Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.32611089_32611178delCA2695216221FGD4c.1192-48_1233del
c.1447-48_1488del
c.913-48_954del
c.4-48_45del
n.699-48_740del
c.1603-48_1644del
c.*584-48_*625del
c.*603-48_*644del
c.781-48_822del
c.1528-48_1569del
c.*561-48_*602del
c.448-48_489del
c.160-48_201del
c.1684-48_1725del
c.1486-48_1527del
c.640-48_681del
c.595-48_636del
c.427-48_468del
c.301-48_342del
n.1893-48_1934del
12g.32611170delCA2575117595FGD4c.1225del (p.Met409CysfsTer9)
c.1480del (p.Met494CysfsTer9)
c.946del (p.Met316CysfsTer9)
c.37del (p.Met13CysfsTer9)
n.732del
c.1636del (p.Met546CysfsTer9)
c.*617del (n.*617del)
c.*636del (n.*636del)
c.814del
c.1561del (p.Met521CysfsTer9)
c.*594del (n.*594del)
c.481del (p.Met161CysfsTer9)
c.193del (p.Met65CysfsTer9)
c.1717del (p.Met573CysfsTer9)
c.1519del (p.Met507CysfsTer9)
c.673del (p.Met225CysfsTer9)
c.628del (p.Met210CysfsTer9)
c.460del (p.Met154CysfsTer9)
c.334del (p.Met112CysfsTer9)
n.1926del
12g.32611170A>CCA384361011FGD4c.1225A>C (p.Met409Leu)
c.1480A>C (p.Met494Leu)
c.946A>C (p.Met316Leu)
c.37A>C (p.Met13Leu)
n.732A>C
c.1636A>C (p.Met546Leu)
c.*617A>C (n.*617A>C)
c.*636A>C (n.*636A>C)
c.814A>C
c.1561A>C (p.Met521Leu)
c.*594A>C (n.*594A>C)
c.481A>C (p.Met161Leu)
c.193A>C (p.Met65Leu)
c.1717A>C (p.Met573Leu)
c.1519A>C (p.Met507Leu)
c.673A>C (p.Met225Leu)
c.628A>C (p.Met210Leu)
c.460A>C (p.Met154Leu)
c.334A>C (p.Met112Leu)
n.1926A>C
12g.32611170A>GCA384361012FGD4c.1225A>G (p.Met409Val)
c.1480A>G (p.Met494Val)
c.946A>G (p.Met316Val)
c.37A>G (p.Met13Val)
n.732A>G
c.1636A>G (p.Met546Val)
c.*617A>G (n.*617A>G)
c.*636A>G (n.*636A>G)
c.814A>G
c.1561A>G (p.Met521Val)
c.*594A>G (n.*594A>G)
c.481A>G (p.Met161Val)
c.193A>G (p.Met65Val)
c.1717A>G (p.Met573Val)
c.1519A>G (p.Met507Val)
c.673A>G (p.Met225Val)
c.628A>G (p.Met210Val)
c.460A>G (p.Met154Val)
c.334A>G (p.Met112Val)
n.1926A>G
12g.32611170A>TCA384361010FGD4c.1225A>T (p.Met409Leu)
c.1480A>T (p.Met494Leu)
c.946A>T (p.Met316Leu)
c.37A>T (p.Met13Leu)
n.732A>T
c.1636A>T (p.Met546Leu)
c.*617A>T (n.*617A>T)
c.*636A>T (n.*636A>T)
c.814A>T
c.1561A>T (p.Met521Leu)
c.*594A>T (n.*594A>T)
c.481A>T (p.Met161Leu)
c.193A>T (p.Met65Leu)
c.1717A>T (p.Met573Leu)
c.1519A>T (p.Met507Leu)
c.673A>T (p.Met225Leu)
c.628A>T (p.Met210Leu)
c.460A>T (p.Met154Leu)
c.334A>T (p.Met112Leu)
n.1926A>T
12g.32611171T>ACA384361013FGD4c.1226T>A (p.Met409Lys)
c.1481T>A (p.Met494Lys)
c.947T>A (p.Met316Lys)
c.38T>A (p.Met13Lys)
n.733T>A
c.1637T>A (p.Met546Lys)
c.*618T>A (n.*618T>A)
c.*637T>A (n.*637T>A)
c.815T>A
c.1562T>A (p.Met521Lys)
c.*595T>A (n.*595T>A)
c.482T>A (p.Met161Lys)
c.194T>A (p.Met65Lys)
c.1718T>A (p.Met573Lys)
c.1520T>A (p.Met507Lys)
c.674T>A (p.Met225Lys)
c.629T>A (p.Met210Lys)
c.461T>A (p.Met154Lys)
c.335T>A (p.Met112Lys)
n.1927T>A
 gnomAD v4
12g.32611171T>CCA384361014FGD4c.1226T>C (p.Met409Thr)
c.1481T>C (p.Met494Thr)
c.947T>C (p.Met316Thr)
c.38T>C (p.Met13Thr)
n.733T>C
c.1637T>C (p.Met546Thr)
c.*618T>C (n.*618T>C)
c.*637T>C (n.*637T>C)
c.815T>C
c.1562T>C (p.Met521Thr)
c.*595T>C (n.*595T>C)
c.482T>C (p.Met161Thr)
c.194T>C (p.Met65Thr)
c.1718T>C (p.Met573Thr)
c.1520T>C (p.Met507Thr)
c.674T>C (p.Met225Thr)
c.629T>C (p.Met210Thr)
c.461T>C (p.Met154Thr)
c.335T>C (p.Met112Thr)
n.1927T>C
 gnomAD v4
12g.32611171T>GCA384361015FGD4c.1226T>G (p.Met409Arg)
c.1481T>G (p.Met494Arg)
c.947T>G (p.Met316Arg)
c.38T>G (p.Met13Arg)
n.733T>G
c.1637T>G (p.Met546Arg)
c.*618T>G (n.*618T>G)
c.*637T>G (n.*637T>G)
c.815T>G
c.1562T>G (p.Met521Arg)
c.*595T>G (n.*595T>G)
c.482T>G (p.Met161Arg)
c.194T>G (p.Met65Arg)
c.1718T>G (p.Met573Arg)
c.1520T>G (p.Met507Arg)
c.674T>G (p.Met225Arg)
c.629T>G (p.Met210Arg)
c.461T>G (p.Met154Arg)
c.335T>G (p.Met112Arg)
n.1927T>G
12g.32611172G>ACA6506850FGD4c.1227G>A (p.Met409Ile)
c.1482G>A (p.Met494Ile)
c.948G>A (p.Met316Ile)
c.39G>A (p.Met13Ile)
n.734G>A
c.1638G>A (p.Met546Ile)
c.*619G>A (n.*619G>A)
c.*638G>A (n.*638G>A)
c.816G>A
c.1563G>A (p.Met521Ile)
c.*596G>A (n.*596G>A)
c.483G>A (p.Met161Ile)
c.195G>A (p.Met65Ile)
c.1719G>A (p.Met573Ile)
c.1521G>A (p.Met507Ile)
c.675G>A (p.Met225Ile)
c.630G>A (p.Met210Ile)
c.462G>A (p.Met154Ile)
c.336G>A (p.Met112Ile)
n.1928G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611172G>CCA384361016FGD4c.1227G>C (p.Met409Ile)
c.1482G>C (p.Met494Ile)
c.948G>C (p.Met316Ile)
c.39G>C (p.Met13Ile)
n.734G>C
c.1638G>C (p.Met546Ile)
c.*619G>C (n.*619G>C)
c.*638G>C (n.*638G>C)
c.816G>C
c.1563G>C (p.Met521Ile)
c.*596G>C (n.*596G>C)
c.483G>C (p.Met161Ile)
c.195G>C (p.Met65Ile)
c.1719G>C (p.Met573Ile)
c.1521G>C (p.Met507Ile)
c.675G>C (p.Met225Ile)
c.630G>C (p.Met210Ile)
c.462G>C (p.Met154Ile)
c.336G>C (p.Met112Ile)
n.1928G>C
12g.32611172G=CA2026267783FGD4c.1227G= (p.Met409=)
c.1482G= (p.Met494=)
c.948G= (p.Met316=)
c.39G= (p.Met13=)
n.734G=
c.1638G= (p.Met546=)
c.*619G= (n.*619G=)
c.*638G= (n.*638G=)
c.816G=
c.1563G= (p.Met521=)
c.*596G= (n.*596G=)
c.483G= (p.Met161=)
c.195G= (p.Met65=)
c.1719G= (p.Met573=)
c.1521G= (p.Met507=)
c.675G= (p.Met225=)
c.630G= (p.Met210=)
c.462G= (p.Met154=)
c.336G= (p.Met112=)
n.1928G=
12g.32611172G>TCA384361017FGD4c.1227G>T (p.Met409Ile)
c.1482G>T (p.Met494Ile)
c.948G>T (p.Met316Ile)
c.39G>T (p.Met13Ile)
n.734G>T
c.1638G>T (p.Met546Ile)
c.*619G>T (n.*619G>T)
c.*638G>T (n.*638G>T)
c.816G>T
c.1563G>T (p.Met521Ile)
c.*596G>T (n.*596G>T)
c.483G>T (p.Met161Ile)
c.195G>T (p.Met65Ile)
c.1719G>T (p.Met573Ile)
c.1521G>T (p.Met507Ile)
c.675G>T (p.Met225Ile)
c.630G>T (p.Met210Ile)
c.462G>T (p.Met154Ile)
c.336G>T (p.Met112Ile)
n.1928G>T
 gnomAD v4
12g.32611173T>ACA384361018FGD4c.1228T>A (p.Leu410Met)
c.1483T>A (p.Leu495Met)
c.949T>A (p.Leu317Met)
c.40T>A (p.Leu14Met)
n.735T>A
c.1639T>A (p.Leu547Met)
c.*620T>A (n.*620T>A)
c.*639T>A (n.*639T>A)
c.817T>A
c.1564T>A (p.Leu522Met)
c.*597T>A (n.*597T>A)
c.484T>A (p.Leu162Met)
c.196T>A (p.Leu66Met)
c.1720T>A (p.Leu574Met)
c.1522T>A (p.Leu508Met)
c.676T>A (p.Leu226Met)
c.631T>A (p.Leu211Met)
c.463T>A (p.Leu155Met)
c.337T>A (p.Leu113Met)
n.1929T>A
12g.32611173T>CCA479167800FGD4c.1228T>C (p.Leu410=)
c.1483T>C (p.Leu495=)
c.949T>C (p.Leu317=)
c.40T>C (p.Leu14=)
n.735T>C
c.1639T>C (p.Leu547=)
c.*620T>C (n.*620T>C)
c.*639T>C (n.*639T>C)
c.817T>C
c.1564T>C (p.Leu522=)
c.*597T>C (n.*597T>C)
c.484T>C (p.Leu162=)
c.196T>C (p.Leu66=)
c.1720T>C (p.Leu574=)
c.1522T>C (p.Leu508=)
c.676T>C (p.Leu226=)
c.631T>C (p.Leu211=)
c.463T>C (p.Leu155=)
c.337T>C (p.Leu113=)
n.1929T>C
 dbSNP gnomAD v2 gnomAD v4
12g.32611173T>GCA384361019FGD4c.1228T>G (p.Leu410Val)
c.1483T>G (p.Leu495Val)
c.949T>G (p.Leu317Val)
c.40T>G (p.Leu14Val)
n.735T>G
c.1639T>G (p.Leu547Val)
c.*620T>G (n.*620T>G)
c.*639T>G (n.*639T>G)
c.817T>G
c.1564T>G (p.Leu522Val)
c.*597T>G (n.*597T>G)
c.484T>G (p.Leu162Val)
c.196T>G (p.Leu66Val)
c.1720T>G (p.Leu574Val)
c.1522T>G (p.Leu508Val)
c.676T>G (p.Leu226Val)
c.631T>G (p.Leu211Val)
c.463T>G (p.Leu155Val)
c.337T>G (p.Leu113Val)
n.1929T>G
12g.32611173T=CA2026267784FGD4c.1228T= (p.Leu410=)
c.1483T= (p.Leu495=)
c.949T= (p.Leu317=)
c.40T= (p.Leu14=)
n.735T=
c.1639T= (p.Leu547=)
c.*620T= (n.*620T=)
c.*639T= (n.*639T=)
c.817T=
c.1564T= (p.Leu522=)
c.*597T= (n.*597T=)
c.484T= (p.Leu162=)
c.196T= (p.Leu66=)
c.1720T= (p.Leu574=)
c.1522T= (p.Leu508=)
c.676T= (p.Leu226=)
c.631T= (p.Leu211=)
c.463T= (p.Leu155=)
c.337T= (p.Leu113=)
n.1929T=
12g.32611174T>ACA384361020FGD4c.1229T>A (p.Leu410Ter)
c.1484T>A (p.Leu495Ter)
c.950T>A (p.Leu317Ter)
c.41T>A (p.Leu14Ter)
n.736T>A
c.1640T>A (p.Leu547Ter)
c.*621T>A (n.*621T>A)
c.*640T>A (n.*640T>A)
c.818T>A
c.1565T>A (p.Leu522Ter)
c.*598T>A (n.*598T>A)
c.485T>A (p.Leu162Ter)
c.197T>A (p.Leu66Ter)
c.1721T>A (p.Leu574Ter)
c.1523T>A (p.Leu508Ter)
c.677T>A (p.Leu226Ter)
c.632T>A (p.Leu211Ter)
c.464T>A (p.Leu155Ter)
c.338T>A (p.Leu113Ter)
n.1930T>A
12g.32611174T>CCA384361021FGD4c.1229T>C (p.Leu410Ser)
c.1484T>C (p.Leu495Ser)
c.950T>C (p.Leu317Ser)
c.41T>C (p.Leu14Ser)
n.736T>C
c.1640T>C (p.Leu547Ser)
c.*621T>C (n.*621T>C)
c.*640T>C (n.*640T>C)
c.818T>C
c.1565T>C (p.Leu522Ser)
c.*598T>C (n.*598T>C)
c.485T>C (p.Leu162Ser)
c.197T>C (p.Leu66Ser)
c.1721T>C (p.Leu574Ser)
c.1523T>C (p.Leu508Ser)
c.677T>C (p.Leu226Ser)
c.632T>C (p.Leu211Ser)
c.464T>C (p.Leu155Ser)
c.338T>C (p.Leu113Ser)
n.1930T>C
 dbSNP gnomAD v2 gnomAD v4
12g.32611174T>GCA384361022FGD4c.1229T>G (p.Leu410Trp)
c.1484T>G (p.Leu495Trp)
c.950T>G (p.Leu317Trp)
c.41T>G (p.Leu14Trp)
n.736T>G
c.1640T>G (p.Leu547Trp)
c.*621T>G (n.*621T>G)
c.*640T>G (n.*640T>G)
c.818T>G
c.1565T>G (p.Leu522Trp)
c.*598T>G (n.*598T>G)
c.485T>G (p.Leu162Trp)
c.197T>G (p.Leu66Trp)
c.1721T>G (p.Leu574Trp)
c.1523T>G (p.Leu508Trp)
c.677T>G (p.Leu226Trp)
c.632T>G (p.Leu211Trp)
c.464T>G (p.Leu155Trp)
c.338T>G (p.Leu113Trp)
n.1930T>G
12g.32611174T=CA2026267785FGD4c.1229T= (p.Leu410=)
c.1484T= (p.Leu495=)
c.950T= (p.Leu317=)
c.41T= (p.Leu14=)
n.736T=
c.1640T= (p.Leu547=)
c.*621T= (n.*621T=)
c.*640T= (n.*640T=)
c.818T=
c.1565T= (p.Leu522=)
c.*598T= (n.*598T=)
c.485T= (p.Leu162=)
c.197T= (p.Leu66=)
c.1721T= (p.Leu574=)
c.1523T= (p.Leu508=)
c.677T= (p.Leu226=)
c.632T= (p.Leu211=)
c.464T= (p.Leu155=)
c.338T= (p.Leu113=)
n.1930T=
12g.32611175G>ACA479167801FGD4c.1230G>A (p.Leu410=)
c.1485G>A (p.Leu495=)
c.951G>A (p.Leu317=)
c.42G>A (p.Leu14=)
n.737G>A
c.1641G>A (p.Leu547=)
c.*622G>A (n.*622G>A)
c.*641G>A (n.*641G>A)
c.819G>A
c.1566G>A (p.Leu522=)
c.*599G>A (n.*599G>A)
c.486G>A (p.Leu162=)
c.198G>A (p.Leu66=)
c.1722G>A (p.Leu574=)
c.1524G>A (p.Leu508=)
c.678G>A (p.Leu226=)
c.633G>A (p.Leu211=)
c.465G>A (p.Leu155=)
c.339G>A (p.Leu113=)
n.1931G>A
12g.32611175G>CCA384361023FGD4c.1230G>C (p.Leu410Phe)
c.1485G>C (p.Leu495Phe)
c.951G>C (p.Leu317Phe)
c.42G>C (p.Leu14Phe)
n.737G>C
c.1641G>C (p.Leu547Phe)
c.*622G>C (n.*622G>C)
c.*641G>C (n.*641G>C)
c.819G>C
c.1566G>C (p.Leu522Phe)
c.*599G>C (n.*599G>C)
c.486G>C (p.Leu162Phe)
c.198G>C (p.Leu66Phe)
c.1722G>C (p.Leu574Phe)
c.1524G>C (p.Leu508Phe)
c.678G>C (p.Leu226Phe)
c.633G>C (p.Leu211Phe)
c.465G>C (p.Leu155Phe)
c.339G>C (p.Leu113Phe)
n.1931G>C
12g.32611175G>TCA384361024FGD4c.1230G>T (p.Leu410Phe)
c.1485G>T (p.Leu495Phe)
c.951G>T (p.Leu317Phe)
c.42G>T (p.Leu14Phe)
n.737G>T
c.1641G>T (p.Leu547Phe)
c.*622G>T (n.*622G>T)
c.*641G>T (n.*641G>T)
c.819G>T
c.1566G>T (p.Leu522Phe)
c.*599G>T (n.*599G>T)
c.486G>T (p.Leu162Phe)
c.198G>T (p.Leu66Phe)
c.1722G>T (p.Leu574Phe)
c.1524G>T (p.Leu508Phe)
c.678G>T (p.Leu226Phe)
c.633G>T (p.Leu211Phe)
c.465G>T (p.Leu155Phe)
c.339G>T (p.Leu113Phe)
n.1931G>T
12g.32611176G>ACA384361027FGD4c.1231G>A (p.Gly411Arg)
c.1486G>A (p.Gly496Arg)
c.952G>A (p.Gly318Arg)
c.43G>A (p.Gly15Arg)
n.738G>A
c.1642G>A (p.Gly548Arg)
c.*623G>A (n.*623G>A)
c.*642G>A (n.*642G>A)
c.820G>A
c.1567G>A (p.Gly523Arg)
c.*600G>A (n.*600G>A)
c.487G>A (p.Gly163Arg)
c.199G>A (p.Gly67Arg)
c.1723G>A (p.Gly575Arg)
c.1525G>A (p.Gly509Arg)
c.679G>A (p.Gly227Arg)
c.634G>A (p.Gly212Arg)
c.466G>A (p.Gly156Arg)
c.340G>A (p.Gly114Arg)
n.1932G>A
 dbSNP gnomAD v4
12g.32611176G>CCA384361026FGD4c.1231G>C (p.Gly411Arg)
c.1486G>C (p.Gly496Arg)
c.952G>C (p.Gly318Arg)
c.43G>C (p.Gly15Arg)
n.738G>C
c.1642G>C (p.Gly548Arg)
c.*623G>C (n.*623G>C)
c.*642G>C (n.*642G>C)
c.820G>C
c.1567G>C (p.Gly523Arg)
c.*600G>C (n.*600G>C)
c.487G>C (p.Gly163Arg)
c.199G>C (p.Gly67Arg)
c.1723G>C (p.Gly575Arg)
c.1525G>C (p.Gly509Arg)
c.679G>C (p.Gly227Arg)
c.634G>C (p.Gly212Arg)
c.466G>C (p.Gly156Arg)
c.340G>C (p.Gly114Arg)
n.1932G>C
12g.32611176G=CA2026267786FGD4c.1231G= (p.Gly411=)
c.1486G= (p.Gly496=)
c.952G= (p.Gly318=)
c.43G= (p.Gly15=)
n.738G=
c.1642G= (p.Gly548=)
c.*623G= (n.*623G=)
c.*642G= (n.*642G=)
c.820G=
c.1567G= (p.Gly523=)
c.*600G= (n.*600G=)
c.487G= (p.Gly163=)
c.199G= (p.Gly67=)
c.1723G= (p.Gly575=)
c.1525G= (p.Gly509=)
c.679G= (p.Gly227=)
c.634G= (p.Gly212=)
c.466G= (p.Gly156=)
c.340G= (p.Gly114=)
n.1932G=
12g.32611176G>TCA384361025FGD4c.1231G>T (p.Gly411Ter)
c.1486G>T (p.Gly496Ter)
c.952G>T (p.Gly318Ter)
c.43G>T (p.Gly15Ter)
n.738G>T
c.1642G>T (p.Gly548Ter)
c.*623G>T (n.*623G>T)
c.*642G>T (n.*642G>T)
c.820G>T
c.1567G>T (p.Gly523Ter)
c.*600G>T (n.*600G>T)
c.487G>T (p.Gly163Ter)
c.199G>T (p.Gly67Ter)
c.1723G>T (p.Gly575Ter)
c.1525G>T (p.Gly509Ter)
c.679G>T (p.Gly227Ter)
c.634G>T (p.Gly212Ter)
c.466G>T (p.Gly156Ter)
c.340G>T (p.Gly114Ter)
n.1932G>T
12g.32611177_32611179dupCA2575117596FGD4c.1232_1234dup (p.Gly411_Glu412insGly)
c.1487_1489dup (p.Gly496_Glu497insGly)
c.953_955dup (p.Gly318_Glu319insGly)
c.44_46dup (p.Gly15_Glu16insGly)
n.739_741dup
c.1643_1645dup (p.Gly548_Glu549insGly)
c.*624_*626dup (n.*624_*626dup)
c.*643_*645dup (n.*643_*645dup)
c.821_823dup
c.1568_1570dup (p.Gly523_Glu524insGly)
c.*601_*603dup (n.*601_*603dup)
c.488_490dup (p.Gly163_Glu164insGly)
c.200_202dup (p.Gly67_Glu68insGly)
c.1724_1726dup (p.Gly575_Glu576insGly)
c.1526_1528dup (p.Gly509_Glu510insGly)
c.680_682dup (p.Gly227_Glu228insGly)
c.635_637dup (p.Gly212_Glu213insGly)
c.467_469dup (p.Gly156_Glu157insGly)
c.341_343dup (p.Gly114_Glu115insGly)
n.1933_1935dup
12g.32611177G>ACA235216058FGD4c.1232G>A (p.Gly411Glu)
c.1487G>A (p.Gly496Glu)
c.953G>A (p.Gly318Glu)
c.44G>A (p.Gly15Glu)
n.739G>A
c.1643G>A (p.Gly548Glu)
c.*624G>A (n.*624G>A)
c.*643G>A (n.*643G>A)
c.821G>A
c.1568G>A (p.Gly523Glu)
c.*601G>A (n.*601G>A)
c.488G>A (p.Gly163Glu)
c.200G>A (p.Gly67Glu)
c.1724G>A (p.Gly575Glu)
c.1526G>A (p.Gly509Glu)
c.680G>A (p.Gly227Glu)
c.635G>A (p.Gly212Glu)
c.467G>A (p.Gly156Glu)
c.341G>A (p.Gly114Glu)
n.1933G>A
 dbSNP gnomAD v4
12g.32611177G>CCA384361028FGD4c.1232G>C (p.Gly411Ala)
c.1487G>C (p.Gly496Ala)
c.953G>C (p.Gly318Ala)
c.44G>C (p.Gly15Ala)
n.739G>C
c.1643G>C (p.Gly548Ala)
c.*624G>C (n.*624G>C)
c.*643G>C (n.*643G>C)
c.821G>C
c.1568G>C (p.Gly523Ala)
c.*601G>C (n.*601G>C)
c.488G>C (p.Gly163Ala)
c.200G>C (p.Gly67Ala)
c.1724G>C (p.Gly575Ala)
c.1526G>C (p.Gly509Ala)
c.680G>C (p.Gly227Ala)
c.635G>C (p.Gly212Ala)
c.467G>C (p.Gly156Ala)
c.341G>C (p.Gly114Ala)
n.1933G>C
 dbSNP gnomAD v4
12g.32611177G=CA2026267787FGD4c.1232G= (p.Gly411=)
c.1487G= (p.Gly496=)
c.953G= (p.Gly318=)
c.44G= (p.Gly15=)
n.739G=
c.1643G= (p.Gly548=)
c.*624G= (n.*624G=)
c.*643G= (n.*643G=)
c.821G=
c.1568G= (p.Gly523=)
c.*601G= (n.*601G=)
c.488G= (p.Gly163=)
c.200G= (p.Gly67=)
c.1724G= (p.Gly575=)
c.1526G= (p.Gly509=)
c.680G= (p.Gly227=)
c.635G= (p.Gly212=)
c.467G= (p.Gly156=)
c.341G= (p.Gly114=)
n.1933G=
12g.32611177G>TCA384361029FGD4c.1232G>T (p.Gly411Val)
c.1487G>T (p.Gly496Val)
c.953G>T (p.Gly318Val)
c.44G>T (p.Gly15Val)
n.739G>T
c.1643G>T (p.Gly548Val)
c.*624G>T (n.*624G>T)
c.*643G>T (n.*643G>T)
c.821G>T
c.1568G>T (p.Gly523Val)
c.*601G>T (n.*601G>T)
c.488G>T (p.Gly163Val)
c.200G>T (p.Gly67Val)
c.1724G>T (p.Gly575Val)
c.1526G>T (p.Gly509Val)
c.680G>T (p.Gly227Val)
c.635G>T (p.Gly212Val)
c.467G>T (p.Gly156Val)
c.341G>T (p.Gly114Val)
n.1933G>T
12g.32611177_32611180delinsGAGACA2026267788FGD4c.1232_1235delinsGAGA (p.Gly411=)
c.1487_1490delinsGAGA (p.Gly496=)
c.953_956delinsGAGA (p.Gly318=)
c.44_47delinsGAGA (p.Gly15=)
n.739_742delinsGAGA
c.1643_1646delinsGAGA (p.Gly548=)
c.*624_*627delinsGAGA (n.*624_*627delinsGAGA)
c.*643_*646delinsGAGA (n.*643_*646delinsGAGA)
c.821_824delinsGAGA
c.1568_1571delinsGAGA (p.Gly523=)
c.*601_*604delinsGAGA (n.*601_*604delinsGAGA)
c.488_491delinsGAGA (p.Gly163=)
c.200_203delinsGAGA (p.Gly67=)
c.1724_1727delinsGAGA (p.Gly575=)
c.1526_1529delinsGAGA (p.Gly509=)
c.680_683delinsGAGA (p.Gly227=)
c.635_638delinsGAGA (p.Gly212=)
c.467_470delinsGAGA (p.Gly156=)
c.341_344delinsGAGA (p.Gly114=)
n.1933_1936delinsGAGA
12g.32611178A>CCA479167808FGD4c.1233A>C (p.Gly411=)
c.1488A>C (p.Gly496=)
c.954A>C (p.Gly318=)
c.45A>C (p.Gly15=)
n.740A>C
c.1644A>C (p.Gly548=)
c.*625A>C (n.*625A>C)
c.*644A>C (n.*644A>C)
c.822A>C
c.1569A>C (p.Gly523=)
c.*602A>C (n.*602A>C)
c.489A>C (p.Gly163=)
c.201A>C (p.Gly67=)
c.1725A>C (p.Gly575=)
c.1527A>C (p.Gly509=)
c.681A>C (p.Gly227=)
c.636A>C (p.Gly212=)
c.468A>C (p.Gly156=)
c.342A>C (p.Gly114=)
n.1934A>C
12g.32611178A>GCA479167809FGD4c.1233A>G (p.Gly411=)
c.1488A>G (p.Gly496=)
c.954A>G (p.Gly318=)
c.45A>G (p.Gly15=)
n.740A>G
c.1644A>G (p.Gly548=)
c.*625A>G (n.*625A>G)
c.*644A>G (n.*644A>G)
c.822A>G
c.1569A>G (p.Gly523=)
c.*602A>G (n.*602A>G)
c.489A>G (p.Gly163=)
c.201A>G (p.Gly67=)
c.1725A>G (p.Gly575=)
c.1527A>G (p.Gly509=)
c.681A>G (p.Gly227=)
c.636A>G (p.Gly212=)
c.468A>G (p.Gly156=)
c.342A>G (p.Gly114=)
n.1934A>G
12g.32611178A>TCA479167810FGD4c.1233A>T (p.Gly411=)
c.1488A>T (p.Gly496=)
c.954A>T (p.Gly318=)
c.45A>T (p.Gly15=)
n.740A>T
c.1644A>T (p.Gly548=)
c.*625A>T (n.*625A>T)
c.*644A>T (n.*644A>T)
c.822A>T
c.1569A>T (p.Gly523=)
c.*602A>T (n.*602A>T)
c.489A>T (p.Gly163=)
c.201A>T (p.Gly67=)
c.1725A>T (p.Gly575=)
c.1527A>T (p.Gly509=)
c.681A>T (p.Gly227=)
c.636A>T (p.Gly212=)
c.468A>T (p.Gly156=)
c.342A>T (p.Gly114=)
n.1934A>T
12g.32611187_32611189delCA604224658FGD4c.1242_1244del (p.Glu414del)
c.1497_1499del (p.Glu499del)
c.963_965del (p.Glu321del)
c.54_56del (p.Glu18del)
n.749_751del
c.1653_1655del (p.Glu551del)
c.*634_*636del (n.*634_*636del)
c.*653_*655del (n.*653_*655del)
c.831_833del
c.1578_1580del (p.Glu526del)
c.*611_*613del (n.*611_*613del)
c.498_500del (p.Glu166del)
c.210_212del (p.Glu70del)
c.1734_1736del (p.Glu578del)
c.1536_1538del (p.Glu512del)
c.690_692del (p.Glu230del)
c.645_647del (p.Glu215del)
c.477_479del (p.Glu159del)
c.351_353del (p.Glu117del)
n.1943_1945del
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
12g.32611179G>ACA384361030FGD4c.1234G>A (p.Glu412Lys)
c.1489G>A (p.Glu497Lys)
c.955G>A (p.Glu319Lys)
c.46G>A (p.Glu16Lys)
n.741G>A
c.1645G>A (p.Glu549Lys)
c.*626G>A (n.*626G>A)
c.*645G>A (n.*645G>A)
c.823G>A
c.1570G>A (p.Glu524Lys)
c.*603G>A (n.*603G>A)
c.490G>A (p.Glu164Lys)
c.202G>A (p.Glu68Lys)
c.1726G>A (p.Glu576Lys)
c.1528G>A (p.Glu510Lys)
c.682G>A (p.Glu228Lys)
c.637G>A (p.Glu213Lys)
c.469G>A (p.Glu157Lys)
c.343G>A (p.Glu115Lys)
n.1935G>A
12g.32611179G>CCA384361031FGD4c.1234G>C (p.Glu412Gln)
c.1489G>C (p.Glu497Gln)
c.955G>C (p.Glu319Gln)
c.46G>C (p.Glu16Gln)
n.741G>C
c.1645G>C (p.Glu549Gln)
c.*626G>C (n.*626G>C)
c.*645G>C (n.*645G>C)
c.823G>C
c.1570G>C (p.Glu524Gln)
c.*603G>C (n.*603G>C)
c.490G>C (p.Glu164Gln)
c.202G>C (p.Glu68Gln)
c.1726G>C (p.Glu576Gln)
c.1528G>C (p.Glu510Gln)
c.682G>C (p.Glu228Gln)
c.637G>C (p.Glu213Gln)
c.469G>C (p.Glu157Gln)
c.343G>C (p.Glu115Gln)
n.1935G>C
12g.32611179G>TCA384361032FGD4c.1234G>T (p.Glu412Ter)
c.1489G>T (p.Glu497Ter)
c.955G>T (p.Glu319Ter)
c.46G>T (p.Glu16Ter)
n.741G>T
c.1645G>T (p.Glu549Ter)
c.*626G>T (n.*626G>T)
c.*645G>T (n.*645G>T)
c.823G>T
c.1570G>T (p.Glu524Ter)
c.*603G>T (n.*603G>T)
c.490G>T (p.Glu164Ter)
c.202G>T (p.Glu68Ter)
c.1726G>T (p.Glu576Ter)
c.1528G>T (p.Glu510Ter)
c.682G>T (p.Glu228Ter)
c.637G>T (p.Glu213Ter)
c.469G>T (p.Glu157Ter)
c.343G>T (p.Glu115Ter)
n.1935G>T
12g.32611180A>CCA384361033FGD4c.1235A>C (p.Glu412Ala)
c.1490A>C (p.Glu497Ala)
c.956A>C (p.Glu319Ala)
c.47A>C (p.Glu16Ala)
n.742A>C
c.1646A>C (p.Glu549Ala)
c.*627A>C (n.*627A>C)
c.*646A>C (n.*646A>C)
c.824A>C
c.1571A>C (p.Glu524Ala)
c.*604A>C (n.*604A>C)
c.491A>C (p.Glu164Ala)
c.203A>C (p.Glu68Ala)
c.1727A>C (p.Glu576Ala)
c.1529A>C (p.Glu510Ala)
c.683A>C (p.Glu228Ala)
c.638A>C (p.Glu213Ala)
c.470A>C (p.Glu157Ala)
c.344A>C (p.Glu115Ala)
n.1936A>C
12g.32611180A>GCA384361034FGD4c.1235A>G (p.Glu412Gly)
c.1490A>G (p.Glu497Gly)
c.956A>G (p.Glu319Gly)
c.47A>G (p.Glu16Gly)
n.742A>G
c.1646A>G (p.Glu549Gly)
c.*627A>G (n.*627A>G)
c.*646A>G (n.*646A>G)
c.824A>G
c.1571A>G (p.Glu524Gly)
c.*604A>G (n.*604A>G)
c.491A>G (p.Glu164Gly)
c.203A>G (p.Glu68Gly)
c.1727A>G (p.Glu576Gly)
c.1529A>G (p.Glu510Gly)
c.683A>G (p.Glu228Gly)
c.638A>G (p.Glu213Gly)
c.470A>G (p.Glu157Gly)
c.344A>G (p.Glu115Gly)
n.1936A>G
12g.32611180A>TCA384361035FGD4c.1235A>T (p.Glu412Val)
c.1490A>T (p.Glu497Val)
c.956A>T (p.Glu319Val)
c.47A>T (p.Glu16Val)
n.742A>T
c.1646A>T (p.Glu549Val)
c.*627A>T (n.*627A>T)
c.*646A>T (n.*646A>T)
c.824A>T
c.1571A>T (p.Glu524Val)
c.*604A>T (n.*604A>T)
c.491A>T (p.Glu164Val)
c.203A>T (p.Glu68Val)
c.1727A>T (p.Glu576Val)
c.1529A>T (p.Glu510Val)
c.683A>T (p.Glu228Val)
c.638A>T (p.Glu213Val)
c.470A>T (p.Glu157Val)
c.344A>T (p.Glu115Val)
n.1936A>T
12g.32611181A>CCA384361036FGD4c.1236A>C (p.Glu412Asp)
c.1491A>C (p.Glu497Asp)
c.957A>C (p.Glu319Asp)
c.48A>C (p.Glu16Asp)
n.743A>C
c.1647A>C (p.Glu549Asp)
c.*628A>C (n.*628A>C)
c.*647A>C (n.*647A>C)
c.825A>C
c.1572A>C (p.Glu524Asp)
c.*605A>C (n.*605A>C)
c.492A>C (p.Glu164Asp)
c.204A>C (p.Glu68Asp)
c.1728A>C (p.Glu576Asp)
c.1530A>C (p.Glu510Asp)
c.684A>C (p.Glu228Asp)
c.639A>C (p.Glu213Asp)
c.471A>C (p.Glu157Asp)
c.345A>C (p.Glu115Asp)
n.1937A>C
12g.32611181A>GCA479167813FGD4c.1236A>G (p.Glu412=)
c.1491A>G (p.Glu497=)
c.957A>G (p.Glu319=)
c.48A>G (p.Glu16=)
n.743A>G
c.1647A>G (p.Glu549=)
c.*628A>G (n.*628A>G)
c.*647A>G (n.*647A>G)
c.825A>G
c.1572A>G (p.Glu524=)
c.*605A>G (n.*605A>G)
c.492A>G (p.Glu164=)
c.204A>G (p.Glu68=)
c.1728A>G (p.Glu576=)
c.1530A>G (p.Glu510=)
c.684A>G (p.Glu228=)
c.639A>G (p.Glu213=)
c.471A>G (p.Glu157=)
c.345A>G (p.Glu115=)
n.1937A>G
 gnomAD v4
12g.32611181A>TCA384361037FGD4c.1236A>T (p.Glu412Asp)
c.1491A>T (p.Glu497Asp)
c.957A>T (p.Glu319Asp)
c.48A>T (p.Glu16Asp)
n.743A>T
c.1647A>T (p.Glu549Asp)
c.*628A>T (n.*628A>T)
c.*647A>T (n.*647A>T)
c.825A>T
c.1572A>T (p.Glu524Asp)
c.*605A>T (n.*605A>T)
c.492A>T (p.Glu164Asp)
c.204A>T (p.Glu68Asp)
c.1728A>T (p.Glu576Asp)
c.1530A>T (p.Glu510Asp)
c.684A>T (p.Glu228Asp)
c.639A>T (p.Glu213Asp)
c.471A>T (p.Glu157Asp)
c.345A>T (p.Glu115Asp)
n.1937A>T
12g.32611182G>ACA384361038FGD4c.1237G>A (p.Glu413Lys)
c.1492G>A (p.Glu498Lys)
c.958G>A (p.Glu320Lys)
c.49G>A (p.Glu17Lys)
n.744G>A
c.1648G>A (p.Glu550Lys)
c.*629G>A (n.*629G>A)
c.*648G>A (n.*648G>A)
c.826G>A
c.1573G>A (p.Glu525Lys)
c.*606G>A (n.*606G>A)
c.493G>A (p.Glu165Lys)
c.205G>A (p.Glu69Lys)
c.1729G>A (p.Glu577Lys)
c.1531G>A (p.Glu511Lys)
c.685G>A (p.Glu229Lys)
c.640G>A (p.Glu214Lys)
c.472G>A (p.Glu158Lys)
c.346G>A (p.Glu116Lys)
n.1938G>A
12g.32611182G>CCA384361039FGD4c.1237G>C (p.Glu413Gln)
c.1492G>C (p.Glu498Gln)
c.958G>C (p.Glu320Gln)
c.49G>C (p.Glu17Gln)
n.744G>C
c.1648G>C (p.Glu550Gln)
c.*629G>C (n.*629G>C)
c.*648G>C (n.*648G>C)
c.826G>C
c.1573G>C (p.Glu525Gln)
c.*606G>C (n.*606G>C)
c.493G>C (p.Glu165Gln)
c.205G>C (p.Glu69Gln)
c.1729G>C (p.Glu577Gln)
c.1531G>C (p.Glu511Gln)
c.685G>C (p.Glu229Gln)
c.640G>C (p.Glu214Gln)
c.472G>C (p.Glu158Gln)
c.346G>C (p.Glu116Gln)
n.1938G>C
12g.32611182G>TCA384361040FGD4c.1237G>T (p.Glu413Ter)
c.1492G>T (p.Glu498Ter)
c.958G>T (p.Glu320Ter)
c.49G>T (p.Glu17Ter)
n.744G>T
c.1648G>T (p.Glu550Ter)
c.*629G>T (n.*629G>T)
c.*648G>T (n.*648G>T)
c.826G>T
c.1573G>T (p.Glu525Ter)
c.*606G>T (n.*606G>T)
c.493G>T (p.Glu165Ter)
c.205G>T (p.Glu69Ter)
c.1729G>T (p.Glu577Ter)
c.1531G>T (p.Glu511Ter)
c.685G>T (p.Glu229Ter)
c.640G>T (p.Glu214Ter)
c.472G>T (p.Glu158Ter)
c.346G>T (p.Glu116Ter)
n.1938G>T
12g.32611183A>CCA384361043FGD4c.1238A>C (p.Glu413Ala)
c.1493A>C (p.Glu498Ala)
c.959A>C (p.Glu320Ala)
c.50A>C (p.Glu17Ala)
n.745A>C
c.1649A>C (p.Glu550Ala)
c.*630A>C (n.*630A>C)
c.*649A>C (n.*649A>C)
c.827A>C
c.1574A>C (p.Glu525Ala)
c.*607A>C (n.*607A>C)
c.494A>C (p.Glu165Ala)
c.206A>C (p.Glu69Ala)
c.1730A>C (p.Glu577Ala)
c.1532A>C (p.Glu511Ala)
c.686A>C (p.Glu229Ala)
c.641A>C (p.Glu214Ala)
c.473A>C (p.Glu158Ala)
c.347A>C (p.Glu116Ala)
n.1939A>C
12g.32611183A>GCA384361042FGD4c.1238A>G (p.Glu413Gly)
c.1493A>G (p.Glu498Gly)
c.959A>G (p.Glu320Gly)
c.50A>G (p.Glu17Gly)
n.745A>G
c.1649A>G (p.Glu550Gly)
c.*630A>G (n.*630A>G)
c.*649A>G (n.*649A>G)
c.827A>G
c.1574A>G (p.Glu525Gly)
c.*607A>G (n.*607A>G)
c.494A>G (p.Glu165Gly)
c.206A>G (p.Glu69Gly)
c.1730A>G (p.Glu577Gly)
c.1532A>G (p.Glu511Gly)
c.686A>G (p.Glu229Gly)
c.641A>G (p.Glu214Gly)
c.473A>G (p.Glu158Gly)
c.347A>G (p.Glu116Gly)
n.1939A>G
 gnomAD v4
12g.32611183A>TCA384361041FGD4c.1238A>T (p.Glu413Val)
c.1493A>T (p.Glu498Val)
c.959A>T (p.Glu320Val)
c.50A>T (p.Glu17Val)
n.745A>T
c.1649A>T (p.Glu550Val)
c.*630A>T (n.*630A>T)
c.*649A>T (n.*649A>T)
c.827A>T
c.1574A>T (p.Glu525Val)
c.*607A>T (n.*607A>T)
c.494A>T (p.Glu165Val)
c.206A>T (p.Glu69Val)
c.1730A>T (p.Glu577Val)
c.1532A>T (p.Glu511Val)
c.686A>T (p.Glu229Val)
c.641A>T (p.Glu214Val)
c.473A>T (p.Glu158Val)
c.347A>T (p.Glu116Val)
n.1939A>T
12g.32611184A=CA2026267789FGD4c.1239A= (p.Glu413=)
c.1494A= (p.Glu498=)
c.960A= (p.Glu320=)
c.51A= (p.Glu17=)
n.746A=
c.1650A= (p.Glu550=)
c.*631A= (n.*631A=)
c.*650A= (n.*650A=)
c.828A=
c.1575A= (p.Glu525=)
c.*608A= (n.*608A=)
c.495A= (p.Glu165=)
c.207A= (p.Glu69=)
c.1731A= (p.Glu577=)
c.1533A= (p.Glu511=)
c.687A= (p.Glu229=)
c.642A= (p.Glu214=)
c.474A= (p.Glu158=)
c.348A= (p.Glu116=)
n.1940A=
12g.32611184A>CCA384361044FGD4c.1239A>C (p.Glu413Asp)
c.1494A>C (p.Glu498Asp)
c.960A>C (p.Glu320Asp)
c.51A>C (p.Glu17Asp)
n.746A>C
c.1650A>C (p.Glu550Asp)
c.*631A>C (n.*631A>C)
c.*650A>C (n.*650A>C)
c.828A>C
c.1575A>C (p.Glu525Asp)
c.*608A>C (n.*608A>C)
c.495A>C (p.Glu165Asp)
c.207A>C (p.Glu69Asp)
c.1731A>C (p.Glu577Asp)
c.1533A>C (p.Glu511Asp)
c.687A>C (p.Glu229Asp)
c.642A>C (p.Glu214Asp)
c.474A>C (p.Glu158Asp)
c.348A>C (p.Glu116Asp)
n.1940A>C
 ClinVar dbSNP
12g.32611184A>GCA479167818FGD4c.1239A>G (p.Glu413=)
c.1494A>G (p.Glu498=)
c.960A>G (p.Glu320=)
c.51A>G (p.Glu17=)
n.746A>G
c.1650A>G (p.Glu550=)
c.*631A>G (n.*631A>G)
c.*650A>G (n.*650A>G)
c.828A>G
c.1575A>G (p.Glu525=)
c.*608A>G (n.*608A>G)
c.495A>G (p.Glu165=)
c.207A>G (p.Glu69=)
c.1731A>G (p.Glu577=)
c.1533A>G (p.Glu511=)
c.687A>G (p.Glu229=)
c.642A>G (p.Glu214=)
c.474A>G (p.Glu158=)
c.348A>G (p.Glu116=)
n.1940A>G
12g.32611184A>TCA384361045FGD4c.1239A>T (p.Glu413Asp)
c.1494A>T (p.Glu498Asp)
c.960A>T (p.Glu320Asp)
c.51A>T (p.Glu17Asp)
n.746A>T
c.1650A>T (p.Glu550Asp)
c.*631A>T (n.*631A>T)
c.*650A>T (n.*650A>T)
c.828A>T
c.1575A>T (p.Glu525Asp)
c.*608A>T (n.*608A>T)
c.495A>T (p.Glu165Asp)
c.207A>T (p.Glu69Asp)
c.1731A>T (p.Glu577Asp)
c.1533A>T (p.Glu511Asp)
c.687A>T (p.Glu229Asp)
c.642A>T (p.Glu214Asp)
c.474A>T (p.Glu158Asp)
c.348A>T (p.Glu116Asp)
n.1940A>T
12g.32611185G>ACA384361046FGD4c.1240G>A (p.Glu414Lys)
c.1495G>A (p.Glu499Lys)
c.961G>A (p.Glu321Lys)
c.52G>A (p.Glu18Lys)
n.747G>A
c.1651G>A (p.Glu551Lys)
c.*632G>A (n.*632G>A)
c.*651G>A (n.*651G>A)
c.829G>A
c.1576G>A (p.Glu526Lys)
c.*609G>A (n.*609G>A)
c.496G>A (p.Glu166Lys)
c.208G>A (p.Glu70Lys)
c.1732G>A (p.Glu578Lys)
c.1534G>A (p.Glu512Lys)
c.688G>A (p.Glu230Lys)
c.643G>A (p.Glu215Lys)
c.475G>A (p.Glu159Lys)
c.349G>A (p.Glu117Lys)
n.1941G>A
12g.32611185G>CCA384361047FGD4c.1240G>C (p.Glu414Gln)
c.1495G>C (p.Glu499Gln)
c.961G>C (p.Glu321Gln)
c.52G>C (p.Glu18Gln)
n.747G>C
c.1651G>C (p.Glu551Gln)
c.*632G>C (n.*632G>C)
c.*651G>C (n.*651G>C)
c.829G>C
c.1576G>C (p.Glu526Gln)
c.*609G>C (n.*609G>C)
c.496G>C (p.Glu166Gln)
c.208G>C (p.Glu70Gln)
c.1732G>C (p.Glu578Gln)
c.1534G>C (p.Glu512Gln)
c.688G>C (p.Glu230Gln)
c.643G>C (p.Glu215Gln)
c.475G>C (p.Glu159Gln)
c.349G>C (p.Glu117Gln)
n.1941G>C
12g.32611185G>TCA384361048FGD4c.1240G>T (p.Glu414Ter)
c.1495G>T (p.Glu499Ter)
c.961G>T (p.Glu321Ter)
c.52G>T (p.Glu18Ter)
n.747G>T
c.1651G>T (p.Glu551Ter)
c.*632G>T (n.*632G>T)
c.*651G>T (n.*651G>T)
c.829G>T
c.1576G>T (p.Glu526Ter)
c.*609G>T (n.*609G>T)
c.496G>T (p.Glu166Ter)
c.208G>T (p.Glu70Ter)
c.1732G>T (p.Glu578Ter)
c.1534G>T (p.Glu512Ter)
c.688G>T (p.Glu230Ter)
c.643G>T (p.Glu215Ter)
c.475G>T (p.Glu159Ter)
c.349G>T (p.Glu117Ter)
n.1941G>T
12g.32611186A>CCA384361049FGD4c.1241A>C (p.Glu414Ala)
c.1496A>C (p.Glu499Ala)
c.962A>C (p.Glu321Ala)
c.53A>C (p.Glu18Ala)
n.748A>C
c.1652A>C (p.Glu551Ala)
c.*633A>C (n.*633A>C)
c.*652A>C (n.*652A>C)
c.830A>C
c.1577A>C (p.Glu526Ala)
c.*610A>C (n.*610A>C)
c.497A>C (p.Glu166Ala)
c.209A>C (p.Glu70Ala)
c.1733A>C (p.Glu578Ala)
c.1535A>C (p.Glu512Ala)
c.689A>C (p.Glu230Ala)
c.644A>C (p.Glu215Ala)
c.476A>C (p.Glu159Ala)
c.350A>C (p.Glu117Ala)
n.1942A>C
12g.32611186A>GCA384361050FGD4c.1241A>G (p.Glu414Gly)
c.1496A>G (p.Glu499Gly)
c.962A>G (p.Glu321Gly)
c.53A>G (p.Glu18Gly)
n.748A>G
c.1652A>G (p.Glu551Gly)
c.*633A>G (n.*633A>G)
c.*652A>G (n.*652A>G)
c.830A>G
c.1577A>G (p.Glu526Gly)
c.*610A>G (n.*610A>G)
c.497A>G (p.Glu166Gly)
c.209A>G (p.Glu70Gly)
c.1733A>G (p.Glu578Gly)
c.1535A>G (p.Glu512Gly)
c.689A>G (p.Glu230Gly)
c.644A>G (p.Glu215Gly)
c.476A>G (p.Glu159Gly)
c.350A>G (p.Glu117Gly)
n.1942A>G
12g.32611186A>TCA384361051FGD4c.1241A>T (p.Glu414Val)
c.1496A>T (p.Glu499Val)
c.962A>T (p.Glu321Val)
c.53A>T (p.Glu18Val)
n.748A>T
c.1652A>T (p.Glu551Val)
c.*633A>T (n.*633A>T)
c.*652A>T (n.*652A>T)
c.830A>T
c.1577A>T (p.Glu526Val)
c.*610A>T (n.*610A>T)
c.497A>T (p.Glu166Val)
c.209A>T (p.Glu70Val)
c.1733A>T (p.Glu578Val)
c.1535A>T (p.Glu512Val)
c.689A>T (p.Glu230Val)
c.644A>T (p.Glu215Val)
c.476A>T (p.Glu159Val)
c.350A>T (p.Glu117Val)
n.1942A>T
12g.32611187A=CA2026267790FGD4c.1242A= (p.Glu414=)
c.1497A= (p.Glu499=)
c.963A= (p.Glu321=)
c.54A= (p.Glu18=)
n.749A=
c.1653A= (p.Glu551=)
c.*634A= (n.*634A=)
c.*653A= (n.*653A=)
c.831A=
c.1578A= (p.Glu526=)
c.*611A= (n.*611A=)
c.498A= (p.Glu166=)
c.210A= (p.Glu70=)
c.1734A= (p.Glu578=)
c.1536A= (p.Glu512=)
c.690A= (p.Glu230=)
c.645A= (p.Glu215=)
c.477A= (p.Glu159=)
c.351A= (p.Glu117=)
n.1943A=
12g.32611187A>CCA384361052FGD4c.1242A>C (p.Glu414Asp)
c.1497A>C (p.Glu499Asp)
c.963A>C (p.Glu321Asp)
c.54A>C (p.Glu18Asp)
n.749A>C
c.1653A>C (p.Glu551Asp)
c.*634A>C (n.*634A>C)
c.*653A>C (n.*653A>C)
c.831A>C
c.1578A>C (p.Glu526Asp)
c.*611A>C (n.*611A>C)
c.498A>C (p.Glu166Asp)
c.210A>C (p.Glu70Asp)
c.1734A>C (p.Glu578Asp)
c.1536A>C (p.Glu512Asp)
c.690A>C (p.Glu230Asp)
c.645A>C (p.Glu215Asp)
c.477A>C (p.Glu159Asp)
c.351A>C (p.Glu117Asp)
n.1943A>C
12g.32611187A>GCA479167823FGD4c.1242A>G (p.Glu414=)
c.1497A>G (p.Glu499=)
c.963A>G (p.Glu321=)
c.54A>G (p.Glu18=)
n.749A>G
c.1653A>G (p.Glu551=)
c.*634A>G (n.*634A>G)
c.*653A>G (n.*653A>G)
c.831A>G
c.1578A>G (p.Glu526=)
c.*611A>G (n.*611A>G)
c.498A>G (p.Glu166=)
c.210A>G (p.Glu70=)
c.1734A>G (p.Glu578=)
c.1536A>G (p.Glu512=)
c.690A>G (p.Glu230=)
c.645A>G (p.Glu215=)
c.477A>G (p.Glu159=)
c.351A>G (p.Glu117=)
n.1943A>G
 dbSNP gnomAD v2 gnomAD v4
12g.32611187A>TCA384361053FGD4c.1242A>T (p.Glu414Asp)
c.1497A>T (p.Glu499Asp)
c.963A>T (p.Glu321Asp)
c.54A>T (p.Glu18Asp)
n.749A>T
c.1653A>T (p.Glu551Asp)
c.*634A>T (n.*634A>T)
c.*653A>T (n.*653A>T)
c.831A>T
c.1578A>T (p.Glu526Asp)
c.*611A>T (n.*611A>T)
c.498A>T (p.Glu166Asp)
c.210A>T (p.Glu70Asp)
c.1734A>T (p.Glu578Asp)
c.1536A>T (p.Glu512Asp)
c.690A>T (p.Glu230Asp)
c.645A>T (p.Glu215Asp)
c.477A>T (p.Glu159Asp)
c.351A>T (p.Glu117Asp)
n.1943A>T
12g.32611188G>ACA384361054FGD4c.1243G>A (p.Asp415Asn)
c.1498G>A (p.Asp500Asn)
c.964G>A (p.Asp322Asn)
c.55G>A (p.Asp19Asn)
n.750G>A
c.1654G>A (p.Asp552Asn)
c.*635G>A (n.*635G>A)
c.*654G>A (n.*654G>A)
c.832G>A
c.1579G>A (p.Asp527Asn)
c.*612G>A (n.*612G>A)
c.499G>A (p.Asp167Asn)
c.211G>A (p.Asp71Asn)
c.1735G>A (p.Asp579Asn)
c.1537G>A (p.Asp513Asn)
c.691G>A (p.Asp231Asn)
c.646G>A (p.Asp216Asn)
c.478G>A (p.Asp160Asn)
c.352G>A (p.Asp118Asn)
n.1944G>A
12g.32611188G>CCA384361055FGD4c.1243G>C (p.Asp415His)
c.1498G>C (p.Asp500His)
c.964G>C (p.Asp322His)
c.55G>C (p.Asp19His)
n.750G>C
c.1654G>C (p.Asp552His)
c.*635G>C (n.*635G>C)
c.*654G>C (n.*654G>C)
c.832G>C
c.1579G>C (p.Asp527His)
c.*612G>C (n.*612G>C)
c.499G>C (p.Asp167His)
c.211G>C (p.Asp71His)
c.1735G>C (p.Asp579His)
c.1537G>C (p.Asp513His)
c.691G>C (p.Asp231His)
c.646G>C (p.Asp216His)
c.478G>C (p.Asp160His)
c.352G>C (p.Asp118His)
n.1944G>C
12g.32611188G>TCA384361056FGD4c.1243G>T (p.Asp415Tyr)
c.1498G>T (p.Asp500Tyr)
c.964G>T (p.Asp322Tyr)
c.55G>T (p.Asp19Tyr)
n.750G>T
c.1654G>T (p.Asp552Tyr)
c.*635G>T (n.*635G>T)
c.*654G>T (n.*654G>T)
c.832G>T
c.1579G>T (p.Asp527Tyr)
c.*612G>T (n.*612G>T)
c.499G>T (p.Asp167Tyr)
c.211G>T (p.Asp71Tyr)
c.1735G>T (p.Asp579Tyr)
c.1537G>T (p.Asp513Tyr)
c.691G>T (p.Asp231Tyr)
c.646G>T (p.Asp216Tyr)
c.478G>T (p.Asp160Tyr)
c.352G>T (p.Asp118Tyr)
n.1944G>T
12g.32611189A>CCA384361059FGD4c.1244A>C (p.Asp415Ala)
c.1499A>C (p.Asp500Ala)
c.965A>C (p.Asp322Ala)
c.56A>C (p.Asp19Ala)
n.751A>C
c.1655A>C (p.Asp552Ala)
c.*636A>C (n.*636A>C)
c.*655A>C (n.*655A>C)
c.833A>C
c.1580A>C (p.Asp527Ala)
c.*613A>C (n.*613A>C)
c.500A>C (p.Asp167Ala)
c.212A>C (p.Asp71Ala)
c.1736A>C (p.Asp579Ala)
c.1538A>C (p.Asp513Ala)
c.692A>C (p.Asp231Ala)
c.647A>C (p.Asp216Ala)
c.479A>C (p.Asp160Ala)
c.353A>C (p.Asp118Ala)
n.1945A>C
12g.32611189A>GCA384361058FGD4c.1244A>G (p.Asp415Gly)
c.1499A>G (p.Asp500Gly)
c.965A>G (p.Asp322Gly)
c.56A>G (p.Asp19Gly)
n.751A>G
c.1655A>G (p.Asp552Gly)
c.*636A>G (n.*636A>G)
c.*655A>G (n.*655A>G)
c.833A>G
c.1580A>G (p.Asp527Gly)
c.*613A>G (n.*613A>G)
c.500A>G (p.Asp167Gly)
c.212A>G (p.Asp71Gly)
c.1736A>G (p.Asp579Gly)
c.1538A>G (p.Asp513Gly)
c.692A>G (p.Asp231Gly)
c.647A>G (p.Asp216Gly)
c.479A>G (p.Asp160Gly)
c.353A>G (p.Asp118Gly)
n.1945A>G
12g.32611189A>TCA384361057FGD4c.1244A>T (p.Asp415Val)
c.1499A>T (p.Asp500Val)
c.965A>T (p.Asp322Val)
c.56A>T (p.Asp19Val)
n.751A>T
c.1655A>T (p.Asp552Val)
c.*636A>T (n.*636A>T)
c.*655A>T (n.*655A>T)
c.833A>T
c.1580A>T (p.Asp527Val)
c.*613A>T (n.*613A>T)
c.500A>T (p.Asp167Val)
c.212A>T (p.Asp71Val)
c.1736A>T (p.Asp579Val)
c.1538A>T (p.Asp513Val)
c.692A>T (p.Asp231Val)
c.647A>T (p.Asp216Val)
c.479A>T (p.Asp160Val)
c.353A>T (p.Asp118Val)
n.1945A>T
12g.32611190C>ACA6506851FGD4c.1245C>A (p.Asp415Glu)
c.1500C>A (p.Asp500Glu)
c.966C>A (p.Asp322Glu)
c.57C>A (p.Asp19Glu)
n.752C>A
c.1656C>A (p.Asp552Glu)
c.*637C>A (n.*637C>A)
c.*656C>A (n.*656C>A)
c.834C>A
c.1581C>A (p.Asp527Glu)
c.*614C>A (n.*614C>A)
c.501C>A (p.Asp167Glu)
c.213C>A (p.Asp71Glu)
c.1737C>A (p.Asp579Glu)
c.1539C>A (p.Asp513Glu)
c.693C>A (p.Asp231Glu)
c.648C>A (p.Asp216Glu)
c.480C>A (p.Asp160Glu)
c.354C>A (p.Asp118Glu)
n.1946C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32611190C=CA2026267791FGD4c.1245C= (p.Asp415=)
c.1500C= (p.Asp500=)
c.966C= (p.Asp322=)
c.57C= (p.Asp19=)
n.752C=
c.1656C= (p.Asp552=)
c.*637C= (n.*637C=)
c.*656C= (n.*656C=)
c.834C=
c.1581C= (p.Asp527=)
c.*614C= (n.*614C=)
c.501C= (p.Asp167=)
c.213C= (p.Asp71=)
c.1737C= (p.Asp579=)
c.1539C= (p.Asp513=)
c.693C= (p.Asp231=)
c.648C= (p.Asp216=)
c.480C= (p.Asp160=)
c.354C= (p.Asp118=)
n.1946C=
12g.32611190C>GCA384361060FGD4c.1245C>G (p.Asp415Glu)
c.1500C>G (p.Asp500Glu)
c.966C>G (p.Asp322Glu)
c.57C>G (p.Asp19Glu)
n.752C>G
c.1656C>G (p.Asp552Glu)
c.*637C>G (n.*637C>G)
c.*656C>G (n.*656C>G)
c.834C>G
c.1581C>G (p.Asp527Glu)
c.*614C>G (n.*614C>G)
c.501C>G (p.Asp167Glu)
c.213C>G (p.Asp71Glu)
c.1737C>G (p.Asp579Glu)
c.1539C>G (p.Asp513Glu)
c.693C>G (p.Asp231Glu)
c.648C>G (p.Asp216Glu)
c.480C>G (p.Asp160Glu)
c.354C>G (p.Asp118Glu)
n.1946C>G
12g.32611190C>TCA6506852FGD4c.1245C>T (p.Asp415=)
c.1500C>T (p.Asp500=)
c.966C>T (p.Asp322=)
c.57C>T (p.Asp19=)
n.752C>T
c.1656C>T (p.Asp552=)
c.*637C>T (n.*637C>T)
c.*656C>T (n.*656C>T)
c.834C>T
c.1581C>T (p.Asp527=)
c.*614C>T (n.*614C>T)
c.501C>T (p.Asp167=)
c.213C>T (p.Asp71=)
c.1737C>T (p.Asp579=)
c.1539C>T (p.Asp513=)
c.693C>T (p.Asp231=)
c.648C>T (p.Asp216=)
c.480C>T (p.Asp160=)
c.354C>T (p.Asp118=)
n.1946C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611191A=CA2026267792FGD4c.1246A= (p.Ile416=)
c.1501A= (p.Ile501=)
c.967A= (p.Ile323=)
c.58A= (p.Ile20=)
n.753A=
c.1657A= (p.Ile553=)
c.*638A= (n.*638A=)
c.*657A= (n.*657A=)
c.835A=
c.1582A= (p.Ile528=)
c.*615A= (n.*615A=)
c.502A= (p.Ile168=)
c.214A= (p.Ile72=)
c.1738A= (p.Ile580=)
c.1540A= (p.Ile514=)
c.694A= (p.Ile232=)
c.649A= (p.Ile217=)
c.481A= (p.Ile161=)
c.355A= (p.Ile119=)
n.1947A=
12g.32611191A>CCA384361061FGD4c.1246A>C (p.Ile416Leu)
c.1501A>C (p.Ile501Leu)
c.967A>C (p.Ile323Leu)
c.58A>C (p.Ile20Leu)
n.753A>C
c.1657A>C (p.Ile553Leu)
c.*638A>C (n.*638A>C)
c.*657A>C (n.*657A>C)
c.835A>C
c.1582A>C (p.Ile528Leu)
c.*615A>C (n.*615A>C)
c.502A>C (p.Ile168Leu)
c.214A>C (p.Ile72Leu)
c.1738A>C (p.Ile580Leu)
c.1540A>C (p.Ile514Leu)
c.694A>C (p.Ile232Leu)
c.649A>C (p.Ile217Leu)
c.481A>C (p.Ile161Leu)
c.355A>C (p.Ile119Leu)
n.1947A>C
12g.32611191A>GCA16614114FGD4c.1246A>G (p.Ile416Val)
c.1501A>G (p.Ile501Val)
c.967A>G (p.Ile323Val)
c.58A>G (p.Ile20Val)
n.753A>G
c.1657A>G (p.Ile553Val)
c.*638A>G (n.*638A>G)
c.*657A>G (n.*657A>G)
c.835A>G
c.1582A>G (p.Ile528Val)
c.*615A>G (n.*615A>G)
c.502A>G (p.Ile168Val)
c.214A>G (p.Ile72Val)
c.1738A>G (p.Ile580Val)
c.1540A>G (p.Ile514Val)
c.694A>G (p.Ile232Val)
c.649A>G (p.Ile217Val)
c.481A>G (p.Ile161Val)
c.355A>G (p.Ile119Val)
n.1947A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32611191A>TCA384361062FGD4c.1246A>T (p.Ile416Phe)
c.1501A>T (p.Ile501Phe)
c.967A>T (p.Ile323Phe)
c.58A>T (p.Ile20Phe)
n.753A>T
c.1657A>T (p.Ile553Phe)
c.*638A>T (n.*638A>T)
c.*657A>T (n.*657A>T)
c.835A>T
c.1582A>T (p.Ile528Phe)
c.*615A>T (n.*615A>T)
c.502A>T (p.Ile168Phe)
c.214A>T (p.Ile72Phe)
c.1738A>T (p.Ile580Phe)
c.1540A>T (p.Ile514Phe)
c.694A>T (p.Ile232Phe)
c.649A>T (p.Ile217Phe)
c.481A>T (p.Ile161Phe)
c.355A>T (p.Ile119Phe)
n.1947A>T
12g.32611192T>ACA384361063FGD4c.1247T>A (p.Ile416Asn)
c.1502T>A (p.Ile501Asn)
c.968T>A (p.Ile323Asn)
c.59T>A (p.Ile20Asn)
n.754T>A
c.1658T>A (p.Ile553Asn)
c.*639T>A (n.*639T>A)
c.*658T>A (n.*658T>A)
c.836T>A
c.1583T>A (p.Ile528Asn)
c.*616T>A (n.*616T>A)
c.503T>A (p.Ile168Asn)
c.215T>A (p.Ile72Asn)
c.1739T>A (p.Ile580Asn)
c.1541T>A (p.Ile514Asn)
c.695T>A (p.Ile232Asn)
c.650T>A (p.Ile217Asn)
c.482T>A (p.Ile161Asn)
c.356T>A (p.Ile119Asn)
n.1948T>A
12g.32611192T>CCA384361064FGD4c.1247T>C (p.Ile416Thr)
c.1502T>C (p.Ile501Thr)
c.968T>C (p.Ile323Thr)
c.59T>C (p.Ile20Thr)
n.754T>C
c.1658T>C (p.Ile553Thr)
c.*639T>C (n.*639T>C)
c.*658T>C (n.*658T>C)
c.836T>C
c.1583T>C (p.Ile528Thr)
c.*616T>C (n.*616T>C)
c.503T>C (p.Ile168Thr)
c.215T>C (p.Ile72Thr)
c.1739T>C (p.Ile580Thr)
c.1541T>C (p.Ile514Thr)
c.695T>C (p.Ile232Thr)
c.650T>C (p.Ile217Thr)
c.482T>C (p.Ile161Thr)
c.356T>C (p.Ile119Thr)
n.1948T>C
12g.32611192T>GCA384361065FGD4c.1247T>G (p.Ile416Ser)
c.1502T>G (p.Ile501Ser)
c.968T>G (p.Ile323Ser)
c.59T>G (p.Ile20Ser)
n.754T>G
c.1658T>G (p.Ile553Ser)
c.*639T>G (n.*639T>G)
c.*658T>G (n.*658T>G)
c.836T>G
c.1583T>G (p.Ile528Ser)
c.*616T>G (n.*616T>G)
c.503T>G (p.Ile168Ser)
c.215T>G (p.Ile72Ser)
c.1739T>G (p.Ile580Ser)
c.1541T>G (p.Ile514Ser)
c.695T>G (p.Ile232Ser)
c.650T>G (p.Ile217Ser)
c.482T>G (p.Ile161Ser)
c.356T>G (p.Ile119Ser)
n.1948T>G
12g.32611193T>ACA479167830FGD4c.1248T>A (p.Ile416=)
c.1503T>A (p.Ile501=)
c.969T>A (p.Ile323=)
c.60T>A (p.Ile20=)
n.755T>A
c.1659T>A (p.Ile553=)
c.*640T>A (n.*640T>A)
c.*659T>A (n.*659T>A)
c.837T>A
c.1584T>A (p.Ile528=)
c.*617T>A (n.*617T>A)
c.504T>A (p.Ile168=)
c.216T>A (p.Ile72=)
c.1740T>A (p.Ile580=)
c.1542T>A (p.Ile514=)
c.696T>A (p.Ile232=)
c.651T>A (p.Ile217=)
c.483T>A (p.Ile161=)
c.357T>A (p.Ile119=)
n.1949T>A
12g.32611193T>CCA479167831FGD4c.1248T>C (p.Ile416=)
c.1503T>C (p.Ile501=)
c.969T>C (p.Ile323=)
c.60T>C (p.Ile20=)
n.755T>C
c.1659T>C (p.Ile553=)
c.*640T>C (n.*640T>C)
c.*659T>C (n.*659T>C)
c.837T>C
c.1584T>C (p.Ile528=)
c.*617T>C (n.*617T>C)
c.504T>C (p.Ile168=)
c.216T>C (p.Ile72=)
c.1740T>C (p.Ile580=)
c.1542T>C (p.Ile514=)
c.696T>C (p.Ile232=)
c.651T>C (p.Ile217=)
c.483T>C (p.Ile161=)
c.357T>C (p.Ile119=)
n.1949T>C
12g.32611193T>GCA384361066FGD4c.1248T>G (p.Ile416Met)
c.1503T>G (p.Ile501Met)
c.969T>G (p.Ile323Met)
c.60T>G (p.Ile20Met)
n.755T>G
c.1659T>G (p.Ile553Met)
c.*640T>G (n.*640T>G)
c.*659T>G (n.*659T>G)
c.837T>G
c.1584T>G (p.Ile528Met)
c.*617T>G (n.*617T>G)
c.504T>G (p.Ile168Met)
c.216T>G (p.Ile72Met)
c.1740T>G (p.Ile580Met)
c.1542T>G (p.Ile514Met)
c.696T>G (p.Ile232Met)
c.651T>G (p.Ile217Met)
c.483T>G (p.Ile161Met)
c.357T>G (p.Ile119Met)
n.1949T>G
12g.32611194G>ACA384361067FGD4c.1249G>A (p.Val417Ile)
c.1504G>A (p.Val502Ile)
c.970G>A (p.Val324Ile)
c.61G>A (p.Val21Ile)
n.756G>A
c.1660G>A (p.Val554Ile)
c.*641G>A (n.*641G>A)
c.*660G>A (n.*660G>A)
c.838G>A
c.1585G>A (p.Val529Ile)
c.*618G>A (n.*618G>A)
c.505G>A (p.Val169Ile)
c.217G>A (p.Val73Ile)
c.1741G>A (p.Val581Ile)
c.1543G>A (p.Val515Ile)
c.697G>A (p.Val233Ile)
c.652G>A (p.Val218Ile)
c.484G>A (p.Val162Ile)
c.358G>A (p.Val120Ile)
n.1950G>A
 dbSNP gnomAD v2 gnomAD v4
12g.32611194G>CCA384361068FGD4c.1249G>C (p.Val417Leu)
c.1504G>C (p.Val502Leu)
c.970G>C (p.Val324Leu)
c.61G>C (p.Val21Leu)
n.756G>C
c.1660G>C (p.Val554Leu)
c.*641G>C (n.*641G>C)
c.*660G>C (n.*660G>C)
c.838G>C
c.1585G>C (p.Val529Leu)
c.*618G>C (n.*618G>C)
c.505G>C (p.Val169Leu)
c.217G>C (p.Val73Leu)
c.1741G>C (p.Val581Leu)
c.1543G>C (p.Val515Leu)
c.697G>C (p.Val233Leu)
c.652G>C (p.Val218Leu)
c.484G>C (p.Val162Leu)
c.358G>C (p.Val120Leu)
n.1950G>C
12g.32611194G=CA2026267793FGD4c.1249G= (p.Val417=)
c.1504G= (p.Val502=)
c.970G= (p.Val324=)
c.61G= (p.Val21=)
n.756G=
c.1660G= (p.Val554=)
c.*641G= (n.*641G=)
c.*660G= (n.*660G=)
c.838G=
c.1585G= (p.Val529=)
c.*618G= (n.*618G=)
c.505G= (p.Val169=)
c.217G= (p.Val73=)
c.1741G= (p.Val581=)
c.1543G= (p.Val515=)
c.697G= (p.Val233=)
c.652G= (p.Val218=)
c.484G= (p.Val162=)
c.358G= (p.Val120=)
n.1950G=
12g.32611194G>TCA384361069FGD4c.1249G>T (p.Val417Leu)
c.1504G>T (p.Val502Leu)
c.970G>T (p.Val324Leu)
c.61G>T (p.Val21Leu)
n.756G>T
c.1660G>T (p.Val554Leu)
c.*641G>T (n.*641G>T)
c.*660G>T (n.*660G>T)
c.838G>T
c.1585G>T (p.Val529Leu)
c.*618G>T (n.*618G>T)
c.505G>T (p.Val169Leu)
c.217G>T (p.Val73Leu)
c.1741G>T (p.Val581Leu)
c.1543G>T (p.Val515Leu)
c.697G>T (p.Val233Leu)
c.652G>T (p.Val218Leu)
c.484G>T (p.Val162Leu)
c.358G>T (p.Val120Leu)
n.1950G>T
 gnomAD v4
12g.32611195T>ACA384361071FGD4c.1250T>A (p.Val417Glu)
c.1505T>A (p.Val502Glu)
c.971T>A (p.Val324Glu)
c.62T>A (p.Val21Glu)
n.757T>A
c.1661T>A (p.Val554Glu)
c.*642T>A (n.*642T>A)
c.*661T>A (n.*661T>A)
c.839T>A
c.1586T>A (p.Val529Glu)
c.*619T>A (n.*619T>A)
c.506T>A (p.Val169Glu)
c.218T>A (p.Val73Glu)
c.1742T>A (p.Val581Glu)
c.1544T>A (p.Val515Glu)
c.698T>A (p.Val233Glu)
c.653T>A (p.Val218Glu)
c.485T>A (p.Val162Glu)
c.359T>A (p.Val120Glu)
n.1951T>A
12g.32611195T>CCA384361072FGD4c.1250T>C (p.Val417Ala)
c.1505T>C (p.Val502Ala)
c.971T>C (p.Val324Ala)
c.62T>C (p.Val21Ala)
n.757T>C
c.1661T>C (p.Val554Ala)
c.*642T>C (n.*642T>C)
c.*661T>C (n.*661T>C)
c.839T>C
c.1586T>C (p.Val529Ala)
c.*619T>C (n.*619T>C)
c.506T>C (p.Val169Ala)
c.218T>C (p.Val73Ala)
c.1742T>C (p.Val581Ala)
c.1544T>C (p.Val515Ala)
c.698T>C (p.Val233Ala)
c.653T>C (p.Val218Ala)
c.485T>C (p.Val162Ala)
c.359T>C (p.Val120Ala)
n.1951T>C
12g.32611195T>GCA384361070FGD4c.1250T>G (p.Val417Gly)
c.1505T>G (p.Val502Gly)
c.971T>G (p.Val324Gly)
c.62T>G (p.Val21Gly)
n.757T>G
c.1661T>G (p.Val554Gly)
c.*642T>G (n.*642T>G)
c.*661T>G (n.*661T>G)
c.839T>G
c.1586T>G (p.Val529Gly)
c.*619T>G (n.*619T>G)
c.506T>G (p.Val169Gly)
c.218T>G (p.Val73Gly)
c.1742T>G (p.Val581Gly)
c.1544T>G (p.Val515Gly)
c.698T>G (p.Val233Gly)
c.653T>G (p.Val218Gly)
c.485T>G (p.Val162Gly)
c.359T>G (p.Val120Gly)
n.1951T>G
12g.32611196A>CCA479167835FGD4c.1251A>C (p.Val417=)
c.1506A>C (p.Val502=)
c.972A>C (p.Val324=)
c.63A>C (p.Val21=)
n.758A>C
c.1662A>C (p.Val554=)
c.*643A>C (n.*643A>C)
c.*662A>C (n.*662A>C)
c.840A>C
c.1587A>C (p.Val529=)
c.*620A>C (n.*620A>C)
c.507A>C (p.Val169=)
c.219A>C (p.Val73=)
c.1743A>C (p.Val581=)
c.1545A>C (p.Val515=)
c.699A>C (p.Val233=)
c.654A>C (p.Val218=)
c.486A>C (p.Val162=)
c.360A>C (p.Val120=)
n.1952A>C
12g.32611196A>GCA479167839FGD4c.1251A>G (p.Val417=)
c.1506A>G (p.Val502=)
c.972A>G (p.Val324=)
c.63A>G (p.Val21=)
n.758A>G
c.1662A>G (p.Val554=)
c.*643A>G (n.*643A>G)
c.*662A>G (n.*662A>G)
c.840A>G
c.1587A>G (p.Val529=)
c.*620A>G (n.*620A>G)
c.507A>G (p.Val169=)
c.219A>G (p.Val73=)
c.1743A>G (p.Val581=)
c.1545A>G (p.Val515=)
c.699A>G (p.Val233=)
c.654A>G (p.Val218=)
c.486A>G (p.Val162=)
c.360A>G (p.Val120=)
n.1952A>G
12g.32611196A>TCA479167836FGD4c.1251A>T (p.Val417=)
c.1506A>T (p.Val502=)
c.972A>T (p.Val324=)
c.63A>T (p.Val21=)
n.758A>T
c.1662A>T (p.Val554=)
c.*643A>T (n.*643A>T)
c.*662A>T (n.*662A>T)
c.840A>T
c.1587A>T (p.Val529=)
c.*620A>T (n.*620A>T)
c.507A>T (p.Val169=)
c.219A>T (p.Val73=)
c.1743A>T (p.Val581=)
c.1545A>T (p.Val515=)
c.699A>T (p.Val233=)
c.654A>T (p.Val218=)
c.486A>T (p.Val162=)
c.360A>T (p.Val120=)
n.1952A>T
12g.32611197A>CCA384361073FGD4c.1252A>C (p.Asn418His)
c.1507A>C (p.Asn503His)
c.973A>C (p.Asn325His)
c.64A>C (p.Asn22His)
n.759A>C
c.1663A>C (p.Asn555His)
c.*644A>C (n.*644A>C)
c.*663A>C (n.*663A>C)
c.841A>C
c.1588A>C (p.Asn530His)
c.*621A>C (n.*621A>C)
c.508A>C (p.Asn170His)
c.220A>C (p.Asn74His)
c.1744A>C (p.Asn582His)
c.1546A>C (p.Asn516His)
c.700A>C (p.Asn234His)
c.655A>C (p.Asn219His)
c.487A>C (p.Asn163His)
c.361A>C (p.Asn121His)
n.1953A>C
12g.32611197A>GCA384361075FGD4c.1252A>G (p.Asn418Asp)
c.1507A>G (p.Asn503Asp)
c.973A>G (p.Asn325Asp)
c.64A>G (p.Asn22Asp)
n.759A>G
c.1663A>G (p.Asn555Asp)
c.*644A>G (n.*644A>G)
c.*663A>G (n.*663A>G)
c.841A>G
c.1588A>G (p.Asn530Asp)
c.*621A>G (n.*621A>G)
c.508A>G (p.Asn170Asp)
c.220A>G (p.Asn74Asp)
c.1744A>G (p.Asn582Asp)
c.1546A>G (p.Asn516Asp)
c.700A>G (p.Asn234Asp)
c.655A>G (p.Asn219Asp)
c.487A>G (p.Asn163Asp)
c.361A>G (p.Asn121Asp)
n.1953A>G
12g.32611197A>TCA384361074FGD4c.1252A>T (p.Asn418Tyr)
c.1507A>T (p.Asn503Tyr)
c.973A>T (p.Asn325Tyr)
c.64A>T (p.Asn22Tyr)
n.759A>T
c.1663A>T (p.Asn555Tyr)
c.*644A>T (n.*644A>T)
c.*663A>T (n.*663A>T)
c.841A>T
c.1588A>T (p.Asn530Tyr)
c.*621A>T (n.*621A>T)
c.508A>T (p.Asn170Tyr)
c.220A>T (p.Asn74Tyr)
c.1744A>T (p.Asn582Tyr)
c.1546A>T (p.Asn516Tyr)
c.700A>T (p.Asn234Tyr)
c.655A>T (p.Asn219Tyr)
c.487A>T (p.Asn163Tyr)
c.361A>T (p.Asn121Tyr)
n.1953A>T
12g.32611198A>CCA384361076FGD4c.1253A>C (p.Asn418Thr)
c.1508A>C (p.Asn503Thr)
c.974A>C (p.Asn325Thr)
c.65A>C (p.Asn22Thr)
n.760A>C
c.1664A>C (p.Asn555Thr)
c.*645A>C (n.*645A>C)
c.*664A>C (n.*664A>C)
c.842A>C
c.1589A>C (p.Asn530Thr)
c.*622A>C (n.*622A>C)
c.509A>C (p.Asn170Thr)
c.221A>C (p.Asn74Thr)
c.1745A>C (p.Asn582Thr)
c.1547A>C (p.Asn516Thr)
c.701A>C (p.Asn234Thr)
c.656A>C (p.Asn219Thr)
c.488A>C (p.Asn163Thr)
c.362A>C (p.Asn121Thr)
n.1954A>C
12g.32611198A>GCA384361077FGD4c.1253A>G (p.Asn418Ser)
c.1508A>G (p.Asn503Ser)
c.974A>G (p.Asn325Ser)
c.65A>G (p.Asn22Ser)
n.760A>G
c.1664A>G (p.Asn555Ser)
c.*645A>G (n.*645A>G)
c.*664A>G (n.*664A>G)
c.842A>G
c.1589A>G (p.Asn530Ser)
c.*622A>G (n.*622A>G)
c.509A>G (p.Asn170Ser)
c.221A>G (p.Asn74Ser)
c.1745A>G (p.Asn582Ser)
c.1547A>G (p.Asn516Ser)
c.701A>G (p.Asn234Ser)
c.656A>G (p.Asn219Ser)
c.488A>G (p.Asn163Ser)
c.362A>G (p.Asn121Ser)
n.1954A>G
 COSMIC COSMIC COSMIC
12g.32611198A>TCA384361078FGD4c.1253A>T (p.Asn418Ile)
c.1508A>T (p.Asn503Ile)
c.974A>T (p.Asn325Ile)
c.65A>T (p.Asn22Ile)
n.760A>T
c.1664A>T (p.Asn555Ile)
c.*645A>T (n.*645A>T)
c.*664A>T (n.*664A>T)
c.842A>T
c.1589A>T (p.Asn530Ile)
c.*622A>T (n.*622A>T)
c.509A>T (p.Asn170Ile)
c.221A>T (p.Asn74Ile)
c.1745A>T (p.Asn582Ile)
c.1547A>T (p.Asn516Ile)
c.701A>T (p.Asn234Ile)
c.656A>T (p.Asn219Ile)
c.488A>T (p.Asn163Ile)
c.362A>T (p.Asn121Ile)
n.1954A>T
12g.32611199C>ACA384361079FGD4c.1254C>A (p.Asn418Lys)
c.1509C>A (p.Asn503Lys)
c.975C>A (p.Asn325Lys)
c.66C>A (p.Asn22Lys)
n.761C>A
c.1665C>A (p.Asn555Lys)
c.*646C>A (n.*646C>A)
c.*665C>A (n.*665C>A)
c.843C>A
c.1590C>A (p.Asn530Lys)
c.*623C>A (n.*623C>A)
c.510C>A (p.Asn170Lys)
c.222C>A (p.Asn74Lys)
c.1746C>A (p.Asn582Lys)
c.1548C>A (p.Asn516Lys)
c.702C>A (p.Asn234Lys)
c.657C>A (p.Asn219Lys)
c.489C>A (p.Asn163Lys)
c.363C>A (p.Asn121Lys)
n.1955C>A
12g.32611199C>GCA384361080FGD4c.1254C>G (p.Asn418Lys)
c.1509C>G (p.Asn503Lys)
c.975C>G (p.Asn325Lys)
c.66C>G (p.Asn22Lys)
n.761C>G
c.1665C>G (p.Asn555Lys)
c.*646C>G (n.*646C>G)
c.*665C>G (n.*665C>G)
c.843C>G
c.1590C>G (p.Asn530Lys)
c.*623C>G (n.*623C>G)
c.510C>G (p.Asn170Lys)
c.222C>G (p.Asn74Lys)
c.1746C>G (p.Asn582Lys)
c.1548C>G (p.Asn516Lys)
c.702C>G (p.Asn234Lys)
c.657C>G (p.Asn219Lys)
c.489C>G (p.Asn163Lys)
c.363C>G (p.Asn121Lys)
n.1955C>G
12g.32611199C>TCA479167844FGD4c.1254C>T (p.Asn418=)
c.1509C>T (p.Asn503=)
c.975C>T (p.Asn325=)
c.66C>T (p.Asn22=)
n.761C>T
c.1665C>T (p.Asn555=)
c.*646C>T (n.*646C>T)
c.*665C>T (n.*665C>T)
c.843C>T
c.1590C>T (p.Asn530=)
c.*623C>T (n.*623C>T)
c.510C>T (p.Asn170=)
c.222C>T (p.Asn74=)
c.1746C>T (p.Asn582=)
c.1548C>T (p.Asn516=)
c.702C>T (p.Asn234=)
c.657C>T (p.Asn219=)
c.489C>T (p.Asn163=)
c.363C>T (p.Asn121=)
n.1955C>T
12g.32611200C>ACA384361081FGD4c.1255C>A (p.Pro419Thr)
c.1510C>A (p.Pro504Thr)
c.976C>A (p.Pro326Thr)
c.67C>A (p.Pro23Thr)
n.762C>A
c.1666C>A (p.Pro556Thr)
c.*647C>A (n.*647C>A)
c.*666C>A (n.*666C>A)
c.844C>A
c.1591C>A (p.Pro531Thr)
c.*624C>A (n.*624C>A)
c.511C>A (p.Pro171Thr)
c.223C>A (p.Pro75Thr)
c.1747C>A (p.Pro583Thr)
c.1549C>A (p.Pro517Thr)
c.703C>A (p.Pro235Thr)
c.658C>A (p.Pro220Thr)
c.490C>A (p.Pro164Thr)
c.364C>A (p.Pro122Thr)
n.1956C>A
12g.32611200C>GCA384361082FGD4c.1255C>G (p.Pro419Ala)
c.1510C>G (p.Pro504Ala)
c.976C>G (p.Pro326Ala)
c.67C>G (p.Pro23Ala)
n.762C>G
c.1666C>G (p.Pro556Ala)
c.*647C>G (n.*647C>G)
c.*666C>G (n.*666C>G)
c.844C>G
c.1591C>G (p.Pro531Ala)
c.*624C>G (n.*624C>G)
c.511C>G (p.Pro171Ala)
c.223C>G (p.Pro75Ala)
c.1747C>G (p.Pro583Ala)
c.1549C>G (p.Pro517Ala)
c.703C>G (p.Pro235Ala)
c.658C>G (p.Pro220Ala)
c.490C>G (p.Pro164Ala)
c.364C>G (p.Pro122Ala)
n.1956C>G
12g.32611200C>TCA384361083FGD4c.1255C>T (p.Pro419Ser)
c.1510C>T (p.Pro504Ser)
c.976C>T (p.Pro326Ser)
c.67C>T (p.Pro23Ser)
n.762C>T
c.1666C>T (p.Pro556Ser)
c.*647C>T (n.*647C>T)
c.*666C>T (n.*666C>T)
c.844C>T
c.1591C>T (p.Pro531Ser)
c.*624C>T (n.*624C>T)
c.511C>T (p.Pro171Ser)
c.223C>T (p.Pro75Ser)
c.1747C>T (p.Pro583Ser)
c.1549C>T (p.Pro517Ser)
c.703C>T (p.Pro235Ser)
c.658C>T (p.Pro220Ser)
c.490C>T (p.Pro164Ser)
c.364C>T (p.Pro122Ser)
n.1956C>T
12g.32611201C>ACA384361084FGD4c.1256C>A (p.Pro419His)
c.1511C>A (p.Pro504His)
c.977C>A (p.Pro326His)
c.68C>A (p.Pro23His)
n.763C>A
c.1667C>A (p.Pro556His)
c.*648C>A (n.*648C>A)
c.*667C>A (n.*667C>A)
c.845C>A
c.1592C>A (p.Pro531His)
c.*625C>A (n.*625C>A)
c.512C>A (p.Pro171His)
c.224C>A (p.Pro75His)
c.1748C>A (p.Pro583His)
c.1550C>A (p.Pro517His)
c.704C>A (p.Pro235His)
c.659C>A (p.Pro220His)
c.491C>A (p.Pro164His)
c.365C>A (p.Pro122His)
n.1957C>A
 dbSNP gnomAD v4
12g.32611201C=CA2026267794FGD4c.1256C= (p.Pro419=)
c.1511C= (p.Pro504=)
c.977C= (p.Pro326=)
c.68C= (p.Pro23=)
n.763C=
c.1667C= (p.Pro556=)
c.*648C= (n.*648C=)
c.*667C= (n.*667C=)
c.845C=
c.1592C= (p.Pro531=)
c.*625C= (n.*625C=)
c.512C= (p.Pro171=)
c.224C= (p.Pro75=)
c.1748C= (p.Pro583=)
c.1550C= (p.Pro517=)
c.704C= (p.Pro235=)
c.659C= (p.Pro220=)
c.491C= (p.Pro164=)
c.365C= (p.Pro122=)
n.1957C=
12g.32611201C>GCA384361085FGD4c.1256C>G (p.Pro419Arg)
c.1511C>G (p.Pro504Arg)
c.977C>G (p.Pro326Arg)
c.68C>G (p.Pro23Arg)
n.763C>G
c.1667C>G (p.Pro556Arg)
c.*648C>G (n.*648C>G)
c.*667C>G (n.*667C>G)
c.845C>G
c.1592C>G (p.Pro531Arg)
c.*625C>G (n.*625C>G)
c.512C>G (p.Pro171Arg)
c.224C>G (p.Pro75Arg)
c.1748C>G (p.Pro583Arg)
c.1550C>G (p.Pro517Arg)
c.704C>G (p.Pro235Arg)
c.659C>G (p.Pro220Arg)
c.491C>G (p.Pro164Arg)
c.365C>G (p.Pro122Arg)
n.1957C>G
12g.32611201C>TCA6506853FGD4c.1256C>T (p.Pro419Leu)
c.1511C>T (p.Pro504Leu)
c.977C>T (p.Pro326Leu)
c.68C>T (p.Pro23Leu)
n.763C>T
c.1667C>T (p.Pro556Leu)
c.*648C>T (n.*648C>T)
c.*667C>T (n.*667C>T)
c.845C>T
c.1592C>T (p.Pro531Leu)
c.*625C>T (n.*625C>T)
c.512C>T (p.Pro171Leu)
c.224C>T (p.Pro75Leu)
c.1748C>T (p.Pro583Leu)
c.1550C>T (p.Pro517Leu)
c.704C>T (p.Pro235Leu)
c.659C>T (p.Pro220Leu)
c.491C>T (p.Pro164Leu)
c.365C>T (p.Pro122Leu)
n.1957C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611202T>ACA479167848FGD4c.1257T>A (p.Pro419=)
c.1512T>A (p.Pro504=)
c.978T>A (p.Pro326=)
c.69T>A (p.Pro23=)
n.764T>A
c.1668T>A (p.Pro556=)
c.*649T>A (n.*649T>A)
c.*668T>A (n.*668T>A)
c.846T>A
c.1593T>A (p.Pro531=)
c.*626T>A (n.*626T>A)
c.513T>A (p.Pro171=)
c.225T>A (p.Pro75=)
c.1749T>A (p.Pro583=)
c.1551T>A (p.Pro517=)
c.705T>A (p.Pro235=)
c.660T>A (p.Pro220=)
c.492T>A (p.Pro164=)
c.366T>A (p.Pro122=)
n.1958T>A
12g.32611202T>CCA479167849FGD4c.1257T>C (p.Pro419=)
c.1512T>C (p.Pro504=)
c.978T>C (p.Pro326=)
c.69T>C (p.Pro23=)
n.764T>C
c.1668T>C (p.Pro556=)
c.*649T>C (n.*649T>C)
c.*668T>C (n.*668T>C)
c.846T>C
c.1593T>C (p.Pro531=)
c.*626T>C (n.*626T>C)
c.513T>C (p.Pro171=)
c.225T>C (p.Pro75=)
c.1749T>C (p.Pro583=)
c.1551T>C (p.Pro517=)
c.705T>C (p.Pro235=)
c.660T>C (p.Pro220=)
c.492T>C (p.Pro164=)
c.366T>C (p.Pro122=)
n.1958T>C
12g.32611202T>GCA479167851FGD4c.1257T>G (p.Pro419=)
c.1512T>G (p.Pro504=)
c.978T>G (p.Pro326=)
c.69T>G (p.Pro23=)
n.764T>G
c.1668T>G (p.Pro556=)
c.*649T>G (n.*649T>G)
c.*668T>G (n.*668T>G)
c.846T>G
c.1593T>G (p.Pro531=)
c.*626T>G (n.*626T>G)
c.513T>G (p.Pro171=)
c.225T>G (p.Pro75=)
c.1749T>G (p.Pro583=)
c.1551T>G (p.Pro517=)
c.705T>G (p.Pro235=)
c.660T>G (p.Pro220=)
c.492T>G (p.Pro164=)
c.366T>G (p.Pro122=)
n.1958T>G
12g.32611203T>ACA6506854FGD4c.1258T>A (p.Ser420Thr)
c.1513T>A (p.Ser505Thr)
c.979T>A (p.Ser327Thr)
c.70T>A (p.Ser24Thr)
n.765T>A
c.1669T>A (p.Ser557Thr)
c.*650T>A (n.*650T>A)
c.*669T>A (n.*669T>A)
c.847T>A
c.1594T>A (p.Ser532Thr)
c.*627T>A (n.*627T>A)
c.514T>A (p.Ser172Thr)
c.226T>A (p.Ser76Thr)
c.1750T>A (p.Ser584Thr)
c.1552T>A (p.Ser518Thr)
c.706T>A (p.Ser236Thr)
c.661T>A (p.Ser221Thr)
c.493T>A (p.Ser165Thr)
c.367T>A (p.Ser123Thr)
n.1959T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611203T>CCA384361087FGD4c.1258T>C (p.Ser420Pro)
c.1513T>C (p.Ser505Pro)
c.979T>C (p.Ser327Pro)
c.70T>C (p.Ser24Pro)
n.765T>C
c.1669T>C (p.Ser557Pro)
c.*650T>C (n.*650T>C)
c.*669T>C (n.*669T>C)
c.847T>C
c.1594T>C (p.Ser532Pro)
c.*627T>C (n.*627T>C)
c.514T>C (p.Ser172Pro)
c.226T>C (p.Ser76Pro)
c.1750T>C (p.Ser584Pro)
c.1552T>C (p.Ser518Pro)
c.706T>C (p.Ser236Pro)
c.661T>C (p.Ser221Pro)
c.493T>C (p.Ser165Pro)
c.367T>C (p.Ser123Pro)
n.1959T>C
12g.32611203T>GCA384361086FGD4c.1258T>G (p.Ser420Ala)
c.1513T>G (p.Ser505Ala)
c.979T>G (p.Ser327Ala)
c.70T>G (p.Ser24Ala)
n.765T>G
c.1669T>G (p.Ser557Ala)
c.*650T>G (n.*650T>G)
c.*669T>G (n.*669T>G)
c.847T>G
c.1594T>G (p.Ser532Ala)
c.*627T>G (n.*627T>G)
c.514T>G (p.Ser172Ala)
c.226T>G (p.Ser76Ala)
c.1750T>G (p.Ser584Ala)
c.1552T>G (p.Ser518Ala)
c.706T>G (p.Ser236Ala)
c.661T>G (p.Ser221Ala)
c.493T>G (p.Ser165Ala)
c.367T>G (p.Ser123Ala)
n.1959T>G
 gnomAD v4
12g.32611203T=CA2026267795FGD4c.1258T= (p.Ser420=)
c.1513T= (p.Ser505=)
c.979T= (p.Ser327=)
c.70T= (p.Ser24=)
n.765T=
c.1669T= (p.Ser557=)
c.*650T= (n.*650T=)
c.*669T= (n.*669T=)
c.847T=
c.1594T= (p.Ser532=)
c.*627T= (n.*627T=)
c.514T= (p.Ser172=)
c.226T= (p.Ser76=)
c.1750T= (p.Ser584=)
c.1552T= (p.Ser518=)
c.706T= (p.Ser236=)
c.661T= (p.Ser221=)
c.493T= (p.Ser165=)
c.367T= (p.Ser123=)
n.1959T=
12g.32611204C>ACA384361088FGD4c.1259C>A (p.Ser420Ter)
c.1514C>A (p.Ser505Ter)
c.980C>A (p.Ser327Ter)
c.71C>A (p.Ser24Ter)
n.766C>A
c.1670C>A (p.Ser557Ter)
c.*651C>A (n.*651C>A)
c.*670C>A (n.*670C>A)
c.848C>A
c.1595C>A (p.Ser532Ter)
c.*628C>A (n.*628C>A)
c.515C>A (p.Ser172Ter)
c.227C>A (p.Ser76Ter)
c.1751C>A (p.Ser584Ter)
c.1553C>A (p.Ser518Ter)
c.707C>A (p.Ser236Ter)
c.662C>A (p.Ser221Ter)
c.494C>A (p.Ser165Ter)
c.368C>A (p.Ser123Ter)
n.1960C>A
 gnomAD v4
12g.32611204C=CA2026267796FGD4c.1259C= (p.Ser420=)
c.1514C= (p.Ser505=)
c.980C= (p.Ser327=)
c.71C= (p.Ser24=)
n.766C=
c.1670C= (p.Ser557=)
c.*651C= (n.*651C=)
c.*670C= (n.*670C=)
c.848C=
c.1595C= (p.Ser532=)
c.*628C= (n.*628C=)
c.515C= (p.Ser172=)
c.227C= (p.Ser76=)
c.1751C= (p.Ser584=)
c.1553C= (p.Ser518=)
c.707C= (p.Ser236=)
c.662C= (p.Ser221=)
c.494C= (p.Ser165=)
c.368C= (p.Ser123=)
n.1960C=
12g.32611204C>GCA384361089FGD4c.1259C>G (p.Ser420Ter)
c.1514C>G (p.Ser505Ter)
c.980C>G (p.Ser327Ter)
c.71C>G (p.Ser24Ter)
n.766C>G
c.1670C>G (p.Ser557Ter)
c.*651C>G (n.*651C>G)
c.*670C>G (n.*670C>G)
c.848C>G
c.1595C>G (p.Ser532Ter)
c.*628C>G (n.*628C>G)
c.515C>G (p.Ser172Ter)
c.227C>G (p.Ser76Ter)
c.1751C>G (p.Ser584Ter)
c.1553C>G (p.Ser518Ter)
c.707C>G (p.Ser236Ter)
c.662C>G (p.Ser221Ter)
c.494C>G (p.Ser165Ter)
c.368C>G (p.Ser123Ter)
n.1960C>G
12g.32611204C>TCA384361090FGD4c.1259C>T (p.Ser420Leu)
c.1514C>T (p.Ser505Leu)
c.980C>T (p.Ser327Leu)
c.71C>T (p.Ser24Leu)
n.766C>T
c.1670C>T (p.Ser557Leu)
c.*651C>T (n.*651C>T)
c.*670C>T (n.*670C>T)
c.848C>T
c.1595C>T (p.Ser532Leu)
c.*628C>T (n.*628C>T)
c.515C>T (p.Ser172Leu)
c.227C>T (p.Ser76Leu)
c.1751C>T (p.Ser584Leu)
c.1553C>T (p.Ser518Leu)
c.707C>T (p.Ser236Leu)
c.662C>T (p.Ser221Leu)
c.494C>T (p.Ser165Leu)
c.368C>T (p.Ser123Leu)
n.1960C>T
 dbSNP gnomAD v2 gnomAD v4
12g.32611205A>CCA479167855FGD4c.1260A>C (p.Ser420=)
c.1515A>C (p.Ser505=)
c.981A>C (p.Ser327=)
c.72A>C (p.Ser24=)
n.767A>C
c.1671A>C (p.Ser557=)
c.*652A>C (n.*652A>C)
c.*671A>C (n.*671A>C)
c.849A>C
c.1596A>C (p.Ser532=)
c.*629A>C (n.*629A>C)
c.516A>C (p.Ser172=)
c.228A>C (p.Ser76=)
c.1752A>C (p.Ser584=)
c.1554A>C (p.Ser518=)
c.708A>C (p.Ser236=)
c.663A>C (p.Ser221=)
c.495A>C (p.Ser165=)
c.369A>C (p.Ser123=)
n.1961A>C
12g.32611205A>GCA479167856FGD4c.1260A>G (p.Ser420=)
c.1515A>G (p.Ser505=)
c.981A>G (p.Ser327=)
c.72A>G (p.Ser24=)
n.767A>G
c.1671A>G (p.Ser557=)
c.*652A>G (n.*652A>G)
c.*671A>G (n.*671A>G)
c.849A>G
c.1596A>G (p.Ser532=)
c.*629A>G (n.*629A>G)
c.516A>G (p.Ser172=)
c.228A>G (p.Ser76=)
c.1752A>G (p.Ser584=)
c.1554A>G (p.Ser518=)
c.708A>G (p.Ser236=)
c.663A>G (p.Ser221=)
c.495A>G (p.Ser165=)
c.369A>G (p.Ser123=)
n.1961A>G
12g.32611205A>TCA479167857FGD4c.1260A>T (p.Ser420=)
c.1515A>T (p.Ser505=)
c.981A>T (p.Ser327=)
c.72A>T (p.Ser24=)
n.767A>T
c.1671A>T (p.Ser557=)
c.*652A>T (n.*652A>T)
c.*671A>T (n.*671A>T)
c.849A>T
c.1596A>T (p.Ser532=)
c.*629A>T (n.*629A>T)
c.516A>T (p.Ser172=)
c.228A>T (p.Ser76=)
c.1752A>T (p.Ser584=)
c.1554A>T (p.Ser518=)
c.708A>T (p.Ser236=)
c.663A>T (p.Ser221=)
c.495A>T (p.Ser165=)
c.369A>T (p.Ser123=)
n.1961A>T
12g.32611207dupCA6506855FGD4c.1262dup (p.Asn421LysfsTer2)
c.1517dup (p.Asn506LysfsTer2)
c.983dup (p.Asn328LysfsTer2)
c.74dup (p.Asn25LysfsTer2)
n.769dup
c.1673dup (p.Asn558LysfsTer2)
c.*654dup (n.*654dup)
c.*673dup (n.*673dup)
c.851dup
c.1598dup (p.Asn533LysfsTer2)
c.*631dup (n.*631dup)
c.518dup (p.Asn173LysfsTer2)
c.230dup (p.Asn77LysfsTer2)
c.1754dup (p.Asn585LysfsTer2)
c.1556dup (p.Asn519LysfsTer2)
c.710dup (p.Asn237LysfsTer2)
c.665dup (p.Asn222LysfsTer2)
c.497dup (p.Asn166LysfsTer2)
c.371dup (p.Asn124LysfsTer2)
n.1963dup
 dbSNP ExAC gnomAD v2
12g.32611206A=CA2026267797FGD4c.1261A= (p.Asn421=)
c.1516A= (p.Asn506=)
c.982A= (p.Asn328=)
c.73A= (p.Asn25=)
n.768A=
c.1672A= (p.Asn558=)
c.*653A= (n.*653A=)
c.*672A= (n.*672A=)
c.850A=
c.1597A= (p.Asn533=)
c.*630A= (n.*630A=)
c.517A= (p.Asn173=)
c.229A= (p.Asn77=)
c.1753A= (p.Asn585=)
c.1555A= (p.Asn519=)
c.709A= (p.Asn237=)
c.664A= (p.Asn222=)
c.496A= (p.Asn166=)
c.370A= (p.Asn124=)
n.1962A=
12g.32611206A>CCA384361091FGD4c.1261A>C (p.Asn421His)
c.1516A>C (p.Asn506His)
c.982A>C (p.Asn328His)
c.73A>C (p.Asn25His)
n.768A>C
c.1672A>C (p.Asn558His)
c.*653A>C (n.*653A>C)
c.*672A>C (n.*672A>C)
c.850A>C
c.1597A>C (p.Asn533His)
c.*630A>C (n.*630A>C)
c.517A>C (p.Asn173His)
c.229A>C (p.Asn77His)
c.1753A>C (p.Asn585His)
c.1555A>C (p.Asn519His)
c.709A>C (p.Asn237His)
c.664A>C (p.Asn222His)
c.496A>C (p.Asn166His)
c.370A>C (p.Asn124His)
n.1962A>C
12g.32611206A>GCA384361092FGD4c.1261A>G (p.Asn421Asp)
c.1516A>G (p.Asn506Asp)
c.982A>G (p.Asn328Asp)
c.73A>G (p.Asn25Asp)
n.768A>G
c.1672A>G (p.Asn558Asp)
c.*653A>G (n.*653A>G)
c.*672A>G (n.*672A>G)
c.850A>G
c.1597A>G (p.Asn533Asp)
c.*630A>G (n.*630A>G)
c.517A>G (p.Asn173Asp)
c.229A>G (p.Asn77Asp)
c.1753A>G (p.Asn585Asp)
c.1555A>G (p.Asn519Asp)
c.709A>G (p.Asn237Asp)
c.664A>G (p.Asn222Asp)
c.496A>G (p.Asn166Asp)
c.370A>G (p.Asn124Asp)
n.1962A>G
 dbSNP
12g.32611206A>TCA384361093FGD4c.1261A>T (p.Asn421Tyr)
c.1516A>T (p.Asn506Tyr)
c.982A>T (p.Asn328Tyr)
c.73A>T (p.Asn25Tyr)
n.768A>T
c.1672A>T (p.Asn558Tyr)
c.*653A>T (n.*653A>T)
c.*672A>T (n.*672A>T)
c.850A>T
c.1597A>T (p.Asn533Tyr)
c.*630A>T (n.*630A>T)
c.517A>T (p.Asn173Tyr)
c.229A>T (p.Asn77Tyr)
c.1753A>T (p.Asn585Tyr)
c.1555A>T (p.Asn519Tyr)
c.709A>T (p.Asn237Tyr)
c.664A>T (p.Asn222Tyr)
c.496A>T (p.Asn166Tyr)
c.370A>T (p.Asn124Tyr)
n.1962A>T
12g.32611207A>CCA384361094FGD4c.1262A>C (p.Asn421Thr)
c.1517A>C (p.Asn506Thr)
c.983A>C (p.Asn328Thr)
c.74A>C (p.Asn25Thr)
n.769A>C
c.1673A>C (p.Asn558Thr)
c.*654A>C (n.*654A>C)
c.*673A>C (n.*673A>C)
c.851A>C
c.1598A>C (p.Asn533Thr)
c.*631A>C (n.*631A>C)
c.518A>C (p.Asn173Thr)
c.230A>C (p.Asn77Thr)
c.1754A>C (p.Asn585Thr)
c.1556A>C (p.Asn519Thr)
c.710A>C (p.Asn237Thr)
c.665A>C (p.Asn222Thr)
c.497A>C (p.Asn166Thr)
c.371A>C (p.Asn124Thr)
n.1963A>C
12g.32611207A>GCA384361095FGD4c.1262A>G (p.Asn421Ser)
c.1517A>G (p.Asn506Ser)
c.983A>G (p.Asn328Ser)
c.74A>G (p.Asn25Ser)
n.769A>G
c.1673A>G (p.Asn558Ser)
c.*654A>G (n.*654A>G)
c.*673A>G (n.*673A>G)
c.851A>G
c.1598A>G (p.Asn533Ser)
c.*631A>G (n.*631A>G)
c.518A>G (p.Asn173Ser)
c.230A>G (p.Asn77Ser)
c.1754A>G (p.Asn585Ser)
c.1556A>G (p.Asn519Ser)
c.710A>G (p.Asn237Ser)
c.665A>G (p.Asn222Ser)
c.497A>G (p.Asn166Ser)
c.371A>G (p.Asn124Ser)
n.1963A>G
 COSMIC COSMIC COSMIC
12g.32611207A>TCA384361096FGD4c.1262A>T (p.Asn421Ile)
c.1517A>T (p.Asn506Ile)
c.983A>T (p.Asn328Ile)
c.74A>T (p.Asn25Ile)
n.769A>T
c.1673A>T (p.Asn558Ile)
c.*654A>T (n.*654A>T)
c.*673A>T (n.*673A>T)
c.851A>T
c.1598A>T (p.Asn533Ile)
c.*631A>T (n.*631A>T)
c.518A>T (p.Asn173Ile)
c.230A>T (p.Asn77Ile)
c.1754A>T (p.Asn585Ile)
c.1556A>T (p.Asn519Ile)
c.710A>T (p.Asn237Ile)
c.665A>T (p.Asn222Ile)
c.497A>T (p.Asn166Ile)
c.371A>T (p.Asn124Ile)
n.1963A>T
12g.32611208T>ACA384361097FGD4c.1263T>A (p.Asn421Lys)
c.1518T>A (p.Asn506Lys)
c.984T>A (p.Asn328Lys)
c.75T>A (p.Asn25Lys)
n.770T>A
c.1674T>A (p.Asn558Lys)
c.*655T>A (n.*655T>A)
c.*674T>A (n.*674T>A)
c.852T>A
c.1599T>A (p.Asn533Lys)
c.*632T>A (n.*632T>A)
c.519T>A (p.Asn173Lys)
c.231T>A (p.Asn77Lys)
c.1755T>A (p.Asn585Lys)
c.1557T>A (p.Asn519Lys)
c.711T>A (p.Asn237Lys)
c.666T>A (p.Asn222Lys)
c.498T>A (p.Asn166Lys)
c.372T>A (p.Asn124Lys)
n.1964T>A
12g.32611208T>CCA479167858FGD4c.1263T>C (p.Asn421=)
c.1518T>C (p.Asn506=)
c.984T>C (p.Asn328=)
c.75T>C (p.Asn25=)
n.770T>C
c.1674T>C (p.Asn558=)
c.*655T>C (n.*655T>C)
c.*674T>C (n.*674T>C)
c.852T>C
c.1599T>C (p.Asn533=)
c.*632T>C (n.*632T>C)
c.519T>C (p.Asn173=)
c.231T>C (p.Asn77=)
c.1755T>C (p.Asn585=)
c.1557T>C (p.Asn519=)
c.711T>C (p.Asn237=)
c.666T>C (p.Asn222=)
c.498T>C (p.Asn166=)
c.372T>C (p.Asn124=)
n.1964T>C
12g.32611208T>GCA384361098FGD4c.1263T>G (p.Asn421Lys)
c.1518T>G (p.Asn506Lys)
c.984T>G (p.Asn328Lys)
c.75T>G (p.Asn25Lys)
n.770T>G
c.1674T>G (p.Asn558Lys)
c.*655T>G (n.*655T>G)
c.*674T>G (n.*674T>G)
c.852T>G
c.1599T>G (p.Asn533Lys)
c.*632T>G (n.*632T>G)
c.519T>G (p.Asn173Lys)
c.231T>G (p.Asn77Lys)
c.1755T>G (p.Asn585Lys)
c.1557T>G (p.Asn519Lys)
c.711T>G (p.Asn237Lys)
c.666T>G (p.Asn222Lys)
c.498T>G (p.Asn166Lys)
c.372T>G (p.Asn124Lys)
n.1964T>G
 gnomAD v4
12g.32611209G>ACA384361101FGD4c.1264G>A (p.Glu422Lys)
c.1519G>A (p.Glu507Lys)
c.985G>A (p.Glu329Lys)
c.76G>A (p.Glu26Lys)
n.771G>A
c.1675G>A (p.Glu559Lys)
c.*656G>A (n.*656G>A)
c.*675G>A (n.*675G>A)
c.853G>A
c.1600G>A (p.Glu534Lys)
c.*633G>A (n.*633G>A)
c.520G>A (p.Glu174Lys)
c.232G>A (p.Glu78Lys)
c.1756G>A (p.Glu586Lys)
c.1558G>A (p.Glu520Lys)
c.712G>A (p.Glu238Lys)
c.667G>A (p.Glu223Lys)
c.499G>A (p.Glu167Lys)
c.373G>A (p.Glu125Lys)
n.1965G>A
12g.32611209G>CCA384361100FGD4c.1264G>C (p.Glu422Gln)
c.1519G>C (p.Glu507Gln)
c.985G>C (p.Glu329Gln)
c.76G>C (p.Glu26Gln)
n.771G>C
c.1675G>C (p.Glu559Gln)
c.*656G>C (n.*656G>C)
c.*675G>C (n.*675G>C)
c.853G>C
c.1600G>C (p.Glu534Gln)
c.*633G>C (n.*633G>C)
c.520G>C (p.Glu174Gln)
c.232G>C (p.Glu78Gln)
c.1756G>C (p.Glu586Gln)
c.1558G>C (p.Glu520Gln)
c.712G>C (p.Glu238Gln)
c.667G>C (p.Glu223Gln)
c.499G>C (p.Glu167Gln)
c.373G>C (p.Glu125Gln)
n.1965G>C
12g.32611209G>TCA384361099FGD4c.1264G>T (p.Glu422Ter)
c.1519G>T (p.Glu507Ter)
c.985G>T (p.Glu329Ter)
c.76G>T (p.Glu26Ter)
n.771G>T
c.1675G>T (p.Glu559Ter)
c.*656G>T (n.*656G>T)
c.*675G>T (n.*675G>T)
c.853G>T
c.1600G>T (p.Glu534Ter)
c.*633G>T (n.*633G>T)
c.520G>T (p.Glu174Ter)
c.232G>T (p.Glu78Ter)
c.1756G>T (p.Glu586Ter)
c.1558G>T (p.Glu520Ter)
c.712G>T (p.Glu238Ter)
c.667G>T (p.Glu223Ter)
c.499G>T (p.Glu167Ter)
c.373G>T (p.Glu125Ter)
n.1965G>T
12g.32611210A>CCA384361102FGD4c.1265A>C (p.Glu422Ala)
c.1520A>C (p.Glu507Ala)
c.986A>C (p.Glu329Ala)
c.77A>C (p.Glu26Ala)
n.772A>C
c.1676A>C (p.Glu559Ala)
c.*657A>C (n.*657A>C)
c.*676A>C (n.*676A>C)
c.854A>C
c.1601A>C (p.Glu534Ala)
c.*634A>C (n.*634A>C)
c.521A>C (p.Glu174Ala)
c.233A>C (p.Glu78Ala)
c.1757A>C (p.Glu586Ala)
c.1559A>C (p.Glu520Ala)
c.713A>C (p.Glu238Ala)
c.668A>C (p.Glu223Ala)
c.500A>C (p.Glu167Ala)
c.374A>C (p.Glu125Ala)
n.1966A>C
12g.32611210A>GCA384361103FGD4c.1265A>G (p.Glu422Gly)
c.1520A>G (p.Glu507Gly)
c.986A>G (p.Glu329Gly)
c.77A>G (p.Glu26Gly)
n.772A>G
c.1676A>G (p.Glu559Gly)
c.*657A>G (n.*657A>G)
c.*676A>G (n.*676A>G)
c.854A>G
c.1601A>G (p.Glu534Gly)
c.*634A>G (n.*634A>G)
c.521A>G (p.Glu174Gly)
c.233A>G (p.Glu78Gly)
c.1757A>G (p.Glu586Gly)
c.1559A>G (p.Glu520Gly)
c.713A>G (p.Glu238Gly)
c.668A>G (p.Glu223Gly)
c.500A>G (p.Glu167Gly)
c.374A>G (p.Glu125Gly)
n.1966A>G
12g.32611210A>TCA384361104FGD4c.1265A>T (p.Glu422Val)
c.1520A>T (p.Glu507Val)
c.986A>T (p.Glu329Val)
c.77A>T (p.Glu26Val)
n.772A>T
c.1676A>T (p.Glu559Val)
c.*657A>T (n.*657A>T)
c.*676A>T (n.*676A>T)
c.854A>T
c.1601A>T (p.Glu534Val)
c.*634A>T (n.*634A>T)
c.521A>T (p.Glu174Val)
c.233A>T (p.Glu78Val)
c.1757A>T (p.Glu586Val)
c.1559A>T (p.Glu520Val)
c.713A>T (p.Glu238Val)
c.668A>T (p.Glu223Val)
c.500A>T (p.Glu167Val)
c.374A>T (p.Glu125Val)
n.1966A>T
12g.32611211A=CA2026267798FGD4c.1266A= (p.Glu422=)
c.1521A= (p.Glu507=)
c.987A= (p.Glu329=)
c.78A= (p.Glu26=)
n.773A=
c.1677A= (p.Glu559=)
c.*658A= (n.*658A=)
c.*677A= (n.*677A=)
c.855A=
c.1602A= (p.Glu534=)
c.*635A= (n.*635A=)
c.522A= (p.Glu174=)
c.234A= (p.Glu78=)
c.1758A= (p.Glu586=)
c.1560A= (p.Glu520=)
c.714A= (p.Glu238=)
c.669A= (p.Glu223=)
c.501A= (p.Glu167=)
c.375A= (p.Glu125=)
n.1967A=
12g.32611211A>CCA384361105FGD4c.1266A>C (p.Glu422Asp)
c.1521A>C (p.Glu507Asp)
c.987A>C (p.Glu329Asp)
c.78A>C (p.Glu26Asp)
n.773A>C
c.1677A>C (p.Glu559Asp)
c.*658A>C (n.*658A>C)
c.*677A>C (n.*677A>C)
c.855A>C
c.1602A>C (p.Glu534Asp)
c.*635A>C (n.*635A>C)
c.522A>C (p.Glu174Asp)
c.234A>C (p.Glu78Asp)
c.1758A>C (p.Glu586Asp)
c.1560A>C (p.Glu520Asp)
c.714A>C (p.Glu238Asp)
c.669A>C (p.Glu223Asp)
c.501A>C (p.Glu167Asp)
c.375A>C (p.Glu125Asp)
n.1967A>C
12g.32611211A>GCA479167860FGD4c.1266A>G (p.Glu422=)
c.1521A>G (p.Glu507=)
c.987A>G (p.Glu329=)
c.78A>G (p.Glu26=)
n.773A>G
c.1677A>G (p.Glu559=)
c.*658A>G (n.*658A>G)
c.*677A>G (n.*677A>G)
c.855A>G
c.1602A>G (p.Glu534=)
c.*635A>G (n.*635A>G)
c.522A>G (p.Glu174=)
c.234A>G (p.Glu78=)
c.1758A>G (p.Glu586=)
c.1560A>G (p.Glu520=)
c.714A>G (p.Glu238=)
c.669A>G (p.Glu223=)
c.501A>G (p.Glu167=)
c.375A>G (p.Glu125=)
n.1967A>G
 dbSNP gnomAD v4
12g.32611211A>TCA384361106FGD4c.1266A>T (p.Glu422Asp)
c.1521A>T (p.Glu507Asp)
c.987A>T (p.Glu329Asp)
c.78A>T (p.Glu26Asp)
n.773A>T
c.1677A>T (p.Glu559Asp)
c.*658A>T (n.*658A>T)
c.*677A>T (n.*677A>T)
c.855A>T
c.1602A>T (p.Glu534Asp)
c.*635A>T (n.*635A>T)
c.522A>T (p.Glu174Asp)
c.234A>T (p.Glu78Asp)
c.1758A>T (p.Glu586Asp)
c.1560A>T (p.Glu520Asp)
c.714A>T (p.Glu238Asp)
c.669A>T (p.Glu223Asp)
c.501A>T (p.Glu167Asp)
c.375A>T (p.Glu125Asp)
n.1967A>T
12g.32611212C>ACA384361107FGD4c.1267C>A (p.Leu423Ile)
c.1522C>A (p.Leu508Ile)
c.988C>A (p.Leu330Ile)
c.79C>A (p.Leu27Ile)
n.774C>A
c.1678C>A (p.Leu560Ile)
c.*659C>A (n.*659C>A)
c.*678C>A (n.*678C>A)
c.856C>A
c.1603C>A (p.Leu535Ile)
c.*636C>A (n.*636C>A)
c.523C>A (p.Leu175Ile)
c.235C>A (p.Leu79Ile)
c.1759C>A (p.Leu587Ile)
c.1561C>A (p.Leu521Ile)
c.715C>A (p.Leu239Ile)
c.670C>A (p.Leu224Ile)
c.502C>A (p.Leu168Ile)
c.376C>A (p.Leu126Ile)
n.1968C>A
12g.32611212C=CA2026267799FGD4c.1267C= (p.Leu423=)
c.1522C= (p.Leu508=)
c.988C= (p.Leu330=)
c.79C= (p.Leu27=)
n.774C=
c.1678C= (p.Leu560=)
c.*659C= (n.*659C=)
c.*678C= (n.*678C=)
c.856C=
c.1603C= (p.Leu535=)
c.*636C= (n.*636C=)
c.523C= (p.Leu175=)
c.235C= (p.Leu79=)
c.1759C= (p.Leu587=)
c.1561C= (p.Leu521=)
c.715C= (p.Leu239=)
c.670C= (p.Leu224=)
c.502C= (p.Leu168=)
c.376C= (p.Leu126=)
n.1968C=
12g.32611212C>GCA384361108FGD4c.1267C>G (p.Leu423Val)
c.1522C>G (p.Leu508Val)
c.988C>G (p.Leu330Val)
c.79C>G (p.Leu27Val)
n.774C>G
c.1678C>G (p.Leu560Val)
c.*659C>G (n.*659C>G)
c.*678C>G (n.*678C>G)
c.856C>G
c.1603C>G (p.Leu535Val)
c.*636C>G (n.*636C>G)
c.523C>G (p.Leu175Val)
c.235C>G (p.Leu79Val)
c.1759C>G (p.Leu587Val)
c.1561C>G (p.Leu521Val)
c.715C>G (p.Leu239Val)
c.670C>G (p.Leu224Val)
c.502C>G (p.Leu168Val)
c.376C>G (p.Leu126Val)
n.1968C>G
 dbSNP
12g.32611212C>TCA479167861FGD4c.1267C>T (p.Leu423=)
c.1522C>T (p.Leu508=)
c.988C>T (p.Leu330=)
c.79C>T (p.Leu27=)
n.774C>T
c.1678C>T (p.Leu560=)
c.*659C>T (n.*659C>T)
c.*678C>T (n.*678C>T)
c.856C>T
c.1603C>T (p.Leu535=)
c.*636C>T (n.*636C>T)
c.523C>T (p.Leu175=)
c.235C>T (p.Leu79=)
c.1759C>T (p.Leu587=)
c.1561C>T (p.Leu521=)
c.715C>T (p.Leu239=)
c.670C>T (p.Leu224=)
c.502C>T (p.Leu168=)
c.376C>T (p.Leu126=)
n.1968C>T
12g.32611213T>ACA384361109FGD4c.1268T>A (p.Leu423Gln)
c.1523T>A (p.Leu508Gln)
c.989T>A (p.Leu330Gln)
c.80T>A (p.Leu27Gln)
n.775T>A
c.1679T>A (p.Leu560Gln)
c.*660T>A (n.*660T>A)
c.*679T>A (n.*679T>A)
c.857T>A
c.1604T>A (p.Leu535Gln)
c.*637T>A (n.*637T>A)
c.524T>A (p.Leu175Gln)
c.236T>A (p.Leu79Gln)
c.1760T>A (p.Leu587Gln)
c.1562T>A (p.Leu521Gln)
c.716T>A (p.Leu239Gln)
c.671T>A (p.Leu224Gln)
c.503T>A (p.Leu168Gln)
c.377T>A (p.Leu126Gln)
n.1969T>A
12g.32611213T>CCA384361110FGD4c.1268T>C (p.Leu423Pro)
c.1523T>C (p.Leu508Pro)
c.989T>C (p.Leu330Pro)
c.80T>C (p.Leu27Pro)
n.775T>C
c.1679T>C (p.Leu560Pro)
c.*660T>C (n.*660T>C)
c.*679T>C (n.*679T>C)
c.857T>C
c.1604T>C (p.Leu535Pro)
c.*637T>C (n.*637T>C)
c.524T>C (p.Leu175Pro)
c.236T>C (p.Leu79Pro)
c.1760T>C (p.Leu587Pro)
c.1562T>C (p.Leu521Pro)
c.716T>C (p.Leu239Pro)
c.671T>C (p.Leu224Pro)
c.503T>C (p.Leu168Pro)
c.377T>C (p.Leu126Pro)
n.1969T>C
12g.32611213T>GCA384361111FGD4c.1268T>G (p.Leu423Arg)
c.1523T>G (p.Leu508Arg)
c.989T>G (p.Leu330Arg)
c.80T>G (p.Leu27Arg)
n.775T>G
c.1679T>G (p.Leu560Arg)
c.*660T>G (n.*660T>G)
c.*679T>G (n.*679T>G)
c.857T>G
c.1604T>G (p.Leu535Arg)
c.*637T>G (n.*637T>G)
c.524T>G (p.Leu175Arg)
c.236T>G (p.Leu79Arg)
c.1760T>G (p.Leu587Arg)
c.1562T>G (p.Leu521Arg)
c.716T>G (p.Leu239Arg)
c.671T>G (p.Leu224Arg)
c.503T>G (p.Leu168Arg)
c.377T>G (p.Leu126Arg)
n.1969T>G
12g.32611214A>CCA479167862FGD4c.1269A>C (p.Leu423=)
c.1524A>C (p.Leu508=)
c.990A>C (p.Leu330=)
c.81A>C (p.Leu27=)
n.776A>C
c.1680A>C (p.Leu560=)
c.*661A>C (n.*661A>C)
c.*680A>C (n.*680A>C)
c.858A>C
c.1605A>C (p.Leu535=)
c.*638A>C (n.*638A>C)
c.525A>C (p.Leu175=)
c.237A>C (p.Leu79=)
c.1761A>C (p.Leu587=)
c.1563A>C (p.Leu521=)
c.717A>C (p.Leu239=)
c.672A>C (p.Leu224=)
c.504A>C (p.Leu168=)
c.378A>C (p.Leu126=)
n.1970A>C
12g.32611214A>GCA479167863FGD4c.1269A>G (p.Leu423=)
c.1524A>G (p.Leu508=)
c.990A>G (p.Leu330=)
c.81A>G (p.Leu27=)
n.776A>G
c.1680A>G (p.Leu560=)
c.*661A>G (n.*661A>G)
c.*680A>G (n.*680A>G)
c.858A>G
c.1605A>G (p.Leu535=)
c.*638A>G (n.*638A>G)
c.525A>G (p.Leu175=)
c.237A>G (p.Leu79=)
c.1761A>G (p.Leu587=)
c.1563A>G (p.Leu521=)
c.717A>G (p.Leu239=)
c.672A>G (p.Leu224=)
c.504A>G (p.Leu168=)
c.378A>G (p.Leu126=)
n.1970A>G
12g.32611214A>TCA479167864FGD4c.1269A>T (p.Leu423=)
c.1524A>T (p.Leu508=)
c.990A>T (p.Leu330=)
c.81A>T (p.Leu27=)
n.776A>T
c.1680A>T (p.Leu560=)
c.*661A>T (n.*661A>T)
c.*680A>T (n.*680A>T)
c.858A>T
c.1605A>T (p.Leu535=)
c.*638A>T (n.*638A>T)
c.525A>T (p.Leu175=)
c.237A>T (p.Leu79=)
c.1761A>T (p.Leu587=)
c.1563A>T (p.Leu521=)
c.717A>T (p.Leu239=)
c.672A>T (p.Leu224=)
c.504A>T (p.Leu168=)
c.378A>T (p.Leu126=)
n.1970A>T
12g.32611215A=CA2026267800FGD4c.1270A= (p.Ile424=)
c.1525A= (p.Ile509=)
c.991A= (p.Ile331=)
c.82A= (p.Ile28=)
n.777A=
c.1681A= (p.Ile561=)
c.*662A= (n.*662A=)
c.*681A= (n.*681A=)
c.859A=
c.1606A= (p.Ile536=)
c.*639A= (n.*639A=)
c.526A= (p.Ile176=)
c.238A= (p.Ile80=)
c.1762A= (p.Ile588=)
c.1564A= (p.Ile522=)
c.718A= (p.Ile240=)
c.673A= (p.Ile225=)
c.505A= (p.Ile169=)
c.379A= (p.Ile127=)
n.1971A=
12g.32611215A>CCA384361112FGD4c.1270A>C (p.Ile424Leu)
c.1525A>C (p.Ile509Leu)
c.991A>C (p.Ile331Leu)
c.82A>C (p.Ile28Leu)
n.777A>C
c.1681A>C (p.Ile561Leu)
c.*662A>C (n.*662A>C)
c.*681A>C (n.*681A>C)
c.859A>C
c.1606A>C (p.Ile536Leu)
c.*639A>C (n.*639A>C)
c.526A>C (p.Ile176Leu)
c.238A>C (p.Ile80Leu)
c.1762A>C (p.Ile588Leu)
c.1564A>C (p.Ile522Leu)
c.718A>C (p.Ile240Leu)
c.673A>C (p.Ile225Leu)
c.505A>C (p.Ile169Leu)
c.379A>C (p.Ile127Leu)
n.1971A>C
12g.32611215A>GCA384361113FGD4c.1270A>G (p.Ile424Val)
c.1525A>G (p.Ile509Val)
c.991A>G (p.Ile331Val)
c.82A>G (p.Ile28Val)
n.777A>G
c.1681A>G (p.Ile561Val)
c.*662A>G (n.*662A>G)
c.*681A>G (n.*681A>G)
c.859A>G
c.1606A>G (p.Ile536Val)
c.*639A>G (n.*639A>G)
c.526A>G (p.Ile176Val)
c.238A>G (p.Ile80Val)
c.1762A>G (p.Ile588Val)
c.1564A>G (p.Ile522Val)
c.718A>G (p.Ile240Val)
c.673A>G (p.Ile225Val)
c.505A>G (p.Ile169Val)
c.379A>G (p.Ile127Val)
n.1971A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32611215A>TCA384361114FGD4c.1270A>T (p.Ile424Leu)
c.1525A>T (p.Ile509Leu)
c.991A>T (p.Ile331Leu)
c.82A>T (p.Ile28Leu)
n.777A>T
c.1681A>T (p.Ile561Leu)
c.*662A>T (n.*662A>T)
c.*681A>T (n.*681A>T)
c.859A>T
c.1606A>T (p.Ile536Leu)
c.*639A>T (n.*639A>T)
c.526A>T (p.Ile176Leu)
c.238A>T (p.Ile80Leu)
c.1762A>T (p.Ile588Leu)
c.1564A>T (p.Ile522Leu)
c.718A>T (p.Ile240Leu)
c.673A>T (p.Ile225Leu)
c.505A>T (p.Ile169Leu)
c.379A>T (p.Ile127Leu)
n.1971A>T
12g.32611216T>ACA384361117FGD4c.1271T>A (p.Ile424Lys)
c.1526T>A (p.Ile509Lys)
c.992T>A (p.Ile331Lys)
c.83T>A (p.Ile28Lys)
n.778T>A
c.1682T>A (p.Ile561Lys)
c.*663T>A (n.*663T>A)
c.*682T>A (n.*682T>A)
c.860T>A
c.1607T>A (p.Ile536Lys)
c.*640T>A (n.*640T>A)
c.527T>A (p.Ile176Lys)
c.239T>A (p.Ile80Lys)
c.1763T>A (p.Ile588Lys)
c.1565T>A (p.Ile522Lys)
c.719T>A (p.Ile240Lys)
c.674T>A (p.Ile225Lys)
c.506T>A (p.Ile169Lys)
c.380T>A (p.Ile127Lys)
n.1972T>A
12g.32611216T>CCA384361115FGD4c.1271T>C (p.Ile424Thr)
c.1526T>C (p.Ile509Thr)
c.992T>C (p.Ile331Thr)
c.83T>C (p.Ile28Thr)
n.778T>C
c.1682T>C (p.Ile561Thr)
c.*663T>C (n.*663T>C)
c.*682T>C (n.*682T>C)
c.860T>C
c.1607T>C (p.Ile536Thr)
c.*640T>C (n.*640T>C)
c.527T>C (p.Ile176Thr)
c.239T>C (p.Ile80Thr)
c.1763T>C (p.Ile588Thr)
c.1565T>C (p.Ile522Thr)
c.719T>C (p.Ile240Thr)
c.674T>C (p.Ile225Thr)
c.506T>C (p.Ile169Thr)
c.380T>C (p.Ile127Thr)
n.1972T>C
12g.32611216T>GCA384361116FGD4c.1271T>G (p.Ile424Arg)
c.1526T>G (p.Ile509Arg)
c.992T>G (p.Ile331Arg)
c.83T>G (p.Ile28Arg)
n.778T>G
c.1682T>G (p.Ile561Arg)
c.*663T>G (n.*663T>G)
c.*682T>G (n.*682T>G)
c.860T>G
c.1607T>G (p.Ile536Arg)
c.*640T>G (n.*640T>G)
c.527T>G (p.Ile176Arg)
c.239T>G (p.Ile80Arg)
c.1763T>G (p.Ile588Arg)
c.1565T>G (p.Ile522Arg)
c.719T>G (p.Ile240Arg)
c.674T>G (p.Ile225Arg)
c.506T>G (p.Ile169Arg)
c.380T>G (p.Ile127Arg)
n.1972T>G
12g.32611217A>CCA479167865FGD4c.1272A>C (p.Ile424=)
c.1527A>C (p.Ile509=)
c.993A>C (p.Ile331=)
c.84A>C (p.Ile28=)
n.779A>C
c.1683A>C (p.Ile561=)
c.*664A>C (n.*664A>C)
c.*683A>C (n.*683A>C)
c.861A>C
c.1608A>C (p.Ile536=)
c.*641A>C (n.*641A>C)
c.528A>C (p.Ile176=)
c.240A>C (p.Ile80=)
c.1764A>C (p.Ile588=)
c.1566A>C (p.Ile522=)
c.720A>C (p.Ile240=)
c.675A>C (p.Ile225=)
c.507A>C (p.Ile169=)
c.381A>C (p.Ile127=)
n.1973A>C
12g.32611217A>GCA384361118FGD4c.1272A>G (p.Ile424Met)
c.1527A>G (p.Ile509Met)
c.993A>G (p.Ile331Met)
c.84A>G (p.Ile28Met)
n.779A>G
c.1683A>G (p.Ile561Met)
c.*664A>G (n.*664A>G)
c.*683A>G (n.*683A>G)
c.861A>G
c.1608A>G (p.Ile536Met)
c.*641A>G (n.*641A>G)
c.528A>G (p.Ile176Met)
c.240A>G (p.Ile80Met)
c.1764A>G (p.Ile588Met)
c.1566A>G (p.Ile522Met)
c.720A>G (p.Ile240Met)
c.675A>G (p.Ile225Met)
c.507A>G (p.Ile169Met)
c.381A>G (p.Ile127Met)
n.1973A>G
12g.32611217A>TCA479167866FGD4c.1272A>T (p.Ile424=)
c.1527A>T (p.Ile509=)
c.993A>T (p.Ile331=)
c.84A>T (p.Ile28=)
n.779A>T
c.1683A>T (p.Ile561=)
c.*664A>T (n.*664A>T)
c.*683A>T (n.*683A>T)
c.861A>T
c.1608A>T (p.Ile536=)
c.*641A>T (n.*641A>T)
c.528A>T (p.Ile176=)
c.240A>T (p.Ile80=)
c.1764A>T (p.Ile588=)
c.1566A>T (p.Ile522=)
c.720A>T (p.Ile240=)
c.675A>T (p.Ile225=)
c.507A>T (p.Ile169=)
c.381A>T (p.Ile127=)
n.1973A>T
12g.32611218A=CA2026267801FGD4c.1273A= (p.Lys425=)
c.1528A= (p.Lys510=)
c.994A= (p.Lys332=)
c.85A= (p.Lys29=)
n.780A=
c.1684A= (p.Lys562=)
c.*665A= (n.*665A=)
c.*684A= (n.*684A=)
c.862A=
c.1609A= (p.Lys537=)
c.*642A= (n.*642A=)
c.529A= (p.Lys177=)
c.241A= (p.Lys81=)
c.1765A= (p.Lys589=)
c.1567A= (p.Lys523=)
c.721A= (p.Lys241=)
c.676A= (p.Lys226=)
c.508A= (p.Lys170=)
c.382A= (p.Lys128=)
n.1974A=
12g.32611218A>CCA384361119FGD4c.1273A>C (p.Lys425Gln)
c.1528A>C (p.Lys510Gln)
c.994A>C (p.Lys332Gln)
c.85A>C (p.Lys29Gln)
n.780A>C
c.1684A>C (p.Lys562Gln)
c.*665A>C (n.*665A>C)
c.*684A>C (n.*684A>C)
c.862A>C
c.1609A>C (p.Lys537Gln)
c.*642A>C (n.*642A>C)
c.529A>C (p.Lys177Gln)
c.241A>C (p.Lys81Gln)
c.1765A>C (p.Lys589Gln)
c.1567A>C (p.Lys523Gln)
c.721A>C (p.Lys241Gln)
c.676A>C (p.Lys226Gln)
c.508A>C (p.Lys170Gln)
c.382A>C (p.Lys128Gln)
n.1974A>C
12g.32611218A>GCA384361120FGD4c.1273A>G (p.Lys425Glu)
c.1528A>G (p.Lys510Glu)
c.994A>G (p.Lys332Glu)
c.85A>G (p.Lys29Glu)
n.780A>G
c.1684A>G (p.Lys562Glu)
c.*665A>G (n.*665A>G)
c.*684A>G (n.*684A>G)
c.862A>G
c.1609A>G (p.Lys537Glu)
c.*642A>G (n.*642A>G)
c.529A>G (p.Lys177Glu)
c.241A>G (p.Lys81Glu)
c.1765A>G (p.Lys589Glu)
c.1567A>G (p.Lys523Glu)
c.721A>G (p.Lys241Glu)
c.676A>G (p.Lys226Glu)
c.508A>G (p.Lys170Glu)
c.382A>G (p.Lys128Glu)
n.1974A>G
 dbSNP gnomAD v4
12g.32611218A>TCA384361121FGD4c.1273A>T (p.Lys425Ter)
c.1528A>T (p.Lys510Ter)
c.994A>T (p.Lys332Ter)
c.85A>T (p.Lys29Ter)
n.780A>T
c.1684A>T (p.Lys562Ter)
c.*665A>T (n.*665A>T)
c.*684A>T (n.*684A>T)
c.862A>T
c.1609A>T (p.Lys537Ter)
c.*642A>T (n.*642A>T)
c.529A>T (p.Lys177Ter)
c.241A>T (p.Lys81Ter)
c.1765A>T (p.Lys589Ter)
c.1567A>T (p.Lys523Ter)
c.721A>T (p.Lys241Ter)
c.676A>T (p.Lys226Ter)
c.508A>T (p.Lys170Ter)
c.382A>T (p.Lys128Ter)
n.1974A>T
12g.32611219A>CCA384361122FGD4c.1274A>C (p.Lys425Thr)
c.1529A>C (p.Lys510Thr)
c.995A>C (p.Lys332Thr)
c.86A>C (p.Lys29Thr)
n.781A>C
c.1685A>C (p.Lys562Thr)
c.*666A>C (n.*666A>C)
c.*685A>C (n.*685A>C)
c.863A>C
c.1610A>C (p.Lys537Thr)
c.*643A>C (n.*643A>C)
c.530A>C (p.Lys177Thr)
c.242A>C (p.Lys81Thr)
c.1766A>C (p.Lys589Thr)
c.1568A>C (p.Lys523Thr)
c.722A>C (p.Lys241Thr)
c.677A>C (p.Lys226Thr)
c.509A>C (p.Lys170Thr)
c.383A>C (p.Lys128Thr)
n.1975A>C
12g.32611219A>GCA384361123FGD4c.1274A>G (p.Lys425Arg)
c.1529A>G (p.Lys510Arg)
c.995A>G (p.Lys332Arg)
c.86A>G (p.Lys29Arg)
n.781A>G
c.1685A>G (p.Lys562Arg)
c.*666A>G (n.*666A>G)
c.*685A>G (n.*685A>G)
c.863A>G
c.1610A>G (p.Lys537Arg)
c.*643A>G (n.*643A>G)
c.530A>G (p.Lys177Arg)
c.242A>G (p.Lys81Arg)
c.1766A>G (p.Lys589Arg)
c.1568A>G (p.Lys523Arg)
c.722A>G (p.Lys241Arg)
c.677A>G (p.Lys226Arg)
c.509A>G (p.Lys170Arg)
c.383A>G (p.Lys128Arg)
n.1975A>G
12g.32611219A>TCA384361124FGD4c.1274A>T (p.Lys425Ile)
c.1529A>T (p.Lys510Ile)
c.995A>T (p.Lys332Ile)
c.86A>T (p.Lys29Ile)
n.781A>T
c.1685A>T (p.Lys562Ile)
c.*666A>T (n.*666A>T)
c.*685A>T (n.*685A>T)
c.863A>T
c.1610A>T (p.Lys537Ile)
c.*643A>T (n.*643A>T)
c.530A>T (p.Lys177Ile)
c.242A>T (p.Lys81Ile)
c.1766A>T (p.Lys589Ile)
c.1568A>T (p.Lys523Ile)
c.722A>T (p.Lys241Ile)
c.677A>T (p.Lys226Ile)
c.509A>T (p.Lys170Ile)
c.383A>T (p.Lys128Ile)
n.1975A>T
12g.32611220A>CCA384361125FGD4c.1275A>C (p.Lys425Asn)
c.1530A>C (p.Lys510Asn)
c.996A>C (p.Lys332Asn)
c.87A>C (p.Lys29Asn)
n.782A>C
c.1686A>C (p.Lys562Asn)
c.*667A>C (n.*667A>C)
c.*686A>C (n.*686A>C)
c.864A>C
c.1611A>C (p.Lys537Asn)
c.*644A>C (n.*644A>C)
c.531A>C (p.Lys177Asn)
c.243A>C (p.Lys81Asn)
c.1767A>C (p.Lys589Asn)
c.1569A>C (p.Lys523Asn)
c.723A>C (p.Lys241Asn)
c.678A>C (p.Lys226Asn)
c.510A>C (p.Lys170Asn)
c.384A>C (p.Lys128Asn)
n.1976A>C
12g.32611220A>GCA479167867FGD4c.1275A>G (p.Lys425=)
c.1530A>G (p.Lys510=)
c.996A>G (p.Lys332=)
c.87A>G (p.Lys29=)
n.782A>G
c.1686A>G (p.Lys562=)
c.*667A>G (n.*667A>G)
c.*686A>G (n.*686A>G)
c.864A>G
c.1611A>G (p.Lys537=)
c.*644A>G (n.*644A>G)
c.531A>G (p.Lys177=)
c.243A>G (p.Lys81=)
c.1767A>G (p.Lys589=)
c.1569A>G (p.Lys523=)
c.723A>G (p.Lys241=)
c.678A>G (p.Lys226=)
c.510A>G (p.Lys170=)
c.384A>G (p.Lys128=)
n.1976A>G
 gnomAD v4
12g.32611220A>TCA384361126FGD4c.1275A>T (p.Lys425Asn)
c.1530A>T (p.Lys510Asn)
c.996A>T (p.Lys332Asn)
c.87A>T (p.Lys29Asn)
n.782A>T
c.1686A>T (p.Lys562Asn)
c.*667A>T (n.*667A>T)
c.*686A>T (n.*686A>T)
c.864A>T
c.1611A>T (p.Lys537Asn)
c.*644A>T (n.*644A>T)
c.531A>T (p.Lys177Asn)
c.243A>T (p.Lys81Asn)
c.1767A>T (p.Lys589Asn)
c.1569A>T (p.Lys523Asn)
c.723A>T (p.Lys241Asn)
c.678A>T (p.Lys226Asn)
c.510A>T (p.Lys170Asn)
c.384A>T (p.Lys128Asn)
n.1976A>T
12g.32611221G>ACA384361127FGD4c.1276G>A (p.Glu426Lys)
c.1531G>A (p.Glu511Lys)
c.997G>A (p.Glu333Lys)
c.88G>A (p.Glu30Lys)
n.783G>A
c.1687G>A (p.Glu563Lys)
c.*668G>A (n.*668G>A)
c.*687G>A (n.*687G>A)
c.865G>A
c.1612G>A (p.Glu538Lys)
c.*645G>A (n.*645G>A)
c.532G>A (p.Glu178Lys)
c.244G>A (p.Glu82Lys)
c.1768G>A (p.Glu590Lys)
c.1570G>A (p.Glu524Lys)
c.724G>A (p.Glu242Lys)
c.679G>A (p.Glu227Lys)
c.511G>A (p.Glu171Lys)
c.385G>A (p.Glu129Lys)
n.1977G>A
12g.32611221G>CCA384361128FGD4c.1276G>C (p.Glu426Gln)
c.1531G>C (p.Glu511Gln)
c.997G>C (p.Glu333Gln)
c.88G>C (p.Glu30Gln)
n.783G>C
c.1687G>C (p.Glu563Gln)
c.*668G>C (n.*668G>C)
c.*687G>C (n.*687G>C)
c.865G>C
c.1612G>C (p.Glu538Gln)
c.*645G>C (n.*645G>C)
c.532G>C (p.Glu178Gln)
c.244G>C (p.Glu82Gln)
c.1768G>C (p.Glu590Gln)
c.1570G>C (p.Glu524Gln)
c.724G>C (p.Glu242Gln)
c.679G>C (p.Glu227Gln)
c.511G>C (p.Glu171Gln)
c.385G>C (p.Glu129Gln)
n.1977G>C
12g.32611221G>TCA384361129FGD4c.1276G>T (p.Glu426Ter)
c.1531G>T (p.Glu511Ter)
c.997G>T (p.Glu333Ter)
c.88G>T (p.Glu30Ter)
n.783G>T
c.1687G>T (p.Glu563Ter)
c.*668G>T (n.*668G>T)
c.*687G>T (n.*687G>T)
c.865G>T
c.1612G>T (p.Glu538Ter)
c.*645G>T (n.*645G>T)
c.532G>T (p.Glu178Ter)
c.244G>T (p.Glu82Ter)
c.1768G>T (p.Glu590Ter)
c.1570G>T (p.Glu524Ter)
c.724G>T (p.Glu242Ter)
c.679G>T (p.Glu227Ter)
c.511G>T (p.Glu171Ter)
c.385G>T (p.Glu129Ter)
n.1977G>T
12g.32611221_32611222delinsGACA2026267802FGD4c.1276_1277delinsGA (p.Glu426=)
c.1531_1532delinsGA (p.Glu511=)
c.997_998delinsGA (p.Glu333=)
c.88_89delinsGA (p.Glu30=)
n.783_784delinsGA
c.1687_1688delinsGA (p.Glu563=)
c.*668_*669delinsGA (n.*668_*669delinsGA)
c.*687_*688delinsGA (n.*687_*688delinsGA)
c.865_866delinsGA
c.1612_1613delinsGA (p.Glu538=)
c.*645_*646delinsGA (n.*645_*646delinsGA)
c.532_533delinsGA (p.Glu178=)
c.244_245delinsGA (p.Glu82=)
c.1768_1769delinsGA (p.Glu590=)
c.1570_1571delinsGA (p.Glu524=)
c.724_725delinsGA (p.Glu242=)
c.679_680delinsGA (p.Glu227=)
c.511_512delinsGA (p.Glu171=)
c.385_386delinsGA (p.Glu129=)
n.1977_1978delinsGA
12g.32611222A=CA2026267803FGD4c.1277A= (p.Glu426=)
c.1532A= (p.Glu511=)
c.998A= (p.Glu333=)
c.89A= (p.Glu30=)
n.784A=
c.1688A= (p.Glu563=)
c.*669A= (n.*669A=)
c.*688A= (n.*688A=)
c.866A=
c.1613A= (p.Glu538=)
c.*646A= (n.*646A=)
c.533A= (p.Glu178=)
c.245A= (p.Glu82=)
c.1769A= (p.Glu590=)
c.1571A= (p.Glu524=)
c.725A= (p.Glu242=)
c.680A= (p.Glu227=)
c.512A= (p.Glu171=)
c.386A= (p.Glu129=)
n.1978A=
12g.32611222A>CCA384361130FGD4c.1277A>C (p.Glu426Ala)
c.1532A>C (p.Glu511Ala)
c.998A>C (p.Glu333Ala)
c.89A>C (p.Glu30Ala)
n.784A>C
c.1688A>C (p.Glu563Ala)
c.*669A>C (n.*669A>C)
c.*688A>C (n.*688A>C)
c.866A>C
c.1613A>C (p.Glu538Ala)
c.*646A>C (n.*646A>C)
c.533A>C (p.Glu178Ala)
c.245A>C (p.Glu82Ala)
c.1769A>C (p.Glu590Ala)
c.1571A>C (p.Glu524Ala)
c.725A>C (p.Glu242Ala)
c.680A>C (p.Glu227Ala)
c.512A>C (p.Glu171Ala)
c.386A>C (p.Glu129Ala)
n.1978A>C
12g.32611222A>GCA384361131FGD4c.1277A>G (p.Glu426Gly)
c.1532A>G (p.Glu511Gly)
c.998A>G (p.Glu333Gly)
c.89A>G (p.Glu30Gly)
n.784A>G
c.1688A>G (p.Glu563Gly)
c.*669A>G (n.*669A>G)
c.*688A>G (n.*688A>G)
c.866A>G
c.1613A>G (p.Glu538Gly)
c.*646A>G (n.*646A>G)
c.533A>G (p.Glu178Gly)
c.245A>G (p.Glu82Gly)
c.1769A>G (p.Glu590Gly)
c.1571A>G (p.Glu524Gly)
c.725A>G (p.Glu242Gly)
c.680A>G (p.Glu227Gly)
c.512A>G (p.Glu171Gly)
c.386A>G (p.Glu129Gly)
n.1978A>G
 dbSNP gnomAD v2 gnomAD v4
12g.32611222A>TCA384361132FGD4c.1277A>T (p.Glu426Val)
c.1532A>T (p.Glu511Val)
c.998A>T (p.Glu333Val)
c.89A>T (p.Glu30Val)
n.784A>T
c.1688A>T (p.Glu563Val)
c.*669A>T (n.*669A>T)
c.*688A>T (n.*688A>T)
c.866A>T
c.1613A>T (p.Glu538Val)
c.*646A>T (n.*646A>T)
c.533A>T (p.Glu178Val)
c.245A>T (p.Glu82Val)
c.1769A>T (p.Glu590Val)
c.1571A>T (p.Glu524Val)
c.725A>T (p.Glu242Val)
c.680A>T (p.Glu227Val)
c.512A>T (p.Glu171Val)
c.386A>T (p.Glu129Val)
n.1978A>T
12g.32611223delCA6506856FGD4c.1278del (p.Gly427AspfsTer6)
c.1533del (p.Gly512AspfsTer6)
c.999del (p.Gly334AspfsTer6)
c.90del (p.Gly31AspfsTer6)
n.785del
c.1689del (p.Gly564AspfsTer6)
c.*670del (n.*670del)
c.*689del (n.*689del)
c.867del
c.1614del (p.Gly539AspfsTer6)
c.*647del (n.*647del)
c.534del (p.Gly179AspfsTer6)
c.246del (p.Gly83AspfsTer6)
c.1770del (p.Gly591AspfsTer6)
c.1572del (p.Gly525AspfsTer6)
c.726del (p.Gly243AspfsTer6)
c.681del (p.Gly228AspfsTer6)
c.513del (p.Gly172AspfsTer6)
c.387del (p.Gly130AspfsTer6)
n.1979del
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611223A=CA2026267804FGD4c.1278A= (p.Glu426=)
c.1533A= (p.Glu511=)
c.999A= (p.Glu333=)
c.90A= (p.Glu30=)
n.785A=
c.1689A= (p.Glu563=)
c.*670A= (n.*670A=)
c.*689A= (n.*689A=)
c.867A=
c.1614A= (p.Glu538=)
c.*647A= (n.*647A=)
c.534A= (p.Glu178=)
c.246A= (p.Glu82=)
c.1770A= (p.Glu590=)
c.1572A= (p.Glu524=)
c.726A= (p.Glu242=)
c.681A= (p.Glu227=)
c.513A= (p.Glu171=)
c.387A= (p.Glu129=)
n.1979A=
12g.32611223A>CCA10584432FGD4c.1278A>C (p.Glu426Asp)
c.1533A>C (p.Glu511Asp)
c.999A>C (p.Glu333Asp)
c.90A>C (p.Glu30Asp)
n.785A>C
c.1689A>C (p.Glu563Asp)
c.*670A>C (n.*670A>C)
c.*689A>C (n.*689A>C)
c.867A>C
c.1614A>C (p.Glu538Asp)
c.*647A>C (n.*647A>C)
c.534A>C (p.Glu178Asp)
c.246A>C (p.Glu82Asp)
c.1770A>C (p.Glu590Asp)
c.1572A>C (p.Glu524Asp)
c.726A>C (p.Glu242Asp)
c.681A>C (p.Glu227Asp)
c.513A>C (p.Glu171Asp)
c.387A>C (p.Glu129Asp)
n.1979A>C
 ClinVar dbSNP
12g.32611223A>GCA479167868FGD4c.1278A>G (p.Glu426=)
c.1533A>G (p.Glu511=)
c.999A>G (p.Glu333=)
c.90A>G (p.Glu30=)
n.785A>G
c.1689A>G (p.Glu563=)
c.*670A>G (n.*670A>G)
c.*689A>G (n.*689A>G)
c.867A>G
c.1614A>G (p.Glu538=)
c.*647A>G (n.*647A>G)
c.534A>G (p.Glu178=)
c.246A>G (p.Glu82=)
c.1770A>G (p.Glu590=)
c.1572A>G (p.Glu524=)
c.726A>G (p.Glu242=)
c.681A>G (p.Glu227=)
c.513A>G (p.Glu171=)
c.387A>G (p.Glu129=)
n.1979A>G
 dbSNP gnomAD v4
12g.32611223A>TCA384361133FGD4c.1278A>T (p.Glu426Asp)
c.1533A>T (p.Glu511Asp)
c.999A>T (p.Glu333Asp)
c.90A>T (p.Glu30Asp)
n.785A>T
c.1689A>T (p.Glu563Asp)
c.*670A>T (n.*670A>T)
c.*689A>T (n.*689A>T)
c.867A>T
c.1614A>T (p.Glu538Asp)
c.*647A>T (n.*647A>T)
c.534A>T (p.Glu178Asp)
c.246A>T (p.Glu82Asp)
c.1770A>T (p.Glu590Asp)
c.1572A>T (p.Glu524Asp)
c.726A>T (p.Glu242Asp)
c.681A>T (p.Glu227Asp)
c.513A>T (p.Glu171Asp)
c.387A>T (p.Glu129Asp)
n.1979A>T
12g.32611224G>ACA384361134FGD4c.1279G>A (p.Gly427Arg)
c.1534G>A (p.Gly512Arg)
c.1000G>A (p.Gly334Arg)
c.91G>A (p.Gly31Arg)
n.786G>A
c.1690G>A (p.Gly564Arg)
c.*671G>A (n.*671G>A)
c.*690G>A (n.*690G>A)
c.868G>A
c.1615G>A (p.Gly539Arg)
c.*648G>A (n.*648G>A)
c.535G>A (p.Gly179Arg)
c.247G>A (p.Gly83Arg)
c.1771G>A (p.Gly591Arg)
c.1573G>A (p.Gly525Arg)
c.727G>A (p.Gly243Arg)
c.682G>A (p.Gly228Arg)
c.514G>A (p.Gly172Arg)
c.388G>A (p.Gly130Arg)
n.1980G>A
12g.32611224G>CCA384361135FGD4c.1279G>C (p.Gly427Arg)
c.1534G>C (p.Gly512Arg)
c.1000G>C (p.Gly334Arg)
c.91G>C (p.Gly31Arg)
n.786G>C
c.1690G>C (p.Gly564Arg)
c.*671G>C (n.*671G>C)
c.*690G>C (n.*690G>C)
c.868G>C
c.1615G>C (p.Gly539Arg)
c.*648G>C (n.*648G>C)
c.535G>C (p.Gly179Arg)
c.247G>C (p.Gly83Arg)
c.1771G>C (p.Gly591Arg)
c.1573G>C (p.Gly525Arg)
c.727G>C (p.Gly243Arg)
c.682G>C (p.Gly228Arg)
c.514G>C (p.Gly172Arg)
c.388G>C (p.Gly130Arg)
n.1980G>C
12g.32611224G>TCA384361136FGD4c.1279G>T (p.Gly427Ter)
c.1534G>T (p.Gly512Ter)
c.1000G>T (p.Gly334Ter)
c.91G>T (p.Gly31Ter)
n.786G>T
c.1690G>T (p.Gly564Ter)
c.*671G>T (n.*671G>T)
c.*690G>T (n.*690G>T)
c.868G>T
c.1615G>T (p.Gly539Ter)
c.*648G>T (n.*648G>T)
c.535G>T (p.Gly179Ter)
c.247G>T (p.Gly83Ter)
c.1771G>T (p.Gly591Ter)
c.1573G>T (p.Gly525Ter)
c.727G>T (p.Gly243Ter)
c.682G>T (p.Gly228Ter)
c.514G>T (p.Gly172Ter)
c.388G>T (p.Gly130Ter)
n.1980G>T
12g.32611225G>ACA384361137FGD4c.1280G>A (p.Gly427Glu)
c.1535G>A (p.Gly512Glu)
c.1001G>A (p.Gly334Glu)
c.92G>A (p.Gly31Glu)
n.787G>A
c.1691G>A (p.Gly564Glu)
c.*672G>A (n.*672G>A)
c.*691G>A (n.*691G>A)
c.869G>A
c.1616G>A (p.Gly539Glu)
c.*649G>A (n.*649G>A)
c.536G>A (p.Gly179Glu)
c.248G>A (p.Gly83Glu)
c.1772G>A (p.Gly591Glu)
c.1574G>A (p.Gly525Glu)
c.728G>A (p.Gly243Glu)
c.683G>A (p.Gly228Glu)
c.515G>A (p.Gly172Glu)
c.389G>A (p.Gly130Glu)
n.1981G>A
12g.32611225G>CCA384361138FGD4c.1280G>C (p.Gly427Ala)
c.1535G>C (p.Gly512Ala)
c.1001G>C (p.Gly334Ala)
c.92G>C (p.Gly31Ala)
n.787G>C
c.1691G>C (p.Gly564Ala)
c.*672G>C (n.*672G>C)
c.*691G>C (n.*691G>C)
c.869G>C
c.1616G>C (p.Gly539Ala)
c.*649G>C (n.*649G>C)
c.536G>C (p.Gly179Ala)
c.248G>C (p.Gly83Ala)
c.1772G>C (p.Gly591Ala)
c.1574G>C (p.Gly525Ala)
c.728G>C (p.Gly243Ala)
c.683G>C (p.Gly228Ala)
c.515G>C (p.Gly172Ala)
c.389G>C (p.Gly130Ala)
n.1981G>C
12g.32611225G>TCA384361139FGD4c.1280G>T (p.Gly427Val)
c.1535G>T (p.Gly512Val)
c.1001G>T (p.Gly334Val)
c.92G>T (p.Gly31Val)
n.787G>T
c.1691G>T (p.Gly564Val)
c.*672G>T (n.*672G>T)
c.*691G>T (n.*691G>T)
c.869G>T
c.1616G>T (p.Gly539Val)
c.*649G>T (n.*649G>T)
c.536G>T (p.Gly179Val)
c.248G>T (p.Gly83Val)
c.1772G>T (p.Gly591Val)
c.1574G>T (p.Gly525Val)
c.728G>T (p.Gly243Val)
c.683G>T (p.Gly228Val)
c.515G>T (p.Gly172Val)
c.389G>T (p.Gly130Val)
n.1981G>T
12g.32611226A>CCA479167869FGD4c.1281A>C (p.Gly427=)
c.1536A>C (p.Gly512=)
c.1002A>C (p.Gly334=)
c.93A>C (p.Gly31=)
n.788A>C
c.1692A>C (p.Gly564=)
c.*673A>C (n.*673A>C)
c.*692A>C (n.*692A>C)
c.870A>C
c.1617A>C (p.Gly539=)
c.*650A>C (n.*650A>C)
c.537A>C (p.Gly179=)
c.249A>C (p.Gly83=)
c.1773A>C (p.Gly591=)
c.1575A>C (p.Gly525=)
c.729A>C (p.Gly243=)
c.684A>C (p.Gly228=)
c.516A>C (p.Gly172=)
c.390A>C (p.Gly130=)
n.1982A>C
12g.32611226A>GCA479167870FGD4c.1281A>G (p.Gly427=)
c.1536A>G (p.Gly512=)
c.1002A>G (p.Gly334=)
c.93A>G (p.Gly31=)
n.788A>G
c.1692A>G (p.Gly564=)
c.*673A>G (n.*673A>G)
c.*692A>G (n.*692A>G)
c.870A>G
c.1617A>G (p.Gly539=)
c.*650A>G (n.*650A>G)
c.537A>G (p.Gly179=)
c.249A>G (p.Gly83=)
c.1773A>G (p.Gly591=)
c.1575A>G (p.Gly525=)
c.729A>G (p.Gly243=)
c.684A>G (p.Gly228=)
c.516A>G (p.Gly172=)
c.390A>G (p.Gly130=)
n.1982A>G
12g.32611226A>TCA479167871FGD4c.1281A>T (p.Gly427=)
c.1536A>T (p.Gly512=)
c.1002A>T (p.Gly334=)
c.93A>T (p.Gly31=)
n.788A>T
c.1692A>T (p.Gly564=)
c.*673A>T (n.*673A>T)
c.*692A>T (n.*692A>T)
c.870A>T
c.1617A>T (p.Gly539=)
c.*650A>T (n.*650A>T)
c.537A>T (p.Gly179=)
c.249A>T (p.Gly83=)
c.1773A>T (p.Gly591=)
c.1575A>T (p.Gly525=)
c.729A>T (p.Gly243=)
c.684A>T (p.Gly228=)
c.516A>T (p.Gly172=)
c.390A>T (p.Gly130=)
n.1982A>T
12g.32611227C>ACA384361140FGD4c.1282C>A (p.Gln428Lys)
c.1537C>A (p.Gln513Lys)
c.1003C>A (p.Gln335Lys)
c.94C>A (p.Gln32Lys)
n.789C>A
c.1693C>A (p.Gln565Lys)
c.*674C>A (n.*674C>A)
c.*693C>A (n.*693C>A)
c.871C>A
c.1618C>A (p.Gln540Lys)
c.*651C>A (n.*651C>A)
c.538C>A (p.Gln180Lys)
c.250C>A (p.Gln84Lys)
c.1774C>A (p.Gln592Lys)
c.1576C>A (p.Gln526Lys)
c.730C>A (p.Gln244Lys)
c.685C>A (p.Gln229Lys)
c.517C>A (p.Gln173Lys)
c.391C>A (p.Gln131Lys)
n.1983C>A
12g.32611227C>GCA384361141FGD4c.1282C>G (p.Gln428Glu)
c.1537C>G (p.Gln513Glu)
c.1003C>G (p.Gln335Glu)
c.94C>G (p.Gln32Glu)
n.789C>G
c.1693C>G (p.Gln565Glu)
c.*674C>G (n.*674C>G)
c.*693C>G (n.*693C>G)
c.871C>G
c.1618C>G (p.Gln540Glu)
c.*651C>G (n.*651C>G)
c.538C>G (p.Gln180Glu)
c.250C>G (p.Gln84Glu)
c.1774C>G (p.Gln592Glu)
c.1576C>G (p.Gln526Glu)
c.730C>G (p.Gln244Glu)
c.685C>G (p.Gln229Glu)
c.517C>G (p.Gln173Glu)
c.391C>G (p.Gln131Glu)
n.1983C>G
12g.32611227C>TCA384361142FGD4c.1282C>T (p.Gln428Ter)
c.1537C>T (p.Gln513Ter)
c.1003C>T (p.Gln335Ter)
c.94C>T (p.Gln32Ter)
n.789C>T
c.1693C>T (p.Gln565Ter)
c.*674C>T (n.*674C>T)
c.*693C>T (n.*693C>T)
c.871C>T
c.1618C>T (p.Gln540Ter)
c.*651C>T (n.*651C>T)
c.538C>T (p.Gln180Ter)
c.250C>T (p.Gln84Ter)
c.1774C>T (p.Gln592Ter)
c.1576C>T (p.Gln526Ter)
c.730C>T (p.Gln244Ter)
c.685C>T (p.Gln229Ter)
c.517C>T (p.Gln173Ter)
c.391C>T (p.Gln131Ter)
n.1983C>T
 COSMIC COSMIC COSMIC
12g.32611228A=CA2026267805FGD4c.1283A= (p.Gln428=)
c.1538A= (p.Gln513=)
c.1004A= (p.Gln335=)
c.95A= (p.Gln32=)
n.790A=
c.1694A= (p.Gln565=)
c.*675A= (n.*675A=)
c.*694A= (n.*694A=)
c.872A=
c.1619A= (p.Gln540=)
c.*652A= (n.*652A=)
c.539A= (p.Gln180=)
c.251A= (p.Gln84=)
c.1775A= (p.Gln592=)
c.1577A= (p.Gln526=)
c.731A= (p.Gln244=)
c.686A= (p.Gln229=)
c.518A= (p.Gln173=)
c.392A= (p.Gln131=)
n.1984A=
12g.32611228A>CCA6506857FGD4c.1283A>C (p.Gln428Pro)
c.1538A>C (p.Gln513Pro)
c.1004A>C (p.Gln335Pro)
c.95A>C (p.Gln32Pro)
n.790A>C
c.1694A>C (p.Gln565Pro)
c.*675A>C (n.*675A>C)
c.*694A>C (n.*694A>C)
c.872A>C
c.1619A>C (p.Gln540Pro)
c.*652A>C (n.*652A>C)
c.539A>C (p.Gln180Pro)
c.251A>C (p.Gln84Pro)
c.1775A>C (p.Gln592Pro)
c.1577A>C (p.Gln526Pro)
c.731A>C (p.Gln244Pro)
c.686A>C (p.Gln229Pro)
c.518A>C (p.Gln173Pro)
c.392A>C (p.Gln131Pro)
n.1984A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611228A>GCA384361143FGD4c.1283A>G (p.Gln428Arg)
c.1538A>G (p.Gln513Arg)
c.1004A>G (p.Gln335Arg)
c.95A>G (p.Gln32Arg)
n.790A>G
c.1694A>G (p.Gln565Arg)
c.*675A>G (n.*675A>G)
c.*694A>G (n.*694A>G)
c.872A>G
c.1619A>G (p.Gln540Arg)
c.*652A>G (n.*652A>G)
c.539A>G (p.Gln180Arg)
c.251A>G (p.Gln84Arg)
c.1775A>G (p.Gln592Arg)
c.1577A>G (p.Gln526Arg)
c.731A>G (p.Gln244Arg)
c.686A>G (p.Gln229Arg)
c.518A>G (p.Gln173Arg)
c.392A>G (p.Gln131Arg)
n.1984A>G
12g.32611228A>TCA384361144FGD4c.1283A>T (p.Gln428Leu)
c.1538A>T (p.Gln513Leu)
c.1004A>T (p.Gln335Leu)
c.95A>T (p.Gln32Leu)
n.790A>T
c.1694A>T (p.Gln565Leu)
c.*675A>T (n.*675A>T)
c.*694A>T (n.*694A>T)
c.872A>T
c.1619A>T (p.Gln540Leu)
c.*652A>T (n.*652A>T)
c.539A>T (p.Gln180Leu)
c.251A>T (p.Gln84Leu)
c.1775A>T (p.Gln592Leu)
c.1577A>T (p.Gln526Leu)
c.731A>T (p.Gln244Leu)
c.686A>T (p.Gln229Leu)
c.518A>T (p.Gln173Leu)
c.392A>T (p.Gln131Leu)
n.1984A>T
12g.32611229G>ACA479167872FGD4c.1284G>A (p.Gln428=)
c.1539G>A (p.Gln513=)
c.1005G>A (p.Gln335=)
c.96G>A (p.Gln32=)
n.791G>A
c.1695G>A (p.Gln565=)
c.*676G>A (n.*676G>A)
c.*695G>A (n.*695G>A)
c.873G>A
c.1620G>A (p.Gln540=)
c.*653G>A (n.*653G>A)
c.540G>A (p.Gln180=)
c.252G>A (p.Gln84=)
c.1776G>A (p.Gln592=)
c.1578G>A (p.Gln526=)
c.732G>A (p.Gln244=)
c.687G>A (p.Gln229=)
c.519G>A (p.Gln173=)
c.393G>A (p.Gln131=)
n.1985G>A
 dbSNP
12g.32611229G>CCA384361145FGD4c.1284G>C (p.Gln428His)
c.1539G>C (p.Gln513His)
c.1005G>C (p.Gln335His)
c.96G>C (p.Gln32His)
n.791G>C
c.1695G>C (p.Gln565His)
c.*676G>C (n.*676G>C)
c.*695G>C (n.*695G>C)
c.873G>C
c.1620G>C (p.Gln540His)
c.*653G>C (n.*653G>C)
c.540G>C (p.Gln180His)
c.252G>C (p.Gln84His)
c.1776G>C (p.Gln592His)
c.1578G>C (p.Gln526His)
c.732G>C (p.Gln244His)
c.687G>C (p.Gln229His)
c.519G>C (p.Gln173His)
c.393G>C (p.Gln131His)
n.1985G>C
 dbSNP
12g.32611229G=CA2026267806FGD4c.1284G= (p.Gln428=)
c.1539G= (p.Gln513=)
c.1005G= (p.Gln335=)
c.96G= (p.Gln32=)
n.791G=
c.1695G= (p.Gln565=)
c.*676G= (n.*676G=)
c.*695G= (n.*695G=)
c.873G=
c.1620G= (p.Gln540=)
c.*653G= (n.*653G=)
c.540G= (p.Gln180=)
c.252G= (p.Gln84=)
c.1776G= (p.Gln592=)
c.1578G= (p.Gln526=)
c.732G= (p.Gln244=)
c.687G= (p.Gln229=)
c.519G= (p.Gln173=)
c.393G= (p.Gln131=)
n.1985G=
12g.32611229G>TCA384361146FGD4c.1284G>T (p.Gln428His)
c.1539G>T (p.Gln513His)
c.1005G>T (p.Gln335His)
c.96G>T (p.Gln32His)
n.791G>T
c.1695G>T (p.Gln565His)
c.*676G>T (n.*676G>T)
c.*695G>T (n.*695G>T)
c.873G>T
c.1620G>T (p.Gln540His)
c.*653G>T (n.*653G>T)
c.540G>T (p.Gln180His)
c.252G>T (p.Gln84His)
c.1776G>T (p.Gln592His)
c.1578G>T (p.Gln526His)
c.732G>T (p.Gln244His)
c.687G>T (p.Gln229His)
c.519G>T (p.Gln173His)
c.393G>T (p.Gln131His)
n.1985G>T
12g.32611230A>CCA384361147FGD4c.1285A>C (p.Ile429Leu)
c.1540A>C (p.Ile514Leu)
c.1006A>C (p.Ile336Leu)
c.97A>C (p.Ile33Leu)
n.792A>C
c.1696A>C (p.Ile566Leu)
c.*677A>C (n.*677A>C)
c.*696A>C (n.*696A>C)
c.874A>C
c.1621A>C (p.Ile541Leu)
c.*654A>C (n.*654A>C)
c.541A>C (p.Ile181Leu)
c.253A>C (p.Ile85Leu)
c.1777A>C (p.Ile593Leu)
c.1579A>C (p.Ile527Leu)
c.733A>C (p.Ile245Leu)
c.688A>C (p.Ile230Leu)
c.520A>C (p.Ile174Leu)
c.394A>C (p.Ile132Leu)
n.1986A>C
12g.32611230A>GCA384361148FGD4c.1285A>G (p.Ile429Val)
c.1540A>G (p.Ile514Val)
c.1006A>G (p.Ile336Val)
c.97A>G (p.Ile33Val)
n.792A>G
c.1696A>G (p.Ile566Val)
c.*677A>G (n.*677A>G)
c.*696A>G (n.*696A>G)
c.874A>G
c.1621A>G (p.Ile541Val)
c.*654A>G (n.*654A>G)
c.541A>G (p.Ile181Val)
c.253A>G (p.Ile85Val)
c.1777A>G (p.Ile593Val)
c.1579A>G (p.Ile527Val)
c.733A>G (p.Ile245Val)
c.688A>G (p.Ile230Val)
c.520A>G (p.Ile174Val)
c.394A>G (p.Ile132Val)
n.1986A>G
12g.32611230A>TCA384361149FGD4c.1285A>T (p.Ile429Phe)
c.1540A>T (p.Ile514Phe)
c.1006A>T (p.Ile336Phe)
c.97A>T (p.Ile33Phe)
n.792A>T
c.1696A>T (p.Ile566Phe)
c.*677A>T (n.*677A>T)
c.*696A>T (n.*696A>T)
c.874A>T
c.1621A>T (p.Ile541Phe)
c.*654A>T (n.*654A>T)
c.541A>T (p.Ile181Phe)
c.253A>T (p.Ile85Phe)
c.1777A>T (p.Ile593Phe)
c.1579A>T (p.Ile527Phe)
c.733A>T (p.Ile245Phe)
c.688A>T (p.Ile230Phe)
c.520A>T (p.Ile174Phe)
c.394A>T (p.Ile132Phe)
n.1986A>T
12g.32611231T>ACA384361150FGD4c.1286T>A (p.Ile429Asn)
c.1541T>A (p.Ile514Asn)
c.1007T>A (p.Ile336Asn)
c.98T>A (p.Ile33Asn)
n.793T>A
c.1697T>A (p.Ile566Asn)
c.*678T>A (n.*678T>A)
c.*697T>A (n.*697T>A)
c.875T>A
c.1622T>A (p.Ile541Asn)
c.*655T>A (n.*655T>A)
c.542T>A (p.Ile181Asn)
c.254T>A (p.Ile85Asn)
c.1778T>A (p.Ile593Asn)
c.1580T>A (p.Ile527Asn)
c.734T>A (p.Ile245Asn)
c.689T>A (p.Ile230Asn)
c.521T>A (p.Ile174Asn)
c.395T>A (p.Ile132Asn)
n.1987T>A
12g.32611231T>CCA384361151FGD4c.1286T>C (p.Ile429Thr)
c.1541T>C (p.Ile514Thr)
c.1007T>C (p.Ile336Thr)
c.98T>C (p.Ile33Thr)
n.793T>C
c.1697T>C (p.Ile566Thr)
c.*678T>C (n.*678T>C)
c.*697T>C (n.*697T>C)
c.875T>C
c.1622T>C (p.Ile541Thr)
c.*655T>C (n.*655T>C)
c.542T>C (p.Ile181Thr)
c.254T>C (p.Ile85Thr)
c.1778T>C (p.Ile593Thr)
c.1580T>C (p.Ile527Thr)
c.734T>C (p.Ile245Thr)
c.689T>C (p.Ile230Thr)
c.521T>C (p.Ile174Thr)
c.395T>C (p.Ile132Thr)
n.1987T>C
 gnomAD v4
12g.32611231T>GCA384361152FGD4c.1286T>G (p.Ile429Ser)
c.1541T>G (p.Ile514Ser)
c.1007T>G (p.Ile336Ser)
c.98T>G (p.Ile33Ser)
n.793T>G
c.1697T>G (p.Ile566Ser)
c.*678T>G (n.*678T>G)
c.*697T>G (n.*697T>G)
c.875T>G
c.1622T>G (p.Ile541Ser)
c.*655T>G (n.*655T>G)
c.542T>G (p.Ile181Ser)
c.254T>G (p.Ile85Ser)
c.1778T>G (p.Ile593Ser)
c.1580T>G (p.Ile527Ser)
c.734T>G (p.Ile245Ser)
c.689T>G (p.Ile230Ser)
c.521T>G (p.Ile174Ser)
c.395T>G (p.Ile132Ser)
n.1987T>G
12g.32611232C>ACA479167873FGD4c.1287C>A (p.Ile429=)
c.1542C>A (p.Ile514=)
c.1008C>A (p.Ile336=)
c.99C>A (p.Ile33=)
n.794C>A
c.1698C>A (p.Ile566=)
c.*679C>A (n.*679C>A)
c.*698C>A (n.*698C>A)
c.876C>A
c.1623C>A (p.Ile541=)
c.*656C>A (n.*656C>A)
c.543C>A (p.Ile181=)
c.255C>A (p.Ile85=)
c.1779C>A (p.Ile593=)
c.1581C>A (p.Ile527=)
c.735C>A (p.Ile245=)
c.690C>A (p.Ile230=)
c.522C>A (p.Ile174=)
c.396C>A (p.Ile132=)
n.1988C>A
 gnomAD v4
12g.32611232C>GCA384361153FGD4c.1287C>G (p.Ile429Met)
c.1542C>G (p.Ile514Met)
c.1008C>G (p.Ile336Met)
c.99C>G (p.Ile33Met)
n.794C>G
c.1698C>G (p.Ile566Met)
c.*679C>G (n.*679C>G)
c.*698C>G (n.*698C>G)
c.876C>G
c.1623C>G (p.Ile541Met)
c.*656C>G (n.*656C>G)
c.543C>G (p.Ile181Met)
c.255C>G (p.Ile85Met)
c.1779C>G (p.Ile593Met)
c.1581C>G (p.Ile527Met)
c.735C>G (p.Ile245Met)
c.690C>G (p.Ile230Met)
c.522C>G (p.Ile174Met)
c.396C>G (p.Ile132Met)
n.1988C>G
12g.32611232C>TCA479167874FGD4c.1287C>T (p.Ile429=)
c.1542C>T (p.Ile514=)
c.1008C>T (p.Ile336=)
c.99C>T (p.Ile33=)
n.794C>T
c.1698C>T (p.Ile566=)
c.*679C>T (n.*679C>T)
c.*698C>T (n.*698C>T)
c.876C>T
c.1623C>T (p.Ile541=)
c.*656C>T (n.*656C>T)
c.543C>T (p.Ile181=)
c.255C>T (p.Ile85=)
c.1779C>T (p.Ile593=)
c.1581C>T (p.Ile527=)
c.735C>T (p.Ile245=)
c.690C>T (p.Ile230=)
c.522C>T (p.Ile174=)
c.396C>T (p.Ile132=)
n.1988C>T
12g.32611233C>ACA384361154FGD4c.1288C>A (p.Leu430Ile)
c.1543C>A (p.Leu515Ile)
c.1009C>A (p.Leu337Ile)
c.100C>A (p.Leu34Ile)
n.795C>A
c.1699C>A (p.Leu567Ile)
c.*680C>A (n.*680C>A)
c.*699C>A (n.*699C>A)
c.877C>A
c.1624C>A (p.Leu542Ile)
c.*657C>A (n.*657C>A)
c.544C>A (p.Leu182Ile)
c.256C>A (p.Leu86Ile)
c.1780C>A (p.Leu594Ile)
c.1582C>A (p.Leu528Ile)
c.736C>A (p.Leu246Ile)
c.691C>A (p.Leu231Ile)
c.523C>A (p.Leu175Ile)
c.397C>A (p.Leu133Ile)
n.1989C>A
12g.32611233C>GCA384361155FGD4c.1288C>G (p.Leu430Val)
c.1543C>G (p.Leu515Val)
c.1009C>G (p.Leu337Val)
c.100C>G (p.Leu34Val)
n.795C>G
c.1699C>G (p.Leu567Val)
c.*680C>G (n.*680C>G)
c.*699C>G (n.*699C>G)
c.877C>G
c.1624C>G (p.Leu542Val)
c.*657C>G (n.*657C>G)
c.544C>G (p.Leu182Val)
c.256C>G (p.Leu86Val)
c.1780C>G (p.Leu594Val)
c.1582C>G (p.Leu528Val)
c.736C>G (p.Leu246Val)
c.691C>G (p.Leu231Val)
c.523C>G (p.Leu175Val)
c.397C>G (p.Leu133Val)
n.1989C>G
12g.32611233C>TCA384361156FGD4c.1288C>T (p.Leu430Phe)
c.1543C>T (p.Leu515Phe)
c.1009C>T (p.Leu337Phe)
c.100C>T (p.Leu34Phe)
n.795C>T
c.1699C>T (p.Leu567Phe)
c.*680C>T (n.*680C>T)
c.*699C>T (n.*699C>T)
c.877C>T
c.1624C>T (p.Leu542Phe)
c.*657C>T (n.*657C>T)
c.544C>T (p.Leu182Phe)
c.256C>T (p.Leu86Phe)
c.1780C>T (p.Leu594Phe)
c.1582C>T (p.Leu528Phe)
c.736C>T (p.Leu246Phe)
c.691C>T (p.Leu231Phe)
c.523C>T (p.Leu175Phe)
c.397C>T (p.Leu133Phe)
n.1989C>T
 ClinVar
12g.32611234T>ACA384361157FGD4c.1289T>A (p.Leu430His)
c.1544T>A (p.Leu515His)
c.1010T>A (p.Leu337His)
c.101T>A (p.Leu34His)
n.796T>A
c.1700T>A (p.Leu567His)
c.*681T>A (n.*681T>A)
c.*700T>A (n.*700T>A)
c.878T>A
c.1625T>A (p.Leu542His)
c.*658T>A (n.*658T>A)
c.545T>A (p.Leu182His)
c.257T>A (p.Leu86His)
c.1781T>A (p.Leu594His)
c.1583T>A (p.Leu528His)
c.737T>A (p.Leu246His)
c.692T>A (p.Leu231His)
c.524T>A (p.Leu175His)
c.398T>A (p.Leu133His)
n.1990T>A
 gnomAD v4
12g.32611234T>CCA384361158FGD4c.1289T>C (p.Leu430Pro)
c.1544T>C (p.Leu515Pro)
c.1010T>C (p.Leu337Pro)
c.101T>C (p.Leu34Pro)
n.796T>C
c.1700T>C (p.Leu567Pro)
c.*681T>C (n.*681T>C)
c.*700T>C (n.*700T>C)
c.878T>C
c.1625T>C (p.Leu542Pro)
c.*658T>C (n.*658T>C)
c.545T>C (p.Leu182Pro)
c.257T>C (p.Leu86Pro)
c.1781T>C (p.Leu594Pro)
c.1583T>C (p.Leu528Pro)
c.737T>C (p.Leu246Pro)
c.692T>C (p.Leu231Pro)
c.524T>C (p.Leu175Pro)
c.398T>C (p.Leu133Pro)
n.1990T>C
12g.32611234T>GCA384361159FGD4c.1289T>G (p.Leu430Arg)
c.1544T>G (p.Leu515Arg)
c.1010T>G (p.Leu337Arg)
c.101T>G (p.Leu34Arg)
n.796T>G
c.1700T>G (p.Leu567Arg)
c.*681T>G (n.*681T>G)
c.*700T>G (n.*700T>G)
c.878T>G
c.1625T>G (p.Leu542Arg)
c.*658T>G (n.*658T>G)
c.545T>G (p.Leu182Arg)
c.257T>G (p.Leu86Arg)
c.1781T>G (p.Leu594Arg)
c.1583T>G (p.Leu528Arg)
c.737T>G (p.Leu246Arg)
c.692T>G (p.Leu231Arg)
c.524T>G (p.Leu175Arg)
c.398T>G (p.Leu133Arg)
n.1990T>G
12g.32611235C>ACA479167876FGD4c.1290C>A (p.Leu430=)
c.1545C>A (p.Leu515=)
c.1011C>A (p.Leu337=)
c.102C>A (p.Leu34=)
n.797C>A
c.1701C>A (p.Leu567=)
c.*682C>A (n.*682C>A)
c.*701C>A (n.*701C>A)
c.879C>A
c.1626C>A (p.Leu542=)
c.*659C>A (n.*659C>A)
c.546C>A (p.Leu182=)
c.258C>A (p.Leu86=)
c.1782C>A (p.Leu594=)
c.1584C>A (p.Leu528=)
c.738C>A (p.Leu246=)
c.693C>A (p.Leu231=)
c.525C>A (p.Leu175=)
c.399C>A (p.Leu133=)
n.1991C>A
12g.32611235C>GCA479167877FGD4c.1290C>G (p.Leu430=)
c.1545C>G (p.Leu515=)
c.1011C>G (p.Leu337=)
c.102C>G (p.Leu34=)
n.797C>G
c.1701C>G (p.Leu567=)
c.*682C>G (n.*682C>G)
c.*701C>G (n.*701C>G)
c.879C>G
c.1626C>G (p.Leu542=)
c.*659C>G (n.*659C>G)
c.546C>G (p.Leu182=)
c.258C>G (p.Leu86=)
c.1782C>G (p.Leu594=)
c.1584C>G (p.Leu528=)
c.738C>G (p.Leu246=)
c.693C>G (p.Leu231=)
c.525C>G (p.Leu175=)
c.399C>G (p.Leu133=)
n.1991C>G
12g.32611235C>TCA479167875FGD4c.1290C>T (p.Leu430=)
c.1545C>T (p.Leu515=)
c.1011C>T (p.Leu337=)
c.102C>T (p.Leu34=)
n.797C>T
c.1701C>T (p.Leu567=)
c.*682C>T (n.*682C>T)
c.*701C>T (n.*701C>T)
c.879C>T
c.1626C>T (p.Leu542=)
c.*659C>T (n.*659C>T)
c.546C>T (p.Leu182=)
c.258C>T (p.Leu86=)
c.1782C>T (p.Leu594=)
c.1584C>T (p.Leu528=)
c.738C>T (p.Leu246=)
c.693C>T (p.Leu231=)
c.525C>T (p.Leu175=)
c.399C>T (p.Leu133=)
n.1991C>T
12g.32611236A>CCA384361162FGD4c.1291A>C (p.Lys431Gln)
c.1546A>C (p.Lys516Gln)
c.1012A>C (p.Lys338Gln)
c.103A>C (p.Lys35Gln)
n.798A>C
c.1702A>C (p.Lys568Gln)
c.*683A>C (n.*683A>C)
c.*702A>C (n.*702A>C)
c.880A>C
c.1627A>C (p.Lys543Gln)
c.*660A>C (n.*660A>C)
c.547A>C (p.Lys183Gln)
c.259A>C (p.Lys87Gln)
c.1783A>C (p.Lys595Gln)
c.1585A>C (p.Lys529Gln)
c.739A>C (p.Lys247Gln)
c.694A>C (p.Lys232Gln)
c.526A>C (p.Lys176Gln)
c.400A>C (p.Lys134Gln)
n.1992A>C
12g.32611236A>GCA384361160FGD4c.1291A>G (p.Lys431Glu)
c.1546A>G (p.Lys516Glu)
c.1012A>G (p.Lys338Glu)
c.103A>G (p.Lys35Glu)
n.798A>G
c.1702A>G (p.Lys568Glu)
c.*683A>G (n.*683A>G)
c.*702A>G (n.*702A>G)
c.880A>G
c.1627A>G (p.Lys543Glu)
c.*660A>G (n.*660A>G)
c.547A>G (p.Lys183Glu)
c.259A>G (p.Lys87Glu)
c.1783A>G (p.Lys595Glu)
c.1585A>G (p.Lys529Glu)
c.739A>G (p.Lys247Glu)
c.694A>G (p.Lys232Glu)
c.526A>G (p.Lys176Glu)
c.400A>G (p.Lys134Glu)
n.1992A>G
12g.32611236A>TCA384361161FGD4c.1291A>T (p.Lys431Ter)
c.1546A>T (p.Lys516Ter)
c.1012A>T (p.Lys338Ter)
c.103A>T (p.Lys35Ter)
n.798A>T
c.1702A>T (p.Lys568Ter)
c.*683A>T (n.*683A>T)
c.*702A>T (n.*702A>T)
c.880A>T
c.1627A>T (p.Lys543Ter)
c.*660A>T (n.*660A>T)
c.547A>T (p.Lys183Ter)
c.259A>T (p.Lys87Ter)
c.1783A>T (p.Lys595Ter)
c.1585A>T (p.Lys529Ter)
c.739A>T (p.Lys247Ter)
c.694A>T (p.Lys232Ter)
c.526A>T (p.Lys176Ter)
c.400A>T (p.Lys134Ter)
n.1992A>T
12g.32611237A=CA2026267807FGD4c.1292A= (p.Lys431=)
c.1547A= (p.Lys516=)
c.1013A= (p.Lys338=)
c.104A= (p.Lys35=)
n.799A=
c.1703A= (p.Lys568=)
c.*684A= (n.*684A=)
c.*703A= (n.*703A=)
c.881A=
c.1628A= (p.Lys543=)
c.*661A= (n.*661A=)
c.548A= (p.Lys183=)
c.260A= (p.Lys87=)
c.1784A= (p.Lys595=)
c.1586A= (p.Lys529=)
c.740A= (p.Lys247=)
c.695A= (p.Lys232=)
c.527A= (p.Lys176=)
c.401A= (p.Lys134=)
n.1993A=
12g.32611237A>CCA384361163FGD4c.1292A>C (p.Lys431Thr)
c.1547A>C (p.Lys516Thr)
c.1013A>C (p.Lys338Thr)
c.104A>C (p.Lys35Thr)
n.799A>C
c.1703A>C (p.Lys568Thr)
c.*684A>C (n.*684A>C)
c.*703A>C (n.*703A>C)
c.881A>C
c.1628A>C (p.Lys543Thr)
c.*661A>C (n.*661A>C)
c.548A>C (p.Lys183Thr)
c.260A>C (p.Lys87Thr)
c.1784A>C (p.Lys595Thr)
c.1586A>C (p.Lys529Thr)
c.740A>C (p.Lys247Thr)
c.695A>C (p.Lys232Thr)
c.527A>C (p.Lys176Thr)
c.401A>C (p.Lys134Thr)
n.1993A>C
 gnomAD v4
12g.32611237A>GCA384361164FGD4c.1292A>G (p.Lys431Arg)
c.1547A>G (p.Lys516Arg)
c.1013A>G (p.Lys338Arg)
c.104A>G (p.Lys35Arg)
n.799A>G
c.1703A>G (p.Lys568Arg)
c.*684A>G (n.*684A>G)
c.*703A>G (n.*703A>G)
c.881A>G
c.1628A>G (p.Lys543Arg)
c.*661A>G (n.*661A>G)
c.548A>G (p.Lys183Arg)
c.260A>G (p.Lys87Arg)
c.1784A>G (p.Lys595Arg)
c.1586A>G (p.Lys529Arg)
c.740A>G (p.Lys247Arg)
c.695A>G (p.Lys232Arg)
c.527A>G (p.Lys176Arg)
c.401A>G (p.Lys134Arg)
n.1993A>G
12g.32611237A>TCA384361165FGD4c.1292A>T (p.Lys431Ile)
c.1547A>T (p.Lys516Ile)
c.1013A>T (p.Lys338Ile)
c.104A>T (p.Lys35Ile)
n.799A>T
c.1703A>T (p.Lys568Ile)
c.*684A>T (n.*684A>T)
c.*703A>T (n.*703A>T)
c.881A>T
c.1628A>T (p.Lys543Ile)
c.*661A>T (n.*661A>T)
c.548A>T (p.Lys183Ile)
c.260A>T (p.Lys87Ile)
c.1784A>T (p.Lys595Ile)
c.1586A>T (p.Lys529Ile)
c.740A>T (p.Lys247Ile)
c.695A>T (p.Lys232Ile)
c.527A>T (p.Lys176Ile)
c.401A>T (p.Lys134Ile)
n.1993A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.32611238A>CCA384361166FGD4c.1293A>C (p.Lys431Asn)
c.1548A>C (p.Lys516Asn)
c.1014A>C (p.Lys338Asn)
c.105A>C (p.Lys35Asn)
n.800A>C
c.1704A>C (p.Lys568Asn)
c.*685A>C (n.*685A>C)
c.*704A>C (n.*704A>C)
c.882A>C
c.1629A>C (p.Lys543Asn)
c.*662A>C (n.*662A>C)
c.549A>C (p.Lys183Asn)
c.261A>C (p.Lys87Asn)
c.1785A>C (p.Lys595Asn)
c.1587A>C (p.Lys529Asn)
c.741A>C (p.Lys247Asn)
c.696A>C (p.Lys232Asn)
c.528A>C (p.Lys176Asn)
c.402A>C (p.Lys134Asn)
n.1994A>C
12g.32611238A>GCA479167878FGD4c.1293A>G (p.Lys431=)
c.1548A>G (p.Lys516=)
c.1014A>G (p.Lys338=)
c.105A>G (p.Lys35=)
n.800A>G
c.1704A>G (p.Lys568=)
c.*685A>G (n.*685A>G)
c.*704A>G (n.*704A>G)
c.882A>G
c.1629A>G (p.Lys543=)
c.*662A>G (n.*662A>G)
c.549A>G (p.Lys183=)
c.261A>G (p.Lys87=)
c.1785A>G (p.Lys595=)
c.1587A>G (p.Lys529=)
c.741A>G (p.Lys247=)
c.696A>G (p.Lys232=)
c.528A>G (p.Lys176=)
c.402A>G (p.Lys134=)
n.1994A>G
12g.32611238A>TCA384361167FGD4c.1293A>T (p.Lys431Asn)
c.1548A>T (p.Lys516Asn)
c.1014A>T (p.Lys338Asn)
c.105A>T (p.Lys35Asn)
n.800A>T
c.1704A>T (p.Lys568Asn)
c.*685A>T (n.*685A>T)
c.*704A>T (n.*704A>T)
c.882A>T
c.1629A>T (p.Lys543Asn)
c.*662A>T (n.*662A>T)
c.549A>T (p.Lys183Asn)
c.261A>T (p.Lys87Asn)
c.1785A>T (p.Lys595Asn)
c.1587A>T (p.Lys529Asn)
c.741A>T (p.Lys247Asn)
c.696A>T (p.Lys232Asn)
c.528A>T (p.Lys176Asn)
c.402A>T (p.Lys134Asn)
n.1994A>T
12g.32611239C>ACA384361168FGD4c.1294C>A (p.Leu432Ile)
c.1549C>A (p.Leu517Ile)
c.1015C>A (p.Leu339Ile)
c.106C>A (p.Leu36Ile)
n.801C>A
c.1705C>A (p.Leu569Ile)
c.*686C>A (n.*686C>A)
c.*705C>A (n.*705C>A)
c.883C>A
c.1630C>A (p.Leu544Ile)
c.*663C>A (n.*663C>A)
c.550C>A (p.Leu184Ile)
c.262C>A (p.Leu88Ile)
c.1786C>A (p.Leu596Ile)
c.1588C>A (p.Leu530Ile)
c.742C>A (p.Leu248Ile)
c.697C>A (p.Leu233Ile)
c.529C>A (p.Leu177Ile)
c.403C>A (p.Leu135Ile)
n.1995C>A
12g.32611239C=CA2026267808FGD4c.1294C= (p.Leu432=)
c.1549C= (p.Leu517=)
c.1015C= (p.Leu339=)
c.106C= (p.Leu36=)
n.801C=
c.1705C= (p.Leu569=)
c.*686C= (n.*686C=)
c.*705C= (n.*705C=)
c.883C=
c.1630C= (p.Leu544=)
c.*663C= (n.*663C=)
c.550C= (p.Leu184=)
c.262C= (p.Leu88=)
c.1786C= (p.Leu596=)
c.1588C= (p.Leu530=)
c.742C= (p.Leu248=)
c.697C= (p.Leu233=)
c.529C= (p.Leu177=)
c.403C= (p.Leu135=)
n.1995C=
12g.32611239C>GCA384361169FGD4c.1294C>G (p.Leu432Val)
c.1549C>G (p.Leu517Val)
c.1015C>G (p.Leu339Val)
c.106C>G (p.Leu36Val)
n.801C>G
c.1705C>G (p.Leu569Val)
c.*686C>G (n.*686C>G)
c.*705C>G (n.*705C>G)
c.883C>G
c.1630C>G (p.Leu544Val)
c.*663C>G (n.*663C>G)
c.550C>G (p.Leu184Val)
c.262C>G (p.Leu88Val)
c.1786C>G (p.Leu596Val)
c.1588C>G (p.Leu530Val)
c.742C>G (p.Leu248Val)
c.697C>G (p.Leu233Val)
c.529C>G (p.Leu177Val)
c.403C>G (p.Leu135Val)
n.1995C>G
 dbSNP
12g.32611239C>TCA235216107FGD4c.1294C>T (p.Leu432=)
c.1549C>T (p.Leu517=)
c.1015C>T (p.Leu339=)
c.106C>T (p.Leu36=)
n.801C>T
c.1705C>T (p.Leu569=)
c.*686C>T (n.*686C>T)
c.*705C>T (n.*705C>T)
c.883C>T
c.1630C>T (p.Leu544=)
c.*663C>T (n.*663C>T)
c.550C>T (p.Leu184=)
c.262C>T (p.Leu88=)
c.1786C>T (p.Leu596=)
c.1588C>T (p.Leu530=)
c.742C>T (p.Leu248=)
c.697C>T (p.Leu233=)
c.529C>T (p.Leu177=)
c.403C>T (p.Leu135=)
n.1995C>T
 dbSNP gnomAD v2 gnomAD v4
12g.32611240T>ACA384361170FGD4c.1295T>A (p.Leu432Gln)
c.1550T>A (p.Leu517Gln)
c.1016T>A (p.Leu339Gln)
c.107T>A (p.Leu36Gln)
n.802T>A
c.1706T>A (p.Leu569Gln)
c.*687T>A (n.*687T>A)
c.*706T>A (n.*706T>A)
c.884T>A
c.1631T>A (p.Leu544Gln)
c.*664T>A (n.*664T>A)
c.551T>A (p.Leu184Gln)
c.263T>A (p.Leu88Gln)
c.1787T>A (p.Leu596Gln)
c.1589T>A (p.Leu530Gln)
c.743T>A (p.Leu248Gln)
c.698T>A (p.Leu233Gln)
c.530T>A (p.Leu177Gln)
c.404T>A (p.Leu135Gln)
n.1996T>A
12g.32611240T>CCA384361172FGD4c.1295T>C (p.Leu432Pro)
c.1550T>C (p.Leu517Pro)
c.1016T>C (p.Leu339Pro)
c.107T>C (p.Leu36Pro)
n.802T>C
c.1706T>C (p.Leu569Pro)
c.*687T>C (n.*687T>C)
c.*706T>C (n.*706T>C)
c.884T>C
c.1631T>C (p.Leu544Pro)
c.*664T>C (n.*664T>C)
c.551T>C (p.Leu184Pro)
c.263T>C (p.Leu88Pro)
c.1787T>C (p.Leu596Pro)
c.1589T>C (p.Leu530Pro)
c.743T>C (p.Leu248Pro)
c.698T>C (p.Leu233Pro)
c.530T>C (p.Leu177Pro)
c.404T>C (p.Leu135Pro)
n.1996T>C
 gnomAD v4
12g.32611240T>GCA384361171FGD4c.1295T>G (p.Leu432Arg)
c.1550T>G (p.Leu517Arg)
c.1016T>G (p.Leu339Arg)
c.107T>G (p.Leu36Arg)
n.802T>G
c.1706T>G (p.Leu569Arg)
c.*687T>G (n.*687T>G)
c.*706T>G (n.*706T>G)
c.884T>G
c.1631T>G (p.Leu544Arg)
c.*664T>G (n.*664T>G)
c.551T>G (p.Leu184Arg)
c.263T>G (p.Leu88Arg)
c.1787T>G (p.Leu596Arg)
c.1589T>G (p.Leu530Arg)
c.743T>G (p.Leu248Arg)
c.698T>G (p.Leu233Arg)
c.530T>G (p.Leu177Arg)
c.404T>G (p.Leu135Arg)
n.1996T>G
12g.32611241A=CA2026267809FGD4c.1296A= (p.Leu432=)
c.1551A= (p.Leu517=)
c.1017A= (p.Leu339=)
c.108A= (p.Leu36=)
n.803A=
c.1707A= (p.Leu569=)
c.*688A= (n.*688A=)
c.*707A= (n.*707A=)
c.885A=
c.1632A= (p.Leu544=)
c.*665A= (n.*665A=)
c.552A= (p.Leu184=)
c.264A= (p.Leu88=)
c.1788A= (p.Leu596=)
c.1590A= (p.Leu530=)
c.744A= (p.Leu248=)
c.699A= (p.Leu233=)
c.531A= (p.Leu177=)
c.405A= (p.Leu135=)
n.1997A=
12g.32611241A>CCA479167880FGD4c.1296A>C (p.Leu432=)
c.1551A>C (p.Leu517=)
c.1017A>C (p.Leu339=)
c.108A>C (p.Leu36=)
n.803A>C
c.1707A>C (p.Leu569=)
c.*688A>C (n.*688A>C)
c.*707A>C (n.*707A>C)
c.885A>C
c.1632A>C (p.Leu544=)
c.*665A>C (n.*665A>C)
c.552A>C (p.Leu184=)
c.264A>C (p.Leu88=)
c.1788A>C (p.Leu596=)
c.1590A>C (p.Leu530=)
c.744A>C (p.Leu248=)
c.699A>C (p.Leu233=)
c.531A>C (p.Leu177=)
c.405A>C (p.Leu135=)
n.1997A>C
12g.32611241A>GCA6506858FGD4c.1296A>G (p.Leu432=)
c.1551A>G (p.Leu517=)
c.1017A>G (p.Leu339=)
c.108A>G (p.Leu36=)
n.803A>G
c.1707A>G (p.Leu569=)
c.*688A>G (n.*688A>G)
c.*707A>G (n.*707A>G)
c.885A>G
c.1632A>G (p.Leu544=)
c.*665A>G (n.*665A>G)
c.552A>G (p.Leu184=)
c.264A>G (p.Leu88=)
c.1788A>G (p.Leu596=)
c.1590A>G (p.Leu530=)
c.744A>G (p.Leu248=)
c.699A>G (p.Leu233=)
c.531A>G (p.Leu177=)
c.405A>G (p.Leu135=)
n.1997A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611241A>TCA479167879FGD4c.1296A>T (p.Leu432=)
c.1551A>T (p.Leu517=)
c.1017A>T (p.Leu339=)
c.108A>T (p.Leu36=)
n.803A>T
c.1707A>T (p.Leu569=)
c.*688A>T (n.*688A>T)
c.*707A>T (n.*707A>T)
c.885A>T
c.1632A>T (p.Leu544=)
c.*665A>T (n.*665A>T)
c.552A>T (p.Leu184=)
c.264A>T (p.Leu88=)
c.1788A>T (p.Leu596=)
c.1590A>T (p.Leu530=)
c.744A>T (p.Leu248=)
c.699A>T (p.Leu233=)
c.531A>T (p.Leu177=)
c.405A>T (p.Leu135=)
n.1997A>T
12g.32611242G>ACA384361173FGD4c.1297G>A (p.Ala433Thr)
c.1552G>A (p.Ala518Thr)
c.1018G>A (p.Ala340Thr)
c.109G>A (p.Ala37Thr)
n.804G>A
c.1708G>A (p.Ala570Thr)
c.*689G>A (n.*689G>A)
c.*708G>A (n.*708G>A)
c.886G>A
c.1633G>A (p.Ala545Thr)
c.*666G>A (n.*666G>A)
c.553G>A (p.Ala185Thr)
c.265G>A (p.Ala89Thr)
c.1789G>A (p.Ala597Thr)
c.1591G>A (p.Ala531Thr)
c.745G>A (p.Ala249Thr)
c.700G>A (p.Ala234Thr)
c.532G>A (p.Ala178Thr)
c.406G>A (p.Ala136Thr)
n.1998G>A
12g.32611242G>CCA384361174FGD4c.1297G>C (p.Ala433Pro)
c.1552G>C (p.Ala518Pro)
c.1018G>C (p.Ala340Pro)
c.109G>C (p.Ala37Pro)
n.804G>C
c.1708G>C (p.Ala570Pro)
c.*689G>C (n.*689G>C)
c.*708G>C (n.*708G>C)
c.886G>C
c.1633G>C (p.Ala545Pro)
c.*666G>C (n.*666G>C)
c.553G>C (p.Ala185Pro)
c.265G>C (p.Ala89Pro)
c.1789G>C (p.Ala597Pro)
c.1591G>C (p.Ala531Pro)
c.745G>C (p.Ala249Pro)
c.700G>C (p.Ala234Pro)
c.532G>C (p.Ala178Pro)
c.406G>C (p.Ala136Pro)
n.1998G>C
12g.32611242G>TCA384361175FGD4c.1297G>T (p.Ala433Ser)
c.1552G>T (p.Ala518Ser)
c.1018G>T (p.Ala340Ser)
c.109G>T (p.Ala37Ser)
n.804G>T
c.1708G>T (p.Ala570Ser)
c.*689G>T (n.*689G>T)
c.*708G>T (n.*708G>T)
c.886G>T
c.1633G>T (p.Ala545Ser)
c.*666G>T (n.*666G>T)
c.553G>T (p.Ala185Ser)
c.265G>T (p.Ala89Ser)
c.1789G>T (p.Ala597Ser)
c.1591G>T (p.Ala531Ser)
c.745G>T (p.Ala249Ser)
c.700G>T (p.Ala234Ser)
c.532G>T (p.Ala178Ser)
c.406G>T (p.Ala136Ser)
n.1998G>T
12g.32611243C>ACA384361178FGD4c.1298C>A (p.Ala433Asp)
c.1553C>A (p.Ala518Asp)
c.1019C>A (p.Ala340Asp)
c.110C>A (p.Ala37Asp)
n.805C>A
c.1709C>A (p.Ala570Asp)
c.*690C>A (n.*690C>A)
c.*709C>A (n.*709C>A)
c.887C>A
c.1634C>A (p.Ala545Asp)
c.*667C>A (n.*667C>A)
c.554C>A (p.Ala185Asp)
c.266C>A (p.Ala89Asp)
c.1790C>A (p.Ala597Asp)
c.1592C>A (p.Ala531Asp)
c.746C>A (p.Ala249Asp)
c.701C>A (p.Ala234Asp)
c.533C>A (p.Ala178Asp)
c.407C>A (p.Ala136Asp)
n.1999C>A
12g.32611243C>GCA384361176FGD4c.1298C>G (p.Ala433Gly)
c.1553C>G (p.Ala518Gly)
c.1019C>G (p.Ala340Gly)
c.110C>G (p.Ala37Gly)
n.805C>G
c.1709C>G (p.Ala570Gly)
c.*690C>G (n.*690C>G)
c.*709C>G (n.*709C>G)
c.887C>G
c.1634C>G (p.Ala545Gly)
c.*667C>G (n.*667C>G)
c.554C>G (p.Ala185Gly)
c.266C>G (p.Ala89Gly)
c.1790C>G (p.Ala597Gly)
c.1592C>G (p.Ala531Gly)
c.746C>G (p.Ala249Gly)
c.701C>G (p.Ala234Gly)
c.533C>G (p.Ala178Gly)
c.407C>G (p.Ala136Gly)
n.1999C>G
12g.32611243C>TCA384361177FGD4c.1298C>T (p.Ala433Val)
c.1553C>T (p.Ala518Val)
c.1019C>T (p.Ala340Val)
c.110C>T (p.Ala37Val)
n.805C>T
c.1709C>T (p.Ala570Val)
c.*690C>T (n.*690C>T)
c.*709C>T (n.*709C>T)
c.887C>T
c.1634C>T (p.Ala545Val)
c.*667C>T (n.*667C>T)
c.554C>T (p.Ala185Val)
c.266C>T (p.Ala89Val)
c.1790C>T (p.Ala597Val)
c.1592C>T (p.Ala531Val)
c.746C>T (p.Ala249Val)
c.701C>T (p.Ala234Val)
c.533C>T (p.Ala178Val)
c.407C>T (p.Ala136Val)
n.1999C>T
12g.32611244T>ACA479167881FGD4c.1299T>A (p.Ala433=)
c.1554T>A (p.Ala518=)
c.1020T>A (p.Ala340=)
c.111T>A (p.Ala37=)
n.806T>A
c.1710T>A (p.Ala570=)
c.*691T>A (n.*691T>A)
c.*710T>A (n.*710T>A)
c.888T>A
c.1635T>A (p.Ala545=)
c.*668T>A (n.*668T>A)
c.555T>A (p.Ala185=)
c.267T>A (p.Ala89=)
c.1791T>A (p.Ala597=)
c.1593T>A (p.Ala531=)
c.747T>A (p.Ala249=)
c.702T>A (p.Ala234=)
c.534T>A (p.Ala178=)
c.408T>A (p.Ala136=)
n.2000T>A
12g.32611244T>CCA479167882FGD4c.1299T>C (p.Ala433=)
c.1554T>C (p.Ala518=)
c.1020T>C (p.Ala340=)
c.111T>C (p.Ala37=)
n.806T>C
c.1710T>C (p.Ala570=)
c.*691T>C (n.*691T>C)
c.*710T>C (n.*710T>C)
c.888T>C
c.1635T>C (p.Ala545=)
c.*668T>C (n.*668T>C)
c.555T>C (p.Ala185=)
c.267T>C (p.Ala89=)
c.1791T>C (p.Ala597=)
c.1593T>C (p.Ala531=)
c.747T>C (p.Ala249=)
c.702T>C (p.Ala234=)
c.534T>C (p.Ala178=)
c.408T>C (p.Ala136=)
n.2000T>C
 dbSNP
12g.32611244T>GCA479167883FGD4c.1299T>G (p.Ala433=)
c.1554T>G (p.Ala518=)
c.1020T>G (p.Ala340=)
c.111T>G (p.Ala37=)
n.806T>G
c.1710T>G (p.Ala570=)
c.*691T>G (n.*691T>G)
c.*710T>G (n.*710T>G)
c.888T>G
c.1635T>G (p.Ala545=)
c.*668T>G (n.*668T>G)
c.555T>G (p.Ala185=)
c.267T>G (p.Ala89=)
c.1791T>G (p.Ala597=)
c.1593T>G (p.Ala531=)
c.747T>G (p.Ala249=)
c.702T>G (p.Ala234=)
c.534T>G (p.Ala178=)
c.408T>G (p.Ala136=)
n.2000T>G
12g.32611244T=CA2026267810FGD4c.1299T= (p.Ala433=)
c.1554T= (p.Ala518=)
c.1020T= (p.Ala340=)
c.111T= (p.Ala37=)
n.806T=
c.1710T= (p.Ala570=)
c.*691T= (n.*691T=)
c.*710T= (n.*710T=)
c.888T=
c.1635T= (p.Ala545=)
c.*668T= (n.*668T=)
c.555T= (p.Ala185=)
c.267T= (p.Ala89=)
c.1791T= (p.Ala597=)
c.1593T= (p.Ala531=)
c.747T= (p.Ala249=)
c.702T= (p.Ala234=)
c.534T= (p.Ala178=)
c.408T= (p.Ala136=)
n.2000T=
12g.32611245G>ACA384361179FGD4c.1300G>A (p.Ala434Thr)
c.1555G>A (p.Ala519Thr)
c.1021G>A (p.Ala341Thr)
c.112G>A (p.Ala38Thr)
n.807G>A
c.1711G>A (p.Ala571Thr)
c.*692G>A (n.*692G>A)
c.*711G>A (n.*711G>A)
c.889G>A
c.1636G>A (p.Ala546Thr)
c.*669G>A (n.*669G>A)
c.556G>A (p.Ala186Thr)
c.268G>A (p.Ala90Thr)
c.1792G>A (p.Ala598Thr)
c.1594G>A (p.Ala532Thr)
c.748G>A (p.Ala250Thr)
c.703G>A (p.Ala235Thr)
c.535G>A (p.Ala179Thr)
c.409G>A (p.Ala137Thr)
n.2001G>A
12g.32611245G>CCA384361180FGD4c.1300G>C (p.Ala434Pro)
c.1555G>C (p.Ala519Pro)
c.1021G>C (p.Ala341Pro)
c.112G>C (p.Ala38Pro)
n.807G>C
c.1711G>C (p.Ala571Pro)
c.*692G>C (n.*692G>C)
c.*711G>C (n.*711G>C)
c.889G>C
c.1636G>C (p.Ala546Pro)
c.*669G>C (n.*669G>C)
c.556G>C (p.Ala186Pro)
c.268G>C (p.Ala90Pro)
c.1792G>C (p.Ala598Pro)
c.1594G>C (p.Ala532Pro)
c.748G>C (p.Ala250Pro)
c.703G>C (p.Ala235Pro)
c.535G>C (p.Ala179Pro)
c.409G>C (p.Ala137Pro)
n.2001G>C
 gnomAD v4
12g.32611245G>TCA384361181FGD4c.1300G>T (p.Ala434Ser)
c.1555G>T (p.Ala519Ser)
c.1021G>T (p.Ala341Ser)
c.112G>T (p.Ala38Ser)
n.807G>T
c.1711G>T (p.Ala571Ser)
c.*692G>T (n.*692G>T)
c.*711G>T (n.*711G>T)
c.889G>T
c.1636G>T (p.Ala546Ser)
c.*669G>T (n.*669G>T)
c.556G>T (p.Ala186Ser)
c.268G>T (p.Ala90Ser)
c.1792G>T (p.Ala598Ser)
c.1594G>T (p.Ala532Ser)
c.748G>T (p.Ala250Ser)
c.703G>T (p.Ala235Ser)
c.535G>T (p.Ala179Ser)
c.409G>T (p.Ala137Ser)
n.2001G>T
12g.32611246C>ACA384361182FGD4c.1301C>A (p.Ala434Asp)
c.1556C>A (p.Ala519Asp)
c.1022C>A (p.Ala341Asp)
c.113C>A (p.Ala38Asp)
n.808C>A
c.1712C>A (p.Ala571Asp)
c.*693C>A (n.*693C>A)
c.*712C>A (n.*712C>A)
c.890C>A
c.1637C>A (p.Ala546Asp)
c.*670C>A (n.*670C>A)
c.557C>A (p.Ala186Asp)
c.269C>A (p.Ala90Asp)
c.1793C>A (p.Ala598Asp)
c.1595C>A (p.Ala532Asp)
c.749C>A (p.Ala250Asp)
c.704C>A (p.Ala235Asp)
c.536C>A (p.Ala179Asp)
c.410C>A (p.Ala137Asp)
n.2002C>A
12g.32611246C=CA2026267811FGD4c.1301C= (p.Ala434=)
c.1556C= (p.Ala519=)
c.1022C= (p.Ala341=)
c.113C= (p.Ala38=)
n.808C=
c.1712C= (p.Ala571=)
c.*693C= (n.*693C=)
c.*712C= (n.*712C=)
c.890C=
c.1637C= (p.Ala546=)
c.*670C= (n.*670C=)
c.557C= (p.Ala186=)
c.269C= (p.Ala90=)
c.1793C= (p.Ala598=)
c.1595C= (p.Ala532=)
c.749C= (p.Ala250=)
c.704C= (p.Ala235=)
c.536C= (p.Ala179=)
c.410C= (p.Ala137=)
n.2002C=
12g.32611246C>GCA384361183FGD4c.1301C>G (p.Ala434Gly)
c.1556C>G (p.Ala519Gly)
c.1022C>G (p.Ala341Gly)
c.113C>G (p.Ala38Gly)
n.808C>G
c.1712C>G (p.Ala571Gly)
c.*693C>G (n.*693C>G)
c.*712C>G (n.*712C>G)
c.890C>G
c.1637C>G (p.Ala546Gly)
c.*670C>G (n.*670C>G)
c.557C>G (p.Ala186Gly)
c.269C>G (p.Ala90Gly)
c.1793C>G (p.Ala598Gly)
c.1595C>G (p.Ala532Gly)
c.749C>G (p.Ala250Gly)
c.704C>G (p.Ala235Gly)
c.536C>G (p.Ala179Gly)
c.410C>G (p.Ala137Gly)
n.2002C>G
 dbSNP
12g.32611246C>TCA384361184FGD4c.1301C>T (p.Ala434Val)
c.1556C>T (p.Ala519Val)
c.1022C>T (p.Ala341Val)
c.113C>T (p.Ala38Val)
n.808C>T
c.1712C>T (p.Ala571Val)
c.*693C>T (n.*693C>T)
c.*712C>T (n.*712C>T)
c.890C>T
c.1637C>T (p.Ala546Val)
c.*670C>T (n.*670C>T)
c.557C>T (p.Ala186Val)
c.269C>T (p.Ala90Val)
c.1793C>T (p.Ala598Val)
c.1595C>T (p.Ala532Val)
c.749C>T (p.Ala250Val)
c.704C>T (p.Ala235Val)
c.536C>T (p.Ala179Val)
c.410C>T (p.Ala137Val)
n.2002C>T
12g.32611247T>ACA479167884FGD4c.1302T>A (p.Ala434=)
c.1557T>A (p.Ala519=)
c.1023T>A (p.Ala341=)
c.114T>A (p.Ala38=)
n.809T>A
c.1713T>A (p.Ala571=)
c.*694T>A (n.*694T>A)
c.*713T>A (n.*713T>A)
c.891T>A
c.1638T>A (p.Ala546=)
c.*671T>A (n.*671T>A)
c.558T>A (p.Ala186=)
c.270T>A (p.Ala90=)
c.1794T>A (p.Ala598=)
c.1596T>A (p.Ala532=)
c.750T>A (p.Ala250=)
c.705T>A (p.Ala235=)
c.537T>A (p.Ala179=)
c.411T>A (p.Ala137=)
n.2003T>A
12g.32611247T>CCA479167885FGD4c.1302T>C (p.Ala434=)
c.1557T>C (p.Ala519=)
c.1023T>C (p.Ala341=)
c.114T>C (p.Ala38=)
n.809T>C
c.1713T>C (p.Ala571=)
c.*694T>C (n.*694T>C)
c.*713T>C (n.*713T>C)
c.891T>C
c.1638T>C (p.Ala546=)
c.*671T>C (n.*671T>C)
c.558T>C (p.Ala186=)
c.270T>C (p.Ala90=)
c.1794T>C (p.Ala598=)
c.1596T>C (p.Ala532=)
c.750T>C (p.Ala250=)
c.705T>C (p.Ala235=)
c.537T>C (p.Ala179=)
c.411T>C (p.Ala137=)
n.2003T>C
12g.32611247T>GCA479167886FGD4c.1302T>G (p.Ala434=)
c.1557T>G (p.Ala519=)
c.1023T>G (p.Ala341=)
c.114T>G (p.Ala38=)
n.809T>G
c.1713T>G (p.Ala571=)
c.*694T>G (n.*694T>G)
c.*713T>G (n.*713T>G)
c.891T>G
c.1638T>G (p.Ala546=)
c.*671T>G (n.*671T>G)
c.558T>G (p.Ala186=)
c.270T>G (p.Ala90=)
c.1794T>G (p.Ala598=)
c.1596T>G (p.Ala532=)
c.750T>G (p.Ala250=)
c.705T>G (p.Ala235=)
c.537T>G (p.Ala179=)
c.411T>G (p.Ala137=)
n.2003T>G
 gnomAD v3 gnomAD v4
12g.32611248C>ACA479167887FGD4c.1303C>A (p.Arg435=)
c.1558C>A (p.Arg520=)
c.1024C>A (p.Arg342=)
c.115C>A (p.Arg39=)
n.810C>A
c.1714C>A (p.Arg572=)
c.*695C>A (n.*695C>A)
c.*714C>A (n.*714C>A)
c.892C>A
c.1639C>A (p.Arg547=)
c.*672C>A (n.*672C>A)
c.559C>A (p.Arg187=)
c.271C>A (p.Arg91=)
c.1795C>A (p.Arg599=)
c.1597C>A (p.Arg533=)
c.751C>A (p.Arg251=)
c.706C>A (p.Arg236=)
c.538C>A (p.Arg180=)
c.412C>A (p.Arg138=)
n.2004C>A
 gnomAD v4
12g.32611248C=CA2026267812FGD4c.1303C= (p.Arg435=)
c.1558C= (p.Arg520=)
c.1024C= (p.Arg342=)
c.115C= (p.Arg39=)
n.810C=
c.1714C= (p.Arg572=)
c.*695C= (n.*695C=)
c.*714C= (n.*714C=)
c.892C=
c.1639C= (p.Arg547=)
c.*672C= (n.*672C=)
c.559C= (p.Arg187=)
c.271C= (p.Arg91=)
c.1795C= (p.Arg599=)
c.1597C= (p.Arg533=)
c.751C= (p.Arg251=)
c.706C= (p.Arg236=)
c.538C= (p.Arg180=)
c.412C= (p.Arg138=)
n.2004C=
12g.32611248C>GCA384361185FGD4c.1303C>G (p.Arg435Gly)
c.1558C>G (p.Arg520Gly)
c.1024C>G (p.Arg342Gly)
c.115C>G (p.Arg39Gly)
n.810C>G
c.1714C>G (p.Arg572Gly)
c.*695C>G (n.*695C>G)
c.*714C>G (n.*714C>G)
c.892C>G
c.1639C>G (p.Arg547Gly)
c.*672C>G (n.*672C>G)
c.559C>G (p.Arg187Gly)
c.271C>G (p.Arg91Gly)
c.1795C>G (p.Arg599Gly)
c.1597C>G (p.Arg533Gly)
c.751C>G (p.Arg251Gly)
c.706C>G (p.Arg236Gly)
c.538C>G (p.Arg180Gly)
c.412C>G (p.Arg138Gly)
n.2004C>G
12g.32611248C>TCA235216113FGD4c.1303C>T (p.Arg435Trp)
c.1558C>T (p.Arg520Trp)
c.1024C>T (p.Arg342Trp)
c.115C>T (p.Arg39Trp)
n.810C>T
c.1714C>T (p.Arg572Trp)
c.*695C>T (n.*695C>T)
c.*714C>T (n.*714C>T)
c.892C>T
c.1639C>T (p.Arg547Trp)
c.*672C>T (n.*672C>T)
c.559C>T (p.Arg187Trp)
c.271C>T (p.Arg91Trp)
c.1795C>T (p.Arg599Trp)
c.1597C>T (p.Arg533Trp)
c.751C>T (p.Arg251Trp)
c.706C>T (p.Arg236Trp)
c.538C>T (p.Arg180Trp)
c.412C>T (p.Arg138Trp)
n.2004C>T
 dbSNP gnomAD v4 COSMIC
12g.32611249G>ACA6506859FGD4c.1304G>A (p.Arg435Gln)
c.1559G>A (p.Arg520Gln)
c.1025G>A (p.Arg342Gln)
c.116G>A (p.Arg39Gln)
n.811G>A
c.1715G>A (p.Arg572Gln)
c.*696G>A (n.*696G>A)
c.*715G>A (n.*715G>A)
c.893G>A
c.1640G>A (p.Arg547Gln)
c.*673G>A (n.*673G>A)
c.560G>A (p.Arg187Gln)
c.272G>A (p.Arg91Gln)
c.1796G>A (p.Arg599Gln)
c.1598G>A (p.Arg533Gln)
c.752G>A (p.Arg251Gln)
c.707G>A (p.Arg236Gln)
c.539G>A (p.Arg180Gln)
c.413G>A (p.Arg138Gln)
n.2005G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.32611249G>CCA384361186FGD4c.1304G>C (p.Arg435Pro)
c.1559G>C (p.Arg520Pro)
c.1025G>C (p.Arg342Pro)
c.116G>C (p.Arg39Pro)
n.811G>C
c.1715G>C (p.Arg572Pro)
c.*696G>C (n.*696G>C)
c.*715G>C (n.*715G>C)
c.893G>C
c.1640G>C (p.Arg547Pro)
c.*673G>C (n.*673G>C)
c.560G>C (p.Arg187Pro)
c.272G>C (p.Arg91Pro)
c.1796G>C (p.Arg599Pro)
c.1598G>C (p.Arg533Pro)
c.752G>C (p.Arg251Pro)
c.707G>C (p.Arg236Pro)
c.539G>C (p.Arg180Pro)
c.413G>C (p.Arg138Pro)
n.2005G>C
12g.32611249G=CA2026267813FGD4c.1304G= (p.Arg435=)
c.1559G= (p.Arg520=)
c.1025G= (p.Arg342=)
c.116G= (p.Arg39=)
n.811G=
c.1715G= (p.Arg572=)
c.*696G= (n.*696G=)
c.*715G= (n.*715G=)
c.893G=
c.1640G= (p.Arg547=)
c.*673G= (n.*673G=)
c.560G= (p.Arg187=)
c.272G= (p.Arg91=)
c.1796G= (p.Arg599=)
c.1598G= (p.Arg533=)
c.752G= (p.Arg251=)
c.707G= (p.Arg236=)
c.539G= (p.Arg180=)
c.413G= (p.Arg138=)
n.2005G=
12g.32611249G>TCA384361187FGD4c.1304G>T (p.Arg435Leu)
c.1559G>T (p.Arg520Leu)
c.1025G>T (p.Arg342Leu)
c.116G>T (p.Arg39Leu)
n.811G>T
c.1715G>T (p.Arg572Leu)
c.*696G>T (n.*696G>T)
c.*715G>T (n.*715G>T)
c.893G>T
c.1640G>T (p.Arg547Leu)
c.*673G>T (n.*673G>T)
c.560G>T (p.Arg187Leu)
c.272G>T (p.Arg91Leu)
c.1796G>T (p.Arg599Leu)
c.1598G>T (p.Arg533Leu)
c.752G>T (p.Arg251Leu)
c.707G>T (p.Arg236Leu)
c.539G>T (p.Arg180Leu)
c.413G>T (p.Arg138Leu)
n.2005G>T
12g.32611249_32611250delinsAACA2695216222FGD4c.1304_1305delinsAA (p.Arg435Gln)
c.1559_1560delinsAA (p.Arg520Gln)
c.1025_1026delinsAA (p.Arg342Gln)
c.116_117delinsAA (p.Arg39Gln)
n.811_812delinsAA
c.1715_1716delinsAA (p.Arg572Gln)
c.*696_*697delinsAA (n.*696_*697delinsAA)
c.*715_*716delinsAA (n.*715_*716delinsAA)
c.893_894delinsAA
c.1640_1641delinsAA (p.Arg547Gln)
c.*673_*674delinsAA (n.*673_*674delinsAA)
c.560_561delinsAA (p.Arg187Gln)
c.272_273delinsAA (p.Arg91Gln)
c.1796_1797delinsAA (p.Arg599Gln)
c.1598_1599delinsAA (p.Arg533Gln)
c.752_753delinsAA (p.Arg251Gln)
c.707_708delinsAA (p.Arg236Gln)
c.539_540delinsAA (p.Arg180Gln)
c.413_414delinsAA (p.Arg138Gln)
n.2005_2006delinsAA
12g.32611250G>ACA290926FGD4c.1305G>A (p.Arg435=)
c.1560G>A (p.Arg520=)
c.1026G>A (p.Arg342=)
c.117G>A (p.Arg39=)
n.812G>A
c.1716G>A (p.Arg572=)
c.*697G>A (n.*697G>A)
c.*716G>A (n.*716G>A)
c.894G>A
c.1641G>A (p.Arg547=)
c.*674G>A (n.*674G>A)
c.561G>A (p.Arg187=)
c.273G>A (p.Arg91=)
c.1797G>A (p.Arg599=)
c.1599G>A (p.Arg533=)
c.753G>A (p.Arg251=)
c.708G>A (p.Arg236=)
c.540G>A (p.Arg180=)
c.414G>A (p.Arg138=)
n.2006G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.32611250G>CCA479167888FGD4c.1305G>C (p.Arg435=)
c.1560G>C (p.Arg520=)
c.1026G>C (p.Arg342=)
c.117G>C (p.Arg39=)
n.812G>C
c.1716G>C (p.Arg572=)
c.*697G>C (n.*697G>C)
c.*716G>C (n.*716G>C)
c.894G>C
c.1641G>C (p.Arg547=)
c.*674G>C (n.*674G>C)
c.561G>C (p.Arg187=)
c.273G>C (p.Arg91=)
c.1797G>C (p.Arg599=)
c.1599G>C (p.Arg533=)
c.753G>C (p.Arg251=)
c.708G>C (p.Arg236=)
c.540G>C (p.Arg180=)
c.414G>C (p.Arg138=)
n.2006G>C
12g.32611250G=CA2026267814FGD4c.1305G= (p.Arg435=)
c.1560G= (p.Arg520=)
c.1026G= (p.Arg342=)
c.117G= (p.Arg39=)
n.812G=
c.1716G= (p.Arg572=)
c.*697G= (n.*697G=)
c.*716G= (n.*716G=)
c.894G=
c.1641G= (p.Arg547=)
c.*674G= (n.*674G=)
c.561G= (p.Arg187=)
c.273G= (p.Arg91=)
c.1797G= (p.Arg599=)
c.1599G= (p.Arg533=)
c.753G= (p.Arg251=)
c.708G= (p.Arg236=)
c.540G= (p.Arg180=)
c.414G= (p.Arg138=)
n.2006G=
12g.32611250G>TCA479167889FGD4c.1305G>T (p.Arg435=)
c.1560G>T (p.Arg520=)
c.1026G>T (p.Arg342=)
c.117G>T (p.Arg39=)
n.812G>T
c.1716G>T (p.Arg572=)
c.*697G>T (n.*697G>T)
c.*716G>T (n.*716G>T)
c.894G>T
c.1641G>T (p.Arg547=)
c.*674G>T (n.*674G>T)
c.561G>T (p.Arg187=)
c.273G>T (p.Arg91=)
c.1797G>T (p.Arg599=)
c.1599G>T (p.Arg533=)
c.753G>T (p.Arg251=)
c.708G>T (p.Arg236=)
c.540G>T (p.Arg180=)
c.414G>T (p.Arg138=)
n.2006G>T
12g.32611251A=CA2026267815FGD4c.1306A= (p.Asn436=)
c.1561A= (p.Asn521=)
c.1027A= (p.Asn343=)
c.118A= (p.Asn40=)
n.813A=
c.1717A= (p.Asn573=)
c.*698A= (n.*698A=)
c.*717A= (n.*717A=)
c.895A=
c.1642A= (p.Asn548=)
c.*675A= (n.*675A=)
c.562A= (p.Asn188=)
c.274A= (p.Asn92=)
c.1798A= (p.Asn600=)
c.1600A= (p.Asn534=)
c.754A= (p.Asn252=)
c.709A= (p.Asn237=)
c.541A= (p.Asn181=)
c.415A= (p.Asn139=)
n.2007A=
12g.32611251A>CCA384361188FGD4c.1306A>C (p.Asn436His)
c.1561A>C (p.Asn521His)
c.1027A>C (p.Asn343His)
c.118A>C (p.Asn40His)
n.813A>C
c.1717A>C (p.Asn573His)
c.*698A>C (n.*698A>C)
c.*717A>C (n.*717A>C)
c.895A>C
c.1642A>C (p.Asn548His)
c.*675A>C (n.*675A>C)
c.562A>C (p.Asn188His)
c.274A>C (p.Asn92His)
c.1798A>C (p.Asn600His)
c.1600A>C (p.Asn534His)
c.754A>C (p.Asn252His)
c.709A>C (p.Asn237His)
c.541A>C (p.Asn181His)
c.415A>C (p.Asn139His)
n.2007A>C
12g.32611251A>GCA384361190FGD4c.1306A>G (p.Asn436Asp)
c.1561A>G (p.Asn521Asp)
c.1027A>G (p.Asn343Asp)
c.118A>G (p.Asn40Asp)
n.813A>G
c.1717A>G (p.Asn573Asp)
c.*698A>G (n.*698A>G)
c.*717A>G (n.*717A>G)
c.895A>G
c.1642A>G (p.Asn548Asp)
c.*675A>G (n.*675A>G)
c.562A>G (p.Asn188Asp)
c.274A>G (p.Asn92Asp)
c.1798A>G (p.Asn600Asp)
c.1600A>G (p.Asn534Asp)
c.754A>G (p.Asn252Asp)
c.709A>G (p.Asn237Asp)
c.541A>G (p.Asn181Asp)
c.415A>G (p.Asn139Asp)
n.2007A>G
 dbSNP
12g.32611251A>TCA384361189FGD4c.1306A>T (p.Asn436Tyr)
c.1561A>T (p.Asn521Tyr)
c.1027A>T (p.Asn343Tyr)
c.118A>T (p.Asn40Tyr)
n.813A>T
c.1717A>T (p.Asn573Tyr)
c.*698A>T (n.*698A>T)
c.*717A>T (n.*717A>T)
c.895A>T
c.1642A>T (p.Asn548Tyr)
c.*675A>T (n.*675A>T)
c.562A>T (p.Asn188Tyr)
c.274A>T (p.Asn92Tyr)
c.1798A>T (p.Asn600Tyr)
c.1600A>T (p.Asn534Tyr)
c.754A>T (p.Asn252Tyr)
c.709A>T (p.Asn237Tyr)
c.541A>T (p.Asn181Tyr)
c.415A>T (p.Asn139Tyr)
n.2007A>T
12g.32611252A>CCA384361191FGD4c.1307A>C (p.Asn436Thr)
c.1562A>C (p.Asn521Thr)
c.1028A>C (p.Asn343Thr)
c.119A>C (p.Asn40Thr)
n.814A>C
c.1718A>C (p.Asn573Thr)
c.*699A>C (n.*699A>C)
c.*718A>C (n.*718A>C)
c.896A>C
c.1643A>C (p.Asn548Thr)
c.*676A>C (n.*676A>C)
c.563A>C (p.Asn188Thr)
c.275A>C (p.Asn92Thr)
c.1799A>C (p.Asn600Thr)
c.1601A>C (p.Asn534Thr)
c.755A>C (p.Asn252Thr)
c.710A>C (p.Asn237Thr)
c.542A>C (p.Asn181Thr)
c.416A>C (p.Asn139Thr)
n.2008A>C
 gnomAD v4
12g.32611252A>GCA384361193FGD4c.1307A>G (p.Asn436Ser)
c.1562A>G (p.Asn521Ser)
c.1028A>G (p.Asn343Ser)
c.119A>G (p.Asn40Ser)
n.814A>G
c.1718A>G (p.Asn573Ser)
c.*699A>G (n.*699A>G)
c.*718A>G (n.*718A>G)
c.896A>G
c.1643A>G (p.Asn548Ser)
c.*676A>G (n.*676A>G)
c.563A>G (p.Asn188Ser)
c.275A>G (p.Asn92Ser)
c.1799A>G (p.Asn600Ser)
c.1601A>G (p.Asn534Ser)
c.755A>G (p.Asn252Ser)
c.710A>G (p.Asn237Ser)
c.542A>G (p.Asn181Ser)
c.416A>G (p.Asn139Ser)
n.2008A>G
12g.32611252A>TCA384361192FGD4c.1307A>T (p.Asn436Ile)
c.1562A>T (p.Asn521Ile)
c.1028A>T (p.Asn343Ile)
c.119A>T (p.Asn40Ile)
n.814A>T
c.1718A>T (p.Asn573Ile)
c.*699A>T (n.*699A>T)
c.*718A>T (n.*718A>T)
c.896A>T
c.1643A>T (p.Asn548Ile)
c.*676A>T (n.*676A>T)
c.563A>T (p.Asn188Ile)
c.275A>T (p.Asn92Ile)
c.1799A>T (p.Asn600Ile)
c.1601A>T (p.Asn534Ile)
c.755A>T (p.Asn252Ile)
c.710A>T (p.Asn237Ile)
c.542A>T (p.Asn181Ile)
c.416A>T (p.Asn139Ile)
n.2008A>T
12g.32611253C>ACA384361194FGD4c.1308C>A (p.Asn436Lys)
c.1563C>A (p.Asn521Lys)
c.1029C>A (p.Asn343Lys)
c.120C>A (p.Asn40Lys)
n.815C>A
c.1719C>A (p.Asn573Lys)
c.*700C>A (n.*700C>A)
c.*719C>A (n.*719C>A)
c.897C>A
c.1644C>A (p.Asn548Lys)
c.*677C>A (n.*677C>A)
c.564C>A (p.Asn188Lys)
c.276C>A (p.Asn92Lys)
c.1800C>A (p.Asn600Lys)
c.1602C>A (p.Asn534Lys)
c.756C>A (p.Asn252Lys)
c.711C>A (p.Asn237Lys)
c.543C>A (p.Asn181Lys)
c.417C>A (p.Asn139Lys)
n.2009C>A
12g.32611253C=CA2026267816FGD4c.1308C= (p.Asn436=)
c.1563C= (p.Asn521=)
c.1029C= (p.Asn343=)
c.120C= (p.Asn40=)
n.815C=
c.1719C= (p.Asn573=)
c.*700C= (n.*700C=)
c.*719C= (n.*719C=)
c.897C=
c.1644C= (p.Asn548=)
c.*677C= (n.*677C=)
c.564C= (p.Asn188=)
c.276C= (p.Asn92=)
c.1800C= (p.Asn600=)
c.1602C= (p.Asn534=)
c.756C= (p.Asn252=)
c.711C= (p.Asn237=)
c.543C= (p.Asn181=)
c.417C= (p.Asn139=)
n.2009C=
12g.32611253C>GCA384361195FGD4c.1308C>G (p.Asn436Lys)
c.1563C>G (p.Asn521Lys)
c.1029C>G (p.Asn343Lys)
c.120C>G (p.Asn40Lys)
n.815C>G
c.1719C>G (p.Asn573Lys)
c.*700C>G (n.*700C>G)
c.*719C>G (n.*719C>G)
c.897C>G
c.1644C>G (p.Asn548Lys)
c.*677C>G (n.*677C>G)
c.564C>G (p.Asn188Lys)
c.276C>G (p.Asn92Lys)
c.1800C>G (p.Asn600Lys)
c.1602C>G (p.Asn534Lys)
c.756C>G (p.Asn252Lys)
c.711C>G (p.Asn237Lys)
c.543C>G (p.Asn181Lys)
c.417C>G (p.Asn139Lys)
n.2009C>G
12g.32611253C>TCA479167890FGD4c.1308C>T (p.Asn436=)
c.1563C>T (p.Asn521=)
c.1029C>T (p.Asn343=)
c.120C>T (p.Asn40=)
n.815C>T
c.1719C>T (p.Asn573=)
c.*700C>T (n.*700C>T)
c.*719C>T (n.*719C>T)
c.897C>T
c.1644C>T (p.Asn548=)
c.*677C>T (n.*677C>T)
c.564C>T (p.Asn188=)
c.276C>T (p.Asn92=)
c.1800C>T (p.Asn600=)
c.1602C>T (p.Asn534=)
c.756C>T (p.Asn252=)
c.711C>T (p.Asn237=)
c.543C>T (p.Asn181=)
c.417C>T (p.Asn139=)
n.2009C>T
 dbSNP gnomAD v2
12g.32611254A>CCA384361196FGD4c.1309A>C (p.Thr437Pro)
c.1564A>C (p.Thr522Pro)
c.1030A>C (p.Thr344Pro)
c.121A>C (p.Thr41Pro)
n.816A>C
c.1720A>C (p.Thr574Pro)
c.*701A>C (n.*701A>C)
c.*720A>C (n.*720A>C)
c.898A>C
c.1645A>C (p.Thr549Pro)
c.*678A>C (n.*678A>C)
c.565A>C (p.Thr189Pro)
c.277A>C (p.Thr93Pro)
c.1801A>C (p.Thr601Pro)
c.1603A>C (p.Thr535Pro)
c.757A>C (p.Thr253Pro)
c.712A>C (p.Thr238Pro)
c.544A>C (p.Thr182Pro)
c.418A>C (p.Thr140Pro)
n.2010A>C
12g.32611254A>GCA384361197FGD4c.1309A>G (p.Thr437Ala)
c.1564A>G (p.Thr522Ala)
c.1030A>G (p.Thr344Ala)
c.121A>G (p.Thr41Ala)
n.816A>G
c.1720A>G (p.Thr574Ala)
c.*701A>G (n.*701A>G)
c.*720A>G (n.*720A>G)
c.898A>G
c.1645A>G (p.Thr549Ala)
c.*678A>G (n.*678A>G)
c.565A>G (p.Thr189Ala)
c.277A>G (p.Thr93Ala)
c.1801A>G (p.Thr601Ala)
c.1603A>G (p.Thr535Ala)
c.757A>G (p.Thr253Ala)
c.712A>G (p.Thr238Ala)
c.544A>G (p.Thr182Ala)
c.418A>G (p.Thr140Ala)
n.2010A>G
12g.32611254A>TCA384361198FGD4c.1309A>T (p.Thr437Ser)
c.1564A>T (p.Thr522Ser)
c.1030A>T (p.Thr344Ser)
c.121A>T (p.Thr41Ser)
n.816A>T
c.1720A>T (p.Thr574Ser)
c.*701A>T (n.*701A>T)
c.*720A>T (n.*720A>T)
c.898A>T
c.1645A>T (p.Thr549Ser)
c.*678A>T (n.*678A>T)
c.565A>T (p.Thr189Ser)
c.277A>T (p.Thr93Ser)
c.1801A>T (p.Thr601Ser)
c.1603A>T (p.Thr535Ser)
c.757A>T (p.Thr253Ser)
c.712A>T (p.Thr238Ser)
c.544A>T (p.Thr182Ser)
c.418A>T (p.Thr140Ser)
n.2010A>T
12g.32611255C>ACA384361199FGD4c.1310C>A (p.Thr437Asn)
c.1565C>A (p.Thr522Asn)
c.1031C>A (p.Thr344Asn)
c.122C>A (p.Thr41Asn)
n.817C>A
c.1721C>A (p.Thr574Asn)
c.*702C>A (n.*702C>A)
c.*721C>A (n.*721C>A)
c.899C>A
c.1646C>A (p.Thr549Asn)
c.*679C>A (n.*679C>A)
c.566C>A (p.Thr189Asn)
c.278C>A (p.Thr93Asn)
c.1802C>A (p.Thr601Asn)
c.1604C>A (p.Thr535Asn)
c.758C>A (p.Thr253Asn)
c.713C>A (p.Thr238Asn)
c.545C>A (p.Thr182Asn)
c.419C>A (p.Thr140Asn)
n.2011C>A
12g.32611255C>GCA384361200FGD4c.1310C>G (p.Thr437Ser)
c.1565C>G (p.Thr522Ser)
c.1031C>G (p.Thr344Ser)
c.122C>G (p.Thr41Ser)
n.817C>G
c.1721C>G (p.Thr574Ser)
c.*702C>G (n.*702C>G)
c.*721C>G (n.*721C>G)
c.899C>G
c.1646C>G (p.Thr549Ser)
c.*679C>G (n.*679C>G)
c.566C>G (p.Thr189Ser)
c.278C>G (p.Thr93Ser)
c.1802C>G (p.Thr601Ser)
c.1604C>G (p.Thr535Ser)
c.758C>G (p.Thr253Ser)
c.713C>G (p.Thr238Ser)
c.545C>G (p.Thr182Ser)
c.419C>G (p.Thr140Ser)
n.2011C>G
 gnomAD v4
12g.32611255C>TCA384361201FGD4c.1310C>T (p.Thr437Ile)
c.1565C>T (p.Thr522Ile)
c.1031C>T (p.Thr344Ile)
c.122C>T (p.Thr41Ile)
n.817C>T
c.1721C>T (p.Thr574Ile)
c.*702C>T (n.*702C>T)
c.*721C>T (n.*721C>T)
c.899C>T
c.1646C>T (p.Thr549Ile)
c.*679C>T (n.*679C>T)
c.566C>T (p.Thr189Ile)
c.278C>T (p.Thr93Ile)
c.1802C>T (p.Thr601Ile)
c.1604C>T (p.Thr535Ile)
c.758C>T (p.Thr253Ile)
c.713C>T (p.Thr238Ile)
c.545C>T (p.Thr182Ile)
c.419C>T (p.Thr140Ile)
n.2011C>T
12g.32611256T>ACA479167893FGD4c.1311T>A (p.Thr437=)
c.1566T>A (p.Thr522=)
c.1032T>A (p.Thr344=)
c.123T>A (p.Thr41=)
n.818T>A
c.1722T>A (p.Thr574=)
c.*703T>A (n.*703T>A)
c.*722T>A (n.*722T>A)
c.900T>A
c.1647T>A (p.Thr549=)
c.*680T>A (n.*680T>A)
c.567T>A (p.Thr189=)
c.279T>A (p.Thr93=)
c.1803T>A (p.Thr601=)
c.1605T>A (p.Thr535=)
c.759T>A (p.Thr253=)
c.714T>A (p.Thr238=)
c.546T>A (p.Thr182=)
c.420T>A (p.Thr140=)
n.2012T>A
12g.32611256T>CCA479167892FGD4c.1311T>C (p.Thr437=)
c.1566T>C (p.Thr522=)
c.1032T>C (p.Thr344=)
c.123T>C (p.Thr41=)
n.818T>C
c.1722T>C (p.Thr574=)
c.*703T>C (n.*703T>C)
c.*722T>C (n.*722T>C)
c.900T>C
c.1647T>C (p.Thr549=)
c.*680T>C (n.*680T>C)
c.567T>C (p.Thr189=)
c.279T>C (p.Thr93=)
c.1803T>C (p.Thr601=)
c.1605T>C (p.Thr535=)
c.759T>C (p.Thr253=)
c.714T>C (p.Thr238=)
c.546T>C (p.Thr182=)
c.420T>C (p.Thr140=)
n.2012T>C
12g.32611256T>GCA479167891FGD4c.1311T>G (p.Thr437=)
c.1566T>G (p.Thr522=)
c.1032T>G (p.Thr344=)
c.123T>G (p.Thr41=)
n.818T>G
c.1722T>G (p.Thr574=)
c.*703T>G (n.*703T>G)
c.*722T>G (n.*722T>G)
c.900T>G
c.1647T>G (p.Thr549=)
c.*680T>G (n.*680T>G)
c.567T>G (p.Thr189=)
c.279T>G (p.Thr93=)
c.1803T>G (p.Thr601=)
c.1605T>G (p.Thr535=)
c.759T>G (p.Thr253=)
c.714T>G (p.Thr238=)
c.546T>G (p.Thr182=)
c.420T>G (p.Thr140=)
n.2012T>G
 gnomAD v4
12g.32611257T>ACA384361202FGD4c.1312T>A (p.Ser438Thr)
c.1567T>A (p.Ser523Thr)
c.1033T>A (p.Ser345Thr)
c.124T>A (p.Ser42Thr)
n.819T>A
c.1723T>A (p.Ser575Thr)
c.*704T>A (n.*704T>A)
c.*723T>A (n.*723T>A)
c.901T>A
c.1648T>A (p.Ser550Thr)
c.*681T>A (n.*681T>A)
c.568T>A (p.Ser190Thr)
c.280T>A (p.Ser94Thr)
c.1804T>A (p.Ser602Thr)
c.1606T>A (p.Ser536Thr)
c.760T>A (p.Ser254Thr)
c.715T>A (p.Ser239Thr)
c.547T>A (p.Ser183Thr)
c.421T>A (p.Ser141Thr)
n.2013T>A
12g.32611257T>CCA384361203FGD4c.1312T>C (p.Ser438Pro)
c.1567T>C (p.Ser523Pro)
c.1033T>C (p.Ser345Pro)
c.124T>C (p.Ser42Pro)
n.819T>C
c.1723T>C (p.Ser575Pro)
c.*704T>C (n.*704T>C)
c.*723T>C (n.*723T>C)
c.901T>C
c.1648T>C (p.Ser550Pro)
c.*681T>C (n.*681T>C)
c.568T>C (p.Ser190Pro)
c.280T>C (p.Ser94Pro)
c.1804T>C (p.Ser602Pro)
c.1606T>C (p.Ser536Pro)
c.760T>C (p.Ser254Pro)
c.715T>C (p.Ser239Pro)
c.547T>C (p.Ser183Pro)
c.421T>C (p.Ser141Pro)
n.2013T>C
12g.32611257T>GCA384361204FGD4c.1312T>G (p.Ser438Ala)
c.1567T>G (p.Ser523Ala)
c.1033T>G (p.Ser345Ala)
c.124T>G (p.Ser42Ala)
n.819T>G
c.1723T>G (p.Ser575Ala)
c.*704T>G (n.*704T>G)
c.*723T>G (n.*723T>G)
c.901T>G
c.1648T>G (p.Ser550Ala)
c.*681T>G (n.*681T>G)
c.568T>G (p.Ser190Ala)
c.280T>G (p.Ser94Ala)
c.1804T>G (p.Ser602Ala)
c.1606T>G (p.Ser536Ala)
c.760T>G (p.Ser254Ala)
c.715T>G (p.Ser239Ala)
c.547T>G (p.Ser183Ala)
c.421T>G (p.Ser141Ala)
n.2013T>G
12g.32611258C>ACA384361207FGD4c.1313C>A (p.Ser438Ter)
c.1568C>A (p.Ser523Ter)
c.1034C>A (p.Ser345Ter)
c.125C>A (p.Ser42Ter)
n.820C>A
c.1724C>A (p.Ser575Ter)
c.*705C>A (n.*705C>A)
c.*724C>A (n.*724C>A)
c.902C>A
c.1649C>A (p.Ser550Ter)
c.*682C>A (n.*682C>A)
c.569C>A (p.Ser190Ter)
c.281C>A (p.Ser94Ter)
c.1805C>A (p.Ser602Ter)
c.1607C>A (p.Ser536Ter)
c.761C>A (p.Ser254Ter)
c.716C>A (p.Ser239Ter)
c.548C>A (p.Ser183Ter)
c.422C>A (p.Ser141Ter)
n.2014C>A
12g.32611258C>GCA384361206FGD4c.1313C>G (p.Ser438Ter)
c.1568C>G (p.Ser523Ter)
c.1034C>G (p.Ser345Ter)
c.125C>G (p.Ser42Ter)
n.820C>G
c.1724C>G (p.Ser575Ter)
c.*705C>G (n.*705C>G)
c.*724C>G (n.*724C>G)
c.902C>G
c.1649C>G (p.Ser550Ter)
c.*682C>G (n.*682C>G)
c.569C>G (p.Ser190Ter)
c.281C>G (p.Ser94Ter)
c.1805C>G (p.Ser602Ter)
c.1607C>G (p.Ser536Ter)
c.761C>G (p.Ser254Ter)
c.716C>G (p.Ser239Ter)
c.548C>G (p.Ser183Ter)
c.422C>G (p.Ser141Ter)
n.2014C>G
 gnomAD v4
12g.32611258C>TCA384361205FGD4c.1313C>T (p.Ser438Leu)
c.1568C>T (p.Ser523Leu)
c.1034C>T (p.Ser345Leu)
c.125C>T (p.Ser42Leu)
n.820C>T
c.1724C>T (p.Ser575Leu)
c.*705C>T (n.*705C>T)
c.*724C>T (n.*724C>T)
c.902C>T
c.1649C>T (p.Ser550Leu)
c.*682C>T (n.*682C>T)
c.569C>T (p.Ser190Leu)
c.281C>T (p.Ser94Leu)
c.1805C>T (p.Ser602Leu)
c.1607C>T (p.Ser536Leu)
c.761C>T (p.Ser254Leu)
c.716C>T (p.Ser239Leu)
c.548C>T (p.Ser183Leu)
c.422C>T (p.Ser141Leu)
n.2014C>T
 COSMIC COSMIC COSMIC
12g.32611259A>CCA479167896FGD4c.1314A>C (p.Ser438=)
c.1569A>C (p.Ser523=)
c.1035A>C (p.Ser345=)
c.126A>C (p.Ser42=)
n.821A>C
c.1725A>C (p.Ser575=)
c.*706A>C (n.*706A>C)
c.*725A>C (n.*725A>C)
c.903A>C
c.1650A>C (p.Ser550=)
c.*683A>C (n.*683A>C)
c.570A>C (p.Ser190=)
c.282A>C (p.Ser94=)
c.1806A>C (p.Ser602=)
c.1608A>C (p.Ser536=)
c.762A>C (p.Ser254=)
c.717A>C (p.Ser239=)
c.549A>C (p.Ser183=)
c.423A>C (p.Ser141=)
n.2015A>C
12g.32611259A>GCA479167895FGD4c.1314A>G (p.Ser438=)
c.1569A>G (p.Ser523=)
c.1035A>G (p.Ser345=)
c.126A>G (p.Ser42=)
n.821A>G
c.1725A>G (p.Ser575=)
c.*706A>G (n.*706A>G)
c.*725A>G (n.*725A>G)
c.903A>G
c.1650A>G (p.Ser550=)
c.*683A>G (n.*683A>G)
c.570A>G (p.Ser190=)
c.282A>G (p.Ser94=)
c.1806A>G (p.Ser602=)
c.1608A>G (p.Ser536=)
c.762A>G (p.Ser254=)
c.717A>G (p.Ser239=)
c.549A>G (p.Ser183=)
c.423A>G (p.Ser141=)
n.2015A>G
 gnomAD v3 gnomAD v4
12g.32611259A>TCA479167894FGD4c.1314A>T (p.Ser438=)
c.1569A>T (p.Ser523=)
c.1035A>T (p.Ser345=)
c.126A>T (p.Ser42=)
n.821A>T
c.1725A>T (p.Ser575=)
c.*706A>T (n.*706A>T)
c.*725A>T (n.*725A>T)
c.903A>T
c.1650A>T (p.Ser550=)
c.*683A>T (n.*683A>T)
c.570A>T (p.Ser190=)
c.282A>T (p.Ser94=)
c.1806A>T (p.Ser602=)
c.1608A>T (p.Ser536=)
c.762A>T (p.Ser254=)
c.717A>T (p.Ser239=)
c.549A>T (p.Ser183=)
c.423A>T (p.Ser141=)
n.2015A>T
12g.32611260G>ACA384361208FGD4c.1315G>A (p.Ala439Thr)
c.1570G>A (p.Ala524Thr)
c.1036G>A (p.Ala346Thr)
c.127G>A (p.Ala43Thr)
n.822G>A
c.1726G>A (p.Ala576Thr)
c.*707G>A (n.*707G>A)
c.*726G>A (n.*726G>A)
c.904G>A
c.1651G>A (p.Ala551Thr)
c.*684G>A (n.*684G>A)
c.571G>A (p.Ala191Thr)
c.283G>A (p.Ala95Thr)
c.1807G>A (p.Ala603Thr)
c.1609G>A (p.Ala537Thr)
c.763G>A (p.Ala255Thr)
c.718G>A (p.Ala240Thr)
c.550G>A (p.Ala184Thr)
c.424G>A (p.Ala142Thr)
n.2016G>A
 COSMIC COSMIC COSMIC
12g.32611260G>CCA384361209FGD4c.1315G>C (p.Ala439Pro)
c.1570G>C (p.Ala524Pro)
c.1036G>C (p.Ala346Pro)
c.127G>C (p.Ala43Pro)
n.822G>C
c.1726G>C (p.Ala576Pro)
c.*707G>C (n.*707G>C)
c.*726G>C (n.*726G>C)
c.904G>C
c.1651G>C (p.Ala551Pro)
c.*684G>C (n.*684G>C)
c.571G>C (p.Ala191Pro)
c.283G>C (p.Ala95Pro)
c.1807G>C (p.Ala603Pro)
c.1609G>C (p.Ala537Pro)
c.763G>C (p.Ala255Pro)
c.718G>C (p.Ala240Pro)
c.550G>C (p.Ala184Pro)
c.424G>C (p.Ala142Pro)
n.2016G>C
12g.32611260G>TCA384361210FGD4c.1315G>T (p.Ala439Ser)
c.1570G>T (p.Ala524Ser)
c.1036G>T (p.Ala346Ser)
c.127G>T (p.Ala43Ser)
n.822G>T
c.1726G>T (p.Ala576Ser)
c.*707G>T (n.*707G>T)
c.*726G>T (n.*726G>T)
c.904G>T
c.1651G>T (p.Ala551Ser)
c.*684G>T (n.*684G>T)
c.571G>T (p.Ala191Ser)
c.283G>T (p.Ala95Ser)
c.1807G>T (p.Ala603Ser)
c.1609G>T (p.Ala537Ser)
c.763G>T (p.Ala255Ser)
c.718G>T (p.Ala240Ser)
c.550G>T (p.Ala184Ser)
c.424G>T (p.Ala142Ser)
n.2016G>T
12g.32611261C>ACA384361211FGD4c.1316C>A (p.Ala439Glu)
c.1571C>A (p.Ala524Glu)
c.1037C>A (p.Ala346Glu)
c.128C>A (p.Ala43Glu)
n.823C>A
c.1727C>A (p.Ala576Glu)
c.*708C>A (n.*708C>A)
c.*727C>A (n.*727C>A)
c.905C>A
c.1652C>A (p.Ala551Glu)
c.*685C>A (n.*685C>A)
c.572C>A (p.Ala191Glu)
c.284C>A (p.Ala95Glu)
c.1808C>A (p.Ala603Glu)
c.1610C>A (p.Ala537Glu)
c.764C>A (p.Ala255Glu)
c.719C>A (p.Ala240Glu)
c.551C>A (p.Ala184Glu)
c.425C>A (p.Ala142Glu)
n.2017C>A
12g.32611261C>GCA384361212FGD4c.1316C>G (p.Ala439Gly)
c.1571C>G (p.Ala524Gly)
c.1037C>G (p.Ala346Gly)
c.128C>G (p.Ala43Gly)
n.823C>G
c.1727C>G (p.Ala576Gly)
c.*708C>G (n.*708C>G)
c.*727C>G (n.*727C>G)
c.905C>G
c.1652C>G (p.Ala551Gly)
c.*685C>G (n.*685C>G)
c.572C>G (p.Ala191Gly)
c.284C>G (p.Ala95Gly)
c.1808C>G (p.Ala603Gly)
c.1610C>G (p.Ala537Gly)
c.764C>G (p.Ala255Gly)
c.719C>G (p.Ala240Gly)
c.551C>G (p.Ala184Gly)
c.425C>G (p.Ala142Gly)
n.2017C>G
12g.32611261C>TCA384361213FGD4c.1316C>T (p.Ala439Val)
c.1571C>T (p.Ala524Val)
c.1037C>T (p.Ala346Val)
c.128C>T (p.Ala43Val)
n.823C>T
c.1727C>T (p.Ala576Val)
c.*708C>T (n.*708C>T)
c.*727C>T (n.*727C>T)
c.905C>T
c.1652C>T (p.Ala551Val)
c.*685C>T (n.*685C>T)
c.572C>T (p.Ala191Val)
c.284C>T (p.Ala95Val)
c.1808C>T (p.Ala603Val)
c.1610C>T (p.Ala537Val)
c.764C>T (p.Ala255Val)
c.719C>T (p.Ala240Val)
c.551C>T (p.Ala184Val)
c.425C>T (p.Ala142Val)
n.2017C>T
12g.32611262A>CCA479167897FGD4c.1317A>C (p.Ala439=)
c.1572A>C (p.Ala524=)
c.1038A>C (p.Ala346=)
c.129A>C (p.Ala43=)
n.824A>C
c.1728A>C (p.Ala576=)
c.*709A>C (n.*709A>C)
c.*728A>C (n.*728A>C)
c.906A>C
c.1653A>C (p.Ala551=)
c.*686A>C (n.*686A>C)
c.573A>C (p.Ala191=)
c.285A>C (p.Ala95=)
c.1809A>C (p.Ala603=)
c.1611A>C (p.Ala537=)
c.765A>C (p.Ala255=)
c.720A>C (p.Ala240=)
c.552A>C (p.Ala184=)
c.426A>C (p.Ala142=)
n.2018A>C
 gnomAD v4
12g.32611262A>GCA479167899FGD4c.1317A>G (p.Ala439=)
c.1572A>G (p.Ala524=)
c.1038A>G (p.Ala346=)
c.129A>G (p.Ala43=)
n.824A>G
c.1728A>G (p.Ala576=)
c.*709A>G (n.*709A>G)
c.*728A>G (n.*728A>G)
c.906A>G
c.1653A>G (p.Ala551=)
c.*686A>G (n.*686A>G)
c.573A>G (p.Ala191=)
c.285A>G (p.Ala95=)
c.1809A>G (p.Ala603=)
c.1611A>G (p.Ala537=)
c.765A>G (p.Ala255=)
c.720A>G (p.Ala240=)
c.552A>G (p.Ala184=)
c.426A>G (p.Ala142=)
n.2018A>G
12g.32611262A>TCA479167898FGD4c.1317A>T (p.Ala439=)
c.1572A>T (p.Ala524=)
c.1038A>T (p.Ala346=)
c.129A>T (p.Ala43=)
n.824A>T
c.1728A>T (p.Ala576=)
c.*709A>T (n.*709A>T)
c.*728A>T (n.*728A>T)
c.906A>T
c.1653A>T (p.Ala551=)
c.*686A>T (n.*686A>T)
c.573A>T (p.Ala191=)
c.285A>T (p.Ala95=)
c.1809A>T (p.Ala603=)
c.1611A>T (p.Ala537=)
c.765A>T (p.Ala255=)
c.720A>T (p.Ala240=)
c.552A>T (p.Ala184=)
c.426A>T (p.Ala142=)
n.2018A>T
12g.32611263C>ACA384361214FGD4c.1318C>A (p.Gln440Lys)
c.1573C>A (p.Gln525Lys)
c.1039C>A (p.Gln347Lys)
c.130C>A (p.Gln44Lys)
n.825C>A
c.1729C>A (p.Gln577Lys)
c.*710C>A (n.*710C>A)
c.*729C>A (n.*729C>A)
c.907C>A
c.1654C>A (p.Gln552Lys)
c.*687C>A (n.*687C>A)
c.574C>A (p.Gln192Lys)
c.286C>A (p.Gln96Lys)
c.1810C>A (p.Gln604Lys)
c.1612C>A (p.Gln538Lys)
c.766C>A (p.Gln256Lys)
c.721C>A (p.Gln241Lys)
c.553C>A (p.Gln185Lys)
c.427C>A (p.Gln143Lys)
n.2019C>A
12g.32611263C>GCA384361215FGD4c.1318C>G (p.Gln440Glu)
c.1573C>G (p.Gln525Glu)
c.1039C>G (p.Gln347Glu)
c.130C>G (p.Gln44Glu)
n.825C>G
c.1729C>G (p.Gln577Glu)
c.*710C>G (n.*710C>G)
c.*729C>G (n.*729C>G)
c.907C>G
c.1654C>G (p.Gln552Glu)
c.*687C>G (n.*687C>G)
c.574C>G (p.Gln192Glu)
c.286C>G (p.Gln96Glu)
c.1810C>G (p.Gln604Glu)
c.1612C>G (p.Gln538Glu)
c.766C>G (p.Gln256Glu)
c.721C>G (p.Gln241Glu)
c.553C>G (p.Gln185Glu)
c.427C>G (p.Gln143Glu)
n.2019C>G
12g.32611263C>TCA384361216FGD4c.1318C>T (p.Gln440Ter)
c.1573C>T (p.Gln525Ter)
c.1039C>T (p.Gln347Ter)
c.130C>T (p.Gln44Ter)
n.825C>T
c.1729C>T (p.Gln577Ter)
c.*710C>T (n.*710C>T)
c.*729C>T (n.*729C>T)
c.907C>T
c.1654C>T (p.Gln552Ter)
c.*687C>T (n.*687C>T)
c.574C>T (p.Gln192Ter)
c.286C>T (p.Gln96Ter)
c.1810C>T (p.Gln604Ter)
c.1612C>T (p.Gln538Ter)
c.766C>T (p.Gln256Ter)
c.721C>T (p.Gln241Ter)
c.553C>T (p.Gln185Ter)
c.427C>T (p.Gln143Ter)
n.2019C>T
12g.32611264A>CCA384361217FGD4c.1319A>C (p.Gln440Pro)
c.1574A>C (p.Gln525Pro)
c.1040A>C (p.Gln347Pro)
c.131A>C (p.Gln44Pro)
n.826A>C
c.1730A>C (p.Gln577Pro)
c.*711A>C (n.*711A>C)
c.*730A>C (n.*730A>C)
c.908A>C
c.1655A>C (p.Gln552Pro)
c.*688A>C (n.*688A>C)
c.575A>C (p.Gln192Pro)
c.287A>C (p.Gln96Pro)
c.1811A>C (p.Gln604Pro)
c.1613A>C (p.Gln538Pro)
c.767A>C (p.Gln256Pro)
c.722A>C (p.Gln241Pro)
c.554A>C (p.Gln185Pro)
c.428A>C (p.Gln143Pro)
n.2020A>C
12g.32611264A>GCA384361218FGD4c.1319A>G (p.Gln440Arg)
c.1574A>G (p.Gln525Arg)
c.1040A>G (p.Gln347Arg)
c.131A>G (p.Gln44Arg)
n.826A>G
c.1730A>G (p.Gln577Arg)
c.*711A>G (n.*711A>G)
c.*730A>G (n.*730A>G)
c.908A>G
c.1655A>G (p.Gln552Arg)
c.*688A>G (n.*688A>G)
c.575A>G (p.Gln192Arg)
c.287A>G (p.Gln96Arg)
c.1811A>G (p.Gln604Arg)
c.1613A>G (p.Gln538Arg)
c.767A>G (p.Gln256Arg)
c.722A>G (p.Gln241Arg)
c.554A>G (p.Gln185Arg)
c.428A>G (p.Gln143Arg)
n.2020A>G
 ClinVar dbSNP gnomAD v4
12g.32611264A>TCA384361220FGD4c.1319A>T (p.Gln440Leu)
c.1574A>T (p.Gln525Leu)
c.1040A>T (p.Gln347Leu)
c.131A>T (p.Gln44Leu)
n.826A>T
c.1730A>T (p.Gln577Leu)
c.*711A>T (n.*711A>T)
c.*730A>T (n.*730A>T)
c.908A>T
c.1655A>T (p.Gln552Leu)
c.*688A>T (n.*688A>T)
c.575A>T (p.Gln192Leu)
c.287A>T (p.Gln96Leu)
c.1811A>T (p.Gln604Leu)
c.1613A>T (p.Gln538Leu)
c.767A>T (p.Gln256Leu)
c.722A>T (p.Gln241Leu)
c.554A>T (p.Gln185Leu)
c.428A>T (p.Gln143Leu)
n.2020A>T
12g.32611265A=CA2026267818FGD4c.1320A= (p.Gln440=)
c.1575A= (p.Gln525=)
c.1041A= (p.Gln347=)
c.132A= (p.Gln44=)
n.827A=
c.1731A= (p.Gln577=)
c.*712A= (n.*712A=)
c.*731A= (n.*731A=)
c.909A=
c.1656A= (p.Gln552=)
c.*689A= (n.*689A=)
c.576A= (p.Gln192=)
c.288A= (p.Gln96=)
c.1812A= (p.Gln604=)
c.1614A= (p.Gln538=)
c.768A= (p.Gln256=)
c.723A= (p.Gln241=)
c.555A= (p.Gln185=)
c.429A= (p.Gln143=)
n.2021A=
12g.32611265A>CCA384361221FGD4c.1320A>C (p.Gln440His)
c.1575A>C (p.Gln525His)
c.1041A>C (p.Gln347His)
c.132A>C (p.Gln44His)
n.827A>C
c.1731A>C (p.Gln577His)
c.*712A>C (n.*712A>C)
c.*731A>C (n.*731A>C)
c.909A>C
c.1656A>C (p.Gln552His)
c.*689A>C (n.*689A>C)
c.576A>C (p.Gln192His)
c.288A>C (p.Gln96His)
c.1812A>C (p.Gln604His)
c.1614A>C (p.Gln538His)
c.768A>C (p.Gln256His)
c.723A>C (p.Gln241His)
c.555A>C (p.Gln185His)
c.429A>C (p.Gln143His)
n.2021A>C
12g.32611265A>GCA479167900FGD4c.1320A>G (p.Gln440=)
c.1575A>G (p.Gln525=)
c.1041A>G (p.Gln347=)
c.132A>G (p.Gln44=)
n.827A>G
c.1731A>G (p.Gln577=)
c.*712A>G (n.*712A>G)
c.*731A>G (n.*731A>G)
c.909A>G
c.1656A>G (p.Gln552=)
c.*689A>G (n.*689A>G)
c.576A>G (p.Gln192=)
c.288A>G (p.Gln96=)
c.1812A>G (p.Gln604=)
c.1614A>G (p.Gln538=)
c.768A>G (p.Gln256=)
c.723A>G (p.Gln241=)
c.555A>G (p.Gln185=)
c.429A>G (p.Gln143=)
n.2021A>G
 dbSNP gnomAD v2 gnomAD v4
12g.32611265A>TCA384361223FGD4c.1320A>T (p.Gln440His)
c.1575A>T (p.Gln525His)
c.1041A>T (p.Gln347His)
c.132A>T (p.Gln44His)
n.827A>T
c.1731A>T (p.Gln577His)
c.*712A>T (n.*712A>T)
c.*731A>T (n.*731A>T)
c.909A>T
c.1656A>T (p.Gln552His)
c.*689A>T (n.*689A>T)
c.576A>T (p.Gln192His)
c.288A>T (p.Gln96His)
c.1812A>T (p.Gln604His)
c.1614A>T (p.Gln538His)
c.768A>T (p.Gln256His)
c.723A>T (p.Gln241His)
c.555A>T (p.Gln185His)
c.429A>T (p.Gln143His)
n.2021A>T
12g.32611266G>ACA384361225FGD4c.1321G>A (p.Glu441Lys)
c.1576G>A (p.Glu526Lys)
c.1042G>A (p.Glu348Lys)
c.133G>A (p.Glu45Lys)
n.828G>A
c.1732G>A (p.Glu578Lys)
c.*713G>A (n.*713G>A)
c.*732G>A (n.*732G>A)
c.910G>A
c.1657G>A (p.Glu553Lys)
c.*690G>A (n.*690G>A)
c.577G>A (p.Glu193Lys)
c.289G>A (p.Glu97Lys)
c.1813G>A (p.Glu605Lys)
c.1615G>A (p.Glu539Lys)
c.769G>A (p.Glu257Lys)
c.724G>A (p.Glu242Lys)
c.556G>A (p.Glu186Lys)
c.430G>A (p.Glu144Lys)
n.2022G>A
12g.32611266G>CCA384361227FGD4c.1321G>C (p.Glu441Gln)
c.1576G>C (p.Glu526Gln)
c.1042G>C (p.Glu348Gln)
c.133G>C (p.Glu45Gln)
n.828G>C
c.1732G>C (p.Glu578Gln)
c.*713G>C (n.*713G>C)
c.*732G>C (n.*732G>C)
c.910G>C
c.1657G>C (p.Glu553Gln)
c.*690G>C (n.*690G>C)
c.577G>C (p.Glu193Gln)
c.289G>C (p.Glu97Gln)
c.1813G>C (p.Glu605Gln)
c.1615G>C (p.Glu539Gln)
c.769G>C (p.Glu257Gln)
c.724G>C (p.Glu242Gln)
c.556G>C (p.Glu186Gln)
c.430G>C (p.Glu144Gln)
n.2022G>C
12g.32611266G>TCA384361228FGD4c.1321G>T (p.Glu441Ter)
c.1576G>T (p.Glu526Ter)
c.1042G>T (p.Glu348Ter)
c.133G>T (p.Glu45Ter)
n.828G>T
c.1732G>T (p.Glu578Ter)
c.*713G>T (n.*713G>T)
c.*732G>T (n.*732G>T)
c.910G>T
c.1657G>T (p.Glu553Ter)
c.*690G>T (n.*690G>T)
c.577G>T (p.Glu193Ter)
c.289G>T (p.Glu97Ter)
c.1813G>T (p.Glu605Ter)
c.1615G>T (p.Glu539Ter)
c.769G>T (p.Glu257Ter)
c.724G>T (p.Glu242Ter)
c.556G>T (p.Glu186Ter)
c.430G>T (p.Glu144Ter)
n.2022G>T
12g.32611267A>CCA384361229FGD4c.1322A>C (p.Glu441Ala)
c.1577A>C (p.Glu526Ala)
c.1043A>C (p.Glu348Ala)
c.134A>C (p.Glu45Ala)
n.829A>C
c.1733A>C (p.Glu578Ala)
c.*714A>C (n.*714A>C)
c.*733A>C (n.*733A>C)
c.911A>C
c.1658A>C (p.Glu553Ala)
c.*691A>C (n.*691A>C)
c.578A>C (p.Glu193Ala)
c.290A>C (p.Glu97Ala)
c.1814A>C (p.Glu605Ala)
c.1616A>C (p.Glu539Ala)
c.770A>C (p.Glu257Ala)
c.725A>C (p.Glu242Ala)
c.557A>C (p.Glu186Ala)
c.431A>C (p.Glu144Ala)
n.2023A>C
12g.32611267A>GCA384361230FGD4c.1322A>G (p.Glu441Gly)
c.1577A>G (p.Glu526Gly)
c.1043A>G (p.Glu348Gly)
c.134A>G (p.Glu45Gly)
n.829A>G
c.1733A>G (p.Glu578Gly)
c.*714A>G (n.*714A>G)
c.*733A>G (n.*733A>G)
c.911A>G
c.1658A>G (p.Glu553Gly)
c.*691A>G (n.*691A>G)
c.578A>G (p.Glu193Gly)
c.290A>G (p.Glu97Gly)
c.1814A>G (p.Glu605Gly)
c.1616A>G (p.Glu539Gly)
c.770A>G (p.Glu257Gly)
c.725A>G (p.Glu242Gly)
c.557A>G (p.Glu186Gly)
c.431A>G (p.Glu144Gly)
n.2023A>G
12g.32611267A>TCA384361231FGD4c.1322A>T (p.Glu441Val)
c.1577A>T (p.Glu526Val)
c.1043A>T (p.Glu348Val)
c.134A>T (p.Glu45Val)
n.829A>T
c.1733A>T (p.Glu578Val)
c.*714A>T (n.*714A>T)
c.*733A>T (n.*733A>T)
c.911A>T
c.1658A>T (p.Glu553Val)
c.*691A>T (n.*691A>T)
c.578A>T (p.Glu193Val)
c.290A>T (p.Glu97Val)
c.1814A>T (p.Glu605Val)
c.1616A>T (p.Glu539Val)
c.770A>T (p.Glu257Val)
c.725A>T (p.Glu242Val)
c.557A>T (p.Glu186Val)
c.431A>T (p.Glu144Val)
n.2023A>T
12g.32611268A=CA2026267820FGD4c.1323A= (p.Glu441=)
c.1578A= (p.Glu526=)
c.1044A= (p.Glu348=)
c.135A= (p.Glu45=)
n.830A=
c.1734A= (p.Glu578=)
c.*715A= (n.*715A=)
c.*734A= (n.*734A=)
c.912A=
c.1659A= (p.Glu553=)
c.*692A= (n.*692A=)
c.579A= (p.Glu193=)
c.291A= (p.Glu97=)
c.1815A= (p.Glu605=)
c.1617A= (p.Glu539=)
c.771A= (p.Glu257=)
c.726A= (p.Glu242=)
c.558A= (p.Glu186=)
c.432A= (p.Glu144=)
n.2024A=
12g.32611268A>CCA384361235FGD4c.1323A>C (p.Glu441Asp)
c.1578A>C (p.Glu526Asp)
c.1044A>C (p.Glu348Asp)
c.135A>C (p.Glu45Asp)
n.830A>C
c.1734A>C (p.Glu578Asp)
c.*715A>C (n.*715A>C)
c.*734A>C (n.*734A>C)
c.912A>C
c.1659A>C (p.Glu553Asp)
c.*692A>C (n.*692A>C)
c.579A>C (p.Glu193Asp)
c.291A>C (p.Glu97Asp)
c.1815A>C (p.Glu605Asp)
c.1617A>C (p.Glu539Asp)
c.771A>C (p.Glu257Asp)
c.726A>C (p.Glu242Asp)
c.558A>C (p.Glu186Asp)
c.432A>C (p.Glu144Asp)
n.2024A>C
12g.32611268A>GCA479167901FGD4c.1323A>G (p.Glu441=)
c.1578A>G (p.Glu526=)
c.1044A>G (p.Glu348=)
c.135A>G (p.Glu45=)
n.830A>G
c.1734A>G (p.Glu578=)
c.*715A>G (n.*715A>G)
c.*734A>G (n.*734A>G)
c.912A>G
c.1659A>G (p.Glu553=)
c.*692A>G (n.*692A>G)
c.579A>G (p.Glu193=)
c.291A>G (p.Glu97=)
c.1815A>G (p.Glu605=)
c.1617A>G (p.Glu539=)
c.771A>G (p.Glu257=)
c.726A>G (p.Glu242=)
c.558A>G (p.Glu186=)
c.432A>G (p.Glu144=)
n.2024A>G
 dbSNP gnomAD v4
12g.32611268A>TCA384361233FGD4c.1323A>T (p.Glu441Asp)
c.1578A>T (p.Glu526Asp)
c.1044A>T (p.Glu348Asp)
c.135A>T (p.Glu45Asp)
n.830A>T
c.1734A>T (p.Glu578Asp)
c.*715A>T (n.*715A>T)
c.*734A>T (n.*734A>T)
c.912A>T
c.1659A>T (p.Glu553Asp)
c.*692A>T (n.*692A>T)
c.579A>T (p.Glu193Asp)
c.291A>T (p.Glu97Asp)
c.1815A>T (p.Glu605Asp)
c.1617A>T (p.Glu539Asp)
c.771A>T (p.Glu257Asp)
c.726A>T (p.Glu242Asp)
c.558A>T (p.Glu186Asp)
c.432A>T (p.Glu144Asp)
n.2024A>T
12g.32611269C>ACA384361236FGD4c.1324C>A (p.Arg442Ser)
c.1579C>A (p.Arg527Ser)
c.1045C>A (p.Arg349Ser)
c.136C>A (p.Arg46Ser)
n.831C>A
c.1735C>A (p.Arg579Ser)
c.*716C>A (n.*716C>A)
c.*735C>A (n.*735C>A)
c.913C>A
c.1660C>A (p.Arg554Ser)
c.*693C>A (n.*693C>A)
c.580C>A (p.Arg194Ser)
c.292C>A (p.Arg98Ser)
c.1816C>A (p.Arg606Ser)
c.1618C>A (p.Arg540Ser)
c.772C>A (p.Arg258Ser)
c.727C>A (p.Arg243Ser)
c.559C>A (p.Arg187Ser)
c.433C>A (p.Arg145Ser)
n.2025C>A
 gnomAD v4
12g.32611269C=CA2026267823FGD4c.1324C= (p.Arg442=)
c.1579C= (p.Arg527=)
c.1045C= (p.Arg349=)
c.136C= (p.Arg46=)
n.831C=
c.1735C= (p.Arg579=)
c.*716C= (n.*716C=)
c.*735C= (n.*735C=)
c.913C=
c.1660C= (p.Arg554=)
c.*693C= (n.*693C=)
c.580C= (p.Arg194=)
c.292C= (p.Arg98=)
c.1816C= (p.Arg606=)
c.1618C= (p.Arg540=)
c.772C= (p.Arg258=)
c.727C= (p.Arg243=)
c.559C= (p.Arg187=)
c.433C= (p.Arg145=)
n.2025C=
12g.32611269C>GCA384361238FGD4c.1324C>G (p.Arg442Gly)
c.1579C>G (p.Arg527Gly)
c.1045C>G (p.Arg349Gly)
c.136C>G (p.Arg46Gly)
n.831C>G
c.1735C>G (p.Arg579Gly)
c.*716C>G (n.*716C>G)
c.*735C>G (n.*735C>G)
c.913C>G
c.1660C>G (p.Arg554Gly)
c.*693C>G (n.*693C>G)
c.580C>G (p.Arg194Gly)
c.292C>G (p.Arg98Gly)
c.1816C>G (p.Arg606Gly)
c.1618C>G (p.Arg540Gly)
c.772C>G (p.Arg258Gly)
c.727C>G (p.Arg243Gly)
c.559C>G (p.Arg187Gly)
c.433C>G (p.Arg145Gly)
n.2025C>G
12g.32611269C>TCA384361240FGD4c.1324C>T (p.Arg442Cys)
c.1579C>T (p.Arg527Cys)
c.1045C>T (p.Arg349Cys)
c.136C>T (p.Arg46Cys)
n.831C>T
c.1735C>T (p.Arg579Cys)
c.*716C>T (n.*716C>T)
c.*735C>T (n.*735C>T)
c.913C>T
c.1660C>T (p.Arg554Cys)
c.*693C>T (n.*693C>T)
c.580C>T (p.Arg194Cys)
c.292C>T (p.Arg98Cys)
c.1816C>T (p.Arg606Cys)
c.1618C>T (p.Arg540Cys)
c.772C>T (p.Arg258Cys)
c.727C>T (p.Arg243Cys)
c.559C>T (p.Arg187Cys)
c.433C>T (p.Arg145Cys)
n.2025C>T
 ClinVar dbSNP gnomAD v4
12g.32611270G>ACA343101FGD4c.1325G>A (p.Arg442His)
c.1580G>A (p.Arg527His)
c.1046G>A (p.Arg349His)
c.137G>A (p.Arg46His)
n.832G>A
c.1736G>A (p.Arg579His)
c.*717G>A (n.*717G>A)
c.*736G>A (n.*736G>A)
c.914G>A
c.1661G>A (p.Arg554His)
c.*694G>A (n.*694G>A)
c.581G>A (p.Arg194His)
c.293G>A (p.Arg98His)
c.1817G>A (p.Arg606His)
c.1619G>A (p.Arg540His)
c.773G>A (p.Arg258His)
c.728G>A (p.Arg243His)
c.560G>A (p.Arg187His)
c.434G>A (p.Arg145His)
n.2026G>A
 ClinVar dbSNP gnomAD v4 COSMIC
12g.32611270G>CCA384361243FGD4c.1325G>C (p.Arg442Pro)
c.1580G>C (p.Arg527Pro)
c.1046G>C (p.Arg349Pro)
c.137G>C (p.Arg46Pro)
n.832G>C
c.1736G>C (p.Arg579Pro)
c.*717G>C (n.*717G>C)
c.*736G>C (n.*736G>C)
c.914G>C
c.1661G>C (p.Arg554Pro)
c.*694G>C (n.*694G>C)
c.581G>C (p.Arg194Pro)
c.293G>C (p.Arg98Pro)
c.1817G>C (p.Arg606Pro)
c.1619G>C (p.Arg540Pro)
c.773G>C (p.Arg258Pro)
c.728G>C (p.Arg243Pro)
c.560G>C (p.Arg187Pro)
c.434G>C (p.Arg145Pro)
n.2026G>C
12g.32611270G=CA2026267826FGD4c.1325G= (p.Arg442=)
c.1580G= (p.Arg527=)
c.1046G= (p.Arg349=)
c.137G= (p.Arg46=)
n.832G=
c.1736G= (p.Arg579=)
c.*717G= (n.*717G=)
c.*736G= (n.*736G=)
c.914G=
c.1661G= (p.Arg554=)
c.*694G= (n.*694G=)
c.581G= (p.Arg194=)
c.293G= (p.Arg98=)
c.1817G= (p.Arg606=)
c.1619G= (p.Arg540=)
c.773G= (p.Arg258=)
c.728G= (p.Arg243=)
c.560G= (p.Arg187=)
c.434G= (p.Arg145=)
n.2026G=
12g.32611270G>TCA384361245FGD4c.1325G>T (p.Arg442Leu)
c.1580G>T (p.Arg527Leu)
c.1046G>T (p.Arg349Leu)
c.137G>T (p.Arg46Leu)
n.832G>T
c.1736G>T (p.Arg579Leu)
c.*717G>T (n.*717G>T)
c.*736G>T (n.*736G>T)
c.914G>T
c.1661G>T (p.Arg554Leu)
c.*694G>T (n.*694G>T)
c.581G>T (p.Arg194Leu)
c.293G>T (p.Arg98Leu)
c.1817G>T (p.Arg606Leu)
c.1619G>T (p.Arg540Leu)
c.773G>T (p.Arg258Leu)
c.728G>T (p.Arg243Leu)
c.560G>T (p.Arg187Leu)
c.434G>T (p.Arg145Leu)
n.2026G>T

Number of alleles fetched