1660G>C (p.Val554Leu) c.1209G>C c.1576G>C (p.Val526Leu) n.2588G>C c.*594G>C (n.*594G>C) n.2620G>C n.1281G>C c.1400G>C (p.Ser467Thr) c.1588G>C (p.Val530Leu) c.193+3245G>C c.1459G>C (p.Val487Leu) c.1516G>C (p.Val506Leu) | |
19 | g.34399902G>T | CA405246561 | GPI | c.1543G>T (p.Val515Leu) c.1660G>T (p.Val554Leu) c.1209G>T c.1576G>T (p.Val526Leu) n.2588G>T c.*594G>T (n.*594G>T) n.2620G>T n.1281G>T c.1400G>T (p.Ser467Ile) c.1588G>T (p.Val530Leu) c.193+3245G>T c.1459G>T (p.Val487Leu) c.1516G>T (p.Val506Leu) | |
19 | g.34399903_34399904del | CA2576748693 | GPI | c.1544_1545del (p.Val515GlyfsTer8) c.1661_1662del (p.Val554GlyfsTer8) c.1210_1211del c.1577_1578del (p.Val526GlyfsTer8) n.2589_2590del c.*595_*596del (n.*595_*596del) n.2621_2622del n.1282_1283del c.1401_1402del (p.Ser467ArgfsTer11) c.1589_1590del (p.Val530GlyfsTer8) c.193+3246_193+3247del c.1460_1461del (p.Val487GlyfsTer8) c.1517_1518del (p.Val506GlyfsTer8) | gnomAD v4 |
19 | g.34399903T>A | CA405246562 | GPI | c.1544T>A (p.Val515Glu) c.1661T>A (p.Val554Glu) c.1210T>A c.1577T>A (p.Val526Glu) n.2589T>A c.*595T>A (n.*595T>A) n.2621T>A n.1282T>A c.1401T>A (p.Ser467Arg) c.1589T>A (p.Val530Glu) c.193+3246T>A c.1460T>A (p.Val487Glu) c.1517T>A (p.Val506Glu) | |
19 | g.34399903T>C | CA405246563 | GPI | c.1544T>C (p.Val515Ala) c.1661T>C (p.Val554Ala) c.1210T>C c.1577T>C (p.Val526Ala) n.2589T>C c.*595T>C (n.*595T>C) n.2621T>C n.1282T>C c.1401T>C (p.Ser467=) c.1589T>C (p.Val530Ala) c.193+3246T>C c.1460T>C (p.Val487Ala) c.1517T>C (p.Val506Ala) | |
19 | g.34399903T>G | CA405246564 | GPI | c.1544T>G (p.Val515Gly) c.1661T>G (p.Val554Gly) c.1210T>G c.1577T>G (p.Val526Gly) n.2589T>G c.*595T>G (n.*595T>G) n.2621T>G n.1282T>G c.1401T>G (p.Ser467Arg) c.1589T>G (p.Val530Gly) c.193+3246T>G c.1460T>G (p.Val487Gly) c.1517T>G (p.Val506Gly) | |
19 | g.34399904G>A | CA307634711 | GPI | c.1545G>A (p.Val515=) c.1662G>A (p.Val554=) c.1211G>A c.1578G>A (p.Val526=) n.2590G>A c.*596G>A (n.*596G>A) n.2622G>A n.1283G>A c.1402G>A (p.Gly468Arg) c.1590G>A (p.Val530=) c.193+3247G>A c.1461G>A (p.Val487=) c.1518G>A (p.Val506=) | dbSNP |
19 | g.34399904G>C | CA405246565 | GPI | c.1545G>C (p.Val515=) c.1662G>C (p.Val554=) c.1211G>C c.1578G>C (p.Val526=) n.2590G>C c.*596G>C (n.*596G>C) n.2622G>C n.1283G>C c.1402G>C (p.Gly468Arg) c.1590G>C (p.Val530=) c.193+3247G>C c.1461G>C (p.Val487=) c.1518G>C (p.Val506=) | |
19 | g.34399904G= | CA2333177883 | GPI | c.1545G= (p.Val515=) c.1662G= (p.Val554=) c.1211G= c.1578G= (p.Val526=) n.2590G= c.*596G= (n.*596G=) n.2622G= n.1283G= c.1402G= (p.Gly468=) c.1590G= (p.Val530=) c.193+3247G= c.1461G= (p.Val487=) c.1518G= (p.Val506=) | |
19 | g.34399904G>T | CA405246566 | GPI | c.1545G>T (p.Val515=) c.1662G>T (p.Val554=) c.1211G>T c.1578G>T (p.Val526=) n.2590G>T c.*596G>T (n.*596G>T) n.2622G>T n.1283G>T c.1402G>T (p.Gly468Ter) c.1590G>T (p.Val530=) c.193+3247G>T c.1461G>T (p.Val487=) c.1518G>T (p.Val506=) | |
19 | g.34399905G>A | CA405246569 | GPI | c.1546G>A (p.Glu516Lys) c.1663G>A (p.Glu555Lys) c.1212G>A c.1579G>A (p.Glu527Lys) n.2591G>A c.*597G>A (n.*597G>A) n.2623G>A n.1284G>A c.1403G>A (p.Gly468Glu) c.1591G>A (p.Glu531Lys) c.193+3248G>A c.1462G>A (p.Glu488Lys) c.1519G>A (p.Glu507Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.34399905G>C | CA405246568 | GPI | c.1546G>C (p.Glu516Gln) c.1663G>C (p.Glu555Gln) c.1212G>C c.1579G>C (p.Glu527Gln) n.2591G>C c.*597G>C (n.*597G>C) n.2623G>C n.1284G>C c.1403G>C (p.Gly468Ala) c.1591G>C (p.Glu531Gln) c.193+3248G>C c.1462G>C (p.Glu488Gln) c.1519G>C (p.Glu507Gln) | gnomAD v4 |
19 | g.34399905G= | CA2333177884 | GPI | c.1546G= (p.Glu516=) c.1663G= (p.Glu555=) c.1212G= c.1579G= (p.Glu527=) n.2591G= c.*597G= (n.*597G=) n.2623G= n.1284G= c.1403G= (p.Gly468=) c.1591G= (p.Glu531=) c.193+3248G= c.1462G= (p.Glu488=) c.1519G= (p.Glu507=) | |
19 | g.34399905G>T | CA405246567 | GPI | c.1546G>T (p.Glu516Ter) c.1663G>T (p.Glu555Ter) c.1212G>T c.1579G>T (p.Glu527Ter) n.2591G>T c.*597G>T (n.*597G>T) n.2623G>T n.1284G>T c.1403G>T (p.Gly468Val) c.1591G>T (p.Glu531Ter) c.193+3248G>T c.1462G>T (p.Glu488Ter) c.1519G>T (p.Glu507Ter) | |
19 | g.34399906A>C | CA405246570 | GPI | c.1547A>C (p.Glu516Ala) c.1664A>C (p.Glu555Ala) c.1213A>C c.1580A>C (p.Glu527Ala) n.2592A>C c.*598A>C (n.*598A>C) n.2624A>C n.1285A>C c.1404A>C (p.Gly468=) c.1592A>C (p.Glu531Ala) c.193+3249A>C c.1463A>C (p.Glu488Ala) c.1520A>C (p.Glu507Ala) | |
19 | g.34399906A>G | CA405246571 | GPI | c.1547A>G (p.Glu516Gly) c.1664A>G (p.Glu555Gly) c.1213A>G c.1580A>G (p.Glu527Gly) n.2592A>G c.*598A>G (n.*598A>G) n.2624A>G n.1285A>G c.1404A>G (p.Gly468=) c.1592A>G (p.Glu531Gly) c.193+3249A>G c.1463A>G (p.Glu488Gly) c.1520A>G (p.Glu507Gly) | |
19 | g.34399906A>T | CA405246572 | GPI | c.1547A>T (p.Glu516Val) c.1664A>T (p.Glu555Val) c.1213A>T c.1580A>T (p.Glu527Val) n.2592A>T c.*598A>T (n.*598A>T) n.2624A>T n.1285A>T c.1404A>T (p.Gly468=) c.1592A>T (p.Glu531Val) c.193+3249A>T c.1463A>T (p.Glu488Val) c.1520A>T (p.Glu507Val) | |
19 | g.34399907G>A | CA405246573 | GPI | c.1548G>A (p.Glu516=) c.1665G>A (p.Glu555=) c.1214G>A c.1581G>A (p.Glu527=) n.2593G>A c.*599G>A (n.*599G>A) n.2625G>A n.1286G>A c.1405G>A (p.Ala469Thr) c.1593G>A (p.Glu531=) c.193+3250G>A c.1464G>A (p.Glu488=) c.1521G>A (p.Glu507=) | gnomAD v4 |
19 | g.34399907G>C | CA405246574 | GPI | c.1548G>C (p.Glu516Asp) c.1665G>C (p.Glu555Asp) c.1214G>C c.1581G>C (p.Glu527Asp) n.2593G>C c.*599G>C (n.*599G>C) n.2625G>C n.1286G>C c.1405G>C (p.Ala469Pro) c.1593G>C (p.Glu531Asp) c.193+3250G>C c.1464G>C (p.Glu488Asp) c.1521G>C (p.Glu507Asp) | |
19 | g.34399907G>T | CA405246575 | GPI | c.1548G>T (p.Glu516Asp) c.1665G>T (p.Glu555Asp) c.1214G>T c.1581G>T (p.Glu527Asp) n.2593G>T c.*599G>T (n.*599G>T) n.2625G>T n.1286G>T c.1405G>T (p.Ala469Ser) c.1593G>T (p.Glu531Asp) c.193+3250G>T c.1464G>T (p.Glu488Asp) c.1521G>T (p.Glu507Asp) | |
19 | g.34399908C>A | CA405246577 | GPI | c.1549C>A (p.Leu517Met) c.1666C>A (p.Leu556Met) c.1215C>A c.1582C>A (p.Leu528Met) n.2594C>A c.*600C>A (n.*600C>A) n.2626C>A n.1287C>A c.1406C>A (p.Ala469Asp) c.1594C>A (p.Leu532Met) c.193+3251C>A c.1465C>A (p.Leu489Met) c.1522C>A (p.Leu508Met) | |
19 | g.34399908C= | CA2333177885 | GPI | c.1549C= (p.Leu517=) c.1666C= (p.Leu556=) c.1215C= c.1582C= (p.Leu528=) n.2594C= c.*600C= (n.*600C=) n.2626C= n.1287C= c.1406C= (p.Ala469=) c.1594C= (p.Leu532=) c.193+3251C= c.1465C= (p.Leu489=) c.1522C= (p.Leu508=) | |
19 | g.34399908C>G | CA405246576 | GPI | c.1549C>G (p.Leu517Val) c.1666C>G (p.Leu556Val) c.1215C>G c.1582C>G (p.Leu528Val) n.2594C>G c.*600C>G (n.*600C>G) n.2626C>G n.1287C>G c.1406C>G (p.Ala469Gly) c.1594C>G (p.Leu532Val) c.193+3251C>G c.1465C>G (p.Leu489Val) c.1522C>G (p.Leu508Val) | gnomAD v4 |
19 | g.34399908C>T | CA307634720 | GPI | c.1549C>T (p.Leu517=) c.1666C>T (p.Leu556=) c.1215C>T c.1582C>T (p.Leu528=) n.2594C>T c.*600C>T (n.*600C>T) n.2626C>T n.1287C>T c.1406C>T (p.Ala469Val) c.1594C>T (p.Leu532=) c.193+3251C>T c.1465C>T (p.Leu489=) c.1522C>T (p.Leu508=) | dbSNP gnomAD v4 |
19 | g.34399909T>A | CA405246578 | GPI | c.1550T>A (p.Leu517Gln) c.1667T>A (p.Leu556Gln) c.1216T>A c.1583T>A (p.Leu528Gln) n.2595T>A c.*601T>A (n.*601T>A) n.2627T>A n.1288T>A c.1407T>A (p.Ala469=) c.1595T>A (p.Leu532Gln) c.193+3252T>A c.1466T>A (p.Leu489Gln) c.1523T>A (p.Leu508Gln) | |
19 | g.34399909T>C | CA405246579 | GPI | c.1550T>C (p.Leu517Pro) c.1667T>C (p.Leu556Pro) c.1216T>C c.1583T>C (p.Leu528Pro) n.2595T>C c.*601T>C (n.*601T>C) n.2627T>C n.1288T>C c.1407T>C (p.Ala469=) c.1595T>C (p.Leu532Pro) c.193+3252T>C c.1466T>C (p.Leu489Pro) c.1523T>C (p.Leu508Pro) | |
19 | g.34399909T>G | CA405246580 | GPI | c.1550T>G (p.Leu517Arg) c.1667T>G (p.Leu556Arg) c.1216T>G c.1583T>G (p.Leu528Arg) n.2595T>G c.*601T>G (n.*601T>G) n.2627T>G n.1288T>G c.1407T>G (p.Ala469=) c.1595T>G (p.Leu532Arg) c.193+3252T>G c.1466T>G (p.Leu489Arg) c.1523T>G (p.Leu508Arg) | |
19 | g.34399910G>A | CA405246581 | GPI | c.1551G>A (p.Leu517=) c.1668G>A (p.Leu556=) c.1217G>A c.1584G>A (p.Leu528=) n.2596G>A c.*602G>A (n.*602G>A) n.2628G>A n.1289G>A c.1408G>A (p.Gly470Arg) c.1596G>A (p.Leu532=) c.193+3253G>A c.1467G>A (p.Leu489=) c.1524G>A (p.Leu508=) | |
19 | g.34399910G>C | CA405246582 | GPI | c.1551G>C (p.Leu517=) c.1668G>C (p.Leu556=) c.1217G>C c.1584G>C (p.Leu528=) n.2596G>C c.*602G>C (n.*602G>C) n.2628G>C n.1289G>C c.1408G>C (p.Gly470Arg) c.1596G>C (p.Leu532=) c.193+3253G>C c.1467G>C (p.Leu489=) c.1524G>C (p.Leu508=) | |
19 | g.34399910G>T | CA405246583 | GPI | c.1551G>T (p.Leu517=) c.1668G>T (p.Leu556=) c.1217G>T c.1584G>T (p.Leu528=) n.2596G>T c.*602G>T (n.*602G>T) n.2628G>T n.1289G>T c.1408G>T (p.Gly470Trp) c.1596G>T (p.Leu532=) c.193+3253G>T c.1467G>T (p.Leu489=) c.1524G>T (p.Leu508=) | |
19 | g.34399911G>A | CA405246584 | GPI | c.1552G>A (p.Gly518Arg) c.1669G>A (p.Gly557Arg) c.1218G>A c.1585G>A (p.Gly529Arg) n.2597G>A c.*603G>A (n.*603G>A) n.2629G>A n.1290G>A c.1409G>A (p.Gly470Glu) c.1597G>A (p.Gly533Arg) c.193+3254G>A c.1468G>A (p.Gly490Arg) c.1525G>A (p.Gly509Arg) | |
19 | g.34399911G>C | CA405246586 | GPI | c.1552G>C (p.Gly518Arg) c.1669G>C (p.Gly557Arg) c.1218G>C c.1585G>C (p.Gly529Arg) n.2597G>C c.*603G>C (n.*603G>C) n.2629G>C n.1290G>C c.1409G>C (p.Gly470Ala) c.1597G>C (p.Gly533Arg) c.193+3254G>C c.1468G>C (p.Gly490Arg) c.1525G>C (p.Gly509Arg) | |
19 | g.34399911G>T | CA405246585 | GPI | c.1552G>T (p.Gly518Ter) c.1669G>T (p.Gly557Ter) c.1218G>T c.1585G>T (p.Gly529Ter) n.2597G>T c.*603G>T (n.*603G>T) n.2629G>T n.1290G>T c.1409G>T (p.Gly470Val) c.1597G>T (p.Gly533Ter) c.193+3254G>T c.1468G>T (p.Gly490Ter) c.1525G>T (p.Gly509Ter) | |
19 | g.34399912G>A | CA405246587 | GPI | c.1553G>A (p.Gly518Glu) c.1670G>A (p.Gly557Glu) c.1219G>A c.1586G>A (p.Gly529Glu) n.2598G>A c.*604G>A (n.*604G>A) n.2630G>A n.1291G>A c.1410G>A (p.Gly470=) c.1598G>A (p.Gly533Glu) c.193+3255G>A c.1469G>A (p.Gly490Glu) c.1526G>A (p.Gly509Glu) | |
19 | g.34399912G>C | CA405246588 | GPI | c.1553G>C (p.Gly518Ala) c.1670G>C (p.Gly557Ala) c.1219G>C c.1586G>C (p.Gly529Ala) n.2598G>C c.*604G>C (n.*604G>C) n.2630G>C n.1291G>C c.1410G>C (p.Gly470=) c.1598G>C (p.Gly533Ala) c.193+3255G>C c.1469G>C (p.Gly490Ala) c.1526G>C (p.Gly509Ala) | gnomAD v4 |
19 | g.34399912G>T | CA405246589 | GPI | c.1553G>T (p.Gly518Val) c.1670G>T (p.Gly557Val) c.1219G>T c.1586G>T (p.Gly529Val) n.2598G>T c.*604G>T (n.*604G>T) n.2630G>T n.1291G>T c.1410G>T (p.Gly470=) c.1598G>T (p.Gly533Val) c.193+3255G>T c.1469G>T (p.Gly490Val) c.1526G>T (p.Gly509Val) | |
19 | g.34399913A= | CA2333177886 | GPI | c.1554A= (p.Gly518=) c.1671A= (p.Gly557=) c.1220A= c.1587A= (p.Gly529=) n.2599A= c.*605A= (n.*605A=) n.2631A= n.1292A= c.1411A= (p.Lys471=) c.1599A= (p.Gly533=) c.193+3256A= c.1470A= (p.Gly490=) c.1527A= (p.Gly509=) | |
19 | g.34399913A>C | CA405246590 | GPI | c.1554A>C (p.Gly518=) c.1671A>C (p.Gly557=) c.1220A>C c.1587A>C (p.Gly529=) n.2599A>C c.*605A>C (n.*605A>C) n.2631A>C n.1292A>C c.1411A>C (p.Lys471Gln) c.1599A>C (p.Gly533=) c.193+3256A>C c.1470A>C (p.Gly490=) c.1527A>C (p.Gly509=) | |
19 | g.34399913A>G | CA405246591 | GPI | c.1554A>G (p.Gly518=) c.1671A>G (p.Gly557=) c.1220A>G c.1587A>G (p.Gly529=) n.2599A>G c.*605A>G (n.*605A>G) n.2631A>G n.1292A>G c.1411A>G (p.Lys471Glu) c.1599A>G (p.Gly533=) c.193+3256A>G c.1470A>G (p.Gly490=) c.1527A>G (p.Gly509=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399913A>T | CA405246592 | GPI | c.1554A>T (p.Gly518=) c.1671A>T (p.Gly557=) c.1220A>T c.1587A>T (p.Gly529=) n.2599A>T c.*605A>T (n.*605A>T) n.2631A>T n.1292A>T c.1411A>T (p.Lys471Ter) c.1599A>T (p.Gly533=) c.193+3256A>T c.1470A>T (p.Gly490=) c.1527A>T (p.Gly509=) | |
19 | g.34399914A>C | CA405246593 | GPI | c.1555A>C (p.Lys519Gln) c.1672A>C (p.Lys558Gln) c.1221A>C c.1588A>C (p.Lys530Gln) n.2600A>C c.*606A>C (n.*606A>C) n.2632A>C n.1293A>C c.1412A>C (p.Lys471Thr) c.1600A>C (p.Lys534Gln) c.193+3257A>C c.1471A>C (p.Lys491Gln) c.1528A>C (p.Lys510Gln) | |
19 | g.34399914A>G | CA405246594 | GPI | c.1555A>G (p.Lys519Glu) c.1672A>G (p.Lys558Glu) c.1221A>G c.1588A>G (p.Lys530Glu) n.2600A>G c.*606A>G (n.*606A>G) n.2632A>G n.1293A>G c.1412A>G (p.Lys471Arg) c.1600A>G (p.Lys534Glu) c.193+3257A>G c.1471A>G (p.Lys491Glu) c.1528A>G (p.Lys510Glu) | |
19 | g.34399914A>T | CA405246595 | GPI | c.1555A>T (p.Lys519Ter) c.1672A>T (p.Lys558Ter) c.1221A>T c.1588A>T (p.Lys530Ter) n.2600A>T c.*606A>T (n.*606A>T) n.2632A>T n.1293A>T c.1412A>T (p.Lys471Ile) c.1600A>T (p.Lys534Ter) c.193+3257A>T c.1471A>T (p.Lys491Ter) c.1528A>T (p.Lys510Ter) | |
19 | g.34399915A>C | CA405246596 | GPI | c.1556A>C (p.Lys519Thr) c.1673A>C (p.Lys558Thr) c.1222A>C c.1589A>C (p.Lys530Thr) n.2601A>C c.*607A>C (n.*607A>C) n.2633A>C n.1294A>C c.1413A>C (p.Lys471Asn) c.1601A>C (p.Lys534Thr) c.193+3258A>C c.1472A>C (p.Lys491Thr) c.1529A>C (p.Lys510Thr) | |
19 | g.34399915A>G | CA405246597 | GPI | c.1556A>G (p.Lys519Arg) c.1673A>G (p.Lys558Arg) c.1222A>G c.1589A>G (p.Lys530Arg) n.2601A>G c.*607A>G (n.*607A>G) n.2633A>G n.1294A>G c.1413A>G (p.Lys471=) c.1601A>G (p.Lys534Arg) c.193+3258A>G c.1472A>G (p.Lys491Arg) c.1529A>G (p.Lys510Arg) | |
19 | g.34399915A>T | CA405246598 | GPI | c.1556A>T (p.Lys519Met) c.1673A>T (p.Lys558Met) c.1222A>T c.1589A>T (p.Lys530Met) n.2601A>T c.*607A>T (n.*607A>T) n.2633A>T n.1294A>T c.1413A>T (p.Lys471Asn) c.1601A>T (p.Lys534Met) c.193+3258A>T c.1472A>T (p.Lys491Met) c.1529A>T (p.Lys510Met) | |
19 | g.34399916G>A | CA405246599 | GPI | c.1557G>A (p.Lys519=) c.1674G>A (p.Lys558=) c.1223G>A c.1590G>A (p.Lys530=) n.2602G>A c.*608G>A (n.*608G>A) n.2634G>A n.1295G>A c.1414G>A (p.Ala472Thr) c.1602G>A (p.Lys534=) c.193+3259G>A c.1473G>A (p.Lys491=) c.1530G>A (p.Lys510=) | |
19 | g.34399916G>C | CA405246601 | GPI | c.1557G>C (p.Lys519Asn) c.1674G>C (p.Lys558Asn) c.1223G>C c.1590G>C (p.Lys530Asn) n.2602G>C c.*608G>C (n.*608G>C) n.2634G>C n.1295G>C c.1414G>C (p.Ala472Pro) c.1602G>C (p.Lys534Asn) c.193+3259G>C c.1473G>C (p.Lys491Asn) c.1530G>C (p.Lys510Asn) | |
19 | g.34399916G>T | CA405246600 | GPI | c.1557G>T (p.Lys519Asn) c.1674G>T (p.Lys558Asn) c.1223G>T c.1590G>T (p.Lys530Asn) n.2602G>T c.*608G>T (n.*608G>T) n.2634G>T n.1295G>T c.1414G>T (p.Ala472Ser) c.1602G>T (p.Lys534Asn) c.193+3259G>T c.1473G>T (p.Lys491Asn) c.1530G>T (p.Lys510Asn) | |
19 | g.34399917C>A | CA405246602 | GPI | c.1558C>A (p.Gln520Lys) c.1675C>A (p.Gln559Lys) c.1224C>A c.1591C>A (p.Gln531Lys) n.2603C>A c.*609C>A (n.*609C>A) n.2635C>A n.1296C>A c.1415C>A (p.Ala472Glu) c.1603C>A (p.Gln535Lys) c.193+3260C>A c.1474C>A (p.Gln492Lys) c.1531C>A (p.Gln511Lys) | |
19 | g.34399917C= | CA2333177887 | GPI | c.1558C= (p.Gln520=) c.1675C= (p.Gln559=) c.1224C= c.1591C= (p.Gln531=) n.2603C= c.*609C= (n.*609C=) n.2635C= n.1296C= c.1415C= (p.Ala472=) c.1603C= (p.Gln535=) c.193+3260C= c.1474C= (p.Gln492=) c.1531C= (p.Gln511=) | |
19 | g.34399917C>G | CA405246603 | GPI | c.1558C>G (p.Gln520Glu) c.1675C>G (p.Gln559Glu) c.1224C>G c.1591C>G (p.Gln531Glu) n.2603C>G c.*609C>G (n.*609C>G) n.2635C>G n.1296C>G c.1415C>G (p.Ala472Gly) c.1603C>G (p.Gln535Glu) c.193+3260C>G c.1474C>G (p.Gln492Glu) c.1531C>G (p.Gln511Glu) | |
19 | g.34399917C>T | CA405246604 | GPI | c.1558C>T (p.Gln520Ter) c.1675C>T (p.Gln559Ter) c.1224C>T c.1591C>T (p.Gln531Ter) n.2603C>T c.*609C>T (n.*609C>T) n.2635C>T n.1296C>T c.1415C>T (p.Ala472Val) c.1603C>T (p.Gln535Ter) c.193+3260C>T c.1474C>T (p.Gln492Ter) c.1531C>T (p.Gln511Ter) | dbSNP |
19 | g.34399917dup | CA2584357521 | GPI | c.1558dup (p.Gln520ProfsTer4) c.1675dup (p.Gln559ProfsTer4) c.1224dup c.1591dup (p.Gln531ProfsTer4) n.2603dup c.*609dup (n.*609dup) n.2635dup n.1296dup c.1415dup (p.Ala473SerfsTer6) c.1603dup (p.Gln535ProfsTer4) c.193+3260dup c.1474dup (p.Gln492ProfsTer4) c.1531dup (p.Gln511ProfsTer4) | gnomAD v4 |
19 | g.34399918A>C | CA405246605 | GPI | c.1559A>C (p.Gln520Pro) c.1676A>C (p.Gln559Pro) c.1225A>C c.1592A>C (p.Gln531Pro) n.2604A>C c.*610A>C (n.*610A>C) n.2636A>C n.1297A>C c.1416A>C (p.Ala472=) c.1604A>C (p.Gln535Pro) c.193+3261A>C c.1475A>C (p.Gln492Pro) c.1532A>C (p.Gln511Pro) | |
19 | g.34399918A>G | CA405246606 | GPI | c.1559A>G (p.Gln520Arg) c.1676A>G (p.Gln559Arg) c.1225A>G c.1592A>G (p.Gln531Arg) n.2604A>G c.*610A>G (n.*610A>G) n.2636A>G n.1297A>G c.1416A>G (p.Ala472=) c.1604A>G (p.Gln535Arg) c.193+3261A>G c.1475A>G (p.Gln492Arg) c.1532A>G (p.Gln511Arg) | |
19 | g.34399918A>T | CA405246607 | GPI | c.1559A>T (p.Gln520Leu) c.1676A>T (p.Gln559Leu) c.1225A>T c.1592A>T (p.Gln531Leu) n.2604A>T c.*610A>T (n.*610A>T) n.2636A>T n.1297A>T c.1416A>T (p.Ala472=) c.1604A>T (p.Gln535Leu) c.193+3261A>T c.1475A>T (p.Gln492Leu) c.1532A>T (p.Gln511Leu) | |
19 | g.34399919G>A | CA405246608 | GPI | c.1560G>A (p.Gln520=) c.1677G>A (p.Gln559=) c.1226G>A c.1593G>A (p.Gln531=) n.2605G>A c.*611G>A (n.*611G>A) n.2637G>A n.1298G>A c.1417G>A (p.Ala473Thr) c.1605G>A (p.Gln535=) c.193+3262G>A c.1476G>A (p.Gln492=) c.1533G>A (p.Gln511=) | |
19 | g.34399919G>C | CA405246609 | GPI | c.1560G>C (p.Gln520His) c.1677G>C (p.Gln559His) c.1226G>C c.1593G>C (p.Gln531His) n.2605G>C c.*611G>C (n.*611G>C) n.2637G>C n.1298G>C c.1417G>C (p.Ala473Pro) c.1605G>C (p.Gln535His) c.193+3262G>C c.1476G>C (p.Gln492His) c.1533G>C (p.Gln511His) | gnomAD v4 |
19 | g.34399919G>T | CA405246610 | GPI | c.1560G>T (p.Gln520His) c.1677G>T (p.Gln559His) c.1226G>T c.1593G>T (p.Gln531His) n.2605G>T c.*611G>T (n.*611G>T) n.2637G>T n.1298G>T c.1417G>T (p.Ala473Ser) c.1605G>T (p.Gln535His) c.193+3262G>T c.1476G>T (p.Gln492His) c.1533G>T (p.Gln511His) | |
19 | g.34399920C>A | CA405246611 | GPI | c.1561C>A (p.Leu521Met) c.1678C>A (p.Leu560Met) c.1227C>A c.1594C>A (p.Leu532Met) n.2606C>A c.*612C>A (n.*612C>A) n.2638C>A n.1299C>A c.1418C>A (p.Ala473Asp) c.1606C>A (p.Leu536Met) c.193+3263C>A c.1477C>A (p.Leu493Met) c.1534C>A (p.Leu512Met) | |
19 | g.34399920C= | CA2333177888 | GPI | c.1561C= (p.Leu521=) c.1678C= (p.Leu560=) c.1227C= c.1594C= (p.Leu532=) n.2606C= c.*612C= (n.*612C=) n.2638C= n.1299C= c.1418C= (p.Ala473=) c.1606C= (p.Leu536=) c.193+3263C= c.1477C= (p.Leu493=) c.1534C= (p.Leu512=) | |
19 | g.34399920C>G | CA405246612 | GPI | c.1561C>G (p.Leu521Val) c.1678C>G (p.Leu560Val) c.1227C>G c.1594C>G (p.Leu532Val) n.2606C>G c.*612C>G (n.*612C>G) n.2638C>G n.1299C>G c.1418C>G (p.Ala473Gly) c.1606C>G (p.Leu536Val) c.193+3263C>G c.1477C>G (p.Leu493Val) c.1534C>G (p.Leu512Val) | |
19 | g.34399920C>T | CA307634739 | GPI | c.1561C>T (p.Leu521=) c.1678C>T (p.Leu560=) c.1227C>T c.1594C>T (p.Leu532=) n.2606C>T c.*612C>T (n.*612C>T) n.2638C>T n.1299C>T c.1418C>T (p.Ala473Val) c.1606C>T (p.Leu536=) c.193+3263C>T c.1477C>T (p.Leu493=) c.1534C>T (p.Leu512=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399921T>A | CA405246615 | GPI | c.1562T>A (p.Leu521Gln) c.1679T>A (p.Leu560Gln) c.1228T>A c.1595T>A (p.Leu532Gln) n.2607T>A c.*613T>A (n.*613T>A) n.2639T>A n.1300T>A c.1419T>A (p.Ala473=) c.1607T>A (p.Leu536Gln) c.193+3264T>A c.1478T>A (p.Leu493Gln) c.1535T>A (p.Leu512Gln) | |
19 | g.34399921T>C | CA405246613 | GPI | c.1562T>C (p.Leu521Pro) c.1679T>C (p.Leu560Pro) c.1228T>C c.1595T>C (p.Leu532Pro) n.2607T>C c.*613T>C (n.*613T>C) n.2639T>C n.1300T>C c.1419T>C (p.Ala473=) c.1607T>C (p.Leu536Pro) c.193+3264T>C c.1478T>C (p.Leu493Pro) c.1535T>C (p.Leu512Pro) | |
19 | g.34399921T>G | CA405246614 | GPI | c.1562T>G (p.Leu521Arg) c.1679T>G (p.Leu560Arg) c.1228T>G c.1595T>G (p.Leu532Arg) n.2607T>G c.*613T>G (n.*613T>G) n.2639T>G n.1300T>G c.1419T>G (p.Ala473=) c.1607T>G (p.Leu536Arg) c.193+3264T>G c.1478T>G (p.Leu493Arg) c.1535T>G (p.Leu512Arg) | |
19 | g.34399922G>A | CA405246616 | GPI | c.1563G>A (p.Leu521=) c.1680G>A (p.Leu560=) c.1229G>A c.1596G>A (p.Leu532=) n.2608G>A c.*614G>A (n.*614G>A) n.2640G>A n.1301G>A c.1420G>A (p.Gly474Ser) c.1608G>A (p.Leu536=) c.193+3265G>A c.1479G>A (p.Leu493=) c.1536G>A (p.Leu512=) | |
19 | g.34399922G>C | CA405246617 | GPI | c.1563G>C (p.Leu521=) c.1680G>C (p.Leu560=) c.1229G>C c.1596G>C (p.Leu532=) n.2608G>C c.*614G>C (n.*614G>C) n.2640G>C n.1301G>C c.1420G>C (p.Gly474Arg) c.1608G>C (p.Leu536=) c.193+3265G>C c.1479G>C (p.Leu493=) c.1536G>C (p.Leu512=) | |
19 | g.34399922G>T | CA405246618 | GPI | c.1563G>T (p.Leu521=) c.1680G>T (p.Leu560=) c.1229G>T c.1596G>T (p.Leu532=) n.2608G>T c.*614G>T (n.*614G>T) n.2640G>T n.1301G>T c.1420G>T (p.Gly474Cys) c.1608G>T (p.Leu536=) c.193+3265G>T c.1479G>T (p.Leu493=) c.1536G>T (p.Leu512=) | |
19 | g.34399923G>A | CA405246619 | GPI | c.1564G>A (p.Ala522Thr) c.1681G>A (p.Ala561Thr) c.1230G>A c.1597G>A (p.Ala533Thr) n.2609G>A c.*615G>A (n.*615G>A) n.2641G>A n.1302G>A c.1421G>A (p.Gly474Asp) c.1609G>A (p.Ala537Thr) c.193+3266G>A c.1480G>A (p.Ala494Thr) c.1537G>A (p.Ala513Thr) | gnomAD v4 |
19 | g.34399923G>C | CA405246620 | GPI | c.1564G>C (p.Ala522Pro) c.1681G>C (p.Ala561Pro) c.1230G>C c.1597G>C (p.Ala533Pro) n.2609G>C c.*615G>C (n.*615G>C) n.2641G>C n.1302G>C c.1421G>C (p.Gly474Ala) c.1609G>C (p.Ala537Pro) c.193+3266G>C c.1480G>C (p.Ala494Pro) c.1537G>C (p.Ala513Pro) | gnomAD v4 |
19 | g.34399923G= | CA2333177889 | GPI | c.1564G= (p.Ala522=) c.1681G= (p.Ala561=) c.1230G= c.1597G= (p.Ala533=) n.2609G= c.*615G= (n.*615G=) n.2641G= n.1302G= c.1421G= (p.Gly474=) c.1609G= (p.Ala537=) c.193+3266G= c.1480G= (p.Ala494=) c.1537G= (p.Ala513=) | |
19 | g.34399923G>T | CA307634744 | GPI | c.1564G>T (p.Ala522Ser) c.1681G>T (p.Ala561Ser) c.1230G>T c.1597G>T (p.Ala533Ser) n.2609G>T c.*615G>T (n.*615G>T) n.2641G>T n.1302G>T c.1421G>T (p.Gly474Val) c.1609G>T (p.Ala537Ser) c.193+3266G>T c.1480G>T (p.Ala494Ser) c.1537G>T (p.Ala513Ser) | dbSNP |
19 | g.34399924C>A | CA405246621 | GPI | c.1565C>A (p.Ala522Asp) c.1682C>A (p.Ala561Asp) c.1231C>A c.1598C>A (p.Ala533Asp) n.2610C>A c.*616C>A (n.*616C>A) n.2642C>A n.1303C>A c.1422C>A (p.Gly474=) c.1610C>A (p.Ala537Asp) c.193+3267C>A c.1481C>A (p.Ala494Asp) c.1538C>A (p.Ala513Asp) | |
19 | g.34399924C>G | CA405246622 | GPI | c.1565C>G (p.Ala522Gly) c.1682C>G (p.Ala561Gly) c.1231C>G c.1598C>G (p.Ala533Gly) n.2610C>G c.*616C>G (n.*616C>G) n.2642C>G n.1303C>G c.1422C>G (p.Gly474=) c.1610C>G (p.Ala537Gly) c.193+3267C>G c.1481C>G (p.Ala494Gly) c.1538C>G (p.Ala513Gly) | |
19 | g.34399924C>T | CA405246623 | GPI | c.1565C>T (p.Ala522Val) c.1682C>T (p.Ala561Val) c.1231C>T c.1598C>T (p.Ala533Val) n.2610C>T c.*616C>T (n.*616C>T) n.2642C>T n.1303C>T c.1422C>T (p.Gly474=) c.1610C>T (p.Ala537Val) c.193+3267C>T c.1481C>T (p.Ala494Val) c.1538C>T (p.Ala513Val) | |
19 | g.34399925T>A | CA405246624 | GPI | c.1566T>A (p.Ala522=) c.1683T>A (p.Ala561=) c.1232T>A c.1599T>A (p.Ala533=) n.2611T>A c.*617T>A (n.*617T>A) n.2643T>A n.1304T>A c.1423T>A (p.Ter475Lys) c.1611T>A (p.Ala537=) c.193+3268T>A c.1482T>A (p.Ala494=) c.1539T>A (p.Ala513=) | |
19 | g.34399925T>C | CA405246625 | GPI | c.1566T>C (p.Ala522=) c.1683T>C (p.Ala561=) c.1232T>C c.1599T>C (p.Ala533=) n.2611T>C c.*617T>C (n.*617T>C) n.2643T>C n.1304T>C c.1423T>C (p.Ter475Gln) c.1611T>C (p.Ala537=) c.193+3268T>C c.1482T>C (p.Ala494=) c.1539T>C (p.Ala513=) | COSMIC |
19 | g.34399925T>G | CA405246626 | GPI | c.1566T>G (p.Ala522=) c.1683T>G (p.Ala561=) c.1232T>G c.1599T>G (p.Ala533=) n.2611T>G c.*617T>G (n.*617T>G) n.2643T>G n.1304T>G c.1423T>G (p.Ter475Glu) c.1611T>G (p.Ala537=) c.193+3268T>G c.1482T>G (p.Ala494=) c.1539T>G (p.Ala513=) | |
19 | g.34399926A= | CA2333177890 | GPI | c.1567A= (p.Lys523=) c.1684A= (p.Lys562=) c.1233A= c.1600A= (p.Lys534=) n.2612A= c.*618A= (n.*618A=) n.2644A= n.1305A= c.1424A= (p.Ter475=) c.1612A= (p.Lys538=) c.193+3269A= c.1483A= (p.Lys495=) c.1540A= (p.Lys514=) | |
19 | g.34399926A>C | CA405246628 | GPI | c.1567A>C (p.Lys523Gln) c.1684A>C (p.Lys562Gln) c.1233A>C c.1600A>C (p.Lys534Gln) n.2612A>C c.*618A>C (n.*618A>C) n.2644A>C n.1305A>C c.1424A>C (p.Ter475Ser) c.1612A>C (p.Lys538Gln) c.193+3269A>C c.1483A>C (p.Lys495Gln) c.1540A>C (p.Lys514Gln) | |
19 | g.34399926A>G | CA307634747 | GPI | c.1567A>G (p.Lys523Glu) c.1684A>G (p.Lys562Glu) c.1233A>G c.1600A>G (p.Lys534Glu) n.2612A>G c.*618A>G (n.*618A>G) n.2644A>G n.1305A>G c.1424A>G (p.Ter475=) c.1612A>G (p.Lys538Glu) c.193+3269A>G c.1483A>G (p.Lys495Glu) c.1540A>G (p.Lys514Glu) | dbSNP gnomAD v4 |
19 | g.34399926A>T | CA405246627 | GPI | c.1567A>T (p.Lys523Ter) c.1684A>T (p.Lys562Ter) c.1233A>T c.1600A>T (p.Lys534Ter) n.2612A>T c.*618A>T (n.*618A>T) n.2644A>T n.1305A>T c.1424A>T (p.Ter475Leu) c.1612A>T (p.Lys538Ter) c.193+3269A>T c.1483A>T (p.Lys495Ter) c.1540A>T (p.Lys514Ter) | |
19 | g.34399927A= | CA2333177891 | GPI | c.1568A= (p.Lys523=) c.1685A= (p.Lys562=) c.1234A= c.1601A= (p.Lys534=) n.2613A= c.*619A= (n.*619A=) n.2645A= n.1306A= c.1425A= (p.Ter475=) c.1613A= (p.Lys538=) c.193+3270A= c.1484A= (p.Lys495=) c.1541A= (p.Lys514=) | |
19 | g.34399927A>C | CA9367485 | GPI | c.1568A>C (p.Lys523Thr) c.1685A>C (p.Lys562Thr) c.1234A>C c.1601A>C (p.Lys534Thr) n.2613A>C c.*619A>C (n.*619A>C) n.2645A>C n.1306A>C c.1425A>C (p.Ter475Tyr) c.1613A>C (p.Lys538Thr) c.193+3270A>C c.1484A>C (p.Lys495Thr) c.1541A>C (p.Lys514Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399927A>G | CA9367484 | GPI | c.1568A>G (p.Lys523Arg) c.1685A>G (p.Lys562Arg) c.1234A>G c.1601A>G (p.Lys534Arg) n.2613A>G c.*619A>G (n.*619A>G) n.2645A>G n.1306A>G c.1425A>G (p.Ter475=) c.1613A>G (p.Lys538Arg) c.193+3270A>G c.1484A>G (p.Lys495Arg) c.1541A>G (p.Lys514Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399927A>T | CA405246629 | GPI | c.1568A>T (p.Lys523Met) c.1685A>T (p.Lys562Met) c.1234A>T c.1601A>T (p.Lys534Met) n.2613A>T c.*619A>T (n.*619A>T) n.2645A>T n.1306A>T c.1425A>T (p.Ter475Tyr) c.1613A>T (p.Lys538Met) c.193+3270A>T c.1484A>T (p.Lys495Met) c.1541A>T (p.Lys514Met) | |
19 | g.34399928G>A | CA506999744 | GPI | c.1569G>A (p.Lys523=) c.1686G>A (p.Lys562=) c.1235G>A c.1602G>A (p.Lys534=) n.2614G>A c.*620G>A (n.*620G>A) n.2646G>A n.1307G>A c.*1G>A (n.*1G>A) c.1614G>A (p.Lys538=) c.193+3271G>A c.1485G>A (p.Lys495=) c.1542G>A (p.Lys514=) | dbSNP |
19 | g.34399928G>C | CA405246630 | GPI | c.1569G>C (p.Lys523Asn) c.1686G>C (p.Lys562Asn) c.1235G>C c.1602G>C (p.Lys534Asn) n.2614G>C c.*620G>C (n.*620G>C) n.2646G>C n.1307G>C c.*1G>C (n.*1G>C) c.1614G>C (p.Lys538Asn) c.193+3271G>C c.1485G>C (p.Lys495Asn) c.1542G>C (p.Lys514Asn) | |
19 | g.34399928G>T | CA405246631 | GPI | c.1569G>T (p.Lys523Asn) c.1686G>T (p.Lys562Asn) c.1235G>T c.1602G>T (p.Lys534Asn) n.2614G>T c.*620G>T (n.*620G>T) n.2646G>T n.1307G>T c.*1G>T (n.*1G>T) c.1614G>T (p.Lys538Asn) c.193+3271G>T c.1485G>T (p.Lys495Asn) c.1542G>T (p.Lys514Asn) | |
19 | g.34399929A>C | CA405246632 | GPI | c.1570A>C (p.Lys524Gln) c.1687A>C (p.Lys563Gln) c.1236A>C c.1603A>C (p.Lys535Gln) n.2615A>C c.*621A>C (n.*621A>C) n.2647A>C n.1308A>C c.*2A>C (n.*2A>C) c.1615A>C (p.Lys539Gln) c.193+3272A>C c.1486A>C (p.Lys496Gln) c.1543A>C (p.Lys515Gln) | |
19 | g.34399929A>G | CA405246633 | GPI | c.1570A>G (p.Lys524Glu) c.1687A>G (p.Lys563Glu) c.1236A>G c.1603A>G (p.Lys535Glu) n.2615A>G c.*621A>G (n.*621A>G) n.2647A>G n.1308A>G c.*2A>G (n.*2A>G) c.1615A>G (p.Lys539Glu) c.193+3272A>G c.1486A>G (p.Lys496Glu) c.1543A>G (p.Lys515Glu) | |
19 | g.34399929A>T | CA405246634 | GPI | c.1570A>T (p.Lys524Ter) c.1687A>T (p.Lys563Ter) c.1236A>T c.1603A>T (p.Lys535Ter) n.2615A>T c.*621A>T (n.*621A>T) n.2647A>T n.1308A>T c.*2A>T (n.*2A>T) c.1615A>T (p.Lys539Ter) c.193+3272A>T c.1486A>T (p.Lys496Ter) c.1543A>T (p.Lys515Ter) | |
19 | g.34399930A>C | CA405246635 | GPI | c.1571A>C (p.Lys524Thr) c.1688A>C (p.Lys563Thr) c.1237A>C c.1604A>C (p.Lys535Thr) n.2616A>C c.*622A>C (n.*622A>C) n.2648A>C n.1309A>C c.*3A>C (n.*3A>C) c.1616A>C (p.Lys539Thr) c.193+3273A>C c.1487A>C (p.Lys496Thr) c.1544A>C (p.Lys515Thr) | |
19 | g.34399930A>G | CA405246636 | GPI | c.1571A>G (p.Lys524Arg) c.1688A>G (p.Lys563Arg) c.1237A>G c.1604A>G (p.Lys535Arg) n.2616A>G c.*622A>G (n.*622A>G) n.2648A>G n.1309A>G c.*3A>G (n.*3A>G) c.1616A>G (p.Lys539Arg) c.193+3273A>G c.1487A>G (p.Lys496Arg) c.1544A>G (p.Lys515Arg) | |
19 | g.34399930A>T | CA405246637 | GPI | c.1571A>T (p.Lys524Ile) c.1688A>T (p.Lys563Ile) c.1237A>T c.1604A>T (p.Lys535Ile) n.2616A>T c.*622A>T (n.*622A>T) n.2648A>T n.1309A>T c.*3A>T (n.*3A>T) c.1616A>T (p.Lys539Ile) c.193+3273A>T c.1487A>T (p.Lys496Ile) c.1544A>T (p.Lys515Ile) | |
19 | g.34399931A>C | CA405246638 | GPI | c.1572A>C (p.Lys524Asn) c.1689A>C (p.Lys563Asn) c.1238A>C c.1605A>C (p.Lys535Asn) n.2617A>C c.*623A>C (n.*623A>C) n.2649A>C n.1310A>C c.*4A>C (n.*4A>C) c.1617A>C (p.Lys539Asn) c.193+3274A>C c.1488A>C (p.Lys496Asn) c.1545A>C (p.Lys515Asn) | |
19 | g.34399931A>G | CA506999746 | GPI | c.1572A>G (p.Lys524=) c.1689A>G (p.Lys563=) c.1238A>G c.1605A>G (p.Lys535=) n.2617A>G c.*623A>G (n.*623A>G) n.2649A>G n.1310A>G c.*4A>G (n.*4A>G) c.1617A>G (p.Lys539=) c.193+3274A>G c.1488A>G (p.Lys496=) c.1545A>G (p.Lys515=) | gnomAD v4 |
19 | g.34399931A>T | CA405246639 | GPI | c.1572A>T (p.Lys524Asn) c.1689A>T (p.Lys563Asn) c.1238A>T c.1605A>T (p.Lys535Asn) n.2617A>T c.*623A>T (n.*623A>T) n.2649A>T n.1310A>T c.*4A>T (n.*4A>T) c.1617A>T (p.Lys539Asn) c.193+3274A>T c.1488A>T (p.Lys496Asn) c.1545A>T (p.Lys515Asn) | |
19 | g.34399932A>C | CA405246642 | GPI | c.1573A>C (p.Ile525Leu) c.1690A>C (p.Ile564Leu) c.1239A>C c.1606A>C (p.Ile536Leu) n.2618A>C c.*624A>C (n.*624A>C) n.2650A>C n.1311A>C c.*5A>C (n.*5A>C) c.1618A>C (p.Ile540Leu) c.193+3275A>C c.1489A>C (p.Ile497Leu) c.1546A>C (p.Ile516Leu) | |
19 | g.34399932A>G | CA405246641 | GPI | c.1573A>G (p.Ile525Val) c.1690A>G (p.Ile564Val) c.1239A>G c.1606A>G (p.Ile536Val) n.2618A>G c.*624A>G (n.*624A>G) n.2650A>G n.1311A>G c.*5A>G (n.*5A>G) c.1618A>G (p.Ile540Val) c.193+3275A>G c.1489A>G (p.Ile497Val) c.1546A>G (p.Ile516Val) | |
19 | g.34399932A>T | CA405246640 | GPI | c.1573A>T (p.Ile525Leu) c.1690A>T (p.Ile564Leu) c.1239A>T c.1606A>T (p.Ile536Leu) n.2618A>T c.*624A>T (n.*624A>T) n.2650A>T n.1311A>T c.*5A>T (n.*5A>T) c.1618A>T (p.Ile540Leu) c.193+3275A>T c.1489A>T (p.Ile497Leu) c.1546A>T (p.Ile516Leu) | |
19 | g.34399933T>A | CA405246643 | GPI | c.1574T>A (p.Ile525Lys) c.1691T>A (p.Ile564Lys) c.1240T>A c.1607T>A (p.Ile536Lys) n.2619T>A c.*625T>A (n.*625T>A) n.2651T>A n.1312T>A c.*6T>A (n.*6T>A) c.1619T>A (p.Ile540Lys) c.193+3276T>A c.1490T>A (p.Ile497Lys) c.1547T>A (p.Ile516Lys) | |
19 | g.34399933T>C | CA123315 | GPI | c.1574T>C (p.Ile525Thr) c.1691T>C (p.Ile564Thr) c.1240T>C c.1607T>C (p.Ile536Thr) n.2619T>C c.*625T>C (n.*625T>C) n.2651T>C n.1312T>C c.*6T>C (n.*6T>C) c.1619T>C (p.Ile540Thr) c.193+3276T>C c.1490T>C (p.Ile497Thr) c.1547T>C (p.Ile516Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399933T>G | CA9367486 | GPI | c.1574T>G (p.Ile525Arg) c.1691T>G (p.Ile564Arg) c.1240T>G c.1607T>G (p.Ile536Arg) n.2619T>G c.*625T>G (n.*625T>G) n.2651T>G n.1312T>G c.*6T>G (n.*6T>G) c.1619T>G (p.Ile540Arg) c.193+3276T>G c.1490T>G (p.Ile497Arg) c.1547T>G (p.Ile516Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399933T= | CA2333177892 | GPI | c.1574T= (p.Ile525=) c.1691T= (p.Ile564=) c.1240T= c.1607T= (p.Ile536=) n.2619T= c.*625T= (n.*625T=) n.2651T= n.1312T= c.*6T= (n.*6T=) c.1619T= (p.Ile540=) c.193+3276T= c.1490T= (p.Ile497=) c.1547T= (p.Ile516=) | |
19 | g.34399934A>C | CA506999749 | GPI | c.1575A>C (p.Ile525=) c.1692A>C (p.Ile564=) c.1241A>C c.1608A>C (p.Ile536=) n.2620A>C c.*626A>C (n.*626A>C) n.2652A>C n.1313A>C c.*7A>C (n.*7A>C) c.1620A>C (p.Ile540=) c.193+3277A>C c.1491A>C (p.Ile497=) c.1548A>C (p.Ile516=) | |
19 | g.34399934A>G | CA405246644 | GPI | c.1575A>G (p.Ile525Met) c.1692A>G (p.Ile564Met) c.1241A>G c.1608A>G (p.Ile536Met) n.2620A>G c.*626A>G (n.*626A>G) n.2652A>G n.1313A>G c.*7A>G (n.*7A>G) c.1620A>G (p.Ile540Met) c.193+3277A>G c.1491A>G (p.Ile497Met) c.1548A>G (p.Ile516Met) | |
19 | g.34399934A>T | CA506999751 | GPI | c.1575A>T (p.Ile525=) c.1692A>T (p.Ile564=) c.1241A>T c.1608A>T (p.Ile536=) n.2620A>T c.*626A>T (n.*626A>T) n.2652A>T n.1313A>T c.*7A>T (n.*7A>T) c.1620A>T (p.Ile540=) c.193+3277A>T c.1491A>T (p.Ile497=) c.1548A>T (p.Ile516=) | |
19 | g.34399935G>A | CA405246645 | GPI | c.1576G>A (p.Glu526Lys) c.1693G>A (p.Glu565Lys) c.1242G>A c.1609G>A (p.Glu537Lys) n.2621G>A c.*627G>A (n.*627G>A) n.2653G>A n.1314G>A c.*8G>A (n.*8G>A) c.1621G>A (p.Glu541Lys) c.193+3278G>A c.1492G>A (p.Glu498Lys) c.1549G>A (p.Glu517Lys) | |
19 | g.34399935G>C | CA405246646 | GPI | c.1576G>C (p.Glu526Gln) c.1693G>C (p.Glu565Gln) c.1242G>C c.1609G>C (p.Glu537Gln) n.2621G>C c.*627G>C (n.*627G>C) n.2653G>C n.1314G>C c.*8G>C (n.*8G>C) c.1621G>C (p.Glu541Gln) c.193+3278G>C c.1492G>C (p.Glu498Gln) c.1549G>C (p.Glu517Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399935G= | CA2333177893 | GPI | c.1576G= (p.Glu526=) c.1693G= (p.Glu565=) c.1242G= c.1609G= (p.Glu537=) n.2621G= c.*627G= (n.*627G=) n.2653G= n.1314G= c.*8G= (n.*8G=) c.1621G= (p.Glu541=) c.193+3278G= c.1492G= (p.Glu498=) c.1549G= (p.Glu517=) | |
19 | g.34399935G>T | CA405246647 | GPI | c.1576G>T (p.Glu526Ter) c.1693G>T (p.Glu565Ter) c.1242G>T c.1609G>T (p.Glu537Ter) n.2621G>T c.*627G>T (n.*627G>T) n.2653G>T n.1314G>T c.*8G>T (n.*8G>T) c.1621G>T (p.Glu541Ter) c.193+3278G>T c.1492G>T (p.Glu498Ter) c.1549G>T (p.Glu517Ter) | |
19 | g.34399936A>C | CA405246648 | GPI | c.1577A>C (p.Glu526Ala) c.1694A>C (p.Glu565Ala) c.1243A>C c.1610A>C (p.Glu537Ala) n.2622A>C c.*628A>C (n.*628A>C) n.2654A>C n.1315A>C c.*9A>C (n.*9A>C) c.1622A>C (p.Glu541Ala) c.193+3279A>C c.1493A>C (p.Glu498Ala) c.1550A>C (p.Glu517Ala) | |
19 | g.34399936A>G | CA405246649 | GPI | c.1577A>G (p.Glu526Gly) c.1694A>G (p.Glu565Gly) c.1243A>G c.1610A>G (p.Glu537Gly) n.2622A>G c.*628A>G (n.*628A>G) n.2654A>G n.1315A>G c.*9A>G (n.*9A>G) c.1622A>G (p.Glu541Gly) c.193+3279A>G c.1493A>G (p.Glu498Gly) c.1550A>G (p.Glu517Gly) | |
19 | g.34399936A>T | CA405246650 | GPI | c.1577A>T (p.Glu526Val) c.1694A>T (p.Glu565Val) c.1243A>T c.1610A>T (p.Glu537Val) n.2622A>T c.*628A>T (n.*628A>T) n.2654A>T n.1315A>T c.*9A>T (n.*9A>T) c.1622A>T (p.Glu541Val) c.193+3279A>T c.1493A>T (p.Glu498Val) c.1550A>T (p.Glu517Val) | |
19 | g.34399937G>A | CA506999754 | GPI | c.1578G>A (p.Glu526=) c.1695G>A (p.Glu565=) c.1244G>A c.1611G>A (p.Glu537=) n.2623G>A c.*629G>A (n.*629G>A) n.2655G>A n.1316G>A c.*10G>A (n.*10G>A) c.1623G>A (p.Glu541=) c.193+3280G>A c.1494G>A (p.Glu498=) c.1551G>A (p.Glu517=) | |
19 | g.34399937G>C | CA405246651 | GPI | c.1578G>C (p.Glu526Asp) c.1695G>C (p.Glu565Asp) c.1244G>C c.1611G>C (p.Glu537Asp) n.2623G>C c.*629G>C (n.*629G>C) n.2655G>C n.1316G>C c.*10G>C (n.*10G>C) c.1623G>C (p.Glu541Asp) c.193+3280G>C c.1494G>C (p.Glu498Asp) c.1551G>C (p.Glu517Asp) | |
19 | g.34399937G>T | CA405246652 | GPI | c.1578G>T (p.Glu526Asp) c.1695G>T (p.Glu565Asp) c.1244G>T c.1611G>T (p.Glu537Asp) n.2623G>T c.*629G>T (n.*629G>T) n.2655G>T n.1316G>T c.*10G>T (n.*10G>T) c.1623G>T (p.Glu541Asp) c.193+3280G>T c.1494G>T (p.Glu498Asp) c.1551G>T (p.Glu517Asp) | |
19 | g.34399938C>A | CA405246654 | GPI | c.1579C>A (p.Pro527Thr) c.1696C>A (p.Pro566Thr) c.1245C>A c.1612C>A (p.Pro538Thr) n.2624C>A c.*630C>A (n.*630C>A) n.2656C>A n.1317C>A c.*11C>A (n.*11C>A) c.1624C>A (p.Pro542Thr) c.193+3281C>A c.1495C>A (p.Pro499Thr) c.1552C>A (p.Pro518Thr) | |
19 | g.34399938C= | CA2333177894 | GPI | c.1579C= (p.Pro527=) c.1696C= (p.Pro566=) c.1245C= c.1612C= (p.Pro538=) n.2624C= c.*630C= (n.*630C=) n.2656C= n.1317C= c.*11C= (n.*11C=) c.1624C= (p.Pro542=) c.193+3281C= c.1495C= (p.Pro499=) c.1552C= (p.Pro518=) | |
19 | g.34399938C>G | CA307634753 | GPI | c.1579C>G (p.Pro527Ala) c.1696C>G (p.Pro566Ala) c.1245C>G c.1612C>G (p.Pro538Ala) n.2624C>G c.*630C>G (n.*630C>G) n.2656C>G n.1317C>G c.*11C>G (n.*11C>G) c.1624C>G (p.Pro542Ala) c.193+3281C>G c.1495C>G (p.Pro499Ala) c.1552C>G (p.Pro518Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399938C>T | CA405246653 | GPI | c.1579C>T (p.Pro527Ser) c.1696C>T (p.Pro566Ser) c.1245C>T c.1612C>T (p.Pro538Ser) n.2624C>T c.*630C>T (n.*630C>T) n.2656C>T n.1317C>T c.*11C>T (n.*11C>T) c.1624C>T (p.Pro542Ser) c.193+3281C>T c.1495C>T (p.Pro499Ser) c.1552C>T (p.Pro518Ser) | |
19 | g.34399939C>A | CA405246655 | GPI | c.1580C>A (p.Pro527His) c.1697C>A (p.Pro566His) c.1246C>A c.1613C>A (p.Pro538His) n.2625C>A c.*631C>A (n.*631C>A) n.2657C>A n.1318C>A c.*12C>A (n.*12C>A) c.1625C>A (p.Pro542His) c.193+3282C>A c.1496C>A (p.Pro499His) c.1553C>A (p.Pro518His) | |
19 | g.34399939C>G | CA405246656 | GPI | c.1580C>G (p.Pro527Arg) c.1697C>G (p.Pro566Arg) c.1246C>G c.1613C>G (p.Pro538Arg) n.2625C>G c.*631C>G (n.*631C>G) n.2657C>G n.1318C>G c.*12C>G (n.*12C>G) c.1625C>G (p.Pro542Arg) c.193+3282C>G c.1496C>G (p.Pro499Arg) c.1553C>G (p.Pro518Arg) | |
19 | g.34399939C>T | CA405246657 | GPI | c.1580C>T (p.Pro527Leu) c.1697C>T (p.Pro566Leu) c.1246C>T c.1613C>T (p.Pro538Leu) n.2625C>T c.*631C>T (n.*631C>T) n.2657C>T n.1318C>T c.*12C>T (n.*12C>T) c.1625C>T (p.Pro542Leu) c.193+3282C>T c.1496C>T (p.Pro499Leu) c.1553C>T (p.Pro518Leu) | |
19 | g.34399940T>A | CA506999758 | GPI | c.1581T>A (p.Pro527=) c.1698T>A (p.Pro566=) c.1247T>A c.1614T>A (p.Pro538=) n.2626T>A c.*632T>A (n.*632T>A) n.2658T>A n.1319T>A c.*13T>A (n.*13T>A) c.1626T>A (p.Pro542=) c.193+3283T>A c.1497T>A (p.Pro499=) c.1554T>A (p.Pro518=) | |
19 | g.34399940T>C | CA506999759 | GPI | c.1581T>C (p.Pro527=) c.1698T>C (p.Pro566=) c.1247T>C c.1614T>C (p.Pro538=) n.2626T>C c.*632T>C (n.*632T>C) n.2658T>C n.1319T>C c.*13T>C (n.*13T>C) c.1626T>C (p.Pro542=) c.193+3283T>C c.1497T>C (p.Pro499=) c.1554T>C (p.Pro518=) | |
19 | g.34399940T>G | CA506999760 | GPI | c.1581T>G (p.Pro527=) c.1698T>G (p.Pro566=) c.1247T>G c.1614T>G (p.Pro538=) n.2626T>G c.*632T>G (n.*632T>G) n.2658T>G n.1319T>G c.*13T>G (n.*13T>G) c.1626T>G (p.Pro542=) c.193+3283T>G c.1497T>G (p.Pro499=) c.1554T>G (p.Pro518=) | |
19 | g.34399941G>A | CA405246658 | GPI | c.1582G>A (p.Glu528Lys) c.1699G>A (p.Glu567Lys) c.1248G>A c.1615G>A (p.Glu539Lys) n.2627G>A c.*633G>A (n.*633G>A) n.2659G>A n.1320G>A c.*14G>A (n.*14G>A) c.1627G>A (p.Glu543Lys) c.193+3284G>A c.1498G>A (p.Glu500Lys) c.1555G>A (p.Glu519Lys) | |
19 | g.34399941G>C | CA405246659 | GPI | c.1582G>C (p.Glu528Gln) c.1699G>C (p.Glu567Gln) c.1248G>C c.1615G>C (p.Glu539Gln) n.2627G>C c.*633G>C (n.*633G>C) n.2659G>C n.1320G>C c.*14G>C (n.*14G>C) c.1627G>C (p.Glu543Gln) c.193+3284G>C c.1498G>C (p.Glu500Gln) c.1555G>C (p.Glu519Gln) | |
19 | g.34399941G>T | CA405246660 | GPI | c.1582G>T (p.Glu528Ter) c.1699G>T (p.Glu567Ter) c.1248G>T c.1615G>T (p.Glu539Ter) n.2627G>T c.*633G>T (n.*633G>T) n.2659G>T n.1320G>T c.*14G>T (n.*14G>T) c.1627G>T (p.Glu543Ter) c.193+3284G>T c.1498G>T (p.Glu500Ter) c.1555G>T (p.Glu519Ter) | |
19 | g.34399941dup | CA2840921786 | GPI | c.1582dup (p.Glu528GlyfsTer3) c.1699dup (p.Glu567GlyfsTer3) c.1248dup c.1615dup (p.Glu539GlyfsTer3) n.2627dup c.*633dup (n.*633dup) n.2659dup n.1320dup c.*14dup (n.*14dup) c.1627dup (p.Glu543GlyfsTer3) c.193+3284dup c.1498dup (p.Glu500GlyfsTer3) c.1555dup (p.Glu519GlyfsTer3) | |
19 | g.34399942A= | CA2333177895 | GPI | c.1583A= (p.Glu528=) c.1700A= (p.Glu567=) c.1249A= c.1616A= (p.Glu539=) n.2628A= c.*634A= (n.*634A=) n.2660A= n.1321A= c.*15A= (n.*15A=) c.1628A= (p.Glu543=) c.193+3285A= c.1499A= (p.Glu500=) c.1556A= (p.Glu519=) | |
19 | g.34399942A>C | CA405246663 | GPI | c.1583A>C (p.Glu528Ala) c.1700A>C (p.Glu567Ala) c.1249A>C c.1616A>C (p.Glu539Ala) n.2628A>C c.*634A>C (n.*634A>C) n.2660A>C n.1321A>C c.*15A>C (n.*15A>C) c.1628A>C (p.Glu543Ala) c.193+3285A>C c.1499A>C (p.Glu500Ala) c.1556A>C (p.Glu519Ala) | |
19 | g.34399942A>G | CA405246661 | GPI | c.1583A>G (p.Glu528Gly) c.1700A>G (p.Glu567Gly) c.1249A>G c.1616A>G (p.Glu539Gly) n.2628A>G c.*634A>G (n.*634A>G) n.2660A>G n.1321A>G c.*15A>G (n.*15A>G) c.1628A>G (p.Glu543Gly) c.193+3285A>G c.1499A>G (p.Glu500Gly) c.1556A>G (p.Glu519Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399942A>T | CA405246662 | GPI | c.1583A>T (p.Glu528Val) c.1700A>T (p.Glu567Val) c.1249A>T c.1616A>T (p.Glu539Val) n.2628A>T c.*634A>T (n.*634A>T) n.2660A>T n.1321A>T c.*15A>T (n.*15A>T) c.1628A>T (p.Glu543Val) c.193+3285A>T c.1499A>T (p.Glu500Val) c.1556A>T (p.Glu519Val) | |
19 | g.34399943G>A | CA506999762 | GPI | c.1584G>A (p.Glu528=) c.1701G>A (p.Glu567=) c.1250G>A c.1617G>A (p.Glu539=) n.2629G>A c.*635G>A (n.*635G>A) n.2661G>A n.1322G>A c.*16G>A (n.*16G>A) c.1629G>A (p.Glu543=) c.193+3286G>A c.1500G>A (p.Glu500=) c.1557G>A (p.Glu519=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399943G>C | CA405246664 | GPI | c.1584G>C (p.Glu528Asp) c.1701G>C (p.Glu567Asp) c.1250G>C c.1617G>C (p.Glu539Asp) n.2629G>C c.*635G>C (n.*635G>C) n.2661G>C n.1322G>C c.*16G>C (n.*16G>C) c.1629G>C (p.Glu543Asp) c.193+3286G>C c.1500G>C (p.Glu500Asp) c.1557G>C (p.Glu519Asp) | |
19 | g.34399943G= | CA2333177896 | GPI | c.1584G= (p.Glu528=) c.1701G= (p.Glu567=) c.1250G= c.1617G= (p.Glu539=) n.2629G= c.*635G= (n.*635G=) n.2661G= n.1322G= c.*16G= (n.*16G=) c.1629G= (p.Glu543=) c.193+3286G= c.1500G= (p.Glu500=) c.1557G= (p.Glu519=) | |
19 | g.34399943G>T | CA405246665 | GPI | c.1584G>T (p.Glu528Asp) c.1701G>T (p.Glu567Asp) c.1250G>T c.1617G>T (p.Glu539Asp) n.2629G>T c.*635G>T (n.*635G>T) n.2661G>T n.1322G>T c.*16G>T (n.*16G>T) c.1629G>T (p.Glu543Asp) c.193+3286G>T c.1500G>T (p.Glu500Asp) c.1557G>T (p.Glu519Asp) | |
19 | g.34399944C>A | CA405246666 | GPI | c.1585C>A (p.Leu529Ile) c.1702C>A (p.Leu568Ile) c.1251C>A c.1618C>A (p.Leu540Ile) n.2630C>A c.*636C>A (n.*636C>A) n.2662C>A n.1323C>A c.*17C>A (n.*17C>A) c.1630C>A (p.Leu544Ile) c.193+3287C>A c.1501C>A (p.Leu501Ile) c.1558C>A (p.Leu520Ile) | |
19 | g.34399944C= | CA2333177897 | GPI | c.1585C= (p.Leu529=) c.1702C= (p.Leu568=) c.1251C= c.1618C= (p.Leu540=) n.2630C= c.*636C= (n.*636C=) n.2662C= n.1323C= c.*17C= (n.*17C=) c.1630C= (p.Leu544=) c.193+3287C= c.1501C= (p.Leu501=) c.1558C= (p.Leu520=) | |
19 | g.34399944C>G | CA9367487 | GPI | c.1585C>G (p.Leu529Val) c.1702C>G (p.Leu568Val) c.1251C>G c.1618C>G (p.Leu540Val) n.2630C>G c.*636C>G (n.*636C>G) n.2662C>G n.1323C>G c.*17C>G (n.*17C>G) c.1630C>G (p.Leu544Val) c.193+3287C>G c.1501C>G (p.Leu501Val) c.1558C>G (p.Leu520Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399944C>T | CA405246667 | GPI | c.1585C>T (p.Leu529Phe) c.1702C>T (p.Leu568Phe) c.1251C>T c.1618C>T (p.Leu540Phe) n.2630C>T c.*636C>T (n.*636C>T) n.2662C>T n.1323C>T c.*17C>T (n.*17C>T) c.1630C>T (p.Leu544Phe) c.193+3287C>T c.1501C>T (p.Leu501Phe) c.1558C>T (p.Leu520Phe) | dbSNP |
19 | g.34399945T>A | CA405246668 | GPI | c.1586T>A (p.Leu529His) c.1703T>A (p.Leu568His) c.1252T>A c.1619T>A (p.Leu540His) n.2631T>A c.*637T>A (n.*637T>A) n.2663T>A n.1324T>A c.*18T>A (n.*18T>A) c.1631T>A (p.Leu544His) c.193+3288T>A c.1502T>A (p.Leu501His) c.1559T>A (p.Leu520His) | |
19 | g.34399945T>C | CA405246670 | GPI | c.1586T>C (p.Leu529Pro) c.1703T>C (p.Leu568Pro) c.1252T>C c.1619T>C (p.Leu540Pro) n.2631T>C c.*637T>C (n.*637T>C) n.2663T>C n.1324T>C c.*18T>C (n.*18T>C) c.1631T>C (p.Leu544Pro) c.193+3288T>C c.1502T>C (p.Leu501Pro) c.1559T>C (p.Leu520Pro) | |
19 | g.34399945T>G | CA405246669 | GPI | c.1586T>G (p.Leu529Arg) c.1703T>G (p.Leu568Arg) c.1252T>G c.1619T>G (p.Leu540Arg) n.2631T>G c.*637T>G (n.*637T>G) n.2663T>G n.1324T>G c.*18T>G (n.*18T>G) c.1631T>G (p.Leu544Arg) c.193+3288T>G c.1502T>G (p.Leu501Arg) c.1559T>G (p.Leu520Arg) | |
19 | g.34399946T>A | CA506999763 | GPI | c.1587T>A (p.Leu529=) c.1704T>A (p.Leu568=) c.1253T>A c.1620T>A (p.Leu540=) n.2632T>A c.*638T>A (n.*638T>A) n.2664T>A n.1325T>A c.*19T>A (n.*19T>A) c.1632T>A (p.Leu544=) c.193+3289T>A c.1503T>A (p.Leu501=) c.1560T>A (p.Leu520=) | |
19 | g.34399946T>C | CA307634776 | GPI | c.1587T>C (p.Leu529=) c.1704T>C (p.Leu568=) c.1253T>C c.1620T>C (p.Leu540=) n.2632T>C c.*638T>C (n.*638T>C) n.2664T>C n.1325T>C c.*19T>C (n.*19T>C) c.1632T>C (p.Leu544=) c.193+3289T>C c.1503T>C (p.Leu501=) c.1560T>C (p.Leu520=) | dbSNP gnomAD v4 |
19 | g.34399946T>G | CA506999764 | GPI | c.1587T>G (p.Leu529=) c.1704T>G (p.Leu568=) c.1253T>G c.1620T>G (p.Leu540=) n.2632T>G c.*638T>G (n.*638T>G) n.2664T>G n.1325T>G c.*19T>G (n.*19T>G) c.1632T>G (p.Leu544=) c.193+3289T>G c.1503T>G (p.Leu501=) c.1560T>G (p.Leu520=) | |
19 | g.34399946T= | CA2333177898 | GPI | c.1587T= (p.Leu529=) c.1704T= (p.Leu568=) c.1253T= c.1620T= (p.Leu540=) n.2632T= c.*638T= (n.*638T=) n.2664T= n.1325T= c.*19T= (n.*19T=) c.1632T= (p.Leu544=) c.193+3289T= c.1503T= (p.Leu501=) c.1560T= (p.Leu520=) | |
19 | g.34399947G>A | CA405246671 | GPI | c.1588G>A (p.Asp530Asn) c.1705G>A (p.Asp569Asn) c.1254G>A c.1621G>A (p.Asp541Asn) n.2633G>A c.*639G>A (n.*639G>A) n.2665G>A n.1326G>A c.*20G>A (n.*20G>A) c.1633G>A (p.Asp545Asn) c.193+3290G>A c.1504G>A (p.Asp502Asn) c.1561G>A (p.Asp521Asn) | |
19 | g.34399947G>C | CA405246672 | GPI | c.1588G>C (p.Asp530His) c.1705G>C (p.Asp569His) c.1254G>C c.1621G>C (p.Asp541His) n.2633G>C c.*639G>C (n.*639G>C) n.2665G>C n.1326G>C c.*20G>C (n.*20G>C) c.1633G>C (p.Asp545His) c.193+3290G>C c.1504G>C (p.Asp502His) c.1561G>C (p.Asp521His) | COSMIC |
19 | g.34399947G>T | CA405246673 | GPI | c.1588G>T (p.Asp530Tyr) c.1705G>T (p.Asp569Tyr) c.1254G>T c.1621G>T (p.Asp541Tyr) n.2633G>T c.*639G>T (n.*639G>T) n.2665G>T n.1326G>T c.*20G>T (n.*20G>T) c.1633G>T (p.Asp545Tyr) c.193+3290G>T c.1504G>T (p.Asp502Tyr) c.1561G>T (p.Asp521Tyr) | |
19 | g.34399948A>C | CA405246674 | GPI | c.1589A>C (p.Asp530Ala) c.1706A>C (p.Asp569Ala) c.1255A>C c.1622A>C (p.Asp541Ala) n.2634A>C c.*640A>C (n.*640A>C) n.2666A>C n.1327A>C c.*21A>C (n.*21A>C) c.1634A>C (p.Asp545Ala) c.193+3291A>C c.1505A>C (p.Asp502Ala) c.1562A>C (p.Asp521Ala) | |
19 | g.34399948A>G | CA405246675 | GPI | c.1589A>G (p.Asp530Gly) c.1706A>G (p.Asp569Gly) c.1255A>G c.1622A>G (p.Asp541Gly) n.2634A>G c.*640A>G (n.*640A>G) n.2666A>G n.1327A>G c.*21A>G (n.*21A>G) c.1634A>G (p.Asp545Gly) c.193+3291A>G c.1505A>G (p.Asp502Gly) c.1562A>G (p.Asp521Gly) | gnomAD v4 |
19 | g.34399948A>T | CA405246676 | GPI | c.1589A>T (p.Asp530Val) c.1706A>T (p.Asp569Val) c.1255A>T c.1622A>T (p.Asp541Val) n.2634A>T c.*640A>T (n.*640A>T) n.2666A>T n.1327A>T c.*21A>T (n.*21A>T) c.1634A>T (p.Asp545Val) c.193+3291A>T c.1505A>T (p.Asp502Val) c.1562A>T (p.Asp521Val) | |
19 | g.34399949T>A | CA405246677 | GPI | c.1590T>A (p.Asp530Glu) c.1707T>A (p.Asp569Glu) c.1256T>A c.1623T>A (p.Asp541Glu) n.2635T>A c.*641T>A (n.*641T>A) n.2667T>A n.1328T>A c.*22T>A (n.*22T>A) c.1635T>A (p.Asp545Glu) c.193+3292T>A c.1506T>A (p.Asp502Glu) c.1563T>A (p.Asp521Glu) | |
19 | g.34399949T>C | CA506999768 | GPI | c.1590T>C (p.Asp530=) c.1707T>C (p.Asp569=) c.1256T>C c.1623T>C (p.Asp541=) n.2635T>C c.*641T>C (n.*641T>C) n.2667T>C n.1328T>C c.*22T>C (n.*22T>C) c.1635T>C (p.Asp545=) c.193+3292T>C c.1506T>C (p.Asp502=) c.1563T>C (p.Asp521=) | |
19 | g.34399949T>G | CA405246678 | GPI | c.1590T>G (p.Asp530Glu) c.1707T>G (p.Asp569Glu) c.1256T>G c.1623T>G (p.Asp541Glu) n.2635T>G c.*641T>G (n.*641T>G) n.2667T>G n.1328T>G c.*22T>G (n.*22T>G) c.1635T>G (p.Asp545Glu) c.193+3292T>G c.1506T>G (p.Asp502Glu) c.1563T>G (p.Asp521Glu) | |
19 | g.34399950G>A | CA405246679 | GPI | c.1591G>A (p.Gly531Ser) c.1708G>A (p.Gly570Ser) c.1257G>A c.1624G>A (p.Gly542Ser) n.2636G>A c.*642G>A (n.*642G>A) n.2668G>A n.1329G>A c.*23G>A (n.*23G>A) c.1636G>A (p.Gly546Ser) c.193+3293G>A c.1507G>A (p.Gly503Ser) c.1564G>A (p.Gly522Ser) | dbSNP |
19 | g.34399950G>C | CA405246680 | GPI | c.1591G>C (p.Gly531Arg) c.1708G>C (p.Gly570Arg) c.1257G>C c.1624G>C (p.Gly542Arg) n.2636G>C c.*642G>C (n.*642G>C) n.2668G>C n.1329G>C c.*23G>C (n.*23G>C) c.1636G>C (p.Gly546Arg) c.193+3293G>C c.1507G>C (p.Gly503Arg) c.1564G>C (p.Gly522Arg) | |
19 | g.34399950G= | CA2333177899 | GPI | c.1591G= (p.Gly531=) c.1708G= (p.Gly570=) c.1257G= c.1624G= (p.Gly542=) n.2636G= c.*642G= (n.*642G=) n.2668G= n.1329G= c.*23G= (n.*23G=) c.1636G= (p.Gly546=) c.193+3293G= c.1507G= (p.Gly503=) c.1564G= (p.Gly522=) | |
19 | g.34399950G>T | CA405246681 | GPI | c.1591G>T (p.Gly531Cys) c.1708G>T (p.Gly570Cys) c.1257G>T c.1624G>T (p.Gly542Cys) n.2636G>T c.*642G>T (n.*642G>T) n.2668G>T n.1329G>T c.*23G>T (n.*23G>T) c.1636G>T (p.Gly546Cys) c.193+3293G>T c.1507G>T (p.Gly503Cys) c.1564G>T (p.Gly522Cys) | |
19 | g.34399951G>A | CA405246683 | GPI | c.1592G>A (p.Gly531Asp) c.1709G>A (p.Gly570Asp) c.1258G>A c.1625G>A (p.Gly542Asp) n.2637G>A c.*643G>A (n.*643G>A) n.2669G>A n.1330G>A c.*24G>A (n.*24G>A) c.1637G>A (p.Gly546Asp) c.193+3294G>A c.1508G>A (p.Gly503Asp) c.1565G>A (p.Gly522Asp) | |
19 | g.34399951G>C | CA405246684 | GPI | c.1592G>C (p.Gly531Ala) c.1709G>C (p.Gly570Ala) c.1258G>C c.1625G>C (p.Gly542Ala) n.2637G>C c.*643G>C (n.*643G>C) n.2669G>C n.1330G>C c.*24G>C (n.*24G>C) c.1637G>C (p.Gly546Ala) c.193+3294G>C c.1508G>C (p.Gly503Ala) c.1565G>C (p.Gly522Ala) | |
19 | g.34399951G>T | CA405246682 | GPI | c.1592G>T (p.Gly531Val) c.1709G>T (p.Gly570Val) c.1258G>T c.1625G>T (p.Gly542Val) n.2637G>T c.*643G>T (n.*643G>T) n.2669G>T n.1330G>T c.*24G>T (n.*24G>T) c.1637G>T (p.Gly546Val) c.193+3294G>T c.1508G>T (p.Gly503Val) c.1565G>T (p.Gly522Val) | |
19 | g.34399952C>A | CA506999772 | GPI | c.1593C>A (p.Gly531=) c.1710C>A (p.Gly570=) c.1259C>A c.1626C>A (p.Gly542=) n.2638C>A c.*644C>A (n.*644C>A) n.2670C>A n.1331C>A c.*25C>A (n.*25C>A) c.1638C>A (p.Gly546=) c.193+3295C>A c.1509C>A (p.Gly503=) c.1566C>A (p.Gly522=) | |
19 | g.34399952C= | CA2333177900 | GPI | c.1593C= (p.Gly531=) c.1710C= (p.Gly570=) c.1259C= c.1626C= (p.Gly542=) n.2638C= c.*644C= (n.*644C=) n.2670C= n.1331C= c.*25C= (n.*25C=) c.1638C= (p.Gly546=) c.193+3295C= c.1509C= (p.Gly503=) c.1566C= (p.Gly522=) | |
19 | g.34399952C>G | CA506999773 | GPI | c.1593C>G (p.Gly531=) c.1710C>G (p.Gly570=) c.1259C>G c.1626C>G (p.Gly542=) n.2638C>G c.*644C>G (n.*644C>G) n.2670C>G n.1331C>G c.*25C>G (n.*25C>G) c.1638C>G (p.Gly546=) c.193+3295C>G c.1509C>G (p.Gly503=) c.1566C>G (p.Gly522=) | |
19 | g.34399952C>T | CA307634781 | GPI | c.1593C>T (p.Gly531=) c.1710C>T (p.Gly570=) c.1259C>T c.1626C>T (p.Gly542=) n.2638C>T c.*644C>T (n.*644C>T) n.2670C>T n.1331C>T c.*25C>T (n.*25C>T) c.1638C>T (p.Gly546=) c.193+3295C>T c.1509C>T (p.Gly503=) c.1566C>T (p.Gly522=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.34399953A= | CA2333177901 | GPI | c.1594A= (p.Ser532=) c.1711A= (p.Ser571=) c.1260A= c.1627A= (p.Ser543=) n.2639A= c.*645A= (n.*645A=) n.2671A= n.1332A= c.*26A= (n.*26A=) c.1639A= (p.Ser547=) c.193+3296A= c.1510A= (p.Ser504=) c.1567A= (p.Ser523=) | |
19 | g.34399953A>C | CA405246686 | GPI | c.1594A>C (p.Ser532Arg) c.1711A>C (p.Ser571Arg) c.1260A>C c.1627A>C (p.Ser543Arg) n.2639A>C c.*645A>C (n.*645A>C) n.2671A>C n.1332A>C c.*26A>C (n.*26A>C) c.1639A>C (p.Ser547Arg) c.193+3296A>C c.1510A>C (p.Ser504Arg) c.1567A>C (p.Ser523Arg) | |
19 | g.34399953A>G | CA9367488 | GPI | c.1594A>G (p.Ser532Gly) c.1711A>G (p.Ser571Gly) c.1260A>G c.1627A>G (p.Ser543Gly) n.2639A>G c.*645A>G (n.*645A>G) n.2671A>G n.1332A>G c.*26A>G (n.*26A>G) c.1639A>G (p.Ser547Gly) c.193+3296A>G c.1510A>G (p.Ser504Gly) c.1567A>G (p.Ser523Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399953A>T | CA405246685 | GPI | c.1594A>T (p.Ser532Cys) c.1711A>T (p.Ser571Cys) c.1260A>T c.1627A>T (p.Ser543Cys) n.2639A>T c.*645A>T (n.*645A>T) n.2671A>T n.1332A>T c.*26A>T (n.*26A>T) c.1639A>T (p.Ser547Cys) c.193+3296A>T c.1510A>T (p.Ser504Cys) c.1567A>T (p.Ser523Cys) | |
19 | g.34399954G>A | CA405246687 | GPI | c.1595G>A (p.Ser532Asn) c.1712G>A (p.Ser571Asn) c.1261G>A c.1628G>A (p.Ser543Asn) n.2640G>A c.*646G>A (n.*646G>A) n.2672G>A n.1333G>A c.*27G>A (n.*27G>A) c.1640G>A (p.Ser547Asn) c.193+3297G>A c.1511G>A (p.Ser504Asn) c.1568G>A (p.Ser523Asn) | |
19 | g.34399954G>C | CA9367489 | GPI | c.1595G>C (p.Ser532Thr) c.1712G>C (p.Ser571Thr) c.1261G>C c.1628G>C (p.Ser543Thr) n.2640G>C c.*646G>C (n.*646G>C) n.2672G>C n.1333G>C c.*27G>C (n.*27G>C) c.1640G>C (p.Ser547Thr) c.193+3297G>C c.1511G>C (p.Ser504Thr) c.1568G>C (p.Ser523Thr) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.34399954G= | CA2333177902 | GPI | c.1595G= (p.Ser532=) c.1712G= (p.Ser571=) c.1261G= c.1628G= (p.Ser543=) n.2640G= c.*646G= (n.*646G=) n.2672G= n.1333G= c.*27G= (n.*27G=) c.1640G= (p.Ser547=) c.193+3297G= c.1511G= (p.Ser504=) c.1568G= (p.Ser523=) | |
19 | g.34399954G>T | CA405246688 | GPI | c.1595G>T (p.Ser532Ile) c.1712G>T (p.Ser571Ile) c.1261G>T c.1628G>T (p.Ser543Ile) n.2640G>T c.*646G>T (n.*646G>T) n.2672G>T n.1333G>T c.*27G>T (n.*27G>T) c.1640G>T (p.Ser547Ile) c.193+3297G>T c.1511G>T (p.Ser504Ile) c.1568G>T (p.Ser523Ile) | |
19 | g.34399955T>A | CA405246689 | GPI | c.1596T>A (p.Ser532Arg) c.1713T>A (p.Ser571Arg) c.1262T>A c.1629T>A (p.Ser543Arg) n.2641T>A c.*647T>A (n.*647T>A) n.2673T>A n.1334T>A c.*28T>A (n.*28T>A) c.1641T>A (p.Ser547Arg) c.193+3298T>A c.1512T>A (p.Ser504Arg) c.1569T>A (p.Ser523Arg) | |
19 | g.34399955T>C | CA506999777 | GPI | c.1596T>C (p.Ser532=) c.1713T>C (p.Ser571=) c.1262T>C c.1629T>C (p.Ser543=) n.2641T>C c.*647T>C (n.*647T>C) n.2673T>C n.1334T>C c.*28T>C (n.*28T>C) c.1641T>C (p.Ser547=) c.193+3298T>C c.1512T>C (p.Ser504=) c.1569T>C (p.Ser523=) | |
19 | g.34399955T>G | CA405246690 | GPI | c.1596T>G (p.Ser532Arg) c.1713T>G (p.Ser571Arg) c.1262T>G c.1629T>G (p.Ser543Arg) n.2641T>G c.*647T>G (n.*647T>G) n.2673T>G n.1334T>G c.*28T>G (n.*28T>G) c.1641T>G (p.Ser547Arg) c.193+3298T>G c.1512T>G (p.Ser504Arg) c.1569T>G (p.Ser523Arg) | |
19 | g.34399956G>A | CA405246691 | GPI | c.1597G>A (p.Ala533Thr) c.1714G>A (p.Ala572Thr) c.1263G>A c.1630G>A (p.Ala544Thr) n.2642G>A c.*648G>A (n.*648G>A) n.2674G>A n.1335G>A c.*29G>A (n.*29G>A) c.1642G>A (p.Ala548Thr) c.193+3299G>A c.1513G>A (p.Ala505Thr) c.1570G>A (p.Ala524Thr) | gnomAD v4 |
19 | g.34399956G>C | CA405246692 | GPI | c.1597G>C (p.Ala533Pro) c.1714G>C (p.Ala572Pro) c.1263G>C c.1630G>C (p.Ala544Pro) n.2642G>C c.*648G>C (n.*648G>C) n.2674G>C n.1335G>C c.*29G>C (n.*29G>C) c.1642G>C (p.Ala548Pro) c.193+3299G>C c.1513G>C (p.Ala505Pro) c.1570G>C (p.Ala524Pro) | |
19 | g.34399956G= | CA2333177903 | GPI | c.1597G= (p.Ala533=) c.1714G= (p.Ala572=) c.1263G= c.1630G= (p.Ala544=) n.2642G= c.*648G= (n.*648G=) n.2674G= n.1335G= c.*29G= (n.*29G=) c.1642G= (p.Ala548=) c.193+3299G= c.1513G= (p.Ala505=) c.1570G= (p.Ala524=) | |
19 | g.34399956G>T | CA9367490 | GPI | c.1597G>T (p.Ala533Ser) c.1714G>T (p.Ala572Ser) c.1263G>T c.1630G>T (p.Ala544Ser) n.2642G>T c.*648G>T (n.*648G>T) n.2674G>T n.1335G>T c.*29G>T (n.*29G>T) c.1642G>T (p.Ala548Ser) c.193+3299G>T c.1513G>T (p.Ala505Ser) c.1570G>T (p.Ala524Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.34399957C>A | CA405246693 | GPI | c.1598C>A (p.Ala533Asp) c.1715C>A (p.Ala572Asp) c.1264C>A c.1631C>A (p.Ala544Asp) n.2643C>A c.*649C>A (n.*649C>A) n.2675C>A n.1336C>A c.*30C>A (n.*30C>A) c.1643C>A (p.Ala548Asp) c.193+3300C>A c.1514C>A (p.Ala505Asp) c.1571C>A (p.Ala524Asp) | |
19 | g.34399957C>G | CA405246694 | GPI | c.1598C>G (p.Ala533Gly) c.1715C>G (p.Ala572Gly) c.1264C>G c.1631C>G (p.Ala544Gly) n.2643C>G c.*649C>G (n.*649C>G) n.2675C>G n.1336C>G c.*30C>G (n.*30C>G) c.1643C>G (p.Ala548Gly) c.193+3300C>G c.1514C>G (p.Ala505Gly) c.1571C>G (p.Ala524Gly) | |
19 | g.34399957C>T | CA405246695 | GPI | c.1598C>T (p.Ala533Val) c.1715C>T (p.Ala572Val) c.1264C>T c.1631C>T (p.Ala544Val) n.2643C>T c.*649C>T (n.*649C>T) n.2675C>T n.1336C>T c.*30C>T (n.*30C>T) c.1643C>T (p.Ala548Val) c.193+3300C>T c.1514C>T (p.Ala505Val) c.1571C>T (p.Ala524Val) | |
19 | g.34399958T>A | CA506999780 | GPI | c.1599T>A (p.Ala533=) c.1716T>A (p.Ala572=) c.1265T>A c.1632T>A (p.Ala544=) n.2644T>A c.*650T>A (n.*650T>A) n.2676T>A n.1337T>A c.*31T>A (n.*31T>A) c.1644T>A (p.Ala548=) c.193+3301T>A c.1515T>A (p.Ala505=) c.1572T>A (p.Ala524=) | |
19 | g.34399958T>C | CA506999781 | GPI | c.1599T>C (p.Ala533=) c.1716T>C (p.Ala572=) c.1265T>C c.1632T>C (p.Ala544=) n.2644T>C c.*650T>C (n.*650T>C) n.2676T>C n.1337T>C c.*31T>C (n.*31T>C) c.1644T>C (p.Ala548=) c.193+3301T>C c.1515T>C (p.Ala505=) c.1572T>C (p.Ala524=) | dbSNP |
19 | g.34399958T>G | CA506999782 | GPI | c.1599T>G (p.Ala533=) c.1716T>G (p.Ala572=) c.1265T>G c.1632T>G (p.Ala544=) n.2644T>G c.*650T>G (n.*650T>G) n.2676T>G n.1337T>G c.*31T>G (n.*31T>G) c.1644T>G (p.Ala548=) c.193+3301T>G c.1515T>G (p.Ala505=) c.1572T>G (p.Ala524=) | |
19 | g.34399958T= | CA2333177904 | GPI | c.1599T= (p.Ala533=) c.1716T= (p.Ala572=) c.1265T= c.1632T= (p.Ala544=) n.2644T= c.*650T= (n.*650T=) n.2676T= n.1337T= c.*31T= (n.*31T=) c.1644T= (p.Ala548=) c.193+3301T= c.1515T= (p.Ala505=) c.1572T= (p.Ala524=) | |
19 | g.34399959del | CA2839568498 | GPI | c.1600del (p.Gln534LysfsTer2) c.1717del (p.Gln573LysfsTer2) c.1266del c.1633del (p.Gln545LysfsTer2) n.2645del c.*651del (n.*651del) n.2677del n.1338del c.*32del (n.*32del) c.1645del (p.Gln549LysfsTer2) c.193+3302del c.1516del (p.Gln506LysfsTer2) c.1573del (p.Gln525LysfsTer2) | |
19 | g.34399959C>A | CA405246698 | GPI | c.1600C>A (p.Gln534Lys) c.1717C>A (p.Gln573Lys) c.1266C>A c.1633C>A (p.Gln545Lys) n.2645C>A c.*651C>A (n.*651C>A) n.2677C>A n.1338C>A c.*32C>A (n.*32C>A) c.1645C>A (p.Gln549Lys) c.193+3302C>A c.1516C>A (p.Gln506Lys) c.1573C>A (p.Gln525Lys) | |
19 | g.34399959C>G | CA405246696 | GPI | c.1600C>G (p.Gln534Glu) c.1717C>G (p.Gln573Glu) c.1266C>G c.1633C>G (p.Gln545Glu) n.2645C>G c.*651C>G (n.*651C>G) n.2677C>G n.1338C>G c.*32C>G (n.*32C>G) c.1645C>G (p.Gln549Glu) c.193+3302C>G c.1516C>G (p.Gln506Glu) c.1573C>G (p.Gln525Glu) | |
19 | g.34399959C>T | CA405246697 | GPI | c.1600C>T (p.Gln534Ter) c.1717C>T (p.Gln573Ter) c.1266C>T c.1633C>T (p.Gln545Ter) n.2645C>T c.*651C>T (n.*651C>T) n.2677C>T n.1338C>T c.*32C>T (n.*32C>T) c.1645C>T (p.Gln549Ter) c.193+3302C>T c.1516C>T (p.Gln506Ter) c.1573C>T (p.Gln525Ter) | COSMIC |
19 | g.34399960A>C | CA405246699 | GPI | c.1601A>C (p.Gln534Pro) c.1718A>C (p.Gln573Pro) c.1267A>C c.1634A>C (p.Gln545Pro) n.2646A>C c.*652A>C (n.*652A>C) n.2678A>C n.1339A>C c.*33A>C (n.*33A>C) c.1646A>C (p.Gln549Pro) c.193+3303A>C c.1517A>C (p.Gln506Pro) c.1574A>C (p.Gln525Pro) | |
19 | g.34399960A>G | CA405246700 | GPI | c.1601A>G (p.Gln534Arg) c.1718A>G (p.Gln573Arg) c.1267A>G c.1634A>G (p.Gln545Arg) n.2646A>G c.*652A>G (n.*652A>G) n.2678A>G n.1339A>G c.*33A>G (n.*33A>G) c.1646A>G (p.Gln549Arg) c.193+3303A>G c.1517A>G (p.Gln506Arg) c.1574A>G (p.Gln525Arg) | |
19 | g.34399960A>T | CA405246701 | GPI | c.1601A>T (p.Gln534Leu) c.1718A>T (p.Gln573Leu) c.1267A>T c.1634A>T (p.Gln545Leu) n.2646A>T c.*652A>T (n.*652A>T) n.2678A>T n.1339A>T c.*33A>T (n.*33A>T) c.1646A>T (p.Gln549Leu) c.193+3303A>T c.1517A>T (p.Gln506Leu) c.1574A>T (p.Gln525Leu) | |
19 | g.34399961A= | CA2333177905 | GPI | c.1602A= (p.Gln534=) c.1719A= (p.Gln573=) c.1268A= c.1635A= (p.Gln545=) n.2647A= c.*653A= (n.*653A=) n.2679A= n.1340A= c.*34A= (n.*34A=) c.1647A= (p.Gln549=) c.193+3304A= c.1518A= (p.Gln506=) c.1575A= (p.Gln525=) | |
19 | g.34399961A>C | CA405246702 | GPI | c.1602A>C (p.Gln534His) c.1719A>C (p.Gln573His) c.1268A>C c.1635A>C (p.Gln545His) n.2647A>C c.*653A>C (n.*653A>C) n.2679A>C n.1340A>C c.*34A>C (n.*34A>C) c.1647A>C (p.Gln549His) c.193+3304A>C c.1518A>C (p.Gln506His) c.1575A>C (p.Gln525His) | |
19 | g.34399961A>G | CA506999785 | GPI | c.1602A>G (p.Gln534=) c.1719A>G (p.Gln573=) c.1268A>G c.1635A>G (p.Gln545=) n.2647A>G c.*653A>G (n.*653A>G) n.2679A>G n.1340A>G c.*34A>G (n.*34A>G) c.1647A>G (p.Gln549=) c.193+3304A>G c.1518A>G (p.Gln506=) c.1575A>G (p.Gln525=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.34399961A>T | CA405246703 | GPI | c.1602A>T (p.Gln534His) c.1719A>T (p.Gln573His) c.1268A>T c.1635A>T (p.Gln545His) n.2647A>T c.*653A>T (n.*653A>T) n.2679A>T n.1340A>T c.*34A>T (n.*34A>T) c.1647A>T (p.Gln549His) c.193+3304A>T c.1518A>T (p.Gln506His) c.1575A>T (p.Gln525His) | |
19 | g.34399962G>A | CA405246704 | GPI | c.1603G>A (p.Val535Met) c.1720G>A (p.Val574Met) c.1269G>A c.1636G>A (p.Val546Met) n.2648G>A c.*654G>A (n.*654G>A) n.2680G>A n.1341G>A c.*35G>A (n.*35G>A) c.1648G>A (p.Val550Met) c.193+3305G>A c.1519G>A (p.Val507Met) c.1576G>A (p.Val526Met) | |
19 | g.34399962G>C | CA405246705 | GPI | c.1603G>C (p.Val535Leu) c.1720G>C (p.Val574Leu) c.1269G>C c.1636G>C (p.Val546Leu) n.2648G>C c.*654G>C (n.*654G>C) n.2680G>C n.1341G>C c.*35G>C (n.*35G>C) c.1648G>C (p.Val550Leu) c.193+3305G>C c.1519G>C (p.Val507Leu) c.1576G>C (p.Val526Leu) | |
19 | g.34399962G>T | CA405246706 | GPI | c.1603G>T (p.Val535Leu) c.1720G>T (p.Val574Leu) c.1269G>T c.1636G>T (p.Val546Leu) n.2648G>T c.*654G>T (n.*654G>T) n.2680G>T n.1341G>T c.*35G>T (n.*35G>T) c.1648G>T (p.Val550Leu) c.193+3305G>T c.1519G>T (p.Val507Leu) c.1576G>T (p.Val526Leu) | |
19 | g.34399963T>A | CA405246707 | GPI | c.1604T>A (p.Val535Glu) c.1721T>A (p.Val574Glu) c.1270T>A c.1637T>A (p.Val546Glu) n.2649T>A c.*655T>A (n.*655T>A) n.2681T>A n.1342T>A c.*36T>A (n.*36T>A) c.1649T>A (p.Val550Glu) c.193+3306T>A c.1520T>A (p.Val507Glu) c.1577T>A (p.Val526Glu) | |
19 | g.34399963T>C | CA405246708 | GPI | c.1604T>C (p.Val535Ala) c.1721T>C (p.Val574Ala) c.1270T>C c.1637T>C (p.Val546Ala) n.2649T>C c.*655T>C (n.*655T>C) n.2681T>C n.1342T>C c.*36T>C (n.*36T>C) c.1649T>C (p.Val550Ala) c.193+3306T>C c.1520T>C (p.Val507Ala) c.1577T>C (p.Val526Ala) | |
19 | g.34399963T>G | CA405246709 | GPI | c.1604T>G (p.Val535Gly) c.1721T>G (p.Val574Gly) c.1270T>G c.1637T>G (p.Val546Gly) n.2649T>G c.*655T>G (n.*655T>G) n.2681T>G n.1342T>G c.*36T>G (n.*36T>G) c.1649T>G (p.Val550Gly) c.193+3306T>G c.1520T>G (p.Val507Gly) c.1577T>G (p.Val526Gly) | |
19 | g.34399964G>A | CA9367491 | GPI | c.1605G>A (p.Val535=) c.1722G>A (p.Val574=) c.1271G>A c.1638G>A (p.Val546=) n.2650G>A c.*656G>A (n.*656G>A) n.2682G>A n.1343G>A c.*37G>A (n.*37G>A) c.1650G>A (p.Val550=) c.193+3307G>A c.1521G>A (p.Val507=) c.1578G>A (p.Val526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399964G>C | CA506999786 | GPI | c.1605G>C (p.Val535=) c.1722G>C (p.Val574=) c.1271G>C c.1638G>C (p.Val546=) n.2650G>C c.*656G>C (n.*656G>C) n.2682G>C n.1343G>C c.*37G>C (n.*37G>C) c.1650G>C (p.Val550=) c.193+3307G>C c.1521G>C (p.Val507=) c.1578G>C (p.Val526=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399964G= | CA2333177906 | GPI | c.1605G= (p.Val535=) c.1722G= (p.Val574=) c.1271G= c.1638G= (p.Val546=) n.2650G= c.*656G= (n.*656G=) n.2682G= n.1343G= c.*37G= (n.*37G=) c.1650G= (p.Val550=) c.193+3307G= c.1521G= (p.Val507=) c.1578G= (p.Val526=) | |
19 | g.34399964G>T | CA506999787 | GPI | c.1605G>T (p.Val535=) c.1722G>T (p.Val574=) c.1271G>T c.1638G>T (p.Val546=) n.2650G>T c.*656G>T (n.*656G>T) n.2682G>T n.1343G>T c.*37G>T (n.*37G>T) c.1650G>T (p.Val550=) c.193+3307G>T c.1521G>T (p.Val507=) c.1578G>T (p.Val526=) | |
19 | g.34399965A>C | CA405246711 | GPI | c.1606A>C (p.Thr536Pro) c.1723A>C (p.Thr575Pro) c.1272A>C c.1639A>C (p.Thr547Pro) n.2651A>C c.*657A>C (n.*657A>C) n.2683A>C n.1344A>C c.*38A>C (n.*38A>C) c.1651A>C (p.Thr551Pro) c.193+3308A>C c.1522A>C (p.Thr508Pro) c.1579A>C (p.Thr527Pro) | |
19 | g.34399965A>G | CA405246712 | GPI | c.1606A>G (p.Thr536Ala) c.1723A>G (p.Thr575Ala) c.1272A>G c.1639A>G (p.Thr547Ala) n.2651A>G c.*657A>G (n.*657A>G) n.2683A>G n.1344A>G c.*38A>G (n.*38A>G) c.1651A>G (p.Thr551Ala) c.193+3308A>G c.1522A>G (p.Thr508Ala) c.1579A>G (p.Thr527Ala) | |
19 | g.34399965A>T | CA405246710 | GPI | c.1606A>T (p.Thr536Ser) c.1723A>T (p.Thr575Ser) c.1272A>T c.1639A>T (p.Thr547Ser) n.2651A>T c.*657A>T (n.*657A>T) n.2683A>T n.1344A>T c.*38A>T (n.*38A>T) c.1651A>T (p.Thr551Ser) c.193+3308A>T c.1522A>T (p.Thr508Ser) c.1579A>T (p.Thr527Ser) | gnomAD v4 |
19 | g.34399966C>A | CA405246713 | GPI | c.1607C>A (p.Thr536Asn) c.1724C>A (p.Thr575Asn) c.1273C>A c.1640C>A (p.Thr547Asn) n.2652C>A c.*658C>A (n.*658C>A) n.2684C>A n.1345C>A c.*39C>A (n.*39C>A) c.1652C>A (p.Thr551Asn) c.193+3309C>A c.1523C>A (p.Thr508Asn) c.1580C>A (p.Thr527Asn) | |
19 | g.34399966C>G | CA405246714 | GPI | c.1607C>G (p.Thr536Ser) c.1724C>G (p.Thr575Ser) c.1273C>G c.1640C>G (p.Thr547Ser) n.2652C>G c.*658C>G (n.*658C>G) n.2684C>G n.1345C>G c.*39C>G (n.*39C>G) c.1652C>G (p.Thr551Ser) c.193+3309C>G c.1523C>G (p.Thr508Ser) c.1580C>G (p.Thr527Ser) | |
19 | g.34399966C>T | CA405246715 | GPI | c.1607C>T (p.Thr536Ile) c.1724C>T (p.Thr575Ile) c.1273C>T c.1640C>T (p.Thr547Ile) n.2652C>T c.*658C>T (n.*658C>T) n.2684C>T n.1345C>T c.*39C>T (n.*39C>T) c.1652C>T (p.Thr551Ile) c.193+3309C>T c.1523C>T (p.Thr508Ile) c.1580C>T (p.Thr527Ile) | ClinVar |
19 | g.34399967C>A | CA506999788 | GPI | c.1608C>A (p.Thr536=) c.1725C>A (p.Thr575=) c.1274C>A c.1641C>A (p.Thr547=) n.2653C>A c.*659C>A (n.*659C>A) n.2685C>A n.1346C>A c.*40C>A (n.*40C>A) c.1653C>A (p.Thr551=) c.193+3310C>A c.1524C>A (p.Thr508=) c.1581C>A (p.Thr527=) | |
19 | g.34399967C>G | CA506999789 | GPI | c.1608C>G (p.Thr536=) c.1725C>G (p.Thr575=) c.1274C>G c.1641C>G (p.Thr547=) n.2653C>G c.*659C>G (n.*659C>G) n.2685C>G n.1346C>G c.*40C>G (n.*40C>G) c.1653C>G (p.Thr551=) c.193+3310C>G c.1524C>G (p.Thr508=) c.1581C>G (p.Thr527=) | |
19 | g.34399967C>T | CA506999790 | GPI | c.1608C>T (p.Thr536=) c.1725C>T (p.Thr575=) c.1274C>T c.1641C>T (p.Thr547=) n.2653C>T c.*659C>T (n.*659C>T) n.2685C>T n.1346C>T c.*40C>T (n.*40C>T) c.1653C>T (p.Thr551=) c.193+3310C>T c.1524C>T (p.Thr508=) c.1581C>T (p.Thr527=) | gnomAD v4 |
19 | g.34399968T>A | CA405246716 | GPI | c.1609T>A (p.Ser537Thr) c.1726T>A (p.Ser576Thr) c.1275T>A c.1642T>A (p.Ser548Thr) n.2654T>A c.*660T>A (n.*660T>A) n.2686T>A n.1347T>A c.*41T>A (n.*41T>A) c.1654T>A (p.Ser552Thr) c.193+3311T>A c.1525T>A (p.Ser509Thr) c.1582T>A (p.Ser528Thr) | |
19 | g.34399968T>C | CA405246717 | GPI | c.1609T>C (p.Ser537Pro) c.1726T>C (p.Ser576Pro) c.1275T>C c.1642T>C (p.Ser548Pro) n.2654T>C c.*660T>C (n.*660T>C) n.2686T>C n.1347T>C c.*41T>C (n.*41T>C) c.1654T>C (p.Ser552Pro) c.193+3311T>C c.1525T>C (p.Ser509Pro) c.1582T>C (p.Ser528Pro) | |
19 | g.34399968T>G | CA405246718 | GPI | c.1609T>G (p.Ser537Ala) c.1726T>G (p.Ser576Ala) c.1275T>G c.1642T>G (p.Ser548Ala) n.2654T>G c.*660T>G (n.*660T>G) n.2686T>G n.1347T>G c.*41T>G (n.*41T>G) c.1654T>G (p.Ser552Ala) c.193+3311T>G c.1525T>G (p.Ser509Ala) c.1582T>G (p.Ser528Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399968T= | CA2333177907 | GPI | c.1609T= (p.Ser537=) c.1726T= (p.Ser576=) c.1275T= c.1642T= (p.Ser548=) n.2654T= c.*660T= (n.*660T=) n.2686T= n.1347T= c.*41T= (n.*41T=) c.1654T= (p.Ser552=) c.193+3311T= c.1525T= (p.Ser509=) c.1582T= (p.Ser528=) | |
19 | g.34399969C>A | CA405246720 | GPI | c.1610C>A (p.Ser537Tyr) c.1727C>A (p.Ser576Tyr) c.1276C>A c.1643C>A (p.Ser548Tyr) n.2655C>A c.*661C>A (n.*661C>A) n.2687C>A n.1348C>A c.*42C>A (n.*42C>A) c.1655C>A (p.Ser552Tyr) c.193+3312C>A c.1526C>A (p.Ser509Tyr) c.1583C>A (p.Ser528Tyr) | |
19 | g.34399969C= | CA2333177908 | GPI | c.1610C= (p.Ser537=) c.1727C= (p.Ser576=) c.1276C= c.1643C= (p.Ser548=) n.2655C= c.*661C= (n.*661C=) n.2687C= n.1348C= c.*42C= (n.*42C=) c.1655C= (p.Ser552=) c.193+3312C= c.1526C= (p.Ser509=) c.1583C= (p.Ser528=) | |
19 | g.34399969C>G | CA405246719 | GPI | c.1610C>G (p.Ser537Cys) c.1727C>G (p.Ser576Cys) c.1276C>G c.1643C>G (p.Ser548Cys) n.2655C>G c.*661C>G (n.*661C>G) n.2687C>G n.1348C>G c.*42C>G (n.*42C>G) c.1655C>G (p.Ser552Cys) c.193+3312C>G c.1526C>G (p.Ser509Cys) c.1583C>G (p.Ser528Cys) | COSMIC |
19 | g.34399969C>T | CA9367492 | GPI | c.1610C>T (p.Ser537Phe) c.1727C>T (p.Ser576Phe) c.1276C>T c.1643C>T (p.Ser548Phe) n.2655C>T c.*661C>T (n.*661C>T) n.2687C>T n.1348C>T c.*42C>T (n.*42C>T) c.1655C>T (p.Ser552Phe) c.193+3312C>T c.1526C>T (p.Ser509Phe) c.1583C>T (p.Ser528Phe) | dbSNP ExAC gnomAD v2 |
19 | g.34399970T>A | CA506999791 | GPI | c.1611T>A (p.Ser537=) c.1728T>A (p.Ser576=) c.1277T>A c.1644T>A (p.Ser548=) n.2656T>A c.*662T>A (n.*662T>A) n.2688T>A n.1349T>A c.*43T>A (n.*43T>A) c.1656T>A (p.Ser552=) c.193+3313T>A c.1527T>A (p.Ser509=) c.1584T>A (p.Ser528=) | |
19 | g.34399970T>C | CA506999792 | GPI | c.1611T>C (p.Ser537=) c.1728T>C (p.Ser576=) c.1277T>C c.1644T>C (p.Ser548=) n.2656T>C c.*662T>C (n.*662T>C) n.2688T>C n.1349T>C c.*43T>C (n.*43T>C) c.1656T>C (p.Ser552=) c.193+3313T>C c.1527T>C (p.Ser509=) c.1584T>C (p.Ser528=) | |
19 | g.34399970T>G | CA506999795 | GPI | c.1611T>G (p.Ser537=) c.1728T>G (p.Ser576=) c.1277T>G c.1644T>G (p.Ser548=) n.2656T>G c.*662T>G (n.*662T>G) n.2688T>G n.1349T>G c.*43T>G (n.*43T>G) c.1656T>G (p.Ser552=) c.193+3313T>G c.1527T>G (p.Ser509=) c.1584T>G (p.Ser528=) | |
19 | g.34399970T= | CA2333177909 | GPI | c.1611T= (p.Ser537=) c.1728T= (p.Ser576=) c.1277T= c.1644T= (p.Ser548=) n.2656T= c.*662T= (n.*662T=) n.2688T= n.1349T= c.*43T= (n.*43T=) c.1656T= (p.Ser552=) c.193+3313T= c.1527T= (p.Ser509=) c.1584T= (p.Ser528=) | |
19 | g.34399971C>A | CA405246721 | GPI | c.1612C>A (p.His538Asn) c.1729C>A (p.His577Asn) c.1278C>A c.1645C>A (p.His549Asn) n.2657C>A c.*663C>A (n.*663C>A) n.2689C>A n.1350C>A c.*44C>A (n.*44C>A) c.1657C>A (p.His553Asn) c.193+3314C>A c.1528C>A (p.His510Asn) c.1585C>A (p.His529Asn) | |
19 | g.34399971C>G | CA405246722 | GPI | c.1612C>G (p.His538Asp) c.1729C>G (p.His577Asp) c.1278C>G c.1645C>G (p.His549Asp) n.2657C>G c.*663C>G (n.*663C>G) n.2689C>G n.1350C>G c.*44C>G (n.*44C>G) c.1657C>G (p.His553Asp) c.193+3314C>G c.1528C>G (p.His510Asp) c.1585C>G (p.His529Asp) | |
19 | g.34399971C>T | CA405246723 | GPI | c.1612C>T (p.His538Tyr) c.1729C>T (p.His577Tyr) c.1278C>T c.1645C>T (p.His549Tyr) n.2657C>T c.*663C>T (n.*663C>T) n.2689C>T n.1350C>T c.*44C>T (n.*44C>T) c.1657C>T (p.His553Tyr) c.193+3314C>T c.1528C>T (p.His510Tyr) c.1585C>T (p.His529Tyr) | |
19 | g.34399971dup | CA2333177910 | GPI | c.1612dup (p.His538ProfsTer?) c.1729dup (p.His577ProfsTer?) c.1278dup c.1645dup (p.His549ProfsTer?) n.2657dup c.*663dup (n.*663dup) n.2689dup n.1350dup c.*44dup (n.*44dup) c.1657dup (p.His553ProfsTer?) c.193+3314dup c.1528dup (p.His510ProfsTer?) c.1585dup (p.His529ProfsTer?) | dbSNP gnomAD v4 |
19 | g.34399972A>C | CA405246724 | GPI | c.1613A>C (p.His538Pro) c.1730A>C (p.His577Pro) c.1279A>C c.1646A>C (p.His549Pro) n.2658A>C c.*664A>C (n.*664A>C) n.2690A>C n.1351A>C c.*45A>C (n.*45A>C) c.1658A>C (p.His553Pro) c.193+3315A>C c.1529A>C (p.His510Pro) c.1586A>C (p.His529Pro) | |
19 | g.34399972A>G | CA405246725 | GPI | c.1613A>G (p.His538Arg) c.1730A>G (p.His577Arg) c.1279A>G c.1646A>G (p.His549Arg) n.2658A>G c.*664A>G (n.*664A>G) n.2690A>G n.1351A>G c.*45A>G (n.*45A>G) c.1658A>G (p.His553Arg) c.193+3315A>G c.1529A>G (p.His510Arg) c.1586A>G (p.His529Arg) | |
19 | g.34399972A>T | CA405246726 | GPI | c.1613A>T (p.His538Leu) c.1730A>T (p.His577Leu) c.1279A>T c.1646A>T (p.His549Leu) n.2658A>T c.*664A>T (n.*664A>T) n.2690A>T n.1351A>T c.*45A>T (n.*45A>T) c.1658A>T (p.His553Leu) c.193+3315A>T c.1529A>T (p.His510Leu) c.1586A>T (p.His529Leu) | |
19 | g.34399973C>A | CA307634822 | GPI | c.1614C>A (p.His538Gln) c.1731C>A (p.His577Gln) c.1280C>A c.1647C>A (p.His549Gln) n.2659C>A c.*665C>A (n.*665C>A) n.2691C>A n.1352C>A c.*46C>A (n.*46C>A) c.1659C>A (p.His553Gln) c.193+3316C>A c.1530C>A (p.His510Gln) c.1587C>A (p.His529Gln) | dbSNP gnomAD v4 |
19 | g.34399973C= | CA2333177911 | GPI | c.1614C= (p.His538=) c.1731C= (p.His577=) c.1280C= c.1647C= (p.His549=) n.2659C= c.*665C= (n.*665C=) n.2691C= n.1352C= c.*46C= (n.*46C=) c.1659C= (p.His553=) c.193+3316C= c.1530C= (p.His510=) c.1587C= (p.His529=) | |
19 | g.34399973C>G | CA9367493 | GPI | c.1614C>G (p.His538Gln) c.1731C>G (p.His577Gln) c.1280C>G c.1647C>G (p.His549Gln) n.2659C>G c.*665C>G (n.*665C>G) n.2691C>G n.1352C>G c.*46C>G (n.*46C>G) c.1659C>G (p.His553Gln) c.193+3316C>G c.1530C>G (p.His510Gln) c.1587C>G (p.His529Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399973C>T | CA307634825 | GPI | c.1614C>T (p.His538=) c.1731C>T (p.His577=) c.1280C>T c.1647C>T (p.His549=) n.2659C>T c.*665C>T (n.*665C>T) n.2691C>T n.1352C>T c.*46C>T (n.*46C>T) c.1659C>T (p.His553=) c.193+3316C>T c.1530C>T (p.His510=) c.1587C>T (p.His529=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399974G>A | CA123317 | GPI | c.1615G>A (p.Asp539Asn) c.1732G>A (p.Asp578Asn) c.1281G>A c.1648G>A (p.Asp550Asn) n.2660G>A c.*666G>A (n.*666G>A) n.2692G>A n.1353G>A c.*47G>A (n.*47G>A) c.1660G>A (p.Asp554Asn) c.193+3317G>A c.1531G>A (p.Asp511Asn) c.1588G>A (p.Asp530Asn) | ClinVar dbSNP gnomAD v4 |
19 | g.34399974G>C | CA405246727 | GPI | c.1615G>C (p.Asp539His) c.1732G>C (p.Asp578His) c.1281G>C c.1648G>C (p.Asp550His) n.2660G>C c.*666G>C (n.*666G>C) n.2692G>C n.1353G>C c.*47G>C (n.*47G>C) c.1660G>C (p.Asp554His) c.193+3317G>C c.1531G>C (p.Asp511His) c.1588G>C (p.Asp530His) | |
19 | g.34399974G= | CA2333177912 | GPI | c.1615G= (p.Asp539=) c.1732G= (p.Asp578=) c.1281G= c.1648G= (p.Asp550=) n.2660G= c.*666G= (n.*666G=) n.2692G= n.1353G= c.*47G= (n.*47G=) c.1660G= (p.Asp554=) c.193+3317G= c.1531G= (p.Asp511=) c.1588G= (p.Asp530=) | |
19 | g.34399974G>T | CA405246728 | GPI | c.1615G>T (p.Asp539Tyr) c.1732G>T (p.Asp578Tyr) c.1281G>T c.1648G>T (p.Asp550Tyr) n.2660G>T c.*666G>T (n.*666G>T) n.2692G>T n.1353G>T c.*47G>T (n.*47G>T) c.1660G>T (p.Asp554Tyr) c.193+3317G>T c.1531G>T (p.Asp511Tyr) c.1588G>T (p.Asp530Tyr) | |
19 | g.34399975A>C | CA405246729 | GPI | c.1616A>C (p.Asp539Ala) c.1733A>C (p.Asp578Ala) c.1282A>C c.1649A>C (p.Asp550Ala) n.2661A>C c.*667A>C (n.*667A>C) n.2693A>C n.1354A>C c.*48A>C (n.*48A>C) c.1661A>C (p.Asp554Ala) c.193+3318A>C c.1532A>C (p.Asp511Ala) c.1589A>C (p.Asp530Ala) | |
19 | g.34399975A>G | CA405246730 | GPI | c.1616A>G (p.Asp539Gly) c.1733A>G (p.Asp578Gly) c.1282A>G c.1649A>G (p.Asp550Gly) n.2661A>G c.*667A>G (n.*667A>G) n.2693A>G n.1354A>G c.*48A>G (n.*48A>G) c.1661A>G (p.Asp554Gly) c.193+3318A>G c.1532A>G (p.Asp511Gly) c.1589A>G (p.Asp530Gly) | |
19 | g.34399975A>T | CA405246731 | GPI | c.1616A>T (p.Asp539Val) c.1733A>T (p.Asp578Val) c.1282A>T c.1649A>T (p.Asp550Val) n.2661A>T c.*667A>T (n.*667A>T) n.2693A>T n.1354A>T c.*48A>T (n.*48A>T) c.1661A>T (p.Asp554Val) c.193+3318A>T c.1532A>T (p.Asp511Val) c.1589A>T (p.Asp530Val) | |
19 | g.34399976C>A | CA405246732 | GPI | c.1617C>A (p.Asp539Glu) c.1734C>A (p.Asp578Glu) c.1283C>A c.1650C>A (p.Asp550Glu) n.2662C>A c.*668C>A (n.*668C>A) n.2694C>A n.1355C>A c.*49C>A (n.*49C>A) c.1662C>A (p.Asp554Glu) c.193+3319C>A c.1533C>A (p.Asp511Glu) c.1590C>A (p.Asp530Glu) | |
19 | g.34399976C= | CA2333177913 | GPI | c.1617C= (p.Asp539=) c.1734C= (p.Asp578=) c.1283C= c.1650C= (p.Asp550=) n.2662C= c.*668C= (n.*668C=) n.2694C= n.1355C= c.*49C= (n.*49C=) c.1662C= (p.Asp554=) c.193+3319C= c.1533C= (p.Asp511=) c.1590C= (p.Asp530=) | |
19 | g.34399976C>G | CA405246733 | GPI | c.1617C>G (p.Asp539Glu) c.1734C>G (p.Asp578Glu) c.1283C>G c.1650C>G (p.Asp550Glu) n.2662C>G c.*668C>G (n.*668C>G) n.2694C>G n.1355C>G c.*49C>G (n.*49C>G) c.1662C>G (p.Asp554Glu) c.193+3319C>G c.1533C>G (p.Asp511Glu) c.1590C>G (p.Asp530Glu) | |
19 | g.34399976C>T | CA9367494 | GPI | c.1617C>T (p.Asp539=) c.1734C>T (p.Asp578=) c.1283C>T c.1650C>T (p.Asp550=) n.2662C>T c.*668C>T (n.*668C>T) n.2694C>T n.1355C>T c.*49C>T (n.*49C>T) c.1662C>T (p.Asp554=) c.193+3319C>T c.1533C>T (p.Asp511=) c.1590C>T (p.Asp530=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399977G>A | CA307634834 | GPI | c.1618G>A (p.Ala540Thr) c.1735G>A (p.Ala579Thr) c.1284G>A c.1651G>A (p.Ala551Thr) n.2663G>A c.*669G>A (n.*669G>A) n.2695G>A n.1356G>A c.*50G>A (n.*50G>A) c.1663G>A (p.Ala555Thr) c.193+3320G>A c.1534G>A (p.Ala512Thr) c.1591G>A (p.Ala531Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399977G>C | CA307634836 | GPI | c.1618G>C (p.Ala540Pro) c.1735G>C (p.Ala579Pro) c.1284G>C c.1651G>C (p.Ala551Pro) n.2663G>C c.*669G>C (n.*669G>C) n.2695G>C n.1356G>C c.*50G>C (n.*50G>C) c.1663G>C (p.Ala555Pro) c.193+3320G>C c.1534G>C (p.Ala512Pro) c.1591G>C (p.Ala531Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.34399977G= | CA2333177914 | GPI | c.1618G= (p.Ala540=) c.1735G= (p.Ala579=) c.1284G= c.1651G= (p.Ala551=) n.2663G= c.*669G= (n.*669G=) n.2695G= n.1356G= c.*50G= (n.*50G=) c.1663G= (p.Ala555=) c.193+3320G= c.1534G= (p.Ala512=) c.1591G= (p.Ala531=) | |
19 | g.34399977G>T | CA405246734 | GPI | c.1618G>T (p.Ala540Ser) c.1735G>T (p.Ala579Ser) c.1284G>T c.1651G>T (p.Ala551Ser) n.2663G>T c.*669G>T (n.*669G>T) n.2695G>T n.1356G>T c.*50G>T (n.*50G>T) c.1663G>T (p.Ala555Ser) c.193+3320G>T c.1534G>T (p.Ala512Ser) c.1591G>T (p.Ala531Ser) | |
19 | g.34399978C>A | CA405246737 | GPI | c.1619C>A (p.Ala540Asp) c.1736C>A (p.Ala579Asp) c.1285C>A c.1652C>A (p.Ala551Asp) n.2664C>A c.*670C>A (n.*670C>A) n.2696C>A n.1357C>A c.*51C>A (n.*51C>A) c.1664C>A (p.Ala555Asp) c.193+3321C>A c.1535C>A (p.Ala512Asp) c.1592C>A (p.Ala531Asp) | |
19 | g.34399978C>G | CA405246736 | GPI | c.1619C>G (p.Ala540Gly) c.1736C>G (p.Ala579Gly) c.1285C>G c.1652C>G (p.Ala551Gly) n.2664C>G c.*670C>G (n.*670C>G) n.2696C>G n.1357C>G c.*51C>G (n.*51C>G) c.1664C>G (p.Ala555Gly) c.193+3321C>G c.1535C>G (p.Ala512Gly) c.1592C>G (p.Ala531Gly) | |
19 | g.34399978C>T | CA405246735 | GPI | c.1619C>T (p.Ala540Val) c.1736C>T (p.Ala579Val) c.1285C>T c.1652C>T (p.Ala551Val) n.2664C>T c.*670C>T (n.*670C>T) n.2696C>T n.1357C>T c.*51C>T (n.*51C>T) c.1664C>T (p.Ala555Val) c.193+3321C>T c.1535C>T (p.Ala512Val) c.1592C>T (p.Ala531Val) | gnomAD v4 |
19 | g.34399979T>A | CA9367495 | GPI | c.1620T>A (p.Ala540=) c.1737T>A (p.Ala579=) c.1286T>A c.1653T>A (p.Ala551=) n.2665T>A c.*671T>A (n.*671T>A) n.2697T>A n.1358T>A c.*52T>A (n.*52T>A) c.1665T>A (p.Ala555=) c.193+3322T>A c.1536T>A (p.Ala512=) c.1593T>A (p.Ala531=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399979T>C | CA506999799 | GPI | c.1620T>C (p.Ala540=) c.1737T>C (p.Ala579=) c.1286T>C c.1653T>C (p.Ala551=) n.2665T>C c.*671T>C (n.*671T>C) n.2697T>C n.1358T>C c.*52T>C (n.*52T>C) c.1665T>C (p.Ala555=) c.193+3322T>C c.1536T>C (p.Ala512=) c.1593T>C (p.Ala531=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399979T>G | CA506999800 | GPI | c.1620T>G (p.Ala540=) c.1737T>G (p.Ala579=) c.1286T>G c.1653T>G (p.Ala551=) n.2665T>G c.*671T>G (n.*671T>G) n.2697T>G n.1358T>G c.*52T>G (n.*52T>G) c.1665T>G (p.Ala555=) c.193+3322T>G c.1536T>G (p.Ala512=) c.1593T>G (p.Ala531=) | |
19 | g.34399979T= | CA2333177915 | GPI | c.1620T= (p.Ala540=) c.1737T= (p.Ala579=) c.1286T= c.1653T= (p.Ala551=) n.2665T= c.*671T= (n.*671T=) n.2697T= n.1358T= c.*52T= (n.*52T=) c.1665T= (p.Ala555=) c.193+3322T= c.1536T= (p.Ala512=) c.1593T= (p.Ala531=) | |
19 | g.34399980T>A | CA405246739 | GPI | c.1621T>A (p.Ser541Thr) c.1738T>A (p.Ser580Thr) c.1287T>A c.1654T>A (p.Ser552Thr) n.2666T>A c.*672T>A (n.*672T>A) n.2698T>A n.1359T>A c.*53T>A (n.*53T>A) c.1666T>A (p.Ser556Thr) c.193+3323T>A c.1537T>A (p.Ser513Thr) c.1594T>A (p.Ser532Thr) | |
19 | g.34399980T>C | CA405246738 | GPI | c.1621T>C (p.Ser541Pro) c.1738T>C (p.Ser580Pro) c.1287T>C c.1654T>C (p.Ser552Pro) n.2666T>C c.*672T>C (n.*672T>C) n.2698T>C n.1359T>C c.*53T>C (n.*53T>C) c.1666T>C (p.Ser556Pro) c.193+3323T>C c.1537T>C (p.Ser513Pro) c.1594T>C (p.Ser532Pro) | |
19 | g.34399980T>G | CA405246740 | GPI | c.1621T>G (p.Ser541Ala) c.1738T>G (p.Ser580Ala) c.1287T>G c.1654T>G (p.Ser552Ala) n.2666T>G c.*672T>G (n.*672T>G) n.2698T>G n.1359T>G c.*53T>G (n.*53T>G) c.1666T>G (p.Ser556Ala) c.193+3323T>G c.1537T>G (p.Ser513Ala) c.1594T>G (p.Ser532Ala) | |
19 | g.34399981C>A | CA405246741 | GPI | c.1622C>A (p.Ser541Tyr) c.1739C>A (p.Ser580Tyr) c.1288C>A c.1655C>A (p.Ser552Tyr) n.2667C>A c.*673C>A (n.*673C>A) n.2699C>A n.1360C>A c.*54C>A (n.*54C>A) c.1667C>A (p.Ser556Tyr) c.193+3324C>A c.1538C>A (p.Ser513Tyr) c.1595C>A (p.Ser532Tyr) | |
19 | g.34399981C= | CA2333177916 | GPI | c.1622C= (p.Ser541=) c.1739C= (p.Ser580=) c.1288C= c.1655C= (p.Ser552=) n.2667C= c.*673C= (n.*673C=) n.2699C= n.1360C= c.*54C= (n.*54C=) c.1667C= (p.Ser556=) c.193+3324C= c.1538C= (p.Ser513=) c.1595C= (p.Ser532=) | |
19 | g.34399981C>G | CA405246743 | GPI | c.1622C>G (p.Ser541Cys) c.1739C>G (p.Ser580Cys) c.1288C>G c.1655C>G (p.Ser552Cys) n.2667C>G c.*673C>G (n.*673C>G) n.2699C>G n.1360C>G c.*54C>G (n.*54C>G) c.1667C>G (p.Ser556Cys) c.193+3324C>G c.1538C>G (p.Ser513Cys) c.1595C>G (p.Ser532Cys) | |
19 | g.34399981C>T | CA405246742 | GPI | c.1622C>T (p.Ser541Phe) c.1739C>T (p.Ser580Phe) c.1288C>T c.1655C>T (p.Ser552Phe) n.2667C>T c.*673C>T (n.*673C>T) n.2699C>T n.1360C>T c.*54C>T (n.*54C>T) c.1667C>T (p.Ser556Phe) c.193+3324C>T c.1538C>T (p.Ser513Phe) c.1595C>T (p.Ser532Phe) | dbSNP gnomAD v2 |
19 | g.34399982T>A | CA506999802 | GPI | c.1623T>A (p.Ser541=) c.1740T>A (p.Ser580=) c.1289T>A c.1656T>A (p.Ser552=) n.2668T>A c.*674T>A (n.*674T>A) n.2700T>A n.1361T>A c.*55T>A (n.*55T>A) c.1668T>A (p.Ser556=) c.193+3325T>A c.1539T>A (p.Ser513=) c.1596T>A (p.Ser532=) | |
19 | g.34399982T>C | CA506999803 | GPI | c.1623T>C (p.Ser541=) c.1740T>C (p.Ser580=) c.1289T>C c.1656T>C (p.Ser552=) n.2668T>C c.*674T>C (n.*674T>C) n.2700T>C n.1361T>C c.*55T>C (n.*55T>C) c.1668T>C (p.Ser556=) c.193+3325T>C c.1539T>C (p.Ser513=) c.1596T>C (p.Ser532=) | |
19 | g.34399982T>G | CA506999804 | GPI | c.1623T>G (p.Ser541=) c.1740T>G (p.Ser580=) c.1289T>G c.1656T>G (p.Ser552=) n.2668T>G c.*674T>G (n.*674T>G) n.2700T>G n.1361T>G c.*55T>G (n.*55T>G) c.1668T>G (p.Ser556=) c.193+3325T>G c.1539T>G (p.Ser513=) c.1596T>G (p.Ser532=) | |
19 | g.34399983A>C | CA405246744 | GPI | c.1624A>C (p.Thr542Pro) c.1741A>C (p.Thr581Pro) c.1290A>C c.1657A>C (p.Thr553Pro) n.2669A>C c.*675A>C (n.*675A>C) n.2701A>C n.1362A>C c.*56A>C (n.*56A>C) c.1669A>C (p.Thr557Pro) c.193+3326A>C c.1540A>C (p.Thr514Pro) c.1597A>C (p.Thr533Pro) | |
19 | g.34399983A>G | CA405246746 | GPI | c.1624A>G (p.Thr542Ala) c.1741A>G (p.Thr581Ala) c.1290A>G c.1657A>G (p.Thr553Ala) n.2669A>G c.*675A>G (n.*675A>G) n.2701A>G n.1362A>G c.*56A>G (n.*56A>G) c.1669A>G (p.Thr557Ala) c.193+3326A>G c.1540A>G (p.Thr514Ala) c.1597A>G (p.Thr533Ala) | |
19 | g.34399983A>T | CA405246745 | GPI | c.1624A>T (p.Thr542Ser) c.1741A>T (p.Thr581Ser) c.1290A>T c.1657A>T (p.Thr553Ser) n.2669A>T c.*675A>T (n.*675A>T) n.2701A>T n.1362A>T c.*56A>T (n.*56A>T) c.1669A>T (p.Thr557Ser) c.193+3326A>T c.1540A>T (p.Thr514Ser) c.1597A>T (p.Thr533Ser) | |
19 | g.34399984C>A | CA405246747 | GPI | c.1625C>A (p.Thr542Asn) c.1742C>A (p.Thr581Asn) c.1291C>A c.1658C>A (p.Thr553Asn) n.2670C>A c.*676C>A (n.*676C>A) n.2702C>A n.1363C>A c.*57C>A (n.*57C>A) c.1670C>A (p.Thr557Asn) c.193+3327C>A c.1541C>A (p.Thr514Asn) c.1598C>A (p.Thr533Asn) | |
19 | g.34399984C= | CA2333177917 | GPI | c.1625C= (p.Thr542=) c.1742C= (p.Thr581=) c.1291C= c.1658C= (p.Thr553=) n.2670C= c.*676C= (n.*676C=) n.2702C= n.1363C= c.*57C= (n.*57C=) c.1670C= (p.Thr557=) c.193+3327C= c.1541C= (p.Thr514=) c.1598C= (p.Thr533=) | |
19 | g.34399984C>G | CA405246748 | GPI | c.1625C>G (p.Thr542Ser) c.1742C>G (p.Thr581Ser) c.1291C>G c.1658C>G (p.Thr553Ser) n.2670C>G c.*676C>G (n.*676C>G) n.2702C>G n.1363C>G c.*57C>G (n.*57C>G) c.1670C>G (p.Thr557Ser) c.193+3327C>G c.1541C>G (p.Thr514Ser) c.1598C>G (p.Thr533Ser) | |
19 | g.34399984C>T | CA9367496 | GPI | c.1625C>T (p.Thr542Ile) c.1742C>T (p.Thr581Ile) c.1291C>T c.1658C>T (p.Thr553Ile) n.2670C>T c.*676C>T (n.*676C>T) n.2702C>T n.1363C>T c.*57C>T (n.*57C>T) c.1670C>T (p.Thr557Ile) c.193+3327C>T c.1541C>T (p.Thr514Ile) c.1598C>T (p.Thr533Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399985C>A | CA506999805 | GPI | c.1626C>A (p.Thr542=) c.1743C>A (p.Thr581=) c.1292C>A c.1659C>A (p.Thr553=) n.2671C>A c.*677C>A (n.*677C>A) n.2703C>A n.1364C>A c.*58C>A (n.*58C>A) c.1671C>A (p.Thr557=) c.193+3328C>A c.1542C>A (p.Thr514=) c.1599C>A (p.Thr533=) | |
19 | g.34399985C>G | CA506999806 | GPI | c.1626C>G (p.Thr542=) c.1743C>G (p.Thr581=) c.1292C>G c.1659C>G (p.Thr553=) n.2671C>G c.*677C>G (n.*677C>G) n.2703C>G n.1364C>G c.*58C>G (n.*58C>G) c.1671C>G (p.Thr557=) c.193+3328C>G c.1542C>G (p.Thr514=) c.1599C>G (p.Thr533=) | |
19 | g.34399985C>T | CA506999807 | GPI | c.1626C>T (p.Thr542=) c.1743C>T (p.Thr581=) c.1292C>T c.1659C>T (p.Thr553=) n.2671C>T c.*677C>T (n.*677C>T) n.2703C>T n.1364C>T c.*58C>T (n.*58C>T) c.1671C>T (p.Thr557=) c.193+3328C>T c.1542C>T (p.Thr514=) c.1599C>T (p.Thr533=) | |
19 | g.34399986A>C | CA405246749 | GPI | c.1627A>C (p.Asn543His) c.1744A>C (p.Asn582His) c.1293A>C c.1660A>C (p.Asn554His) n.2672A>C c.*678A>C (n.*678A>C) n.2704A>C n.1365A>C c.*59A>C (n.*59A>C) c.1672A>C (p.Asn558His) c.193+3329A>C c.1543A>C (p.Asn515His) c.1600A>C (p.Asn534His) | |
19 | g.34399986A>G | CA405246751 | GPI | c.1627A>G (p.Asn543Asp) c.1744A>G (p.Asn582Asp) c.1293A>G c.1660A>G (p.Asn554Asp) n.2672A>G c.*678A>G (n.*678A>G) n.2704A>G n.1365A>G c.*59A>G (n.*59A>G) c.1672A>G (p.Asn558Asp) c.193+3329A>G c.1543A>G (p.Asn515Asp) c.1600A>G (p.Asn534Asp) | |
19 | g.34399986A>T | CA405246750 | GPI | c.1627A>T (p.Asn543Tyr) c.1744A>T (p.Asn582Tyr) c.1293A>T c.1660A>T (p.Asn554Tyr) n.2672A>T c.*678A>T (n.*678A>T) n.2704A>T n.1365A>T c.*59A>T (n.*59A>T) c.1672A>T (p.Asn558Tyr) c.193+3329A>T c.1543A>T (p.Asn515Tyr) c.1600A>T (p.Asn534Tyr) | |
19 | g.34399987A= | CA2333177918 | GPI | c.1628A= (p.Asn543=) c.1745A= (p.Asn582=) c.1294A= c.1661A= (p.Asn554=) n.2673A= c.*679A= (n.*679A=) n.2705A= n.1366A= c.*60A= (n.*60A=) c.1673A= (p.Asn558=) c.193+3330A= c.1544A= (p.Asn515=) c.1601A= (p.Asn534=) | |
19 | g.34399987A>C | CA405246752 | GPI | c.1628A>C (p.Asn543Thr) c.1745A>C (p.Asn582Thr) c.1294A>C c.1661A>C (p.Asn554Thr) n.2673A>C c.*679A>C (n.*679A>C) n.2705A>C n.1366A>C c.*60A>C (n.*60A>C) c.1673A>C (p.Asn558Thr) c.193+3330A>C c.1544A>C (p.Asn515Thr) c.1601A>C (p.Asn534Thr) | |
19 | g.34399987A>G | CA9367497 | GPI | c.1628A>G (p.Asn543Ser) c.1745A>G (p.Asn582Ser) c.1294A>G c.1661A>G (p.Asn554Ser) n.2673A>G c.*679A>G (n.*679A>G) n.2705A>G n.1366A>G c.*60A>G (n.*60A>G) c.1673A>G (p.Asn558Ser) c.193+3330A>G c.1544A>G (p.Asn515Ser) c.1601A>G (p.Asn534Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.34399987A>T | CA405246753 | GPI | c.1628A>T (p.Asn543Ile) c.1745A>T (p.Asn582Ile) c.1294A>T c.1661A>T (p.Asn554Ile) n.2673A>T c.*679A>T (n.*679A>T) n.2705A>T n.1366A>T c.*60A>T (n.*60A>T) c.1673A>T (p.Asn558Ile) c.193+3330A>T c.1544A>T (p.Asn515Ile) c.1601A>T (p.Asn534Ile) | |
19 | g.34399988T>A | CA405246754 | GPI | c.1629T>A (p.Asn543Lys) c.1746T>A (p.Asn582Lys) c.1295T>A c.1662T>A (p.Asn554Lys) n.2674T>A c.*680T>A (n.*680T>A) n.2706T>A n.1367T>A c.*61T>A (n.*61T>A) c.1674T>A (p.Asn558Lys) c.193+3331T>A c.1545T>A (p.Asn515Lys) c.1602T>A (p.Asn534Lys) | |
19 | g.34399988T>C | CA506999811 | GPI | c.1629T>C (p.Asn543=) c.1746T>C (p.Asn582=) c.1295T>C c.1662T>C (p.Asn554=) n.2674T>C c.*680T>C (n.*680T>C) n.2706T>C n.1367T>C c.*61T>C (n.*61T>C) c.1674T>C (p.Asn558=) c.193+3331T>C c.1545T>C (p.Asn515=) c.1602T>C (p.Asn534=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.34399988T>G | CA405246755 | GPI | c.1629T>G (p.Asn543Lys) c.1746T>G (p.Asn582Lys) c.1295T>G c.1662T>G (p.Asn554Lys) n.2674T>G c.*680T>G (n.*680T>G) n.2706T>G n.1367T>G c.*61T>G (n.*61T>G) c.1674T>G (p.Asn558Lys) c.193+3331T>G c.1545T>G (p.Asn515Lys) c.1602T>G (p.Asn534Lys) | |
19 | g.34399988T= | CA2333177919 | GPI | c.1629T= (p.Asn543=) c.1746T= (p.Asn582=) c.1295T= c.1662T= (p.Asn554=) n.2674T= c.*680T= (n.*680T=) n.2706T= n.1367T= c.*61T= (n.*61T=) c.1674T= (p.Asn558=) c.193+3331T= c.1545T= (p.Asn515=) c.1602T= (p.Asn534=) | |
19 | g.34399989G>A | CA405246756 | GPI | c.1630G>A (p.Gly544Arg) c.1747G>A (p.Gly583Arg) c.1296G>A c.1663G>A (p.Gly555Arg) n.2675G>A c.*681G>A (n.*681G>A) n.2707G>A n.1368G>A c.*62G>A (n.*62G>A) c.1675G>A (p.Gly559Arg) c.193+3332G>A c.1546G>A (p.Gly516Arg) c.1603G>A (p.Gly535Arg) | gnomAD v4 |
19 | g.34399989G>C | CA405246757 | GPI | c.1630G>C (p.Gly544Arg) c.1747G>C (p.Gly583Arg) c.1296G>C c.1663G>C (p.Gly555Arg) n.2675G>C c.*681G>C (n.*681G>C) n.2707G>C n.1368G>C c.*62G>C (n.*62G>C) c.1675G>C (p.Gly559Arg) c.193+3332G>C c.1546G>C (p.Gly516Arg) c.1603G>C (p.Gly535Arg) | |
19 | g.34399989G>T | CA405246758 | GPI | c.1630G>T (p.Gly544Trp) c.1747G>T (p.Gly583Trp) c.1296G>T c.1663G>T (p.Gly555Trp) n.2675G>T c.*681G>T (n.*681G>T) n.2707G>T n.1368G>T c.*62G>T (n.*62G>T) c.1675G>T (p.Gly559Trp) c.193+3332G>T c.1546G>T (p.Gly516Trp) c.1603G>T (p.Gly535Trp) | |
19 | g.34399990G>A | CA405246759 | GPI | c.1631G>A (p.Gly544Glu) c.1748G>A (p.Gly583Glu) c.1297G>A c.1664G>A (p.Gly555Glu) n.2676G>A c.*682G>A (n.*682G>A) n.2708G>A n.1369G>A c.*63G>A (n.*63G>A) c.1676G>A (p.Gly559Glu) c.193+3333G>A c.1547G>A (p.Gly516Glu) c.1604G>A (p.Gly535Glu) | dbSNP gnomAD v4 |
19 | g.34399990G>C | CA405246760 | GPI | c.1631G>C (p.Gly544Ala) c.1748G>C (p.Gly583Ala) c.1297G>C c.1664G>C (p.Gly555Ala) n.2676G>C c.*682G>C (n.*682G>C) n.2708G>C n.1369G>C c.*63G>C (n.*63G>C) c.1676G>C (p.Gly559Ala) c.193+3333G>C c.1547G>C (p.Gly516Ala) c.1604G>C (p.Gly535Ala) | |
19 | g.34399990G= | CA2333177920 | GPI | c.1631G= (p.Gly544=) c.1748G= (p.Gly583=) c.1297G= c.1664G= (p.Gly555=) n.2676G= c.*682G= (n.*682G=) n.2708G= n.1369G= c.*63G= (n.*63G=) c.1676G= (p.Gly559=) c.193+3333G= c.1547G= (p.Gly516=) c.1604G= (p.Gly535=) | |
19 | g.34399990G>T | CA405246761 | GPI | c.1631G>T (p.Gly544Val) c.1748G>T (p.Gly583Val) c.1297G>T c.1664G>T (p.Gly555Val) n.2676G>T c.*682G>T (n.*682G>T) n.2708G>T n.1369G>T c.*63G>T (n.*63G>T) c.1676G>T (p.Gly559Val) c.193+3333G>T c.1547G>T (p.Gly516Val) c.1604G>T (p.Gly535Val) | |
19 | g.34399991G>A | CA307634843 | GPI | c.1632G>A (p.Gly544=) c.1749G>A (p.Gly583=) c.1298G>A c.1665G>A (p.Gly555=) n.2677G>A c.*683G>A (n.*683G>A) n.2709G>A n.1370G>A c.*64G>A (n.*64G>A) c.1677G>A (p.Gly559=) c.193+3334G>A c.1548G>A (p.Gly516=) c.1605G>A (p.Gly535=) | dbSNP gnomAD v4 |
19 | g.34399991G>C | CA506999812 | GPI | c.1632G>C (p.Gly544=) c.1749G>C (p.Gly583=) c.1298G>C c.1665G>C (p.Gly555=) n.2677G>C c.*683G>C (n.*683G>C) n.2709G>C n.1370G>C c.*64G>C (n.*64G>C) c.1677G>C (p.Gly559=) c.193+3334G>C c.1548G>C (p.Gly516=) c.1605G>C (p.Gly535=) | |
19 | g.34399991G= | CA2333177921 | GPI | c.1632G= (p.Gly544=) c.1749G= (p.Gly583=) c.1298G= c.1665G= (p.Gly555=) n.2677G= c.*683G= (n.*683G=) n.2709G= n.1370G= c.*64G= (n.*64G=) c.1677G= (p.Gly559=) c.193+3334G= c.1548G= (p.Gly516=) c.1605G= (p.Gly535=) | |
19 | g.34399991G>T | CA9367498 | GPI | c.1632G>T (p.Gly544=) c.1749G>T (p.Gly583=) c.1298G>T c.1665G>T (p.Gly555=) n.2677G>T c.*683G>T (n.*683G>T) n.2709G>T n.1370G>T c.*64G>T (n.*64G>T) c.1677G>T (p.Gly559=) c.193+3334G>T c.1548G>T (p.Gly516=) c.1605G>T (p.Gly535=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.34399992C>A | CA405246762 | GPI | c.1633C>A (p.Leu545Ile) c.1750C>A (p.Leu584Ile) c.1299C>A c.1666C>A (p.Leu556Ile) n.2678C>A c.*684C>A (n.*684C>A) n.2710C>A n.1371C>A c.*65C>A (n.*65C>A) c.1678C>A (p.Leu560Ile) c.193+3335C>A c.1549C>A (p.Leu517Ile) c.1606C>A (p.Leu536Ile) | |
19 | g.34399992C= | CA2333177922 | GPI | c.1633C= (p.Leu545=) c.1750C= (p.Leu584=) c.1299C= c.1666C= (p.Leu556=) n.2678C= c.*684C= (n.*684C=) n.2710C= n.1371C= c.*65C= (n.*65C=) c.1678C= (p.Leu560=) c.193+3335C= c.1549C= (p.Leu517=) c.1606C= (p.Leu536=) | |
19 | g.34399992C>G | CA405246764 | GPI | c.1633C>G (p.Leu545Val) c.1750C>G (p.Leu584Val) c.1299C>G c.1666C>G (p.Leu556Val) n.2678C>G c.*684C>G (n.*684C>G) n.2710C>G n.1371C>G c.*65C>G (n.*65C>G) c.1678C>G (p.Leu560Val) c.193+3335C>G c.1549C>G (p.Leu517Val) c.1606C>G (p.Leu536Val) | |
19 | g.34399992C>T | CA405246763 | GPI | c.1633C>T (p.Leu545Phe) c.1750C>T (p.Leu584Phe) c.1299C>T c.1666C>T (p.Leu556Phe) n.2678C>T c.*684C>T (n.*684C>T) n.2710C>T n.1371C>T c.*65C>T (n.*65C>T) c.1678C>T (p.Leu560Phe) c.193+3335C>T c.1549C>T (p.Leu517Phe) c.1606C>T (p.Leu536Phe) | dbSNP |
19 | g.34399993T>A | CA405246765 | GPI | c.1634T>A (p.Leu545His) c.1751T>A (p.Leu584His) c.1300T>A c.1667T>A (p.Leu556His) n.2679T>A c.*685T>A (n.*685T>A) n.2711T>A n.1372T>A c.*66T>A (n.*66T>A) c.1679T>A (p.Leu560His) c.193+3336T>A c.1550T>A (p.Leu517His) c.1607T>A (p.Leu536His) | |
19 | g.34399993T>C | CA405246766 | GPI | c.1634T>C (p.Leu545Pro) c.1751T>C (p.Leu584Pro) c.1300T>C c.1667T>C (p.Leu556Pro) n.2679T>C c.*685T>C (n.*685T>C) n.2711T>C n.1372T>C c.*66T>C (n.*66T>C) c.1679T>C (p.Leu560Pro) c.193+3336T>C c.1550T>C (p.Leu517Pro) c.1607T>C (p.Leu536Pro) | |
19 | g.34399993T>G | CA405246767 | GPI | c.1634T>G (p.Leu545Arg) c.1751T>G (p.Leu584Arg) c.1300T>G c.1667T>G (p.Leu556Arg) n.2679T>G c.*685T>G (n.*685T>G) n.2711T>G n.1372T>G c.*66T>G (n.*66T>G) c.1679T>G (p.Leu560Arg) c.193+3336T>G c.1550T>G (p.Leu517Arg) c.1607T>G (p.Leu536Arg) | |
19 | g.34399994C>A | CA506999813 | GPI | c.1635C>A (p.Leu545=) c.1752C>A (p.Leu584=) c.1301C>A c.1668C>A (p.Leu556=) n.2680C>A c.*686C>A (n.*686C>A) n.2712C>A n.1373C>A c.*67C>A (n.*67C>A) c.1680C>A (p.Leu560=) c.193+3337C>A c.1551C>A (p.Leu517=) c.1608C>A (p.Leu536=) | |
19 | g.34399994C= | CA2333177923 | GPI | c.1635C= (p.Leu545=) c.1752C= (p.Leu584=) c.1301C= c.1668C= (p.Leu556=) n.2680C= c.*686C= (n.*686C=) n.2712C= n.1373C= c.*67C= (n.*67C=) c.1680C= (p.Leu560=) c.193+3337C= c.1551C= (p.Leu517=) c.1608C= (p.Leu536=) | |
19 | g.34399994C>G | CA506999814 | GPI | c.1635C>G (p.Leu545=) c.1752C>G (p.Leu584=) c.1301C>G c.1668C>G (p.Leu556=) n.2680C>G c.*686C>G (n.*686C>G) n.2712C>G n.1373C>G c.*67C>G (n.*67C>G) c.1680C>G (p.Leu560=) c.193+3337C>G c.1551C>G (p.Leu517=) c.1608C>G (p.Leu536=) | |
19 | g.34399994C>T | CA9367499 | GPI | c.1635C>T (p.Leu545=) c.1752C>T (p.Leu584=) c.1301C>T c.1668C>T (p.Leu556=) n.2680C>T c.*686C>T (n.*686C>T) n.2712C>T n.1373C>T c.*67C>T (n.*67C>T) c.1680C>T (p.Leu560=) c.193+3337C>T c.1551C>T (p.Leu517=) c.1608C>T (p.Leu536=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |