Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86716613C>ACA470375797LDB3n.515-2114C>A
c.1329C>A (p.Thr443=)
c.1377C>A (p.Thr459=)
c.1518C>A (p.Thr506=)
c.1188C>A (p.Thr396=)
c.1533C>A (p.Thr511=)
c.1770C>A (p.Thr590=)
c.1722C>A (p.Thr574=)
c.1581C>A (p.Thr527=)
c.1566C>A (p.Thr522=)
c.1425C>A (p.Thr475=)
c.1236C>A (p.Thr412=)
c.1221C>A (p.Thr407=)
c.726C>A (p.Thr242=)
c.537C>A (p.Thr179=)
10g.86716613C>GCA470375799LDB3n.515-2114C>G
c.1329C>G (p.Thr443=)
c.1377C>G (p.Thr459=)
c.1518C>G (p.Thr506=)
c.1188C>G (p.Thr396=)
c.1533C>G (p.Thr511=)
c.1770C>G (p.Thr590=)
c.1722C>G (p.Thr574=)
c.1581C>G (p.Thr527=)
c.1566C>G (p.Thr522=)
c.1425C>G (p.Thr475=)
c.1236C>G (p.Thr412=)
c.1221C>G (p.Thr407=)
c.726C>G (p.Thr242=)
c.537C>G (p.Thr179=)
10g.86716613C>TCA470375801LDB3n.515-2114C>T
c.1329C>T (p.Thr443=)
c.1377C>T (p.Thr459=)
c.1518C>T (p.Thr506=)
c.1188C>T (p.Thr396=)
c.1533C>T (p.Thr511=)
c.1770C>T (p.Thr590=)
c.1722C>T (p.Thr574=)
c.1581C>T (p.Thr527=)
c.1566C>T (p.Thr522=)
c.1425C>T (p.Thr475=)
c.1236C>T (p.Thr412=)
c.1221C>T (p.Thr407=)
c.726C>T (p.Thr242=)
c.537C>T (p.Thr179=)
10g.86716614A=CA1925631960LDB3n.515-2113A=
c.1330A= (p.Thr444=)
c.1378A= (p.Thr460=)
c.1519A= (p.Thr507=)
c.1189A= (p.Thr397=)
c.1534A= (p.Thr512=)
c.1771A= (p.Thr591=)
c.1723A= (p.Thr575=)
c.1582A= (p.Thr528=)
c.1567A= (p.Thr523=)
c.1426A= (p.Thr476=)
c.1237A= (p.Thr413=)
c.1222A= (p.Thr408=)
c.727A= (p.Thr243=)
c.538A= (p.Thr180=)
10g.86716614A>CCA377451131LDB3n.515-2113A>C
c.1330A>C (p.Thr444Pro)
c.1378A>C (p.Thr460Pro)
c.1519A>C (p.Thr507Pro)
c.1189A>C (p.Thr397Pro)
c.1534A>C (p.Thr512Pro)
c.1771A>C (p.Thr591Pro)
c.1723A>C (p.Thr575Pro)
c.1582A>C (p.Thr528Pro)
c.1567A>C (p.Thr523Pro)
c.1426A>C (p.Thr476Pro)
c.1237A>C (p.Thr413Pro)
c.1222A>C (p.Thr408Pro)
c.727A>C (p.Thr243Pro)
c.538A>C (p.Thr180Pro)
 dbSNP
10g.86716614A>GCA377451135LDB3n.515-2113A>G
c.1330A>G (p.Thr444Ala)
c.1378A>G (p.Thr460Ala)
c.1519A>G (p.Thr507Ala)
c.1189A>G (p.Thr397Ala)
c.1534A>G (p.Thr512Ala)
c.1771A>G (p.Thr591Ala)
c.1723A>G (p.Thr575Ala)
c.1582A>G (p.Thr528Ala)
c.1567A>G (p.Thr523Ala)
c.1426A>G (p.Thr476Ala)
c.1237A>G (p.Thr413Ala)
c.1222A>G (p.Thr408Ala)
c.727A>G (p.Thr243Ala)
c.538A>G (p.Thr180Ala)
10g.86716614A>TCA377451133LDB3n.515-2113A>T
c.1330A>T (p.Thr444Ser)
c.1378A>T (p.Thr460Ser)
c.1519A>T (p.Thr507Ser)
c.1189A>T (p.Thr397Ser)
c.1534A>T (p.Thr512Ser)
c.1771A>T (p.Thr591Ser)
c.1723A>T (p.Thr575Ser)
c.1582A>T (p.Thr528Ser)
c.1567A>T (p.Thr523Ser)
c.1426A>T (p.Thr476Ser)
c.1237A>T (p.Thr413Ser)
c.1222A>T (p.Thr408Ser)
c.727A>T (p.Thr243Ser)
c.538A>T (p.Thr180Ser)
10g.86716615C>ACA5585176LDB3n.515-2112C>A
c.1331C>A (p.Thr444Asn)
c.1379C>A (p.Thr460Asn)
c.1520C>A (p.Thr507Asn)
c.1190C>A (p.Thr397Asn)
c.1535C>A (p.Thr512Asn)
c.1772C>A (p.Thr591Asn)
c.1724C>A (p.Thr575Asn)
c.1583C>A (p.Thr528Asn)
c.1568C>A (p.Thr523Asn)
c.1427C>A (p.Thr476Asn)
c.1238C>A (p.Thr413Asn)
c.1223C>A (p.Thr408Asn)
c.728C>A (p.Thr243Asn)
c.539C>A (p.Thr180Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716615C=CA1925631961LDB3n.515-2112C=
c.1331C= (p.Thr444=)
c.1379C= (p.Thr460=)
c.1520C= (p.Thr507=)
c.1190C= (p.Thr397=)
c.1535C= (p.Thr512=)
c.1772C= (p.Thr591=)
c.1724C= (p.Thr575=)
c.1583C= (p.Thr528=)
c.1568C= (p.Thr523=)
c.1427C= (p.Thr476=)
c.1238C= (p.Thr413=)
c.1223C= (p.Thr408=)
c.728C= (p.Thr243=)
c.539C= (p.Thr180=)
10g.86716615C>GCA377451138LDB3n.515-2112C>G
c.1331C>G (p.Thr444Ser)
c.1379C>G (p.Thr460Ser)
c.1520C>G (p.Thr507Ser)
c.1190C>G (p.Thr397Ser)
c.1535C>G (p.Thr512Ser)
c.1772C>G (p.Thr591Ser)
c.1724C>G (p.Thr575Ser)
c.1583C>G (p.Thr528Ser)
c.1568C>G (p.Thr523Ser)
c.1427C>G (p.Thr476Ser)
c.1238C>G (p.Thr413Ser)
c.1223C>G (p.Thr408Ser)
c.728C>G (p.Thr243Ser)
c.539C>G (p.Thr180Ser)
10g.86716615C>TCA377451140LDB3n.515-2112C>T
c.1331C>T (p.Thr444Ile)
c.1379C>T (p.Thr460Ile)
c.1520C>T (p.Thr507Ile)
c.1190C>T (p.Thr397Ile)
c.1535C>T (p.Thr512Ile)
c.1772C>T (p.Thr591Ile)
c.1724C>T (p.Thr575Ile)
c.1583C>T (p.Thr528Ile)
c.1568C>T (p.Thr523Ile)
c.1427C>T (p.Thr476Ile)
c.1238C>T (p.Thr413Ile)
c.1223C>T (p.Thr408Ile)
c.728C>T (p.Thr243Ile)
c.539C>T (p.Thr180Ile)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC
10g.86716616C>ACA470375815LDB3n.515-2111C>A
c.1332C>A (p.Thr444=)
c.1380C>A (p.Thr460=)
c.1521C>A (p.Thr507=)
c.1191C>A (p.Thr397=)
c.1536C>A (p.Thr512=)
c.1773C>A (p.Thr591=)
c.1725C>A (p.Thr575=)
c.1584C>A (p.Thr528=)
c.1569C>A (p.Thr523=)
c.1428C>A (p.Thr476=)
c.1239C>A (p.Thr413=)
c.1224C>A (p.Thr408=)
c.729C>A (p.Thr243=)
c.540C>A (p.Thr180=)
10g.86716616C=CA1925631962LDB3n.515-2111C=
c.1332C= (p.Thr444=)
c.1380C= (p.Thr460=)
c.1521C= (p.Thr507=)
c.1191C= (p.Thr397=)
c.1536C= (p.Thr512=)
c.1773C= (p.Thr591=)
c.1725C= (p.Thr575=)
c.1584C= (p.Thr528=)
c.1569C= (p.Thr523=)
c.1428C= (p.Thr476=)
c.1239C= (p.Thr413=)
c.1224C= (p.Thr408=)
c.729C= (p.Thr243=)
c.540C= (p.Thr180=)
10g.86716616C>GCA470375816LDB3n.515-2111C>G
c.1332C>G (p.Thr444=)
c.1380C>G (p.Thr460=)
c.1521C>G (p.Thr507=)
c.1191C>G (p.Thr397=)
c.1536C>G (p.Thr512=)
c.1773C>G (p.Thr591=)
c.1725C>G (p.Thr575=)
c.1584C>G (p.Thr528=)
c.1569C>G (p.Thr523=)
c.1428C>G (p.Thr476=)
c.1239C>G (p.Thr413=)
c.1224C>G (p.Thr408=)
c.729C>G (p.Thr243=)
c.540C>G (p.Thr180=)
10g.86716616C>TCA5585177LDB3n.515-2111C>T
c.1332C>T (p.Thr444=)
c.1380C>T (p.Thr460=)
c.1521C>T (p.Thr507=)
c.1191C>T (p.Thr397=)
c.1536C>T (p.Thr512=)
c.1773C>T (p.Thr591=)
c.1725C>T (p.Thr575=)
c.1584C>T (p.Thr528=)
c.1569C>T (p.Thr523=)
c.1428C>T (p.Thr476=)
c.1239C>T (p.Thr413=)
c.1224C>T (p.Thr408=)
c.729C>T (p.Thr243=)
c.540C>T (p.Thr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716617T>ACA377451147LDB3n.515-2110T>A
c.1333T>A (p.Ser445Thr)
c.1381T>A (p.Ser461Thr)
c.1522T>A (p.Ser508Thr)
c.1192T>A (p.Ser398Thr)
c.1537T>A (p.Ser513Thr)
c.1774T>A (p.Ser592Thr)
c.1726T>A (p.Ser576Thr)
c.1585T>A (p.Ser529Thr)
c.1570T>A (p.Ser524Thr)
c.1429T>A (p.Ser477Thr)
c.1240T>A (p.Ser414Thr)
c.1225T>A (p.Ser409Thr)
c.730T>A (p.Ser244Thr)
c.541T>A (p.Ser181Thr)
10g.86716617T>CCA377451144LDB3n.515-2110T>C
c.1333T>C (p.Ser445Pro)
c.1381T>C (p.Ser461Pro)
c.1522T>C (p.Ser508Pro)
c.1192T>C (p.Ser398Pro)
c.1537T>C (p.Ser513Pro)
c.1774T>C (p.Ser592Pro)
c.1726T>C (p.Ser576Pro)
c.1585T>C (p.Ser529Pro)
c.1570T>C (p.Ser524Pro)
c.1429T>C (p.Ser477Pro)
c.1240T>C (p.Ser414Pro)
c.1225T>C (p.Ser409Pro)
c.730T>C (p.Ser244Pro)
c.541T>C (p.Ser181Pro)
10g.86716617T>GCA377451145LDB3n.515-2110T>G
c.1333T>G (p.Ser445Ala)
c.1381T>G (p.Ser461Ala)
c.1522T>G (p.Ser508Ala)
c.1192T>G (p.Ser398Ala)
c.1537T>G (p.Ser513Ala)
c.1774T>G (p.Ser592Ala)
c.1726T>G (p.Ser576Ala)
c.1585T>G (p.Ser529Ala)
c.1570T>G (p.Ser524Ala)
c.1429T>G (p.Ser477Ala)
c.1240T>G (p.Ser414Ala)
c.1225T>G (p.Ser409Ala)
c.730T>G (p.Ser244Ala)
c.541T>G (p.Ser181Ala)
10g.86716618C>ACA377451148LDB3n.515-2109C>A
c.1334C>A (p.Ser445Tyr)
c.1382C>A (p.Ser461Tyr)
c.1523C>A (p.Ser508Tyr)
c.1193C>A (p.Ser398Tyr)
c.1538C>A (p.Ser513Tyr)
c.1775C>A (p.Ser592Tyr)
c.1727C>A (p.Ser576Tyr)
c.1586C>A (p.Ser529Tyr)
c.1571C>A (p.Ser524Tyr)
c.1430C>A (p.Ser477Tyr)
c.1241C>A (p.Ser414Tyr)
c.1226C>A (p.Ser409Tyr)
c.731C>A (p.Ser244Tyr)
c.542C>A (p.Ser181Tyr)
10g.86716618C>GCA377451149LDB3n.515-2109C>G
c.1334C>G (p.Ser445Cys)
c.1382C>G (p.Ser461Cys)
c.1523C>G (p.Ser508Cys)
c.1193C>G (p.Ser398Cys)
c.1538C>G (p.Ser513Cys)
c.1775C>G (p.Ser592Cys)
c.1727C>G (p.Ser576Cys)
c.1586C>G (p.Ser529Cys)
c.1571C>G (p.Ser524Cys)
c.1430C>G (p.Ser477Cys)
c.1241C>G (p.Ser414Cys)
c.1226C>G (p.Ser409Cys)
c.731C>G (p.Ser244Cys)
c.542C>G (p.Ser181Cys)
10g.86716618C>TCA377451154LDB3n.515-2109C>T
c.1334C>T (p.Ser445Phe)
c.1382C>T (p.Ser461Phe)
c.1523C>T (p.Ser508Phe)
c.1193C>T (p.Ser398Phe)
c.1538C>T (p.Ser513Phe)
c.1775C>T (p.Ser592Phe)
c.1727C>T (p.Ser576Phe)
c.1586C>T (p.Ser529Phe)
c.1571C>T (p.Ser524Phe)
c.1430C>T (p.Ser477Phe)
c.1241C>T (p.Ser414Phe)
c.1226C>T (p.Ser409Phe)
c.731C>T (p.Ser244Phe)
c.542C>T (p.Ser181Phe)
10g.86716619C>ACA470375833LDB3n.515-2108C>A
c.1335C>A (p.Ser445=)
c.1383C>A (p.Ser461=)
c.1524C>A (p.Ser508=)
c.1194C>A (p.Ser398=)
c.1539C>A (p.Ser513=)
c.1776C>A (p.Ser592=)
c.1728C>A (p.Ser576=)
c.1587C>A (p.Ser529=)
c.1572C>A (p.Ser524=)
c.1431C>A (p.Ser477=)
c.1242C>A (p.Ser414=)
c.1227C>A (p.Ser409=)
c.732C>A (p.Ser244=)
c.543C>A (p.Ser181=)
10g.86716619C>GCA470375835LDB3n.515-2108C>G
c.1335C>G (p.Ser445=)
c.1383C>G (p.Ser461=)
c.1524C>G (p.Ser508=)
c.1194C>G (p.Ser398=)
c.1539C>G (p.Ser513=)
c.1776C>G (p.Ser592=)
c.1728C>G (p.Ser576=)
c.1587C>G (p.Ser529=)
c.1572C>G (p.Ser524=)
c.1431C>G (p.Ser477=)
c.1242C>G (p.Ser414=)
c.1227C>G (p.Ser409=)
c.732C>G (p.Ser244=)
c.543C>G (p.Ser181=)
10g.86716619C>TCA470375838LDB3n.515-2108C>T
c.1335C>T (p.Ser445=)
c.1383C>T (p.Ser461=)
c.1524C>T (p.Ser508=)
c.1194C>T (p.Ser398=)
c.1539C>T (p.Ser513=)
c.1776C>T (p.Ser592=)
c.1728C>T (p.Ser576=)
c.1587C>T (p.Ser529=)
c.1572C>T (p.Ser524=)
c.1431C>T (p.Ser477=)
c.1242C>T (p.Ser414=)
c.1227C>T (p.Ser409=)
c.732C>T (p.Ser244=)
c.543C>T (p.Ser181=)
 gnomAD v4
10g.86716620A>CCA377451157LDB3n.515-2107A>C
c.1336A>C (p.Ile446Leu)
c.1384A>C (p.Ile462Leu)
c.1525A>C (p.Ile509Leu)
c.1195A>C (p.Ile399Leu)
c.1540A>C (p.Ile514Leu)
c.1777A>C (p.Ile593Leu)
c.1729A>C (p.Ile577Leu)
c.1588A>C (p.Ile530Leu)
c.1573A>C (p.Ile525Leu)
c.1432A>C (p.Ile478Leu)
c.1243A>C (p.Ile415Leu)
c.1228A>C (p.Ile410Leu)
c.733A>C (p.Ile245Leu)
c.544A>C (p.Ile182Leu)
10g.86716620A>GCA377451159LDB3n.515-2107A>G
c.1336A>G (p.Ile446Val)
c.1384A>G (p.Ile462Val)
c.1525A>G (p.Ile509Val)
c.1195A>G (p.Ile399Val)
c.1540A>G (p.Ile514Val)
c.1777A>G (p.Ile593Val)
c.1729A>G (p.Ile577Val)
c.1588A>G (p.Ile530Val)
c.1573A>G (p.Ile525Val)
c.1432A>G (p.Ile478Val)
c.1243A>G (p.Ile415Val)
c.1228A>G (p.Ile410Val)
c.733A>G (p.Ile245Val)
c.544A>G (p.Ile182Val)
 gnomAD v4
10g.86716620A>TCA377451161LDB3n.515-2107A>T
c.1336A>T (p.Ile446Phe)
c.1384A>T (p.Ile462Phe)
c.1525A>T (p.Ile509Phe)
c.1195A>T (p.Ile399Phe)
c.1540A>T (p.Ile514Phe)
c.1777A>T (p.Ile593Phe)
c.1729A>T (p.Ile577Phe)
c.1588A>T (p.Ile530Phe)
c.1573A>T (p.Ile525Phe)
c.1432A>T (p.Ile478Phe)
c.1243A>T (p.Ile415Phe)
c.1228A>T (p.Ile410Phe)
c.733A>T (p.Ile245Phe)
c.544A>T (p.Ile182Phe)
10g.86716621T>ACA377451162LDB3n.515-2106T>A
c.1337T>A (p.Ile446Asn)
c.1385T>A (p.Ile462Asn)
c.1526T>A (p.Ile509Asn)
c.1196T>A (p.Ile399Asn)
c.1541T>A (p.Ile514Asn)
c.1778T>A (p.Ile593Asn)
c.1730T>A (p.Ile577Asn)
c.1589T>A (p.Ile530Asn)
c.1574T>A (p.Ile525Asn)
c.1433T>A (p.Ile478Asn)
c.1244T>A (p.Ile415Asn)
c.1229T>A (p.Ile410Asn)
c.734T>A (p.Ile245Asn)
c.545T>A (p.Ile182Asn)
10g.86716621T>CCA377451164LDB3n.515-2106T>C
c.1337T>C (p.Ile446Thr)
c.1385T>C (p.Ile462Thr)
c.1526T>C (p.Ile509Thr)
c.1196T>C (p.Ile399Thr)
c.1541T>C (p.Ile514Thr)
c.1778T>C (p.Ile593Thr)
c.1730T>C (p.Ile577Thr)
c.1589T>C (p.Ile530Thr)
c.1574T>C (p.Ile525Thr)
c.1433T>C (p.Ile478Thr)
c.1244T>C (p.Ile415Thr)
c.1229T>C (p.Ile410Thr)
c.734T>C (p.Ile245Thr)
c.545T>C (p.Ile182Thr)
10g.86716621T>GCA377451166LDB3n.515-2106T>G
c.1337T>G (p.Ile446Ser)
c.1385T>G (p.Ile462Ser)
c.1526T>G (p.Ile509Ser)
c.1196T>G (p.Ile399Ser)
c.1541T>G (p.Ile514Ser)
c.1778T>G (p.Ile593Ser)
c.1730T>G (p.Ile577Ser)
c.1589T>G (p.Ile530Ser)
c.1574T>G (p.Ile525Ser)
c.1433T>G (p.Ile478Ser)
c.1244T>G (p.Ile415Ser)
c.1229T>G (p.Ile410Ser)
c.734T>G (p.Ile245Ser)
c.545T>G (p.Ile182Ser)
10g.86716622C>ACA470375852LDB3n.515-2105C>A
c.1338C>A (p.Ile446=)
c.1386C>A (p.Ile462=)
c.1527C>A (p.Ile509=)
c.1197C>A (p.Ile399=)
c.1542C>A (p.Ile514=)
c.1779C>A (p.Ile593=)
c.1731C>A (p.Ile577=)
c.1590C>A (p.Ile530=)
c.1575C>A (p.Ile525=)
c.1434C>A (p.Ile478=)
c.1245C>A (p.Ile415=)
c.1230C>A (p.Ile410=)
c.735C>A (p.Ile245=)
c.546C>A (p.Ile182=)
10g.86716622C>GCA377451168LDB3n.515-2105C>G
c.1338C>G (p.Ile446Met)
c.1386C>G (p.Ile462Met)
c.1527C>G (p.Ile509Met)
c.1197C>G (p.Ile399Met)
c.1542C>G (p.Ile514Met)
c.1779C>G (p.Ile593Met)
c.1731C>G (p.Ile577Met)
c.1590C>G (p.Ile530Met)
c.1575C>G (p.Ile525Met)
c.1434C>G (p.Ile478Met)
c.1245C>G (p.Ile415Met)
c.1230C>G (p.Ile410Met)
c.735C>G (p.Ile245Met)
c.546C>G (p.Ile182Met)
10g.86716622C>TCA470375856LDB3n.515-2105C>T
c.1338C>T (p.Ile446=)
c.1386C>T (p.Ile462=)
c.1527C>T (p.Ile509=)
c.1197C>T (p.Ile399=)
c.1542C>T (p.Ile514=)
c.1779C>T (p.Ile593=)
c.1731C>T (p.Ile577=)
c.1590C>T (p.Ile530=)
c.1575C>T (p.Ile525=)
c.1434C>T (p.Ile478=)
c.1245C>T (p.Ile415=)
c.1230C>T (p.Ile410=)
c.735C>T (p.Ile245=)
c.546C>T (p.Ile182=)
10g.86716623delCA2609997615LDB3n.515-2104del
c.1339del (p.Ser447AlafsTer?)
c.1387del (p.Ser463AlafsTer?)
c.1528del (p.Ser510AlafsTer?)
c.1198del (p.Ser400AlafsTer?)
c.1543del (p.Ser515AlafsTer?)
c.1780del (p.Ser594AlafsTer?)
c.1732del (p.Ser578AlafsTer?)
c.1591del (p.Ser531AlafsTer?)
c.1576del (p.Ser526AlafsTer?)
c.1435del (p.Ser479AlafsTer?)
c.1246del (p.Ser416AlafsTer?)
c.1231del (p.Ser411AlafsTer?)
c.736del (p.Ser246AlafsTer?)
c.547del (p.Ser183AlafsTer?)
 gnomAD v4
10g.86716623A>CCA377451171LDB3n.515-2104A>C
c.1339A>C (p.Ser447Arg)
c.1387A>C (p.Ser463Arg)
c.1528A>C (p.Ser510Arg)
c.1198A>C (p.Ser400Arg)
c.1543A>C (p.Ser515Arg)
c.1780A>C (p.Ser594Arg)
c.1732A>C (p.Ser578Arg)
c.1591A>C (p.Ser531Arg)
c.1576A>C (p.Ser526Arg)
c.1435A>C (p.Ser479Arg)
c.1246A>C (p.Ser416Arg)
c.1231A>C (p.Ser411Arg)
c.736A>C (p.Ser246Arg)
c.547A>C (p.Ser183Arg)
10g.86716623A>GCA377451172LDB3n.515-2104A>G
c.1339A>G (p.Ser447Gly)
c.1387A>G (p.Ser463Gly)
c.1528A>G (p.Ser510Gly)
c.1198A>G (p.Ser400Gly)
c.1543A>G (p.Ser515Gly)
c.1780A>G (p.Ser594Gly)
c.1732A>G (p.Ser578Gly)
c.1591A>G (p.Ser531Gly)
c.1576A>G (p.Ser526Gly)
c.1435A>G (p.Ser479Gly)
c.1246A>G (p.Ser416Gly)
c.1231A>G (p.Ser411Gly)
c.736A>G (p.Ser246Gly)
c.547A>G (p.Ser183Gly)
10g.86716623A>TCA377451174LDB3n.515-2104A>T
c.1339A>T (p.Ser447Cys)
c.1387A>T (p.Ser463Cys)
c.1528A>T (p.Ser510Cys)
c.1198A>T (p.Ser400Cys)
c.1543A>T (p.Ser515Cys)
c.1780A>T (p.Ser594Cys)
c.1732A>T (p.Ser578Cys)
c.1591A>T (p.Ser531Cys)
c.1576A>T (p.Ser526Cys)
c.1435A>T (p.Ser479Cys)
c.1246A>T (p.Ser416Cys)
c.1231A>T (p.Ser411Cys)
c.736A>T (p.Ser246Cys)
c.547A>T (p.Ser183Cys)
10g.86716624G>ACA5585178LDB3n.515-2103G>A
c.1340G>A (p.Ser447Asn)
c.1388G>A (p.Ser463Asn)
c.1529G>A (p.Ser510Asn)
c.1199G>A (p.Ser400Asn)
c.1544G>A (p.Ser515Asn)
c.1781G>A (p.Ser594Asn)
c.1733G>A (p.Ser578Asn)
c.1592G>A (p.Ser531Asn)
c.1577G>A (p.Ser526Asn)
c.1436G>A (p.Ser479Asn)
c.1247G>A (p.Ser416Asn)
c.1232G>A (p.Ser411Asn)
c.737G>A (p.Ser246Asn)
c.548G>A (p.Ser183Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716624G>CCA377451179LDB3n.515-2103G>C
c.1340G>C (p.Ser447Thr)
c.1388G>C (p.Ser463Thr)
c.1529G>C (p.Ser510Thr)
c.1199G>C (p.Ser400Thr)
c.1544G>C (p.Ser515Thr)
c.1781G>C (p.Ser594Thr)
c.1733G>C (p.Ser578Thr)
c.1592G>C (p.Ser531Thr)
c.1577G>C (p.Ser526Thr)
c.1436G>C (p.Ser479Thr)
c.1247G>C (p.Ser416Thr)
c.1232G>C (p.Ser411Thr)
c.737G>C (p.Ser246Thr)
c.548G>C (p.Ser183Thr)
10g.86716624G=CA1925631963LDB3n.515-2103G=
c.1340G= (p.Ser447=)
c.1388G= (p.Ser463=)
c.1529G= (p.Ser510=)
c.1199G= (p.Ser400=)
c.1544G= (p.Ser515=)
c.1781G= (p.Ser594=)
c.1733G= (p.Ser578=)
c.1592G= (p.Ser531=)
c.1577G= (p.Ser526=)
c.1436G= (p.Ser479=)
c.1247G= (p.Ser416=)
c.1232G= (p.Ser411=)
c.737G= (p.Ser246=)
c.548G= (p.Ser183=)
10g.86716624G>TCA377451177LDB3n.515-2103G>T
c.1340G>T (p.Ser447Ile)
c.1388G>T (p.Ser463Ile)
c.1529G>T (p.Ser510Ile)
c.1199G>T (p.Ser400Ile)
c.1544G>T (p.Ser515Ile)
c.1781G>T (p.Ser594Ile)
c.1733G>T (p.Ser578Ile)
c.1592G>T (p.Ser531Ile)
c.1577G>T (p.Ser526Ile)
c.1436G>T (p.Ser479Ile)
c.1247G>T (p.Ser416Ile)
c.1232G>T (p.Ser411Ile)
c.737G>T (p.Ser246Ile)
c.548G>T (p.Ser183Ile)
10g.86716625C>ACA377451182LDB3n.515-2102C>A
c.1341C>A (p.Ser447Arg)
c.1389C>A (p.Ser463Arg)
c.1530C>A (p.Ser510Arg)
c.1200C>A (p.Ser400Arg)
c.1545C>A (p.Ser515Arg)
c.1782C>A (p.Ser594Arg)
c.1734C>A (p.Ser578Arg)
c.1593C>A (p.Ser531Arg)
c.1578C>A (p.Ser526Arg)
c.1437C>A (p.Ser479Arg)
c.1248C>A (p.Ser416Arg)
c.1233C>A (p.Ser411Arg)
c.738C>A (p.Ser246Arg)
c.549C>A (p.Ser183Arg)
10g.86716625C>GCA377451184LDB3n.515-2102C>G
c.1341C>G (p.Ser447Arg)
c.1389C>G (p.Ser463Arg)
c.1530C>G (p.Ser510Arg)
c.1200C>G (p.Ser400Arg)
c.1545C>G (p.Ser515Arg)
c.1782C>G (p.Ser594Arg)
c.1734C>G (p.Ser578Arg)
c.1593C>G (p.Ser531Arg)
c.1578C>G (p.Ser526Arg)
c.1437C>G (p.Ser479Arg)
c.1248C>G (p.Ser416Arg)
c.1233C>G (p.Ser411Arg)
c.738C>G (p.Ser246Arg)
c.549C>G (p.Ser183Arg)
10g.86716625C>TCA470375874LDB3n.515-2102C>T
c.1341C>T (p.Ser447=)
c.1389C>T (p.Ser463=)
c.1530C>T (p.Ser510=)
c.1200C>T (p.Ser400=)
c.1545C>T (p.Ser515=)
c.1782C>T (p.Ser594=)
c.1734C>T (p.Ser578=)
c.1593C>T (p.Ser531=)
c.1578C>T (p.Ser526=)
c.1437C>T (p.Ser479=)
c.1248C>T (p.Ser416=)
c.1233C>T (p.Ser411=)
c.738C>T (p.Ser246=)
c.549C>T (p.Ser183=)
10g.86716626A>CCA377451187LDB3n.515-2101A>C
c.1342A>C (p.Lys448Gln)
c.1390A>C (p.Lys464Gln)
c.1531A>C (p.Lys511Gln)
c.1201A>C (p.Lys401Gln)
c.1546A>C (p.Lys516Gln)
c.1783A>C (p.Lys595Gln)
c.1735A>C (p.Lys579Gln)
c.1594A>C (p.Lys532Gln)
c.1579A>C (p.Lys527Gln)
c.1438A>C (p.Lys480Gln)
c.1249A>C (p.Lys417Gln)
c.1234A>C (p.Lys412Gln)
c.739A>C (p.Lys247Gln)
c.550A>C (p.Lys184Gln)
10g.86716626A>GCA377451188LDB3n.515-2101A>G
c.1342A>G (p.Lys448Glu)
c.1390A>G (p.Lys464Glu)
c.1531A>G (p.Lys511Glu)
c.1201A>G (p.Lys401Glu)
c.1546A>G (p.Lys516Glu)
c.1783A>G (p.Lys595Glu)
c.1735A>G (p.Lys579Glu)
c.1594A>G (p.Lys532Glu)
c.1579A>G (p.Lys527Glu)
c.1438A>G (p.Lys480Glu)
c.1249A>G (p.Lys417Glu)
c.1234A>G (p.Lys412Glu)
c.739A>G (p.Lys247Glu)
c.550A>G (p.Lys184Glu)
10g.86716626A>TCA377451190LDB3n.515-2101A>T
c.1342A>T (p.Lys448Ter)
c.1390A>T (p.Lys464Ter)
c.1531A>T (p.Lys511Ter)
c.1201A>T (p.Lys401Ter)
c.1546A>T (p.Lys516Ter)
c.1783A>T (p.Lys595Ter)
c.1735A>T (p.Lys579Ter)
c.1594A>T (p.Lys532Ter)
c.1579A>T (p.Lys527Ter)
c.1438A>T (p.Lys480Ter)
c.1249A>T (p.Lys417Ter)
c.1234A>T (p.Lys412Ter)
c.739A>T (p.Lys247Ter)
c.550A>T (p.Lys184Ter)
10g.86716627A>CCA377451192LDB3n.515-2100A>C
c.1343A>C (p.Lys448Thr)
c.1391A>C (p.Lys464Thr)
c.1532A>C (p.Lys511Thr)
c.1202A>C (p.Lys401Thr)
c.1547A>C (p.Lys516Thr)
c.1784A>C (p.Lys595Thr)
c.1736A>C (p.Lys579Thr)
c.1595A>C (p.Lys532Thr)
c.1580A>C (p.Lys527Thr)
c.1439A>C (p.Lys480Thr)
c.1250A>C (p.Lys417Thr)
c.1235A>C (p.Lys412Thr)
c.740A>C (p.Lys247Thr)
c.551A>C (p.Lys184Thr)
10g.86716627A>GCA377451194LDB3n.515-2100A>G
c.1343A>G (p.Lys448Arg)
c.1391A>G (p.Lys464Arg)
c.1532A>G (p.Lys511Arg)
c.1202A>G (p.Lys401Arg)
c.1547A>G (p.Lys516Arg)
c.1784A>G (p.Lys595Arg)
c.1736A>G (p.Lys579Arg)
c.1595A>G (p.Lys532Arg)
c.1580A>G (p.Lys527Arg)
c.1439A>G (p.Lys480Arg)
c.1250A>G (p.Lys417Arg)
c.1235A>G (p.Lys412Arg)
c.740A>G (p.Lys247Arg)
c.551A>G (p.Lys184Arg)
10g.86716627A>TCA377451197LDB3n.515-2100A>T
c.1343A>T (p.Lys448Met)
c.1391A>T (p.Lys464Met)
c.1532A>T (p.Lys511Met)
c.1202A>T (p.Lys401Met)
c.1547A>T (p.Lys516Met)
c.1784A>T (p.Lys595Met)
c.1736A>T (p.Lys579Met)
c.1595A>T (p.Lys532Met)
c.1580A>T (p.Lys527Met)
c.1439A>T (p.Lys480Met)
c.1250A>T (p.Lys417Met)
c.1235A>T (p.Lys412Met)
c.740A>T (p.Lys247Met)
c.551A>T (p.Lys184Met)
10g.86716628G>ACA470375888LDB3n.515-2099G>A
c.1344G>A (p.Lys448=)
c.1392G>A (p.Lys464=)
c.1533G>A (p.Lys511=)
c.1203G>A (p.Lys401=)
c.1548G>A (p.Lys516=)
c.1785G>A (p.Lys595=)
c.1737G>A (p.Lys579=)
c.1596G>A (p.Lys532=)
c.1581G>A (p.Lys527=)
c.1440G>A (p.Lys480=)
c.1251G>A (p.Lys417=)
c.1236G>A (p.Lys412=)
c.741G>A (p.Lys247=)
c.552G>A (p.Lys184=)
10g.86716628G>CCA377451198LDB3n.515-2099G>C
c.1344G>C (p.Lys448Asn)
c.1392G>C (p.Lys464Asn)
c.1533G>C (p.Lys511Asn)
c.1203G>C (p.Lys401Asn)
c.1548G>C (p.Lys516Asn)
c.1785G>C (p.Lys595Asn)
c.1737G>C (p.Lys579Asn)
c.1596G>C (p.Lys532Asn)
c.1581G>C (p.Lys527Asn)
c.1440G>C (p.Lys480Asn)
c.1251G>C (p.Lys417Asn)
c.1236G>C (p.Lys412Asn)
c.741G>C (p.Lys247Asn)
c.552G>C (p.Lys184Asn)
10g.86716628G>TCA377451199LDB3n.515-2099G>T
c.1344G>T (p.Lys448Asn)
c.1392G>T (p.Lys464Asn)
c.1533G>T (p.Lys511Asn)
c.1203G>T (p.Lys401Asn)
c.1548G>T (p.Lys516Asn)
c.1785G>T (p.Lys595Asn)
c.1737G>T (p.Lys579Asn)
c.1596G>T (p.Lys532Asn)
c.1581G>T (p.Lys527Asn)
c.1440G>T (p.Lys480Asn)
c.1251G>T (p.Lys417Asn)
c.1236G>T (p.Lys412Asn)
c.741G>T (p.Lys247Asn)
c.552G>T (p.Lys184Asn)
10g.86716629C>ACA377451200LDB3n.515-2098C>A
c.1345C>A (p.Gln449Lys)
c.1393C>A (p.Gln465Lys)
c.1534C>A (p.Gln512Lys)
c.1204C>A (p.Gln402Lys)
c.1549C>A (p.Gln517Lys)
c.1786C>A (p.Gln596Lys)
c.1738C>A (p.Gln580Lys)
c.1597C>A (p.Gln533Lys)
c.1582C>A (p.Gln528Lys)
c.1441C>A (p.Gln481Lys)
c.1252C>A (p.Gln418Lys)
c.1237C>A (p.Gln413Lys)
c.742C>A (p.Gln248Lys)
c.553C>A (p.Gln185Lys)
10g.86716629C>GCA377451201LDB3n.515-2098C>G
c.1345C>G (p.Gln449Glu)
c.1393C>G (p.Gln465Glu)
c.1534C>G (p.Gln512Glu)
c.1204C>G (p.Gln402Glu)
c.1549C>G (p.Gln517Glu)
c.1786C>G (p.Gln596Glu)
c.1738C>G (p.Gln580Glu)
c.1597C>G (p.Gln533Glu)
c.1582C>G (p.Gln528Glu)
c.1441C>G (p.Gln481Glu)
c.1252C>G (p.Gln418Glu)
c.1237C>G (p.Gln413Glu)
c.742C>G (p.Gln248Glu)
c.553C>G (p.Gln185Glu)
10g.86716629C>TCA377451203LDB3n.515-2098C>T
c.1345C>T (p.Gln449Ter)
c.1393C>T (p.Gln465Ter)
c.1534C>T (p.Gln512Ter)
c.1204C>T (p.Gln402Ter)
c.1549C>T (p.Gln517Ter)
c.1786C>T (p.Gln596Ter)
c.1738C>T (p.Gln580Ter)
c.1597C>T (p.Gln533Ter)
c.1582C>T (p.Gln528Ter)
c.1441C>T (p.Gln481Ter)
c.1252C>T (p.Gln418Ter)
c.1237C>T (p.Gln413Ter)
c.742C>T (p.Gln248Ter)
c.553C>T (p.Gln185Ter)
 gnomAD v4
10g.86716630A=CA1925631964LDB3n.515-2097A=
c.1346A= (p.Gln449=)
c.1394A= (p.Gln465=)
c.1535A= (p.Gln512=)
c.1205A= (p.Gln402=)
c.1550A= (p.Gln517=)
c.1787A= (p.Gln596=)
c.1739A= (p.Gln580=)
c.1598A= (p.Gln533=)
c.1583A= (p.Gln528=)
c.1442A= (p.Gln481=)
c.1253A= (p.Gln418=)
c.1238A= (p.Gln413=)
c.743A= (p.Gln248=)
c.554A= (p.Gln185=)
10g.86716630A>CCA136539LDB3n.515-2097A>C
c.1346A>C (p.Gln449Pro)
c.1394A>C (p.Gln465Pro)
c.1535A>C (p.Gln512Pro)
c.1205A>C (p.Gln402Pro)
c.1550A>C (p.Gln517Pro)
c.1787A>C (p.Gln596Pro)
c.1739A>C (p.Gln580Pro)
c.1598A>C (p.Gln533Pro)
c.1583A>C (p.Gln528Pro)
c.1442A>C (p.Gln481Pro)
c.1253A>C (p.Gln418Pro)
c.1238A>C (p.Gln413Pro)
c.743A>C (p.Gln248Pro)
c.554A>C (p.Gln185Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716630A>GCA211205527LDB3n.515-2097A>G
c.1346A>G (p.Gln449Arg)
c.1394A>G (p.Gln465Arg)
c.1535A>G (p.Gln512Arg)
c.1205A>G (p.Gln402Arg)
c.1550A>G (p.Gln517Arg)
c.1787A>G (p.Gln596Arg)
c.1739A>G (p.Gln580Arg)
c.1598A>G (p.Gln533Arg)
c.1583A>G (p.Gln528Arg)
c.1442A>G (p.Gln481Arg)
c.1253A>G (p.Gln418Arg)
c.1238A>G (p.Gln413Arg)
c.743A>G (p.Gln248Arg)
c.554A>G (p.Gln185Arg)
 ClinVar dbSNP gnomAD v4
10g.86716630A>TCA377451208LDB3n.515-2097A>T
c.1346A>T (p.Gln449Leu)
c.1394A>T (p.Gln465Leu)
c.1535A>T (p.Gln512Leu)
c.1205A>T (p.Gln402Leu)
c.1550A>T (p.Gln517Leu)
c.1787A>T (p.Gln596Leu)
c.1739A>T (p.Gln580Leu)
c.1598A>T (p.Gln533Leu)
c.1583A>T (p.Gln528Leu)
c.1442A>T (p.Gln481Leu)
c.1253A>T (p.Gln418Leu)
c.1238A>T (p.Gln413Leu)
c.743A>T (p.Gln248Leu)
c.554A>T (p.Gln185Leu)
10g.86716631G>ACA470375907LDB3n.515-2096G>A
c.1347G>A (p.Gln449=)
c.1395G>A (p.Gln465=)
c.1536G>A (p.Gln512=)
c.1206G>A (p.Gln402=)
c.1551G>A (p.Gln517=)
c.1788G>A (p.Gln596=)
c.1740G>A (p.Gln580=)
c.1599G>A (p.Gln533=)
c.1584G>A (p.Gln528=)
c.1443G>A (p.Gln481=)
c.1254G>A (p.Gln418=)
c.1239G>A (p.Gln413=)
c.744G>A (p.Gln248=)
c.555G>A (p.Gln185=)
10g.86716631G>CCA377451210LDB3n.515-2096G>C
c.1347G>C (p.Gln449His)
c.1395G>C (p.Gln465His)
c.1536G>C (p.Gln512His)
c.1206G>C (p.Gln402His)
c.1551G>C (p.Gln517His)
c.1788G>C (p.Gln596His)
c.1740G>C (p.Gln580His)
c.1599G>C (p.Gln533His)
c.1584G>C (p.Gln528His)
c.1443G>C (p.Gln481His)
c.1254G>C (p.Gln418His)
c.1239G>C (p.Gln413His)
c.744G>C (p.Gln248His)
c.555G>C (p.Gln185His)
10g.86716631G>TCA377451211LDB3n.515-2096G>T
c.1347G>T (p.Gln449His)
c.1395G>T (p.Gln465His)
c.1536G>T (p.Gln512His)
c.1206G>T (p.Gln402His)
c.1551G>T (p.Gln517His)
c.1788G>T (p.Gln596His)
c.1740G>T (p.Gln580His)
c.1599G>T (p.Gln533His)
c.1584G>T (p.Gln528His)
c.1443G>T (p.Gln481His)
c.1254G>T (p.Gln418His)
c.1239G>T (p.Gln413His)
c.744G>T (p.Gln248His)
c.555G>T (p.Gln185His)
10g.86716632A=CA1925631965LDB3n.515-2095A=
c.1348A= (p.Thr450=)
c.1396A= (p.Thr466=)
c.1537A= (p.Thr513=)
c.1207A= (p.Thr403=)
c.1552A= (p.Thr518=)
c.1789A= (p.Thr597=)
c.1741A= (p.Thr581=)
c.1600A= (p.Thr534=)
c.1585A= (p.Thr529=)
c.1444A= (p.Thr482=)
c.1255A= (p.Thr419=)
c.1240A= (p.Thr414=)
c.745A= (p.Thr249=)
c.556A= (p.Thr186=)
10g.86716632A>CCA377451212LDB3n.515-2095A>C
c.1348A>C (p.Thr450Pro)
c.1396A>C (p.Thr466Pro)
c.1537A>C (p.Thr513Pro)
c.1207A>C (p.Thr403Pro)
c.1552A>C (p.Thr518Pro)
c.1789A>C (p.Thr597Pro)
c.1741A>C (p.Thr581Pro)
c.1600A>C (p.Thr534Pro)
c.1585A>C (p.Thr529Pro)
c.1444A>C (p.Thr482Pro)
c.1255A>C (p.Thr419Pro)
c.1240A>C (p.Thr414Pro)
c.745A>C (p.Thr249Pro)
c.556A>C (p.Thr186Pro)
10g.86716632A>GCA5585179LDB3n.515-2095A>G
c.1348A>G (p.Thr450Ala)
c.1396A>G (p.Thr466Ala)
c.1537A>G (p.Thr513Ala)
c.1207A>G (p.Thr403Ala)
c.1552A>G (p.Thr518Ala)
c.1789A>G (p.Thr597Ala)
c.1741A>G (p.Thr581Ala)
c.1600A>G (p.Thr534Ala)
c.1585A>G (p.Thr529Ala)
c.1444A>G (p.Thr482Ala)
c.1255A>G (p.Thr419Ala)
c.1240A>G (p.Thr414Ala)
c.745A>G (p.Thr249Ala)
c.556A>G (p.Thr186Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716632A>TCA377451213LDB3n.515-2095A>T
c.1348A>T (p.Thr450Ser)
c.1396A>T (p.Thr466Ser)
c.1537A>T (p.Thr513Ser)
c.1207A>T (p.Thr403Ser)
c.1552A>T (p.Thr518Ser)
c.1789A>T (p.Thr597Ser)
c.1741A>T (p.Thr581Ser)
c.1600A>T (p.Thr534Ser)
c.1585A>T (p.Thr529Ser)
c.1444A>T (p.Thr482Ser)
c.1255A>T (p.Thr419Ser)
c.1240A>T (p.Thr414Ser)
c.745A>T (p.Thr249Ser)
c.556A>T (p.Thr186Ser)
10g.86716633C>ACA5585180LDB3n.515-2094C>A
c.1349C>A (p.Thr450Asn)
c.1397C>A (p.Thr466Asn)
c.1538C>A (p.Thr513Asn)
c.1208C>A (p.Thr403Asn)
c.1553C>A (p.Thr518Asn)
c.1790C>A (p.Thr597Asn)
c.1742C>A (p.Thr581Asn)
c.1601C>A (p.Thr534Asn)
c.1586C>A (p.Thr529Asn)
c.1445C>A (p.Thr482Asn)
c.1256C>A (p.Thr419Asn)
c.1241C>A (p.Thr414Asn)
c.746C>A (p.Thr249Asn)
c.557C>A (p.Thr186Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716633C=CA1925631966LDB3n.515-2094C=
c.1349C= (p.Thr450=)
c.1397C= (p.Thr466=)
c.1538C= (p.Thr513=)
c.1208C= (p.Thr403=)
c.1553C= (p.Thr518=)
c.1790C= (p.Thr597=)
c.1742C= (p.Thr581=)
c.1601C= (p.Thr534=)
c.1586C= (p.Thr529=)
c.1445C= (p.Thr482=)
c.1256C= (p.Thr419=)
c.1241C= (p.Thr414=)
c.746C= (p.Thr249=)
c.557C= (p.Thr186=)
10g.86716633C>GCA377451216LDB3n.515-2094C>G
c.1349C>G (p.Thr450Ser)
c.1397C>G (p.Thr466Ser)
c.1538C>G (p.Thr513Ser)
c.1208C>G (p.Thr403Ser)
c.1553C>G (p.Thr518Ser)
c.1790C>G (p.Thr597Ser)
c.1742C>G (p.Thr581Ser)
c.1601C>G (p.Thr534Ser)
c.1586C>G (p.Thr529Ser)
c.1445C>G (p.Thr482Ser)
c.1256C>G (p.Thr419Ser)
c.1241C>G (p.Thr414Ser)
c.746C>G (p.Thr249Ser)
c.557C>G (p.Thr186Ser)
10g.86716633C>TCA377451219LDB3n.515-2094C>T
c.1349C>T (p.Thr450Ile)
c.1397C>T (p.Thr466Ile)
c.1538C>T (p.Thr513Ile)
c.1208C>T (p.Thr403Ile)
c.1553C>T (p.Thr518Ile)
c.1790C>T (p.Thr597Ile)
c.1742C>T (p.Thr581Ile)
c.1601C>T (p.Thr534Ile)
c.1586C>T (p.Thr529Ile)
c.1445C>T (p.Thr482Ile)
c.1256C>T (p.Thr419Ile)
c.1241C>T (p.Thr414Ile)
c.746C>T (p.Thr249Ile)
c.557C>T (p.Thr186Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716634C>ACA470375925LDB3n.515-2093C>A
c.1350C>A (p.Thr450=)
c.1398C>A (p.Thr466=)
c.1539C>A (p.Thr513=)
c.1209C>A (p.Thr403=)
c.1554C>A (p.Thr518=)
c.1791C>A (p.Thr597=)
c.1743C>A (p.Thr581=)
c.1602C>A (p.Thr534=)
c.1587C>A (p.Thr529=)
c.1446C>A (p.Thr482=)
c.1257C>A (p.Thr419=)
c.1242C>A (p.Thr414=)
c.747C>A (p.Thr249=)
c.558C>A (p.Thr186=)
10g.86716634C=CA1925631967LDB3n.515-2093C=
c.1350C= (p.Thr450=)
c.1398C= (p.Thr466=)
c.1539C= (p.Thr513=)
c.1209C= (p.Thr403=)
c.1554C= (p.Thr518=)
c.1791C= (p.Thr597=)
c.1743C= (p.Thr581=)
c.1602C= (p.Thr534=)
c.1587C= (p.Thr529=)
c.1446C= (p.Thr482=)
c.1257C= (p.Thr419=)
c.1242C= (p.Thr414=)
c.747C= (p.Thr249=)
c.558C= (p.Thr186=)
10g.86716634C>GCA470375928LDB3n.515-2093C>G
c.1350C>G (p.Thr450=)
c.1398C>G (p.Thr466=)
c.1539C>G (p.Thr513=)
c.1209C>G (p.Thr403=)
c.1554C>G (p.Thr518=)
c.1791C>G (p.Thr597=)
c.1743C>G (p.Thr581=)
c.1602C>G (p.Thr534=)
c.1587C>G (p.Thr529=)
c.1446C>G (p.Thr482=)
c.1257C>G (p.Thr419=)
c.1242C>G (p.Thr414=)
c.747C>G (p.Thr249=)
c.558C>G (p.Thr186=)
 ClinVar dbSNP gnomAD v4
10g.86716634C>TCA470375930LDB3n.515-2093C>T
c.1350C>T (p.Thr450=)
c.1398C>T (p.Thr466=)
c.1539C>T (p.Thr513=)
c.1209C>T (p.Thr403=)
c.1554C>T (p.Thr518=)
c.1791C>T (p.Thr597=)
c.1743C>T (p.Thr581=)
c.1602C>T (p.Thr534=)
c.1587C>T (p.Thr529=)
c.1446C>T (p.Thr482=)
c.1257C>T (p.Thr419=)
c.1242C>T (p.Thr414=)
c.747C>T (p.Thr249=)
c.558C>T (p.Thr186=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716635C>ACA377451220LDB3n.515-2092C>A
c.1351C>A (p.Leu451Met)
c.1399C>A (p.Leu467Met)
c.1540C>A (p.Leu514Met)
c.1210C>A (p.Leu404Met)
c.1555C>A (p.Leu519Met)
c.1792C>A (p.Leu598Met)
c.1744C>A (p.Leu582Met)
c.1603C>A (p.Leu535Met)
c.1588C>A (p.Leu530Met)
c.1447C>A (p.Leu483Met)
c.1258C>A (p.Leu420Met)
c.1243C>A (p.Leu415Met)
c.748C>A (p.Leu250Met)
c.559C>A (p.Leu187Met)
10g.86716635C=CA1925631968LDB3n.515-2092C=
c.1351C= (p.Leu451=)
c.1399C= (p.Leu467=)
c.1540C= (p.Leu514=)
c.1210C= (p.Leu404=)
c.1555C= (p.Leu519=)
c.1792C= (p.Leu598=)
c.1744C= (p.Leu582=)
c.1603C= (p.Leu535=)
c.1588C= (p.Leu530=)
c.1447C= (p.Leu483=)
c.1258C= (p.Leu420=)
c.1243C= (p.Leu415=)
c.748C= (p.Leu250=)
c.559C= (p.Leu187=)
10g.86716635C>GCA5585181LDB3n.515-2092C>G
c.1351C>G (p.Leu451Val)
c.1399C>G (p.Leu467Val)
c.1540C>G (p.Leu514Val)
c.1210C>G (p.Leu404Val)
c.1555C>G (p.Leu519Val)
c.1792C>G (p.Leu598Val)
c.1744C>G (p.Leu582Val)
c.1603C>G (p.Leu535Val)
c.1588C>G (p.Leu530Val)
c.1447C>G (p.Leu483Val)
c.1258C>G (p.Leu420Val)
c.1243C>G (p.Leu415Val)
c.748C>G (p.Leu250Val)
c.559C>G (p.Leu187Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716635C>TCA470375933LDB3n.515-2092C>T
c.1351C>T (p.Leu451=)
c.1399C>T (p.Leu467=)
c.1540C>T (p.Leu514=)
c.1210C>T (p.Leu404=)
c.1555C>T (p.Leu519=)
c.1792C>T (p.Leu598=)
c.1744C>T (p.Leu582=)
c.1603C>T (p.Leu535=)
c.1588C>T (p.Leu530=)
c.1447C>T (p.Leu483=)
c.1258C>T (p.Leu420=)
c.1243C>T (p.Leu415=)
c.748C>T (p.Leu250=)
c.559C>T (p.Leu187=)
 COSMIC COSMIC COSMIC
10g.86716636T>ACA377451222LDB3n.515-2091T>A
c.1352T>A (p.Leu451Gln)
c.1400T>A (p.Leu467Gln)
c.1541T>A (p.Leu514Gln)
c.1211T>A (p.Leu404Gln)
c.1556T>A (p.Leu519Gln)
c.1793T>A (p.Leu598Gln)
c.1745T>A (p.Leu582Gln)
c.1604T>A (p.Leu535Gln)
c.1589T>A (p.Leu530Gln)
c.1448T>A (p.Leu483Gln)
c.1259T>A (p.Leu420Gln)
c.1244T>A (p.Leu415Gln)
c.749T>A (p.Leu250Gln)
c.560T>A (p.Leu187Gln)
10g.86716636T>CCA377451224LDB3n.515-2091T>C
c.1352T>C (p.Leu451Pro)
c.1400T>C (p.Leu467Pro)
c.1541T>C (p.Leu514Pro)
c.1211T>C (p.Leu404Pro)
c.1556T>C (p.Leu519Pro)
c.1793T>C (p.Leu598Pro)
c.1745T>C (p.Leu582Pro)
c.1604T>C (p.Leu535Pro)
c.1589T>C (p.Leu530Pro)
c.1448T>C (p.Leu483Pro)
c.1259T>C (p.Leu420Pro)
c.1244T>C (p.Leu415Pro)
c.749T>C (p.Leu250Pro)
c.560T>C (p.Leu187Pro)
10g.86716636T>GCA377451226LDB3n.515-2091T>G
c.1352T>G (p.Leu451Arg)
c.1400T>G (p.Leu467Arg)
c.1541T>G (p.Leu514Arg)
c.1211T>G (p.Leu404Arg)
c.1556T>G (p.Leu519Arg)
c.1793T>G (p.Leu598Arg)
c.1745T>G (p.Leu582Arg)
c.1604T>G (p.Leu535Arg)
c.1589T>G (p.Leu530Arg)
c.1448T>G (p.Leu483Arg)
c.1259T>G (p.Leu420Arg)
c.1244T>G (p.Leu415Arg)
c.749T>G (p.Leu250Arg)
c.560T>G (p.Leu187Arg)
10g.86716637G>ACA470375944LDB3n.515-2090G>A
c.1353G>A (p.Leu451=)
c.1401G>A (p.Leu467=)
c.1542G>A (p.Leu514=)
c.1212G>A (p.Leu404=)
c.1557G>A (p.Leu519=)
c.1794G>A (p.Leu598=)
c.1746G>A (p.Leu582=)
c.1605G>A (p.Leu535=)
c.1590G>A (p.Leu530=)
c.1449G>A (p.Leu483=)
c.1260G>A (p.Leu420=)
c.1245G>A (p.Leu415=)
c.750G>A (p.Leu250=)
c.561G>A (p.Leu187=)
 gnomAD v4
10g.86716637G>CCA470375946LDB3n.515-2090G>C
c.1353G>C (p.Leu451=)
c.1401G>C (p.Leu467=)
c.1542G>C (p.Leu514=)
c.1212G>C (p.Leu404=)
c.1557G>C (p.Leu519=)
c.1794G>C (p.Leu598=)
c.1746G>C (p.Leu582=)
c.1605G>C (p.Leu535=)
c.1590G>C (p.Leu530=)
c.1449G>C (p.Leu483=)
c.1260G>C (p.Leu420=)
c.1245G>C (p.Leu415=)
c.750G>C (p.Leu250=)
c.561G>C (p.Leu187=)
10g.86716637G=CA1925631969LDB3n.515-2090G=
c.1353G= (p.Leu451=)
c.1401G= (p.Leu467=)
c.1542G= (p.Leu514=)
c.1212G= (p.Leu404=)
c.1557G= (p.Leu519=)
c.1794G= (p.Leu598=)
c.1746G= (p.Leu582=)
c.1605G= (p.Leu535=)
c.1590G= (p.Leu530=)
c.1449G= (p.Leu483=)
c.1260G= (p.Leu420=)
c.1245G= (p.Leu415=)
c.750G= (p.Leu250=)
c.561G= (p.Leu187=)
10g.86716637G>TCA470375949LDB3n.515-2090G>T
c.1353G>T (p.Leu451=)
c.1401G>T (p.Leu467=)
c.1542G>T (p.Leu514=)
c.1212G>T (p.Leu404=)
c.1557G>T (p.Leu519=)
c.1794G>T (p.Leu598=)
c.1746G>T (p.Leu582=)
c.1605G>T (p.Leu535=)
c.1590G>T (p.Leu530=)
c.1449G>T (p.Leu483=)
c.1260G>T (p.Leu420=)
c.1245G>T (p.Leu415=)
c.750G>T (p.Leu250=)
c.561G>T (p.Leu187=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716638C>ACA377451232LDB3n.515-2089C>A
c.1354C>A (p.Pro452Thr)
c.1402C>A (p.Pro468Thr)
c.1543C>A (p.Pro515Thr)
c.1213C>A (p.Pro405Thr)
c.1558C>A (p.Pro520Thr)
c.1795C>A (p.Pro599Thr)
c.1747C>A (p.Pro583Thr)
c.1606C>A (p.Pro536Thr)
c.1591C>A (p.Pro531Thr)
c.1450C>A (p.Pro484Thr)
c.1261C>A (p.Pro421Thr)
c.1246C>A (p.Pro416Thr)
c.751C>A (p.Pro251Thr)
c.562C>A (p.Pro188Thr)
10g.86716638C=CA1925631970LDB3n.515-2089C=
c.1354C= (p.Pro452=)
c.1402C= (p.Pro468=)
c.1543C= (p.Pro515=)
c.1213C= (p.Pro405=)
c.1558C= (p.Pro520=)
c.1795C= (p.Pro599=)
c.1747C= (p.Pro583=)
c.1606C= (p.Pro536=)
c.1591C= (p.Pro531=)
c.1450C= (p.Pro484=)
c.1261C= (p.Pro421=)
c.1246C= (p.Pro416=)
c.751C= (p.Pro251=)
c.562C= (p.Pro188=)
10g.86716638C>GCA377451230LDB3n.515-2089C>G
c.1354C>G (p.Pro452Ala)
c.1402C>G (p.Pro468Ala)
c.1543C>G (p.Pro515Ala)
c.1213C>G (p.Pro405Ala)
c.1558C>G (p.Pro520Ala)
c.1795C>G (p.Pro599Ala)
c.1747C>G (p.Pro583Ala)
c.1606C>G (p.Pro536Ala)
c.1591C>G (p.Pro531Ala)
c.1450C>G (p.Pro484Ala)
c.1261C>G (p.Pro421Ala)
c.1246C>G (p.Pro416Ala)
c.751C>G (p.Pro251Ala)
c.562C>G (p.Pro188Ala)
10g.86716638C>TCA377451228LDB3n.515-2089C>T
c.1354C>T (p.Pro452Ser)
c.1402C>T (p.Pro468Ser)
c.1543C>T (p.Pro515Ser)
c.1213C>T (p.Pro405Ser)
c.1558C>T (p.Pro520Ser)
c.1795C>T (p.Pro599Ser)
c.1747C>T (p.Pro583Ser)
c.1606C>T (p.Pro536Ser)
c.1591C>T (p.Pro531Ser)
c.1450C>T (p.Pro484Ser)
c.1261C>T (p.Pro421Ser)
c.1246C>T (p.Pro416Ser)
c.751C>T (p.Pro251Ser)
c.562C>T (p.Pro188Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716641delCA2609997616LDB3n.515-2086del
c.1357del (p.Arg453GlyfsTer?)
c.1405del (p.Arg469GlyfsTer?)
c.1546del (p.Arg516GlyfsTer?)
c.1216del (p.Arg406GlyfsTer?)
c.1561del (p.Arg521GlyfsTer?)
c.1798del (p.Arg600GlyfsTer?)
c.1750del (p.Arg584GlyfsTer?)
c.1609del (p.Arg537GlyfsTer?)
c.1594del (p.Arg532GlyfsTer?)
c.1453del (p.Arg485GlyfsTer?)
c.1264del (p.Arg422GlyfsTer?)
c.1249del (p.Arg417GlyfsTer?)
c.754del (p.Arg252GlyfsTer?)
c.565del (p.Arg189GlyfsTer?)
 gnomAD v4
10g.86716639C>ACA377451234LDB3n.515-2088C>A
c.1355C>A (p.Pro452His)
c.1403C>A (p.Pro468His)
c.1544C>A (p.Pro515His)
c.1214C>A (p.Pro405His)
c.1559C>A (p.Pro520His)
c.1796C>A (p.Pro599His)
c.1748C>A (p.Pro583His)
c.1607C>A (p.Pro536His)
c.1592C>A (p.Pro531His)
c.1451C>A (p.Pro484His)
c.1262C>A (p.Pro421His)
c.1247C>A (p.Pro416His)
c.752C>A (p.Pro251His)
c.563C>A (p.Pro188His)
10g.86716639C>GCA377451236LDB3n.515-2088C>G
c.1355C>G (p.Pro452Arg)
c.1403C>G (p.Pro468Arg)
c.1544C>G (p.Pro515Arg)
c.1214C>G (p.Pro405Arg)
c.1559C>G (p.Pro520Arg)
c.1796C>G (p.Pro599Arg)
c.1748C>G (p.Pro583Arg)
c.1607C>G (p.Pro536Arg)
c.1592C>G (p.Pro531Arg)
c.1451C>G (p.Pro484Arg)
c.1262C>G (p.Pro421Arg)
c.1247C>G (p.Pro416Arg)
c.752C>G (p.Pro251Arg)
c.563C>G (p.Pro188Arg)
 gnomAD v4
10g.86716639C>TCA377451238LDB3n.515-2088C>T
c.1355C>T (p.Pro452Leu)
c.1403C>T (p.Pro468Leu)
c.1544C>T (p.Pro515Leu)
c.1214C>T (p.Pro405Leu)
c.1559C>T (p.Pro520Leu)
c.1796C>T (p.Pro599Leu)
c.1748C>T (p.Pro583Leu)
c.1607C>T (p.Pro536Leu)
c.1592C>T (p.Pro531Leu)
c.1451C>T (p.Pro484Leu)
c.1262C>T (p.Pro421Leu)
c.1247C>T (p.Pro416Leu)
c.752C>T (p.Pro251Leu)
c.563C>T (p.Pro188Leu)
 ClinVar gnomAD v4
10g.86716640C>ACA470375966LDB3n.515-2087C>A
c.1356C>A (p.Pro452=)
c.1404C>A (p.Pro468=)
c.1545C>A (p.Pro515=)
c.1215C>A (p.Pro405=)
c.1560C>A (p.Pro520=)
c.1797C>A (p.Pro599=)
c.1749C>A (p.Pro583=)
c.1608C>A (p.Pro536=)
c.1593C>A (p.Pro531=)
c.1452C>A (p.Pro484=)
c.1263C>A (p.Pro421=)
c.1248C>A (p.Pro416=)
c.753C>A (p.Pro251=)
c.564C>A (p.Pro188=)
10g.86716640C>GCA470375962LDB3n.515-2087C>G
c.1356C>G (p.Pro452=)
c.1404C>G (p.Pro468=)
c.1545C>G (p.Pro515=)
c.1215C>G (p.Pro405=)
c.1560C>G (p.Pro520=)
c.1797C>G (p.Pro599=)
c.1749C>G (p.Pro583=)
c.1608C>G (p.Pro536=)
c.1593C>G (p.Pro531=)
c.1452C>G (p.Pro484=)
c.1263C>G (p.Pro421=)
c.1248C>G (p.Pro416=)
c.753C>G (p.Pro251=)
c.564C>G (p.Pro188=)
10g.86716640C>TCA470375964LDB3n.515-2087C>T
c.1356C>T (p.Pro452=)
c.1404C>T (p.Pro468=)
c.1545C>T (p.Pro515=)
c.1215C>T (p.Pro405=)
c.1560C>T (p.Pro520=)
c.1797C>T (p.Pro599=)
c.1749C>T (p.Pro583=)
c.1608C>T (p.Pro536=)
c.1593C>T (p.Pro531=)
c.1452C>T (p.Pro484=)
c.1263C>T (p.Pro421=)
c.1248C>T (p.Pro416=)
c.753C>T (p.Pro251=)
c.564C>T (p.Pro188=)
10g.86716641C>ACA470375970LDB3n.515-2086C>A
c.1357C>A (p.Arg453=)
c.1405C>A (p.Arg469=)
c.1546C>A (p.Arg516=)
c.1216C>A (p.Arg406=)
c.1561C>A (p.Arg521=)
c.1798C>A (p.Arg600=)
c.1750C>A (p.Arg584=)
c.1609C>A (p.Arg537=)
c.1594C>A (p.Arg532=)
c.1453C>A (p.Arg485=)
c.1264C>A (p.Arg422=)
c.1249C>A (p.Arg417=)
c.754C>A (p.Arg252=)
c.565C>A (p.Arg189=)
10g.86716641C=CA1925631971LDB3n.515-2086C=
c.1357C= (p.Arg453=)
c.1405C= (p.Arg469=)
c.1546C= (p.Arg516=)
c.1216C= (p.Arg406=)
c.1561C= (p.Arg521=)
c.1798C= (p.Arg600=)
c.1750C= (p.Arg584=)
c.1609C= (p.Arg537=)
c.1594C= (p.Arg532=)
c.1453C= (p.Arg485=)
c.1264C= (p.Arg422=)
c.1249C= (p.Arg417=)
c.754C= (p.Arg252=)
c.565C= (p.Arg189=)
10g.86716641C>GCA377451240LDB3n.515-2086C>G
c.1357C>G (p.Arg453Gly)
c.1405C>G (p.Arg469Gly)
c.1546C>G (p.Arg516Gly)
c.1216C>G (p.Arg406Gly)
c.1561C>G (p.Arg521Gly)
c.1798C>G (p.Arg600Gly)
c.1750C>G (p.Arg584Gly)
c.1609C>G (p.Arg537Gly)
c.1594C>G (p.Arg532Gly)
c.1453C>G (p.Arg485Gly)
c.1264C>G (p.Arg422Gly)
c.1249C>G (p.Arg417Gly)
c.754C>G (p.Arg252Gly)
c.565C>G (p.Arg189Gly)
10g.86716641C>TCA5585182LDB3n.515-2086C>T
c.1357C>T (p.Arg453Trp)
c.1405C>T (p.Arg469Trp)
c.1546C>T (p.Arg516Trp)
c.1216C>T (p.Arg406Trp)
c.1561C>T (p.Arg521Trp)
c.1798C>T (p.Arg600Trp)
c.1750C>T (p.Arg584Trp)
c.1609C>T (p.Arg537Trp)
c.1594C>T (p.Arg532Trp)
c.1453C>T (p.Arg485Trp)
c.1264C>T (p.Arg422Trp)
c.1249C>T (p.Arg417Trp)
c.754C>T (p.Arg252Trp)
c.565C>T (p.Arg189Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716642G>ACA5585183LDB3n.515-2085G>A
c.1358G>A (p.Arg453Gln)
c.1406G>A (p.Arg469Gln)
c.1547G>A (p.Arg516Gln)
c.1217G>A (p.Arg406Gln)
c.1562G>A (p.Arg521Gln)
c.1799G>A (p.Arg600Gln)
c.1751G>A (p.Arg584Gln)
c.1610G>A (p.Arg537Gln)
c.1595G>A (p.Arg532Gln)
c.1454G>A (p.Arg485Gln)
c.1265G>A (p.Arg422Gln)
c.1250G>A (p.Arg417Gln)
c.755G>A (p.Arg252Gln)
c.566G>A (p.Arg189Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716642G>CCA377451243LDB3n.515-2085G>C
c.1358G>C (p.Arg453Pro)
c.1406G>C (p.Arg469Pro)
c.1547G>C (p.Arg516Pro)
c.1217G>C (p.Arg406Pro)
c.1562G>C (p.Arg521Pro)
c.1799G>C (p.Arg600Pro)
c.1751G>C (p.Arg584Pro)
c.1610G>C (p.Arg537Pro)
c.1595G>C (p.Arg532Pro)
c.1454G>C (p.Arg485Pro)
c.1265G>C (p.Arg422Pro)
c.1250G>C (p.Arg417Pro)
c.755G>C (p.Arg252Pro)
c.566G>C (p.Arg189Pro)
10g.86716642G=CA1925631972LDB3n.515-2085G=
c.1358G= (p.Arg453=)
c.1406G= (p.Arg469=)
c.1547G= (p.Arg516=)
c.1217G= (p.Arg406=)
c.1562G= (p.Arg521=)
c.1799G= (p.Arg600=)
c.1751G= (p.Arg584=)
c.1610G= (p.Arg537=)
c.1595G= (p.Arg532=)
c.1454G= (p.Arg485=)
c.1265G= (p.Arg422=)
c.1250G= (p.Arg417=)
c.755G= (p.Arg252=)
c.566G= (p.Arg189=)
10g.86716642G>TCA5585184LDB3n.515-2085G>T
c.1358G>T (p.Arg453Leu)
c.1406G>T (p.Arg469Leu)
c.1547G>T (p.Arg516Leu)
c.1217G>T (p.Arg406Leu)
c.1562G>T (p.Arg521Leu)
c.1799G>T (p.Arg600Leu)
c.1751G>T (p.Arg584Leu)
c.1610G>T (p.Arg537Leu)
c.1595G>T (p.Arg532Leu)
c.1454G>T (p.Arg485Leu)
c.1265G>T (p.Arg422Leu)
c.1250G>T (p.Arg417Leu)
c.755G>T (p.Arg252Leu)
c.566G>T (p.Arg189Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716645delCA2609997617LDB3n.515-2082del
c.1361del (p.Gly454GlufsTer?)
c.1409del (p.Gly470GlufsTer?)
c.1550del (p.Gly517GlufsTer?)
c.1220del (p.Gly407GlufsTer?)
c.1565del (p.Gly522GlufsTer?)
c.1802del (p.Gly601GlufsTer?)
c.1754del (p.Gly585GlufsTer?)
c.1613del (p.Gly538GlufsTer?)
c.1598del (p.Gly533GlufsTer?)
c.1457del (p.Gly486GlufsTer?)
c.1268del (p.Gly423GlufsTer?)
c.1253del (p.Gly418GlufsTer?)
c.758del (p.Gly253GlufsTer?)
c.569del (p.Gly190GlufsTer?)
 gnomAD v4
10g.86716643G>ACA5585185LDB3n.515-2084G>A
c.1359G>A (p.Arg453=)
c.1407G>A (p.Arg469=)
c.1548G>A (p.Arg516=)
c.1218G>A (p.Arg406=)
c.1563G>A (p.Arg521=)
c.1800G>A (p.Arg600=)
c.1752G>A (p.Arg584=)
c.1611G>A (p.Arg537=)
c.1596G>A (p.Arg532=)
c.1455G>A (p.Arg485=)
c.1266G>A (p.Arg422=)
c.1251G>A (p.Arg417=)
c.756G>A (p.Arg252=)
c.567G>A (p.Arg189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716643G>CCA470375983LDB3n.515-2084G>C
c.1359G>C (p.Arg453=)
c.1407G>C (p.Arg469=)
c.1548G>C (p.Arg516=)
c.1218G>C (p.Arg406=)
c.1563G>C (p.Arg521=)
c.1800G>C (p.Arg600=)
c.1752G>C (p.Arg584=)
c.1611G>C (p.Arg537=)
c.1596G>C (p.Arg532=)
c.1455G>C (p.Arg485=)
c.1266G>C (p.Arg422=)
c.1251G>C (p.Arg417=)
c.756G>C (p.Arg252=)
c.567G>C (p.Arg189=)
10g.86716643G=CA1925631973LDB3n.515-2084G=
c.1359G= (p.Arg453=)
c.1407G= (p.Arg469=)
c.1548G= (p.Arg516=)
c.1218G= (p.Arg406=)
c.1563G= (p.Arg521=)
c.1800G= (p.Arg600=)
c.1752G= (p.Arg584=)
c.1611G= (p.Arg537=)
c.1596G= (p.Arg532=)
c.1455G= (p.Arg485=)
c.1266G= (p.Arg422=)
c.1251G= (p.Arg417=)
c.756G= (p.Arg252=)
c.567G= (p.Arg189=)
10g.86716643G>TCA470375985LDB3n.515-2084G>T
c.1359G>T (p.Arg453=)
c.1407G>T (p.Arg469=)
c.1548G>T (p.Arg516=)
c.1218G>T (p.Arg406=)
c.1563G>T (p.Arg521=)
c.1800G>T (p.Arg600=)
c.1752G>T (p.Arg584=)
c.1611G>T (p.Arg537=)
c.1596G>T (p.Arg532=)
c.1455G>T (p.Arg485=)
c.1266G>T (p.Arg422=)
c.1251G>T (p.Arg417=)
c.756G>T (p.Arg252=)
c.567G>T (p.Arg189=)
10g.86716644G>ACA377451248LDB3n.515-2083G>A
c.1360G>A (p.Gly454Arg)
c.1408G>A (p.Gly470Arg)
c.1549G>A (p.Gly517Arg)
c.1219G>A (p.Gly407Arg)
c.1564G>A (p.Gly522Arg)
c.1801G>A (p.Gly601Arg)
c.1753G>A (p.Gly585Arg)
c.1612G>A (p.Gly538Arg)
c.1597G>A (p.Gly533Arg)
c.1456G>A (p.Gly486Arg)
c.1267G>A (p.Gly423Arg)
c.1252G>A (p.Gly418Arg)
c.757G>A (p.Gly253Arg)
c.568G>A (p.Gly190Arg)
10g.86716644G>CCA377451250LDB3n.515-2083G>C
c.1360G>C (p.Gly454Arg)
c.1408G>C (p.Gly470Arg)
c.1549G>C (p.Gly517Arg)
c.1219G>C (p.Gly407Arg)
c.1564G>C (p.Gly522Arg)
c.1801G>C (p.Gly601Arg)
c.1753G>C (p.Gly585Arg)
c.1612G>C (p.Gly538Arg)
c.1597G>C (p.Gly533Arg)
c.1456G>C (p.Gly486Arg)
c.1267G>C (p.Gly423Arg)
c.1252G>C (p.Gly418Arg)
c.757G>C (p.Gly253Arg)
c.568G>C (p.Gly190Arg)
10g.86716644G=CA1925631974LDB3n.515-2083G=
c.1360G= (p.Gly454=)
c.1408G= (p.Gly470=)
c.1549G= (p.Gly517=)
c.1219G= (p.Gly407=)
c.1564G= (p.Gly522=)
c.1801G= (p.Gly601=)
c.1753G= (p.Gly585=)
c.1612G= (p.Gly538=)
c.1597G= (p.Gly533=)
c.1456G= (p.Gly486=)
c.1267G= (p.Gly423=)
c.1252G= (p.Gly418=)
c.757G= (p.Gly253=)
c.568G= (p.Gly190=)
10g.86716644G>TCA377451252LDB3n.515-2083G>T
c.1360G>T (p.Gly454Ter)
c.1408G>T (p.Gly470Ter)
c.1549G>T (p.Gly517Ter)
c.1219G>T (p.Gly407Ter)
c.1564G>T (p.Gly522Ter)
c.1801G>T (p.Gly601Ter)
c.1753G>T (p.Gly585Ter)
c.1612G>T (p.Gly538Ter)
c.1597G>T (p.Gly533Ter)
c.1456G>T (p.Gly486Ter)
c.1267G>T (p.Gly423Ter)
c.1252G>T (p.Gly418Ter)
c.757G>T (p.Gly253Ter)
c.568G>T (p.Gly190Ter)
10g.86716645G>ACA377451261LDB3n.515-2082G>A
c.1361G>A (p.Gly454Glu)
c.1409G>A (p.Gly470Glu)
c.1550G>A (p.Gly517Glu)
c.1220G>A (p.Gly407Glu)
c.1565G>A (p.Gly522Glu)
c.1802G>A (p.Gly601Glu)
c.1754G>A (p.Gly585Glu)
c.1613G>A (p.Gly538Glu)
c.1598G>A (p.Gly533Glu)
c.1457G>A (p.Gly486Glu)
c.1268G>A (p.Gly423Glu)
c.1253G>A (p.Gly418Glu)
c.758G>A (p.Gly253Glu)
c.569G>A (p.Gly190Glu)
10g.86716645G>CCA377451259LDB3n.515-2082G>C
c.1361G>C (p.Gly454Ala)
c.1409G>C (p.Gly470Ala)
c.1550G>C (p.Gly517Ala)
c.1220G>C (p.Gly407Ala)
c.1565G>C (p.Gly522Ala)
c.1802G>C (p.Gly601Ala)
c.1754G>C (p.Gly585Ala)
c.1613G>C (p.Gly538Ala)
c.1598G>C (p.Gly533Ala)
c.1457G>C (p.Gly486Ala)
c.1268G>C (p.Gly423Ala)
c.1253G>C (p.Gly418Ala)
c.758G>C (p.Gly253Ala)
c.569G>C (p.Gly190Ala)
10g.86716645G>TCA377451256LDB3n.515-2082G>T
c.1361G>T (p.Gly454Val)
c.1409G>T (p.Gly470Val)
c.1550G>T (p.Gly517Val)
c.1220G>T (p.Gly407Val)
c.1565G>T (p.Gly522Val)
c.1802G>T (p.Gly601Val)
c.1754G>T (p.Gly585Val)
c.1613G>T (p.Gly538Val)
c.1598G>T (p.Gly533Val)
c.1457G>T (p.Gly486Val)
c.1268G>T (p.Gly423Val)
c.1253G>T (p.Gly418Val)
c.758G>T (p.Gly253Val)
c.569G>T (p.Gly190Val)
10g.86716646_86716667dupCA930816424LDB3n.515-2081_515-2060dup
c.1362_1383dup (p.Gly462ArgfsTer23)
c.1410_1431dup (p.Gly478ArgfsTer23)
c.1551_1572dup (p.Gly525ArgfsTer23)
c.1221_1242dup (p.Gly415ArgfsTer23)
c.1566_1587dup (p.Gly530ArgfsTer23)
c.1803_1824dup (p.Gly609ArgfsTer23)
c.1755_1776dup (p.Gly593ArgfsTer23)
c.1614_1635dup (p.Gly546ArgfsTer23)
c.1599_1620dup (p.Gly541ArgfsTer23)
c.1458_1479dup (p.Gly494ArgfsTer23)
c.1269_1290dup (p.Gly431ArgfsTer23)
c.1254_1275dup (p.Gly426ArgfsTer23)
c.759_780dup (p.Gly261ArgfsTer23)
c.570_591dup (p.Gly198ArgfsTer23)
 dbSNP gnomAD v3 gnomAD v4
10g.86716646A>CCA470376002LDB3n.515-2081A>C
c.1362A>C (p.Gly454=)
c.1410A>C (p.Gly470=)
c.1551A>C (p.Gly517=)
c.1221A>C (p.Gly407=)
c.1566A>C (p.Gly522=)
c.1803A>C (p.Gly601=)
c.1755A>C (p.Gly585=)
c.1614A>C (p.Gly538=)
c.1599A>C (p.Gly533=)
c.1458A>C (p.Gly486=)
c.1269A>C (p.Gly423=)
c.1254A>C (p.Gly418=)
c.759A>C (p.Gly253=)
c.570A>C (p.Gly190=)
10g.86716646A>GCA470376006LDB3n.515-2081A>G
c.1362A>G (p.Gly454=)
c.1410A>G (p.Gly470=)
c.1551A>G (p.Gly517=)
c.1221A>G (p.Gly407=)
c.1566A>G (p.Gly522=)
c.1803A>G (p.Gly601=)
c.1755A>G (p.Gly585=)
c.1614A>G (p.Gly538=)
c.1599A>G (p.Gly533=)
c.1458A>G (p.Gly486=)
c.1269A>G (p.Gly423=)
c.1254A>G (p.Gly418=)
c.759A>G (p.Gly253=)
c.570A>G (p.Gly190=)
10g.86716646A>TCA470376004LDB3n.515-2081A>T
c.1362A>T (p.Gly454=)
c.1410A>T (p.Gly470=)
c.1551A>T (p.Gly517=)
c.1221A>T (p.Gly407=)
c.1566A>T (p.Gly522=)
c.1803A>T (p.Gly601=)
c.1755A>T (p.Gly585=)
c.1614A>T (p.Gly538=)
c.1599A>T (p.Gly533=)
c.1458A>T (p.Gly486=)
c.1269A>T (p.Gly423=)
c.1254A>T (p.Gly418=)
c.759A>T (p.Gly253=)
c.570A>T (p.Gly190=)
10g.86716647G>ACA377451263LDB3n.515-2080G>A
c.1363G>A (p.Gly455Ser)
c.1411G>A (p.Gly471Ser)
c.1552G>A (p.Gly518Ser)
c.1222G>A (p.Gly408Ser)
c.1567G>A (p.Gly523Ser)
c.1804G>A (p.Gly602Ser)
c.1756G>A (p.Gly586Ser)
c.1615G>A (p.Gly539Ser)
c.1600G>A (p.Gly534Ser)
c.1459G>A (p.Gly487Ser)
c.1270G>A (p.Gly424Ser)
c.1255G>A (p.Gly419Ser)
c.760G>A (p.Gly254Ser)
c.571G>A (p.Gly191Ser)
10g.86716647G>CCA377451265LDB3n.515-2080G>C
c.1363G>C (p.Gly455Arg)
c.1411G>C (p.Gly471Arg)
c.1552G>C (p.Gly518Arg)
c.1222G>C (p.Gly408Arg)
c.1567G>C (p.Gly523Arg)
c.1804G>C (p.Gly602Arg)
c.1756G>C (p.Gly586Arg)
c.1615G>C (p.Gly539Arg)
c.1600G>C (p.Gly534Arg)
c.1459G>C (p.Gly487Arg)
c.1270G>C (p.Gly424Arg)
c.1255G>C (p.Gly419Arg)
c.760G>C (p.Gly254Arg)
c.571G>C (p.Gly191Arg)
10g.86716647G>TCA377451266LDB3n.515-2080G>T
c.1363G>T (p.Gly455Cys)
c.1411G>T (p.Gly471Cys)
c.1552G>T (p.Gly518Cys)
c.1222G>T (p.Gly408Cys)
c.1567G>T (p.Gly523Cys)
c.1804G>T (p.Gly602Cys)
c.1756G>T (p.Gly586Cys)
c.1615G>T (p.Gly539Cys)
c.1600G>T (p.Gly534Cys)
c.1459G>T (p.Gly487Cys)
c.1270G>T (p.Gly424Cys)
c.1255G>T (p.Gly419Cys)
c.760G>T (p.Gly254Cys)
c.571G>T (p.Gly191Cys)
10g.86716648delCA2573332893LDB3n.515-2079del
c.1364del (p.Gly455AlafsTer?)
c.1412del (p.Gly471AlafsTer?)
c.1553del (p.Gly518AlafsTer?)
c.1223del (p.Gly408AlafsTer?)
c.1568del (p.Gly523AlafsTer?)
c.1805del (p.Gly602AlafsTer?)
c.1757del (p.Gly586AlafsTer?)
c.1616del (p.Gly539AlafsTer?)
c.1601del (p.Gly534AlafsTer?)
c.1460del (p.Gly487AlafsTer?)
c.1271del (p.Gly424AlafsTer?)
c.1256del (p.Gly419AlafsTer?)
c.761del (p.Gly254AlafsTer?)
c.572del (p.Gly191AlafsTer?)
10g.86716648G>ACA377451268LDB3n.515-2079G>A
c.1364G>A (p.Gly455Asp)
c.1412G>A (p.Gly471Asp)
c.1553G>A (p.Gly518Asp)
c.1223G>A (p.Gly408Asp)
c.1568G>A (p.Gly523Asp)
c.1805G>A (p.Gly602Asp)
c.1757G>A (p.Gly586Asp)
c.1616G>A (p.Gly539Asp)
c.1601G>A (p.Gly534Asp)
c.1460G>A (p.Gly487Asp)
c.1271G>A (p.Gly424Asp)
c.1256G>A (p.Gly419Asp)
c.761G>A (p.Gly254Asp)
c.572G>A (p.Gly191Asp)
 dbSNP
10g.86716648G>CCA377451269LDB3n.515-2079G>C
c.1364G>C (p.Gly455Ala)
c.1412G>C (p.Gly471Ala)
c.1553G>C (p.Gly518Ala)
c.1223G>C (p.Gly408Ala)
c.1568G>C (p.Gly523Ala)
c.1805G>C (p.Gly602Ala)
c.1757G>C (p.Gly586Ala)
c.1616G>C (p.Gly539Ala)
c.1601G>C (p.Gly534Ala)
c.1460G>C (p.Gly487Ala)
c.1271G>C (p.Gly424Ala)
c.1256G>C (p.Gly419Ala)
c.761G>C (p.Gly254Ala)
c.572G>C (p.Gly191Ala)
10g.86716648G=CA1925631975LDB3n.515-2079G=
c.1364G= (p.Gly455=)
c.1412G= (p.Gly471=)
c.1553G= (p.Gly518=)
c.1223G= (p.Gly408=)
c.1568G= (p.Gly523=)
c.1805G= (p.Gly602=)
c.1757G= (p.Gly586=)
c.1616G= (p.Gly539=)
c.1601G= (p.Gly534=)
c.1460G= (p.Gly487=)
c.1271G= (p.Gly424=)
c.1256G= (p.Gly419=)
c.761G= (p.Gly254=)
c.572G= (p.Gly191=)
10g.86716648G>TCA377451272LDB3n.515-2079G>T
c.1364G>T (p.Gly455Val)
c.1412G>T (p.Gly471Val)
c.1553G>T (p.Gly518Val)
c.1223G>T (p.Gly408Val)
c.1568G>T (p.Gly523Val)
c.1805G>T (p.Gly602Val)
c.1757G>T (p.Gly586Val)
c.1616G>T (p.Gly539Val)
c.1601G>T (p.Gly534Val)
c.1460G>T (p.Gly487Val)
c.1271G>T (p.Gly424Val)
c.1256G>T (p.Gly419Val)
c.761G>T (p.Gly254Val)
c.572G>T (p.Gly191Val)
 dbSNP
10g.86716649C>ACA470376027LDB3n.515-2078C>A
c.1365C>A (p.Gly455=)
c.1413C>A (p.Gly471=)
c.1554C>A (p.Gly518=)
c.1224C>A (p.Gly408=)
c.1569C>A (p.Gly523=)
c.1806C>A (p.Gly602=)
c.1758C>A (p.Gly586=)
c.1617C>A (p.Gly539=)
c.1602C>A (p.Gly534=)
c.1461C>A (p.Gly487=)
c.1272C>A (p.Gly424=)
c.1257C>A (p.Gly419=)
c.762C>A (p.Gly254=)
c.573C>A (p.Gly191=)
 gnomAD v4
10g.86716649C>GCA470376024LDB3n.515-2078C>G
c.1365C>G (p.Gly455=)
c.1413C>G (p.Gly471=)
c.1554C>G (p.Gly518=)
c.1224C>G (p.Gly408=)
c.1569C>G (p.Gly523=)
c.1806C>G (p.Gly602=)
c.1758C>G (p.Gly586=)
c.1617C>G (p.Gly539=)
c.1602C>G (p.Gly534=)
c.1461C>G (p.Gly487=)
c.1272C>G (p.Gly424=)
c.1257C>G (p.Gly419=)
c.762C>G (p.Gly254=)
c.573C>G (p.Gly191=)
10g.86716649C>TCA470376022LDB3n.515-2078C>T
c.1365C>T (p.Gly455=)
c.1413C>T (p.Gly471=)
c.1554C>T (p.Gly518=)
c.1224C>T (p.Gly408=)
c.1569C>T (p.Gly523=)
c.1806C>T (p.Gly602=)
c.1758C>T (p.Gly586=)
c.1617C>T (p.Gly539=)
c.1602C>T (p.Gly534=)
c.1461C>T (p.Gly487=)
c.1272C>T (p.Gly424=)
c.1257C>T (p.Gly419=)
c.762C>T (p.Gly254=)
c.573C>T (p.Gly191=)
10g.86716650C>ACA377451279LDB3n.515-2077C>A
c.1366C>A (p.Pro456Thr)
c.1414C>A (p.Pro472Thr)
c.1555C>A (p.Pro519Thr)
c.1225C>A (p.Pro409Thr)
c.1570C>A (p.Pro524Thr)
c.1807C>A (p.Pro603Thr)
c.1759C>A (p.Pro587Thr)
c.1618C>A (p.Pro540Thr)
c.1603C>A (p.Pro535Thr)
c.1462C>A (p.Pro488Thr)
c.1273C>A (p.Pro425Thr)
c.1258C>A (p.Pro420Thr)
c.763C>A (p.Pro255Thr)
c.574C>A (p.Pro192Thr)
10g.86716650C>GCA377451282LDB3n.515-2077C>G
c.1366C>G (p.Pro456Ala)
c.1414C>G (p.Pro472Ala)
c.1555C>G (p.Pro519Ala)
c.1225C>G (p.Pro409Ala)
c.1570C>G (p.Pro524Ala)
c.1807C>G (p.Pro603Ala)
c.1759C>G (p.Pro587Ala)
c.1618C>G (p.Pro540Ala)
c.1603C>G (p.Pro535Ala)
c.1462C>G (p.Pro488Ala)
c.1273C>G (p.Pro425Ala)
c.1258C>G (p.Pro420Ala)
c.763C>G (p.Pro255Ala)
c.574C>G (p.Pro192Ala)
10g.86716650C>TCA377451285LDB3n.515-2077C>T
c.1366C>T (p.Pro456Ser)
c.1414C>T (p.Pro472Ser)
c.1555C>T (p.Pro519Ser)
c.1225C>T (p.Pro409Ser)
c.1570C>T (p.Pro524Ser)
c.1807C>T (p.Pro603Ser)
c.1759C>T (p.Pro587Ser)
c.1618C>T (p.Pro540Ser)
c.1603C>T (p.Pro535Ser)
c.1462C>T (p.Pro488Ser)
c.1273C>T (p.Pro425Ser)
c.1258C>T (p.Pro420Ser)
c.763C>T (p.Pro255Ser)
c.574C>T (p.Pro192Ser)
10g.86716651C>ACA377451287LDB3n.515-2076C>A
c.1367C>A (p.Pro456Gln)
c.1415C>A (p.Pro472Gln)
c.1556C>A (p.Pro519Gln)
c.1226C>A (p.Pro409Gln)
c.1571C>A (p.Pro524Gln)
c.1808C>A (p.Pro603Gln)
c.1760C>A (p.Pro587Gln)
c.1619C>A (p.Pro540Gln)
c.1604C>A (p.Pro535Gln)
c.1463C>A (p.Pro488Gln)
c.1274C>A (p.Pro425Gln)
c.1259C>A (p.Pro420Gln)
c.764C>A (p.Pro255Gln)
c.575C>A (p.Pro192Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716651C=CA1925631976LDB3n.515-2076C=
c.1367C= (p.Pro456=)
c.1415C= (p.Pro472=)
c.1556C= (p.Pro519=)
c.1226C= (p.Pro409=)
c.1571C= (p.Pro524=)
c.1808C= (p.Pro603=)
c.1760C= (p.Pro587=)
c.1619C= (p.Pro540=)
c.1604C= (p.Pro535=)
c.1463C= (p.Pro488=)
c.1274C= (p.Pro425=)
c.1259C= (p.Pro420=)
c.764C= (p.Pro255=)
c.575C= (p.Pro192=)
10g.86716651C>GCA377451288LDB3n.515-2076C>G
c.1367C>G (p.Pro456Arg)
c.1415C>G (p.Pro472Arg)
c.1556C>G (p.Pro519Arg)
c.1226C>G (p.Pro409Arg)
c.1571C>G (p.Pro524Arg)
c.1808C>G (p.Pro603Arg)
c.1760C>G (p.Pro587Arg)
c.1619C>G (p.Pro540Arg)
c.1604C>G (p.Pro535Arg)
c.1463C>G (p.Pro488Arg)
c.1274C>G (p.Pro425Arg)
c.1259C>G (p.Pro420Arg)
c.764C>G (p.Pro255Arg)
c.575C>G (p.Pro192Arg)
10g.86716651C>TCA377451290LDB3n.515-2076C>T
c.1367C>T (p.Pro456Leu)
c.1415C>T (p.Pro472Leu)
c.1556C>T (p.Pro519Leu)
c.1226C>T (p.Pro409Leu)
c.1571C>T (p.Pro524Leu)
c.1808C>T (p.Pro603Leu)
c.1760C>T (p.Pro587Leu)
c.1619C>T (p.Pro540Leu)
c.1604C>T (p.Pro535Leu)
c.1463C>T (p.Pro488Leu)
c.1274C>T (p.Pro425Leu)
c.1259C>T (p.Pro420Leu)
c.764C>T (p.Pro255Leu)
c.575C>T (p.Pro192Leu)
10g.86716652A>CCA470376037LDB3n.515-2075A>C
c.1368A>C (p.Pro456=)
c.1416A>C (p.Pro472=)
c.1557A>C (p.Pro519=)
c.1227A>C (p.Pro409=)
c.1572A>C (p.Pro524=)
c.1809A>C (p.Pro603=)
c.1761A>C (p.Pro587=)
c.1620A>C (p.Pro540=)
c.1605A>C (p.Pro535=)
c.1464A>C (p.Pro488=)
c.1275A>C (p.Pro425=)
c.1260A>C (p.Pro420=)
c.765A>C (p.Pro255=)
c.576A>C (p.Pro192=)
10g.86716652A>GCA470376042LDB3n.515-2075A>G
c.1368A>G (p.Pro456=)
c.1416A>G (p.Pro472=)
c.1557A>G (p.Pro519=)
c.1227A>G (p.Pro409=)
c.1572A>G (p.Pro524=)
c.1809A>G (p.Pro603=)
c.1761A>G (p.Pro587=)
c.1620A>G (p.Pro540=)
c.1605A>G (p.Pro535=)
c.1464A>G (p.Pro488=)
c.1275A>G (p.Pro425=)
c.1260A>G (p.Pro420=)
c.765A>G (p.Pro255=)
c.576A>G (p.Pro192=)
10g.86716652A>TCA470376040LDB3n.515-2075A>T
c.1368A>T (p.Pro456=)
c.1416A>T (p.Pro472=)
c.1557A>T (p.Pro519=)
c.1227A>T (p.Pro409=)
c.1572A>T (p.Pro524=)
c.1809A>T (p.Pro603=)
c.1761A>T (p.Pro587=)
c.1620A>T (p.Pro540=)
c.1605A>T (p.Pro535=)
c.1464A>T (p.Pro488=)
c.1275A>T (p.Pro425=)
c.1260A>T (p.Pro420=)
c.765A>T (p.Pro255=)
c.576A>T (p.Pro192=)
10g.86716653G>ACA211205555LDB3n.515-2074G>A
c.1369G>A (p.Ala457Thr)
c.1417G>A (p.Ala473Thr)
c.1558G>A (p.Ala520Thr)
c.1228G>A (p.Ala410Thr)
c.1573G>A (p.Ala525Thr)
c.1810G>A (p.Ala604Thr)
c.1762G>A (p.Ala588Thr)
c.1621G>A (p.Ala541Thr)
c.1606G>A (p.Ala536Thr)
c.1465G>A (p.Ala489Thr)
c.1276G>A (p.Ala426Thr)
c.1261G>A (p.Ala421Thr)
c.766G>A (p.Ala256Thr)
c.577G>A (p.Ala193Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.86716653G>CCA377451295LDB3n.515-2074G>C
c.1369G>C (p.Ala457Pro)
c.1417G>C (p.Ala473Pro)
c.1558G>C (p.Ala520Pro)
c.1228G>C (p.Ala410Pro)
c.1573G>C (p.Ala525Pro)
c.1810G>C (p.Ala604Pro)
c.1762G>C (p.Ala588Pro)
c.1621G>C (p.Ala541Pro)
c.1606G>C (p.Ala536Pro)
c.1465G>C (p.Ala489Pro)
c.1276G>C (p.Ala426Pro)
c.1261G>C (p.Ala421Pro)
c.766G>C (p.Ala256Pro)
c.577G>C (p.Ala193Pro)
 dbSNP gnomAD v4
10g.86716653G=CA1925631977LDB3n.515-2074G=
c.1369G= (p.Ala457=)
c.1417G= (p.Ala473=)
c.1558G= (p.Ala520=)
c.1228G= (p.Ala410=)
c.1573G= (p.Ala525=)
c.1810G= (p.Ala604=)
c.1762G= (p.Ala588=)
c.1621G= (p.Ala541=)
c.1606G= (p.Ala536=)
c.1465G= (p.Ala489=)
c.1276G= (p.Ala426=)
c.1261G= (p.Ala421=)
c.766G= (p.Ala256=)
c.577G= (p.Ala193=)
10g.86716653G>TCA377451293LDB3n.515-2074G>T
c.1369G>T (p.Ala457Ser)
c.1417G>T (p.Ala473Ser)
c.1558G>T (p.Ala520Ser)
c.1228G>T (p.Ala410Ser)
c.1573G>T (p.Ala525Ser)
c.1810G>T (p.Ala604Ser)
c.1762G>T (p.Ala588Ser)
c.1621G>T (p.Ala541Ser)
c.1606G>T (p.Ala536Ser)
c.1465G>T (p.Ala489Ser)
c.1276G>T (p.Ala426Ser)
c.1261G>T (p.Ala421Ser)
c.766G>T (p.Ala256Ser)
c.577G>T (p.Ala193Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.86716654C>ACA377451298LDB3n.515-2073C>A
c.1370C>A (p.Ala457Asp)
c.1418C>A (p.Ala473Asp)
c.1559C>A (p.Ala520Asp)
c.1229C>A (p.Ala410Asp)
c.1574C>A (p.Ala525Asp)
c.1811C>A (p.Ala604Asp)
c.1763C>A (p.Ala588Asp)
c.1622C>A (p.Ala541Asp)
c.1607C>A (p.Ala536Asp)
c.1466C>A (p.Ala489Asp)
c.1277C>A (p.Ala426Asp)
c.1262C>A (p.Ala421Asp)
c.767C>A (p.Ala256Asp)
c.578C>A (p.Ala193Asp)
10g.86716654C>GCA377451302LDB3n.515-2073C>G
c.1370C>G (p.Ala457Gly)
c.1418C>G (p.Ala473Gly)
c.1559C>G (p.Ala520Gly)
c.1229C>G (p.Ala410Gly)
c.1574C>G (p.Ala525Gly)
c.1811C>G (p.Ala604Gly)
c.1763C>G (p.Ala588Gly)
c.1622C>G (p.Ala541Gly)
c.1607C>G (p.Ala536Gly)
c.1466C>G (p.Ala489Gly)
c.1277C>G (p.Ala426Gly)
c.1262C>G (p.Ala421Gly)
c.767C>G (p.Ala256Gly)
c.578C>G (p.Ala193Gly)
10g.86716654C>TCA377451300LDB3n.515-2073C>T
c.1370C>T (p.Ala457Val)
c.1418C>T (p.Ala473Val)
c.1559C>T (p.Ala520Val)
c.1229C>T (p.Ala410Val)
c.1574C>T (p.Ala525Val)
c.1811C>T (p.Ala604Val)
c.1763C>T (p.Ala588Val)
c.1622C>T (p.Ala541Val)
c.1607C>T (p.Ala536Val)
c.1466C>T (p.Ala489Val)
c.1277C>T (p.Ala426Val)
c.1262C>T (p.Ala421Val)
c.767C>T (p.Ala256Val)
c.578C>T (p.Ala193Val)
 gnomAD v4
10g.86716655C>ACA470376058LDB3n.515-2072C>A
c.1371C>A (p.Ala457=)
c.1419C>A (p.Ala473=)
c.1560C>A (p.Ala520=)
c.1230C>A (p.Ala410=)
c.1575C>A (p.Ala525=)
c.1812C>A (p.Ala604=)
c.1764C>A (p.Ala588=)
c.1623C>A (p.Ala541=)
c.1608C>A (p.Ala536=)
c.1467C>A (p.Ala489=)
c.1278C>A (p.Ala426=)
c.1263C>A (p.Ala421=)
c.768C>A (p.Ala256=)
c.579C>A (p.Ala193=)
10g.86716655C>GCA470376060LDB3n.515-2072C>G
c.1371C>G (p.Ala457=)
c.1419C>G (p.Ala473=)
c.1560C>G (p.Ala520=)
c.1230C>G (p.Ala410=)
c.1575C>G (p.Ala525=)
c.1812C>G (p.Ala604=)
c.1764C>G (p.Ala588=)
c.1623C>G (p.Ala541=)
c.1608C>G (p.Ala536=)
c.1467C>G (p.Ala489=)
c.1278C>G (p.Ala426=)
c.1263C>G (p.Ala421=)
c.768C>G (p.Ala256=)
c.579C>G (p.Ala193=)
10g.86716655C>TCA470376063LDB3n.515-2072C>T
c.1371C>T (p.Ala457=)
c.1419C>T (p.Ala473=)
c.1560C>T (p.Ala520=)
c.1230C>T (p.Ala410=)
c.1575C>T (p.Ala525=)
c.1812C>T (p.Ala604=)
c.1764C>T (p.Ala588=)
c.1623C>T (p.Ala541=)
c.1608C>T (p.Ala536=)
c.1467C>T (p.Ala489=)
c.1278C>T (p.Ala426=)
c.1263C>T (p.Ala421=)
c.768C>T (p.Ala256=)
c.579C>T (p.Ala193=)
10g.86716656T>ACA377451304LDB3n.515-2071T>A
c.1372T>A (p.Tyr458Asn)
c.1420T>A (p.Tyr474Asn)
c.1561T>A (p.Tyr521Asn)
c.1231T>A (p.Tyr411Asn)
c.1576T>A (p.Tyr526Asn)
c.1813T>A (p.Tyr605Asn)
c.1765T>A (p.Tyr589Asn)
c.1624T>A (p.Tyr542Asn)
c.1609T>A (p.Tyr537Asn)
c.1468T>A (p.Tyr490Asn)
c.1279T>A (p.Tyr427Asn)
c.1264T>A (p.Tyr422Asn)
c.769T>A (p.Tyr257Asn)
c.580T>A (p.Tyr194Asn)
10g.86716656T>CCA211205557LDB3n.515-2071T>C
c.1372T>C (p.Tyr458His)
c.1420T>C (p.Tyr474His)
c.1561T>C (p.Tyr521His)
c.1231T>C (p.Tyr411His)
c.1576T>C (p.Tyr526His)
c.1813T>C (p.Tyr605His)
c.1765T>C (p.Tyr589His)
c.1624T>C (p.Tyr542His)
c.1609T>C (p.Tyr537His)
c.1468T>C (p.Tyr490His)
c.1279T>C (p.Tyr427His)
c.1264T>C (p.Tyr422His)
c.769T>C (p.Tyr257His)
c.580T>C (p.Tyr194His)
 dbSNP
10g.86716656T>GCA377451306LDB3n.515-2071T>G
c.1372T>G (p.Tyr458Asp)
c.1420T>G (p.Tyr474Asp)
c.1561T>G (p.Tyr521Asp)
c.1231T>G (p.Tyr411Asp)
c.1576T>G (p.Tyr526Asp)
c.1813T>G (p.Tyr605Asp)
c.1765T>G (p.Tyr589Asp)
c.1624T>G (p.Tyr542Asp)
c.1609T>G (p.Tyr537Asp)
c.1468T>G (p.Tyr490Asp)
c.1279T>G (p.Tyr427Asp)
c.1264T>G (p.Tyr422Asp)
c.769T>G (p.Tyr257Asp)
c.580T>G (p.Tyr194Asp)
10g.86716656T=CA1925631978LDB3n.515-2071T=
c.1372T= (p.Tyr458=)
c.1420T= (p.Tyr474=)
c.1561T= (p.Tyr521=)
c.1231T= (p.Tyr411=)
c.1576T= (p.Tyr526=)
c.1813T= (p.Tyr605=)
c.1765T= (p.Tyr589=)
c.1624T= (p.Tyr542=)
c.1609T= (p.Tyr537=)
c.1468T= (p.Tyr490=)
c.1279T= (p.Tyr427=)
c.1264T= (p.Tyr422=)
c.769T= (p.Tyr257=)
c.580T= (p.Tyr194=)
10g.86716657A=CA1925631979LDB3n.515-2070A=
c.1373A= (p.Tyr458=)
c.1421A= (p.Tyr474=)
c.1562A= (p.Tyr521=)
c.1232A= (p.Tyr411=)
c.1577A= (p.Tyr526=)
c.1814A= (p.Tyr605=)
c.1766A= (p.Tyr589=)
c.1625A= (p.Tyr542=)
c.1610A= (p.Tyr537=)
c.1469A= (p.Tyr490=)
c.1280A= (p.Tyr427=)
c.1265A= (p.Tyr422=)
c.770A= (p.Tyr257=)
c.581A= (p.Tyr194=)
10g.86716657A>CCA377451307LDB3n.515-2070A>C
c.1373A>C (p.Tyr458Ser)
c.1421A>C (p.Tyr474Ser)
c.1562A>C (p.Tyr521Ser)
c.1232A>C (p.Tyr411Ser)
c.1577A>C (p.Tyr526Ser)
c.1814A>C (p.Tyr605Ser)
c.1766A>C (p.Tyr589Ser)
c.1625A>C (p.Tyr542Ser)
c.1610A>C (p.Tyr537Ser)
c.1469A>C (p.Tyr490Ser)
c.1280A>C (p.Tyr427Ser)
c.1265A>C (p.Tyr422Ser)
c.770A>C (p.Tyr257Ser)
c.581A>C (p.Tyr194Ser)
10g.86716657A>GCA5585186LDB3n.515-2070A>G
c.1373A>G (p.Tyr458Cys)
c.1421A>G (p.Tyr474Cys)
c.1562A>G (p.Tyr521Cys)
c.1232A>G (p.Tyr411Cys)
c.1577A>G (p.Tyr526Cys)
c.1814A>G (p.Tyr605Cys)
c.1766A>G (p.Tyr589Cys)
c.1625A>G (p.Tyr542Cys)
c.1610A>G (p.Tyr537Cys)
c.1469A>G (p.Tyr490Cys)
c.1280A>G (p.Tyr427Cys)
c.1265A>G (p.Tyr422Cys)
c.770A>G (p.Tyr257Cys)
c.581A>G (p.Tyr194Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716657A>TCA377451310LDB3n.515-2070A>T
c.1373A>T (p.Tyr458Phe)
c.1421A>T (p.Tyr474Phe)
c.1562A>T (p.Tyr521Phe)
c.1232A>T (p.Tyr411Phe)
c.1577A>T (p.Tyr526Phe)
c.1814A>T (p.Tyr605Phe)
c.1766A>T (p.Tyr589Phe)
c.1625A>T (p.Tyr542Phe)
c.1610A>T (p.Tyr537Phe)
c.1469A>T (p.Tyr490Phe)
c.1280A>T (p.Tyr427Phe)
c.1265A>T (p.Tyr422Phe)
c.770A>T (p.Tyr257Phe)
c.581A>T (p.Tyr194Phe)
10g.86716658C>ACA377451312LDB3n.515-2069C>A
c.1374C>A (p.Tyr458Ter)
c.1422C>A (p.Tyr474Ter)
c.1563C>A (p.Tyr521Ter)
c.1233C>A (p.Tyr411Ter)
c.1578C>A (p.Tyr526Ter)
c.1815C>A (p.Tyr605Ter)
c.1767C>A (p.Tyr589Ter)
c.1626C>A (p.Tyr542Ter)
c.1611C>A (p.Tyr537Ter)
c.1470C>A (p.Tyr490Ter)
c.1281C>A (p.Tyr427Ter)
c.1266C>A (p.Tyr422Ter)
c.771C>A (p.Tyr257Ter)
c.582C>A (p.Tyr194Ter)
10g.86716658C=CA1925631980LDB3n.515-2069C=
c.1374C= (p.Tyr458=)
c.1422C= (p.Tyr474=)
c.1563C= (p.Tyr521=)
c.1233C= (p.Tyr411=)
c.1578C= (p.Tyr526=)
c.1815C= (p.Tyr605=)
c.1767C= (p.Tyr589=)
c.1626C= (p.Tyr542=)
c.1611C= (p.Tyr537=)
c.1470C= (p.Tyr490=)
c.1281C= (p.Tyr427=)
c.1266C= (p.Tyr422=)
c.771C= (p.Tyr257=)
c.582C= (p.Tyr194=)
10g.86716658C>GCA377451314LDB3n.515-2069C>G
c.1374C>G (p.Tyr458Ter)
c.1422C>G (p.Tyr474Ter)
c.1563C>G (p.Tyr521Ter)
c.1233C>G (p.Tyr411Ter)
c.1578C>G (p.Tyr526Ter)
c.1815C>G (p.Tyr605Ter)
c.1767C>G (p.Tyr589Ter)
c.1626C>G (p.Tyr542Ter)
c.1611C>G (p.Tyr537Ter)
c.1470C>G (p.Tyr490Ter)
c.1281C>G (p.Tyr427Ter)
c.1266C>G (p.Tyr422Ter)
c.771C>G (p.Tyr257Ter)
c.582C>G (p.Tyr194Ter)
10g.86716658C>TCA470376082LDB3n.515-2069C>T
c.1374C>T (p.Tyr458=)
c.1422C>T (p.Tyr474=)
c.1563C>T (p.Tyr521=)
c.1233C>T (p.Tyr411=)
c.1578C>T (p.Tyr526=)
c.1815C>T (p.Tyr605=)
c.1767C>T (p.Tyr589=)
c.1626C>T (p.Tyr542=)
c.1611C>T (p.Tyr537=)
c.1470C>T (p.Tyr490=)
c.1281C>T (p.Tyr427=)
c.1266C>T (p.Tyr422=)
c.771C>T (p.Tyr257=)
c.582C>T (p.Tyr194=)
 ClinVar dbSNP gnomAD v4
10g.86716659A>CCA377451316LDB3n.515-2068A>C
c.1375A>C (p.Thr459Pro)
c.1423A>C (p.Thr475Pro)
c.1564A>C (p.Thr522Pro)
c.1234A>C (p.Thr412Pro)
c.1579A>C (p.Thr527Pro)
c.1816A>C (p.Thr606Pro)
c.1768A>C (p.Thr590Pro)
c.1627A>C (p.Thr543Pro)
c.1612A>C (p.Thr538Pro)
c.1471A>C (p.Thr491Pro)
c.1282A>C (p.Thr428Pro)
c.1267A>C (p.Thr423Pro)
c.772A>C (p.Thr258Pro)
c.583A>C (p.Thr195Pro)
10g.86716659A>GCA377451320LDB3n.515-2068A>G
c.1375A>G (p.Thr459Ala)
c.1423A>G (p.Thr475Ala)
c.1564A>G (p.Thr522Ala)
c.1234A>G (p.Thr412Ala)
c.1579A>G (p.Thr527Ala)
c.1816A>G (p.Thr606Ala)
c.1768A>G (p.Thr590Ala)
c.1627A>G (p.Thr543Ala)
c.1612A>G (p.Thr538Ala)
c.1471A>G (p.Thr491Ala)
c.1282A>G (p.Thr428Ala)
c.1267A>G (p.Thr423Ala)
c.772A>G (p.Thr258Ala)
c.583A>G (p.Thr195Ala)
10g.86716659A>TCA377451318LDB3n.515-2068A>T
c.1375A>T (p.Thr459Ser)
c.1423A>T (p.Thr475Ser)
c.1564A>T (p.Thr522Ser)
c.1234A>T (p.Thr412Ser)
c.1579A>T (p.Thr527Ser)
c.1816A>T (p.Thr606Ser)
c.1768A>T (p.Thr590Ser)
c.1627A>T (p.Thr543Ser)
c.1612A>T (p.Thr538Ser)
c.1471A>T (p.Thr491Ser)
c.1282A>T (p.Thr428Ser)
c.1267A>T (p.Thr423Ser)
c.772A>T (p.Thr258Ser)
c.583A>T (p.Thr195Ser)
10g.86716660C>ACA377451322LDB3n.515-2067C>A
c.1376C>A (p.Thr459Asn)
c.1424C>A (p.Thr475Asn)
c.1565C>A (p.Thr522Asn)
c.1235C>A (p.Thr412Asn)
c.1580C>A (p.Thr527Asn)
c.1817C>A (p.Thr606Asn)
c.1769C>A (p.Thr590Asn)
c.1628C>A (p.Thr543Asn)
c.1613C>A (p.Thr538Asn)
c.1472C>A (p.Thr491Asn)
c.1283C>A (p.Thr428Asn)
c.1268C>A (p.Thr423Asn)
c.773C>A (p.Thr258Asn)
c.584C>A (p.Thr195Asn)
 ClinVar dbSNP gnomAD v4
10g.86716660C=CA1925631981LDB3n.515-2067C=
c.1376C= (p.Thr459=)
c.1424C= (p.Thr475=)
c.1565C= (p.Thr522=)
c.1235C= (p.Thr412=)
c.1580C= (p.Thr527=)
c.1817C= (p.Thr606=)
c.1769C= (p.Thr590=)
c.1628C= (p.Thr543=)
c.1613C= (p.Thr538=)
c.1472C= (p.Thr491=)
c.1283C= (p.Thr428=)
c.1268C= (p.Thr423=)
c.773C= (p.Thr258=)
c.584C= (p.Thr195=)
10g.86716660C>GCA377451324LDB3n.515-2067C>G
c.1376C>G (p.Thr459Ser)
c.1424C>G (p.Thr475Ser)
c.1565C>G (p.Thr522Ser)
c.1235C>G (p.Thr412Ser)
c.1580C>G (p.Thr527Ser)
c.1817C>G (p.Thr606Ser)
c.1769C>G (p.Thr590Ser)
c.1628C>G (p.Thr543Ser)
c.1613C>G (p.Thr538Ser)
c.1472C>G (p.Thr491Ser)
c.1283C>G (p.Thr428Ser)
c.1268C>G (p.Thr423Ser)
c.773C>G (p.Thr258Ser)
c.584C>G (p.Thr195Ser)
10g.86716660C>TCA377451326LDB3n.515-2067C>T
c.1376C>T (p.Thr459Ile)
c.1424C>T (p.Thr475Ile)
c.1565C>T (p.Thr522Ile)
c.1235C>T (p.Thr412Ile)
c.1580C>T (p.Thr527Ile)
c.1817C>T (p.Thr606Ile)
c.1769C>T (p.Thr590Ile)
c.1628C>T (p.Thr543Ile)
c.1613C>T (p.Thr538Ile)
c.1472C>T (p.Thr491Ile)
c.1283C>T (p.Thr428Ile)
c.1268C>T (p.Thr423Ile)
c.773C>T (p.Thr258Ile)
c.584C>T (p.Thr195Ile)
 ClinVar dbSNP gnomAD v4
10g.86716661C>ACA470376093LDB3n.515-2066C>A
c.1377C>A (p.Thr459=)
c.1425C>A (p.Thr475=)
c.1566C>A (p.Thr522=)
c.1236C>A (p.Thr412=)
c.1581C>A (p.Thr527=)
c.1818C>A (p.Thr606=)
c.1770C>A (p.Thr590=)
c.1629C>A (p.Thr543=)
c.1614C>A (p.Thr538=)
c.1473C>A (p.Thr491=)
c.1284C>A (p.Thr428=)
c.1269C>A (p.Thr423=)
c.774C>A (p.Thr258=)
c.585C>A (p.Thr195=)
10g.86716661C=CA1925631982LDB3n.515-2066C=
c.1377C= (p.Thr459=)
c.1425C= (p.Thr475=)
c.1566C= (p.Thr522=)
c.1236C= (p.Thr412=)
c.1581C= (p.Thr527=)
c.1818C= (p.Thr606=)
c.1770C= (p.Thr590=)
c.1629C= (p.Thr543=)
c.1614C= (p.Thr538=)
c.1473C= (p.Thr491=)
c.1284C= (p.Thr428=)
c.1269C= (p.Thr423=)
c.774C= (p.Thr258=)
c.585C= (p.Thr195=)
10g.86716661C>GCA470376095LDB3n.515-2066C>G
c.1377C>G (p.Thr459=)
c.1425C>G (p.Thr475=)
c.1566C>G (p.Thr522=)
c.1236C>G (p.Thr412=)
c.1581C>G (p.Thr527=)
c.1818C>G (p.Thr606=)
c.1770C>G (p.Thr590=)
c.1629C>G (p.Thr543=)
c.1614C>G (p.Thr538=)
c.1473C>G (p.Thr491=)
c.1284C>G (p.Thr428=)
c.1269C>G (p.Thr423=)
c.774C>G (p.Thr258=)
c.585C>G (p.Thr195=)
10g.86716661C>TCA5585187LDB3n.515-2066C>T
c.1377C>T (p.Thr459=)
c.1425C>T (p.Thr475=)
c.1566C>T (p.Thr522=)
c.1236C>T (p.Thr412=)
c.1581C>T (p.Thr527=)
c.1818C>T (p.Thr606=)
c.1770C>T (p.Thr590=)
c.1629C>T (p.Thr543=)
c.1614C>T (p.Thr538=)
c.1473C>T (p.Thr491=)
c.1284C>T (p.Thr428=)
c.1269C>T (p.Thr423=)
c.774C>T (p.Thr258=)
c.585C>T (p.Thr195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716662C>ACA377451330LDB3n.515-2065C>A
c.1378C>A (p.Pro460Thr)
c.1426C>A (p.Pro476Thr)
c.1567C>A (p.Pro523Thr)
c.1237C>A (p.Pro413Thr)
c.1582C>A (p.Pro528Thr)
c.1819C>A (p.Pro607Thr)
c.1771C>A (p.Pro591Thr)
c.1630C>A (p.Pro544Thr)
c.1615C>A (p.Pro539Thr)
c.1474C>A (p.Pro492Thr)
c.1285C>A (p.Pro429Thr)
c.1270C>A (p.Pro424Thr)
c.775C>A (p.Pro259Thr)
c.586C>A (p.Pro196Thr)
10g.86716662C=CA1925631983LDB3n.515-2065C=
c.1378C= (p.Pro460=)
c.1426C= (p.Pro476=)
c.1567C= (p.Pro523=)
c.1237C= (p.Pro413=)
c.1582C= (p.Pro528=)
c.1819C= (p.Pro607=)
c.1771C= (p.Pro591=)
c.1630C= (p.Pro544=)
c.1615C= (p.Pro539=)
c.1474C= (p.Pro492=)
c.1285C= (p.Pro429=)
c.1270C= (p.Pro424=)
c.775C= (p.Pro259=)
c.586C= (p.Pro196=)
10g.86716662C>GCA308636LDB3n.515-2065C>G
c.1378C>G (p.Pro460Ala)
c.1426C>G (p.Pro476Ala)
c.1567C>G (p.Pro523Ala)
c.1237C>G (p.Pro413Ala)
c.1582C>G (p.Pro528Ala)
c.1819C>G (p.Pro607Ala)
c.1771C>G (p.Pro591Ala)
c.1630C>G (p.Pro544Ala)
c.1615C>G (p.Pro539Ala)
c.1474C>G (p.Pro492Ala)
c.1285C>G (p.Pro429Ala)
c.1270C>G (p.Pro424Ala)
c.775C>G (p.Pro259Ala)
c.586C>G (p.Pro196Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716662C>TCA377451332LDB3n.515-2065C>T
c.1378C>T (p.Pro460Ser)
c.1426C>T (p.Pro476Ser)
c.1567C>T (p.Pro523Ser)
c.1237C>T (p.Pro413Ser)
c.1582C>T (p.Pro528Ser)
c.1819C>T (p.Pro607Ser)
c.1771C>T (p.Pro591Ser)
c.1630C>T (p.Pro544Ser)
c.1615C>T (p.Pro539Ser)
c.1474C>T (p.Pro492Ser)
c.1285C>T (p.Pro429Ser)
c.1270C>T (p.Pro424Ser)
c.775C>T (p.Pro259Ser)
c.586C>T (p.Pro196Ser)
 gnomAD v4
10g.86716663C>ACA377451334LDB3n.515-2064C>A
c.1379C>A (p.Pro460Gln)
c.1427C>A (p.Pro476Gln)
c.1568C>A (p.Pro523Gln)
c.1238C>A (p.Pro413Gln)
c.1583C>A (p.Pro528Gln)
c.1820C>A (p.Pro607Gln)
c.1772C>A (p.Pro591Gln)
c.1631C>A (p.Pro544Gln)
c.1616C>A (p.Pro539Gln)
c.1475C>A (p.Pro492Gln)
c.1286C>A (p.Pro429Gln)
c.1271C>A (p.Pro424Gln)
c.776C>A (p.Pro259Gln)
c.587C>A (p.Pro196Gln)
10g.86716663C>GCA377451336LDB3n.515-2064C>G
c.1379C>G (p.Pro460Arg)
c.1427C>G (p.Pro476Arg)
c.1568C>G (p.Pro523Arg)
c.1238C>G (p.Pro413Arg)
c.1583C>G (p.Pro528Arg)
c.1820C>G (p.Pro607Arg)
c.1772C>G (p.Pro591Arg)
c.1631C>G (p.Pro544Arg)
c.1616C>G (p.Pro539Arg)
c.1475C>G (p.Pro492Arg)
c.1286C>G (p.Pro429Arg)
c.1271C>G (p.Pro424Arg)
c.776C>G (p.Pro259Arg)
c.587C>G (p.Pro196Arg)
10g.86716663C>TCA377451338LDB3n.515-2064C>T
c.1379C>T (p.Pro460Leu)
c.1427C>T (p.Pro476Leu)
c.1568C>T (p.Pro523Leu)
c.1238C>T (p.Pro413Leu)
c.1583C>T (p.Pro528Leu)
c.1820C>T (p.Pro607Leu)
c.1772C>T (p.Pro591Leu)
c.1631C>T (p.Pro544Leu)
c.1616C>T (p.Pro539Leu)
c.1475C>T (p.Pro492Leu)
c.1286C>T (p.Pro429Leu)
c.1271C>T (p.Pro424Leu)
c.776C>T (p.Pro259Leu)
c.587C>T (p.Pro196Leu)
10g.86716664A=CA1925631984LDB3n.515-2063A=
c.1380A= (p.Pro460=)
c.1428A= (p.Pro476=)
c.1569A= (p.Pro523=)
c.1239A= (p.Pro413=)
c.1584A= (p.Pro528=)
c.1821A= (p.Pro607=)
c.1773A= (p.Pro591=)
c.1632A= (p.Pro544=)
c.1617A= (p.Pro539=)
c.1476A= (p.Pro492=)
c.1287A= (p.Pro429=)
c.1272A= (p.Pro424=)
c.777A= (p.Pro259=)
c.588A= (p.Pro196=)
10g.86716664A>CCA470376114LDB3n.515-2063A>C
c.1380A>C (p.Pro460=)
c.1428A>C (p.Pro476=)
c.1569A>C (p.Pro523=)
c.1239A>C (p.Pro413=)
c.1584A>C (p.Pro528=)
c.1821A>C (p.Pro607=)
c.1773A>C (p.Pro591=)
c.1632A>C (p.Pro544=)
c.1617A>C (p.Pro539=)
c.1476A>C (p.Pro492=)
c.1287A>C (p.Pro429=)
c.1272A>C (p.Pro424=)
c.777A>C (p.Pro259=)
c.588A>C (p.Pro196=)
10g.86716664A>GCA5585188LDB3n.515-2063A>G
c.1380A>G (p.Pro460=)
c.1428A>G (p.Pro476=)
c.1569A>G (p.Pro523=)
c.1239A>G (p.Pro413=)
c.1584A>G (p.Pro528=)
c.1821A>G (p.Pro607=)
c.1773A>G (p.Pro591=)
c.1632A>G (p.Pro544=)
c.1617A>G (p.Pro539=)
c.1476A>G (p.Pro492=)
c.1287A>G (p.Pro429=)
c.1272A>G (p.Pro424=)
c.777A>G (p.Pro259=)
c.588A>G (p.Pro196=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716664A>TCA470376119LDB3n.515-2063A>T
c.1380A>T (p.Pro460=)
c.1428A>T (p.Pro476=)
c.1569A>T (p.Pro523=)
c.1239A>T (p.Pro413=)
c.1584A>T (p.Pro528=)
c.1821A>T (p.Pro607=)
c.1773A>T (p.Pro591=)
c.1632A>T (p.Pro544=)
c.1617A>T (p.Pro539=)
c.1476A>T (p.Pro492=)
c.1287A>T (p.Pro429=)
c.1272A>T (p.Pro424=)
c.777A>T (p.Pro259=)
c.588A>T (p.Pro196=)
10g.86716665G>ACA377451341LDB3n.515-2062G>A
c.1381G>A (p.Ala461Thr)
c.1429G>A (p.Ala477Thr)
c.1570G>A (p.Ala524Thr)
c.1240G>A (p.Ala414Thr)
c.1585G>A (p.Ala529Thr)
c.1822G>A (p.Ala608Thr)
c.1774G>A (p.Ala592Thr)
c.1633G>A (p.Ala545Thr)
c.1618G>A (p.Ala540Thr)
c.1477G>A (p.Ala493Thr)
c.1288G>A (p.Ala430Thr)
c.1273G>A (p.Ala425Thr)
c.778G>A (p.Ala260Thr)
c.589G>A (p.Ala197Thr)
 ClinVar dbSNP gnomAD v4
10g.86716665G>CCA377451343LDB3n.515-2062G>C
c.1381G>C (p.Ala461Pro)
c.1429G>C (p.Ala477Pro)
c.1570G>C (p.Ala524Pro)
c.1240G>C (p.Ala414Pro)
c.1585G>C (p.Ala529Pro)
c.1822G>C (p.Ala608Pro)
c.1774G>C (p.Ala592Pro)
c.1633G>C (p.Ala545Pro)
c.1618G>C (p.Ala540Pro)
c.1477G>C (p.Ala493Pro)
c.1288G>C (p.Ala430Pro)
c.1273G>C (p.Ala425Pro)
c.778G>C (p.Ala260Pro)
c.589G>C (p.Ala197Pro)
10g.86716665G=CA1925631985LDB3n.515-2062G=
c.1381G= (p.Ala461=)
c.1429G= (p.Ala477=)
c.1570G= (p.Ala524=)
c.1240G= (p.Ala414=)
c.1585G= (p.Ala529=)
c.1822G= (p.Ala608=)
c.1774G= (p.Ala592=)
c.1633G= (p.Ala545=)
c.1618G= (p.Ala540=)
c.1477G= (p.Ala493=)
c.1288G= (p.Ala430=)
c.1273G= (p.Ala425=)
c.778G= (p.Ala260=)
c.589G= (p.Ala197=)
10g.86716665G>TCA377451345LDB3n.515-2062G>T
c.1381G>T (p.Ala461Ser)
c.1429G>T (p.Ala477Ser)
c.1570G>T (p.Ala524Ser)
c.1240G>T (p.Ala414Ser)
c.1585G>T (p.Ala529Ser)
c.1822G>T (p.Ala608Ser)
c.1774G>T (p.Ala592Ser)
c.1633G>T (p.Ala545Ser)
c.1618G>T (p.Ala540Ser)
c.1477G>T (p.Ala493Ser)
c.1288G>T (p.Ala430Ser)
c.1273G>T (p.Ala425Ser)
c.778G>T (p.Ala260Ser)
c.589G>T (p.Ala197Ser)
 gnomAD v4
10g.86716666C>ACA377451347LDB3n.515-2061C>A
c.1382C>A (p.Ala461Glu)
c.1430C>A (p.Ala477Glu)
c.1571C>A (p.Ala524Glu)
c.1241C>A (p.Ala414Glu)
c.1586C>A (p.Ala529Glu)
c.1823C>A (p.Ala608Glu)
c.1775C>A (p.Ala592Glu)
c.1634C>A (p.Ala545Glu)
c.1619C>A (p.Ala540Glu)
c.1478C>A (p.Ala493Glu)
c.1289C>A (p.Ala430Glu)
c.1274C>A (p.Ala425Glu)
c.779C>A (p.Ala260Glu)
c.590C>A (p.Ala197Glu)
 gnomAD v4
10g.86716666C=CA1925631986LDB3n.515-2061C=
c.1382C= (p.Ala461=)
c.1430C= (p.Ala477=)
c.1571C= (p.Ala524=)
c.1241C= (p.Ala414=)
c.1586C= (p.Ala529=)
c.1823C= (p.Ala608=)
c.1775C= (p.Ala592=)
c.1634C= (p.Ala545=)
c.1619C= (p.Ala540=)
c.1478C= (p.Ala493=)
c.1289C= (p.Ala430=)
c.1274C= (p.Ala425=)
c.779C= (p.Ala260=)
c.590C= (p.Ala197=)
10g.86716666C>GCA377451348LDB3n.515-2061C>G
c.1382C>G (p.Ala461Gly)
c.1430C>G (p.Ala477Gly)
c.1571C>G (p.Ala524Gly)
c.1241C>G (p.Ala414Gly)
c.1586C>G (p.Ala529Gly)
c.1823C>G (p.Ala608Gly)
c.1775C>G (p.Ala592Gly)
c.1634C>G (p.Ala545Gly)
c.1619C>G (p.Ala540Gly)
c.1478C>G (p.Ala493Gly)
c.1289C>G (p.Ala430Gly)
c.1274C>G (p.Ala425Gly)
c.779C>G (p.Ala260Gly)
c.590C>G (p.Ala197Gly)
10g.86716666C>TCA377451350LDB3n.515-2061C>T
c.1382C>T (p.Ala461Val)
c.1430C>T (p.Ala477Val)
c.1571C>T (p.Ala524Val)
c.1241C>T (p.Ala414Val)
c.1586C>T (p.Ala529Val)
c.1823C>T (p.Ala608Val)
c.1775C>T (p.Ala592Val)
c.1634C>T (p.Ala545Val)
c.1619C>T (p.Ala540Val)
c.1478C>T (p.Ala493Val)
c.1289C>T (p.Ala430Val)
c.1274C>T (p.Ala425Val)
c.779C>T (p.Ala260Val)
c.590C>T (p.Ala197Val)
 dbSNP gnomAD v4
10g.86716667G>ACA136543LDB3n.515-2060G>A
c.1383G>A (p.Ala461=)
c.1431G>A (p.Ala477=)
c.1572G>A (p.Ala524=)
c.1242G>A (p.Ala414=)
c.1587G>A (p.Ala529=)
c.1824G>A (p.Ala608=)
c.1776G>A (p.Ala592=)
c.1635G>A (p.Ala545=)
c.1620G>A (p.Ala540=)
c.1479G>A (p.Ala493=)
c.1290G>A (p.Ala430=)
c.1275G>A (p.Ala425=)
c.780G>A (p.Ala260=)
c.591G>A (p.Ala197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716667G>CCA470376138LDB3n.515-2060G>C
c.1383G>C (p.Ala461=)
c.1431G>C (p.Ala477=)
c.1572G>C (p.Ala524=)
c.1242G>C (p.Ala414=)
c.1587G>C (p.Ala529=)
c.1824G>C (p.Ala608=)
c.1776G>C (p.Ala592=)
c.1635G>C (p.Ala545=)
c.1620G>C (p.Ala540=)
c.1479G>C (p.Ala493=)
c.1290G>C (p.Ala430=)
c.1275G>C (p.Ala425=)
c.780G>C (p.Ala260=)
c.591G>C (p.Ala197=)
10g.86716667G=CA1925631987LDB3n.515-2060G=
c.1383G= (p.Ala461=)
c.1431G= (p.Ala477=)
c.1572G= (p.Ala524=)
c.1242G= (p.Ala414=)
c.1587G= (p.Ala529=)
c.1824G= (p.Ala608=)
c.1776G= (p.Ala592=)
c.1635G= (p.Ala545=)
c.1620G= (p.Ala540=)
c.1479G= (p.Ala493=)
c.1290G= (p.Ala430=)
c.1275G= (p.Ala425=)
c.780G= (p.Ala260=)
c.591G= (p.Ala197=)
10g.86716667G>TCA470376136LDB3n.515-2060G>T
c.1383G>T (p.Ala461=)
c.1431G>T (p.Ala477=)
c.1572G>T (p.Ala524=)
c.1242G>T (p.Ala414=)
c.1587G>T (p.Ala529=)
c.1824G>T (p.Ala608=)
c.1776G>T (p.Ala592=)
c.1635G>T (p.Ala545=)
c.1620G>T (p.Ala540=)
c.1479G>T (p.Ala493=)
c.1290G>T (p.Ala430=)
c.1275G>T (p.Ala425=)
c.780G>T (p.Ala260=)
c.591G>T (p.Ala197=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716668G>ACA377451353LDB3n.515-2059G>A
c.1384G>A (p.Gly462Ser)
c.1432G>A (p.Gly478Ser)
c.1573G>A (p.Gly525Ser)
c.1243G>A (p.Gly415Ser)
c.1588G>A (p.Gly530Ser)
c.1825G>A (p.Gly609Ser)
c.1777G>A (p.Gly593Ser)
c.1636G>A (p.Gly546Ser)
c.1621G>A (p.Gly541Ser)
c.1480G>A (p.Gly494Ser)
c.1291G>A (p.Gly431Ser)
c.1276G>A (p.Gly426Ser)
c.781G>A (p.Gly261Ser)
c.592G>A (p.Gly198Ser)
10g.86716668G>CCA308639LDB3n.515-2059G>C
c.1384G>C (p.Gly462Arg)
c.1432G>C (p.Gly478Arg)
c.1573G>C (p.Gly525Arg)
c.1243G>C (p.Gly415Arg)
c.1588G>C (p.Gly530Arg)
c.1825G>C (p.Gly609Arg)
c.1777G>C (p.Gly593Arg)
c.1636G>C (p.Gly546Arg)
c.1621G>C (p.Gly541Arg)
c.1480G>C (p.Gly494Arg)
c.1291G>C (p.Gly431Arg)
c.1276G>C (p.Gly426Arg)
c.781G>C (p.Gly261Arg)
c.592G>C (p.Gly198Arg)
 ClinVar dbSNP
10g.86716668G=CA1925631988LDB3n.515-2059G=
c.1384G= (p.Gly462=)
c.1432G= (p.Gly478=)
c.1573G= (p.Gly525=)
c.1243G= (p.Gly415=)
c.1588G= (p.Gly530=)
c.1825G= (p.Gly609=)
c.1777G= (p.Gly593=)
c.1636G= (p.Gly546=)
c.1621G= (p.Gly541=)
c.1480G= (p.Gly494=)
c.1291G= (p.Gly431=)
c.1276G= (p.Gly426=)
c.781G= (p.Gly261=)
c.592G= (p.Gly198=)
10g.86716668G>TCA377451355LDB3n.515-2059G>T
c.1384G>T (p.Gly462Cys)
c.1432G>T (p.Gly478Cys)
c.1573G>T (p.Gly525Cys)
c.1243G>T (p.Gly415Cys)
c.1588G>T (p.Gly530Cys)
c.1825G>T (p.Gly609Cys)
c.1777G>T (p.Gly593Cys)
c.1636G>T (p.Gly546Cys)
c.1621G>T (p.Gly541Cys)
c.1480G>T (p.Gly494Cys)
c.1291G>T (p.Gly431Cys)
c.1276G>T (p.Gly426Cys)
c.781G>T (p.Gly261Cys)
c.592G>T (p.Gly198Cys)
 dbSNP gnomAD v2 gnomAD v4
10g.86716669G>ACA377451356LDB3n.515-2058G>A
c.1385G>A (p.Gly462Asp)
c.1433G>A (p.Gly478Asp)
c.1574G>A (p.Gly525Asp)
c.1244G>A (p.Gly415Asp)
c.1589G>A (p.Gly530Asp)
c.1826G>A (p.Gly609Asp)
c.1778G>A (p.Gly593Asp)
c.1637G>A (p.Gly546Asp)
c.1622G>A (p.Gly541Asp)
c.1481G>A (p.Gly494Asp)
c.1292G>A (p.Gly431Asp)
c.1277G>A (p.Gly426Asp)
c.782G>A (p.Gly261Asp)
c.593G>A (p.Gly198Asp)
 gnomAD v4 COSMIC COSMIC
10g.86716669G>CCA377451358LDB3n.515-2058G>C
c.1385G>C (p.Gly462Ala)
c.1433G>C (p.Gly478Ala)
c.1574G>C (p.Gly525Ala)
c.1244G>C (p.Gly415Ala)
c.1589G>C (p.Gly530Ala)
c.1826G>C (p.Gly609Ala)
c.1778G>C (p.Gly593Ala)
c.1637G>C (p.Gly546Ala)
c.1622G>C (p.Gly541Ala)
c.1481G>C (p.Gly494Ala)
c.1292G>C (p.Gly431Ala)
c.1277G>C (p.Gly426Ala)
c.782G>C (p.Gly261Ala)
c.593G>C (p.Gly198Ala)
 ClinVar
10g.86716669G>TCA377451360LDB3n.515-2058G>T
c.1385G>T (p.Gly462Val)
c.1433G>T (p.Gly478Val)
c.1574G>T (p.Gly525Val)
c.1244G>T (p.Gly415Val)
c.1589G>T (p.Gly530Val)
c.1826G>T (p.Gly609Val)
c.1778G>T (p.Gly593Val)
c.1637G>T (p.Gly546Val)
c.1622G>T (p.Gly541Val)
c.1481G>T (p.Gly494Val)
c.1292G>T (p.Gly431Val)
c.1277G>T (p.Gly426Val)
c.782G>T (p.Gly261Val)
c.593G>T (p.Gly198Val)
10g.86716670T>ACA470376151LDB3n.515-2057T>A
c.1386T>A (p.Gly462=)
c.1434T>A (p.Gly478=)
c.1575T>A (p.Gly525=)
c.1245T>A (p.Gly415=)
c.1590T>A (p.Gly530=)
c.1827T>A (p.Gly609=)
c.1779T>A (p.Gly593=)
c.1638T>A (p.Gly546=)
c.1623T>A (p.Gly541=)
c.1482T>A (p.Gly494=)
c.1293T>A (p.Gly431=)
c.1278T>A (p.Gly426=)
c.783T>A (p.Gly261=)
c.594T>A (p.Gly198=)
10g.86716670T>CCA470376153LDB3n.515-2057T>C
c.1386T>C (p.Gly462=)
c.1434T>C (p.Gly478=)
c.1575T>C (p.Gly525=)
c.1245T>C (p.Gly415=)
c.1590T>C (p.Gly530=)
c.1827T>C (p.Gly609=)
c.1779T>C (p.Gly593=)
c.1638T>C (p.Gly546=)
c.1623T>C (p.Gly541=)
c.1482T>C (p.Gly494=)
c.1293T>C (p.Gly431=)
c.1278T>C (p.Gly426=)
c.783T>C (p.Gly261=)
c.594T>C (p.Gly198=)
 ClinVar gnomAD v4
10g.86716670T>GCA470376156LDB3n.515-2057T>G
c.1386T>G (p.Gly462=)
c.1434T>G (p.Gly478=)
c.1575T>G (p.Gly525=)
c.1245T>G (p.Gly415=)
c.1590T>G (p.Gly530=)
c.1827T>G (p.Gly609=)
c.1779T>G (p.Gly593=)
c.1638T>G (p.Gly546=)
c.1623T>G (p.Gly541=)
c.1482T>G (p.Gly494=)
c.1293T>G (p.Gly431=)
c.1278T>G (p.Gly426=)
c.783T>G (p.Gly261=)
c.594T>G (p.Gly198=)
10g.86716671C>ACA377451363LDB3n.515-2056C>A
c.1387C>A (p.Pro463Thr)
c.1435C>A (p.Pro479Thr)
c.1576C>A (p.Pro526Thr)
c.1246C>A (p.Pro416Thr)
c.1591C>A (p.Pro531Thr)
c.1828C>A (p.Pro610Thr)
c.1780C>A (p.Pro594Thr)
c.1639C>A (p.Pro547Thr)
c.1624C>A (p.Pro542Thr)
c.1483C>A (p.Pro495Thr)
c.1294C>A (p.Pro432Thr)
c.1279C>A (p.Pro427Thr)
c.784C>A (p.Pro262Thr)
c.595C>A (p.Pro199Thr)
10g.86716671C=CA1925631989LDB3n.515-2056C=
c.1387C= (p.Pro463=)
c.1435C= (p.Pro479=)
c.1576C= (p.Pro526=)
c.1246C= (p.Pro416=)
c.1591C= (p.Pro531=)
c.1828C= (p.Pro610=)
c.1780C= (p.Pro594=)
c.1639C= (p.Pro547=)
c.1624C= (p.Pro542=)
c.1483C= (p.Pro495=)
c.1294C= (p.Pro432=)
c.1279C= (p.Pro427=)
c.784C= (p.Pro262=)
c.595C= (p.Pro199=)
10g.86716671C>GCA377451365LDB3n.515-2056C>G
c.1387C>G (p.Pro463Ala)
c.1435C>G (p.Pro479Ala)
c.1576C>G (p.Pro526Ala)
c.1246C>G (p.Pro416Ala)
c.1591C>G (p.Pro531Ala)
c.1828C>G (p.Pro610Ala)
c.1780C>G (p.Pro594Ala)
c.1639C>G (p.Pro547Ala)
c.1624C>G (p.Pro542Ala)
c.1483C>G (p.Pro495Ala)
c.1294C>G (p.Pro432Ala)
c.1279C>G (p.Pro427Ala)
c.784C>G (p.Pro262Ala)
c.595C>G (p.Pro199Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716671C>TCA377451368LDB3n.515-2056C>T
c.1387C>T (p.Pro463Ser)
c.1435C>T (p.Pro479Ser)
c.1576C>T (p.Pro526Ser)
c.1246C>T (p.Pro416Ser)
c.1591C>T (p.Pro531Ser)
c.1828C>T (p.Pro610Ser)
c.1780C>T (p.Pro594Ser)
c.1639C>T (p.Pro547Ser)
c.1624C>T (p.Pro542Ser)
c.1483C>T (p.Pro495Ser)
c.1294C>T (p.Pro432Ser)
c.1279C>T (p.Pro427Ser)
c.784C>T (p.Pro262Ser)
c.595C>T (p.Pro199Ser)
10g.86716672C>ACA377451371LDB3n.515-2055C>A
c.1388C>A (p.Pro463His)
c.1436C>A (p.Pro479His)
c.1577C>A (p.Pro526His)
c.1247C>A (p.Pro416His)
c.1592C>A (p.Pro531His)
c.1829C>A (p.Pro610His)
c.1781C>A (p.Pro594His)
c.1640C>A (p.Pro547His)
c.1625C>A (p.Pro542His)
c.1484C>A (p.Pro495His)
c.1295C>A (p.Pro432His)
c.1280C>A (p.Pro427His)
c.785C>A (p.Pro262His)
c.596C>A (p.Pro199His)
10g.86716672C>GCA377451373LDB3n.515-2055C>G
c.1388C>G (p.Pro463Arg)
c.1436C>G (p.Pro479Arg)
c.1577C>G (p.Pro526Arg)
c.1247C>G (p.Pro416Arg)
c.1592C>G (p.Pro531Arg)
c.1829C>G (p.Pro610Arg)
c.1781C>G (p.Pro594Arg)
c.1640C>G (p.Pro547Arg)
c.1625C>G (p.Pro542Arg)
c.1484C>G (p.Pro495Arg)
c.1295C>G (p.Pro432Arg)
c.1280C>G (p.Pro427Arg)
c.785C>G (p.Pro262Arg)
c.596C>G (p.Pro199Arg)
 gnomAD v4
10g.86716672C>TCA377451375LDB3n.515-2055C>T
c.1388C>T (p.Pro463Leu)
c.1436C>T (p.Pro479Leu)
c.1577C>T (p.Pro526Leu)
c.1247C>T (p.Pro416Leu)
c.1592C>T (p.Pro531Leu)
c.1829C>T (p.Pro610Leu)
c.1781C>T (p.Pro594Leu)
c.1640C>T (p.Pro547Leu)
c.1625C>T (p.Pro542Leu)
c.1484C>T (p.Pro495Leu)
c.1295C>T (p.Pro432Leu)
c.1280C>T (p.Pro427Leu)
c.785C>T (p.Pro262Leu)
c.596C>T (p.Pro199Leu)
 gnomAD v4
10g.86716673T>ACA470376172LDB3n.515-2054T>A
c.1389T>A (p.Pro463=)
c.1437T>A (p.Pro479=)
c.1578T>A (p.Pro526=)
c.1248T>A (p.Pro416=)
c.1593T>A (p.Pro531=)
c.1830T>A (p.Pro610=)
c.1782T>A (p.Pro594=)
c.1641T>A (p.Pro547=)
c.1626T>A (p.Pro542=)
c.1485T>A (p.Pro495=)
c.1296T>A (p.Pro432=)
c.1281T>A (p.Pro427=)
c.786T>A (p.Pro262=)
c.597T>A (p.Pro199=)
10g.86716673T>CCA470376175LDB3n.515-2054T>C
c.1389T>C (p.Pro463=)
c.1437T>C (p.Pro479=)
c.1578T>C (p.Pro526=)
c.1248T>C (p.Pro416=)
c.1593T>C (p.Pro531=)
c.1830T>C (p.Pro610=)
c.1782T>C (p.Pro594=)
c.1641T>C (p.Pro547=)
c.1626T>C (p.Pro542=)
c.1485T>C (p.Pro495=)
c.1296T>C (p.Pro432=)
c.1281T>C (p.Pro427=)
c.786T>C (p.Pro262=)
c.597T>C (p.Pro199=)
 dbSNP gnomAD v4
10g.86716673T>GCA470376174LDB3n.515-2054T>G
c.1389T>G (p.Pro463=)
c.1437T>G (p.Pro479=)
c.1578T>G (p.Pro526=)
c.1248T>G (p.Pro416=)
c.1593T>G (p.Pro531=)
c.1830T>G (p.Pro610=)
c.1782T>G (p.Pro594=)
c.1641T>G (p.Pro547=)
c.1626T>G (p.Pro542=)
c.1485T>G (p.Pro495=)
c.1296T>G (p.Pro432=)
c.1281T>G (p.Pro427=)
c.786T>G (p.Pro262=)
c.597T>G (p.Pro199=)
10g.86716674C>ACA377451377LDB3n.515-2053C>A
c.1390C>A (p.Gln464Lys)
c.1438C>A (p.Gln480Lys)
c.1579C>A (p.Gln527Lys)
c.1249C>A (p.Gln417Lys)
c.1594C>A (p.Gln532Lys)
c.1831C>A (p.Gln611Lys)
c.1783C>A (p.Gln595Lys)
c.1642C>A (p.Gln548Lys)
c.1627C>A (p.Gln543Lys)
c.1486C>A (p.Gln496Lys)
c.1297C>A (p.Gln433Lys)
c.1282C>A (p.Gln428Lys)
c.787C>A (p.Gln263Lys)
c.598C>A (p.Gln200Lys)
10g.86716674C>GCA377451379LDB3n.515-2053C>G
c.1390C>G (p.Gln464Glu)
c.1438C>G (p.Gln480Glu)
c.1579C>G (p.Gln527Glu)
c.1249C>G (p.Gln417Glu)
c.1594C>G (p.Gln532Glu)
c.1831C>G (p.Gln611Glu)
c.1783C>G (p.Gln595Glu)
c.1642C>G (p.Gln548Glu)
c.1627C>G (p.Gln543Glu)
c.1486C>G (p.Gln496Glu)
c.1297C>G (p.Gln433Glu)
c.1282C>G (p.Gln428Glu)
c.787C>G (p.Gln263Glu)
c.598C>G (p.Gln200Glu)
10g.86716674C>TCA377451387LDB3n.515-2053C>T
c.1390C>T (p.Gln464Ter)
c.1438C>T (p.Gln480Ter)
c.1579C>T (p.Gln527Ter)
c.1249C>T (p.Gln417Ter)
c.1594C>T (p.Gln532Ter)
c.1831C>T (p.Gln611Ter)
c.1783C>T (p.Gln595Ter)
c.1642C>T (p.Gln548Ter)
c.1627C>T (p.Gln543Ter)
c.1486C>T (p.Gln496Ter)
c.1297C>T (p.Gln433Ter)
c.1282C>T (p.Gln428Ter)
c.787C>T (p.Gln263Ter)
c.598C>T (p.Gln200Ter)
10g.86716675A>CCA377451394LDB3n.515-2052A>C
c.1391A>C (p.Gln464Pro)
c.1439A>C (p.Gln480Pro)
c.1580A>C (p.Gln527Pro)
c.1250A>C (p.Gln417Pro)
c.1595A>C (p.Gln532Pro)
c.1832A>C (p.Gln611Pro)
c.1784A>C (p.Gln595Pro)
c.1643A>C (p.Gln548Pro)
c.1628A>C (p.Gln543Pro)
c.1487A>C (p.Gln496Pro)
c.1298A>C (p.Gln433Pro)
c.1283A>C (p.Gln428Pro)
c.788A>C (p.Gln263Pro)
c.599A>C (p.Gln200Pro)
10g.86716675A>GCA377451389LDB3n.515-2052A>G
c.1391A>G (p.Gln464Arg)
c.1439A>G (p.Gln480Arg)
c.1580A>G (p.Gln527Arg)
c.1250A>G (p.Gln417Arg)
c.1595A>G (p.Gln532Arg)
c.1832A>G (p.Gln611Arg)
c.1784A>G (p.Gln595Arg)
c.1643A>G (p.Gln548Arg)
c.1628A>G (p.Gln543Arg)
c.1487A>G (p.Gln496Arg)
c.1298A>G (p.Gln433Arg)
c.1283A>G (p.Gln428Arg)
c.788A>G (p.Gln263Arg)
c.599A>G (p.Gln200Arg)
10g.86716675A>TCA377451391LDB3n.515-2052A>T
c.1391A>T (p.Gln464Leu)
c.1439A>T (p.Gln480Leu)
c.1580A>T (p.Gln527Leu)
c.1250A>T (p.Gln417Leu)
c.1595A>T (p.Gln532Leu)
c.1832A>T (p.Gln611Leu)
c.1784A>T (p.Gln595Leu)
c.1643A>T (p.Gln548Leu)
c.1628A>T (p.Gln543Leu)
c.1487A>T (p.Gln496Leu)
c.1298A>T (p.Gln433Leu)
c.1283A>T (p.Gln428Leu)
c.788A>T (p.Gln263Leu)
c.599A>T (p.Gln200Leu)
10g.86716676G>ACA470376192LDB3n.515-2051G>A
c.1392G>A (p.Gln464=)
c.1440G>A (p.Gln480=)
c.1581G>A (p.Gln527=)
c.1251G>A (p.Gln417=)
c.1596G>A (p.Gln532=)
c.1833G>A (p.Gln611=)
c.1785G>A (p.Gln595=)
c.1644G>A (p.Gln548=)
c.1629G>A (p.Gln543=)
c.1488G>A (p.Gln496=)
c.1299G>A (p.Gln433=)
c.1284G>A (p.Gln428=)
c.789G>A (p.Gln263=)
c.600G>A (p.Gln200=)
10g.86716676G>CCA377451396LDB3n.515-2051G>C
c.1392G>C (p.Gln464His)
c.1440G>C (p.Gln480His)
c.1581G>C (p.Gln527His)
c.1251G>C (p.Gln417His)
c.1596G>C (p.Gln532His)
c.1833G>C (p.Gln611His)
c.1785G>C (p.Gln595His)
c.1644G>C (p.Gln548His)
c.1629G>C (p.Gln543His)
c.1488G>C (p.Gln496His)
c.1299G>C (p.Gln433His)
c.1284G>C (p.Gln428His)
c.789G>C (p.Gln263His)
c.600G>C (p.Gln200His)
10g.86716676G>TCA377451398LDB3n.515-2051G>T
c.1392G>T (p.Gln464His)
c.1440G>T (p.Gln480His)
c.1581G>T (p.Gln527His)
c.1251G>T (p.Gln417His)
c.1596G>T (p.Gln532His)
c.1833G>T (p.Gln611His)
c.1785G>T (p.Gln595His)
c.1644G>T (p.Gln548His)
c.1629G>T (p.Gln543His)
c.1488G>T (p.Gln496His)
c.1299G>T (p.Gln433His)
c.1284G>T (p.Gln428His)
c.789G>T (p.Gln263His)
c.600G>T (p.Gln200His)
10g.86716677G>ACA377451399LDB3n.515-2050G>A
c.1393G>A (p.Val465Met)
c.1441G>A (p.Val481Met)
c.1582G>A (p.Val528Met)
c.1252G>A (p.Val418Met)
c.1597G>A (p.Val533Met)
c.1834G>A (p.Val612Met)
c.1786G>A (p.Val596Met)
c.1645G>A (p.Val549Met)
c.1630G>A (p.Val544Met)
c.1489G>A (p.Val497Met)
c.1300G>A (p.Val434Met)
c.1285G>A (p.Val429Met)
c.790G>A (p.Val264Met)
c.601G>A (p.Val201Met)
 dbSNP gnomAD v4
10g.86716677G>CCA377451401LDB3n.515-2050G>C
c.1393G>C (p.Val465Leu)
c.1441G>C (p.Val481Leu)
c.1582G>C (p.Val528Leu)
c.1252G>C (p.Val418Leu)
c.1597G>C (p.Val533Leu)
c.1834G>C (p.Val612Leu)
c.1786G>C (p.Val596Leu)
c.1645G>C (p.Val549Leu)
c.1630G>C (p.Val544Leu)
c.1489G>C (p.Val497Leu)
c.1300G>C (p.Val434Leu)
c.1285G>C (p.Val429Leu)
c.790G>C (p.Val264Leu)
c.601G>C (p.Val201Leu)
 gnomAD v4
10g.86716677G=CA1925631990LDB3n.515-2050G=
c.1393G= (p.Val465=)
c.1441G= (p.Val481=)
c.1582G= (p.Val528=)
c.1252G= (p.Val418=)
c.1597G= (p.Val533=)
c.1834G= (p.Val612=)
c.1786G= (p.Val596=)
c.1645G= (p.Val549=)
c.1630G= (p.Val544=)
c.1489G= (p.Val497=)
c.1300G= (p.Val434=)
c.1285G= (p.Val429=)
c.790G= (p.Val264=)
c.601G= (p.Val201=)
10g.86716677G>TCA377451406LDB3n.515-2050G>T
c.1393G>T (p.Val465Leu)
c.1441G>T (p.Val481Leu)
c.1582G>T (p.Val528Leu)
c.1252G>T (p.Val418Leu)
c.1597G>T (p.Val533Leu)
c.1834G>T (p.Val612Leu)
c.1786G>T (p.Val596Leu)
c.1645G>T (p.Val549Leu)
c.1630G>T (p.Val544Leu)
c.1489G>T (p.Val497Leu)
c.1300G>T (p.Val434Leu)
c.1285G>T (p.Val429Leu)
c.790G>T (p.Val264Leu)
c.601G>T (p.Val201Leu)
10g.86716678T>ACA377451408LDB3n.515-2049T>A
c.1394T>A (p.Val465Glu)
c.1442T>A (p.Val481Glu)
c.1583T>A (p.Val528Glu)
c.1253T>A (p.Val418Glu)
c.1598T>A (p.Val533Glu)
c.1835T>A (p.Val612Glu)
c.1787T>A (p.Val596Glu)
c.1646T>A (p.Val549Glu)
c.1631T>A (p.Val544Glu)
c.1490T>A (p.Val497Glu)
c.1301T>A (p.Val434Glu)
c.1286T>A (p.Val429Glu)
c.791T>A (p.Val264Glu)
c.602T>A (p.Val201Glu)
10g.86716678T>CCA377451410LDB3n.515-2049T>C
c.1394T>C (p.Val465Ala)
c.1442T>C (p.Val481Ala)
c.1583T>C (p.Val528Ala)
c.1253T>C (p.Val418Ala)
c.1598T>C (p.Val533Ala)
c.1835T>C (p.Val612Ala)
c.1787T>C (p.Val596Ala)
c.1646T>C (p.Val549Ala)
c.1631T>C (p.Val544Ala)
c.1490T>C (p.Val497Ala)
c.1301T>C (p.Val434Ala)
c.1286T>C (p.Val429Ala)
c.791T>C (p.Val264Ala)
c.602T>C (p.Val201Ala)
10g.86716678T>GCA377451412LDB3n.515-2049T>G
c.1394T>G (p.Val465Gly)
c.1442T>G (p.Val481Gly)
c.1583T>G (p.Val528Gly)
c.1253T>G (p.Val418Gly)
c.1598T>G (p.Val533Gly)
c.1835T>G (p.Val612Gly)
c.1787T>G (p.Val596Gly)
c.1646T>G (p.Val549Gly)
c.1631T>G (p.Val544Gly)
c.1490T>G (p.Val497Gly)
c.1301T>G (p.Val434Gly)
c.1286T>G (p.Val429Gly)
c.791T>G (p.Val264Gly)
c.602T>G (p.Val201Gly)
10g.86716679G>ACA470376207LDB3n.515-2048G>A
c.1395G>A (p.Val465=)
c.1443G>A (p.Val481=)
c.1584G>A (p.Val528=)
c.1254G>A (p.Val418=)
c.1599G>A (p.Val533=)
c.1836G>A (p.Val612=)
c.1788G>A (p.Val596=)
c.1647G>A (p.Val549=)
c.1632G>A (p.Val544=)
c.1491G>A (p.Val497=)
c.1302G>A (p.Val434=)
c.1287G>A (p.Val429=)
c.792G>A (p.Val264=)
c.603G>A (p.Val201=)
 gnomAD v4
10g.86716679G>CCA470376212LDB3n.515-2048G>C
c.1395G>C (p.Val465=)
c.1443G>C (p.Val481=)
c.1584G>C (p.Val528=)
c.1254G>C (p.Val418=)
c.1599G>C (p.Val533=)
c.1836G>C (p.Val612=)
c.1788G>C (p.Val596=)
c.1647G>C (p.Val549=)
c.1632G>C (p.Val544=)
c.1491G>C (p.Val497=)
c.1302G>C (p.Val434=)
c.1287G>C (p.Val429=)
c.792G>C (p.Val264=)
c.603G>C (p.Val201=)
10g.86716679G>TCA470376213LDB3n.515-2048G>T
c.1395G>T (p.Val465=)
c.1443G>T (p.Val481=)
c.1584G>T (p.Val528=)
c.1254G>T (p.Val418=)
c.1599G>T (p.Val533=)
c.1836G>T (p.Val612=)
c.1788G>T (p.Val596=)
c.1647G>T (p.Val549=)
c.1632G>T (p.Val544=)
c.1491G>T (p.Val497=)
c.1302G>T (p.Val434=)
c.1287G>T (p.Val429=)
c.792G>T (p.Val264=)
c.603G>T (p.Val201=)
10g.86716680C>ACA377451416LDB3n.515-2047C>A
c.1396C>A (p.Pro466Thr)
c.1444C>A (p.Pro482Thr)
c.1585C>A (p.Pro529Thr)
c.1255C>A (p.Pro419Thr)
c.1600C>A (p.Pro534Thr)
c.1837C>A (p.Pro613Thr)
c.1789C>A (p.Pro597Thr)
c.1648C>A (p.Pro550Thr)
c.1633C>A (p.Pro545Thr)
c.1492C>A (p.Pro498Thr)
c.1303C>A (p.Pro435Thr)
c.1288C>A (p.Pro430Thr)
c.793C>A (p.Pro265Thr)
c.604C>A (p.Pro202Thr)
10g.86716680C>GCA377451417LDB3n.515-2047C>G
c.1396C>G (p.Pro466Ala)
c.1444C>G (p.Pro482Ala)
c.1585C>G (p.Pro529Ala)
c.1255C>G (p.Pro419Ala)
c.1600C>G (p.Pro534Ala)
c.1837C>G (p.Pro613Ala)
c.1789C>G (p.Pro597Ala)
c.1648C>G (p.Pro550Ala)
c.1633C>G (p.Pro545Ala)
c.1492C>G (p.Pro498Ala)
c.1303C>G (p.Pro435Ala)
c.1288C>G (p.Pro430Ala)
c.793C>G (p.Pro265Ala)
c.604C>G (p.Pro202Ala)
 gnomAD v4
10g.86716680C>TCA377451419LDB3n.515-2047C>T
c.1396C>T (p.Pro466Ser)
c.1444C>T (p.Pro482Ser)
c.1585C>T (p.Pro529Ser)
c.1255C>T (p.Pro419Ser)
c.1600C>T (p.Pro534Ser)
c.1837C>T (p.Pro613Ser)
c.1789C>T (p.Pro597Ser)
c.1648C>T (p.Pro550Ser)
c.1633C>T (p.Pro545Ser)
c.1492C>T (p.Pro498Ser)
c.1303C>T (p.Pro435Ser)
c.1288C>T (p.Pro430Ser)
c.793C>T (p.Pro265Ser)
c.604C>T (p.Pro202Ser)
10g.86716681C>ACA377451426LDB3n.515-2046C>A
c.1397C>A (p.Pro466Gln)
c.1445C>A (p.Pro482Gln)
c.1586C>A (p.Pro529Gln)
c.1256C>A (p.Pro419Gln)
c.1601C>A (p.Pro534Gln)
c.1838C>A (p.Pro613Gln)
c.1790C>A (p.Pro597Gln)
c.1649C>A (p.Pro550Gln)
c.1634C>A (p.Pro545Gln)
c.1493C>A (p.Pro498Gln)
c.1304C>A (p.Pro435Gln)
c.1289C>A (p.Pro430Gln)
c.794C>A (p.Pro265Gln)
c.605C>A (p.Pro202Gln)
10g.86716681C=CA1925631991LDB3n.515-2046C=
c.1397C= (p.Pro466=)
c.1445C= (p.Pro482=)
c.1586C= (p.Pro529=)
c.1256C= (p.Pro419=)
c.1601C= (p.Pro534=)
c.1838C= (p.Pro613=)
c.1790C= (p.Pro597=)
c.1649C= (p.Pro550=)
c.1634C= (p.Pro545=)
c.1493C= (p.Pro498=)
c.1304C= (p.Pro435=)
c.1289C= (p.Pro430=)
c.794C= (p.Pro265=)
c.605C= (p.Pro202=)
10g.86716681C>GCA136546LDB3n.515-2046C>G
c.1397C>G (p.Pro466Arg)
c.1445C>G (p.Pro482Arg)
c.1586C>G (p.Pro529Arg)
c.1256C>G (p.Pro419Arg)
c.1601C>G (p.Pro534Arg)
c.1838C>G (p.Pro613Arg)
c.1790C>G (p.Pro597Arg)
c.1649C>G (p.Pro550Arg)
c.1634C>G (p.Pro545Arg)
c.1493C>G (p.Pro498Arg)
c.1304C>G (p.Pro435Arg)
c.1289C>G (p.Pro430Arg)
c.794C>G (p.Pro265Arg)
c.605C>G (p.Pro202Arg)
 ClinVar dbSNP gnomAD v4
10g.86716681C>TCA377451421LDB3n.515-2046C>T
c.1397C>T (p.Pro466Leu)
c.1445C>T (p.Pro482Leu)
c.1586C>T (p.Pro529Leu)
c.1256C>T (p.Pro419Leu)
c.1601C>T (p.Pro534Leu)
c.1838C>T (p.Pro613Leu)
c.1790C>T (p.Pro597Leu)
c.1649C>T (p.Pro550Leu)
c.1634C>T (p.Pro545Leu)
c.1493C>T (p.Pro498Leu)
c.1304C>T (p.Pro435Leu)
c.1289C>T (p.Pro430Leu)
c.794C>T (p.Pro265Leu)
c.605C>T (p.Pro202Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.86716682A>CCA470376232LDB3n.515-2045A>C
c.1398A>C (p.Pro466=)
c.1446A>C (p.Pro482=)
c.1587A>C (p.Pro529=)
c.1257A>C (p.Pro419=)
c.1602A>C (p.Pro534=)
c.1839A>C (p.Pro613=)
c.1791A>C (p.Pro597=)
c.1650A>C (p.Pro550=)
c.1635A>C (p.Pro545=)
c.1494A>C (p.Pro498=)
c.1305A>C (p.Pro435=)
c.1290A>C (p.Pro430=)
c.795A>C (p.Pro265=)
c.606A>C (p.Pro202=)
10g.86716682A>GCA470376227LDB3n.515-2045A>G
c.1398A>G (p.Pro466=)
c.1446A>G (p.Pro482=)
c.1587A>G (p.Pro529=)
c.1257A>G (p.Pro419=)
c.1602A>G (p.Pro534=)
c.1839A>G (p.Pro613=)
c.1791A>G (p.Pro597=)
c.1650A>G (p.Pro550=)
c.1635A>G (p.Pro545=)
c.1494A>G (p.Pro498=)
c.1305A>G (p.Pro435=)
c.1290A>G (p.Pro430=)
c.795A>G (p.Pro265=)
c.606A>G (p.Pro202=)
 ClinVar dbSNP
10g.86716682A>TCA470376229LDB3n.515-2045A>T
c.1398A>T (p.Pro466=)
c.1446A>T (p.Pro482=)
c.1587A>T (p.Pro529=)
c.1257A>T (p.Pro419=)
c.1602A>T (p.Pro534=)
c.1839A>T (p.Pro613=)
c.1791A>T (p.Pro597=)
c.1650A>T (p.Pro550=)
c.1635A>T (p.Pro545=)
c.1494A>T (p.Pro498=)
c.1305A>T (p.Pro435=)
c.1290A>T (p.Pro430=)
c.795A>T (p.Pro265=)
c.606A>T (p.Pro202=)
10g.86716683C>ACA377451429LDB3n.515-2044C>A
c.1399C>A (p.Pro467Thr)
c.1447C>A (p.Pro483Thr)
c.1588C>A (p.Pro530Thr)
c.1258C>A (p.Pro420Thr)
c.1603C>A (p.Pro535Thr)
c.1840C>A (p.Pro614Thr)
c.1792C>A (p.Pro598Thr)
c.1651C>A (p.Pro551Thr)
c.1636C>A (p.Pro546Thr)
c.1495C>A (p.Pro499Thr)
c.1306C>A (p.Pro436Thr)
c.1291C>A (p.Pro431Thr)
c.796C>A (p.Pro266Thr)
c.607C>A (p.Pro203Thr)
10g.86716683C>GCA377451428LDB3n.515-2044C>G
c.1399C>G (p.Pro467Ala)
c.1447C>G (p.Pro483Ala)
c.1588C>G (p.Pro530Ala)
c.1258C>G (p.Pro420Ala)
c.1603C>G (p.Pro535Ala)
c.1840C>G (p.Pro614Ala)
c.1792C>G (p.Pro598Ala)
c.1651C>G (p.Pro551Ala)
c.1636C>G (p.Pro546Ala)
c.1495C>G (p.Pro499Ala)
c.1306C>G (p.Pro436Ala)
c.1291C>G (p.Pro431Ala)
c.796C>G (p.Pro266Ala)
c.607C>G (p.Pro203Ala)
10g.86716683C>TCA377451431LDB3n.515-2044C>T
c.1399C>T (p.Pro467Ser)
c.1447C>T (p.Pro483Ser)
c.1588C>T (p.Pro530Ser)
c.1258C>T (p.Pro420Ser)
c.1603C>T (p.Pro535Ser)
c.1840C>T (p.Pro614Ser)
c.1792C>T (p.Pro598Ser)
c.1651C>T (p.Pro551Ser)
c.1636C>T (p.Pro546Ser)
c.1495C>T (p.Pro499Ser)
c.1306C>T (p.Pro436Ser)
c.1291C>T (p.Pro431Ser)
c.796C>T (p.Pro266Ser)
c.607C>T (p.Pro203Ser)
10g.86716684C>ACA377451433LDB3n.515-2043C>A
c.1400C>A (p.Pro467Gln)
c.1448C>A (p.Pro483Gln)
c.1589C>A (p.Pro530Gln)
c.1259C>A (p.Pro420Gln)
c.1604C>A (p.Pro535Gln)
c.1841C>A (p.Pro614Gln)
c.1793C>A (p.Pro598Gln)
c.1652C>A (p.Pro551Gln)
c.1637C>A (p.Pro546Gln)
c.1496C>A (p.Pro499Gln)
c.1307C>A (p.Pro436Gln)
c.1292C>A (p.Pro431Gln)
c.797C>A (p.Pro266Gln)
c.608C>A (p.Pro203Gln)
10g.86716684C>GCA377451435LDB3n.515-2043C>G
c.1400C>G (p.Pro467Arg)
c.1448C>G (p.Pro483Arg)
c.1589C>G (p.Pro530Arg)
c.1259C>G (p.Pro420Arg)
c.1604C>G (p.Pro535Arg)
c.1841C>G (p.Pro614Arg)
c.1793C>G (p.Pro598Arg)
c.1652C>G (p.Pro551Arg)
c.1637C>G (p.Pro546Arg)
c.1496C>G (p.Pro499Arg)
c.1307C>G (p.Pro436Arg)
c.1292C>G (p.Pro431Arg)
c.797C>G (p.Pro266Arg)
c.608C>G (p.Pro203Arg)
10g.86716684C>TCA377451437LDB3n.515-2043C>T
c.1400C>T (p.Pro467Leu)
c.1448C>T (p.Pro483Leu)
c.1589C>T (p.Pro530Leu)
c.1259C>T (p.Pro420Leu)
c.1604C>T (p.Pro535Leu)
c.1841C>T (p.Pro614Leu)
c.1793C>T (p.Pro598Leu)
c.1652C>T (p.Pro551Leu)
c.1637C>T (p.Pro546Leu)
c.1496C>T (p.Pro499Leu)
c.1307C>T (p.Pro436Leu)
c.1292C>T (p.Pro431Leu)
c.797C>T (p.Pro266Leu)
c.608C>T (p.Pro203Leu)
10g.86716685A=CA1925631992LDB3n.515-2042A=
c.1401A= (p.Pro467=)
c.1449A= (p.Pro483=)
c.1590A= (p.Pro530=)
c.1260A= (p.Pro420=)
c.1605A= (p.Pro535=)
c.1842A= (p.Pro614=)
c.1794A= (p.Pro598=)
c.1653A= (p.Pro551=)
c.1638A= (p.Pro546=)
c.1497A= (p.Pro499=)
c.1308A= (p.Pro436=)
c.1293A= (p.Pro431=)
c.798A= (p.Pro266=)
c.609A= (p.Pro203=)
10g.86716685A>CCA470376245LDB3n.515-2042A>C
c.1401A>C (p.Pro467=)
c.1449A>C (p.Pro483=)
c.1590A>C (p.Pro530=)
c.1260A>C (p.Pro420=)
c.1605A>C (p.Pro535=)
c.1842A>C (p.Pro614=)
c.1794A>C (p.Pro598=)
c.1653A>C (p.Pro551=)
c.1638A>C (p.Pro546=)
c.1497A>C (p.Pro499=)
c.1308A>C (p.Pro436=)
c.1293A>C (p.Pro431=)
c.798A>C (p.Pro266=)
c.609A>C (p.Pro203=)
10g.86716685A>GCA5585189LDB3n.515-2042A>G
c.1401A>G (p.Pro467=)
c.1449A>G (p.Pro483=)
c.1590A>G (p.Pro530=)
c.1260A>G (p.Pro420=)
c.1605A>G (p.Pro535=)
c.1842A>G (p.Pro614=)
c.1794A>G (p.Pro598=)
c.1653A>G (p.Pro551=)
c.1638A>G (p.Pro546=)
c.1497A>G (p.Pro499=)
c.1308A>G (p.Pro436=)
c.1293A>G (p.Pro431=)
c.798A>G (p.Pro266=)
c.609A>G (p.Pro203=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716685A>TCA470376249LDB3n.515-2042A>T
c.1401A>T (p.Pro467=)
c.1449A>T (p.Pro483=)
c.1590A>T (p.Pro530=)
c.1260A>T (p.Pro420=)
c.1605A>T (p.Pro535=)
c.1842A>T (p.Pro614=)
c.1794A>T (p.Pro598=)
c.1653A>T (p.Pro551=)
c.1638A>T (p.Pro546=)
c.1497A>T (p.Pro499=)
c.1308A>T (p.Pro436=)
c.1293A>T (p.Pro431=)
c.798A>T (p.Pro266=)
c.609A>T (p.Pro203=)
10g.86716686C>ACA377451439LDB3n.515-2041C>A
c.1402C>A (p.Leu468Ile)
c.1450C>A (p.Leu484Ile)
c.1591C>A (p.Leu531Ile)
c.1261C>A (p.Leu421Ile)
c.1606C>A (p.Leu536Ile)
c.1843C>A (p.Leu615Ile)
c.1795C>A (p.Leu599Ile)
c.1654C>A (p.Leu552Ile)
c.1639C>A (p.Leu547Ile)
c.1498C>A (p.Leu500Ile)
c.1309C>A (p.Leu437Ile)
c.1294C>A (p.Leu432Ile)
c.799C>A (p.Leu267Ile)
c.610C>A (p.Leu204Ile)
 gnomAD v4
10g.86716686C>GCA377451440LDB3n.515-2041C>G
c.1402C>G (p.Leu468Val)
c.1450C>G (p.Leu484Val)
c.1591C>G (p.Leu531Val)
c.1261C>G (p.Leu421Val)
c.1606C>G (p.Leu536Val)
c.1843C>G (p.Leu615Val)
c.1795C>G (p.Leu599Val)
c.1654C>G (p.Leu552Val)
c.1639C>G (p.Leu547Val)
c.1498C>G (p.Leu500Val)
c.1309C>G (p.Leu437Val)
c.1294C>G (p.Leu432Val)
c.799C>G (p.Leu267Val)
c.610C>G (p.Leu204Val)
 ClinVar dbSNP gnomAD v4
10g.86716686C>TCA377451441LDB3n.515-2041C>T
c.1402C>T (p.Leu468Phe)
c.1450C>T (p.Leu484Phe)
c.1591C>T (p.Leu531Phe)
c.1261C>T (p.Leu421Phe)
c.1606C>T (p.Leu536Phe)
c.1843C>T (p.Leu615Phe)
c.1795C>T (p.Leu599Phe)
c.1654C>T (p.Leu552Phe)
c.1639C>T (p.Leu547Phe)
c.1498C>T (p.Leu500Phe)
c.1309C>T (p.Leu437Phe)
c.1294C>T (p.Leu432Phe)
c.799C>T (p.Leu267Phe)
c.610C>T (p.Leu204Phe)
10g.86716687T>ACA377451442LDB3n.515-2040T>A
c.1403T>A (p.Leu468His)
c.1451T>A (p.Leu484His)
c.1592T>A (p.Leu531His)
c.1262T>A (p.Leu421His)
c.1607T>A (p.Leu536His)
c.1844T>A (p.Leu615His)
c.1796T>A (p.Leu599His)
c.1655T>A (p.Leu552His)
c.1640T>A (p.Leu547His)
c.1499T>A (p.Leu500His)
c.1310T>A (p.Leu437His)
c.1295T>A (p.Leu432His)
c.800T>A (p.Leu267His)
c.611T>A (p.Leu204His)
10g.86716687T>CCA377451443LDB3n.515-2040T>C
c.1403T>C (p.Leu468Pro)
c.1451T>C (p.Leu484Pro)
c.1592T>C (p.Leu531Pro)
c.1262T>C (p.Leu421Pro)
c.1607T>C (p.Leu536Pro)
c.1844T>C (p.Leu615Pro)
c.1796T>C (p.Leu599Pro)
c.1655T>C (p.Leu552Pro)
c.1640T>C (p.Leu547Pro)
c.1499T>C (p.Leu500Pro)
c.1310T>C (p.Leu437Pro)
c.1295T>C (p.Leu432Pro)
c.800T>C (p.Leu267Pro)
c.611T>C (p.Leu204Pro)
10g.86716687T>GCA377451444LDB3n.515-2040T>G
c.1403T>G (p.Leu468Arg)
c.1451T>G (p.Leu484Arg)
c.1592T>G (p.Leu531Arg)
c.1262T>G (p.Leu421Arg)
c.1607T>G (p.Leu536Arg)
c.1844T>G (p.Leu615Arg)
c.1796T>G (p.Leu599Arg)
c.1655T>G (p.Leu552Arg)
c.1640T>G (p.Leu547Arg)
c.1499T>G (p.Leu500Arg)
c.1310T>G (p.Leu437Arg)
c.1295T>G (p.Leu432Arg)
c.800T>G (p.Leu267Arg)
c.611T>G (p.Leu204Arg)
10g.86716688T>ACA470376262LDB3n.515-2039T>A
c.1404T>A (p.Leu468=)
c.1452T>A (p.Leu484=)
c.1593T>A (p.Leu531=)
c.1263T>A (p.Leu421=)
c.1608T>A (p.Leu536=)
c.1845T>A (p.Leu615=)
c.1797T>A (p.Leu599=)
c.1656T>A (p.Leu552=)
c.1641T>A (p.Leu547=)
c.1500T>A (p.Leu500=)
c.1311T>A (p.Leu437=)
c.1296T>A (p.Leu432=)
c.801T>A (p.Leu267=)
c.612T>A (p.Leu204=)
 COSMIC COSMIC COSMIC
10g.86716688T>CCA470376263LDB3n.515-2039T>C
c.1404T>C (p.Leu468=)
c.1452T>C (p.Leu484=)
c.1593T>C (p.Leu531=)
c.1263T>C (p.Leu421=)
c.1608T>C (p.Leu536=)
c.1845T>C (p.Leu615=)
c.1797T>C (p.Leu599=)
c.1656T>C (p.Leu552=)
c.1641T>C (p.Leu547=)
c.1500T>C (p.Leu500=)
c.1311T>C (p.Leu437=)
c.1296T>C (p.Leu432=)
c.801T>C (p.Leu267=)
c.612T>C (p.Leu204=)
10g.86716688T>GCA470376265LDB3n.515-2039T>G
c.1404T>G (p.Leu468=)
c.1452T>G (p.Leu484=)
c.1593T>G (p.Leu531=)
c.1263T>G (p.Leu421=)
c.1608T>G (p.Leu536=)
c.1845T>G (p.Leu615=)
c.1797T>G (p.Leu599=)
c.1656T>G (p.Leu552=)
c.1641T>G (p.Leu547=)
c.1500T>G (p.Leu500=)
c.1311T>G (p.Leu437=)
c.1296T>G (p.Leu432=)
c.801T>G (p.Leu267=)
c.612T>G (p.Leu204=)
10g.86716689G>ACA377451446LDB3n.515-2038G>A
c.1405G>A (p.Ala469Thr)
c.1453G>A (p.Ala485Thr)
c.1594G>A (p.Ala532Thr)
c.1264G>A (p.Ala422Thr)
c.1609G>A (p.Ala537Thr)
c.1846G>A (p.Ala616Thr)
c.1798G>A (p.Ala600Thr)
c.1657G>A (p.Ala553Thr)
c.1642G>A (p.Ala548Thr)
c.1501G>A (p.Ala501Thr)
c.1312G>A (p.Ala438Thr)
c.1297G>A (p.Ala433Thr)
c.802G>A (p.Ala268Thr)
c.613G>A (p.Ala205Thr)
10g.86716689G>CCA308642LDB3n.515-2038G>C
c.1405G>C (p.Ala469Pro)
c.1453G>C (p.Ala485Pro)
c.1594G>C (p.Ala532Pro)
c.1264G>C (p.Ala422Pro)
c.1609G>C (p.Ala537Pro)
c.1846G>C (p.Ala616Pro)
c.1798G>C (p.Ala600Pro)
c.1657G>C (p.Ala553Pro)
c.1642G>C (p.Ala548Pro)
c.1501G>C (p.Ala501Pro)
c.1312G>C (p.Ala438Pro)
c.1297G>C (p.Ala433Pro)
c.802G>C (p.Ala268Pro)
c.613G>C (p.Ala205Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716689G=CA1925631993LDB3n.515-2038G=
c.1405G= (p.Ala469=)
c.1453G= (p.Ala485=)
c.1594G= (p.Ala532=)
c.1264G= (p.Ala422=)
c.1609G= (p.Ala537=)
c.1846G= (p.Ala616=)
c.1798G= (p.Ala600=)
c.1657G= (p.Ala553=)
c.1642G= (p.Ala548=)
c.1501G= (p.Ala501=)
c.1312G= (p.Ala438=)
c.1297G= (p.Ala433=)
c.802G= (p.Ala268=)
c.613G= (p.Ala205=)
10g.86716689G>TCA377451449LDB3n.515-2038G>T
c.1405G>T (p.Ala469Ser)
c.1453G>T (p.Ala485Ser)
c.1594G>T (p.Ala532Ser)
c.1264G>T (p.Ala422Ser)
c.1609G>T (p.Ala537Ser)
c.1846G>T (p.Ala616Ser)
c.1798G>T (p.Ala600Ser)
c.1657G>T (p.Ala553Ser)
c.1642G>T (p.Ala548Ser)
c.1501G>T (p.Ala501Ser)
c.1312G>T (p.Ala438Ser)
c.1297G>T (p.Ala433Ser)
c.802G>T (p.Ala268Ser)
c.613G>T (p.Ala205Ser)
10g.86716690C>ACA377451451LDB3n.515-2037C>A
c.1406C>A (p.Ala469Asp)
c.1454C>A (p.Ala485Asp)
c.1595C>A (p.Ala532Asp)
c.1265C>A (p.Ala422Asp)
c.1610C>A (p.Ala537Asp)
c.1847C>A (p.Ala616Asp)
c.1799C>A (p.Ala600Asp)
c.1658C>A (p.Ala553Asp)
c.1643C>A (p.Ala548Asp)
c.1502C>A (p.Ala501Asp)
c.1313C>A (p.Ala438Asp)
c.1298C>A (p.Ala433Asp)
c.803C>A (p.Ala268Asp)
c.614C>A (p.Ala205Asp)
10g.86716690C>GCA377451453LDB3n.515-2037C>G
c.1406C>G (p.Ala469Gly)
c.1454C>G (p.Ala485Gly)
c.1595C>G (p.Ala532Gly)
c.1265C>G (p.Ala422Gly)
c.1610C>G (p.Ala537Gly)
c.1847C>G (p.Ala616Gly)
c.1799C>G (p.Ala600Gly)
c.1658C>G (p.Ala553Gly)
c.1643C>G (p.Ala548Gly)
c.1502C>G (p.Ala501Gly)
c.1313C>G (p.Ala438Gly)
c.1298C>G (p.Ala433Gly)
c.803C>G (p.Ala268Gly)
c.614C>G (p.Ala205Gly)
10g.86716690C>TCA377451452LDB3n.515-2037C>T
c.1406C>T (p.Ala469Val)
c.1454C>T (p.Ala485Val)
c.1595C>T (p.Ala532Val)
c.1265C>T (p.Ala422Val)
c.1610C>T (p.Ala537Val)
c.1847C>T (p.Ala616Val)
c.1799C>T (p.Ala600Val)
c.1658C>T (p.Ala553Val)
c.1643C>T (p.Ala548Val)
c.1502C>T (p.Ala501Val)
c.1313C>T (p.Ala438Val)
c.1298C>T (p.Ala433Val)
c.803C>T (p.Ala268Val)
c.614C>T (p.Ala205Val)
10g.86716691C>ACA470376279LDB3n.515-2036C>A
c.1407C>A (p.Ala469=)
c.1455C>A (p.Ala485=)
c.1596C>A (p.Ala532=)
c.1266C>A (p.Ala422=)
c.1611C>A (p.Ala537=)
c.1848C>A (p.Ala616=)
c.1800C>A (p.Ala600=)
c.1659C>A (p.Ala553=)
c.1644C>A (p.Ala548=)
c.1503C>A (p.Ala501=)
c.1314C>A (p.Ala438=)
c.1299C>A (p.Ala433=)
c.804C>A (p.Ala268=)
c.615C>A (p.Ala205=)
10g.86716691C>GCA470376280LDB3n.515-2036C>G
c.1407C>G (p.Ala469=)
c.1455C>G (p.Ala485=)
c.1596C>G (p.Ala532=)
c.1266C>G (p.Ala422=)
c.1611C>G (p.Ala537=)
c.1848C>G (p.Ala616=)
c.1800C>G (p.Ala600=)
c.1659C>G (p.Ala553=)
c.1644C>G (p.Ala548=)
c.1503C>G (p.Ala501=)
c.1314C>G (p.Ala438=)
c.1299C>G (p.Ala433=)
c.804C>G (p.Ala268=)
c.615C>G (p.Ala205=)
10g.86716691C>TCA470376282LDB3n.515-2036C>T
c.1407C>T (p.Ala469=)
c.1455C>T (p.Ala485=)
c.1596C>T (p.Ala532=)
c.1266C>T (p.Ala422=)
c.1611C>T (p.Ala537=)
c.1848C>T (p.Ala616=)
c.1800C>T (p.Ala600=)
c.1659C>T (p.Ala553=)
c.1644C>T (p.Ala548=)
c.1503C>T (p.Ala501=)
c.1314C>T (p.Ala438=)
c.1299C>T (p.Ala433=)
c.804C>T (p.Ala268=)
c.615C>T (p.Ala205=)
10g.86716692delCA2580615532LDB3n.515-2035del
c.1408del (p.Arg470GlyfsTer?)
c.1456del (p.Arg486GlyfsTer?)
c.1597del (p.Arg533GlyfsTer?)
c.1267del (p.Arg423GlyfsTer?)
c.1612del (p.Arg538GlyfsTer?)
c.1849del (p.Arg617GlyfsTer?)
c.1801del (p.Arg601GlyfsTer?)
c.1660del (p.Arg554GlyfsTer?)
c.1645del (p.Arg549GlyfsTer?)
c.1504del (p.Arg502GlyfsTer?)
c.1315del (p.Arg439GlyfsTer?)
c.1300del (p.Arg434GlyfsTer?)
c.805del (p.Arg269GlyfsTer?)
c.616del (p.Arg206GlyfsTer?)
 ClinVar gnomAD v4
10g.86716692A=CA1925631994LDB3n.515-2035A=
c.1408A= (p.Arg470=)
c.1456A= (p.Arg486=)
c.1597A= (p.Arg533=)
c.1267A= (p.Arg423=)
c.1612A= (p.Arg538=)
c.1849A= (p.Arg617=)
c.1801A= (p.Arg601=)
c.1660A= (p.Arg554=)
c.1645A= (p.Arg549=)
c.1504A= (p.Arg502=)
c.1315A= (p.Arg439=)
c.1300A= (p.Arg434=)
c.805A= (p.Arg269=)
c.616A= (p.Arg206=)
10g.86716692A>CCA470376287LDB3n.515-2035A>C
c.1408A>C (p.Arg470=)
c.1456A>C (p.Arg486=)
c.1597A>C (p.Arg533=)
c.1267A>C (p.Arg423=)
c.1612A>C (p.Arg538=)
c.1849A>C (p.Arg617=)
c.1801A>C (p.Arg601=)
c.1660A>C (p.Arg554=)
c.1645A>C (p.Arg549=)
c.1504A>C (p.Arg502=)
c.1315A>C (p.Arg439=)
c.1300A>C (p.Arg434=)
c.805A>C (p.Arg269=)
c.616A>C (p.Arg206=)
10g.86716692A>GCA377451454LDB3n.515-2035A>G
c.1408A>G (p.Arg470Gly)
c.1456A>G (p.Arg486Gly)
c.1597A>G (p.Arg533Gly)
c.1267A>G (p.Arg423Gly)
c.1612A>G (p.Arg538Gly)
c.1849A>G (p.Arg617Gly)
c.1801A>G (p.Arg601Gly)
c.1660A>G (p.Arg554Gly)
c.1645A>G (p.Arg549Gly)
c.1504A>G (p.Arg502Gly)
c.1315A>G (p.Arg439Gly)
c.1300A>G (p.Arg434Gly)
c.805A>G (p.Arg269Gly)
c.616A>G (p.Arg206Gly)
10g.86716692A>TCA377451455LDB3n.515-2035A>T
c.1408A>T (p.Arg470Trp)
c.1456A>T (p.Arg486Trp)
c.1597A>T (p.Arg533Trp)
c.1267A>T (p.Arg423Trp)
c.1612A>T (p.Arg538Trp)
c.1849A>T (p.Arg617Trp)
c.1801A>T (p.Arg601Trp)
c.1660A>T (p.Arg554Trp)
c.1645A>T (p.Arg549Trp)
c.1504A>T (p.Arg502Trp)
c.1315A>T (p.Arg439Trp)
c.1300A>T (p.Arg434Trp)
c.805A>T (p.Arg269Trp)
c.616A>T (p.Arg206Trp)
10g.86716693G>ACA377451456LDB3n.515-2034G>A
c.1409G>A (p.Arg470Lys)
c.1457G>A (p.Arg486Lys)
c.1598G>A (p.Arg533Lys)
c.1268G>A (p.Arg423Lys)
c.1613G>A (p.Arg538Lys)
c.1850G>A (p.Arg617Lys)
c.1802G>A (p.Arg601Lys)
c.1661G>A (p.Arg554Lys)
c.1646G>A (p.Arg549Lys)
c.1505G>A (p.Arg502Lys)
c.1316G>A (p.Arg439Lys)
c.1301G>A (p.Arg434Lys)
c.806G>A (p.Arg269Lys)
c.617G>A (p.Arg206Lys)
 COSMIC
10g.86716693G>CCA377451457LDB3n.515-2034G>C
c.1409G>C (p.Arg470Thr)
c.1457G>C (p.Arg486Thr)
c.1598G>C (p.Arg533Thr)
c.1268G>C (p.Arg423Thr)
c.1613G>C (p.Arg538Thr)
c.1850G>C (p.Arg617Thr)
c.1802G>C (p.Arg601Thr)
c.1661G>C (p.Arg554Thr)
c.1646G>C (p.Arg549Thr)
c.1505G>C (p.Arg502Thr)
c.1316G>C (p.Arg439Thr)
c.1301G>C (p.Arg434Thr)
c.806G>C (p.Arg269Thr)
c.617G>C (p.Arg206Thr)
10g.86716693G>TCA377451458LDB3n.515-2034G>T
c.1409G>T (p.Arg470Met)
c.1457G>T (p.Arg486Met)
c.1598G>T (p.Arg533Met)
c.1268G>T (p.Arg423Met)
c.1613G>T (p.Arg538Met)
c.1850G>T (p.Arg617Met)
c.1802G>T (p.Arg601Met)
c.1661G>T (p.Arg554Met)
c.1646G>T (p.Arg549Met)
c.1505G>T (p.Arg502Met)
c.1316G>T (p.Arg439Met)
c.1301G>T (p.Arg434Met)
c.806G>T (p.Arg269Met)
c.617G>T (p.Arg206Met)
 gnomAD v4
10g.86716696_86716697dupCA912970482LDB3n.515-2031_515-2030dup
c.1412_1413dup (p.Thr472GlyfsTer?)
c.1460_1461dup (p.Thr488GlyfsTer?)
c.1601_1602dup (p.Thr535GlyfsTer?)
c.1271_1272dup (p.Thr425GlyfsTer?)
c.1616_1617dup (p.Thr540GlyfsTer?)
c.1853_1854dup (p.Thr619GlyfsTer?)
c.1805_1806dup (p.Thr603GlyfsTer?)
c.1664_1665dup (p.Thr556GlyfsTer?)
c.1649_1650dup (p.Thr551GlyfsTer?)
c.1508_1509dup (p.Thr504GlyfsTer?)
c.1319_1320dup (p.Thr441GlyfsTer?)
c.1304_1305dup (p.Thr436GlyfsTer?)
c.809_810dup (p.Thr271GlyfsTer?)
c.620_621dup (p.Thr208GlyfsTer?)
 ClinVar dbSNP
10g.86716694G>ACA470376298LDB3n.515-2033G>A
c.1410G>A (p.Arg470=)
c.1458G>A (p.Arg486=)
c.1599G>A (p.Arg533=)
c.1269G>A (p.Arg423=)
c.1614G>A (p.Arg538=)
c.1851G>A (p.Arg617=)
c.1803G>A (p.Arg601=)
c.1662G>A (p.Arg554=)
c.1647G>A (p.Arg549=)
c.1506G>A (p.Arg502=)
c.1317G>A (p.Arg439=)
c.1302G>A (p.Arg434=)
c.807G>A (p.Arg269=)
c.618G>A (p.Arg206=)
 gnomAD v4
10g.86716694G>CCA377451459LDB3n.515-2033G>C
c.1410G>C (p.Arg470Ser)
c.1458G>C (p.Arg486Ser)
c.1599G>C (p.Arg533Ser)
c.1269G>C (p.Arg423Ser)
c.1614G>C (p.Arg538Ser)
c.1851G>C (p.Arg617Ser)
c.1803G>C (p.Arg601Ser)
c.1662G>C (p.Arg554Ser)
c.1647G>C (p.Arg549Ser)
c.1506G>C (p.Arg502Ser)
c.1317G>C (p.Arg439Ser)
c.1302G>C (p.Arg434Ser)
c.807G>C (p.Arg269Ser)
c.618G>C (p.Arg206Ser)
 ClinVar dbSNP
10g.86716694G=CA1925631995LDB3n.515-2033G=
c.1410G= (p.Arg470=)
c.1458G= (p.Arg486=)
c.1599G= (p.Arg533=)
c.1269G= (p.Arg423=)
c.1614G= (p.Arg538=)
c.1851G= (p.Arg617=)
c.1803G= (p.Arg601=)
c.1662G= (p.Arg554=)
c.1647G= (p.Arg549=)
c.1506G= (p.Arg502=)
c.1317G= (p.Arg439=)
c.1302G= (p.Arg434=)
c.807G= (p.Arg269=)
c.618G= (p.Arg206=)
10g.86716694G>TCA377451461LDB3n.515-2033G>T
c.1410G>T (p.Arg470Ser)
c.1458G>T (p.Arg486Ser)
c.1599G>T (p.Arg533Ser)
c.1269G>T (p.Arg423Ser)
c.1614G>T (p.Arg538Ser)
c.1851G>T (p.Arg617Ser)
c.1803G>T (p.Arg601Ser)
c.1662G>T (p.Arg554Ser)
c.1647G>T (p.Arg549Ser)
c.1506G>T (p.Arg502Ser)
c.1317G>T (p.Arg439Ser)
c.1302G>T (p.Arg434Ser)
c.807G>T (p.Arg269Ser)
c.618G>T (p.Arg206Ser)
10g.86716695G>ACA377451463LDB3n.515-2032G>A
c.1411G>A (p.Gly471Arg)
c.1459G>A (p.Gly487Arg)
c.1600G>A (p.Gly534Arg)
c.1270G>A (p.Gly424Arg)
c.1615G>A (p.Gly539Arg)
c.1852G>A (p.Gly618Arg)
c.1804G>A (p.Gly602Arg)
c.1663G>A (p.Gly555Arg)
c.1648G>A (p.Gly550Arg)
c.1507G>A (p.Gly503Arg)
c.1318G>A (p.Gly440Arg)
c.1303G>A (p.Gly435Arg)
c.808G>A (p.Gly270Arg)
c.619G>A (p.Gly207Arg)
10g.86716695G>CCA377451464LDB3n.515-2032G>C
c.1411G>C (p.Gly471Arg)
c.1459G>C (p.Gly487Arg)
c.1600G>C (p.Gly534Arg)
c.1270G>C (p.Gly424Arg)
c.1615G>C (p.Gly539Arg)
c.1852G>C (p.Gly618Arg)
c.1804G>C (p.Gly602Arg)
c.1663G>C (p.Gly555Arg)
c.1648G>C (p.Gly550Arg)
c.1507G>C (p.Gly503Arg)
c.1318G>C (p.Gly440Arg)
c.1303G>C (p.Gly435Arg)
c.808G>C (p.Gly270Arg)
c.619G>C (p.Gly207Arg)
10g.86716695G>TCA377451466LDB3n.515-2032G>T
c.1411G>T (p.Gly471Trp)
c.1459G>T (p.Gly487Trp)
c.1600G>T (p.Gly534Trp)
c.1270G>T (p.Gly424Trp)
c.1615G>T (p.Gly539Trp)
c.1852G>T (p.Gly618Trp)
c.1804G>T (p.Gly602Trp)
c.1663G>T (p.Gly555Trp)
c.1648G>T (p.Gly550Trp)
c.1507G>T (p.Gly503Trp)
c.1318G>T (p.Gly440Trp)
c.1303G>T (p.Gly435Trp)
c.808G>T (p.Gly270Trp)
c.619G>T (p.Gly207Trp)
10g.86716696G>ACA377451559LDB3n.515-2031G>A
c.1412G>A (p.Gly471Glu)
c.1460G>A (p.Gly487Glu)
c.1601G>A (p.Gly534Glu)
c.1271G>A (p.Gly424Glu)
c.1616G>A (p.Gly539Glu)
c.1853G>A (p.Gly618Glu)
c.1805G>A (p.Gly602Glu)
c.1664G>A (p.Gly555Glu)
c.1649G>A (p.Gly550Glu)
c.1508G>A (p.Gly503Glu)
c.1319G>A (p.Gly440Glu)
c.1304G>A (p.Gly435Glu)
c.809G>A (p.Gly270Glu)
c.620G>A (p.Gly207Glu)
10g.86716696G>CCA377451560LDB3n.515-2031G>C
c.1412G>C (p.Gly471Ala)
c.1460G>C (p.Gly487Ala)
c.1601G>C (p.Gly534Ala)
c.1271G>C (p.Gly424Ala)
c.1616G>C (p.Gly539Ala)
c.1853G>C (p.Gly618Ala)
c.1805G>C (p.Gly602Ala)
c.1664G>C (p.Gly555Ala)
c.1649G>C (p.Gly550Ala)
c.1508G>C (p.Gly503Ala)
c.1319G>C (p.Gly440Ala)
c.1304G>C (p.Gly435Ala)
c.809G>C (p.Gly270Ala)
c.620G>C (p.Gly207Ala)
10g.86716696G=CA1925631996LDB3n.515-2031G=
c.1412G= (p.Gly471=)
c.1460G= (p.Gly487=)
c.1601G= (p.Gly534=)
c.1271G= (p.Gly424=)
c.1616G= (p.Gly539=)
c.1853G= (p.Gly618=)
c.1805G= (p.Gly602=)
c.1664G= (p.Gly555=)
c.1649G= (p.Gly550=)
c.1508G= (p.Gly503=)
c.1319G= (p.Gly440=)
c.1304G= (p.Gly435=)
c.809G= (p.Gly270=)
c.620G= (p.Gly207=)
10g.86716696G>TCA5585190LDB3n.515-2031G>T
c.1412G>T (p.Gly471Val)
c.1460G>T (p.Gly487Val)
c.1601G>T (p.Gly534Val)
c.1271G>T (p.Gly424Val)
c.1616G>T (p.Gly539Val)
c.1853G>T (p.Gly618Val)
c.1805G>T (p.Gly602Val)
c.1664G>T (p.Gly555Val)
c.1649G>T (p.Gly550Val)
c.1508G>T (p.Gly503Val)
c.1319G>T (p.Gly440Val)
c.1304G>T (p.Gly435Val)
c.809G>T (p.Gly270Val)
c.620G>T (p.Gly207Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716697G>ACA211208124LDB3n.515-2030G>A
c.1413G>A (p.Gly471=)
c.1461G>A (p.Gly487=)
c.1602G>A (p.Gly534=)
c.1272G>A (p.Gly424=)
c.1617G>A (p.Gly539=)
c.1854G>A (p.Gly618=)
c.1806G>A (p.Gly602=)
c.1665G>A (p.Gly555=)
c.1650G>A (p.Gly550=)
c.1509G>A (p.Gly503=)
c.1320G>A (p.Gly440=)
c.1305G>A (p.Gly435=)
c.810G>A (p.Gly270=)
c.621G>A (p.Gly207=)
 dbSNP
10g.86716697G>CCA470308297LDB3n.515-2030G>C
c.1413G>C (p.Gly471=)
c.1461G>C (p.Gly487=)
c.1602G>C (p.Gly534=)
c.1272G>C (p.Gly424=)
c.1617G>C (p.Gly539=)
c.1854G>C (p.Gly618=)
c.1806G>C (p.Gly602=)
c.1665G>C (p.Gly555=)
c.1650G>C (p.Gly550=)
c.1509G>C (p.Gly503=)
c.1320G>C (p.Gly440=)
c.1305G>C (p.Gly435=)
c.810G>C (p.Gly270=)
c.621G>C (p.Gly207=)
10g.86716697G=CA1925631997LDB3n.515-2030G=
c.1413G= (p.Gly471=)
c.1461G= (p.Gly487=)
c.1602G= (p.Gly534=)
c.1272G= (p.Gly424=)
c.1617G= (p.Gly539=)
c.1854G= (p.Gly618=)
c.1806G= (p.Gly602=)
c.1665G= (p.Gly555=)
c.1650G= (p.Gly550=)
c.1509G= (p.Gly503=)
c.1320G= (p.Gly440=)
c.1305G= (p.Gly435=)
c.810G= (p.Gly270=)
c.621G= (p.Gly207=)
10g.86716697G>TCA5585191LDB3n.515-2030G>T
c.1413G>T (p.Gly471=)
c.1461G>T (p.Gly487=)
c.1602G>T (p.Gly534=)
c.1272G>T (p.Gly424=)
c.1617G>T (p.Gly539=)
c.1854G>T (p.Gly618=)
c.1806G>T (p.Gly602=)
c.1665G>T (p.Gly555=)
c.1650G>T (p.Gly550=)
c.1509G>T (p.Gly503=)
c.1320G>T (p.Gly440=)
c.1305G>T (p.Gly435=)
c.810G>T (p.Gly270=)
c.621G>T (p.Gly207=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716697_86716700delinsGACCCA1925631998LDB3n.515-2030_515-2027delinsGACC
c.1413_1416delinsGACC (p.Gly471=)
c.1461_1464delinsGACC (p.Gly487=)
c.1602_1605delinsGACC (p.Gly534=)
c.1272_1275delinsGACC (p.Gly424=)
c.1617_1620delinsGACC (p.Gly539=)
c.1854_1857delinsGACC (p.Gly618=)
c.1806_1809delinsGACC (p.Gly602=)
c.1665_1668delinsGACC (p.Gly555=)
c.1650_1653delinsGACC (p.Gly550=)
c.1509_1512delinsGACC (p.Gly503=)
c.1320_1323delinsGACC (p.Gly440=)
c.1305_1308delinsGACC (p.Gly435=)
c.810_813delinsGACC (p.Gly270=)
c.621_624delinsGACC (p.Gly207=)
10g.86716697_86716698insTGCCCA470308299LDB3n.515-2030_515-2029insTGCC
c.1413_1414insTGCC (p.Thr472CysfsTer7)
c.1461_1462insTGCC (p.Thr488CysfsTer7)
c.1602_1603insTGCC (p.Thr535CysfsTer7)
c.1272_1273insTGCC (p.Thr425CysfsTer7)
c.1617_1618insTGCC (p.Thr540CysfsTer7)
c.1854_1855insTGCC (p.Thr619CysfsTer7)
c.1806_1807insTGCC (p.Thr603CysfsTer7)
c.1665_1666insTGCC (p.Thr556CysfsTer7)
c.1650_1651insTGCC (p.Thr551CysfsTer7)
c.1509_1510insTGCC (p.Thr504CysfsTer7)
c.1320_1321insTGCC (p.Thr441CysfsTer7)
c.1305_1306insTGCC (p.Thr436CysfsTer7)
c.810_811insTGCC (p.Thr271CysfsTer7)
c.621_622insTGCC (p.Thr208CysfsTer7)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716697_86716698insTGCCACCA1925631999LDB3n.515-2030_515-2029insTGCCAC
c.1413_1414insTGCCAC (p.Gly471_Thr472insCysHis)
c.1461_1462insTGCCAC (p.Gly487_Thr488insCysHis)
c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
c.1272_1273insTGCCAC (p.Gly424_Thr425insCysHis)
c.1617_1618insTGCCAC (p.Gly539_Thr540insCysHis)
c.1854_1855insTGCCAC (p.Gly618_Thr619insCysHis)
c.1806_1807insTGCCAC (p.Gly602_Thr603insCysHis)
c.1665_1666insTGCCAC (p.Gly555_Thr556insCysHis)
c.1650_1651insTGCCAC (p.Gly550_Thr551insCysHis)
c.1509_1510insTGCCAC (p.Gly503_Thr504insCysHis)
c.1320_1321insTGCCAC (p.Gly440_Thr441insCysHis)
c.1305_1306insTGCCAC (p.Gly435_Thr436insCysHis)
c.810_811insTGCCAC (p.Gly270_Thr271insCysHis)
c.621_622insTGCCAC (p.Gly207_Thr208insCysHis)
 ClinVar dbSNP
10g.86716698A=CA1925632000LDB3n.515-2029A=
c.1414A= (p.Thr472=)
c.1462A= (p.Thr488=)
c.1603A= (p.Thr535=)
c.1273A= (p.Thr425=)
c.1618A= (p.Thr540=)
c.1855A= (p.Thr619=)
c.1807A= (p.Thr603=)
c.1666A= (p.Thr556=)
c.1651A= (p.Thr551=)
c.1510A= (p.Thr504=)
c.1321A= (p.Thr441=)
c.1306A= (p.Thr436=)
c.811A= (p.Thr271=)
c.622A= (p.Thr208=)
10g.86716698A>CCA377451561LDB3n.515-2029A>C
c.1414A>C (p.Thr472Pro)
c.1462A>C (p.Thr488Pro)
c.1603A>C (p.Thr535Pro)
c.1273A>C (p.Thr425Pro)
c.1618A>C (p.Thr540Pro)
c.1855A>C (p.Thr619Pro)
c.1807A>C (p.Thr603Pro)
c.1666A>C (p.Thr556Pro)
c.1651A>C (p.Thr551Pro)
c.1510A>C (p.Thr504Pro)
c.1321A>C (p.Thr441Pro)
c.1306A>C (p.Thr436Pro)
c.811A>C (p.Thr271Pro)
c.622A>C (p.Thr208Pro)
10g.86716698A>GCA377451562LDB3n.515-2029A>G
c.1414A>G (p.Thr472Ala)
c.1462A>G (p.Thr488Ala)
c.1603A>G (p.Thr535Ala)
c.1273A>G (p.Thr425Ala)
c.1618A>G (p.Thr540Ala)
c.1855A>G (p.Thr619Ala)
c.1807A>G (p.Thr603Ala)
c.1666A>G (p.Thr556Ala)
c.1651A>G (p.Thr551Ala)
c.1510A>G (p.Thr504Ala)
c.1321A>G (p.Thr441Ala)
c.1306A>G (p.Thr436Ala)
c.811A>G (p.Thr271Ala)
c.622A>G (p.Thr208Ala)
10g.86716698A>TCA377451563LDB3n.515-2029A>T
c.1414A>T (p.Thr472Ser)
c.1462A>T (p.Thr488Ser)
c.1603A>T (p.Thr535Ser)
c.1273A>T (p.Thr425Ser)
c.1618A>T (p.Thr540Ser)
c.1855A>T (p.Thr619Ser)
c.1807A>T (p.Thr603Ser)
c.1666A>T (p.Thr556Ser)
c.1651A>T (p.Thr551Ser)
c.1510A>T (p.Thr504Ser)
c.1321A>T (p.Thr441Ser)
c.1306A>T (p.Thr436Ser)
c.811A>T (p.Thr271Ser)
c.622A>T (p.Thr208Ser)
 dbSNP
10g.86716698_86716700delinsTGCCACTCACA915947521LDB3n.515-2029_515-2027delinsTGCCACTCA
c.1414_1416delinsTGCCACTCA (p.Thr472delinsCysHisSer)
c.1462_1464delinsTGCCACTCA (p.Thr488delinsCysHisSer)
c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)
c.1273_1275delinsTGCCACTCA (p.Thr425delinsCysHisSer)
c.1618_1620delinsTGCCACTCA (p.Thr540delinsCysHisSer)
c.1855_1857delinsTGCCACTCA (p.Thr619delinsCysHisSer)
c.1807_1809delinsTGCCACTCA (p.Thr603delinsCysHisSer)
c.1666_1668delinsTGCCACTCA (p.Thr556delinsCysHisSer)
c.1651_1653delinsTGCCACTCA (p.Thr551delinsCysHisSer)
c.1510_1512delinsTGCCACTCA (p.Thr504delinsCysHisSer)
c.1321_1323delinsTGCCACTCA (p.Thr441delinsCysHisSer)
c.1306_1308delinsTGCCACTCA (p.Thr436delinsCysHisSer)
c.811_813delinsTGCCACTCA (p.Thr271delinsCysHisSer)
c.622_624delinsTGCCACTCA (p.Thr208delinsCysHisSer)
 ClinVar dbSNP
10g.86716699C>ACA377451564LDB3n.515-2028C>A
c.1415C>A (p.Thr472Asn)
c.1463C>A (p.Thr488Asn)
c.1604C>A (p.Thr535Asn)
c.1274C>A (p.Thr425Asn)
c.1619C>A (p.Thr540Asn)
c.1856C>A (p.Thr619Asn)
c.1808C>A (p.Thr603Asn)
c.1667C>A (p.Thr556Asn)
c.1652C>A (p.Thr551Asn)
c.1511C>A (p.Thr504Asn)
c.1322C>A (p.Thr441Asn)
c.1307C>A (p.Thr436Asn)
c.812C>A (p.Thr271Asn)
c.623C>A (p.Thr208Asn)
 gnomAD v4
10g.86716699C=CA1925632001LDB3n.515-2028C=
c.1415C= (p.Thr472=)
c.1463C= (p.Thr488=)
c.1604C= (p.Thr535=)
c.1274C= (p.Thr425=)
c.1619C= (p.Thr540=)
c.1856C= (p.Thr619=)
c.1808C= (p.Thr603=)
c.1667C= (p.Thr556=)
c.1652C= (p.Thr551=)
c.1511C= (p.Thr504=)
c.1322C= (p.Thr441=)
c.1307C= (p.Thr436=)
c.812C= (p.Thr271=)
c.623C= (p.Thr208=)
10g.86716699C>GCA377451565LDB3n.515-2028C>G
c.1415C>G (p.Thr472Ser)
c.1463C>G (p.Thr488Ser)
c.1604C>G (p.Thr535Ser)
c.1274C>G (p.Thr425Ser)
c.1619C>G (p.Thr540Ser)
c.1856C>G (p.Thr619Ser)
c.1808C>G (p.Thr603Ser)
c.1667C>G (p.Thr556Ser)
c.1652C>G (p.Thr551Ser)
c.1511C>G (p.Thr504Ser)
c.1322C>G (p.Thr441Ser)
c.1307C>G (p.Thr436Ser)
c.812C>G (p.Thr271Ser)
c.623C>G (p.Thr208Ser)
 COSMIC COSMIC COSMIC
10g.86716699C>TCA377451566LDB3n.515-2028C>T
c.1415C>T (p.Thr472Ile)
c.1463C>T (p.Thr488Ile)
c.1604C>T (p.Thr535Ile)
c.1274C>T (p.Thr425Ile)
c.1619C>T (p.Thr540Ile)
c.1856C>T (p.Thr619Ile)
c.1808C>T (p.Thr603Ile)
c.1667C>T (p.Thr556Ile)
c.1652C>T (p.Thr551Ile)
c.1511C>T (p.Thr504Ile)
c.1322C>T (p.Thr441Ile)
c.1307C>T (p.Thr436Ile)
c.812C>T (p.Thr271Ile)
c.623C>T (p.Thr208Ile)
 ClinVar
10g.86716699_86716700insTCA470308300LDB3n.515-2028_515-2027insT
c.1415_1416insT (p.Val473ArgfsTer5)
c.1463_1464insT (p.Val489ArgfsTer5)
c.1604_1605insT (p.Val536ArgfsTer5)
c.1274_1275insT (p.Val426ArgfsTer5)
c.1619_1620insT (p.Val541ArgfsTer5)
c.1856_1857insT (p.Val620ArgfsTer5)
c.1808_1809insT (p.Val604ArgfsTer5)
c.1667_1668insT (p.Val557ArgfsTer5)
c.1652_1653insT (p.Val552ArgfsTer5)
c.1511_1512insT (p.Val505ArgfsTer5)
c.1322_1323insT (p.Val442ArgfsTer5)
c.1307_1308insT (p.Val437ArgfsTer5)
c.812_813insT (p.Val272ArgfsTer5)
c.623_624insT (p.Val209ArgfsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716700C>ACA470308301LDB3n.515-2027C>A
c.1416C>A (p.Thr472=)
c.1464C>A (p.Thr488=)
c.1605C>A (p.Thr535=)
c.1275C>A (p.Thr425=)
c.1620C>A (p.Thr540=)
c.1857C>A (p.Thr619=)
c.1809C>A (p.Thr603=)
c.1668C>A (p.Thr556=)
c.1653C>A (p.Thr551=)
c.1512C>A (p.Thr504=)
c.1323C>A (p.Thr441=)
c.1308C>A (p.Thr436=)
c.813C>A (p.Thr271=)
c.624C>A (p.Thr208=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716700C=CA1925632002LDB3n.515-2027C=
c.1416C= (p.Thr472=)
c.1464C= (p.Thr488=)
c.1605C= (p.Thr535=)
c.1275C= (p.Thr425=)
c.1620C= (p.Thr540=)
c.1857C= (p.Thr619=)
c.1809C= (p.Thr603=)
c.1668C= (p.Thr556=)
c.1653C= (p.Thr551=)
c.1512C= (p.Thr504=)
c.1323C= (p.Thr441=)
c.1308C= (p.Thr436=)
c.813C= (p.Thr271=)
c.624C= (p.Thr208=)
10g.86716700C>GCA470308302LDB3n.515-2027C>G
c.1416C>G (p.Thr472=)
c.1464C>G (p.Thr488=)
c.1605C>G (p.Thr535=)
c.1275C>G (p.Thr425=)
c.1620C>G (p.Thr540=)
c.1857C>G (p.Thr619=)
c.1809C>G (p.Thr603=)
c.1668C>G (p.Thr556=)
c.1653C>G (p.Thr551=)
c.1512C>G (p.Thr504=)
c.1323C>G (p.Thr441=)
c.1308C>G (p.Thr436=)
c.813C>G (p.Thr271=)
c.624C>G (p.Thr208=)
10g.86716700C>TCA185387LDB3n.515-2027C>T
c.1416C>T (p.Thr472=)
c.1464C>T (p.Thr488=)
c.1605C>T (p.Thr535=)
c.1275C>T (p.Thr425=)
c.1620C>T (p.Thr540=)
c.1857C>T (p.Thr619=)
c.1809C>T (p.Thr603=)
c.1668C>T (p.Thr556=)
c.1653C>T (p.Thr551=)
c.1512C>T (p.Thr504=)
c.1323C>T (p.Thr441=)
c.1308C>T (p.Thr436=)
c.813C>T (p.Thr271=)
c.624C>T (p.Thr208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716700_86716701insACA470308305LDB3n.515-2027_515-2026insA
c.1416_1417insA (p.Val473SerfsTer5)
c.1464_1465insA (p.Val489SerfsTer5)
c.1605_1606insA (p.Val536SerfsTer5)
c.1275_1276insA (p.Val426SerfsTer5)
c.1620_1621insA (p.Val541SerfsTer5)
c.1857_1858insA (p.Val620SerfsTer5)
c.1809_1810insA (p.Val604SerfsTer5)
c.1668_1669insA (p.Val557SerfsTer5)
c.1653_1654insA (p.Val552SerfsTer5)
c.1512_1513insA (p.Val505SerfsTer5)
c.1323_1324insA (p.Val442SerfsTer5)
c.1308_1309insA (p.Val437SerfsTer5)
c.813_814insA (p.Val272SerfsTer5)
c.624_625insA (p.Val209SerfsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716701G>ACA5585192LDB3n.515-2026G>A
c.1417G>A (p.Val473Ile)
c.1465G>A (p.Val489Ile)
c.1606G>A (p.Val536Ile)
c.1276G>A (p.Val426Ile)
c.1621G>A (p.Val541Ile)
c.1858G>A (p.Val620Ile)
c.1810G>A (p.Val604Ile)
c.1669G>A (p.Val557Ile)
c.1654G>A (p.Val552Ile)
c.1513G>A (p.Val505Ile)
c.1324G>A (p.Val442Ile)
c.1309G>A (p.Val437Ile)
c.814G>A (p.Val272Ile)
c.625G>A (p.Val209Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716701G>CCA377451567LDB3n.515-2026G>C
c.1417G>C (p.Val473Leu)
c.1465G>C (p.Val489Leu)
c.1606G>C (p.Val536Leu)
c.1276G>C (p.Val426Leu)
c.1621G>C (p.Val541Leu)
c.1858G>C (p.Val620Leu)
c.1810G>C (p.Val604Leu)
c.1669G>C (p.Val557Leu)
c.1654G>C (p.Val552Leu)
c.1513G>C (p.Val505Leu)
c.1324G>C (p.Val442Leu)
c.1309G>C (p.Val437Leu)
c.814G>C (p.Val272Leu)
c.625G>C (p.Val209Leu)
10g.86716701G=CA1925632003LDB3n.515-2026G=
c.1417G= (p.Val473=)
c.1465G= (p.Val489=)
c.1606G= (p.Val536=)
c.1276G= (p.Val426=)
c.1621G= (p.Val541=)
c.1858G= (p.Val620=)
c.1810G= (p.Val604=)
c.1669G= (p.Val557=)
c.1654G= (p.Val552=)
c.1513G= (p.Val505=)
c.1324G= (p.Val442=)
c.1309G= (p.Val437=)
c.814G= (p.Val272=)
c.625G= (p.Val209=)
10g.86716701G>TCA377451568LDB3n.515-2026G>T
c.1417G>T (p.Val473Phe)
c.1465G>T (p.Val489Phe)
c.1606G>T (p.Val536Phe)
c.1276G>T (p.Val426Phe)
c.1621G>T (p.Val541Phe)
c.1858G>T (p.Val620Phe)
c.1810G>T (p.Val604Phe)
c.1669G>T (p.Val557Phe)
c.1654G>T (p.Val552Phe)
c.1513G>T (p.Val505Phe)
c.1324G>T (p.Val442Phe)
c.1309G>T (p.Val437Phe)
c.814G>T (p.Val272Phe)
c.625G>T (p.Val209Phe)
 gnomAD v4
10g.86716702T>ACA377451569LDB3n.515-2025T>A
c.1418T>A (p.Val473Asp)
c.1466T>A (p.Val489Asp)
c.1607T>A (p.Val536Asp)
c.1277T>A (p.Val426Asp)
c.1622T>A (p.Val541Asp)
c.1859T>A (p.Val620Asp)
c.1811T>A (p.Val604Asp)
c.1670T>A (p.Val557Asp)
c.1655T>A (p.Val552Asp)
c.1514T>A (p.Val505Asp)
c.1325T>A (p.Val442Asp)
c.1310T>A (p.Val437Asp)
c.815T>A (p.Val272Asp)
c.626T>A (p.Val209Asp)
 dbSNP
10g.86716702T>CCA176554LDB3n.515-2025T>C
c.1418T>C (p.Val473Ala)
c.1466T>C (p.Val489Ala)
c.1607T>C (p.Val536Ala)
c.1277T>C (p.Val426Ala)
c.1622T>C (p.Val541Ala)
c.1859T>C (p.Val620Ala)
c.1811T>C (p.Val604Ala)
c.1670T>C (p.Val557Ala)
c.1655T>C (p.Val552Ala)
c.1514T>C (p.Val505Ala)
c.1325T>C (p.Val442Ala)
c.1310T>C (p.Val437Ala)
c.815T>C (p.Val272Ala)
c.626T>C (p.Val209Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716702T>GCA377451570LDB3n.515-2025T>G
c.1418T>G (p.Val473Gly)
c.1466T>G (p.Val489Gly)
c.1607T>G (p.Val536Gly)
c.1277T>G (p.Val426Gly)
c.1622T>G (p.Val541Gly)
c.1859T>G (p.Val620Gly)
c.1811T>G (p.Val604Gly)
c.1670T>G (p.Val557Gly)
c.1655T>G (p.Val552Gly)
c.1514T>G (p.Val505Gly)
c.1325T>G (p.Val442Gly)
c.1310T>G (p.Val437Gly)
c.815T>G (p.Val272Gly)
c.626T>G (p.Val209Gly)
10g.86716702T=CA1925632005LDB3n.515-2025T=
c.1418T= (p.Val473=)
c.1466T= (p.Val489=)
c.1607T= (p.Val536=)
c.1277T= (p.Val426=)
c.1622T= (p.Val541=)
c.1859T= (p.Val620=)
c.1811T= (p.Val604=)
c.1670T= (p.Val557=)
c.1655T= (p.Val552=)
c.1514T= (p.Val505=)
c.1325T= (p.Val442=)
c.1310T= (p.Val437=)
c.815T= (p.Val272=)
c.626T= (p.Val209=)
10g.86716702_86716703delinsTCCA1925632004LDB3n.515-2025_515-2024delinsTC
c.1418_1419delinsTC (p.Val473=)
c.1466_1467delinsTC (p.Val489=)
c.1607_1608delinsTC (p.Val536=)
c.1277_1278delinsTC (p.Val426=)
c.1622_1623delinsTC (p.Val541=)
c.1859_1860delinsTC (p.Val620=)
c.1811_1812delinsTC (p.Val604=)
c.1670_1671delinsTC (p.Val557=)
c.1655_1656delinsTC (p.Val552=)
c.1514_1515delinsTC (p.Val505=)
c.1325_1326delinsTC (p.Val442=)
c.1310_1311delinsTC (p.Val437=)
c.815_816delinsTC (p.Val272=)
c.626_627delinsTC (p.Val209=)
10g.86716703C>ACA211208160LDB3n.515-2024C>A
c.1419C>A (p.Val473=)
c.1467C>A (p.Val489=)
c.1608C>A (p.Val536=)
c.1278C>A (p.Val426=)
c.1623C>A (p.Val541=)
c.1860C>A (p.Val620=)
c.1812C>A (p.Val604=)
c.1671C>A (p.Val557=)
c.1656C>A (p.Val552=)
c.1515C>A (p.Val505=)
c.1326C>A (p.Val442=)
c.1311C>A (p.Val437=)
c.816C>A (p.Val272=)
c.627C>A (p.Val209=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716703C=CA1925632006LDB3n.515-2024C=
c.1419C= (p.Val473=)
c.1467C= (p.Val489=)
c.1608C= (p.Val536=)
c.1278C= (p.Val426=)
c.1623C= (p.Val541=)
c.1860C= (p.Val620=)
c.1812C= (p.Val604=)
c.1671C= (p.Val557=)
c.1656C= (p.Val552=)
c.1515C= (p.Val505=)
c.1326C= (p.Val442=)
c.1311C= (p.Val437=)
c.816C= (p.Val272=)
c.627C= (p.Val209=)
10g.86716703C>GCA470308310LDB3n.515-2024C>G
c.1419C>G (p.Val473=)
c.1467C>G (p.Val489=)
c.1608C>G (p.Val536=)
c.1278C>G (p.Val426=)
c.1623C>G (p.Val541=)
c.1860C>G (p.Val620=)
c.1812C>G (p.Val604=)
c.1671C>G (p.Val557=)
c.1656C>G (p.Val552=)
c.1515C>G (p.Val505=)
c.1326C>G (p.Val442=)
c.1311C>G (p.Val437=)
c.816C>G (p.Val272=)
c.627C>G (p.Val209=)
10g.86716703C>TCA470308309LDB3n.515-2024C>T
c.1419C>T (p.Val473=)
c.1467C>T (p.Val489=)
c.1608C>T (p.Val536=)
c.1278C>T (p.Val426=)
c.1623C>T (p.Val541=)
c.1860C>T (p.Val620=)
c.1812C>T (p.Val604=)
c.1671C>T (p.Val557=)
c.1656C>T (p.Val552=)
c.1515C>T (p.Val505=)
c.1326C>T (p.Val442=)
c.1311C>T (p.Val437=)
c.816C>T (p.Val272=)
c.627C>T (p.Val209=)
10g.86716704delCA176557LDB3n.515-2023del
c.1420del (p.Gln474ArgfsTer28)
c.1468del (p.Gln490ArgfsTer28)
c.1609del (p.Gln537ArgfsTer28)
c.1279del (p.Gln427ArgfsTer28)
c.1624del (p.Gln542ArgfsTer28)
c.1861del (p.Gln621ArgfsTer28)
c.1813del (p.Gln605ArgfsTer28)
c.1672del (p.Gln558ArgfsTer28)
c.1657del (p.Gln553ArgfsTer28)
c.1516del (p.Gln506ArgfsTer28)
c.1327del (p.Gln443ArgfsTer28)
c.1312del (p.Gln438ArgfsTer28)
c.817del (p.Gln273ArgfsTer28)
c.628del (p.Gln210ArgfsTer28)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716704C>ACA377451571LDB3n.515-2023C>A
c.1420C>A (p.Gln474Lys)
c.1468C>A (p.Gln490Lys)
c.1609C>A (p.Gln537Lys)
c.1279C>A (p.Gln427Lys)
c.1624C>A (p.Gln542Lys)
c.1861C>A (p.Gln621Lys)
c.1813C>A (p.Gln605Lys)
c.1672C>A (p.Gln558Lys)
c.1657C>A (p.Gln553Lys)
c.1516C>A (p.Gln506Lys)
c.1327C>A (p.Gln443Lys)
c.1312C>A (p.Gln438Lys)
c.817C>A (p.Gln273Lys)
c.628C>A (p.Gln210Lys)
10g.86716704C>GCA377451573LDB3n.515-2023C>G
c.1420C>G (p.Gln474Glu)
c.1468C>G (p.Gln490Glu)
c.1609C>G (p.Gln537Glu)
c.1279C>G (p.Gln427Glu)
c.1624C>G (p.Gln542Glu)
c.1861C>G (p.Gln621Glu)
c.1813C>G (p.Gln605Glu)
c.1672C>G (p.Gln558Glu)
c.1657C>G (p.Gln553Glu)
c.1516C>G (p.Gln506Glu)
c.1327C>G (p.Gln443Glu)
c.1312C>G (p.Gln438Glu)
c.817C>G (p.Gln273Glu)
c.628C>G (p.Gln210Glu)
10g.86716704C>TCA377451572LDB3n.515-2023C>T
c.1420C>T (p.Gln474Ter)
c.1468C>T (p.Gln490Ter)
c.1609C>T (p.Gln537Ter)
c.1279C>T (p.Gln427Ter)
c.1624C>T (p.Gln542Ter)
c.1861C>T (p.Gln621Ter)
c.1813C>T (p.Gln605Ter)
c.1672C>T (p.Gln558Ter)
c.1657C>T (p.Gln553Ter)
c.1516C>T (p.Gln506Ter)
c.1327C>T (p.Gln443Ter)
c.1312C>T (p.Gln438Ter)
c.817C>T (p.Gln273Ter)
c.628C>T (p.Gln210Ter)
10g.86716705A>CCA377451574LDB3n.515-2022A>C
c.1421A>C (p.Gln474Pro)
c.1469A>C (p.Gln490Pro)
c.1610A>C (p.Gln537Pro)
c.1280A>C (p.Gln427Pro)
c.1625A>C (p.Gln542Pro)
c.1862A>C (p.Gln621Pro)
c.1814A>C (p.Gln605Pro)
c.1673A>C (p.Gln558Pro)
c.1658A>C (p.Gln553Pro)
c.1517A>C (p.Gln506Pro)
c.1328A>C (p.Gln443Pro)
c.1313A>C (p.Gln438Pro)
c.818A>C (p.Gln273Pro)
c.629A>C (p.Gln210Pro)
10g.86716705A>GCA377451575LDB3n.515-2022A>G
c.1421A>G (p.Gln474Arg)
c.1469A>G (p.Gln490Arg)
c.1610A>G (p.Gln537Arg)
c.1280A>G (p.Gln427Arg)
c.1625A>G (p.Gln542Arg)
c.1862A>G (p.Gln621Arg)
c.1814A>G (p.Gln605Arg)
c.1673A>G (p.Gln558Arg)
c.1658A>G (p.Gln553Arg)
c.1517A>G (p.Gln506Arg)
c.1328A>G (p.Gln443Arg)
c.1313A>G (p.Gln438Arg)
c.818A>G (p.Gln273Arg)
c.629A>G (p.Gln210Arg)
10g.86716705A>TCA377451576LDB3n.515-2022A>T
c.1421A>T (p.Gln474Leu)
c.1469A>T (p.Gln490Leu)
c.1610A>T (p.Gln537Leu)
c.1280A>T (p.Gln427Leu)
c.1625A>T (p.Gln542Leu)
c.1862A>T (p.Gln621Leu)
c.1814A>T (p.Gln605Leu)
c.1673A>T (p.Gln558Leu)
c.1658A>T (p.Gln553Leu)
c.1517A>T (p.Gln506Leu)
c.1328A>T (p.Gln443Leu)
c.1313A>T (p.Gln438Leu)
c.818A>T (p.Gln273Leu)
c.629A>T (p.Gln210Leu)
10g.86716706G>ACA470308315LDB3n.515-2021G>A
c.1422G>A (p.Gln474=)
c.1470G>A (p.Gln490=)
c.1611G>A (p.Gln537=)
c.1281G>A (p.Gln427=)
c.1626G>A (p.Gln542=)
c.1863G>A (p.Gln621=)
c.1815G>A (p.Gln605=)
c.1674G>A (p.Gln558=)
c.1659G>A (p.Gln553=)
c.1518G>A (p.Gln506=)
c.1329G>A (p.Gln443=)
c.1314G>A (p.Gln438=)
c.819G>A (p.Gln273=)
c.630G>A (p.Gln210=)
 ClinVar dbSNP gnomAD v4
10g.86716706G>CCA377451577LDB3n.515-2021G>C
c.1422G>C (p.Gln474His)
c.1470G>C (p.Gln490His)
c.1611G>C (p.Gln537His)
c.1281G>C (p.Gln427His)
c.1626G>C (p.Gln542His)
c.1863G>C (p.Gln621His)
c.1815G>C (p.Gln605His)
c.1674G>C (p.Gln558His)
c.1659G>C (p.Gln553His)
c.1518G>C (p.Gln506His)
c.1329G>C (p.Gln443His)
c.1314G>C (p.Gln438His)
c.819G>C (p.Gln273His)
c.630G>C (p.Gln210His)
 COSMIC COSMIC
10g.86716706G>TCA377451578LDB3n.515-2021G>T
c.1422G>T (p.Gln474His)
c.1470G>T (p.Gln490His)
c.1611G>T (p.Gln537His)
c.1281G>T (p.Gln427His)
c.1626G>T (p.Gln542His)
c.1863G>T (p.Gln621His)
c.1815G>T (p.Gln605His)
c.1674G>T (p.Gln558His)
c.1659G>T (p.Gln553His)
c.1518G>T (p.Gln506His)
c.1329G>T (p.Gln443His)
c.1314G>T (p.Gln438His)
c.819G>T (p.Gln273His)
c.630G>T (p.Gln210His)
10g.86716707A>CCA470308317LDB3n.515-2020A>C
c.1423A>C (p.Arg475=)
c.1471A>C (p.Arg491=)
c.1612A>C (p.Arg538=)
c.1282A>C (p.Arg428=)
c.1627A>C (p.Arg543=)
c.1864A>C (p.Arg622=)
c.1816A>C (p.Arg606=)
c.1675A>C (p.Arg559=)
c.1660A>C (p.Arg554=)
c.1519A>C (p.Arg507=)
c.1330A>C (p.Arg444=)
c.1315A>C (p.Arg439=)
c.820A>C (p.Arg274=)
c.631A>C (p.Arg211=)
10g.86716707A>GCA377451579LDB3n.515-2020A>G
c.1423A>G (p.Arg475Gly)
c.1471A>G (p.Arg491Gly)
c.1612A>G (p.Arg538Gly)
c.1282A>G (p.Arg428Gly)
c.1627A>G (p.Arg543Gly)
c.1864A>G (p.Arg622Gly)
c.1816A>G (p.Arg606Gly)
c.1675A>G (p.Arg559Gly)
c.1660A>G (p.Arg554Gly)
c.1519A>G (p.Arg507Gly)
c.1330A>G (p.Arg444Gly)
c.1315A>G (p.Arg439Gly)
c.820A>G (p.Arg274Gly)
c.631A>G (p.Arg211Gly)
10g.86716707A>TCA377451580LDB3n.515-2020A>T
c.1423A>T (p.Arg475Trp)
c.1471A>T (p.Arg491Trp)
c.1612A>T (p.Arg538Trp)
c.1282A>T (p.Arg428Trp)
c.1627A>T (p.Arg543Trp)
c.1864A>T (p.Arg622Trp)
c.1816A>T (p.Arg606Trp)
c.1675A>T (p.Arg559Trp)
c.1660A>T (p.Arg554Trp)
c.1519A>T (p.Arg507Trp)
c.1330A>T (p.Arg444Trp)
c.1315A>T (p.Arg439Trp)
c.820A>T (p.Arg274Trp)
c.631A>T (p.Arg211Trp)
10g.86716708G>ACA377451581LDB3n.515-2019G>A
c.1424G>A (p.Arg475Lys)
c.1472G>A (p.Arg491Lys)
c.1613G>A (p.Arg538Lys)
c.1283G>A (p.Arg428Lys)
c.1628G>A (p.Arg543Lys)
c.1865G>A (p.Arg622Lys)
c.1817G>A (p.Arg606Lys)
c.1676G>A (p.Arg559Lys)
c.1661G>A (p.Arg554Lys)
c.1520G>A (p.Arg507Lys)
c.1331G>A (p.Arg444Lys)
c.1316G>A (p.Arg439Lys)
c.821G>A (p.Arg274Lys)
c.632G>A (p.Arg211Lys)
 COSMIC COSMIC COSMIC
10g.86716708G>CCA377451582LDB3n.515-2019G>C
c.1424G>C (p.Arg475Thr)
c.1472G>C (p.Arg491Thr)
c.1613G>C (p.Arg538Thr)
c.1283G>C (p.Arg428Thr)
c.1628G>C (p.Arg543Thr)
c.1865G>C (p.Arg622Thr)
c.1817G>C (p.Arg606Thr)
c.1676G>C (p.Arg559Thr)
c.1661G>C (p.Arg554Thr)
c.1520G>C (p.Arg507Thr)
c.1331G>C (p.Arg444Thr)
c.1316G>C (p.Arg439Thr)
c.821G>C (p.Arg274Thr)
c.632G>C (p.Arg211Thr)
10g.86716708G>TCA377451583LDB3n.515-2019G>T
c.1424G>T (p.Arg475Met)
c.1472G>T (p.Arg491Met)
c.1613G>T (p.Arg538Met)
c.1283G>T (p.Arg428Met)
c.1628G>T (p.Arg543Met)
c.1865G>T (p.Arg622Met)
c.1817G>T (p.Arg606Met)
c.1676G>T (p.Arg559Met)
c.1661G>T (p.Arg554Met)
c.1520G>T (p.Arg507Met)
c.1331G>T (p.Arg444Met)
c.1316G>T (p.Arg439Met)
c.821G>T (p.Arg274Met)
c.632G>T (p.Arg211Met)
 gnomAD v4
10g.86716709G>ACA470308321LDB3n.515-2018G>A
c.1425G>A (p.Arg475=)
c.1473G>A (p.Arg491=)
c.1614G>A (p.Arg538=)
c.1284G>A (p.Arg428=)
c.1629G>A (p.Arg543=)
c.1866G>A (p.Arg622=)
c.1818G>A (p.Arg606=)
c.1677G>A (p.Arg559=)
c.1662G>A (p.Arg554=)
c.1521G>A (p.Arg507=)
c.1332G>A (p.Arg444=)
c.1317G>A (p.Arg439=)
c.822G>A (p.Arg274=)
c.633G>A (p.Arg211=)
10g.86716709G>CCA377451584LDB3n.515-2018G>C
c.1425G>C (p.Arg475Ser)
c.1473G>C (p.Arg491Ser)
c.1614G>C (p.Arg538Ser)
c.1284G>C (p.Arg428Ser)
c.1629G>C (p.Arg543Ser)
c.1866G>C (p.Arg622Ser)
c.1818G>C (p.Arg606Ser)
c.1677G>C (p.Arg559Ser)
c.1662G>C (p.Arg554Ser)
c.1521G>C (p.Arg507Ser)
c.1332G>C (p.Arg444Ser)
c.1317G>C (p.Arg439Ser)
c.822G>C (p.Arg274Ser)
c.633G>C (p.Arg211Ser)
10g.86716709G>TCA377451585LDB3n.515-2018G>T
c.1425G>T (p.Arg475Ser)
c.1473G>T (p.Arg491Ser)
c.1614G>T (p.Arg538Ser)
c.1284G>T (p.Arg428Ser)
c.1629G>T (p.Arg543Ser)
c.1866G>T (p.Arg622Ser)
c.1818G>T (p.Arg606Ser)
c.1677G>T (p.Arg559Ser)
c.1662G>T (p.Arg554Ser)
c.1521G>T (p.Arg507Ser)
c.1332G>T (p.Arg444Ser)
c.1317G>T (p.Arg439Ser)
c.822G>T (p.Arg274Ser)
c.633G>T (p.Arg211Ser)
10g.86716710G>ACA377451587LDB3n.515-2017G>A
c.1426G>A (p.Ala476Thr)
c.1474G>A (p.Ala492Thr)
c.1615G>A (p.Ala539Thr)
c.1285G>A (p.Ala429Thr)
c.1630G>A (p.Ala544Thr)
c.1867G>A (p.Ala623Thr)
c.1819G>A (p.Ala607Thr)
c.1678G>A (p.Ala560Thr)
c.1663G>A (p.Ala555Thr)
c.1522G>A (p.Ala508Thr)
c.1333G>A (p.Ala445Thr)
c.1318G>A (p.Ala440Thr)
c.823G>A (p.Ala275Thr)
c.634G>A (p.Ala212Thr)
10g.86716710G>CCA377451588LDB3n.515-2017G>C
c.1426G>C (p.Ala476Pro)
c.1474G>C (p.Ala492Pro)
c.1615G>C (p.Ala539Pro)
c.1285G>C (p.Ala429Pro)
c.1630G>C (p.Ala544Pro)
c.1867G>C (p.Ala623Pro)
c.1819G>C (p.Ala607Pro)
c.1678G>C (p.Ala560Pro)
c.1663G>C (p.Ala555Pro)
c.1522G>C (p.Ala508Pro)
c.1333G>C (p.Ala445Pro)
c.1318G>C (p.Ala440Pro)
c.823G>C (p.Ala275Pro)
c.634G>C (p.Ala212Pro)
10g.86716710G>TCA377451586LDB3n.515-2017G>T
c.1426G>T (p.Ala476Ser)
c.1474G>T (p.Ala492Ser)
c.1615G>T (p.Ala539Ser)
c.1285G>T (p.Ala429Ser)
c.1630G>T (p.Ala544Ser)
c.1867G>T (p.Ala623Ser)
c.1819G>T (p.Ala607Ser)
c.1678G>T (p.Ala560Ser)
c.1663G>T (p.Ala555Ser)
c.1522G>T (p.Ala508Ser)
c.1333G>T (p.Ala445Ser)
c.1318G>T (p.Ala440Ser)
c.823G>T (p.Ala275Ser)
c.634G>T (p.Ala212Ser)
10g.86716711C>ACA377451589LDB3n.515-2016C>A
c.1427C>A (p.Ala476Asp)
c.1475C>A (p.Ala492Asp)
c.1616C>A (p.Ala539Asp)
c.1286C>A (p.Ala429Asp)
c.1631C>A (p.Ala544Asp)
c.1868C>A (p.Ala623Asp)
c.1820C>A (p.Ala607Asp)
c.1679C>A (p.Ala560Asp)
c.1664C>A (p.Ala555Asp)
c.1523C>A (p.Ala508Asp)
c.1334C>A (p.Ala445Asp)
c.1319C>A (p.Ala440Asp)
c.824C>A (p.Ala275Asp)
c.635C>A (p.Ala212Asp)
10g.86716711C>GCA377451591LDB3n.515-2016C>G
c.1427C>G (p.Ala476Gly)
c.1475C>G (p.Ala492Gly)
c.1616C>G (p.Ala539Gly)
c.1286C>G (p.Ala429Gly)
c.1631C>G (p.Ala544Gly)
c.1868C>G (p.Ala623Gly)
c.1820C>G (p.Ala607Gly)
c.1679C>G (p.Ala560Gly)
c.1664C>G (p.Ala555Gly)
c.1523C>G (p.Ala508Gly)
c.1334C>G (p.Ala445Gly)
c.1319C>G (p.Ala440Gly)
c.824C>G (p.Ala275Gly)
c.635C>G (p.Ala212Gly)
10g.86716711C>TCA377451590LDB3n.515-2016C>T
c.1427C>T (p.Ala476Val)
c.1475C>T (p.Ala492Val)
c.1616C>T (p.Ala539Val)
c.1286C>T (p.Ala429Val)
c.1631C>T (p.Ala544Val)
c.1868C>T (p.Ala623Val)
c.1820C>T (p.Ala607Val)
c.1679C>T (p.Ala560Val)
c.1664C>T (p.Ala555Val)
c.1523C>T (p.Ala508Val)
c.1334C>T (p.Ala445Val)
c.1319C>T (p.Ala440Val)
c.824C>T (p.Ala275Val)
c.635C>T (p.Ala212Val)
10g.86716712T>ACA470308322LDB3n.515-2015T>A
c.1428T>A (p.Ala476=)
c.1476T>A (p.Ala492=)
c.1617T>A (p.Ala539=)
c.1287T>A (p.Ala429=)
c.1632T>A (p.Ala544=)
c.1869T>A (p.Ala623=)
c.1821T>A (p.Ala607=)
c.1680T>A (p.Ala560=)
c.1665T>A (p.Ala555=)
c.1524T>A (p.Ala508=)
c.1335T>A (p.Ala445=)
c.1320T>A (p.Ala440=)
c.825T>A (p.Ala275=)
c.636T>A (p.Ala212=)
10g.86716712T>CCA470308323LDB3n.515-2015T>C
c.1428T>C (p.Ala476=)
c.1476T>C (p.Ala492=)
c.1617T>C (p.Ala539=)
c.1287T>C (p.Ala429=)
c.1632T>C (p.Ala544=)
c.1869T>C (p.Ala623=)
c.1821T>C (p.Ala607=)
c.1680T>C (p.Ala560=)
c.1665T>C (p.Ala555=)
c.1524T>C (p.Ala508=)
c.1335T>C (p.Ala445=)
c.1320T>C (p.Ala440=)
c.825T>C (p.Ala275=)
c.636T>C (p.Ala212=)
10g.86716712T>GCA470308325LDB3n.515-2015T>G
c.1428T>G (p.Ala476=)
c.1476T>G (p.Ala492=)
c.1617T>G (p.Ala539=)
c.1287T>G (p.Ala429=)
c.1632T>G (p.Ala544=)
c.1869T>G (p.Ala623=)
c.1821T>G (p.Ala607=)
c.1680T>G (p.Ala560=)
c.1665T>G (p.Ala555=)
c.1524T>G (p.Ala508=)
c.1335T>G (p.Ala445=)
c.1320T>G (p.Ala440=)
c.825T>G (p.Ala275=)
c.636T>G (p.Ala212=)
10g.86716713G>ACA377451592LDB3n.515-2014G>A
c.1429G>A (p.Glu477Lys)
c.1477G>A (p.Glu493Lys)
c.1618G>A (p.Glu540Lys)
c.1288G>A (p.Glu430Lys)
c.1633G>A (p.Glu545Lys)
c.1870G>A (p.Glu624Lys)
c.1822G>A (p.Glu608Lys)
c.1681G>A (p.Glu561Lys)
c.1666G>A (p.Glu556Lys)
c.1525G>A (p.Glu509Lys)
c.1336G>A (p.Glu446Lys)
c.1321G>A (p.Glu441Lys)
c.826G>A (p.Glu276Lys)
c.637G>A (p.Glu213Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716713G>CCA377451593LDB3n.515-2014G>C
c.1429G>C (p.Glu477Gln)
c.1477G>C (p.Glu493Gln)
c.1618G>C (p.Glu540Gln)
c.1288G>C (p.Glu430Gln)
c.1633G>C (p.Glu545Gln)
c.1870G>C (p.Glu624Gln)
c.1822G>C (p.Glu608Gln)
c.1681G>C (p.Glu561Gln)
c.1666G>C (p.Glu556Gln)
c.1525G>C (p.Glu509Gln)
c.1336G>C (p.Glu446Gln)
c.1321G>C (p.Glu441Gln)
c.826G>C (p.Glu276Gln)
c.637G>C (p.Glu213Gln)
10g.86716713G=CA1925632007LDB3n.515-2014G=
c.1429G= (p.Glu477=)
c.1477G= (p.Glu493=)
c.1618G= (p.Glu540=)
c.1288G= (p.Glu430=)
c.1633G= (p.Glu545=)
c.1870G= (p.Glu624=)
c.1822G= (p.Glu608=)
c.1681G= (p.Glu561=)
c.1666G= (p.Glu556=)
c.1525G= (p.Glu509=)
c.1336G= (p.Glu446=)
c.1321G= (p.Glu441=)
c.826G= (p.Glu276=)
c.637G= (p.Glu213=)
10g.86716713G>TCA211208167LDB3n.515-2014G>T
c.1429G>T (p.Glu477Ter)
c.1477G>T (p.Glu493Ter)
c.1618G>T (p.Glu540Ter)
c.1288G>T (p.Glu430Ter)
c.1633G>T (p.Glu545Ter)
c.1870G>T (p.Glu624Ter)
c.1822G>T (p.Glu608Ter)
c.1681G>T (p.Glu561Ter)
c.1666G>T (p.Glu556Ter)
c.1525G>T (p.Glu509Ter)
c.1336G>T (p.Glu446Ter)
c.1321G>T (p.Glu441Ter)
c.826G>T (p.Glu276Ter)
c.637G>T (p.Glu213Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC

Number of alleles fetched