Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127048500G>ACA1856914BIN1c.*26C>T (n.*26C>T)
n.4674C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048500G>CCA2660970036BIN1c.*26C>G (n.*26C>G)
n.4674C>G
 gnomAD v4
2g.127048500G=CA1286710685BIN1c.*26C= (n.*26C=)
n.4674C=
2g.127048500G>TCA535632911BIN1c.*26C>A (n.*26C>A)
n.4674C>A
 dbSNP gnomAD v2 gnomAD v4
2g.127048502C>TCA2660970038BIN1c.*24G>A (n.*24G>A)
n.4672G>A
 gnomAD v4
2g.127048503C=CA1286710686BIN1c.*23G= (n.*23G=)
n.4671G=
2g.127048503C>GCA535632914BIN1c.*23G>C (n.*23G>C)
n.4671G>C
 dbSNP gnomAD v2 gnomAD v4
2g.127048503C>TCA1856915BIN1c.*23G>A (n.*23G>A)
n.4671G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048504G>ACA1856916BIN1c.*22C>T (n.*22C>T)
n.4670C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048504G=CA1286710687BIN1c.*22C= (n.*22C=)
n.4670C=
2g.127048506A=CA1286710688BIN1c.*20T= (n.*20T=)
n.4668T=
2g.127048506A>CCA756598788BIN1c.*20T>G (n.*20T>G)
n.4668T>G
 dbSNP
2g.127048508G>ACA756598789BIN1c.*18C>T (n.*18C>T)
n.4666C>T
 dbSNP gnomAD v3 gnomAD v4
2g.127048508G>CCA2660970049BIN1c.*18C>G (n.*18C>G)
n.4666C>G
 gnomAD v4
2g.127048508G=CA1286710689BIN1c.*18C= (n.*18C=)
n.4666C=
2g.127048508G>TCA2577088211BIN1c.*18C>A (n.*18C>A)
n.4666C>A
2g.127048510T>CCA2660970051BIN1c.*16A>G (n.*16A>G)
n.4664A>G
 gnomAD v4
2g.127048511G=CA1286710690BIN1c.*15C= (n.*15C=)
n.4663C=
2g.127048511G>TCA55334888BIN1c.*15C>A (n.*15C>A)
n.4663C>A
 dbSNP
2g.127048515G>ACA1856917BIN1c.*11C>T (n.*11C>T)
n.4659C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048515G>CCA2660970055BIN1c.*11C>G (n.*11C>G)
n.4659C>G
 gnomAD v4
2g.127048515G=CA1286710691BIN1c.*11C= (n.*11C=)
n.4659C=
2g.127048515G>TCA2577088212BIN1c.*11C>A (n.*11C>A)
n.4659C>A
2g.127048516G>ACA535632917BIN1c.*10C>T (n.*10C>T)
n.4658C>T
 dbSNP gnomAD v2
2g.127048516G>CCA1286710693BIN1c.*10C>G (n.*10C>G)
n.4658C>G
 dbSNP gnomAD v4
2g.127048516G=CA1286710692BIN1c.*10C= (n.*10C=)
n.4658C=
2g.127048517G>ACA756598798BIN1c.*9C>T (n.*9C>T)
n.4657C>T
 dbSNP gnomAD v3 gnomAD v4
2g.127048517G=CA1286710694BIN1c.*9C= (n.*9C=)
n.4657C=
2g.127048517G>TCA1856918BIN1c.*9C>A (n.*9C>A)
n.4657C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048518C=CA1286710695BIN1c.*8G= (n.*8G=)
n.4656G=
2g.127048518C>TCA1856919BIN1c.*8G>A (n.*8G>A)
n.4656G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048520C=CA1286710696BIN1c.*6G= (n.*6G=)
n.4654G=
2g.127048520C>TCA756598805BIN1c.*6G>A (n.*6G>A)
n.4654G>A
 dbSNP gnomAD v3 gnomAD v4
2g.127048521C=CA1286710697BIN1c.*5G= (n.*5G=)
n.4653G=
2g.127048521C>TCA1856920BIN1c.*5G>A (n.*5G>A)
n.4653G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048522G>ACA535632922BIN1c.*4C>T (n.*4C>T)
n.4652C>T
 dbSNP gnomAD v2 gnomAD v4
2g.127048522G>CCA1856921BIN1c.*4C>G (n.*4C>G)
n.4652C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048522G=CA1286710698BIN1c.*4C= (n.*4C=)
n.4652C=
2g.127048524C=CA1286710699BIN1c.*2G= (n.*2G=)
n.4650G=
2g.127048524C>TCA535632924BIN1c.*2G>A (n.*2G>A)
n.4650G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127048525G>ACA1856922BIN1c.*1C>T (n.*1C>T)
n.4649C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048525G=CA1286710700BIN1c.*1C= (n.*1C=)
n.4649C=
2g.127048526T>ACA348373248BIN1c.1365A>T (p.Ter455Cys)
c.1782A>T (p.Ter594Cys)
c.1494A>T (p.Ter498Cys)
c.1557A>T (p.Ter519Cys)
c.1230A>T (p.Ter410Cys)
c.1521A>T (p.Ter507Cys)
c.1653A>T (p.Ter551Cys)
c.1275A>T (p.Ter425Cys)
c.1449A>T (p.Ter483Cys)
c.1428A>T (p.Ter476Cys)
c.1320A>T (p.Ter440Cys)
n.4648A>T
c.1827A>T (p.Ter609Cys)
c.1734A>T (p.Ter578Cys)
c.1689A>T (p.Ter563Cys)
c.1662A>T (p.Ter554Cys)
c.1413A>T (p.Ter471Cys)
c.1158A>T (p.Ter386Cys)
c.1695A>T (p.Ter565Cys)
c.1617A>T (p.Ter539Cys)
c.1587A>T (p.Ter529Cys)
c.1566A>T (p.Ter522Cys)
c.1542A>T (p.Ter514Cys)
c.1497A>T (p.Ter499Cys)
c.1458A>T (p.Ter486Cys)
c.1368A>T (p.Ter456Cys)
c.1323A>T (p.Ter441Cys)
c.1746A>T (p.Ter582Cys)
c.1701A>T (p.Ter567Cys)
c.1755A>T (p.Ter585Cys)
c.1452A>T (p.Ter484Cys)
c.1359A>T (p.Ter453Cys)
c.1356A>T (p.Ter452Cys)
c.1287A>T (p.Ter429Cys)
c.1251A>T (p.Ter417Cys)
c.1248A>T (p.Ter416Cys)
c.1155A>T (p.Ter385Cys)
c.1110A>T (p.Ter370Cys)
2g.127048526T>CCA348373249BIN1c.1365A>G (p.Ter455Trp)
c.1782A>G (p.Ter594Trp)
c.1494A>G (p.Ter498Trp)
c.1557A>G (p.Ter519Trp)
c.1230A>G (p.Ter410Trp)
c.1521A>G (p.Ter507Trp)
c.1653A>G (p.Ter551Trp)
c.1275A>G (p.Ter425Trp)
c.1449A>G (p.Ter483Trp)
c.1428A>G (p.Ter476Trp)
c.1320A>G (p.Ter440Trp)
n.4648A>G
c.1827A>G (p.Ter609Trp)
c.1734A>G (p.Ter578Trp)
c.1689A>G (p.Ter563Trp)
c.1662A>G (p.Ter554Trp)
c.1413A>G (p.Ter471Trp)
c.1158A>G (p.Ter386Trp)
c.1695A>G (p.Ter565Trp)
c.1617A>G (p.Ter539Trp)
c.1587A>G (p.Ter529Trp)
c.1566A>G (p.Ter522Trp)
c.1542A>G (p.Ter514Trp)
c.1497A>G (p.Ter499Trp)
c.1458A>G (p.Ter486Trp)
c.1368A>G (p.Ter456Trp)
c.1323A>G (p.Ter441Trp)
c.1746A>G (p.Ter582Trp)
c.1701A>G (p.Ter567Trp)
c.1755A>G (p.Ter585Trp)
c.1452A>G (p.Ter484Trp)
c.1359A>G (p.Ter453Trp)
c.1356A>G (p.Ter452Trp)
c.1287A>G (p.Ter429Trp)
c.1251A>G (p.Ter417Trp)
c.1248A>G (p.Ter416Trp)
c.1155A>G (p.Ter385Trp)
c.1110A>G (p.Ter370Trp)
2g.127048526T>GCA348373250BIN1c.1365A>C (p.Ter455Cys)
c.1782A>C (p.Ter594Cys)
c.1494A>C (p.Ter498Cys)
c.1557A>C (p.Ter519Cys)
c.1230A>C (p.Ter410Cys)
c.1521A>C (p.Ter507Cys)
c.1653A>C (p.Ter551Cys)
c.1275A>C (p.Ter425Cys)
c.1449A>C (p.Ter483Cys)
c.1428A>C (p.Ter476Cys)
c.1320A>C (p.Ter440Cys)
n.4648A>C
c.1827A>C (p.Ter609Cys)
c.1734A>C (p.Ter578Cys)
c.1689A>C (p.Ter563Cys)
c.1662A>C (p.Ter554Cys)
c.1413A>C (p.Ter471Cys)
c.1158A>C (p.Ter386Cys)
c.1695A>C (p.Ter565Cys)
c.1617A>C (p.Ter539Cys)
c.1587A>C (p.Ter529Cys)
c.1566A>C (p.Ter522Cys)
c.1542A>C (p.Ter514Cys)
c.1497A>C (p.Ter499Cys)
c.1458A>C (p.Ter486Cys)
c.1368A>C (p.Ter456Cys)
c.1323A>C (p.Ter441Cys)
c.1746A>C (p.Ter582Cys)
c.1701A>C (p.Ter567Cys)
c.1755A>C (p.Ter585Cys)
c.1452A>C (p.Ter484Cys)
c.1359A>C (p.Ter453Cys)
c.1356A>C (p.Ter452Cys)
c.1287A>C (p.Ter429Cys)
c.1251A>C (p.Ter417Cys)
c.1248A>C (p.Ter416Cys)
c.1155A>C (p.Ter385Cys)
c.1110A>C (p.Ter370Cys)
2g.127048527C>ACA348373251BIN1c.1364G>T (p.Ter455Leu)
c.1781G>T (p.Ter594Leu)
c.1493G>T (p.Ter498Leu)
c.1556G>T (p.Ter519Leu)
c.1229G>T (p.Ter410Leu)
c.1520G>T (p.Ter507Leu)
c.1652G>T (p.Ter551Leu)
c.1274G>T (p.Ter425Leu)
c.1448G>T (p.Ter483Leu)
c.1427G>T (p.Ter476Leu)
c.1319G>T (p.Ter440Leu)
n.4647G>T
c.1826G>T (p.Ter609Leu)
c.1733G>T (p.Ter578Leu)
c.1688G>T (p.Ter563Leu)
c.1661G>T (p.Ter554Leu)
c.1412G>T (p.Ter471Leu)
c.1157G>T (p.Ter386Leu)
c.1694G>T (p.Ter565Leu)
c.1616G>T (p.Ter539Leu)
c.1586G>T (p.Ter529Leu)
c.1565G>T (p.Ter522Leu)
c.1541G>T (p.Ter514Leu)
c.1496G>T (p.Ter499Leu)
c.1457G>T (p.Ter486Leu)
c.1367G>T (p.Ter456Leu)
c.1322G>T (p.Ter441Leu)
c.1745G>T (p.Ter582Leu)
c.1700G>T (p.Ter567Leu)
c.1754G>T (p.Ter585Leu)
c.1451G>T (p.Ter484Leu)
c.1358G>T (p.Ter453Leu)
c.1355G>T (p.Ter452Leu)
c.1286G>T (p.Ter429Leu)
c.1250G>T (p.Ter417Leu)
c.1247G>T (p.Ter416Leu)
c.1154G>T (p.Ter385Leu)
c.1109G>T (p.Ter370Leu)
 COSMIC COSMIC
2g.127048527C=CA1286710701BIN1c.1364G= (p.Ter455=)
c.1781G= (p.Ter594=)
c.1493G= (p.Ter498=)
c.1556G= (p.Ter519=)
c.1229G= (p.Ter410=)
c.1520G= (p.Ter507=)
c.1652G= (p.Ter551=)
c.1274G= (p.Ter425=)
c.1448G= (p.Ter483=)
c.1427G= (p.Ter476=)
c.1319G= (p.Ter440=)
n.4647G=
c.1826G= (p.Ter609=)
c.1733G= (p.Ter578=)
c.1688G= (p.Ter563=)
c.1661G= (p.Ter554=)
c.1412G= (p.Ter471=)
c.1157G= (p.Ter386=)
c.1694G= (p.Ter565=)
c.1616G= (p.Ter539=)
c.1586G= (p.Ter529=)
c.1565G= (p.Ter522=)
c.1541G= (p.Ter514=)
c.1496G= (p.Ter499=)
c.1457G= (p.Ter486=)
c.1367G= (p.Ter456=)
c.1322G= (p.Ter441=)
c.1745G= (p.Ter582=)
c.1700G= (p.Ter567=)
c.1754G= (p.Ter585=)
c.1451G= (p.Ter484=)
c.1358G= (p.Ter453=)
c.1355G= (p.Ter452=)
c.1286G= (p.Ter429=)
c.1250G= (p.Ter417=)
c.1247G= (p.Ter416=)
c.1154G= (p.Ter385=)
c.1109G= (p.Ter370=)
2g.127048527C>GCA348373253BIN1c.1364G>C (p.Ter455Ser)
c.1781G>C (p.Ter594Ser)
c.1493G>C (p.Ter498Ser)
c.1556G>C (p.Ter519Ser)
c.1229G>C (p.Ter410Ser)
c.1520G>C (p.Ter507Ser)
c.1652G>C (p.Ter551Ser)
c.1274G>C (p.Ter425Ser)
c.1448G>C (p.Ter483Ser)
c.1427G>C (p.Ter476Ser)
c.1319G>C (p.Ter440Ser)
n.4647G>C
c.1826G>C (p.Ter609Ser)
c.1733G>C (p.Ter578Ser)
c.1688G>C (p.Ter563Ser)
c.1661G>C (p.Ter554Ser)
c.1412G>C (p.Ter471Ser)
c.1157G>C (p.Ter386Ser)
c.1694G>C (p.Ter565Ser)
c.1616G>C (p.Ter539Ser)
c.1586G>C (p.Ter529Ser)
c.1565G>C (p.Ter522Ser)
c.1541G>C (p.Ter514Ser)
c.1496G>C (p.Ter499Ser)
c.1457G>C (p.Ter486Ser)
c.1367G>C (p.Ter456Ser)
c.1322G>C (p.Ter441Ser)
c.1745G>C (p.Ter582Ser)
c.1700G>C (p.Ter567Ser)
c.1754G>C (p.Ter585Ser)
c.1451G>C (p.Ter484Ser)
c.1358G>C (p.Ter453Ser)
c.1355G>C (p.Ter452Ser)
c.1286G>C (p.Ter429Ser)
c.1250G>C (p.Ter417Ser)
c.1247G>C (p.Ter416Ser)
c.1154G>C (p.Ter385Ser)
c.1109G>C (p.Ter370Ser)
2g.127048527C>TCA55334919BIN1c.1364G>A (p.Ter455=)
c.1781G>A (p.Ter594=)
c.1493G>A (p.Ter498=)
c.1556G>A (p.Ter519=)
c.1229G>A (p.Ter410=)
c.1520G>A (p.Ter507=)
c.1652G>A (p.Ter551=)
c.1274G>A (p.Ter425=)
c.1448G>A (p.Ter483=)
c.1427G>A (p.Ter476=)
c.1319G>A (p.Ter440=)
n.4647G>A
c.1826G>A (p.Ter609=)
c.1733G>A (p.Ter578=)
c.1688G>A (p.Ter563=)
c.1661G>A (p.Ter554=)
c.1412G>A (p.Ter471=)
c.1157G>A (p.Ter386=)
c.1694G>A (p.Ter565=)
c.1616G>A (p.Ter539=)
c.1586G>A (p.Ter529=)
c.1565G>A (p.Ter522=)
c.1541G>A (p.Ter514=)
c.1496G>A (p.Ter499=)
c.1457G>A (p.Ter486=)
c.1367G>A (p.Ter456=)
c.1322G>A (p.Ter441=)
c.1745G>A (p.Ter582=)
c.1700G>A (p.Ter567=)
c.1754G>A (p.Ter585=)
c.1451G>A (p.Ter484=)
c.1358G>A (p.Ter453=)
c.1355G>A (p.Ter452=)
c.1286G>A (p.Ter429=)
c.1250G>A (p.Ter417=)
c.1247G>A (p.Ter416=)
c.1154G>A (p.Ter385=)
c.1109G>A (p.Ter370=)
 dbSNP gnomAD v3 gnomAD v4
2g.127048528delCA915940933BIN1c.1363del (p.Ter455AspextTer?)
c.1780del (p.Ter594AspextTer?)
c.1492del (p.Ter498AspextTer?)
c.1555del (p.Ter519AspextTer?)
c.1228del (p.Ter410AspextTer?)
c.1519del (p.Ter507AspextTer?)
c.1651del (p.Ter551AspextTer?)
c.1273del (p.Ter425AspextTer?)
c.1447del (p.Ter483AspextTer?)
c.1426del (p.Ter476AspextTer?)
c.1318del (p.Ter440AspextTer?)
n.4646del
c.1825del (p.Ter609AspextTer?)
c.1732del (p.Ter578AspextTer?)
c.1687del (p.Ter563AspextTer?)
c.1660del (p.Ter554AspextTer?)
c.1411del (p.Ter471AspextTer?)
c.1156del (p.Ter386AspextTer?)
c.1693del (p.Ter565AspextTer?)
c.1615del (p.Ter539AspextTer?)
c.1585del (p.Ter529AspextTer?)
c.1564del (p.Ter522AspextTer?)
c.1540del (p.Ter514AspextTer?)
c.1495del (p.Ter499AspextTer?)
c.1456del (p.Ter486AspextTer?)
c.1366del (p.Ter456AspextTer?)
c.1321del (p.Ter441AspextTer?)
c.1744del (p.Ter582AspextTer?)
c.1699del (p.Ter567AspextTer?)
c.1753del (p.Ter585AspextTer?)
c.1450del (p.Ter484AspextTer?)
c.1357del (p.Ter453AspextTer?)
c.1354del (p.Ter452AspextTer?)
c.1285del (p.Ter429AspextTer?)
c.1249del (p.Ter417AspextTer?)
c.1246del (p.Ter416AspextTer?)
c.1153del (p.Ter385AspextTer?)
c.1108del (p.Ter370AspextTer?)
2g.127048528A=CA1286710702BIN1c.1363T= (p.Ter455=)
c.1780T= (p.Ter594=)
c.1492T= (p.Ter498=)
c.1555T= (p.Ter519=)
c.1228T= (p.Ter410=)
c.1519T= (p.Ter507=)
c.1651T= (p.Ter551=)
c.1273T= (p.Ter425=)
c.1447T= (p.Ter483=)
c.1426T= (p.Ter476=)
c.1318T= (p.Ter440=)
n.4646T=
c.1825T= (p.Ter609=)
c.1732T= (p.Ter578=)
c.1687T= (p.Ter563=)
c.1660T= (p.Ter554=)
c.1411T= (p.Ter471=)
c.1156T= (p.Ter386=)
c.1693T= (p.Ter565=)
c.1615T= (p.Ter539=)
c.1585T= (p.Ter529=)
c.1564T= (p.Ter522=)
c.1540T= (p.Ter514=)
c.1495T= (p.Ter499=)
c.1456T= (p.Ter486=)
c.1366T= (p.Ter456=)
c.1321T= (p.Ter441=)
c.1744T= (p.Ter582=)
c.1699T= (p.Ter567=)
c.1753T= (p.Ter585=)
c.1450T= (p.Ter484=)
c.1357T= (p.Ter453=)
c.1354T= (p.Ter452=)
c.1285T= (p.Ter429=)
c.1249T= (p.Ter417=)
c.1246T= (p.Ter416=)
c.1153T= (p.Ter385=)
c.1108T= (p.Ter370=)
2g.127048528A>CCA348373256BIN1c.1363T>G (p.Ter455Gly)
c.1780T>G (p.Ter594Gly)
c.1492T>G (p.Ter498Gly)
c.1555T>G (p.Ter519Gly)
c.1228T>G (p.Ter410Gly)
c.1519T>G (p.Ter507Gly)
c.1651T>G (p.Ter551Gly)
c.1273T>G (p.Ter425Gly)
c.1447T>G (p.Ter483Gly)
c.1426T>G (p.Ter476Gly)
c.1318T>G (p.Ter440Gly)
n.4646T>G
c.1825T>G (p.Ter609Gly)
c.1732T>G (p.Ter578Gly)
c.1687T>G (p.Ter563Gly)
c.1660T>G (p.Ter554Gly)
c.1411T>G (p.Ter471Gly)
c.1156T>G (p.Ter386Gly)
c.1693T>G (p.Ter565Gly)
c.1615T>G (p.Ter539Gly)
c.1585T>G (p.Ter529Gly)
c.1564T>G (p.Ter522Gly)
c.1540T>G (p.Ter514Gly)
c.1495T>G (p.Ter499Gly)
c.1456T>G (p.Ter486Gly)
c.1366T>G (p.Ter456Gly)
c.1321T>G (p.Ter441Gly)
c.1744T>G (p.Ter582Gly)
c.1699T>G (p.Ter567Gly)
c.1753T>G (p.Ter585Gly)
c.1450T>G (p.Ter484Gly)
c.1357T>G (p.Ter453Gly)
c.1354T>G (p.Ter452Gly)
c.1285T>G (p.Ter429Gly)
c.1249T>G (p.Ter417Gly)
c.1246T>G (p.Ter416Gly)
c.1153T>G (p.Ter385Gly)
c.1108T>G (p.Ter370Gly)
2g.127048528A>GCA348373258BIN1c.1363T>C (p.Ter455Arg)
c.1780T>C (p.Ter594Arg)
c.1492T>C (p.Ter498Arg)
c.1555T>C (p.Ter519Arg)
c.1228T>C (p.Ter410Arg)
c.1519T>C (p.Ter507Arg)
c.1651T>C (p.Ter551Arg)
c.1273T>C (p.Ter425Arg)
c.1447T>C (p.Ter483Arg)
c.1426T>C (p.Ter476Arg)
c.1318T>C (p.Ter440Arg)
n.4646T>C
c.1825T>C (p.Ter609Arg)
c.1732T>C (p.Ter578Arg)
c.1687T>C (p.Ter563Arg)
c.1660T>C (p.Ter554Arg)
c.1411T>C (p.Ter471Arg)
c.1156T>C (p.Ter386Arg)
c.1693T>C (p.Ter565Arg)
c.1615T>C (p.Ter539Arg)
c.1585T>C (p.Ter529Arg)
c.1564T>C (p.Ter522Arg)
c.1540T>C (p.Ter514Arg)
c.1495T>C (p.Ter499Arg)
c.1456T>C (p.Ter486Arg)
c.1366T>C (p.Ter456Arg)
c.1321T>C (p.Ter441Arg)
c.1744T>C (p.Ter582Arg)
c.1699T>C (p.Ter567Arg)
c.1753T>C (p.Ter585Arg)
c.1450T>C (p.Ter484Arg)
c.1357T>C (p.Ter453Arg)
c.1354T>C (p.Ter452Arg)
c.1285T>C (p.Ter429Arg)
c.1249T>C (p.Ter417Arg)
c.1246T>C (p.Ter416Arg)
c.1153T>C (p.Ter385Arg)
c.1108T>C (p.Ter370Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.127048528A>TCA348373261BIN1c.1363T>A (p.Ter455Arg)
c.1780T>A (p.Ter594Arg)
c.1492T>A (p.Ter498Arg)
c.1555T>A (p.Ter519Arg)
c.1228T>A (p.Ter410Arg)
c.1519T>A (p.Ter507Arg)
c.1651T>A (p.Ter551Arg)
c.1273T>A (p.Ter425Arg)
c.1447T>A (p.Ter483Arg)
c.1426T>A (p.Ter476Arg)
c.1318T>A (p.Ter440Arg)
n.4646T>A
c.1825T>A (p.Ter609Arg)
c.1732T>A (p.Ter578Arg)
c.1687T>A (p.Ter563Arg)
c.1660T>A (p.Ter554Arg)
c.1411T>A (p.Ter471Arg)
c.1156T>A (p.Ter386Arg)
c.1693T>A (p.Ter565Arg)
c.1615T>A (p.Ter539Arg)
c.1585T>A (p.Ter529Arg)
c.1564T>A (p.Ter522Arg)
c.1540T>A (p.Ter514Arg)
c.1495T>A (p.Ter499Arg)
c.1456T>A (p.Ter486Arg)
c.1366T>A (p.Ter456Arg)
c.1321T>A (p.Ter441Arg)
c.1744T>A (p.Ter582Arg)
c.1699T>A (p.Ter567Arg)
c.1753T>A (p.Ter585Arg)
c.1450T>A (p.Ter484Arg)
c.1357T>A (p.Ter453Arg)
c.1354T>A (p.Ter452Arg)
c.1285T>A (p.Ter429Arg)
c.1249T>A (p.Ter417Arg)
c.1246T>A (p.Ter416Arg)
c.1153T>A (p.Ter385Arg)
c.1108T>A (p.Ter370Arg)
2g.127048529delCA915940932BIN1c.1362del (p.Ter455AspextTer?)
c.1779del (p.Ter594AspextTer?)
c.1491del (p.Ter498AspextTer?)
c.1554del (p.Ter519AspextTer?)
c.1227del (p.Ter410AspextTer?)
c.1518del (p.Ter507AspextTer?)
c.1650del (p.Ter551AspextTer?)
c.1272del (p.Ter425AspextTer?)
c.1446del (p.Ter483AspextTer?)
c.1425del (p.Ter476AspextTer?)
c.1317del (p.Ter440AspextTer?)
n.4645del
c.1824del (p.Ter609AspextTer?)
c.1731del (p.Ter578AspextTer?)
c.1686del (p.Ter563AspextTer?)
c.1659del (p.Ter554AspextTer?)
c.1410del (p.Ter471AspextTer?)
c.1155del (p.Ter386AspextTer?)
c.1692del (p.Ter565AspextTer?)
c.1614del (p.Ter539AspextTer?)
c.1584del (p.Ter529AspextTer?)
c.1563del (p.Ter522AspextTer?)
c.1539del (p.Ter514AspextTer?)
c.1494del (p.Ter499AspextTer?)
c.1455del (p.Ter486AspextTer?)
c.1365del (p.Ter456AspextTer?)
c.1320del (p.Ter441AspextTer?)
c.1743del (p.Ter582AspextTer?)
c.1698del (p.Ter567AspextTer?)
c.1752del (p.Ter585AspextTer?)
c.1449del (p.Ter484AspextTer?)
c.1356del (p.Ter453AspextTer?)
c.1353del (p.Ter452AspextTer?)
c.1284del (p.Ter429AspextTer?)
c.1248del (p.Ter417AspextTer?)
c.1245del (p.Ter416AspextTer?)
c.1152del (p.Ter385AspextTer?)
c.1107del (p.Ter370AspextTer?)
2g.127048529T>ACA428593615BIN1c.1362A>T (p.Pro454=)
c.1779A>T (p.Pro593=)
c.1491A>T (p.Pro497=)
c.1554A>T (p.Pro518=)
c.1227A>T (p.Pro409=)
c.1518A>T (p.Pro506=)
c.1650A>T (p.Pro550=)
c.1272A>T (p.Pro424=)
c.1446A>T (p.Pro482=)
c.1425A>T (p.Pro475=)
c.1317A>T (p.Pro439=)
n.4645A>T
c.1824A>T (p.Pro608=)
c.1731A>T (p.Pro577=)
c.1686A>T (p.Pro562=)
c.1659A>T (p.Pro553=)
c.1410A>T (p.Pro470=)
c.1155A>T (p.Pro385=)
c.1692A>T (p.Pro564=)
c.1614A>T (p.Pro538=)
c.1584A>T (p.Pro528=)
c.1563A>T (p.Pro521=)
c.1539A>T (p.Pro513=)
c.1494A>T (p.Pro498=)
c.1455A>T (p.Pro485=)
c.1365A>T (p.Pro455=)
c.1320A>T (p.Pro440=)
c.1743A>T (p.Pro581=)
c.1698A>T (p.Pro566=)
c.1752A>T (p.Pro584=)
c.1449A>T (p.Pro483=)
c.1356A>T (p.Pro452=)
c.1353A>T (p.Pro451=)
c.1284A>T (p.Pro428=)
c.1248A>T (p.Pro416=)
c.1245A>T (p.Pro415=)
c.1152A>T (p.Pro384=)
c.1107A>T (p.Pro369=)
2g.127048529T>CCA428593616BIN1c.1362A>G (p.Pro454=)
c.1779A>G (p.Pro593=)
c.1491A>G (p.Pro497=)
c.1554A>G (p.Pro518=)
c.1227A>G (p.Pro409=)
c.1518A>G (p.Pro506=)
c.1650A>G (p.Pro550=)
c.1272A>G (p.Pro424=)
c.1446A>G (p.Pro482=)
c.1425A>G (p.Pro475=)
c.1317A>G (p.Pro439=)
n.4645A>G
c.1824A>G (p.Pro608=)
c.1731A>G (p.Pro577=)
c.1686A>G (p.Pro562=)
c.1659A>G (p.Pro553=)
c.1410A>G (p.Pro470=)
c.1155A>G (p.Pro385=)
c.1692A>G (p.Pro564=)
c.1614A>G (p.Pro538=)
c.1584A>G (p.Pro528=)
c.1563A>G (p.Pro521=)
c.1539A>G (p.Pro513=)
c.1494A>G (p.Pro498=)
c.1455A>G (p.Pro485=)
c.1365A>G (p.Pro455=)
c.1320A>G (p.Pro440=)
c.1743A>G (p.Pro581=)
c.1698A>G (p.Pro566=)
c.1752A>G (p.Pro584=)
c.1449A>G (p.Pro483=)
c.1356A>G (p.Pro452=)
c.1353A>G (p.Pro451=)
c.1284A>G (p.Pro428=)
c.1248A>G (p.Pro416=)
c.1245A>G (p.Pro415=)
c.1152A>G (p.Pro384=)
c.1107A>G (p.Pro369=)
2g.127048529T>GCA428593617BIN1c.1362A>C (p.Pro454=)
c.1779A>C (p.Pro593=)
c.1491A>C (p.Pro497=)
c.1554A>C (p.Pro518=)
c.1227A>C (p.Pro409=)
c.1518A>C (p.Pro506=)
c.1650A>C (p.Pro550=)
c.1272A>C (p.Pro424=)
c.1446A>C (p.Pro482=)
c.1425A>C (p.Pro475=)
c.1317A>C (p.Pro439=)
n.4645A>C
c.1824A>C (p.Pro608=)
c.1731A>C (p.Pro577=)
c.1686A>C (p.Pro562=)
c.1659A>C (p.Pro553=)
c.1410A>C (p.Pro470=)
c.1155A>C (p.Pro385=)
c.1692A>C (p.Pro564=)
c.1614A>C (p.Pro538=)
c.1584A>C (p.Pro528=)
c.1563A>C (p.Pro521=)
c.1539A>C (p.Pro513=)
c.1494A>C (p.Pro498=)
c.1455A>C (p.Pro485=)
c.1365A>C (p.Pro455=)
c.1320A>C (p.Pro440=)
c.1743A>C (p.Pro581=)
c.1698A>C (p.Pro566=)
c.1752A>C (p.Pro584=)
c.1449A>C (p.Pro483=)
c.1356A>C (p.Pro452=)
c.1353A>C (p.Pro451=)
c.1284A>C (p.Pro428=)
c.1248A>C (p.Pro416=)
c.1245A>C (p.Pro415=)
c.1152A>C (p.Pro384=)
c.1107A>C (p.Pro369=)
2g.127048530G>ACA1856923BIN1c.1361C>T (p.Pro454Leu)
c.1778C>T (p.Pro593Leu)
c.1490C>T (p.Pro497Leu)
c.1553C>T (p.Pro518Leu)
c.1226C>T (p.Pro409Leu)
c.1517C>T (p.Pro506Leu)
c.1649C>T (p.Pro550Leu)
c.1271C>T (p.Pro424Leu)
c.1445C>T (p.Pro482Leu)
c.1424C>T (p.Pro475Leu)
c.1316C>T (p.Pro439Leu)
n.4644C>T
c.1823C>T (p.Pro608Leu)
c.1730C>T (p.Pro577Leu)
c.1685C>T (p.Pro562Leu)
c.1658C>T (p.Pro553Leu)
c.1409C>T (p.Pro470Leu)
c.1154C>T (p.Pro385Leu)
c.1691C>T (p.Pro564Leu)
c.1613C>T (p.Pro538Leu)
c.1583C>T (p.Pro528Leu)
c.1562C>T (p.Pro521Leu)
c.1538C>T (p.Pro513Leu)
c.1493C>T (p.Pro498Leu)
c.1454C>T (p.Pro485Leu)
c.1364C>T (p.Pro455Leu)
c.1319C>T (p.Pro440Leu)
c.1742C>T (p.Pro581Leu)
c.1697C>T (p.Pro566Leu)
c.1751C>T (p.Pro584Leu)
c.1448C>T (p.Pro483Leu)
c.1355C>T (p.Pro452Leu)
c.1352C>T (p.Pro451Leu)
c.1283C>T (p.Pro428Leu)
c.1247C>T (p.Pro416Leu)
c.1244C>T (p.Pro415Leu)
c.1151C>T (p.Pro384Leu)
c.1106C>T (p.Pro369Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048530G>CCA348373265BIN1c.1361C>G (p.Pro454Arg)
c.1778C>G (p.Pro593Arg)
c.1490C>G (p.Pro497Arg)
c.1553C>G (p.Pro518Arg)
c.1226C>G (p.Pro409Arg)
c.1517C>G (p.Pro506Arg)
c.1649C>G (p.Pro550Arg)
c.1271C>G (p.Pro424Arg)
c.1445C>G (p.Pro482Arg)
c.1424C>G (p.Pro475Arg)
c.1316C>G (p.Pro439Arg)
n.4644C>G
c.1823C>G (p.Pro608Arg)
c.1730C>G (p.Pro577Arg)
c.1685C>G (p.Pro562Arg)
c.1658C>G (p.Pro553Arg)
c.1409C>G (p.Pro470Arg)
c.1154C>G (p.Pro385Arg)
c.1691C>G (p.Pro564Arg)
c.1613C>G (p.Pro538Arg)
c.1583C>G (p.Pro528Arg)
c.1562C>G (p.Pro521Arg)
c.1538C>G (p.Pro513Arg)
c.1493C>G (p.Pro498Arg)
c.1454C>G (p.Pro485Arg)
c.1364C>G (p.Pro455Arg)
c.1319C>G (p.Pro440Arg)
c.1742C>G (p.Pro581Arg)
c.1697C>G (p.Pro566Arg)
c.1751C>G (p.Pro584Arg)
c.1448C>G (p.Pro483Arg)
c.1355C>G (p.Pro452Arg)
c.1352C>G (p.Pro451Arg)
c.1283C>G (p.Pro428Arg)
c.1247C>G (p.Pro416Arg)
c.1244C>G (p.Pro415Arg)
c.1151C>G (p.Pro384Arg)
c.1106C>G (p.Pro369Arg)
2g.127048530G=CA1286710703BIN1c.1361C= (p.Pro454=)
c.1778C= (p.Pro593=)
c.1490C= (p.Pro497=)
c.1553C= (p.Pro518=)
c.1226C= (p.Pro409=)
c.1517C= (p.Pro506=)
c.1649C= (p.Pro550=)
c.1271C= (p.Pro424=)
c.1445C= (p.Pro482=)
c.1424C= (p.Pro475=)
c.1316C= (p.Pro439=)
n.4644C=
c.1823C= (p.Pro608=)
c.1730C= (p.Pro577=)
c.1685C= (p.Pro562=)
c.1658C= (p.Pro553=)
c.1409C= (p.Pro470=)
c.1154C= (p.Pro385=)
c.1691C= (p.Pro564=)
c.1613C= (p.Pro538=)
c.1583C= (p.Pro528=)
c.1562C= (p.Pro521=)
c.1538C= (p.Pro513=)
c.1493C= (p.Pro498=)
c.1454C= (p.Pro485=)
c.1364C= (p.Pro455=)
c.1319C= (p.Pro440=)
c.1742C= (p.Pro581=)
c.1697C= (p.Pro566=)
c.1751C= (p.Pro584=)
c.1448C= (p.Pro483=)
c.1355C= (p.Pro452=)
c.1352C= (p.Pro451=)
c.1283C= (p.Pro428=)
c.1247C= (p.Pro416=)
c.1244C= (p.Pro415=)
c.1151C= (p.Pro384=)
c.1106C= (p.Pro369=)
2g.127048530G>TCA348373268BIN1c.1361C>A (p.Pro454Gln)
c.1778C>A (p.Pro593Gln)
c.1490C>A (p.Pro497Gln)
c.1553C>A (p.Pro518Gln)
c.1226C>A (p.Pro409Gln)
c.1517C>A (p.Pro506Gln)
c.1649C>A (p.Pro550Gln)
c.1271C>A (p.Pro424Gln)
c.1445C>A (p.Pro482Gln)
c.1424C>A (p.Pro475Gln)
c.1316C>A (p.Pro439Gln)
n.4644C>A
c.1823C>A (p.Pro608Gln)
c.1730C>A (p.Pro577Gln)
c.1685C>A (p.Pro562Gln)
c.1658C>A (p.Pro553Gln)
c.1409C>A (p.Pro470Gln)
c.1154C>A (p.Pro385Gln)
c.1691C>A (p.Pro564Gln)
c.1613C>A (p.Pro538Gln)
c.1583C>A (p.Pro528Gln)
c.1562C>A (p.Pro521Gln)
c.1538C>A (p.Pro513Gln)
c.1493C>A (p.Pro498Gln)
c.1454C>A (p.Pro485Gln)
c.1364C>A (p.Pro455Gln)
c.1319C>A (p.Pro440Gln)
c.1742C>A (p.Pro581Gln)
c.1697C>A (p.Pro566Gln)
c.1751C>A (p.Pro584Gln)
c.1448C>A (p.Pro483Gln)
c.1355C>A (p.Pro452Gln)
c.1352C>A (p.Pro451Gln)
c.1283C>A (p.Pro428Gln)
c.1247C>A (p.Pro416Gln)
c.1244C>A (p.Pro415Gln)
c.1151C>A (p.Pro384Gln)
c.1106C>A (p.Pro369Gln)
2g.127048532delCA915940930BIN1c.1361del (p.Pro454HisfsTer?)
c.1778del (p.Pro593HisfsTer?)
c.1490del (p.Pro497HisfsTer?)
c.1553del (p.Pro518HisfsTer?)
c.1226del (p.Pro409HisfsTer?)
c.1517del (p.Pro506HisfsTer?)
c.1649del (p.Pro550HisfsTer?)
c.1271del (p.Pro424HisfsTer?)
c.1445del (p.Pro482HisfsTer?)
c.1424del (p.Pro475HisfsTer?)
c.1316del (p.Pro439HisfsTer?)
n.4644del
c.1823del (p.Pro608HisfsTer?)
c.1730del (p.Pro577HisfsTer?)
c.1685del (p.Pro562HisfsTer?)
c.1658del (p.Pro553HisfsTer?)
c.1409del (p.Pro470HisfsTer?)
c.1154del (p.Pro385HisfsTer?)
c.1691del (p.Pro564HisfsTer?)
c.1613del (p.Pro538HisfsTer?)
c.1583del (p.Pro528HisfsTer?)
c.1562del (p.Pro521HisfsTer?)
c.1538del (p.Pro513HisfsTer?)
c.1493del (p.Pro498HisfsTer?)
c.1454del (p.Pro485HisfsTer?)
c.1364del (p.Pro455HisfsTer?)
c.1319del (p.Pro440HisfsTer?)
c.1742del (p.Pro581HisfsTer?)
c.1697del (p.Pro566HisfsTer?)
c.1751del (p.Pro584HisfsTer?)
c.1448del (p.Pro483HisfsTer?)
c.1355del (p.Pro452HisfsTer?)
c.1352del (p.Pro451HisfsTer?)
c.1283del (p.Pro428HisfsTer?)
c.1247del (p.Pro416HisfsTer?)
c.1244del (p.Pro415HisfsTer?)
c.1151del (p.Pro384HisfsTer?)
c.1106del (p.Pro369HisfsTer?)
2g.127048531G>ACA348373277BIN1c.1360C>T (p.Pro454Ser)
c.1777C>T (p.Pro593Ser)
c.1489C>T (p.Pro497Ser)
c.1552C>T (p.Pro518Ser)
c.1225C>T (p.Pro409Ser)
c.1516C>T (p.Pro506Ser)
c.1648C>T (p.Pro550Ser)
c.1270C>T (p.Pro424Ser)
c.1444C>T (p.Pro482Ser)
c.1423C>T (p.Pro475Ser)
c.1315C>T (p.Pro439Ser)
n.4643C>T
c.1822C>T (p.Pro608Ser)
c.1729C>T (p.Pro577Ser)
c.1684C>T (p.Pro562Ser)
c.1657C>T (p.Pro553Ser)
c.1408C>T (p.Pro470Ser)
c.1153C>T (p.Pro385Ser)
c.1690C>T (p.Pro564Ser)
c.1612C>T (p.Pro538Ser)
c.1582C>T (p.Pro528Ser)
c.1561C>T (p.Pro521Ser)
c.1537C>T (p.Pro513Ser)
c.1492C>T (p.Pro498Ser)
c.1453C>T (p.Pro485Ser)
c.1363C>T (p.Pro455Ser)
c.1318C>T (p.Pro440Ser)
c.1741C>T (p.Pro581Ser)
c.1696C>T (p.Pro566Ser)
c.1750C>T (p.Pro584Ser)
c.1447C>T (p.Pro483Ser)
c.1354C>T (p.Pro452Ser)
c.1351C>T (p.Pro451Ser)
c.1282C>T (p.Pro428Ser)
c.1246C>T (p.Pro416Ser)
c.1243C>T (p.Pro415Ser)
c.1150C>T (p.Pro384Ser)
c.1105C>T (p.Pro369Ser)
2g.127048531G>CCA348373270BIN1c.1360C>G (p.Pro454Ala)
c.1777C>G (p.Pro593Ala)
c.1489C>G (p.Pro497Ala)
c.1552C>G (p.Pro518Ala)
c.1225C>G (p.Pro409Ala)
c.1516C>G (p.Pro506Ala)
c.1648C>G (p.Pro550Ala)
c.1270C>G (p.Pro424Ala)
c.1444C>G (p.Pro482Ala)
c.1423C>G (p.Pro475Ala)
c.1315C>G (p.Pro439Ala)
n.4643C>G
c.1822C>G (p.Pro608Ala)
c.1729C>G (p.Pro577Ala)
c.1684C>G (p.Pro562Ala)
c.1657C>G (p.Pro553Ala)
c.1408C>G (p.Pro470Ala)
c.1153C>G (p.Pro385Ala)
c.1690C>G (p.Pro564Ala)
c.1612C>G (p.Pro538Ala)
c.1582C>G (p.Pro528Ala)
c.1561C>G (p.Pro521Ala)
c.1537C>G (p.Pro513Ala)
c.1492C>G (p.Pro498Ala)
c.1453C>G (p.Pro485Ala)
c.1363C>G (p.Pro455Ala)
c.1318C>G (p.Pro440Ala)
c.1741C>G (p.Pro581Ala)
c.1696C>G (p.Pro566Ala)
c.1750C>G (p.Pro584Ala)
c.1447C>G (p.Pro483Ala)
c.1354C>G (p.Pro452Ala)
c.1351C>G (p.Pro451Ala)
c.1282C>G (p.Pro428Ala)
c.1246C>G (p.Pro416Ala)
c.1243C>G (p.Pro415Ala)
c.1150C>G (p.Pro384Ala)
c.1105C>G (p.Pro369Ala)
 gnomAD v4
2g.127048531G>TCA348373271BIN1c.1360C>A (p.Pro454Thr)
c.1777C>A (p.Pro593Thr)
c.1489C>A (p.Pro497Thr)
c.1552C>A (p.Pro518Thr)
c.1225C>A (p.Pro409Thr)
c.1516C>A (p.Pro506Thr)
c.1648C>A (p.Pro550Thr)
c.1270C>A (p.Pro424Thr)
c.1444C>A (p.Pro482Thr)
c.1423C>A (p.Pro475Thr)
c.1315C>A (p.Pro439Thr)
n.4643C>A
c.1822C>A (p.Pro608Thr)
c.1729C>A (p.Pro577Thr)
c.1684C>A (p.Pro562Thr)
c.1657C>A (p.Pro553Thr)
c.1408C>A (p.Pro470Thr)
c.1153C>A (p.Pro385Thr)
c.1690C>A (p.Pro564Thr)
c.1612C>A (p.Pro538Thr)
c.1582C>A (p.Pro528Thr)
c.1561C>A (p.Pro521Thr)
c.1537C>A (p.Pro513Thr)
c.1492C>A (p.Pro498Thr)
c.1453C>A (p.Pro485Thr)
c.1363C>A (p.Pro455Thr)
c.1318C>A (p.Pro440Thr)
c.1741C>A (p.Pro581Thr)
c.1696C>A (p.Pro566Thr)
c.1750C>A (p.Pro584Thr)
c.1447C>A (p.Pro483Thr)
c.1354C>A (p.Pro452Thr)
c.1351C>A (p.Pro451Thr)
c.1282C>A (p.Pro428Thr)
c.1246C>A (p.Pro416Thr)
c.1243C>A (p.Pro415Thr)
c.1150C>A (p.Pro384Thr)
c.1105C>A (p.Pro369Thr)
2g.127048532G>ACA428593618BIN1c.1359C>T (p.Val453=)
c.1776C>T (p.Val592=)
c.1488C>T (p.Val496=)
c.1551C>T (p.Val517=)
c.1224C>T (p.Val408=)
c.1515C>T (p.Val505=)
c.1647C>T (p.Val549=)
c.1269C>T (p.Val423=)
c.1443C>T (p.Val481=)
c.1422C>T (p.Val474=)
c.1314C>T (p.Val438=)
n.4642C>T
c.1821C>T (p.Val607=)
c.1728C>T (p.Val576=)
c.1683C>T (p.Val561=)
c.1656C>T (p.Val552=)
c.1407C>T (p.Val469=)
c.1152C>T (p.Val384=)
c.1689C>T (p.Val563=)
c.1611C>T (p.Val537=)
c.1581C>T (p.Val527=)
c.1560C>T (p.Val520=)
c.1536C>T (p.Val512=)
c.1491C>T (p.Val497=)
c.1452C>T (p.Val484=)
c.1362C>T (p.Val454=)
c.1317C>T (p.Val439=)
c.1740C>T (p.Val580=)
c.1695C>T (p.Val565=)
c.1749C>T (p.Val583=)
c.1446C>T (p.Val482=)
c.1353C>T (p.Val451=)
c.1350C>T (p.Val450=)
c.1281C>T (p.Val427=)
c.1245C>T (p.Val415=)
c.1242C>T (p.Val414=)
c.1149C>T (p.Val383=)
c.1104C>T (p.Val368=)
 gnomAD v4
2g.127048532G>CCA428593619BIN1c.1359C>G (p.Val453=)
c.1776C>G (p.Val592=)
c.1488C>G (p.Val496=)
c.1551C>G (p.Val517=)
c.1224C>G (p.Val408=)
c.1515C>G (p.Val505=)
c.1647C>G (p.Val549=)
c.1269C>G (p.Val423=)
c.1443C>G (p.Val481=)
c.1422C>G (p.Val474=)
c.1314C>G (p.Val438=)
n.4642C>G
c.1821C>G (p.Val607=)
c.1728C>G (p.Val576=)
c.1683C>G (p.Val561=)
c.1656C>G (p.Val552=)
c.1407C>G (p.Val469=)
c.1152C>G (p.Val384=)
c.1689C>G (p.Val563=)
c.1611C>G (p.Val537=)
c.1581C>G (p.Val527=)
c.1560C>G (p.Val520=)
c.1536C>G (p.Val512=)
c.1491C>G (p.Val497=)
c.1452C>G (p.Val484=)
c.1362C>G (p.Val454=)
c.1317C>G (p.Val439=)
c.1740C>G (p.Val580=)
c.1695C>G (p.Val565=)
c.1749C>G (p.Val583=)
c.1446C>G (p.Val482=)
c.1353C>G (p.Val451=)
c.1350C>G (p.Val450=)
c.1281C>G (p.Val427=)
c.1245C>G (p.Val415=)
c.1242C>G (p.Val414=)
c.1149C>G (p.Val383=)
c.1104C>G (p.Val368=)
 gnomAD v4
2g.127048532G>TCA428593620BIN1c.1359C>A (p.Val453=)
c.1776C>A (p.Val592=)
c.1488C>A (p.Val496=)
c.1551C>A (p.Val517=)
c.1224C>A (p.Val408=)
c.1515C>A (p.Val505=)
c.1647C>A (p.Val549=)
c.1269C>A (p.Val423=)
c.1443C>A (p.Val481=)
c.1422C>A (p.Val474=)
c.1314C>A (p.Val438=)
n.4642C>A
c.1821C>A (p.Val607=)
c.1728C>A (p.Val576=)
c.1683C>A (p.Val561=)
c.1656C>A (p.Val552=)
c.1407C>A (p.Val469=)
c.1152C>A (p.Val384=)
c.1689C>A (p.Val563=)
c.1611C>A (p.Val537=)
c.1581C>A (p.Val527=)
c.1560C>A (p.Val520=)
c.1536C>A (p.Val512=)
c.1491C>A (p.Val497=)
c.1452C>A (p.Val484=)
c.1362C>A (p.Val454=)
c.1317C>A (p.Val439=)
c.1740C>A (p.Val580=)
c.1695C>A (p.Val565=)
c.1749C>A (p.Val583=)
c.1446C>A (p.Val482=)
c.1353C>A (p.Val451=)
c.1350C>A (p.Val450=)
c.1281C>A (p.Val427=)
c.1245C>A (p.Val415=)
c.1242C>A (p.Val414=)
c.1149C>A (p.Val383=)
c.1104C>A (p.Val368=)
2g.127048533A>CCA348373280BIN1c.1358T>G (p.Val453Gly)
c.1775T>G (p.Val592Gly)
c.1487T>G (p.Val496Gly)
c.1550T>G (p.Val517Gly)
c.1223T>G (p.Val408Gly)
c.1514T>G (p.Val505Gly)
c.1646T>G (p.Val549Gly)
c.1268T>G (p.Val423Gly)
c.1442T>G (p.Val481Gly)
c.1421T>G (p.Val474Gly)
c.1313T>G (p.Val438Gly)
n.4641T>G
c.1820T>G (p.Val607Gly)
c.1727T>G (p.Val576Gly)
c.1682T>G (p.Val561Gly)
c.1655T>G (p.Val552Gly)
c.1406T>G (p.Val469Gly)
c.1151T>G (p.Val384Gly)
c.1688T>G (p.Val563Gly)
c.1610T>G (p.Val537Gly)
c.1580T>G (p.Val527Gly)
c.1559T>G (p.Val520Gly)
c.1535T>G (p.Val512Gly)
c.1490T>G (p.Val497Gly)
c.1451T>G (p.Val484Gly)
c.1361T>G (p.Val454Gly)
c.1316T>G (p.Val439Gly)
c.1739T>G (p.Val580Gly)
c.1694T>G (p.Val565Gly)
c.1748T>G (p.Val583Gly)
c.1445T>G (p.Val482Gly)
c.1352T>G (p.Val451Gly)
c.1349T>G (p.Val450Gly)
c.1280T>G (p.Val427Gly)
c.1244T>G (p.Val415Gly)
c.1241T>G (p.Val414Gly)
c.1148T>G (p.Val383Gly)
c.1103T>G (p.Val368Gly)
2g.127048533A>GCA348373289BIN1c.1358T>C (p.Val453Ala)
c.1775T>C (p.Val592Ala)
c.1487T>C (p.Val496Ala)
c.1550T>C (p.Val517Ala)
c.1223T>C (p.Val408Ala)
c.1514T>C (p.Val505Ala)
c.1646T>C (p.Val549Ala)
c.1268T>C (p.Val423Ala)
c.1442T>C (p.Val481Ala)
c.1421T>C (p.Val474Ala)
c.1313T>C (p.Val438Ala)
n.4641T>C
c.1820T>C (p.Val607Ala)
c.1727T>C (p.Val576Ala)
c.1682T>C (p.Val561Ala)
c.1655T>C (p.Val552Ala)
c.1406T>C (p.Val469Ala)
c.1151T>C (p.Val384Ala)
c.1688T>C (p.Val563Ala)
c.1610T>C (p.Val537Ala)
c.1580T>C (p.Val527Ala)
c.1559T>C (p.Val520Ala)
c.1535T>C (p.Val512Ala)
c.1490T>C (p.Val497Ala)
c.1451T>C (p.Val484Ala)
c.1361T>C (p.Val454Ala)
c.1316T>C (p.Val439Ala)
c.1739T>C (p.Val580Ala)
c.1694T>C (p.Val565Ala)
c.1748T>C (p.Val583Ala)
c.1445T>C (p.Val482Ala)
c.1352T>C (p.Val451Ala)
c.1349T>C (p.Val450Ala)
c.1280T>C (p.Val427Ala)
c.1244T>C (p.Val415Ala)
c.1241T>C (p.Val414Ala)
c.1148T>C (p.Val383Ala)
c.1103T>C (p.Val368Ala)
2g.127048533A>TCA348373290BIN1c.1358T>A (p.Val453Asp)
c.1775T>A (p.Val592Asp)
c.1487T>A (p.Val496Asp)
c.1550T>A (p.Val517Asp)
c.1223T>A (p.Val408Asp)
c.1514T>A (p.Val505Asp)
c.1646T>A (p.Val549Asp)
c.1268T>A (p.Val423Asp)
c.1442T>A (p.Val481Asp)
c.1421T>A (p.Val474Asp)
c.1313T>A (p.Val438Asp)
n.4641T>A
c.1820T>A (p.Val607Asp)
c.1727T>A (p.Val576Asp)
c.1682T>A (p.Val561Asp)
c.1655T>A (p.Val552Asp)
c.1406T>A (p.Val469Asp)
c.1151T>A (p.Val384Asp)
c.1688T>A (p.Val563Asp)
c.1610T>A (p.Val537Asp)
c.1580T>A (p.Val527Asp)
c.1559T>A (p.Val520Asp)
c.1535T>A (p.Val512Asp)
c.1490T>A (p.Val497Asp)
c.1451T>A (p.Val484Asp)
c.1361T>A (p.Val454Asp)
c.1316T>A (p.Val439Asp)
c.1739T>A (p.Val580Asp)
c.1694T>A (p.Val565Asp)
c.1748T>A (p.Val583Asp)
c.1445T>A (p.Val482Asp)
c.1352T>A (p.Val451Asp)
c.1349T>A (p.Val450Asp)
c.1280T>A (p.Val427Asp)
c.1244T>A (p.Val415Asp)
c.1241T>A (p.Val414Asp)
c.1148T>A (p.Val383Asp)
c.1103T>A (p.Val368Asp)
2g.127048534C>ACA1856924BIN1c.1357G>T (p.Val453Phe)
c.1774G>T (p.Val592Phe)
c.1486G>T (p.Val496Phe)
c.1549G>T (p.Val517Phe)
c.1222G>T (p.Val408Phe)
c.1513G>T (p.Val505Phe)
c.1645G>T (p.Val549Phe)
c.1267G>T (p.Val423Phe)
c.1441G>T (p.Val481Phe)
c.1420G>T (p.Val474Phe)
c.1312G>T (p.Val438Phe)
n.4640G>T
c.1819G>T (p.Val607Phe)
c.1726G>T (p.Val576Phe)
c.1681G>T (p.Val561Phe)
c.1654G>T (p.Val552Phe)
c.1405G>T (p.Val469Phe)
c.1150G>T (p.Val384Phe)
c.1687G>T (p.Val563Phe)
c.1609G>T (p.Val537Phe)
c.1579G>T (p.Val527Phe)
c.1558G>T (p.Val520Phe)
c.1534G>T (p.Val512Phe)
c.1489G>T (p.Val497Phe)
c.1450G>T (p.Val484Phe)
c.1360G>T (p.Val454Phe)
c.1315G>T (p.Val439Phe)
c.1738G>T (p.Val580Phe)
c.1693G>T (p.Val565Phe)
c.1747G>T (p.Val583Phe)
c.1444G>T (p.Val482Phe)
c.1351G>T (p.Val451Phe)
c.1348G>T (p.Val450Phe)
c.1279G>T (p.Val427Phe)
c.1243G>T (p.Val415Phe)
c.1240G>T (p.Val414Phe)
c.1147G>T (p.Val383Phe)
c.1102G>T (p.Val368Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048534C=CA1286710704BIN1c.1357G= (p.Val453=)
c.1774G= (p.Val592=)
c.1486G= (p.Val496=)
c.1549G= (p.Val517=)
c.1222G= (p.Val408=)
c.1513G= (p.Val505=)
c.1645G= (p.Val549=)
c.1267G= (p.Val423=)
c.1441G= (p.Val481=)
c.1420G= (p.Val474=)
c.1312G= (p.Val438=)
n.4640G=
c.1819G= (p.Val607=)
c.1726G= (p.Val576=)
c.1681G= (p.Val561=)
c.1654G= (p.Val552=)
c.1405G= (p.Val469=)
c.1150G= (p.Val384=)
c.1687G= (p.Val563=)
c.1609G= (p.Val537=)
c.1579G= (p.Val527=)
c.1558G= (p.Val520=)
c.1534G= (p.Val512=)
c.1489G= (p.Val497=)
c.1450G= (p.Val484=)
c.1360G= (p.Val454=)
c.1315G= (p.Val439=)
c.1738G= (p.Val580=)
c.1693G= (p.Val565=)
c.1747G= (p.Val583=)
c.1444G= (p.Val482=)
c.1351G= (p.Val451=)
c.1348G= (p.Val450=)
c.1279G= (p.Val427=)
c.1243G= (p.Val415=)
c.1240G= (p.Val414=)
c.1147G= (p.Val383=)
c.1102G= (p.Val368=)
2g.127048534C>GCA348373294BIN1c.1357G>C (p.Val453Leu)
c.1774G>C (p.Val592Leu)
c.1486G>C (p.Val496Leu)
c.1549G>C (p.Val517Leu)
c.1222G>C (p.Val408Leu)
c.1513G>C (p.Val505Leu)
c.1645G>C (p.Val549Leu)
c.1267G>C (p.Val423Leu)
c.1441G>C (p.Val481Leu)
c.1420G>C (p.Val474Leu)
c.1312G>C (p.Val438Leu)
n.4640G>C
c.1819G>C (p.Val607Leu)
c.1726G>C (p.Val576Leu)
c.1681G>C (p.Val561Leu)
c.1654G>C (p.Val552Leu)
c.1405G>C (p.Val469Leu)
c.1150G>C (p.Val384Leu)
c.1687G>C (p.Val563Leu)
c.1609G>C (p.Val537Leu)
c.1579G>C (p.Val527Leu)
c.1558G>C (p.Val520Leu)
c.1534G>C (p.Val512Leu)
c.1489G>C (p.Val497Leu)
c.1450G>C (p.Val484Leu)
c.1360G>C (p.Val454Leu)
c.1315G>C (p.Val439Leu)
c.1738G>C (p.Val580Leu)
c.1693G>C (p.Val565Leu)
c.1747G>C (p.Val583Leu)
c.1444G>C (p.Val482Leu)
c.1351G>C (p.Val451Leu)
c.1348G>C (p.Val450Leu)
c.1279G>C (p.Val427Leu)
c.1243G>C (p.Val415Leu)
c.1240G>C (p.Val414Leu)
c.1147G>C (p.Val383Leu)
c.1102G>C (p.Val368Leu)
2g.127048534C>TCA55334929BIN1c.1357G>A (p.Val453Ile)
c.1774G>A (p.Val592Ile)
c.1486G>A (p.Val496Ile)
c.1549G>A (p.Val517Ile)
c.1222G>A (p.Val408Ile)
c.1513G>A (p.Val505Ile)
c.1645G>A (p.Val549Ile)
c.1267G>A (p.Val423Ile)
c.1441G>A (p.Val481Ile)
c.1420G>A (p.Val474Ile)
c.1312G>A (p.Val438Ile)
n.4640G>A
c.1819G>A (p.Val607Ile)
c.1726G>A (p.Val576Ile)
c.1681G>A (p.Val561Ile)
c.1654G>A (p.Val552Ile)
c.1405G>A (p.Val469Ile)
c.1150G>A (p.Val384Ile)
c.1687G>A (p.Val563Ile)
c.1609G>A (p.Val537Ile)
c.1579G>A (p.Val527Ile)
c.1558G>A (p.Val520Ile)
c.1534G>A (p.Val512Ile)
c.1489G>A (p.Val497Ile)
c.1450G>A (p.Val484Ile)
c.1360G>A (p.Val454Ile)
c.1315G>A (p.Val439Ile)
c.1738G>A (p.Val580Ile)
c.1693G>A (p.Val565Ile)
c.1747G>A (p.Val583Ile)
c.1444G>A (p.Val482Ile)
c.1351G>A (p.Val451Ile)
c.1348G>A (p.Val450Ile)
c.1279G>A (p.Val427Ile)
c.1243G>A (p.Val415Ile)
c.1240G>A (p.Val414Ile)
c.1147G>A (p.Val383Ile)
c.1102G>A (p.Val368Ile)
 dbSNP
2g.127048535C>ACA348373299BIN1c.1356G>T (p.Arg452Ser)
c.1773G>T (p.Arg591Ser)
c.1485G>T (p.Arg495Ser)
c.1548G>T (p.Arg516Ser)
c.1221G>T (p.Arg407Ser)
c.1512G>T (p.Arg504Ser)
c.1644G>T (p.Arg548Ser)
c.1266G>T (p.Arg422Ser)
c.1440G>T (p.Arg480Ser)
c.1419G>T (p.Arg473Ser)
c.1311G>T (p.Arg437Ser)
n.4639G>T
c.1818G>T (p.Arg606Ser)
c.1725G>T (p.Arg575Ser)
c.1680G>T (p.Arg560Ser)
c.1653G>T (p.Arg551Ser)
c.1404G>T (p.Arg468Ser)
c.1149G>T (p.Arg383Ser)
c.1686G>T (p.Arg562Ser)
c.1608G>T (p.Arg536Ser)
c.1578G>T (p.Arg526Ser)
c.1557G>T (p.Arg519Ser)
c.1533G>T (p.Arg511Ser)
c.1488G>T (p.Arg496Ser)
c.1449G>T (p.Arg483Ser)
c.1359G>T (p.Arg453Ser)
c.1314G>T (p.Arg438Ser)
c.1737G>T (p.Arg579Ser)
c.1692G>T (p.Arg564Ser)
c.1746G>T (p.Arg582Ser)
c.1443G>T (p.Arg481Ser)
c.1350G>T (p.Arg450Ser)
c.1347G>T (p.Arg449Ser)
c.1278G>T (p.Arg426Ser)
c.1242G>T (p.Arg414Ser)
c.1239G>T (p.Arg413Ser)
c.1146G>T (p.Arg382Ser)
c.1101G>T (p.Arg367Ser)
2g.127048535C=CA1286710705BIN1c.1356G= (p.Arg452=)
c.1773G= (p.Arg591=)
c.1485G= (p.Arg495=)
c.1548G= (p.Arg516=)
c.1221G= (p.Arg407=)
c.1512G= (p.Arg504=)
c.1644G= (p.Arg548=)
c.1266G= (p.Arg422=)
c.1440G= (p.Arg480=)
c.1419G= (p.Arg473=)
c.1311G= (p.Arg437=)
n.4639G=
c.1818G= (p.Arg606=)
c.1725G= (p.Arg575=)
c.1680G= (p.Arg560=)
c.1653G= (p.Arg551=)
c.1404G= (p.Arg468=)
c.1149G= (p.Arg383=)
c.1686G= (p.Arg562=)
c.1608G= (p.Arg536=)
c.1578G= (p.Arg526=)
c.1557G= (p.Arg519=)
c.1533G= (p.Arg511=)
c.1488G= (p.Arg496=)
c.1449G= (p.Arg483=)
c.1359G= (p.Arg453=)
c.1314G= (p.Arg438=)
c.1737G= (p.Arg579=)
c.1692G= (p.Arg564=)
c.1746G= (p.Arg582=)
c.1443G= (p.Arg481=)
c.1350G= (p.Arg450=)
c.1347G= (p.Arg449=)
c.1278G= (p.Arg426=)
c.1242G= (p.Arg414=)
c.1239G= (p.Arg413=)
c.1146G= (p.Arg382=)
c.1101G= (p.Arg367=)
2g.127048535C>GCA348373302BIN1c.1356G>C (p.Arg452Ser)
c.1773G>C (p.Arg591Ser)
c.1485G>C (p.Arg495Ser)
c.1548G>C (p.Arg516Ser)
c.1221G>C (p.Arg407Ser)
c.1512G>C (p.Arg504Ser)
c.1644G>C (p.Arg548Ser)
c.1266G>C (p.Arg422Ser)
c.1440G>C (p.Arg480Ser)
c.1419G>C (p.Arg473Ser)
c.1311G>C (p.Arg437Ser)
n.4639G>C
c.1818G>C (p.Arg606Ser)
c.1725G>C (p.Arg575Ser)
c.1680G>C (p.Arg560Ser)
c.1653G>C (p.Arg551Ser)
c.1404G>C (p.Arg468Ser)
c.1149G>C (p.Arg383Ser)
c.1686G>C (p.Arg562Ser)
c.1608G>C (p.Arg536Ser)
c.1578G>C (p.Arg526Ser)
c.1557G>C (p.Arg519Ser)
c.1533G>C (p.Arg511Ser)
c.1488G>C (p.Arg496Ser)
c.1449G>C (p.Arg483Ser)
c.1359G>C (p.Arg453Ser)
c.1314G>C (p.Arg438Ser)
c.1737G>C (p.Arg579Ser)
c.1692G>C (p.Arg564Ser)
c.1746G>C (p.Arg582Ser)
c.1443G>C (p.Arg481Ser)
c.1350G>C (p.Arg450Ser)
c.1347G>C (p.Arg449Ser)
c.1278G>C (p.Arg426Ser)
c.1242G>C (p.Arg414Ser)
c.1239G>C (p.Arg413Ser)
c.1146G>C (p.Arg382Ser)
c.1101G>C (p.Arg367Ser)
2g.127048535C>TCA1856925BIN1c.1356G>A (p.Arg452=)
c.1773G>A (p.Arg591=)
c.1485G>A (p.Arg495=)
c.1548G>A (p.Arg516=)
c.1221G>A (p.Arg407=)
c.1512G>A (p.Arg504=)
c.1644G>A (p.Arg548=)
c.1266G>A (p.Arg422=)
c.1440G>A (p.Arg480=)
c.1419G>A (p.Arg473=)
c.1311G>A (p.Arg437=)
n.4639G>A
c.1818G>A (p.Arg606=)
c.1725G>A (p.Arg575=)
c.1680G>A (p.Arg560=)
c.1653G>A (p.Arg551=)
c.1404G>A (p.Arg468=)
c.1149G>A (p.Arg383=)
c.1686G>A (p.Arg562=)
c.1608G>A (p.Arg536=)
c.1578G>A (p.Arg526=)
c.1557G>A (p.Arg519=)
c.1533G>A (p.Arg511=)
c.1488G>A (p.Arg496=)
c.1449G>A (p.Arg483=)
c.1359G>A (p.Arg453=)
c.1314G>A (p.Arg438=)
c.1737G>A (p.Arg579=)
c.1692G>A (p.Arg564=)
c.1746G>A (p.Arg582=)
c.1443G>A (p.Arg481=)
c.1350G>A (p.Arg450=)
c.1347G>A (p.Arg449=)
c.1278G>A (p.Arg426=)
c.1242G>A (p.Arg414=)
c.1239G>A (p.Arg413=)
c.1146G>A (p.Arg382=)
c.1101G>A (p.Arg367=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048536C>ACA348373312BIN1c.1355G>T (p.Arg452Met)
c.1772G>T (p.Arg591Met)
c.1484G>T (p.Arg495Met)
c.1547G>T (p.Arg516Met)
c.1220G>T (p.Arg407Met)
c.1511G>T (p.Arg504Met)
c.1643G>T (p.Arg548Met)
c.1265G>T (p.Arg422Met)
c.1439G>T (p.Arg480Met)
c.1418G>T (p.Arg473Met)
c.1310G>T (p.Arg437Met)
n.4638G>T
c.1817G>T (p.Arg606Met)
c.1724G>T (p.Arg575Met)
c.1679G>T (p.Arg560Met)
c.1652G>T (p.Arg551Met)
c.1403G>T (p.Arg468Met)
c.1148G>T (p.Arg383Met)
c.1685G>T (p.Arg562Met)
c.1607G>T (p.Arg536Met)
c.1577G>T (p.Arg526Met)
c.1556G>T (p.Arg519Met)
c.1532G>T (p.Arg511Met)
c.1487G>T (p.Arg496Met)
c.1448G>T (p.Arg483Met)
c.1358G>T (p.Arg453Met)
c.1313G>T (p.Arg438Met)
c.1736G>T (p.Arg579Met)
c.1691G>T (p.Arg564Met)
c.1745G>T (p.Arg582Met)
c.1442G>T (p.Arg481Met)
c.1349G>T (p.Arg450Met)
c.1346G>T (p.Arg449Met)
c.1277G>T (p.Arg426Met)
c.1241G>T (p.Arg414Met)
c.1238G>T (p.Arg413Met)
c.1145G>T (p.Arg382Met)
c.1100G>T (p.Arg367Met)
2g.127048536C=CA1286710706BIN1c.1355G= (p.Arg452=)
c.1772G= (p.Arg591=)
c.1484G= (p.Arg495=)
c.1547G= (p.Arg516=)
c.1220G= (p.Arg407=)
c.1511G= (p.Arg504=)
c.1643G= (p.Arg548=)
c.1265G= (p.Arg422=)
c.1439G= (p.Arg480=)
c.1418G= (p.Arg473=)
c.1310G= (p.Arg437=)
n.4638G=
c.1817G= (p.Arg606=)
c.1724G= (p.Arg575=)
c.1679G= (p.Arg560=)
c.1652G= (p.Arg551=)
c.1403G= (p.Arg468=)
c.1148G= (p.Arg383=)
c.1685G= (p.Arg562=)
c.1607G= (p.Arg536=)
c.1577G= (p.Arg526=)
c.1556G= (p.Arg519=)
c.1532G= (p.Arg511=)
c.1487G= (p.Arg496=)
c.1448G= (p.Arg483=)
c.1358G= (p.Arg453=)
c.1313G= (p.Arg438=)
c.1736G= (p.Arg579=)
c.1691G= (p.Arg564=)
c.1745G= (p.Arg582=)
c.1442G= (p.Arg481=)
c.1349G= (p.Arg450=)
c.1346G= (p.Arg449=)
c.1277G= (p.Arg426=)
c.1241G= (p.Arg414=)
c.1238G= (p.Arg413=)
c.1145G= (p.Arg382=)
c.1100G= (p.Arg367=)
2g.127048536C>GCA348373313BIN1c.1355G>C (p.Arg452Thr)
c.1772G>C (p.Arg591Thr)
c.1484G>C (p.Arg495Thr)
c.1547G>C (p.Arg516Thr)
c.1220G>C (p.Arg407Thr)
c.1511G>C (p.Arg504Thr)
c.1643G>C (p.Arg548Thr)
c.1265G>C (p.Arg422Thr)
c.1439G>C (p.Arg480Thr)
c.1418G>C (p.Arg473Thr)
c.1310G>C (p.Arg437Thr)
n.4638G>C
c.1817G>C (p.Arg606Thr)
c.1724G>C (p.Arg575Thr)
c.1679G>C (p.Arg560Thr)
c.1652G>C (p.Arg551Thr)
c.1403G>C (p.Arg468Thr)
c.1148G>C (p.Arg383Thr)
c.1685G>C (p.Arg562Thr)
c.1607G>C (p.Arg536Thr)
c.1577G>C (p.Arg526Thr)
c.1556G>C (p.Arg519Thr)
c.1532G>C (p.Arg511Thr)
c.1487G>C (p.Arg496Thr)
c.1448G>C (p.Arg483Thr)
c.1358G>C (p.Arg453Thr)
c.1313G>C (p.Arg438Thr)
c.1736G>C (p.Arg579Thr)
c.1691G>C (p.Arg564Thr)
c.1745G>C (p.Arg582Thr)
c.1442G>C (p.Arg481Thr)
c.1349G>C (p.Arg450Thr)
c.1346G>C (p.Arg449Thr)
c.1277G>C (p.Arg426Thr)
c.1241G>C (p.Arg414Thr)
c.1238G>C (p.Arg413Thr)
c.1145G>C (p.Arg382Thr)
c.1100G>C (p.Arg367Thr)
2g.127048536C>TCA55334931BIN1c.1355G>A (p.Arg452Lys)
c.1772G>A (p.Arg591Lys)
c.1484G>A (p.Arg495Lys)
c.1547G>A (p.Arg516Lys)
c.1220G>A (p.Arg407Lys)
c.1511G>A (p.Arg504Lys)
c.1643G>A (p.Arg548Lys)
c.1265G>A (p.Arg422Lys)
c.1439G>A (p.Arg480Lys)
c.1418G>A (p.Arg473Lys)
c.1310G>A (p.Arg437Lys)
n.4638G>A
c.1817G>A (p.Arg606Lys)
c.1724G>A (p.Arg575Lys)
c.1679G>A (p.Arg560Lys)
c.1652G>A (p.Arg551Lys)
c.1403G>A (p.Arg468Lys)
c.1148G>A (p.Arg383Lys)
c.1685G>A (p.Arg562Lys)
c.1607G>A (p.Arg536Lys)
c.1577G>A (p.Arg526Lys)
c.1556G>A (p.Arg519Lys)
c.1532G>A (p.Arg511Lys)
c.1487G>A (p.Arg496Lys)
c.1448G>A (p.Arg483Lys)
c.1358G>A (p.Arg453Lys)
c.1313G>A (p.Arg438Lys)
c.1736G>A (p.Arg579Lys)
c.1691G>A (p.Arg564Lys)
c.1745G>A (p.Arg582Lys)
c.1442G>A (p.Arg481Lys)
c.1349G>A (p.Arg450Lys)
c.1346G>A (p.Arg449Lys)
c.1277G>A (p.Arg426Lys)
c.1241G>A (p.Arg414Lys)
c.1238G>A (p.Arg413Lys)
c.1145G>A (p.Arg382Lys)
c.1100G>A (p.Arg367Lys)
 dbSNP gnomAD v4
2g.127048539_127048540delCA2660970079BIN1c.1354_1355del (p.Arg452GlyfsTer14)
c.1771_1772del (p.Arg591GlyfsTer14)
c.1483_1484del (p.Arg495GlyfsTer14)
c.1546_1547del (p.Arg516GlyfsTer14)
c.1219_1220del (p.Arg407GlyfsTer14)
c.1510_1511del (p.Arg504GlyfsTer14)
c.1642_1643del (p.Arg548GlyfsTer14)
c.1264_1265del (p.Arg422GlyfsTer14)
c.1438_1439del (p.Arg480GlyfsTer14)
c.1417_1418del (p.Arg473GlyfsTer14)
c.1309_1310del (p.Arg437GlyfsTer14)
n.4637_4638del
c.1816_1817del (p.Arg606GlyfsTer14)
c.1723_1724del (p.Arg575GlyfsTer14)
c.1678_1679del (p.Arg560GlyfsTer14)
c.1651_1652del (p.Arg551GlyfsTer14)
c.1402_1403del (p.Arg468GlyfsTer14)
c.1147_1148del (p.Arg383GlyfsTer14)
c.1684_1685del (p.Arg562GlyfsTer14)
c.1606_1607del (p.Arg536GlyfsTer14)
c.1576_1577del (p.Arg526GlyfsTer14)
c.1555_1556del (p.Arg519GlyfsTer14)
c.1531_1532del (p.Arg511GlyfsTer14)
c.1486_1487del (p.Arg496GlyfsTer14)
c.1447_1448del (p.Arg483GlyfsTer14)
c.1357_1358del (p.Arg453GlyfsTer14)
c.1312_1313del (p.Arg438GlyfsTer14)
c.1735_1736del (p.Arg579GlyfsTer14)
c.1690_1691del (p.Arg564GlyfsTer14)
c.1744_1745del (p.Arg582GlyfsTer14)
c.1441_1442del (p.Arg481GlyfsTer14)
c.1348_1349del (p.Arg450GlyfsTer14)
c.1345_1346del (p.Arg449GlyfsTer14)
c.1276_1277del (p.Arg426GlyfsTer14)
c.1240_1241del (p.Arg414GlyfsTer14)
c.1237_1238del (p.Arg413GlyfsTer14)
c.1144_1145del (p.Arg382GlyfsTer14)
c.1099_1100del (p.Arg367GlyfsTer14)
 gnomAD v4
2g.127048537T>ACA348373318BIN1c.1354A>T (p.Arg452Trp)
c.1771A>T (p.Arg591Trp)
c.1483A>T (p.Arg495Trp)
c.1546A>T (p.Arg516Trp)
c.1219A>T (p.Arg407Trp)
c.1510A>T (p.Arg504Trp)
c.1642A>T (p.Arg548Trp)
c.1264A>T (p.Arg422Trp)
c.1438A>T (p.Arg480Trp)
c.1417A>T (p.Arg473Trp)
c.1309A>T (p.Arg437Trp)
n.4637A>T
c.1816A>T (p.Arg606Trp)
c.1723A>T (p.Arg575Trp)
c.1678A>T (p.Arg560Trp)
c.1651A>T (p.Arg551Trp)
c.1402A>T (p.Arg468Trp)
c.1147A>T (p.Arg383Trp)
c.1684A>T (p.Arg562Trp)
c.1606A>T (p.Arg536Trp)
c.1576A>T (p.Arg526Trp)
c.1555A>T (p.Arg519Trp)
c.1531A>T (p.Arg511Trp)
c.1486A>T (p.Arg496Trp)
c.1447A>T (p.Arg483Trp)
c.1357A>T (p.Arg453Trp)
c.1312A>T (p.Arg438Trp)
c.1735A>T (p.Arg579Trp)
c.1690A>T (p.Arg564Trp)
c.1744A>T (p.Arg582Trp)
c.1441A>T (p.Arg481Trp)
c.1348A>T (p.Arg450Trp)
c.1345A>T (p.Arg449Trp)
c.1276A>T (p.Arg426Trp)
c.1240A>T (p.Arg414Trp)
c.1237A>T (p.Arg413Trp)
c.1144A>T (p.Arg382Trp)
c.1099A>T (p.Arg367Trp)
 gnomAD v4
2g.127048537T>CCA348373315BIN1c.1354A>G (p.Arg452Gly)
c.1771A>G (p.Arg591Gly)
c.1483A>G (p.Arg495Gly)
c.1546A>G (p.Arg516Gly)
c.1219A>G (p.Arg407Gly)
c.1510A>G (p.Arg504Gly)
c.1642A>G (p.Arg548Gly)
c.1264A>G (p.Arg422Gly)
c.1438A>G (p.Arg480Gly)
c.1417A>G (p.Arg473Gly)
c.1309A>G (p.Arg437Gly)
n.4637A>G
c.1816A>G (p.Arg606Gly)
c.1723A>G (p.Arg575Gly)
c.1678A>G (p.Arg560Gly)
c.1651A>G (p.Arg551Gly)
c.1402A>G (p.Arg468Gly)
c.1147A>G (p.Arg383Gly)
c.1684A>G (p.Arg562Gly)
c.1606A>G (p.Arg536Gly)
c.1576A>G (p.Arg526Gly)
c.1555A>G (p.Arg519Gly)
c.1531A>G (p.Arg511Gly)
c.1486A>G (p.Arg496Gly)
c.1447A>G (p.Arg483Gly)
c.1357A>G (p.Arg453Gly)
c.1312A>G (p.Arg438Gly)
c.1735A>G (p.Arg579Gly)
c.1690A>G (p.Arg564Gly)
c.1744A>G (p.Arg582Gly)
c.1441A>G (p.Arg481Gly)
c.1348A>G (p.Arg450Gly)
c.1345A>G (p.Arg449Gly)
c.1276A>G (p.Arg426Gly)
c.1240A>G (p.Arg414Gly)
c.1237A>G (p.Arg413Gly)
c.1144A>G (p.Arg382Gly)
c.1099A>G (p.Arg367Gly)
 ClinVar dbSNP
2g.127048537T>GCA428593622BIN1c.1354A>C (p.Arg452=)
c.1771A>C (p.Arg591=)
c.1483A>C (p.Arg495=)
c.1546A>C (p.Arg516=)
c.1219A>C (p.Arg407=)
c.1510A>C (p.Arg504=)
c.1642A>C (p.Arg548=)
c.1264A>C (p.Arg422=)
c.1438A>C (p.Arg480=)
c.1417A>C (p.Arg473=)
c.1309A>C (p.Arg437=)
n.4637A>C
c.1816A>C (p.Arg606=)
c.1723A>C (p.Arg575=)
c.1678A>C (p.Arg560=)
c.1651A>C (p.Arg551=)
c.1402A>C (p.Arg468=)
c.1147A>C (p.Arg383=)
c.1684A>C (p.Arg562=)
c.1606A>C (p.Arg536=)
c.1576A>C (p.Arg526=)
c.1555A>C (p.Arg519=)
c.1531A>C (p.Arg511=)
c.1486A>C (p.Arg496=)
c.1447A>C (p.Arg483=)
c.1357A>C (p.Arg453=)
c.1312A>C (p.Arg438=)
c.1735A>C (p.Arg579=)
c.1690A>C (p.Arg564=)
c.1744A>C (p.Arg582=)
c.1441A>C (p.Arg481=)
c.1348A>C (p.Arg450=)
c.1345A>C (p.Arg449=)
c.1276A>C (p.Arg426=)
c.1240A>C (p.Arg414=)
c.1237A>C (p.Arg413=)
c.1144A>C (p.Arg382=)
c.1099A>C (p.Arg367=)
2g.127048538C>ACA348373320BIN1c.1353G>T (p.Glu451Asp)
c.1770G>T (p.Glu590Asp)
c.1482G>T (p.Glu494Asp)
c.1545G>T (p.Glu515Asp)
c.1218G>T (p.Glu406Asp)
c.1509G>T (p.Glu503Asp)
c.1641G>T (p.Glu547Asp)
c.1263G>T (p.Glu421Asp)
c.1437G>T (p.Glu479Asp)
c.1416G>T (p.Glu472Asp)
c.1308G>T (p.Glu436Asp)
n.4636G>T
c.1815G>T (p.Glu605Asp)
c.1722G>T (p.Glu574Asp)
c.1677G>T (p.Glu559Asp)
c.1650G>T (p.Glu550Asp)
c.1401G>T (p.Glu467Asp)
c.1146G>T (p.Glu382Asp)
c.1683G>T (p.Glu561Asp)
c.1605G>T (p.Glu535Asp)
c.1575G>T (p.Glu525Asp)
c.1554G>T (p.Glu518Asp)
c.1530G>T (p.Glu510Asp)
c.1485G>T (p.Glu495Asp)
c.1446G>T (p.Glu482Asp)
c.1356G>T (p.Glu452Asp)
c.1311G>T (p.Glu437Asp)
c.1734G>T (p.Glu578Asp)
c.1689G>T (p.Glu563Asp)
c.1743G>T (p.Glu581Asp)
c.1440G>T (p.Glu480Asp)
c.1347G>T (p.Glu449Asp)
c.1344G>T (p.Glu448Asp)
c.1275G>T (p.Glu425Asp)
c.1239G>T (p.Glu413Asp)
c.1236G>T (p.Glu412Asp)
c.1143G>T (p.Glu381Asp)
c.1098G>T (p.Glu366Asp)
2g.127048538C>GCA348373328BIN1c.1353G>C (p.Glu451Asp)
c.1770G>C (p.Glu590Asp)
c.1482G>C (p.Glu494Asp)
c.1545G>C (p.Glu515Asp)
c.1218G>C (p.Glu406Asp)
c.1509G>C (p.Glu503Asp)
c.1641G>C (p.Glu547Asp)
c.1263G>C (p.Glu421Asp)
c.1437G>C (p.Glu479Asp)
c.1416G>C (p.Glu472Asp)
c.1308G>C (p.Glu436Asp)
n.4636G>C
c.1815G>C (p.Glu605Asp)
c.1722G>C (p.Glu574Asp)
c.1677G>C (p.Glu559Asp)
c.1650G>C (p.Glu550Asp)
c.1401G>C (p.Glu467Asp)
c.1146G>C (p.Glu382Asp)
c.1683G>C (p.Glu561Asp)
c.1605G>C (p.Glu535Asp)
c.1575G>C (p.Glu525Asp)
c.1554G>C (p.Glu518Asp)
c.1530G>C (p.Glu510Asp)
c.1485G>C (p.Glu495Asp)
c.1446G>C (p.Glu482Asp)
c.1356G>C (p.Glu452Asp)
c.1311G>C (p.Glu437Asp)
c.1734G>C (p.Glu578Asp)
c.1689G>C (p.Glu563Asp)
c.1743G>C (p.Glu581Asp)
c.1440G>C (p.Glu480Asp)
c.1347G>C (p.Glu449Asp)
c.1344G>C (p.Glu448Asp)
c.1275G>C (p.Glu425Asp)
c.1239G>C (p.Glu413Asp)
c.1236G>C (p.Glu412Asp)
c.1143G>C (p.Glu381Asp)
c.1098G>C (p.Glu366Asp)
2g.127048538C>TCA428593623BIN1c.1353G>A (p.Glu451=)
c.1770G>A (p.Glu590=)
c.1482G>A (p.Glu494=)
c.1545G>A (p.Glu515=)
c.1218G>A (p.Glu406=)
c.1509G>A (p.Glu503=)
c.1641G>A (p.Glu547=)
c.1263G>A (p.Glu421=)
c.1437G>A (p.Glu479=)
c.1416G>A (p.Glu472=)
c.1308G>A (p.Glu436=)
n.4636G>A
c.1815G>A (p.Glu605=)
c.1722G>A (p.Glu574=)
c.1677G>A (p.Glu559=)
c.1650G>A (p.Glu550=)
c.1401G>A (p.Glu467=)
c.1146G>A (p.Glu382=)
c.1683G>A (p.Glu561=)
c.1605G>A (p.Glu535=)
c.1575G>A (p.Glu525=)
c.1554G>A (p.Glu518=)
c.1530G>A (p.Glu510=)
c.1485G>A (p.Glu495=)
c.1446G>A (p.Glu482=)
c.1356G>A (p.Glu452=)
c.1311G>A (p.Glu437=)
c.1734G>A (p.Glu578=)
c.1689G>A (p.Glu563=)
c.1743G>A (p.Glu581=)
c.1440G>A (p.Glu480=)
c.1347G>A (p.Glu449=)
c.1344G>A (p.Glu448=)
c.1275G>A (p.Glu425=)
c.1239G>A (p.Glu413=)
c.1236G>A (p.Glu412=)
c.1143G>A (p.Glu381=)
c.1098G>A (p.Glu366=)
2g.127048539T>ACA348373331BIN1c.1352A>T (p.Glu451Val)
c.1769A>T (p.Glu590Val)
c.1481A>T (p.Glu494Val)
c.1544A>T (p.Glu515Val)
c.1217A>T (p.Glu406Val)
c.1508A>T (p.Glu503Val)
c.1640A>T (p.Glu547Val)
c.1262A>T (p.Glu421Val)
c.1436A>T (p.Glu479Val)
c.1415A>T (p.Glu472Val)
c.1307A>T (p.Glu436Val)
n.4635A>T
c.1814A>T (p.Glu605Val)
c.1721A>T (p.Glu574Val)
c.1676A>T (p.Glu559Val)
c.1649A>T (p.Glu550Val)
c.1400A>T (p.Glu467Val)
c.1145A>T (p.Glu382Val)
c.1682A>T (p.Glu561Val)
c.1604A>T (p.Glu535Val)
c.1574A>T (p.Glu525Val)
c.1553A>T (p.Glu518Val)
c.1529A>T (p.Glu510Val)
c.1484A>T (p.Glu495Val)
c.1445A>T (p.Glu482Val)
c.1355A>T (p.Glu452Val)
c.1310A>T (p.Glu437Val)
c.1733A>T (p.Glu578Val)
c.1688A>T (p.Glu563Val)
c.1742A>T (p.Glu581Val)
c.1439A>T (p.Glu480Val)
c.1346A>T (p.Glu449Val)
c.1343A>T (p.Glu448Val)
c.1274A>T (p.Glu425Val)
c.1238A>T (p.Glu413Val)
c.1235A>T (p.Glu412Val)
c.1142A>T (p.Glu381Val)
c.1097A>T (p.Glu366Val)
2g.127048539T>CCA348373336BIN1c.1352A>G (p.Glu451Gly)
c.1769A>G (p.Glu590Gly)
c.1481A>G (p.Glu494Gly)
c.1544A>G (p.Glu515Gly)
c.1217A>G (p.Glu406Gly)
c.1508A>G (p.Glu503Gly)
c.1640A>G (p.Glu547Gly)
c.1262A>G (p.Glu421Gly)
c.1436A>G (p.Glu479Gly)
c.1415A>G (p.Glu472Gly)
c.1307A>G (p.Glu436Gly)
n.4635A>G
c.1814A>G (p.Glu605Gly)
c.1721A>G (p.Glu574Gly)
c.1676A>G (p.Glu559Gly)
c.1649A>G (p.Glu550Gly)
c.1400A>G (p.Glu467Gly)
c.1145A>G (p.Glu382Gly)
c.1682A>G (p.Glu561Gly)
c.1604A>G (p.Glu535Gly)
c.1574A>G (p.Glu525Gly)
c.1553A>G (p.Glu518Gly)
c.1529A>G (p.Glu510Gly)
c.1484A>G (p.Glu495Gly)
c.1445A>G (p.Glu482Gly)
c.1355A>G (p.Glu452Gly)
c.1310A>G (p.Glu437Gly)
c.1733A>G (p.Glu578Gly)
c.1688A>G (p.Glu563Gly)
c.1742A>G (p.Glu581Gly)
c.1439A>G (p.Glu480Gly)
c.1346A>G (p.Glu449Gly)
c.1343A>G (p.Glu448Gly)
c.1274A>G (p.Glu425Gly)
c.1238A>G (p.Glu413Gly)
c.1235A>G (p.Glu412Gly)
c.1142A>G (p.Glu381Gly)
c.1097A>G (p.Glu366Gly)
2g.127048539T>GCA348373334BIN1c.1352A>C (p.Glu451Ala)
c.1769A>C (p.Glu590Ala)
c.1481A>C (p.Glu494Ala)
c.1544A>C (p.Glu515Ala)
c.1217A>C (p.Glu406Ala)
c.1508A>C (p.Glu503Ala)
c.1640A>C (p.Glu547Ala)
c.1262A>C (p.Glu421Ala)
c.1436A>C (p.Glu479Ala)
c.1415A>C (p.Glu472Ala)
c.1307A>C (p.Glu436Ala)
n.4635A>C
c.1814A>C (p.Glu605Ala)
c.1721A>C (p.Glu574Ala)
c.1676A>C (p.Glu559Ala)
c.1649A>C (p.Glu550Ala)
c.1400A>C (p.Glu467Ala)
c.1145A>C (p.Glu382Ala)
c.1682A>C (p.Glu561Ala)
c.1604A>C (p.Glu535Ala)
c.1574A>C (p.Glu525Ala)
c.1553A>C (p.Glu518Ala)
c.1529A>C (p.Glu510Ala)
c.1484A>C (p.Glu495Ala)
c.1445A>C (p.Glu482Ala)
c.1355A>C (p.Glu452Ala)
c.1310A>C (p.Glu437Ala)
c.1733A>C (p.Glu578Ala)
c.1688A>C (p.Glu563Ala)
c.1742A>C (p.Glu581Ala)
c.1439A>C (p.Glu480Ala)
c.1346A>C (p.Glu449Ala)
c.1343A>C (p.Glu448Ala)
c.1274A>C (p.Glu425Ala)
c.1238A>C (p.Glu413Ala)
c.1235A>C (p.Glu412Ala)
c.1142A>C (p.Glu381Ala)
c.1097A>C (p.Glu366Ala)
2g.127048540C>ACA348373337BIN1c.1351G>T (p.Glu451Ter)
c.1768G>T (p.Glu590Ter)
c.1480G>T (p.Glu494Ter)
c.1543G>T (p.Glu515Ter)
c.1216G>T (p.Glu406Ter)
c.1507G>T (p.Glu503Ter)
c.1639G>T (p.Glu547Ter)
c.1261G>T (p.Glu421Ter)
c.1435G>T (p.Glu479Ter)
c.1414G>T (p.Glu472Ter)
c.1306G>T (p.Glu436Ter)
n.4634G>T
c.1813G>T (p.Glu605Ter)
c.1720G>T (p.Glu574Ter)
c.1675G>T (p.Glu559Ter)
c.1648G>T (p.Glu550Ter)
c.1399G>T (p.Glu467Ter)
c.1144G>T (p.Glu382Ter)
c.1681G>T (p.Glu561Ter)
c.1603G>T (p.Glu535Ter)
c.1573G>T (p.Glu525Ter)
c.1552G>T (p.Glu518Ter)
c.1528G>T (p.Glu510Ter)
c.1483G>T (p.Glu495Ter)
c.1444G>T (p.Glu482Ter)
c.1354G>T (p.Glu452Ter)
c.1309G>T (p.Glu437Ter)
c.1732G>T (p.Glu578Ter)
c.1687G>T (p.Glu563Ter)
c.1741G>T (p.Glu581Ter)
c.1438G>T (p.Glu480Ter)
c.1345G>T (p.Glu449Ter)
c.1342G>T (p.Glu448Ter)
c.1273G>T (p.Glu425Ter)
c.1237G>T (p.Glu413Ter)
c.1234G>T (p.Glu412Ter)
c.1141G>T (p.Glu381Ter)
c.1096G>T (p.Glu366Ter)
2g.127048540C>GCA348373339BIN1c.1351G>C (p.Glu451Gln)
c.1768G>C (p.Glu590Gln)
c.1480G>C (p.Glu494Gln)
c.1543G>C (p.Glu515Gln)
c.1216G>C (p.Glu406Gln)
c.1507G>C (p.Glu503Gln)
c.1639G>C (p.Glu547Gln)
c.1261G>C (p.Glu421Gln)
c.1435G>C (p.Glu479Gln)
c.1414G>C (p.Glu472Gln)
c.1306G>C (p.Glu436Gln)
n.4634G>C
c.1813G>C (p.Glu605Gln)
c.1720G>C (p.Glu574Gln)
c.1675G>C (p.Glu559Gln)
c.1648G>C (p.Glu550Gln)
c.1399G>C (p.Glu467Gln)
c.1144G>C (p.Glu382Gln)
c.1681G>C (p.Glu561Gln)
c.1603G>C (p.Glu535Gln)
c.1573G>C (p.Glu525Gln)
c.1552G>C (p.Glu518Gln)
c.1528G>C (p.Glu510Gln)
c.1483G>C (p.Glu495Gln)
c.1444G>C (p.Glu482Gln)
c.1354G>C (p.Glu452Gln)
c.1309G>C (p.Glu437Gln)
c.1732G>C (p.Glu578Gln)
c.1687G>C (p.Glu563Gln)
c.1741G>C (p.Glu581Gln)
c.1438G>C (p.Glu480Gln)
c.1345G>C (p.Glu449Gln)
c.1342G>C (p.Glu448Gln)
c.1273G>C (p.Glu425Gln)
c.1237G>C (p.Glu413Gln)
c.1234G>C (p.Glu412Gln)
c.1141G>C (p.Glu381Gln)
c.1096G>C (p.Glu366Gln)
2g.127048540C>TCA348373338BIN1c.1351G>A (p.Glu451Lys)
c.1768G>A (p.Glu590Lys)
c.1480G>A (p.Glu494Lys)
c.1543G>A (p.Glu515Lys)
c.1216G>A (p.Glu406Lys)
c.1507G>A (p.Glu503Lys)
c.1639G>A (p.Glu547Lys)
c.1261G>A (p.Glu421Lys)
c.1435G>A (p.Glu479Lys)
c.1414G>A (p.Glu472Lys)
c.1306G>A (p.Glu436Lys)
n.4634G>A
c.1813G>A (p.Glu605Lys)
c.1720G>A (p.Glu574Lys)
c.1675G>A (p.Glu559Lys)
c.1648G>A (p.Glu550Lys)
c.1399G>A (p.Glu467Lys)
c.1144G>A (p.Glu382Lys)
c.1681G>A (p.Glu561Lys)
c.1603G>A (p.Glu535Lys)
c.1573G>A (p.Glu525Lys)
c.1552G>A (p.Glu518Lys)
c.1528G>A (p.Glu510Lys)
c.1483G>A (p.Glu495Lys)
c.1444G>A (p.Glu482Lys)
c.1354G>A (p.Glu452Lys)
c.1309G>A (p.Glu437Lys)
c.1732G>A (p.Glu578Lys)
c.1687G>A (p.Glu563Lys)
c.1741G>A (p.Glu581Lys)
c.1438G>A (p.Glu480Lys)
c.1345G>A (p.Glu449Lys)
c.1342G>A (p.Glu448Lys)
c.1273G>A (p.Glu425Lys)
c.1237G>A (p.Glu413Lys)
c.1234G>A (p.Glu412Lys)
c.1141G>A (p.Glu381Lys)
c.1096G>A (p.Glu366Lys)
 gnomAD v4
2g.127048541A>CCA428593624BIN1c.1350T>G (p.Thr450=)
c.1767T>G (p.Thr589=)
c.1479T>G (p.Thr493=)
c.1542T>G (p.Thr514=)
c.1215T>G (p.Thr405=)
c.1506T>G (p.Thr502=)
c.1638T>G (p.Thr546=)
c.1260T>G (p.Thr420=)
c.1434T>G (p.Thr478=)
c.1413T>G (p.Thr471=)
c.1305T>G (p.Thr435=)
n.4633T>G
c.1812T>G (p.Thr604=)
c.1719T>G (p.Thr573=)
c.1674T>G (p.Thr558=)
c.1647T>G (p.Thr549=)
c.1398T>G (p.Thr466=)
c.1143T>G (p.Thr381=)
c.1680T>G (p.Thr560=)
c.1602T>G (p.Thr534=)
c.1572T>G (p.Thr524=)
c.1551T>G (p.Thr517=)
c.1527T>G (p.Thr509=)
c.1482T>G (p.Thr494=)
c.1443T>G (p.Thr481=)
c.1353T>G (p.Thr451=)
c.1308T>G (p.Thr436=)
c.1731T>G (p.Thr577=)
c.1686T>G (p.Thr562=)
c.1740T>G (p.Thr580=)
c.1437T>G (p.Thr479=)
c.1344T>G (p.Thr448=)
c.1341T>G (p.Thr447=)
c.1272T>G (p.Thr424=)
c.1236T>G (p.Thr412=)
c.1233T>G (p.Thr411=)
c.1140T>G (p.Thr380=)
c.1095T>G (p.Thr365=)
2g.127048541A>GCA428593625BIN1c.1350T>C (p.Thr450=)
c.1767T>C (p.Thr589=)
c.1479T>C (p.Thr493=)
c.1542T>C (p.Thr514=)
c.1215T>C (p.Thr405=)
c.1506T>C (p.Thr502=)
c.1638T>C (p.Thr546=)
c.1260T>C (p.Thr420=)
c.1434T>C (p.Thr478=)
c.1413T>C (p.Thr471=)
c.1305T>C (p.Thr435=)
n.4633T>C
c.1812T>C (p.Thr604=)
c.1719T>C (p.Thr573=)
c.1674T>C (p.Thr558=)
c.1647T>C (p.Thr549=)
c.1398T>C (p.Thr466=)
c.1143T>C (p.Thr381=)
c.1680T>C (p.Thr560=)
c.1602T>C (p.Thr534=)
c.1572T>C (p.Thr524=)
c.1551T>C (p.Thr517=)
c.1527T>C (p.Thr509=)
c.1482T>C (p.Thr494=)
c.1443T>C (p.Thr481=)
c.1353T>C (p.Thr451=)
c.1308T>C (p.Thr436=)
c.1731T>C (p.Thr577=)
c.1686T>C (p.Thr562=)
c.1740T>C (p.Thr580=)
c.1437T>C (p.Thr479=)
c.1344T>C (p.Thr448=)
c.1341T>C (p.Thr447=)
c.1272T>C (p.Thr424=)
c.1236T>C (p.Thr412=)
c.1233T>C (p.Thr411=)
c.1140T>C (p.Thr380=)
c.1095T>C (p.Thr365=)
2g.127048541A>TCA428593626BIN1c.1350T>A (p.Thr450=)
c.1767T>A (p.Thr589=)
c.1479T>A (p.Thr493=)
c.1542T>A (p.Thr514=)
c.1215T>A (p.Thr405=)
c.1506T>A (p.Thr502=)
c.1638T>A (p.Thr546=)
c.1260T>A (p.Thr420=)
c.1434T>A (p.Thr478=)
c.1413T>A (p.Thr471=)
c.1305T>A (p.Thr435=)
n.4633T>A
c.1812T>A (p.Thr604=)
c.1719T>A (p.Thr573=)
c.1674T>A (p.Thr558=)
c.1647T>A (p.Thr549=)
c.1398T>A (p.Thr466=)
c.1143T>A (p.Thr381=)
c.1680T>A (p.Thr560=)
c.1602T>A (p.Thr534=)
c.1572T>A (p.Thr524=)
c.1551T>A (p.Thr517=)
c.1527T>A (p.Thr509=)
c.1482T>A (p.Thr494=)
c.1443T>A (p.Thr481=)
c.1353T>A (p.Thr451=)
c.1308T>A (p.Thr436=)
c.1731T>A (p.Thr577=)
c.1686T>A (p.Thr562=)
c.1740T>A (p.Thr580=)
c.1437T>A (p.Thr479=)
c.1344T>A (p.Thr448=)
c.1341T>A (p.Thr447=)
c.1272T>A (p.Thr424=)
c.1236T>A (p.Thr412=)
c.1233T>A (p.Thr411=)
c.1140T>A (p.Thr380=)
c.1095T>A (p.Thr365=)
2g.127048542G>ACA1856926BIN1c.1349C>T (p.Thr450Ile)
c.1766C>T (p.Thr589Ile)
c.1478C>T (p.Thr493Ile)
c.1541C>T (p.Thr514Ile)
c.1214C>T (p.Thr405Ile)
c.1505C>T (p.Thr502Ile)
c.1637C>T (p.Thr546Ile)
c.1259C>T (p.Thr420Ile)
c.1433C>T (p.Thr478Ile)
c.1412C>T (p.Thr471Ile)
c.1304C>T (p.Thr435Ile)
n.4632C>T
c.1811C>T (p.Thr604Ile)
c.1718C>T (p.Thr573Ile)
c.1673C>T (p.Thr558Ile)
c.1646C>T (p.Thr549Ile)
c.1397C>T (p.Thr466Ile)
c.1142C>T (p.Thr381Ile)
c.1679C>T (p.Thr560Ile)
c.1601C>T (p.Thr534Ile)
c.1571C>T (p.Thr524Ile)
c.1550C>T (p.Thr517Ile)
c.1526C>T (p.Thr509Ile)
c.1481C>T (p.Thr494Ile)
c.1442C>T (p.Thr481Ile)
c.1352C>T (p.Thr451Ile)
c.1307C>T (p.Thr436Ile)
c.1730C>T (p.Thr577Ile)
c.1685C>T (p.Thr562Ile)
c.1739C>T (p.Thr580Ile)
c.1436C>T (p.Thr479Ile)
c.1343C>T (p.Thr448Ile)
c.1340C>T (p.Thr447Ile)
c.1271C>T (p.Thr424Ile)
c.1235C>T (p.Thr412Ile)
c.1232C>T (p.Thr411Ile)
c.1139C>T (p.Thr380Ile)
c.1094C>T (p.Thr365Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048542G>CCA348373342BIN1c.1349C>G (p.Thr450Ser)
c.1766C>G (p.Thr589Ser)
c.1478C>G (p.Thr493Ser)
c.1541C>G (p.Thr514Ser)
c.1214C>G (p.Thr405Ser)
c.1505C>G (p.Thr502Ser)
c.1637C>G (p.Thr546Ser)
c.1259C>G (p.Thr420Ser)
c.1433C>G (p.Thr478Ser)
c.1412C>G (p.Thr471Ser)
c.1304C>G (p.Thr435Ser)
n.4632C>G
c.1811C>G (p.Thr604Ser)
c.1718C>G (p.Thr573Ser)
c.1673C>G (p.Thr558Ser)
c.1646C>G (p.Thr549Ser)
c.1397C>G (p.Thr466Ser)
c.1142C>G (p.Thr381Ser)
c.1679C>G (p.Thr560Ser)
c.1601C>G (p.Thr534Ser)
c.1571C>G (p.Thr524Ser)
c.1550C>G (p.Thr517Ser)
c.1526C>G (p.Thr509Ser)
c.1481C>G (p.Thr494Ser)
c.1442C>G (p.Thr481Ser)
c.1352C>G (p.Thr451Ser)
c.1307C>G (p.Thr436Ser)
c.1730C>G (p.Thr577Ser)
c.1685C>G (p.Thr562Ser)
c.1739C>G (p.Thr580Ser)
c.1436C>G (p.Thr479Ser)
c.1343C>G (p.Thr448Ser)
c.1340C>G (p.Thr447Ser)
c.1271C>G (p.Thr424Ser)
c.1235C>G (p.Thr412Ser)
c.1232C>G (p.Thr411Ser)
c.1139C>G (p.Thr380Ser)
c.1094C>G (p.Thr365Ser)
2g.127048542G=CA1286710707BIN1c.1349C= (p.Thr450=)
c.1766C= (p.Thr589=)
c.1478C= (p.Thr493=)
c.1541C= (p.Thr514=)
c.1214C= (p.Thr405=)
c.1505C= (p.Thr502=)
c.1637C= (p.Thr546=)
c.1259C= (p.Thr420=)
c.1433C= (p.Thr478=)
c.1412C= (p.Thr471=)
c.1304C= (p.Thr435=)
n.4632C=
c.1811C= (p.Thr604=)
c.1718C= (p.Thr573=)
c.1673C= (p.Thr558=)
c.1646C= (p.Thr549=)
c.1397C= (p.Thr466=)
c.1142C= (p.Thr381=)
c.1679C= (p.Thr560=)
c.1601C= (p.Thr534=)
c.1571C= (p.Thr524=)
c.1550C= (p.Thr517=)
c.1526C= (p.Thr509=)
c.1481C= (p.Thr494=)
c.1442C= (p.Thr481=)
c.1352C= (p.Thr451=)
c.1307C= (p.Thr436=)
c.1730C= (p.Thr577=)
c.1685C= (p.Thr562=)
c.1739C= (p.Thr580=)
c.1436C= (p.Thr479=)
c.1343C= (p.Thr448=)
c.1340C= (p.Thr447=)
c.1271C= (p.Thr424=)
c.1235C= (p.Thr412=)
c.1232C= (p.Thr411=)
c.1139C= (p.Thr380=)
c.1094C= (p.Thr365=)
2g.127048542G>TCA348373341BIN1c.1349C>A (p.Thr450Asn)
c.1766C>A (p.Thr589Asn)
c.1478C>A (p.Thr493Asn)
c.1541C>A (p.Thr514Asn)
c.1214C>A (p.Thr405Asn)
c.1505C>A (p.Thr502Asn)
c.1637C>A (p.Thr546Asn)
c.1259C>A (p.Thr420Asn)
c.1433C>A (p.Thr478Asn)
c.1412C>A (p.Thr471Asn)
c.1304C>A (p.Thr435Asn)
n.4632C>A
c.1811C>A (p.Thr604Asn)
c.1718C>A (p.Thr573Asn)
c.1673C>A (p.Thr558Asn)
c.1646C>A (p.Thr549Asn)
c.1397C>A (p.Thr466Asn)
c.1142C>A (p.Thr381Asn)
c.1679C>A (p.Thr560Asn)
c.1601C>A (p.Thr534Asn)
c.1571C>A (p.Thr524Asn)
c.1550C>A (p.Thr517Asn)
c.1526C>A (p.Thr509Asn)
c.1481C>A (p.Thr494Asn)
c.1442C>A (p.Thr481Asn)
c.1352C>A (p.Thr451Asn)
c.1307C>A (p.Thr436Asn)
c.1730C>A (p.Thr577Asn)
c.1685C>A (p.Thr562Asn)
c.1739C>A (p.Thr580Asn)
c.1436C>A (p.Thr479Asn)
c.1343C>A (p.Thr448Asn)
c.1340C>A (p.Thr447Asn)
c.1271C>A (p.Thr424Asn)
c.1235C>A (p.Thr412Asn)
c.1232C>A (p.Thr411Asn)
c.1139C>A (p.Thr380Asn)
c.1094C>A (p.Thr365Asn)
2g.127048543T>ACA348373343BIN1c.1348A>T (p.Thr450Ser)
c.1765A>T (p.Thr589Ser)
c.1477A>T (p.Thr493Ser)
c.1540A>T (p.Thr514Ser)
c.1213A>T (p.Thr405Ser)
c.1504A>T (p.Thr502Ser)
c.1636A>T (p.Thr546Ser)
c.1258A>T (p.Thr420Ser)
c.1432A>T (p.Thr478Ser)
c.1411A>T (p.Thr471Ser)
c.1303A>T (p.Thr435Ser)
n.4631A>T
c.1810A>T (p.Thr604Ser)
c.1717A>T (p.Thr573Ser)
c.1672A>T (p.Thr558Ser)
c.1645A>T (p.Thr549Ser)
c.1396A>T (p.Thr466Ser)
c.1141A>T (p.Thr381Ser)
c.1678A>T (p.Thr560Ser)
c.1600A>T (p.Thr534Ser)
c.1570A>T (p.Thr524Ser)
c.1549A>T (p.Thr517Ser)
c.1525A>T (p.Thr509Ser)
c.1480A>T (p.Thr494Ser)
c.1441A>T (p.Thr481Ser)
c.1351A>T (p.Thr451Ser)
c.1306A>T (p.Thr436Ser)
c.1729A>T (p.Thr577Ser)
c.1684A>T (p.Thr562Ser)
c.1738A>T (p.Thr580Ser)
c.1435A>T (p.Thr479Ser)
c.1342A>T (p.Thr448Ser)
c.1339A>T (p.Thr447Ser)
c.1270A>T (p.Thr424Ser)
c.1234A>T (p.Thr412Ser)
c.1231A>T (p.Thr411Ser)
c.1138A>T (p.Thr380Ser)
c.1093A>T (p.Thr365Ser)
2g.127048543T>CCA348373345BIN1c.1348A>G (p.Thr450Ala)
c.1765A>G (p.Thr589Ala)
c.1477A>G (p.Thr493Ala)
c.1540A>G (p.Thr514Ala)
c.1213A>G (p.Thr405Ala)
c.1504A>G (p.Thr502Ala)
c.1636A>G (p.Thr546Ala)
c.1258A>G (p.Thr420Ala)
c.1432A>G (p.Thr478Ala)
c.1411A>G (p.Thr471Ala)
c.1303A>G (p.Thr435Ala)
n.4631A>G
c.1810A>G (p.Thr604Ala)
c.1717A>G (p.Thr573Ala)
c.1672A>G (p.Thr558Ala)
c.1645A>G (p.Thr549Ala)
c.1396A>G (p.Thr466Ala)
c.1141A>G (p.Thr381Ala)
c.1678A>G (p.Thr560Ala)
c.1600A>G (p.Thr534Ala)
c.1570A>G (p.Thr524Ala)
c.1549A>G (p.Thr517Ala)
c.1525A>G (p.Thr509Ala)
c.1480A>G (p.Thr494Ala)
c.1441A>G (p.Thr481Ala)
c.1351A>G (p.Thr451Ala)
c.1306A>G (p.Thr436Ala)
c.1729A>G (p.Thr577Ala)
c.1684A>G (p.Thr562Ala)
c.1738A>G (p.Thr580Ala)
c.1435A>G (p.Thr479Ala)
c.1342A>G (p.Thr448Ala)
c.1339A>G (p.Thr447Ala)
c.1270A>G (p.Thr424Ala)
c.1234A>G (p.Thr412Ala)
c.1231A>G (p.Thr411Ala)
c.1138A>G (p.Thr380Ala)
c.1093A>G (p.Thr365Ala)
2g.127048543T>GCA348373344BIN1c.1348A>C (p.Thr450Pro)
c.1765A>C (p.Thr589Pro)
c.1477A>C (p.Thr493Pro)
c.1540A>C (p.Thr514Pro)
c.1213A>C (p.Thr405Pro)
c.1504A>C (p.Thr502Pro)
c.1636A>C (p.Thr546Pro)
c.1258A>C (p.Thr420Pro)
c.1432A>C (p.Thr478Pro)
c.1411A>C (p.Thr471Pro)
c.1303A>C (p.Thr435Pro)
n.4631A>C
c.1810A>C (p.Thr604Pro)
c.1717A>C (p.Thr573Pro)
c.1672A>C (p.Thr558Pro)
c.1645A>C (p.Thr549Pro)
c.1396A>C (p.Thr466Pro)
c.1141A>C (p.Thr381Pro)
c.1678A>C (p.Thr560Pro)
c.1600A>C (p.Thr534Pro)
c.1570A>C (p.Thr524Pro)
c.1549A>C (p.Thr517Pro)
c.1525A>C (p.Thr509Pro)
c.1480A>C (p.Thr494Pro)
c.1441A>C (p.Thr481Pro)
c.1351A>C (p.Thr451Pro)
c.1306A>C (p.Thr436Pro)
c.1729A>C (p.Thr577Pro)
c.1684A>C (p.Thr562Pro)
c.1738A>C (p.Thr580Pro)
c.1435A>C (p.Thr479Pro)
c.1342A>C (p.Thr448Pro)
c.1339A>C (p.Thr447Pro)
c.1270A>C (p.Thr424Pro)
c.1234A>C (p.Thr412Pro)
c.1231A>C (p.Thr411Pro)
c.1138A>C (p.Thr380Pro)
c.1093A>C (p.Thr365Pro)
2g.127048544G>ACA428593627BIN1c.1347C>T (p.Phe449=)
c.1764C>T (p.Phe588=)
c.1476C>T (p.Phe492=)
c.1539C>T (p.Phe513=)
c.1212C>T (p.Phe404=)
c.1503C>T (p.Phe501=)
c.1635C>T (p.Phe545=)
c.1257C>T (p.Phe419=)
c.1431C>T (p.Phe477=)
c.1410C>T (p.Phe470=)
c.1302C>T (p.Phe434=)
n.4630C>T
c.1809C>T (p.Phe603=)
c.1716C>T (p.Phe572=)
c.1671C>T (p.Phe557=)
c.1644C>T (p.Phe548=)
c.1395C>T (p.Phe465=)
c.1140C>T (p.Phe380=)
c.1677C>T (p.Phe559=)
c.1599C>T (p.Phe533=)
c.1569C>T (p.Phe523=)
c.1548C>T (p.Phe516=)
c.1524C>T (p.Phe508=)
c.1479C>T (p.Phe493=)
c.1440C>T (p.Phe480=)
c.1350C>T (p.Phe450=)
c.1305C>T (p.Phe435=)
c.1728C>T (p.Phe576=)
c.1683C>T (p.Phe561=)
c.1737C>T (p.Phe579=)
c.1434C>T (p.Phe478=)
c.1341C>T (p.Phe447=)
c.1338C>T (p.Phe446=)
c.1269C>T (p.Phe423=)
c.1233C>T (p.Phe411=)
c.1230C>T (p.Phe410=)
c.1137C>T (p.Phe379=)
c.1092C>T (p.Phe364=)
 gnomAD v4
2g.127048544G>CCA348373347BIN1c.1347C>G (p.Phe449Leu)
c.1764C>G (p.Phe588Leu)
c.1476C>G (p.Phe492Leu)
c.1539C>G (p.Phe513Leu)
c.1212C>G (p.Phe404Leu)
c.1503C>G (p.Phe501Leu)
c.1635C>G (p.Phe545Leu)
c.1257C>G (p.Phe419Leu)
c.1431C>G (p.Phe477Leu)
c.1410C>G (p.Phe470Leu)
c.1302C>G (p.Phe434Leu)
n.4630C>G
c.1809C>G (p.Phe603Leu)
c.1716C>G (p.Phe572Leu)
c.1671C>G (p.Phe557Leu)
c.1644C>G (p.Phe548Leu)
c.1395C>G (p.Phe465Leu)
c.1140C>G (p.Phe380Leu)
c.1677C>G (p.Phe559Leu)
c.1599C>G (p.Phe533Leu)
c.1569C>G (p.Phe523Leu)
c.1548C>G (p.Phe516Leu)
c.1524C>G (p.Phe508Leu)
c.1479C>G (p.Phe493Leu)
c.1440C>G (p.Phe480Leu)
c.1350C>G (p.Phe450Leu)
c.1305C>G (p.Phe435Leu)
c.1728C>G (p.Phe576Leu)
c.1683C>G (p.Phe561Leu)
c.1737C>G (p.Phe579Leu)
c.1434C>G (p.Phe478Leu)
c.1341C>G (p.Phe447Leu)
c.1338C>G (p.Phe446Leu)
c.1269C>G (p.Phe423Leu)
c.1233C>G (p.Phe411Leu)
c.1230C>G (p.Phe410Leu)
c.1137C>G (p.Phe379Leu)
c.1092C>G (p.Phe364Leu)
2g.127048544G>TCA348373348BIN1c.1347C>A (p.Phe449Leu)
c.1764C>A (p.Phe588Leu)
c.1476C>A (p.Phe492Leu)
c.1539C>A (p.Phe513Leu)
c.1212C>A (p.Phe404Leu)
c.1503C>A (p.Phe501Leu)
c.1635C>A (p.Phe545Leu)
c.1257C>A (p.Phe419Leu)
c.1431C>A (p.Phe477Leu)
c.1410C>A (p.Phe470Leu)
c.1302C>A (p.Phe434Leu)
n.4630C>A
c.1809C>A (p.Phe603Leu)
c.1716C>A (p.Phe572Leu)
c.1671C>A (p.Phe557Leu)
c.1644C>A (p.Phe548Leu)
c.1395C>A (p.Phe465Leu)
c.1140C>A (p.Phe380Leu)
c.1677C>A (p.Phe559Leu)
c.1599C>A (p.Phe533Leu)
c.1569C>A (p.Phe523Leu)
c.1548C>A (p.Phe516Leu)
c.1524C>A (p.Phe508Leu)
c.1479C>A (p.Phe493Leu)
c.1440C>A (p.Phe480Leu)
c.1350C>A (p.Phe450Leu)
c.1305C>A (p.Phe435Leu)
c.1728C>A (p.Phe576Leu)
c.1683C>A (p.Phe561Leu)
c.1737C>A (p.Phe579Leu)
c.1434C>A (p.Phe478Leu)
c.1341C>A (p.Phe447Leu)
c.1338C>A (p.Phe446Leu)
c.1269C>A (p.Phe423Leu)
c.1233C>A (p.Phe411Leu)
c.1230C>A (p.Phe410Leu)
c.1137C>A (p.Phe379Leu)
c.1092C>A (p.Phe364Leu)
2g.127048545A>CCA348373351BIN1c.1346T>G (p.Phe449Cys)
c.1763T>G (p.Phe588Cys)
c.1475T>G (p.Phe492Cys)
c.1538T>G (p.Phe513Cys)
c.1211T>G (p.Phe404Cys)
c.1502T>G (p.Phe501Cys)
c.1634T>G (p.Phe545Cys)
c.1256T>G (p.Phe419Cys)
c.1430T>G (p.Phe477Cys)
c.1409T>G (p.Phe470Cys)
c.1301T>G (p.Phe434Cys)
n.4629T>G
c.1808T>G (p.Phe603Cys)
c.1715T>G (p.Phe572Cys)
c.1670T>G (p.Phe557Cys)
c.1643T>G (p.Phe548Cys)
c.1394T>G (p.Phe465Cys)
c.1139T>G (p.Phe380Cys)
c.1676T>G (p.Phe559Cys)
c.1598T>G (p.Phe533Cys)
c.1568T>G (p.Phe523Cys)
c.1547T>G (p.Phe516Cys)
c.1523T>G (p.Phe508Cys)
c.1478T>G (p.Phe493Cys)
c.1439T>G (p.Phe480Cys)
c.1349T>G (p.Phe450Cys)
c.1304T>G (p.Phe435Cys)
c.1727T>G (p.Phe576Cys)
c.1682T>G (p.Phe561Cys)
c.1736T>G (p.Phe579Cys)
c.1433T>G (p.Phe478Cys)
c.1340T>G (p.Phe447Cys)
c.1337T>G (p.Phe446Cys)
c.1268T>G (p.Phe423Cys)
c.1232T>G (p.Phe411Cys)
c.1229T>G (p.Phe410Cys)
c.1136T>G (p.Phe379Cys)
c.1091T>G (p.Phe364Cys)
2g.127048545A>GCA348373359BIN1c.1346T>C (p.Phe449Ser)
c.1763T>C (p.Phe588Ser)
c.1475T>C (p.Phe492Ser)
c.1538T>C (p.Phe513Ser)
c.1211T>C (p.Phe404Ser)
c.1502T>C (p.Phe501Ser)
c.1634T>C (p.Phe545Ser)
c.1256T>C (p.Phe419Ser)
c.1430T>C (p.Phe477Ser)
c.1409T>C (p.Phe470Ser)
c.1301T>C (p.Phe434Ser)
n.4629T>C
c.1808T>C (p.Phe603Ser)
c.1715T>C (p.Phe572Ser)
c.1670T>C (p.Phe557Ser)
c.1643T>C (p.Phe548Ser)
c.1394T>C (p.Phe465Ser)
c.1139T>C (p.Phe380Ser)
c.1676T>C (p.Phe559Ser)
c.1598T>C (p.Phe533Ser)
c.1568T>C (p.Phe523Ser)
c.1547T>C (p.Phe516Ser)
c.1523T>C (p.Phe508Ser)
c.1478T>C (p.Phe493Ser)
c.1439T>C (p.Phe480Ser)
c.1349T>C (p.Phe450Ser)
c.1304T>C (p.Phe435Ser)
c.1727T>C (p.Phe576Ser)
c.1682T>C (p.Phe561Ser)
c.1736T>C (p.Phe579Ser)
c.1433T>C (p.Phe478Ser)
c.1340T>C (p.Phe447Ser)
c.1337T>C (p.Phe446Ser)
c.1268T>C (p.Phe423Ser)
c.1232T>C (p.Phe411Ser)
c.1229T>C (p.Phe410Ser)
c.1136T>C (p.Phe379Ser)
c.1091T>C (p.Phe364Ser)
2g.127048545A>TCA348373352BIN1c.1346T>A (p.Phe449Tyr)
c.1763T>A (p.Phe588Tyr)
c.1475T>A (p.Phe492Tyr)
c.1538T>A (p.Phe513Tyr)
c.1211T>A (p.Phe404Tyr)
c.1502T>A (p.Phe501Tyr)
c.1634T>A (p.Phe545Tyr)
c.1256T>A (p.Phe419Tyr)
c.1430T>A (p.Phe477Tyr)
c.1409T>A (p.Phe470Tyr)
c.1301T>A (p.Phe434Tyr)
n.4629T>A
c.1808T>A (p.Phe603Tyr)
c.1715T>A (p.Phe572Tyr)
c.1670T>A (p.Phe557Tyr)
c.1643T>A (p.Phe548Tyr)
c.1394T>A (p.Phe465Tyr)
c.1139T>A (p.Phe380Tyr)
c.1676T>A (p.Phe559Tyr)
c.1598T>A (p.Phe533Tyr)
c.1568T>A (p.Phe523Tyr)
c.1547T>A (p.Phe516Tyr)
c.1523T>A (p.Phe508Tyr)
c.1478T>A (p.Phe493Tyr)
c.1439T>A (p.Phe480Tyr)
c.1349T>A (p.Phe450Tyr)
c.1304T>A (p.Phe435Tyr)
c.1727T>A (p.Phe576Tyr)
c.1682T>A (p.Phe561Tyr)
c.1736T>A (p.Phe579Tyr)
c.1433T>A (p.Phe478Tyr)
c.1340T>A (p.Phe447Tyr)
c.1337T>A (p.Phe446Tyr)
c.1268T>A (p.Phe423Tyr)
c.1232T>A (p.Phe411Tyr)
c.1229T>A (p.Phe410Tyr)
c.1136T>A (p.Phe379Tyr)
c.1091T>A (p.Phe364Tyr)
2g.127048546A>CCA348373361BIN1c.1345T>G (p.Phe449Val)
c.1762T>G (p.Phe588Val)
c.1474T>G (p.Phe492Val)
c.1537T>G (p.Phe513Val)
c.1210T>G (p.Phe404Val)
c.1501T>G (p.Phe501Val)
c.1633T>G (p.Phe545Val)
c.1255T>G (p.Phe419Val)
c.1429T>G (p.Phe477Val)
c.1408T>G (p.Phe470Val)
c.1300T>G (p.Phe434Val)
n.4628T>G
c.1807T>G (p.Phe603Val)
c.1714T>G (p.Phe572Val)
c.1669T>G (p.Phe557Val)
c.1642T>G (p.Phe548Val)
c.1393T>G (p.Phe465Val)
c.1138T>G (p.Phe380Val)
c.1675T>G (p.Phe559Val)
c.1597T>G (p.Phe533Val)
c.1567T>G (p.Phe523Val)
c.1546T>G (p.Phe516Val)
c.1522T>G (p.Phe508Val)
c.1477T>G (p.Phe493Val)
c.1438T>G (p.Phe480Val)
c.1348T>G (p.Phe450Val)
c.1303T>G (p.Phe435Val)
c.1726T>G (p.Phe576Val)
c.1681T>G (p.Phe561Val)
c.1735T>G (p.Phe579Val)
c.1432T>G (p.Phe478Val)
c.1339T>G (p.Phe447Val)
c.1336T>G (p.Phe446Val)
c.1267T>G (p.Phe423Val)
c.1231T>G (p.Phe411Val)
c.1228T>G (p.Phe410Val)
c.1135T>G (p.Phe379Val)
c.1090T>G (p.Phe364Val)
2g.127048546A>GCA348373362BIN1c.1345T>C (p.Phe449Leu)
c.1762T>C (p.Phe588Leu)
c.1474T>C (p.Phe492Leu)
c.1537T>C (p.Phe513Leu)
c.1210T>C (p.Phe404Leu)
c.1501T>C (p.Phe501Leu)
c.1633T>C (p.Phe545Leu)
c.1255T>C (p.Phe419Leu)
c.1429T>C (p.Phe477Leu)
c.1408T>C (p.Phe470Leu)
c.1300T>C (p.Phe434Leu)
n.4628T>C
c.1807T>C (p.Phe603Leu)
c.1714T>C (p.Phe572Leu)
c.1669T>C (p.Phe557Leu)
c.1642T>C (p.Phe548Leu)
c.1393T>C (p.Phe465Leu)
c.1138T>C (p.Phe380Leu)
c.1675T>C (p.Phe559Leu)
c.1597T>C (p.Phe533Leu)
c.1567T>C (p.Phe523Leu)
c.1546T>C (p.Phe516Leu)
c.1522T>C (p.Phe508Leu)
c.1477T>C (p.Phe493Leu)
c.1438T>C (p.Phe480Leu)
c.1348T>C (p.Phe450Leu)
c.1303T>C (p.Phe435Leu)
c.1726T>C (p.Phe576Leu)
c.1681T>C (p.Phe561Leu)
c.1735T>C (p.Phe579Leu)
c.1432T>C (p.Phe478Leu)
c.1339T>C (p.Phe447Leu)
c.1336T>C (p.Phe446Leu)
c.1267T>C (p.Phe423Leu)
c.1231T>C (p.Phe411Leu)
c.1228T>C (p.Phe410Leu)
c.1135T>C (p.Phe379Leu)
c.1090T>C (p.Phe364Leu)
2g.127048546A>TCA348373363BIN1c.1345T>A (p.Phe449Ile)
c.1762T>A (p.Phe588Ile)
c.1474T>A (p.Phe492Ile)
c.1537T>A (p.Phe513Ile)
c.1210T>A (p.Phe404Ile)
c.1501T>A (p.Phe501Ile)
c.1633T>A (p.Phe545Ile)
c.1255T>A (p.Phe419Ile)
c.1429T>A (p.Phe477Ile)
c.1408T>A (p.Phe470Ile)
c.1300T>A (p.Phe434Ile)
n.4628T>A
c.1807T>A (p.Phe603Ile)
c.1714T>A (p.Phe572Ile)
c.1669T>A (p.Phe557Ile)
c.1642T>A (p.Phe548Ile)
c.1393T>A (p.Phe465Ile)
c.1138T>A (p.Phe380Ile)
c.1675T>A (p.Phe559Ile)
c.1597T>A (p.Phe533Ile)
c.1567T>A (p.Phe523Ile)
c.1546T>A (p.Phe516Ile)
c.1522T>A (p.Phe508Ile)
c.1477T>A (p.Phe493Ile)
c.1438T>A (p.Phe480Ile)
c.1348T>A (p.Phe450Ile)
c.1303T>A (p.Phe435Ile)
c.1726T>A (p.Phe576Ile)
c.1681T>A (p.Phe561Ile)
c.1735T>A (p.Phe579Ile)
c.1432T>A (p.Phe478Ile)
c.1339T>A (p.Phe447Ile)
c.1336T>A (p.Phe446Ile)
c.1267T>A (p.Phe423Ile)
c.1231T>A (p.Phe411Ile)
c.1228T>A (p.Phe410Ile)
c.1135T>A (p.Phe379Ile)
c.1090T>A (p.Phe364Ile)
2g.127048547G>ACA428593629BIN1c.1344C>T (p.Asn448=)
c.1761C>T (p.Asn587=)
c.1473C>T (p.Asn491=)
c.1536C>T (p.Asn512=)
c.1209C>T (p.Asn403=)
c.1500C>T (p.Asn500=)
c.1632C>T (p.Asn544=)
c.1254C>T (p.Asn418=)
c.1428C>T (p.Asn476=)
c.1407C>T (p.Asn469=)
c.1299C>T (p.Asn433=)
n.4627C>T
c.1806C>T (p.Asn602=)
c.1713C>T (p.Asn571=)
c.1668C>T (p.Asn556=)
c.1641C>T (p.Asn547=)
c.1392C>T (p.Asn464=)
c.1137C>T (p.Asn379=)
c.1674C>T (p.Asn558=)
c.1596C>T (p.Asn532=)
c.1566C>T (p.Asn522=)
c.1545C>T (p.Asn515=)
c.1521C>T (p.Asn507=)
c.1476C>T (p.Asn492=)
c.1437C>T (p.Asn479=)
c.1347C>T (p.Asn449=)
c.1302C>T (p.Asn434=)
c.1725C>T (p.Asn575=)
c.1680C>T (p.Asn560=)
c.1734C>T (p.Asn578=)
c.1431C>T (p.Asn477=)
c.1338C>T (p.Asn446=)
c.1335C>T (p.Asn445=)
c.1266C>T (p.Asn422=)
c.1230C>T (p.Asn410=)
c.1227C>T (p.Asn409=)
c.1134C>T (p.Asn378=)
c.1089C>T (p.Asn363=)
2g.127048547G>CCA348373365BIN1c.1344C>G (p.Asn448Lys)
c.1761C>G (p.Asn587Lys)
c.1473C>G (p.Asn491Lys)
c.1536C>G (p.Asn512Lys)
c.1209C>G (p.Asn403Lys)
c.1500C>G (p.Asn500Lys)
c.1632C>G (p.Asn544Lys)
c.1254C>G (p.Asn418Lys)
c.1428C>G (p.Asn476Lys)
c.1407C>G (p.Asn469Lys)
c.1299C>G (p.Asn433Lys)
n.4627C>G
c.1806C>G (p.Asn602Lys)
c.1713C>G (p.Asn571Lys)
c.1668C>G (p.Asn556Lys)
c.1641C>G (p.Asn547Lys)
c.1392C>G (p.Asn464Lys)
c.1137C>G (p.Asn379Lys)
c.1674C>G (p.Asn558Lys)
c.1596C>G (p.Asn532Lys)
c.1566C>G (p.Asn522Lys)
c.1545C>G (p.Asn515Lys)
c.1521C>G (p.Asn507Lys)
c.1476C>G (p.Asn492Lys)
c.1437C>G (p.Asn479Lys)
c.1347C>G (p.Asn449Lys)
c.1302C>G (p.Asn434Lys)
c.1725C>G (p.Asn575Lys)
c.1680C>G (p.Asn560Lys)
c.1734C>G (p.Asn578Lys)
c.1431C>G (p.Asn477Lys)
c.1338C>G (p.Asn446Lys)
c.1335C>G (p.Asn445Lys)
c.1266C>G (p.Asn422Lys)
c.1230C>G (p.Asn410Lys)
c.1227C>G (p.Asn409Lys)
c.1134C>G (p.Asn378Lys)
c.1089C>G (p.Asn363Lys)
2g.127048547G>TCA348373369BIN1c.1344C>A (p.Asn448Lys)
c.1761C>A (p.Asn587Lys)
c.1473C>A (p.Asn491Lys)
c.1536C>A (p.Asn512Lys)
c.1209C>A (p.Asn403Lys)
c.1500C>A (p.Asn500Lys)
c.1632C>A (p.Asn544Lys)
c.1254C>A (p.Asn418Lys)
c.1428C>A (p.Asn476Lys)
c.1407C>A (p.Asn469Lys)
c.1299C>A (p.Asn433Lys)
n.4627C>A
c.1806C>A (p.Asn602Lys)
c.1713C>A (p.Asn571Lys)
c.1668C>A (p.Asn556Lys)
c.1641C>A (p.Asn547Lys)
c.1392C>A (p.Asn464Lys)
c.1137C>A (p.Asn379Lys)
c.1674C>A (p.Asn558Lys)
c.1596C>A (p.Asn532Lys)
c.1566C>A (p.Asn522Lys)
c.1545C>A (p.Asn515Lys)
c.1521C>A (p.Asn507Lys)
c.1476C>A (p.Asn492Lys)
c.1437C>A (p.Asn479Lys)
c.1347C>A (p.Asn449Lys)
c.1302C>A (p.Asn434Lys)
c.1725C>A (p.Asn575Lys)
c.1680C>A (p.Asn560Lys)
c.1734C>A (p.Asn578Lys)
c.1431C>A (p.Asn477Lys)
c.1338C>A (p.Asn446Lys)
c.1335C>A (p.Asn445Lys)
c.1266C>A (p.Asn422Lys)
c.1230C>A (p.Asn410Lys)
c.1227C>A (p.Asn409Lys)
c.1134C>A (p.Asn378Lys)
c.1089C>A (p.Asn363Lys)
2g.127048548T>ACA348373371BIN1c.1343A>T (p.Asn448Ile)
c.1760A>T (p.Asn587Ile)
c.1472A>T (p.Asn491Ile)
c.1535A>T (p.Asn512Ile)
c.1208A>T (p.Asn403Ile)
c.1499A>T (p.Asn500Ile)
c.1631A>T (p.Asn544Ile)
c.1253A>T (p.Asn418Ile)
c.1427A>T (p.Asn476Ile)
c.1406A>T (p.Asn469Ile)
c.1298A>T (p.Asn433Ile)
n.4626A>T
c.1805A>T (p.Asn602Ile)
c.1712A>T (p.Asn571Ile)
c.1667A>T (p.Asn556Ile)
c.1640A>T (p.Asn547Ile)
c.1391A>T (p.Asn464Ile)
c.1136A>T (p.Asn379Ile)
c.1673A>T (p.Asn558Ile)
c.1595A>T (p.Asn532Ile)
c.1565A>T (p.Asn522Ile)
c.1544A>T (p.Asn515Ile)
c.1520A>T (p.Asn507Ile)
c.1475A>T (p.Asn492Ile)
c.1436A>T (p.Asn479Ile)
c.1346A>T (p.Asn449Ile)
c.1301A>T (p.Asn434Ile)
c.1724A>T (p.Asn575Ile)
c.1679A>T (p.Asn560Ile)
c.1733A>T (p.Asn578Ile)
c.1430A>T (p.Asn477Ile)
c.1337A>T (p.Asn446Ile)
c.1334A>T (p.Asn445Ile)
c.1265A>T (p.Asn422Ile)
c.1229A>T (p.Asn410Ile)
c.1226A>T (p.Asn409Ile)
c.1133A>T (p.Asn378Ile)
c.1088A>T (p.Asn363Ile)
2g.127048548T>CCA348373377BIN1c.1343A>G (p.Asn448Ser)
c.1760A>G (p.Asn587Ser)
c.1472A>G (p.Asn491Ser)
c.1535A>G (p.Asn512Ser)
c.1208A>G (p.Asn403Ser)
c.1499A>G (p.Asn500Ser)
c.1631A>G (p.Asn544Ser)
c.1253A>G (p.Asn418Ser)
c.1427A>G (p.Asn476Ser)
c.1406A>G (p.Asn469Ser)
c.1298A>G (p.Asn433Ser)
n.4626A>G
c.1805A>G (p.Asn602Ser)
c.1712A>G (p.Asn571Ser)
c.1667A>G (p.Asn556Ser)
c.1640A>G (p.Asn547Ser)
c.1391A>G (p.Asn464Ser)
c.1136A>G (p.Asn379Ser)
c.1673A>G (p.Asn558Ser)
c.1595A>G (p.Asn532Ser)
c.1565A>G (p.Asn522Ser)
c.1544A>G (p.Asn515Ser)
c.1520A>G (p.Asn507Ser)
c.1475A>G (p.Asn492Ser)
c.1436A>G (p.Asn479Ser)
c.1346A>G (p.Asn449Ser)
c.1301A>G (p.Asn434Ser)
c.1724A>G (p.Asn575Ser)
c.1679A>G (p.Asn560Ser)
c.1733A>G (p.Asn578Ser)
c.1430A>G (p.Asn477Ser)
c.1337A>G (p.Asn446Ser)
c.1334A>G (p.Asn445Ser)
c.1265A>G (p.Asn422Ser)
c.1229A>G (p.Asn410Ser)
c.1226A>G (p.Asn409Ser)
c.1133A>G (p.Asn378Ser)
c.1088A>G (p.Asn363Ser)
 gnomAD v4
2g.127048548T>GCA348373378BIN1c.1343A>C (p.Asn448Thr)
c.1760A>C (p.Asn587Thr)
c.1472A>C (p.Asn491Thr)
c.1535A>C (p.Asn512Thr)
c.1208A>C (p.Asn403Thr)
c.1499A>C (p.Asn500Thr)
c.1631A>C (p.Asn544Thr)
c.1253A>C (p.Asn418Thr)
c.1427A>C (p.Asn476Thr)
c.1406A>C (p.Asn469Thr)
c.1298A>C (p.Asn433Thr)
n.4626A>C
c.1805A>C (p.Asn602Thr)
c.1712A>C (p.Asn571Thr)
c.1667A>C (p.Asn556Thr)
c.1640A>C (p.Asn547Thr)
c.1391A>C (p.Asn464Thr)
c.1136A>C (p.Asn379Thr)
c.1673A>C (p.Asn558Thr)
c.1595A>C (p.Asn532Thr)
c.1565A>C (p.Asn522Thr)
c.1544A>C (p.Asn515Thr)
c.1520A>C (p.Asn507Thr)
c.1475A>C (p.Asn492Thr)
c.1436A>C (p.Asn479Thr)
c.1346A>C (p.Asn449Thr)
c.1301A>C (p.Asn434Thr)
c.1724A>C (p.Asn575Thr)
c.1679A>C (p.Asn560Thr)
c.1733A>C (p.Asn578Thr)
c.1430A>C (p.Asn477Thr)
c.1337A>C (p.Asn446Thr)
c.1334A>C (p.Asn445Thr)
c.1265A>C (p.Asn422Thr)
c.1229A>C (p.Asn410Thr)
c.1226A>C (p.Asn409Thr)
c.1133A>C (p.Asn378Thr)
c.1088A>C (p.Asn363Thr)
2g.127048549T>ACA348373380BIN1c.1342A>T (p.Asn448Tyr)
c.1759A>T (p.Asn587Tyr)
c.1471A>T (p.Asn491Tyr)
c.1534A>T (p.Asn512Tyr)
c.1207A>T (p.Asn403Tyr)
c.1498A>T (p.Asn500Tyr)
c.1630A>T (p.Asn544Tyr)
c.1252A>T (p.Asn418Tyr)
c.1426A>T (p.Asn476Tyr)
c.1405A>T (p.Asn469Tyr)
c.1297A>T (p.Asn433Tyr)
n.4625A>T
c.1804A>T (p.Asn602Tyr)
c.1711A>T (p.Asn571Tyr)
c.1666A>T (p.Asn556Tyr)
c.1639A>T (p.Asn547Tyr)
c.1390A>T (p.Asn464Tyr)
c.1135A>T (p.Asn379Tyr)
c.1672A>T (p.Asn558Tyr)
c.1594A>T (p.Asn532Tyr)
c.1564A>T (p.Asn522Tyr)
c.1543A>T (p.Asn515Tyr)
c.1519A>T (p.Asn507Tyr)
c.1474A>T (p.Asn492Tyr)
c.1435A>T (p.Asn479Tyr)
c.1345A>T (p.Asn449Tyr)
c.1300A>T (p.Asn434Tyr)
c.1723A>T (p.Asn575Tyr)
c.1678A>T (p.Asn560Tyr)
c.1732A>T (p.Asn578Tyr)
c.1429A>T (p.Asn477Tyr)
c.1336A>T (p.Asn446Tyr)
c.1333A>T (p.Asn445Tyr)
c.1264A>T (p.Asn422Tyr)
c.1228A>T (p.Asn410Tyr)
c.1225A>T (p.Asn409Tyr)
c.1132A>T (p.Asn378Tyr)
c.1087A>T (p.Asn363Tyr)
2g.127048549T>CCA348373383BIN1c.1342A>G (p.Asn448Asp)
c.1759A>G (p.Asn587Asp)
c.1471A>G (p.Asn491Asp)
c.1534A>G (p.Asn512Asp)
c.1207A>G (p.Asn403Asp)
c.1498A>G (p.Asn500Asp)
c.1630A>G (p.Asn544Asp)
c.1252A>G (p.Asn418Asp)
c.1426A>G (p.Asn476Asp)
c.1405A>G (p.Asn469Asp)
c.1297A>G (p.Asn433Asp)
n.4625A>G
c.1804A>G (p.Asn602Asp)
c.1711A>G (p.Asn571Asp)
c.1666A>G (p.Asn556Asp)
c.1639A>G (p.Asn547Asp)
c.1390A>G (p.Asn464Asp)
c.1135A>G (p.Asn379Asp)
c.1672A>G (p.Asn558Asp)
c.1594A>G (p.Asn532Asp)
c.1564A>G (p.Asn522Asp)
c.1543A>G (p.Asn515Asp)
c.1519A>G (p.Asn507Asp)
c.1474A>G (p.Asn492Asp)
c.1435A>G (p.Asn479Asp)
c.1345A>G (p.Asn449Asp)
c.1300A>G (p.Asn434Asp)
c.1723A>G (p.Asn575Asp)
c.1678A>G (p.Asn560Asp)
c.1732A>G (p.Asn578Asp)
c.1429A>G (p.Asn477Asp)
c.1336A>G (p.Asn446Asp)
c.1333A>G (p.Asn445Asp)
c.1264A>G (p.Asn422Asp)
c.1228A>G (p.Asn410Asp)
c.1225A>G (p.Asn409Asp)
c.1132A>G (p.Asn378Asp)
c.1087A>G (p.Asn363Asp)
 dbSNP
2g.127048549T>GCA348373387BIN1c.1342A>C (p.Asn448His)
c.1759A>C (p.Asn587His)
c.1471A>C (p.Asn491His)
c.1534A>C (p.Asn512His)
c.1207A>C (p.Asn403His)
c.1498A>C (p.Asn500His)
c.1630A>C (p.Asn544His)
c.1252A>C (p.Asn418His)
c.1426A>C (p.Asn476His)
c.1405A>C (p.Asn469His)
c.1297A>C (p.Asn433His)
n.4625A>C
c.1804A>C (p.Asn602His)
c.1711A>C (p.Asn571His)
c.1666A>C (p.Asn556His)
c.1639A>C (p.Asn547His)
c.1390A>C (p.Asn464His)
c.1135A>C (p.Asn379His)
c.1672A>C (p.Asn558His)
c.1594A>C (p.Asn532His)
c.1564A>C (p.Asn522His)
c.1543A>C (p.Asn515His)
c.1519A>C (p.Asn507His)
c.1474A>C (p.Asn492His)
c.1435A>C (p.Asn479His)
c.1345A>C (p.Asn449His)
c.1300A>C (p.Asn434His)
c.1723A>C (p.Asn575His)
c.1678A>C (p.Asn560His)
c.1732A>C (p.Asn578His)
c.1429A>C (p.Asn477His)
c.1336A>C (p.Asn446His)
c.1333A>C (p.Asn445His)
c.1264A>C (p.Asn422His)
c.1228A>C (p.Asn410His)
c.1225A>C (p.Asn409His)
c.1132A>C (p.Asn378His)
c.1087A>C (p.Asn363His)
2g.127048549T=CA1286710708BIN1c.1342A= (p.Asn448=)
c.1759A= (p.Asn587=)
c.1471A= (p.Asn491=)
c.1534A= (p.Asn512=)
c.1207A= (p.Asn403=)
c.1498A= (p.Asn500=)
c.1630A= (p.Asn544=)
c.1252A= (p.Asn418=)
c.1426A= (p.Asn476=)
c.1405A= (p.Asn469=)
c.1297A= (p.Asn433=)
n.4625A=
c.1804A= (p.Asn602=)
c.1711A= (p.Asn571=)
c.1666A= (p.Asn556=)
c.1639A= (p.Asn547=)
c.1390A= (p.Asn464=)
c.1135A= (p.Asn379=)
c.1672A= (p.Asn558=)
c.1594A= (p.Asn532=)
c.1564A= (p.Asn522=)
c.1543A= (p.Asn515=)
c.1519A= (p.Asn507=)
c.1474A= (p.Asn492=)
c.1435A= (p.Asn479=)
c.1345A= (p.Asn449=)
c.1300A= (p.Asn434=)
c.1723A= (p.Asn575=)
c.1678A= (p.Asn560=)
c.1732A= (p.Asn578=)
c.1429A= (p.Asn477=)
c.1336A= (p.Asn446=)
c.1333A= (p.Asn445=)
c.1264A= (p.Asn422=)
c.1228A= (p.Asn410=)
c.1225A= (p.Asn409=)
c.1132A= (p.Asn378=)
c.1087A= (p.Asn363=)
2g.127048550C>ACA348373389BIN1c.1341G>T (p.Glu447Asp)
c.1758G>T (p.Glu586Asp)
c.1470G>T (p.Glu490Asp)
c.1533G>T (p.Glu511Asp)
c.1206G>T (p.Glu402Asp)
c.1497G>T (p.Glu499Asp)
c.1629G>T (p.Glu543Asp)
c.1251G>T (p.Glu417Asp)
c.1425G>T (p.Glu475Asp)
c.1404G>T (p.Glu468Asp)
c.1296G>T (p.Glu432Asp)
n.4624G>T
c.1803G>T (p.Glu601Asp)
c.1710G>T (p.Glu570Asp)
c.1665G>T (p.Glu555Asp)
c.1638G>T (p.Glu546Asp)
c.1389G>T (p.Glu463Asp)
c.1134G>T (p.Glu378Asp)
c.1671G>T (p.Glu557Asp)
c.1593G>T (p.Glu531Asp)
c.1563G>T (p.Glu521Asp)
c.1542G>T (p.Glu514Asp)
c.1518G>T (p.Glu506Asp)
c.1473G>T (p.Glu491Asp)
c.1434G>T (p.Glu478Asp)
c.1344G>T (p.Glu448Asp)
c.1299G>T (p.Glu433Asp)
c.1722G>T (p.Glu574Asp)
c.1677G>T (p.Glu559Asp)
c.1731G>T (p.Glu577Asp)
c.1428G>T (p.Glu476Asp)
c.1335G>T (p.Glu445Asp)
c.1332G>T (p.Glu444Asp)
c.1263G>T (p.Glu421Asp)
c.1227G>T (p.Glu409Asp)
c.1224G>T (p.Glu408Asp)
c.1131G>T (p.Glu377Asp)
c.1086G>T (p.Glu362Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127048550C=CA1286710709BIN1c.1341G= (p.Glu447=)
c.1758G= (p.Glu586=)
c.1470G= (p.Glu490=)
c.1533G= (p.Glu511=)
c.1206G= (p.Glu402=)
c.1497G= (p.Glu499=)
c.1629G= (p.Glu543=)
c.1251G= (p.Glu417=)
c.1425G= (p.Glu475=)
c.1404G= (p.Glu468=)
c.1296G= (p.Glu432=)
n.4624G=
c.1803G= (p.Glu601=)
c.1710G= (p.Glu570=)
c.1665G= (p.Glu555=)
c.1638G= (p.Glu546=)
c.1389G= (p.Glu463=)
c.1134G= (p.Glu378=)
c.1671G= (p.Glu557=)
c.1593G= (p.Glu531=)
c.1563G= (p.Glu521=)
c.1542G= (p.Glu514=)
c.1518G= (p.Glu506=)
c.1473G= (p.Glu491=)
c.1434G= (p.Glu478=)
c.1344G= (p.Glu448=)
c.1299G= (p.Glu433=)
c.1722G= (p.Glu574=)
c.1677G= (p.Glu559=)
c.1731G= (p.Glu577=)
c.1428G= (p.Glu476=)
c.1335G= (p.Glu445=)
c.1332G= (p.Glu444=)
c.1263G= (p.Glu421=)
c.1227G= (p.Glu409=)
c.1224G= (p.Glu408=)
c.1131G= (p.Glu377=)
c.1086G= (p.Glu362=)
2g.127048550C>GCA348373388BIN1c.1341G>C (p.Glu447Asp)
c.1758G>C (p.Glu586Asp)
c.1470G>C (p.Glu490Asp)
c.1533G>C (p.Glu511Asp)
c.1206G>C (p.Glu402Asp)
c.1497G>C (p.Glu499Asp)
c.1629G>C (p.Glu543Asp)
c.1251G>C (p.Glu417Asp)
c.1425G>C (p.Glu475Asp)
c.1404G>C (p.Glu468Asp)
c.1296G>C (p.Glu432Asp)
n.4624G>C
c.1803G>C (p.Glu601Asp)
c.1710G>C (p.Glu570Asp)
c.1665G>C (p.Glu555Asp)
c.1638G>C (p.Glu546Asp)
c.1389G>C (p.Glu463Asp)
c.1134G>C (p.Glu378Asp)
c.1671G>C (p.Glu557Asp)
c.1593G>C (p.Glu531Asp)
c.1563G>C (p.Glu521Asp)
c.1542G>C (p.Glu514Asp)
c.1518G>C (p.Glu506Asp)
c.1473G>C (p.Glu491Asp)
c.1434G>C (p.Glu478Asp)
c.1344G>C (p.Glu448Asp)
c.1299G>C (p.Glu433Asp)
c.1722G>C (p.Glu574Asp)
c.1677G>C (p.Glu559Asp)
c.1731G>C (p.Glu577Asp)
c.1428G>C (p.Glu476Asp)
c.1335G>C (p.Glu445Asp)
c.1332G>C (p.Glu444Asp)
c.1263G>C (p.Glu421Asp)
c.1227G>C (p.Glu409Asp)
c.1224G>C (p.Glu408Asp)
c.1131G>C (p.Glu377Asp)
c.1086G>C (p.Glu362Asp)
2g.127048550C>TCA428593631BIN1c.1341G>A (p.Glu447=)
c.1758G>A (p.Glu586=)
c.1470G>A (p.Glu490=)
c.1533G>A (p.Glu511=)
c.1206G>A (p.Glu402=)
c.1497G>A (p.Glu499=)
c.1629G>A (p.Glu543=)
c.1251G>A (p.Glu417=)
c.1425G>A (p.Glu475=)
c.1404G>A (p.Glu468=)
c.1296G>A (p.Glu432=)
n.4624G>A
c.1803G>A (p.Glu601=)
c.1710G>A (p.Glu570=)
c.1665G>A (p.Glu555=)
c.1638G>A (p.Glu546=)
c.1389G>A (p.Glu463=)
c.1134G>A (p.Glu378=)
c.1671G>A (p.Glu557=)
c.1593G>A (p.Glu531=)
c.1563G>A (p.Glu521=)
c.1542G>A (p.Glu514=)
c.1518G>A (p.Glu506=)
c.1473G>A (p.Glu491=)
c.1434G>A (p.Glu478=)
c.1344G>A (p.Glu448=)
c.1299G>A (p.Glu433=)
c.1722G>A (p.Glu574=)
c.1677G>A (p.Glu559=)
c.1731G>A (p.Glu577=)
c.1428G>A (p.Glu476=)
c.1335G>A (p.Glu445=)
c.1332G>A (p.Glu444=)
c.1263G>A (p.Glu421=)
c.1227G>A (p.Glu409=)
c.1224G>A (p.Glu408=)
c.1131G>A (p.Glu377=)
c.1086G>A (p.Glu362=)
2g.127048551T>ACA348373391BIN1c.1340A>T (p.Glu447Val)
c.1757A>T (p.Glu586Val)
c.1469A>T (p.Glu490Val)
c.1532A>T (p.Glu511Val)
c.1205A>T (p.Glu402Val)
c.1496A>T (p.Glu499Val)
c.1628A>T (p.Glu543Val)
c.1250A>T (p.Glu417Val)
c.1424A>T (p.Glu475Val)
c.1403A>T (p.Glu468Val)
c.1295A>T (p.Glu432Val)
n.4623A>T
c.1802A>T (p.Glu601Val)
c.1709A>T (p.Glu570Val)
c.1664A>T (p.Glu555Val)
c.1637A>T (p.Glu546Val)
c.1388A>T (p.Glu463Val)
c.1133A>T (p.Glu378Val)
c.1670A>T (p.Glu557Val)
c.1592A>T (p.Glu531Val)
c.1562A>T (p.Glu521Val)
c.1541A>T (p.Glu514Val)
c.1517A>T (p.Glu506Val)
c.1472A>T (p.Glu491Val)
c.1433A>T (p.Glu478Val)
c.1343A>T (p.Glu448Val)
c.1298A>T (p.Glu433Val)
c.1721A>T (p.Glu574Val)
c.1676A>T (p.Glu559Val)
c.1730A>T (p.Glu577Val)
c.1427A>T (p.Glu476Val)
c.1334A>T (p.Glu445Val)
c.1331A>T (p.Glu444Val)
c.1262A>T (p.Glu421Val)
c.1226A>T (p.Glu409Val)
c.1223A>T (p.Glu408Val)
c.1130A>T (p.Glu377Val)
c.1085A>T (p.Glu362Val)
2g.127048551T>CCA348373395BIN1c.1340A>G (p.Glu447Gly)
c.1757A>G (p.Glu586Gly)
c.1469A>G (p.Glu490Gly)
c.1532A>G (p.Glu511Gly)
c.1205A>G (p.Glu402Gly)
c.1496A>G (p.Glu499Gly)
c.1628A>G (p.Glu543Gly)
c.1250A>G (p.Glu417Gly)
c.1424A>G (p.Glu475Gly)
c.1403A>G (p.Glu468Gly)
c.1295A>G (p.Glu432Gly)
n.4623A>G
c.1802A>G (p.Glu601Gly)
c.1709A>G (p.Glu570Gly)
c.1664A>G (p.Glu555Gly)
c.1637A>G (p.Glu546Gly)
c.1388A>G (p.Glu463Gly)
c.1133A>G (p.Glu378Gly)
c.1670A>G (p.Glu557Gly)
c.1592A>G (p.Glu531Gly)
c.1562A>G (p.Glu521Gly)
c.1541A>G (p.Glu514Gly)
c.1517A>G (p.Glu506Gly)
c.1472A>G (p.Glu491Gly)
c.1433A>G (p.Glu478Gly)
c.1343A>G (p.Glu448Gly)
c.1298A>G (p.Glu433Gly)
c.1721A>G (p.Glu574Gly)
c.1676A>G (p.Glu559Gly)
c.1730A>G (p.Glu577Gly)
c.1427A>G (p.Glu476Gly)
c.1334A>G (p.Glu445Gly)
c.1331A>G (p.Glu444Gly)
c.1262A>G (p.Glu421Gly)
c.1226A>G (p.Glu409Gly)
c.1223A>G (p.Glu408Gly)
c.1130A>G (p.Glu377Gly)
c.1085A>G (p.Glu362Gly)
2g.127048551T>GCA348373396BIN1c.1340A>C (p.Glu447Ala)
c.1757A>C (p.Glu586Ala)
c.1469A>C (p.Glu490Ala)
c.1532A>C (p.Glu511Ala)
c.1205A>C (p.Glu402Ala)
c.1496A>C (p.Glu499Ala)
c.1628A>C (p.Glu543Ala)
c.1250A>C (p.Glu417Ala)
c.1424A>C (p.Glu475Ala)
c.1403A>C (p.Glu468Ala)
c.1295A>C (p.Glu432Ala)
n.4623A>C
c.1802A>C (p.Glu601Ala)
c.1709A>C (p.Glu570Ala)
c.1664A>C (p.Glu555Ala)
c.1637A>C (p.Glu546Ala)
c.1388A>C (p.Glu463Ala)
c.1133A>C (p.Glu378Ala)
c.1670A>C (p.Glu557Ala)
c.1592A>C (p.Glu531Ala)
c.1562A>C (p.Glu521Ala)
c.1541A>C (p.Glu514Ala)
c.1517A>C (p.Glu506Ala)
c.1472A>C (p.Glu491Ala)
c.1433A>C (p.Glu478Ala)
c.1343A>C (p.Glu448Ala)
c.1298A>C (p.Glu433Ala)
c.1721A>C (p.Glu574Ala)
c.1676A>C (p.Glu559Ala)
c.1730A>C (p.Glu577Ala)
c.1427A>C (p.Glu476Ala)
c.1334A>C (p.Glu445Ala)
c.1331A>C (p.Glu444Ala)
c.1262A>C (p.Glu421Ala)
c.1226A>C (p.Glu409Ala)
c.1223A>C (p.Glu408Ala)
c.1130A>C (p.Glu377Ala)
c.1085A>C (p.Glu362Ala)
2g.127048552C>ACA348373397BIN1c.1339G>T (p.Glu447Ter)
c.1756G>T (p.Glu586Ter)
c.1468G>T (p.Glu490Ter)
c.1531G>T (p.Glu511Ter)
c.1204G>T (p.Glu402Ter)
c.1495G>T (p.Glu499Ter)
c.1627G>T (p.Glu543Ter)
c.1249G>T (p.Glu417Ter)
c.1423G>T (p.Glu475Ter)
c.1402G>T (p.Glu468Ter)
c.1294G>T (p.Glu432Ter)
n.4622G>T
c.1801G>T (p.Glu601Ter)
c.1708G>T (p.Glu570Ter)
c.1663G>T (p.Glu555Ter)
c.1636G>T (p.Glu546Ter)
c.1387G>T (p.Glu463Ter)
c.1132G>T (p.Glu378Ter)
c.1669G>T (p.Glu557Ter)
c.1591G>T (p.Glu531Ter)
c.1561G>T (p.Glu521Ter)
c.1540G>T (p.Glu514Ter)
c.1516G>T (p.Glu506Ter)
c.1471G>T (p.Glu491Ter)
c.1432G>T (p.Glu478Ter)
c.1342G>T (p.Glu448Ter)
c.1297G>T (p.Glu433Ter)
c.1720G>T (p.Glu574Ter)
c.1675G>T (p.Glu559Ter)
c.1729G>T (p.Glu577Ter)
c.1426G>T (p.Glu476Ter)
c.1333G>T (p.Glu445Ter)
c.1330G>T (p.Glu444Ter)
c.1261G>T (p.Glu421Ter)
c.1225G>T (p.Glu409Ter)
c.1222G>T (p.Glu408Ter)
c.1129G>T (p.Glu377Ter)
c.1084G>T (p.Glu362Ter)
 gnomAD v4
2g.127048552C=CA1286710710BIN1c.1339G= (p.Glu447=)
c.1756G= (p.Glu586=)
c.1468G= (p.Glu490=)
c.1531G= (p.Glu511=)
c.1204G= (p.Glu402=)
c.1495G= (p.Glu499=)
c.1627G= (p.Glu543=)
c.1249G= (p.Glu417=)
c.1423G= (p.Glu475=)
c.1402G= (p.Glu468=)
c.1294G= (p.Glu432=)
n.4622G=
c.1801G= (p.Glu601=)
c.1708G= (p.Glu570=)
c.1663G= (p.Glu555=)
c.1636G= (p.Glu546=)
c.1387G= (p.Glu463=)
c.1132G= (p.Glu378=)
c.1669G= (p.Glu557=)
c.1591G= (p.Glu531=)
c.1561G= (p.Glu521=)
c.1540G= (p.Glu514=)
c.1516G= (p.Glu506=)
c.1471G= (p.Glu491=)
c.1432G= (p.Glu478=)
c.1342G= (p.Glu448=)
c.1297G= (p.Glu433=)
c.1720G= (p.Glu574=)
c.1675G= (p.Glu559=)
c.1729G= (p.Glu577=)
c.1426G= (p.Glu476=)
c.1333G= (p.Glu445=)
c.1330G= (p.Glu444=)
c.1261G= (p.Glu421=)
c.1225G= (p.Glu409=)
c.1222G= (p.Glu408=)
c.1129G= (p.Glu377=)
c.1084G= (p.Glu362=)
2g.127048552C>GCA348373398BIN1c.1339G>C (p.Glu447Gln)
c.1756G>C (p.Glu586Gln)
c.1468G>C (p.Glu490Gln)
c.1531G>C (p.Glu511Gln)
c.1204G>C (p.Glu402Gln)
c.1495G>C (p.Glu499Gln)
c.1627G>C (p.Glu543Gln)
c.1249G>C (p.Glu417Gln)
c.1423G>C (p.Glu475Gln)
c.1402G>C (p.Glu468Gln)
c.1294G>C (p.Glu432Gln)
n.4622G>C
c.1801G>C (p.Glu601Gln)
c.1708G>C (p.Glu570Gln)
c.1663G>C (p.Glu555Gln)
c.1636G>C (p.Glu546Gln)
c.1387G>C (p.Glu463Gln)
c.1132G>C (p.Glu378Gln)
c.1669G>C (p.Glu557Gln)
c.1591G>C (p.Glu531Gln)
c.1561G>C (p.Glu521Gln)
c.1540G>C (p.Glu514Gln)
c.1516G>C (p.Glu506Gln)
c.1471G>C (p.Glu491Gln)
c.1432G>C (p.Glu478Gln)
c.1342G>C (p.Glu448Gln)
c.1297G>C (p.Glu433Gln)
c.1720G>C (p.Glu574Gln)
c.1675G>C (p.Glu559Gln)
c.1729G>C (p.Glu577Gln)
c.1426G>C (p.Glu476Gln)
c.1333G>C (p.Glu445Gln)
c.1330G>C (p.Glu444Gln)
c.1261G>C (p.Glu421Gln)
c.1225G>C (p.Glu409Gln)
c.1222G>C (p.Glu408Gln)
c.1129G>C (p.Glu377Gln)
c.1084G>C (p.Glu362Gln)
2g.127048552C>TCA55334933BIN1c.1339G>A (p.Glu447Lys)
c.1756G>A (p.Glu586Lys)
c.1468G>A (p.Glu490Lys)
c.1531G>A (p.Glu511Lys)
c.1204G>A (p.Glu402Lys)
c.1495G>A (p.Glu499Lys)
c.1627G>A (p.Glu543Lys)
c.1249G>A (p.Glu417Lys)
c.1423G>A (p.Glu475Lys)
c.1402G>A (p.Glu468Lys)
c.1294G>A (p.Glu432Lys)
n.4622G>A
c.1801G>A (p.Glu601Lys)
c.1708G>A (p.Glu570Lys)
c.1663G>A (p.Glu555Lys)
c.1636G>A (p.Glu546Lys)
c.1387G>A (p.Glu463Lys)
c.1132G>A (p.Glu378Lys)
c.1669G>A (p.Glu557Lys)
c.1591G>A (p.Glu531Lys)
c.1561G>A (p.Glu521Lys)
c.1540G>A (p.Glu514Lys)
c.1516G>A (p.Glu506Lys)
c.1471G>A (p.Glu491Lys)
c.1432G>A (p.Glu478Lys)
c.1342G>A (p.Glu448Lys)
c.1297G>A (p.Glu433Lys)
c.1720G>A (p.Glu574Lys)
c.1675G>A (p.Glu559Lys)
c.1729G>A (p.Glu577Lys)
c.1426G>A (p.Glu476Lys)
c.1333G>A (p.Glu445Lys)
c.1330G>A (p.Glu444Lys)
c.1261G>A (p.Glu421Lys)
c.1225G>A (p.Glu409Lys)
c.1222G>A (p.Glu408Lys)
c.1129G>A (p.Glu377Lys)
c.1084G>A (p.Glu362Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127048553G>ACA55334939BIN1c.1338C>T (p.Pro446=)
c.1755C>T (p.Pro585=)
c.1467C>T (p.Pro489=)
c.1530C>T (p.Pro510=)
c.1203C>T (p.Pro401=)
c.1494C>T (p.Pro498=)
c.1626C>T (p.Pro542=)
c.1248C>T (p.Pro416=)
c.1422C>T (p.Pro474=)
c.1401C>T (p.Pro467=)
c.1293C>T (p.Pro431=)
n.4621C>T
c.1800C>T (p.Pro600=)
c.1707C>T (p.Pro569=)
c.1662C>T (p.Pro554=)
c.1635C>T (p.Pro545=)
c.1386C>T (p.Pro462=)
c.1131C>T (p.Pro377=)
c.1668C>T (p.Pro556=)
c.1590C>T (p.Pro530=)
c.1560C>T (p.Pro520=)
c.1539C>T (p.Pro513=)
c.1515C>T (p.Pro505=)
c.1470C>T (p.Pro490=)
c.1431C>T (p.Pro477=)
c.1341C>T (p.Pro447=)
c.1296C>T (p.Pro432=)
c.1719C>T (p.Pro573=)
c.1674C>T (p.Pro558=)
c.1728C>T (p.Pro576=)
c.1425C>T (p.Pro475=)
c.1332C>T (p.Pro444=)
c.1329C>T (p.Pro443=)
c.1260C>T (p.Pro420=)
c.1224C>T (p.Pro408=)
c.1221C>T (p.Pro407=)
c.1128C>T (p.Pro376=)
c.1083C>T (p.Pro361=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127048553G>CCA428593635BIN1c.1338C>G (p.Pro446=)
c.1755C>G (p.Pro585=)
c.1467C>G (p.Pro489=)
c.1530C>G (p.Pro510=)
c.1203C>G (p.Pro401=)
c.1494C>G (p.Pro498=)
c.1626C>G (p.Pro542=)
c.1248C>G (p.Pro416=)
c.1422C>G (p.Pro474=)
c.1401C>G (p.Pro467=)
c.1293C>G (p.Pro431=)
n.4621C>G
c.1800C>G (p.Pro600=)
c.1707C>G (p.Pro569=)
c.1662C>G (p.Pro554=)
c.1635C>G (p.Pro545=)
c.1386C>G (p.Pro462=)
c.1131C>G (p.Pro377=)
c.1668C>G (p.Pro556=)
c.1590C>G (p.Pro530=)
c.1560C>G (p.Pro520=)
c.1539C>G (p.Pro513=)
c.1515C>G (p.Pro505=)
c.1470C>G (p.Pro490=)
c.1431C>G (p.Pro477=)
c.1341C>G (p.Pro447=)
c.1296C>G (p.Pro432=)
c.1719C>G (p.Pro573=)
c.1674C>G (p.Pro558=)
c.1728C>G (p.Pro576=)
c.1425C>G (p.Pro475=)
c.1332C>G (p.Pro444=)
c.1329C>G (p.Pro443=)
c.1260C>G (p.Pro420=)
c.1224C>G (p.Pro408=)
c.1221C>G (p.Pro407=)
c.1128C>G (p.Pro376=)
c.1083C>G (p.Pro361=)
 dbSNP gnomAD v2 gnomAD v4
2g.127048553G=CA1286710711BIN1c.1338C= (p.Pro446=)
c.1755C= (p.Pro585=)
c.1467C= (p.Pro489=)
c.1530C= (p.Pro510=)
c.1203C= (p.Pro401=)
c.1494C= (p.Pro498=)
c.1626C= (p.Pro542=)
c.1248C= (p.Pro416=)
c.1422C= (p.Pro474=)
c.1401C= (p.Pro467=)
c.1293C= (p.Pro431=)
n.4621C=
c.1800C= (p.Pro600=)
c.1707C= (p.Pro569=)
c.1662C= (p.Pro554=)
c.1635C= (p.Pro545=)
c.1386C= (p.Pro462=)
c.1131C= (p.Pro377=)
c.1668C= (p.Pro556=)
c.1590C= (p.Pro530=)
c.1560C= (p.Pro520=)
c.1539C= (p.Pro513=)
c.1515C= (p.Pro505=)
c.1470C= (p.Pro490=)
c.1431C= (p.Pro477=)
c.1341C= (p.Pro447=)
c.1296C= (p.Pro432=)
c.1719C= (p.Pro573=)
c.1674C= (p.Pro558=)
c.1728C= (p.Pro576=)
c.1425C= (p.Pro475=)
c.1332C= (p.Pro444=)
c.1329C= (p.Pro443=)
c.1260C= (p.Pro420=)
c.1224C= (p.Pro408=)
c.1221C= (p.Pro407=)
c.1128C= (p.Pro376=)
c.1083C= (p.Pro361=)
2g.127048553G>TCA428593636BIN1c.1338C>A (p.Pro446=)
c.1755C>A (p.Pro585=)
c.1467C>A (p.Pro489=)
c.1530C>A (p.Pro510=)
c.1203C>A (p.Pro401=)
c.1494C>A (p.Pro498=)
c.1626C>A (p.Pro542=)
c.1248C>A (p.Pro416=)
c.1422C>A (p.Pro474=)
c.1401C>A (p.Pro467=)
c.1293C>A (p.Pro431=)
n.4621C>A
c.1800C>A (p.Pro600=)
c.1707C>A (p.Pro569=)
c.1662C>A (p.Pro554=)
c.1635C>A (p.Pro545=)
c.1386C>A (p.Pro462=)
c.1131C>A (p.Pro377=)
c.1668C>A (p.Pro556=)
c.1590C>A (p.Pro530=)
c.1560C>A (p.Pro520=)
c.1539C>A (p.Pro513=)
c.1515C>A (p.Pro505=)
c.1470C>A (p.Pro490=)
c.1431C>A (p.Pro477=)
c.1341C>A (p.Pro447=)
c.1296C>A (p.Pro432=)
c.1719C>A (p.Pro573=)
c.1674C>A (p.Pro558=)
c.1728C>A (p.Pro576=)
c.1425C>A (p.Pro475=)
c.1332C>A (p.Pro444=)
c.1329C>A (p.Pro443=)
c.1260C>A (p.Pro420=)
c.1224C>A (p.Pro408=)
c.1221C>A (p.Pro407=)
c.1128C>A (p.Pro376=)
c.1083C>A (p.Pro361=)
2g.127048556delCA2660970090BIN1c.1338del (p.Glu447ArgfsTer?)
c.1755del (p.Glu586ArgfsTer?)
c.1467del (p.Glu490ArgfsTer?)
c.1530del (p.Glu511ArgfsTer?)
c.1203del (p.Glu402ArgfsTer?)
c.1494del (p.Glu499ArgfsTer?)
c.1626del (p.Glu543ArgfsTer?)
c.1248del (p.Glu417ArgfsTer?)
c.1422del (p.Glu475ArgfsTer?)
c.1401del (p.Glu468ArgfsTer?)
c.1293del (p.Glu432ArgfsTer?)
n.4621del
c.1800del (p.Glu601ArgfsTer?)
c.1707del (p.Glu570ArgfsTer?)
c.1662del (p.Glu555ArgfsTer?)
c.1635del (p.Glu546ArgfsTer?)
c.1386del (p.Glu463ArgfsTer?)
c.1131del (p.Glu378ArgfsTer?)
c.1668del (p.Glu557ArgfsTer?)
c.1590del (p.Glu531ArgfsTer?)
c.1560del (p.Glu521ArgfsTer?)
c.1539del (p.Glu514ArgfsTer?)
c.1515del (p.Glu506ArgfsTer?)
c.1470del (p.Glu491ArgfsTer?)
c.1431del (p.Glu478ArgfsTer?)
c.1341del (p.Glu448ArgfsTer?)
c.1296del (p.Glu433ArgfsTer?)
c.1719del (p.Glu574ArgfsTer?)
c.1674del (p.Glu559ArgfsTer?)
c.1728del (p.Glu577ArgfsTer?)
c.1425del (p.Glu476ArgfsTer?)
c.1332del (p.Glu445ArgfsTer?)
c.1329del (p.Glu444ArgfsTer?)
c.1260del (p.Glu421ArgfsTer?)
c.1224del (p.Glu409ArgfsTer?)
c.1221del (p.Glu408ArgfsTer?)
c.1128del (p.Glu377ArgfsTer?)
c.1083del (p.Glu362ArgfsTer?)
 gnomAD v4
2g.127048554G>ACA348373399BIN1c.1337C>T (p.Pro446Leu)
c.1754C>T (p.Pro585Leu)
c.1466C>T (p.Pro489Leu)
c.1529C>T (p.Pro510Leu)
c.1202C>T (p.Pro401Leu)
c.1493C>T (p.Pro498Leu)
c.1625C>T (p.Pro542Leu)
c.1247C>T (p.Pro416Leu)
c.1421C>T (p.Pro474Leu)
c.1400C>T (p.Pro467Leu)
c.1292C>T (p.Pro431Leu)
n.4620C>T
c.1799C>T (p.Pro600Leu)
c.1706C>T (p.Pro569Leu)
c.1661C>T (p.Pro554Leu)
c.1634C>T (p.Pro545Leu)
c.1385C>T (p.Pro462Leu)
c.1130C>T (p.Pro377Leu)
c.1667C>T (p.Pro556Leu)
c.1589C>T (p.Pro530Leu)
c.1559C>T (p.Pro520Leu)
c.1538C>T (p.Pro513Leu)
c.1514C>T (p.Pro505Leu)
c.1469C>T (p.Pro490Leu)
c.1430C>T (p.Pro477Leu)
c.1340C>T (p.Pro447Leu)
c.1295C>T (p.Pro432Leu)
c.1718C>T (p.Pro573Leu)
c.1673C>T (p.Pro558Leu)
c.1727C>T (p.Pro576Leu)
c.1424C>T (p.Pro475Leu)
c.1331C>T (p.Pro444Leu)
c.1328C>T (p.Pro443Leu)
c.1259C>T (p.Pro420Leu)
c.1223C>T (p.Pro408Leu)
c.1220C>T (p.Pro407Leu)
c.1127C>T (p.Pro376Leu)
c.1082C>T (p.Pro361Leu)
2g.127048554G>CCA348373401BIN1c.1337C>G (p.Pro446Arg)
c.1754C>G (p.Pro585Arg)
c.1466C>G (p.Pro489Arg)
c.1529C>G (p.Pro510Arg)
c.1202C>G (p.Pro401Arg)
c.1493C>G (p.Pro498Arg)
c.1625C>G (p.Pro542Arg)
c.1247C>G (p.Pro416Arg)
c.1421C>G (p.Pro474Arg)
c.1400C>G (p.Pro467Arg)
c.1292C>G (p.Pro431Arg)
n.4620C>G
c.1799C>G (p.Pro600Arg)
c.1706C>G (p.Pro569Arg)
c.1661C>G (p.Pro554Arg)
c.1634C>G (p.Pro545Arg)
c.1385C>G (p.Pro462Arg)
c.1130C>G (p.Pro377Arg)
c.1667C>G (p.Pro556Arg)
c.1589C>G (p.Pro530Arg)
c.1559C>G (p.Pro520Arg)
c.1538C>G (p.Pro513Arg)
c.1514C>G (p.Pro505Arg)
c.1469C>G (p.Pro490Arg)
c.1430C>G (p.Pro477Arg)
c.1340C>G (p.Pro447Arg)
c.1295C>G (p.Pro432Arg)
c.1718C>G (p.Pro573Arg)
c.1673C>G (p.Pro558Arg)
c.1727C>G (p.Pro576Arg)
c.1424C>G (p.Pro475Arg)
c.1331C>G (p.Pro444Arg)
c.1328C>G (p.Pro443Arg)
c.1259C>G (p.Pro420Arg)
c.1223C>G (p.Pro408Arg)
c.1220C>G (p.Pro407Arg)
c.1127C>G (p.Pro376Arg)
c.1082C>G (p.Pro361Arg)
2g.127048554G>TCA348373403BIN1c.1337C>A (p.Pro446His)
c.1754C>A (p.Pro585His)
c.1466C>A (p.Pro489His)
c.1529C>A (p.Pro510His)
c.1202C>A (p.Pro401His)
c.1493C>A (p.Pro498His)
c.1625C>A (p.Pro542His)
c.1247C>A (p.Pro416His)
c.1421C>A (p.Pro474His)
c.1400C>A (p.Pro467His)
c.1292C>A (p.Pro431His)
n.4620C>A
c.1799C>A (p.Pro600His)
c.1706C>A (p.Pro569His)
c.1661C>A (p.Pro554His)
c.1634C>A (p.Pro545His)
c.1385C>A (p.Pro462His)
c.1130C>A (p.Pro377His)
c.1667C>A (p.Pro556His)
c.1589C>A (p.Pro530His)
c.1559C>A (p.Pro520His)
c.1538C>A (p.Pro513His)
c.1514C>A (p.Pro505His)
c.1469C>A (p.Pro490His)
c.1430C>A (p.Pro477His)
c.1340C>A (p.Pro447His)
c.1295C>A (p.Pro432His)
c.1718C>A (p.Pro573His)
c.1673C>A (p.Pro558His)
c.1727C>A (p.Pro576His)
c.1424C>A (p.Pro475His)
c.1331C>A (p.Pro444His)
c.1328C>A (p.Pro443His)
c.1259C>A (p.Pro420His)
c.1223C>A (p.Pro408His)
c.1220C>A (p.Pro407His)
c.1127C>A (p.Pro376His)
c.1082C>A (p.Pro361His)
2g.127048555G>ACA348373404BIN1c.1336C>T (p.Pro446Ser)
c.1753C>T (p.Pro585Ser)
c.1465C>T (p.Pro489Ser)
c.1528C>T (p.Pro510Ser)
c.1201C>T (p.Pro401Ser)
c.1492C>T (p.Pro498Ser)
c.1624C>T (p.Pro542Ser)
c.1246C>T (p.Pro416Ser)
c.1420C>T (p.Pro474Ser)
c.1399C>T (p.Pro467Ser)
c.1291C>T (p.Pro431Ser)
n.4619C>T
c.1798C>T (p.Pro600Ser)
c.1705C>T (p.Pro569Ser)
c.1660C>T (p.Pro554Ser)
c.1633C>T (p.Pro545Ser)
c.1384C>T (p.Pro462Ser)
c.1129C>T (p.Pro377Ser)
c.1666C>T (p.Pro556Ser)
c.1588C>T (p.Pro530Ser)
c.1558C>T (p.Pro520Ser)
c.1537C>T (p.Pro513Ser)
c.1513C>T (p.Pro505Ser)
c.1468C>T (p.Pro490Ser)
c.1429C>T (p.Pro477Ser)
c.1339C>T (p.Pro447Ser)
c.1294C>T (p.Pro432Ser)
c.1717C>T (p.Pro573Ser)
c.1672C>T (p.Pro558Ser)
c.1726C>T (p.Pro576Ser)
c.1423C>T (p.Pro475Ser)
c.1330C>T (p.Pro444Ser)
c.1327C>T (p.Pro443Ser)
c.1258C>T (p.Pro420Ser)
c.1222C>T (p.Pro408Ser)
c.1219C>T (p.Pro407Ser)
c.1126C>T (p.Pro376Ser)
c.1081C>T (p.Pro361Ser)
 dbSNP
2g.127048555G>CCA348373406BIN1c.1336C>G (p.Pro446Ala)
c.1753C>G (p.Pro585Ala)
c.1465C>G (p.Pro489Ala)
c.1528C>G (p.Pro510Ala)
c.1201C>G (p.Pro401Ala)
c.1492C>G (p.Pro498Ala)
c.1624C>G (p.Pro542Ala)
c.1246C>G (p.Pro416Ala)
c.1420C>G (p.Pro474Ala)
c.1399C>G (p.Pro467Ala)
c.1291C>G (p.Pro431Ala)
n.4619C>G
c.1798C>G (p.Pro600Ala)
c.1705C>G (p.Pro569Ala)
c.1660C>G (p.Pro554Ala)
c.1633C>G (p.Pro545Ala)
c.1384C>G (p.Pro462Ala)
c.1129C>G (p.Pro377Ala)
c.1666C>G (p.Pro556Ala)
c.1588C>G (p.Pro530Ala)
c.1558C>G (p.Pro520Ala)
c.1537C>G (p.Pro513Ala)
c.1513C>G (p.Pro505Ala)
c.1468C>G (p.Pro490Ala)
c.1429C>G (p.Pro477Ala)
c.1339C>G (p.Pro447Ala)
c.1294C>G (p.Pro432Ala)
c.1717C>G (p.Pro573Ala)
c.1672C>G (p.Pro558Ala)
c.1726C>G (p.Pro576Ala)
c.1423C>G (p.Pro475Ala)
c.1330C>G (p.Pro444Ala)
c.1327C>G (p.Pro443Ala)
c.1258C>G (p.Pro420Ala)
c.1222C>G (p.Pro408Ala)
c.1219C>G (p.Pro407Ala)
c.1126C>G (p.Pro376Ala)
c.1081C>G (p.Pro361Ala)
2g.127048555G=CA1286710712BIN1c.1336C= (p.Pro446=)
c.1753C= (p.Pro585=)
c.1465C= (p.Pro489=)
c.1528C= (p.Pro510=)
c.1201C= (p.Pro401=)
c.1492C= (p.Pro498=)
c.1624C= (p.Pro542=)
c.1246C= (p.Pro416=)
c.1420C= (p.Pro474=)
c.1399C= (p.Pro467=)
c.1291C= (p.Pro431=)
n.4619C=
c.1798C= (p.Pro600=)
c.1705C= (p.Pro569=)
c.1660C= (p.Pro554=)
c.1633C= (p.Pro545=)
c.1384C= (p.Pro462=)
c.1129C= (p.Pro377=)
c.1666C= (p.Pro556=)
c.1588C= (p.Pro530=)
c.1558C= (p.Pro520=)
c.1537C= (p.Pro513=)
c.1513C= (p.Pro505=)
c.1468C= (p.Pro490=)
c.1429C= (p.Pro477=)
c.1339C= (p.Pro447=)
c.1294C= (p.Pro432=)
c.1717C= (p.Pro573=)
c.1672C= (p.Pro558=)
c.1726C= (p.Pro576=)
c.1423C= (p.Pro475=)
c.1330C= (p.Pro444=)
c.1327C= (p.Pro443=)
c.1258C= (p.Pro420=)
c.1222C= (p.Pro408=)
c.1219C= (p.Pro407=)
c.1126C= (p.Pro376=)
c.1081C= (p.Pro361=)
2g.127048555G>TCA348373407BIN1c.1336C>A (p.Pro446Thr)
c.1753C>A (p.Pro585Thr)
c.1465C>A (p.Pro489Thr)
c.1528C>A (p.Pro510Thr)
c.1201C>A (p.Pro401Thr)
c.1492C>A (p.Pro498Thr)
c.1624C>A (p.Pro542Thr)
c.1246C>A (p.Pro416Thr)
c.1420C>A (p.Pro474Thr)
c.1399C>A (p.Pro467Thr)
c.1291C>A (p.Pro431Thr)
n.4619C>A
c.1798C>A (p.Pro600Thr)
c.1705C>A (p.Pro569Thr)
c.1660C>A (p.Pro554Thr)
c.1633C>A (p.Pro545Thr)
c.1384C>A (p.Pro462Thr)
c.1129C>A (p.Pro377Thr)
c.1666C>A (p.Pro556Thr)
c.1588C>A (p.Pro530Thr)
c.1558C>A (p.Pro520Thr)
c.1537C>A (p.Pro513Thr)
c.1513C>A (p.Pro505Thr)
c.1468C>A (p.Pro490Thr)
c.1429C>A (p.Pro477Thr)
c.1339C>A (p.Pro447Thr)
c.1294C>A (p.Pro432Thr)
c.1717C>A (p.Pro573Thr)
c.1672C>A (p.Pro558Thr)
c.1726C>A (p.Pro576Thr)
c.1423C>A (p.Pro475Thr)
c.1330C>A (p.Pro444Thr)
c.1327C>A (p.Pro443Thr)
c.1258C>A (p.Pro420Thr)
c.1222C>A (p.Pro408Thr)
c.1219C>A (p.Pro407Thr)
c.1126C>A (p.Pro376Thr)
c.1081C>A (p.Pro361Thr)
2g.127048556G>ACA428593639BIN1c.1335C>T (p.Phe445=)
c.1752C>T (p.Phe584=)
c.1464C>T (p.Phe488=)
c.1527C>T (p.Phe509=)
c.1200C>T (p.Phe400=)
c.1491C>T (p.Phe497=)
c.1623C>T (p.Phe541=)
c.1245C>T (p.Phe415=)
c.1419C>T (p.Phe473=)
c.1398C>T (p.Phe466=)
c.1290C>T (p.Phe430=)
n.4618C>T
c.1797C>T (p.Phe599=)
c.1704C>T (p.Phe568=)
c.1659C>T (p.Phe553=)
c.1632C>T (p.Phe544=)
c.1383C>T (p.Phe461=)
c.1128C>T (p.Phe376=)
c.1665C>T (p.Phe555=)
c.1587C>T (p.Phe529=)
c.1557C>T (p.Phe519=)
c.1536C>T (p.Phe512=)
c.1512C>T (p.Phe504=)
c.1467C>T (p.Phe489=)
c.1428C>T (p.Phe476=)
c.1338C>T (p.Phe446=)
c.1293C>T (p.Phe431=)
c.1716C>T (p.Phe572=)
c.1671C>T (p.Phe557=)
c.1725C>T (p.Phe575=)
c.1422C>T (p.Phe474=)
c.1329C>T (p.Phe443=)
c.1326C>T (p.Phe442=)
c.1257C>T (p.Phe419=)
c.1221C>T (p.Phe407=)
c.1218C>T (p.Phe406=)
c.1125C>T (p.Phe375=)
c.1080C>T (p.Phe360=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.127048556G>CCA348373413BIN1c.1335C>G (p.Phe445Leu)
c.1752C>G (p.Phe584Leu)
c.1464C>G (p.Phe488Leu)
c.1527C>G (p.Phe509Leu)
c.1200C>G (p.Phe400Leu)
c.1491C>G (p.Phe497Leu)
c.1623C>G (p.Phe541Leu)
c.1245C>G (p.Phe415Leu)
c.1419C>G (p.Phe473Leu)
c.1398C>G (p.Phe466Leu)
c.1290C>G (p.Phe430Leu)
n.4618C>G
c.1797C>G (p.Phe599Leu)
c.1704C>G (p.Phe568Leu)
c.1659C>G (p.Phe553Leu)
c.1632C>G (p.Phe544Leu)
c.1383C>G (p.Phe461Leu)
c.1128C>G (p.Phe376Leu)
c.1665C>G (p.Phe555Leu)
c.1587C>G (p.Phe529Leu)
c.1557C>G (p.Phe519Leu)
c.1536C>G (p.Phe512Leu)
c.1512C>G (p.Phe504Leu)
c.1467C>G (p.Phe489Leu)
c.1428C>G (p.Phe476Leu)
c.1338C>G (p.Phe446Leu)
c.1293C>G (p.Phe431Leu)
c.1716C>G (p.Phe572Leu)
c.1671C>G (p.Phe557Leu)
c.1725C>G (p.Phe575Leu)
c.1422C>G (p.Phe474Leu)
c.1329C>G (p.Phe443Leu)
c.1326C>G (p.Phe442Leu)
c.1257C>G (p.Phe419Leu)
c.1221C>G (p.Phe407Leu)
c.1218C>G (p.Phe406Leu)
c.1125C>G (p.Phe375Leu)
c.1080C>G (p.Phe360Leu)
2g.127048556G=CA1286710713BIN1c.1335C= (p.Phe445=)
c.1752C= (p.Phe584=)
c.1464C= (p.Phe488=)
c.1527C= (p.Phe509=)
c.1200C= (p.Phe400=)
c.1491C= (p.Phe497=)
c.1623C= (p.Phe541=)
c.1245C= (p.Phe415=)
c.1419C= (p.Phe473=)
c.1398C= (p.Phe466=)
c.1290C= (p.Phe430=)
n.4618C=
c.1797C= (p.Phe599=)
c.1704C= (p.Phe568=)
c.1659C= (p.Phe553=)
c.1632C= (p.Phe544=)
c.1383C= (p.Phe461=)
c.1128C= (p.Phe376=)
c.1665C= (p.Phe555=)
c.1587C= (p.Phe529=)
c.1557C= (p.Phe519=)
c.1536C= (p.Phe512=)
c.1512C= (p.Phe504=)
c.1467C= (p.Phe489=)
c.1428C= (p.Phe476=)
c.1338C= (p.Phe446=)
c.1293C= (p.Phe431=)
c.1716C= (p.Phe572=)
c.1671C= (p.Phe557=)
c.1725C= (p.Phe575=)
c.1422C= (p.Phe474=)
c.1329C= (p.Phe443=)
c.1326C= (p.Phe442=)
c.1257C= (p.Phe419=)
c.1221C= (p.Phe407=)
c.1218C= (p.Phe406=)
c.1125C= (p.Phe375=)
c.1080C= (p.Phe360=)
2g.127048556G>TCA348373412BIN1c.1335C>A (p.Phe445Leu)
c.1752C>A (p.Phe584Leu)
c.1464C>A (p.Phe488Leu)
c.1527C>A (p.Phe509Leu)
c.1200C>A (p.Phe400Leu)
c.1491C>A (p.Phe497Leu)
c.1623C>A (p.Phe541Leu)
c.1245C>A (p.Phe415Leu)
c.1419C>A (p.Phe473Leu)
c.1398C>A (p.Phe466Leu)
c.1290C>A (p.Phe430Leu)
n.4618C>A
c.1797C>A (p.Phe599Leu)
c.1704C>A (p.Phe568Leu)
c.1659C>A (p.Phe553Leu)
c.1632C>A (p.Phe544Leu)
c.1383C>A (p.Phe461Leu)
c.1128C>A (p.Phe376Leu)
c.1665C>A (p.Phe555Leu)
c.1587C>A (p.Phe529Leu)
c.1557C>A (p.Phe519Leu)
c.1536C>A (p.Phe512Leu)
c.1512C>A (p.Phe504Leu)
c.1467C>A (p.Phe489Leu)
c.1428C>A (p.Phe476Leu)
c.1338C>A (p.Phe446Leu)
c.1293C>A (p.Phe431Leu)
c.1716C>A (p.Phe572Leu)
c.1671C>A (p.Phe557Leu)
c.1725C>A (p.Phe575Leu)
c.1422C>A (p.Phe474Leu)
c.1329C>A (p.Phe443Leu)
c.1326C>A (p.Phe442Leu)
c.1257C>A (p.Phe419Leu)
c.1221C>A (p.Phe407Leu)
c.1218C>A (p.Phe406Leu)
c.1125C>A (p.Phe375Leu)
c.1080C>A (p.Phe360Leu)
2g.127048557A=CA1286710714BIN1c.1334T= (p.Phe445=)
c.1751T= (p.Phe584=)
c.1463T= (p.Phe488=)
c.1526T= (p.Phe509=)
c.1199T= (p.Phe400=)
c.1490T= (p.Phe497=)
c.1622T= (p.Phe541=)
c.1244T= (p.Phe415=)
c.1418T= (p.Phe473=)
c.1397T= (p.Phe466=)
c.1289T= (p.Phe430=)
n.4617T=
c.1796T= (p.Phe599=)
c.1703T= (p.Phe568=)
c.1658T= (p.Phe553=)
c.1631T= (p.Phe544=)
c.1382T= (p.Phe461=)
c.1127T= (p.Phe376=)
c.1664T= (p.Phe555=)
c.1586T= (p.Phe529=)
c.1556T= (p.Phe519=)
c.1535T= (p.Phe512=)
c.1511T= (p.Phe504=)
c.1466T= (p.Phe489=)
c.1427T= (p.Phe476=)
c.1337T= (p.Phe446=)
c.1292T= (p.Phe431=)
c.1715T= (p.Phe572=)
c.1670T= (p.Phe557=)
c.1724T= (p.Phe575=)
c.1421T= (p.Phe474=)
c.1328T= (p.Phe443=)
c.1325T= (p.Phe442=)
c.1256T= (p.Phe419=)
c.1220T= (p.Phe407=)
c.1217T= (p.Phe406=)
c.1124T= (p.Phe375=)
c.1079T= (p.Phe360=)
2g.127048557A>CCA348373415BIN1c.1334T>G (p.Phe445Cys)
c.1751T>G (p.Phe584Cys)
c.1463T>G (p.Phe488Cys)
c.1526T>G (p.Phe509Cys)
c.1199T>G (p.Phe400Cys)
c.1490T>G (p.Phe497Cys)
c.1622T>G (p.Phe541Cys)
c.1244T>G (p.Phe415Cys)
c.1418T>G (p.Phe473Cys)
c.1397T>G (p.Phe466Cys)
c.1289T>G (p.Phe430Cys)
n.4617T>G
c.1796T>G (p.Phe599Cys)
c.1703T>G (p.Phe568Cys)
c.1658T>G (p.Phe553Cys)
c.1631T>G (p.Phe544Cys)
c.1382T>G (p.Phe461Cys)
c.1127T>G (p.Phe376Cys)
c.1664T>G (p.Phe555Cys)
c.1586T>G (p.Phe529Cys)
c.1556T>G (p.Phe519Cys)
c.1535T>G (p.Phe512Cys)
c.1511T>G (p.Phe504Cys)
c.1466T>G (p.Phe489Cys)
c.1427T>G (p.Phe476Cys)
c.1337T>G (p.Phe446Cys)
c.1292T>G (p.Phe431Cys)
c.1715T>G (p.Phe572Cys)
c.1670T>G (p.Phe557Cys)
c.1724T>G (p.Phe575Cys)
c.1421T>G (p.Phe474Cys)
c.1328T>G (p.Phe443Cys)
c.1325T>G (p.Phe442Cys)
c.1256T>G (p.Phe419Cys)
c.1220T>G (p.Phe407Cys)
c.1217T>G (p.Phe406Cys)
c.1124T>G (p.Phe375Cys)
c.1079T>G (p.Phe360Cys)
2g.127048557A>GCA348373417BIN1c.1334T>C (p.Phe445Ser)
c.1751T>C (p.Phe584Ser)
c.1463T>C (p.Phe488Ser)
c.1526T>C (p.Phe509Ser)
c.1199T>C (p.Phe400Ser)
c.1490T>C (p.Phe497Ser)
c.1622T>C (p.Phe541Ser)
c.1244T>C (p.Phe415Ser)
c.1418T>C (p.Phe473Ser)
c.1397T>C (p.Phe466Ser)
c.1289T>C (p.Phe430Ser)
n.4617T>C
c.1796T>C (p.Phe599Ser)
c.1703T>C (p.Phe568Ser)
c.1658T>C (p.Phe553Ser)
c.1631T>C (p.Phe544Ser)
c.1382T>C (p.Phe461Ser)
c.1127T>C (p.Phe376Ser)
c.1664T>C (p.Phe555Ser)
c.1586T>C (p.Phe529Ser)
c.1556T>C (p.Phe519Ser)
c.1535T>C (p.Phe512Ser)
c.1511T>C (p.Phe504Ser)
c.1466T>C (p.Phe489Ser)
c.1427T>C (p.Phe476Ser)
c.1337T>C (p.Phe446Ser)
c.1292T>C (p.Phe431Ser)
c.1715T>C (p.Phe572Ser)
c.1670T>C (p.Phe557Ser)
c.1724T>C (p.Phe575Ser)
c.1421T>C (p.Phe474Ser)
c.1328T>C (p.Phe443Ser)
c.1325T>C (p.Phe442Ser)
c.1256T>C (p.Phe419Ser)
c.1220T>C (p.Phe407Ser)
c.1217T>C (p.Phe406Ser)
c.1124T>C (p.Phe375Ser)
c.1079T>C (p.Phe360Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127048557A>TCA348373418BIN1c.1334T>A (p.Phe445Tyr)
c.1751T>A (p.Phe584Tyr)
c.1463T>A (p.Phe488Tyr)
c.1526T>A (p.Phe509Tyr)
c.1199T>A (p.Phe400Tyr)
c.1490T>A (p.Phe497Tyr)
c.1622T>A (p.Phe541Tyr)
c.1244T>A (p.Phe415Tyr)
c.1418T>A (p.Phe473Tyr)
c.1397T>A (p.Phe466Tyr)
c.1289T>A (p.Phe430Tyr)
n.4617T>A
c.1796T>A (p.Phe599Tyr)
c.1703T>A (p.Phe568Tyr)
c.1658T>A (p.Phe553Tyr)
c.1631T>A (p.Phe544Tyr)
c.1382T>A (p.Phe461Tyr)
c.1127T>A (p.Phe376Tyr)
c.1664T>A (p.Phe555Tyr)
c.1586T>A (p.Phe529Tyr)
c.1556T>A (p.Phe519Tyr)
c.1535T>A (p.Phe512Tyr)
c.1511T>A (p.Phe504Tyr)
c.1466T>A (p.Phe489Tyr)
c.1427T>A (p.Phe476Tyr)
c.1337T>A (p.Phe446Tyr)
c.1292T>A (p.Phe431Tyr)
c.1715T>A (p.Phe572Tyr)
c.1670T>A (p.Phe557Tyr)
c.1724T>A (p.Phe575Tyr)
c.1421T>A (p.Phe474Tyr)
c.1328T>A (p.Phe443Tyr)
c.1325T>A (p.Phe442Tyr)
c.1256T>A (p.Phe419Tyr)
c.1220T>A (p.Phe407Tyr)
c.1217T>A (p.Phe406Tyr)
c.1124T>A (p.Phe375Tyr)
c.1079T>A (p.Phe360Tyr)
2g.127048558A>CCA348373425BIN1c.1333T>G (p.Phe445Val)
c.1750T>G (p.Phe584Val)
c.1462T>G (p.Phe488Val)
c.1525T>G (p.Phe509Val)
c.1198T>G (p.Phe400Val)
c.1489T>G (p.Phe497Val)
c.1621T>G (p.Phe541Val)
c.1243T>G (p.Phe415Val)
c.1417T>G (p.Phe473Val)
c.1396T>G (p.Phe466Val)
c.1288T>G (p.Phe430Val)
n.4616T>G
c.1795T>G (p.Phe599Val)
c.1702T>G (p.Phe568Val)
c.1657T>G (p.Phe553Val)
c.1630T>G (p.Phe544Val)
c.1381T>G (p.Phe461Val)
c.1126T>G (p.Phe376Val)
c.1663T>G (p.Phe555Val)
c.1585T>G (p.Phe529Val)
c.1555T>G (p.Phe519Val)
c.1534T>G (p.Phe512Val)
c.1510T>G (p.Phe504Val)
c.1465T>G (p.Phe489Val)
c.1426T>G (p.Phe476Val)
c.1336T>G (p.Phe446Val)
c.1291T>G (p.Phe431Val)
c.1714T>G (p.Phe572Val)
c.1669T>G (p.Phe557Val)
c.1723T>G (p.Phe575Val)
c.1420T>G (p.Phe474Val)
c.1327T>G (p.Phe443Val)
c.1324T>G (p.Phe442Val)
c.1255T>G (p.Phe419Val)
c.1219T>G (p.Phe407Val)
c.1216T>G (p.Phe406Val)
c.1123T>G (p.Phe375Val)
c.1078T>G (p.Phe360Val)
2g.127048558A>GCA348373428BIN1c.1333T>C (p.Phe445Leu)
c.1750T>C (p.Phe584Leu)
c.1462T>C (p.Phe488Leu)
c.1525T>C (p.Phe509Leu)
c.1198T>C (p.Phe400Leu)
c.1489T>C (p.Phe497Leu)
c.1621T>C (p.Phe541Leu)
c.1243T>C (p.Phe415Leu)
c.1417T>C (p.Phe473Leu)
c.1396T>C (p.Phe466Leu)
c.1288T>C (p.Phe430Leu)
n.4616T>C
c.1795T>C (p.Phe599Leu)
c.1702T>C (p.Phe568Leu)
c.1657T>C (p.Phe553Leu)
c.1630T>C (p.Phe544Leu)
c.1381T>C (p.Phe461Leu)
c.1126T>C (p.Phe376Leu)
c.1663T>C (p.Phe555Leu)
c.1585T>C (p.Phe529Leu)
c.1555T>C (p.Phe519Leu)
c.1534T>C (p.Phe512Leu)
c.1510T>C (p.Phe504Leu)
c.1465T>C (p.Phe489Leu)
c.1426T>C (p.Phe476Leu)
c.1336T>C (p.Phe446Leu)
c.1291T>C (p.Phe431Leu)
c.1714T>C (p.Phe572Leu)
c.1669T>C (p.Phe557Leu)
c.1723T>C (p.Phe575Leu)
c.1420T>C (p.Phe474Leu)
c.1327T>C (p.Phe443Leu)
c.1324T>C (p.Phe442Leu)
c.1255T>C (p.Phe419Leu)
c.1219T>C (p.Phe407Leu)
c.1216T>C (p.Phe406Leu)
c.1123T>C (p.Phe375Leu)
c.1078T>C (p.Phe360Leu)
2g.127048558A>TCA348373429BIN1c.1333T>A (p.Phe445Ile)
c.1750T>A (p.Phe584Ile)
c.1462T>A (p.Phe488Ile)
c.1525T>A (p.Phe509Ile)
c.1198T>A (p.Phe400Ile)
c.1489T>A (p.Phe497Ile)
c.1621T>A (p.Phe541Ile)
c.1243T>A (p.Phe415Ile)
c.1417T>A (p.Phe473Ile)
c.1396T>A (p.Phe466Ile)
c.1288T>A (p.Phe430Ile)
n.4616T>A
c.1795T>A (p.Phe599Ile)
c.1702T>A (p.Phe568Ile)
c.1657T>A (p.Phe553Ile)
c.1630T>A (p.Phe544Ile)
c.1381T>A (p.Phe461Ile)
c.1126T>A (p.Phe376Ile)
c.1663T>A (p.Phe555Ile)
c.1585T>A (p.Phe529Ile)
c.1555T>A (p.Phe519Ile)
c.1534T>A (p.Phe512Ile)
c.1510T>A (p.Phe504Ile)
c.1465T>A (p.Phe489Ile)
c.1426T>A (p.Phe476Ile)
c.1336T>A (p.Phe446Ile)
c.1291T>A (p.Phe431Ile)
c.1714T>A (p.Phe572Ile)
c.1669T>A (p.Phe557Ile)
c.1723T>A (p.Phe575Ile)
c.1420T>A (p.Phe474Ile)
c.1327T>A (p.Phe443Ile)
c.1324T>A (p.Phe442Ile)
c.1255T>A (p.Phe419Ile)
c.1219T>A (p.Phe407Ile)
c.1216T>A (p.Phe406Ile)
c.1123T>A (p.Phe375Ile)
c.1078T>A (p.Phe360Ile)
2g.127048559G>ACA428593644BIN1c.1332C>T (p.Val444=)
c.1749C>T (p.Val583=)
c.1461C>T (p.Val487=)
c.1524C>T (p.Val508=)
c.1197C>T (p.Val399=)
c.1488C>T (p.Val496=)
c.1620C>T (p.Val540=)
c.1242C>T (p.Val414=)
c.1416C>T (p.Val472=)
c.1395C>T (p.Val465=)
c.1287C>T (p.Val429=)
n.4615C>T
c.1794C>T (p.Val598=)
c.1701C>T (p.Val567=)
c.1656C>T (p.Val552=)
c.1629C>T (p.Val543=)
c.1380C>T (p.Val460=)
c.1125C>T (p.Val375=)
c.1662C>T (p.Val554=)
c.1584C>T (p.Val528=)
c.1554C>T (p.Val518=)
c.1533C>T (p.Val511=)
c.1509C>T (p.Val503=)
c.1464C>T (p.Val488=)
c.1425C>T (p.Val475=)
c.1335C>T (p.Val445=)
c.1290C>T (p.Val430=)
c.1713C>T (p.Val571=)
c.1668C>T (p.Val556=)
c.1722C>T (p.Val574=)
c.1419C>T (p.Val473=)
c.1326C>T (p.Val442=)
c.1323C>T (p.Val441=)
c.1254C>T (p.Val418=)
c.1218C>T (p.Val406=)
c.1215C>T (p.Val405=)
c.1122C>T (p.Val374=)
c.1077C>T (p.Val359=)
2g.127048559G>CCA428593645BIN1c.1332C>G (p.Val444=)
c.1749C>G (p.Val583=)
c.1461C>G (p.Val487=)
c.1524C>G (p.Val508=)
c.1197C>G (p.Val399=)
c.1488C>G (p.Val496=)
c.1620C>G (p.Val540=)
c.1242C>G (p.Val414=)
c.1416C>G (p.Val472=)
c.1395C>G (p.Val465=)
c.1287C>G (p.Val429=)
n.4615C>G
c.1794C>G (p.Val598=)
c.1701C>G (p.Val567=)
c.1656C>G (p.Val552=)
c.1629C>G (p.Val543=)
c.1380C>G (p.Val460=)
c.1125C>G (p.Val375=)
c.1662C>G (p.Val554=)
c.1584C>G (p.Val528=)
c.1554C>G (p.Val518=)
c.1533C>G (p.Val511=)
c.1509C>G (p.Val503=)
c.1464C>G (p.Val488=)
c.1425C>G (p.Val475=)
c.1335C>G (p.Val445=)
c.1290C>G (p.Val430=)
c.1713C>G (p.Val571=)
c.1668C>G (p.Val556=)
c.1722C>G (p.Val574=)
c.1419C>G (p.Val473=)
c.1326C>G (p.Val442=)
c.1323C>G (p.Val441=)
c.1254C>G (p.Val418=)
c.1218C>G (p.Val406=)
c.1215C>G (p.Val405=)
c.1122C>G (p.Val374=)
c.1077C>G (p.Val359=)
2g.127048559G>TCA428593646BIN1c.1332C>A (p.Val444=)
c.1749C>A (p.Val583=)
c.1461C>A (p.Val487=)
c.1524C>A (p.Val508=)
c.1197C>A (p.Val399=)
c.1488C>A (p.Val496=)
c.1620C>A (p.Val540=)
c.1242C>A (p.Val414=)
c.1416C>A (p.Val472=)
c.1395C>A (p.Val465=)
c.1287C>A (p.Val429=)
n.4615C>A
c.1794C>A (p.Val598=)
c.1701C>A (p.Val567=)
c.1656C>A (p.Val552=)
c.1629C>A (p.Val543=)
c.1380C>A (p.Val460=)
c.1125C>A (p.Val375=)
c.1662C>A (p.Val554=)
c.1584C>A (p.Val528=)
c.1554C>A (p.Val518=)
c.1533C>A (p.Val511=)
c.1509C>A (p.Val503=)
c.1464C>A (p.Val488=)
c.1425C>A (p.Val475=)
c.1335C>A (p.Val445=)
c.1290C>A (p.Val430=)
c.1713C>A (p.Val571=)
c.1668C>A (p.Val556=)
c.1722C>A (p.Val574=)
c.1419C>A (p.Val473=)
c.1326C>A (p.Val442=)
c.1323C>A (p.Val441=)
c.1254C>A (p.Val418=)
c.1218C>A (p.Val406=)
c.1215C>A (p.Val405=)
c.1122C>A (p.Val374=)
c.1077C>A (p.Val359=)
2g.127048560A>CCA348373432BIN1c.1331T>G (p.Val444Gly)
c.1748T>G (p.Val583Gly)
c.1460T>G (p.Val487Gly)
c.1523T>G (p.Val508Gly)
c.1196T>G (p.Val399Gly)
c.1487T>G (p.Val496Gly)
c.1619T>G (p.Val540Gly)
c.1241T>G (p.Val414Gly)
c.1415T>G (p.Val472Gly)
c.1394T>G (p.Val465Gly)
c.1286T>G (p.Val429Gly)
n.4614T>G
c.1793T>G (p.Val598Gly)
c.1700T>G (p.Val567Gly)
c.1655T>G (p.Val552Gly)
c.1628T>G (p.Val543Gly)
c.1379T>G (p.Val460Gly)
c.1124T>G (p.Val375Gly)
c.1661T>G (p.Val554Gly)
c.1583T>G (p.Val528Gly)
c.1553T>G (p.Val518Gly)
c.1532T>G (p.Val511Gly)
c.1508T>G (p.Val503Gly)
c.1463T>G (p.Val488Gly)
c.1424T>G (p.Val475Gly)
c.1334T>G (p.Val445Gly)
c.1289T>G (p.Val430Gly)
c.1712T>G (p.Val571Gly)
c.1667T>G (p.Val556Gly)
c.1721T>G (p.Val574Gly)
c.1418T>G (p.Val473Gly)
c.1325T>G (p.Val442Gly)
c.1322T>G (p.Val441Gly)
c.1253T>G (p.Val418Gly)
c.1217T>G (p.Val406Gly)
c.1214T>G (p.Val405Gly)
c.1121T>G (p.Val374Gly)
c.1076T>G (p.Val359Gly)
2g.127048560A>GCA348373435BIN1c.1331T>C (p.Val444Ala)
c.1748T>C (p.Val583Ala)
c.1460T>C (p.Val487Ala)
c.1523T>C (p.Val508Ala)
c.1196T>C (p.Val399Ala)
c.1487T>C (p.Val496Ala)
c.1619T>C (p.Val540Ala)
c.1241T>C (p.Val414Ala)
c.1415T>C (p.Val472Ala)
c.1394T>C (p.Val465Ala)
c.1286T>C (p.Val429Ala)
n.4614T>C
c.1793T>C (p.Val598Ala)
c.1700T>C (p.Val567Ala)
c.1655T>C (p.Val552Ala)
c.1628T>C (p.Val543Ala)
c.1379T>C (p.Val460Ala)
c.1124T>C (p.Val375Ala)
c.1661T>C (p.Val554Ala)
c.1583T>C (p.Val528Ala)
c.1553T>C (p.Val518Ala)
c.1532T>C (p.Val511Ala)
c.1508T>C (p.Val503Ala)
c.1463T>C (p.Val488Ala)
c.1424T>C (p.Val475Ala)
c.1334T>C (p.Val445Ala)
c.1289T>C (p.Val430Ala)
c.1712T>C (p.Val571Ala)
c.1667T>C (p.Val556Ala)
c.1721T>C (p.Val574Ala)
c.1418T>C (p.Val473Ala)
c.1325T>C (p.Val442Ala)
c.1322T>C (p.Val441Ala)
c.1253T>C (p.Val418Ala)
c.1217T>C (p.Val406Ala)
c.1214T>C (p.Val405Ala)
c.1121T>C (p.Val374Ala)
c.1076T>C (p.Val359Ala)
2g.127048560A>TCA348373436BIN1c.1331T>A (p.Val444Asp)
c.1748T>A (p.Val583Asp)
c.1460T>A (p.Val487Asp)
c.1523T>A (p.Val508Asp)
c.1196T>A (p.Val399Asp)
c.1487T>A (p.Val496Asp)
c.1619T>A (p.Val540Asp)
c.1241T>A (p.Val414Asp)
c.1415T>A (p.Val472Asp)
c.1394T>A (p.Val465Asp)
c.1286T>A (p.Val429Asp)
n.4614T>A
c.1793T>A (p.Val598Asp)
c.1700T>A (p.Val567Asp)
c.1655T>A (p.Val552Asp)
c.1628T>A (p.Val543Asp)
c.1379T>A (p.Val460Asp)
c.1124T>A (p.Val375Asp)
c.1661T>A (p.Val554Asp)
c.1583T>A (p.Val528Asp)
c.1553T>A (p.Val518Asp)
c.1532T>A (p.Val511Asp)
c.1508T>A (p.Val503Asp)
c.1463T>A (p.Val488Asp)
c.1424T>A (p.Val475Asp)
c.1334T>A (p.Val445Asp)
c.1289T>A (p.Val430Asp)
c.1712T>A (p.Val571Asp)
c.1667T>A (p.Val556Asp)
c.1721T>A (p.Val574Asp)
c.1418T>A (p.Val473Asp)
c.1325T>A (p.Val442Asp)
c.1322T>A (p.Val441Asp)
c.1253T>A (p.Val418Asp)
c.1217T>A (p.Val406Asp)
c.1214T>A (p.Val405Asp)
c.1121T>A (p.Val374Asp)
c.1076T>A (p.Val359Asp)
2g.127048561C>ACA55334948BIN1c.1330G>T (p.Val444Phe)
c.1747G>T (p.Val583Phe)
c.1459G>T (p.Val487Phe)
c.1522G>T (p.Val508Phe)
c.1195G>T (p.Val399Phe)
c.1486G>T (p.Val496Phe)
c.1618G>T (p.Val540Phe)
c.1240G>T (p.Val414Phe)
c.1414G>T (p.Val472Phe)
c.1393G>T (p.Val465Phe)
c.1285G>T (p.Val429Phe)
n.4613G>T
c.1792G>T (p.Val598Phe)
c.1699G>T (p.Val567Phe)
c.1654G>T (p.Val552Phe)
c.1627G>T (p.Val543Phe)
c.1378G>T (p.Val460Phe)
c.1123G>T (p.Val375Phe)
c.1660G>T (p.Val554Phe)
c.1582G>T (p.Val528Phe)
c.1552G>T (p.Val518Phe)
c.1531G>T (p.Val511Phe)
c.1507G>T (p.Val503Phe)
c.1462G>T (p.Val488Phe)
c.1423G>T (p.Val475Phe)
c.1333G>T (p.Val445Phe)
c.1288G>T (p.Val430Phe)
c.1711G>T (p.Val571Phe)
c.1666G>T (p.Val556Phe)
c.1720G>T (p.Val574Phe)
c.1417G>T (p.Val473Phe)
c.1324G>T (p.Val442Phe)
c.1321G>T (p.Val441Phe)
c.1252G>T (p.Val418Phe)
c.1216G>T (p.Val406Phe)
c.1213G>T (p.Val405Phe)
c.1120G>T (p.Val374Phe)
c.1075G>T (p.Val359Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.127048561C=CA1286710715BIN1c.1330G= (p.Val444=)
c.1747G= (p.Val583=)
c.1459G= (p.Val487=)
c.1522G= (p.Val508=)
c.1195G= (p.Val399=)
c.1486G= (p.Val496=)
c.1618G= (p.Val540=)
c.1240G= (p.Val414=)
c.1414G= (p.Val472=)
c.1393G= (p.Val465=)
c.1285G= (p.Val429=)
n.4613G=
c.1792G= (p.Val598=)
c.1699G= (p.Val567=)
c.1654G= (p.Val552=)
c.1627G= (p.Val543=)
c.1378G= (p.Val460=)
c.1123G= (p.Val375=)
c.1660G= (p.Val554=)
c.1582G= (p.Val528=)
c.1552G= (p.Val518=)
c.1531G= (p.Val511=)
c.1507G= (p.Val503=)
c.1462G= (p.Val488=)
c.1423G= (p.Val475=)
c.1333G= (p.Val445=)
c.1288G= (p.Val430=)
c.1711G= (p.Val571=)
c.1666G= (p.Val556=)
c.1720G= (p.Val574=)
c.1417G= (p.Val473=)
c.1324G= (p.Val442=)
c.1321G= (p.Val441=)
c.1252G= (p.Val418=)
c.1216G= (p.Val406=)
c.1213G= (p.Val405=)
c.1120G= (p.Val374=)
c.1075G= (p.Val359=)
2g.127048561C>GCA348373437BIN1c.1330G>C (p.Val444Leu)
c.1747G>C (p.Val583Leu)
c.1459G>C (p.Val487Leu)
c.1522G>C (p.Val508Leu)
c.1195G>C (p.Val399Leu)
c.1486G>C (p.Val496Leu)
c.1618G>C (p.Val540Leu)
c.1240G>C (p.Val414Leu)
c.1414G>C (p.Val472Leu)
c.1393G>C (p.Val465Leu)
c.1285G>C (p.Val429Leu)
n.4613G>C
c.1792G>C (p.Val598Leu)
c.1699G>C (p.Val567Leu)
c.1654G>C (p.Val552Leu)
c.1627G>C (p.Val543Leu)
c.1378G>C (p.Val460Leu)
c.1123G>C (p.Val375Leu)
c.1660G>C (p.Val554Leu)
c.1582G>C (p.Val528Leu)
c.1552G>C (p.Val518Leu)
c.1531G>C (p.Val511Leu)
c.1507G>C (p.Val503Leu)
c.1462G>C (p.Val488Leu)
c.1423G>C (p.Val475Leu)
c.1333G>C (p.Val445Leu)
c.1288G>C (p.Val430Leu)
c.1711G>C (p.Val571Leu)
c.1666G>C (p.Val556Leu)
c.1720G>C (p.Val574Leu)
c.1417G>C (p.Val473Leu)
c.1324G>C (p.Val442Leu)
c.1321G>C (p.Val441Leu)
c.1252G>C (p.Val418Leu)
c.1216G>C (p.Val406Leu)
c.1213G>C (p.Val405Leu)
c.1120G>C (p.Val374Leu)
c.1075G>C (p.Val359Leu)
2g.127048561C>TCA1856927BIN1c.1330G>A (p.Val444Ile)
c.1747G>A (p.Val583Ile)
c.1459G>A (p.Val487Ile)
c.1522G>A (p.Val508Ile)
c.1195G>A (p.Val399Ile)
c.1486G>A (p.Val496Ile)
c.1618G>A (p.Val540Ile)
c.1240G>A (p.Val414Ile)
c.1414G>A (p.Val472Ile)
c.1393G>A (p.Val465Ile)
c.1285G>A (p.Val429Ile)
n.4613G>A
c.1792G>A (p.Val598Ile)
c.1699G>A (p.Val567Ile)
c.1654G>A (p.Val552Ile)
c.1627G>A (p.Val543Ile)
c.1378G>A (p.Val460Ile)
c.1123G>A (p.Val375Ile)
c.1660G>A (p.Val554Ile)
c.1582G>A (p.Val528Ile)
c.1552G>A (p.Val518Ile)
c.1531G>A (p.Val511Ile)
c.1507G>A (p.Val503Ile)
c.1462G>A (p.Val488Ile)
c.1423G>A (p.Val475Ile)
c.1333G>A (p.Val445Ile)
c.1288G>A (p.Val430Ile)
c.1711G>A (p.Val571Ile)
c.1666G>A (p.Val556Ile)
c.1720G>A (p.Val574Ile)
c.1417G>A (p.Val473Ile)
c.1324G>A (p.Val442Ile)
c.1321G>A (p.Val441Ile)
c.1252G>A (p.Val418Ile)
c.1216G>A (p.Val406Ile)
c.1213G>A (p.Val405Ile)
c.1120G>A (p.Val374Ile)
c.1075G>A (p.Val359Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.127048562G>ACA55334949BIN1c.1329C>T (p.Gly443=)
c.1746C>T (p.Gly582=)
c.1458C>T (p.Gly486=)
c.1521C>T (p.Gly507=)
c.1194C>T (p.Gly398=)
c.1485C>T (p.Gly495=)
c.1617C>T (p.Gly539=)
c.1239C>T (p.Gly413=)
c.1413C>T (p.Gly471=)
c.1392C>T (p.Gly464=)
c.1284C>T (p.Gly428=)
n.4612C>T
c.1791C>T (p.Gly597=)
c.1698C>T (p.Gly566=)
c.1653C>T (p.Gly551=)
c.1626C>T (p.Gly542=)
c.1377C>T (p.Gly459=)
c.1122C>T (p.Gly374=)
c.1659C>T (p.Gly553=)
c.1581C>T (p.Gly527=)
c.1551C>T (p.Gly517=)
c.1530C>T (p.Gly510=)
c.1506C>T (p.Gly502=)
c.1461C>T (p.Gly487=)
c.1422C>T (p.Gly474=)
c.1332C>T (p.Gly444=)
c.1287C>T (p.Gly429=)
c.1710C>T (p.Gly570=)
c.1665C>T (p.Gly555=)
c.1719C>T (p.Gly573=)
c.1416C>T (p.Gly472=)
c.1323C>T (p.Gly441=)
c.1320C>T (p.Gly440=)
c.1251C>T (p.Gly417=)
c.1215C>T (p.Gly405=)
c.1212C>T (p.Gly404=)
c.1119C>T (p.Gly373=)
c.1074C>T (p.Gly358=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.127048562G>CCA428593649BIN1c.1329C>G (p.Gly443=)
c.1746C>G (p.Gly582=)
c.1458C>G (p.Gly486=)
c.1521C>G (p.Gly507=)
c.1194C>G (p.Gly398=)
c.1485C>G (p.Gly495=)
c.1617C>G (p.Gly539=)
c.1239C>G (p.Gly413=)
c.1413C>G (p.Gly471=)
c.1392C>G (p.Gly464=)
c.1284C>G (p.Gly428=)
n.4612C>G
c.1791C>G (p.Gly597=)
c.1698C>G (p.Gly566=)
c.1653C>G (p.Gly551=)
c.1626C>G (p.Gly542=)
c.1377C>G (p.Gly459=)
c.1122C>G (p.Gly374=)
c.1659C>G (p.Gly553=)
c.1581C>G (p.Gly527=)
c.1551C>G (p.Gly517=)
c.1530C>G (p.Gly510=)
c.1506C>G (p.Gly502=)
c.1461C>G (p.Gly487=)
c.1422C>G (p.Gly474=)
c.1332C>G (p.Gly444=)
c.1287C>G (p.Gly429=)
c.1710C>G (p.Gly570=)
c.1665C>G (p.Gly555=)
c.1719C>G (p.Gly573=)
c.1416C>G (p.Gly472=)
c.1323C>G (p.Gly441=)
c.1320C>G (p.Gly440=)
c.1251C>G (p.Gly417=)
c.1215C>G (p.Gly405=)
c.1212C>G (p.Gly404=)
c.1119C>G (p.Gly373=)
c.1074C>G (p.Gly358=)
2g.127048562G=CA1286710716BIN1c.1329C= (p.Gly443=)
c.1746C= (p.Gly582=)
c.1458C= (p.Gly486=)
c.1521C= (p.Gly507=)
c.1194C= (p.Gly398=)
c.1485C= (p.Gly495=)
c.1617C= (p.Gly539=)
c.1239C= (p.Gly413=)
c.1413C= (p.Gly471=)
c.1392C= (p.Gly464=)
c.1284C= (p.Gly428=)
n.4612C=
c.1791C= (p.Gly597=)
c.1698C= (p.Gly566=)
c.1653C= (p.Gly551=)
c.1626C= (p.Gly542=)
c.1377C= (p.Gly459=)
c.1122C= (p.Gly374=)
c.1659C= (p.Gly553=)
c.1581C= (p.Gly527=)
c.1551C= (p.Gly517=)
c.1530C= (p.Gly510=)
c.1506C= (p.Gly502=)
c.1461C= (p.Gly487=)
c.1422C= (p.Gly474=)
c.1332C= (p.Gly444=)
c.1287C= (p.Gly429=)
c.1710C= (p.Gly570=)
c.1665C= (p.Gly555=)
c.1719C= (p.Gly573=)
c.1416C= (p.Gly472=)
c.1323C= (p.Gly441=)
c.1320C= (p.Gly440=)
c.1251C= (p.Gly417=)
c.1215C= (p.Gly405=)
c.1212C= (p.Gly404=)
c.1119C= (p.Gly373=)
c.1074C= (p.Gly358=)
2g.127048562G>TCA428593650BIN1c.1329C>A (p.Gly443=)
c.1746C>A (p.Gly582=)
c.1458C>A (p.Gly486=)
c.1521C>A (p.Gly507=)
c.1194C>A (p.Gly398=)
c.1485C>A (p.Gly495=)
c.1617C>A (p.Gly539=)
c.1239C>A (p.Gly413=)
c.1413C>A (p.Gly471=)
c.1392C>A (p.Gly464=)
c.1284C>A (p.Gly428=)
n.4612C>A
c.1791C>A (p.Gly597=)
c.1698C>A (p.Gly566=)
c.1653C>A (p.Gly551=)
c.1626C>A (p.Gly542=)
c.1377C>A (p.Gly459=)
c.1122C>A (p.Gly374=)
c.1659C>A (p.Gly553=)
c.1581C>A (p.Gly527=)
c.1551C>A (p.Gly517=)
c.1530C>A (p.Gly510=)
c.1506C>A (p.Gly502=)
c.1461C>A (p.Gly487=)
c.1422C>A (p.Gly474=)
c.1332C>A (p.Gly444=)
c.1287C>A (p.Gly429=)
c.1710C>A (p.Gly570=)
c.1665C>A (p.Gly555=)
c.1719C>A (p.Gly573=)
c.1416C>A (p.Gly472=)
c.1323C>A (p.Gly441=)
c.1320C>A (p.Gly440=)
c.1251C>A (p.Gly417=)
c.1215C>A (p.Gly405=)
c.1212C>A (p.Gly404=)
c.1119C>A (p.Gly373=)
c.1074C>A (p.Gly358=)
 gnomAD v4
2g.127048563C>ACA348373451BIN1c.1328G>T (p.Gly443Val)
c.1745G>T (p.Gly582Val)
c.1457G>T (p.Gly486Val)
c.1520G>T (p.Gly507Val)
c.1193G>T (p.Gly398Val)
c.1484G>T (p.Gly495Val)
c.1616G>T (p.Gly539Val)
c.1238G>T (p.Gly413Val)
c.1412G>T (p.Gly471Val)
c.1391G>T (p.Gly464Val)
c.1283G>T (p.Gly428Val)
n.4611G>T
c.1790G>T (p.Gly597Val)
c.1697G>T (p.Gly566Val)
c.1652G>T (p.Gly551Val)
c.1625G>T (p.Gly542Val)
c.1376G>T (p.Gly459Val)
c.1121G>T (p.Gly374Val)
c.1658G>T (p.Gly553Val)
c.1580G>T (p.Gly527Val)
c.1550G>T (p.Gly517Val)
c.1529G>T (p.Gly510Val)
c.1505G>T (p.Gly502Val)
c.1460G>T (p.Gly487Val)
c.1421G>T (p.Gly474Val)
c.1331G>T (p.Gly444Val)
c.1286G>T (p.Gly429Val)
c.1709G>T (p.Gly570Val)
c.1664G>T (p.Gly555Val)
c.1718G>T (p.Gly573Val)
c.1415G>T (p.Gly472Val)
c.1322G>T (p.Gly441Val)
c.1319G>T (p.Gly440Val)
c.1250G>T (p.Gly417Val)
c.1214G>T (p.Gly405Val)
c.1211G>T (p.Gly404Val)
c.1118G>T (p.Gly373Val)
c.1073G>T (p.Gly358Val)
 COSMIC
2g.127048563C>GCA348373449BIN1c.1328G>C (p.Gly443Ala)
c.1745G>C (p.Gly582Ala)
c.1457G>C (p.Gly486Ala)
c.1520G>C (p.Gly507Ala)
c.1193G>C (p.Gly398Ala)
c.1484G>C (p.Gly495Ala)
c.1616G>C (p.Gly539Ala)
c.1238G>C (p.Gly413Ala)
c.1412G>C (p.Gly471Ala)
c.1391G>C (p.Gly464Ala)
c.1283G>C (p.Gly428Ala)
n.4611G>C
c.1790G>C (p.Gly597Ala)
c.1697G>C (p.Gly566Ala)
c.1652G>C (p.Gly551Ala)
c.1625G>C (p.Gly542Ala)
c.1376G>C (p.Gly459Ala)
c.1121G>C (p.Gly374Ala)
c.1658G>C (p.Gly553Ala)
c.1580G>C (p.Gly527Ala)
c.1550G>C (p.Gly517Ala)
c.1529G>C (p.Gly510Ala)
c.1505G>C (p.Gly502Ala)
c.1460G>C (p.Gly487Ala)
c.1421G>C (p.Gly474Ala)
c.1331G>C (p.Gly444Ala)
c.1286G>C (p.Gly429Ala)
c.1709G>C (p.Gly570Ala)
c.1664G>C (p.Gly555Ala)
c.1718G>C (p.Gly573Ala)
c.1415G>C (p.Gly472Ala)
c.1322G>C (p.Gly441Ala)
c.1319G>C (p.Gly440Ala)
c.1250G>C (p.Gly417Ala)
c.1214G>C (p.Gly405Ala)
c.1211G>C (p.Gly404Ala)
c.1118G>C (p.Gly373Ala)
c.1073G>C (p.Gly358Ala)
2g.127048563C>TCA348373450BIN1c.1328G>A (p.Gly443Asp)
c.1745G>A (p.Gly582Asp)
c.1457G>A (p.Gly486Asp)
c.1520G>A (p.Gly507Asp)
c.1193G>A (p.Gly398Asp)
c.1484G>A (p.Gly495Asp)
c.1616G>A (p.Gly539Asp)
c.1238G>A (p.Gly413Asp)
c.1412G>A (p.Gly471Asp)
c.1391G>A (p.Gly464Asp)
c.1283G>A (p.Gly428Asp)
n.4611G>A
c.1790G>A (p.Gly597Asp)
c.1697G>A (p.Gly566Asp)
c.1652G>A (p.Gly551Asp)
c.1625G>A (p.Gly542Asp)
c.1376G>A (p.Gly459Asp)
c.1121G>A (p.Gly374Asp)
c.1658G>A (p.Gly553Asp)
c.1580G>A (p.Gly527Asp)
c.1550G>A (p.Gly517Asp)
c.1529G>A (p.Gly510Asp)
c.1505G>A (p.Gly502Asp)
c.1460G>A (p.Gly487Asp)
c.1421G>A (p.Gly474Asp)
c.1331G>A (p.Gly444Asp)
c.1286G>A (p.Gly429Asp)
c.1709G>A (p.Gly570Asp)
c.1664G>A (p.Gly555Asp)
c.1718G>A (p.Gly573Asp)
c.1415G>A (p.Gly472Asp)
c.1322G>A (p.Gly441Asp)
c.1319G>A (p.Gly440Asp)
c.1250G>A (p.Gly417Asp)
c.1214G>A (p.Gly405Asp)
c.1211G>A (p.Gly404Asp)
c.1118G>A (p.Gly373Asp)
c.1073G>A (p.Gly358Asp)
2g.127048564C>ACA348373452BIN1c.1327G>T (p.Gly443Cys)
c.1744G>T (p.Gly582Cys)
c.1456G>T (p.Gly486Cys)
c.1519G>T (p.Gly507Cys)
c.1192G>T (p.Gly398Cys)
c.1483G>T (p.Gly495Cys)
c.1615G>T (p.Gly539Cys)
c.1237G>T (p.Gly413Cys)
c.1411G>T (p.Gly471Cys)
c.1390G>T (p.Gly464Cys)
c.1282G>T (p.Gly428Cys)
n.4610G>T
c.1789G>T (p.Gly597Cys)
c.1696G>T (p.Gly566Cys)
c.1651G>T (p.Gly551Cys)
c.1624G>T (p.Gly542Cys)
c.1375G>T (p.Gly459Cys)
c.1120G>T (p.Gly374Cys)
c.1657G>T (p.Gly553Cys)
c.1579G>T (p.Gly527Cys)
c.1549G>T (p.Gly517Cys)
c.1528G>T (p.Gly510Cys)
c.1504G>T (p.Gly502Cys)
c.1459G>T (p.Gly487Cys)
c.1420G>T (p.Gly474Cys)
c.1330G>T (p.Gly444Cys)
c.1285G>T (p.Gly429Cys)
c.1708G>T (p.Gly570Cys)
c.1663G>T (p.Gly555Cys)
c.1717G>T (p.Gly573Cys)
c.1414G>T (p.Gly472Cys)
c.1321G>T (p.Gly441Cys)
c.1318G>T (p.Gly440Cys)
c.1249G>T (p.Gly417Cys)
c.1213G>T (p.Gly405Cys)
c.1210G>T (p.Gly404Cys)
c.1117G>T (p.Gly373Cys)
c.1072G>T (p.Gly358Cys)
2g.127048564C>GCA348373453BIN1c.1327G>C (p.Gly443Arg)
c.1744G>C (p.Gly582Arg)
c.1456G>C (p.Gly486Arg)
c.1519G>C (p.Gly507Arg)
c.1192G>C (p.Gly398Arg)
c.1483G>C (p.Gly495Arg)
c.1615G>C (p.Gly539Arg)
c.1237G>C (p.Gly413Arg)
c.1411G>C (p.Gly471Arg)
c.1390G>C (p.Gly464Arg)
c.1282G>C (p.Gly428Arg)
n.4610G>C
c.1789G>C (p.Gly597Arg)
c.1696G>C (p.Gly566Arg)
c.1651G>C (p.Gly551Arg)
c.1624G>C (p.Gly542Arg)
c.1375G>C (p.Gly459Arg)
c.1120G>C (p.Gly374Arg)
c.1657G>C (p.Gly553Arg)
c.1579G>C (p.Gly527Arg)
c.1549G>C (p.Gly517Arg)
c.1528G>C (p.Gly510Arg)
c.1504G>C (p.Gly502Arg)
c.1459G>C (p.Gly487Arg)
c.1420G>C (p.Gly474Arg)
c.1330G>C (p.Gly444Arg)
c.1285G>C (p.Gly429Arg)
c.1708G>C (p.Gly570Arg)
c.1663G>C (p.Gly555Arg)
c.1717G>C (p.Gly573Arg)
c.1414G>C (p.Gly472Arg)
c.1321G>C (p.Gly441Arg)
c.1318G>C (p.Gly440Arg)
c.1249G>C (p.Gly417Arg)
c.1213G>C (p.Gly405Arg)
c.1210G>C (p.Gly404Arg)
c.1117G>C (p.Gly373Arg)
c.1072G>C (p.Gly358Arg)
 gnomAD v4
2g.127048564C>TCA348373459BIN1c.1327G>A (p.Gly443Ser)
c.1744G>A (p.Gly582Ser)
c.1456G>A (p.Gly486Ser)
c.1519G>A (p.Gly507Ser)
c.1192G>A (p.Gly398Ser)
c.1483G>A (p.Gly495Ser)
c.1615G>A (p.Gly539Ser)
c.1237G>A (p.Gly413Ser)
c.1411G>A (p.Gly471Ser)
c.1390G>A (p.Gly464Ser)
c.1282G>A (p.Gly428Ser)
n.4610G>A
c.1789G>A (p.Gly597Ser)
c.1696G>A (p.Gly566Ser)
c.1651G>A (p.Gly551Ser)
c.1624G>A (p.Gly542Ser)
c.1375G>A (p.Gly459Ser)
c.1120G>A (p.Gly374Ser)
c.1657G>A (p.Gly553Ser)
c.1579G>A (p.Gly527Ser)
c.1549G>A (p.Gly517Ser)
c.1528G>A (p.Gly510Ser)
c.1504G>A (p.Gly502Ser)
c.1459G>A (p.Gly487Ser)
c.1420G>A (p.Gly474Ser)
c.1330G>A (p.Gly444Ser)
c.1285G>A (p.Gly429Ser)
c.1708G>A (p.Gly570Ser)
c.1663G>A (p.Gly555Ser)
c.1717G>A (p.Gly573Ser)
c.1414G>A (p.Gly472Ser)
c.1321G>A (p.Gly441Ser)
c.1318G>A (p.Gly440Ser)
c.1249G>A (p.Gly417Ser)
c.1213G>A (p.Gly405Ser)
c.1210G>A (p.Gly404Ser)
c.1117G>A (p.Gly373Ser)
c.1072G>A (p.Gly358Ser)
2g.127048565A>CCA428593652BIN1c.1326T>G (p.Arg442=)
c.1743T>G (p.Arg581=)
c.1455T>G (p.Arg485=)
c.1518T>G (p.Arg506=)
c.1191T>G (p.Arg397=)
c.1482T>G (p.Arg494=)
c.1614T>G (p.Arg538=)
c.1236T>G (p.Arg412=)
c.1410T>G (p.Arg470=)
c.1389T>G (p.Arg463=)
c.1281T>G (p.Arg427=)
n.4609T>G
c.1788T>G (p.Arg596=)
c.1695T>G (p.Arg565=)
c.1650T>G (p.Arg550=)
c.1623T>G (p.Arg541=)
c.1374T>G (p.Arg458=)
c.1119T>G (p.Arg373=)
c.1656T>G (p.Arg552=)
c.1578T>G (p.Arg526=)
c.1548T>G (p.Arg516=)
c.1527T>G (p.Arg509=)
c.1503T>G (p.Arg501=)
c.1458T>G (p.Arg486=)
c.1419T>G (p.Arg473=)
c.1329T>G (p.Arg443=)
c.1284T>G (p.Arg428=)
c.1707T>G (p.Arg569=)
c.1662T>G (p.Arg554=)
c.1716T>G (p.Arg572=)
c.1413T>G (p.Arg471=)
c.1320T>G (p.Arg440=)
c.1317T>G (p.Arg439=)
c.1248T>G (p.Arg416=)
c.1212T>G (p.Arg404=)
c.1209T>G (p.Arg403=)
c.1116T>G (p.Arg372=)
c.1071T>G (p.Arg357=)
2g.127048565A>GCA428593653BIN1c.1326T>C (p.Arg442=)
c.1743T>C (p.Arg581=)
c.1455T>C (p.Arg485=)
c.1518T>C (p.Arg506=)
c.1191T>C (p.Arg397=)
c.1482T>C (p.Arg494=)
c.1614T>C (p.Arg538=)
c.1236T>C (p.Arg412=)
c.1410T>C (p.Arg470=)
c.1389T>C (p.Arg463=)
c.1281T>C (p.Arg427=)
n.4609T>C
c.1788T>C (p.Arg596=)
c.1695T>C (p.Arg565=)
c.1650T>C (p.Arg550=)
c.1623T>C (p.Arg541=)
c.1374T>C (p.Arg458=)
c.1119T>C (p.Arg373=)
c.1656T>C (p.Arg552=)
c.1578T>C (p.Arg526=)
c.1548T>C (p.Arg516=)
c.1527T>C (p.Arg509=)
c.1503T>C (p.Arg501=)
c.1458T>C (p.Arg486=)
c.1419T>C (p.Arg473=)
c.1329T>C (p.Arg443=)
c.1284T>C (p.Arg428=)
c.1707T>C (p.Arg569=)
c.1662T>C (p.Arg554=)
c.1716T>C (p.Arg572=)
c.1413T>C (p.Arg471=)
c.1320T>C (p.Arg440=)
c.1317T>C (p.Arg439=)
c.1248T>C (p.Arg416=)
c.1212T>C (p.Arg404=)
c.1209T>C (p.Arg403=)
c.1116T>C (p.Arg372=)
c.1071T>C (p.Arg357=)
 dbSNP
2g.127048565A>TCA428593654BIN1c.1326T>A (p.Arg442=)
c.1743T>A (p.Arg581=)
c.1455T>A (p.Arg485=)
c.1518T>A (p.Arg506=)
c.1191T>A (p.Arg397=)
c.1482T>A (p.Arg494=)
c.1614T>A (p.Arg538=)
c.1236T>A (p.Arg412=)
c.1410T>A (p.Arg470=)
c.1389T>A (p.Arg463=)
c.1281T>A (p.Arg427=)
n.4609T>A
c.1788T>A (p.Arg596=)
c.1695T>A (p.Arg565=)
c.1650T>A (p.Arg550=)
c.1623T>A (p.Arg541=)
c.1374T>A (p.Arg458=)
c.1119T>A (p.Arg373=)
c.1656T>A (p.Arg552=)
c.1578T>A (p.Arg526=)
c.1548T>A (p.Arg516=)
c.1527T>A (p.Arg509=)
c.1503T>A (p.Arg501=)
c.1458T>A (p.Arg486=)
c.1419T>A (p.Arg473=)
c.1329T>A (p.Arg443=)
c.1284T>A (p.Arg428=)
c.1707T>A (p.Arg569=)
c.1662T>A (p.Arg554=)
c.1716T>A (p.Arg572=)
c.1413T>A (p.Arg471=)
c.1320T>A (p.Arg440=)
c.1317T>A (p.Arg439=)
c.1248T>A (p.Arg416=)
c.1212T>A (p.Arg404=)
c.1209T>A (p.Arg403=)
c.1116T>A (p.Arg372=)
c.1071T>A (p.Arg357=)
2g.127048566C>ACA348373461BIN1c.1325G>T (p.Arg442Leu)
c.1742G>T (p.Arg581Leu)
c.1454G>T (p.Arg485Leu)
c.1517G>T (p.Arg506Leu)
c.1190G>T (p.Arg397Leu)
c.1481G>T (p.Arg494Leu)
c.1613G>T (p.Arg538Leu)
c.1235G>T (p.Arg412Leu)
c.1409G>T (p.Arg470Leu)
c.1388G>T (p.Arg463Leu)
c.1280G>T (p.Arg427Leu)
n.4608G>T
c.1787G>T (p.Arg596Leu)
c.1694G>T (p.Arg565Leu)
c.1649G>T (p.Arg550Leu)
c.1622G>T (p.Arg541Leu)
c.1373G>T (p.Arg458Leu)
c.1118G>T (p.Arg373Leu)
c.1655G>T (p.Arg552Leu)
c.1577G>T (p.Arg526Leu)
c.1547G>T (p.Arg516Leu)
c.1526G>T (p.Arg509Leu)
c.1502G>T (p.Arg501Leu)
c.1457G>T (p.Arg486Leu)
c.1418G>T (p.Arg473Leu)
c.1328G>T (p.Arg443Leu)
c.1283G>T (p.Arg428Leu)
c.1706G>T (p.Arg569Leu)
c.1661G>T (p.Arg554Leu)
c.1715G>T (p.Arg572Leu)
c.1412G>T (p.Arg471Leu)
c.1319G>T (p.Arg440Leu)
c.1316G>T (p.Arg439Leu)
c.1247G>T (p.Arg416Leu)
c.1211G>T (p.Arg404Leu)
c.1208G>T (p.Arg403Leu)
c.1115G>T (p.Arg372Leu)
c.1070G>T (p.Arg357Leu)
2g.127048566C=CA1286710717BIN1c.1325G= (p.Arg442=)
c.1742G= (p.Arg581=)
c.1454G= (p.Arg485=)
c.1517G= (p.Arg506=)
c.1190G= (p.Arg397=)
c.1481G= (p.Arg494=)
c.1613G= (p.Arg538=)
c.1235G= (p.Arg412=)
c.1409G= (p.Arg470=)
c.1388G= (p.Arg463=)
c.1280G= (p.Arg427=)
n.4608G=
c.1787G= (p.Arg596=)
c.1694G= (p.Arg565=)
c.1649G= (p.Arg550=)
c.1622G= (p.Arg541=)
c.1373G= (p.Arg458=)
c.1118G= (p.Arg373=)
c.1655G= (p.Arg552=)
c.1577G= (p.Arg526=)
c.1547G= (p.Arg516=)
c.1526G= (p.Arg509=)
c.1502G= (p.Arg501=)
c.1457G= (p.Arg486=)
c.1418G= (p.Arg473=)
c.1328G= (p.Arg443=)
c.1283G= (p.Arg428=)
c.1706G= (p.Arg569=)
c.1661G= (p.Arg554=)
c.1715G= (p.Arg572=)
c.1412G= (p.Arg471=)
c.1319G= (p.Arg440=)
c.1316G= (p.Arg439=)
c.1247G= (p.Arg416=)
c.1211G= (p.Arg404=)
c.1208G= (p.Arg403=)
c.1115G= (p.Arg372=)
c.1070G= (p.Arg357=)
2g.127048566C>GCA348373462BIN1c.1325G>C (p.Arg442Pro)
c.1742G>C (p.Arg581Pro)
c.1454G>C (p.Arg485Pro)
c.1517G>C (p.Arg506Pro)
c.1190G>C (p.Arg397Pro)
c.1481G>C (p.Arg494Pro)
c.1613G>C (p.Arg538Pro)
c.1235G>C (p.Arg412Pro)
c.1409G>C (p.Arg470Pro)
c.1388G>C (p.Arg463Pro)
c.1280G>C (p.Arg427Pro)
n.4608G>C
c.1787G>C (p.Arg596Pro)
c.1694G>C (p.Arg565Pro)
c.1649G>C (p.Arg550Pro)
c.1622G>C (p.Arg541Pro)
c.1373G>C (p.Arg458Pro)
c.1118G>C (p.Arg373Pro)
c.1655G>C (p.Arg552Pro)
c.1577G>C (p.Arg526Pro)
c.1547G>C (p.Arg516Pro)
c.1526G>C (p.Arg509Pro)
c.1502G>C (p.Arg501Pro)
c.1457G>C (p.Arg486Pro)
c.1418G>C (p.Arg473Pro)
c.1328G>C (p.Arg443Pro)
c.1283G>C (p.Arg428Pro)
c.1706G>C (p.Arg569Pro)
c.1661G>C (p.Arg554Pro)
c.1715G>C (p.Arg572Pro)
c.1412G>C (p.Arg471Pro)
c.1319G>C (p.Arg440Pro)
c.1316G>C (p.Arg439Pro)
c.1247G>C (p.Arg416Pro)
c.1211G>C (p.Arg404Pro)
c.1208G>C (p.Arg403Pro)
c.1115G>C (p.Arg372Pro)
c.1070G>C (p.Arg357Pro)
2g.127048566C>TCA348373464BIN1c.1325G>A (p.Arg442His)
c.1742G>A (p.Arg581His)
c.1454G>A (p.Arg485His)
c.1517G>A (p.Arg506His)
c.1190G>A (p.Arg397His)
c.1481G>A (p.Arg494His)
c.1613G>A (p.Arg538His)
c.1235G>A (p.Arg412His)
c.1409G>A (p.Arg470His)
c.1388G>A (p.Arg463His)
c.1280G>A (p.Arg427His)
n.4608G>A
c.1787G>A (p.Arg596His)
c.1694G>A (p.Arg565His)
c.1649G>A (p.Arg550His)
c.1622G>A (p.Arg541His)
c.1373G>A (p.Arg458His)
c.1118G>A (p.Arg373His)
c.1655G>A (p.Arg552His)
c.1577G>A (p.Arg526His)
c.1547G>A (p.Arg516His)
c.1526G>A (p.Arg509His)
c.1502G>A (p.Arg501His)
c.1457G>A (p.Arg486His)
c.1418G>A (p.Arg473His)
c.1328G>A (p.Arg443His)
c.1283G>A (p.Arg428His)
c.1706G>A (p.Arg569His)
c.1661G>A (p.Arg554His)
c.1715G>A (p.Arg572His)
c.1412G>A (p.Arg471His)
c.1319G>A (p.Arg440His)
c.1316G>A (p.Arg439His)
c.1247G>A (p.Arg416His)
c.1211G>A (p.Arg404His)
c.1208G>A (p.Arg403His)
c.1115G>A (p.Arg372His)
c.1070G>A (p.Arg357His)
 dbSNP gnomAD v2 gnomAD v4
2g.127048567G>ACA1856928BIN1c.1324C>T (p.Arg442Cys)
c.1741C>T (p.Arg581Cys)
c.1453C>T (p.Arg485Cys)
c.1516C>T (p.Arg506Cys)
c.1189C>T (p.Arg397Cys)
c.1480C>T (p.Arg494Cys)
c.1612C>T (p.Arg538Cys)
c.1234C>T (p.Arg412Cys)
c.1408C>T (p.Arg470Cys)
c.1387C>T (p.Arg463Cys)
c.1279C>T (p.Arg427Cys)
n.4607C>T
c.1786C>T (p.Arg596Cys)
c.1693C>T (p.Arg565Cys)
c.1648C>T (p.Arg550Cys)
c.1621C>T (p.Arg541Cys)
c.1372C>T (p.Arg458Cys)
c.1117C>T (p.Arg373Cys)
c.1654C>T (p.Arg552Cys)
c.1576C>T (p.Arg526Cys)
c.1546C>T (p.Arg516Cys)
c.1525C>T (p.Arg509Cys)
c.1501C>T (p.Arg501Cys)
c.1456C>T (p.Arg486Cys)
c.1417C>T (p.Arg473Cys)
c.1327C>T (p.Arg443Cys)
c.1282C>T (p.Arg428Cys)
c.1705C>T (p.Arg569Cys)
c.1660C>T (p.Arg554Cys)
c.1714C>T (p.Arg572Cys)
c.1411C>T (p.Arg471Cys)
c.1318C>T (p.Arg440Cys)
c.1315C>T (p.Arg439Cys)
c.1246C>T (p.Arg416Cys)
c.1210C>T (p.Arg404Cys)
c.1207C>T (p.Arg403Cys)
c.1114C>T (p.Arg372Cys)
c.1069C>T (p.Arg357Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048567G>CCA348373468BIN1c.1324C>G (p.Arg442Gly)
c.1741C>G (p.Arg581Gly)
c.1453C>G (p.Arg485Gly)
c.1516C>G (p.Arg506Gly)
c.1189C>G (p.Arg397Gly)
c.1480C>G (p.Arg494Gly)
c.1612C>G (p.Arg538Gly)
c.1234C>G (p.Arg412Gly)
c.1408C>G (p.Arg470Gly)
c.1387C>G (p.Arg463Gly)
c.1279C>G (p.Arg427Gly)
n.4607C>G
c.1786C>G (p.Arg596Gly)
c.1693C>G (p.Arg565Gly)
c.1648C>G (p.Arg550Gly)
c.1621C>G (p.Arg541Gly)
c.1372C>G (p.Arg458Gly)
c.1117C>G (p.Arg373Gly)
c.1654C>G (p.Arg552Gly)
c.1576C>G (p.Arg526Gly)
c.1546C>G (p.Arg516Gly)
c.1525C>G (p.Arg509Gly)
c.1501C>G (p.Arg501Gly)
c.1456C>G (p.Arg486Gly)
c.1417C>G (p.Arg473Gly)
c.1327C>G (p.Arg443Gly)
c.1282C>G (p.Arg428Gly)
c.1705C>G (p.Arg569Gly)
c.1660C>G (p.Arg554Gly)
c.1714C>G (p.Arg572Gly)
c.1411C>G (p.Arg471Gly)
c.1318C>G (p.Arg440Gly)
c.1315C>G (p.Arg439Gly)
c.1246C>G (p.Arg416Gly)
c.1210C>G (p.Arg404Gly)
c.1207C>G (p.Arg403Gly)
c.1114C>G (p.Arg372Gly)
c.1069C>G (p.Arg357Gly)
2g.127048567G=CA1286710718BIN1c.1324C= (p.Arg442=)
c.1741C= (p.Arg581=)
c.1453C= (p.Arg485=)
c.1516C= (p.Arg506=)
c.1189C= (p.Arg397=)
c.1480C= (p.Arg494=)
c.1612C= (p.Arg538=)
c.1234C= (p.Arg412=)
c.1408C= (p.Arg470=)
c.1387C= (p.Arg463=)
c.1279C= (p.Arg427=)
n.4607C=
c.1786C= (p.Arg596=)
c.1693C= (p.Arg565=)
c.1648C= (p.Arg550=)
c.1621C= (p.Arg541=)
c.1372C= (p.Arg458=)
c.1117C= (p.Arg373=)
c.1654C= (p.Arg552=)
c.1576C= (p.Arg526=)
c.1546C= (p.Arg516=)
c.1525C= (p.Arg509=)
c.1501C= (p.Arg501=)
c.1456C= (p.Arg486=)
c.1417C= (p.Arg473=)
c.1327C= (p.Arg443=)
c.1282C= (p.Arg428=)
c.1705C= (p.Arg569=)
c.1660C= (p.Arg554=)
c.1714C= (p.Arg572=)
c.1411C= (p.Arg471=)
c.1318C= (p.Arg440=)
c.1315C= (p.Arg439=)
c.1246C= (p.Arg416=)
c.1210C= (p.Arg404=)
c.1207C= (p.Arg403=)
c.1114C= (p.Arg372=)
c.1069C= (p.Arg357=)
2g.127048567G>TCA348373471BIN1c.1324C>A (p.Arg442Ser)
c.1741C>A (p.Arg581Ser)
c.1453C>A (p.Arg485Ser)
c.1516C>A (p.Arg506Ser)
c.1189C>A (p.Arg397Ser)
c.1480C>A (p.Arg494Ser)
c.1612C>A (p.Arg538Ser)
c.1234C>A (p.Arg412Ser)
c.1408C>A (p.Arg470Ser)
c.1387C>A (p.Arg463Ser)
c.1279C>A (p.Arg427Ser)
n.4607C>A
c.1786C>A (p.Arg596Ser)
c.1693C>A (p.Arg565Ser)
c.1648C>A (p.Arg550Ser)
c.1621C>A (p.Arg541Ser)
c.1372C>A (p.Arg458Ser)
c.1117C>A (p.Arg373Ser)
c.1654C>A (p.Arg552Ser)
c.1576C>A (p.Arg526Ser)
c.1546C>A (p.Arg516Ser)
c.1525C>A (p.Arg509Ser)
c.1501C>A (p.Arg501Ser)
c.1456C>A (p.Arg486Ser)
c.1417C>A (p.Arg473Ser)
c.1327C>A (p.Arg443Ser)
c.1282C>A (p.Arg428Ser)
c.1705C>A (p.Arg569Ser)
c.1660C>A (p.Arg554Ser)
c.1714C>A (p.Arg572Ser)
c.1411C>A (p.Arg471Ser)
c.1318C>A (p.Arg440Ser)
c.1315C>A (p.Arg439Ser)
c.1246C>A (p.Arg416Ser)
c.1210C>A (p.Arg404Ser)
c.1207C>A (p.Arg403Ser)
c.1114C>A (p.Arg372Ser)
c.1069C>A (p.Arg357Ser)
2g.127048568G>ACA1856929BIN1c.1323C>T (p.Cys441=)
c.1740C>T (p.Cys580=)
c.1452C>T (p.Cys484=)
c.1515C>T (p.Cys505=)
c.1188C>T (p.Cys396=)
c.1479C>T (p.Cys493=)
c.1611C>T (p.Cys537=)
c.1233C>T (p.Cys411=)
c.1407C>T (p.Cys469=)
c.1386C>T (p.Cys462=)
c.1278C>T (p.Cys426=)
n.4606C>T
c.1785C>T (p.Cys595=)
c.1692C>T (p.Cys564=)
c.1647C>T (p.Cys549=)
c.1620C>T (p.Cys540=)
c.1371C>T (p.Cys457=)
c.1116C>T (p.Cys372=)
c.1653C>T (p.Cys551=)
c.1575C>T (p.Cys525=)
c.1545C>T (p.Cys515=)
c.1524C>T (p.Cys508=)
c.1500C>T (p.Cys500=)
c.1455C>T (p.Cys485=)
c.1416C>T (p.Cys472=)
c.1326C>T (p.Cys442=)
c.1281C>T (p.Cys427=)
c.1704C>T (p.Cys568=)
c.1659C>T (p.Cys553=)
c.1713C>T (p.Cys571=)
c.1410C>T (p.Cys470=)
c.1317C>T (p.Cys439=)
c.1314C>T (p.Cys438=)
c.1245C>T (p.Cys415=)
c.1209C>T (p.Cys403=)
c.1206C>T (p.Cys402=)
c.1113C>T (p.Cys371=)
c.1068C>T (p.Cys356=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048568G>CCA348373475BIN1c.1323C>G (p.Cys441Trp)
c.1740C>G (p.Cys580Trp)
c.1452C>G (p.Cys484Trp)
c.1515C>G (p.Cys505Trp)
c.1188C>G (p.Cys396Trp)
c.1479C>G (p.Cys493Trp)
c.1611C>G (p.Cys537Trp)
c.1233C>G (p.Cys411Trp)
c.1407C>G (p.Cys469Trp)
c.1386C>G (p.Cys462Trp)
c.1278C>G (p.Cys426Trp)
n.4606C>G
c.1785C>G (p.Cys595Trp)
c.1692C>G (p.Cys564Trp)
c.1647C>G (p.Cys549Trp)
c.1620C>G (p.Cys540Trp)
c.1371C>G (p.Cys457Trp)
c.1116C>G (p.Cys372Trp)
c.1653C>G (p.Cys551Trp)
c.1575C>G (p.Cys525Trp)
c.1545C>G (p.Cys515Trp)
c.1524C>G (p.Cys508Trp)
c.1500C>G (p.Cys500Trp)
c.1455C>G (p.Cys485Trp)
c.1416C>G (p.Cys472Trp)
c.1326C>G (p.Cys442Trp)
c.1281C>G (p.Cys427Trp)
c.1704C>G (p.Cys568Trp)
c.1659C>G (p.Cys553Trp)
c.1713C>G (p.Cys571Trp)
c.1410C>G (p.Cys470Trp)
c.1317C>G (p.Cys439Trp)
c.1314C>G (p.Cys438Trp)
c.1245C>G (p.Cys415Trp)
c.1209C>G (p.Cys403Trp)
c.1206C>G (p.Cys402Trp)
c.1113C>G (p.Cys371Trp)
c.1068C>G (p.Cys356Trp)
2g.127048568G=CA1286710719BIN1c.1323C= (p.Cys441=)
c.1740C= (p.Cys580=)
c.1452C= (p.Cys484=)
c.1515C= (p.Cys505=)
c.1188C= (p.Cys396=)
c.1479C= (p.Cys493=)
c.1611C= (p.Cys537=)
c.1233C= (p.Cys411=)
c.1407C= (p.Cys469=)
c.1386C= (p.Cys462=)
c.1278C= (p.Cys426=)
n.4606C=
c.1785C= (p.Cys595=)
c.1692C= (p.Cys564=)
c.1647C= (p.Cys549=)
c.1620C= (p.Cys540=)
c.1371C= (p.Cys457=)
c.1116C= (p.Cys372=)
c.1653C= (p.Cys551=)
c.1575C= (p.Cys525=)
c.1545C= (p.Cys515=)
c.1524C= (p.Cys508=)
c.1500C= (p.Cys500=)
c.1455C= (p.Cys485=)
c.1416C= (p.Cys472=)
c.1326C= (p.Cys442=)
c.1281C= (p.Cys427=)
c.1704C= (p.Cys568=)
c.1659C= (p.Cys553=)
c.1713C= (p.Cys571=)
c.1410C= (p.Cys470=)
c.1317C= (p.Cys439=)
c.1314C= (p.Cys438=)
c.1245C= (p.Cys415=)
c.1209C= (p.Cys403=)
c.1206C= (p.Cys402=)
c.1113C= (p.Cys371=)
c.1068C= (p.Cys356=)
2g.127048568G>TCA348373482BIN1c.1323C>A (p.Cys441Ter)
c.1740C>A (p.Cys580Ter)
c.1452C>A (p.Cys484Ter)
c.1515C>A (p.Cys505Ter)
c.1188C>A (p.Cys396Ter)
c.1479C>A (p.Cys493Ter)
c.1611C>A (p.Cys537Ter)
c.1233C>A (p.Cys411Ter)
c.1407C>A (p.Cys469Ter)
c.1386C>A (p.Cys462Ter)
c.1278C>A (p.Cys426Ter)
n.4606C>A
c.1785C>A (p.Cys595Ter)
c.1692C>A (p.Cys564Ter)
c.1647C>A (p.Cys549Ter)
c.1620C>A (p.Cys540Ter)
c.1371C>A (p.Cys457Ter)
c.1116C>A (p.Cys372Ter)
c.1653C>A (p.Cys551Ter)
c.1575C>A (p.Cys525Ter)
c.1545C>A (p.Cys515Ter)
c.1524C>A (p.Cys508Ter)
c.1500C>A (p.Cys500Ter)
c.1455C>A (p.Cys485Ter)
c.1416C>A (p.Cys472Ter)
c.1326C>A (p.Cys442Ter)
c.1281C>A (p.Cys427Ter)
c.1704C>A (p.Cys568Ter)
c.1659C>A (p.Cys553Ter)
c.1713C>A (p.Cys571Ter)
c.1410C>A (p.Cys470Ter)
c.1317C>A (p.Cys439Ter)
c.1314C>A (p.Cys438Ter)
c.1245C>A (p.Cys415Ter)
c.1209C>A (p.Cys403Ter)
c.1206C>A (p.Cys402Ter)
c.1113C>A (p.Cys371Ter)
c.1068C>A (p.Cys356Ter)
2g.127048569C>ACA348373487BIN1c.1322G>T (p.Cys441Phe)
c.1739G>T (p.Cys580Phe)
c.1451G>T (p.Cys484Phe)
c.1514G>T (p.Cys505Phe)
c.1187G>T (p.Cys396Phe)
c.1478G>T (p.Cys493Phe)
c.1610G>T (p.Cys537Phe)
c.1232G>T (p.Cys411Phe)
c.1406G>T (p.Cys469Phe)
c.1385G>T (p.Cys462Phe)
c.1277G>T (p.Cys426Phe)
n.4605G>T
c.1784G>T (p.Cys595Phe)
c.1691G>T (p.Cys564Phe)
c.1646G>T (p.Cys549Phe)
c.1619G>T (p.Cys540Phe)
c.1370G>T (p.Cys457Phe)
c.1115G>T (p.Cys372Phe)
c.1652G>T (p.Cys551Phe)
c.1574G>T (p.Cys525Phe)
c.1544G>T (p.Cys515Phe)
c.1523G>T (p.Cys508Phe)
c.1499G>T (p.Cys500Phe)
c.1454G>T (p.Cys485Phe)
c.1415G>T (p.Cys472Phe)
c.1325G>T (p.Cys442Phe)
c.1280G>T (p.Cys427Phe)
c.1703G>T (p.Cys568Phe)
c.1658G>T (p.Cys553Phe)
c.1712G>T (p.Cys571Phe)
c.1409G>T (p.Cys470Phe)
c.1316G>T (p.Cys439Phe)
c.1313G>T (p.Cys438Phe)
c.1244G>T (p.Cys415Phe)
c.1208G>T (p.Cys403Phe)
c.1205G>T (p.Cys402Phe)
c.1112G>T (p.Cys371Phe)
c.1067G>T (p.Cys356Phe)
2g.127048569C>GCA348373486BIN1c.1322G>C (p.Cys441Ser)
c.1739G>C (p.Cys580Ser)
c.1451G>C (p.Cys484Ser)
c.1514G>C (p.Cys505Ser)
c.1187G>C (p.Cys396Ser)
c.1478G>C (p.Cys493Ser)
c.1610G>C (p.Cys537Ser)
c.1232G>C (p.Cys411Ser)
c.1406G>C (p.Cys469Ser)
c.1385G>C (p.Cys462Ser)
c.1277G>C (p.Cys426Ser)
n.4605G>C
c.1784G>C (p.Cys595Ser)
c.1691G>C (p.Cys564Ser)
c.1646G>C (p.Cys549Ser)
c.1619G>C (p.Cys540Ser)
c.1370G>C (p.Cys457Ser)
c.1115G>C (p.Cys372Ser)
c.1652G>C (p.Cys551Ser)
c.1574G>C (p.Cys525Ser)
c.1544G>C (p.Cys515Ser)
c.1523G>C (p.Cys508Ser)
c.1499G>C (p.Cys500Ser)
c.1454G>C (p.Cys485Ser)
c.1415G>C (p.Cys472Ser)
c.1325G>C (p.Cys442Ser)
c.1280G>C (p.Cys427Ser)
c.1703G>C (p.Cys568Ser)
c.1658G>C (p.Cys553Ser)
c.1712G>C (p.Cys571Ser)
c.1409G>C (p.Cys470Ser)
c.1316G>C (p.Cys439Ser)
c.1313G>C (p.Cys438Ser)
c.1244G>C (p.Cys415Ser)
c.1208G>C (p.Cys403Ser)
c.1205G>C (p.Cys402Ser)
c.1112G>C (p.Cys371Ser)
c.1067G>C (p.Cys356Ser)
2g.127048569C>TCA348373484BIN1c.1322G>A (p.Cys441Tyr)
c.1739G>A (p.Cys580Tyr)
c.1451G>A (p.Cys484Tyr)
c.1514G>A (p.Cys505Tyr)
c.1187G>A (p.Cys396Tyr)
c.1478G>A (p.Cys493Tyr)
c.1610G>A (p.Cys537Tyr)
c.1232G>A (p.Cys411Tyr)
c.1406G>A (p.Cys469Tyr)
c.1385G>A (p.Cys462Tyr)
c.1277G>A (p.Cys426Tyr)
n.4605G>A
c.1784G>A (p.Cys595Tyr)
c.1691G>A (p.Cys564Tyr)
c.1646G>A (p.Cys549Tyr)
c.1619G>A (p.Cys540Tyr)
c.1370G>A (p.Cys457Tyr)
c.1115G>A (p.Cys372Tyr)
c.1652G>A (p.Cys551Tyr)
c.1574G>A (p.Cys525Tyr)
c.1544G>A (p.Cys515Tyr)
c.1523G>A (p.Cys508Tyr)
c.1499G>A (p.Cys500Tyr)
c.1454G>A (p.Cys485Tyr)
c.1415G>A (p.Cys472Tyr)
c.1325G>A (p.Cys442Tyr)
c.1280G>A (p.Cys427Tyr)
c.1703G>A (p.Cys568Tyr)
c.1658G>A (p.Cys553Tyr)
c.1712G>A (p.Cys571Tyr)
c.1409G>A (p.Cys470Tyr)
c.1316G>A (p.Cys439Tyr)
c.1313G>A (p.Cys438Tyr)
c.1244G>A (p.Cys415Tyr)
c.1208G>A (p.Cys403Tyr)
c.1205G>A (p.Cys402Tyr)
c.1112G>A (p.Cys371Tyr)
c.1067G>A (p.Cys356Tyr)
2g.127048570A>CCA348373488BIN1c.1321T>G (p.Cys441Gly)
c.1738T>G (p.Cys580Gly)
c.1450T>G (p.Cys484Gly)
c.1513T>G (p.Cys505Gly)
c.1186T>G (p.Cys396Gly)
c.1477T>G (p.Cys493Gly)
c.1609T>G (p.Cys537Gly)
c.1231T>G (p.Cys411Gly)
c.1405T>G (p.Cys469Gly)
c.1384T>G (p.Cys462Gly)
c.1276T>G (p.Cys426Gly)
n.4604T>G
c.1783T>G (p.Cys595Gly)
c.1690T>G (p.Cys564Gly)
c.1645T>G (p.Cys549Gly)
c.1618T>G (p.Cys540Gly)
c.1369T>G (p.Cys457Gly)
c.1114T>G (p.Cys372Gly)
c.1651T>G (p.Cys551Gly)
c.1573T>G (p.Cys525Gly)
c.1543T>G (p.Cys515Gly)
c.1522T>G (p.Cys508Gly)
c.1498T>G (p.Cys500Gly)
c.1453T>G (p.Cys485Gly)
c.1414T>G (p.Cys472Gly)
c.1324T>G (p.Cys442Gly)
c.1279T>G (p.Cys427Gly)
c.1702T>G (p.Cys568Gly)
c.1657T>G (p.Cys553Gly)
c.1711T>G (p.Cys571Gly)
c.1408T>G (p.Cys470Gly)
c.1315T>G (p.Cys439Gly)
c.1312T>G (p.Cys438Gly)
c.1243T>G (p.Cys415Gly)
c.1207T>G (p.Cys403Gly)
c.1204T>G (p.Cys402Gly)
c.1111T>G (p.Cys371Gly)
c.1066T>G (p.Cys356Gly)
2g.127048570A>GCA348373489BIN1c.1321T>C (p.Cys441Arg)
c.1738T>C (p.Cys580Arg)
c.1450T>C (p.Cys484Arg)
c.1513T>C (p.Cys505Arg)
c.1186T>C (p.Cys396Arg)
c.1477T>C (p.Cys493Arg)
c.1609T>C (p.Cys537Arg)
c.1231T>C (p.Cys411Arg)
c.1405T>C (p.Cys469Arg)
c.1384T>C (p.Cys462Arg)
c.1276T>C (p.Cys426Arg)
n.4604T>C
c.1783T>C (p.Cys595Arg)
c.1690T>C (p.Cys564Arg)
c.1645T>C (p.Cys549Arg)
c.1618T>C (p.Cys540Arg)
c.1369T>C (p.Cys457Arg)
c.1114T>C (p.Cys372Arg)
c.1651T>C (p.Cys551Arg)
c.1573T>C (p.Cys525Arg)
c.1543T>C (p.Cys515Arg)
c.1522T>C (p.Cys508Arg)
c.1498T>C (p.Cys500Arg)
c.1453T>C (p.Cys485Arg)
c.1414T>C (p.Cys472Arg)
c.1324T>C (p.Cys442Arg)
c.1279T>C (p.Cys427Arg)
c.1702T>C (p.Cys568Arg)
c.1657T>C (p.Cys553Arg)
c.1711T>C (p.Cys571Arg)
c.1408T>C (p.Cys470Arg)
c.1315T>C (p.Cys439Arg)
c.1312T>C (p.Cys438Arg)
c.1243T>C (p.Cys415Arg)
c.1207T>C (p.Cys403Arg)
c.1204T>C (p.Cys402Arg)
c.1111T>C (p.Cys371Arg)
c.1066T>C (p.Cys356Arg)
2g.127048570A>TCA348373491BIN1c.1321T>A (p.Cys441Ser)
c.1738T>A (p.Cys580Ser)
c.1450T>A (p.Cys484Ser)
c.1513T>A (p.Cys505Ser)
c.1186T>A (p.Cys396Ser)
c.1477T>A (p.Cys493Ser)
c.1609T>A (p.Cys537Ser)
c.1231T>A (p.Cys411Ser)
c.1405T>A (p.Cys469Ser)
c.1384T>A (p.Cys462Ser)
c.1276T>A (p.Cys426Ser)
n.4604T>A
c.1783T>A (p.Cys595Ser)
c.1690T>A (p.Cys564Ser)
c.1645T>A (p.Cys549Ser)
c.1618T>A (p.Cys540Ser)
c.1369T>A (p.Cys457Ser)
c.1114T>A (p.Cys372Ser)
c.1651T>A (p.Cys551Ser)
c.1573T>A (p.Cys525Ser)
c.1543T>A (p.Cys515Ser)
c.1522T>A (p.Cys508Ser)
c.1498T>A (p.Cys500Ser)
c.1453T>A (p.Cys485Ser)
c.1414T>A (p.Cys472Ser)
c.1324T>A (p.Cys442Ser)
c.1279T>A (p.Cys427Ser)
c.1702T>A (p.Cys568Ser)
c.1657T>A (p.Cys553Ser)
c.1711T>A (p.Cys571Ser)
c.1408T>A (p.Cys470Ser)
c.1315T>A (p.Cys439Ser)
c.1312T>A (p.Cys438Ser)
c.1243T>A (p.Cys415Ser)
c.1207T>A (p.Cys403Ser)
c.1204T>A (p.Cys402Ser)
c.1111T>A (p.Cys371Ser)
c.1066T>A (p.Cys356Ser)
2g.127048571C>ACA348373493BIN1c.1320G>T (p.Lys440Asn)
c.1737G>T (p.Lys579Asn)
c.1449G>T (p.Lys483Asn)
c.1512G>T (p.Lys504Asn)
c.1185G>T (p.Lys395Asn)
c.1476G>T (p.Lys492Asn)
c.1608G>T (p.Lys536Asn)
c.1230G>T (p.Lys410Asn)
c.1404G>T (p.Lys468Asn)
c.1383G>T (p.Lys461Asn)
c.1275G>T (p.Lys425Asn)
n.4603G>T
c.1782G>T (p.Lys594Asn)
c.1689G>T (p.Lys563Asn)
c.1644G>T (p.Lys548Asn)
c.1617G>T (p.Lys539Asn)
c.1368G>T (p.Lys456Asn)
c.1113G>T (p.Lys371Asn)
c.1650G>T (p.Lys550Asn)
c.1572G>T (p.Lys524Asn)
c.1542G>T (p.Lys514Asn)
c.1521G>T (p.Lys507Asn)
c.1497G>T (p.Lys499Asn)
c.1452G>T (p.Lys484Asn)
c.1413G>T (p.Lys471Asn)
c.1323G>T (p.Lys441Asn)
c.1278G>T (p.Lys426Asn)
c.1701G>T (p.Lys567Asn)
c.1656G>T (p.Lys552Asn)
c.1710G>T (p.Lys570Asn)
c.1407G>T (p.Lys469Asn)
c.1314G>T (p.Lys438Asn)
c.1311G>T (p.Lys437Asn)
c.1242G>T (p.Lys414Asn)
c.1206G>T (p.Lys402Asn)
c.1203G>T (p.Lys401Asn)
c.1110G>T (p.Lys370Asn)
c.1065G>T (p.Lys355Asn)
2g.127048571C=CA1286710720BIN1c.1320G= (p.Lys440=)
c.1737G= (p.Lys579=)
c.1449G= (p.Lys483=)
c.1512G= (p.Lys504=)
c.1185G= (p.Lys395=)
c.1476G= (p.Lys492=)
c.1608G= (p.Lys536=)
c.1230G= (p.Lys410=)
c.1404G= (p.Lys468=)
c.1383G= (p.Lys461=)
c.1275G= (p.Lys425=)
n.4603G=
c.1782G= (p.Lys594=)
c.1689G= (p.Lys563=)
c.1644G= (p.Lys548=)
c.1617G= (p.Lys539=)
c.1368G= (p.Lys456=)
c.1113G= (p.Lys371=)
c.1650G= (p.Lys550=)
c.1572G= (p.Lys524=)
c.1542G= (p.Lys514=)
c.1521G= (p.Lys507=)
c.1497G= (p.Lys499=)
c.1452G= (p.Lys484=)
c.1413G= (p.Lys471=)
c.1323G= (p.Lys441=)
c.1278G= (p.Lys426=)
c.1701G= (p.Lys567=)
c.1656G= (p.Lys552=)
c.1710G= (p.Lys570=)
c.1407G= (p.Lys469=)
c.1314G= (p.Lys438=)
c.1311G= (p.Lys437=)
c.1242G= (p.Lys414=)
c.1206G= (p.Lys402=)
c.1203G= (p.Lys401=)
c.1110G= (p.Lys370=)
c.1065G= (p.Lys355=)
2g.127048571C>GCA348373494BIN1c.1320G>C (p.Lys440Asn)
c.1737G>C (p.Lys579Asn)
c.1449G>C (p.Lys483Asn)
c.1512G>C (p.Lys504Asn)
c.1185G>C (p.Lys395Asn)
c.1476G>C (p.Lys492Asn)
c.1608G>C (p.Lys536Asn)
c.1230G>C (p.Lys410Asn)
c.1404G>C (p.Lys468Asn)
c.1383G>C (p.Lys461Asn)
c.1275G>C (p.Lys425Asn)
n.4603G>C
c.1782G>C (p.Lys594Asn)
c.1689G>C (p.Lys563Asn)
c.1644G>C (p.Lys548Asn)
c.1617G>C (p.Lys539Asn)
c.1368G>C (p.Lys456Asn)
c.1113G>C (p.Lys371Asn)
c.1650G>C (p.Lys550Asn)
c.1572G>C (p.Lys524Asn)
c.1542G>C (p.Lys514Asn)
c.1521G>C (p.Lys507Asn)
c.1497G>C (p.Lys499Asn)
c.1452G>C (p.Lys484Asn)
c.1413G>C (p.Lys471Asn)
c.1323G>C (p.Lys441Asn)
c.1278G>C (p.Lys426Asn)
c.1701G>C (p.Lys567Asn)
c.1656G>C (p.Lys552Asn)
c.1710G>C (p.Lys570Asn)
c.1407G>C (p.Lys469Asn)
c.1314G>C (p.Lys438Asn)
c.1311G>C (p.Lys437Asn)
c.1242G>C (p.Lys414Asn)
c.1206G>C (p.Lys402Asn)
c.1203G>C (p.Lys401Asn)
c.1110G>C (p.Lys370Asn)
c.1065G>C (p.Lys355Asn)
 dbSNP gnomAD v4
2g.127048571C>TCA428593657BIN1c.1320G>A (p.Lys440=)
c.1737G>A (p.Lys579=)
c.1449G>A (p.Lys483=)
c.1512G>A (p.Lys504=)
c.1185G>A (p.Lys395=)
c.1476G>A (p.Lys492=)
c.1608G>A (p.Lys536=)
c.1230G>A (p.Lys410=)
c.1404G>A (p.Lys468=)
c.1383G>A (p.Lys461=)
c.1275G>A (p.Lys425=)
n.4603G>A
c.1782G>A (p.Lys594=)
c.1689G>A (p.Lys563=)
c.1644G>A (p.Lys548=)
c.1617G>A (p.Lys539=)
c.1368G>A (p.Lys456=)
c.1113G>A (p.Lys371=)
c.1650G>A (p.Lys550=)
c.1572G>A (p.Lys524=)
c.1542G>A (p.Lys514=)
c.1521G>A (p.Lys507=)
c.1497G>A (p.Lys499=)
c.1452G>A (p.Lys484=)
c.1413G>A (p.Lys471=)
c.1323G>A (p.Lys441=)
c.1278G>A (p.Lys426=)
c.1701G>A (p.Lys567=)
c.1656G>A (p.Lys552=)
c.1710G>A (p.Lys570=)
c.1407G>A (p.Lys469=)
c.1314G>A (p.Lys438=)
c.1311G>A (p.Lys437=)
c.1242G>A (p.Lys414=)
c.1206G>A (p.Lys402=)
c.1203G>A (p.Lys401=)
c.1110G>A (p.Lys370=)
c.1065G>A (p.Lys355=)
 dbSNP
2g.127048572T>ACA348373500BIN1c.1319A>T (p.Lys440Met)
c.1736A>T (p.Lys579Met)
c.1448A>T (p.Lys483Met)
c.1511A>T (p.Lys504Met)
c.1184A>T (p.Lys395Met)
c.1475A>T (p.Lys492Met)
c.1607A>T (p.Lys536Met)
c.1229A>T (p.Lys410Met)
c.1403A>T (p.Lys468Met)
c.1382A>T (p.Lys461Met)
c.1274A>T (p.Lys425Met)
n.4602A>T
c.1781A>T (p.Lys594Met)
c.1688A>T (p.Lys563Met)
c.1643A>T (p.Lys548Met)
c.1616A>T (p.Lys539Met)
c.1367A>T (p.Lys456Met)
c.1112A>T (p.Lys371Met)
c.1649A>T (p.Lys550Met)
c.1571A>T (p.Lys524Met)
c.1541A>T (p.Lys514Met)
c.1520A>T (p.Lys507Met)
c.1496A>T (p.Lys499Met)
c.1451A>T (p.Lys484Met)
c.1412A>T (p.Lys471Met)
c.1322A>T (p.Lys441Met)
c.1277A>T (p.Lys426Met)
c.1700A>T (p.Lys567Met)
c.1655A>T (p.Lys552Met)
c.1709A>T (p.Lys570Met)
c.1406A>T (p.Lys469Met)
c.1313A>T (p.Lys438Met)
c.1310A>T (p.Lys437Met)
c.1241A>T (p.Lys414Met)
c.1205A>T (p.Lys402Met)
c.1202A>T (p.Lys401Met)
c.1109A>T (p.Lys370Met)
c.1064A>T (p.Lys355Met)
2g.127048572T>CCA348373501BIN1c.1319A>G (p.Lys440Arg)
c.1736A>G (p.Lys579Arg)
c.1448A>G (p.Lys483Arg)
c.1511A>G (p.Lys504Arg)
c.1184A>G (p.Lys395Arg)
c.1475A>G (p.Lys492Arg)
c.1607A>G (p.Lys536Arg)
c.1229A>G (p.Lys410Arg)
c.1403A>G (p.Lys468Arg)
c.1382A>G (p.Lys461Arg)
c.1274A>G (p.Lys425Arg)
n.4602A>G
c.1781A>G (p.Lys594Arg)
c.1688A>G (p.Lys563Arg)
c.1643A>G (p.Lys548Arg)
c.1616A>G (p.Lys539Arg)
c.1367A>G (p.Lys456Arg)
c.1112A>G (p.Lys371Arg)
c.1649A>G (p.Lys550Arg)
c.1571A>G (p.Lys524Arg)
c.1541A>G (p.Lys514Arg)
c.1520A>G (p.Lys507Arg)
c.1496A>G (p.Lys499Arg)
c.1451A>G (p.Lys484Arg)
c.1412A>G (p.Lys471Arg)
c.1322A>G (p.Lys441Arg)
c.1277A>G (p.Lys426Arg)
c.1700A>G (p.Lys567Arg)
c.1655A>G (p.Lys552Arg)
c.1709A>G (p.Lys570Arg)
c.1406A>G (p.Lys469Arg)
c.1313A>G (p.Lys438Arg)
c.1310A>G (p.Lys437Arg)
c.1241A>G (p.Lys414Arg)
c.1205A>G (p.Lys402Arg)
c.1202A>G (p.Lys401Arg)
c.1109A>G (p.Lys370Arg)
c.1064A>G (p.Lys355Arg)
2g.127048572T>GCA348373503BIN1c.1319A>C (p.Lys440Thr)
c.1736A>C (p.Lys579Thr)
c.1448A>C (p.Lys483Thr)
c.1511A>C (p.Lys504Thr)
c.1184A>C (p.Lys395Thr)
c.1475A>C (p.Lys492Thr)
c.1607A>C (p.Lys536Thr)
c.1229A>C (p.Lys410Thr)
c.1403A>C (p.Lys468Thr)
c.1382A>C (p.Lys461Thr)
c.1274A>C (p.Lys425Thr)
n.4602A>C
c.1781A>C (p.Lys594Thr)
c.1688A>C (p.Lys563Thr)
c.1643A>C (p.Lys548Thr)
c.1616A>C (p.Lys539Thr)
c.1367A>C (p.Lys456Thr)
c.1112A>C (p.Lys371Thr)
c.1649A>C (p.Lys550Thr)
c.1571A>C (p.Lys524Thr)
c.1541A>C (p.Lys514Thr)
c.1520A>C (p.Lys507Thr)
c.1496A>C (p.Lys499Thr)
c.1451A>C (p.Lys484Thr)
c.1412A>C (p.Lys471Thr)
c.1322A>C (p.Lys441Thr)
c.1277A>C (p.Lys426Thr)
c.1700A>C (p.Lys567Thr)
c.1655A>C (p.Lys552Thr)
c.1709A>C (p.Lys570Thr)
c.1406A>C (p.Lys469Thr)
c.1313A>C (p.Lys438Thr)
c.1310A>C (p.Lys437Thr)
c.1241A>C (p.Lys414Thr)
c.1205A>C (p.Lys402Thr)
c.1202A>C (p.Lys401Thr)
c.1109A>C (p.Lys370Thr)
c.1064A>C (p.Lys355Thr)
2g.127048573T>ACA348373505BIN1c.1318A>T (p.Lys440Ter)
c.1735A>T (p.Lys579Ter)
c.1447A>T (p.Lys483Ter)
c.1510A>T (p.Lys504Ter)
c.1183A>T (p.Lys395Ter)
c.1474A>T (p.Lys492Ter)
c.1606A>T (p.Lys536Ter)
c.1228A>T (p.Lys410Ter)
c.1402A>T (p.Lys468Ter)
c.1381A>T (p.Lys461Ter)
c.1273A>T (p.Lys425Ter)
n.4601A>T
c.1780A>T (p.Lys594Ter)
c.1687A>T (p.Lys563Ter)
c.1642A>T (p.Lys548Ter)
c.1615A>T (p.Lys539Ter)
c.1366A>T (p.Lys456Ter)
c.1111A>T (p.Lys371Ter)
c.1648A>T (p.Lys550Ter)
c.1570A>T (p.Lys524Ter)
c.1540A>T (p.Lys514Ter)
c.1519A>T (p.Lys507Ter)
c.1495A>T (p.Lys499Ter)
c.1450A>T (p.Lys484Ter)
c.1411A>T (p.Lys471Ter)
c.1321A>T (p.Lys441Ter)
c.1276A>T (p.Lys426Ter)
c.1699A>T (p.Lys567Ter)
c.1654A>T (p.Lys552Ter)
c.1708A>T (p.Lys570Ter)
c.1405A>T (p.Lys469Ter)
c.1312A>T (p.Lys438Ter)
c.1309A>T (p.Lys437Ter)
c.1240A>T (p.Lys414Ter)
c.1204A>T (p.Lys402Ter)
c.1201A>T (p.Lys401Ter)
c.1108A>T (p.Lys370Ter)
c.1063A>T (p.Lys355Ter)
2g.127048573T>CCA348373506BIN1c.1318A>G (p.Lys440Glu)
c.1735A>G (p.Lys579Glu)
c.1447A>G (p.Lys483Glu)
c.1510A>G (p.Lys504Glu)
c.1183A>G (p.Lys395Glu)
c.1474A>G (p.Lys492Glu)
c.1606A>G (p.Lys536Glu)
c.1228A>G (p.Lys410Glu)
c.1402A>G (p.Lys468Glu)
c.1381A>G (p.Lys461Glu)
c.1273A>G (p.Lys425Glu)
n.4601A>G
c.1780A>G (p.Lys594Glu)
c.1687A>G (p.Lys563Glu)
c.1642A>G (p.Lys548Glu)
c.1615A>G (p.Lys539Glu)
c.1366A>G (p.Lys456Glu)
c.1111A>G (p.Lys371Glu)
c.1648A>G (p.Lys550Glu)
c.1570A>G (p.Lys524Glu)
c.1540A>G (p.Lys514Glu)
c.1519A>G (p.Lys507Glu)
c.1495A>G (p.Lys499Glu)
c.1450A>G (p.Lys484Glu)
c.1411A>G (p.Lys471Glu)
c.1321A>G (p.Lys441Glu)
c.1276A>G (p.Lys426Glu)
c.1699A>G (p.Lys567Glu)
c.1654A>G (p.Lys552Glu)
c.1708A>G (p.Lys570Glu)
c.1405A>G (p.Lys469Glu)
c.1312A>G (p.Lys438Glu)
c.1309A>G (p.Lys437Glu)
c.1240A>G (p.Lys414Glu)
c.1204A>G (p.Lys402Glu)
c.1201A>G (p.Lys401Glu)
c.1108A>G (p.Lys370Glu)
c.1063A>G (p.Lys355Glu)
2g.127048573T>GCA348373507BIN1c.1318A>C (p.Lys440Gln)
c.1735A>C (p.Lys579Gln)
c.1447A>C (p.Lys483Gln)
c.1510A>C (p.Lys504Gln)
c.1183A>C (p.Lys395Gln)
c.1474A>C (p.Lys492Gln)
c.1606A>C (p.Lys536Gln)
c.1228A>C (p.Lys410Gln)
c.1402A>C (p.Lys468Gln)
c.1381A>C (p.Lys461Gln)
c.1273A>C (p.Lys425Gln)
n.4601A>C
c.1780A>C (p.Lys594Gln)
c.1687A>C (p.Lys563Gln)
c.1642A>C (p.Lys548Gln)
c.1615A>C (p.Lys539Gln)
c.1366A>C (p.Lys456Gln)
c.1111A>C (p.Lys371Gln)
c.1648A>C (p.Lys550Gln)
c.1570A>C (p.Lys524Gln)
c.1540A>C (p.Lys514Gln)
c.1519A>C (p.Lys507Gln)
c.1495A>C (p.Lys499Gln)
c.1450A>C (p.Lys484Gln)
c.1411A>C (p.Lys471Gln)
c.1321A>C (p.Lys441Gln)
c.1276A>C (p.Lys426Gln)
c.1699A>C (p.Lys567Gln)
c.1654A>C (p.Lys552Gln)
c.1708A>C (p.Lys570Gln)
c.1405A>C (p.Lys469Gln)
c.1312A>C (p.Lys438Gln)
c.1309A>C (p.Lys437Gln)
c.1240A>C (p.Lys414Gln)
c.1204A>C (p.Lys402Gln)
c.1201A>C (p.Lys401Gln)
c.1108A>C (p.Lys370Gln)
c.1063A>C (p.Lys355Gln)
2g.127048574C>ACA348373509BIN1c.1317G>T (p.Glu439Asp)
c.1734G>T (p.Glu578Asp)
c.1446G>T (p.Glu482Asp)
c.1509G>T (p.Glu503Asp)
c.1182G>T (p.Glu394Asp)
c.1473G>T (p.Glu491Asp)
c.1605G>T (p.Glu535Asp)
c.1227G>T (p.Glu409Asp)
c.1401G>T (p.Glu467Asp)
c.1380G>T (p.Glu460Asp)
c.1272G>T (p.Glu424Asp)
n.4600G>T
c.1779G>T (p.Glu593Asp)
c.1686G>T (p.Glu562Asp)
c.1641G>T (p.Glu547Asp)
c.1614G>T (p.Glu538Asp)
c.1365G>T (p.Glu455Asp)
c.1110G>T (p.Glu370Asp)
c.1647G>T (p.Glu549Asp)
c.1569G>T (p.Glu523Asp)
c.1539G>T (p.Glu513Asp)
c.1518G>T (p.Glu506Asp)
c.1494G>T (p.Glu498Asp)
c.1449G>T (p.Glu483Asp)
c.1410G>T (p.Glu470Asp)
c.1320G>T (p.Glu440Asp)
c.1275G>T (p.Glu425Asp)
c.1698G>T (p.Glu566Asp)
c.1653G>T (p.Glu551Asp)
c.1707G>T (p.Glu569Asp)
c.1404G>T (p.Glu468Asp)
c.1311G>T (p.Glu437Asp)
c.1308G>T (p.Glu436Asp)
c.1239G>T (p.Glu413Asp)
c.1203G>T (p.Glu401Asp)
c.1200G>T (p.Glu400Asp)
c.1107G>T (p.Glu369Asp)
c.1062G>T (p.Glu354Asp)
 gnomAD v4
2g.127048574C>GCA348373510BIN1c.1317G>C (p.Glu439Asp)
c.1734G>C (p.Glu578Asp)
c.1446G>C (p.Glu482Asp)
c.1509G>C (p.Glu503Asp)
c.1182G>C (p.Glu394Asp)
c.1473G>C (p.Glu491Asp)
c.1605G>C (p.Glu535Asp)
c.1227G>C (p.Glu409Asp)
c.1401G>C (p.Glu467Asp)
c.1380G>C (p.Glu460Asp)
c.1272G>C (p.Glu424Asp)
n.4600G>C
c.1779G>C (p.Glu593Asp)
c.1686G>C (p.Glu562Asp)
c.1641G>C (p.Glu547Asp)
c.1614G>C (p.Glu538Asp)
c.1365G>C (p.Glu455Asp)
c.1110G>C (p.Glu370Asp)
c.1647G>C (p.Glu549Asp)
c.1569G>C (p.Glu523Asp)
c.1539G>C (p.Glu513Asp)
c.1518G>C (p.Glu506Asp)
c.1494G>C (p.Glu498Asp)
c.1449G>C (p.Glu483Asp)
c.1410G>C (p.Glu470Asp)
c.1320G>C (p.Glu440Asp)
c.1275G>C (p.Glu425Asp)
c.1698G>C (p.Glu566Asp)
c.1653G>C (p.Glu551Asp)
c.1707G>C (p.Glu569Asp)
c.1404G>C (p.Glu468Asp)
c.1311G>C (p.Glu437Asp)
c.1308G>C (p.Glu436Asp)
c.1239G>C (p.Glu413Asp)
c.1203G>C (p.Glu401Asp)
c.1200G>C (p.Glu400Asp)
c.1107G>C (p.Glu369Asp)
c.1062G>C (p.Glu354Asp)
2g.127048574C>TCA428593662BIN1c.1317G>A (p.Glu439=)
c.1734G>A (p.Glu578=)
c.1446G>A (p.Glu482=)
c.1509G>A (p.Glu503=)
c.1182G>A (p.Glu394=)
c.1473G>A (p.Glu491=)
c.1605G>A (p.Glu535=)
c.1227G>A (p.Glu409=)
c.1401G>A (p.Glu467=)
c.1380G>A (p.Glu460=)
c.1272G>A (p.Glu424=)
n.4600G>A
c.1779G>A (p.Glu593=)
c.1686G>A (p.Glu562=)
c.1641G>A (p.Glu547=)
c.1614G>A (p.Glu538=)
c.1365G>A (p.Glu455=)
c.1110G>A (p.Glu370=)
c.1647G>A (p.Glu549=)
c.1569G>A (p.Glu523=)
c.1539G>A (p.Glu513=)
c.1518G>A (p.Glu506=)
c.1494G>A (p.Glu498=)
c.1449G>A (p.Glu483=)
c.1410G>A (p.Glu470=)
c.1320G>A (p.Glu440=)
c.1275G>A (p.Glu425=)
c.1698G>A (p.Glu566=)
c.1653G>A (p.Glu551=)
c.1707G>A (p.Glu569=)
c.1404G>A (p.Glu468=)
c.1311G>A (p.Glu437=)
c.1308G>A (p.Glu436=)
c.1239G>A (p.Glu413=)
c.1203G>A (p.Glu401=)
c.1200G>A (p.Glu400=)
c.1107G>A (p.Glu369=)
c.1062G>A (p.Glu354=)
2g.127048575T>ACA348373516BIN1c.1316A>T (p.Glu439Val)
c.1733A>T (p.Glu578Val)
c.1445A>T (p.Glu482Val)
c.1508A>T (p.Glu503Val)
c.1181A>T (p.Glu394Val)
c.1472A>T (p.Glu491Val)
c.1604A>T (p.Glu535Val)
c.1226A>T (p.Glu409Val)
c.1400A>T (p.Glu467Val)
c.1379A>T (p.Glu460Val)
c.1271A>T (p.Glu424Val)
n.4599A>T
c.1778A>T (p.Glu593Val)
c.1685A>T (p.Glu562Val)
c.1640A>T (p.Glu547Val)
c.1613A>T (p.Glu538Val)
c.1364A>T (p.Glu455Val)
c.1109A>T (p.Glu370Val)
c.1646A>T (p.Glu549Val)
c.1568A>T (p.Glu523Val)
c.1538A>T (p.Glu513Val)
c.1517A>T (p.Glu506Val)
c.1493A>T (p.Glu498Val)
c.1448A>T (p.Glu483Val)
c.1409A>T (p.Glu470Val)
c.1319A>T (p.Glu440Val)
c.1274A>T (p.Glu425Val)
c.1697A>T (p.Glu566Val)
c.1652A>T (p.Glu551Val)
c.1706A>T (p.Glu569Val)
c.1403A>T (p.Glu468Val)
c.1310A>T (p.Glu437Val)
c.1307A>T (p.Glu436Val)
c.1238A>T (p.Glu413Val)
c.1202A>T (p.Glu401Val)
c.1199A>T (p.Glu400Val)
c.1106A>T (p.Glu369Val)
c.1061A>T (p.Glu354Val)
2g.127048575T>CCA348373513BIN1c.1316A>G (p.Glu439Gly)
c.1733A>G (p.Glu578Gly)
c.1445A>G (p.Glu482Gly)
c.1508A>G (p.Glu503Gly)
c.1181A>G (p.Glu394Gly)
c.1472A>G (p.Glu491Gly)
c.1604A>G (p.Glu535Gly)
c.1226A>G (p.Glu409Gly)
c.1400A>G (p.Glu467Gly)
c.1379A>G (p.Glu460Gly)
c.1271A>G (p.Glu424Gly)
n.4599A>G
c.1778A>G (p.Glu593Gly)
c.1685A>G (p.Glu562Gly)
c.1640A>G (p.Glu547Gly)
c.1613A>G (p.Glu538Gly)
c.1364A>G (p.Glu455Gly)
c.1109A>G (p.Glu370Gly)
c.1646A>G (p.Glu549Gly)
c.1568A>G (p.Glu523Gly)
c.1538A>G (p.Glu513Gly)
c.1517A>G (p.Glu506Gly)
c.1493A>G (p.Glu498Gly)
c.1448A>G (p.Glu483Gly)
c.1409A>G (p.Glu470Gly)
c.1319A>G (p.Glu440Gly)
c.1274A>G (p.Glu425Gly)
c.1697A>G (p.Glu566Gly)
c.1652A>G (p.Glu551Gly)
c.1706A>G (p.Glu569Gly)
c.1403A>G (p.Glu468Gly)
c.1310A>G (p.Glu437Gly)
c.1307A>G (p.Glu436Gly)
c.1238A>G (p.Glu413Gly)
c.1202A>G (p.Glu401Gly)
c.1199A>G (p.Glu400Gly)
c.1106A>G (p.Glu369Gly)
c.1061A>G (p.Glu354Gly)
2g.127048575T>GCA348373512BIN1c.1316A>C (p.Glu439Ala)
c.1733A>C (p.Glu578Ala)
c.1445A>C (p.Glu482Ala)
c.1508A>C (p.Glu503Ala)
c.1181A>C (p.Glu394Ala)
c.1472A>C (p.Glu491Ala)
c.1604A>C (p.Glu535Ala)
c.1226A>C (p.Glu409Ala)
c.1400A>C (p.Glu467Ala)
c.1379A>C (p.Glu460Ala)
c.1271A>C (p.Glu424Ala)
n.4599A>C
c.1778A>C (p.Glu593Ala)
c.1685A>C (p.Glu562Ala)
c.1640A>C (p.Glu547Ala)
c.1613A>C (p.Glu538Ala)
c.1364A>C (p.Glu455Ala)
c.1109A>C (p.Glu370Ala)
c.1646A>C (p.Glu549Ala)
c.1568A>C (p.Glu523Ala)
c.1538A>C (p.Glu513Ala)
c.1517A>C (p.Glu506Ala)
c.1493A>C (p.Glu498Ala)
c.1448A>C (p.Glu483Ala)
c.1409A>C (p.Glu470Ala)
c.1319A>C (p.Glu440Ala)
c.1274A>C (p.Glu425Ala)
c.1697A>C (p.Glu566Ala)
c.1652A>C (p.Glu551Ala)
c.1706A>C (p.Glu569Ala)
c.1403A>C (p.Glu468Ala)
c.1310A>C (p.Glu437Ala)
c.1307A>C (p.Glu436Ala)
c.1238A>C (p.Glu413Ala)
c.1202A>C (p.Glu401Ala)
c.1199A>C (p.Glu400Ala)
c.1106A>C (p.Glu369Ala)
c.1061A>C (p.Glu354Ala)
 dbSNP
2g.127048575T=CA1286710721BIN1c.1316A= (p.Glu439=)
c.1733A= (p.Glu578=)
c.1445A= (p.Glu482=)
c.1508A= (p.Glu503=)
c.1181A= (p.Glu394=)
c.1472A= (p.Glu491=)
c.1604A= (p.Glu535=)
c.1226A= (p.Glu409=)
c.1400A= (p.Glu467=)
c.1379A= (p.Glu460=)
c.1271A= (p.Glu424=)
n.4599A=
c.1778A= (p.Glu593=)
c.1685A= (p.Glu562=)
c.1640A= (p.Glu547=)
c.1613A= (p.Glu538=)
c.1364A= (p.Glu455=)
c.1109A= (p.Glu370=)
c.1646A= (p.Glu549=)
c.1568A= (p.Glu523=)
c.1538A= (p.Glu513=)
c.1517A= (p.Glu506=)
c.1493A= (p.Glu498=)
c.1448A= (p.Glu483=)
c.1409A= (p.Glu470=)
c.1319A= (p.Glu440=)
c.1274A= (p.Glu425=)
c.1697A= (p.Glu566=)
c.1652A= (p.Glu551=)
c.1706A= (p.Glu569=)
c.1403A= (p.Glu468=)
c.1310A= (p.Glu437=)
c.1307A= (p.Glu436=)
c.1238A= (p.Glu413=)
c.1202A= (p.Glu401=)
c.1199A= (p.Glu400=)
c.1106A= (p.Glu369=)
c.1061A= (p.Glu354=)
2g.127048576C>ACA348373526BIN1c.1315G>T (p.Glu439Ter)
c.1732G>T (p.Glu578Ter)
c.1444G>T (p.Glu482Ter)
c.1507G>T (p.Glu503Ter)
c.1180G>T (p.Glu394Ter)
c.1471G>T (p.Glu491Ter)
c.1603G>T (p.Glu535Ter)
c.1225G>T (p.Glu409Ter)
c.1399G>T (p.Glu467Ter)
c.1378G>T (p.Glu460Ter)
c.1270G>T (p.Glu424Ter)
n.4598G>T
c.1777G>T (p.Glu593Ter)
c.1684G>T (p.Glu562Ter)
c.1639G>T (p.Glu547Ter)
c.1612G>T (p.Glu538Ter)
c.1363G>T (p.Glu455Ter)
c.1108G>T (p.Glu370Ter)
c.1645G>T (p.Glu549Ter)
c.1567G>T (p.Glu523Ter)
c.1537G>T (p.Glu513Ter)
c.1516G>T (p.Glu506Ter)
c.1492G>T (p.Glu498Ter)
c.1447G>T (p.Glu483Ter)
c.1408G>T (p.Glu470Ter)
c.1318G>T (p.Glu440Ter)
c.1273G>T (p.Glu425Ter)
c.1696G>T (p.Glu566Ter)
c.1651G>T (p.Glu551Ter)
c.1705G>T (p.Glu569Ter)
c.1402G>T (p.Glu468Ter)
c.1309G>T (p.Glu437Ter)
c.1306G>T (p.Glu436Ter)
c.1237G>T (p.Glu413Ter)
c.1201G>T (p.Glu401Ter)
c.1198G>T (p.Glu400Ter)
c.1105G>T (p.Glu369Ter)
c.1060G>T (p.Glu354Ter)
2g.127048576C>GCA348373527BIN1c.1315G>C (p.Glu439Gln)
c.1732G>C (p.Glu578Gln)
c.1444G>C (p.Glu482Gln)
c.1507G>C (p.Glu503Gln)
c.1180G>C (p.Glu394Gln)
c.1471G>C (p.Glu491Gln)
c.1603G>C (p.Glu535Gln)
c.1225G>C (p.Glu409Gln)
c.1399G>C (p.Glu467Gln)
c.1378G>C (p.Glu460Gln)
c.1270G>C (p.Glu424Gln)
n.4598G>C
c.1777G>C (p.Glu593Gln)
c.1684G>C (p.Glu562Gln)
c.1639G>C (p.Glu547Gln)
c.1612G>C (p.Glu538Gln)
c.1363G>C (p.Glu455Gln)
c.1108G>C (p.Glu370Gln)
c.1645G>C (p.Glu549Gln)
c.1567G>C (p.Glu523Gln)
c.1537G>C (p.Glu513Gln)
c.1516G>C (p.Glu506Gln)
c.1492G>C (p.Glu498Gln)
c.1447G>C (p.Glu483Gln)
c.1408G>C (p.Glu470Gln)
c.1318G>C (p.Glu440Gln)
c.1273G>C (p.Glu425Gln)
c.1696G>C (p.Glu566Gln)
c.1651G>C (p.Glu551Gln)
c.1705G>C (p.Glu569Gln)
c.1402G>C (p.Glu468Gln)
c.1309G>C (p.Glu437Gln)
c.1306G>C (p.Glu436Gln)
c.1237G>C (p.Glu413Gln)
c.1201G>C (p.Glu401Gln)
c.1198G>C (p.Glu400Gln)
c.1105G>C (p.Glu369Gln)
c.1060G>C (p.Glu354Gln)
2g.127048576C>TCA348373529BIN1c.1315G>A (p.Glu439Lys)
c.1732G>A (p.Glu578Lys)
c.1444G>A (p.Glu482Lys)
c.1507G>A (p.Glu503Lys)
c.1180G>A (p.Glu394Lys)
c.1471G>A (p.Glu491Lys)
c.1603G>A (p.Glu535Lys)
c.1225G>A (p.Glu409Lys)
c.1399G>A (p.Glu467Lys)
c.1378G>A (p.Glu460Lys)
c.1270G>A (p.Glu424Lys)
n.4598G>A
c.1777G>A (p.Glu593Lys)
c.1684G>A (p.Glu562Lys)
c.1639G>A (p.Glu547Lys)
c.1612G>A (p.Glu538Lys)
c.1363G>A (p.Glu455Lys)
c.1108G>A (p.Glu370Lys)
c.1645G>A (p.Glu549Lys)
c.1567G>A (p.Glu523Lys)
c.1537G>A (p.Glu513Lys)
c.1516G>A (p.Glu506Lys)
c.1492G>A (p.Glu498Lys)
c.1447G>A (p.Glu483Lys)
c.1408G>A (p.Glu470Lys)
c.1318G>A (p.Glu440Lys)
c.1273G>A (p.Glu425Lys)
c.1696G>A (p.Glu566Lys)
c.1651G>A (p.Glu551Lys)
c.1705G>A (p.Glu569Lys)
c.1402G>A (p.Glu468Lys)
c.1309G>A (p.Glu437Lys)
c.1306G>A (p.Glu436Lys)
c.1237G>A (p.Glu413Lys)
c.1201G>A (p.Glu401Lys)
c.1198G>A (p.Glu400Lys)
c.1105G>A (p.Glu369Lys)
c.1060G>A (p.Glu354Lys)
2g.127048577C>ACA428593664BIN1c.1314G>T (p.Leu438=)
c.1731G>T (p.Leu577=)
c.1443G>T (p.Leu481=)
c.1506G>T (p.Leu502=)
c.1179G>T (p.Leu393=)
c.1470G>T (p.Leu490=)
c.1602G>T (p.Leu534=)
c.1224G>T (p.Leu408=)
c.1398G>T (p.Leu466=)
c.1377G>T (p.Leu459=)
c.1269G>T (p.Leu423=)
n.4597G>T
c.1776G>T (p.Leu592=)
c.1683G>T (p.Leu561=)
c.1638G>T (p.Leu546=)
c.1611G>T (p.Leu537=)
c.1362G>T (p.Leu454=)
c.1107G>T (p.Leu369=)
c.1644G>T (p.Leu548=)
c.1566G>T (p.Leu522=)
c.1536G>T (p.Leu512=)
c.1515G>T (p.Leu505=)
c.1491G>T (p.Leu497=)
c.1446G>T (p.Leu482=)
c.1407G>T (p.Leu469=)
c.1317G>T (p.Leu439=)
c.1272G>T (p.Leu424=)
c.1695G>T (p.Leu565=)
c.1650G>T (p.Leu550=)
c.1704G>T (p.Leu568=)
c.1401G>T (p.Leu467=)
c.1308G>T (p.Leu436=)
c.1305G>T (p.Leu435=)
c.1236G>T (p.Leu412=)
c.1200G>T (p.Leu400=)
c.1197G>T (p.Leu399=)
c.1104G>T (p.Leu368=)
c.1059G>T (p.Leu353=)
2g.127048577C>GCA428593666BIN1c.1314G>C (p.Leu438=)
c.1731G>C (p.Leu577=)
c.1443G>C (p.Leu481=)
c.1506G>C (p.Leu502=)
c.1179G>C (p.Leu393=)
c.1470G>C (p.Leu490=)
c.1602G>C (p.Leu534=)
c.1224G>C (p.Leu408=)
c.1398G>C (p.Leu466=)
c.1377G>C (p.Leu459=)
c.1269G>C (p.Leu423=)
n.4597G>C
c.1776G>C (p.Leu592=)
c.1683G>C (p.Leu561=)
c.1638G>C (p.Leu546=)
c.1611G>C (p.Leu537=)
c.1362G>C (p.Leu454=)
c.1107G>C (p.Leu369=)
c.1644G>C (p.Leu548=)
c.1566G>C (p.Leu522=)
c.1536G>C (p.Leu512=)
c.1515G>C (p.Leu505=)
c.1491G>C (p.Leu497=)
c.1446G>C (p.Leu482=)
c.1407G>C (p.Leu469=)
c.1317G>C (p.Leu439=)
c.1272G>C (p.Leu424=)
c.1695G>C (p.Leu565=)
c.1650G>C (p.Leu550=)
c.1704G>C (p.Leu568=)
c.1401G>C (p.Leu467=)
c.1308G>C (p.Leu436=)
c.1305G>C (p.Leu435=)
c.1236G>C (p.Leu412=)
c.1200G>C (p.Leu400=)
c.1197G>C (p.Leu399=)
c.1104G>C (p.Leu368=)
c.1059G>C (p.Leu353=)
2g.127048577C>TCA428593665BIN1c.1314G>A (p.Leu438=)
c.1731G>A (p.Leu577=)
c.1443G>A (p.Leu481=)
c.1506G>A (p.Leu502=)
c.1179G>A (p.Leu393=)
c.1470G>A (p.Leu490=)
c.1602G>A (p.Leu534=)
c.1224G>A (p.Leu408=)
c.1398G>A (p.Leu466=)
c.1377G>A (p.Leu459=)
c.1269G>A (p.Leu423=)
n.4597G>A
c.1776G>A (p.Leu592=)
c.1683G>A (p.Leu561=)
c.1638G>A (p.Leu546=)
c.1611G>A (p.Leu537=)
c.1362G>A (p.Leu454=)
c.1107G>A (p.Leu369=)
c.1644G>A (p.Leu548=)
c.1566G>A (p.Leu522=)
c.1536G>A (p.Leu512=)
c.1515G>A (p.Leu505=)
c.1491G>A (p.Leu497=)
c.1446G>A (p.Leu482=)
c.1407G>A (p.Leu469=)
c.1317G>A (p.Leu439=)
c.1272G>A (p.Leu424=)
c.1695G>A (p.Leu565=)
c.1650G>A (p.Leu550=)
c.1704G>A (p.Leu568=)
c.1401G>A (p.Leu467=)
c.1308G>A (p.Leu436=)
c.1305G>A (p.Leu435=)
c.1236G>A (p.Leu412=)
c.1200G>A (p.Leu400=)
c.1197G>A (p.Leu399=)
c.1104G>A (p.Leu368=)
c.1059G>A (p.Leu353=)
2g.127048578A>CCA348373531BIN1c.1313T>G (p.Leu438Arg)
c.1730T>G (p.Leu577Arg)
c.1442T>G (p.Leu481Arg)
c.1505T>G (p.Leu502Arg)
c.1178T>G (p.Leu393Arg)
c.1469T>G (p.Leu490Arg)
c.1601T>G (p.Leu534Arg)
c.1223T>G (p.Leu408Arg)
c.1397T>G (p.Leu466Arg)
c.1376T>G (p.Leu459Arg)
c.1268T>G (p.Leu423Arg)
n.4596T>G
c.1775T>G (p.Leu592Arg)
c.1682T>G (p.Leu561Arg)
c.1637T>G (p.Leu546Arg)
c.1610T>G (p.Leu537Arg)
c.1361T>G (p.Leu454Arg)
c.1106T>G (p.Leu369Arg)
c.1643T>G (p.Leu548Arg)
c.1565T>G (p.Leu522Arg)
c.1535T>G (p.Leu512Arg)
c.1514T>G (p.Leu505Arg)
c.1490T>G (p.Leu497Arg)
c.1445T>G (p.Leu482Arg)
c.1406T>G (p.Leu469Arg)
c.1316T>G (p.Leu439Arg)
c.1271T>G (p.Leu424Arg)
c.1694T>G (p.Leu565Arg)
c.1649T>G (p.Leu550Arg)
c.1703T>G (p.Leu568Arg)
c.1400T>G (p.Leu467Arg)
c.1307T>G (p.Leu436Arg)
c.1304T>G (p.Leu435Arg)
c.1235T>G (p.Leu412Arg)
c.1199T>G (p.Leu400Arg)
c.1196T>G (p.Leu399Arg)
c.1103T>G (p.Leu368Arg)
c.1058T>G (p.Leu353Arg)
2g.127048578A>GCA348373533BIN1c.1313T>C (p.Leu438Pro)
c.1730T>C (p.Leu577Pro)
c.1442T>C (p.Leu481Pro)
c.1505T>C (p.Leu502Pro)
c.1178T>C (p.Leu393Pro)
c.1469T>C (p.Leu490Pro)
c.1601T>C (p.Leu534Pro)
c.1223T>C (p.Leu408Pro)
c.1397T>C (p.Leu466Pro)
c.1376T>C (p.Leu459Pro)
c.1268T>C (p.Leu423Pro)
n.4596T>C
c.1775T>C (p.Leu592Pro)
c.1682T>C (p.Leu561Pro)
c.1637T>C (p.Leu546Pro)
c.1610T>C (p.Leu537Pro)
c.1361T>C (p.Leu454Pro)
c.1106T>C (p.Leu369Pro)
c.1643T>C (p.Leu548Pro)
c.1565T>C (p.Leu522Pro)
c.1535T>C (p.Leu512Pro)
c.1514T>C (p.Leu505Pro)
c.1490T>C (p.Leu497Pro)
c.1445T>C (p.Leu482Pro)
c.1406T>C (p.Leu469Pro)
c.1316T>C (p.Leu439Pro)
c.1271T>C (p.Leu424Pro)
c.1694T>C (p.Leu565Pro)
c.1649T>C (p.Leu550Pro)
c.1703T>C (p.Leu568Pro)
c.1400T>C (p.Leu467Pro)
c.1307T>C (p.Leu436Pro)
c.1304T>C (p.Leu435Pro)
c.1235T>C (p.Leu412Pro)
c.1199T>C (p.Leu400Pro)
c.1196T>C (p.Leu399Pro)
c.1103T>C (p.Leu368Pro)
c.1058T>C (p.Leu353Pro)
 gnomAD v4
2g.127048578A>TCA348373535BIN1c.1313T>A (p.Leu438Gln)
c.1730T>A (p.Leu577Gln)
c.1442T>A (p.Leu481Gln)
c.1505T>A (p.Leu502Gln)
c.1178T>A (p.Leu393Gln)
c.1469T>A (p.Leu490Gln)
c.1601T>A (p.Leu534Gln)
c.1223T>A (p.Leu408Gln)
c.1397T>A (p.Leu466Gln)
c.1376T>A (p.Leu459Gln)
c.1268T>A (p.Leu423Gln)
n.4596T>A
c.1775T>A (p.Leu592Gln)
c.1682T>A (p.Leu561Gln)
c.1637T>A (p.Leu546Gln)
c.1610T>A (p.Leu537Gln)
c.1361T>A (p.Leu454Gln)
c.1106T>A (p.Leu369Gln)
c.1643T>A (p.Leu548Gln)
c.1565T>A (p.Leu522Gln)
c.1535T>A (p.Leu512Gln)
c.1514T>A (p.Leu505Gln)
c.1490T>A (p.Leu497Gln)
c.1445T>A (p.Leu482Gln)
c.1406T>A (p.Leu469Gln)
c.1316T>A (p.Leu439Gln)
c.1271T>A (p.Leu424Gln)
c.1694T>A (p.Leu565Gln)
c.1649T>A (p.Leu550Gln)
c.1703T>A (p.Leu568Gln)
c.1400T>A (p.Leu467Gln)
c.1307T>A (p.Leu436Gln)
c.1304T>A (p.Leu435Gln)
c.1235T>A (p.Leu412Gln)
c.1199T>A (p.Leu400Gln)
c.1196T>A (p.Leu399Gln)
c.1103T>A (p.Leu368Gln)
c.1058T>A (p.Leu353Gln)
2g.127048579G>ACA428593667BIN1c.1312C>T (p.Leu438=)
c.1729C>T (p.Leu577=)
c.1441C>T (p.Leu481=)
c.1504C>T (p.Leu502=)
c.1177C>T (p.Leu393=)
c.1468C>T (p.Leu490=)
c.1600C>T (p.Leu534=)
c.1222C>T (p.Leu408=)
c.1396C>T (p.Leu466=)
c.1375C>T (p.Leu459=)
c.1267C>T (p.Leu423=)
n.4595C>T
c.1774C>T (p.Leu592=)
c.1681C>T (p.Leu561=)
c.1636C>T (p.Leu546=)
c.1609C>T (p.Leu537=)
c.1360C>T (p.Leu454=)
c.1105C>T (p.Leu369=)
c.1642C>T (p.Leu548=)
c.1564C>T (p.Leu522=)
c.1534C>T (p.Leu512=)
c.1513C>T (p.Leu505=)
c.1489C>T (p.Leu497=)
c.1444C>T (p.Leu482=)
c.1405C>T (p.Leu469=)
c.1315C>T (p.Leu439=)
c.1270C>T (p.Leu424=)
c.1693C>T (p.Leu565=)
c.1648C>T (p.Leu550=)
c.1702C>T (p.Leu568=)
c.1399C>T (p.Leu467=)
c.1306C>T (p.Leu436=)
c.1303C>T (p.Leu435=)
c.1234C>T (p.Leu412=)
c.1198C>T (p.Leu400=)
c.1195C>T (p.Leu399=)
c.1102C>T (p.Leu368=)
c.1057C>T (p.Leu353=)
2g.127048579G>CCA1856930BIN1c.1312C>G (p.Leu438Val)
c.1729C>G (p.Leu577Val)
c.1441C>G (p.Leu481Val)
c.1504C>G (p.Leu502Val)
c.1177C>G (p.Leu393Val)
c.1468C>G (p.Leu490Val)
c.1600C>G (p.Leu534Val)
c.1222C>G (p.Leu408Val)
c.1396C>G (p.Leu466Val)
c.1375C>G (p.Leu459Val)
c.1267C>G (p.Leu423Val)
n.4595C>G
c.1774C>G (p.Leu592Val)
c.1681C>G (p.Leu561Val)
c.1636C>G (p.Leu546Val)
c.1609C>G (p.Leu537Val)
c.1360C>G (p.Leu454Val)
c.1105C>G (p.Leu369Val)
c.1642C>G (p.Leu548Val)
c.1564C>G (p.Leu522Val)
c.1534C>G (p.Leu512Val)
c.1513C>G (p.Leu505Val)
c.1489C>G (p.Leu497Val)
c.1444C>G (p.Leu482Val)
c.1405C>G (p.Leu469Val)
c.1315C>G (p.Leu439Val)
c.1270C>G (p.Leu424Val)
c.1693C>G (p.Leu565Val)
c.1648C>G (p.Leu550Val)
c.1702C>G (p.Leu568Val)
c.1399C>G (p.Leu467Val)
c.1306C>G (p.Leu436Val)
c.1303C>G (p.Leu435Val)
c.1234C>G (p.Leu412Val)
c.1198C>G (p.Leu400Val)
c.1195C>G (p.Leu399Val)
c.1102C>G (p.Leu368Val)
c.1057C>G (p.Leu353Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048579G=CA1286710722BIN1c.1312C= (p.Leu438=)
c.1729C= (p.Leu577=)
c.1441C= (p.Leu481=)
c.1504C= (p.Leu502=)
c.1177C= (p.Leu393=)
c.1468C= (p.Leu490=)
c.1600C= (p.Leu534=)
c.1222C= (p.Leu408=)
c.1396C= (p.Leu466=)
c.1375C= (p.Leu459=)
c.1267C= (p.Leu423=)
n.4595C=
c.1774C= (p.Leu592=)
c.1681C= (p.Leu561=)
c.1636C= (p.Leu546=)
c.1609C= (p.Leu537=)
c.1360C= (p.Leu454=)
c.1105C= (p.Leu369=)
c.1642C= (p.Leu548=)
c.1564C= (p.Leu522=)
c.1534C= (p.Leu512=)
c.1513C= (p.Leu505=)
c.1489C= (p.Leu497=)
c.1444C= (p.Leu482=)
c.1405C= (p.Leu469=)
c.1315C= (p.Leu439=)
c.1270C= (p.Leu424=)
c.1693C= (p.Leu565=)
c.1648C= (p.Leu550=)
c.1702C= (p.Leu568=)
c.1399C= (p.Leu467=)
c.1306C= (p.Leu436=)
c.1303C= (p.Leu435=)
c.1234C= (p.Leu412=)
c.1198C= (p.Leu400=)
c.1195C= (p.Leu399=)
c.1102C= (p.Leu368=)
c.1057C= (p.Leu353=)
2g.127048579G>TCA348373537BIN1c.1312C>A (p.Leu438Met)
c.1729C>A (p.Leu577Met)
c.1441C>A (p.Leu481Met)
c.1504C>A (p.Leu502Met)
c.1177C>A (p.Leu393Met)
c.1468C>A (p.Leu490Met)
c.1600C>A (p.Leu534Met)
c.1222C>A (p.Leu408Met)
c.1396C>A (p.Leu466Met)
c.1375C>A (p.Leu459Met)
c.1267C>A (p.Leu423Met)
n.4595C>A
c.1774C>A (p.Leu592Met)
c.1681C>A (p.Leu561Met)
c.1636C>A (p.Leu546Met)
c.1609C>A (p.Leu537Met)
c.1360C>A (p.Leu454Met)
c.1105C>A (p.Leu369Met)
c.1642C>A (p.Leu548Met)
c.1564C>A (p.Leu522Met)
c.1534C>A (p.Leu512Met)
c.1513C>A (p.Leu505Met)
c.1489C>A (p.Leu497Met)
c.1444C>A (p.Leu482Met)
c.1405C>A (p.Leu469Met)
c.1315C>A (p.Leu439Met)
c.1270C>A (p.Leu424Met)
c.1693C>A (p.Leu565Met)
c.1648C>A (p.Leu550Met)
c.1702C>A (p.Leu568Met)
c.1399C>A (p.Leu467Met)
c.1306C>A (p.Leu436Met)
c.1303C>A (p.Leu435Met)
c.1234C>A (p.Leu412Met)
c.1198C>A (p.Leu400Met)
c.1195C>A (p.Leu399Met)
c.1102C>A (p.Leu368Met)
c.1057C>A (p.Leu353Met)
2g.127048580C>ACA348373539BIN1c.1311G>T (p.Glu437Asp)
c.1728G>T (p.Glu576Asp)
c.1440G>T (p.Glu480Asp)
c.1503G>T (p.Glu501Asp)
c.1176G>T (p.Glu392Asp)
c.1467G>T (p.Glu489Asp)
c.1599G>T (p.Glu533Asp)
c.1221G>T (p.Glu407Asp)
c.1395G>T (p.Glu465Asp)
c.1374G>T (p.Glu458Asp)
c.1266G>T (p.Glu422Asp)
n.4594G>T
c.1773G>T (p.Glu591Asp)
c.1680G>T (p.Glu560Asp)
c.1635G>T (p.Glu545Asp)
c.1608G>T (p.Glu536Asp)
c.1359G>T (p.Glu453Asp)
c.1104G>T (p.Glu368Asp)
c.1641G>T (p.Glu547Asp)
c.1563G>T (p.Glu521Asp)
c.1533G>T (p.Glu511Asp)
c.1512G>T (p.Glu504Asp)
c.1488G>T (p.Glu496Asp)
c.1443G>T (p.Glu481Asp)
c.1404G>T (p.Glu468Asp)
c.1314G>T (p.Glu438Asp)
c.1269G>T (p.Glu423Asp)
c.1692G>T (p.Glu564Asp)
c.1647G>T (p.Glu549Asp)
c.1701G>T (p.Glu567Asp)
c.1398G>T (p.Glu466Asp)
c.1305G>T (p.Glu435Asp)
c.1302G>T (p.Glu434Asp)
c.1233G>T (p.Glu411Asp)
c.1197G>T (p.Glu399Asp)
c.1194G>T (p.Glu398Asp)
c.1101G>T (p.Glu367Asp)
c.1056G>T (p.Glu352Asp)
 dbSNP
2g.127048580C=CA1286710723BIN1c.1311G= (p.Glu437=)
c.1728G= (p.Glu576=)
c.1440G= (p.Glu480=)
c.1503G= (p.Glu501=)
c.1176G= (p.Glu392=)
c.1467G= (p.Glu489=)
c.1599G= (p.Glu533=)
c.1221G= (p.Glu407=)
c.1395G= (p.Glu465=)
c.1374G= (p.Glu458=)
c.1266G= (p.Glu422=)
n.4594G=
c.1773G= (p.Glu591=)
c.1680G= (p.Glu560=)
c.1635G= (p.Glu545=)
c.1608G= (p.Glu536=)
c.1359G= (p.Glu453=)
c.1104G= (p.Glu368=)
c.1641G= (p.Glu547=)
c.1563G= (p.Glu521=)
c.1533G= (p.Glu511=)
c.1512G= (p.Glu504=)
c.1488G= (p.Glu496=)
c.1443G= (p.Glu481=)
c.1404G= (p.Glu468=)
c.1314G= (p.Glu438=)
c.1269G= (p.Glu423=)
c.1692G= (p.Glu564=)
c.1647G= (p.Glu549=)
c.1701G= (p.Glu567=)
c.1398G= (p.Glu466=)
c.1305G= (p.Glu435=)
c.1302G= (p.Glu434=)
c.1233G= (p.Glu411=)
c.1197G= (p.Glu399=)
c.1194G= (p.Glu398=)
c.1101G= (p.Glu367=)
c.1056G= (p.Glu352=)
2g.127048580C>GCA348373540BIN1c.1311G>C (p.Glu437Asp)
c.1728G>C (p.Glu576Asp)
c.1440G>C (p.Glu480Asp)
c.1503G>C (p.Glu501Asp)
c.1176G>C (p.Glu392Asp)
c.1467G>C (p.Glu489Asp)
c.1599G>C (p.Glu533Asp)
c.1221G>C (p.Glu407Asp)
c.1395G>C (p.Glu465Asp)
c.1374G>C (p.Glu458Asp)
c.1266G>C (p.Glu422Asp)
n.4594G>C
c.1773G>C (p.Glu591Asp)
c.1680G>C (p.Glu560Asp)
c.1635G>C (p.Glu545Asp)
c.1608G>C (p.Glu536Asp)
c.1359G>C (p.Glu453Asp)
c.1104G>C (p.Glu368Asp)
c.1641G>C (p.Glu547Asp)
c.1563G>C (p.Glu521Asp)
c.1533G>C (p.Glu511Asp)
c.1512G>C (p.Glu504Asp)
c.1488G>C (p.Glu496Asp)
c.1443G>C (p.Glu481Asp)
c.1404G>C (p.Glu468Asp)
c.1314G>C (p.Glu438Asp)
c.1269G>C (p.Glu423Asp)
c.1692G>C (p.Glu564Asp)
c.1647G>C (p.Glu549Asp)
c.1701G>C (p.Glu567Asp)
c.1398G>C (p.Glu466Asp)
c.1305G>C (p.Glu435Asp)
c.1302G>C (p.Glu434Asp)
c.1233G>C (p.Glu411Asp)
c.1197G>C (p.Glu399Asp)
c.1194G>C (p.Glu398Asp)
c.1101G>C (p.Glu367Asp)
c.1056G>C (p.Glu352Asp)
2g.127048580C>TCA428593671BIN1c.1311G>A (p.Glu437=)
c.1728G>A (p.Glu576=)
c.1440G>A (p.Glu480=)
c.1503G>A (p.Glu501=)
c.1176G>A (p.Glu392=)
c.1467G>A (p.Glu489=)
c.1599G>A (p.Glu533=)
c.1221G>A (p.Glu407=)
c.1395G>A (p.Glu465=)
c.1374G>A (p.Glu458=)
c.1266G>A (p.Glu422=)
n.4594G>A
c.1773G>A (p.Glu591=)
c.1680G>A (p.Glu560=)
c.1635G>A (p.Glu545=)
c.1608G>A (p.Glu536=)
c.1359G>A (p.Glu453=)
c.1104G>A (p.Glu368=)
c.1641G>A (p.Glu547=)
c.1563G>A (p.Glu521=)
c.1533G>A (p.Glu511=)
c.1512G>A (p.Glu504=)
c.1488G>A (p.Glu496=)
c.1443G>A (p.Glu481=)
c.1404G>A (p.Glu468=)
c.1314G>A (p.Glu438=)
c.1269G>A (p.Glu423=)
c.1692G>A (p.Glu564=)
c.1647G>A (p.Glu549=)
c.1701G>A (p.Glu567=)
c.1398G>A (p.Glu466=)
c.1305G>A (p.Glu435=)
c.1302G>A (p.Glu434=)
c.1233G>A (p.Glu411=)
c.1197G>A (p.Glu399=)
c.1194G>A (p.Glu398=)
c.1101G>A (p.Glu367=)
c.1056G>A (p.Glu352=)
 dbSNP gnomAD v4
2g.127048581T>ACA1856931BIN1c.1310A>T (p.Glu437Val)
c.1727A>T (p.Glu576Val)
c.1439A>T (p.Glu480Val)
c.1502A>T (p.Glu501Val)
c.1175A>T (p.Glu392Val)
c.1466A>T (p.Glu489Val)
c.1598A>T (p.Glu533Val)
c.1220A>T (p.Glu407Val)
c.1394A>T (p.Glu465Val)
c.1373A>T (p.Glu458Val)
c.1265A>T (p.Glu422Val)
n.4593A>T
c.1772A>T (p.Glu591Val)
c.1679A>T (p.Glu560Val)
c.1634A>T (p.Glu545Val)
c.1607A>T (p.Glu536Val)
c.1358A>T (p.Glu453Val)
c.1103A>T (p.Glu368Val)
c.1640A>T (p.Glu547Val)
c.1562A>T (p.Glu521Val)
c.1532A>T (p.Glu511Val)
c.1511A>T (p.Glu504Val)
c.1487A>T (p.Glu496Val)
c.1442A>T (p.Glu481Val)
c.1403A>T (p.Glu468Val)
c.1313A>T (p.Glu438Val)
c.1268A>T (p.Glu423Val)
c.1691A>T (p.Glu564Val)
c.1646A>T (p.Glu549Val)
c.1700A>T (p.Glu567Val)
c.1397A>T (p.Glu466Val)
c.1304A>T (p.Glu435Val)
c.1301A>T (p.Glu434Val)
c.1232A>T (p.Glu411Val)
c.1196A>T (p.Glu399Val)
c.1193A>T (p.Glu398Val)
c.1100A>T (p.Glu367Val)
c.1055A>T (p.Glu352Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048581T>CCA348373541BIN1c.1310A>G (p.Glu437Gly)
c.1727A>G (p.Glu576Gly)
c.1439A>G (p.Glu480Gly)
c.1502A>G (p.Glu501Gly)
c.1175A>G (p.Glu392Gly)
c.1466A>G (p.Glu489Gly)
c.1598A>G (p.Glu533Gly)
c.1220A>G (p.Glu407Gly)
c.1394A>G (p.Glu465Gly)
c.1373A>G (p.Glu458Gly)
c.1265A>G (p.Glu422Gly)
n.4593A>G
c.1772A>G (p.Glu591Gly)
c.1679A>G (p.Glu560Gly)
c.1634A>G (p.Glu545Gly)
c.1607A>G (p.Glu536Gly)
c.1358A>G (p.Glu453Gly)
c.1103A>G (p.Glu368Gly)
c.1640A>G (p.Glu547Gly)
c.1562A>G (p.Glu521Gly)
c.1532A>G (p.Glu511Gly)
c.1511A>G (p.Glu504Gly)
c.1487A>G (p.Glu496Gly)
c.1442A>G (p.Glu481Gly)
c.1403A>G (p.Glu468Gly)
c.1313A>G (p.Glu438Gly)
c.1268A>G (p.Glu423Gly)
c.1691A>G (p.Glu564Gly)
c.1646A>G (p.Glu549Gly)
c.1700A>G (p.Glu567Gly)
c.1397A>G (p.Glu466Gly)
c.1304A>G (p.Glu435Gly)
c.1301A>G (p.Glu434Gly)
c.1232A>G (p.Glu411Gly)
c.1196A>G (p.Glu399Gly)
c.1193A>G (p.Glu398Gly)
c.1100A>G (p.Glu367Gly)
c.1055A>G (p.Glu352Gly)
2g.127048581T>GCA348373542BIN1c.1310A>C (p.Glu437Ala)
c.1727A>C (p.Glu576Ala)
c.1439A>C (p.Glu480Ala)
c.1502A>C (p.Glu501Ala)
c.1175A>C (p.Glu392Ala)
c.1466A>C (p.Glu489Ala)
c.1598A>C (p.Glu533Ala)
c.1220A>C (p.Glu407Ala)
c.1394A>C (p.Glu465Ala)
c.1373A>C (p.Glu458Ala)
c.1265A>C (p.Glu422Ala)
n.4593A>C
c.1772A>C (p.Glu591Ala)
c.1679A>C (p.Glu560Ala)
c.1634A>C (p.Glu545Ala)
c.1607A>C (p.Glu536Ala)
c.1358A>C (p.Glu453Ala)
c.1103A>C (p.Glu368Ala)
c.1640A>C (p.Glu547Ala)
c.1562A>C (p.Glu521Ala)
c.1532A>C (p.Glu511Ala)
c.1511A>C (p.Glu504Ala)
c.1487A>C (p.Glu496Ala)
c.1442A>C (p.Glu481Ala)
c.1403A>C (p.Glu468Ala)
c.1313A>C (p.Glu438Ala)
c.1268A>C (p.Glu423Ala)
c.1691A>C (p.Glu564Ala)
c.1646A>C (p.Glu549Ala)
c.1700A>C (p.Glu567Ala)
c.1397A>C (p.Glu466Ala)
c.1304A>C (p.Glu435Ala)
c.1301A>C (p.Glu434Ala)
c.1232A>C (p.Glu411Ala)
c.1196A>C (p.Glu399Ala)
c.1193A>C (p.Glu398Ala)
c.1100A>C (p.Glu367Ala)
c.1055A>C (p.Glu352Ala)
2g.127048581T=CA1286710724BIN1c.1310A= (p.Glu437=)
c.1727A= (p.Glu576=)
c.1439A= (p.Glu480=)
c.1502A= (p.Glu501=)
c.1175A= (p.Glu392=)
c.1466A= (p.Glu489=)
c.1598A= (p.Glu533=)
c.1220A= (p.Glu407=)
c.1394A= (p.Glu465=)
c.1373A= (p.Glu458=)
c.1265A= (p.Glu422=)
n.4593A=
c.1772A= (p.Glu591=)
c.1679A= (p.Glu560=)
c.1634A= (p.Glu545=)
c.1607A= (p.Glu536=)
c.1358A= (p.Glu453=)
c.1103A= (p.Glu368=)
c.1640A= (p.Glu547=)
c.1562A= (p.Glu521=)
c.1532A= (p.Glu511=)
c.1511A= (p.Glu504=)
c.1487A= (p.Glu496=)
c.1442A= (p.Glu481=)
c.1403A= (p.Glu468=)
c.1313A= (p.Glu438=)
c.1268A= (p.Glu423=)
c.1691A= (p.Glu564=)
c.1646A= (p.Glu549=)
c.1700A= (p.Glu567=)
c.1397A= (p.Glu466=)
c.1304A= (p.Glu435=)
c.1301A= (p.Glu434=)
c.1232A= (p.Glu411=)
c.1196A= (p.Glu399=)
c.1193A= (p.Glu398=)
c.1100A= (p.Glu367=)
c.1055A= (p.Glu352=)
2g.127048581_127048582delinsAACA2573133172BIN1c.1309_1310delinsTT (p.Glu437Leu)
c.1726_1727delinsTT (p.Glu576Leu)
c.1438_1439delinsTT (p.Glu480Leu)
c.1501_1502delinsTT (p.Glu501Leu)
c.1174_1175delinsTT (p.Glu392Leu)
c.1465_1466delinsTT (p.Glu489Leu)
c.1597_1598delinsTT (p.Glu533Leu)
c.1219_1220delinsTT (p.Glu407Leu)
c.1393_1394delinsTT (p.Glu465Leu)
c.1372_1373delinsTT (p.Glu458Leu)
c.1264_1265delinsTT (p.Glu422Leu)
n.4592_4593delinsTT
c.1771_1772delinsTT (p.Glu591Leu)
c.1678_1679delinsTT (p.Glu560Leu)
c.1633_1634delinsTT (p.Glu545Leu)
c.1606_1607delinsTT (p.Glu536Leu)
c.1357_1358delinsTT (p.Glu453Leu)
c.1102_1103delinsTT (p.Glu368Leu)
c.1639_1640delinsTT (p.Glu547Leu)
c.1561_1562delinsTT (p.Glu521Leu)
c.1531_1532delinsTT (p.Glu511Leu)
c.1510_1511delinsTT (p.Glu504Leu)
c.1486_1487delinsTT (p.Glu496Leu)
c.1441_1442delinsTT (p.Glu481Leu)
c.1402_1403delinsTT (p.Glu468Leu)
c.1312_1313delinsTT (p.Glu438Leu)
c.1267_1268delinsTT (p.Glu423Leu)
c.1690_1691delinsTT (p.Glu564Leu)
c.1645_1646delinsTT (p.Glu549Leu)
c.1699_1700delinsTT (p.Glu567Leu)
c.1396_1397delinsTT (p.Glu466Leu)
c.1303_1304delinsTT (p.Glu435Leu)
c.1300_1301delinsTT (p.Glu434Leu)
c.1231_1232delinsTT (p.Glu411Leu)
c.1195_1196delinsTT (p.Glu399Leu)
c.1192_1193delinsTT (p.Glu398Leu)
c.1099_1100delinsTT (p.Glu367Leu)
c.1054_1055delinsTT (p.Glu352Leu)
 ClinVar dbSNP
2g.127048582C>ACA348373543BIN1c.1309G>T (p.Glu437Ter)
c.1726G>T (p.Glu576Ter)
c.1438G>T (p.Glu480Ter)
c.1501G>T (p.Glu501Ter)
c.1174G>T (p.Glu392Ter)
c.1465G>T (p.Glu489Ter)
c.1597G>T (p.Glu533Ter)
c.1219G>T (p.Glu407Ter)
c.1393G>T (p.Glu465Ter)
c.1372G>T (p.Glu458Ter)
c.1264G>T (p.Glu422Ter)
n.4592G>T
c.1771G>T (p.Glu591Ter)
c.1678G>T (p.Glu560Ter)
c.1633G>T (p.Glu545Ter)
c.1606G>T (p.Glu536Ter)
c.1357G>T (p.Glu453Ter)
c.1102G>T (p.Glu368Ter)
c.1639G>T (p.Glu547Ter)
c.1561G>T (p.Glu521Ter)
c.1531G>T (p.Glu511Ter)
c.1510G>T (p.Glu504Ter)
c.1486G>T (p.Glu496Ter)
c.1441G>T (p.Glu481Ter)
c.1402G>T (p.Glu468Ter)
c.1312G>T (p.Glu438Ter)
c.1267G>T (p.Glu423Ter)
c.1690G>T (p.Glu564Ter)
c.1645G>T (p.Glu549Ter)
c.1699G>T (p.Glu567Ter)
c.1396G>T (p.Glu466Ter)
c.1303G>T (p.Glu435Ter)
c.1300G>T (p.Glu434Ter)
c.1231G>T (p.Glu411Ter)
c.1195G>T (p.Glu399Ter)
c.1192G>T (p.Glu398Ter)
c.1099G>T (p.Glu367Ter)
c.1054G>T (p.Glu352Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.127048582C=CA1286710725BIN1c.1309G= (p.Glu437=)
c.1726G= (p.Glu576=)
c.1438G= (p.Glu480=)
c.1501G= (p.Glu501=)
c.1174G= (p.Glu392=)
c.1465G= (p.Glu489=)
c.1597G= (p.Glu533=)
c.1219G= (p.Glu407=)
c.1393G= (p.Glu465=)
c.1372G= (p.Glu458=)
c.1264G= (p.Glu422=)
n.4592G=
c.1771G= (p.Glu591=)
c.1678G= (p.Glu560=)
c.1633G= (p.Glu545=)
c.1606G= (p.Glu536=)
c.1357G= (p.Glu453=)
c.1102G= (p.Glu368=)
c.1639G= (p.Glu547=)
c.1561G= (p.Glu521=)
c.1531G= (p.Glu511=)
c.1510G= (p.Glu504=)
c.1486G= (p.Glu496=)
c.1441G= (p.Glu481=)
c.1402G= (p.Glu468=)
c.1312G= (p.Glu438=)
c.1267G= (p.Glu423=)
c.1690G= (p.Glu564=)
c.1645G= (p.Glu549=)
c.1699G= (p.Glu567=)
c.1396G= (p.Glu466=)
c.1303G= (p.Glu435=)
c.1300G= (p.Glu434=)
c.1231G= (p.Glu411=)
c.1195G= (p.Glu399=)
c.1192G= (p.Glu398=)
c.1099G= (p.Glu367=)
c.1054G= (p.Glu352=)
2g.127048582C>GCA348373545BIN1c.1309G>C (p.Glu437Gln)
c.1726G>C (p.Glu576Gln)
c.1438G>C (p.Glu480Gln)
c.1501G>C (p.Glu501Gln)
c.1174G>C (p.Glu392Gln)
c.1465G>C (p.Glu489Gln)
c.1597G>C (p.Glu533Gln)
c.1219G>C (p.Glu407Gln)
c.1393G>C (p.Glu465Gln)
c.1372G>C (p.Glu458Gln)
c.1264G>C (p.Glu422Gln)
n.4592G>C
c.1771G>C (p.Glu591Gln)
c.1678G>C (p.Glu560Gln)
c.1633G>C (p.Glu545Gln)
c.1606G>C (p.Glu536Gln)
c.1357G>C (p.Glu453Gln)
c.1102G>C (p.Glu368Gln)
c.1639G>C (p.Glu547Gln)
c.1561G>C (p.Glu521Gln)
c.1531G>C (p.Glu511Gln)
c.1510G>C (p.Glu504Gln)
c.1486G>C (p.Glu496Gln)
c.1441G>C (p.Glu481Gln)
c.1402G>C (p.Glu468Gln)
c.1312G>C (p.Glu438Gln)
c.1267G>C (p.Glu423Gln)
c.1690G>C (p.Glu564Gln)
c.1645G>C (p.Glu549Gln)
c.1699G>C (p.Glu567Gln)
c.1396G>C (p.Glu466Gln)
c.1303G>C (p.Glu435Gln)
c.1300G>C (p.Glu434Gln)
c.1231G>C (p.Glu411Gln)
c.1195G>C (p.Glu399Gln)
c.1192G>C (p.Glu398Gln)
c.1099G>C (p.Glu367Gln)
c.1054G>C (p.Glu352Gln)
 dbSNP
2g.127048582C>TCA1856932BIN1c.1309G>A (p.Glu437Lys)
c.1726G>A (p.Glu576Lys)
c.1438G>A (p.Glu480Lys)
c.1501G>A (p.Glu501Lys)
c.1174G>A (p.Glu392Lys)
c.1465G>A (p.Glu489Lys)
c.1597G>A (p.Glu533Lys)
c.1219G>A (p.Glu407Lys)
c.1393G>A (p.Glu465Lys)
c.1372G>A (p.Glu458Lys)
c.1264G>A (p.Glu422Lys)
n.4592G>A
c.1771G>A (p.Glu591Lys)
c.1678G>A (p.Glu560Lys)
c.1633G>A (p.Glu545Lys)
c.1606G>A (p.Glu536Lys)
c.1357G>A (p.Glu453Lys)
c.1102G>A (p.Glu368Lys)
c.1639G>A (p.Glu547Lys)
c.1561G>A (p.Glu521Lys)
c.1531G>A (p.Glu511Lys)
c.1510G>A (p.Glu504Lys)
c.1486G>A (p.Glu496Lys)
c.1441G>A (p.Glu481Lys)
c.1402G>A (p.Glu468Lys)
c.1312G>A (p.Glu438Lys)
c.1267G>A (p.Glu423Lys)
c.1690G>A (p.Glu564Lys)
c.1645G>A (p.Glu549Lys)
c.1699G>A (p.Glu567Lys)
c.1396G>A (p.Glu466Lys)
c.1303G>A (p.Glu435Lys)
c.1300G>A (p.Glu434Lys)
c.1231G>A (p.Glu411Lys)
c.1195G>A (p.Glu399Lys)
c.1192G>A (p.Glu398Lys)
c.1099G>A (p.Glu367Lys)
c.1054G>A (p.Glu352Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048583C>ACA348373546BIN1c.1308G>T (p.Lys436Asn)
c.1725G>T (p.Lys575Asn)
c.1437G>T (p.Lys479Asn)
c.1500G>T (p.Lys500Asn)
c.1173G>T (p.Lys391Asn)
c.1464G>T (p.Lys488Asn)
c.1596G>T (p.Lys532Asn)
c.1218G>T (p.Lys406Asn)
c.1392G>T (p.Lys464Asn)
c.1371G>T (p.Lys457Asn)
c.1263G>T (p.Lys421Asn)
n.4591G>T
c.1770G>T (p.Lys590Asn)
c.1677G>T (p.Lys559Asn)
c.1632G>T (p.Lys544Asn)
c.1605G>T (p.Lys535Asn)
c.1356G>T (p.Lys452Asn)
c.1101G>T (p.Lys367Asn)
c.1638G>T (p.Lys546Asn)
c.1560G>T (p.Lys520Asn)
c.1530G>T (p.Lys510Asn)
c.1509G>T (p.Lys503Asn)
c.1485G>T (p.Lys495Asn)
c.1440G>T (p.Lys480Asn)
c.1401G>T (p.Lys467Asn)
c.1311G>T (p.Lys437Asn)
c.1266G>T (p.Lys422Asn)
c.1689G>T (p.Lys563Asn)
c.1644G>T (p.Lys548Asn)
c.1698G>T (p.Lys566Asn)
c.1395G>T (p.Lys465Asn)
c.1302G>T (p.Lys434Asn)
c.1299G>T (p.Lys433Asn)
c.1230G>T (p.Lys410Asn)
c.1194G>T (p.Lys398Asn)
c.1191G>T (p.Lys397Asn)
c.1098G>T (p.Lys366Asn)
c.1053G>T (p.Lys351Asn)
2g.127048583C>GCA348373549BIN1c.1308G>C (p.Lys436Asn)
c.1725G>C (p.Lys575Asn)
c.1437G>C (p.Lys479Asn)
c.1500G>C (p.Lys500Asn)
c.1173G>C (p.Lys391Asn)
c.1464G>C (p.Lys488Asn)
c.1596G>C (p.Lys532Asn)
c.1218G>C (p.Lys406Asn)
c.1392G>C (p.Lys464Asn)
c.1371G>C (p.Lys457Asn)
c.1263G>C (p.Lys421Asn)
n.4591G>C
c.1770G>C (p.Lys590Asn)
c.1677G>C (p.Lys559Asn)
c.1632G>C (p.Lys544Asn)
c.1605G>C (p.Lys535Asn)
c.1356G>C (p.Lys452Asn)
c.1101G>C (p.Lys367Asn)
c.1638G>C (p.Lys546Asn)
c.1560G>C (p.Lys520Asn)
c.1530G>C (p.Lys510Asn)
c.1509G>C (p.Lys503Asn)
c.1485G>C (p.Lys495Asn)
c.1440G>C (p.Lys480Asn)
c.1401G>C (p.Lys467Asn)
c.1311G>C (p.Lys437Asn)
c.1266G>C (p.Lys422Asn)
c.1689G>C (p.Lys563Asn)
c.1644G>C (p.Lys548Asn)
c.1698G>C (p.Lys566Asn)
c.1395G>C (p.Lys465Asn)
c.1302G>C (p.Lys434Asn)
c.1299G>C (p.Lys433Asn)
c.1230G>C (p.Lys410Asn)
c.1194G>C (p.Lys398Asn)
c.1191G>C (p.Lys397Asn)
c.1098G>C (p.Lys366Asn)
c.1053G>C (p.Lys351Asn)
 gnomAD v4
2g.127048583C>TCA428593674BIN1c.1308G>A (p.Lys436=)
c.1725G>A (p.Lys575=)
c.1437G>A (p.Lys479=)
c.1500G>A (p.Lys500=)
c.1173G>A (p.Lys391=)
c.1464G>A (p.Lys488=)
c.1596G>A (p.Lys532=)
c.1218G>A (p.Lys406=)
c.1392G>A (p.Lys464=)
c.1371G>A (p.Lys457=)
c.1263G>A (p.Lys421=)
n.4591G>A
c.1770G>A (p.Lys590=)
c.1677G>A (p.Lys559=)
c.1632G>A (p.Lys544=)
c.1605G>A (p.Lys535=)
c.1356G>A (p.Lys452=)
c.1101G>A (p.Lys367=)
c.1638G>A (p.Lys546=)
c.1560G>A (p.Lys520=)
c.1530G>A (p.Lys510=)
c.1509G>A (p.Lys503=)
c.1485G>A (p.Lys495=)
c.1440G>A (p.Lys480=)
c.1401G>A (p.Lys467=)
c.1311G>A (p.Lys437=)
c.1266G>A (p.Lys422=)
c.1689G>A (p.Lys563=)
c.1644G>A (p.Lys548=)
c.1698G>A (p.Lys566=)
c.1395G>A (p.Lys465=)
c.1302G>A (p.Lys434=)
c.1299G>A (p.Lys433=)
c.1230G>A (p.Lys410=)
c.1194G>A (p.Lys398=)
c.1191G>A (p.Lys397=)
c.1098G>A (p.Lys366=)
c.1053G>A (p.Lys351=)
2g.127048584T>ACA348373551BIN1c.1307A>T (p.Lys436Met)
c.1724A>T (p.Lys575Met)
c.1436A>T (p.Lys479Met)
c.1499A>T (p.Lys500Met)
c.1172A>T (p.Lys391Met)
c.1463A>T (p.Lys488Met)
c.1595A>T (p.Lys532Met)
c.1217A>T (p.Lys406Met)
c.1391A>T (p.Lys464Met)
c.1370A>T (p.Lys457Met)
c.1262A>T (p.Lys421Met)
n.4590A>T
c.1769A>T (p.Lys590Met)
c.1676A>T (p.Lys559Met)
c.1631A>T (p.Lys544Met)
c.1604A>T (p.Lys535Met)
c.1355A>T (p.Lys452Met)
c.1100A>T (p.Lys367Met)
c.1637A>T (p.Lys546Met)
c.1559A>T (p.Lys520Met)
c.1529A>T (p.Lys510Met)
c.1508A>T (p.Lys503Met)
c.1484A>T (p.Lys495Met)
c.1439A>T (p.Lys480Met)
c.1400A>T (p.Lys467Met)
c.1310A>T (p.Lys437Met)
c.1265A>T (p.Lys422Met)
c.1688A>T (p.Lys563Met)
c.1643A>T (p.Lys548Met)
c.1697A>T (p.Lys566Met)
c.1394A>T (p.Lys465Met)
c.1301A>T (p.Lys434Met)
c.1298A>T (p.Lys433Met)
c.1229A>T (p.Lys410Met)
c.1193A>T (p.Lys398Met)
c.1190A>T (p.Lys397Met)
c.1097A>T (p.Lys366Met)
c.1052A>T (p.Lys351Met)
 gnomAD v4
2g.127048584T>CCA348373552BIN1c.1307A>G (p.Lys436Arg)
c.1724A>G (p.Lys575Arg)
c.1436A>G (p.Lys479Arg)
c.1499A>G (p.Lys500Arg)
c.1172A>G (p.Lys391Arg)
c.1463A>G (p.Lys488Arg)
c.1595A>G (p.Lys532Arg)
c.1217A>G (p.Lys406Arg)
c.1391A>G (p.Lys464Arg)
c.1370A>G (p.Lys457Arg)
c.1262A>G (p.Lys421Arg)
n.4590A>G
c.1769A>G (p.Lys590Arg)
c.1676A>G (p.Lys559Arg)
c.1631A>G (p.Lys544Arg)
c.1604A>G (p.Lys535Arg)
c.1355A>G (p.Lys452Arg)
c.1100A>G (p.Lys367Arg)
c.1637A>G (p.Lys546Arg)
c.1559A>G (p.Lys520Arg)
c.1529A>G (p.Lys510Arg)
c.1508A>G (p.Lys503Arg)
c.1484A>G (p.Lys495Arg)
c.1439A>G (p.Lys480Arg)
c.1400A>G (p.Lys467Arg)
c.1310A>G (p.Lys437Arg)
c.1265A>G (p.Lys422Arg)
c.1688A>G (p.Lys563Arg)
c.1643A>G (p.Lys548Arg)
c.1697A>G (p.Lys566Arg)
c.1394A>G (p.Lys465Arg)
c.1301A>G (p.Lys434Arg)
c.1298A>G (p.Lys433Arg)
c.1229A>G (p.Lys410Arg)
c.1193A>G (p.Lys398Arg)
c.1190A>G (p.Lys397Arg)
c.1097A>G (p.Lys366Arg)
c.1052A>G (p.Lys351Arg)
 dbSNP COSMIC COSMIC
2g.127048584T>GCA348373554BIN1c.1307A>C (p.Lys436Thr)
c.1724A>C (p.Lys575Thr)
c.1436A>C (p.Lys479Thr)
c.1499A>C (p.Lys500Thr)
c.1172A>C (p.Lys391Thr)
c.1463A>C (p.Lys488Thr)
c.1595A>C (p.Lys532Thr)
c.1217A>C (p.Lys406Thr)
c.1391A>C (p.Lys464Thr)
c.1370A>C (p.Lys457Thr)
c.1262A>C (p.Lys421Thr)
n.4590A>C
c.1769A>C (p.Lys590Thr)
c.1676A>C (p.Lys559Thr)
c.1631A>C (p.Lys544Thr)
c.1604A>C (p.Lys535Thr)
c.1355A>C (p.Lys452Thr)
c.1100A>C (p.Lys367Thr)
c.1637A>C (p.Lys546Thr)
c.1559A>C (p.Lys520Thr)
c.1529A>C (p.Lys510Thr)
c.1508A>C (p.Lys503Thr)
c.1484A>C (p.Lys495Thr)
c.1439A>C (p.Lys480Thr)
c.1400A>C (p.Lys467Thr)
c.1310A>C (p.Lys437Thr)
c.1265A>C (p.Lys422Thr)
c.1688A>C (p.Lys563Thr)
c.1643A>C (p.Lys548Thr)
c.1697A>C (p.Lys566Thr)
c.1394A>C (p.Lys465Thr)
c.1301A>C (p.Lys434Thr)
c.1298A>C (p.Lys433Thr)
c.1229A>C (p.Lys410Thr)
c.1193A>C (p.Lys398Thr)
c.1190A>C (p.Lys397Thr)
c.1097A>C (p.Lys366Thr)
c.1052A>C (p.Lys351Thr)
2g.127048584T=CA1286710726BIN1c.1307A= (p.Lys436=)
c.1724A= (p.Lys575=)
c.1436A= (p.Lys479=)
c.1499A= (p.Lys500=)
c.1172A= (p.Lys391=)
c.1463A= (p.Lys488=)
c.1595A= (p.Lys532=)
c.1217A= (p.Lys406=)
c.1391A= (p.Lys464=)
c.1370A= (p.Lys457=)
c.1262A= (p.Lys421=)
n.4590A=
c.1769A= (p.Lys590=)
c.1676A= (p.Lys559=)
c.1631A= (p.Lys544=)
c.1604A= (p.Lys535=)
c.1355A= (p.Lys452=)
c.1100A= (p.Lys367=)
c.1637A= (p.Lys546=)
c.1559A= (p.Lys520=)
c.1529A= (p.Lys510=)
c.1508A= (p.Lys503=)
c.1484A= (p.Lys495=)
c.1439A= (p.Lys480=)
c.1400A= (p.Lys467=)
c.1310A= (p.Lys437=)
c.1265A= (p.Lys422=)
c.1688A= (p.Lys563=)
c.1643A= (p.Lys548=)
c.1697A= (p.Lys566=)
c.1394A= (p.Lys465=)
c.1301A= (p.Lys434=)
c.1298A= (p.Lys433=)
c.1229A= (p.Lys410=)
c.1193A= (p.Lys398=)
c.1190A= (p.Lys397=)
c.1097A= (p.Lys366=)
c.1052A= (p.Lys351=)
2g.127048585T>ACA119460BIN1c.1306A>T (p.Lys436Ter)
c.1723A>T (p.Lys575Ter)
c.1435A>T (p.Lys479Ter)
c.1498A>T (p.Lys500Ter)
c.1171A>T (p.Lys391Ter)
c.1462A>T (p.Lys488Ter)
c.1594A>T (p.Lys532Ter)
c.1216A>T (p.Lys406Ter)
c.1390A>T (p.Lys464Ter)
c.1369A>T (p.Lys457Ter)
c.1261A>T (p.Lys421Ter)
n.4589A>T
c.1768A>T (p.Lys590Ter)
c.1675A>T (p.Lys559Ter)
c.1630A>T (p.Lys544Ter)
c.1603A>T (p.Lys535Ter)
c.1354A>T (p.Lys452Ter)
c.1099A>T (p.Lys367Ter)
c.1636A>T (p.Lys546Ter)
c.1558A>T (p.Lys520Ter)
c.1528A>T (p.Lys510Ter)
c.1507A>T (p.Lys503Ter)
c.1483A>T (p.Lys495Ter)
c.1438A>T (p.Lys480Ter)
c.1399A>T (p.Lys467Ter)
c.1309A>T (p.Lys437Ter)
c.1264A>T (p.Lys422Ter)
c.1687A>T (p.Lys563Ter)
c.1642A>T (p.Lys548Ter)
c.1696A>T (p.Lys566Ter)
c.1393A>T (p.Lys465Ter)
c.1300A>T (p.Lys434Ter)
c.1297A>T (p.Lys433Ter)
c.1228A>T (p.Lys410Ter)
c.1192A>T (p.Lys398Ter)
c.1189A>T (p.Lys397Ter)
c.1096A>T (p.Lys366Ter)
c.1051A>T (p.Lys351Ter)
 ClinVar dbSNP
2g.127048585T>CCA348373555BIN1c.1306A>G (p.Lys436Glu)
c.1723A>G (p.Lys575Glu)
c.1435A>G (p.Lys479Glu)
c.1498A>G (p.Lys500Glu)
c.1171A>G (p.Lys391Glu)
c.1462A>G (p.Lys488Glu)
c.1594A>G (p.Lys532Glu)
c.1216A>G (p.Lys406Glu)
c.1390A>G (p.Lys464Glu)
c.1369A>G (p.Lys457Glu)
c.1261A>G (p.Lys421Glu)
n.4589A>G
c.1768A>G (p.Lys590Glu)
c.1675A>G (p.Lys559Glu)
c.1630A>G (p.Lys544Glu)
c.1603A>G (p.Lys535Glu)
c.1354A>G (p.Lys452Glu)
c.1099A>G (p.Lys367Glu)
c.1636A>G (p.Lys546Glu)
c.1558A>G (p.Lys520Glu)
c.1528A>G (p.Lys510Glu)
c.1507A>G (p.Lys503Glu)
c.1483A>G (p.Lys495Glu)
c.1438A>G (p.Lys480Glu)
c.1399A>G (p.Lys467Glu)
c.1309A>G (p.Lys437Glu)
c.1264A>G (p.Lys422Glu)
c.1687A>G (p.Lys563Glu)
c.1642A>G (p.Lys548Glu)
c.1696A>G (p.Lys566Glu)
c.1393A>G (p.Lys465Glu)
c.1300A>G (p.Lys434Glu)
c.1297A>G (p.Lys433Glu)
c.1228A>G (p.Lys410Glu)
c.1192A>G (p.Lys398Glu)
c.1189A>G (p.Lys397Glu)
c.1096A>G (p.Lys366Glu)
c.1051A>G (p.Lys351Glu)
 gnomAD v4
2g.127048585T>GCA348373556BIN1c.1306A>C (p.Lys436Gln)
c.1723A>C (p.Lys575Gln)
c.1435A>C (p.Lys479Gln)
c.1498A>C (p.Lys500Gln)
c.1171A>C (p.Lys391Gln)
c.1462A>C (p.Lys488Gln)
c.1594A>C (p.Lys532Gln)
c.1216A>C (p.Lys406Gln)
c.1390A>C (p.Lys464Gln)
c.1369A>C (p.Lys457Gln)
c.1261A>C (p.Lys421Gln)
n.4589A>C
c.1768A>C (p.Lys590Gln)
c.1675A>C (p.Lys559Gln)
c.1630A>C (p.Lys544Gln)
c.1603A>C (p.Lys535Gln)
c.1354A>C (p.Lys452Gln)
c.1099A>C (p.Lys367Gln)
c.1636A>C (p.Lys546Gln)
c.1558A>C (p.Lys520Gln)
c.1528A>C (p.Lys510Gln)
c.1507A>C (p.Lys503Gln)
c.1483A>C (p.Lys495Gln)
c.1438A>C (p.Lys480Gln)
c.1399A>C (p.Lys467Gln)
c.1309A>C (p.Lys437Gln)
c.1264A>C (p.Lys422Gln)
c.1687A>C (p.Lys563Gln)
c.1642A>C (p.Lys548Gln)
c.1696A>C (p.Lys566Gln)
c.1393A>C (p.Lys465Gln)
c.1300A>C (p.Lys434Gln)
c.1297A>C (p.Lys433Gln)
c.1228A>C (p.Lys410Gln)
c.1192A>C (p.Lys398Gln)
c.1189A>C (p.Lys397Gln)
c.1096A>C (p.Lys366Gln)
c.1051A>C (p.Lys351Gln)
2g.127048585T=CA1286710727BIN1c.1306A= (p.Lys436=)
c.1723A= (p.Lys575=)
c.1435A= (p.Lys479=)
c.1498A= (p.Lys500=)
c.1171A= (p.Lys391=)
c.1462A= (p.Lys488=)
c.1594A= (p.Lys532=)
c.1216A= (p.Lys406=)
c.1390A= (p.Lys464=)
c.1369A= (p.Lys457=)
c.1261A= (p.Lys421=)
n.4589A=
c.1768A= (p.Lys590=)
c.1675A= (p.Lys559=)
c.1630A= (p.Lys544=)
c.1603A= (p.Lys535=)
c.1354A= (p.Lys452=)
c.1099A= (p.Lys367=)
c.1636A= (p.Lys546=)
c.1558A= (p.Lys520=)
c.1528A= (p.Lys510=)
c.1507A= (p.Lys503=)
c.1483A= (p.Lys495=)
c.1438A= (p.Lys480=)
c.1399A= (p.Lys467=)
c.1309A= (p.Lys437=)
c.1264A= (p.Lys422=)
c.1687A= (p.Lys563=)
c.1642A= (p.Lys548=)
c.1696A= (p.Lys566=)
c.1393A= (p.Lys465=)
c.1300A= (p.Lys434=)
c.1297A= (p.Lys433=)
c.1228A= (p.Lys410=)
c.1192A= (p.Lys398=)
c.1189A= (p.Lys397=)
c.1096A= (p.Lys366=)
c.1051A= (p.Lys351=)
2g.127048586G>ACA428593676BIN1c.1305C>T (p.His435=)
c.1722C>T (p.His574=)
c.1434C>T (p.His478=)
c.1497C>T (p.His499=)
c.1170C>T (p.His390=)
c.1461C>T (p.His487=)
c.1593C>T (p.His531=)
c.1215C>T (p.His405=)
c.1389C>T (p.His463=)
c.1368C>T (p.His456=)
c.1260C>T (p.His420=)
n.4588C>T
c.1767C>T (p.His589=)
c.1674C>T (p.His558=)
c.1629C>T (p.His543=)
c.1602C>T (p.His534=)
c.1353C>T (p.His451=)
c.1098C>T (p.His366=)
c.1635C>T (p.His545=)
c.1557C>T (p.His519=)
c.1527C>T (p.His509=)
c.1506C>T (p.His502=)
c.1482C>T (p.His494=)
c.1437C>T (p.His479=)
c.1398C>T (p.His466=)
c.1308C>T (p.His436=)
c.1263C>T (p.His421=)
c.1686C>T (p.His562=)
c.1641C>T (p.His547=)
c.1695C>T (p.His565=)
c.1392C>T (p.His464=)
c.1299C>T (p.His433=)
c.1296C>T (p.His432=)
c.1227C>T (p.His409=)
c.1191C>T (p.His397=)
c.1188C>T (p.His396=)
c.1095C>T (p.His365=)
c.1050C>T (p.His350=)
2g.127048586G>CCA348373560BIN1c.1305C>G (p.His435Gln)
c.1722C>G (p.His574Gln)
c.1434C>G (p.His478Gln)
c.1497C>G (p.His499Gln)
c.1170C>G (p.His390Gln)
c.1461C>G (p.His487Gln)
c.1593C>G (p.His531Gln)
c.1215C>G (p.His405Gln)
c.1389C>G (p.His463Gln)
c.1368C>G (p.His456Gln)
c.1260C>G (p.His420Gln)
n.4588C>G
c.1767C>G (p.His589Gln)
c.1674C>G (p.His558Gln)
c.1629C>G (p.His543Gln)
c.1602C>G (p.His534Gln)
c.1353C>G (p.His451Gln)
c.1098C>G (p.His366Gln)
c.1635C>G (p.His545Gln)
c.1557C>G (p.His519Gln)
c.1527C>G (p.His509Gln)
c.1506C>G (p.His502Gln)
c.1482C>G (p.His494Gln)
c.1437C>G (p.His479Gln)
c.1398C>G (p.His466Gln)
c.1308C>G (p.His436Gln)
c.1263C>G (p.His421Gln)
c.1686C>G (p.His562Gln)
c.1641C>G (p.His547Gln)
c.1695C>G (p.His565Gln)
c.1392C>G (p.His464Gln)
c.1299C>G (p.His433Gln)
c.1296C>G (p.His432Gln)
c.1227C>G (p.His409Gln)
c.1191C>G (p.His397Gln)
c.1188C>G (p.His396Gln)
c.1095C>G (p.His365Gln)
c.1050C>G (p.His350Gln)
2g.127048586G=CA1286710728BIN1c.1305C= (p.His435=)
c.1722C= (p.His574=)
c.1434C= (p.His478=)
c.1497C= (p.His499=)
c.1170C= (p.His390=)
c.1461C= (p.His487=)
c.1593C= (p.His531=)
c.1215C= (p.His405=)
c.1389C= (p.His463=)
c.1368C= (p.His456=)
c.1260C= (p.His420=)
n.4588C=
c.1767C= (p.His589=)
c.1674C= (p.His558=)
c.1629C= (p.His543=)
c.1602C= (p.His534=)
c.1353C= (p.His451=)
c.1098C= (p.His366=)
c.1635C= (p.His545=)
c.1557C= (p.His519=)
c.1527C= (p.His509=)
c.1506C= (p.His502=)
c.1482C= (p.His494=)
c.1437C= (p.His479=)
c.1398C= (p.His466=)
c.1308C= (p.His436=)
c.1263C= (p.His421=)
c.1686C= (p.His562=)
c.1641C= (p.His547=)
c.1695C= (p.His565=)
c.1392C= (p.His464=)
c.1299C= (p.His433=)
c.1296C= (p.His432=)
c.1227C= (p.His409=)
c.1191C= (p.His397=)
c.1188C= (p.His396=)
c.1095C= (p.His365=)
c.1050C= (p.His350=)
2g.127048586G>TCA348373562BIN1c.1305C>A (p.His435Gln)
c.1722C>A (p.His574Gln)
c.1434C>A (p.His478Gln)
c.1497C>A (p.His499Gln)
c.1170C>A (p.His390Gln)
c.1461C>A (p.His487Gln)
c.1593C>A (p.His531Gln)
c.1215C>A (p.His405Gln)
c.1389C>A (p.His463Gln)
c.1368C>A (p.His456Gln)
c.1260C>A (p.His420Gln)
n.4588C>A
c.1767C>A (p.His589Gln)
c.1674C>A (p.His558Gln)
c.1629C>A (p.His543Gln)
c.1602C>A (p.His534Gln)
c.1353C>A (p.His451Gln)
c.1098C>A (p.His366Gln)
c.1635C>A (p.His545Gln)
c.1557C>A (p.His519Gln)
c.1527C>A (p.His509Gln)
c.1506C>A (p.His502Gln)
c.1482C>A (p.His494Gln)
c.1437C>A (p.His479Gln)
c.1398C>A (p.His466Gln)
c.1308C>A (p.His436Gln)
c.1263C>A (p.His421Gln)
c.1686C>A (p.His562Gln)
c.1641C>A (p.His547Gln)
c.1695C>A (p.His565Gln)
c.1392C>A (p.His464Gln)
c.1299C>A (p.His433Gln)
c.1296C>A (p.His432Gln)
c.1227C>A (p.His409Gln)
c.1191C>A (p.His397Gln)
c.1188C>A (p.His396Gln)
c.1095C>A (p.His365Gln)
c.1050C>A (p.His350Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.127048587T>ACA348373563BIN1c.1304A>T (p.His435Leu)
c.1721A>T (p.His574Leu)
c.1433A>T (p.His478Leu)
c.1496A>T (p.His499Leu)
c.1169A>T (p.His390Leu)
c.1460A>T (p.His487Leu)
c.1592A>T (p.His531Leu)
c.1214A>T (p.His405Leu)
c.1388A>T (p.His463Leu)
c.1367A>T (p.His456Leu)
c.1259A>T (p.His420Leu)
n.4587A>T
c.1766A>T (p.His589Leu)
c.1673A>T (p.His558Leu)
c.1628A>T (p.His543Leu)
c.1601A>T (p.His534Leu)
c.1352A>T (p.His451Leu)
c.1097A>T (p.His366Leu)
c.1634A>T (p.His545Leu)
c.1556A>T (p.His519Leu)
c.1526A>T (p.His509Leu)
c.1505A>T (p.His502Leu)
c.1481A>T (p.His494Leu)
c.1436A>T (p.His479Leu)
c.1397A>T (p.His466Leu)
c.1307A>T (p.His436Leu)
c.1262A>T (p.His421Leu)
c.1685A>T (p.His562Leu)
c.1640A>T (p.His547Leu)
c.1694A>T (p.His565Leu)
c.1391A>T (p.His464Leu)
c.1298A>T (p.His433Leu)
c.1295A>T (p.His432Leu)
c.1226A>T (p.His409Leu)
c.1190A>T (p.His397Leu)
c.1187A>T (p.His396Leu)
c.1094A>T (p.His365Leu)
c.1049A>T (p.His350Leu)
2g.127048587T>CCA348373567BIN1c.1304A>G (p.His435Arg)
c.1721A>G (p.His574Arg)
c.1433A>G (p.His478Arg)
c.1496A>G (p.His499Arg)
c.1169A>G (p.His390Arg)
c.1460A>G (p.His487Arg)
c.1592A>G (p.His531Arg)
c.1214A>G (p.His405Arg)
c.1388A>G (p.His463Arg)
c.1367A>G (p.His456Arg)
c.1259A>G (p.His420Arg)
n.4587A>G
c.1766A>G (p.His589Arg)
c.1673A>G (p.His558Arg)
c.1628A>G (p.His543Arg)
c.1601A>G (p.His534Arg)
c.1352A>G (p.His451Arg)
c.1097A>G (p.His366Arg)
c.1634A>G (p.His545Arg)
c.1556A>G (p.His519Arg)
c.1526A>G (p.His509Arg)
c.1505A>G (p.His502Arg)
c.1481A>G (p.His494Arg)
c.1436A>G (p.His479Arg)
c.1397A>G (p.His466Arg)
c.1307A>G (p.His436Arg)
c.1262A>G (p.His421Arg)
c.1685A>G (p.His562Arg)
c.1640A>G (p.His547Arg)
c.1694A>G (p.His565Arg)
c.1391A>G (p.His464Arg)
c.1298A>G (p.His433Arg)
c.1295A>G (p.His432Arg)
c.1226A>G (p.His409Arg)
c.1190A>G (p.His397Arg)
c.1187A>G (p.His396Arg)
c.1094A>G (p.His365Arg)
c.1049A>G (p.His350Arg)
 dbSNP
2g.127048587T>GCA348373568BIN1c.1304A>C (p.His435Pro)
c.1721A>C (p.His574Pro)
c.1433A>C (p.His478Pro)
c.1496A>C (p.His499Pro)
c.1169A>C (p.His390Pro)
c.1460A>C (p.His487Pro)
c.1592A>C (p.His531Pro)
c.1214A>C (p.His405Pro)
c.1388A>C (p.His463Pro)
c.1367A>C (p.His456Pro)
c.1259A>C (p.His420Pro)
n.4587A>C
c.1766A>C (p.His589Pro)
c.1673A>C (p.His558Pro)
c.1628A>C (p.His543Pro)
c.1601A>C (p.His534Pro)
c.1352A>C (p.His451Pro)
c.1097A>C (p.His366Pro)
c.1634A>C (p.His545Pro)
c.1556A>C (p.His519Pro)
c.1526A>C (p.His509Pro)
c.1505A>C (p.His502Pro)
c.1481A>C (p.His494Pro)
c.1436A>C (p.His479Pro)
c.1397A>C (p.His466Pro)
c.1307A>C (p.His436Pro)
c.1262A>C (p.His421Pro)
c.1685A>C (p.His562Pro)
c.1640A>C (p.His547Pro)
c.1694A>C (p.His565Pro)
c.1391A>C (p.His464Pro)
c.1298A>C (p.His433Pro)
c.1295A>C (p.His432Pro)
c.1226A>C (p.His409Pro)
c.1190A>C (p.His397Pro)
c.1187A>C (p.His396Pro)
c.1094A>C (p.His365Pro)
c.1049A>C (p.His350Pro)
2g.127048587T=CA1286710729BIN1c.1304A= (p.His435=)
c.1721A= (p.His574=)
c.1433A= (p.His478=)
c.1496A= (p.His499=)
c.1169A= (p.His390=)
c.1460A= (p.His487=)
c.1592A= (p.His531=)
c.1214A= (p.His405=)
c.1388A= (p.His463=)
c.1367A= (p.His456=)
c.1259A= (p.His420=)
n.4587A=
c.1766A= (p.His589=)
c.1673A= (p.His558=)
c.1628A= (p.His543=)
c.1601A= (p.His534=)
c.1352A= (p.His451=)
c.1097A= (p.His366=)
c.1634A= (p.His545=)
c.1556A= (p.His519=)
c.1526A= (p.His509=)
c.1505A= (p.His502=)
c.1481A= (p.His494=)
c.1436A= (p.His479=)
c.1397A= (p.His466=)
c.1307A= (p.His436=)
c.1262A= (p.His421=)
c.1685A= (p.His562=)
c.1640A= (p.His547=)
c.1694A= (p.His565=)
c.1391A= (p.His464=)
c.1298A= (p.His433=)
c.1295A= (p.His432=)
c.1226A= (p.His409=)
c.1190A= (p.His397=)
c.1187A= (p.His396=)
c.1094A= (p.His365=)
c.1049A= (p.His350=)
2g.127048588G>ACA348373570BIN1c.1303C>T (p.His435Tyr)
c.1720C>T (p.His574Tyr)
c.1432C>T (p.His478Tyr)
c.1495C>T (p.His499Tyr)
c.1168C>T (p.His390Tyr)
c.1459C>T (p.His487Tyr)
c.1591C>T (p.His531Tyr)
c.1213C>T (p.His405Tyr)
c.1387C>T (p.His463Tyr)
c.1366C>T (p.His456Tyr)
c.1258C>T (p.His420Tyr)
n.4586C>T
c.1765C>T (p.His589Tyr)
c.1672C>T (p.His558Tyr)
c.1627C>T (p.His543Tyr)
c.1600C>T (p.His534Tyr)
c.1351C>T (p.His451Tyr)
c.1096C>T (p.His366Tyr)
c.1633C>T (p.His545Tyr)
c.1555C>T (p.His519Tyr)
c.1525C>T (p.His509Tyr)
c.1504C>T (p.His502Tyr)
c.1480C>T (p.His494Tyr)
c.1435C>T (p.His479Tyr)
c.1396C>T (p.His466Tyr)
c.1306C>T (p.His436Tyr)
c.1261C>T (p.His421Tyr)
c.1684C>T (p.His562Tyr)
c.1639C>T (p.His547Tyr)
c.1693C>T (p.His565Tyr)
c.1390C>T (p.His464Tyr)
c.1297C>T (p.His433Tyr)
c.1294C>T (p.His432Tyr)
c.1225C>T (p.His409Tyr)
c.1189C>T (p.His397Tyr)
c.1186C>T (p.His396Tyr)
c.1093C>T (p.His365Tyr)
c.1048C>T (p.His350Tyr)
2g.127048588G>CCA348373574BIN1c.1303C>G (p.His435Asp)
c.1720C>G (p.His574Asp)
c.1432C>G (p.His478Asp)
c.1495C>G (p.His499Asp)
c.1168C>G (p.His390Asp)
c.1459C>G (p.His487Asp)
c.1591C>G (p.His531Asp)
c.1213C>G (p.His405Asp)
c.1387C>G (p.His463Asp)
c.1366C>G (p.His456Asp)
c.1258C>G (p.His420Asp)
n.4586C>G
c.1765C>G (p.His589Asp)
c.1672C>G (p.His558Asp)
c.1627C>G (p.His543Asp)
c.1600C>G (p.His534Asp)
c.1351C>G (p.His451Asp)
c.1096C>G (p.His366Asp)
c.1633C>G (p.His545Asp)
c.1555C>G (p.His519Asp)
c.1525C>G (p.His509Asp)
c.1504C>G (p.His502Asp)
c.1480C>G (p.His494Asp)
c.1435C>G (p.His479Asp)
c.1396C>G (p.His466Asp)
c.1306C>G (p.His436Asp)
c.1261C>G (p.His421Asp)
c.1684C>G (p.His562Asp)
c.1639C>G (p.His547Asp)
c.1693C>G (p.His565Asp)
c.1390C>G (p.His464Asp)
c.1297C>G (p.His433Asp)
c.1294C>G (p.His432Asp)
c.1225C>G (p.His409Asp)
c.1189C>G (p.His397Asp)
c.1186C>G (p.His396Asp)
c.1093C>G (p.His365Asp)
c.1048C>G (p.His350Asp)
2g.127048588G>TCA348373572BIN1c.1303C>A (p.His435Asn)
c.1720C>A (p.His574Asn)
c.1432C>A (p.His478Asn)
c.1495C>A (p.His499Asn)
c.1168C>A (p.His390Asn)
c.1459C>A (p.His487Asn)
c.1591C>A (p.His531Asn)
c.1213C>A (p.His405Asn)
c.1387C>A (p.His463Asn)
c.1366C>A (p.His456Asn)
c.1258C>A (p.His420Asn)
n.4586C>A
c.1765C>A (p.His589Asn)
c.1672C>A (p.His558Asn)
c.1627C>A (p.His543Asn)
c.1600C>A (p.His534Asn)
c.1351C>A (p.His451Asn)
c.1096C>A (p.His366Asn)
c.1633C>A (p.His545Asn)
c.1555C>A (p.His519Asn)
c.1525C>A (p.His509Asn)
c.1504C>A (p.His502Asn)
c.1480C>A (p.His494Asn)
c.1435C>A (p.His479Asn)
c.1396C>A (p.His466Asn)
c.1306C>A (p.His436Asn)
c.1261C>A (p.His421Asn)
c.1684C>A (p.His562Asn)
c.1639C>A (p.His547Asn)
c.1693C>A (p.His565Asn)
c.1390C>A (p.His464Asn)
c.1297C>A (p.His433Asn)
c.1294C>A (p.His432Asn)
c.1225C>A (p.His409Asn)
c.1189C>A (p.His397Asn)
c.1186C>A (p.His396Asn)
c.1093C>A (p.His365Asn)
c.1048C>A (p.His350Asn)
2g.127048589C>ACA348373575BIN1c.1302G>T (p.Gln434His)
c.1719G>T (p.Gln573His)
c.1431G>T (p.Gln477His)
c.1494G>T (p.Gln498His)
c.1167G>T (p.Gln389His)
c.1458G>T (p.Gln486His)
c.1590G>T (p.Gln530His)
c.1212G>T (p.Gln404His)
c.1386G>T (p.Gln462His)
c.1365G>T (p.Gln455His)
c.1257G>T (p.Gln419His)
n.4585G>T
c.1764G>T (p.Gln588His)
c.1671G>T (p.Gln557His)
c.1626G>T (p.Gln542His)
c.1599G>T (p.Gln533His)
c.1350G>T (p.Gln450His)
c.1095G>T (p.Gln365His)
c.1632G>T (p.Gln544His)
c.1554G>T (p.Gln518His)
c.1524G>T (p.Gln508His)
c.1503G>T (p.Gln501His)
c.1479G>T (p.Gln493His)
c.1434G>T (p.Gln478His)
c.1395G>T (p.Gln465His)
c.1305G>T (p.Gln435His)
c.1260G>T (p.Gln420His)
c.1683G>T (p.Gln561His)
c.1638G>T (p.Gln546His)
c.1692G>T (p.Gln564His)
c.1389G>T (p.Gln463His)
c.1296G>T (p.Gln432His)
c.1293G>T (p.Gln431His)
c.1224G>T (p.Gln408His)
c.1188G>T (p.Gln396His)
c.1185G>T (p.Gln395His)
c.1092G>T (p.Gln364His)
c.1047G>T (p.Gln349His)
 COSMIC COSMIC
2g.127048589C>GCA348373577BIN1c.1302G>C (p.Gln434His)
c.1719G>C (p.Gln573His)
c.1431G>C (p.Gln477His)
c.1494G>C (p.Gln498His)
c.1167G>C (p.Gln389His)
c.1458G>C (p.Gln486His)
c.1590G>C (p.Gln530His)
c.1212G>C (p.Gln404His)
c.1386G>C (p.Gln462His)
c.1365G>C (p.Gln455His)
c.1257G>C (p.Gln419His)
n.4585G>C
c.1764G>C (p.Gln588His)
c.1671G>C (p.Gln557His)
c.1626G>C (p.Gln542His)
c.1599G>C (p.Gln533His)
c.1350G>C (p.Gln450His)
c.1095G>C (p.Gln365His)
c.1632G>C (p.Gln544His)
c.1554G>C (p.Gln518His)
c.1524G>C (p.Gln508His)
c.1503G>C (p.Gln501His)
c.1479G>C (p.Gln493His)
c.1434G>C (p.Gln478His)
c.1395G>C (p.Gln465His)
c.1305G>C (p.Gln435His)
c.1260G>C (p.Gln420His)
c.1683G>C (p.Gln561His)
c.1638G>C (p.Gln546His)
c.1692G>C (p.Gln564His)
c.1389G>C (p.Gln463His)
c.1296G>C (p.Gln432His)
c.1293G>C (p.Gln431His)
c.1224G>C (p.Gln408His)
c.1188G>C (p.Gln396His)
c.1185G>C (p.Gln395His)
c.1092G>C (p.Gln364His)
c.1047G>C (p.Gln349His)
2g.127048589C>TCA428593680BIN1c.1302G>A (p.Gln434=)
c.1719G>A (p.Gln573=)
c.1431G>A (p.Gln477=)
c.1494G>A (p.Gln498=)
c.1167G>A (p.Gln389=)
c.1458G>A (p.Gln486=)
c.1590G>A (p.Gln530=)
c.1212G>A (p.Gln404=)
c.1386G>A (p.Gln462=)
c.1365G>A (p.Gln455=)
c.1257G>A (p.Gln419=)
n.4585G>A
c.1764G>A (p.Gln588=)
c.1671G>A (p.Gln557=)
c.1626G>A (p.Gln542=)
c.1599G>A (p.Gln533=)
c.1350G>A (p.Gln450=)
c.1095G>A (p.Gln365=)
c.1632G>A (p.Gln544=)
c.1554G>A (p.Gln518=)
c.1524G>A (p.Gln508=)
c.1503G>A (p.Gln501=)
c.1479G>A (p.Gln493=)
c.1434G>A (p.Gln478=)
c.1395G>A (p.Gln465=)
c.1305G>A (p.Gln435=)
c.1260G>A (p.Gln420=)
c.1683G>A (p.Gln561=)
c.1638G>A (p.Gln546=)
c.1692G>A (p.Gln564=)
c.1389G>A (p.Gln463=)
c.1296G>A (p.Gln432=)
c.1293G>A (p.Gln431=)
c.1224G>A (p.Gln408=)
c.1188G>A (p.Gln396=)
c.1185G>A (p.Gln395=)
c.1092G>A (p.Gln364=)
c.1047G>A (p.Gln349=)
2g.127048590T>ACA348373578BIN1c.1301A>T (p.Gln434Leu)
c.1718A>T (p.Gln573Leu)
c.1430A>T (p.Gln477Leu)
c.1493A>T (p.Gln498Leu)
c.1166A>T (p.Gln389Leu)
c.1457A>T (p.Gln486Leu)
c.1589A>T (p.Gln530Leu)
c.1211A>T (p.Gln404Leu)
c.1385A>T (p.Gln462Leu)
c.1364A>T (p.Gln455Leu)
c.1256A>T (p.Gln419Leu)
n.4584A>T
c.1763A>T (p.Gln588Leu)
c.1670A>T (p.Gln557Leu)
c.1625A>T (p.Gln542Leu)
c.1598A>T (p.Gln533Leu)
c.1349A>T (p.Gln450Leu)
c.1094A>T (p.Gln365Leu)
c.1631A>T (p.Gln544Leu)
c.1553A>T (p.Gln518Leu)
c.1523A>T (p.Gln508Leu)
c.1502A>T (p.Gln501Leu)
c.1478A>T (p.Gln493Leu)
c.1433A>T (p.Gln478Leu)
c.1394A>T (p.Gln465Leu)
c.1304A>T (p.Gln435Leu)
c.1259A>T (p.Gln420Leu)
c.1682A>T (p.Gln561Leu)
c.1637A>T (p.Gln546Leu)
c.1691A>T (p.Gln564Leu)
c.1388A>T (p.Gln463Leu)
c.1295A>T (p.Gln432Leu)
c.1292A>T (p.Gln431Leu)
c.1223A>T (p.Gln408Leu)
c.1187A>T (p.Gln396Leu)
c.1184A>T (p.Gln395Leu)
c.1091A>T (p.Gln364Leu)
c.1046A>T (p.Gln349Leu)
 gnomAD v4
2g.127048590T>CCA348373580BIN1c.1301A>G (p.Gln434Arg)
c.1718A>G (p.Gln573Arg)
c.1430A>G (p.Gln477Arg)
c.1493A>G (p.Gln498Arg)
c.1166A>G (p.Gln389Arg)
c.1457A>G (p.Gln486Arg)
c.1589A>G (p.Gln530Arg)
c.1211A>G (p.Gln404Arg)
c.1385A>G (p.Gln462Arg)
c.1364A>G (p.Gln455Arg)
c.1256A>G (p.Gln419Arg)
n.4584A>G
c.1763A>G (p.Gln588Arg)
c.1670A>G (p.Gln557Arg)
c.1625A>G (p.Gln542Arg)
c.1598A>G (p.Gln533Arg)
c.1349A>G (p.Gln450Arg)
c.1094A>G (p.Gln365Arg)
c.1631A>G (p.Gln544Arg)
c.1553A>G (p.Gln518Arg)
c.1523A>G (p.Gln508Arg)
c.1502A>G (p.Gln501Arg)
c.1478A>G (p.Gln493Arg)
c.1433A>G (p.Gln478Arg)
c.1394A>G (p.Gln465Arg)
c.1304A>G (p.Gln435Arg)
c.1259A>G (p.Gln420Arg)
c.1682A>G (p.Gln561Arg)
c.1637A>G (p.Gln546Arg)
c.1691A>G (p.Gln564Arg)
c.1388A>G (p.Gln463Arg)
c.1295A>G (p.Gln432Arg)
c.1292A>G (p.Gln431Arg)
c.1223A>G (p.Gln408Arg)
c.1187A>G (p.Gln396Arg)
c.1184A>G (p.Gln395Arg)
c.1091A>G (p.Gln364Arg)
c.1046A>G (p.Gln349Arg)
2g.127048590T>GCA348373582BIN1c.1301A>C (p.Gln434Pro)
c.1718A>C (p.Gln573Pro)
c.1430A>C (p.Gln477Pro)
c.1493A>C (p.Gln498Pro)
c.1166A>C (p.Gln389Pro)
c.1457A>C (p.Gln486Pro)
c.1589A>C (p.Gln530Pro)
c.1211A>C (p.Gln404Pro)
c.1385A>C (p.Gln462Pro)
c.1364A>C (p.Gln455Pro)
c.1256A>C (p.Gln419Pro)
n.4584A>C
c.1763A>C (p.Gln588Pro)
c.1670A>C (p.Gln557Pro)
c.1625A>C (p.Gln542Pro)
c.1598A>C (p.Gln533Pro)
c.1349A>C (p.Gln450Pro)
c.1094A>C (p.Gln365Pro)
c.1631A>C (p.Gln544Pro)
c.1553A>C (p.Gln518Pro)
c.1523A>C (p.Gln508Pro)
c.1502A>C (p.Gln501Pro)
c.1478A>C (p.Gln493Pro)
c.1433A>C (p.Gln478Pro)
c.1394A>C (p.Gln465Pro)
c.1304A>C (p.Gln435Pro)
c.1259A>C (p.Gln420Pro)
c.1682A>C (p.Gln561Pro)
c.1637A>C (p.Gln546Pro)
c.1691A>C (p.Gln564Pro)
c.1388A>C (p.Gln463Pro)
c.1295A>C (p.Gln432Pro)
c.1292A>C (p.Gln431Pro)
c.1223A>C (p.Gln408Pro)
c.1187A>C (p.Gln396Pro)
c.1184A>C (p.Gln395Pro)
c.1091A>C (p.Gln364Pro)
c.1046A>C (p.Gln349Pro)
2g.127048591G>ACA348373584BIN1c.1300C>T (p.Gln434Ter)
c.1717C>T (p.Gln573Ter)
c.1429C>T (p.Gln477Ter)
c.1492C>T (p.Gln498Ter)
c.1165C>T (p.Gln389Ter)
c.1456C>T (p.Gln486Ter)
c.1588C>T (p.Gln530Ter)
c.1210C>T (p.Gln404Ter)
c.1384C>T (p.Gln462Ter)
c.1363C>T (p.Gln455Ter)
c.1255C>T (p.Gln419Ter)
n.4583C>T
c.1762C>T (p.Gln588Ter)
c.1669C>T (p.Gln557Ter)
c.1624C>T (p.Gln542Ter)
c.1597C>T (p.Gln533Ter)
c.1348C>T (p.Gln450Ter)
c.1093C>T (p.Gln365Ter)
c.1630C>T (p.Gln544Ter)
c.1552C>T (p.Gln518Ter)
c.1522C>T (p.Gln508Ter)
c.1501C>T (p.Gln501Ter)
c.1477C>T (p.Gln493Ter)
c.1432C>T (p.Gln478Ter)
c.1393C>T (p.Gln465Ter)
c.1303C>T (p.Gln435Ter)
c.1258C>T (p.Gln420Ter)
c.1681C>T (p.Gln561Ter)
c.1636C>T (p.Gln546Ter)
c.1690C>T (p.Gln564Ter)
c.1387C>T (p.Gln463Ter)
c.1294C>T (p.Gln432Ter)
c.1291C>T (p.Gln431Ter)
c.1222C>T (p.Gln408Ter)
c.1186C>T (p.Gln396Ter)
c.1183C>T (p.Gln395Ter)
c.1090C>T (p.Gln364Ter)
c.1045C>T (p.Gln349Ter)
2g.127048591G>CCA348373586BIN1c.1300C>G (p.Gln434Glu)
c.1717C>G (p.Gln573Glu)
c.1429C>G (p.Gln477Glu)
c.1492C>G (p.Gln498Glu)
c.1165C>G (p.Gln389Glu)
c.1456C>G (p.Gln486Glu)
c.1588C>G (p.Gln530Glu)
c.1210C>G (p.Gln404Glu)
c.1384C>G (p.Gln462Glu)
c.1363C>G (p.Gln455Glu)
c.1255C>G (p.Gln419Glu)
n.4583C>G
c.1762C>G (p.Gln588Glu)
c.1669C>G (p.Gln557Glu)
c.1624C>G (p.Gln542Glu)
c.1597C>G (p.Gln533Glu)
c.1348C>G (p.Gln450Glu)
c.1093C>G (p.Gln365Glu)
c.1630C>G (p.Gln544Glu)
c.1552C>G (p.Gln518Glu)
c.1522C>G (p.Gln508Glu)
c.1501C>G (p.Gln501Glu)
c.1477C>G (p.Gln493Glu)
c.1432C>G (p.Gln478Glu)
c.1393C>G (p.Gln465Glu)
c.1303C>G (p.Gln435Glu)
c.1258C>G (p.Gln420Glu)
c.1681C>G (p.Gln561Glu)
c.1636C>G (p.Gln546Glu)
c.1690C>G (p.Gln564Glu)
c.1387C>G (p.Gln463Glu)
c.1294C>G (p.Gln432Glu)
c.1291C>G (p.Gln431Glu)
c.1222C>G (p.Gln408Glu)
c.1186C>G (p.Gln396Glu)
c.1183C>G (p.Gln395Glu)
c.1090C>G (p.Gln364Glu)
c.1045C>G (p.Gln349Glu)
2g.127048591G>TCA348373587BIN1c.1300C>A (p.Gln434Lys)
c.1717C>A (p.Gln573Lys)
c.1429C>A (p.Gln477Lys)
c.1492C>A (p.Gln498Lys)
c.1165C>A (p.Gln389Lys)
c.1456C>A (p.Gln486Lys)
c.1588C>A (p.Gln530Lys)
c.1210C>A (p.Gln404Lys)
c.1384C>A (p.Gln462Lys)
c.1363C>A (p.Gln455Lys)
c.1255C>A (p.Gln419Lys)
n.4583C>A
c.1762C>A (p.Gln588Lys)
c.1669C>A (p.Gln557Lys)
c.1624C>A (p.Gln542Lys)
c.1597C>A (p.Gln533Lys)
c.1348C>A (p.Gln450Lys)
c.1093C>A (p.Gln365Lys)
c.1630C>A (p.Gln544Lys)
c.1552C>A (p.Gln518Lys)
c.1522C>A (p.Gln508Lys)
c.1501C>A (p.Gln501Lys)
c.1477C>A (p.Gln493Lys)
c.1432C>A (p.Gln478Lys)
c.1393C>A (p.Gln465Lys)
c.1303C>A (p.Gln435Lys)
c.1258C>A (p.Gln420Lys)
c.1681C>A (p.Gln561Lys)
c.1636C>A (p.Gln546Lys)
c.1690C>A (p.Gln564Lys)
c.1387C>A (p.Gln463Lys)
c.1294C>A (p.Gln432Lys)
c.1291C>A (p.Gln431Lys)
c.1222C>A (p.Gln408Lys)
c.1186C>A (p.Gln396Lys)
c.1183C>A (p.Gln395Lys)
c.1090C>A (p.Gln364Lys)
c.1045C>A (p.Gln349Lys)
2g.127048592G>ACA428593684BIN1c.1299C>T (p.Asn433=)
c.1716C>T (p.Asn572=)
c.1428C>T (p.Asn476=)
c.1491C>T (p.Asn497=)
c.1164C>T (p.Asn388=)
c.1455C>T (p.Asn485=)
c.1587C>T (p.Asn529=)
c.1209C>T (p.Asn403=)
c.1383C>T (p.Asn461=)
c.1362C>T (p.Asn454=)
c.1254C>T (p.Asn418=)
n.4582C>T
c.1761C>T (p.Asn587=)
c.1668C>T (p.Asn556=)
c.1623C>T (p.Asn541=)
c.1596C>T (p.Asn532=)
c.1347C>T (p.Asn449=)
c.1092C>T (p.Asn364=)
c.1629C>T (p.Asn543=)
c.1551C>T (p.Asn517=)
c.1521C>T (p.Asn507=)
c.1500C>T (p.Asn500=)
c.1476C>T (p.Asn492=)
c.1431C>T (p.Asn477=)
c.1392C>T (p.Asn464=)
c.1302C>T (p.Asn434=)
c.1257C>T (p.Asn419=)
c.1680C>T (p.Asn560=)
c.1635C>T (p.Asn545=)
c.1689C>T (p.Asn563=)
c.1386C>T (p.Asn462=)
c.1293C>T (p.Asn431=)
c.1290C>T (p.Asn430=)
c.1221C>T (p.Asn407=)
c.1185C>T (p.Asn395=)
c.1182C>T (p.Asn394=)
c.1089C>T (p.Asn363=)
c.1044C>T (p.Asn348=)
2g.127048592G>CCA348373588BIN1c.1299C>G (p.Asn433Lys)
c.1716C>G (p.Asn572Lys)
c.1428C>G (p.Asn476Lys)
c.1491C>G (p.Asn497Lys)
c.1164C>G (p.Asn388Lys)
c.1455C>G (p.Asn485Lys)
c.1587C>G (p.Asn529Lys)
c.1209C>G (p.Asn403Lys)
c.1383C>G (p.Asn461Lys)
c.1362C>G (p.Asn454Lys)
c.1254C>G (p.Asn418Lys)
n.4582C>G
c.1761C>G (p.Asn587Lys)
c.1668C>G (p.Asn556Lys)
c.1623C>G (p.Asn541Lys)
c.1596C>G (p.Asn532Lys)
c.1347C>G (p.Asn449Lys)
c.1092C>G (p.Asn364Lys)
c.1629C>G (p.Asn543Lys)
c.1551C>G (p.Asn517Lys)
c.1521C>G (p.Asn507Lys)
c.1500C>G (p.Asn500Lys)
c.1476C>G (p.Asn492Lys)
c.1431C>G (p.Asn477Lys)
c.1392C>G (p.Asn464Lys)
c.1302C>G (p.Asn434Lys)
c.1257C>G (p.Asn419Lys)
c.1680C>G (p.Asn560Lys)
c.1635C>G (p.Asn545Lys)
c.1689C>G (p.Asn563Lys)
c.1386C>G (p.Asn462Lys)
c.1293C>G (p.Asn431Lys)
c.1290C>G (p.Asn430Lys)
c.1221C>G (p.Asn407Lys)
c.1185C>G (p.Asn395Lys)
c.1182C>G (p.Asn394Lys)
c.1089C>G (p.Asn363Lys)
c.1044C>G (p.Asn348Lys)
2g.127048592G=CA1286710730BIN1c.1299C= (p.Asn433=)
c.1716C= (p.Asn572=)
c.1428C= (p.Asn476=)
c.1491C= (p.Asn497=)
c.1164C= (p.Asn388=)
c.1455C= (p.Asn485=)
c.1587C= (p.Asn529=)
c.1209C= (p.Asn403=)
c.1383C= (p.Asn461=)
c.1362C= (p.Asn454=)
c.1254C= (p.Asn418=)
n.4582C=
c.1761C= (p.Asn587=)
c.1668C= (p.Asn556=)
c.1623C= (p.Asn541=)
c.1596C= (p.Asn532=)
c.1347C= (p.Asn449=)
c.1092C= (p.Asn364=)
c.1629C= (p.Asn543=)
c.1551C= (p.Asn517=)
c.1521C= (p.Asn507=)
c.1500C= (p.Asn500=)
c.1476C= (p.Asn492=)
c.1431C= (p.Asn477=)
c.1392C= (p.Asn464=)
c.1302C= (p.Asn434=)
c.1257C= (p.Asn419=)
c.1680C= (p.Asn560=)
c.1635C= (p.Asn545=)
c.1689C= (p.Asn563=)
c.1386C= (p.Asn462=)
c.1293C= (p.Asn431=)
c.1290C= (p.Asn430=)
c.1221C= (p.Asn407=)
c.1185C= (p.Asn395=)
c.1182C= (p.Asn394=)
c.1089C= (p.Asn363=)
c.1044C= (p.Asn348=)
2g.127048592G>TCA348373589BIN1c.1299C>A (p.Asn433Lys)
c.1716C>A (p.Asn572Lys)
c.1428C>A (p.Asn476Lys)
c.1491C>A (p.Asn497Lys)
c.1164C>A (p.Asn388Lys)
c.1455C>A (p.Asn485Lys)
c.1587C>A (p.Asn529Lys)
c.1209C>A (p.Asn403Lys)
c.1383C>A (p.Asn461Lys)
c.1362C>A (p.Asn454Lys)
c.1254C>A (p.Asn418Lys)
n.4582C>A
c.1761C>A (p.Asn587Lys)
c.1668C>A (p.Asn556Lys)
c.1623C>A (p.Asn541Lys)
c.1596C>A (p.Asn532Lys)
c.1347C>A (p.Asn449Lys)
c.1092C>A (p.Asn364Lys)
c.1629C>A (p.Asn543Lys)
c.1551C>A (p.Asn517Lys)
c.1521C>A (p.Asn507Lys)
c.1500C>A (p.Asn500Lys)
c.1476C>A (p.Asn492Lys)
c.1431C>A (p.Asn477Lys)
c.1392C>A (p.Asn464Lys)
c.1302C>A (p.Asn434Lys)
c.1257C>A (p.Asn419Lys)
c.1680C>A (p.Asn560Lys)
c.1635C>A (p.Asn545Lys)
c.1689C>A (p.Asn563Lys)
c.1386C>A (p.Asn462Lys)
c.1293C>A (p.Asn431Lys)
c.1290C>A (p.Asn430Lys)
c.1221C>A (p.Asn407Lys)
c.1185C>A (p.Asn395Lys)
c.1182C>A (p.Asn394Lys)
c.1089C>A (p.Asn363Lys)
c.1044C>A (p.Asn348Lys)
 dbSNP
2g.127048593T>ACA348373595BIN1c.1298A>T (p.Asn433Ile)
c.1715A>T (p.Asn572Ile)
c.1427A>T (p.Asn476Ile)
c.1490A>T (p.Asn497Ile)
c.1163A>T (p.Asn388Ile)
c.1454A>T (p.Asn485Ile)
c.1586A>T (p.Asn529Ile)
c.1208A>T (p.Asn403Ile)
c.1382A>T (p.Asn461Ile)
c.1361A>T (p.Asn454Ile)
c.1253A>T (p.Asn418Ile)
n.4581A>T
c.1760A>T (p.Asn587Ile)
c.1667A>T (p.Asn556Ile)
c.1622A>T (p.Asn541Ile)
c.1595A>T (p.Asn532Ile)
c.1346A>T (p.Asn449Ile)
c.1091A>T (p.Asn364Ile)
c.1628A>T (p.Asn543Ile)
c.1550A>T (p.Asn517Ile)
c.1520A>T (p.Asn507Ile)
c.1499A>T (p.Asn500Ile)
c.1475A>T (p.Asn492Ile)
c.1430A>T (p.Asn477Ile)
c.1391A>T (p.Asn464Ile)
c.1301A>T (p.Asn434Ile)
c.1256A>T (p.Asn419Ile)
c.1679A>T (p.Asn560Ile)
c.1634A>T (p.Asn545Ile)
c.1688A>T (p.Asn563Ile)
c.1385A>T (p.Asn462Ile)
c.1292A>T (p.Asn431Ile)
c.1289A>T (p.Asn430Ile)
c.1220A>T (p.Asn407Ile)
c.1184A>T (p.Asn395Ile)
c.1181A>T (p.Asn394Ile)
c.1088A>T (p.Asn363Ile)
c.1043A>T (p.Asn348Ile)
2g.127048593T>CCA348373593BIN1c.1298A>G (p.Asn433Ser)
c.1715A>G (p.Asn572Ser)
c.1427A>G (p.Asn476Ser)
c.1490A>G (p.Asn497Ser)
c.1163A>G (p.Asn388Ser)
c.1454A>G (p.Asn485Ser)
c.1586A>G (p.Asn529Ser)
c.1208A>G (p.Asn403Ser)
c.1382A>G (p.Asn461Ser)
c.1361A>G (p.Asn454Ser)
c.1253A>G (p.Asn418Ser)
n.4581A>G
c.1760A>G (p.Asn587Ser)
c.1667A>G (p.Asn556Ser)
c.1622A>G (p.Asn541Ser)
c.1595A>G (p.Asn532Ser)
c.1346A>G (p.Asn449Ser)
c.1091A>G (p.Asn364Ser)
c.1628A>G (p.Asn543Ser)
c.1550A>G (p.Asn517Ser)
c.1520A>G (p.Asn507Ser)
c.1499A>G (p.Asn500Ser)
c.1475A>G (p.Asn492Ser)
c.1430A>G (p.Asn477Ser)
c.1391A>G (p.Asn464Ser)
c.1301A>G (p.Asn434Ser)
c.1256A>G (p.Asn419Ser)
c.1679A>G (p.Asn560Ser)
c.1634A>G (p.Asn545Ser)
c.1688A>G (p.Asn563Ser)
c.1385A>G (p.Asn462Ser)
c.1292A>G (p.Asn431Ser)
c.1289A>G (p.Asn430Ser)
c.1220A>G (p.Asn407Ser)
c.1184A>G (p.Asn395Ser)
c.1181A>G (p.Asn394Ser)
c.1088A>G (p.Asn363Ser)
c.1043A>G (p.Asn348Ser)
2g.127048593T>GCA348373591BIN1c.1298A>C (p.Asn433Thr)
c.1715A>C (p.Asn572Thr)
c.1427A>C (p.Asn476Thr)
c.1490A>C (p.Asn497Thr)
c.1163A>C (p.Asn388Thr)
c.1454A>C (p.Asn485Thr)
c.1586A>C (p.Asn529Thr)
c.1208A>C (p.Asn403Thr)
c.1382A>C (p.Asn461Thr)
c.1361A>C (p.Asn454Thr)
c.1253A>C (p.Asn418Thr)
n.4581A>C
c.1760A>C (p.Asn587Thr)
c.1667A>C (p.Asn556Thr)
c.1622A>C (p.Asn541Thr)
c.1595A>C (p.Asn532Thr)
c.1346A>C (p.Asn449Thr)
c.1091A>C (p.Asn364Thr)
c.1628A>C (p.Asn543Thr)
c.1550A>C (p.Asn517Thr)
c.1520A>C (p.Asn507Thr)
c.1499A>C (p.Asn500Thr)
c.1475A>C (p.Asn492Thr)
c.1430A>C (p.Asn477Thr)
c.1391A>C (p.Asn464Thr)
c.1301A>C (p.Asn434Thr)
c.1256A>C (p.Asn419Thr)
c.1679A>C (p.Asn560Thr)
c.1634A>C (p.Asn545Thr)
c.1688A>C (p.Asn563Thr)
c.1385A>C (p.Asn462Thr)
c.1292A>C (p.Asn431Thr)
c.1289A>C (p.Asn430Thr)
c.1220A>C (p.Asn407Thr)
c.1184A>C (p.Asn395Thr)
c.1181A>C (p.Asn394Thr)
c.1088A>C (p.Asn363Thr)
c.1043A>C (p.Asn348Thr)
2g.127048594T>ACA348373600BIN1c.1297A>T (p.Asn433Tyr)
c.1714A>T (p.Asn572Tyr)
c.1426A>T (p.Asn476Tyr)
c.1489A>T (p.Asn497Tyr)
c.1162A>T (p.Asn388Tyr)
c.1453A>T (p.Asn485Tyr)
c.1585A>T (p.Asn529Tyr)
c.1207A>T (p.Asn403Tyr)
c.1381A>T (p.Asn461Tyr)
c.1360A>T (p.Asn454Tyr)
c.1252A>T (p.Asn418Tyr)
n.4580A>T
c.1759A>T (p.Asn587Tyr)
c.1666A>T (p.Asn556Tyr)
c.1621A>T (p.Asn541Tyr)
c.1594A>T (p.Asn532Tyr)
c.1345A>T (p.Asn449Tyr)
c.1090A>T (p.Asn364Tyr)
c.1627A>T (p.Asn543Tyr)
c.1549A>T (p.Asn517Tyr)
c.1519A>T (p.Asn507Tyr)
c.1498A>T (p.Asn500Tyr)
c.1474A>T (p.Asn492Tyr)
c.1429A>T (p.Asn477Tyr)
c.1390A>T (p.Asn464Tyr)
c.1300A>T (p.Asn434Tyr)
c.1255A>T (p.Asn419Tyr)
c.1678A>T (p.Asn560Tyr)
c.1633A>T (p.Asn545Tyr)
c.1687A>T (p.Asn563Tyr)
c.1384A>T (p.Asn462Tyr)
c.1291A>T (p.Asn431Tyr)
c.1288A>T (p.Asn430Tyr)
c.1219A>T (p.Asn407Tyr)
c.1183A>T (p.Asn395Tyr)
c.1180A>T (p.Asn394Tyr)
c.1087A>T (p.Asn363Tyr)
c.1042A>T (p.Asn348Tyr)
2g.127048594T>CCA348373602BIN1c.1297A>G (p.Asn433Asp)
c.1714A>G (p.Asn572Asp)
c.1426A>G (p.Asn476Asp)
c.1489A>G (p.Asn497Asp)
c.1162A>G (p.Asn388Asp)
c.1453A>G (p.Asn485Asp)
c.1585A>G (p.Asn529Asp)
c.1207A>G (p.Asn403Asp)
c.1381A>G (p.Asn461Asp)
c.1360A>G (p.Asn454Asp)
c.1252A>G (p.Asn418Asp)
n.4580A>G
c.1759A>G (p.Asn587Asp)
c.1666A>G (p.Asn556Asp)
c.1621A>G (p.Asn541Asp)
c.1594A>G (p.Asn532Asp)
c.1345A>G (p.Asn449Asp)
c.1090A>G (p.Asn364Asp)
c.1627A>G (p.Asn543Asp)
c.1549A>G (p.Asn517Asp)
c.1519A>G (p.Asn507Asp)
c.1498A>G (p.Asn500Asp)
c.1474A>G (p.Asn492Asp)
c.1429A>G (p.Asn477Asp)
c.1390A>G (p.Asn464Asp)
c.1300A>G (p.Asn434Asp)
c.1255A>G (p.Asn419Asp)
c.1678A>G (p.Asn560Asp)
c.1633A>G (p.Asn545Asp)
c.1687A>G (p.Asn563Asp)
c.1384A>G (p.Asn462Asp)
c.1291A>G (p.Asn431Asp)
c.1288A>G (p.Asn430Asp)
c.1219A>G (p.Asn407Asp)
c.1183A>G (p.Asn395Asp)
c.1180A>G (p.Asn394Asp)
c.1087A>G (p.Asn363Asp)
c.1042A>G (p.Asn348Asp)
2g.127048594T>GCA348373603BIN1c.1297A>C (p.Asn433His)
c.1714A>C (p.Asn572His)
c.1426A>C (p.Asn476His)
c.1489A>C (p.Asn497His)
c.1162A>C (p.Asn388His)
c.1453A>C (p.Asn485His)
c.1585A>C (p.Asn529His)
c.1207A>C (p.Asn403His)
c.1381A>C (p.Asn461His)
c.1360A>C (p.Asn454His)
c.1252A>C (p.Asn418His)
n.4580A>C
c.1759A>C (p.Asn587His)
c.1666A>C (p.Asn556His)
c.1621A>C (p.Asn541His)
c.1594A>C (p.Asn532His)
c.1345A>C (p.Asn449His)
c.1090A>C (p.Asn364His)
c.1627A>C (p.Asn543His)
c.1549A>C (p.Asn517His)
c.1519A>C (p.Asn507His)
c.1498A>C (p.Asn500His)
c.1474A>C (p.Asn492His)
c.1429A>C (p.Asn477His)
c.1390A>C (p.Asn464His)
c.1300A>C (p.Asn434His)
c.1255A>C (p.Asn419His)
c.1678A>C (p.Asn560His)
c.1633A>C (p.Asn545His)
c.1687A>C (p.Asn563His)
c.1384A>C (p.Asn462His)
c.1291A>C (p.Asn431His)
c.1288A>C (p.Asn430His)
c.1219A>C (p.Asn407His)
c.1183A>C (p.Asn395His)
c.1180A>C (p.Asn394His)
c.1087A>C (p.Asn363His)
c.1042A>C (p.Asn348His)
2g.127048595C>ACA348373605BIN1c.1296G>T (p.Trp432Cys)
c.1713G>T (p.Trp571Cys)
c.1425G>T (p.Trp475Cys)
c.1488G>T (p.Trp496Cys)
c.1161G>T (p.Trp387Cys)
c.1452G>T (p.Trp484Cys)
c.1584G>T (p.Trp528Cys)
c.1206G>T (p.Trp402Cys)
c.1380G>T (p.Trp460Cys)
c.1359G>T (p.Trp453Cys)
c.1251G>T (p.Trp417Cys)
n.4579G>T
c.1758G>T (p.Trp586Cys)
c.1665G>T (p.Trp555Cys)
c.1620G>T (p.Trp540Cys)
c.1593G>T (p.Trp531Cys)
c.1344G>T (p.Trp448Cys)
c.1089G>T (p.Trp363Cys)
c.1626G>T (p.Trp542Cys)
c.1548G>T (p.Trp516Cys)
c.1518G>T (p.Trp506Cys)
c.1497G>T (p.Trp499Cys)
c.1473G>T (p.Trp491Cys)
c.1428G>T (p.Trp476Cys)
c.1389G>T (p.Trp463Cys)
c.1299G>T (p.Trp433Cys)
c.1254G>T (p.Trp418Cys)
c.1677G>T (p.Trp559Cys)
c.1632G>T (p.Trp544Cys)
c.1686G>T (p.Trp562Cys)
c.1383G>T (p.Trp461Cys)
c.1290G>T (p.Trp430Cys)
c.1287G>T (p.Trp429Cys)
c.1218G>T (p.Trp406Cys)
c.1182G>T (p.Trp394Cys)
c.1179G>T (p.Trp393Cys)
c.1086G>T (p.Trp362Cys)
c.1041G>T (p.Trp347Cys)
2g.127048595C=CA1286710731BIN1c.1296G= (p.Trp432=)
c.1713G= (p.Trp571=)
c.1425G= (p.Trp475=)
c.1488G= (p.Trp496=)
c.1161G= (p.Trp387=)
c.1452G= (p.Trp484=)
c.1584G= (p.Trp528=)
c.1206G= (p.Trp402=)
c.1380G= (p.Trp460=)
c.1359G= (p.Trp453=)
c.1251G= (p.Trp417=)
n.4579G=
c.1758G= (p.Trp586=)
c.1665G= (p.Trp555=)
c.1620G= (p.Trp540=)
c.1593G= (p.Trp531=)
c.1344G= (p.Trp448=)
c.1089G= (p.Trp363=)
c.1626G= (p.Trp542=)
c.1548G= (p.Trp516=)
c.1518G= (p.Trp506=)
c.1497G= (p.Trp499=)
c.1473G= (p.Trp491=)
c.1428G= (p.Trp476=)
c.1389G= (p.Trp463=)
c.1299G= (p.Trp433=)
c.1254G= (p.Trp418=)
c.1677G= (p.Trp559=)
c.1632G= (p.Trp544=)
c.1686G= (p.Trp562=)
c.1383G= (p.Trp461=)
c.1290G= (p.Trp430=)
c.1287G= (p.Trp429=)
c.1218G= (p.Trp406=)
c.1182G= (p.Trp394=)
c.1179G= (p.Trp393=)
c.1086G= (p.Trp362=)
c.1041G= (p.Trp347=)
2g.127048595C>GCA348373606BIN1c.1296G>C (p.Trp432Cys)
c.1713G>C (p.Trp571Cys)
c.1425G>C (p.Trp475Cys)
c.1488G>C (p.Trp496Cys)
c.1161G>C (p.Trp387Cys)
c.1452G>C (p.Trp484Cys)
c.1584G>C (p.Trp528Cys)
c.1206G>C (p.Trp402Cys)
c.1380G>C (p.Trp460Cys)
c.1359G>C (p.Trp453Cys)
c.1251G>C (p.Trp417Cys)
n.4579G>C
c.1758G>C (p.Trp586Cys)
c.1665G>C (p.Trp555Cys)
c.1620G>C (p.Trp540Cys)
c.1593G>C (p.Trp531Cys)
c.1344G>C (p.Trp448Cys)
c.1089G>C (p.Trp363Cys)
c.1626G>C (p.Trp542Cys)
c.1548G>C (p.Trp516Cys)
c.1518G>C (p.Trp506Cys)
c.1497G>C (p.Trp499Cys)
c.1473G>C (p.Trp491Cys)
c.1428G>C (p.Trp476Cys)
c.1389G>C (p.Trp463Cys)
c.1299G>C (p.Trp433Cys)
c.1254G>C (p.Trp418Cys)
c.1677G>C (p.Trp559Cys)
c.1632G>C (p.Trp544Cys)
c.1686G>C (p.Trp562Cys)
c.1383G>C (p.Trp461Cys)
c.1290G>C (p.Trp430Cys)
c.1287G>C (p.Trp429Cys)
c.1218G>C (p.Trp406Cys)
c.1182G>C (p.Trp394Cys)
c.1179G>C (p.Trp393Cys)
c.1086G>C (p.Trp362Cys)
c.1041G>C (p.Trp347Cys)
2g.127048595C>TCA171397BIN1c.1296G>A (p.Trp432Ter)
c.1713G>A (p.Trp571Ter)
c.1425G>A (p.Trp475Ter)
c.1488G>A (p.Trp496Ter)
c.1161G>A (p.Trp387Ter)
c.1452G>A (p.Trp484Ter)
c.1584G>A (p.Trp528Ter)
c.1206G>A (p.Trp402Ter)
c.1380G>A (p.Trp460Ter)
c.1359G>A (p.Trp453Ter)
c.1251G>A (p.Trp417Ter)
n.4579G>A
c.1758G>A (p.Trp586Ter)
c.1665G>A (p.Trp555Ter)
c.1620G>A (p.Trp540Ter)
c.1593G>A (p.Trp531Ter)
c.1344G>A (p.Trp448Ter)
c.1089G>A (p.Trp363Ter)
c.1626G>A (p.Trp542Ter)
c.1548G>A (p.Trp516Ter)
c.1518G>A (p.Trp506Ter)
c.1497G>A (p.Trp499Ter)
c.1473G>A (p.Trp491Ter)
c.1428G>A (p.Trp476Ter)
c.1389G>A (p.Trp463Ter)
c.1299G>A (p.Trp433Ter)
c.1254G>A (p.Trp418Ter)
c.1677G>A (p.Trp559Ter)
c.1632G>A (p.Trp544Ter)
c.1686G>A (p.Trp562Ter)
c.1383G>A (p.Trp461Ter)
c.1290G>A (p.Trp430Ter)
c.1287G>A (p.Trp429Ter)
c.1218G>A (p.Trp406Ter)
c.1182G>A (p.Trp394Ter)
c.1179G>A (p.Trp393Ter)
c.1086G>A (p.Trp362Ter)
c.1041G>A (p.Trp347Ter)
 ClinVar dbSNP
2g.127048596C>ACA348373612BIN1c.1295G>T (p.Trp432Leu)
c.1712G>T (p.Trp571Leu)
c.1424G>T (p.Trp475Leu)
c.1487G>T (p.Trp496Leu)
c.1160G>T (p.Trp387Leu)
c.1451G>T (p.Trp484Leu)
c.1583G>T (p.Trp528Leu)
c.1205G>T (p.Trp402Leu)
c.1379G>T (p.Trp460Leu)
c.1358G>T (p.Trp453Leu)
c.1250G>T (p.Trp417Leu)
n.4578G>T
c.1757G>T (p.Trp586Leu)
c.1664G>T (p.Trp555Leu)
c.1619G>T (p.Trp540Leu)
c.1592G>T (p.Trp531Leu)
c.1343G>T (p.Trp448Leu)
c.1088G>T (p.Trp363Leu)
c.1625G>T (p.Trp542Leu)
c.1547G>T (p.Trp516Leu)
c.1517G>T (p.Trp506Leu)
c.1496G>T (p.Trp499Leu)
c.1472G>T (p.Trp491Leu)
c.1427G>T (p.Trp476Leu)
c.1388G>T (p.Trp463Leu)
c.1298G>T (p.Trp433Leu)
c.1253G>T (p.Trp418Leu)
c.1676G>T (p.Trp559Leu)
c.1631G>T (p.Trp544Leu)
c.1685G>T (p.Trp562Leu)
c.1382G>T (p.Trp461Leu)
c.1289G>T (p.Trp430Leu)
c.1286G>T (p.Trp429Leu)
c.1217G>T (p.Trp406Leu)
c.1181G>T (p.Trp394Leu)
c.1178G>T (p.Trp393Leu)
c.1085G>T (p.Trp362Leu)
c.1040G>T (p.Trp347Leu)
2g.127048596C>GCA348373610BIN1c.1295G>C (p.Trp432Ser)
c.1712G>C (p.Trp571Ser)
c.1424G>C (p.Trp475Ser)
c.1487G>C (p.Trp496Ser)
c.1160G>C (p.Trp387Ser)
c.1451G>C (p.Trp484Ser)
c.1583G>C (p.Trp528Ser)
c.1205G>C (p.Trp402Ser)
c.1379G>C (p.Trp460Ser)
c.1358G>C (p.Trp453Ser)
c.1250G>C (p.Trp417Ser)
n.4578G>C
c.1757G>C (p.Trp586Ser)
c.1664G>C (p.Trp555Ser)
c.1619G>C (p.Trp540Ser)
c.1592G>C (p.Trp531Ser)
c.1343G>C (p.Trp448Ser)
c.1088G>C (p.Trp363Ser)
c.1625G>C (p.Trp542Ser)
c.1547G>C (p.Trp516Ser)
c.1517G>C (p.Trp506Ser)
c.1496G>C (p.Trp499Ser)
c.1472G>C (p.Trp491Ser)
c.1427G>C (p.Trp476Ser)
c.1388G>C (p.Trp463Ser)
c.1298G>C (p.Trp433Ser)
c.1253G>C (p.Trp418Ser)
c.1676G>C (p.Trp559Ser)
c.1631G>C (p.Trp544Ser)
c.1685G>C (p.Trp562Ser)
c.1382G>C (p.Trp461Ser)
c.1289G>C (p.Trp430Ser)
c.1286G>C (p.Trp429Ser)
c.1217G>C (p.Trp406Ser)
c.1181G>C (p.Trp394Ser)
c.1178G>C (p.Trp393Ser)
c.1085G>C (p.Trp362Ser)
c.1040G>C (p.Trp347Ser)
2g.127048596C>TCA348373609BIN1c.1295G>A (p.Trp432Ter)
c.1712G>A (p.Trp571Ter)
c.1424G>A (p.Trp475Ter)
c.1487G>A (p.Trp496Ter)
c.1160G>A (p.Trp387Ter)
c.1451G>A (p.Trp484Ter)
c.1583G>A (p.Trp528Ter)
c.1205G>A (p.Trp402Ter)
c.1379G>A (p.Trp460Ter)
c.1358G>A (p.Trp453Ter)
c.1250G>A (p.Trp417Ter)
n.4578G>A
c.1757G>A (p.Trp586Ter)
c.1664G>A (p.Trp555Ter)
c.1619G>A (p.Trp540Ter)
c.1592G>A (p.Trp531Ter)
c.1343G>A (p.Trp448Ter)
c.1088G>A (p.Trp363Ter)
c.1625G>A (p.Trp542Ter)
c.1547G>A (p.Trp516Ter)
c.1517G>A (p.Trp506Ter)
c.1496G>A (p.Trp499Ter)
c.1472G>A (p.Trp491Ter)
c.1427G>A (p.Trp476Ter)
c.1388G>A (p.Trp463Ter)
c.1298G>A (p.Trp433Ter)
c.1253G>A (p.Trp418Ter)
c.1676G>A (p.Trp559Ter)
c.1631G>A (p.Trp544Ter)
c.1685G>A (p.Trp562Ter)
c.1382G>A (p.Trp461Ter)
c.1289G>A (p.Trp430Ter)
c.1286G>A (p.Trp429Ter)
c.1217G>A (p.Trp406Ter)
c.1181G>A (p.Trp394Ter)
c.1178G>A (p.Trp393Ter)
c.1085G>A (p.Trp362Ter)
c.1040G>A (p.Trp347Ter)
 ClinVar gnomAD v4
2g.127048597A>CCA348373617BIN1c.1294T>G (p.Trp432Gly)
c.1711T>G (p.Trp571Gly)
c.1423T>G (p.Trp475Gly)
c.1486T>G (p.Trp496Gly)
c.1159T>G (p.Trp387Gly)
c.1450T>G (p.Trp484Gly)
c.1582T>G (p.Trp528Gly)
c.1204T>G (p.Trp402Gly)
c.1378T>G (p.Trp460Gly)
c.1357T>G (p.Trp453Gly)
c.1249T>G (p.Trp417Gly)
n.4577T>G
c.1756T>G (p.Trp586Gly)
c.1663T>G (p.Trp555Gly)
c.1618T>G (p.Trp540Gly)
c.1591T>G (p.Trp531Gly)
c.1342T>G (p.Trp448Gly)
c.1087T>G (p.Trp363Gly)
c.1624T>G (p.Trp542Gly)
c.1546T>G (p.Trp516Gly)
c.1516T>G (p.Trp506Gly)
c.1495T>G (p.Trp499Gly)
c.1471T>G (p.Trp491Gly)
c.1426T>G (p.Trp476Gly)
c.1387T>G (p.Trp463Gly)
c.1297T>G (p.Trp433Gly)
c.1252T>G (p.Trp418Gly)
c.1675T>G (p.Trp559Gly)
c.1630T>G (p.Trp544Gly)
c.1684T>G (p.Trp562Gly)
c.1381T>G (p.Trp461Gly)
c.1288T>G (p.Trp430Gly)
c.1285T>G (p.Trp429Gly)
c.1216T>G (p.Trp406Gly)
c.1180T>G (p.Trp394Gly)
c.1177T>G (p.Trp393Gly)
c.1084T>G (p.Trp362Gly)
c.1039T>G (p.Trp347Gly)
2g.127048597A>GCA348373618BIN1c.1294T>C (p.Trp432Arg)
c.1711T>C (p.Trp571Arg)
c.1423T>C (p.Trp475Arg)
c.1486T>C (p.Trp496Arg)
c.1159T>C (p.Trp387Arg)
c.1450T>C (p.Trp484Arg)
c.1582T>C (p.Trp528Arg)
c.1204T>C (p.Trp402Arg)
c.1378T>C (p.Trp460Arg)
c.1357T>C (p.Trp453Arg)
c.1249T>C (p.Trp417Arg)
n.4577T>C
c.1756T>C (p.Trp586Arg)
c.1663T>C (p.Trp555Arg)
c.1618T>C (p.Trp540Arg)
c.1591T>C (p.Trp531Arg)
c.1342T>C (p.Trp448Arg)
c.1087T>C (p.Trp363Arg)
c.1624T>C (p.Trp542Arg)
c.1546T>C (p.Trp516Arg)
c.1516T>C (p.Trp506Arg)
c.1495T>C (p.Trp499Arg)
c.1471T>C (p.Trp491Arg)
c.1426T>C (p.Trp476Arg)
c.1387T>C (p.Trp463Arg)
c.1297T>C (p.Trp433Arg)
c.1252T>C (p.Trp418Arg)
c.1675T>C (p.Trp559Arg)
c.1630T>C (p.Trp544Arg)
c.1684T>C (p.Trp562Arg)
c.1381T>C (p.Trp461Arg)
c.1288T>C (p.Trp430Arg)
c.1285T>C (p.Trp429Arg)
c.1216T>C (p.Trp406Arg)
c.1180T>C (p.Trp394Arg)
c.1177T>C (p.Trp393Arg)
c.1084T>C (p.Trp362Arg)
c.1039T>C (p.Trp347Arg)
 gnomAD v4
2g.127048597A>TCA348373619BIN1c.1294T>A (p.Trp432Arg)
c.1711T>A (p.Trp571Arg)
c.1423T>A (p.Trp475Arg)
c.1486T>A (p.Trp496Arg)
c.1159T>A (p.Trp387Arg)
c.1450T>A (p.Trp484Arg)
c.1582T>A (p.Trp528Arg)
c.1204T>A (p.Trp402Arg)
c.1378T>A (p.Trp460Arg)
c.1357T>A (p.Trp453Arg)
c.1249T>A (p.Trp417Arg)
n.4577T>A
c.1756T>A (p.Trp586Arg)
c.1663T>A (p.Trp555Arg)
c.1618T>A (p.Trp540Arg)
c.1591T>A (p.Trp531Arg)
c.1342T>A (p.Trp448Arg)
c.1087T>A (p.Trp363Arg)
c.1624T>A (p.Trp542Arg)
c.1546T>A (p.Trp516Arg)
c.1516T>A (p.Trp506Arg)
c.1495T>A (p.Trp499Arg)
c.1471T>A (p.Trp491Arg)
c.1426T>A (p.Trp476Arg)
c.1387T>A (p.Trp463Arg)
c.1297T>A (p.Trp433Arg)
c.1252T>A (p.Trp418Arg)
c.1675T>A (p.Trp559Arg)
c.1630T>A (p.Trp544Arg)
c.1684T>A (p.Trp562Arg)
c.1381T>A (p.Trp461Arg)
c.1288T>A (p.Trp430Arg)
c.1285T>A (p.Trp429Arg)
c.1216T>A (p.Trp406Arg)
c.1180T>A (p.Trp394Arg)
c.1177T>A (p.Trp393Arg)
c.1084T>A (p.Trp362Arg)
c.1039T>A (p.Trp347Arg)
2g.127048598G>ACA171395BIN1c.1293C>T (p.Asp431=)
c.1710C>T (p.Asp570=)
c.1422C>T (p.Asp474=)
c.1485C>T (p.Asp495=)
c.1158C>T (p.Asp386=)
c.1449C>T (p.Asp483=)
c.1581C>T (p.Asp527=)
c.1203C>T (p.Asp401=)
c.1377C>T (p.Asp459=)
c.1356C>T (p.Asp452=)
c.1248C>T (p.Asp416=)
n.4576C>T
c.1755C>T (p.Asp585=)
c.1662C>T (p.Asp554=)
c.1617C>T (p.Asp539=)
c.1590C>T (p.Asp530=)
c.1341C>T (p.Asp447=)
c.1086C>T (p.Asp362=)
c.1623C>T (p.Asp541=)
c.1545C>T (p.Asp515=)
c.1515C>T (p.Asp505=)
c.1494C>T (p.Asp498=)
c.1470C>T (p.Asp490=)
c.1425C>T (p.Asp475=)
c.1386C>T (p.Asp462=)
c.1296C>T (p.Asp432=)
c.1251C>T (p.Asp417=)
c.1674C>T (p.Asp558=)
c.1629C>T (p.Asp543=)
c.1683C>T (p.Asp561=)
c.1380C>T (p.Asp460=)
c.1287C>T (p.Asp429=)
c.1284C>T (p.Asp428=)
c.1215C>T (p.Asp405=)
c.1179C>T (p.Asp393=)
c.1176C>T (p.Asp392=)
c.1083C>T (p.Asp361=)
c.1038C>T (p.Asp346=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127048598G>CCA1856933BIN1c.1293C>G (p.Asp431Glu)
c.1710C>G (p.Asp570Glu)
c.1422C>G (p.Asp474Glu)
c.1485C>G (p.Asp495Glu)
c.1158C>G (p.Asp386Glu)
c.1449C>G (p.Asp483Glu)
c.1581C>G (p.Asp527Glu)
c.1203C>G (p.Asp401Glu)
c.1377C>G (p.Asp459Glu)
c.1356C>G (p.Asp452Glu)
c.1248C>G (p.Asp416Glu)
n.4576C>G
c.1755C>G (p.Asp585Glu)
c.1662C>G (p.Asp554Glu)
c.1617C>G (p.Asp539Glu)
c.1590C>G (p.Asp530Glu)
c.1341C>G (p.Asp447Glu)
c.1086C>G (p.Asp362Glu)
c.1623C>G (p.Asp541Glu)
c.1545C>G (p.Asp515Glu)
c.1515C>G (p.Asp505Glu)
c.1494C>G (p.Asp498Glu)
c.1470C>G (p.Asp490Glu)
c.1425C>G (p.Asp475Glu)
c.1386C>G (p.Asp462Glu)
c.1296C>G (p.Asp432Glu)
c.1251C>G (p.Asp417Glu)
c.1674C>G (p.Asp558Glu)
c.1629C>G (p.Asp543Glu)
c.1683C>G (p.Asp561Glu)
c.1380C>G (p.Asp460Glu)
c.1287C>G (p.Asp429Glu)
c.1284C>G (p.Asp428Glu)
c.1215C>G (p.Asp405Glu)
c.1179C>G (p.Asp393Glu)
c.1176C>G (p.Asp392Glu)
c.1083C>G (p.Asp361Glu)
c.1038C>G (p.Asp346Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127048598G=CA1286710732BIN1c.1293C= (p.Asp431=)
c.1710C= (p.Asp570=)
c.1422C= (p.Asp474=)
c.1485C= (p.Asp495=)
c.1158C= (p.Asp386=)
c.1449C= (p.Asp483=)
c.1581C= (p.Asp527=)
c.1203C= (p.Asp401=)
c.1377C= (p.Asp459=)
c.1356C= (p.Asp452=)
c.1248C= (p.Asp416=)
n.4576C=
c.1755C= (p.Asp585=)
c.1662C= (p.Asp554=)
c.1617C= (p.Asp539=)
c.1590C= (p.Asp530=)
c.1341C= (p.Asp447=)
c.1086C= (p.Asp362=)
c.1623C= (p.Asp541=)
c.1545C= (p.Asp515=)
c.1515C= (p.Asp505=)
c.1494C= (p.Asp498=)
c.1470C= (p.Asp490=)
c.1425C= (p.Asp475=)
c.1386C= (p.Asp462=)
c.1296C= (p.Asp432=)
c.1251C= (p.Asp417=)
c.1674C= (p.Asp558=)
c.1629C= (p.Asp543=)
c.1683C= (p.Asp561=)
c.1380C= (p.Asp460=)
c.1287C= (p.Asp429=)
c.1284C= (p.Asp428=)
c.1215C= (p.Asp405=)
c.1179C= (p.Asp393=)
c.1176C= (p.Asp392=)
c.1083C= (p.Asp361=)
c.1038C= (p.Asp346=)
2g.127048598G>TCA348373622BIN1c.1293C>A (p.Asp431Glu)
c.1710C>A (p.Asp570Glu)
c.1422C>A (p.Asp474Glu)
c.1485C>A (p.Asp495Glu)
c.1158C>A (p.Asp386Glu)
c.1449C>A (p.Asp483Glu)
c.1581C>A (p.Asp527Glu)
c.1203C>A (p.Asp401Glu)
c.1377C>A (p.Asp459Glu)
c.1356C>A (p.Asp452Glu)
c.1248C>A (p.Asp416Glu)
n.4576C>A
c.1755C>A (p.Asp585Glu)
c.1662C>A (p.Asp554Glu)
c.1617C>A (p.Asp539Glu)
c.1590C>A (p.Asp530Glu)
c.1341C>A (p.Asp447Glu)
c.1086C>A (p.Asp362Glu)
c.1623C>A (p.Asp541Glu)
c.1545C>A (p.Asp515Glu)
c.1515C>A (p.Asp505Glu)
c.1494C>A (p.Asp498Glu)
c.1470C>A (p.Asp490Glu)
c.1425C>A (p.Asp475Glu)
c.1386C>A (p.Asp462Glu)
c.1296C>A (p.Asp432Glu)
c.1251C>A (p.Asp417Glu)
c.1674C>A (p.Asp558Glu)
c.1629C>A (p.Asp543Glu)
c.1683C>A (p.Asp561Glu)
c.1380C>A (p.Asp460Glu)
c.1287C>A (p.Asp429Glu)
c.1284C>A (p.Asp428Glu)
c.1215C>A (p.Asp405Glu)
c.1179C>A (p.Asp393Glu)
c.1176C>A (p.Asp392Glu)
c.1083C>A (p.Asp361Glu)
c.1038C>A (p.Asp346Glu)
2g.127048599T>ACA348373627BIN1c.1292A>T (p.Asp431Val)
c.1709A>T (p.Asp570Val)
c.1421A>T (p.Asp474Val)
c.1484A>T (p.Asp495Val)
c.1157A>T (p.Asp386Val)
c.1448A>T (p.Asp483Val)
c.1580A>T (p.Asp527Val)
c.1202A>T (p.Asp401Val)
c.1376A>T (p.Asp459Val)
c.1355A>T (p.Asp452Val)
c.1247A>T (p.Asp416Val)
n.4575A>T
c.1754A>T (p.Asp585Val)
c.1661A>T (p.Asp554Val)
c.1616A>T (p.Asp539Val)
c.1589A>T (p.Asp530Val)
c.1340A>T (p.Asp447Val)
c.1085A>T (p.Asp362Val)
c.1622A>T (p.Asp541Val)
c.1544A>T (p.Asp515Val)
c.1514A>T (p.Asp505Val)
c.1493A>T (p.Asp498Val)
c.1469A>T (p.Asp490Val)
c.1424A>T (p.Asp475Val)
c.1385A>T (p.Asp462Val)
c.1295A>T (p.Asp432Val)
c.1250A>T (p.Asp417Val)
c.1673A>T (p.Asp558Val)
c.1628A>T (p.Asp543Val)
c.1682A>T (p.Asp561Val)
c.1379A>T (p.Asp460Val)
c.1286A>T (p.Asp429Val)
c.1283A>T (p.Asp428Val)
c.1214A>T (p.Asp405Val)
c.1178A>T (p.Asp393Val)
c.1175A>T (p.Asp392Val)
c.1082A>T (p.Asp361Val)
c.1037A>T (p.Asp346Val)
2g.127048599T>CCA348373624BIN1c.1292A>G (p.Asp431Gly)
c.1709A>G (p.Asp570Gly)
c.1421A>G (p.Asp474Gly)
c.1484A>G (p.Asp495Gly)
c.1157A>G (p.Asp386Gly)
c.1448A>G (p.Asp483Gly)
c.1580A>G (p.Asp527Gly)
c.1202A>G (p.Asp401Gly)
c.1376A>G (p.Asp459Gly)
c.1355A>G (p.Asp452Gly)
c.1247A>G (p.Asp416Gly)
n.4575A>G
c.1754A>G (p.Asp585Gly)
c.1661A>G (p.Asp554Gly)
c.1616A>G (p.Asp539Gly)
c.1589A>G (p.Asp530Gly)
c.1340A>G (p.Asp447Gly)
c.1085A>G (p.Asp362Gly)
c.1622A>G (p.Asp541Gly)
c.1544A>G (p.Asp515Gly)
c.1514A>G (p.Asp505Gly)
c.1493A>G (p.Asp498Gly)
c.1469A>G (p.Asp490Gly)
c.1424A>G (p.Asp475Gly)
c.1385A>G (p.Asp462Gly)
c.1295A>G (p.Asp432Gly)
c.1250A>G (p.Asp417Gly)
c.1673A>G (p.Asp558Gly)
c.1628A>G (p.Asp543Gly)
c.1682A>G (p.Asp561Gly)
c.1379A>G (p.Asp460Gly)
c.1286A>G (p.Asp429Gly)
c.1283A>G (p.Asp428Gly)
c.1214A>G (p.Asp405Gly)
c.1178A>G (p.Asp393Gly)
c.1175A>G (p.Asp392Gly)
c.1082A>G (p.Asp361Gly)
c.1037A>G (p.Asp346Gly)
2g.127048599T>GCA348373626BIN1c.1292A>C (p.Asp431Ala)
c.1709A>C (p.Asp570Ala)
c.1421A>C (p.Asp474Ala)
c.1484A>C (p.Asp495Ala)
c.1157A>C (p.Asp386Ala)
c.1448A>C (p.Asp483Ala)
c.1580A>C (p.Asp527Ala)
c.1202A>C (p.Asp401Ala)
c.1376A>C (p.Asp459Ala)
c.1355A>C (p.Asp452Ala)
c.1247A>C (p.Asp416Ala)
n.4575A>C
c.1754A>C (p.Asp585Ala)
c.1661A>C (p.Asp554Ala)
c.1616A>C (p.Asp539Ala)
c.1589A>C (p.Asp530Ala)
c.1340A>C (p.Asp447Ala)
c.1085A>C (p.Asp362Ala)
c.1622A>C (p.Asp541Ala)
c.1544A>C (p.Asp515Ala)
c.1514A>C (p.Asp505Ala)
c.1493A>C (p.Asp498Ala)
c.1469A>C (p.Asp490Ala)
c.1424A>C (p.Asp475Ala)
c.1385A>C (p.Asp462Ala)
c.1295A>C (p.Asp432Ala)
c.1250A>C (p.Asp417Ala)
c.1673A>C (p.Asp558Ala)
c.1628A>C (p.Asp543Ala)
c.1682A>C (p.Asp561Ala)
c.1379A>C (p.Asp460Ala)
c.1286A>C (p.Asp429Ala)
c.1283A>C (p.Asp428Ala)
c.1214A>C (p.Asp405Ala)
c.1178A>C (p.Asp393Ala)
c.1175A>C (p.Asp392Ala)
c.1082A>C (p.Asp361Ala)
c.1037A>C (p.Asp346Ala)
2g.127048600C>ACA348373629BIN1c.1291G>T (p.Asp431Tyr)
c.1708G>T (p.Asp570Tyr)
c.1420G>T (p.Asp474Tyr)
c.1483G>T (p.Asp495Tyr)
c.1156G>T (p.Asp386Tyr)
c.1447G>T (p.Asp483Tyr)
c.1579G>T (p.Asp527Tyr)
c.1201G>T (p.Asp401Tyr)
c.1375G>T (p.Asp459Tyr)
c.1354G>T (p.Asp452Tyr)
c.1246G>T (p.Asp416Tyr)
n.4574G>T
c.1753G>T (p.Asp585Tyr)
c.1660G>T (p.Asp554Tyr)
c.1615G>T (p.Asp539Tyr)
c.1588G>T (p.Asp530Tyr)
c.1339G>T (p.Asp447Tyr)
c.1084G>T (p.Asp362Tyr)
c.1621G>T (p.Asp541Tyr)
c.1543G>T (p.Asp515Tyr)
c.1513G>T (p.Asp505Tyr)
c.1492G>T (p.Asp498Tyr)
c.1468G>T (p.Asp490Tyr)
c.1423G>T (p.Asp475Tyr)
c.1384G>T (p.Asp462Tyr)
c.1294G>T (p.Asp432Tyr)
c.1249G>T (p.Asp417Tyr)
c.1672G>T (p.Asp558Tyr)
c.1627G>T (p.Asp543Tyr)
c.1681G>T (p.Asp561Tyr)
c.1378G>T (p.Asp460Tyr)
c.1285G>T (p.Asp429Tyr)
c.1282G>T (p.Asp428Tyr)
c.1213G>T (p.Asp405Tyr)
c.1177G>T (p.Asp393Tyr)
c.1174G>T (p.Asp392Tyr)
c.1081G>T (p.Asp361Tyr)
c.1036G>T (p.Asp346Tyr)
2g.127048600C=CA1286710733BIN1c.1291G= (p.Asp431=)
c.1708G= (p.Asp570=)
c.1420G= (p.Asp474=)
c.1483G= (p.Asp495=)
c.1156G= (p.Asp386=)
c.1447G= (p.Asp483=)
c.1579G= (p.Asp527=)
c.1201G= (p.Asp401=)
c.1375G= (p.Asp459=)
c.1354G= (p.Asp452=)
c.1246G= (p.Asp416=)
n.4574G=
c.1753G= (p.Asp585=)
c.1660G= (p.Asp554=)
c.1615G= (p.Asp539=)
c.1588G= (p.Asp530=)
c.1339G= (p.Asp447=)
c.1084G= (p.Asp362=)
c.1621G= (p.Asp541=)
c.1543G= (p.Asp515=)
c.1513G= (p.Asp505=)
c.1492G= (p.Asp498=)
c.1468G= (p.Asp490=)
c.1423G= (p.Asp475=)
c.1384G= (p.Asp462=)
c.1294G= (p.Asp432=)
c.1249G= (p.Asp417=)
c.1672G= (p.Asp558=)
c.1627G= (p.Asp543=)
c.1681G= (p.Asp561=)
c.1378G= (p.Asp460=)
c.1285G= (p.Asp429=)
c.1282G= (p.Asp428=)
c.1213G= (p.Asp405=)
c.1177G= (p.Asp393=)
c.1174G= (p.Asp392=)
c.1081G= (p.Asp361=)
c.1036G= (p.Asp346=)
2g.127048600C>GCA348373631BIN1c.1291G>C (p.Asp431His)
c.1708G>C (p.Asp570His)
c.1420G>C (p.Asp474His)
c.1483G>C (p.Asp495His)
c.1156G>C (p.Asp386His)
c.1447G>C (p.Asp483His)
c.1579G>C (p.Asp527His)
c.1201G>C (p.Asp401His)
c.1375G>C (p.Asp459His)
c.1354G>C (p.Asp452His)
c.1246G>C (p.Asp416His)
n.4574G>C
c.1753G>C (p.Asp585His)
c.1660G>C (p.Asp554His)
c.1615G>C (p.Asp539His)
c.1588G>C (p.Asp530His)
c.1339G>C (p.Asp447His)
c.1084G>C (p.Asp362His)
c.1621G>C (p.Asp541His)
c.1543G>C (p.Asp515His)
c.1513G>C (p.Asp505His)
c.1492G>C (p.Asp498His)
c.1468G>C (p.Asp490His)
c.1423G>C (p.Asp475His)
c.1384G>C (p.Asp462His)
c.1294G>C (p.Asp432His)
c.1249G>C (p.Asp417His)
c.1672G>C (p.Asp558His)
c.1627G>C (p.Asp543His)
c.1681G>C (p.Asp561His)
c.1378G>C (p.Asp460His)
c.1285G>C (p.Asp429His)
c.1282G>C (p.Asp428His)
c.1213G>C (p.Asp405His)
c.1177G>C (p.Asp393His)
c.1174G>C (p.Asp392His)
c.1081G>C (p.Asp361His)
c.1036G>C (p.Asp346His)
2g.127048600C>TCA55335014BIN1c.1291G>A (p.Asp431Asn)
c.1708G>A (p.Asp570Asn)
c.1420G>A (p.Asp474Asn)
c.1483G>A (p.Asp495Asn)
c.1156G>A (p.Asp386Asn)
c.1447G>A (p.Asp483Asn)
c.1579G>A (p.Asp527Asn)
c.1201G>A (p.Asp401Asn)
c.1375G>A (p.Asp459Asn)
c.1354G>A (p.Asp452Asn)
c.1246G>A (p.Asp416Asn)
n.4574G>A
c.1753G>A (p.Asp585Asn)
c.1660G>A (p.Asp554Asn)
c.1615G>A (p.Asp539Asn)
c.1588G>A (p.Asp530Asn)
c.1339G>A (p.Asp447Asn)
c.1084G>A (p.Asp362Asn)
c.1621G>A (p.Asp541Asn)
c.1543G>A (p.Asp515Asn)
c.1513G>A (p.Asp505Asn)
c.1492G>A (p.Asp498Asn)
c.1468G>A (p.Asp490Asn)
c.1423G>A (p.Asp475Asn)
c.1384G>A (p.Asp462Asn)
c.1294G>A (p.Asp432Asn)
c.1249G>A (p.Asp417Asn)
c.1672G>A (p.Asp558Asn)
c.1627G>A (p.Asp543Asn)
c.1681G>A (p.Asp561Asn)
c.1378G>A (p.Asp460Asn)
c.1285G>A (p.Asp429Asn)
c.1282G>A (p.Asp428Asn)
c.1213G>A (p.Asp405Asn)
c.1177G>A (p.Asp393Asn)
c.1174G>A (p.Asp392Asn)
c.1081G>A (p.Asp361Asn)
c.1036G>A (p.Asp346Asn)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched